Mercurial > repos > bgruening > pharmcat
comparison test-data/test_1.pheno.json @ 1:891283e0ee89 draft default tip
"planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit dddf99b20ed9b07334505917f362785e3dace3b9"
| author | bgruening |
|---|---|
| date | Thu, 05 May 2022 20:27:17 +0000 |
| parents | d67642a21a1d |
| children |
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| 0:d67642a21a1d | 1:891283e0ee89 |
|---|---|
| 1 [ | 1 [ |
| 2 { | |
| 3 "geneSymbol": "ABCG2", | |
| 4 "chr": "chr4", | |
| 5 "phased": true, | |
| 6 "callSource": "MATCHER", | |
| 7 "uncalledHaplotypes": [ | |
| 8 "rs2231142 reference (G)", | |
| 9 "rs2231142 variant (T)" | |
| 10 ], | |
| 11 "messages": [], | |
| 12 "relatedDrugs": [ | |
| 13 { | |
| 14 "name": "rosuvastatin", | |
| 15 "guidelineId": "RxNorm:301542" | |
| 16 } | |
| 17 ], | |
| 18 "matcherDiplotypes": [ | |
| 19 { | |
| 20 "allele1": { | |
| 21 "gene": "ABCG2", | |
| 22 "name": "Unknown", | |
| 23 "function": "Unassigned function", | |
| 24 "reference": false | |
| 25 }, | |
| 26 "allele2": { | |
| 27 "gene": "ABCG2", | |
| 28 "name": "Unknown", | |
| 29 "function": "Unassigned function", | |
| 30 "reference": false | |
| 31 }, | |
| 32 "gene": "ABCG2", | |
| 33 "phenotypes": [ | |
| 34 "No Result" | |
| 35 ], | |
| 36 "variant": null, | |
| 37 "lookupKey": [ | |
| 38 "No Result" | |
| 39 ], | |
| 40 "label": "Unknown/Unknown" | |
| 41 } | |
| 42 ], | |
| 43 "diplotypes": [ | |
| 44 { | |
| 45 "allele1": { | |
| 46 "gene": "ABCG2", | |
| 47 "name": "Unknown", | |
| 48 "function": "Unassigned function", | |
| 49 "reference": false | |
| 50 }, | |
| 51 "allele2": { | |
| 52 "gene": "ABCG2", | |
| 53 "name": "Unknown", | |
| 54 "function": "Unassigned function", | |
| 55 "reference": false | |
| 56 }, | |
| 57 "gene": "ABCG2", | |
| 58 "phenotypes": [ | |
| 59 "No Result" | |
| 60 ], | |
| 61 "variant": null, | |
| 62 "lookupKey": [ | |
| 63 "No Result" | |
| 64 ], | |
| 65 "label": "Unknown/Unknown" | |
| 66 } | |
| 67 ], | |
| 68 "variants": [ | |
| 69 { | |
| 70 "gene": "ABCG2", | |
| 71 "chromosome": "chr4", | |
| 72 "position": 88131171, | |
| 73 "dbSnpId": "rs2231142", | |
| 74 "call": null, | |
| 75 "alleles": [ | |
| 76 "rs2231142 variant (T)" | |
| 77 ], | |
| 78 "phased": false, | |
| 79 "wildtypeAllele": "G", | |
| 80 "mismatch": false, | |
| 81 "warnings": [] | |
| 82 } | |
| 83 ], | |
| 84 "variantsOfInterest": [], | |
| 85 "highlightedVariants": [] | |
| 86 }, | |
| 2 { | 87 { |
| 3 "geneSymbol": "CACNA1S", | 88 "geneSymbol": "CACNA1S", |
| 4 "chr": "chr1", | 89 "chr": "chr1", |
| 5 "phased": true, | 90 "phased": true, |
| 6 "callSource": "MATCHER", | 91 "callSource": "MATCHER", |
| 49 "name": "Reference", | 134 "name": "Reference", |
| 50 "function": "Normal Function", | 135 "function": "Normal Function", |
| 51 "reference": true | 136 "reference": true |
| 52 }, | 137 }, |
| 53 "gene": "CACNA1S", | 138 "gene": "CACNA1S", |
| 54 "phenotype": "Uncertain Susceptibility", | 139 "phenotypes": [ |
| 140 "Uncertain Susceptibility" | |
| 141 ], | |
| 55 "variant": null, | 142 "variant": null, |
| 56 "lookupKey": "Uncertain Susceptibility", | 143 "lookupKey": [ |
| 144 "Uncertain Susceptibility" | |
| 145 ], | |
| 57 "label": "Reference/Reference" | 146 "label": "Reference/Reference" |
| 58 } | 147 } |
| 59 ], | 148 ], |
| 60 "diplotypes": [ | 149 "diplotypes": [ |
| 61 { | 150 { |
| 70 "name": "Reference", | 159 "name": "Reference", |
| 71 "function": "Normal Function", | 160 "function": "Normal Function", |
| 72 "reference": true | 161 "reference": true |
| 73 }, | 162 }, |
| 74 "gene": "CACNA1S", | 163 "gene": "CACNA1S", |
| 75 "phenotype": "Uncertain Susceptibility", | 164 "phenotypes": [ |
| 165 "Uncertain Susceptibility" | |
| 166 ], | |
| 76 "variant": null, | 167 "variant": null, |
| 77 "lookupKey": "Uncertain Susceptibility", | 168 "lookupKey": [ |
| 169 "Uncertain Susceptibility" | |
| 170 ], | |
| 78 "label": "Reference/Reference" | 171 "label": "Reference/Reference" |
| 79 } | 172 } |
| 80 ], | 173 ], |
| 81 "variants": [ | 174 "variants": [ |
| 82 { | 175 { |
| 88 "alleles": [ | 181 "alleles": [ |
| 89 "c.3257G\u003eA" | 182 "c.3257G\u003eA" |
| 90 ], | 183 ], |
| 91 "phased": true, | 184 "phased": true, |
| 92 "wildtypeAllele": "C", | 185 "wildtypeAllele": "C", |
| 93 "mismatch": false | 186 "mismatch": false, |
| 187 "warnings": [] | |
| 94 }, | 188 }, |
| 95 { | 189 { |
| 96 "gene": "CACNA1S", | 190 "gene": "CACNA1S", |
| 97 "chromosome": "chr1", | 191 "chromosome": "chr1", |
| 98 "position": 201091993, | 192 "position": 201091993, |
| 101 "alleles": [ | 195 "alleles": [ |
| 102 "c.520C\u003eT" | 196 "c.520C\u003eT" |
| 103 ], | 197 ], |
| 104 "phased": true, | 198 "phased": true, |
| 105 "wildtypeAllele": "G", | 199 "wildtypeAllele": "G", |
| 106 "mismatch": false | 200 "mismatch": false, |
| 201 "warnings": [] | |
| 107 } | 202 } |
| 108 ], | 203 ], |
| 109 "variantsOfInterest": [], | 204 "variantsOfInterest": [], |
| 110 "highlightedVariants": [] | 205 "highlightedVariants": [] |
| 111 }, | 206 }, |
| 135 "name": "ivacaftor non-responsive CFTR sequence", | 230 "name": "ivacaftor non-responsive CFTR sequence", |
| 136 "function": "ivacaftor non-responsive", | 231 "function": "ivacaftor non-responsive", |
| 137 "reference": true | 232 "reference": true |
| 138 }, | 233 }, |
| 139 "gene": "CFTR", | 234 "gene": "CFTR", |
| 140 "phenotype": "ivacaftor non-responsive in CF patients", | 235 "phenotypes": [ |
| 236 "ivacaftor non-responsive in CF patients" | |
| 237 ], | |
| 141 "variant": null, | 238 "variant": null, |
| 142 "lookupKey": "ivacaftor non-responsive in CF patients", | 239 "lookupKey": [ |
| 240 "ivacaftor non-responsive in CF patients" | |
| 241 ], | |
| 143 "label": "No CPIC variants found" | 242 "label": "No CPIC variants found" |
| 144 } | 243 } |
| 145 ], | 244 ], |
| 146 "diplotypes": [ | 245 "diplotypes": [ |
| 147 { | 246 { |
| 156 "name": "ivacaftor non-responsive CFTR sequence", | 255 "name": "ivacaftor non-responsive CFTR sequence", |
| 157 "function": "ivacaftor non-responsive", | 256 "function": "ivacaftor non-responsive", |
| 158 "reference": true | 257 "reference": true |
| 159 }, | 258 }, |
| 160 "gene": "CFTR", | 259 "gene": "CFTR", |
| 161 "phenotype": "ivacaftor non-responsive in CF patients", | 260 "phenotypes": [ |
| 261 "ivacaftor non-responsive in CF patients" | |
| 262 ], | |
| 162 "variant": null, | 263 "variant": null, |
| 163 "lookupKey": "ivacaftor non-responsive in CF patients", | 264 "lookupKey": [ |
| 265 "ivacaftor non-responsive in CF patients" | |
| 266 ], | |
| 164 "label": "No CPIC variants found" | 267 "label": "No CPIC variants found" |
| 165 } | 268 } |
| 166 ], | 269 ], |
| 167 "variants": [ | 270 "variants": [ |
| 168 { | 271 { |
| 174 "alleles": [ | 277 "alleles": [ |
| 175 "E56K" | 278 "E56K" |
| 176 ], | 279 ], |
| 177 "phased": true, | 280 "phased": true, |
| 178 "wildtypeAllele": "G", | 281 "wildtypeAllele": "G", |
| 179 "mismatch": false | 282 "mismatch": false, |
| 283 "warnings": [] | |
| 180 }, | 284 }, |
| 181 { | 285 { |
| 182 "gene": "CFTR", | 286 "gene": "CFTR", |
| 183 "chromosome": "chr7", | 287 "chromosome": "chr7", |
| 184 "position": 117509069, | 288 "position": 117509069, |
| 187 "alleles": [ | 291 "alleles": [ |
| 188 "P67L" | 292 "P67L" |
| 189 ], | 293 ], |
| 190 "phased": true, | 294 "phased": true, |
| 191 "wildtypeAllele": "C", | 295 "wildtypeAllele": "C", |
| 192 "mismatch": false | 296 "mismatch": false, |
| 297 "warnings": [] | |
| 193 }, | 298 }, |
| 194 { | 299 { |
| 195 "gene": "CFTR", | 300 "gene": "CFTR", |
| 196 "chromosome": "chr7", | 301 "chromosome": "chr7", |
| 197 "position": 117509089, | 302 "position": 117509089, |
| 200 "alleles": [ | 305 "alleles": [ |
| 201 "R74W" | 306 "R74W" |
| 202 ], | 307 ], |
| 203 "phased": true, | 308 "phased": true, |
| 204 "wildtypeAllele": "C", | 309 "wildtypeAllele": "C", |
| 205 "mismatch": false | 310 "mismatch": false, |
| 311 "warnings": [] | |
| 206 }, | 312 }, |
| 207 { | 313 { |
| 208 "gene": "CFTR", | 314 "gene": "CFTR", |
| 209 "chromosome": "chr7", | 315 "chromosome": "chr7", |
| 210 "position": 117530953, | 316 "position": 117530953, |
| 213 "alleles": [ | 319 "alleles": [ |
| 214 "D110H" | 320 "D110H" |
| 215 ], | 321 ], |
| 216 "phased": true, | 322 "phased": true, |
| 217 "wildtypeAllele": "G", | 323 "wildtypeAllele": "G", |
| 218 "mismatch": false | 324 "mismatch": false, |
| 325 "warnings": [] | |
| 219 }, | 326 }, |
| 220 { | 327 { |
| 221 "gene": "CFTR", | 328 "gene": "CFTR", |
| 222 "chromosome": "chr7", | 329 "chromosome": "chr7", |
| 223 "position": 117530955, | 330 "position": 117530955, |
| 226 "alleles": [ | 333 "alleles": [ |
| 227 "D110E" | 334 "D110E" |
| 228 ], | 335 ], |
| 229 "phased": true, | 336 "phased": true, |
| 230 "wildtypeAllele": "C", | 337 "wildtypeAllele": "C", |
| 231 "mismatch": false | 338 "mismatch": false, |
| 339 "warnings": [] | |
| 232 }, | 340 }, |
| 233 { | 341 { |
| 234 "gene": "CFTR", | 342 "gene": "CFTR", |
| 235 "chromosome": "chr7", | 343 "chromosome": "chr7", |
| 236 "position": 117530974, | 344 "position": 117530974, |
| 239 "alleles": [ | 347 "alleles": [ |
| 240 "R117C" | 348 "R117C" |
| 241 ], | 349 ], |
| 242 "phased": true, | 350 "phased": true, |
| 243 "wildtypeAllele": "C", | 351 "wildtypeAllele": "C", |
| 244 "mismatch": false | 352 "mismatch": false, |
| 353 "warnings": [] | |
| 245 }, | 354 }, |
| 246 { | 355 { |
| 247 "gene": "CFTR", | 356 "gene": "CFTR", |
| 248 "chromosome": "chr7", | 357 "chromosome": "chr7", |
| 249 "position": 117530975, | 358 "position": 117530975, |
| 252 "alleles": [ | 361 "alleles": [ |
| 253 "R117H" | 362 "R117H" |
| 254 ], | 363 ], |
| 255 "phased": true, | 364 "phased": true, |
| 256 "wildtypeAllele": "G", | 365 "wildtypeAllele": "G", |
| 257 "mismatch": false | 366 "mismatch": false, |
| 367 "warnings": [] | |
| 258 }, | 368 }, |
| 259 { | 369 { |
| 260 "gene": "CFTR", | 370 "gene": "CFTR", |
| 261 "chromosome": "chr7", | 371 "chromosome": "chr7", |
| 262 "position": 117534318, | 372 "position": 117534318, |
| 265 "alleles": [ | 375 "alleles": [ |
| 266 "G178R" | 376 "G178R" |
| 267 ], | 377 ], |
| 268 "phased": true, | 378 "phased": true, |
| 269 "wildtypeAllele": "G", | 379 "wildtypeAllele": "G", |
| 270 "mismatch": false | 380 "mismatch": false, |
| 381 "warnings": [] | |
| 271 }, | 382 }, |
| 272 { | 383 { |
| 273 "gene": "CFTR", | 384 "gene": "CFTR", |
| 274 "chromosome": "chr7", | 385 "chromosome": "chr7", |
| 275 "position": 117534363, | 386 "position": 117534363, |
| 278 "alleles": [ | 389 "alleles": [ |
| 279 "E193K" | 390 "E193K" |
| 280 ], | 391 ], |
| 281 "phased": true, | 392 "phased": true, |
| 282 "wildtypeAllele": "G", | 393 "wildtypeAllele": "G", |
| 283 "mismatch": false | 394 "mismatch": false, |
| 395 "warnings": [] | |
| 284 }, | 396 }, |
| 285 { | 397 { |
| 286 "gene": "CFTR", | 398 "gene": "CFTR", |
| 287 "chromosome": "chr7", | 399 "chromosome": "chr7", |
| 288 "position": 117534368, | 400 "position": 117534368, |
| 291 "alleles": [ | 403 "alleles": [ |
| 292 "711+3A-\u003eG" | 404 "711+3A-\u003eG" |
| 293 ], | 405 ], |
| 294 "phased": true, | 406 "phased": true, |
| 295 "wildtypeAllele": "A", | 407 "wildtypeAllele": "A", |
| 296 "mismatch": false | 408 "mismatch": false, |
| 409 "warnings": [] | |
| 297 }, | 410 }, |
| 298 { | 411 { |
| 299 "gene": "CFTR", | 412 "gene": "CFTR", |
| 300 "chromosome": "chr7", | 413 "chromosome": "chr7", |
| 301 "position": 117535285, | 414 "position": 117535285, |
| 304 "alleles": [ | 417 "alleles": [ |
| 305 "L206W" | 418 "L206W" |
| 306 ], | 419 ], |
| 307 "phased": true, | 420 "phased": true, |
| 308 "wildtypeAllele": "T", | 421 "wildtypeAllele": "T", |
| 309 "mismatch": false | 422 "mismatch": false, |
| 423 "warnings": [] | |
| 310 }, | 424 }, |
| 311 { | 425 { |
| 312 "gene": "CFTR", | 426 "gene": "CFTR", |
| 313 "chromosome": "chr7", | 427 "chromosome": "chr7", |
| 314 "position": 117540270, | 428 "position": 117540270, |
| 317 "alleles": [ | 431 "alleles": [ |
| 318 "R347H" | 432 "R347H" |
| 319 ], | 433 ], |
| 320 "phased": true, | 434 "phased": true, |
| 321 "wildtypeAllele": "G", | 435 "wildtypeAllele": "G", |
| 322 "mismatch": false | 436 "mismatch": false, |
| 437 "warnings": [] | |
| 323 }, | 438 }, |
| 324 { | 439 { |
| 325 "gene": "CFTR", | 440 "gene": "CFTR", |
| 326 "chromosome": "chr7", | 441 "chromosome": "chr7", |
| 327 "position": 117540285, | 442 "position": 117540285, |
| 330 "alleles": [ | 445 "alleles": [ |
| 331 "R352Q" | 446 "R352Q" |
| 332 ], | 447 ], |
| 333 "phased": true, | 448 "phased": true, |
| 334 "wildtypeAllele": "G", | 449 "wildtypeAllele": "G", |
| 335 "mismatch": false | 450 "mismatch": false, |
| 451 "warnings": [] | |
| 336 }, | 452 }, |
| 337 { | 453 { |
| 338 "gene": "CFTR", | 454 "gene": "CFTR", |
| 339 "chromosome": "chr7", | 455 "chromosome": "chr7", |
| 340 "position": 117548795, | 456 "position": 117548795, |
| 343 "alleles": [ | 459 "alleles": [ |
| 344 "A455E" | 460 "A455E" |
| 345 ], | 461 ], |
| 346 "phased": true, | 462 "phased": true, |
| 347 "wildtypeAllele": "C", | 463 "wildtypeAllele": "C", |
| 348 "mismatch": false | 464 "mismatch": false, |
| 465 "warnings": [] | |
| 349 }, | 466 }, |
| 350 { | 467 { |
| 351 "gene": "CFTR", | 468 "gene": "CFTR", |
| 352 "chromosome": "chr7", | 469 "chromosome": "chr7", |
| 353 "position": 117587799, | 470 "position": 117587799, |
| 356 "alleles": [ | 473 "alleles": [ |
| 357 "S549R(A\u003eC)" | 474 "S549R(A\u003eC)" |
| 358 ], | 475 ], |
| 359 "phased": true, | 476 "phased": true, |
| 360 "wildtypeAllele": "A", | 477 "wildtypeAllele": "A", |
| 361 "mismatch": false | 478 "mismatch": false, |
| 479 "warnings": [] | |
| 362 }, | 480 }, |
| 363 { | 481 { |
| 364 "gene": "CFTR", | 482 "gene": "CFTR", |
| 365 "chromosome": "chr7", | 483 "chromosome": "chr7", |
| 366 "position": 117587800, | 484 "position": 117587800, |
| 369 "alleles": [ | 487 "alleles": [ |
| 370 "S549N" | 488 "S549N" |
| 371 ], | 489 ], |
| 372 "phased": true, | 490 "phased": true, |
| 373 "wildtypeAllele": "G", | 491 "wildtypeAllele": "G", |
| 374 "mismatch": false | 492 "mismatch": false, |
| 493 "warnings": [] | |
| 375 }, | 494 }, |
| 376 { | 495 { |
| 377 "gene": "CFTR", | 496 "gene": "CFTR", |
| 378 "chromosome": "chr7", | 497 "chromosome": "chr7", |
| 379 "position": 117587801, | 498 "position": 117587801, |
| 382 "alleles": [ | 501 "alleles": [ |
| 383 "S549R(T\u003eG)" | 502 "S549R(T\u003eG)" |
| 384 ], | 503 ], |
| 385 "phased": true, | 504 "phased": true, |
| 386 "wildtypeAllele": "T", | 505 "wildtypeAllele": "T", |
| 387 "mismatch": false | 506 "mismatch": false, |
| 507 "warnings": [] | |
| 388 }, | 508 }, |
| 389 { | 509 { |
| 390 "gene": "CFTR", | 510 "gene": "CFTR", |
| 391 "chromosome": "chr7", | 511 "chromosome": "chr7", |
| 392 "position": 117587805, | 512 "position": 117587805, |
| 395 "alleles": [ | 515 "alleles": [ |
| 396 "G551S" | 516 "G551S" |
| 397 ], | 517 ], |
| 398 "phased": true, | 518 "phased": true, |
| 399 "wildtypeAllele": "G", | 519 "wildtypeAllele": "G", |
| 400 "mismatch": false | 520 "mismatch": false, |
| 521 "warnings": [] | |
| 401 }, | 522 }, |
| 402 { | 523 { |
| 403 "gene": "CFTR", | 524 "gene": "CFTR", |
| 404 "chromosome": "chr7", | 525 "chromosome": "chr7", |
| 405 "position": 117587806, | 526 "position": 117587806, |
| 408 "alleles": [ | 529 "alleles": [ |
| 409 "G551D" | 530 "G551D" |
| 410 ], | 531 ], |
| 411 "phased": true, | 532 "phased": true, |
| 412 "wildtypeAllele": "G", | 533 "wildtypeAllele": "G", |
| 413 "mismatch": false | 534 "mismatch": false, |
| 535 "warnings": [] | |
| 414 }, | 536 }, |
| 415 { | 537 { |
| 416 "gene": "CFTR", | 538 "gene": "CFTR", |
| 417 "chromosome": "chr7", | 539 "chromosome": "chr7", |
| 418 "position": 117590409, | 540 "position": 117590409, |
| 421 "alleles": [ | 543 "alleles": [ |
| 422 "D579G" | 544 "D579G" |
| 423 ], | 545 ], |
| 424 "phased": true, | 546 "phased": true, |
| 425 "wildtypeAllele": "A", | 547 "wildtypeAllele": "A", |
| 426 "mismatch": false | 548 "mismatch": false, |
| 549 "warnings": [] | |
| 427 }, | 550 }, |
| 428 { | 551 { |
| 429 "gene": "CFTR", | 552 "gene": "CFTR", |
| 430 "chromosome": "chr7", | 553 "chromosome": "chr7", |
| 431 "position": 117594930, | 554 "position": 117594930, |
| 434 "alleles": [ | 557 "alleles": [ |
| 435 "E831X" | 558 "E831X" |
| 436 ], | 559 ], |
| 437 "phased": true, | 560 "phased": true, |
| 438 "wildtypeAllele": "G", | 561 "wildtypeAllele": "G", |
| 439 "mismatch": false | 562 "mismatch": false, |
| 563 "warnings": [] | |
| 440 }, | 564 }, |
| 441 { | 565 { |
| 442 "gene": "CFTR", | 566 "gene": "CFTR", |
| 443 "chromosome": "chr7", | 567 "chromosome": "chr7", |
| 444 "position": 117602868, | 568 "position": 117602868, |
| 447 "alleles": [ | 571 "alleles": [ |
| 448 "2789+5G-\u003eA" | 572 "2789+5G-\u003eA" |
| 449 ], | 573 ], |
| 450 "phased": true, | 574 "phased": true, |
| 451 "wildtypeAllele": "G", | 575 "wildtypeAllele": "G", |
| 452 "mismatch": false | 576 "mismatch": false, |
| 577 "warnings": [] | |
| 453 }, | 578 }, |
| 454 { | 579 { |
| 455 "gene": "CFTR", | 580 "gene": "CFTR", |
| 456 "chromosome": "chr7", | 581 "chromosome": "chr7", |
| 457 "position": 117603708, | 582 "position": 117603708, |
| 460 "alleles": [ | 585 "alleles": [ |
| 461 "S945L" | 586 "S945L" |
| 462 ], | 587 ], |
| 463 "phased": true, | 588 "phased": true, |
| 464 "wildtypeAllele": "C", | 589 "wildtypeAllele": "C", |
| 465 "mismatch": false | 590 "mismatch": false, |
| 591 "warnings": [] | |
| 466 }, | 592 }, |
| 467 { | 593 { |
| 468 "gene": "CFTR", | 594 "gene": "CFTR", |
| 469 "chromosome": "chr7", | 595 "chromosome": "chr7", |
| 470 "position": 117606695, | 596 "position": 117606695, |
| 473 "alleles": [ | 599 "alleles": [ |
| 474 "S977F" | 600 "S977F" |
| 475 ], | 601 ], |
| 476 "phased": true, | 602 "phased": true, |
| 477 "wildtypeAllele": "C", | 603 "wildtypeAllele": "C", |
| 478 "mismatch": false | 604 "mismatch": false, |
| 605 "warnings": [] | |
| 479 }, | 606 }, |
| 480 { | 607 { |
| 481 "gene": "CFTR", | 608 "gene": "CFTR", |
| 482 "chromosome": "chr7", | 609 "chromosome": "chr7", |
| 483 "position": 117611555, | 610 "position": 117611555, |
| 486 "alleles": [ | 613 "alleles": [ |
| 487 "3272-26A-\u003eG" | 614 "3272-26A-\u003eG" |
| 488 ], | 615 ], |
| 489 "phased": true, | 616 "phased": true, |
| 490 "wildtypeAllele": "A", | 617 "wildtypeAllele": "A", |
| 491 "mismatch": false | 618 "mismatch": false, |
| 619 "warnings": [] | |
| 492 }, | 620 }, |
| 493 { | 621 { |
| 494 "gene": "CFTR", | 622 "gene": "CFTR", |
| 495 "chromosome": "chr7", | 623 "chromosome": "chr7", |
| 496 "position": 117611595, | 624 "position": 117611595, |
| 499 "alleles": [ | 627 "alleles": [ |
| 500 "F1052V" | 628 "F1052V" |
| 501 ], | 629 ], |
| 502 "phased": true, | 630 "phased": true, |
| 503 "wildtypeAllele": "T", | 631 "wildtypeAllele": "T", |
| 504 "mismatch": false | 632 "mismatch": false, |
| 633 "warnings": [] | |
| 505 }, | 634 }, |
| 506 { | 635 { |
| 507 "gene": "CFTR", | 636 "gene": "CFTR", |
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| 801 "warnings": [] | |
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| 850 "Normal Metabolizer" | |
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| 854 "Normal Metabolizer" | |
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| 875 "Normal Metabolizer" | |
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| 879 "Normal Metabolizer" | |
