V2 av_gene
255,731 rows · 29 columns
| GENEID | TUMOURID | PATIENTID | GENE_DESC | GENE | COUNT_TESTS | COUNT_RESULTS | COUNT_DATE | ALL_TESTSTATUSES | OVERALL_TS | NO_OF_AB_GATS | DNASEQ_GAT | METHYL_GAT | EXP_GAT | COPYNO_GAT | FUS_TRANS_GAT | ABNORMAL_GAT | NO_OF_SEQ_VARS | ALL_SEQ_VARS | SEQ_VAR | DATE_OVERALL_TS | BEST_DATE_SOURCE_OVERALL_TS | MIN_DATE | MAX_DATE | ALL_PRO_IMPS | NO_OF_PRO_IMPS | PRO_IMP | METHODS | LAB_NAME |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100080369 | 10764005 | 100038546 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-25 | 1)authoriseddate | 2017-11-22 | 2018-01-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080376 | 10778527 | 100038553 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-04-13 | 1)authoriseddate | 2019-04-17 | 2019-08-13 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080382 | 10193130 | 100038559 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2016-08-22 | 1)authoriseddate | 2016-09-19 | 2016-08-22 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Manchester (molecular lab) |
| 100080383 | 11872849 | 100038560 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-08-08 | 1)authoriseddate | 2018-10-03 | 2018-08-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080387 | 10669503 | 100038564 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-10-07 | 1)authoriseddate | 2019-10-25 | 2019-10-07 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 100080392 | 10460633 | 100038569 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-24 | 3)receiveddate | 2019-04-22 | 2019-03-24 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080395 | 11432699 | 100038573 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2017-09-20 | 1)authoriseddate | 2017-10-16 | 2017-09-20 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 100080398 | 10200234 | 100038576 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2017-01-26 | 1)authoriseddate | 2017-02-14 | 2017-01-26 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 100080407 | 10937779 | 100038585 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-12-11 | 1)authoriseddate | 2017-01-03 | 2016-12-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080408 | 10418021 | 100038586 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-08-07 | 1)authoriseddate | 2017-07-10 | 2017-08-07 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 100080409 | 11869410 | 100038587 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-01-02 | 1)authoriseddate | 2017-01-23 | 2017-01-02 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 100080410 | 10844269 | 100038588 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-31 | 1)authoriseddate | 2019-08-27 | 2019-08-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080415 | 11954911 | 100038594 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-03-01 | 3)receiveddate | 2017-03-15 | 2017-03-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080419 | 10322223 | 100038598 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-09-02 | 1)authoriseddate | 2018-09-29 | 2018-09-02 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 100080420 | 10997620 | 100038599 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-04-25 | 3)receiveddate | 2018-01-14 | 2019-04-25 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 100080425 | 10136334 | 100038604 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2017-08-03 | 1)authoriseddate | 2017-08-14 | 2017-10-13 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 100080445 | 10152893 | 100038624 | KRAS | 47 | 1 | 2 | 1 | b:normal,e:failed | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-04-04 | 1)authoriseddate | 2019-04-15 | 2019-04-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080446 | 11165196 | 100038625 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2016-07-02 | 1)authoriseddate | 2018-04-04 | 2016-07-02 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100080448 | 10151974 | 100038627 | KRAS | 47 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-06-30 | 1)authoriseddate | 2016-07-09 | 2016-06-30 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 100080457 | 10050447 | 100038636 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-04-24 | 1)authoriseddate | 2019-05-15 | 2019-04-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080461 | 10287050 | 100038642 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2018-05-25 | 1)authoriseddate | 2018-06-20 | 2018-05-25 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100080463 | 11673500 | 100038644 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-03-07 | 1)authoriseddate | 2016-03-27 | 2016-03-07 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 100080466 | 11792484 | 100038647 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.37G>T | c.37G>T | 2016-09-07 | 1)authoriseddate | 2019-08-13 | 2016-09-07 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100080470 | 10666768 | 100038652 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-04-03 | 1)authoriseddate | 2016-01-27 | 2017-04-03 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 100080477 | 11260828 | 100038660 | KRAS | 47 | 1 | 3 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-31 | 1)authoriseddate | 2019-08-09 | 2019-07-31 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080485 | 11582491 | 100038668 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 3 | c.34G>T,c.35G>T,c.38G>A | multiple | 2019-04-14 | 3)receiveddate | 2019-04-13 | 2019-04-14 | p.Gly13Cys | 1 | p.Gly13Cys | Pyrosequencing | Birmingham (molecular lab) |
