| 5 flanking | c.-10646_-46-4514del | p.? | del EXON 1 | Pathogenic | VALIDATED |
| | 2017-04-27 | 2019-10-18 |
| 5 flanking | c.-2484del | p.? | c.-114delC | Uncertain significance (VUS) | VALIDATED |
| | 2017-04-27 | 2019-04-18 |
| 5 flanking | c.0 | p.0 | del(22)(q11.)1 | Not classified | To be validated |
| | 2019-03-05 | 2020-05-12 |
| intron 1 | c.-47+2T>C | p.0 | c.-47+2T>C | Likely pathogenic | To be validated |
| | 2021-01-11 | |
| 5UT | c.-43C>T | p.? | -43C>T | Uncertain significance (VUS) | To be validated |
| | 2019-05-21 | |
| 5UT | c.-42G>A | p.? | c.-42G>A | Likely benign | To be validated |
| | 2024-02-15 | 2024-02-15 |
| 5UT | c.-31A>G | p.? | -31A>G | Not classified | To be validated |
| | 2019-05-21 | |
| 5UT | c.-14G>T | p.? | c.-14G>T | Uncertain significance (VUS) | To be validated |
| | 2022-01-11 | |
| exon 2 | c.2T>C | p.? | M1T | Pathogenic | VALIDATED |
| | 2014-02-25 | 2019-10-18 |
| exon 2 | c.17C>T | p.(Pro6Leu) | P6L | Uncertain significance (VUS) | To be validated |
| | 2023-09-14 | |
| exon 2 | c.25C>T | p.(Arg9Trp) | R9W | Likely pathogenic | To be validated |
| | 2019-05-21 | 2020-01-27 |
| exon 2 | c.73G>T | p.(Gly25Cys) | G25C | Likely pathogenic | VALIDATED |
| | 2014-06-13 | 2014-09-17 |
| exon 2 | c.89T>C | p.(Ile30Thr) | I30T | Uncertain significance (VUS) | To be validated |
| | 2021-01-19 | |
| exon 2 | c.97dup | p.(Thr33AsnfsTer29) | T33Nfs*29 | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 2 | c.100C>T | p.(Arg34Trp) | R34W | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-02-28 |
| exon 2 | c.133C>T | p.(Arg45Trp) | R45W | Uncertain significance (VUS) | To be validated |
| | 2019-05-21 | |
| exon 2 | c.138G>C | p.(Leu46=) | c.138G>C | Benign | VALIDATED |
| | 2018-03-30 | |
| exon 2 | c.139G>A | p.(Gly47Arg) | G47R | Pathogenic | VALIDATED |
| | 2014-02-25 | 2022-01-19 |
| exon 2 | c.139G>C | p.(Gly47Arg) | G47R GC | Pathogenic | To be validated |
| | 2021-05-27 | 2021-12-21 |
| exon 2 | c.139G>T | p.(Gly47Trp) | G47W | Likely pathogenic | VALIDATED |
| | 2015-09-17 | 2019-11-20 |
| exon 2 | c.140G>C | p.(Gly47Ala) | G47A | Pathogenic | VALIDATED |
| | 2014-02-25 | 2014-03-11 |
| exon 2 | c.140G>T | p.(Gly47Val) | G47V | Likely pathogenic | VALIDATED |
| | 2014-02-26 | 2014-03-11 |
| exon 2 | c.142G>A | p.(Gly48Arg) | G48R | Likely pathogenic | To be validated |
| | 2020-11-27 | |
| exon 2 | c.143dup | p.(Arg49Alafs*13) | R49Afs*13 | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| exon 2 | c.144del | p.(Arg49Glyfs*4) | c.144delG | Pathogenic | VALIDATED |
| | 2014-09-24 | 2023-02-06 |
| exon 2 | c.145C>T | p.(Arg49Trp) | R49W | Uncertain significance (VUS) | VALIDATED |
| | 2017-01-15 | 2017-09-11 |
| exon 2 | c.158del | p.(Asn53Thrfs*12) | c.158del | Likely pathogenic | To be validated |
| | 2019-02-28 | |