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| 828 "mismatch": false | 984 "mismatch": false, |
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| 880 "mismatch": false | 1040 "mismatch": false, |
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| 882 { | 1043 { |
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| 893 "mismatch": false | 1054 "mismatch": false, |
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| 920 "mismatch": false | 1083 "mismatch": false, |
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| 933 "mismatch": false | 1097 "mismatch": false, |
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| 959 "mismatch": false | 1125 "mismatch": false, |
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| 984 { | 1152 { |
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| 997 { | 1166 { |
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| 1011 { | 1181 { |
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| 1045 "wildtypeAllele": "A", | 1216 "wildtypeAllele": "A", |
| 1046 "mismatch": false | 1217 "mismatch": false, |
| 1218 "warnings": [] | |
| 1047 }, | 1219 }, |
| 1048 { | 1220 { |
| 1049 "gene": "CYP2B6", | 1221 "gene": "CYP2B6", |
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| 1057 "phased": true, | 1229 "phased": true, |
| 1058 "wildtypeAllele": "G", | 1230 "wildtypeAllele": "G", |
| 1059 "mismatch": false | 1231 "mismatch": false, |
| 1232 "warnings": [] | |
| 1060 }, | 1233 }, |
| 1061 { | 1234 { |
| 1062 "gene": "CYP2B6", | 1235 "gene": "CYP2B6", |
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| 1071 "wildtypeAllele": "C", | 1244 "wildtypeAllele": "C", |
| 1072 "mismatch": false | 1245 "mismatch": false, |
| 1246 "warnings": [] | |
| 1073 }, | 1247 }, |
| 1074 { | 1248 { |
| 1075 "gene": "CYP2B6", | 1249 "gene": "CYP2B6", |
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| 1083 "phased": true, | 1257 "phased": true, |
| 1084 "wildtypeAllele": "C", | 1258 "wildtypeAllele": "C", |
| 1085 "mismatch": false | 1259 "mismatch": false, |
| 1260 "warnings": [] | |
| 1086 }, | 1261 }, |
| 1087 { | 1262 { |
| 1088 "gene": "CYP2B6", | 1263 "gene": "CYP2B6", |
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| 1094 "*18" | 1269 "*18" |
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| 1096 "phased": true, | 1271 "phased": true, |
| 1097 "wildtypeAllele": "T", | 1272 "wildtypeAllele": "T", |
| 1098 "mismatch": false | 1273 "mismatch": false, |
| 1274 "warnings": [] | |
| 1099 }, | 1275 }, |
| 1100 { | 1276 { |
| 1101 "gene": "CYP2B6", | 1277 "gene": "CYP2B6", |
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| 1107 "*19" | 1283 "*19" |
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| 1109 "phased": true, | 1285 "phased": true, |
| 1110 "wildtypeAllele": "C", | 1286 "wildtypeAllele": "C", |
| 1111 "mismatch": false | 1287 "mismatch": false, |
| 1288 "warnings": [] | |
| 1112 }, | 1289 }, |
| 1113 { | 1290 { |
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| 1120 "*28" | 1297 "*28" |
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| 1122 "phased": true, | 1299 "phased": true, |
| 1123 "wildtypeAllele": "C", | 1300 "wildtypeAllele": "C", |
| 1124 "mismatch": false | 1301 "mismatch": false, |
| 1302 "warnings": [] | |
| 1125 }, | 1303 }, |
| 1126 { | 1304 { |
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| 1128 "chromosome": "chr19", | 1306 "chromosome": "chr19", |
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| 1133 "*15" | 1311 "*15" |
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| 1135 "phased": true, | 1313 "phased": true, |
| 1136 "wildtypeAllele": "T", | 1314 "wildtypeAllele": "T", |
| 1137 "mismatch": false | 1315 "mismatch": false, |
| 1316 "warnings": [] | |
| 1138 }, | 1317 }, |
| 1139 { | 1318 { |
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| 1146 "*32" | 1325 "*32" |
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| 1148 "phased": true, | 1327 "phased": true, |
| 1149 "wildtypeAllele": "G", | 1328 "wildtypeAllele": "G", |
| 1150 "mismatch": false | 1329 "mismatch": false, |
| 1330 "warnings": [] | |
| 1151 }, | 1331 }, |
| 1152 { | 1332 { |
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| 1159 "*21" | 1339 "*21" |
| 1160 ], | 1340 ], |
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| 1162 "wildtypeAllele": "C", | 1342 "wildtypeAllele": "C", |
| 1163 "mismatch": false | 1343 "mismatch": false, |
| 1344 "warnings": [] | |
| 1164 }, | 1345 }, |
| 1165 { | 1346 { |
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| 1172 "*23" | 1353 "*23" |
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| 1175 "wildtypeAllele": "A", | 1356 "wildtypeAllele": "A", |
| 1176 "mismatch": false | 1357 "mismatch": false, |
| 1358 "warnings": [] | |
| 1177 }, | 1359 }, |
| 1178 { | 1360 { |
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| 1180 "chromosome": "chr19", | 1362 "chromosome": "chr19", |
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| 1185 "*24" | 1367 "*24" |
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| 1188 "wildtypeAllele": "G", | 1370 "wildtypeAllele": "G", |
| 1189 "mismatch": false | 1371 "mismatch": false, |
| 1372 "warnings": [] | |
| 1190 }, | 1373 }, |
| 1191 { | 1374 { |
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| 1200 "phased": true, | 1383 "phased": true, |
| 1201 "wildtypeAllele": "A", | 1384 "wildtypeAllele": "A", |
| 1202 "mismatch": false | 1385 "mismatch": false, |
| 1386 "warnings": [] | |
| 1203 }, | 1387 }, |
| 1204 { | 1388 { |
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| 1214 "*34" | 1398 "*34" |
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| 1218 "mismatch": false | 1402 "mismatch": false, |
| 1403 "warnings": [] | |
| 1219 } | 1404 } |
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| 1221 "variantsOfInterest": [], | 1406 "variantsOfInterest": [], |
| 1222 "highlightedVariants": [] | 1407 "highlightedVariants": [] |
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| 1299 "name": "*38", | 1484 "name": "*38", |
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| 1303 "gene": "CYP2C19", | 1488 "gene": "CYP2C19", |
| 1304 "phenotype": "Normal Metabolizer", | 1489 "phenotypes": [ |
| 1490 "Normal Metabolizer" | |
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| 1305 "variant": null, | 1492 "variant": null, |
| 1306 "lookupKey": "Normal Metabolizer", | 1493 "lookupKey": [ |
| 1494 "Normal Metabolizer" | |
| 1495 ], | |
| 1307 "label": "*38/*38" | 1496 "label": "*38/*38" |
| 1308 } | 1497 } |
| 1309 ], | 1498 ], |
| 1310 "diplotypes": [ | 1499 "diplotypes": [ |
| 1311 { | 1500 { |
| 1320 "name": "*38", | 1509 "name": "*38", |
| 1321 "function": "Normal function", | 1510 "function": "Normal function", |
| 1322 "reference": true | 1511 "reference": true |
| 1323 }, | 1512 }, |
| 1324 "gene": "CYP2C19", | 1513 "gene": "CYP2C19", |
| 1325 "phenotype": "Normal Metabolizer", | 1514 "phenotypes": [ |
| 1515 "Normal Metabolizer" | |
| 1516 ], | |
| 1326 "variant": null, | 1517 "variant": null, |
| 1327 "lookupKey": "Normal Metabolizer", | 1518 "lookupKey": [ |
| 1519 "Normal Metabolizer" | |
| 1520 ], | |
| 1328 "label": "*38/*38" | 1521 "label": "*38/*38" |
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| 1332 { | 1525 { |
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| 1343 "wildtypeAllele": "C", | 1536 "wildtypeAllele": "C", |
| 1344 "mismatch": false | 1537 "mismatch": false, |
| 1538 "warnings": [] | |
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| 1346 { | 1540 { |
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| 1353 "*4" | 1547 "*4" |
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| 1356 "wildtypeAllele": "A", | 1550 "wildtypeAllele": "A", |
| 1357 "mismatch": false | 1551 "mismatch": false, |
| 1552 "warnings": [] | |
| 1358 }, | 1553 }, |
| 1359 { | 1554 { |
| 1360 "gene": "CYP2C19", | 1555 "gene": "CYP2C19", |
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| 1366 "*34" | 1561 "*34" |
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| 1369 "wildtypeAllele": "C", | 1564 "wildtypeAllele": "C", |
| 1370 "mismatch": false | 1565 "mismatch": false, |
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| 1372 { | 1568 { |
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| 1379 "*34" | 1575 "*34" |
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| 1382 "wildtypeAllele": "T", | 1578 "wildtypeAllele": "T", |
| 1383 "mismatch": false | 1579 "mismatch": false, |
| 1580 "warnings": [] | |
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| 1385 { | 1582 { |
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| 1387 "chromosome": "chr10", | 1584 "chromosome": "chr10", |
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| 1392 "*14" | 1589 "*14" |
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| 1395 "wildtypeAllele": "T", | 1592 "wildtypeAllele": "T", |
| 1396 "mismatch": false | 1593 "mismatch": false, |
| 1594 "warnings": [] | |
| 1397 }, | 1595 }, |
| 1398 { | 1596 { |
| 1399 "gene": "CYP2C19", | 1597 "gene": "CYP2C19", |
| 1400 "chromosome": "chr10", | 1598 "chromosome": "chr10", |
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| 1407 "*35", | 1605 "*35", |
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| 1411 "wildtypeAllele": "A", | 1609 "wildtypeAllele": "A", |
| 1412 "mismatch": false | 1610 "mismatch": false, |
| 1611 "warnings": [] | |
| 1413 }, | 1612 }, |
| 1414 { | 1613 { |
| 1415 "gene": "CYP2C19", | 1614 "gene": "CYP2C19", |
| 1416 "chromosome": "chr10", | 1615 "chromosome": "chr10", |
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| 1421 "*29" | 1620 "*29" |
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| 1423 "phased": true, | 1622 "phased": true, |
| 1424 "wildtypeAllele": "A", | 1623 "wildtypeAllele": "A", |
| 1425 "mismatch": false | 1624 "mismatch": false, |
| 1625 "warnings": [] | |
| 1426 }, | 1626 }, |
| 1427 { | 1627 { |
| 1428 "gene": "CYP2C19", | 1628 "gene": "CYP2C19", |
| 1429 "chromosome": "chr10", | 1629 "chromosome": "chr10", |
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| 1434 "*19" | 1634 "*19" |
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| 1436 "phased": true, | 1636 "phased": true, |
| 1437 "wildtypeAllele": "A", | 1637 "wildtypeAllele": "A", |
| 1438 "mismatch": false | 1638 "mismatch": false, |
| 1639 "warnings": [] | |
| 1439 }, | 1640 }, |
| 1440 { | 1641 { |
| 1441 "gene": "CYP2C19", | 1642 "gene": "CYP2C19", |
| 1442 "chromosome": "chr10", | 1643 "chromosome": "chr10", |
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| 1447 "*30" | 1648 "*30" |
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| 1450 "wildtypeAllele": "C", | 1651 "wildtypeAllele": "C", |
| 1451 "mismatch": false | 1652 "mismatch": false, |
| 1653 "warnings": [] | |
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| 1453 { | 1655 { |
| 1454 "gene": "CYP2C19", | 1656 "gene": "CYP2C19", |
| 1455 "chromosome": "chr10", | 1657 "chromosome": "chr10", |
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| 1460 "*31" | 1662 "*31" |
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| 1462 "phased": true, | 1664 "phased": true, |
| 1463 "wildtypeAllele": "C", | 1665 "wildtypeAllele": "C", |
| 1464 "mismatch": false | 1666 "mismatch": false, |
| 1667 "warnings": [] | |
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| 1466 { | 1669 { |
| 1467 "gene": "CYP2C19", | 1670 "gene": "CYP2C19", |
| 1468 "chromosome": "chr10", | 1671 "chromosome": "chr10", |
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| 1473 "*23" | 1676 "*23" |
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| 1475 "phased": true, | 1678 "phased": true, |
| 1476 "wildtypeAllele": "G", | 1679 "wildtypeAllele": "G", |
| 1477 "mismatch": false | 1680 "mismatch": false, |
| 1681 "warnings": [] | |
| 1478 }, | 1682 }, |
| 1479 { | 1683 { |
| 1480 "gene": "CYP2C19", | 1684 "gene": "CYP2C19", |
| 1481 "chromosome": "chr10", | 1685 "chromosome": "chr10", |
| 1482 "position": 94775185, | 1686 "position": 94775185, |
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| 1486 "*32" | 1690 "*32" |
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| 1488 "phased": true, | 1692 "phased": true, |
| 1489 "wildtypeAllele": "A", | 1693 "wildtypeAllele": "A", |
| 1490 "mismatch": false | 1694 "mismatch": false, |
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| 1491 }, | 1696 }, |
| 1492 { | 1697 { |
| 1493 "gene": "CYP2C19", | 1698 "gene": "CYP2C19", |
| 1494 "chromosome": "chr10", | 1699 "chromosome": "chr10", |
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| 1499 "*2", | 1704 "*2", |
| 1500 "*35" | 1705 "*35" |
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| 1503 "wildtypeAllele": "A", | 1708 "wildtypeAllele": "A", |
| 1504 "mismatch": false | 1709 "mismatch": false, |
| 1710 "warnings": [] | |
| 1505 }, | 1711 }, |
| 1506 { | 1712 { |
| 1507 "gene": "CYP2C19", | 1713 "gene": "CYP2C19", |
| 1508 "chromosome": "chr10", | 1714 "chromosome": "chr10", |
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| 1513 "*8" | 1719 "*8" |
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| 1515 "phased": true, | 1721 "phased": true, |
| 1516 "wildtypeAllele": "T", | 1722 "wildtypeAllele": "T", |
| 1517 "mismatch": false | 1723 "mismatch": false, |
| 1724 "warnings": [] | |
| 1518 }, | 1725 }, |
| 1519 { | 1726 { |
| 1520 "gene": "CYP2C19", | 1727 "gene": "CYP2C19", |
| 1521 "chromosome": "chr10", | 1728 "chromosome": "chr10", |
| 1522 "position": 94775423, | 1729 "position": 94775423, |
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| 1526 "*39" | 1733 "*39" |
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| 1528 "phased": true, | 1735 "phased": true, |
| 1529 "wildtypeAllele": "A", | 1736 "wildtypeAllele": "A", |
| 1530 "mismatch": false | 1737 "mismatch": false, |
| 1738 "warnings": [] | |
| 1531 }, | 1739 }, |
| 1532 { | 1740 { |
| 1533 "gene": "CYP2C19", | 1741 "gene": "CYP2C19", |
| 1534 "chromosome": "chr10", | 1742 "chromosome": "chr10", |
| 1535 "position": 94775453, | 1743 "position": 94775453, |
| 1538 "alleles": [ | 1746 "alleles": [ |
| 1539 "*6" | 1747 "*6" |
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| 1541 "phased": true, | 1749 "phased": true, |
| 1542 "wildtypeAllele": "G", | 1750 "wildtypeAllele": "G", |
| 1543 "mismatch": false | 1751 "mismatch": false, |
| 1752 "warnings": [] | |
| 1544 }, | 1753 }, |
| 1545 { | 1754 { |
| 1546 "gene": "CYP2C19", | 1755 "gene": "CYP2C19", |
| 1547 "chromosome": "chr10", | 1756 "chromosome": "chr10", |
| 1548 "position": 94775489, | 1757 "position": 94775489, |
| 1551 "alleles": [ | 1760 "alleles": [ |
| 1552 "*9" | 1761 "*9" |
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| 1554 "phased": true, | 1763 "phased": true, |
| 1555 "wildtypeAllele": "G", | 1764 "wildtypeAllele": "G", |
| 1556 "mismatch": false | 1765 "mismatch": false, |
| 1766 "warnings": [] | |
| 1557 }, | 1767 }, |
| 1558 { | 1768 { |
| 1559 "gene": "CYP2C19", | 1769 "gene": "CYP2C19", |
| 1560 "chromosome": "chr10", | 1770 "chromosome": "chr10", |
| 1561 "position": 94775507, | 1771 "position": 94775507, |
| 1565 "*2", | 1775 "*2", |
| 1566 "*11" | 1776 "*11" |
| 1567 ], | 1777 ], |
| 1568 "phased": true, | 1778 "phased": true, |
| 1569 "wildtypeAllele": "G", | 1779 "wildtypeAllele": "G", |
| 1570 "mismatch": false | 1780 "mismatch": false, |
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| 1571 }, | 1782 }, |
| 1572 { | 1783 { |
| 1573 "gene": "CYP2C19", | 1784 "gene": "CYP2C19", |
| 1574 "chromosome": "chr10", | 1785 "chromosome": "chr10", |
| 1575 "position": 94780574, | 1786 "position": 94780574, |
| 1578 "alleles": [ | 1789 "alleles": [ |
| 1579 "*22" | 1790 "*22" |
| 1580 ], | 1791 ], |
| 1581 "phased": true, | 1792 "phased": true, |
| 1582 "wildtypeAllele": "G", | 1793 "wildtypeAllele": "G", |
| 1583 "mismatch": false | 1794 "mismatch": false, |
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| 1584 }, | 1796 }, |
| 1585 { | 1797 { |
| 1586 "gene": "CYP2C19", | 1798 "gene": "CYP2C19", |
| 1587 "chromosome": "chr10", | 1799 "chromosome": "chr10", |
| 1588 "position": 94780579, | 1800 "position": 94780579, |
| 1591 "alleles": [ | 1803 "alleles": [ |
| 1592 "*33" | 1804 "*33" |
| 1593 ], | 1805 ], |
| 1594 "phased": true, | 1806 "phased": true, |
| 1595 "wildtypeAllele": "G", | 1807 "wildtypeAllele": "G", |
| 1596 "mismatch": false | 1808 "mismatch": false, |
| 1809 "warnings": [] | |
| 1597 }, | 1810 }, |
| 1598 { | 1811 { |
| 1599 "gene": "CYP2C19", | 1812 "gene": "CYP2C19", |
| 1600 "chromosome": "chr10", | 1813 "chromosome": "chr10", |
| 1601 "position": 94780653, | 1814 "position": 94780653, |
| 1604 "alleles": [ | 1817 "alleles": [ |
| 1605 "*3" | 1818 "*3" |
| 1606 ], | 1819 ], |
| 1607 "phased": true, | 1820 "phased": true, |
| 1608 "wildtypeAllele": "G", | 1821 "wildtypeAllele": "G", |
| 1609 "mismatch": false | 1822 "mismatch": false, |
| 1823 "warnings": [] | |
| 1610 }, | 1824 }, |
| 1611 { | 1825 { |
| 1612 "gene": "CYP2C19", | 1826 "gene": "CYP2C19", |
| 1613 "chromosome": "chr10", | 1827 "chromosome": "chr10", |
| 1614 "position": 94781858, | 1828 "position": 94781858, |
| 1617 "alleles": [ | 1831 "alleles": [ |
| 1618 "*10" | 1832 "*10" |
| 1619 ], | 1833 ], |
| 1620 "phased": true, | 1834 "phased": true, |
| 1621 "wildtypeAllele": "C", | 1835 "wildtypeAllele": "C", |
| 1622 "mismatch": false | 1836 "mismatch": false, |
| 1837 "warnings": [] | |
| 1623 }, | 1838 }, |
| 1624 { | 1839 { |
| 1625 "gene": "CYP2C19", | 1840 "gene": "CYP2C19", |
| 1626 "chromosome": "chr10", | 1841 "chromosome": "chr10", |
| 1627 "position": 94781859, | 1842 "position": 94781859, |
| 1630 "alleles": [ | 1845 "alleles": [ |
| 1631 "*2" | 1846 "*2" |
| 1632 ], | 1847 ], |
| 1633 "phased": true, | 1848 "phased": true, |
| 1634 "wildtypeAllele": "G", | 1849 "wildtypeAllele": "G", |
| 1635 "mismatch": false | 1850 "mismatch": false, |
| 1851 "warnings": [] | |
| 1636 }, | 1852 }, |
| 1637 { | 1853 { |
| 1638 "gene": "CYP2C19", | 1854 "gene": "CYP2C19", |
| 1639 "chromosome": "chr10", | 1855 "chromosome": "chr10", |
| 1640 "position": 94781944, | 1856 "position": 94781944, |
| 1643 "alleles": [ | 1859 "alleles": [ |
| 1644 "*26" | 1860 "*26" |
| 1645 ], | 1861 ], |
| 1646 "phased": true, | 1862 "phased": true, |
| 1647 "wildtypeAllele": "G", | 1863 "wildtypeAllele": "G", |
| 1648 "mismatch": false | 1864 "mismatch": false, |
| 1865 "warnings": [] | |
| 1649 }, | 1866 }, |
| 1650 { | 1867 { |
| 1651 "gene": "CYP2C19", | 1868 "gene": "CYP2C19", |
| 1652 "chromosome": "chr10", | 1869 "chromosome": "chr10", |
| 1653 "position": 94781999, | 1870 "position": 94781999, |
| 1656 "alleles": [ | 1873 "alleles": [ |
| 1657 "*7" | 1874 "*7" |
| 1658 ], | 1875 ], |
| 1659 "phased": true, | 1876 "phased": true, |
| 1660 "wildtypeAllele": "T", | 1877 "wildtypeAllele": "T", |
| 1661 "mismatch": false | 1878 "mismatch": false, |
| 1879 "warnings": [] | |
| 1662 }, | 1880 }, |
| 1663 { | 1881 { |
| 1664 "gene": "CYP2C19", | 1882 "gene": "CYP2C19", |
| 1665 "chromosome": "chr10", | 1883 "chromosome": "chr10", |
| 1666 "position": 94842861, | 1884 "position": 94842861, |
| 1669 "alleles": [ | 1887 "alleles": [ |
| 1670 "*18" | 1888 "*18" |
| 1671 ], | 1889 ], |
| 1672 "phased": true, | 1890 "phased": true, |
| 1673 "wildtypeAllele": "G", | 1891 "wildtypeAllele": "G", |
| 1674 "mismatch": false | 1892 "mismatch": false, |
