5 flanking | c.-505397_*1143129del | p.0 | g.137683250_139345585del | Likely pathogenic | To be validated |
| | 2022-08-23 | |
5 flanking | c.0 | p.0 | del(6)(q23.2q24.1) | Likely pathogenic | To be validated |
| | 2019-03-04 | 2020-06-05 |
intron 1 | c.-15-1605_448del | p.0 | delEx2-3 | Likely pathogenic | To be validated |
| | 2020-04-03 | 2020-04-03 |
exon 2 | c.65G>A | p.(Arg22Gln) | R22Q | Uncertain significance (VUS) | VALIDATED |
| | 2018-03-05 | 2018-08-21 |
exon 2 | c.133C>T | p.(Arg45*) | R45X | Pathogenic | VALIDATED |
| | 2018-03-23 | |
exon 2 | c.247C>T | p.(Leu83Phe) | L83F | Likely pathogenic | To be validated |
| | 2021-12-09 | 2021-12-14 |
exon 2 | c.252delC | p.(Trp85Glyfs*11) | p.W85GfsX11 | Pathogenic | VALIDATED |
| | 2017-04-28 | 2018-04-03 |
exon 2 | c.259C>T | p.(Arg87*) | R87X | Likely pathogenic | To be validated |
| | 2019-08-21 | 2022-05-16 |
exon 2 | c.271A>T | p.(Lys91*) | K91* | Pathogenic | To be validated |
| | 2019-03-04 | 2023-07-27 |
intron 2 | c.296-2A>G | p.? | 296-2A>G | Likely pathogenic | To be validated |
| | 2019-03-05 | 2021-02-19 |
exon 3 | c.305A>G | p.(Asn102Ser) | N102S | Uncertain significance (VUS) | To be validated |
| | 2020-08-28 | 2021-02-19 |
exon 3 | c.322A>G | p.(Thr108Ala) | T108A | Likely benign | To be validated |
| | 2022-08-23 | |
exon 3 | c.380T>G | p.(Phe127Cys) | P127C | Benign | To be validated |
| | 2024-03-12 | |
exon 3 | c.386C>T | p.(Thr129Met) | T129M | Uncertain significance (VUS) | To be validated |
| | 2022-09-14 | |
exon 3 | c.405_406delAC | p.(Arg136Glnfs*3) | D134fs | Likely pathogenic | To be validated |
| | 2019-03-05 | 2021-02-19 |
exon 3 | c.421C>T | p.(Arg141Cys) | R141C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
exon 3 | c.440_441del | p.(Leu147Glnfs*7) | c.436-437deTC | Pathogenic | To be validated |
| | 2021-05-31 | 2021-06-01 |
exon 3 | c.444del | p.(Lys148AsnfsTer68) | K148Nfs*68 | Likely pathogenic | To be validated |
| | 2023-04-06 | |
exon 3 | c.460G>T | p.(Glu154*) | E154* | Likely pathogenic | To be validated |
| | 2022-02-18 | 2022-12-13 |
exon 3 | c.464C>T | p.(Thr155Met) | T155M | Likely benign | To be validated |
| | 2019-03-18 | 2024-08-28 |
intron 3 | c.486+1G>T | p.? | c.486+1G>T | Likely pathogenic | To be validated |
| | 2021-11-10 | |
exon 4 | c.492G>A | p.(Trp164Ter) | W164* | Likely pathogenic | To be validated |
| | 2020-08-28 | |
exon 4 | c.523G>C | p.(Ala175Pro) | A175P | Uncertain significance (VUS) | To be validated |
| | 2020-09-30 | 2020-12-04 |
exon 4 | c.547C>T | p.(Arg183*) | R183* | Pathogenic | To be validated |
| | 2019-08-21 | |
exon 4 | c.559C>T | p.(Gln187*) | Q187X | Likely pathogenic | To be validated |
| | 2019-08-21 | 2022-06-13 |
exon 4 | c.574G>A | p.(Glu192Lys) | E192K | Likely pathogenic | To be validated |
| | 2021-05-27 | 2021-05-27 |
exon 4 | c.598del | p.(Cys200Alafs*16) | C596_598 del A | Likely pathogenic | To be validated |
| | 2018-12-13 | 2021-02-19 |
exon 4 | c.619A>C | p.(Ile207Leu) | I207L | Likely benign | To be validated |
| | 2022-08-23 | |
intron 4 | c.634+2T>C | p.Asp212Glyfs*38 | p.D212Gfs*38 | Likely pathogenic | To be validated |