| exon 2 | c.159C>T | p.(Asn53=) | N53N | Benign | VALIDATED |
| | 2014-03-11 | |
| exon 2 | c.163_165del | p.(Lys55del) | K13del | Likely pathogenic | VALIDATED |
| | 2017-04-27 | |
| exon 2 | c.232_322+105delinsATG | p.? | c.232_322+105delinsATG | Not classified | To be validated |
| | 2021-05-27 | |
| exon 2 | c.272del | p.(His91Leufs*12) | H91Lfs | Pathogenic | To be validated |
| | 2022-02-21 | |
| exon 2 | c.272A>G | p.(His91Arg) | H91R | Not classified | To be validated |
| | 2021-05-27 | |
| exon 2 | c.278T>C | p.(Ile93Thr) | I93T | Likely pathogenic | VALIDATED |
| | 2014-02-25 | 2016-12-26 |
| exon 2 | c.316C>T | p.(Pro106Ser) | P106S | Likely pathogenic | To be validated |
| | 2022-02-21 | |
| exon 2 | c.321del | p.(Ala109Leufs*11) | p.A109Lfs*11 | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 3 | c.326C>A | p.(Ala109Asp) | A109D | Pathogenic | VALIDATED |
| | 2014-02-25 | 2014-03-11 |
| exon 3 | c.334C>T | p.(His112Tyr) | H112Y | Likely pathogenic | To be validated |
| | 2021-01-11 | |
| exon 3 | c.336C>G | p.(His112Gln) | H112Q | Pathogenic | VALIDATED |
| | 2014-02-25 | 2014-03-11 |
| exon 3 | c.346del | p.(Ile116Leufs*4) | 116Lfs*4 | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 3 | c.385A>C | p.(Thr129Pro) | T129P | Not classified | To be validated |
| | 2018-10-07 | |
| exon 3 | c.389_407del | p.(Tyr130SerfsTer48) | p.(Y130Sfs*48) | Likely pathogenic | To be validated |
| | 2023-02-09 | |
| exon 3 | c.393del | p.(Arg131Serfs*53) | R131Sfs | Likely pathogenic | To be validated |
| | 2021-08-26 | |
| exon 3 | c.396_397del | p.(His133Leufs*44) | c.396_397del | Likely pathogenic | To be validated |
| | 2021-03-09 | 2021-04-19 |
| exon 3 | c.401G>A | p.(Cys134Tyr) | C134Y | Pathogenic | To be validated |
| | 2024-07-16 | 2024-08-12 |
| exon 3 | c.427del | p.(Ile143Serfs*41) | I143Sfs*41 | Pathogenic | VALIDATED |
| | 2017-04-27 | 2018-04-18 |
| exon 3 | c.452del | p.(Pro151Glnfs*33) | P151QfsX | Not classified | To be validated |
| | 2022-08-10 | 2022-08-10 |
| exon 3 | c.464del | p.(Pro155Hisfs*29) | P155Hfs*29 | Not classified | To be validated |
| | 2023-03-03 | 2023-03-13 |
| exon 3 | c.476G>A | p.(Cys159Tyr) | C159Y | Likely pathogenic | To be validated |
| | 2019-05-21 | 2022-04-27 |
| exon 3 | c.484T>C | p.(Trp162Arg) | W162R | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 3 | c.505C>G | p.(Arg169Gly) | R169G | Pathogenic | To be validated |
| | 2021-05-27 | |
| exon 3 | c.506G>A | p.(Arg169Gln) | R169Q | Pathogenic | VALIDATED |
| | 2014-02-25 | 2014-03-11 |
| exon 3 | c.533T>C | p.(Phe178Ser) | F178S | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| intron 3 | c.542+1G>A | p.? | c.542+1G>A | Likely pathogenic | To be validated |
| | 2019-03-06 | 2019-03-06 |
| intron 3 | c.542+7A>G | p.? | 542+7A>G | Uncertain significance (VUS) | To be validated |
| | 2019-05-21 | |
