exon 4 | c.1886T>G | p.(Phe629Cys) | F629C | Uncertain significance (VUS) | To be validated |
| | 2024-04-30 | |
exon 4 | c.1325G>A | p.(Ser442Asn) | S442N | Uncertain significance (VUS) | To be validated |
| | 2024-04-26 | |
exon 4 | c.2036G>A | p.(Ser679Asn) | S679N | Uncertain significance (VUS) | To be validated |
| | 2024-03-20 | 2024-03-20 |
exon 7 | c.2803G>A | p.(Asp935Asn) | D935N | Likely benign | To be validated |
| | 2024-03-06 | |
exon 4 | c.1998T>G | p.(Phe666Leu) | F666L | Uncertain significance (VUS) | To be validated |
| | 2024-03-06 | |
exon 4 | c.1054G>T | p.(Gly352Trp) | G352W | Uncertain significance (VUS) | To be validated |
| | 2024-03-06 | |
exon 17 | c.4151A>C | p.(Gln1384Pro) | Q1384P | Uncertain significance (VUS) | To be validated |
| | 2024-03-06 | |
exon 12 | c.3325C>T | p.(Arg1109Cys) | R1109C | Likely benign | To be validated |
| | 2024-03-06 | |
exon 2 | c.412A>T | p.(Arg138Ter) | R138* | Uncertain significance (VUS) | To be validated |
| | 2024-03-06 | |
exon 4 | c.868A>G | p.(Arg290Gly) | R290G | Likely benign | To be validated |
| | 2024-03-06 | |
exon 17 | c.4270A>T | p.(Ser1424Cys) | S1424C | Uncertain significance (VUS) | To be validated |
| | 2024-03-06 | |
exon 17 | c.4260C>A | p.(Asn1420Lys) | N1420K | Likely benign | To be validated |
| | 2024-03-05 | |
exon 12 | c.3306C>G | p.(Phe1102Leu) | F1102L | Uncertain significance (VUS) | To be validated |
| | 2023-12-06 | |
exon 1 | c.70T>C | p.(Phe24Leu) | F24L | Likely pathogenic | To be validated |
| | 2023-08-24 | |
exon 5 | c.2438T>C | p.(Leu813Pro) | L813P | Likely pathogenic | To be validated |
| | 2023-02-14 | |
exon 13 | c.3641C>T | p.(Pro1214Leu) | P1214L | Likely pathogenic | To be validated |
| | 2021-05-27 | 2022-06-02 |
exon 1 | c.175G>C | p.(Ala59Pro) | A59P | Likely pathogenic | To be validated |
| | 2020-01-28 | |
exon 1 | c.160G>A | p.(Ala54Thr) | A54T | Likely pathogenic | To be validated |
| | 2019-11-08 | 2022-06-02 |
exon 1 | c.197C>T | p.(Ala66Val) | A66V | Likely pathogenic | To be validated |
| | 2019-11-08 | 2022-06-02 |
exon 5 | c.2359_2529del | p.(Phe787_Arg843del) | F787_R843del | Likely pathogenic | To be validated |
| | 2019-11-08 | 2022-06-02 |
exon 4 | c.2264C>A | p.(Thr755Asn) | T755N | Not classified | To be validated |
| | 2019-11-08 | |
exon 1 | c.230T>C | p.(Met77Thr) | M77T | Likely pathogenic | To be validated |
| | 2018-10-01 | 2022-06-02 |
exon 13 | c.3641C>G | p.(Pro1214Arg) | P1214R | Pathogenic | To be validated |
| | 2018-10-01 | 2024-03-25 |
exon 4 | c.2176C>T | p.(Arg726Trp) | R726W | Likely pathogenic | To be validated |
| | 2018-10-01 | 2022-06-02 |