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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130049113 | 10789388 | 130018128 | 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 | 2019-04-08 | 3)receiveddate | 2019-05-07 | 2019-04-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049114 | 10378431 | 130018129 | 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 | 2016-09-10 | 3)receiveddate | 2016-09-02 | 2016-09-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049115 | 10680715 | 130018130 | 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 | 2016-10-06 | 1)authoriseddate | 2016-10-19 | 2016-10-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049116 | 11418109 | 130018131 | 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 | 2017-07-01 | 1)authoriseddate | 2017-06-16 | 2017-07-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049117 | 10053385 | 130018132 | 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 | 2019-05-12 | 3)receiveddate | 2019-05-16 | 2019-05-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049118 | 11733810 | 130018133 | 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 | 2019-07-04 | 1)authoriseddate | 2019-03-20 | 2019-07-04 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130049119 | 11543453 | 130018134 | 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 | 2019-07-19 | 3)receiveddate | 2019-06-28 | 2019-07-19 | p.Gly12Ala | 1 | p.Gly12Ala | Pyrosequencing | Birmingham (molecular lab) |
| 130049120 | 10659819 | 130018135 | 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 | 2019-10-03 | 1)authoriseddate | 2019-10-31 | 2019-10-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049121 | 10490316 | 130018136 | 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 | 2016-08-16 | 1)authoriseddate | 2016-09-08 | 2016-08-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049123 | 10358984 | 130018138 | 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 | 2017-12-16 | 1)authoriseddate | 2017-12-23 | 2017-12-16 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130049124 | 10806622 | 130018139 | 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 | 2016-09-01 | 1)authoriseddate | 2016-09-13 | 2016-09-01 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130049125 | 10946236 | 130018140 | 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.436G>A | c.436G>A | 2019-09-03 | 3)receiveddate | 2019-09-14 | 2019-09-03 | p.Ala146Thr | 1 | p.Ala146Thr | Pyrosequencing | Birmingham (molecular lab) |
| 130049126 | 11232681 | 130018141 | 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 | 2019-04-07 | 3)receiveddate | 2019-03-04 | 2019-04-07 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130049127 | 10626785 | 130018142 | 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 | 2016-03-06 | 1)authoriseddate | 2016-01-30 | 2016-03-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049128 | 10512370 | 130018143 | 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.436G>A | c.436G>A | 2018-08-12 | 3)receiveddate | 2018-08-17 | 2018-08-25 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130049129 | 11676077 | 130018144 | 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 | 2016-02-25 | 1)authoriseddate | 2016-03-08 | 2016-02-25 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049130 | 10385608 | 130018145 | 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.436G>A | c.436G>A | 2017-09-12 | 1)authoriseddate | 2017-09-20 | 2017-09-12 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130049132 | 10439632 | 130018147 | 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 | 2018-01-09 | 1)authoriseddate | 2017-12-19 | 2018-01-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049133 | 10844486 | 130018148 | 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 | 2016-07-12 | 1)authoriseddate | 2016-07-20 | 2016-07-12 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130049134 | 10925850 | 130018149 | 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 | 2019-11-08 | 1)authoriseddate | 2019-11-26 | 2019-11-08 | p.(Gln61His) | 1 | p.(Gln61His) | Pyrosequencing | Birmingham (molecular lab) |
| 130049136 | 10595002 | 130018151 | 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.436G>A | c.436G>A | 2019-03-07 | 3)receiveddate | 2019-03-07 | 2019-03-07 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130049138 | 10268706 | 130018153 | 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 | 2016-06-01 | 1)authoriseddate | 2016-06-11 | 2016-06-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049140 | 10800588 | 130018155 | 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 | 2019-07-09 | 3)receiveddate | 2019-07-03 | 2019-07-09 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130049142 | 10032179 | 130018157 | 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 | 2018-09-24 | 1)authoriseddate | 2018-09-23 | 2018-09-24 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130049143 | 10784985 | 130018158 | 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 | 2019-02-19 | 3)receiveddate | 2019-02-23 | 2019-02-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049145 | 10992784 | 130018160 | 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 | 2019-06-18 | 3)receiveddate | 2019-05-23 | 2019-06-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130015978 | 10122796 | 130015978 | NRAS | 56 | 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 | 2019-12-04 | 3)receiveddate | 2019-12-29 | 2019-12-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049147 | 11788304 | 130018162 | 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 | 2017-05-16 | 3)receiveddate | 2017-05-15 | 2017-05-16 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049148 | 11152474 | 130018163 | 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 | 2019-02-11 | 1)authoriseddate | 2019-03-12 | 2019-02-11 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130049149 | 11482025 | 130018164 | 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 | 2019-09-03 | 3)receiveddate | 2019-08-27 | 2019-09-03 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130049151 | 10525273 | 130018166 | KRAS | 47 | 1 | 2 | 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>A | c.35G>A | 2018-03-31 | 1)authoriseddate | 2018-04-26 | 2018-03-31 | p.G12D | 1 | p.G12D | Pyrosequencing | Birmingham (molecular lab) |
| 130049152 | 10518215 | 130018167 | 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 | 2016-08-23 | 3)receiveddate | 2016-09-10 | 2016-08-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049153 | 11838044 | 130018168 | 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 | 2019-08-01 | 1)authoriseddate | 2019-08-29 | 2019-12-08 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130049154 | 10920507 | 130018169 | 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 | 2017-07-16 | 3)receiveddate | 2017-08-04 | 2017-07-16 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130049155 | 11222402 | 130018170 | 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 | 2017-12-22 | 1)authoriseddate | 2018-01-20 | 2017-12-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049156 | 10051701 | 130018171 | 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.436G>A | c.436G>A | 2017-03-26 | 1)authoriseddate | 2017-04-04 | 2017-03-26 | p.Ala146Thr | 1 | p.Ala146Thr | Pyrosequencing | Birmingham (molecular lab) |
| 130049157 | 10199750 | 130018172 | 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 | 2018-08-26 | 3)receiveddate | 2018-09-08 | 2018-08-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049158 | 11813351 | 130018173 | 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 | 2017-01-30 | 1)authoriseddate | 2017-01-18 | 2017-01-30 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Leeds (molecular lab) |
| 130049159 | 11292456 | 130018174 | 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 | 2016-08-14 | 3)receiveddate | 2016-08-04 | 2016-08-14 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130049161 | 10116867 | 130018177 | 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 | 2017-04-13 | 3)receiveddate | 2016-02-09 | 2017-04-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049162 | 11694371 | 130018178 | 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 | 2018-10-21 | 3)receiveddate | 2018-04-09 | 2018-10-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049163 | 10653747 | 130018179 | 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 | 2019-01-12 | 3)receiveddate | 2019-02-10 | 2019-01-12 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049164 | 10092204 | 130018180 | 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 | 2019-05-30 | 3)receiveddate | 2019-05-27 | 2019-05-30 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049165 | 10065917 | 130018181 | 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 | 2016-12-22 | 3)receiveddate | 2016-12-13 | 2016-12-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049166 | 10286870 | 130018182 | 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 | 2017-10-24 | 3)receiveddate | 2017-08-12 | 2017-10-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049168 | 11248873 | 130018184 | 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 | 2017-01-19 | 1)authoriseddate | 2017-01-20 | 2017-01-19 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130049169 | 10283377 | 130018185 | KRAS | 47 | 1 | 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.38G>A | c.38G>A | 2019-07-25 | 3)receiveddate | 2019-08-22 | 2019-07-25 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049170 | 11214977 | 130018186 | 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 | 2016-08-06 | 1)authoriseddate | 2016-07-07 | 2016-08-06 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049171 | 11304528 | 130018187 | 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 | 2019-05-28 | 1)authoriseddate | 2019-06-21 | 2019-05-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049173 | 10974591 | 130018189 | 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>C | c.37G>C | 2019-11-20 | 3)receiveddate | 2018-07-28 | 2019-11-20 | p.(Lys117Asn) | 1 | p.(Lys117Asn) | Pyrosequencing | Birmingham (molecular lab) |