| 100080487 | 11430214 | 100038670 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2018-07-06 | 1)authoriseddate | 2018-06-25 | 2018-07-06 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100080493 | 11732926 | 100038677 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.183A>T | c.183A>T | 2019-05-01 | 1)authoriseddate | 2019-05-02 | 2019-05-01 | p.(Gly13Cys) | 1 | p.(Gly13Cys) | Pyrosequencing | Unknown |
| 100080496 | 10089391 | 100038680 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-15 | 3)receiveddate | 2019-09-26 | 2019-09-15 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080498 | 10119429 | 100038684 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-12-31 | 1)authoriseddate | 2019-01-12 | 2018-12-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079985 | 11117960 | 100038153 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-24 | 1)authoriseddate | 2019-09-24 | 2019-09-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080508 | 11476981 | 100038695 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2017-01-26 | 1)authoriseddate | 2017-10-25 | 2017-01-26 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 100080520 | 11032465 | 100038708 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2016-09-07 | 1)authoriseddate | 2019-06-01 | 2016-09-07 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080521 | 11211387 | 100038709 | KRAS | 47 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-10-11 | 3)receiveddate | 2018-10-10 | 2020-10-01 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080522 | 10694084 | 100038710 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2019-11-11 | 1)authoriseddate | 2019-11-12 | 2019-11-11 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Newcastle (molecular lab) |
| 100080529 | 10509832 | 100038718 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2018-08-11 | 1)authoriseddate | 2018-07-28 | 2018-11-21 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 100080532 | 11134422 | 100038721 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-10-12 | 1)authoriseddate | 2016-11-08 | 2016-10-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080537 | 10228934 | 100038726 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-13 | 1)authoriseddate | 2019-04-11 | 2019-03-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080542 | 10744162 | 100038731 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-17 | 1)authoriseddate | 2019-02-24 | 2019-03-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080544 | 11903738 | 100038733 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-10-16 | 3)receiveddate | 2017-11-05 | 2017-10-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080547 | 11686991 | 100038736 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-24 | 3)receiveddate | 2019-07-17 | 2019-07-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080565 | 11034634 | 100038756 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-07-23 | 1)authoriseddate | 2017-08-20 | 2017-07-23 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 100080568 | 11316164 | 100038759 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2017-10-22 | 1)authoriseddate | 2017-09-27 | 2017-10-22 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Newcastle (molecular lab) |
| 100080572 | 10729037 | 100038765 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-04-15 | 3)receiveddate | 2016-04-12 | 2016-04-15 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 100080582 | 11510370 | 100038775 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-02-17 | 3)receiveddate | 2017-02-13 | 2017-02-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080587 | 11159725 | 100038780 | KRAS | 47 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-24 | 1)authoriseddate | 2019-03-12 | 2019-02-24 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080590 | 10936938 | 100038783 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-13 | 1)authoriseddate | 2019-08-09 | 2019-08-13 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080596 | 10116335 | 100038790 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-08-03 | 1)authoriseddate | 2017-08-26 | 2017-08-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100080597 | 10456923 | 100038791 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-07-27 | 1)authoriseddate | 2016-10-16 | 2016-07-27 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100080603 | 10009402 | 100038799 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-06-01 | 1)authoriseddate | 2019-06-26 | 1900-01-01 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |