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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100079434 | 11630720 | 100037599 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-07-05 | 1)authoriseddate | 2019-07-27 | 2019-07-05 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079435 | 11890530 | 100037600 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2017-09-12 | 3)receiveddate | 2017-10-11 | 2017-09-12 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079436 | 11972926 | 100037601 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2016-08-20 | 1)authoriseddate | 2016-09-03 | 2016-08-20 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079437 | 10238323 | 100037602 | ROS1 | 67 | 2 | 2 | 2 | f:not_tested,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-07-15 | 1)authoriseddate | 2018-07-12 | 2018-07-15 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079439 | 10654513 | 100037604 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-11-07 | 1)authoriseddate | 2018-11-02 | 2018-11-07 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079440 | 11546503 | 100037605 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-10-27 | 1)authoriseddate | 2019-10-18 | 2019-10-27 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079441 | 10665642 | 100037606 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2017-03-28 | 3)receiveddate | 2017-02-12 | 2017-03-28 | null | 0 | null | FISH - Specific Probe | Sheffield (molecular lab) |
| 100079442 | 11863387 | 100037607 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-02-27 | 1)authoriseddate | 2019-03-02 | 2019-04-04 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079443 | 10328230 | 100037608 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-05-11 | 3)receiveddate | 2019-06-07 | 2019-05-11 | null | 0 | null | FISH - Specific Probe | Manchester (molecular lab) |
| 100079444 | 10512456 | 100037609 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-06-12 | 1)authoriseddate | 2018-06-28 | 2018-06-12 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079445 | 11947536 | 100037610 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2016-12-20 | 3)receiveddate | 2017-01-13 | 2016-12-20 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079446 | 10215952 | 100037611 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2016-10-22 | 1)authoriseddate | 2016-10-24 | 2016-10-22 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079447 | 10664542 | 100037612 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-09-26 | 1)authoriseddate | 2019-10-04 | 2019-09-26 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079448 | 11517671 | 100037613 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | c:borderline_a_fusion/trans | null | 0 | null | null | 2018-07-04 | 1)authoriseddate | 2018-08-17 | 2018-07-04 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079449 | 11124912 | 100037614 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-12-25 | 1)authoriseddate | 2019-01-21 | 2018-12-25 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079450 | 11461101 | 100037615 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2017-12-06 | 1)authoriseddate | 2018-01-04 | 2017-12-06 | null | 0 | null | FISH - Specific Probe | Royal Marsden (molecular lab) |
| 100079451 | 11473375 | 100037616 | ROS1 | 67 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2017-04-08 | 3)receiveddate | 2017-05-04 | 2017-04-08 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079453 | 10517293 | 100037618 | ROS1 | 67 | 2 | 2 | 2 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-06-05 | 3)receiveddate | 2018-06-07 | 2018-06-05 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100079455 | 11290714 | 100037620 | 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 | 2019-06-06 | 1)authoriseddate | 2019-06-23 | 2019-06-06 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079456 | 11951550 | 100037621 | 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 | 2018-10-17 | 3)receiveddate | 2018-10-15 | 2018-10-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100079457 | 11821619 | 100037622 | KRAS | 47 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 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 | 2018-05-20 | 1)authoriseddate | 2018-06-16 | 2018-05-20 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079458 | 10568959 | 100037623 | KRAS | 47 | 2 | 2 | 2 | e:failed,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 | 2018-07-10 | 3)receiveddate | 2018-08-03 | 2018-07-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 100079459 | 10150358 | 100037624 | 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 | 2018-03-26 | 1)authoriseddate | 2018-04-24 | 2018-03-26 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100079460 | 11694660 | 100037625 | 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 | 2016-11-06 | 1)authoriseddate | 2016-11-03 | 2016-11-06 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Royal Marsden (molecular lab) |
| 100079461 | 10828254 | 100037626 | 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 | 2019-10-23 | 1)authoriseddate | 2019-10-30 | 2019-10-23 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Royal Marsden (molecular lab) |