| | 2023-02-06 | |
exon 5 | c.649A>C | p.(Ser217Arg) | S217R | Uncertain significance (VUS) | To be validated |
| | 2023-08-28 | |
exon 5 | c.671delT | p.(Phe224Serfs*4) | p.F224Sfs*4 | Pathogenic | VALIDATED |
| | 2017-04-28 | 2022-01-19 |
exon 5 | c.677del | p.(Pro226Leufs*2) | P226Lfs*2 | Likely pathogenic | To be validated |
| | 2023-05-08 | |
exon 5 | c.680T>A | p.(Leu227*) | p.L227* | Pathogenic | VALIDATED |
| | 2017-04-28 | 2022-01-19 |
exon 5 | c.707T>C | p.(Leu236Pro) | L236P | Likely pathogenic | To be validated |
| | 2023-10-03 | |
exon 5 | c.728G>A | p.(Cys243Tyr) | C243Y | Pathogenic | VALIDATED |
| | 2017-04-28 | 2017-04-28 |
exon 5 | c.756_770del | p.(Asp253_Phe257del) | D253_F257DEL | Not classified | To be validated |
| | 2019-05-13 | |
exon 5 | c.801del | p.(Pro268Leufs*19) | p.P268Lfs*19 | Pathogenic | VALIDATED |
| | 2017-04-28 | 2022-01-19 |
exon 6 | c.811C>T | p.(Arg271*) | p.R271* | Pathogenic | VALIDATED |
| | 2017-04-28 | 2022-08-16 |
exon 6 | c.821del | p.(Pro274Hisfs*13) | P274Hfs | Likely pathogenic | To be validated |
| | 2021-01-11 | |
exon 6 | c.824T>C | p.(Leu275Pro) | L275P | Likely pathogenic | To be validated |
| | 2022-09-14 | 2022-09-14 |
exon 6 | c.874A>C | p.(Thr292Pro) | T292P | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
exon 6 | c.910_914del | p.(Lys304Valfs*27) | p.L303fs | Pathogenic | To be validated |
| | 2024-03-27 | |
exon 6 | c.918C>G | p.(Tyr306*) | p.Y306* | Pathogenic | VALIDATED |
| | 2017-04-28 | 2022-01-19 |
exon 6 | c.925_927dup | p.(Val309dup) | V309dup | Likely pathogenic | To be validated |
| | 2021-08-26 | 2021-08-27 |
exon 6 | c.929T>C | p.(Ile310Thr) | I310T | Uncertain significance (VUS) | To be validated |
| | 2021-05-27 | |
exon 6 | c.971_975del | p.(Leu324Glnfs*7) | p.(L324Qfs*7) | Pathogenic | To be validated |
| | 2021-12-10 | |
exon 7 | c.(?_989)_(2088+2_?)del | p.? | Exon7–8deletion | Likely pathogenic | To be validated |
| | 2023-02-06 | |
exon 7 | c.994G>T | p.(Glu332*) | E32* | Likely pathogenic | To be validated |
| | 2020-04-02 | 2020-12-04 |
exon 7 | c.997dupG | p.(Ala333Glyfs*2) | A333fs2 | Likely pathogenic | To be validated |
| | 2020-04-02 | 2021-02-19 |
exon 7 | c.1005dup | p.(Pro336Thrfs*9) | P336fs | Likely pathogenic | To be validated |
| | 2019-03-05 | 2021-02-19 |
exon 7 | c.1012G>T | p.(Glu338*) | E338* | Likely pathogenic | VALIDATED |
| | 2018-03-22 | |
exon 7 | c.1066T>C | - | W356R | Pathogenic | To be validated |
| | 2021-11-03 | |
exon 7 | c.1108delC | p.(Gln370Argfs*16) | Q370Rfs*16 | Likely pathogenic | VALIDATED |
| | 2018-03-22 | |
exon 7 | c.1110_1111del | p.(Asn371Serfs*17) | p.(N371Sfs*17) | Pathogenic | To be validated |
| | 2022-08-23 | |
exon 7 | c.1151A>G | p.(Asp384Gly) | D384G | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
exon 7 | c.1249_1252del | p.(Lys417Serfs*4) | Q415fs | Pathogenic | VALIDATED |
| | 2017-04-28 | 2018-04-03 |
exon 7 | c.1300_1301delinsTA | p.(A434*) | A434* | Likely pathogenic | To be validated |
| | 2023-02-06 | |
exon 7 | c.1301C>T | p.(Ala434Val) | A434V | Uncertain significance (VUS) | To be validated |
| | 2021-06-25 | |
exon 7 | c.1318_1319del | p.(Gly440Argfs*4) | c.1316_1317del | Likely pathogenic | To be validated |
| | 2021-10-07 | |
exon 7 | c.1344G>C | p.(Trp448Cys) | W448C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2021-02-19 |
exon 7 | c.1345delA | p.(Asn449Thrfs*28) | N449Tfs*28 | Pathogenic | VALIDATED |
| | 2018-03-23 | |
exon 7 | c.1368dup | p.(Pro457Alafs*16) | P457Afs*16 | Likely pathogenic | To be validated |
| | 2022-06-03 | |
exon 7 | c.1428G>A | p.(Met476Ile) | M476I | Not classified | To be validated |
| | 2019-03-01 | 2019-03-04 |
exon 7 | c.1434C>A | p.(Cys478*) | C478* | Likely pathogenic | To be validated |
| | 2019-06-13 | 2021-02-19 |
exon 7 | c.1466_1467delTG | p.(Val489Alafs*7) | V489Afs*7 | Pathogenic | VALIDATED |
| | 2018-03-22 | |
exon 7 | c.1501_1510del | p.(Ala501PhefsTer193) | A501Ffs*193 | Likely pathogenic | To be validated |
| | 2024-05-16 | |
exon 7 | c.1504C>T | p.(Arg502Trp) | R502W | Uncertain significance (VUS) | To be validated |
| | 2021-10-07 | |
exon 7 | c.1507C>T | p.(Gln503*) | Q503* | Likely pathogenic | To be validated |
| | 2020-07-10 | |
exon 7 | c.1573C>G | p.(Leu525Val) | L525V | Uncertain significance (VUS) | To be validated |
| | 2024-01-05 | |
exon 7 | c.1639G>A | p.(Ala547Thr) | A547T | Uncertain significance (VUS) | To be validated |
| | 2022-08-16 | |
exon 7 | c.1727dupC | p.(His577Alafs*95) | H577Afs*95 | Pathogenic | To be validated |
| | 2022-02-21 | |
exon 7 | c.1760_1770del11 | p.(Ala588Valfs*80) | A588Vfs*80 | Pathogenic | VALIDATED |
| | 2018-03-23 | |
exon 2 | c.1777C>T | p.(Gln593*) | Q593X | Likely pathogenic | To be validated |
| | 2021-05-27 | 2021-10-04 |
exon 7 | c.1804A>T | p.(Thr602Ser) | T602S | Likely pathogenic | To be validated |
| | 2022-02-21 | |
exon 7 | c.1807G>A | p.(Gly603Arg) | G603R | Uncertain significance (VUS) | To be validated |
| | 2021-10-07 | |
exon 7 | c.1809delG | p.(Thr604Argfs*93) | p.T604Rfs*93 | Pathogenic | VALIDATED |
| | 2017-04-28 | 2022-01-19 |
exon 7 | c.1906C>T | p.(His636Ter) | p.His636fsTer1 | Likely pathogenic | To be validated |
| | 2019-03-04 | 2021-02-19 |
intron 7 | c.1906+1G>C | p.? | c.1906+1G>C | Likely pathogenic | To be validated |
| | 2021-08-26 | 2021-08-27 |
intron 7 | c.1906+1G>A | p.? | F637E*2 | Pathogenic | VALIDATED |
| | 2018-03-23 | 2018-08-21 |
intron 7 | c.1906+2T>G | p.? | c.1906+2T>G | Likely pathogenic | To be validated |
| | 2022-08-16 | |
exon 8 | c.1939A>C | p.(Thr647Pro) | T647P | Uncertain significance (VUS) | To be validated |
| | 2019-06-12 | 2021-02-19 |
exon 8 | c.2036T>C | p.(Ile679Thr) | I679T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
intron 8 | c.2088+5G>C | p.? | H636Efs55 | Pathogenic | VALIDATED |
| | 2018-03-23 | 2018-08-21 |
exon 9 | c.2126A>G | p.(Gln709Arg) | Q709R | Likely benign | To be validated |
| | 2021-05-27 | 2021-05-27 |
exon 9 | c.2174T>C | p.(Leu725Pro) | L725P | Uncertain significance (VUS) | To be validated |
| | 2022-04-19 | |
exon 9 | c.2209delC | p.(Gln737Serfs*79) | Q737Sfs*79 | Pathogenic | VALIDATED |
| | 2018-03-23 | |
exon 9 | c.2357A>C | p.(Lys786Thr) | K786T | Uncertain significance (VUS) | To be validated |
| | 2024-03-21 | |