| 1893 "warnings": [] | |
| 1675 }, | 1894 }, |
| 1676 { | 1895 { |
| 1677 "gene": "CYP2C19", | 1896 "gene": "CYP2C19", |
| 1678 "chromosome": "chr10", | 1897 "chromosome": "chr10", |
| 1679 "position": 94842866, | 1898 "position": 94842866, |
| 1709 "*35", | 1928 "*35", |
| 1710 "*39" | 1929 "*39" |
| 1711 ], | 1930 ], |
| 1712 "phased": true, | 1931 "phased": true, |
| 1713 "wildtypeAllele": "A", | 1932 "wildtypeAllele": "A", |
| 1714 "mismatch": false | 1933 "mismatch": false, |
| 1934 "warnings": [] | |
| 1715 }, | 1935 }, |
| 1716 { | 1936 { |
| 1717 "gene": "CYP2C19", | 1937 "gene": "CYP2C19", |
| 1718 "chromosome": "chr10", | 1938 "chromosome": "chr10", |
| 1719 "position": 94842879, | 1939 "position": 94842879, |
| 1722 "alleles": [ | 1942 "alleles": [ |
| 1723 "*24" | 1943 "*24" |
| 1724 ], | 1944 ], |
| 1725 "phased": true, | 1945 "phased": true, |
| 1726 "wildtypeAllele": "G", | 1946 "wildtypeAllele": "G", |
| 1727 "mismatch": false | 1947 "mismatch": false, |
| 1948 "warnings": [] | |
| 1728 }, | 1949 }, |
| 1729 { | 1950 { |
| 1730 "gene": "CYP2C19", | 1951 "gene": "CYP2C19", |
| 1731 "chromosome": "chr10", | 1952 "chromosome": "chr10", |
| 1732 "position": 94842995, | 1953 "position": 94842995, |
| 1735 "alleles": [ | 1956 "alleles": [ |
| 1736 "*28" | 1957 "*28" |
| 1737 ], | 1958 ], |
| 1738 "phased": true, | 1959 "phased": true, |
| 1739 "wildtypeAllele": "G", | 1960 "wildtypeAllele": "G", |
| 1740 "mismatch": false | 1961 "mismatch": false, |
| 1962 "warnings": [] | |
| 1741 }, | 1963 }, |
| 1742 { | 1964 { |
| 1743 "gene": "CYP2C19", | 1965 "gene": "CYP2C19", |
| 1744 "chromosome": "chr10", | 1966 "chromosome": "chr10", |
| 1745 "position": 94849995, | 1967 "position": 94849995, |
| 1748 "alleles": [ | 1970 "alleles": [ |
| 1749 "*13" | 1971 "*13" |
| 1750 ], | 1972 ], |
| 1751 "phased": true, | 1973 "phased": true, |
| 1752 "wildtypeAllele": "C", | 1974 "wildtypeAllele": "C", |
| 1753 "mismatch": false | 1975 "mismatch": false, |
| 1976 "warnings": [] | |
| 1754 }, | 1977 }, |
| 1755 { | 1978 { |
| 1756 "gene": "CYP2C19", | 1979 "gene": "CYP2C19", |
| 1757 "chromosome": "chr10", | 1980 "chromosome": "chr10", |
| 1758 "position": 94852738, | 1981 "position": 94852738, |
| 1761 "alleles": [ | 1984 "alleles": [ |
| 1762 "*5" | 1985 "*5" |
| 1763 ], | 1986 ], |
| 1764 "phased": true, | 1987 "phased": true, |
| 1765 "wildtypeAllele": "C", | 1988 "wildtypeAllele": "C", |
| 1766 "mismatch": false | 1989 "mismatch": false, |
| 1990 "warnings": [] | |
| 1767 }, | 1991 }, |
| 1768 { | 1992 { |
| 1769 "gene": "CYP2C19", | 1993 "gene": "CYP2C19", |
| 1770 "chromosome": "chr10", | 1994 "chromosome": "chr10", |
| 1771 "position": 94852765, | 1995 "position": 94852765, |
| 1774 "alleles": [ | 1998 "alleles": [ |
| 1775 "*16" | 1999 "*16" |
| 1776 ], | 2000 ], |
| 1777 "phased": true, | 2001 "phased": true, |
| 1778 "wildtypeAllele": "C", | 2002 "wildtypeAllele": "C", |
| 1779 "mismatch": false | 2003 "mismatch": false, |
| 2004 "warnings": [] | |
| 1780 }, | 2005 }, |
| 1781 { | 2006 { |
| 1782 "gene": "CYP2C19", | 2007 "gene": "CYP2C19", |
| 1783 "chromosome": "chr10", | 2008 "chromosome": "chr10", |
| 1784 "position": 94852785, | 2009 "position": 94852785, |
| 1787 "alleles": [ | 2012 "alleles": [ |
| 1788 "*25" | 2013 "*25" |
| 1789 ], | 2014 ], |
| 1790 "phased": true, | 2015 "phased": true, |
| 1791 "wildtypeAllele": "C", | 2016 "wildtypeAllele": "C", |
| 1792 "mismatch": false | 2017 "mismatch": false, |
| 2018 "warnings": [] | |
| 1793 }, | 2019 }, |
| 1794 { | 2020 { |
| 1795 "gene": "CYP2C19", | 2021 "gene": "CYP2C19", |
| 1796 "chromosome": "chr10", | 2022 "chromosome": "chr10", |
| 1797 "position": 94852914, | 2023 "position": 94852914, |
| 1800 "alleles": [ | 2026 "alleles": [ |
| 1801 "*12" | 2027 "*12" |
| 1802 ], | 2028 ], |
| 1803 "phased": true, | 2029 "phased": true, |
| 1804 "wildtypeAllele": "A", | 2030 "wildtypeAllele": "A", |
| 1805 "mismatch": false | 2031 "mismatch": false, |
| 2032 "warnings": [] | |
| 1806 } | 2033 } |
| 1807 ], | 2034 ], |
| 1808 "variantsOfInterest": [], | 2035 "variantsOfInterest": [], |
| 1809 "highlightedVariants": [] | 2036 "highlightedVariants": [] |
| 1810 }, | 2037 }, |
| 1815 "callSource": "MATCHER", | 2042 "callSource": "MATCHER", |
| 1816 "uncalledHaplotypes": [ | 2043 "uncalledHaplotypes": [ |
| 1817 "*72", | 2044 "*72", |
| 1818 "*73", | 2045 "*73", |
| 1819 "*74", | 2046 "*74", |
| 1820 "*75" | 2047 "*75", |
| 2048 "*76", | |
| 2049 "*77", | |
| 2050 "*78", | |
| 2051 "*79", | |
| 2052 "*80", | |
| 2053 "*81", | |
| 2054 "*82", | |
| 2055 "*83", | |
| 2056 "*84", | |
| 2057 "*85" | |
| 1821 ], | 2058 ], |
| 1822 "messages": [], | 2059 "messages": [], |
| 1823 "relatedDrugs": [ | 2060 "relatedDrugs": [ |
| 1824 { | 2061 { |
| 1825 "name": "celecoxib", | 2062 "name": "celecoxib", |
| 1828 { | 2065 { |
| 1829 "name": "flurbiprofen", | 2066 "name": "flurbiprofen", |
| 1830 "guidelineId": "RxNorm:4502" | 2067 "guidelineId": "RxNorm:4502" |
| 1831 }, | 2068 }, |
| 1832 { | 2069 { |
| 2070 "name": "fluvastatin", | |
| 2071 "guidelineId": "RxNorm:41127" | |
| 2072 }, | |
| 2073 { | |
| 2074 "name": "fosphenytoin", | |
| 2075 "guidelineId": "RxNorm:72236" | |
| 2076 }, | |
| 2077 { | |
| 1833 "name": "ibuprofen", | 2078 "name": "ibuprofen", |
| 1834 "guidelineId": "RxNorm:5640" | 2079 "guidelineId": "RxNorm:5640" |
| 1835 }, | 2080 }, |
| 1836 { | 2081 { |
| 1837 "name": "lornoxicam", | 2082 "name": "lornoxicam", |
| 1838 "guidelineId": "RxNorm:20890" | 2083 "guidelineId": "RxNorm:20890" |
| 1839 }, | 2084 }, |
| 1840 { | 2085 { |
| 1841 "name": "meloxicam", | 2086 "name": "meloxicam", |
| 1842 "guidelineId": "RxNorm:41493" | 2087 "guidelineId": "RxNorm:41493" |
| 2088 }, | |
| 2089 { | |
| 2090 "name": "phenytoin", | |
| 2091 "guidelineId": "RxNorm:8183" | |
| 1843 }, | 2092 }, |
| 1844 { | 2093 { |
| 1845 "name": "piroxicam", | 2094 "name": "piroxicam", |
| 1846 "guidelineId": "RxNorm:8356" | 2095 "guidelineId": "RxNorm:8356" |
| 1847 }, | 2096 }, |
| 1867 "name": "*1", | 2116 "name": "*1", |
| 1868 "function": "Normal function", | 2117 "function": "Normal function", |
| 1869 "reference": true | 2118 "reference": true |
| 1870 }, | 2119 }, |
| 1871 "gene": "CYP2C9", | 2120 "gene": "CYP2C9", |
| 1872 "phenotype": "Normal Metabolizer", | 2121 "phenotypes": [ |
| 2122 "Normal Metabolizer" | |
| 2123 ], | |
| 1873 "variant": null, | 2124 "variant": null, |
| 1874 "lookupKey": "2", | 2125 "lookupKey": [ |
| 2126 "2" | |
| 2127 ], | |
| 1875 "label": "*1/*1" | 2128 "label": "*1/*1" |
| 1876 } | 2129 } |
| 1877 ], | 2130 ], |
| 1878 "diplotypes": [ | 2131 "diplotypes": [ |
| 1879 { | 2132 { |
| 1888 "name": "*1", | 2141 "name": "*1", |
| 1889 "function": "Normal function", | 2142 "function": "Normal function", |
| 1890 "reference": true | 2143 "reference": true |
| 1891 }, | 2144 }, |
| 1892 "gene": "CYP2C9", | 2145 "gene": "CYP2C9", |
| 1893 "phenotype": "Normal Metabolizer", | 2146 "phenotypes": [ |
| 2147 "Normal Metabolizer" | |
| 2148 ], | |
| 1894 "variant": null, | 2149 "variant": null, |
| 1895 "lookupKey": "2", | 2150 "lookupKey": [ |
| 2151 "2" | |
| 2152 ], | |
| 1896 "label": "*1/*1" | 2153 "label": "*1/*1" |
| 1897 } | 2154 } |
| 1898 ], | 2155 ], |
| 1899 "variants": [ | 2156 "variants": [ |
| 1900 { | 2157 { |
| 1906 "alleles": [ | 2163 "alleles": [ |
| 1907 "*36" | 2164 "*36" |
| 1908 ], | 2165 ], |
| 1909 "phased": true, | 2166 "phased": true, |
| 1910 "wildtypeAllele": "A", | 2167 "wildtypeAllele": "A", |
| 1911 "mismatch": false | 2168 "mismatch": false, |
| 2169 "warnings": [] | |
| 1912 }, | 2170 }, |
| 1913 { | 2171 { |
| 1914 "gene": "CYP2C9", | 2172 "gene": "CYP2C9", |
| 1915 "chromosome": "chr10", | 2173 "chromosome": "chr10", |
| 1916 "position": 94938737, | 2174 "position": 94938737, |
| 1919 "alleles": [ | 2177 "alleles": [ |
| 1920 "*7" | 2178 "*7" |
| 1921 ], | 2179 ], |
| 1922 "phased": true, | 2180 "phased": true, |
| 1923 "wildtypeAllele": "C", | 2181 "wildtypeAllele": "C", |
| 1924 "mismatch": false | 2182 "mismatch": false, |
| 2183 "warnings": [] | |
| 1925 }, | 2184 }, |
| 1926 { | 2185 { |
| 1927 "gene": "CYP2C9", | 2186 "gene": "CYP2C9", |
| 1928 "chromosome": "chr10", | 2187 "chromosome": "chr10", |
| 1929 "position": 94938771, | 2188 "position": 94938771, |
| 1932 "alleles": [ | 2191 "alleles": [ |
| 1933 "*21" | 2192 "*21" |
| 1934 ], | 2193 ], |
| 1935 "phased": true, | 2194 "phased": true, |
| 1936 "wildtypeAllele": "C", | 2195 "wildtypeAllele": "C", |
| 1937 "mismatch": false | 2196 "mismatch": false, |
| 2197 "warnings": [] | |
| 1938 }, | 2198 }, |
| 1939 { | 2199 { |
| 1940 "gene": "CYP2C9", | 2200 "gene": "CYP2C9", |
| 1941 "chromosome": "chr10", | 2201 "chromosome": "chr10", |
| 1942 "position": 94938803, | 2202 "position": 94938803, |
| 1945 "alleles": [ | 2205 "alleles": [ |
| 1946 "*22" | 2206 "*22" |
| 1947 ], | 2207 ], |
| 1948 "phased": true, | 2208 "phased": true, |
| 1949 "wildtypeAllele": "A", | 2209 "wildtypeAllele": "A", |
| 1950 "mismatch": false | 2210 "mismatch": false, |
| 2211 "warnings": [] | |
| 1951 }, | 2212 }, |
| 1952 { | 2213 { |
| 1953 "gene": "CYP2C9", | 2214 "gene": "CYP2C9", |
| 1954 "chromosome": "chr10", | 2215 "chromosome": "chr10", |
| 1955 "position": 94938828, | 2216 "position": 94938828, |
| 1958 "alleles": [ | 2219 "alleles": [ |
| 1959 "*37" | 2220 "*37" |
| 1960 ], | 2221 ], |
| 1961 "phased": true, | 2222 "phased": true, |
| 1962 "wildtypeAllele": "A", | 2223 "wildtypeAllele": "A", |
| 1963 "mismatch": false | 2224 "mismatch": false, |
| 2225 "warnings": [] | |
| 1964 }, | 2226 }, |
| 1965 { | 2227 { |
| 1966 "gene": "CYP2C9", | 2228 "gene": "CYP2C9", |
| 1967 "chromosome": "chr10", | 2229 "chromosome": "chr10", |
| 1968 "position": 94941897, | 2230 "position": 94941897, |
| 1971 "alleles": [ | 2233 "alleles": [ |
| 1972 "*20" | 2234 "*20" |
| 1973 ], | 2235 ], |
| 1974 "phased": true, | 2236 "phased": true, |
| 1975 "wildtypeAllele": "G", | 2237 "wildtypeAllele": "G", |
| 1976 "mismatch": false | 2238 "mismatch": false, |
| 2239 "warnings": [] | |
| 1977 }, | 2240 }, |
| 1978 { | 2241 { |
| 1979 "gene": "CYP2C9", | 2242 "gene": "CYP2C9", |
| 1980 "chromosome": "chr10", | 2243 "chromosome": "chr10", |
| 1981 "position": 94941915, | 2244 "position": 94941915, |
| 1984 "alleles": [ | 2247 "alleles": [ |
| 1985 "*23" | 2248 "*23" |
| 1986 ], | 2249 ], |
| 1987 "phased": true, | 2250 "phased": true, |
| 1988 "wildtypeAllele": "G", | 2251 "wildtypeAllele": "G", |
| 1989 "mismatch": false | 2252 "mismatch": false, |
| 2253 "warnings": [] | |
| 1990 }, | 2254 }, |
| 1991 { | 2255 { |
| 1992 "gene": "CYP2C9", | 2256 "gene": "CYP2C9", |
| 1993 "chromosome": "chr10", | 2257 "chromosome": "chr10", |
| 1994 "position": 94941958, | 2258 "position": 94941958, |
| 1997 "alleles": [ | 2261 "alleles": [ |
| 1998 "*13" | 2262 "*13" |
| 1999 ], | 2263 ], |
| 2000 "phased": true, | 2264 "phased": true, |
| 2001 "wildtypeAllele": "T", | 2265 "wildtypeAllele": "T", |
| 2002 "mismatch": false | 2266 "mismatch": false, |
| 2267 "warnings": [] | |
| 2003 }, | 2268 }, |
| 2004 { | 2269 { |
| 2005 "gene": "CYP2C9", | 2270 "gene": "CYP2C9", |
| 2006 "chromosome": "chr10", | 2271 "chromosome": "chr10", |
| 2007 "position": 94941976, | 2272 "position": 94941976, |
| 2010 "alleles": [ | 2275 "alleles": [ |
| 2011 "*38" | 2276 "*38" |
| 2012 ], | 2277 ], |
| 2013 "phased": true, | 2278 "phased": true, |
| 2014 "wildtypeAllele": "G", | 2279 "wildtypeAllele": "G", |
| 2015 "mismatch": false | 2280 "mismatch": false, |
| 2281 "warnings": [] | |
| 2016 }, | 2282 }, |
| 2017 { | 2283 { |
| 2018 "gene": "CYP2C9", | 2284 "gene": "CYP2C9", |
| 2019 "chromosome": "chr10", | 2285 "chromosome": "chr10", |
| 2020 "position": 94941982, | 2286 "position": 94941982, |
| 2023 "alleles": [ | 2289 "alleles": [ |
| 2024 "*39" | 2290 "*39" |
| 2025 ], | 2291 ], |
| 2026 "phased": true, | 2292 "phased": true, |
| 2027 "wildtypeAllele": "G", | 2293 "wildtypeAllele": "G", |
| 2028 "mismatch": false | 2294 "mismatch": false, |
| 2295 "warnings": [] | |
| 2029 }, | 2296 }, |
| 2030 { | 2297 { |
| 2031 "gene": "CYP2C9", | 2298 "gene": "CYP2C9", |
| 2032 "chromosome": "chr10", | 2299 "chromosome": "chr10", |
| 2033 "position": 94942018, | 2300 "position": 94942018, |
| 2036 "alleles": [ | 2303 "alleles": [ |
| 2037 "*40" | 2304 "*40" |
| 2038 ], | 2305 ], |
| 2039 "phased": true, | 2306 "phased": true, |
| 2040 "wildtypeAllele": "T", | 2307 "wildtypeAllele": "T", |
| 2041 "mismatch": false | 2308 "mismatch": false, |
| 2309 "warnings": [] | |
| 2042 }, | 2310 }, |
| 2043 { | 2311 { |
| 2044 "gene": "CYP2C9", | 2312 "gene": "CYP2C9", |
| 2045 "chromosome": "chr10", | 2313 "chromosome": "chr10", |
| 2046 "position": 94942205, | 2314 "position": 94942205, |
| 2049 "alleles": [ | 2317 "alleles": [ |
| 2050 "*25" | 2318 "*25" |
| 2051 ], | 2319 ], |
| 2052 "phased": true, | 2320 "phased": true, |
| 2053 "wildtypeAllele": "CAATGGAAAGA", | 2321 "wildtypeAllele": "CAATGGAAAGA", |
| 2054 "mismatch": false | 2322 "mismatch": false, |
| 2323 "warnings": [] | |
| 2055 }, | 2324 }, |
| 2056 { | 2325 { |
| 2057 "gene": "CYP2C9", | 2326 "gene": "CYP2C9", |
| 2058 "chromosome": "chr10", | 2327 "chromosome": "chr10", |
| 2059 "position": 94942216, | 2328 "position": 94942216, |
| 2062 "alleles": [ | 2331 "alleles": [ |
| 2063 "*41" | 2332 "*41" |
| 2064 ], | 2333 ], |
| 2065 "phased": true, | 2334 "phased": true, |
| 2066 "wildtypeAllele": "A", | 2335 "wildtypeAllele": "A", |
| 2067 "mismatch": false | 2336 "mismatch": false, |
| 2337 "warnings": [] | |
| 2068 }, | 2338 }, |
| 2069 { | 2339 { |
| 2070 "gene": "CYP2C9", | 2340 "gene": "CYP2C9", |
| 2071 "chromosome": "chr10", | 2341 "chromosome": "chr10", |
| 2072 "position": 94942230, | 2342 "position": 94942230, |
| 2075 "alleles": [ | 2345 "alleles": [ |
| 2076 "*43" | 2346 "*43" |
| 2077 ], | 2347 ], |
| 2078 "phased": true, | 2348 "phased": true, |
| 2079 "wildtypeAllele": "C", | 2349 "wildtypeAllele": "C", |
| 2080 "mismatch": false | 2350 "mismatch": false, |
| 2351 "warnings": [] | |
| 2081 }, | 2352 }, |
| 2082 { | 2353 { |
| 2083 "gene": "CYP2C9", | 2354 "gene": "CYP2C9", |
| 2084 "chromosome": "chr10", | 2355 "chromosome": "chr10", |
| 2085 "position": 94942231, | 2356 "position": 94942231, |
| 2088 "alleles": [ | 2359 "alleles": [ |
| 2089 "*42" | 2360 "*42" |
| 2090 ], | 2361 ], |
| 2091 "phased": true, | 2362 "phased": true, |
| 2092 "wildtypeAllele": "G", | 2363 "wildtypeAllele": "G", |
| 2093 "mismatch": false | 2364 "mismatch": false, |
| 2365 "warnings": [] | |
| 2094 }, | 2366 }, |
| 2095 { | 2367 { |
| 2096 "gene": "CYP2C9", | 2368 "gene": "CYP2C9", |
| 2097 "chromosome": "chr10", | 2369 "chromosome": "chr10", |
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| 2877 "warnings": [] | |
| 2570 }, | 2878 }, |
| 2571 { | 2879 { |
| 2572 "gene": "CYP2C9", | 2880 "gene": "CYP2C9", |
| 2573 "chromosome": "chr10", | 2881 "chromosome": "chr10", |
| 2574 "position": 94981302, | 2882 "position": 94981302, |
| 2577 "alleles": [ | 2885 "alleles": [ |
| 2578 "*55" | 2886 "*55" |
| 2579 ], | 2887 ], |
| 2580 "phased": true, | 2888 "phased": true, |
| 2581 "wildtypeAllele": "C", | 2889 "wildtypeAllele": "C", |
| 2582 "mismatch": false | 2890 "mismatch": false, |
| 2891 "warnings": [] | |
| 2583 }, | 2892 }, |
| 2584 { | 2893 { |
| 2585 "gene": "CYP2C9", | 2894 "gene": "CYP2C9", |
| 2586 "chromosome": "chr10", | 2895 "chromosome": "chr10", |
| 2587 "position": 94981305, | 2896 "position": 94981305, |
| 2590 "alleles": [ | 2899 "alleles": [ |
| 2591 "*66" | 2900 "*66" |
| 2592 ], | 2901 ], |
| 2593 "phased": true, | 2902 "phased": true, |
| 2594 "wildtypeAllele": "C", | 2903 "wildtypeAllele": "C", |
| 2595 "mismatch": false | 2904 "mismatch": false, |
| 2905 "warnings": [] | |
| 2596 }, | 2906 }, |
| 2597 { | 2907 { |
| 2598 "gene": "CYP2C9", | 2908 "gene": "CYP2C9", |
| 2599 "chromosome": "chr10", | 2909 "chromosome": "chr10", |
| 2600 "position": 94981365, | 2910 "position": 94981365, |
| 2603 "alleles": [ | 2913 "alleles": [ |
| 2604 "*17" | 2914 "*17" |
| 2605 ], | 2915 ], |
| 2606 "phased": true, | 2916 "phased": true, |
| 2607 "wildtypeAllele": "C", | 2917 "wildtypeAllele": "C", |
| 2608 "mismatch": false | 2918 "mismatch": false, |
| 2919 "warnings": [] | |
| 2609 }, | 2920 }, |
| 2610 { | 2921 { |
| 2611 "gene": "CYP2C9", | 2922 "gene": "CYP2C9", |
| 2612 "chromosome": "chr10", | 2923 "chromosome": "chr10", |
| 2613 "position": 94981371, | 2924 "position": 94981371, |
| 2616 "alleles": [ | 2927 "alleles": [ |
| 2617 "*68" | 2928 "*68" |
| 2618 ], | 2929 ], |
| 2619 "phased": true, | 2930 "phased": true, |
| 2620 "wildtypeAllele": "G", | 2931 "wildtypeAllele": "G", |
| 2621 "mismatch": false | 2932 "mismatch": false, |
| 2933 "warnings": [] | |
| 2622 }, | 2934 }, |
| 2623 { | 2935 { |
| 2624 "gene": "CYP2C9", | 2936 "gene": "CYP2C9", |
| 2625 "chromosome": "chr10", | 2937 "chromosome": "chr10", |
| 2626 "position": 94986042, | 2938 "position": 94986042, |
| 2629 "alleles": [ | 2941 "alleles": [ |
| 2630 "*56" | 2942 "*56" |
| 2631 ], | 2943 ], |
| 2632 "phased": true, | 2944 "phased": true, |
| 2633 "wildtypeAllele": "A", | 2945 "wildtypeAllele": "A", |
| 2634 "mismatch": false | 2946 "mismatch": false, |
| 2947 "warnings": [] | |
| 2635 }, | 2948 }, |
| 2636 { | 2949 { |
| 2637 "gene": "CYP2C9", | 2950 "gene": "CYP2C9", |
| 2638 "chromosome": "chr10", | 2951 "chromosome": "chr10", |
| 2639 "position": 94986073, | 2952 "position": 94986073, |
| 2642 "alleles": [ | 2955 "alleles": [ |
| 2643 "*18" | 2956 "*18" |
| 2644 ], | 2957 ], |
| 2645 "phased": true, | 2958 "phased": true, |
| 2646 "wildtypeAllele": "A", | 2959 "wildtypeAllele": "A", |
| 2647 "mismatch": false | 2960 "mismatch": false, |
| 2961 "warnings": [] | |
| 2648 }, | 2962 }, |
| 2649 { | 2963 { |
| 2650 "gene": "CYP2C9", | 2964 "gene": "CYP2C9", |
| 2651 "chromosome": "chr10", | 2965 "chromosome": "chr10", |
| 2652 "position": 94988852, | 2966 "position": 94988852, |
| 2655 "alleles": [ | 2969 "alleles": [ |
| 2656 "*67" | 2970 "*67" |
| 2657 ], | 2971 ], |
| 2658 "phased": true, | 2972 "phased": true, |
| 2659 "wildtypeAllele": "C", | 2973 "wildtypeAllele": "C", |
| 2660 "mismatch": false | 2974 "mismatch": false, |
| 2975 "warnings": [] | |
| 2661 }, | 2976 }, |
| 2662 { | 2977 { |
| 2663 "gene": "CYP2C9", | 2978 "gene": "CYP2C9", |
| 2664 "chromosome": "chr10", | 2979 "chromosome": "chr10", |
| 2665 "position": 94988855, | 2980 "position": 94988855, |
| 2668 "alleles": [ | 2983 "alleles": [ |
| 2669 "*59" | 2984 "*59" |
| 2670 ], | 2985 ], |
| 2671 "phased": true, | 2986 "phased": true, |
| 2672 "wildtypeAllele": "A", | 2987 "wildtypeAllele": "A", |
| 2673 "mismatch": false | 2988 "mismatch": false, |
| 2989 "warnings": [] | |
| 2674 }, | 2990 }, |
| 2675 { | 2991 { |
| 2676 "gene": "CYP2C9", | 2992 "gene": "CYP2C9", |
| 2677 "chromosome": "chr10", | 2993 "chromosome": "chr10", |
| 2678 "position": 94988880, | 2994 "position": 94988880, |
| 2681 "alleles": [ | 2997 "alleles": [ |
| 2682 "*70" | 2998 "*70" |
| 2683 ], | 2999 ], |
| 2684 "phased": true, | 3000 "phased": true, |
| 2685 "wildtypeAllele": "G", | 3001 "wildtypeAllele": "G", |
| 2686 "mismatch": false | 3002 "mismatch": false, |
| 3003 "warnings": [] | |
| 2687 }, | 3004 }, |
| 2688 { | 3005 { |
| 2689 "gene": "CYP2C9", | 3006 "gene": "CYP2C9", |
| 2690 "chromosome": "chr10", | 3007 "chromosome": "chr10", |
| 2691 "position": 94988917, | 3008 "position": 94988917, |