| 100079462 | 11107043 | 100037627 | 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 | 2018-03-31 | 3)receiveddate | 2018-03-07 | 2018-03-31 | null | 0 | null | Immunochemistry | Royal Marsden (molecular lab) |
| 100079463 | 11897279 | 100037628 | 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 | 2019-06-09 | 3)receiveddate | 2019-06-22 | 2019-06-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079464 | 10480843 | 100037629 | 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 | 2018-08-22 | 3)receiveddate | 2018-08-27 | 2018-08-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079465 | 11406074 | 100037630 | KRAS | 47 | 1 | 2 | 1 | e:failed,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 | 2016-01-16 | 1)authoriseddate | 2016-12-07 | 2016-01-16 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079466 | 10321410 | 100037631 | 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 | 2018-12-30 | 1)authoriseddate | 2019-01-08 | 2018-12-30 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Other | Royal Marsden (molecular lab) |
| 100079467 | 10346022 | 100037632 | 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 | 2018-01-28 | 1)authoriseddate | 2018-02-25 | 2018-01-28 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079468 | 10880039 | 100037633 | 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 | 2017-09-16 | 1)authoriseddate | 2017-09-11 | 2017-09-16 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 100079469 | 11277857 | 100037634 | 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 | 2019-08-02 | 1)authoriseddate | 2019-06-16 | 2019-08-02 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079470 | 10818918 | 100037635 | 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 | 2017-01-24 | 1)authoriseddate | 2016-10-13 | 2017-01-24 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 100079471 | 10809841 | 100037636 | KRAS | 47 | 1 | 1 | 1 | a:abnormal,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 | 2019-05-20 | 1)authoriseddate | 2019-06-04 | 2019-05-20 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100079472 | 11631766 | 100037637 | 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 | 2017-12-10 | 1)authoriseddate | 2017-12-20 | 2018-01-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079473 | 11905383 | 100037638 | KRAS | 47 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 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 | 2019-05-26 | 1)authoriseddate | 2019-06-04 | 2019-05-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079474 | 10200322 | 100037639 | 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 | 2017-05-10 | 3)receiveddate | 2017-04-29 | 2017-05-10 | p.Gly13Cys | 1 | p.Gly13Cys | Pyrosequencing | Birmingham (molecular lab) |
| 100079475 | 10490846 | 100037640 | 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 | 2019-04-14 | 1)authoriseddate | 2019-04-12 | 2019-04-14 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079476 | 10147428 | 100037641 | 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 | 2016-05-28 | 1)authoriseddate | 2016-05-25 | 2016-05-28 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100079477 | 11899789 | 100037642 | 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 | 2016-08-07 | 1)authoriseddate | 2016-08-01 | 2016-08-07 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079478 | 11083445 | 100037643 | 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 | 2 | c.34G>T,c.35G>A | multiple | 2019-02-24 | 1)authoriseddate | 2019-02-15 | 2019-11-01 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100079479 | 11888581 | 100037644 | KRAS | 47 | 1 | 2 | 1 | e:failed,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 | 2018-05-08 | 1)authoriseddate | 2018-05-11 | 2018-05-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079480 | 11546151 | 100037645 | 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 | 2017-02-27 | 3)receiveddate | 2017-03-21 | 2017-02-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079481 | 11861242 | 100037646 | 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 | 2018-11-13 | 1)authoriseddate | 2018-11-07 | 2018-12-19 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100079482 | 11458512 | 100037647 | 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 | 2017-01-15 | 1)authoriseddate | 2016-12-06 | 2017-01-15 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Royal Marsden (molecular lab) |
| 100079483 | 10961041 | 100037648 | 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 | 2017-09-15 | 1)authoriseddate | 2017-09-30 | 2017-09-15 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100079484 | 11082500 | 100037649 | 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 | 2019-07-06 | 1)authoriseddate | 2019-07-30 | 2019-07-06 | p.(Gln61Leu) | 1 | p.(Gln61Leu) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079485 | 11090879 | 100037650 | 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>C | c.35G>C | 2018-11-22 | 3)receiveddate | 2018-11-30 | 2018-11-22 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 100079486 | 10763001 | 100037651 | 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 | 2019-12-05 | 3)receiveddate | 2019-12-02 | 2019-12-05 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |