Mercurial > repos > bgruening > pharmcat
comparison test-data/test_4.json @ 1:8005ce1418ac 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 20:26:42 +0000 |
| parents | 28aa54c800c0 |
| children |
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| 0:28aa54c800c0 | 1:8005ce1418ac |
|---|---|
| 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 "matcherDiplotypes": [ | |
| 14 { | |
| 15 "allele1": { | |
| 16 "gene": "ABCG2", | |
| 17 "name": "Unknown", | |
| 18 "function": "Unassigned function", | |
| 19 "reference": false | |
| 20 }, | |
| 21 "allele2": { | |
| 22 "gene": "ABCG2", | |
| 23 "name": "Unknown", | |
| 24 "function": "Unassigned function", | |
| 25 "reference": false | |
| 26 }, | |
| 27 "gene": "ABCG2", | |
| 28 "phenotypes": [ | |
| 29 "No Result" | |
| 30 ], | |
| 31 "variant": null, | |
| 32 "lookupKey": [ | |
| 33 "No Result" | |
| 34 ], | |
| 35 "label": "Unknown/Unknown" | |
| 36 } | |
| 37 ], | |
| 38 "diplotypes": [ | |
| 39 { | |
| 40 "allele1": { | |
| 41 "gene": "ABCG2", | |
| 42 "name": "Unknown", | |
| 43 "function": "Unassigned function", | |
| 44 "reference": false | |
| 45 }, | |
| 46 "allele2": { | |
| 47 "gene": "ABCG2", | |
| 48 "name": "Unknown", | |
| 49 "function": "Unassigned function", | |
| 50 "reference": false | |
| 51 }, | |
| 52 "gene": "ABCG2", | |
| 53 "phenotypes": [ | |
| 54 "No Result" | |
| 55 ], | |
| 56 "variant": null, | |
| 57 "lookupKey": [ | |
| 58 "No Result" | |
| 59 ], | |
| 60 "label": "Unknown/Unknown" | |
| 61 } | |
| 62 ], | |
| 63 "variants": [ | |
| 64 { | |
| 65 "gene": "ABCG2", | |
| 66 "chromosome": "chr4", | |
| 67 "position": 88131171, | |
| 68 "dbSnpId": "rs2231142", | |
| 69 "call": null, | |
| 70 "alleles": [ | |
| 71 "rs2231142 variant (T)" | |
| 72 ], | |
| 73 "phased": false, | |
| 74 "wildtypeAllele": "G", | |
| 75 "mismatch": false, | |
| 76 "warnings": [] | |
| 77 } | |
| 78 ], | |
| 79 "variantsOfInterest": [], | |
| 80 "highlightedVariants": [] | |
| 81 }, | |
| 2 { | 82 { |
| 3 "geneSymbol": "CACNA1S", | 83 "geneSymbol": "CACNA1S", |
| 4 "chr": "chr1", | 84 "chr": "chr1", |
| 5 "phased": true, | 85 "phased": true, |
| 6 "callSource": "MATCHER", | 86 "callSource": "MATCHER", |
| 20 "name": "Reference", | 100 "name": "Reference", |
| 21 "function": "Normal Function", | 101 "function": "Normal Function", |
| 22 "reference": true | 102 "reference": true |
| 23 }, | 103 }, |
| 24 "gene": "CACNA1S", | 104 "gene": "CACNA1S", |
| 25 "phenotype": "Uncertain Susceptibility", | 105 "phenotypes": [ |
| 106 "Uncertain Susceptibility" | |
| 107 ], | |
| 26 "variant": null, | 108 "variant": null, |
| 27 "lookupKey": "Uncertain Susceptibility", | 109 "lookupKey": [ |
| 110 "Uncertain Susceptibility" | |
| 111 ], | |
| 28 "label": "Reference/Reference" | 112 "label": "Reference/Reference" |
| 29 } | 113 } |
| 30 ], | 114 ], |
| 31 "diplotypes": [ | 115 "diplotypes": [ |
| 32 { | 116 { |
| 41 "name": "Reference", | 125 "name": "Reference", |
| 42 "function": "Normal Function", | 126 "function": "Normal Function", |
| 43 "reference": true | 127 "reference": true |
| 44 }, | 128 }, |
| 45 "gene": "CACNA1S", | 129 "gene": "CACNA1S", |
| 46 "phenotype": "Uncertain Susceptibility", | 130 "phenotypes": [ |
| 131 "Uncertain Susceptibility" | |
| 132 ], | |
| 47 "variant": null, | 133 "variant": null, |
| 48 "lookupKey": "Uncertain Susceptibility", | 134 "lookupKey": [ |
| 135 "Uncertain Susceptibility" | |
| 136 ], | |
| 49 "label": "Reference/Reference" | 137 "label": "Reference/Reference" |
| 50 } | 138 } |
| 51 ], | 139 ], |
| 52 "variants": [ | 140 "variants": [ |
| 53 { | 141 { |
| 59 "alleles": [ | 147 "alleles": [ |
| 60 "c.3257G\u003eA" | 148 "c.3257G\u003eA" |
| 61 ], | 149 ], |
| 62 "phased": false, | 150 "phased": false, |
| 63 "wildtypeAllele": "C", | 151 "wildtypeAllele": "C", |
| 64 "mismatch": false | 152 "mismatch": false, |
| 153 "warnings": [] | |
| 65 }, | 154 }, |
| 66 { | 155 { |
| 67 "gene": "CACNA1S", | 156 "gene": "CACNA1S", |
| 68 "chromosome": "chr1", | 157 "chromosome": "chr1", |
| 69 "position": 201091993, | 158 "position": 201091993, |
| 72 "alleles": [ | 161 "alleles": [ |
| 73 "c.520C\u003eT" | 162 "c.520C\u003eT" |
| 74 ], | 163 ], |
| 75 "phased": false, | 164 "phased": false, |
| 76 "wildtypeAllele": "G", | 165 "wildtypeAllele": "G", |
| 77 "mismatch": false | 166 "mismatch": false, |
| 167 "warnings": [] | |
| 78 } | 168 } |
| 79 ], | 169 ], |
| 80 "variantsOfInterest": [], | 170 "variantsOfInterest": [], |
| 81 "highlightedVariants": [] | 171 "highlightedVariants": [] |
| 82 }, | 172 }, |
| 101 "name": "ivacaftor non-responsive CFTR sequence", | 191 "name": "ivacaftor non-responsive CFTR sequence", |
| 102 "function": "ivacaftor non-responsive", | 192 "function": "ivacaftor non-responsive", |
| 103 "reference": true | 193 "reference": true |
| 104 }, | 194 }, |
| 105 "gene": "CFTR", | 195 "gene": "CFTR", |
| 106 "phenotype": "ivacaftor non-responsive in CF patients", | 196 "phenotypes": [ |
| 197 "ivacaftor non-responsive in CF patients" | |
| 198 ], | |
| 107 "variant": null, | 199 "variant": null, |
| 108 "lookupKey": "ivacaftor non-responsive in CF patients", | 200 "lookupKey": [ |
| 201 "ivacaftor non-responsive in CF patients" | |
| 202 ], | |
| 109 "label": "No CPIC variants found" | 203 "label": "No CPIC variants found" |
| 110 } | 204 } |
| 111 ], | 205 ], |
| 112 "diplotypes": [ | 206 "diplotypes": [ |
| 113 { | 207 { |
| 122 "name": "ivacaftor non-responsive CFTR sequence", | 216 "name": "ivacaftor non-responsive CFTR sequence", |
| 123 "function": "ivacaftor non-responsive", | 217 "function": "ivacaftor non-responsive", |
| 124 "reference": true | 218 "reference": true |
| 125 }, | 219 }, |
| 126 "gene": "CFTR", | 220 "gene": "CFTR", |
| 127 "phenotype": "ivacaftor non-responsive in CF patients", | 221 "phenotypes": [ |
| 222 "ivacaftor non-responsive in CF patients" | |
| 223 ], | |
| 128 "variant": null, | 224 "variant": null, |
| 129 "lookupKey": "ivacaftor non-responsive in CF patients", | 225 "lookupKey": [ |
| 226 "ivacaftor non-responsive in CF patients" | |
| 227 ], | |
| 130 "label": "No CPIC variants found" | 228 "label": "No CPIC variants found" |
| 131 } | 229 } |
| 132 ], | 230 ], |
| 133 "variants": [ | 231 "variants": [ |
| 134 { | 232 { |
| 140 "alleles": [ | 238 "alleles": [ |
| 141 "E56K" | 239 "E56K" |
| 142 ], | 240 ], |
| 143 "phased": false, | 241 "phased": false, |
| 144 "wildtypeAllele": "G", | 242 "wildtypeAllele": "G", |
| 145 "mismatch": false | 243 "mismatch": false, |
| 244 "warnings": [] | |
| 146 }, | 245 }, |
| 147 { | 246 { |
| 148 "gene": "CFTR", | 247 "gene": "CFTR", |
| 149 "chromosome": "chr7", | 248 "chromosome": "chr7", |
| 150 "position": 117509069, | 249 "position": 117509069, |
| 153 "alleles": [ | 252 "alleles": [ |
| 154 "P67L" | 253 "P67L" |
| 155 ], | 254 ], |
| 156 "phased": false, | 255 "phased": false, |
| 157 "wildtypeAllele": "C", | 256 "wildtypeAllele": "C", |
| 158 "mismatch": false | 257 "mismatch": false, |
| 258 "warnings": [] | |
| 159 }, | 259 }, |
| 160 { | 260 { |
| 161 "gene": "CFTR", | 261 "gene": "CFTR", |
| 162 "chromosome": "chr7", | 262 "chromosome": "chr7", |
| 163 "position": 117509089, | 263 "position": 117509089, |
| 166 "alleles": [ | 266 "alleles": [ |
| 167 "R74W" | 267 "R74W" |
| 168 ], | 268 ], |
| 169 "phased": false, | 269 "phased": false, |
| 170 "wildtypeAllele": "C", | 270 "wildtypeAllele": "C", |
| 171 "mismatch": false | 271 "mismatch": false, |
| 272 "warnings": [] | |
| 172 }, | 273 }, |
| 173 { | 274 { |
| 174 "gene": "CFTR", | 275 "gene": "CFTR", |
| 175 "chromosome": "chr7", | 276 "chromosome": "chr7", |
| 176 "position": 117530953, | 277 "position": 117530953, |
| 179 "alleles": [ | 280 "alleles": [ |
| 180 "D110H" | 281 "D110H" |
| 181 ], | 282 ], |
| 182 "phased": false, | 283 "phased": false, |
| 183 "wildtypeAllele": "G", | 284 "wildtypeAllele": "G", |
| 184 "mismatch": false | 285 "mismatch": false, |
| 286 "warnings": [] | |
| 185 }, | 287 }, |
| 186 { | 288 { |
| 187 "gene": "CFTR", | 289 "gene": "CFTR", |
| 188 "chromosome": "chr7", | 290 "chromosome": "chr7", |
| 189 "position": 117530955, | 291 "position": 117530955, |
| 192 "alleles": [ | 294 "alleles": [ |
| 193 "D110E" | 295 "D110E" |
| 194 ], | 296 ], |
| 195 "phased": false, | 297 "phased": false, |
| 196 "wildtypeAllele": "C", | 298 "wildtypeAllele": "C", |
| 197 "mismatch": false | 299 "mismatch": false, |
| 300 "warnings": [] | |
| 198 }, | 301 }, |
| 199 { | 302 { |
| 200 "gene": "CFTR", | 303 "gene": "CFTR", |
| 201 "chromosome": "chr7", | 304 "chromosome": "chr7", |
| 202 "position": 117530974, | 305 "position": 117530974, |
| 205 "alleles": [ | 308 "alleles": [ |
| 206 "R117C" | 309 "R117C" |
| 207 ], | 310 ], |
| 208 "phased": false, | 311 "phased": false, |
| 209 "wildtypeAllele": "C", | 312 "wildtypeAllele": "C", |
| 210 "mismatch": false | 313 "mismatch": false, |
| 314 "warnings": [] | |
| 211 }, | 315 }, |
| 212 { | 316 { |
| 213 "gene": "CFTR", | 317 "gene": "CFTR", |
| 214 "chromosome": "chr7", | 318 "chromosome": "chr7", |
| 215 "position": 117530975, | 319 "position": 117530975, |
| 218 "alleles": [ | 322 "alleles": [ |
| 219 "R117H" | 323 "R117H" |
| 220 ], | 324 ], |
| 221 "phased": false, | 325 "phased": false, |
| 222 "wildtypeAllele": "G", | 326 "wildtypeAllele": "G", |
| 223 "mismatch": false | 327 "mismatch": false, |
| 328 "warnings": [] | |
| 224 }, | 329 }, |
| 225 { | 330 { |
| 226 "gene": "CFTR", | 331 "gene": "CFTR", |
| 227 "chromosome": "chr7", | 332 "chromosome": "chr7", |
| 228 "position": 117534318, | 333 "position": 117534318, |
| 231 "alleles": [ | 336 "alleles": [ |
| 232 "G178R" | 337 "G178R" |
| 233 ], | 338 ], |
| 234 "phased": false, | 339 "phased": false, |
| 235 "wildtypeAllele": "G", | 340 "wildtypeAllele": "G", |
| 236 "mismatch": false | 341 "mismatch": false, |
| 342 "warnings": [] | |
| 237 }, | 343 }, |
| 238 { | 344 { |
| 239 "gene": "CFTR", | 345 "gene": "CFTR", |
| 240 "chromosome": "chr7", | 346 "chromosome": "chr7", |
| 241 "position": 117534363, | 347 "position": 117534363, |
| 244 "alleles": [ | 350 "alleles": [ |
| 245 "E193K" | 351 "E193K" |
| 246 ], | 352 ], |
| 247 "phased": false, | 353 "phased": false, |
| 248 "wildtypeAllele": "G", | 354 "wildtypeAllele": "G", |
| 249 "mismatch": false | 355 "mismatch": false, |
| 356 "warnings": [] | |
| 250 }, | 357 }, |
| 251 { | 358 { |
| 252 "gene": "CFTR", | 359 "gene": "CFTR", |
| 253 "chromosome": "chr7", | 360 "chromosome": "chr7", |
| 254 "position": 117534368, | 361 "position": 117534368, |
| 257 "alleles": [ | 364 "alleles": [ |
| 258 "711+3A-\u003eG" | 365 "711+3A-\u003eG" |
| 259 ], | 366 ], |
| 260 "phased": false, | 367 "phased": false, |
| 261 "wildtypeAllele": "A", | 368 "wildtypeAllele": "A", |
| 262 "mismatch": false | 369 "mismatch": false, |
| 370 "warnings": [] | |
| 263 }, | 371 }, |
| 264 { | 372 { |
| 265 "gene": "CFTR", | 373 "gene": "CFTR", |
| 266 "chromosome": "chr7", | 374 "chromosome": "chr7", |
| 267 "position": 117535285, | 375 "position": 117535285, |
| 270 "alleles": [ | 378 "alleles": [ |
| 271 "L206W" | 379 "L206W" |
| 272 ], | 380 ], |
| 273 "phased": false, | 381 "phased": false, |
| 274 "wildtypeAllele": "T", | 382 "wildtypeAllele": "T", |
| 275 "mismatch": false | 383 "mismatch": false, |
| 384 "warnings": [] | |
| 276 }, | 385 }, |
| 277 { | 386 { |
| 278 "gene": "CFTR", | 387 "gene": "CFTR", |
| 279 "chromosome": "chr7", | 388 "chromosome": "chr7", |
| 280 "position": 117540270, | 389 "position": 117540270, |
| 283 "alleles": [ | 392 "alleles": [ |
| 284 "R347H" | 393 "R347H" |
| 285 ], | 394 ], |
| 286 "phased": false, | 395 "phased": false, |
| 287 "wildtypeAllele": "G", | 396 "wildtypeAllele": "G", |
| 288 "mismatch": false | 397 "mismatch": false, |
| 398 "warnings": [] | |
| 289 }, | 399 }, |
| 290 { | 400 { |
| 291 "gene": "CFTR", | 401 "gene": "CFTR", |
| 292 "chromosome": "chr7", | 402 "chromosome": "chr7", |
| 293 "position": 117540285, | 403 "position": 117540285, |
| 296 "alleles": [ | 406 "alleles": [ |
| 297 "R352Q" | 407 "R352Q" |
| 298 ], | 408 ], |
| 299 "phased": false, | 409 "phased": false, |
| 300 "wildtypeAllele": "G", | 410 "wildtypeAllele": "G", |
| 301 "mismatch": false | 411 "mismatch": false, |
| 412 "warnings": [] | |
| 302 }, | 413 }, |
| 303 { | 414 { |
| 304 "gene": "CFTR", | 415 "gene": "CFTR", |
| 305 "chromosome": "chr7", | 416 "chromosome": "chr7", |
| 306 "position": 117548795, | 417 "position": 117548795, |
| 309 "alleles": [ | 420 "alleles": [ |
| 310 "A455E" | 421 "A455E" |
| 311 ], | 422 ], |
| 312 "phased": false, | 423 "phased": false, |
| 313 "wildtypeAllele": "C", | 424 "wildtypeAllele": "C", |
| 314 "mismatch": false | 425 "mismatch": false, |
| 426 "warnings": [] | |
| 315 }, | 427 }, |
| 316 { | 428 { |
| 317 "gene": "CFTR", | 429 "gene": "CFTR", |
| 318 "chromosome": "chr7", | 430 "chromosome": "chr7", |
| 319 "position": 117587799, | 431 "position": 117587799, |
| 322 "alleles": [ | 434 "alleles": [ |
| 323 "S549R(A\u003eC)" | 435 "S549R(A\u003eC)" |
| 324 ], | 436 ], |
| 325 "phased": false, | 437 "phased": false, |
| 326 "wildtypeAllele": "A", | 438 "wildtypeAllele": "A", |
| 327 "mismatch": false | 439 "mismatch": false, |
| 440 "warnings": [] | |
| 328 }, | 441 }, |
| 329 { | 442 { |
| 330 "gene": "CFTR", | 443 "gene": "CFTR", |
| 331 "chromosome": "chr7", | 444 "chromosome": "chr7", |
| 332 "position": 117587800, | 445 "position": 117587800, |
| 335 "alleles": [ | 448 "alleles": [ |
| 336 "S549N" | 449 "S549N" |
| 337 ], | 450 ], |
| 338 "phased": false, | 451 "phased": false, |
| 339 "wildtypeAllele": "G", | 452 "wildtypeAllele": "G", |