| 2694 "alleles": [ | 3011 "alleles": [ |
| 2695 "*19" | 3012 "*19" |
| 2696 ], | 3013 ], |
| 2697 "phased": true, | 3014 "phased": true, |
| 2698 "wildtypeAllele": "G", | 3015 "wildtypeAllele": "G", |
| 2699 "mismatch": false | 3016 "mismatch": false, |
| 3017 "warnings": [] | |
| 2700 }, | 3018 }, |
| 2701 { | 3019 { |
| 2702 "gene": "CYP2C9", | 3020 "gene": "CYP2C9", |
| 2703 "chromosome": "chr10", | 3021 "chromosome": "chr10", |
| 2704 "position": 94988925, | 3022 "position": 94988925, |
| 2707 "alleles": [ | 3025 "alleles": [ |
| 2708 "*61" | 3026 "*61" |
| 2709 ], | 3027 ], |
| 2710 "phased": true, | 3028 "phased": true, |
| 2711 "wildtypeAllele": "A", | 3029 "wildtypeAllele": "A", |
| 2712 "mismatch": false | 3030 "mismatch": false, |
| 3031 "warnings": [] | |
| 2713 }, | 3032 }, |
| 2714 { | 3033 { |
| 2715 "gene": "CYP2C9", | 3034 "gene": "CYP2C9", |
| 2716 "chromosome": "chr10", | 3035 "chromosome": "chr10", |
| 2717 "position": 94988955, | 3036 "position": 94988955, |
| 2720 "alleles": [ | 3039 "alleles": [ |
| 2721 "*60" | 3040 "*60" |
| 2722 ], | 3041 ], |
| 2723 "phased": true, | 3042 "phased": true, |
| 2724 "wildtypeAllele": "T", | 3043 "wildtypeAllele": "T", |
| 2725 "mismatch": false | 3044 "mismatch": false, |
| 3045 "warnings": [] | |
| 2726 }, | 3046 }, |
| 2727 { | 3047 { |
| 2728 "gene": "CYP2C9", | 3048 "gene": "CYP2C9", |
| 2729 "chromosome": "chr10", | 3049 "chromosome": "chr10", |
| 2730 "position": 94988984, | 3050 "position": 94988984, |
| 2733 "alleles": [ | 3053 "alleles": [ |
| 2734 "*30" | 3054 "*30" |
| 2735 ], | 3055 ], |
| 2736 "phased": true, | 3056 "phased": true, |
| 2737 "wildtypeAllele": "G", | 3057 "wildtypeAllele": "G", |
| 2738 "mismatch": false | 3058 "mismatch": false, |
| 3059 "warnings": [] | |
| 2739 }, | 3060 }, |
| 2740 { | 3061 { |
| 2741 "gene": "CYP2C9", | 3062 "gene": "CYP2C9", |
| 2742 "chromosome": "chr10", | 3063 "chromosome": "chr10", |
| 2743 "position": 94989020, | 3064 "position": 94989020, |
| 2747 "*12", | 3068 "*12", |
| 2748 "*71" | 3069 "*71" |
| 2749 ], | 3070 ], |
| 2750 "phased": true, | 3071 "phased": true, |
| 2751 "wildtypeAllele": "C", | 3072 "wildtypeAllele": "C", |
| 2752 "mismatch": false | 3073 "mismatch": false, |
| 3074 "warnings": [] | |
| 2753 }, | 3075 }, |
| 2754 { | 3076 { |
| 2755 "gene": "CYP2C9", | 3077 "gene": "CYP2C9", |
| 2756 "chromosome": "chr10", | 3078 "chromosome": "chr10", |
| 2757 "position": 94989023, | 3079 "position": 94989023, |
| 2760 "alleles": [ | 3082 "alleles": [ |
| 2761 "*32" | 3083 "*32" |
| 2762 ], | 3084 ], |
| 2763 "phased": true, | 3085 "phased": true, |
| 2764 "wildtypeAllele": "G", | 3086 "wildtypeAllele": "G", |
| 2765 "mismatch": false | 3087 "mismatch": false, |
| 3088 "warnings": [] | |
| 3089 }, | |
| 3090 { | |
| 3091 "gene": "CYP2C9", | |
| 3092 "chromosome": "chr10", | |
| 3093 "position": 94938719, | |
| 3094 "dbSnpId": null, | |
| 3095 "call": null, | |
| 3096 "alleles": [ | |
| 3097 "*80" | |
| 3098 ], | |
| 3099 "phased": false, | |
| 3100 "wildtypeAllele": "T", | |
| 3101 "mismatch": false, | |
| 3102 "warnings": [] | |
| 3103 }, | |
| 3104 { | |
| 3105 "gene": "CYP2C9", | |
| 3106 "chromosome": "chr10", | |
| 3107 "position": 94938788, | |
| 3108 "dbSnpId": null, | |
| 3109 "call": null, | |
| 3110 "alleles": [ | |
| 3111 "*83" | |
| 3112 ], | |
| 3113 "phased": false, | |
| 3114 "wildtypeAllele": "C", | |
| 3115 "mismatch": false, | |
| 3116 "warnings": [] | |
| 3117 }, | |
| 3118 { | |
| 3119 "gene": "CYP2C9", | |
| 3120 "chromosome": "chr10", | |
| 3121 "position": 94938800, | |
| 3122 "dbSnpId": "rs1364419386", | |
| 3123 "call": null, | |
| 3124 "alleles": [ | |
| 3125 "*76" | |
| 3126 ], | |
| 3127 "phased": false, | |
| 3128 "wildtypeAllele": "G", | |
| 3129 "mismatch": false, | |
| 3130 "warnings": [] | |
| 3131 }, | |
| 3132 { | |
| 3133 "gene": "CYP2C9", | |
| 3134 "chromosome": "chr10", | |
| 3135 "position": 94941975, | |
| 3136 "dbSnpId": null, | |
| 3137 "call": null, | |
| 3138 "alleles": [ | |
| 3139 "*77" | |
| 3140 ], | |
| 3141 "phased": false, | |
| 3142 "wildtypeAllele": "G", | |
| 3143 "mismatch": false, | |
| 3144 "warnings": [] | |
| 3145 }, | |
| 3146 { | |
| 3147 "gene": "CYP2C9", | |
| 3148 "chromosome": "chr10", | |
| 3149 "position": 94942243, | |
| 3150 "dbSnpId": "rs1375956433", | |
| 3151 "call": null, | |
| 3152 "alleles": [ | |
| 3153 "*78" | |
| 3154 ], | |
| 3155 "phased": false, | |
| 3156 "wildtypeAllele": "T", | |
| 3157 "mismatch": false, | |
| 3158 "warnings": [] | |
| 2766 }, | 3159 }, |
| 2767 { | 3160 { |
| 2768 "gene": "CYP2C9", | 3161 "gene": "CYP2C9", |
| 2769 "chromosome": "chr10", | 3162 "chromosome": "chr10", |
| 2770 "position": 94942306, | 3163 "position": 94942306, |
| 2773 "alleles": [ | 3166 "alleles": [ |
| 2774 "*72" | 3167 "*72" |
| 2775 ], | 3168 ], |
| 2776 "phased": false, | 3169 "phased": false, |
| 2777 "wildtypeAllele": "C", | 3170 "wildtypeAllele": "C", |
| 2778 "mismatch": false | 3171 "mismatch": false, |
| 3172 "warnings": [] | |
| 2779 }, | 3173 }, |
| 2780 { | 3174 { |
| 2781 "gene": "CYP2C9", | 3175 "gene": "CYP2C9", |
| 2782 "chromosome": "chr10", | 3176 "chromosome": "chr10", |
| 2783 "position": 94942308, | 3177 "position": 94942308, |
| 2786 "alleles": [ | 3180 "alleles": [ |
| 2787 "*73" | 3181 "*73" |
| 2788 ], | 3182 ], |
| 2789 "phased": false, | 3183 "phased": false, |
| 2790 "wildtypeAllele": "C", | 3184 "wildtypeAllele": "C", |
| 2791 "mismatch": false | 3185 "mismatch": false, |
| 3186 "warnings": [] | |
| 2792 }, | 3187 }, |
| 2793 { | 3188 { |
| 2794 "gene": "CYP2C9", | 3189 "gene": "CYP2C9", |
| 2795 "chromosome": "chr10", | 3190 "chromosome": "chr10", |
| 2796 "position": 94947439, | 3191 "position": 94947439, |
| 2799 "alleles": [ | 3194 "alleles": [ |
| 2800 "*74" | 3195 "*74" |
| 2801 ], | 3196 ], |
| 2802 "phased": false, | 3197 "phased": false, |
| 2803 "wildtypeAllele": "G", | 3198 "wildtypeAllele": "G", |
| 2804 "mismatch": false | 3199 "mismatch": false, |
| 3200 "warnings": [] | |
| 3201 }, | |
| 3202 { | |
| 3203 "gene": "CYP2C9", | |
| 3204 "chromosome": "chr10", | |
| 3205 "position": 94949145, | |
| 3206 "dbSnpId": "rs772782449", | |
| 3207 "call": null, | |
| 3208 "alleles": [ | |
| 3209 "*82" | |
| 3210 ], | |
| 3211 "phased": false, | |
| 3212 "wildtypeAllele": "C", | |
| 3213 "mismatch": false, | |
| 3214 "warnings": [] | |
| 3215 }, | |
| 3216 { | |
| 3217 "gene": "CYP2C9", | |
| 3218 "chromosome": "chr10", | |
| 3219 "position": 94949161, | |
| 3220 "dbSnpId": null, | |
| 3221 "call": null, | |
| 3222 "alleles": [ | |
| 3223 "*85" | |
| 3224 ], | |
| 3225 "phased": false, | |
| 3226 "wildtypeAllele": "AT", | |
| 3227 "mismatch": false, | |
| 3228 "warnings": [] | |
| 3229 }, | |
| 3230 { | |
| 3231 "gene": "CYP2C9", | |
| 3232 "chromosome": "chr10", | |
| 3233 "position": 94972183, | |
| 3234 "dbSnpId": null, | |
| 3235 "call": null, | |
| 3236 "alleles": [ | |
| 3237 "*81" | |
| 3238 ], | |
| 3239 "phased": false, | |
| 3240 "wildtypeAllele": "A", | |
| 3241 "mismatch": false, | |
| 3242 "warnings": [] | |
| 3243 }, | |
| 3244 { | |
| 3245 "gene": "CYP2C9", | |
| 3246 "chromosome": "chr10", | |
| 3247 "position": 94981258, | |
| 3248 "dbSnpId": "rs1297714792", | |
| 3249 "call": null, | |
| 3250 "alleles": [ | |
| 3251 "*79" | |
| 3252 ], | |
| 3253 "phased": false, | |
| 3254 "wildtypeAllele": "C", | |
| 3255 "mismatch": false, | |
| 3256 "warnings": [] | |
| 2805 }, | 3257 }, |
| 2806 { | 3258 { |
| 2807 "gene": "CYP2C9", | 3259 "gene": "CYP2C9", |
| 2808 "chromosome": "chr10", | 3260 "chromosome": "chr10", |
| 2809 "position": 94986136, | 3261 "position": 94986136, |
| 2812 "alleles": [ | 3264 "alleles": [ |
| 2813 "*75" | 3265 "*75" |
| 2814 ], | 3266 ], |
| 2815 "phased": false, | 3267 "phased": false, |
| 2816 "wildtypeAllele": "A", | 3268 "wildtypeAllele": "A", |
| 2817 "mismatch": false | 3269 "mismatch": false, |
| 3270 "warnings": [] | |
| 3271 }, | |
| 3272 { | |
| 3273 "gene": "CYP2C9", | |
| 3274 "chromosome": "chr10", | |
| 3275 "position": 94986174, | |
| 3276 "dbSnpId": "rs1441296358", | |
| 3277 "call": null, | |
| 3278 "alleles": [ | |
| 3279 "*84" | |
| 3280 ], | |
| 3281 "phased": false, | |
| 3282 "wildtypeAllele": "G", | |
| 3283 "mismatch": false, | |
| 3284 "warnings": [] | |
| 2818 } | 3285 } |
| 2819 ], | 3286 ], |
| 2820 "variantsOfInterest": [ | 3287 "variantsOfInterest": [ |
| 2821 { | 3288 { |
| 2822 "gene": "CYP2C9", | 3289 "gene": "CYP2C9", |
| 2825 "dbSnpId": "rs12777823", | 3292 "dbSnpId": "rs12777823", |
| 2826 "call": "G|G", | 3293 "call": "G|G", |
| 2827 "alleles": [], | 3294 "alleles": [], |
| 2828 "phased": true, | 3295 "phased": true, |
| 2829 "wildtypeAllele": null, | 3296 "wildtypeAllele": null, |
| 2830 "mismatch": false | 3297 "mismatch": false, |
| 3298 "warnings": [] | |
| 2831 } | 3299 } |
| 2832 ], | 3300 ], |
| 2833 "highlightedVariants": [] | 3301 "highlightedVariants": [] |
| 2834 }, | 3302 }, |
| 2835 { | 3303 { |
| 2836 "geneSymbol": "CYP2D6", | 3304 "geneSymbol": "CYP2D6", |
| 2837 "chr": null, | 3305 "chr": null, |
| 2838 "phased": false, | 3306 "phased": false, |
| 2839 "callSource": "OUTSIDE", | 3307 "callSource": "OUTSIDE", |
| 2840 "uncalledHaplotypes": [], | 3308 "uncalledHaplotypes": [], |
| 2841 "messages": [ | 3309 "messages": [], |
| 2842 { | |
| 2843 "rule_name": "CYP2D6 warning", | |
| 2844 "version": "1", | |
| 2845 "matches": { | |
| 2846 "gene": "CYP2D6", | |
| 2847 "hapsCalled": [], | |
| 2848 "hapsMissing": [], | |
| 2849 "variantsMissing": [], | |
| 2850 "variant": "", | |
| 2851 "dips": [], | |
| 2852 "drugs": [] | |
| 2853 }, | |
| 2854 "exception_type": "note", | |
| 2855 "message": "CYP2D6 genotypes are called by a separate algorithm from other genes in the PharmCAT report. Please refer to \u003ca href\u003d\"https://github.com/PharmGKB/PharmCAT/wiki/Determining-Alleles\"\u003ethe PharmCAT wiki\u003c/a\u003e for more information." | |
| 2856 } | |
| 2857 ], | |
| 2858 "relatedDrugs": [ | 3310 "relatedDrugs": [ |
| 2859 { | 3311 { |
| 2860 "name": "amitriptyline", | 3312 "name": "amitriptyline", |
| 2861 "guidelineId": "RxNorm:704" | 3313 "guidelineId": "RxNorm:704" |
| 2862 }, | 3314 }, |
| 2919 { | 3371 { |
| 2920 "name": "tropisetron", | 3372 "name": "tropisetron", |
| 2921 "guidelineId": "RxNorm:27392" | 3373 "guidelineId": "RxNorm:27392" |
| 2922 } | 3374 } |
| 2923 ], | 3375 ], |
| 2924 "matcherDiplotypes": [ | 3376 "matcherDiplotypes": [], |
| 3377 "diplotypes": [ | |
| 2925 { | 3378 { |
| 2926 "allele1": { | 3379 "allele1": { |
| 2927 "gene": "CYP2D6", | 3380 "gene": "CYP2D6", |
| 2928 "name": "*1", | 3381 "name": "*1", |
| 2929 "function": "Normal function", | 3382 "function": "Normal function", |
| 2934 "name": "*3", | 3387 "name": "*3", |
| 2935 "function": "No function", | 3388 "function": "No function", |
| 2936 "reference": false | 3389 "reference": false |
| 2937 }, | 3390 }, |
| 2938 "gene": "CYP2D6", | 3391 "gene": "CYP2D6", |
| 2939 "phenotype": "Intermediate Metabolizer", | 3392 "phenotypes": [ |
| 3393 "Intermediate Metabolizer" | |
| 3394 ], | |
| 2940 "variant": null, | 3395 "variant": null, |
| 2941 "lookupKey": "1", | 3396 "lookupKey": [ |
| 2942 "label": "*1/*3" | 3397 "1" |
| 2943 } | 3398 ], |
| 2944 ], | |
| 2945 "diplotypes": [ | |
| 2946 { | |
| 2947 "allele1": { | |
| 2948 "gene": "CYP2D6", | |
| 2949 "name": "*1", | |
| 2950 "function": "Normal function", | |
| 2951 "reference": true | |
| 2952 }, | |
| 2953 "allele2": { | |
| 2954 "gene": "CYP2D6", | |
| 2955 "name": "*3", | |
| 2956 "function": "No function", | |
| 2957 "reference": false | |
| 2958 }, | |
| 2959 "gene": "CYP2D6", | |
| 2960 "phenotype": "Intermediate Metabolizer", | |
| 2961 "variant": null, | |
| 2962 "lookupKey": "1", | |
| 2963 "label": "*1/*3" | 3399 "label": "*1/*3" |
| 2964 } | 3400 } |
| 2965 ], | 3401 ], |
| 2966 "variants": [], | 3402 "variants": [], |
| 2967 "variantsOfInterest": [], | 3403 "variantsOfInterest": [], |
| 3009 "name": "*1", | 3445 "name": "*1", |
| 3010 "function": "Normal function", | 3446 "function": "Normal function", |
| 3011 "reference": true | 3447 "reference": true |
| 3012 }, | 3448 }, |
| 3013 "gene": "CYP3A5", | 3449 "gene": "CYP3A5", |
| 3014 "phenotype": "Normal Metabolizer", | 3450 "phenotypes": [ |
| 3451 "Normal Metabolizer" | |
| 3452 ], | |
| 3015 "variant": null, | 3453 "variant": null, |
| 3016 "lookupKey": "Normal Metabolizer", | 3454 "lookupKey": [ |
| 3455 "Normal Metabolizer" | |
| 3456 ], | |
| 3017 "label": "*1/*1" | 3457 "label": "*1/*1" |
| 3018 } | 3458 } |
| 3019 ], | 3459 ], |
| 3020 "diplotypes": [ | 3460 "diplotypes": [ |
| 3021 { | 3461 { |
| 3030 "name": "*1", | 3470 "name": "*1", |
| 3031 "function": "Normal function", | 3471 "function": "Normal function", |
| 3032 "reference": true | 3472 "reference": true |
| 3033 }, | 3473 }, |
| 3034 "gene": "CYP3A5", | 3474 "gene": "CYP3A5", |
| 3035 "phenotype": "Normal Metabolizer", | 3475 "phenotypes": [ |
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| 3308 "gene": "DPYD", | 3720 "gene": "DPYD", |
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| 3722 "Normal Metabolizer" | |
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| 3316 { | 3732 { |
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| 3329 { | 3746 { |
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| 3342 { | 3760 { |
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| 3355 { | 3774 { |
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| 3365 "wildtypeAllele": "C", | 3784 "wildtypeAllele": "C", |
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| 3368 { | 3788 { |
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| 3381 { | 3802 { |
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| 3394 { | 3816 { |
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| 3407 { | 3830 { |
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| 3420 { | 3844 { |
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| 3430 "wildtypeAllele": "T", | 3854 "wildtypeAllele": "T", |
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| 3433 { | 3858 { |
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| 3440 "c.2872A\u003eG" | 3865 "c.2872A\u003eG" |
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| 3443 "wildtypeAllele": "T", | 3868 "wildtypeAllele": "T", |
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| 3446 { | 3872 { |
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| 3453 "c.2846A\u003eT" | 3879 "c.2846A\u003eT" |
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| 3472 { | 3900 { |
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| 3485 { | 3914 { |
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| 3492 "c.2639G\u003eT" | 3921 "c.2639G\u003eT" |
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| 3495 "wildtypeAllele": "C", | 3924 "wildtypeAllele": "C", |
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| 3498 { | 3928 { |
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| 3505 "c.2623A\u003eC" | 3935 "c.2623A\u003eC" |
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| 3508 "wildtypeAllele": "T", | 3938 "wildtypeAllele": "T", |
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| 3511 { | 3942 { |
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| 3518 "c.2582A\u003eG" | 3949 "c.2582A\u003eG" |
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| 3521 "wildtypeAllele": "T", | 3952 "wildtypeAllele": "T", |
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| 3524 { | 3956 { |
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| 3531 "c.2482G\u003eA" | 3963 "c.2482G\u003eA" |
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| 3534 "wildtypeAllele": "C", | 3966 "wildtypeAllele": "C", |
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| 3537 { | 3970 { |
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| 3544 "c.2336C\u003eA" | 3977 "c.2336C\u003eA" |
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| 3547 "wildtypeAllele": "G", | 3980 "wildtypeAllele": "G", |
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| 3550 { | 3984 { |
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| 3570 "c.2279C\u003eT" | 4005 "c.2279C\u003eT" |
| 3571 ], | 4006 ], |
| 3572 "phased": true, | 4007 "phased": true, |
| 3573 "wildtypeAllele": "G", | 4008 "wildtypeAllele": "G", |
| 3574 "mismatch": false | 4009 "mismatch": false, |
| 4010 "warnings": [] | |
| 3575 }, | 4011 }, |
| 3576 { | 4012 { |
| 3577 "gene": "DPYD", | 4013 "gene": "DPYD", |
| 3578 "chromosome": "chr1", | 4014 "chromosome": "chr1", |
| 3579 "position": 97305363, | 4015 "position": 97305363, |
| 3582 "alleles": [ | 4018 "alleles": [ |
| 3583 "c.2195T\u003eG" | 4019 "c.2195T\u003eG" |
| 3584 ], | 4020 ], |
| 3585 "phased": true, | 4021 "phased": true, |
| 3586 "wildtypeAllele": "A", | 4022 "wildtypeAllele": "A", |
| 3587 "mismatch": false | 4023 "mismatch": false, |
| 4024 "warnings": [] | |
| 3588 }, | 4025 }, |
| 3589 { | 4026 { |
| 3590 "gene": "DPYD", | 4027 "gene": "DPYD", |
| 3591 "chromosome": "chr1", | 4028 "chromosome": "chr1", |
| 3592 "position": 97305364, | 4029 "position": 97305364, |
| 3595 "alleles": [ | 4032 "alleles": [ |
| 3596 "c.2194G\u003eA (*6)" | 4033 "c.2194G\u003eA (*6)" |
| 3597 ], | 4034 ], |
| 3598 "phased": true, | 4035 "phased": true, |
| 3599 "wildtypeAllele": "C", | 4036 "wildtypeAllele": "C", |
| 3600 "mismatch": false | 4037 "mismatch": false, |
| 4038 "warnings": [] | |
| 3601 }, | 4039 }, |
| 3602 { | 4040 { |
| 3603 "gene": "DPYD", | 4041 "gene": "DPYD", |
| 3604 "chromosome": "chr1", | 4042 "chromosome": "chr1", |
| 3605 "position": 97305372, | 4043 "position": 97305372, |
| 3608 "alleles": [ | 4046 "alleles": [ |
| 3609 "c.2186C\u003eT" | 4047 "c.2186C\u003eT" |
| 3610 ], | 4048 ], |
| 3611 "phased": true, | 4049 "phased": true, |
| 3612 "wildtypeAllele": "G", | 4050 "wildtypeAllele": "G", |
| 3613 "mismatch": false | 4051 "mismatch": false, |
| 4052 "warnings": [] | |
| 3614 }, | 4053 }, |
| 3615 { | 4054 { |
| 3616 "gene": "DPYD", | 4055 "gene": "DPYD", |
| 3617 "chromosome": "chr1", | 4056 "chromosome": "chr1", |
| 3618 "position": 97306195, | 4057 "position": 97306195, |
| 3621 "alleles": [ | 4060 "alleles": [ |
| 3622 "c.2161G\u003eA" | 4061 "c.2161G\u003eA" |
| 3623 ], | 4062 ], |
| 3624 "phased": true, | 4063 "phased": true, |
| 3625 "wildtypeAllele": "C", | 4064 "wildtypeAllele": "C", |
| 3626 "mismatch": false | 4065 "mismatch": false, |
| 4066 "warnings": [] | |
| 3627 }, | 4067 }, |
| 3628 { | 4068 { |
| 3629 "gene": "DPYD", | 4069 "gene": "DPYD", |
| 3630 "chromosome": "chr1", | 4070 "chromosome": "chr1", |
| 3631 "position": 97373598, | 4071 "position": 97373598, |
| 3634 "alleles": [ | 4074 "alleles": [ |
| 3635 "c.2021G\u003eA" | 4075 "c.2021G\u003eA" |
| 3636 ], | 4076 ], |
| 3637 "phased": true, | 4077 "phased": true, |
| 3638 "wildtypeAllele": "C", | 4078 "wildtypeAllele": "C", |
| 3639 "mismatch": false | 4079 "mismatch": false, |
| 4080 "warnings": [] | |
| 3640 }, | 4081 }, |
| 3641 { | 4082 { |
| 3642 "gene": "DPYD", | 4083 "gene": "DPYD", |
| 3643 "chromosome": "chr1", | 4084 "chromosome": "chr1", |
| 3644 "position": 97373629, | 4085 "position": 97373629, |
| 3647 "alleles": [ | 4088 "alleles": [ |
| 3648 "c.1990G\u003eT" | 4089 "c.1990G\u003eT" |
| 3649 ], | 4090 ], |
| 3650 "phased": true, | 4091 "phased": true, |
| 3651 "wildtypeAllele": "C", | 4092 "wildtypeAllele": "C", |
| 3652 "mismatch": false | 4093 "mismatch": false, |
| 4094 "warnings": [] | |
| 3653 }, | 4095 }, |
| 3654 { | 4096 { |
| 3655 "gene": "DPYD", | 4097 "gene": "DPYD", |
| 3656 "chromosome": "chr1", | 4098 "chromosome": "chr1", |
| 3657 "position": 97382461, | 4099 "position": 97382461, |
| 3660 "alleles": [ | 4102 "alleles": [ |
| 3661 "c.1906A\u003eC" | 4103 "c.1906A\u003eC" |
| 3662 ], | 4104 ], |
| 3663 "phased": true, | 4105 "phased": true, |
| 3664 "wildtypeAllele": "T", | 4106 "wildtypeAllele": "T", |
| 3665 "mismatch": false | 4107 "mismatch": false, |
| 4108 "warnings": [] | |
| 3666 }, | 4109 }, |
| 3667 { | 4110 { |
| 3668 "gene": "DPYD", | 4111 "gene": "DPYD", |
| 3669 "chromosome": "chr1", | 4112 "chromosome": "chr1", |
| 3670 "position": 97450058, | 4113 "position": 97450058, |
| 3673 "alleles": [ | 4116 "alleles": [ |
| 3674 "c.1905+1G\u003eA (*2A)" | 4117 "c.1905+1G\u003eA (*2A)" |
| 3675 ], | 4118 ], |
| 3676 "phased": true, | 4119 "phased": true, |
| 3677 "wildtypeAllele": "C", | 4120 "wildtypeAllele": "C", |
| 3678 "mismatch": false | 4121 "mismatch": false, |
| 4122 "warnings": [] | |
| 3679 }, | 4123 }, |
| 3680 { | 4124 { |
| 3681 "gene": "DPYD", | 4125 "gene": "DPYD", |
| 3682 "chromosome": "chr1", | 4126 "chromosome": "chr1", |
| 3683 "position": 97450059, | 4127 "position": 97450059, |
| 3686 "alleles": [ | 4130 "alleles": [ |
| 3687 "c.1905C\u003eG" | 4131 "c.1905C\u003eG" |
| 3688 ], | 4132 ], |
| 3689 "phased": true, | 4133 "phased": true, |
| 3690 "wildtypeAllele": "G", | 4134 "wildtypeAllele": "G", |
| 3691 "mismatch": false | 4135 "mismatch": false, |
| 4136 "warnings": [] | |
| 3692 }, | 4137 }, |
| 3693 { | 4138 { |
| 3694 "gene": "DPYD", | 4139 "gene": "DPYD", |
| 3695 "chromosome": "chr1", | 4140 "chromosome": "chr1", |
| 3696 "position": 97450065, | 4141 "position": 97450065, |
| 3699 "alleles": [ | 4144 "alleles": [ |
| 3700 "c.1898delC (*3)" | 4145 "c.1898delC (*3)" |
| 3701 ], | 4146 ], |
| 3702 "phased": true, | 4147 "phased": true, |
| 3703 "wildtypeAllele": "TG", | 4148 "wildtypeAllele": "TG", |
| 3704 "mismatch": false | 4149 "mismatch": false, |
| 4150 "warnings": [] | |
| 3705 }, | 4151 }, |
| 3706 { | 4152 { |
| 3707 "gene": "DPYD", | 4153 "gene": "DPYD", |
| 3708 "chromosome": "chr1", | 4154 "chromosome": "chr1", |
| 3709 "position": 97450068, | 4155 "position": 97450068, |
| 3712 "alleles": [ | 4158 "alleles": [ |
| 3713 "c.1896T\u003eC" | 4159 "c.1896T\u003eC" |
| 3714 ], | 4160 ], |
| 3715 "phased": true, | 4161 "phased": true, |
| 3716 "wildtypeAllele": "A", | 4162 "wildtypeAllele": "A", |
| 3717 "mismatch": false | 4163 "mismatch": false, |
| 4164 "warnings": [] | |
| 3718 }, | 4165 }, |
| 3719 { | 4166 { |
| 3720 "gene": "DPYD", | 4167 "gene": "DPYD", |
| 3721 "chromosome": "chr1", | 4168 "chromosome": "chr1", |
| 3722 "position": 97450168, | 4169 "position": 97450168, |
| 3725 "alleles": [ | 4172 "alleles": [ |
| 3726 "c.1796T\u003eC" | 4173 "c.1796T\u003eC" |
| 3727 ], | 4174 ], |
| 3728 "phased": true, | 4175 "phased": true, |
| 3729 "wildtypeAllele": "A", | 4176 "wildtypeAllele": "A", |
| 3730 "mismatch": false | 4177 "mismatch": false, |
| 4178 "warnings": [] | |
| 3731 }, | 4179 }, |
| 3732 { | 4180 { |
| 3733 "gene": "DPYD", | 4181 "gene": "DPYD", |
| 3734 "chromosome": "chr1", | 4182 "chromosome": "chr1", |
| 3735 "position": 97450187, | 4183 "position": 97450187, |
| 3738 "alleles": [ | 4186 "alleles": [ |
| 3739 "c.1777G\u003eA" | 4187 "c.1777G\u003eA" |
| 3740 ], | 4188 ], |
| 3741 "phased": true, | 4189 "phased": true, |
| 3742 "wildtypeAllele": "C", | 4190 "wildtypeAllele": "C", |
| 3743 "mismatch": false | 4191 "mismatch": false, |
| 4192 "warnings": [] | |
| 3744 }, | 4193 }, |
| 3745 { | 4194 { |
| 3746 "gene": "DPYD", | 4195 "gene": "DPYD", |
| 3747 "chromosome": "chr1", | 4196 "chromosome": "chr1", |
| 3748 "position": 97450189, | 4197 "position": 97450189, |
| 3751 "alleles": [ | 4200 "alleles": [ |
| 3752 "c.1775G\u003eA" | 4201 "c.1775G\u003eA" |
| 3753 ], | 4202 ], |
| 3754 "phased": true, | 4203 "phased": true, |
| 3755 "wildtypeAllele": "C", | 4204 "wildtypeAllele": "C", |
| 3756 "mismatch": false | 4205 "mismatch": false, |
| 4206 "warnings": [] | |
| 3757 }, | 4207 }, |
| 3758 { | 4208 { |
| 3759 "gene": "DPYD", | 4209 "gene": "DPYD", |
| 3760 "chromosome": "chr1", | 4210 "chromosome": "chr1", |
| 3761 "position": 97450190, | 4211 "position": 97450190, |
| 3764 "alleles": [ | 4214 "alleles": [ |
| 3765 "c.1774C\u003eT" | 4215 "c.1774C\u003eT" |
| 3766 ], | 4216 ], |
| 3767 "phased": true, | 4217 "phased": true, |
| 3768 "wildtypeAllele": "G", | 4218 "wildtypeAllele": "G", |
| 3769 "mismatch": false | 4219 "mismatch": false, |
| 4220 "warnings": [] | |
| 3770 }, | 4221 }, |
| 3771 { | 4222 { |
| 3772 "gene": "DPYD", | 4223 "gene": "DPYD", |
| 3773 "chromosome": "chr1", | 4224 "chromosome": "chr1", |
| 3774 "position": 97515784, | 4225 "position": 97515784, |
| 3777 "alleles": [ | 4228 "alleles": [ |
| 3778 "c.1682G\u003eT" | 4229 "c.1682G\u003eT" |
| 3779 ], | 4230 ], |
| 3780 "phased": true, | 4231 "phased": true, |
| 3781 "wildtypeAllele": "C", | 4232 "wildtypeAllele": "C", |
| 3782 "mismatch": false | 4233 "mismatch": false, |
| 4234 "warnings": [] | |
| 3783 }, | 4235 }, |
| 3784 { | 4236 { |
| 3785 "gene": "DPYD", | 4237 "gene": "DPYD", |
| 3786 "chromosome": "chr1", | 4238 "chromosome": "chr1", |
| 3787 "position": 97515787, | 4239 "position": 97515787, |
| 3790 "alleles": [ | 4242 "alleles": [ |
| 3791 "c.1679T\u003eG (*13)" | 4243 "c.1679T\u003eG (*13)" |
| 3792 ], | 4244 ], |
| 3793 "phased": true, | 4245 "phased": true, |
| 3794 "wildtypeAllele": "A", | 4246 "wildtypeAllele": "A", |
| 3795 "mismatch": false | 4247 "mismatch": false, |
| 4248 "warnings": [] | |
| 3796 }, | 4249 }, |
| 3797 { | 4250 { |
| 3798 "gene": "DPYD", | 4251 "gene": "DPYD", |
| 3799 "chromosome": "chr1", | 4252 "chromosome": "chr1", |
| 3800 "position": 97515839, | 4253 "position": 97515839, |
| 3803 "alleles": [ | 4256 "alleles": [ |
| 3804 "c.1627A\u003eG (*5)" | 4257 "c.1627A\u003eG (*5)" |
| 3805 ], | 4258 ], |
| 3806 "phased": true, | 4259 "phased": true, |
| 3807 "wildtypeAllele": "T", | 4260 "wildtypeAllele": "T", |
| 3808 "mismatch": false | 4261 "mismatch": false, |
| 4262 "warnings": [] | |
| 3809 }, | 4263 }, |
| 3810 { | 4264 { |
| 3811 "gene": "DPYD", | 4265 "gene": "DPYD", |
| 3812 "chromosome": "chr1", | 4266 "chromosome": "chr1", |
| 3813 "position": 97515851, | 4267 "position": 97515851, |
| 3816 "alleles": [ | 4270 "alleles": [ |
| 3817 "c.1615G\u003eA" | 4271 "c.1615G\u003eA" |
| 3818 ], | 4272 ], |
| 3819 "phased": true, | 4273 "phased": true, |
| 3820 "wildtypeAllele": "C", | 4274 "wildtypeAllele": "C", |
| 3821 "mismatch": false | 4275 "mismatch": false, |
| 4276 "warnings": [] | |
| 3822 }, | 4277 }, |
| 3823 { | 4278 { |
| 3824 "gene": "DPYD", | 4279 "gene": "DPYD", |
| 3825 "chromosome": "chr1", | 4280 "chromosome": "chr1", |
| 3826 "position": 97515865, | 4281 "position": 97515865, |
| 3829 "alleles": [ | 4284 "alleles": [ |
| 3830 "c.1601G\u003eA (*4)" | 4285 "c.1601G\u003eA (*4)" |
| 3831 ], | 4286 ], |
| 3832 "phased": true, | 4287 "phased": true, |
| 3833 "wildtypeAllele": "C", | 4288 "wildtypeAllele": "C", |
| 3834 "mismatch": false | 4289 "mismatch": false, |
| 4290 "warnings": [] | |
| 3835 }, | 4291 }, |
| 3836 { | 4292 { |
| 3837 "gene": "DPYD", | 4293 "gene": "DPYD", |
| 3838 "chromosome": "chr1", | 4294 "chromosome": "chr1", |
| 3839 "position": 97515889, | 4295 "position": 97515889, |
| 3842 "alleles": [ | 4298 "alleles": [ |
| 3843 "c.1577C\u003eG" | 4299 "c.1577C\u003eG" |
| 3844 ], | 4300 ], |
| 3845 "phased": true, | 4301 "phased": true, |
| 3846 "wildtypeAllele": "G", | 4302 "wildtypeAllele": "G", |
| 3847 "mismatch": false | 4303 "mismatch": false, |
| 4304 "warnings": [] | |
| 3848 }, | 4305 }, |
| 3849 { | 4306 { |
| 3850 "gene": "DPYD", | 4307 "gene": "DPYD", |
| 3851 "chromosome": "chr1", | 4308 "chromosome": "chr1", |
| 3852 "position": 97515923, | 4309 "position": 97515923, |
| 3855 "alleles": [ | 4312 "alleles": [ |
| 3856 "c.1543G\u003eA" | 4313 "c.1543G\u003eA" |
| 3857 ], | 4314 ], |
| 3858 "phased": true, | 4315 "phased": true, |
| 3859 "wildtypeAllele": "C", | 4316 "wildtypeAllele": "C", |
| 3860 "mismatch": false | 4317 "mismatch": false, |
| 4318 "warnings": [] | |
| 3861 }, | 4319 }, |
| 3862 { | 4320 { |
| 3863 "gene": "DPYD", | 4321 "gene": "DPYD", |
| 3864 "chromosome": "chr1", | 4322 "chromosome": "chr1", |
| 3865 "position": 97549565, | 4323 "position": 97549565, |
| 3868 "alleles": [ | 4326 "alleles": [ |
| 3869 "c.1519G\u003eA" | 4327 "c.1519G\u003eA" |
| 3870 ], | 4328 ], |
| 3871 "phased": true, | 4329 "phased": true, |
| 3872 "wildtypeAllele": "C", | 4330 "wildtypeAllele": "C", |
| 3873 "mismatch": false | 4331 "mismatch": false, |
| 4332 "warnings": [] | |
| 3874 }, | 4333 }, |
| 3875 { | 4334 { |
| 3876 "gene": "DPYD", | 4335 "gene": "DPYD", |
| 3877 "chromosome": "chr1", | 4336 "chromosome": "chr1", |
| 3878 "position": 97549600, | 4337 "position": 97549600, |
| 3881 "alleles": [ | 4340 "alleles": [ |
| 3882 "c.1484A\u003eG" | 4341 "c.1484A\u003eG" |
| 3883 ], | 4342 ], |
| 3884 "phased": true, | 4343 "phased": true, |
| 3885 "wildtypeAllele": "T", | 4344 "wildtypeAllele": "T", |
| 3886 "mismatch": false | 4345 "mismatch": false, |
| 4346 "warnings": [] | |
| 3887 }, | 4347 }, |
| 3888 { | 4348 { |
| 3889 "gene": "DPYD", | 4349 "gene": "DPYD", |
| 3890 "chromosome": "chr1", | 4350 "chromosome": "chr1", |
| 3891 "position": 97549609, | 4351 "position": 97549609, |
| 3894 "alleles": [ | 4354 "alleles": [ |
| 3895 "c.1475C\u003eT" | 4355 "c.1475C\u003eT" |
| 3896 ], | 4356 ], |
| 3897 "phased": true, | 4357 "phased": true, |
| 3898 "wildtypeAllele": "G", | 4358 "wildtypeAllele": "G", |
| 3899 "mismatch": false | 4359 "mismatch": false, |
| 4360 "warnings": [] | |
| 3900 }, | 4361 }, |
| 3901 { | 4362 { |
| 3902 "gene": "DPYD", | 4363 "gene": "DPYD", |
| 3903 "chromosome": "chr1", | 4364 "chromosome": "chr1", |
| 3904 "position": 97549681, | 4365 "position": 97549681, |
| 3907 "alleles": [ | 4368 "alleles": [ |
| 3908 "c.1403C\u003eA" | 4369 "c.1403C\u003eA" |
| 3909 ], | 4370 ], |
| 3910 "phased": true, | 4371 "phased": true, |
| 3911 "wildtypeAllele": "G", | 4372 "wildtypeAllele": "G", |
| 3912 "mismatch": false | 4373 "mismatch": false, |
| 4374 "warnings": [] | |
| 3913 }, | 4375 }, |
| 3914 { | 4376 { |
| 3915 "gene": "DPYD", | 4377 "gene": "DPYD", |
| 3916 "chromosome": "chr1", | 4378 "chromosome": "chr1", |
| 3917 "position": 97549713, | 4379 "position": 97549713, |
| 3920 "alleles": [ | 4382 "alleles": [ |
| 3921 "c.1371C\u003eT" | 4383 "c.1371C\u003eT" |
| 3922 ], | 4384 ], |
| 3923 "phased": true, | 4385 "phased": true, |
| 3924 "wildtypeAllele": "G", | 4386 "wildtypeAllele": "G", |
| 3925 "mismatch": false | 4387 "mismatch": false, |
| 4388 "warnings": [] | |
| 3926 }, | 4389 }, |
| 3927 { | 4390 { |
| 3928 "gene": "DPYD", | 4391 "gene": "DPYD", |
| 3929 "chromosome": "chr1", | 4392 "chromosome": "chr1", |
| 3930 "position": 97549726, | 4393 "position": 97549726, |
| 3933 "alleles": [ | 4396 "alleles": [ |
| 3934 "c.1358C\u003eG" | 4397 "c.1358C\u003eG" |
| 3935 ], | 4398 ], |
| 3936 "phased": true, | 4399 "phased": true, |
| 3937 "wildtypeAllele": "G", | 4400 "wildtypeAllele": "G", |
| 3938 "mismatch": false | 4401 "mismatch": false, |
| 4402 "warnings": [] | |
| 3939 }, | 4403 }, |
| 3940 { | 4404 { |
| 3941 "gene": "DPYD", | 4405 "gene": "DPYD", |
| 3942 "chromosome": "chr1", | 4406 "chromosome": "chr1", |
| 3943 "position": 97549735, | 4407 "position": 97549735, |
| 3946 "alleles": [ | 4410 "alleles": [ |
| 3947 "c.1349C\u003eT" | 4411 "c.1349C\u003eT" |
| 3948 ], | 4412 ], |
| 3949 "phased": true, | 4413 "phased": true, |
| 3950 "wildtypeAllele": "G", | 4414 "wildtypeAllele": "G", |
| 3951 "mismatch": false | 4415 "mismatch": false, |
| 4416 "warnings": [] | |
| 3952 }, | 4417 }, |
| 3953 { | 4418 { |
| 3954 "gene": "DPYD", | 4419 "gene": "DPYD", |
| 3955 "chromosome": "chr1", | 4420 "chromosome": "chr1", |
| 3956 "position": 97573785, | 4421 "position": 97573785, |
| 3959 "alleles": [ | 4424 "alleles": [ |
| 3960 "c.1314T\u003eG" | 4425 "c.1314T\u003eG" |
| 3961 ], | 4426 ], |
| 3962 "phased": true, | 4427 "phased": true, |
| 3963 "wildtypeAllele": "A", | 4428 "wildtypeAllele": "A", |
| 3964 "mismatch": false | 4429 "mismatch": false, |
| 4430 "warnings": [] | |
| 3965 }, | 4431 }, |
| 3966 { | 4432 { |
| 3967 "gene": "DPYD", | 4433 "gene": "DPYD", |
| 3968 "chromosome": "chr1", | 4434 "chromosome": "chr1", |
| 3969 "position": 97573805, | 4435 "position": 97573805, |
| 3972 "alleles": [ | 4438 "alleles": [ |
| 3973 "c.1294G\u003eA" | 4439 "c.1294G\u003eA" |
| 3974 ], | 4440 ], |
| 3975 "phased": true, | 4441 "phased": true, |
| 3976 "wildtypeAllele": "C", | 4442 "wildtypeAllele": "C", |
| 3977 "mismatch": false | 4443 "mismatch": false, |
| 4444 "warnings": [] | |
| 3978 }, | 4445 }, |
| 3979 { | 4446 { |
| 3980 "gene": "DPYD", | 4447 "gene": "DPYD", |
| 3981 "chromosome": "chr1", | 4448 "chromosome": "chr1", |
| 3982 "position": 97573821, | 4449 "position": 97573821, |
| 3985 "alleles": [ | 4452 "alleles": [ |
| 3986 "c.1278G\u003eT" | 4453 "c.1278G\u003eT" |
| 3987 ], | 4454 ], |
| 3988 "phased": true, | 4455 "phased": true, |
| 3989 "wildtypeAllele": "C", | 4456 "wildtypeAllele": "C", |
| 3990 "mismatch": false | 4457 "mismatch": false, |
| 4458 "warnings": [] | |
| 3991 }, | 4459 }, |
| 3992 { | 4460 { |
| 3993 "gene": "DPYD", | 4461 "gene": "DPYD", |
| 3994 "chromosome": "chr1", | 4462 "chromosome": "chr1", |
| 3995 "position": 97573839, | 4463 "position": 97573839, |
| 3998 "alleles": [ | 4466 "alleles": [ |
| 3999 "c.1260T\u003eA" | 4467 "c.1260T\u003eA" |
| 4000 ], | 4468 ], |
| 4001 "phased": true, | 4469 "phased": true, |
| 4002 "wildtypeAllele": "A", | 4470 "wildtypeAllele": "A", |
| 4003 "mismatch": false | 4471 "mismatch": false, |
| 4472 "warnings": [] | |
| 4004 }, | 4473 }, |
| 4005 { | 4474 { |
| 4006 "gene": "DPYD", | 4475 "gene": "DPYD", |
| 4007 "chromosome": "chr1", | 4476 "chromosome": "chr1", |
| 4008 "position": 97573863, | 4477 "position": 97573863, |
| 4011 "alleles": [ | 4480 "alleles": [ |
| 4012 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4481 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
| 4013 ], | 4482 ], |
| 4014 "phased": true, | 4483 "phased": true, |
| 4015 "wildtypeAllele": "C", | 4484 "wildtypeAllele": "C", |
| 4016 "mismatch": false | 4485 "mismatch": false, |
| 4486 "warnings": [] | |
| 4017 }, | 4487 }, |
| 4018 { | 4488 { |
| 4019 "gene": "DPYD", | 4489 "gene": "DPYD", |
| 4020 "chromosome": "chr1", | 4490 "chromosome": "chr1", |
| 4021 "position": 97573881, | 4491 "position": 97573881, |
| 4024 "alleles": [ | 4494 "alleles": [ |
| 4025 "c.1218G\u003eA" | 4495 "c.1218G\u003eA" |
| 4026 ], | 4496 ], |
| 4027 "phased": true, | 4497 "phased": true, |
| 4028 "wildtypeAllele": "C", | 4498 "wildtypeAllele": "C", |
| 4029 "mismatch": false | 4499 "mismatch": false, |
| 4500 "warnings": [] | |
| 4030 }, | 4501 }, |
| 4031 { | 4502 { |
| 4032 "gene": "DPYD", | 4503 "gene": "DPYD", |
| 4033 "chromosome": "chr1", | 4504 "chromosome": "chr1", |
| 4034 "position": 97573918, | 4505 "position": 97573918, |
| 4037 "alleles": [ | 4508 "alleles": [ |
| 4038 "c.1181G\u003eT" | 4509 "c.1181G\u003eT" |
| 4039 ], | 4510 ], |
| 4040 "phased": true, | 4511 "phased": true, |
| 4041 "wildtypeAllele": "C", | 4512 "wildtypeAllele": "C", |
| 4042 "mismatch": false | 4513 "mismatch": false, |
| 4514 "warnings": [] | |
| 4043 }, | 4515 }, |
| 4044 { | 4516 { |
| 4045 "gene": "DPYD", | 4517 "gene": "DPYD", |
| 4046 "chromosome": "chr1", | 4518 "chromosome": "chr1", |
| 4047 "position": 97573919, | 4519 "position": 97573919, |
| 4050 "alleles": [ | 4522 "alleles": [ |
| 4051 "c.1180C\u003eT" | 4523 "c.1180C\u003eT" |
| 4052 ], | 4524 ], |
| 4053 "phased": true, | 4525 "phased": true, |
| 4054 "wildtypeAllele": "G", | 4526 "wildtypeAllele": "G", |
| 4055 "mismatch": false | 4527 "mismatch": false, |
| 4528 "warnings": [] | |
| 4056 }, | 4529 }, |
| 4057 { | 4530 { |
| 4058 "gene": "DPYD", | 4531 "gene": "DPYD", |
| 4059 "chromosome": "chr1", | 4532 "chromosome": "chr1", |
| 4060 "position": 97573943, | 4533 "position": 97573943, |
| 4063 "alleles": [ | 4536 "alleles": [ |
| 4064 "c.1156G\u003eT (*12)" | 4537 "c.1156G\u003eT (*12)" |
| 4065 ], | 4538 ], |
| 4066 "phased": true, | 4539 "phased": true, |
| 4067 "wildtypeAllele": "C", | 4540 "wildtypeAllele": "C", |
| 4068 "mismatch": false | 4541 "mismatch": false, |
| 4542 "warnings": [] | |
| 4069 }, | 4543 }, |
| 4070 { | 4544 { |
| 4071 "gene": "DPYD", | 4545 "gene": "DPYD", |
| 4072 "chromosome": "chr1", | 4546 "chromosome": "chr1", |
| 4073 "position": 97579893, | 4547 "position": 97579893, |
| 4076 "alleles": [ | 4550 "alleles": [ |
| 4077 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4551 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
| 4078 ], | 4552 ], |
| 4079 "phased": true, | 4553 "phased": true, |
| 4080 "wildtypeAllele": "G", | 4554 "wildtypeAllele": "G", |
| 4081 "mismatch": false | 4555 "mismatch": false, |
| 4556 "warnings": [] | |
| 4082 }, | 4557 }, |
| 4083 { | 4558 { |
| 4084 "gene": "DPYD", | 4559 "gene": "DPYD", |
| 4085 "chromosome": "chr1", | 4560 "chromosome": "chr1", |
| 4086 "position": 97593238, | 4561 "position": 97593238, |
| 4089 "alleles": [ | 4564 "alleles": [ |
| 4090 "c.1108A\u003eG" | 4565 "c.1108A\u003eG" |
| 4091 ], | 4566 ], |
| 4092 "phased": true, | 4567 "phased": true, |
| 4093 "wildtypeAllele": "T", | 4568 "wildtypeAllele": "T", |
| 4094 "mismatch": false | 4569 "mismatch": false, |
| 4570 "warnings": [] | |
| 4095 }, | 4571 }, |
| 4096 { | 4572 { |
| 4097 "gene": "DPYD", | 4573 "gene": "DPYD", |
| 4098 "chromosome": "chr1", | 4574 "chromosome": "chr1", |
| 4099 "position": 97593289, | 4575 "position": 97593289, |
| 4102 "alleles": [ | 4578 "alleles": [ |
| 4103 "c.1057C\u003eT" | 4579 "c.1057C\u003eT" |
| 4104 ], | 4580 ], |
| 4105 "phased": true, | 4581 "phased": true, |
| 4106 "wildtypeAllele": "G", | 4582 "wildtypeAllele": "G", |
| 4107 "mismatch": false | 4583 "mismatch": false, |
| 4584 "warnings": [] | |
| 4108 }, | 4585 }, |
| 4109 { | 4586 { |
| 4110 "gene": "DPYD", | 4587 "gene": "DPYD", |
| 4111 "chromosome": "chr1", | 4588 "chromosome": "chr1", |
| 4112 "position": 97593322, | 4589 "position": 97593322, |
| 4115 "alleles": [ | 4592 "alleles": [ |
| 4116 "c.1024G\u003eA" | 4593 "c.1024G\u003eA" |
| 4117 ], | 4594 ], |
| 4118 "phased": true, | 4595 "phased": true, |
| 4119 "wildtypeAllele": "C", | 4596 "wildtypeAllele": "C", |
| 4120 "mismatch": false | 4597 "mismatch": false, |
| 4598 "warnings": [] | |
| 4121 }, | 4599 }, |
| 4122 { | 4600 { |
| 4123 "gene": "DPYD", | 4601 "gene": "DPYD", |
| 4124 "chromosome": "chr1", | 4602 "chromosome": "chr1", |
| 4125 "position": 97593343, | 4603 "position": 97593343, |
| 4128 "alleles": [ | 4606 "alleles": [ |
| 4129 "c.1003G\u003eT (*11)" | 4607 "c.1003G\u003eT (*11)" |
| 4130 ], | 4608 ], |
| 4131 "phased": true, | 4609 "phased": true, |
| 4132 "wildtypeAllele": "C", | 4610 "wildtypeAllele": "C", |
| 4133 "mismatch": false | 4611 "mismatch": false, |
| 4612 "warnings": [] | |
| 4134 }, | 4613 }, |
| 4135 { | 4614 { |
| 4136 "gene": "DPYD", | 4615 "gene": "DPYD", |
| 4137 "chromosome": "chr1", | 4616 "chromosome": "chr1", |
| 4138 "position": 97593379, | 4617 "position": 97593379, |
| 4141 "alleles": [ | 4620 "alleles": [ |
| 4142 "c.967G\u003eA" | 4621 "c.967G\u003eA" |
| 4143 ], | 4622 ], |
| 4144 "phased": true, | 4623 "phased": true, |
| 4145 "wildtypeAllele": "C", | 4624 "wildtypeAllele": "C", |
| 4146 "mismatch": false | 4625 "mismatch": false, |
| 4626 "warnings": [] | |
| 4147 }, | 4627 }, |
| 4148 { | 4628 { |
| 4149 "gene": "DPYD", | 4629 "gene": "DPYD", |
| 4150 "chromosome": "chr1", | 4630 "chromosome": "chr1", |
| 4151 "position": 97595083, | 4631 "position": 97595083, |
| 4154 "alleles": [ | 4634 "alleles": [ |
| 4155 "c.934C\u003eT" | 4635 "c.934C\u003eT" |
| 4156 ], | 4636 ], |
| 4157 "phased": true, | 4637 "phased": true, |
| 4158 "wildtypeAllele": "G", | 4638 "wildtypeAllele": "G", |
| 4159 "mismatch": false | 4639 "mismatch": false, |
| 4640 "warnings": [] | |
| 4160 }, | 4641 }, |
| 4161 { | 4642 { |
| 4162 "gene": "DPYD", | 4643 "gene": "DPYD", |
| 4163 "chromosome": "chr1", | 4644 "chromosome": "chr1", |
| 4164 "position": 97595088, | 4645 "position": 97595088, |
| 4167 "alleles": [ | 4648 "alleles": [ |
| 4168 "c.929T\u003eC" | 4649 "c.929T\u003eC" |
| 4169 ], | 4650 ], |
| 4170 "phased": true, | 4651 "phased": true, |
| 4171 "wildtypeAllele": "A", | 4652 "wildtypeAllele": "A", |
| 4172 "mismatch": false | 4653 "mismatch": false, |
| 4654 "warnings": [] | |
| 4173 }, | 4655 }, |
| 4174 { | 4656 { |
| 4175 "gene": "DPYD", | 4657 "gene": "DPYD", |
| 4176 "chromosome": "chr1", | 4658 "chromosome": "chr1", |
| 4177 "position": 97595149, | 4659 "position": 97595149, |
| 4180 "alleles": [ | 4662 "alleles": [ |
| 4181 "c.868A\u003eG" | 4663 "c.868A\u003eG" |
| 4182 ], | 4664 ], |
| 4183 "phased": true, | 4665 "phased": true, |
| 4184 "wildtypeAllele": "T", | 4666 "wildtypeAllele": "T", |
| 4185 "mismatch": false | 4667 "mismatch": false, |
| 4668 "warnings": [] | |
| 4186 }, | 4669 }, |
| 4187 { | 4670 { |
| 4188 "gene": "DPYD", | 4671 "gene": "DPYD", |
| 4189 "chromosome": "chr1", | 4672 "chromosome": "chr1", |
| 4190 "position": 97679170, | 4673 "position": 97679170, |
| 4193 "alleles": [ | 4676 "alleles": [ |
| 4194 "c.775A\u003eG" | 4677 "c.775A\u003eG" |
| 4195 ], | 4678 ], |
| 4196 "phased": true, | 4679 "phased": true, |
| 4197 "wildtypeAllele": "T", | 4680 "wildtypeAllele": "T", |
| 4198 "mismatch": false | 4681 "mismatch": false, |
| 4682 "warnings": [] | |
| 4199 }, | 4683 }, |
| 4200 { | 4684 { |
| 4201 "gene": "DPYD", | 4685 "gene": "DPYD", |
| 4202 "chromosome": "chr1", | 4686 "chromosome": "chr1", |
| 4203 "position": 97691776, | 4687 "position": 97691776, |
| 4206 "alleles": [ | 4690 "alleles": [ |
| 4207 "c.703C\u003eT (*8)" | 4691 "c.703C\u003eT (*8)" |
| 4208 ], | 4692 ], |
| 4209 "phased": true, | 4693 "phased": true, |
| 4210 "wildtypeAllele": "G", | 4694 "wildtypeAllele": "G", |
| 4211 "mismatch": false | 4695 "mismatch": false, |
| 4696 "warnings": [] | |
| 4212 }, | 4697 }, |
| 4213 { | 4698 { |
| 4214 "gene": "DPYD", | 4699 "gene": "DPYD", |
| 4215 "chromosome": "chr1", | 4700 "chromosome": "chr1", |
| 4216 "position": 97699399, | 4701 "position": 97699399, |
| 4219 "alleles": [ | 4704 "alleles": [ |
| 4220 "c.632A\u003eG" | 4705 "c.632A\u003eG" |
| 4221 ], | 4706 ], |
| 4222 "phased": true, | 4707 "phased": true, |
| 4223 "wildtypeAllele": "T", | 4708 "wildtypeAllele": "T", |
| 4224 "mismatch": false | 4709 "mismatch": false, |
| 4710 "warnings": [] | |
| 4225 }, | 4711 }, |
| 4226 { | 4712 { |
| 4227 "gene": "DPYD", | 4713 "gene": "DPYD", |
| 4228 "chromosome": "chr1", | 4714 "chromosome": "chr1", |
| 4229 "position": 97699430, | 4715 "position": 97699430, |
| 4232 "alleles": [ | 4718 "alleles": [ |
| 4233 "c.601A\u003eC" | 4719 "c.601A\u003eC" |
| 4234 ], | 4720 ], |
| 4235 "phased": true, | 4721 "phased": true, |
| 4236 "wildtypeAllele": "T", | 4722 "wildtypeAllele": "T", |
| 4237 "mismatch": false | 4723 "mismatch": false, |
| 4724 "warnings": [] | |
| 4238 }, | 4725 }, |
| 4239 { | 4726 { |
| 4240 "gene": "DPYD", | 4727 "gene": "DPYD", |
| 4241 "chromosome": "chr1", | 4728 "chromosome": "chr1", |
| 4242 "position": 97699474, | 4729 "position": 97699474, |
| 4245 "alleles": [ | 4732 "alleles": [ |
| 4246 "c.557A\u003eG" | 4733 "c.557A\u003eG" |
| 4247 ], | 4734 ], |
| 4248 "phased": true, | 4735 "phased": true, |
| 4249 "wildtypeAllele": "T", | 4736 "wildtypeAllele": "T", |
| 4250 "mismatch": false | 4737 "mismatch": false, |
| 4738 "warnings": [] | |
| 4251 }, | 4739 }, |
| 4252 { | 4740 { |
| 4253 "gene": "DPYD", | 4741 "gene": "DPYD", |
| 4254 "chromosome": "chr1", | 4742 "chromosome": "chr1", |
| 4255 "position": 97699506, | 4743 "position": 97699506, |
| 4258 "alleles": [ | 4746 "alleles": [ |
| 4259 "c.525G\u003eA" | 4747 "c.525G\u003eA" |
| 4260 ], | 4748 ], |
| 4261 "phased": true, | 4749 "phased": true, |
| 4262 "wildtypeAllele": "C", | 4750 "wildtypeAllele": "C", |
| 4263 "mismatch": false | 4751 "mismatch": false, |
| 4752 "warnings": [] | |
| 4264 }, | 4753 }, |
| 4265 { | 4754 { |
| 4266 "gene": "DPYD", | 4755 "gene": "DPYD", |
| 4267 "chromosome": "chr1", | 4756 "chromosome": "chr1", |
| 4268 "position": 97699533, | 4757 "position": 97699533, |
| 4271 "alleles": [ | 4760 "alleles": [ |
| 4272 "c.498G\u003eA" | 4761 "c.498G\u003eA" |
| 4273 ], | 4762 ], |
| 4274 "phased": true, | 4763 "phased": true, |
| 4275 "wildtypeAllele": "C", | 4764 "wildtypeAllele": "C", |
| 4276 "mismatch": false | 4765 "mismatch": false, |
| 4766 "warnings": [] | |
| 4277 }, | 4767 }, |
| 4278 { | 4768 { |
| 4279 "gene": "DPYD", | 4769 "gene": "DPYD", |
| 4280 "chromosome": "chr1", | 4770 "chromosome": "chr1", |
| 4281 "position": 97699535, | 4771 "position": 97699535, |
| 4284 "alleles": [ | 4774 "alleles": [ |
| 4285 "c.496A\u003eG" | 4775 "c.496A\u003eG" |
| 4286 ], | 4776 ], |
| 4287 "phased": true, | 4777 "phased": true, |
| 4288 "wildtypeAllele": "T", | 4778 "wildtypeAllele": "T", |
| 4289 "mismatch": false | 4779 "mismatch": false, |
| 4780 "warnings": [] | |
| 4290 }, | 4781 }, |
| 4291 { | 4782 { |
| 4292 "gene": "DPYD", | 4783 "gene": "DPYD", |
| 4293 "chromosome": "chr1", | 4784 "chromosome": "chr1", |
| 4294 "position": 97721542, | 4785 "position": 97721542, |
| 4297 "alleles": [ | 4788 "alleles": [ |
| 4298 "c.451A\u003eG" | 4789 "c.451A\u003eG" |
| 4299 ], | 4790 ], |
| 4300 "phased": true, | 4791 "phased": true, |
| 4301 "wildtypeAllele": "T", | 4792 "wildtypeAllele": "T", |
| 4302 "mismatch": false | 4793 "mismatch": false, |
| 4794 "warnings": [] | |
| 4303 }, | 4795 }, |
| 4304 { | 4796 { |
| 4305 "gene": "DPYD", | 4797 "gene": "DPYD", |
| 4306 "chromosome": "chr1", | 4798 "chromosome": "chr1", |
| 4307 "position": 97721650, | 4799 "position": 97721650, |
| 4310 "alleles": [ | 4802 "alleles": [ |
| 4311 "c.343A\u003eG" | 4803 "c.343A\u003eG" |
| 4312 ], | 4804 ], |
| 4313 "phased": true, | 4805 "phased": true, |
| 4314 "wildtypeAllele": "T", | 4806 "wildtypeAllele": "T", |
| 4315 "mismatch": false | 4807 "mismatch": false, |
| 4808 "warnings": [] | |
| 4316 }, | 4809 }, |
| 4317 { | 4810 { |
| 4318 "gene": "DPYD", | 4811 "gene": "DPYD", |
| 4319 "chromosome": "chr1", | 4812 "chromosome": "chr1", |
| 4320 "position": 97740400, | 4813 "position": 97740400, |
| 4323 "alleles": [ | 4816 "alleles": [ |
| 4324 "c.313G\u003eA" | 4817 "c.313G\u003eA" |
| 4325 ], | 4818 ], |
| 4326 "phased": true, | 4819 "phased": true, |
| 4327 "wildtypeAllele": "C", | 4820 "wildtypeAllele": "C", |
| 4328 "mismatch": false | 4821 "mismatch": false, |
| 4822 "warnings": [] | |
| 4329 }, | 4823 }, |
| 4330 { | 4824 { |
| 4331 "gene": "DPYD", | 4825 "gene": "DPYD", |
| 4332 "chromosome": "chr1", | 4826 "chromosome": "chr1", |
| 4333 "position": 97740410, | 4827 "position": 97740410, |
| 4336 "alleles": [ | 4830 "alleles": [ |
| 4337 "c.295_298delTCAT (*7)" | 4831 "c.295_298delTCAT (*7)" |
| 4338 ], | 4832 ], |
| 4339 "phased": true, | 4833 "phased": true, |
| 4340 "wildtypeAllele": "GATGA", | 4834 "wildtypeAllele": "GATGA", |
| 4341 "mismatch": false | 4835 "mismatch": false, |
| 4836 "warnings": [] | |
| 4342 }, | 4837 }, |
| 4343 { | 4838 { |
| 4344 "gene": "DPYD", | 4839 "gene": "DPYD", |
| 4345 "chromosome": "chr1", | 4840 "chromosome": "chr1", |
| 4346 "position": 97883329, | 4841 "position": 97883329, |
| 4349 "alleles": [ | 4844 "alleles": [ |
| 4350 "c.85T\u003eC (*9A)" | 4845 "c.85T\u003eC (*9A)" |
| 4351 ], | 4846 ], |
| 4352 "phased": true, | 4847 "phased": true, |
| 4353 "wildtypeAllele": "A", | 4848 "wildtypeAllele": "A", |
| 4354 "mismatch": false | 4849 "mismatch": false, |
| 4850 "warnings": [] | |
| 4355 }, | 4851 }, |
| 4356 { | 4852 { |
| 4357 "gene": "DPYD", | 4853 "gene": "DPYD", |
| 4358 "chromosome": "chr1", | 4854 "chromosome": "chr1", |
| 4359 "position": 97883352, | 4855 "position": 97883352, |
| 4362 "alleles": [ | 4858 "alleles": [ |
| 4363 "c.62G\u003eA" | 4859 "c.62G\u003eA" |
| 4364 ], | 4860 ], |
| 4365 "phased": true, | 4861 "phased": true, |
| 4366 "wildtypeAllele": "C", | 4862 "wildtypeAllele": "C", |
| 4367 "mismatch": false | 4863 "mismatch": false, |
| 4864 "warnings": [] | |
| 4368 }, | 4865 }, |
| 4369 { | 4866 { |
| 4370 "gene": "DPYD", | 4867 "gene": "DPYD", |
| 4371 "chromosome": "chr1", | 4868 "chromosome": "chr1", |
| 4372 "position": 97883353, | 4869 "position": 97883353, |
| 4375 "alleles": [ | 4872 "alleles": [ |
| 4376 "c.61C\u003eT" | 4873 "c.61C\u003eT" |
| 4377 ], | 4874 ], |
| 4378 "phased": true, | 4875 "phased": true, |
| 4379 "wildtypeAllele": "G", | 4876 "wildtypeAllele": "G", |
| 4380 "mismatch": false | 4877 "mismatch": false, |
| 4878 "warnings": [] | |
| 4381 }, | 4879 }, |
| 4382 { | 4880 { |
| 4383 "gene": "DPYD", | 4881 "gene": "DPYD", |
| 4384 "chromosome": "chr1", | 4882 "chromosome": "chr1", |
| 4385 "position": 97883368, | 4883 "position": 97883368, |
| 4388 "alleles": [ | 4886 "alleles": [ |
| 4389 "c.46C\u003eG" | 4887 "c.46C\u003eG" |
| 4390 ], | 4888 ], |
| 4391 "phased": true, | 4889 "phased": true, |
| 4392 "wildtypeAllele": "G", | 4890 "wildtypeAllele": "G", |
| 4393 "mismatch": false | 4891 "mismatch": false, |
| 4892 "warnings": [] | |
| 4394 } | 4893 } |
| 4395 ], | 4894 ], |
| 4396 "variantsOfInterest": [], | 4895 "variantsOfInterest": [], |
| 4397 "highlightedVariants": [] | 4896 "highlightedVariants": [] |
| 4398 }, | 4897 }, |
| 4407 { | 4906 { |
| 4408 "name": "rasburicase", | 4907 "name": "rasburicase", |
| 4409 "guidelineId": "RxNorm:283821" | 4908 "guidelineId": "RxNorm:283821" |
| 4410 } | 4909 } |
| 4411 ], | 4910 ], |
| 4412 "matcherDiplotypes": [ | 4911 "matcherDiplotypes": [], |
| 4912 "diplotypes": [ | |
| 4413 { | 4913 { |
| 4414 "allele1": { | 4914 "allele1": { |
| 4415 "gene": "G6PD", | 4915 "gene": "G6PD", |
| 4416 "name": "B (wildtype)", | 4916 "name": "B (wildtype)", |
| 4417 "function": "Normal function", | 4917 "function": "Normal function", |
| 4422 "name": "B (wildtype)", | 4922 "name": "B (wildtype)", |
| 4423 "function": "Normal function", | 4923 "function": "Normal function", |
| 4424 "reference": true | 4924 "reference": true |
| 4425 }, | 4925 }, |
| 4426 "gene": "G6PD", | 4926 "gene": "G6PD", |
| 4427 "phenotype": "Normal", | 4927 "phenotypes": [ |
| 4928 "Normal" | |
| 4929 ], | |
| 4428 "variant": null, | 4930 "variant": null, |
| 4429 "lookupKey": "Normal", | 4931 "lookupKey": [ |
| 4430 "label": "B (wildtype)/B (wildtype)" | 4932 "Normal" |
| 4431 } | 4933 ], |
| 4432 ], | |
| 4433 "diplotypes": [ | |
| 4434 { | |
| 4435 "allele1": { | |
| 4436 "gene": "G6PD", | |
| 4437 "name": "B (wildtype)", | |
| 4438 "function": "Normal function", | |
| 4439 "reference": true | |
| 4440 }, | |
| 4441 "allele2": { | |
| 4442 "gene": "G6PD", | |
| 4443 "name": "B (wildtype)", | |
| 4444 "function": "Normal function", | |
| 4445 "reference": true | |
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| 4846 { | 5339 { |
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| 4975 { | 5477 { |
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| 5022 { | 5530 { |
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| 5029 "c.487C\u003eT" | 5537 "c.487C\u003eT" |
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| 5034 }, | 5543 }, |
| 5035 { | 5544 { |
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| 5042 "c.488G\u003eT" | 5551 "c.488G\u003eT" |
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| 5045 "wildtypeAllele": "G", | 5554 "wildtypeAllele": "G", |
| 5046 "mismatch": false | 5555 "mismatch": false, |
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| 5047 }, | 5557 }, |
| 5048 { | 5558 { |
| 5049 "gene": "RYR1", | 5559 "gene": "RYR1", |
| 5050 "chromosome": "chr19", | 5560 "chromosome": "chr19", |
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| 5055 "c.742G\u003eA", | 5565 "c.742G\u003eA", |
| 5056 "c.742G\u003eC" | 5566 "c.742G\u003eC" |
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| 5571 "warnings": [] | |
| 5061 }, | 5572 }, |
| 5062 { | 5573 { |
| 5063 "gene": "RYR1", | 5574 "gene": "RYR1", |
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| 5069 "c.982C\u003eT" | 5580 "c.982C\u003eT" |
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| 5072 "wildtypeAllele": "C", | 5583 "wildtypeAllele": "C", |
| 5073 "mismatch": false | 5584 "mismatch": false, |
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| 5075 { | 5587 { |
| 5076 "gene": "RYR1", | 5588 "gene": "RYR1", |
| 5077 "chromosome": "chr19", | 5589 "chromosome": "chr19", |
| 5078 "position": 38448712, | 5590 "position": 38448712, |
| 5082 "c.1021G\u003eA", | 5594 "c.1021G\u003eA", |
| 5083 "c.1021G\u003eC" | 5595 "c.1021G\u003eC" |
| 5084 ], | 5596 ], |
| 5085 "phased": true, | 5597 "phased": true, |
| 5086 "wildtypeAllele": "G", | 5598 "wildtypeAllele": "G", |
| 5087 "mismatch": false | 5599 "mismatch": false, |
| 5600 "warnings": [] | |
| 5088 }, | 5601 }, |
| 5089 { | 5602 { |
| 5090 "gene": "RYR1", | 5603 "gene": "RYR1", |
| 5091 "chromosome": "chr19", | 5604 "chromosome": "chr19", |
| 5092 "position": 38451842, | 5605 "position": 38451842, |
| 5095 "alleles": [ | 5608 "alleles": [ |
| 5096 "c.1201C\u003eT" | 5609 "c.1201C\u003eT" |
| 5097 ], | 5610 ], |
| 5098 "phased": true, | 5611 "phased": true, |
| 5099 "wildtypeAllele": "C", | 5612 "wildtypeAllele": "C", |
| 5100 "mismatch": false | 5613 "mismatch": false, |
| 5614 "warnings": [] | |
| 5101 }, | 5615 }, |
| 5102 { | 5616 { |
| 5103 "gene": "RYR1", | 5617 "gene": "RYR1", |
| 5104 "chromosome": "chr19", | 5618 "chromosome": "chr19", |
| 5105 "position": 38451850, | 5619 "position": 38451850, |
| 5108 "alleles": [ | 5622 "alleles": [ |
| 5109 "c.1209C\u003eG" | 5623 "c.1209C\u003eG" |
| 5110 ], | 5624 ], |
| 5111 "phased": true, | 5625 "phased": true, |
| 5112 "wildtypeAllele": "C", | 5626 "wildtypeAllele": "C", |
| 5113 "mismatch": false | 5627 "mismatch": false, |
| 5628 "warnings": [] | |
| 5114 }, | 5629 }, |
| 5115 { | 5630 { |
| 5116 "gene": "RYR1", | 5631 "gene": "RYR1", |
| 5117 "chromosome": "chr19", | 5632 "chromosome": "chr19", |
| 5118 "position": 38455359, | 5633 "position": 38455359, |
| 5121 "alleles": [ | 5636 "alleles": [ |
| 5122 "c.1565A\u003eC" | 5637 "c.1565A\u003eC" |
| 5123 ], | 5638 ], |
| 5124 "phased": true, | 5639 "phased": true, |
| 5125 "wildtypeAllele": "A", | 5640 "wildtypeAllele": "A", |
| 5126 "mismatch": false | 5641 "mismatch": false, |
| 5642 "warnings": [] | |
| 5127 }, | 5643 }, |
| 5128 { | 5644 { |
| 5129 "gene": "RYR1", | 5645 "gene": "RYR1", |
| 5130 "chromosome": "chr19", | 5646 "chromosome": "chr19", |
| 5131 "position": 38455463, | 5647 "position": 38455463, |
| 5134 "alleles": [ | 5650 "alleles": [ |
| 5135 "c.1589G\u003eA" | 5651 "c.1589G\u003eA" |
| 5136 ], | 5652 ], |
| 5137 "phased": true, | 5653 "phased": true, |
| 5138 "wildtypeAllele": "G", | 5654 "wildtypeAllele": "G", |
| 5139 "mismatch": false | 5655 "mismatch": false, |
| 5656 "warnings": [] | |
| 5140 }, | 5657 }, |
| 5141 { | 5658 { |
| 5142 "gene": "RYR1", | 5659 "gene": "RYR1", |
| 5143 "chromosome": "chr19", | 5660 "chromosome": "chr19", |
| 5144 "position": 38455471, | 5661 "position": 38455471, |
| 5147 "alleles": [ | 5664 "alleles": [ |
| 5148 "c.1597C\u003eT" | 5665 "c.1597C\u003eT" |
| 5149 ], | 5666 ], |
| 5150 "phased": true, | 5667 "phased": true, |
| 5151 "wildtypeAllele": "C", | 5668 "wildtypeAllele": "C", |
| 5152 "mismatch": false | 5669 "mismatch": false, |
| 5670 "warnings": [] | |
| 5153 }, | 5671 }, |
| 5154 { | 5672 { |
| 5155 "gene": "RYR1", | 5673 "gene": "RYR1", |
| 5156 "chromosome": "chr19", | 5674 "chromosome": "chr19", |
| 5157 "position": 38455472, | 5675 "position": 38455472, |
| 5160 "alleles": [ | 5678 "alleles": [ |
| 5161 "c.1598G\u003eA" | 5679 "c.1598G\u003eA" |
| 5162 ], | 5680 ], |
| 5163 "phased": true, | 5681 "phased": true, |
| 5164 "wildtypeAllele": "G", | 5682 "wildtypeAllele": "G", |
| 5165 "mismatch": false | 5683 "mismatch": false, |
| 5684 "warnings": [] | |
| 5166 }, | 5685 }, |
| 5167 { | 5686 { |
| 5168 "gene": "RYR1", | 5687 "gene": "RYR1", |
| 5169 "chromosome": "chr19", | 5688 "chromosome": "chr19", |
| 5170 "position": 38455528, | 5689 "position": 38455528, |
| 5173 "alleles": [ | 5692 "alleles": [ |
| 5174 "c.1654C\u003eT" | 5693 "c.1654C\u003eT" |
| 5175 ], | 5694 ], |
| 5176 "phased": true, | 5695 "phased": true, |
| 5177 "wildtypeAllele": "C", | 5696 "wildtypeAllele": "C", |
| 5178 "mismatch": false | 5697 "mismatch": false, |
| 5698 "warnings": [] | |
| 5179 }, | 5699 }, |
| 5180 { | 5700 { |
| 5181 "gene": "RYR1", | 5701 "gene": "RYR1", |
| 5182 "chromosome": "chr19", | 5702 "chromosome": "chr19", |
| 5183 "position": 38457545, | 5703 "position": 38457545, |
| 5186 "alleles": [ | 5706 "alleles": [ |
| 5187 "c.1840C\u003eT" | 5707 "c.1840C\u003eT" |
| 5188 ], | 5708 ], |
| 5189 "phased": true, | 5709 "phased": true, |
| 5190 "wildtypeAllele": "C", | 5710 "wildtypeAllele": "C", |
| 5191 "mismatch": false | 5711 "mismatch": false, |
| 5712 "warnings": [] | |
| 5192 }, | 5713 }, |
| 5193 { | 5714 { |
| 5194 "gene": "RYR1", | 5715 "gene": "RYR1", |
| 5195 "chromosome": "chr19", | 5716 "chromosome": "chr19", |
| 5196 "position": 38457546, | 5717 "position": 38457546, |
| 5199 "alleles": [ | 5720 "alleles": [ |
| 5200 "c.1841G\u003eT" | 5721 "c.1841G\u003eT" |
| 5201 ], | 5722 ], |
| 5202 "phased": true, | 5723 "phased": true, |
| 5203 "wildtypeAllele": "G", | 5724 "wildtypeAllele": "G", |
| 5204 "mismatch": false | 5725 "mismatch": false, |
| 5726 "warnings": [] | |
| 5205 }, | 5727 }, |
| 5206 { | 5728 { |
| 5207 "gene": "RYR1", | 5729 "gene": "RYR1", |
| 5208 "chromosome": "chr19", | 5730 "chromosome": "chr19", |
| 5209 "position": 38494564, | 5731 "position": 38494564, |
| 5212 "alleles": [ | 5734 "alleles": [ |
| 5213 "c.6487C\u003eT" | 5735 "c.6487C\u003eT" |
| 5214 ], | 5736 ], |
| 5215 "phased": true, | 5737 "phased": true, |
| 5216 "wildtypeAllele": "C", | 5738 "wildtypeAllele": "C", |
| 5217 "mismatch": false | 5739 "mismatch": false, |
| 5740 "warnings": [] | |
| 5218 }, | 5741 }, |
| 5219 { | 5742 { |
| 5220 "gene": "RYR1", | 5743 "gene": "RYR1", |
| 5221 "chromosome": "chr19", | 5744 "chromosome": "chr19", |
| 5222 "position": 38494565, | 5745 "position": 38494565, |
| 5225 "alleles": [ | 5748 "alleles": [ |
| 5226 "c.6488G\u003eA" | 5749 "c.6488G\u003eA" |
| 5227 ], | 5750 ], |
| 5228 "phased": true, | 5751 "phased": true, |
| 5229 "wildtypeAllele": "G", | 5752 "wildtypeAllele": "G", |
| 5230 "mismatch": false | 5753 "mismatch": false, |
| 5754 "warnings": [] | |
| 5231 }, | 5755 }, |
| 5232 { | 5756 { |
| 5233 "gene": "RYR1", | 5757 "gene": "RYR1", |
| 5234 "chromosome": "chr19", | 5758 "chromosome": "chr19", |
| 5235 "position": 38494579, | 5759 "position": 38494579, |
| 5238 "alleles": [ | 5762 "alleles": [ |
| 5239 "c.6502G\u003eA" | 5763 "c.6502G\u003eA" |
| 5240 ], | 5764 ], |
| 5241 "phased": true, | 5765 "phased": true, |
| 5242 "wildtypeAllele": "G", | 5766 "wildtypeAllele": "G", |
| 5243 "mismatch": false | 5767 "mismatch": false, |
| 5768 "warnings": [] | |
| 5244 }, | 5769 }, |
| 5245 { | 5770 { |
| 5246 "gene": "RYR1", | 5771 "gene": "RYR1", |
| 5247 "chromosome": "chr19", | 5772 "chromosome": "chr19", |
| 5248 "position": 38496283, | 5773 "position": 38496283, |
| 5252 "c.6617C\u003eG", | 5777 "c.6617C\u003eG", |
| 5253 "c.6617C\u003eT" | 5778 "c.6617C\u003eT" |
| 5254 ], | 5779 ], |
| 5255 "phased": true, | 5780 "phased": true, |
| 5256 "wildtypeAllele": "C", | 5781 "wildtypeAllele": "C", |
| 5257 "mismatch": false | 5782 "mismatch": false, |
| 5783 "warnings": [] | |
| 5258 }, | 5784 }, |
| 5259 { | 5785 { |
| 5260 "gene": "RYR1", | 5786 "gene": "RYR1", |
| 5261 "chromosome": "chr19", | 5787 "chromosome": "chr19", |
| 5262 "position": 38499223, | 5788 "position": 38499223, |
| 5265 "alleles": [ | 5791 "alleles": [ |
| 5266 "c.7007G\u003eA" | 5792 "c.7007G\u003eA" |
| 5267 ], | 5793 ], |
| 5268 "phased": true, | 5794 "phased": true, |
| 5269 "wildtypeAllele": "G", | 5795 "wildtypeAllele": "G", |
| 5270 "mismatch": false | 5796 "mismatch": false, |
| 5797 "warnings": [] | |
| 5271 }, | 5798 }, |
| 5272 { | 5799 { |
| 5273 "gene": "RYR1", | 5800 "gene": "RYR1", |
| 5274 "chromosome": "chr19", | 5801 "chromosome": "chr19", |
| 5275 "position": 38499644, | 5802 "position": 38499644, |
| 5278 "alleles": [ | 5805 "alleles": [ |
| 5279 "c.7042_7044delGAG" | 5806 "c.7042_7044delGAG" |
| 5280 ], | 5807 ], |
| 5281 "phased": true, | 5808 "phased": true, |
| 5282 "wildtypeAllele": "TGGA", | 5809 "wildtypeAllele": "TGGA", |
| 5283 "mismatch": false | 5810 "mismatch": false, |
| 5811 "warnings": [] | |
| 5284 }, | 5812 }, |
| 5285 { | 5813 { |
| 5286 "gene": "RYR1", | 5814 "gene": "RYR1", |
| 5287 "chromosome": "chr19", | 5815 "chromosome": "chr19", |
| 5288 "position": 38499655, | 5816 "position": 38499655, |
| 5291 "alleles": [ | 5819 "alleles": [ |
| 5292 "c.7048G\u003eA" | 5820 "c.7048G\u003eA" |
| 5293 ], | 5821 ], |
| 5294 "phased": true, | 5822 "phased": true, |
| 5295 "wildtypeAllele": "G", | 5823 "wildtypeAllele": "G", |
| 5296 "mismatch": false | 5824 "mismatch": false, |
| 5825 "warnings": [] | |
| 5297 }, | 5826 }, |
| 5298 { | 5827 { |
| 5299 "gene": "RYR1", | 5828 "gene": "RYR1", |
| 5300 "chromosome": "chr19", | 5829 "chromosome": "chr19", |
| 5301 "position": 38499670, | 5830 "position": 38499670, |
| 5304 "alleles": [ | 5833 "alleles": [ |
| 5305 "c.7063C\u003eT" | 5834 "c.7063C\u003eT" |
| 5306 ], | 5835 ], |
| 5307 "phased": true, | 5836 "phased": true, |
| 5308 "wildtypeAllele": "C", | 5837 "wildtypeAllele": "C", |
| 5309 "mismatch": false | 5838 "mismatch": false, |
| 5839 "warnings": [] | |
| 5310 }, | 5840 }, |
| 5311 { | 5841 { |
| 5312 "gene": "RYR1", | 5842 "gene": "RYR1", |
| 5313 "chromosome": "chr19", | 5843 "chromosome": "chr19", |
| 5314 "position": 38499731, | 5844 "position": 38499731, |
| 5317 "alleles": [ | 5847 "alleles": [ |
| 5318 "c.7124G\u003eC" | 5848 "c.7124G\u003eC" |
| 5319 ], | 5849 ], |
| 5320 "phased": true, | 5850 "phased": true, |
| 5321 "wildtypeAllele": "G", | 5851 "wildtypeAllele": "G", |
| 5322 "mismatch": false | 5852 "mismatch": false, |
| 5853 "warnings": [] | |
| 5323 }, | 5854 }, |
| 5324 { | 5855 { |
| 5325 "gene": "RYR1", | 5856 "gene": "RYR1", |
| 5326 "chromosome": "chr19", | 5857 "chromosome": "chr19", |
| 5327 "position": 38499975, | 5858 "position": 38499975, |
| 5330 "alleles": [ | 5861 "alleles": [ |
| 5331 "c.7282G\u003eA" | 5862 "c.7282G\u003eA" |
| 5332 ], | 5863 ], |
| 5333 "phased": true, | 5864 "phased": true, |
| 5334 "wildtypeAllele": "G", | 5865 "wildtypeAllele": "G", |
| 5335 "mismatch": false | 5866 "mismatch": false, |
| 5867 "warnings": [] | |
| 5336 }, | 5868 }, |
| 5337 { | 5869 { |
| 5338 "gene": "RYR1", | 5870 "gene": "RYR1", |
| 5339 "chromosome": "chr19", | 5871 "chromosome": "chr19", |
| 5340 "position": 38499993, | 5872 "position": 38499993, |
| 5343 "alleles": [ | 5875 "alleles": [ |
| 5344 "c.7300G\u003eA" | 5876 "c.7300G\u003eA" |
| 5345 ], | 5877 ], |
| 5346 "phased": true, | 5878 "phased": true, |
| 5347 "wildtypeAllele": "G", | 5879 "wildtypeAllele": "G", |
| 5348 "mismatch": false | 5880 "mismatch": false, |
| 5881 "warnings": [] | |
| 5349 }, | 5882 }, |
| 5350 { | 5883 { |
| 5351 "gene": "RYR1", | 5884 "gene": "RYR1", |
| 5352 "chromosome": "chr19", | 5885 "chromosome": "chr19", |
| 5353 "position": 38499997, | 5886 "position": 38499997, |
| 5356 "alleles": [ | 5889 "alleles": [ |
| 5357 "c.7304G\u003eA" | 5890 "c.7304G\u003eA" |
| 5358 ], | 5891 ], |
| 5359 "phased": true, | 5892 "phased": true, |
| 5360 "wildtypeAllele": "G", | 5893 "wildtypeAllele": "G", |
| 5361 "mismatch": false | 5894 "mismatch": false, |
| 5895 "warnings": [] | |
| 5362 }, | 5896 }, |
| 5363 { | 5897 { |
| 5364 "gene": "RYR1", | 5898 "gene": "RYR1", |
| 5365 "chromosome": "chr19", | 5899 "chromosome": "chr19", |
| 5366 "position": 38500636, | 5900 "position": 38500636, |
| 5369 "alleles": [ | 5903 "alleles": [ |
| 5370 "c.7354C\u003eT" | 5904 "c.7354C\u003eT" |
| 5371 ], | 5905 ], |
| 5372 "phased": true, | 5906 "phased": true, |
| 5373 "wildtypeAllele": "C", | 5907 "wildtypeAllele": "C", |
| 5374 "mismatch": false | 5908 "mismatch": false, |
| 5909 "warnings": [] | |
| 5375 }, | 5910 }, |
| 5376 { | 5911 { |
| 5377 "gene": "RYR1", | 5912 "gene": "RYR1", |
| 5378 "chromosome": "chr19", | 5913 "chromosome": "chr19", |
| 5379 "position": 38500642, | 5914 "position": 38500642, |
| 5382 "alleles": [ | 5917 "alleles": [ |
| 5383 "c.7360C\u003eT" | 5918 "c.7360C\u003eT" |
| 5384 ], | 5919 ], |
| 5385 "phased": true, | 5920 "phased": true, |
| 5386 "wildtypeAllele": "C", | 5921 "wildtypeAllele": "C", |
| 5387 "mismatch": false | 5922 "mismatch": false, |
| 5923 "warnings": [] | |
| 5388 }, | 5924 }, |
| 5389 { | 5925 { |
| 5390 "gene": "RYR1", | 5926 "gene": "RYR1", |
| 5391 "chromosome": "chr19", | 5927 "chromosome": "chr19", |
| 5392 "position": 38500643, | 5928 "position": 38500643, |
| 5395 "alleles": [ | 5931 "alleles": [ |
| 5396 "c.7361G\u003eA" | 5932 "c.7361G\u003eA" |
| 5397 ], | 5933 ], |
| 5398 "phased": true, | 5934 "phased": true, |
| 5399 "wildtypeAllele": "G", | 5935 "wildtypeAllele": "G", |
| 5400 "mismatch": false | 5936 "mismatch": false, |
| 5937 "warnings": [] | |
| 5401 }, | 5938 }, |
| 5402 { | 5939 { |
| 5403 "gene": "RYR1", | 5940 "gene": "RYR1", |
| 5404 "chromosome": "chr19", | 5941 "chromosome": "chr19", |
| 5405 "position": 38500654, | 5942 "position": 38500654, |
| 5408 "alleles": [ | 5945 "alleles": [ |
| 5409 "c.7372C\u003eT" | 5946 "c.7372C\u003eT" |
| 5410 ], | 5947 ], |
| 5411 "phased": true, | 5948 "phased": true, |
| 5412 "wildtypeAllele": "C", | 5949 "wildtypeAllele": "C", |
| 5413 "mismatch": false | 5950 "mismatch": false, |
| 5951 "warnings": [] | |
| 5414 }, | 5952 }, |
| 5415 { | 5953 { |
| 5416 "gene": "RYR1", | 5954 "gene": "RYR1", |
| 5417 "chromosome": "chr19", | 5955 "chromosome": "chr19", |
| 5418 "position": 38500655, | 5956 "position": 38500655, |
| 5421 "alleles": [ | 5959 "alleles": [ |
| 5422 "c.7373G\u003eA" | 5960 "c.7373G\u003eA" |
| 5423 ], | 5961 ], |
| 5424 "phased": true, | 5962 "phased": true, |
| 5425 "wildtypeAllele": "G", | 5963 "wildtypeAllele": "G", |
| 5426 "mismatch": false | 5964 "mismatch": false, |
| 5965 "warnings": [] | |
| 5427 }, | 5966 }, |
| 5428 { | 5967 { |
| 5429 "gene": "RYR1", | 5968 "gene": "RYR1", |
| 5430 "chromosome": "chr19", | 5969 "chromosome": "chr19", |
| 5431 "position": 38500898, | 5970 "position": 38500898, |
| 5435 "c.7522C\u003eG", | 5974 "c.7522C\u003eG", |
| 5436 "c.7522C\u003eT" | 5975 "c.7522C\u003eT" |
| 5437 ], | 5976 ], |
| 5438 "phased": true, | 5977 "phased": true, |
| 5439 "wildtypeAllele": "C", | 5978 "wildtypeAllele": "C", |
| 5440 "mismatch": false | 5979 "mismatch": false, |
| 5980 "warnings": [] | |
| 5441 }, | 5981 }, |
| 5442 { | 5982 { |
| 5443 "gene": "RYR1", | 5983 "gene": "RYR1", |
| 5444 "chromosome": "chr19", | 5984 "chromosome": "chr19", |
| 5445 "position": 38500899, | 5985 "position": 38500899, |
| 5448 "alleles": [ | 5988 "alleles": [ |
| 5449 "c.7523G\u003eA" | 5989 "c.7523G\u003eA" |
| 5450 ], | 5990 ], |
| 5451 "phased": true, | 5991 "phased": true, |
| 5452 "wildtypeAllele": "G", | 5992 "wildtypeAllele": "G", |
| 5453 "mismatch": false | 5993 "mismatch": false, |
| 5994 "warnings": [] | |
| 5454 }, | 5995 }, |
| 5455 { | 5996 { |
| 5456 "gene": "RYR1", | 5997 "gene": "RYR1", |
| 5457 "chromosome": "chr19", | 5998 "chromosome": "chr19", |
| 5458 "position": 38512321, | 5999 "position": 38512321, |
| 5461 "alleles": [ | 6002 "alleles": [ |
| 5462 "c.9310G\u003eA" | 6003 "c.9310G\u003eA" |
| 5463 ], | 6004 ], |
| 5464 "phased": true, | 6005 "phased": true, |
| 5465 "wildtypeAllele": "G", | 6006 "wildtypeAllele": "G", |
| 5466 "mismatch": false | 6007 "mismatch": false, |
| 6008 "warnings": [] | |
| 5467 }, | 6009 }, |
| 5468 { | 6010 { |
| 5469 "gene": "RYR1", | 6011 "gene": "RYR1", |
| 5470 "chromosome": "chr19", | 6012 "chromosome": "chr19", |
| 5471 "position": 38543832, | 6013 "position": 38543832, |
| 5474 "alleles": [ | 6016 "alleles": [ |
| 5475 "c.11969G\u003eT" | 6017 "c.11969G\u003eT" |
| 5476 ], | 6018 ], |
| 5477 "phased": true, | 6019 "phased": true, |
| 5478 "wildtypeAllele": "G", | 6020 "wildtypeAllele": "G", |
| 5479 "mismatch": false | 6021 "mismatch": false, |
| 6022 "warnings": [] | |
| 5480 }, | 6023 }, |
| 5481 { | 6024 { |
| 5482 "gene": "RYR1", | 6025 "gene": "RYR1", |
| 5483 "chromosome": "chr19", | 6026 "chromosome": "chr19", |
| 5484 "position": 38580004, | 6027 "position": 38580004, |
| 5487 "alleles": [ | 6030 "alleles": [ |
| 5488 "c.14387A\u003eG" | 6031 "c.14387A\u003eG" |
| 5489 ], | 6032 ], |
| 5490 "phased": true, | 6033 "phased": true, |
| 5491 "wildtypeAllele": "A", | 6034 "wildtypeAllele": "A", |
| 5492 "mismatch": false | 6035 "mismatch": false, |
| 6036 "warnings": [] | |
| 5493 }, | 6037 }, |
| 5494 { | 6038 { |
| 5495 "gene": "RYR1", | 6039 "gene": "RYR1", |
| 5496 "chromosome": "chr19", | 6040 "chromosome": "chr19", |
| 5497 "position": 38580094, | 6041 "position": 38580094, |
| 5500 "alleles": [ | 6044 "alleles": [ |
| 5501 "c.14477C\u003eT" | 6045 "c.14477C\u003eT" |
| 5502 ], | 6046 ], |
| 5503 "phased": true, | 6047 "phased": true, |
| 5504 "wildtypeAllele": "C", | 6048 "wildtypeAllele": "C", |
| 5505 "mismatch": false | 6049 "mismatch": false, |
| 6050 "warnings": [] | |
| 5506 }, | 6051 }, |
| 5507 { | 6052 { |
| 5508 "gene": "RYR1", | 6053 "gene": "RYR1", |
| 5509 "chromosome": "chr19", | 6054 "chromosome": "chr19", |
| 5510 "position": 38580114, | 6055 "position": 38580114, |
| 5513 "alleles": [ | 6058 "alleles": [ |
| 5514 "c.14497C\u003eT" | 6059 "c.14497C\u003eT" |
| 5515 ], | 6060 ], |
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| 5583 "*41", | 6133 "*41", |
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| 6140 "guidelineId": "RxNorm:83367" | |
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| 6143 "name": "fluvastatin", | |
| 6144 "guidelineId": "RxNorm:41127" | |
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| 6148 "guidelineId": "RxNorm:6472" | |
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| 6152 "guidelineId": "RxNorm:861634" | |
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| 6156 "guidelineId": "RxNorm:42463" | |
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| 6160 "guidelineId": "RxNorm:301542" | |
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| 6183 "Normal Function" | |
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| 6187 "Normal Function" | |
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| 6208 "Normal Function" | |
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| 6212 "Normal Function" | |
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| 6230 "warnings": [] | |
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| 5649 { | 6232 { |
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| 5829 { | 6423 { |
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| 5836 "*6" | 6430 "*6" |
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| 5888 "*26" | 6486 "*26" |
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| 5894 { | 6493 { |
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| 5907 { | 6507 { |
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| 5921 { | 6522 { |
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| 5936 { | 6538 { |
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| 5943 "*10", | 6545 "*10", |
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| 5947 "wildtypeAllele": "A", | 6549 "wildtypeAllele": "A", |
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| 5950 { | 6553 { |
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| 5964 { | 6568 { |
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| 5977 { | 6582 { |
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| 5990 { | 6596 { |
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| 6010 "*41" | 6617 "*41" |
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| 6013 "wildtypeAllele": "G", | 6620 "wildtypeAllele": "G", |
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| 6016 { | 6624 { |
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| 6026 "wildtypeAllele": "A", | 6634 "wildtypeAllele": "A", |
| 6027 "mismatch": false | 6635 "mismatch": false, |
| 6636 "warnings": [] | |
| 6028 }, | 6637 }, |
| 6029 { | 6638 { |
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| 6036 "*39" | 6645 "*39" |
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| 6040 "mismatch": false | 6649 "mismatch": false, |
| 6650 "warnings": [] | |
| 6041 }, | 6651 }, |
| 6042 { | 6652 { |
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| 6049 "*47" | 6659 "*47" |
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| 6053 "mismatch": false | 6663 "mismatch": false, |
| 6664 "warnings": [] | |
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| 6055 { | 6666 { |
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| 6067 "mismatch": false | 6678 "mismatch": false, |
| 6679 "warnings": [] | |
| 6068 }, | 6680 }, |
| 6069 { | 6681 { |
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| 6081 "mismatch": false | 6693 "mismatch": false, |
| 6694 "warnings": [] | |
| 6082 } | 6695 } |
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| 6137 "function": "Normal Function", | 6750 "function": "Normal Function", |
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| 6139 }, | 6752 }, |
| 6140 "gene": "TPMT", | 6753 "gene": "TPMT", |
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| 6755 "Normal Metabolizer" | |
| 6756 ], | |
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| 6143 "lookupKey": "Normal Metabolizer", | 6758 "lookupKey": [ |
| 6759 "Normal Metabolizer" | |
| 6760 ], | |
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| 6147 "diplotypes": [ | 6764 "diplotypes": [ |
| 6148 { | 6765 { |
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| 6159 "reference": true | 6776 "reference": true |
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| 6161 "gene": "TPMT", | 6778 "gene": "TPMT", |
| 6162 "phenotype": "Normal Metabolizer", | 6779 "phenotypes": [ |
| 6780 "Normal Metabolizer" | |
| 6781 ], | |
| 6163 "variant": null, | 6782 "variant": null, |
| 6164 "lookupKey": "Normal Metabolizer", | 6783 "lookupKey": [ |
| 6784 "Normal Metabolizer" | |
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| 6165 "label": "*1/*1" | 6786 "label": "*1/*1" |
| 6166 } | 6787 } |
| 6167 ], | 6788 ], |
| 6168 "variants": [ | 6789 "variants": [ |
| 6169 { | 6790 { |
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| 6181 "wildtypeAllele": "T", | 6802 "wildtypeAllele": "T", |
| 6182 "mismatch": false | 6803 "mismatch": false, |
| 6804 "warnings": [] | |
| 6183 }, | 6805 }, |
| 6184 { | 6806 { |
| 6185 "gene": "TPMT", | 6807 "gene": "TPMT", |
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| 6191 "*20" | 6813 "*20" |
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| 6194 "wildtypeAllele": "T", | 6816 "wildtypeAllele": "T", |
| 6195 "mismatch": false | 6817 "mismatch": false, |
| 6818 "warnings": [] | |
| 6196 }, | 6819 }, |
| 6197 { | 6820 { |
| 6198 "gene": "TPMT", | 6821 "gene": "TPMT", |
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| 6204 "*7" | 6827 "*7" |
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| 6208 "mismatch": false | 6831 "mismatch": false, |
| 6832 "warnings": [] | |
| 6209 }, | 6833 }, |
| 6210 { | 6834 { |
| 6211 "gene": "TPMT", | 6835 "gene": "TPMT", |
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| 6217 "*40" | 6841 "*40" |
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| 6220 "wildtypeAllele": "C", | 6844 "wildtypeAllele": "C", |
| 6221 "mismatch": false | 6845 "mismatch": false, |
| 6846 "warnings": [] | |
| 6222 }, | 6847 }, |
| 6223 { | 6848 { |
| 6224 "gene": "TPMT", | 6849 "gene": "TPMT", |
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| 6230 "*37" | 6855 "*37" |
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| 6233 "wildtypeAllele": "A", | 6858 "wildtypeAllele": "A", |
| 6234 "mismatch": false | 6859 "mismatch": false, |
| 6860 "warnings": [] | |
| 6235 }, | 6861 }, |
| 6236 { | 6862 { |
| 6237 "gene": "TPMT", | 6863 "gene": "TPMT", |
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| 6243 "*8" | 6869 "*8" |
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| 6246 "wildtypeAllele": "C", | 6872 "wildtypeAllele": "C", |
| 6247 "mismatch": false | 6873 "mismatch": false, |
| 6874 "warnings": [] | |
| 6248 }, | 6875 }, |
| 6249 { | 6876 { |
| 6250 "gene": "TPMT", | 6877 "gene": "TPMT", |
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| 6256 "*25" | 6883 "*25" |
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| 6259 "wildtypeAllele": "A", | 6886 "wildtypeAllele": "A", |
| 6260 "mismatch": false | 6887 "mismatch": false, |
| 6888 "warnings": [] | |
| 6261 }, | 6889 }, |
| 6262 { | 6890 { |
| 6263 "gene": "TPMT", | 6891 "gene": "TPMT", |
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| 6269 "*4" | 6897 "*4" |
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| 6272 "wildtypeAllele": "C", | 6900 "wildtypeAllele": "C", |
| 6273 "mismatch": false | 6901 "mismatch": false, |
| 6902 "warnings": [] | |
| 6274 }, | 6903 }, |
| 6275 { | 6904 { |
| 6276 "gene": "TPMT", | 6905 "gene": "TPMT", |
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| 6282 "*26" | 6911 "*26" |
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| 6285 "wildtypeAllele": "A", | 6914 "wildtypeAllele": "A", |
| 6286 "mismatch": false | 6915 "mismatch": false, |
| 6916 "warnings": [] | |
| 6287 }, | 6917 }, |
| 6288 { | 6918 { |
| 6289 "gene": "TPMT", | 6919 "gene": "TPMT", |
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| 6295 "*31" | 6925 "*31" |
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| 6298 "wildtypeAllele": "A", | 6928 "wildtypeAllele": "A", |
| 6299 "mismatch": false | 6929 "mismatch": false, |
| 6930 "warnings": [] | |
| 6300 }, | 6931 }, |
| 6301 { | 6932 { |
| 6302 "gene": "TPMT", | 6933 "gene": "TPMT", |
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| 6308 "*36" | 6939 "*36" |
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| 6311 "wildtypeAllele": "C", | 6942 "wildtypeAllele": "C", |
| 6312 "mismatch": false | 6943 "mismatch": false, |
| 6944 "warnings": [] | |
| 6313 }, | 6945 }, |
| 6314 { | 6946 { |
| 6315 "gene": "TPMT", | 6947 "gene": "TPMT", |
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| 6321 "*6" | 6953 "*6" |
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| 6324 "wildtypeAllele": "T", | 6956 "wildtypeAllele": "T", |
| 6325 "mismatch": false | 6957 "mismatch": false, |
| 6958 "warnings": [] | |
| 6326 }, | 6959 }, |
| 6327 { | 6960 { |
| 6328 "gene": "TPMT", | 6961 "gene": "TPMT", |
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| 6334 "*24" | 6967 "*24" |
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| 6337 "wildtypeAllele": "C", | 6970 "wildtypeAllele": "C", |
| 6338 "mismatch": false | 6971 "mismatch": false, |
| 6972 "warnings": [] | |
| 6339 }, | 6973 }, |
| 6340 { | 6974 { |
| 6341 "gene": "TPMT", | 6975 "gene": "TPMT", |
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| 6347 "*38" | 6981 "*38" |
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| 6350 "wildtypeAllele": "A", | 6984 "wildtypeAllele": "A", |
| 6351 "mismatch": false | 6985 "mismatch": false, |
| 6986 "warnings": [] | |
| 6352 }, | 6987 }, |
| 6353 { | 6988 { |
| 6354 "gene": "TPMT", | 6989 "gene": "TPMT", |
| 6355 "chromosome": "chr6", | 6990 "chromosome": "chr6", |
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| 6359 "alleles": [ | 6994 "alleles": [ |
| 6360 "*23" | 6995 "*23" |
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| 6363 "wildtypeAllele": "G", | 6998 "wildtypeAllele": "G", |
| 6364 "mismatch": false | 6999 "mismatch": false, |
| 7000 "warnings": [] | |
| 6365 }, | 7001 }, |
| 6366 { | 7002 { |
| 6367 "gene": "TPMT", | 7003 "gene": "TPMT", |
| 6368 "chromosome": "chr6", | 7004 "chromosome": "chr6", |
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| 6373 "*44" | 7009 "*44" |
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| 6376 "wildtypeAllele": "T", | 7012 "wildtypeAllele": "T", |
| 6377 "mismatch": false | 7013 "mismatch": false, |
| 7014 "warnings": [] | |
| 6378 }, | 7015 }, |
| 6379 { | 7016 { |
| 6380 "gene": "TPMT", | 7017 "gene": "TPMT", |
| 6381 "chromosome": "chr6", | 7018 "chromosome": "chr6", |
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| 6386 "*15" | 7023 "*15" |
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| 6388 "phased": true, | 7025 "phased": true, |
| 6389 "wildtypeAllele": "C", | 7026 "wildtypeAllele": "C", |
| 6390 "mismatch": false | 7027 "mismatch": false, |
| 7028 "warnings": [] | |
| 6391 }, | 7029 }, |
| 6392 { | 7030 { |
| 6393 "gene": "TPMT", | 7031 "gene": "TPMT", |
| 6394 "chromosome": "chr6", | 7032 "chromosome": "chr6", |
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| 6399 "*16", | 7037 "*16", |
| 6400 "*22" | 7038 "*22" |
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| 6402 "phased": true, | 7040 "phased": true, |
| 6403 "wildtypeAllele": "C", | 7041 "wildtypeAllele": "C", |
| 6404 "mismatch": false | 7042 "mismatch": false, |
| 7043 "warnings": [] | |
| 6405 }, | 7044 }, |
| 6406 { | 7045 { |
| 6407 "gene": "TPMT", | 7046 "gene": "TPMT", |
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| 6412 "alleles": [ | 7051 "alleles": [ |
| 6413 "*33" | 7052 "*33" |
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| 6416 "wildtypeAllele": "G", | 7055 "wildtypeAllele": "G", |
| 6417 "mismatch": false | 7056 "mismatch": false, |
| 7057 "warnings": [] | |
| 6418 }, | 7058 }, |
| 6419 { | 7059 { |
| 6420 "gene": "TPMT", | 7060 "gene": "TPMT", |
| 6421 "chromosome": "chr6", | 7061 "chromosome": "chr6", |
| 6422 "position": 18138997, | 7062 "position": 18138997, |
| 6426 "*3A", | 7066 "*3A", |
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| 6429 "phased": true, | 7069 "phased": true, |
| 6430 "wildtypeAllele": "C", | 7070 "wildtypeAllele": "C", |
| 6431 "mismatch": false | 7071 "mismatch": false, |
| 7072 "warnings": [] | |
| 6432 }, | 7073 }, |
| 6433 { | 7074 { |
| 6434 "gene": "TPMT", | 7075 "gene": "TPMT", |
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| 6440 "*10" | 7081 "*10" |
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| 6443 "wildtypeAllele": "C", | 7084 "wildtypeAllele": "C", |
| 6444 "mismatch": false | 7085 "mismatch": false, |
| 7086 "warnings": [] | |
| 6445 }, | 7087 }, |
| 6446 { | 7088 { |
| 6447 "gene": "TPMT", | 7089 "gene": "TPMT", |
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| 6453 "*11" | 7095 "*11" |
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| 6456 "wildtypeAllele": "C", | 7098 "wildtypeAllele": "C", |
| 6457 "mismatch": false | 7099 "mismatch": false, |
| 7100 "warnings": [] | |
| 6458 }, | 7101 }, |
| 6459 { | 7102 { |
| 6460 "gene": "TPMT", | 7103 "gene": "TPMT", |
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| 6465 "alleles": [ | 7108 "alleles": [ |
| 6466 "*12" | 7109 "*12" |
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| 6468 "phased": true, | 7111 "phased": true, |
| 6469 "wildtypeAllele": "G", | 7112 "wildtypeAllele": "G", |
| 6470 "mismatch": false | 7113 "mismatch": false, |
| 7114 "warnings": [] | |
| 6471 }, | 7115 }, |
| 6472 { | 7116 { |
| 6473 "gene": "TPMT", | 7117 "gene": "TPMT", |
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| 6479 "*19" | 7123 "*19" |
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| 6482 "wildtypeAllele": "T", | 7126 "wildtypeAllele": "T", |
| 6483 "mismatch": false | 7127 "mismatch": false, |
| 7128 "warnings": [] | |
| 6484 }, | 7129 }, |
| 6485 { | 7130 { |
| 6486 "gene": "TPMT", | 7131 "gene": "TPMT", |
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| 6492 "*9" | 7137 "*9" |
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| 6495 "wildtypeAllele": "T", | 7140 "wildtypeAllele": "T", |
| 6496 "mismatch": false | 7141 "mismatch": false, |
| 7142 "warnings": [] | |
| 6497 }, | 7143 }, |
| 6498 { | 7144 { |
| 6499 "gene": "TPMT", | 7145 "gene": "TPMT", |
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| 6505 "*28" | 7151 "*28" |
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| 6508 "wildtypeAllele": "C", | 7154 "wildtypeAllele": "C", |
| 6509 "mismatch": false | 7155 "mismatch": false, |
| 7156 "warnings": [] | |
| 6510 }, | 7157 }, |
| 6511 { | 7158 { |
| 6512 "gene": "TPMT", | 7159 "gene": "TPMT", |
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| 6518 "*32" | 7165 "*32" |
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| 6521 "wildtypeAllele": "C", | 7168 "wildtypeAllele": "C", |
| 6522 "mismatch": false | 7169 "mismatch": false, |
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| 6523 }, | 7171 }, |
| 6524 { | 7172 { |
| 6525 "gene": "TPMT", | 7173 "gene": "TPMT", |
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| 6530 "alleles": [ | 7178 "alleles": [ |
| 6531 "*27" | 7179 "*27" |
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| 6534 "wildtypeAllele": "A", | 7182 "wildtypeAllele": "A", |
| 6535 "mismatch": false | 7183 "mismatch": false, |
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| 6536 }, | 7185 }, |
| 6537 { | 7186 { |
| 6538 "gene": "TPMT", | 7187 "gene": "TPMT", |
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| 6540 "position": 18143700, | 7189 "position": 18143700, |
| 6543 "alleles": [ | 7192 "alleles": [ |
| 6544 "*43" | 7193 "*43" |
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| 6546 "phased": true, | 7195 "phased": true, |
| 6547 "wildtypeAllele": "C", | 7196 "wildtypeAllele": "C", |
| 6548 "mismatch": false | 7197 "mismatch": false, |
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| 6549 }, | 7199 }, |
| 6550 { | 7200 { |
| 6551 "gene": "TPMT", | 7201 "gene": "TPMT", |
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| 6557 "*34" | 7207 "*34" |
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| 6559 "phased": true, | 7209 "phased": true, |
| 6560 "wildtypeAllele": "G", | 7210 "wildtypeAllele": "G", |
| 6561 "mismatch": false | 7211 "mismatch": false, |
| 7212 "warnings": [] | |
| 6562 }, | 7213 }, |
| 6563 { | 7214 { |
| 6564 "gene": "TPMT", | 7215 "gene": "TPMT", |
| 6565 "chromosome": "chr6", | 7216 "chromosome": "chr6", |
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| 6570 "*2" | 7221 "*2" |
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| 6572 "phased": true, | 7223 "phased": true, |
| 6573 "wildtypeAllele": "C", | 7224 "wildtypeAllele": "C", |
| 6574 "mismatch": false | 7225 "mismatch": false, |
| 7226 "warnings": [] | |
| 6575 }, | 7227 }, |
| 6576 { | 7228 { |
| 6577 "gene": "TPMT", | 7229 "gene": "TPMT", |
| 6578 "chromosome": "chr6", | 7230 "chromosome": "chr6", |
| 6579 "position": 18143728, | 7231 "position": 18143728, |
| 6582 "alleles": [ | 7234 "alleles": [ |
| 6583 "*43" | 7235 "*43" |
| 6584 ], | 7236 ], |
| 6585 "phased": true, | 7237 "phased": true, |
| 6586 "wildtypeAllele": "C", | 7238 "wildtypeAllele": "C", |
| 6587 "mismatch": false | 7239 "mismatch": false, |
| 7240 "warnings": [] | |
| 6588 }, | 7241 }, |
| 6589 { | 7242 { |
| 6590 "gene": "TPMT", | 7243 "gene": "TPMT", |
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| 6592 "position": 18147838, | 7245 "position": 18147838, |
| 6595 "alleles": [ | 7248 "alleles": [ |
| 6596 "*39" | 7249 "*39" |
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| 6599 "wildtypeAllele": "G", | 7252 "wildtypeAllele": "G", |
| 6600 "mismatch": false | 7253 "mismatch": false, |
| 7254 "warnings": [] | |
| 6601 }, | 7255 }, |
| 6602 { | 7256 { |
| 6603 "gene": "TPMT", | 7257 "gene": "TPMT", |
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| 6609 "*18" | 7263 "*18" |
| 6610 ], | 7264 ], |
| 6611 "phased": true, | 7265 "phased": true, |
| 6612 "wildtypeAllele": "C", | 7266 "wildtypeAllele": "C", |
| 6613 "mismatch": false | 7267 "mismatch": false, |
| 7268 "warnings": [] | |
| 6614 }, | 7269 }, |
| 6615 { | 7270 { |
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| 6621 "alleles": [ | 7276 "alleles": [ |
| 6622 "*21" | 7277 "*21" |
| 6623 ], | 7278 ], |
| 6624 "phased": true, | 7279 "phased": true, |
| 6625 "wildtypeAllele": "G", | 7280 "wildtypeAllele": "G", |
| 6626 "mismatch": false | 7281 "mismatch": false, |
| 7282 "warnings": [] | |
| 6627 }, | 7283 }, |
| 6628 { | 7284 { |
| 6629 "gene": "TPMT", | 7285 "gene": "TPMT", |
| 6630 "chromosome": "chr6", | 7286 "chromosome": "chr6", |
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| 6634 "alleles": [ | 7290 "alleles": [ |
| 6635 "*35" | 7291 "*35" |
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| 6637 "phased": true, | 7293 "phased": true, |
| 6638 "wildtypeAllele": "A", | 7294 "wildtypeAllele": "A", |
| 6639 "mismatch": false | 7295 "mismatch": false, |
| 7296 "warnings": [] | |
| 6640 }, | 7297 }, |
| 6641 { | 7298 { |
| 6642 "gene": "TPMT", | 7299 "gene": "TPMT", |
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| 6648 "*5" | 7305 "*5" |
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| 6650 "phased": true, | 7307 "phased": true, |
| 6651 "wildtypeAllele": "A", | 7308 "wildtypeAllele": "A", |
| 6652 "mismatch": false | 7309 "mismatch": false, |
| 7310 "warnings": [] | |
| 6653 }, | 7311 }, |
| 6654 { | 7312 { |
| 6655 "gene": "TPMT", | 7313 "gene": "TPMT", |
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| 6660 "alleles": [ | 7318 "alleles": [ |
| 6661 "*17" | 7319 "*17" |
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| 6663 "phased": true, | 7321 "phased": true, |
| 6664 "wildtypeAllele": "G", | 7322 "wildtypeAllele": "G", |
| 6665 "mismatch": false | 7323 "mismatch": false, |
| 7324 "warnings": [] | |
| 6666 }, | 7325 }, |
| 6667 { | 7326 { |
| 6668 "gene": "TPMT", | 7327 "gene": "TPMT", |
| 6669 "chromosome": "chr6", | 7328 "chromosome": "chr6", |
| 6670 "position": 18149022, | 7329 "position": 18149022, |
| 6673 "alleles": [ | 7332 "alleles": [ |
| 6674 "*30" | 7333 "*30" |
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| 6676 "phased": true, | 7335 "phased": true, |
| 6677 "wildtypeAllele": "C", | 7336 "wildtypeAllele": "C", |
| 6678 "mismatch": false | 7337 "mismatch": false, |
| 7338 "warnings": [] | |
| 6679 }, | 7339 }, |
| 6680 { | 7340 { |
| 6681 "gene": "TPMT", | 7341 "gene": "TPMT", |
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| 6687 "*42" | 7347 "*42" |
| 6688 ], | 7348 ], |
| 6689 "phased": true, | 7349 "phased": true, |
| 6690 "wildtypeAllele": "C", | 7350 "wildtypeAllele": "C", |
| 6691 "mismatch": false | 7351 "mismatch": false, |
| 7352 "warnings": [] | |
| 6692 }, | 7353 }, |
| 6693 { | 7354 { |
| 6694 "gene": "TPMT", | 7355 "gene": "TPMT", |
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| 6699 "alleles": [ | 7360 "alleles": [ |
| 6700 "*13" | 7361 "*13" |
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| 6702 "phased": true, | 7363 "phased": true, |
| 6703 "wildtypeAllele": "T", | 7364 "wildtypeAllele": "T", |
| 6704 "mismatch": false | 7365 "mismatch": false, |
| 7366 "warnings": [] | |
| 6705 }, | 7367 }, |
| 6706 { | 7368 { |
| 6707 "gene": "TPMT", | 7369 "gene": "TPMT", |
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| 6709 "position": 18149126, | 7371 "position": 18149126, |
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| 6713 "*29" | 7375 "*29" |
| 6714 ], | 7376 ], |
| 6715 "phased": true, | 7377 "phased": true, |
| 6716 "wildtypeAllele": "A", | 7378 "wildtypeAllele": "A", |
| 6717 "mismatch": false | 7379 "mismatch": false, |
| 7380 "warnings": [] | |
| 6718 }, | 7381 }, |
| 6719 { | 7382 { |
| 6720 "gene": "TPMT", | 7383 "gene": "TPMT", |
| 6721 "chromosome": "chr6", | 7384 "chromosome": "chr6", |
| 6722 "position": 18149127, | 7385 "position": 18149127, |
| 6725 "alleles": [ | 7388 "alleles": [ |
| 6726 "*14" | 7389 "*14" |
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| 6728 "phased": true, | 7391 "phased": true, |
| 6729 "wildtypeAllele": "T", | 7392 "wildtypeAllele": "T", |
| 6730 "mismatch": false | 7393 "mismatch": false, |
| 7394 "warnings": [] | |
| 6731 } | 7395 } |
| 6732 ], | 7396 ], |
| 6733 "variantsOfInterest": [], | 7397 "variantsOfInterest": [], |
| 6734 "highlightedVariants": [] | 7398 "highlightedVariants": [] |
| 6735 }, | 7399 }, |
| 6775 "name": "*1", | 7439 "name": "*1", |
| 6776 "function": "Normal function", | 7440 "function": "Normal function", |
| 6777 "reference": true | 7441 "reference": true |
| 6778 }, | 7442 }, |
| 6779 "gene": "UGT1A1", | 7443 "gene": "UGT1A1", |
| 6780 "phenotype": "Normal Metabolizer", | 7444 "phenotypes": [ |
| 7445 "Normal Metabolizer" | |
| 7446 ], | |
| 6781 "variant": null, | 7447 "variant": null, |
| 6782 "lookupKey": "Normal Metabolizer", | 7448 "lookupKey": [ |
| 7449 "Normal Metabolizer" | |
| 7450 ], | |
| 6783 "label": "*1/*1" | 7451 "label": "*1/*1" |
| 6784 } | 7452 } |
| 6785 ], | 7453 ], |
| 6786 "diplotypes": [ | 7454 "diplotypes": [ |
| 6787 { | 7455 { |
| 6796 "name": "*1", | 7464 "name": "*1", |
| 6797 "function": "Normal function", | 7465 "function": "Normal function", |
| 6798 "reference": true | 7466 "reference": true |
| 6799 }, | 7467 }, |
| 6800 "gene": "UGT1A1", | 7468 "gene": "UGT1A1", |
| 6801 "phenotype": "Normal Metabolizer", | 7469 "phenotypes": [ |
| 7470 "Normal Metabolizer" | |
| 7471 ], | |
| 6802 "variant": null, | 7472 "variant": null, |
| 6803 "lookupKey": "Normal Metabolizer", | 7473 "lookupKey": [ |
| 7474 "Normal Metabolizer" | |
| 7475 ], | |
| 6804 "label": "*1/*1" | 7476 "label": "*1/*1" |
| 6805 } | 7477 } |
| 6806 ], | 7478 ], |
| 6807 "variants": [ | 7479 "variants": [ |
| 6808 { | 7480 { |
| 6816 "*80+*28", | 7488 "*80+*28", |
| 6817 "*80+*37" | 7489 "*80+*37" |
| 6818 ], | 7490 ], |
| 6819 "phased": true, | 7491 "phased": true, |
| 6820 "wildtypeAllele": "C", | 7492 "wildtypeAllele": "C", |
| 6821 "mismatch": false | 7493 "mismatch": false, |
| 7494 "warnings": [] | |
| 6822 }, | 7495 }, |
| 6823 { | 7496 { |
| 6824 "gene": "UGT1A1", | 7497 "gene": "UGT1A1", |
| 6825 "chromosome": "chr2", | 7498 "chromosome": "chr2", |
| 6826 "position": 233760233, | 7499 "position": 233760233, |
| 6833 "*80+*28", | 7506 "*80+*28", |
| 6834 "*80+*37" | 7507 "*80+*37" |
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| 6836 "phased": true, | 7509 "phased": true, |
| 6837 "wildtypeAllele": "CAT", | 7510 "wildtypeAllele": "CAT", |
| 6838 "mismatch": false | 7511 "mismatch": false, |
| 7512 "warnings": [] | |
| 6839 }, | 7513 }, |
| 6840 { | 7514 { |
| 6841 "gene": "UGT1A1", | 7515 "gene": "UGT1A1", |
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| 6843 "position": 233760498, | 7517 "position": 233760498, |
| 6846 "alleles": [ | 7520 "alleles": [ |
| 6847 "*6" | 7521 "*6" |
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| 6849 "phased": true, | 7523 "phased": true, |
| 6850 "wildtypeAllele": "G", | 7524 "wildtypeAllele": "G", |
| 6851 "mismatch": false | 7525 "mismatch": false, |
| 7526 "warnings": [] | |
| 6852 }, | 7527 }, |
| 6853 { | 7528 { |
| 6854 "gene": "UGT1A1", | 7529 "gene": "UGT1A1", |
| 6855 "chromosome": "chr2", | 7530 "chromosome": "chr2", |
| 6856 "position": 233760973, | 7531 "position": 233760973, |
| 6859 "alleles": [ | 7534 "alleles": [ |
| 6860 "*27" | 7535 "*27" |
| 6861 ], | 7536 ], |
| 6862 "phased": true, | 7537 "phased": true, |
| 6863 "wildtypeAllele": "C", | 7538 "wildtypeAllele": "C", |
| 6864 "mismatch": false | 7539 "mismatch": false, |
| 7540 "warnings": [] | |
| 6865 } | 7541 } |
| 6866 ], | 7542 ], |
| 6867 "variantsOfInterest": [], | 7543 "variantsOfInterest": [], |
| 6868 "highlightedVariants": [] | 7544 "highlightedVariants": [] |
| 6869 }, | 7545 }, |
| 6924 "name": "rs9923231 reference (C)", | 7600 "name": "rs9923231 reference (C)", |
| 6925 "function": null, | 7601 "function": null, |
| 6926 "reference": true | 7602 "reference": true |
| 6927 }, | 7603 }, |
| 6928 "gene": "VKORC1", | 7604 "gene": "VKORC1", |
| 6929 "phenotype": null, | 7605 "phenotypes": [], |
| 6930 "variant": null, | 7606 "variant": null, |
| 6931 "lookupKey": null, | 7607 "lookupKey": [], |
| 6932 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7608 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
| 6933 } | 7609 } |
| 6934 ], | 7610 ], |
| 6935 "diplotypes": [ | 7611 "diplotypes": [ |
| 6936 { | 7612 { |
| 6945 "name": "rs9923231 reference (C)", | 7621 "name": "rs9923231 reference (C)", |
| 6946 "function": null, | 7622 "function": null, |
| 6947 "reference": true | 7623 "reference": true |
| 6948 }, | 7624 }, |
| 6949 "gene": "VKORC1", | 7625 "gene": "VKORC1", |
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| 6952 "lookupKey": null, | 7628 "lookupKey": [], |
| 6953 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7629 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
| 6954 } | 7630 } |
| 6955 ], | 7631 ], |
| 6956 "variants": [ | 7632 "variants": [ |
| 6957 { | 7633 { |
| 6963 "alleles": [ | 7639 "alleles": [ |
| 6964 "rs9923231 variant (T)" | 7640 "rs9923231 variant (T)" |
| 6965 ], | 7641 ], |
| 6966 "phased": true, | 7642 "phased": true, |
| 6967 "wildtypeAllele": "C", | 7643 "wildtypeAllele": "C", |
| 6968 "mismatch": false | 7644 "mismatch": false, |
| 7645 "warnings": [] | |
| 6969 } | 7646 } |
| 6970 ], | 7647 ], |
| 6971 "variantsOfInterest": [], | 7648 "variantsOfInterest": [], |
| 6972 "highlightedVariants": [] | 7649 "highlightedVariants": [] |
| 6973 } | 7650 } |