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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130079465 | 11360340 | 130018862 | 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 | 2018-05-20 | 1)authoriseddate | 2018-06-17 | 2018-05-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079466 | 11752850 | 130018864 | 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 | 2018-10-14 | 3)receiveddate | 2018-10-01 | 2018-10-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079468 | 10090325 | 130018866 | 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 | 2016-03-15 | 3)receiveddate | 2016-03-24 | 2016-03-15 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130079469 | 10166231 | 130018867 | 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>A | c.34G>A | 2019-02-14 | 1)authoriseddate | 2019-03-07 | 2019-02-14 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Leeds (molecular lab) |
| 130079470 | 10605268 | 130018868 | 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 | 2019-06-12 | 1)authoriseddate | 2019-06-30 | 2019-06-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079471 | 11000246 | 130018869 | KRAS | 47 | 2 | 2 | 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 | 2019-08-04 | 1)authoriseddate | 2019-08-14 | 2019-08-04 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130079472 | 11801311 | 130018870 | 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 | 2018-06-26 | 3)receiveddate | 2018-04-04 | 2018-06-26 | p.G12D | 1 | p.G12D | Pyrosequencing | Birmingham (molecular lab) |
| 130079474 | 11031037 | 130018872 | 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.38G>A | c.38G>A | 2018-10-31 | 1)authoriseddate | 2018-11-28 | 2018-10-31 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079475 | 10359004 | 130018873 | KRAS | 47 | 2 | 2 | 2 | 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 | 2019-05-27 | 1)authoriseddate | 2019-06-24 | 2019-05-27 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079477 | 11421298 | 130018875 | 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 | 2018-10-20 | 1)authoriseddate | 2018-11-18 | 2018-10-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079479 | 10029424 | 130018877 | 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 | 2018-11-11 | 1)authoriseddate | 2018-12-09 | 2018-11-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079480 | 10638311 | 130018878 | 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 | 2016-04-24 | 1)authoriseddate | 2016-05-23 | 2016-04-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079482 | 10623924 | 130018880 | 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 | 2019-12-31 | 3)receiveddate | 2020-01-29 | 2019-12-31 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079485 | 11934534 | 130018883 | 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 | 2019-05-18 | 3)receiveddate | 2019-06-10 | 2019-05-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079486 | 10861454 | 130018884 | 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 | 2016-07-14 | 3)receiveddate | 2016-08-11 | 2016-07-14 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079487 | 10658515 | 130018885 | 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 | 2019-08-20 | 1)authoriseddate | 2019-09-10 | 2019-08-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079488 | 11628052 | 130018886 | 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 | 2018-11-25 | 1)authoriseddate | 2018-12-21 | 2018-11-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079489 | 11865921 | 130018887 | 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 | 2019-09-14 | 3)receiveddate | 2019-09-18 | 2019-09-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079490 | 11254262 | 130018889 | 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 | 2019-11-03 | 3)receiveddate | 2019-11-05 | 2019-11-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079492 | 11331679 | 130018891 | KRAS | 47 | 2 | 2 | 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 | 2018-11-24 | 3)receiveddate | 2018-12-22 | 2018-11-24 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130079493 | 11925434 | 130018893 | 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 | 2019-10-20 | 3)receiveddate | 2019-10-31 | 2019-10-20 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079494 | 10522025 | 130018894 | KRAS | 47 | 1 | 2 | 1 | g:unknown/null,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 | 2019-03-20 | 1)authoriseddate | 2019-04-15 | 2019-03-20 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079495 | 11220216 | 130018895 | 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 | 2017-01-01 | 3)receiveddate | 2017-01-20 | 2017-01-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079498 | 10318918 | 130018898 | 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 | 2018-07-31 | 1)authoriseddate | 2018-08-27 | 2018-07-31 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079499 | 11424754 | 130018899 | 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 | 2019-12-01 | 1)authoriseddate | 2019-12-31 | 2019-12-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079501 | 11288270 | 130018901 | 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 | 2019-09-10 | 1)authoriseddate | 2019-10-10 | 2019-09-10 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079502 | 10090515 | 130018902 | 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 | 2017-11-28 | 1)authoriseddate | 2017-12-08 | 2017-11-28 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130079503 | 10737535 | 130018903 | 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 | 2019-07-11 | 1)authoriseddate | 2019-08-05 | 2019-07-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079504 | 11688298 | 130018904 | 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 | 2019-04-11 | 3)receiveddate | 2019-04-18 | 2019-04-11 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079505 | 10661977 | 130018905 | 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 | 2019-11-19 | 1)authoriseddate | 2019-12-11 | 2019-11-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079506 | 10210969 | 130018906 | 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 | 2019-01-12 | 3)receiveddate | 2019-02-10 | 2019-01-12 | null | 0 | null | Pyrosequencing | Unknown |
| 130079508 | 11850826 | 130018908 | 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 | 2019-01-13 | 1)authoriseddate | 2019-02-09 | 2019-01-13 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130079509 | 10065327 | 130018909 | 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 | 2019-09-23 | 3)receiveddate | 2019-09-26 | 2019-09-23 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079510 | 11083876 | 130018910 | 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 | 2018-06-27 | 1)authoriseddate | 2018-07-21 | 2018-06-27 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130079513 | 10438330 | 130018914 | 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 | 2019-02-20 | 3)receiveddate | 2018-08-24 | 2019-02-20 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079514 | 11918612 | 130018915 | 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 | 2019-09-04 | 1)authoriseddate | 2019-10-01 | 2019-09-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079515 | 11842018 | 130018916 | 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 | 2018-04-11 | 1)authoriseddate | 2018-05-07 | 2018-04-11 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 130079516 | 11259184 | 130018917 | 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>C | c.183A>C | 2018-04-07 | 3)receiveddate | 2018-04-13 | 2018-04-07 | p.Gln61His | 1 | p.Gln61His | Pyrosequencing | Birmingham (molecular lab) |
| 130079518 | 11456946 | 130018919 | 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 | 2019-02-09 | 1)authoriseddate | 2019-01-29 | 2019-06-14 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079519 | 10817901 | 130018920 | 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 | 2019-01-20 | 3)receiveddate | 2019-02-11 | 2019-01-20 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130079520 | 10725887 | 130018921 | 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 | 2019-06-21 | 1)authoriseddate | 2019-07-15 | 2019-11-17 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130079522 | 11027571 | 130018923 | 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.38G>A | c.38G>A | 2019-10-30 | 1)authoriseddate | 2019-10-17 | 2019-10-30 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079524 | 10908850 | 130018925 | 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 | 2019-03-14 | 3)receiveddate | 2019-04-11 | 2019-03-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079525 | 10991623 | 130018926 | 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 | 2017-06-24 | 1)authoriseddate | 2017-07-21 | 2017-06-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079526 | 10622748 | 130018927 | 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 | 1)authoriseddate | 2019-04-13 | 2019-03-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079527 | 11992686 | 130018928 | 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.38G>A | c.38G>A | 2019-02-05 | 1)authoriseddate | 2019-01-28 | 2019-02-05 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130079531 | 11054837 | 130018932 | 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 | 2019-11-19 | 3)receiveddate | 2019-12-09 | 2019-11-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079534 | 10135972 | 130018935 | 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 | 2016-02-04 | 1)authoriseddate | 2016-02-17 | 2016-02-04 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130079536 | 11269902 | 130018937 | 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 | 2018-05-10 | 1)authoriseddate | 2018-05-21 | 2018-05-10 | p.Gly12Ala | 1 | p.Gly12Ala | Pyrosequencing | Bristol (molecular lab) |
| 130079537 | 10158395 | 130018938 | 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.351A>C | c.351A>C | 2017-02-10 | 3)receiveddate | 2017-02-18 | 2017-02-10 | p.Gln61Lys | 1 | p.Gln61Lys | Pyrosequencing | Birmingham (molecular lab) |