| 340 "mismatch": false | 453 "mismatch": false, |
| 454 "warnings": [] | |
| 341 }, | 455 }, |
| 342 { | 456 { |
| 343 "gene": "CFTR", | 457 "gene": "CFTR", |
| 344 "chromosome": "chr7", | 458 "chromosome": "chr7", |
| 345 "position": 117587801, | 459 "position": 117587801, |
| 348 "alleles": [ | 462 "alleles": [ |
| 349 "S549R(T\u003eG)" | 463 "S549R(T\u003eG)" |
| 350 ], | 464 ], |
| 351 "phased": false, | 465 "phased": false, |
| 352 "wildtypeAllele": "T", | 466 "wildtypeAllele": "T", |
| 353 "mismatch": false | 467 "mismatch": false, |
| 468 "warnings": [] | |
| 354 }, | 469 }, |
| 355 { | 470 { |
| 356 "gene": "CFTR", | 471 "gene": "CFTR", |
| 357 "chromosome": "chr7", | 472 "chromosome": "chr7", |
| 358 "position": 117587805, | 473 "position": 117587805, |
| 361 "alleles": [ | 476 "alleles": [ |
| 362 "G551S" | 477 "G551S" |
| 363 ], | 478 ], |
| 364 "phased": false, | 479 "phased": false, |
| 365 "wildtypeAllele": "G", | 480 "wildtypeAllele": "G", |
| 366 "mismatch": false | 481 "mismatch": false, |
| 482 "warnings": [] | |
| 367 }, | 483 }, |
| 368 { | 484 { |
| 369 "gene": "CFTR", | 485 "gene": "CFTR", |
| 370 "chromosome": "chr7", | 486 "chromosome": "chr7", |
| 371 "position": 117587806, | 487 "position": 117587806, |
| 374 "alleles": [ | 490 "alleles": [ |
| 375 "G551D" | 491 "G551D" |
| 376 ], | 492 ], |
| 377 "phased": false, | 493 "phased": false, |
| 378 "wildtypeAllele": "G", | 494 "wildtypeAllele": "G", |
| 379 "mismatch": false | 495 "mismatch": false, |
| 496 "warnings": [] | |
| 380 }, | 497 }, |
| 381 { | 498 { |
| 382 "gene": "CFTR", | 499 "gene": "CFTR", |
| 383 "chromosome": "chr7", | 500 "chromosome": "chr7", |
| 384 "position": 117590409, | 501 "position": 117590409, |
| 387 "alleles": [ | 504 "alleles": [ |
| 388 "D579G" | 505 "D579G" |
| 389 ], | 506 ], |
| 390 "phased": false, | 507 "phased": false, |
| 391 "wildtypeAllele": "A", | 508 "wildtypeAllele": "A", |
| 392 "mismatch": false | 509 "mismatch": false, |
| 510 "warnings": [] | |
| 393 }, | 511 }, |
| 394 { | 512 { |
| 395 "gene": "CFTR", | 513 "gene": "CFTR", |
| 396 "chromosome": "chr7", | 514 "chromosome": "chr7", |
| 397 "position": 117594930, | 515 "position": 117594930, |
| 400 "alleles": [ | 518 "alleles": [ |
| 401 "E831X" | 519 "E831X" |
| 402 ], | 520 ], |
| 403 "phased": false, | 521 "phased": false, |
| 404 "wildtypeAllele": "G", | 522 "wildtypeAllele": "G", |
| 405 "mismatch": false | 523 "mismatch": false, |
| 524 "warnings": [] | |
| 406 }, | 525 }, |
| 407 { | 526 { |
| 408 "gene": "CFTR", | 527 "gene": "CFTR", |
| 409 "chromosome": "chr7", | 528 "chromosome": "chr7", |
| 410 "position": 117602868, | 529 "position": 117602868, |
| 413 "alleles": [ | 532 "alleles": [ |
| 414 "2789+5G-\u003eA" | 533 "2789+5G-\u003eA" |
| 415 ], | 534 ], |
| 416 "phased": false, | 535 "phased": false, |
| 417 "wildtypeAllele": "G", | 536 "wildtypeAllele": "G", |
| 418 "mismatch": false | 537 "mismatch": false, |
| 538 "warnings": [] | |
| 419 }, | 539 }, |
| 420 { | 540 { |
| 421 "gene": "CFTR", | 541 "gene": "CFTR", |
| 422 "chromosome": "chr7", | 542 "chromosome": "chr7", |
| 423 "position": 117603708, | 543 "position": 117603708, |
| 426 "alleles": [ | 546 "alleles": [ |
| 427 "S945L" | 547 "S945L" |
| 428 ], | 548 ], |
| 429 "phased": false, | 549 "phased": false, |
| 430 "wildtypeAllele": "C", | 550 "wildtypeAllele": "C", |
| 431 "mismatch": false | 551 "mismatch": false, |
| 552 "warnings": [] | |
| 432 }, | 553 }, |
| 433 { | 554 { |
| 434 "gene": "CFTR", | 555 "gene": "CFTR", |
| 435 "chromosome": "chr7", | 556 "chromosome": "chr7", |
| 436 "position": 117606695, | 557 "position": 117606695, |
| 439 "alleles": [ | 560 "alleles": [ |
| 440 "S977F" | 561 "S977F" |
| 441 ], | 562 ], |
| 442 "phased": false, | 563 "phased": false, |
| 443 "wildtypeAllele": "C", | 564 "wildtypeAllele": "C", |
| 444 "mismatch": false | 565 "mismatch": false, |
| 566 "warnings": [] | |
| 445 }, | 567 }, |
| 446 { | 568 { |
| 447 "gene": "CFTR", | 569 "gene": "CFTR", |
| 448 "chromosome": "chr7", | 570 "chromosome": "chr7", |
| 449 "position": 117611555, | 571 "position": 117611555, |
| 452 "alleles": [ | 574 "alleles": [ |
| 453 "3272-26A-\u003eG" | 575 "3272-26A-\u003eG" |
| 454 ], | 576 ], |
| 455 "phased": false, | 577 "phased": false, |
| 456 "wildtypeAllele": "A", | 578 "wildtypeAllele": "A", |
| 457 "mismatch": false | 579 "mismatch": false, |
| 580 "warnings": [] | |
| 458 }, | 581 }, |
| 459 { | 582 { |
| 460 "gene": "CFTR", | 583 "gene": "CFTR", |
| 461 "chromosome": "chr7", | 584 "chromosome": "chr7", |
| 462 "position": 117611595, | 585 "position": 117611595, |
| 465 "alleles": [ | 588 "alleles": [ |
| 466 "F1052V" | 589 "F1052V" |
| 467 ], | 590 ], |
| 468 "phased": false, | 591 "phased": false, |
| 469 "wildtypeAllele": "T", | 592 "wildtypeAllele": "T", |
| 470 "mismatch": false | 593 "mismatch": false, |
| 594 "warnings": [] | |
| 471 }, | 595 }, |
| 472 { | 596 { |
| 473 "gene": "CFTR", | 597 "gene": "CFTR", |
| 474 "chromosome": "chr7", | 598 "chromosome": "chr7", |
| 475 "position": 117611620, | 599 "position": 117611620, |
| 478 "alleles": [ | 602 "alleles": [ |
| 479 "K1060T" | 603 "K1060T" |
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| 1498 "phased": false, | 1705 "phased": false, |
| 1499 "wildtypeAllele": "G", | 1706 "wildtypeAllele": "G", |
| 1500 "mismatch": false | 1707 "mismatch": false, |
| 1708 "warnings": [] | |
| 1501 }, | 1709 }, |
| 1502 { | 1710 { |
| 1503 "gene": "CYP2C19", | 1711 "gene": "CYP2C19", |
| 1504 "chromosome": "chr10", | 1712 "chromosome": "chr10", |
| 1505 "position": 94780653, | 1713 "position": 94780653, |
| 1508 "alleles": [ | 1716 "alleles": [ |
| 1509 "*3" | 1717 "*3" |
| 1510 ], | 1718 ], |
| 1511 "phased": false, | 1719 "phased": false, |
| 1512 "wildtypeAllele": "G", | 1720 "wildtypeAllele": "G", |
| 1513 "mismatch": false | 1721 "mismatch": false, |
| 1722 "warnings": [] | |
| 1514 }, | 1723 }, |
| 1515 { | 1724 { |
| 1516 "gene": "CYP2C19", | 1725 "gene": "CYP2C19", |
| 1517 "chromosome": "chr10", | 1726 "chromosome": "chr10", |
| 1518 "position": 94781858, | 1727 "position": 94781858, |
| 1521 "alleles": [ | 1730 "alleles": [ |
| 1522 "*10" | 1731 "*10" |
| 1523 ], | 1732 ], |
| 1524 "phased": false, | 1733 "phased": false, |
| 1525 "wildtypeAllele": "C", | 1734 "wildtypeAllele": "C", |
| 1526 "mismatch": false | 1735 "mismatch": false, |
| 1736 "warnings": [] | |
| 1527 }, | 1737 }, |
| 1528 { | 1738 { |
| 1529 "gene": "CYP2C19", | 1739 "gene": "CYP2C19", |
| 1530 "chromosome": "chr10", | 1740 "chromosome": "chr10", |
| 1531 "position": 94781859, | 1741 "position": 94781859, |
| 1534 "alleles": [ | 1744 "alleles": [ |
| 1535 "*2" | 1745 "*2" |
| 1536 ], | 1746 ], |
| 1537 "phased": false, | 1747 "phased": false, |
| 1538 "wildtypeAllele": "G", | 1748 "wildtypeAllele": "G", |
| 1539 "mismatch": false | 1749 "mismatch": false, |
| 1750 "warnings": [] | |
| 1540 }, | 1751 }, |
| 1541 { | 1752 { |
| 1542 "gene": "CYP2C19", | 1753 "gene": "CYP2C19", |
| 1543 "chromosome": "chr10", | 1754 "chromosome": "chr10", |
| 1544 "position": 94781944, | 1755 "position": 94781944, |
| 1547 "alleles": [ | 1758 "alleles": [ |
| 1548 "*26" | 1759 "*26" |
| 1549 ], | 1760 ], |
| 1550 "phased": false, | 1761 "phased": false, |
| 1551 "wildtypeAllele": "G", | 1762 "wildtypeAllele": "G", |
| 1552 "mismatch": false | 1763 "mismatch": false, |
| 1764 "warnings": [] | |
| 1553 }, | 1765 }, |
| 1554 { | 1766 { |
| 1555 "gene": "CYP2C19", | 1767 "gene": "CYP2C19", |
| 1556 "chromosome": "chr10", | 1768 "chromosome": "chr10", |
| 1557 "position": 94781999, | 1769 "position": 94781999, |
| 1560 "alleles": [ | 1772 "alleles": [ |
| 1561 "*7" | 1773 "*7" |
| 1562 ], | 1774 ], |
| 1563 "phased": false, | 1775 "phased": false, |
| 1564 "wildtypeAllele": "T", | 1776 "wildtypeAllele": "T", |
| 1565 "mismatch": false | 1777 "mismatch": false, |
| 1778 "warnings": [] | |
| 1566 }, | 1779 }, |
| 1567 { | 1780 { |
| 1568 "gene": "CYP2C19", | 1781 "gene": "CYP2C19", |
| 1569 "chromosome": "chr10", | 1782 "chromosome": "chr10", |
| 1570 "position": 94842861, | 1783 "position": 94842861, |
| 1573 "alleles": [ | 1786 "alleles": [ |
| 1574 "*18" | 1787 "*18" |
| 1575 ], | 1788 ], |
| 1576 "phased": false, | 1789 "phased": false, |
| 1577 "wildtypeAllele": "G", | 1790 "wildtypeAllele": "G", |
| 1578 "mismatch": false | 1791 "mismatch": false, |
| 1792 "warnings": [] | |
| 1579 }, | 1793 }, |
| 1580 { | 1794 { |
| 1581 "gene": "CYP2C19", | 1795 "gene": "CYP2C19", |
| 1582 "chromosome": "chr10", | 1796 "chromosome": "chr10", |
| 1583 "position": 94842866, | 1797 "position": 94842866, |
| 1613 "*35", | 1827 "*35", |
| 1614 "*39" | 1828 "*39" |
| 1615 ], | 1829 ], |
| 1616 "phased": false, | 1830 "phased": false, |
| 1617 "wildtypeAllele": "A", | 1831 "wildtypeAllele": "A", |
| 1618 "mismatch": false | 1832 "mismatch": false, |
| 1833 "warnings": [] | |
| 1619 }, | 1834 }, |
| 1620 { | 1835 { |
| 1621 "gene": "CYP2C19", | 1836 "gene": "CYP2C19", |
| 1622 "chromosome": "chr10", | 1837 "chromosome": "chr10", |
| 1623 "position": 94842879, | 1838 "position": 94842879, |
| 1626 "alleles": [ | 1841 "alleles": [ |
| 1627 "*24" | 1842 "*24" |
| 1628 ], | 1843 ], |
| 1629 "phased": false, | 1844 "phased": false, |
| 1630 "wildtypeAllele": "G", | 1845 "wildtypeAllele": "G", |
| 1631 "mismatch": false | 1846 "mismatch": false, |
| 1847 "warnings": [] | |
| 1632 }, | 1848 }, |
| 1633 { | 1849 { |
| 1634 "gene": "CYP2C19", | 1850 "gene": "CYP2C19", |
| 1635 "chromosome": "chr10", | 1851 "chromosome": "chr10", |
| 1636 "position": 94842995, | 1852 "position": 94842995, |
| 1639 "alleles": [ | 1855 "alleles": [ |
| 1640 "*28" | 1856 "*28" |
| 1641 ], | 1857 ], |
| 1642 "phased": false, | 1858 "phased": false, |
| 1643 "wildtypeAllele": "G", | 1859 "wildtypeAllele": "G", |
| 1644 "mismatch": false | 1860 "mismatch": false, |
| 1861 "warnings": [] | |
| 1645 }, | 1862 }, |
| 1646 { | 1863 { |
| 1647 "gene": "CYP2C19", | 1864 "gene": "CYP2C19", |
| 1648 "chromosome": "chr10", | 1865 "chromosome": "chr10", |
| 1649 "position": 94849995, | 1866 "position": 94849995, |
| 1652 "alleles": [ | 1869 "alleles": [ |
| 1653 "*13" | 1870 "*13" |
| 1654 ], | 1871 ], |
| 1655 "phased": false, | 1872 "phased": false, |
| 1656 "wildtypeAllele": "C", | 1873 "wildtypeAllele": "C", |
| 1657 "mismatch": false | 1874 "mismatch": false, |
| 1875 "warnings": [] | |
| 1658 }, | 1876 }, |
| 1659 { | 1877 { |
| 1660 "gene": "CYP2C19", | 1878 "gene": "CYP2C19", |
| 1661 "chromosome": "chr10", | 1879 "chromosome": "chr10", |
| 1662 "position": 94852738, | 1880 "position": 94852738, |
| 1665 "alleles": [ | 1883 "alleles": [ |
| 1666 "*5" | 1884 "*5" |
| 1667 ], | 1885 ], |
| 1668 "phased": false, | 1886 "phased": false, |
| 1669 "wildtypeAllele": "C", | 1887 "wildtypeAllele": "C", |
| 1670 "mismatch": false | 1888 "mismatch": false, |
| 1889 "warnings": [] | |
| 1671 }, | 1890 }, |
| 1672 { | 1891 { |
| 1673 "gene": "CYP2C19", | 1892 "gene": "CYP2C19", |
| 1674 "chromosome": "chr10", | 1893 "chromosome": "chr10", |
| 1675 "position": 94852765, | 1894 "position": 94852765, |
| 1678 "alleles": [ | 1897 "alleles": [ |
| 1679 "*16" | 1898 "*16" |
| 1680 ], | 1899 ], |
| 1681 "phased": false, | 1900 "phased": false, |
| 1682 "wildtypeAllele": "C", | 1901 "wildtypeAllele": "C", |
| 1683 "mismatch": false | 1902 "mismatch": false, |
| 1903 "warnings": [] | |
| 1684 }, | 1904 }, |
| 1685 { | 1905 { |
| 1686 "gene": "CYP2C19", | 1906 "gene": "CYP2C19", |
| 1687 "chromosome": "chr10", | 1907 "chromosome": "chr10", |
| 1688 "position": 94852785, | 1908 "position": 94852785, |
| 1691 "alleles": [ | 1911 "alleles": [ |
| 1692 "*25" | 1912 "*25" |
| 1693 ], | 1913 ], |
| 1694 "phased": false, | 1914 "phased": false, |
| 1695 "wildtypeAllele": "C", | 1915 "wildtypeAllele": "C", |
| 1696 "mismatch": false | 1916 "mismatch": false, |
| 1917 "warnings": [] | |
| 1697 }, | 1918 }, |
| 1698 { | 1919 { |
| 1699 "gene": "CYP2C19", | 1920 "gene": "CYP2C19", |
| 1700 "chromosome": "chr10", | 1921 "chromosome": "chr10", |
| 1701 "position": 94852914, | 1922 "position": 94852914, |
| 1704 "alleles": [ | 1925 "alleles": [ |
| 1705 "*12" | 1926 "*12" |
| 1706 ], | 1927 ], |
| 1707 "phased": false, | 1928 "phased": false, |
| 1708 "wildtypeAllele": "A", | 1929 "wildtypeAllele": "A", |
| 1709 "mismatch": false | 1930 "mismatch": false, |
| 1931 "warnings": [] | |
| 1710 } | 1932 } |
| 1711 ], | 1933 ], |
| 1712 "variantsOfInterest": [], | 1934 "variantsOfInterest": [], |
| 1713 "highlightedVariants": [] | 1935 "highlightedVariants": [] |
| 1714 }, | 1936 }, |
| 1719 "callSource": "MATCHER", | 1941 "callSource": "MATCHER", |
| 1720 "uncalledHaplotypes": [ | 1942 "uncalledHaplotypes": [ |
| 1721 "*72", | 1943 "*72", |
| 1722 "*73", | 1944 "*73", |
| 1723 "*74", | 1945 "*74", |
| 1724 "*75" | 1946 "*75", |
| 1947 "*76", | |
| 1948 "*77", | |
| 1949 "*78", | |
| 1950 "*79", | |
| 1951 "*80", | |
| 1952 "*81", | |
| 1953 "*82", | |
| 1954 "*83", | |
| 1955 "*84", | |
| 1956 "*85" | |
| 1725 ], | 1957 ], |
| 1726 "messages": [], | 1958 "messages": [], |
| 1727 "relatedDrugs": [], | 1959 "relatedDrugs": [], |
| 1728 "matcherDiplotypes": [ | 1960 "matcherDiplotypes": [ |
| 1729 { | 1961 { |
| 1738 "name": "*1", | 1970 "name": "*1", |
| 1739 "function": "Normal function", | 1971 "function": "Normal function", |
| 1740 "reference": true | 1972 "reference": true |
| 1741 }, | 1973 }, |
| 1742 "gene": "CYP2C9", | 1974 "gene": "CYP2C9", |
| 1743 "phenotype": "Normal Metabolizer", | 1975 "phenotypes": [ |
| 1976 "Normal Metabolizer" | |
| 1977 ], | |
