exon 2 | c.149G>A | p.(Cys50Tyr) | C50Y | Likely pathogenic | To be validated |
| | 2020-08-28 | |
exon 2 | c.185G>A | p.(Arg62Gln) | R62Q | Not classified | To be validated |
| | 2015-12-07 | |
exon 2 | c.205C>T | p.(Arg69Trp) | R69W | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 2 | c.206G>A | p.(Arg69Gln) | R69Q | Not classified | To be validated |
| | 2013-06-26 | |
exon 3 | c.234G>T | p.(Lys78Asn) | K78N | Not classified | To be validated |
| | 2020-01-28 | |
exon 3 | c.277A>C | p.(Lys93Gln) | K93Q | Likely pathogenic | To be validated |
| | 2020-06-02 | 2021-01-14 |
exon 3 | c.329T>C | p.(Val110Ala) | V110A | Not classified | To be validated |
| | 2019-05-13 | 2019-05-14 |
exon 3 | c.349G>A | p.(Ser116_Gly117ins22) | G117S | Not classified | To be validated |
| | 2013-04-15 | 2022-01-19 |
intron 3 | c.349+1G>A | p.(Ser116_Gly117ins22) | c.349+1G>A | Not classified | To be validated |
| | 2013-04-15 | |
intron 3 | c.349+5G>A | p.(Ser116_Gly117ins22) | c.349+5G>A | Not classified | To be validated |
| | 2013-04-15 | 2022-01-19 |
exon 4 | c.355A>G | p.(Met119Val) | M119V | Not classified | To be validated |
| | 2014-08-01 | |
exon 4 | c.356T>A | p.(Met119Lys) | M119K | Pathogenic | To be validated |
| | 2021-01-19 | 2022-09-12 |
exon 4 | c.356T>G | p.(Met119Arg) | M119R | Likely pathogenic | To be validated |
| | 2021-01-11 | |
exon 4 | c.356T>C | p.(Met119Thr) | M119T | Not classified | To be validated |
| | 2021-01-11 | 2021-01-11 |
exon 4 | c.362C>T | p.(Thr121Ile) | T121I | Not classified | To be validated |
| | 2019-05-13 | 2019-05-14 |
exon 4 | c.371T>C | p.(Leu124Pro) | L124P | Not classified | To be validated |
| | 2014-10-31 | 2014-10-31 |
exon 4 | c.380G>C | p.(Cys127Ser) | C127S | Not classified | To be validated |
| | 2021-01-11 | |
exon 4 | c.407A>T | p.(Gln136Leu) | Q136L | Not classified | To be validated |
| | 2023-03-03 | |
exon 4 | c.412_414delGAG | p.(Glu138del) | E138del | Not classified | To be validated |
| | 2013-04-15 | 2013-04-15 |
exon 4 | c.412G>A | p.(Glu138Lys) | E138K | Not classified | To be validated |
| | 2021-01-11 | 2021-05-27 |
exon 4 | c.413A>C | p.(Glu138Ala) | E138A | Not classified | To be validated |
| | 2013-04-15 | 2022-01-19 |
exon 4 | c.446T>G | p.(Leu149Arg) | L149R | Not classified | To be validated |
| | 2019-08-21 | |
exon 4 | c.449T>G | p.(Leu150Arg) | L150R | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 4 | c.451C>T | p.(Arg151Trp) | R151W | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 4 | c.452G>A | p.(Arg151Gln) | R151Q | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 4 | c.458G>C | p.(Cys153Ser) | C153S | Likely pathogenic | To be validated |
| | 2020-06-02 | |
exon 4 | c.467T>C | p.(Leu156Pro) | L156P | Not classified | To be validated |
| | 2013-04-15 | |
exon 4 | c.470A>C | p.(Gln157Pro) | Q157P | Not classified | To be validated |
| | 2021-01-11 | |
exon 4 | c.497G>A | p.(Arg166His) | R166H | Not classified | To be validated |
| | 2014-08-01 | |
exon 4 | c.526G>C | p.(Asp176His) | D176H | Not classified | To be validated |
| | 2014-02-05 | 2020-08-24 |
exon 4 | c.536G>A | p.(Arg179His) | R179H | Not classified | To be validated |
| | 2020-08-28 | |
exon 4 | c.544C>T | p.(Arg182Cys) | R182C | Not classified | To be validated |
| | 2020-01-28 | |
exon 4 | c.589G>A | p.(Glu197Lys) | E197K | Not classified | To be validated |
| | 2015-12-04 | 2015-12-08 |
exon 4 | c.599G>A | p.(Ser200Asn) | S200N | Not classified | To be validated |
| | 2013-06-26 | |
exon 4 | c.626T>C | p.(Leu209Pro) | L209P | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 4 | c.646G>A | p.(Ala216Thr) | A216T | Not classified | To be validated |
| | 2019-05-13 | |
exon 4 | c.652C>T | p.(Arg218Cys) | R218C | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 5 | c.760G>A | p.(Ala254Thr) | A254T | Uncertain significance (VUS) | To be validated |
| | 2020-07-07 | |
exon 5 | c.796C>T | p.(Arg266Cys) | R266C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
exon 6 | c.892C>T | p.(Arg298*) | R298*Stop | Not classified | To be validated |
| | 2021-01-11 | |
exon 6 | c.931C>T | p.(Arg311Trp) | R311W | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
exon 6 | c.956G>A | p.(Arg319Gln) | R319Q | Uncertain significance (VUS) | To be validated |
| | 2021-01-11 | 2021-02-11 |
exon 7 | c.1012A>G | p.(Met338Val) | M338V | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 7 | c.1049T>C | p.(Leu350Pro) | L350P | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 7 | c.1060G>A | p.(Val354Met) | V354M | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
intron 7 | c.1090-2A>G | p.? | c.1090-2A>G | Not classified | To be validated |
| | 2015-12-23 | |
exon 8 | c.1091C>T | p.(Ala364Val) | A364V | Not classified | To be validated |
| | 2015-12-04 | |
exon 9 | c.1258A>G | p.(Thr420Ala) | T420A | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 9 | c.1264G>A | p.(Glu422Lys) | E422K | Likely benign | To be validated |
| | 2019-07-16 | |
exon 9 | c.1288C>T | p.(Arg430Trp) | R430W | Not classified | To be validated |
| | 2017-08-07 | 2017-08-25 |
intron 9 | c.1356+5G>A | p.? | c.1356+5G>A | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
intron 9 | c.1357-1G>A | p.? | c.1357-1G>A | Uncertain significance (VUS) | To be validated |
| | 2019-03-27 | |
exon 10 | c.1436C>G | p.(Pro479Arg) | P479R | Likely pathogenic | To be validated |
| | 2020-08-28 | |
exon 10 | c.1488del | p.(Trp497Glyfs*32) | c.1488del | Likely benign | To be validated |
| | 2019-10-01 | |
exon 11 | c.1517C>T | p.(Pro506Leu) | P506L | Likely benign | To be validated |
| | 2019-07-16 | |
exon 11 | c.1530dupG | p.(Ala512Serfs*6) | A512Sfs*6 | Not classified | To be validated |
| | 2019-05-13 | |
exon 11 | c.1534G>A | p.(Ala512Thr) | A512T | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | |
exon 11 | c.1583T>C | p.(Leu528Pro) | L528P | Not classified | To be validated |
| | 2021-01-11 | |
exon 12 | c.1641G>C | p.(Arg547Ser) | R547S | Not classified | To be validated |
| | 2014-03-10 | |
exon 13 | c.1663G>A | p.(Val555Ile) | V555I | Likely benign | To be validated |
| | 2019-07-16 | |
exon 13 | c.1772C>T | p.(Thr591Met) | T591M | Not classified | To be validated |
| | 2014-08-01 | 2014-08-05 |
exon 13 | c.1799C>T | p.(Pro600Leu) | P600L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
exon 13 | c.1805C>T | p.(Ser602Leu) | S602L | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 13 | c.1808C>T | p.(Ala603Val) | A603V | Not classified | To be validated |
| | 2019-05-13 | 2019-05-29 |
exon 13 | c.1829G>A | p.(Arg610His) | R610H | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | |
exon 14 | c.1916C>G | p.(Ala639Gly) | A639G | Not classified | To be validated |
| | 2015-12-07 | 2015-12-08 |
exon 14 | c.1942G>A | p.(Gly648Ser) | G648S | Likely pathogenic | To be validated |
| | 2020-08-28 | 2020-09-14 |
exon 15 | c.2044C>T | p.(Arg682Trp) | R682W | Likely benign | To be validated |
| | 2019-07-16 | |
exon 15 | c.2172C>A | p.(Tyr724*) | Y724*Stop | Not classified | To be validated |
| | 2021-01-11 | |
intron 17 | c.2399-4A>G | p.? | c.2399-4A>G | Not classified | To be validated |
| | 2014-03-10 | |
exon 18 | c.2458C>T | p.(Arg820Trp) | R820W | Not classified | To be validated |
| | 2014-03-10 | |
exon 18 | c.2476C>T | p.(Arg826Trp) | R826W | Not classified | To be validated |
| | 2013-06-26 | |
exon 18 | c.2539C>T | p.(Leu847Phe) | L847F | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
exon 19 | c.2648G>A | p.(Arg883His) | R883H | Not classified | To be validated |
| | 2014-03-10 | |
exon 20 | c.2789_2791del | p.(Lys930del) | c.2789_2791del | Uncertain significance (VUS) | To be validated |
| | 2019-03-27 | |
exon 21 | c.2870_2872del | p.(Glu957del) | E957DEL | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
exon 21 | c.2919C>G | p.(Asp973Glu) | D973E | Likely benign | To be validated |
| | 2019-05-13 | |
3UT | c.*18C>T | p.? | *18C>T | Not classified | To be validated |
| | 2019-05-13 | 2019-05-14 |
3UT | c.*19G>A | p.? | *19G>A | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-29 |