| 1744 "variant": null, | 1978 "variant": null, |
| 1745 "lookupKey": "2", | 1979 "lookupKey": [ |
| 1980 "2" | |
| 1981 ], | |
| 1746 "label": "*1/*1" | 1982 "label": "*1/*1" |
| 1747 } | 1983 } |
| 1748 ], | 1984 ], |
| 1749 "diplotypes": [ | 1985 "diplotypes": [ |
| 1750 { | 1986 { |
| 1759 "name": "*1", | 1995 "name": "*1", |
| 1760 "function": "Normal function", | 1996 "function": "Normal function", |
| 1761 "reference": true | 1997 "reference": true |
| 1762 }, | 1998 }, |
| 1763 "gene": "CYP2C9", | 1999 "gene": "CYP2C9", |
| 1764 "phenotype": "Normal Metabolizer", | 2000 "phenotypes": [ |
| 2001 "Normal Metabolizer" | |
| 2002 ], | |
| 1765 "variant": null, | 2003 "variant": null, |
| 1766 "lookupKey": "2", | 2004 "lookupKey": [ |
| 2005 "2" | |
| 2006 ], | |
| 1767 "label": "*1/*1" | 2007 "label": "*1/*1" |
| 1768 } | 2008 } |
| 1769 ], | 2009 ], |
| 1770 "variants": [ | 2010 "variants": [ |
| 1771 { | 2011 { |
| 1777 "alleles": [ | 2017 "alleles": [ |
| 1778 "*36" | 2018 "*36" |
| 1779 ], | 2019 ], |
| 1780 "phased": false, | 2020 "phased": false, |
| 1781 "wildtypeAllele": "A", | 2021 "wildtypeAllele": "A", |
| 1782 "mismatch": false | 2022 "mismatch": false, |
| 2023 "warnings": [] | |
| 1783 }, | 2024 }, |
| 1784 { | 2025 { |
| 1785 "gene": "CYP2C9", | 2026 "gene": "CYP2C9", |
| 1786 "chromosome": "chr10", | 2027 "chromosome": "chr10", |
| 1787 "position": 94938737, | 2028 "position": 94938737, |
| 1790 "alleles": [ | 2031 "alleles": [ |
| 1791 "*7" | 2032 "*7" |
| 1792 ], | 2033 ], |
| 1793 "phased": false, | 2034 "phased": false, |
| 1794 "wildtypeAllele": "C", | 2035 "wildtypeAllele": "C", |
| 1795 "mismatch": false | 2036 "mismatch": false, |
| 2037 "warnings": [] | |
| 1796 }, | 2038 }, |
| 1797 { | 2039 { |
| 1798 "gene": "CYP2C9", | 2040 "gene": "CYP2C9", |
| 1799 "chromosome": "chr10", | 2041 "chromosome": "chr10", |
| 1800 "position": 94938771, | 2042 "position": 94938771, |
| 1803 "alleles": [ | 2045 "alleles": [ |
| 1804 "*21" | 2046 "*21" |
| 1805 ], | 2047 ], |
| 1806 "phased": false, | 2048 "phased": false, |
| 1807 "wildtypeAllele": "C", | 2049 "wildtypeAllele": "C", |
| 1808 "mismatch": false | 2050 "mismatch": false, |
| 2051 "warnings": [] | |
| 1809 }, | 2052 }, |
| 1810 { | 2053 { |
| 1811 "gene": "CYP2C9", | 2054 "gene": "CYP2C9", |
| 1812 "chromosome": "chr10", | 2055 "chromosome": "chr10", |
| 1813 "position": 94938803, | 2056 "position": 94938803, |
| 1816 "alleles": [ | 2059 "alleles": [ |
| 1817 "*22" | 2060 "*22" |
| 1818 ], | 2061 ], |
| 1819 "phased": false, | 2062 "phased": false, |
| 1820 "wildtypeAllele": "A", | 2063 "wildtypeAllele": "A", |
| 1821 "mismatch": false | 2064 "mismatch": false, |
| 2065 "warnings": [] | |
| 1822 }, | 2066 }, |
| 1823 { | 2067 { |
| 1824 "gene": "CYP2C9", | 2068 "gene": "CYP2C9", |
| 1825 "chromosome": "chr10", | 2069 "chromosome": "chr10", |
| 1826 "position": 94938828, | 2070 "position": 94938828, |
| 1829 "alleles": [ | 2073 "alleles": [ |
| 1830 "*37" | 2074 "*37" |
| 1831 ], | 2075 ], |
| 1832 "phased": false, | 2076 "phased": false, |
| 1833 "wildtypeAllele": "A", | 2077 "wildtypeAllele": "A", |
| 1834 "mismatch": false | 2078 "mismatch": false, |
| 2079 "warnings": [] | |
| 1835 }, | 2080 }, |
| 1836 { | 2081 { |
| 1837 "gene": "CYP2C9", | 2082 "gene": "CYP2C9", |
| 1838 "chromosome": "chr10", | 2083 "chromosome": "chr10", |
| 1839 "position": 94941897, | 2084 "position": 94941897, |
| 1842 "alleles": [ | 2087 "alleles": [ |
| 1843 "*20" | 2088 "*20" |
| 1844 ], | 2089 ], |
| 1845 "phased": false, | 2090 "phased": false, |
| 1846 "wildtypeAllele": "G", | 2091 "wildtypeAllele": "G", |
| 1847 "mismatch": false | 2092 "mismatch": false, |
| 2093 "warnings": [] | |
| 1848 }, | 2094 }, |
| 1849 { | 2095 { |
| 1850 "gene": "CYP2C9", | 2096 "gene": "CYP2C9", |
| 1851 "chromosome": "chr10", | 2097 "chromosome": "chr10", |
| 1852 "position": 94941915, | 2098 "position": 94941915, |
| 1855 "alleles": [ | 2101 "alleles": [ |
| 1856 "*23" | 2102 "*23" |
| 1857 ], | 2103 ], |
| 1858 "phased": false, | 2104 "phased": false, |
| 1859 "wildtypeAllele": "G", | 2105 "wildtypeAllele": "G", |
| 1860 "mismatch": false | 2106 "mismatch": false, |
| 2107 "warnings": [] | |
| 1861 }, | 2108 }, |
| 1862 { | 2109 { |
| 1863 "gene": "CYP2C9", | 2110 "gene": "CYP2C9", |
| 1864 "chromosome": "chr10", | 2111 "chromosome": "chr10", |
| 1865 "position": 94941958, | 2112 "position": 94941958, |
| 1868 "alleles": [ | 2115 "alleles": [ |
| 1869 "*13" | 2116 "*13" |
| 1870 ], | 2117 ], |
| 1871 "phased": false, | 2118 "phased": false, |
| 1872 "wildtypeAllele": "T", | 2119 "wildtypeAllele": "T", |
| 1873 "mismatch": false | 2120 "mismatch": false, |
| 2121 "warnings": [] | |
| 1874 }, | 2122 }, |
| 1875 { | 2123 { |
| 1876 "gene": "CYP2C9", | 2124 "gene": "CYP2C9", |
| 1877 "chromosome": "chr10", | 2125 "chromosome": "chr10", |
| 1878 "position": 94941976, | 2126 "position": 94941976, |
| 1881 "alleles": [ | 2129 "alleles": [ |
| 1882 "*38" | 2130 "*38" |
| 1883 ], | 2131 ], |
| 1884 "phased": false, | 2132 "phased": false, |
| 1885 "wildtypeAllele": "G", | 2133 "wildtypeAllele": "G", |
| 1886 "mismatch": false | 2134 "mismatch": false, |
| 2135 "warnings": [] | |
| 1887 }, | 2136 }, |
| 1888 { | 2137 { |
| 1889 "gene": "CYP2C9", | 2138 "gene": "CYP2C9", |
| 1890 "chromosome": "chr10", | 2139 "chromosome": "chr10", |
| 1891 "position": 94941982, | 2140 "position": 94941982, |
| 1894 "alleles": [ | 2143 "alleles": [ |
| 1895 "*39" | 2144 "*39" |
| 1896 ], | 2145 ], |
| 1897 "phased": false, | 2146 "phased": false, |
| 1898 "wildtypeAllele": "G", | 2147 "wildtypeAllele": "G", |
| 1899 "mismatch": false | 2148 "mismatch": false, |
| 2149 "warnings": [] | |
| 1900 }, | 2150 }, |
| 1901 { | 2151 { |
| 1902 "gene": "CYP2C9", | 2152 "gene": "CYP2C9", |
| 1903 "chromosome": "chr10", | 2153 "chromosome": "chr10", |
| 1904 "position": 94942018, | 2154 "position": 94942018, |
| 1907 "alleles": [ | 2157 "alleles": [ |
| 1908 "*40" | 2158 "*40" |
| 1909 ], | 2159 ], |
| 1910 "phased": false, | 2160 "phased": false, |
| 1911 "wildtypeAllele": "T", | 2161 "wildtypeAllele": "T", |
| 1912 "mismatch": false | 2162 "mismatch": false, |
| 2163 "warnings": [] | |
| 1913 }, | 2164 }, |
| 1914 { | 2165 { |
| 1915 "gene": "CYP2C9", | 2166 "gene": "CYP2C9", |
| 1916 "chromosome": "chr10", | 2167 "chromosome": "chr10", |
| 1917 "position": 94942205, | 2168 "position": 94942205, |
| 1920 "alleles": [ | 2171 "alleles": [ |
| 1921 "*25" | 2172 "*25" |
| 1922 ], | 2173 ], |
| 1923 "phased": false, | 2174 "phased": false, |
| 1924 "wildtypeAllele": "CAATGGAAAGA", | 2175 "wildtypeAllele": "CAATGGAAAGA", |
| 1925 "mismatch": false | 2176 "mismatch": false, |
| 2177 "warnings": [] | |
| 1926 }, | 2178 }, |
| 1927 { | 2179 { |
| 1928 "gene": "CYP2C9", | 2180 "gene": "CYP2C9", |
| 1929 "chromosome": "chr10", | 2181 "chromosome": "chr10", |
| 1930 "position": 94942216, | 2182 "position": 94942216, |
| 1933 "alleles": [ | 2185 "alleles": [ |
| 1934 "*41" | 2186 "*41" |
| 1935 ], | 2187 ], |
| 1936 "phased": false, | 2188 "phased": false, |
| 1937 "wildtypeAllele": "A", | 2189 "wildtypeAllele": "A", |
| 1938 "mismatch": false | 2190 "mismatch": false, |
| 2191 "warnings": [] | |
| 1939 }, | 2192 }, |
| 1940 { | 2193 { |
| 1941 "gene": "CYP2C9", | 2194 "gene": "CYP2C9", |
| 1942 "chromosome": "chr10", | 2195 "chromosome": "chr10", |
| 1943 "position": 94942230, | 2196 "position": 94942230, |
| 1946 "alleles": [ | 2199 "alleles": [ |
| 1947 "*43" | 2200 "*43" |
| 1948 ], | 2201 ], |
| 1949 "phased": false, | 2202 "phased": false, |
| 1950 "wildtypeAllele": "C", | 2203 "wildtypeAllele": "C", |
| 1951 "mismatch": false | 2204 "mismatch": false, |
| 2205 "warnings": [] | |
| 1952 }, | 2206 }, |
| 1953 { | 2207 { |
| 1954 "gene": "CYP2C9", | 2208 "gene": "CYP2C9", |
| 1955 "chromosome": "chr10", | 2209 "chromosome": "chr10", |
| 1956 "position": 94942231, | 2210 "position": 94942231, |
| 1959 "alleles": [ | 2213 "alleles": [ |
| 1960 "*42" | 2214 "*42" |
| 1961 ], | 2215 ], |
| 1962 "phased": false, | 2216 "phased": false, |
| 1963 "wildtypeAllele": "G", | 2217 "wildtypeAllele": "G", |
| 1964 "mismatch": false | 2218 "mismatch": false, |
| 2219 "warnings": [] | |
| 1965 }, | 2220 }, |
| 1966 { | 2221 { |
| 1967 "gene": "CYP2C9", | 2222 "gene": "CYP2C9", |
| 1968 "chromosome": "chr10", | 2223 "chromosome": "chr10", |
| 1969 "position": 94942233, | 2224 "position": 94942233, |
| 1972 "alleles": [ | 2227 "alleles": [ |
| 1973 "*62" | 2228 "*62" |
| 1974 ], | 2229 ], |
| 1975 "phased": false, | 2230 "phased": false, |
| 1976 "wildtypeAllele": "C", | 2231 "wildtypeAllele": "C", |
| 1977 "mismatch": false | 2232 "mismatch": false, |
| 2233 "warnings": [] | |
| 1978 }, | 2234 }, |
| 1979 { | 2235 { |
| 1980 "gene": "CYP2C9", | 2236 "gene": "CYP2C9", |
| 1981 "chromosome": "chr10", | 2237 "chromosome": "chr10", |
| 1982 "position": 94942234, | 2238 "position": 94942234, |
| 1986 "*14", | 2242 "*14", |
| 1987 "*35" | 2243 "*35" |
| 1988 ], | 2244 ], |
| 1989 "phased": false, | 2245 "phased": false, |
| 1990 "wildtypeAllele": "G", | 2246 "wildtypeAllele": "G", |
| 1991 "mismatch": false | 2247 "mismatch": false, |
| 2248 "warnings": [] | |
| 1992 }, | 2249 }, |
| 1993 { | 2250 { |
| 1994 "gene": "CYP2C9", | 2251 "gene": "CYP2C9", |
| 1995 "chromosome": "chr10", | 2252 "chromosome": "chr10", |
| 1996 "position": 94942249, | 2253 "position": 94942249, |
| 2000 "*26", | 2257 "*26", |
| 2001 "*44" | 2258 "*44" |
| 2002 ], | 2259 ], |
| 2003 "phased": false, | 2260 "phased": false, |
| 2004 "wildtypeAllele": "C", | 2261 "wildtypeAllele": "C", |
| 2005 "mismatch": false | 2262 "mismatch": false, |
| 2263 "warnings": [] | |
| 2006 }, | 2264 }, |
| 2007 { | 2265 { |
| 2008 "gene": "CYP2C9", | 2266 "gene": "CYP2C9", |
| 2009 "chromosome": "chr10", | 2267 "chromosome": "chr10", |
| 2010 "position": 94942254, | 2268 "position": 94942254, |
| 2013 "alleles": [ | 2271 "alleles": [ |
| 2014 "*45" | 2272 "*45" |
| 2015 ], | 2273 ], |
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| 3280 { | 3730 { |
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| 3394 "wildtypeAllele": "C", | 3852 "wildtypeAllele": "C", |
| 3395 "mismatch": false | 3853 "mismatch": false, |
| 3854 "warnings": [] | |
| 3396 }, | 3855 }, |
| 3397 { | 3856 { |
| 3398 "gene": "DPYD", | 3857 "gene": "DPYD", |
| 3399 "chromosome": "chr1", | 3858 "chromosome": "chr1", |
| 3400 "position": 97450059, | 3859 "position": 97450059, |
| 3403 "alleles": [ | 3862 "alleles": [ |
| 3404 "c.1905C\u003eG" | 3863 "c.1905C\u003eG" |
| 3405 ], | 3864 ], |
| 3406 "phased": false, | 3865 "phased": false, |
| 3407 "wildtypeAllele": "G", | 3866 "wildtypeAllele": "G", |
| 3408 "mismatch": false | 3867 "mismatch": false, |
| 3868 "warnings": [] | |
| 3409 }, | 3869 }, |
| 3410 { | 3870 { |
| 3411 "gene": "DPYD", | 3871 "gene": "DPYD", |
| 3412 "chromosome": "chr1", | 3872 "chromosome": "chr1", |
| 3413 "position": 97450065, | 3873 "position": 97450065, |
| 3416 "alleles": [ | 3876 "alleles": [ |
| 3417 "c.1898delC (*3)" | 3877 "c.1898delC (*3)" |
| 3418 ], | 3878 ], |
| 3419 "phased": false, | 3879 "phased": false, |
| 3420 "wildtypeAllele": "TG", | 3880 "wildtypeAllele": "TG", |
| 3421 "mismatch": false | 3881 "mismatch": false, |
| 3882 "warnings": [] | |
| 3422 }, | 3883 }, |
| 3423 { | 3884 { |
| 3424 "gene": "DPYD", | 3885 "gene": "DPYD", |
| 3425 "chromosome": "chr1", | 3886 "chromosome": "chr1", |
| 3426 "position": 97450068, | 3887 "position": 97450068, |
| 3429 "alleles": [ | 3890 "alleles": [ |
| 3430 "c.1896T\u003eC" | 3891 "c.1896T\u003eC" |
| 3431 ], | 3892 ], |
| 3432 "phased": false, | 3893 "phased": false, |
| 3433 "wildtypeAllele": "A", | 3894 "wildtypeAllele": "A", |
| 3434 "mismatch": false | 3895 "mismatch": false, |
| 3896 "warnings": [] | |
| 3435 }, | 3897 }, |
| 3436 { | 3898 { |
| 3437 "gene": "DPYD", | 3899 "gene": "DPYD", |
| 3438 "chromosome": "chr1", | 3900 "chromosome": "chr1", |
| 3439 "position": 97450168, | 3901 "position": 97450168, |
| 3442 "alleles": [ | 3904 "alleles": [ |
| 3443 "c.1796T\u003eC" | 3905 "c.1796T\u003eC" |
| 3444 ], | 3906 ], |
| 3445 "phased": false, | 3907 "phased": false, |
| 3446 "wildtypeAllele": "A", | 3908 "wildtypeAllele": "A", |
| 3447 "mismatch": false | 3909 "mismatch": false, |
| 3910 "warnings": [] | |
| 3448 }, | 3911 }, |
| 3449 { | 3912 { |
| 3450 "gene": "DPYD", | 3913 "gene": "DPYD", |
| 3451 "chromosome": "chr1", | 3914 "chromosome": "chr1", |
| 3452 "position": 97450187, | 3915 "position": 97450187, |
| 3455 "alleles": [ | 3918 "alleles": [ |
| 3456 "c.1777G\u003eA" | 3919 "c.1777G\u003eA" |
| 3457 ], | 3920 ], |
| 3458 "phased": false, | 3921 "phased": false, |
| 3459 "wildtypeAllele": "C", | 3922 "wildtypeAllele": "C", |
| 3460 "mismatch": false | 3923 "mismatch": false, |
| 3924 "warnings": [] | |
| 3461 }, | 3925 }, |
| 3462 { | 3926 { |
| 3463 "gene": "DPYD", | 3927 "gene": "DPYD", |
| 3464 "chromosome": "chr1", | 3928 "chromosome": "chr1", |
| 3465 "position": 97450189, | 3929 "position": 97450189, |
| 3468 "alleles": [ | 3932 "alleles": [ |
| 3469 "c.1775G\u003eA" | 3933 "c.1775G\u003eA" |
| 3470 ], | 3934 ], |
| 3471 "phased": false, | 3935 "phased": false, |
| 3472 "wildtypeAllele": "C", | 3936 "wildtypeAllele": "C", |
| 3473 "mismatch": false | 3937 "mismatch": false, |
| 3938 "warnings": [] | |
| 3474 }, | 3939 }, |
| 3475 { | 3940 { |
| 3476 "gene": "DPYD", | 3941 "gene": "DPYD", |
| 3477 "chromosome": "chr1", | 3942 "chromosome": "chr1", |
| 3478 "position": 97450190, | 3943 "position": 97450190, |
| 3481 "alleles": [ | 3946 "alleles": [ |
| 3482 "c.1774C\u003eT" | 3947 "c.1774C\u003eT" |
| 3483 ], | 3948 ], |
| 3484 "phased": false, | 3949 "phased": false, |
| 3485 "wildtypeAllele": "G", | 3950 "wildtypeAllele": "G", |
| 3486 "mismatch": false | 3951 "mismatch": false, |
| 3952 "warnings": [] | |
| 3487 }, | 3953 }, |
| 3488 { | 3954 { |
| 3489 "gene": "DPYD", | 3955 "gene": "DPYD", |
| 3490 "chromosome": "chr1", | 3956 "chromosome": "chr1", |
| 3491 "position": 97515784, | 3957 "position": 97515784, |
| 3494 "alleles": [ | 3960 "alleles": [ |
| 3495 "c.1682G\u003eT" | 3961 "c.1682G\u003eT" |
| 3496 ], | 3962 ], |
| 3497 "phased": false, | 3963 "phased": false, |
| 3498 "wildtypeAllele": "C", | 3964 "wildtypeAllele": "C", |
| 3499 "mismatch": false | 3965 "mismatch": false, |
| 3966 "warnings": [] | |
| 3500 }, | 3967 }, |
| 3501 { | 3968 { |
| 3502 "gene": "DPYD", | 3969 "gene": "DPYD", |
| 3503 "chromosome": "chr1", | 3970 "chromosome": "chr1", |
| 3504 "position": 97515787, | 3971 "position": 97515787, |
| 3507 "alleles": [ | 3974 "alleles": [ |
| 3508 "c.1679T\u003eG (*13)" | 3975 "c.1679T\u003eG (*13)" |
| 3509 ], | 3976 ], |
| 3510 "phased": false, | 3977 "phased": false, |
| 3511 "wildtypeAllele": "A", | 3978 "wildtypeAllele": "A", |
| 3512 "mismatch": false | 3979 "mismatch": false, |
| 3980 "warnings": [] | |
| 3513 }, | 3981 }, |
| 3514 { | 3982 { |
| 3515 "gene": "DPYD", | 3983 "gene": "DPYD", |
| 3516 "chromosome": "chr1", | 3984 "chromosome": "chr1", |
| 3517 "position": 97515839, | 3985 "position": 97515839, |
| 3520 "alleles": [ | 3988 "alleles": [ |
| 3521 "c.1627A\u003eG (*5)" | 3989 "c.1627A\u003eG (*5)" |
| 3522 ], | 3990 ], |
| 3523 "phased": false, | 3991 "phased": false, |
| 3524 "wildtypeAllele": "T", | 3992 "wildtypeAllele": "T", |
| 3525 "mismatch": false | 3993 "mismatch": false, |
| 3994 "warnings": [] | |
| 3526 }, | 3995 }, |
| 3527 { | 3996 { |
| 3528 "gene": "DPYD", | 3997 "gene": "DPYD", |
| 3529 "chromosome": "chr1", | 3998 "chromosome": "chr1", |
| 3530 "position": 97515851, | 3999 "position": 97515851, |
| 3533 "alleles": [ | 4002 "alleles": [ |
| 3534 "c.1615G\u003eA" | 4003 "c.1615G\u003eA" |
| 3535 ], | 4004 ], |
| 3536 "phased": false, | 4005 "phased": false, |
| 3537 "wildtypeAllele": "C", | 4006 "wildtypeAllele": "C", |
| 3538 "mismatch": false | 4007 "mismatch": false, |
| 4008 "warnings": [] | |
| 3539 }, | 4009 }, |
| 3540 { | 4010 { |
| 3541 "gene": "DPYD", | 4011 "gene": "DPYD", |
| 3542 "chromosome": "chr1", | 4012 "chromosome": "chr1", |
| 3543 "position": 97515865, | 4013 "position": 97515865, |
| 3546 "alleles": [ | 4016 "alleles": [ |
| 3547 "c.1601G\u003eA (*4)" | 4017 "c.1601G\u003eA (*4)" |
| 3548 ], | 4018 ], |
| 3549 "phased": false, | 4019 "phased": false, |
| 3550 "wildtypeAllele": "C", | 4020 "wildtypeAllele": "C", |
| 3551 "mismatch": false | 4021 "mismatch": false, |
| 4022 "warnings": [] | |
| 3552 }, | 4023 }, |
| 3553 { | 4024 { |
| 3554 "gene": "DPYD", | 4025 "gene": "DPYD", |
| 3555 "chromosome": "chr1", | 4026 "chromosome": "chr1", |
| 3556 "position": 97515889, | 4027 "position": 97515889, |
| 3559 "alleles": [ | 4030 "alleles": [ |
| 3560 "c.1577C\u003eG" | 4031 "c.1577C\u003eG" |
| 3561 ], | 4032 ], |
| 3562 "phased": false, | 4033 "phased": false, |
| 3563 "wildtypeAllele": "G", | 4034 "wildtypeAllele": "G", |
| 3564 "mismatch": false | 4035 "mismatch": false, |
| 4036 "warnings": [] | |
| 3565 }, | 4037 }, |
| 3566 { | 4038 { |
| 3567 "gene": "DPYD", | 4039 "gene": "DPYD", |
| 3568 "chromosome": "chr1", | 4040 "chromosome": "chr1", |
| 3569 "position": 97515923, | 4041 "position": 97515923, |
| 3572 "alleles": [ | 4044 "alleles": [ |
| 3573 "c.1543G\u003eA" | 4045 "c.1543G\u003eA" |
| 3574 ], | 4046 ], |
| 3575 "phased": false, | 4047 "phased": false, |
| 3576 "wildtypeAllele": "C", | 4048 "wildtypeAllele": "C", |
| 3577 "mismatch": false | 4049 "mismatch": false, |
| 4050 "warnings": [] | |
| 3578 }, | 4051 }, |
| 3579 { | 4052 { |
| 3580 "gene": "DPYD", | 4053 "gene": "DPYD", |
| 3581 "chromosome": "chr1", | 4054 "chromosome": "chr1", |
| 3582 "position": 97549565, | 4055 "position": 97549565, |
| 3585 "alleles": [ | 4058 "alleles": [ |
| 3586 "c.1519G\u003eA" | 4059 "c.1519G\u003eA" |
| 3587 ], | 4060 ], |
| 3588 "phased": false, | 4061 "phased": false, |
| 3589 "wildtypeAllele": "C", | 4062 "wildtypeAllele": "C", |
| 3590 "mismatch": false | 4063 "mismatch": false, |
| 4064 "warnings": [] | |
| 3591 }, | 4065 }, |
| 3592 { | 4066 { |
| 3593 "gene": "DPYD", | 4067 "gene": "DPYD", |
| 3594 "chromosome": "chr1", | 4068 "chromosome": "chr1", |
| 3595 "position": 97549600, | 4069 "position": 97549600, |
| 3598 "alleles": [ | 4072 "alleles": [ |
| 3599 "c.1484A\u003eG" | 4073 "c.1484A\u003eG" |
| 3600 ], | 4074 ], |
| 3601 "phased": false, | 4075 "phased": false, |
| 3602 "wildtypeAllele": "T", | 4076 "wildtypeAllele": "T", |
| 3603 "mismatch": false | 4077 "mismatch": false, |
| 4078 "warnings": [] | |
| 3604 }, | 4079 }, |
| 3605 { | 4080 { |
| 3606 "gene": "DPYD", | 4081 "gene": "DPYD", |
| 3607 "chromosome": "chr1", | 4082 "chromosome": "chr1", |
| 3608 "position": 97549609, | 4083 "position": 97549609, |
| 3611 "alleles": [ | 4086 "alleles": [ |
| 3612 "c.1475C\u003eT" | 4087 "c.1475C\u003eT" |
| 3613 ], | 4088 ], |
| 3614 "phased": false, | 4089 "phased": false, |
| 3615 "wildtypeAllele": "G", | 4090 "wildtypeAllele": "G", |
| 3616 "mismatch": false | 4091 "mismatch": false, |
| 4092 "warnings": [] | |
| 3617 }, | 4093 }, |
| 3618 { | 4094 { |
| 3619 "gene": "DPYD", | 4095 "gene": "DPYD", |
| 3620 "chromosome": "chr1", | 4096 "chromosome": "chr1", |
| 3621 "position": 97549681, | 4097 "position": 97549681, |
| 3624 "alleles": [ | 4100 "alleles": [ |
| 3625 "c.1403C\u003eA" | 4101 "c.1403C\u003eA" |
| 3626 ], | 4102 ], |
| 3627 "phased": false, | 4103 "phased": false, |
| 3628 "wildtypeAllele": "G", | 4104 "wildtypeAllele": "G", |
| 3629 "mismatch": false | 4105 "mismatch": false, |
| 4106 "warnings": [] | |
| 3630 }, | 4107 }, |
| 3631 { | 4108 { |
| 3632 "gene": "DPYD", | 4109 "gene": "DPYD", |
| 3633 "chromosome": "chr1", | 4110 "chromosome": "chr1", |
| 3634 "position": 97549713, | 4111 "position": 97549713, |
| 3637 "alleles": [ | 4114 "alleles": [ |
| 3638 "c.1371C\u003eT" | 4115 "c.1371C\u003eT" |
| 3639 ], | 4116 ], |
| 3640 "phased": false, | 4117 "phased": false, |
| 3641 "wildtypeAllele": "G", | 4118 "wildtypeAllele": "G", |
| 3642 "mismatch": false | 4119 "mismatch": false, |
| 4120 "warnings": [] | |
| 3643 }, | 4121 }, |
| 3644 { | 4122 { |
| 3645 "gene": "DPYD", | 4123 "gene": "DPYD", |
| 3646 "chromosome": "chr1", | 4124 "chromosome": "chr1", |
| 3647 "position": 97549726, | 4125 "position": 97549726, |
| 3650 "alleles": [ | 4128 "alleles": [ |
| 3651 "c.1358C\u003eG" | 4129 "c.1358C\u003eG" |
| 3652 ], | 4130 ], |
| 3653 "phased": false, | 4131 "phased": false, |
| 3654 "wildtypeAllele": "G", | 4132 "wildtypeAllele": "G", |
| 3655 "mismatch": false | 4133 "mismatch": false, |
| 4134 "warnings": [] | |
| 3656 }, | 4135 }, |
| 3657 { | 4136 { |
| 3658 "gene": "DPYD", | 4137 "gene": "DPYD", |
| 3659 "chromosome": "chr1", | 4138 "chromosome": "chr1", |
| 3660 "position": 97549735, | 4139 "position": 97549735, |
| 3663 "alleles": [ | 4142 "alleles": [ |
| 3664 "c.1349C\u003eT" | 4143 "c.1349C\u003eT" |
| 3665 ], | 4144 ], |
| 3666 "phased": false, | 4145 "phased": false, |
| 3667 "wildtypeAllele": "G", | 4146 "wildtypeAllele": "G", |
| 3668 "mismatch": false | 4147 "mismatch": false, |
| 4148 "warnings": [] | |
| 3669 }, | 4149 }, |
| 3670 { | 4150 { |
| 3671 "gene": "DPYD", | 4151 "gene": "DPYD", |
| 3672 "chromosome": "chr1", | 4152 "chromosome": "chr1", |
| 3673 "position": 97573785, | 4153 "position": 97573785, |
| 3676 "alleles": [ | 4156 "alleles": [ |
| 3677 "c.1314T\u003eG" | 4157 "c.1314T\u003eG" |
| 3678 ], | 4158 ], |
| 3679 "phased": false, | 4159 "phased": false, |
| 3680 "wildtypeAllele": "A", | 4160 "wildtypeAllele": "A", |
| 3681 "mismatch": false | 4161 "mismatch": false, |
| 4162 "warnings": [] | |
| 3682 }, | 4163 }, |
| 3683 { | 4164 { |
| 3684 "gene": "DPYD", | 4165 "gene": "DPYD", |
| 3685 "chromosome": "chr1", | 4166 "chromosome": "chr1", |
| 3686 "position": 97573805, | 4167 "position": 97573805, |
| 3689 "alleles": [ | 4170 "alleles": [ |
| 3690 "c.1294G\u003eA" | 4171 "c.1294G\u003eA" |
| 3691 ], | 4172 ], |
| 3692 "phased": false, | 4173 "phased": false, |
| 3693 "wildtypeAllele": "C", | 4174 "wildtypeAllele": "C", |
| 3694 "mismatch": false | 4175 "mismatch": false, |
| 4176 "warnings": [] | |
| 3695 }, | 4177 }, |
| 3696 { | 4178 { |
| 3697 "gene": "DPYD", | 4179 "gene": "DPYD", |
| 3698 "chromosome": "chr1", | 4180 "chromosome": "chr1", |
| 3699 "position": 97573821, | 4181 "position": 97573821, |
| 3702 "alleles": [ | 4184 "alleles": [ |
| 3703 "c.1278G\u003eT" | 4185 "c.1278G\u003eT" |
| 3704 ], | 4186 ], |
| 3705 "phased": false, | 4187 "phased": false, |
| 3706 "wildtypeAllele": "C", | 4188 "wildtypeAllele": "C", |
| 3707 "mismatch": false | 4189 "mismatch": false, |
| 4190 "warnings": [] | |
| 3708 }, | 4191 }, |
| 3709 { | 4192 { |
| 3710 "gene": "DPYD", | 4193 "gene": "DPYD", |
| 3711 "chromosome": "chr1", | 4194 "chromosome": "chr1", |
| 3712 "position": 97573839, | 4195 "position": 97573839, |
| 3715 "alleles": [ | 4198 "alleles": [ |
| 3716 "c.1260T\u003eA" | 4199 "c.1260T\u003eA" |
| 3717 ], | 4200 ], |
| 3718 "phased": false, | 4201 "phased": false, |
| 3719 "wildtypeAllele": "A", | 4202 "wildtypeAllele": "A", |
| 3720 "mismatch": false | 4203 "mismatch": false, |
| 4204 "warnings": [] | |
| 3721 }, | 4205 }, |
| 3722 { | 4206 { |
| 3723 "gene": "DPYD", | 4207 "gene": "DPYD", |
| 3724 "chromosome": "chr1", | 4208 "chromosome": "chr1", |
| 3725 "position": 97573863, | 4209 "position": 97573863, |
| 3728 "alleles": [ | 4212 "alleles": [ |
| 3729 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4213 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
| 3730 ], | 4214 ], |
| 3731 "phased": false, | 4215 "phased": false, |
| 3732 "wildtypeAllele": "C", | 4216 "wildtypeAllele": "C", |
| 3733 "mismatch": false | 4217 "mismatch": false, |
| 4218 "warnings": [] | |
| 3734 }, | 4219 }, |
| 3735 { | 4220 { |
| 3736 "gene": "DPYD", | 4221 "gene": "DPYD", |
| 3737 "chromosome": "chr1", | 4222 "chromosome": "chr1", |
| 3738 "position": 97573881, | 4223 "position": 97573881, |
| 3741 "alleles": [ | 4226 "alleles": [ |
| 3742 "c.1218G\u003eA" | 4227 "c.1218G\u003eA" |
| 3743 ], | 4228 ], |
| 3744 "phased": false, | 4229 "phased": false, |
| 3745 "wildtypeAllele": "C", | 4230 "wildtypeAllele": "C", |
| 3746 "mismatch": false | 4231 "mismatch": false, |
| 4232 "warnings": [] | |
| 3747 }, | 4233 }, |
| 3748 { | 4234 { |
| 3749 "gene": "DPYD", | 4235 "gene": "DPYD", |
| 3750 "chromosome": "chr1", | 4236 "chromosome": "chr1", |
| 3751 "position": 97573918, | 4237 "position": 97573918, |
| 3754 "alleles": [ | 4240 "alleles": [ |
| 3755 "c.1181G\u003eT" | 4241 "c.1181G\u003eT" |
| 3756 ], | 4242 ], |
| 3757 "phased": false, | 4243 "phased": false, |
| 3758 "wildtypeAllele": "C", | 4244 "wildtypeAllele": "C", |
| 3759 "mismatch": false | 4245 "mismatch": false, |
| 4246 "warnings": [] | |
| 3760 }, | 4247 }, |
| 3761 { | 4248 { |
| 3762 "gene": "DPYD", | 4249 "gene": "DPYD", |
| 3763 "chromosome": "chr1", | 4250 "chromosome": "chr1", |
| 3764 "position": 97573919, | 4251 "position": 97573919, |
| 3767 "alleles": [ | 4254 "alleles": [ |
| 3768 "c.1180C\u003eT" | 4255 "c.1180C\u003eT" |
| 3769 ], | 4256 ], |
| 3770 "phased": false, | 4257 "phased": false, |
| 3771 "wildtypeAllele": "G", | 4258 "wildtypeAllele": "G", |
| 3772 "mismatch": false | 4259 "mismatch": false, |
| 4260 "warnings": [] | |
| 3773 }, | 4261 }, |
| 3774 { | 4262 { |
| 3775 "gene": "DPYD", | 4263 "gene": "DPYD", |
| 3776 "chromosome": "chr1", | 4264 "chromosome": "chr1", |
| 3777 "position": 97573943, | 4265 "position": 97573943, |
| 3780 "alleles": [ | 4268 "alleles": [ |
| 3781 "c.1156G\u003eT (*12)" | 4269 "c.1156G\u003eT (*12)" |
| 3782 ], | 4270 ], |
| 3783 "phased": false, | 4271 "phased": false, |
| 3784 "wildtypeAllele": "C", | 4272 "wildtypeAllele": "C", |
| 3785 "mismatch": false | 4273 "mismatch": false, |
| 4274 "warnings": [] | |
| 3786 }, | 4275 }, |
| 3787 { | 4276 { |
| 3788 "gene": "DPYD", | 4277 "gene": "DPYD", |
| 3789 "chromosome": "chr1", | 4278 "chromosome": "chr1", |
| 3790 "position": 97579893, | 4279 "position": 97579893, |
| 3793 "alleles": [ | 4282 "alleles": [ |
| 3794 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4283 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
| 3795 ], | 4284 ], |
| 3796 "phased": false, | 4285 "phased": false, |
| 3797 "wildtypeAllele": "G", | 4286 "wildtypeAllele": "G", |
| 3798 "mismatch": false | 4287 "mismatch": false, |
| 4288 "warnings": [] | |
| 3799 }, | 4289 }, |
| 3800 { | 4290 { |
| 3801 "gene": "DPYD", | 4291 "gene": "DPYD", |
| 3802 "chromosome": "chr1", | 4292 "chromosome": "chr1", |
| 3803 "position": 97593238, | 4293 "position": 97593238, |
| 3806 "alleles": [ | 4296 "alleles": [ |
| 3807 "c.1108A\u003eG" | 4297 "c.1108A\u003eG" |
| 3808 ], | 4298 ], |
| 3809 "phased": false, | 4299 "phased": false, |
| 3810 "wildtypeAllele": "T", | 4300 "wildtypeAllele": "T", |
| 3811 "mismatch": false | 4301 "mismatch": false, |
| 4302 "warnings": [] | |
| 3812 }, | 4303 }, |
| 3813 { | 4304 { |
| 3814 "gene": "DPYD", | 4305 "gene": "DPYD", |
| 3815 "chromosome": "chr1", | 4306 "chromosome": "chr1", |
| 3816 "position": 97593289, | 4307 "position": 97593289, |
| 3819 "alleles": [ | 4310 "alleles": [ |
| 3820 "c.1057C\u003eT" | 4311 "c.1057C\u003eT" |
| 3821 ], | 4312 ], |
| 3822 "phased": false, | 4313 "phased": false, |
| 3823 "wildtypeAllele": "G", | 4314 "wildtypeAllele": "G", |
| 3824 "mismatch": false | 4315 "mismatch": false, |
| 4316 "warnings": [] | |
| 3825 }, | 4317 }, |
| 3826 { | 4318 { |
| 3827 "gene": "DPYD", | 4319 "gene": "DPYD", |
| 3828 "chromosome": "chr1", | 4320 "chromosome": "chr1", |
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| 3833 "c.1024G\u003eA" | 4325 "c.1024G\u003eA" |
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| 3836 "wildtypeAllele": "C", | 4328 "wildtypeAllele": "C", |
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| 3838 }, | 4331 }, |
| 3839 { | 4332 { |
| 3840 "gene": "DPYD", | 4333 "gene": "DPYD", |
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| 3849 "wildtypeAllele": "C", | 4342 "wildtypeAllele": "C", |
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| 3852 { | 4346 { |
| 3853 "gene": "DPYD", | 4347 "gene": "DPYD", |
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| 3862 "wildtypeAllele": "C", | 4356 "wildtypeAllele": "C", |
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| 3865 { | 4360 { |
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| 3872 "c.934C\u003eT" | 4367 "c.934C\u003eT" |
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| 3878 { | 4374 { |
| 3879 "gene": "DPYD", | 4375 "gene": "DPYD", |
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| 3885 "c.929T\u003eC" | 4381 "c.929T\u003eC" |
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| 3888 "wildtypeAllele": "A", | 4384 "wildtypeAllele": "A", |
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| 3890 }, | 4387 }, |
| 3891 { | 4388 { |
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| 3898 "c.868A\u003eG" | 4395 "c.868A\u003eG" |
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| 3903 }, | 4401 }, |
| 3904 { | 4402 { |
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| 3911 "c.775A\u003eG" | 4409 "c.775A\u003eG" |
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| 3914 "wildtypeAllele": "T", | 4412 "wildtypeAllele": "T", |
| 3915 "mismatch": false | 4413 "mismatch": false, |
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| 3917 { | 4416 { |
| 3918 "gene": "DPYD", | 4417 "gene": "DPYD", |
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| 3924 "c.703C\u003eT (*8)" | 4423 "c.703C\u003eT (*8)" |
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| 3929 }, | 4429 }, |
| 3930 { | 4430 { |
| 3931 "gene": "DPYD", | 4431 "gene": "DPYD", |
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| 3937 "c.632A\u003eG" | 4437 "c.632A\u003eG" |
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| 3940 "wildtypeAllele": "T", | 4440 "wildtypeAllele": "T", |
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| 3943 { | 4444 { |
| 3944 "gene": "DPYD", | 4445 "gene": "DPYD", |
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| 3950 "c.601A\u003eC" | 4451 "c.601A\u003eC" |
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| 3963 "c.557A\u003eG" | 4465 "c.557A\u003eG" |
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| 3966 "wildtypeAllele": "T", | 4468 "wildtypeAllele": "T", |
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| 3969 { | 4472 { |
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| 3976 "c.525G\u003eA" | 4479 "c.525G\u003eA" |
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| 3979 "wildtypeAllele": "C", | 4482 "wildtypeAllele": "C", |
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| 3982 { | 4486 { |
| 3983 "gene": "DPYD", | 4487 "gene": "DPYD", |
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| 3989 "c.498G\u003eA" | 4493 "c.498G\u003eA" |
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| 3995 { | 4500 { |
| 3996 "gene": "DPYD", | 4501 "gene": "DPYD", |
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| 4002 "c.496A\u003eG" | 4507 "c.496A\u003eG" |
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| 4005 "wildtypeAllele": "T", | 4510 "wildtypeAllele": "T", |
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| 4008 { | 4514 { |
| 4009 "gene": "DPYD", | 4515 "gene": "DPYD", |
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| 4015 "c.451A\u003eG" | 4521 "c.451A\u003eG" |
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| 4018 "wildtypeAllele": "T", | 4524 "wildtypeAllele": "T", |
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| 4021 { | 4528 { |
| 4022 "gene": "DPYD", | 4529 "gene": "DPYD", |
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| 4028 "c.343A\u003eG" | 4535 "c.343A\u003eG" |
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| 4031 "wildtypeAllele": "T", | 4538 "wildtypeAllele": "T", |
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| 4034 { | 4542 { |
| 4035 "gene": "DPYD", | 4543 "gene": "DPYD", |
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| 4041 "c.313G\u003eA" | 4549 "c.313G\u003eA" |
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| 4047 { | 4556 { |
| 4048 "gene": "DPYD", | 4557 "gene": "DPYD", |
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| 4060 { | 4570 { |
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| 4067 "c.85T\u003eC (*9A)" | 4577 "c.85T\u003eC (*9A)" |
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| 4080 "c.62G\u003eA" | 4591 "c.62G\u003eA" |
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| 4086 { | 4598 { |
| 4087 "gene": "DPYD", | 4599 "gene": "DPYD", |
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| 4093 "c.61C\u003eT" | 4605 "c.61C\u003eT" |
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| 4096 "wildtypeAllele": "G", | 4608 "wildtypeAllele": "G", |
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| 4099 { | 4612 { |
| 4100 "gene": "DPYD", | 4613 "gene": "DPYD", |
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| 4106 "c.46C\u003eG" | 4619 "c.46C\u003eG" |
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| 4109 "wildtypeAllele": "G", | 4622 "wildtypeAllele": "G", |
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| 4111 } | 4625 } |
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| 4162 { | 4676 { |
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| 4173 "reference": true | 4687 "reference": true |
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| 4175 "gene": "IFNL3", | 4689 "gene": "IFNL3", |
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| 4183 { | 4697 { |
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| 4190 "rs12979860 variant (T)" | 4704 "rs12979860 variant (T)" |
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| 4221 }, | 4736 }, |
| 4222 "gene": "NUDT15", | 4737 "gene": "NUDT15", |
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| 4739 "Normal Metabolizer" | |
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| 4224 "variant": null, | 4741 "variant": null, |
| 4225 "lookupKey": "Normal Metabolizer", | 4742 "lookupKey": [ |
| 4743 "Normal Metabolizer" | |
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| 4226 "label": "*1/*1" | 4745 "label": "*1/*1" |
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| 4241 "reference": true | 4760 "reference": true |
| 4242 }, | 4761 }, |
| 4243 "gene": "NUDT15", | 4762 "gene": "NUDT15", |
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| 4764 "Normal Metabolizer" | |
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| 4246 "lookupKey": "Normal Metabolizer", | 4767 "lookupKey": [ |
| 4768 "Normal Metabolizer" | |
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| 4247 "label": "*1/*1" | 4770 "label": "*1/*1" |
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| 4251 { | 4774 { |
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| 4258 "*10" | 4781 "*10" |
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| 4261 "wildtypeAllele": "T", | 4784 "wildtypeAllele": "T", |
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| 4264 { | 4788 { |
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| 4277 { | 4802 { |
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| 4285 "*6", | 4810 "*6", |
| 4286 "*9" | 4811 "*9" |
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| 4289 "wildtypeAllele": "AGGAGTC", | 4814 "wildtypeAllele": "AGGAGTC", |
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| 4292 { | 4818 { |
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| 4299 "*5" | 4825 "*5" |
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| 4303 "mismatch": false | 4829 "mismatch": false, |
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| 4305 { | 4832 { |
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| 4312 "*14" | 4839 "*14" |
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| 4318 { | 4846 { |
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| 4325 "*16" | 4853 "*16" |
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| 4338 "*7" | 4867 "*7" |
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| 4340 "phased": false, | 4869 "phased": false, |
| 4341 "wildtypeAllele": "G", | 4870 "wildtypeAllele": "G", |
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| 4343 }, | 4873 }, |
| 4344 { | 4874 { |
| 4345 "gene": "NUDT15", | 4875 "gene": "NUDT15", |
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| 4351 "*8" | 4881 "*8" |
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| 4355 "mismatch": false | 4885 "mismatch": false, |
| 4886 "warnings": [] | |
| 4356 }, | 4887 }, |
| 4357 { | 4888 { |
| 4358 "gene": "NUDT15", | 4889 "gene": "NUDT15", |
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| 4360 "position": 48037885, | 4891 "position": 48037885, |
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| 4364 "*11" | 4895 "*11" |
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| 4367 "wildtypeAllele": "G", | 4898 "wildtypeAllele": "G", |
| 4368 "mismatch": false | 4899 "mismatch": false, |
| 4900 "warnings": [] | |
| 4369 }, | 4901 }, |
| 4370 { | 4902 { |
| 4371 "gene": "NUDT15", | 4903 "gene": "NUDT15", |
| 4372 "chromosome": "chr13", | 4904 "chromosome": "chr13", |
| 4373 "position": 48037902, | 4905 "position": 48037902, |
| 4376 "alleles": [ | 4908 "alleles": [ |
| 4377 "*12" | 4909 "*12" |
| 4378 ], | 4910 ], |
| 4379 "phased": false, | 4911 "phased": false, |
| 4380 "wildtypeAllele": "C", | 4912 "wildtypeAllele": "C", |
| 4381 "mismatch": false | 4913 "mismatch": false, |
| 4914 "warnings": [] | |
| 4382 }, | 4915 }, |
| 4383 { | 4916 { |
| 4384 "gene": "NUDT15", | 4917 "gene": "NUDT15", |
| 4385 "chromosome": "chr13", | 4918 "chromosome": "chr13", |
| 4386 "position": 48040977, | 4919 "position": 48040977, |
| 4389 "alleles": [ | 4922 "alleles": [ |
| 4390 "*18" | 4923 "*18" |
| 4391 ], | 4924 ], |
| 4392 "phased": false, | 4925 "phased": false, |
| 4393 "wildtypeAllele": "GA", | 4926 "wildtypeAllele": "GA", |
| 4394 "mismatch": false | 4927 "mismatch": false, |
| 4928 "warnings": [] | |
| 4395 }, | 4929 }, |
| 4396 { | 4930 { |
| 4397 "gene": "NUDT15", | 4931 "gene": "NUDT15", |
| 4398 "chromosome": "chr13", | 4932 "chromosome": "chr13", |
| 4399 "position": 48041103, | 4933 "position": 48041103, |
| 4402 "alleles": [ | 4936 "alleles": [ |
| 4403 "*13" | 4937 "*13" |
| 4404 ], | 4938 ], |
| 4405 "phased": false, | 4939 "phased": false, |
| 4406 "wildtypeAllele": "T", | 4940 "wildtypeAllele": "T", |
| 4407 "mismatch": false | 4941 "mismatch": false, |
| 4942 "warnings": [] | |
| 4408 }, | 4943 }, |
| 4409 { | 4944 { |
| 4410 "gene": "NUDT15", | 4945 "gene": "NUDT15", |
| 4411 "chromosome": "chr13", | 4946 "chromosome": "chr13", |
| 4412 "position": 48041113, | 4947 "position": 48041113, |
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| 4416 "*17" | 4951 "*17" |
| 4417 ], | 4952 ], |
| 4418 "phased": false, | 4953 "phased": false, |
| 4419 "wildtypeAllele": "G", | 4954 "wildtypeAllele": "G", |
| 4420 "mismatch": false | 4955 "mismatch": false, |
| 4956 "warnings": [] | |
| 4421 }, | 4957 }, |
| 4422 { | 4958 { |
| 4423 "gene": "NUDT15", | 4959 "gene": "NUDT15", |
| 4424 "chromosome": "chr13", | 4960 "chromosome": "chr13", |
| 4425 "position": 48045690, | 4961 "position": 48045690, |
| 4428 "alleles": [ | 4964 "alleles": [ |
| 4429 "*20" | 4965 "*20" |
| 4430 ], | 4966 ], |
| 4431 "phased": false, | 4967 "phased": false, |
| 4432 "wildtypeAllele": "C", | 4968 "wildtypeAllele": "C", |
| 4433 "mismatch": false | 4969 "mismatch": false, |
| 4970 "warnings": [] | |
| 4434 }, | 4971 }, |
| 4435 { | 4972 { |
| 4436 "gene": "NUDT15", | 4973 "gene": "NUDT15", |
| 4437 "chromosome": "chr13", | 4974 "chromosome": "chr13", |
| 4438 "position": 48045719, | 4975 "position": 48045719, |
| 4442 "*2", | 4979 "*2", |
| 4443 "*3" | 4980 "*3" |
| 4444 ], | 4981 ], |
| 4445 "phased": false, | 4982 "phased": false, |
| 4446 "wildtypeAllele": "C", | 4983 "wildtypeAllele": "C", |
| 4447 "mismatch": false | 4984 "mismatch": false, |
| 4985 "warnings": [] | |
| 4448 }, | 4986 }, |
| 4449 { | 4987 { |
| 4450 "gene": "NUDT15", | 4988 "gene": "NUDT15", |
| 4451 "chromosome": "chr13", | 4989 "chromosome": "chr13", |
| 4452 "position": 48045720, | 4990 "position": 48045720, |
| 4455 "alleles": [ | 4993 "alleles": [ |
| 4456 "*4" | 4994 "*4" |
| 4457 ], | 4995 ], |
| 4458 "phased": false, | 4996 "phased": false, |
| 4459 "wildtypeAllele": "G", | 4997 "wildtypeAllele": "G", |
| 4460 "mismatch": false | 4998 "mismatch": false, |
| 4999 "warnings": [] | |
| 4461 }, | 5000 }, |
| 4462 { | 5001 { |
| 4463 "gene": "NUDT15", | 5002 "gene": "NUDT15", |
| 4464 "chromosome": "chr13", | 5003 "chromosome": "chr13", |
| 4465 "position": 48045771, | 5004 "position": 48045771, |
| 4468 "alleles": [ | 5007 "alleles": [ |
| 4469 "*15" | 5008 "*15" |
| 4470 ], | 5009 ], |
| 4471 "phased": false, | 5010 "phased": false, |
| 4472 "wildtypeAllele": "T", | 5011 "wildtypeAllele": "T", |
| 4473 "mismatch": false | 5012 "mismatch": false, |
| 5013 "warnings": [] | |
| 4474 } | 5014 } |
| 4475 ], | 5015 ], |
| 4476 "variantsOfInterest": [], | 5016 "variantsOfInterest": [], |
| 4477 "highlightedVariants": [] | 5017 "highlightedVariants": [] |
| 4478 }, | 5018 }, |
| 4497 "name": "Reference", | 5037 "name": "Reference", |
| 4498 "function": "Normal function", | 5038 "function": "Normal function", |
| 4499 "reference": true | 5039 "reference": true |
| 4500 }, | 5040 }, |
| 4501 "gene": "RYR1", | 5041 "gene": "RYR1", |
| 4502 "phenotype": "Uncertain Susceptibility", | 5042 "phenotypes": [ |
| 5043 "Uncertain Susceptibility" | |
| 5044 ], | |
| 4503 "variant": null, | 5045 "variant": null, |
| 4504 "lookupKey": "Uncertain Susceptibility", | 5046 "lookupKey": [ |
| 5047 "Uncertain Susceptibility" | |
| 5048 ], | |
| 4505 "label": "Reference/Reference" | 5049 "label": "Reference/Reference" |
| 4506 } | 5050 } |
| 4507 ], | 5051 ], |
| 4508 "diplotypes": [ | 5052 "diplotypes": [ |
| 4509 { | 5053 { |
| 4518 "name": "Reference", | 5062 "name": "Reference", |
| 4519 "function": "Normal function", | 5063 "function": "Normal function", |
| 4520 "reference": true | 5064 "reference": true |
| 4521 }, | 5065 }, |
| 4522 "gene": "RYR1", | 5066 "gene": "RYR1", |
| 4523 "phenotype": "Uncertain Susceptibility", | 5067 "phenotypes": [ |
| 5068 "Uncertain Susceptibility" | |
| 5069 ], | |
| 4524 "variant": null, | 5070 "variant": null, |
| 4525 "lookupKey": "Uncertain Susceptibility", | 5071 "lookupKey": [ |
| 5072 "Uncertain Susceptibility" | |
| 5073 ], | |
| 4526 "label": "Reference/Reference" | 5074 "label": "Reference/Reference" |
| 4527 } | 5075 } |
| 4528 ], | 5076 ], |
| 4529 "variants": [ | 5077 "variants": [ |
| 4530 { | 5078 { |
| 4536 "alleles": [ | 5084 "alleles": [ |
| 4537 "c.103T\u003eC" | 5085 "c.103T\u003eC" |
| 4538 ], | 5086 ], |
| 4539 "phased": false, | 5087 "phased": false, |
| 4540 "wildtypeAllele": "T", | 5088 "wildtypeAllele": "T", |
| 4541 "mismatch": false | 5089 "mismatch": false, |
| 5090 "warnings": [] | |
| 4542 }, | 5091 }, |
| 4543 { | 5092 { |
| 4544 "gene": "RYR1", | 5093 "gene": "RYR1", |
| 4545 "chromosome": "chr19", | 5094 "chromosome": "chr19", |
| 4546 "position": 38440829, | 5095 "position": 38440829, |
| 4549 "alleles": [ | 5098 "alleles": [ |
| 4550 "c.130C\u003eT" | 5099 "c.130C\u003eT" |
| 4551 ], | 5100 ], |
| 4552 "phased": false, | 5101 "phased": false, |
| 4553 "wildtypeAllele": "C", | 5102 "wildtypeAllele": "C", |
| 4554 "mismatch": false | 5103 "mismatch": false, |
| 5104 "warnings": [] | |
| 4555 }, | 5105 }, |
| 4556 { | 5106 { |
| 4557 "gene": "RYR1", | 5107 "gene": "RYR1", |
| 4558 "chromosome": "chr19", | 5108 "chromosome": "chr19", |
| 4559 "position": 38444211, | 5109 "position": 38444211, |
| 4562 "alleles": [ | 5112 "alleles": [ |
| 4563 "c.487C\u003eT" | 5113 "c.487C\u003eT" |
| 4564 ], | 5114 ], |
| 4565 "phased": false, | 5115 "phased": false, |
| 4566 "wildtypeAllele": "C", | 5116 "wildtypeAllele": "C", |
| 4567 "mismatch": false | 5117 "mismatch": false, |
| 5118 "warnings": [] | |
| 4568 }, | 5119 }, |
| 4569 { | 5120 { |
| 4570 "gene": "RYR1", | 5121 "gene": "RYR1", |
| 4571 "chromosome": "chr19", | 5122 "chromosome": "chr19", |
| 4572 "position": 38444212, | 5123 "position": 38444212, |
| 4575 "alleles": [ | 5126 "alleles": [ |
| 4576 "c.488G\u003eT" | 5127 "c.488G\u003eT" |
| 4577 ], | 5128 ], |
| 4578 "phased": false, | 5129 "phased": false, |
| 4579 "wildtypeAllele": "G", | 5130 "wildtypeAllele": "G", |
| 4580 "mismatch": false | 5131 "mismatch": false, |
| 5132 "warnings": [] | |
| 4581 }, | 5133 }, |
| 4582 { | 5134 { |
| 4583 "gene": "RYR1", | 5135 "gene": "RYR1", |
| 4584 "chromosome": "chr19", | 5136 "chromosome": "chr19", |
| 4585 "position": 38446710, | 5137 "position": 38446710, |
| 4589 "c.742G\u003eA", | 5141 "c.742G\u003eA", |
| 4590 "c.742G\u003eC" | 5142 "c.742G\u003eC" |
| 4591 ], | 5143 ], |
| 4592 "phased": false, | 5144 "phased": false, |
| 4593 "wildtypeAllele": "G", | 5145 "wildtypeAllele": "G", |
| 4594 "mismatch": false | 5146 "mismatch": false, |
| 5147 "warnings": [] | |
| 4595 }, | 5148 }, |
| 4596 { | 5149 { |
| 4597 "gene": "RYR1", | 5150 "gene": "RYR1", |
| 4598 "chromosome": "chr19", | 5151 "chromosome": "chr19", |
| 4599 "position": 38448673, | 5152 "position": 38448673, |
| 4602 "alleles": [ | 5155 "alleles": [ |
| 4603 "c.982C\u003eT" | 5156 "c.982C\u003eT" |
| 4604 ], | 5157 ], |
| 4605 "phased": false, | 5158 "phased": false, |
| 4606 "wildtypeAllele": "C", | 5159 "wildtypeAllele": "C", |
| 4607 "mismatch": false | 5160 "mismatch": false, |
| 5161 "warnings": [] | |
| 4608 }, | 5162 }, |
| 4609 { | 5163 { |
| 4610 "gene": "RYR1", | 5164 "gene": "RYR1", |
| 4611 "chromosome": "chr19", | 5165 "chromosome": "chr19", |
| 4612 "position": 38448712, | 5166 "position": 38448712, |
| 4616 "c.1021G\u003eA", | 5170 "c.1021G\u003eA", |
| 4617 "c.1021G\u003eC" | 5171 "c.1021G\u003eC" |
| 4618 ], | 5172 ], |
| 4619 "phased": false, | 5173 "phased": false, |
| 4620 "wildtypeAllele": "G", | 5174 "wildtypeAllele": "G", |
| 4621 "mismatch": false | 5175 "mismatch": false, |
| 5176 "warnings": [] | |
| 4622 }, | 5177 }, |
| 4623 { | 5178 { |
| 4624 "gene": "RYR1", | 5179 "gene": "RYR1", |
| 4625 "chromosome": "chr19", | 5180 "chromosome": "chr19", |
| 4626 "position": 38451842, | 5181 "position": 38451842, |
| 4629 "alleles": [ | 5184 "alleles": [ |
| 4630 "c.1201C\u003eT" | 5185 "c.1201C\u003eT" |
| 4631 ], | 5186 ], |
| 4632 "phased": false, | 5187 "phased": false, |
| 4633 "wildtypeAllele": "C", | 5188 "wildtypeAllele": "C", |
| 4634 "mismatch": false | 5189 "mismatch": false, |
| 5190 "warnings": [] | |
| 4635 }, | 5191 }, |
| 4636 { | 5192 { |
| 4637 "gene": "RYR1", | 5193 "gene": "RYR1", |
| 4638 "chromosome": "chr19", | 5194 "chromosome": "chr19", |
| 4639 "position": 38451850, | 5195 "position": 38451850, |
| 4642 "alleles": [ | 5198 "alleles": [ |
| 4643 "c.1209C\u003eG" | 5199 "c.1209C\u003eG" |
| 4644 ], | 5200 ], |
| 4645 "phased": false, | 5201 "phased": false, |
| 4646 "wildtypeAllele": "C", | 5202 "wildtypeAllele": "C", |
| 4647 "mismatch": false | 5203 "mismatch": false, |
| 5204 "warnings": [] | |
| 4648 }, | 5205 }, |
| 4649 { | 5206 { |
| 4650 "gene": "RYR1", | 5207 "gene": "RYR1", |
| 4651 "chromosome": "chr19", | 5208 "chromosome": "chr19", |
| 4652 "position": 38455359, | 5209 "position": 38455359, |
| 4655 "alleles": [ | 5212 "alleles": [ |
| 4656 "c.1565A\u003eC" | 5213 "c.1565A\u003eC" |
| 4657 ], | 5214 ], |
| 4658 "phased": false, | 5215 "phased": false, |
| 4659 "wildtypeAllele": "A", | 5216 "wildtypeAllele": "A", |
| 4660 "mismatch": false | 5217 "mismatch": false, |
| 5218 "warnings": [] | |
| 4661 }, | 5219 }, |
| 4662 { | 5220 { |
| 4663 "gene": "RYR1", | 5221 "gene": "RYR1", |
| 4664 "chromosome": "chr19", | 5222 "chromosome": "chr19", |
| 4665 "position": 38455463, | 5223 "position": 38455463, |
| 4668 "alleles": [ | 5226 "alleles": [ |
| 4669 "c.1589G\u003eA" | 5227 "c.1589G\u003eA" |
| 4670 ], | 5228 ], |
| 4671 "phased": false, | 5229 "phased": false, |
| 4672 "wildtypeAllele": "G", | 5230 "wildtypeAllele": "G", |
| 4673 "mismatch": false | 5231 "mismatch": false, |
| 5232 "warnings": [] | |
| 4674 }, | 5233 }, |
| 4675 { | 5234 { |
| 4676 "gene": "RYR1", | 5235 "gene": "RYR1", |
| 4677 "chromosome": "chr19", | 5236 "chromosome": "chr19", |
| 4678 "position": 38455471, | 5237 "position": 38455471, |
| 4681 "alleles": [ | 5240 "alleles": [ |
| 4682 "c.1597C\u003eT" | 5241 "c.1597C\u003eT" |
| 4683 ], | 5242 ], |
| 4684 "phased": false, | 5243 "phased": false, |
| 4685 "wildtypeAllele": "C", | 5244 "wildtypeAllele": "C", |
| 4686 "mismatch": false | 5245 "mismatch": false, |
| 5246 "warnings": [] | |
| 4687 }, | 5247 }, |
| 4688 { | 5248 { |
| 4689 "gene": "RYR1", | 5249 "gene": "RYR1", |
| 4690 "chromosome": "chr19", | 5250 "chromosome": "chr19", |
| 4691 "position": 38455472, | 5251 "position": 38455472, |
| 4694 "alleles": [ | 5254 "alleles": [ |
| 4695 "c.1598G\u003eA" | 5255 "c.1598G\u003eA" |
| 4696 ], | 5256 ], |
| 4697 "phased": false, | 5257 "phased": false, |
| 4698 "wildtypeAllele": "G", | 5258 "wildtypeAllele": "G", |
| 4699 "mismatch": false | 5259 "mismatch": false, |
| 5260 "warnings": [] | |
| 4700 }, | 5261 }, |
| 4701 { | 5262 { |
| 4702 "gene": "RYR1", | 5263 "gene": "RYR1", |
| 4703 "chromosome": "chr19", | 5264 "chromosome": "chr19", |
| 4704 "position": 38455528, | 5265 "position": 38455528, |
| 4707 "alleles": [ | 5268 "alleles": [ |
| 4708 "c.1654C\u003eT" | 5269 "c.1654C\u003eT" |
| 4709 ], | 5270 ], |
| 4710 "phased": false, | 5271 "phased": false, |
| 4711 "wildtypeAllele": "C", | 5272 "wildtypeAllele": "C", |
| 4712 "mismatch": false | 5273 "mismatch": false, |
| 5274 "warnings": [] | |
| 4713 }, | 5275 }, |
| 4714 { | 5276 { |
| 4715 "gene": "RYR1", | 5277 "gene": "RYR1", |
| 4716 "chromosome": "chr19", | 5278 "chromosome": "chr19", |
| 4717 "position": 38457545, | 5279 "position": 38457545, |
| 4720 "alleles": [ | 5282 "alleles": [ |
| 4721 "c.1840C\u003eT" | 5283 "c.1840C\u003eT" |
| 4722 ], | 5284 ], |
| 4723 "phased": false, | 5285 "phased": false, |
| 4724 "wildtypeAllele": "C", | 5286 "wildtypeAllele": "C", |
| 4725 "mismatch": false | 5287 "mismatch": false, |
| 5288 "warnings": [] | |
| 4726 }, | 5289 }, |
| 4727 { | 5290 { |
| 4728 "gene": "RYR1", | 5291 "gene": "RYR1", |
| 4729 "chromosome": "chr19", | 5292 "chromosome": "chr19", |
| 4730 "position": 38457546, | 5293 "position": 38457546, |
| 4733 "alleles": [ | 5296 "alleles": [ |
| 4734 "c.1841G\u003eT" | 5297 "c.1841G\u003eT" |
| 4735 ], | 5298 ], |
| 4736 "phased": false, | 5299 "phased": false, |
| 4737 "wildtypeAllele": "G", | 5300 "wildtypeAllele": "G", |
| 4738 "mismatch": false | 5301 "mismatch": false, |
| 5302 "warnings": [] | |
| 4739 }, | 5303 }, |
| 4740 { | 5304 { |
| 4741 "gene": "RYR1", | 5305 "gene": "RYR1", |
| 4742 "chromosome": "chr19", | 5306 "chromosome": "chr19", |
| 4743 "position": 38494564, | 5307 "position": 38494564, |
| 4746 "alleles": [ | 5310 "alleles": [ |
| 4747 "c.6487C\u003eT" | 5311 "c.6487C\u003eT" |
| 4748 ], | 5312 ], |
| 4749 "phased": false, | 5313 "phased": false, |
| 4750 "wildtypeAllele": "C", | 5314 "wildtypeAllele": "C", |
| 4751 "mismatch": false | 5315 "mismatch": false, |
| 5316 "warnings": [] | |
| 4752 }, | 5317 }, |
| 4753 { | 5318 { |
| 4754 "gene": "RYR1", | 5319 "gene": "RYR1", |
| 4755 "chromosome": "chr19", | 5320 "chromosome": "chr19", |
| 4756 "position": 38494565, | 5321 "position": 38494565, |
| 4759 "alleles": [ | 5324 "alleles": [ |
| 4760 "c.6488G\u003eA" | 5325 "c.6488G\u003eA" |
| 4761 ], | 5326 ], |
| 4762 "phased": false, | 5327 "phased": false, |
| 4763 "wildtypeAllele": "G", | 5328 "wildtypeAllele": "G", |
| 4764 "mismatch": false | 5329 "mismatch": false, |
| 5330 "warnings": [] | |
| 4765 }, | 5331 }, |
| 4766 { | 5332 { |
| 4767 "gene": "RYR1", | 5333 "gene": "RYR1", |
| 4768 "chromosome": "chr19", | 5334 "chromosome": "chr19", |
| 4769 "position": 38494579, | 5335 "position": 38494579, |
| 4772 "alleles": [ | 5338 "alleles": [ |
| 4773 "c.6502G\u003eA" | 5339 "c.6502G\u003eA" |
| 4774 ], | 5340 ], |
| 4775 "phased": false, | 5341 "phased": false, |
| 4776 "wildtypeAllele": "G", | 5342 "wildtypeAllele": "G", |
| 4777 "mismatch": false | 5343 "mismatch": false, |
| 5344 "warnings": [] | |
| 4778 }, | 5345 }, |
| 4779 { | 5346 { |
| 4780 "gene": "RYR1", | 5347 "gene": "RYR1", |
| 4781 "chromosome": "chr19", | 5348 "chromosome": "chr19", |
| 4782 "position": 38496283, | 5349 "position": 38496283, |
| 4786 "c.6617C\u003eG", | 5353 "c.6617C\u003eG", |
| 4787 "c.6617C\u003eT" | 5354 "c.6617C\u003eT" |
| 4788 ], | 5355 ], |
| 4789 "phased": false, | 5356 "phased": false, |
| 4790 "wildtypeAllele": "C", | 5357 "wildtypeAllele": "C", |
| 4791 "mismatch": false | 5358 "mismatch": false, |
| 5359 "warnings": [] | |
| 4792 }, | 5360 }, |
| 4793 { | 5361 { |
| 4794 "gene": "RYR1", | 5362 "gene": "RYR1", |
| 4795 "chromosome": "chr19", | 5363 "chromosome": "chr19", |
| 4796 "position": 38499223, | 5364 "position": 38499223, |
| 4799 "alleles": [ | 5367 "alleles": [ |
| 4800 "c.7007G\u003eA" | 5368 "c.7007G\u003eA" |
| 4801 ], | 5369 ], |
| 4802 "phased": false, | 5370 "phased": false, |
| 4803 "wildtypeAllele": "G", | 5371 "wildtypeAllele": "G", |
| 4804 "mismatch": false | 5372 "mismatch": false, |
| 5373 "warnings": [] | |
| 4805 }, | 5374 }, |
| 4806 { | 5375 { |
| 4807 "gene": "RYR1", | 5376 "gene": "RYR1", |
| 4808 "chromosome": "chr19", | 5377 "chromosome": "chr19", |
| 4809 "position": 38499644, | 5378 "position": 38499644, |
| 4812 "alleles": [ | 5381 "alleles": [ |
| 4813 "c.7042_7044delGAG" | 5382 "c.7042_7044delGAG" |
| 4814 ], | 5383 ], |
| 4815 "phased": false, | 5384 "phased": false, |
| 4816 "wildtypeAllele": "TGGA", | 5385 "wildtypeAllele": "TGGA", |
| 4817 "mismatch": false | 5386 "mismatch": false, |
| 5387 "warnings": [] | |
| 4818 }, | 5388 }, |
| 4819 { | 5389 { |
| 4820 "gene": "RYR1", | 5390 "gene": "RYR1", |
| 4821 "chromosome": "chr19", | 5391 "chromosome": "chr19", |
| 4822 "position": 38499655, | 5392 "position": 38499655, |
| 4825 "alleles": [ | 5395 "alleles": [ |
| 4826 "c.7048G\u003eA" | 5396 "c.7048G\u003eA" |
| 4827 ], | 5397 ], |
| 4828 "phased": false, | 5398 "phased": false, |
| 4829 "wildtypeAllele": "G", | 5399 "wildtypeAllele": "G", |
| 4830 "mismatch": false | 5400 "mismatch": false, |
| 5401 "warnings": [] | |
| 4831 }, | 5402 }, |
| 4832 { | 5403 { |
| 4833 "gene": "RYR1", | 5404 "gene": "RYR1", |
| 4834 "chromosome": "chr19", | 5405 "chromosome": "chr19", |
| 4835 "position": 38499670, | 5406 "position": 38499670, |
| 4838 "alleles": [ | 5409 "alleles": [ |
| 4839 "c.7063C\u003eT" | 5410 "c.7063C\u003eT" |
| 4840 ], | 5411 ], |
| 4841 "phased": false, | 5412 "phased": false, |
| 4842 "wildtypeAllele": "C", | 5413 "wildtypeAllele": "C", |
| 4843 "mismatch": false | 5414 "mismatch": false, |
| 5415 "warnings": [] | |
| 4844 }, | 5416 }, |
| 4845 { | 5417 { |
| 4846 "gene": "RYR1", | 5418 "gene": "RYR1", |
| 4847 "chromosome": "chr19", | 5419 "chromosome": "chr19", |
| 4848 "position": 38499731, | 5420 "position": 38499731, |
| 4851 "alleles": [ | 5423 "alleles": [ |
| 4852 "c.7124G\u003eC" | 5424 "c.7124G\u003eC" |
| 4853 ], | 5425 ], |
| 4854 "phased": false, | 5426 "phased": false, |
| 4855 "wildtypeAllele": "G", | 5427 "wildtypeAllele": "G", |
| 4856 "mismatch": false | 5428 "mismatch": false, |
| 5429 "warnings": [] | |
| 4857 }, | 5430 }, |
| 4858 { | 5431 { |
| 4859 "gene": "RYR1", | 5432 "gene": "RYR1", |
| 4860 "chromosome": "chr19", | 5433 "chromosome": "chr19", |
| 4861 "position": 38499975, | 5434 "position": 38499975, |
| 4864 "alleles": [ | 5437 "alleles": [ |
| 4865 "c.7282G\u003eA" | 5438 "c.7282G\u003eA" |
| 4866 ], | 5439 ], |
| 4867 "phased": false, | 5440 "phased": false, |
| 4868 "wildtypeAllele": "G", | 5441 "wildtypeAllele": "G", |
| 4869 "mismatch": false | 5442 "mismatch": false, |
| 5443 "warnings": [] | |
| 4870 }, | 5444 }, |
| 4871 { | 5445 { |
| 4872 "gene": "RYR1", | 5446 "gene": "RYR1", |
| 4873 "chromosome": "chr19", | 5447 "chromosome": "chr19", |
| 4874 "position": 38499993, | 5448 "position": 38499993, |
| 4877 "alleles": [ | 5451 "alleles": [ |
| 4878 "c.7300G\u003eA" | 5452 "c.7300G\u003eA" |
| 4879 ], | 5453 ], |
| 4880 "phased": false, | 5454 "phased": false, |
| 4881 "wildtypeAllele": "G", | 5455 "wildtypeAllele": "G", |
| 4882 "mismatch": false | 5456 "mismatch": false, |
| 5457 "warnings": [] | |
| 4883 }, | 5458 }, |
| 4884 { | 5459 { |
| 4885 "gene": "RYR1", | 5460 "gene": "RYR1", |
| 4886 "chromosome": "chr19", | 5461 "chromosome": "chr19", |
| 4887 "position": 38499997, | 5462 "position": 38499997, |
| 4890 "alleles": [ | 5465 "alleles": [ |
| 4891 "c.7304G\u003eA" | 5466 "c.7304G\u003eA" |
| 4892 ], | 5467 ], |
| 4893 "phased": false, | 5468 "phased": false, |
| 4894 "wildtypeAllele": "G", | 5469 "wildtypeAllele": "G", |
| 4895 "mismatch": false | 5470 "mismatch": false, |
| 5471 "warnings": [] | |
| 4896 }, | 5472 }, |
| 4897 { | 5473 { |
| 4898 "gene": "RYR1", | 5474 "gene": "RYR1", |
| 4899 "chromosome": "chr19", | 5475 "chromosome": "chr19", |
| 4900 "position": 38500636, | 5476 "position": 38500636, |
| 4903 "alleles": [ | 5479 "alleles": [ |
| 4904 "c.7354C\u003eT" | 5480 "c.7354C\u003eT" |
| 4905 ], | 5481 ], |
| 4906 "phased": false, | 5482 "phased": false, |
| 4907 "wildtypeAllele": "C", | 5483 "wildtypeAllele": "C", |
| 4908 "mismatch": false | 5484 "mismatch": false, |
| 5485 "warnings": [] | |
| 4909 }, | 5486 }, |
| 4910 { | 5487 { |
| 4911 "gene": "RYR1", | 5488 "gene": "RYR1", |
| 4912 "chromosome": "chr19", | 5489 "chromosome": "chr19", |
| 4913 "position": 38500642, | 5490 "position": 38500642, |
| 4916 "alleles": [ | 5493 "alleles": [ |
| 4917 "c.7360C\u003eT" | 5494 "c.7360C\u003eT" |
| 4918 ], | 5495 ], |
| 4919 "phased": false, | 5496 "phased": false, |
| 4920 "wildtypeAllele": "C", | 5497 "wildtypeAllele": "C", |
| 4921 "mismatch": false | 5498 "mismatch": false, |
| 5499 "warnings": [] | |
| 4922 }, | 5500 }, |
| 4923 { | 5501 { |
| 4924 "gene": "RYR1", | 5502 "gene": "RYR1", |
| 4925 "chromosome": "chr19", | 5503 "chromosome": "chr19", |
| 4926 "position": 38500643, | 5504 "position": 38500643, |
| 4929 "alleles": [ | 5507 "alleles": [ |
| 4930 "c.7361G\u003eA" | 5508 "c.7361G\u003eA" |
| 4931 ], | 5509 ], |
| 4932 "phased": false, | 5510 "phased": false, |
| 4933 "wildtypeAllele": "G", | 5511 "wildtypeAllele": "G", |
| 4934 "mismatch": false | 5512 "mismatch": false, |
| 5513 "warnings": [] | |
| 4935 }, | 5514 }, |
| 4936 { | 5515 { |
| 4937 "gene": "RYR1", | 5516 "gene": "RYR1", |
| 4938 "chromosome": "chr19", | 5517 "chromosome": "chr19", |
| 4939 "position": 38500654, | 5518 "position": 38500654, |
| 4942 "alleles": [ | 5521 "alleles": [ |
| 4943 "c.7372C\u003eT" | 5522 "c.7372C\u003eT" |
| 4944 ], | 5523 ], |
| 4945 "phased": false, | 5524 "phased": false, |
| 4946 "wildtypeAllele": "C", | 5525 "wildtypeAllele": "C", |
| 4947 "mismatch": false | 5526 "mismatch": false, |
| 5527 "warnings": [] | |
| 4948 }, | 5528 }, |
| 4949 { | 5529 { |
| 4950 "gene": "RYR1", | 5530 "gene": "RYR1", |
| 4951 "chromosome": "chr19", | 5531 "chromosome": "chr19", |
| 4952 "position": 38500655, | 5532 "position": 38500655, |
| 4955 "alleles": [ | 5535 "alleles": [ |
| 4956 "c.7373G\u003eA" | 5536 "c.7373G\u003eA" |
| 4957 ], | 5537 ], |
| 4958 "phased": false, | 5538 "phased": false, |
| 4959 "wildtypeAllele": "G", | 5539 "wildtypeAllele": "G", |
| 4960 "mismatch": false | 5540 "mismatch": false, |
| 5541 "warnings": [] | |
| 4961 }, | 5542 }, |
| 4962 { | 5543 { |
| 4963 "gene": "RYR1", | 5544 "gene": "RYR1", |
| 4964 "chromosome": "chr19", | 5545 "chromosome": "chr19", |
| 4965 "position": 38500898, | 5546 "position": 38500898, |
| 4969 "c.7522C\u003eG", | 5550 "c.7522C\u003eG", |
| 4970 "c.7522C\u003eT" | 5551 "c.7522C\u003eT" |
| 4971 ], | 5552 ], |
| 4972 "phased": false, | 5553 "phased": false, |
| 4973 "wildtypeAllele": "C", | 5554 "wildtypeAllele": "C", |
| 4974 "mismatch": false | 5555 "mismatch": false, |
| 5556 "warnings": [] | |
| 4975 }, | 5557 }, |
| 4976 { | 5558 { |
| 4977 "gene": "RYR1", | 5559 "gene": "RYR1", |
| 4978 "chromosome": "chr19", | 5560 "chromosome": "chr19", |
| 4979 "position": 38500899, | 5561 "position": 38500899, |
| 4982 "alleles": [ | 5564 "alleles": [ |
| 4983 "c.7523G\u003eA" | 5565 "c.7523G\u003eA" |
| 4984 ], | 5566 ], |
| 4985 "phased": false, | 5567 "phased": false, |
| 4986 "wildtypeAllele": "G", | 5568 "wildtypeAllele": "G", |
| 4987 "mismatch": false | 5569 "mismatch": false, |
| 5570 "warnings": [] | |
| 4988 }, | 5571 }, |
| 4989 { | 5572 { |
| 4990 "gene": "RYR1", | 5573 "gene": "RYR1", |
| 4991 "chromosome": "chr19", | 5574 "chromosome": "chr19", |
| 4992 "position": 38512321, | 5575 "position": 38512321, |
| 4995 "alleles": [ | 5578 "alleles": [ |
| 4996 "c.9310G\u003eA" | 5579 "c.9310G\u003eA" |
| 4997 ], | 5580 ], |
| 4998 "phased": false, | 5581 "phased": false, |
| 4999 "wildtypeAllele": "G", | 5582 "wildtypeAllele": "G", |
| 5000 "mismatch": false | 5583 "mismatch": false, |
| 5584 "warnings": [] | |
| 5001 }, | 5585 }, |
| 5002 { | 5586 { |
| 5003 "gene": "RYR1", | 5587 "gene": "RYR1", |
| 5004 "chromosome": "chr19", | 5588 "chromosome": "chr19", |
| 5005 "position": 38543832, | 5589 "position": 38543832, |
| 5008 "alleles": [ | 5592 "alleles": [ |
| 5009 "c.11969G\u003eT" | 5593 "c.11969G\u003eT" |
| 5010 ], | 5594 ], |
| 5011 "phased": false, | 5595 "phased": false, |
| 5012 "wildtypeAllele": "G", | 5596 "wildtypeAllele": "G", |
| 5013 "mismatch": false | 5597 "mismatch": false, |
| 5598 "warnings": [] | |
| 5014 }, | 5599 }, |
| 5015 { | 5600 { |
| 5016 "gene": "RYR1", | 5601 "gene": "RYR1", |
| 5017 "chromosome": "chr19", | 5602 "chromosome": "chr19", |
| 5018 "position": 38580004, | 5603 "position": 38580004, |
| 5021 "alleles": [ | 5606 "alleles": [ |
| 5022 "c.14387A\u003eG" | 5607 "c.14387A\u003eG" |
| 5023 ], | 5608 ], |
| 5024 "phased": false, | 5609 "phased": false, |
| 5025 "wildtypeAllele": "A", | 5610 "wildtypeAllele": "A", |
| 5026 "mismatch": false | 5611 "mismatch": false, |
| 5612 "warnings": [] | |
| 5027 }, | 5613 }, |
| 5028 { | 5614 { |
| 5029 "gene": "RYR1", | 5615 "gene": "RYR1", |
| 5030 "chromosome": "chr19", | 5616 "chromosome": "chr19", |
| 5031 "position": 38580094, | 5617 "position": 38580094, |
| 5034 "alleles": [ | 5620 "alleles": [ |
| 5035 "c.14477C\u003eT" | 5621 "c.14477C\u003eT" |
| 5036 ], | 5622 ], |
| 5037 "phased": false, | 5623 "phased": false, |
| 5038 "wildtypeAllele": "C", | 5624 "wildtypeAllele": "C", |
| 5039 "mismatch": false | 5625 "mismatch": false, |
| 5626 "warnings": [] | |
| 5040 }, | 5627 }, |
| 5041 { | 5628 { |
| 5042 "gene": "RYR1", | 5629 "gene": "RYR1", |
| 5043 "chromosome": "chr19", | 5630 "chromosome": "chr19", |
| 5044 "position": 38580114, | 5631 "position": 38580114, |
| 5047 "alleles": [ | 5634 "alleles": [ |
| 5048 "c.14497C\u003eT" | 5635 "c.14497C\u003eT" |
| 5049 ], | 5636 ], |
| 5050 "phased": false, | 5637 "phased": false, |
| 5051 "wildtypeAllele": "C", | 5638 "wildtypeAllele": "C", |
| 5052 "mismatch": false | 5639 "mismatch": false, |
| 5640 "warnings": [] | |
| 5053 }, | 5641 }, |
| 5054 { | 5642 { |
| 5055 "gene": "RYR1", | 5643 "gene": "RYR1", |
| 5056 "chromosome": "chr19", | 5644 "chromosome": "chr19", |
| 5057 "position": 38580370, | 5645 "position": 38580370, |
| 5060 "alleles": [ | 5648 "alleles": [ |
| 5061 "c.14512C\u003eG" | 5649 "c.14512C\u003eG" |
| 5062 ], | 5650 ], |
| 5063 "phased": false, | 5651 "phased": false, |
| 5064 "wildtypeAllele": "C", | 5652 "wildtypeAllele": "C", |
| 5065 "mismatch": false | 5653 "mismatch": false, |
| 5654 "warnings": [] | |
| 5066 }, | 5655 }, |
| 5067 { | 5656 { |
| 5068 "gene": "RYR1", | 5657 "gene": "RYR1", |
| 5069 "chromosome": "chr19", | 5658 "chromosome": "chr19", |
| 5070 "position": 38580403, | 5659 "position": 38580403, |
| 5073 "alleles": [ | 5662 "alleles": [ |
| 5074 "c.14545G\u003eA" | 5663 "c.14545G\u003eA" |
| 5075 ], | 5664 ], |
| 5076 "phased": false, | 5665 "phased": false, |
| 5077 "wildtypeAllele": "G", | 5666 "wildtypeAllele": "G", |
| 5078 "mismatch": false | 5667 "mismatch": false, |
| 5668 "warnings": [] | |
| 5079 }, | 5669 }, |
| 5080 { | 5670 { |
| 5081 "gene": "RYR1", | 5671 "gene": "RYR1", |
| 5082 "chromosome": "chr19", | 5672 "chromosome": "chr19", |
| 5083 "position": 38580440, | 5673 "position": 38580440, |
| 5086 "alleles": [ | 5676 "alleles": [ |
| 5087 "c.14582G\u003eA" | 5677 "c.14582G\u003eA" |
| 5088 ], | 5678 ], |
| 5089 "phased": false, | 5679 "phased": false, |
| 5090 "wildtypeAllele": "G", | 5680 "wildtypeAllele": "G", |
| 5091 "mismatch": false | 5681 "mismatch": false, |
| 5682 "warnings": [] | |
| 5092 }, | 5683 }, |
| 5093 { | 5684 { |
| 5094 "gene": "RYR1", | 5685 "gene": "RYR1", |
| 5095 "chromosome": "chr19", | 5686 "chromosome": "chr19", |
| 5096 "position": 38584989, | 5687 "position": 38584989, |
| 5099 "alleles": [ | 5690 "alleles": [ |
| 5100 "c.14693T\u003eC" | 5691 "c.14693T\u003eC" |
| 5101 ], | 5692 ], |
| 5102 "phased": false, | 5693 "phased": false, |
| 5103 "wildtypeAllele": "T", | 5694 "wildtypeAllele": "T", |
| 5104 "mismatch": false | 5695 "mismatch": false, |
| 5696 "warnings": [] | |
| 5105 } | 5697 } |
| 5106 ], | 5698 ], |
| 5107 "variantsOfInterest": [], | 5699 "variantsOfInterest": [], |
| 5108 "highlightedVariants": [] | 5700 "highlightedVariants": [] |
| 5109 }, | 5701 }, |
| 5132 "name": "*1", | 5724 "name": "*1", |
| 5133 "function": "Normal function", | 5725 "function": "Normal function", |
| 5134 "reference": true | 5726 "reference": true |
| 5135 }, | 5727 }, |
| 5136 "gene": "SLCO1B1", | 5728 "gene": "SLCO1B1", |
| 5137 "phenotype": "Normal function", | 5729 "phenotypes": [ |
| 5730 "Normal Function" | |
| 5731 ], | |
| 5138 "variant": null, | 5732 "variant": null, |
| 5139 "lookupKey": "Normal function", | 5733 "lookupKey": [ |
| 5734 "Normal Function" | |
| 5735 ], | |
| 5140 "label": "*1/*1" | 5736 "label": "*1/*1" |
| 5141 } | 5737 } |
| 5142 ], | 5738 ], |
| 5143 "diplotypes": [ | 5739 "diplotypes": [ |
| 5144 { | 5740 { |
| 5153 "name": "*1", | 5749 "name": "*1", |
| 5154 "function": "Normal function", | 5750 "function": "Normal function", |
| 5155 "reference": true | 5751 "reference": true |
| 5156 }, | 5752 }, |
| 5157 "gene": "SLCO1B1", | 5753 "gene": "SLCO1B1", |
| 5158 "phenotype": "Normal function", | 5754 "phenotypes": [ |
| 5755 "Normal Function" | |
| 5756 ], | |
| 5159 "variant": null, | 5757 "variant": null, |
| 5160 "lookupKey": "Normal function", | 5758 "lookupKey": [ |
| 5759 "Normal Function" | |
| 5760 ], | |
| 5161 "label": "*1/*1" | 5761 "label": "*1/*1" |
| 5162 } | 5762 } |
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| 5164 "variants": [ | 5764 "variants": [ |
| 5165 { | 5765 { |
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| 5172 "*33" | 5772 "*33" |
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| 5175 "wildtypeAllele": "C", | 5775 "wildtypeAllele": "C", |
| 5176 "mismatch": false | 5776 "mismatch": false, |
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| 5177 }, | 5778 }, |
| 5178 { | 5779 { |
| 5179 "gene": "SLCO1B1", | 5780 "gene": "SLCO1B1", |
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| 5181 "position": 21172776, | 5782 "position": 21172776, |
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| 5185 "*23" | 5786 "*23" |
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| 5188 "wildtypeAllele": "G", | 5789 "wildtypeAllele": "G", |
| 5189 "mismatch": false | 5790 "mismatch": false, |
| 5791 "warnings": [] | |
| 5190 }, | 5792 }, |
| 5191 { | 5793 { |
| 5192 "gene": "SLCO1B1", | 5794 "gene": "SLCO1B1", |
| 5193 "chromosome": "chr12", | 5795 "chromosome": "chr12", |
| 5194 "position": 21172782, | 5796 "position": 21172782, |
| 5198 "*2", | 5800 "*2", |
| 5199 "*12" | 5801 "*12" |
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| 5202 "wildtypeAllele": "T", | 5804 "wildtypeAllele": "T", |
| 5203 "mismatch": false | 5805 "mismatch": false, |
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| 5204 }, | 5807 }, |
| 5205 { | 5808 { |
| 5206 "gene": "SLCO1B1", | 5809 "gene": "SLCO1B1", |
| 5207 "chromosome": "chr12", | 5810 "chromosome": "chr12", |
| 5208 "position": 21174595, | 5811 "position": 21174595, |
| 5212 "*3", | 5815 "*3", |
| 5213 "*13" | 5816 "*13" |
| 5214 ], | 5817 ], |
| 5215 "phased": false, | 5818 "phased": false, |
| 5216 "wildtypeAllele": "T", | 5819 "wildtypeAllele": "T", |
| 5217 "mismatch": false | 5820 "mismatch": false, |
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| 5218 }, | 5822 }, |
| 5219 { | 5823 { |
| 5220 "gene": "SLCO1B1", | 5824 "gene": "SLCO1B1", |
| 5221 "chromosome": "chr12", | 5825 "chromosome": "chr12", |
| 5222 "position": 21176804, | 5826 "position": 21176804, |
| 5243 "*46", | 5847 "*46", |
| 5244 "*47" | 5848 "*47" |
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| 5247 "wildtypeAllele": "A", | 5851 "wildtypeAllele": "A", |
| 5248 "mismatch": false | 5852 "mismatch": false, |
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| 5249 }, | 5854 }, |
| 5250 { | 5855 { |
| 5251 "gene": "SLCO1B1", | 5856 "gene": "SLCO1B1", |
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| 5257 "*16" | 5862 "*16" |
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| 5259 "phased": false, | 5864 "phased": false, |
| 5260 "wildtypeAllele": "A", | 5865 "wildtypeAllele": "A", |
| 5261 "mismatch": false | 5866 "mismatch": false, |
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| 5262 }, | 5868 }, |
| 5263 { | 5869 { |
| 5264 "gene": "SLCO1B1", | 5870 "gene": "SLCO1B1", |
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| 5266 "position": 21176879, | 5872 "position": 21176879, |
| 5273 "*32", | 5879 "*32", |
| 5274 "*43" | 5880 "*43" |
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| 5277 "wildtypeAllele": "C", | 5883 "wildtypeAllele": "C", |
| 5278 "mismatch": false | 5884 "mismatch": false, |
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| 5279 }, | 5886 }, |
| 5280 { | 5887 { |
| 5281 "gene": "SLCO1B1", | 5888 "gene": "SLCO1B1", |
| 5282 "chromosome": "chr12", | 5889 "chromosome": "chr12", |
| 5283 "position": 21176883, | 5890 "position": 21176883, |
| 5287 "*3", | 5894 "*3", |
| 5288 "*13" | 5895 "*13" |
| 5289 ], | 5896 ], |
| 5290 "phased": false, | 5897 "phased": false, |
| 5291 "wildtypeAllele": "A", | 5898 "wildtypeAllele": "A", |
| 5292 "mismatch": false | 5899 "mismatch": false, |
| 5900 "warnings": [] | |
| 5293 }, | 5901 }, |
| 5294 { | 5902 { |
| 5295 "gene": "SLCO1B1", | 5903 "gene": "SLCO1B1", |
| 5296 "chromosome": "chr12", | 5904 "chromosome": "chr12", |
| 5297 "position": 21178615, | 5905 "position": 21178615, |
| 5304 "*46", | 5912 "*46", |
| 5305 "*47" | 5913 "*47" |
| 5306 ], | 5914 ], |
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| 5308 "wildtypeAllele": "T", | 5916 "wildtypeAllele": "T", |
| 5309 "mismatch": false | 5917 "mismatch": false, |
| 5918 "warnings": [] | |
| 5310 }, | 5919 }, |
| 5311 { | 5920 { |
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| 5324 { | 5934 { |
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| 5358 { | 5970 { |
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| 5371 { | 5984 { |
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| 5384 { | 5998 { |
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| 5397 { | 6012 { |
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| 5404 "*7" | 6019 "*7" |
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| 5410 { | 6026 { |
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| 5423 { | 6040 { |
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| 5430 "*8" | 6047 "*8" |
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| 5436 { | 6054 { |
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| 6067 "warnings": [] | |
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| 5450 { | 6069 { |
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| 6083 "warnings": [] | |
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| 5465 { | 6085 { |
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| 5479 { | 6100 { |
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| 5493 { | 6115 { |
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| 5506 { | 6129 { |
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| 5519 { | 6143 { |
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| 5530 "mismatch": false | 6154 "mismatch": false, |
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| 5532 { | 6157 { |
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| 5539 "*41" | 6164 "*41" |
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| 5542 "wildtypeAllele": "G", | 6167 "wildtypeAllele": "G", |
| 5543 "mismatch": false | 6168 "mismatch": false, |
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| 5545 { | 6171 { |
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| 5552 "*42" | 6178 "*42" |
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| 5556 "mismatch": false | 6182 "mismatch": false, |
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| 5558 { | 6185 { |
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| 5565 "*39" | 6192 "*39" |
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| 5569 "mismatch": false | 6196 "mismatch": false, |
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| 5571 { | 6199 { |
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| 5578 "*47" | 6206 "*47" |
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| 5584 { | 6213 { |
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| 5598 { | 6228 { |
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| 5615 "rs4149056T/rs4149056T" | 6246 "rs4149056T/rs4149056T" |
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| 6289 "Normal Metabolizer" | |
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| 6293 "Normal Metabolizer" | |
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| 5660 "label": "*1/*1" | 6295 "label": "*1/*1" |
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| 5664 { | 6299 { |
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| 5675 "reference": true | 6310 "reference": true |
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| 6314 "Normal Metabolizer" | |
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| 5680 "lookupKey": "Normal Metabolizer", | 6317 "lookupKey": [ |
| 6318 "Normal Metabolizer" | |
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| 5685 { | 6324 { |
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| 5697 "wildtypeAllele": "T", | 6336 "wildtypeAllele": "T", |
| 5698 "mismatch": false | 6337 "mismatch": false, |
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| 5700 { | 6340 { |
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| 5707 "*20" | 6347 "*20" |
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| 5710 "wildtypeAllele": "T", | 6350 "wildtypeAllele": "T", |
| 5711 "mismatch": false | 6351 "mismatch": false, |
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| 5712 }, | 6353 }, |
| 5713 { | 6354 { |
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| 5720 "*7" | 6361 "*7" |
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| 5723 "wildtypeAllele": "A", | 6364 "wildtypeAllele": "A", |
| 5724 "mismatch": false | 6365 "mismatch": false, |
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| 5726 { | 6368 { |
| 5727 "gene": "TPMT", | 6369 "gene": "TPMT", |
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| 5733 "*40" | 6375 "*40" |
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| 5736 "wildtypeAllele": "C", | 6378 "wildtypeAllele": "C", |
| 5737 "mismatch": false | 6379 "mismatch": false, |
| 6380 "warnings": [] | |
| 5738 }, | 6381 }, |
| 5739 { | 6382 { |
| 5740 "gene": "TPMT", | 6383 "gene": "TPMT", |
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| 5746 "*37" | 6389 "*37" |
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| 5749 "wildtypeAllele": "A", | 6392 "wildtypeAllele": "A", |
| 5750 "mismatch": false | 6393 "mismatch": false, |
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| 5751 }, | 6395 }, |
| 5752 { | 6396 { |
| 5753 "gene": "TPMT", | 6397 "gene": "TPMT", |
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| 5759 "*8" | 6403 "*8" |
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| 5762 "wildtypeAllele": "C", | 6406 "wildtypeAllele": "C", |
| 5763 "mismatch": false | 6407 "mismatch": false, |
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| 5764 }, | 6409 }, |
| 5765 { | 6410 { |
| 5766 "gene": "TPMT", | 6411 "gene": "TPMT", |
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| 5772 "*25" | 6417 "*25" |
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| 5775 "wildtypeAllele": "A", | 6420 "wildtypeAllele": "A", |
| 5776 "mismatch": false | 6421 "mismatch": false, |
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| 5777 }, | 6423 }, |
| 5778 { | 6424 { |
| 5779 "gene": "TPMT", | 6425 "gene": "TPMT", |
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| 5785 "*4" | 6431 "*4" |
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| 5788 "wildtypeAllele": "C", | 6434 "wildtypeAllele": "C", |
| 5789 "mismatch": false | 6435 "mismatch": false, |
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| 5790 }, | 6437 }, |
| 5791 { | 6438 { |
| 5792 "gene": "TPMT", | 6439 "gene": "TPMT", |
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| 5798 "*26" | 6445 "*26" |
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| 5801 "wildtypeAllele": "A", | 6448 "wildtypeAllele": "A", |
| 5802 "mismatch": false | 6449 "mismatch": false, |
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| 5803 }, | 6451 }, |
| 5804 { | 6452 { |
| 5805 "gene": "TPMT", | 6453 "gene": "TPMT", |
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| 5811 "*31" | 6459 "*31" |
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| 5814 "wildtypeAllele": "A", | 6462 "wildtypeAllele": "A", |
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| 5817 { | 6466 { |
| 5818 "gene": "TPMT", | 6467 "gene": "TPMT", |
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| 5824 "*36" | 6473 "*36" |
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| 5827 "wildtypeAllele": "C", | 6476 "wildtypeAllele": "C", |
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| 5830 { | 6480 { |
| 5831 "gene": "TPMT", | 6481 "gene": "TPMT", |
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| 5837 "*6" | 6487 "*6" |
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| 5869 { | 6522 { |
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| 5882 { | 6536 { |
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| 5895 { | 6550 { |
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| 5908 { | 6564 { |
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| 5975 { | 6636 { |
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| 6357 "alleles": [ | 7049 "alleles": [ |
| 6358 "*6" | 7050 "*6" |
| 6359 ], | 7051 ], |
| 6360 "phased": false, | 7052 "phased": false, |
| 6361 "wildtypeAllele": "G", | 7053 "wildtypeAllele": "G", |
| 6362 "mismatch": false | 7054 "mismatch": false, |
| 7055 "warnings": [] | |
| 6363 }, | 7056 }, |
| 6364 { | 7057 { |
| 6365 "gene": "UGT1A1", | 7058 "gene": "UGT1A1", |
| 6366 "chromosome": "chr2", | 7059 "chromosome": "chr2", |
| 6367 "position": 233760973, | 7060 "position": 233760973, |
| 6370 "alleles": [ | 7063 "alleles": [ |
| 6371 "*27" | 7064 "*27" |
| 6372 ], | 7065 ], |
| 6373 "phased": false, | 7066 "phased": false, |
| 6374 "wildtypeAllele": "C", | 7067 "wildtypeAllele": "C", |
| 6375 "mismatch": false | 7068 "mismatch": false, |
| 7069 "warnings": [] | |
| 6376 } | 7070 } |
| 6377 ], | 7071 ], |
| 6378 "variantsOfInterest": [], | 7072 "variantsOfInterest": [], |
| 6379 "highlightedVariants": [] | 7073 "highlightedVariants": [] |
| 6380 }, | 7074 }, |
| 6430 "name": "rs9923231 reference (C)", | 7124 "name": "rs9923231 reference (C)", |
| 6431 "function": null, | 7125 "function": null, |
| 6432 "reference": true | 7126 "reference": true |
| 6433 }, | 7127 }, |
| 6434 "gene": "VKORC1", | 7128 "gene": "VKORC1", |
| 6435 "phenotype": null, | 7129 "phenotypes": [], |
| 6436 "variant": null, | 7130 "variant": null, |
| 6437 "lookupKey": null, | 7131 "lookupKey": [], |
| 6438 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7132 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
| 6439 } | 7133 } |
| 6440 ], | 7134 ], |
| 6441 "diplotypes": [ | 7135 "diplotypes": [ |
| 6442 { | 7136 { |
| 6451 "name": "rs9923231 reference (C)", | 7145 "name": "rs9923231 reference (C)", |
| 6452 "function": null, | 7146 "function": null, |
| 6453 "reference": true | 7147 "reference": true |
| 6454 }, | 7148 }, |
| 6455 "gene": "VKORC1", | 7149 "gene": "VKORC1", |
| 6456 "phenotype": null, | 7150 "phenotypes": [], |
| 6457 "variant": null, | 7151 "variant": null, |
| 6458 "lookupKey": null, | 7152 "lookupKey": [], |
| 6459 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7153 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
| 6460 } | 7154 } |
| 6461 ], | 7155 ], |
| 6462 "variants": [ | 7156 "variants": [ |
| 6463 { | 7157 { |
| 6469 "alleles": [ | 7163 "alleles": [ |
| 6470 "rs9923231 variant (T)" | 7164 "rs9923231 variant (T)" |
| 6471 ], | 7165 ], |
| 6472 "phased": false, | 7166 "phased": false, |
| 6473 "wildtypeAllele": "C", | 7167 "wildtypeAllele": "C", |
| 6474 "mismatch": false | 7168 "mismatch": false, |
| 7169 "warnings": [] | |
| 6475 } | 7170 } |
| 6476 ], | 7171 ], |
| 6477 "variantsOfInterest": [], | 7172 "variantsOfInterest": [], |
| 6478 "highlightedVariants": [] | 7173 "highlightedVariants": [] |
| 6479 } | 7174 } |