| exon 4 | c.548T>C | p.(Leu183Pro) | L183P | Likely pathogenic | To be validated |
| | 2019-07-16 | 2022-10-02 |
| exon 4 | c.559A>C | p.(Thr187Pro) | T187P | Likely pathogenic | To be validated |
| | 2022-08-10 | 2022-08-11 |
| exon 4 | c.562C>G | p.(Leu188Val) | L188V | Likely pathogenic | To be validated |
| | 2021-01-11 | |
| exon 4 | c.563T>C | p.(Leu188Pro) | L188P | Likely pathogenic | To be validated |
| | 2020-04-02 | 2022-02-21 |
| exon 4 | c.578C>T | p.(Pro193Leu) | P193L | Likely pathogenic | VALIDATED |
| | 2014-10-06 | 2019-01-15 |
| exon 4 | c.608T>C | p.(Val203Ala) | V203A | Uncertain significance (VUS) | To be validated |
| | 2022-04-19 | |
| exon 4 | c.612G>C | p.(Trp204Cys) | W204C | Likely pathogenic | To be validated |
| | 2022-02-21 | |
| exon 4 | c.612G>T | p.(Trp204Cys) | W204C G>T | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-03-14 |
| exon 4 | c.620T>C | p.(Phe207Ser) | P207S | Not classified | To be validated |
| | 2019-01-15 | |
| exon 4 | c.629delT | p.(Ile210Thrfs*57) | I210Tfs | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 4 | c.634_636delTTC | p.(Phe212del) | F212del | Likely pathogenic | To be validated |
| | 2019-11-08 | 2019-12-09 |
| exon 4 | c.650T>A | p.(Val217Asp) | V217D | Likely pathogenic | To be validated |
| | 2020-04-02 | 2020-12-07 |
| exon 4 | c.660C>A | p.(Tyr220*) | Y220X | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| exon 4 | c.680_681delAT | p.(Tyr227Cysfs*27) | Y227fs | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 4 | c.695T>C | p.(Met232Thr) | M232T | Likely pathogenic | To be validated |
| | 2022-02-21 | |
| exon 4 | c.706_708del | p.(Tyr236del) | Y236del | Likely pathogenic | To be validated |
| | 2019-03-06 | |
| exon 4 | c.709del | p.(Glu237Argfs*30) | c.709delC (p.Glu237fs) | Likely pathogenic | To be validated |
| | 2021-08-26 | |
| exon 4 | c.712G>A | p.(Asp238Asn) | D238N | Likely pathogenic | VALIDATED |
| | 2017-04-27 | 2018-04-18 |
| exon 4 | c.714_738dup | p.(Ala247Glnfs*16) | A247Qfs*16 | Not classified | To be validated |
| | 2022-02-21 | |
| exon 4 | c.728T>G | p.(Met243Arg) | M243R | Likely pathogenic | VALIDATED |
| | 2017-04-27 | |
| exon 4 | c.731A>C | p.(Glu244Ala) | E244A | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-02-28 |
| exon 4 | c.740C>T | p.(Ala247Val) | A247V | Uncertain significance (VUS) | VALIDATED |
| | 2017-01-15 | 2018-10-02 |
| exon 4 | c.746T>C | p.(Leu249Pro) | L249P | Likely pathogenic | To be validated |
| | 2018-10-09 | 2023-09-25 |
| exon 4 | c.752C>T | p.(Pro251Leu) | P251L | Likely pathogenic | VALIDATED |
| | 2014-02-26 | 2014-03-11 |
| exon 4 | c.753G>A | p.(Pro251Pro) | P251P | Likely pathogenic | VALIDATED |
| | 2017-04-27 | 2020-03-02 |
| intron 4 | c.753+2T>A | p.? | 753+2T>A | Not classified | To be validated |
| | 2019-05-21 | |
| intron 4 | c.753+168_754-229_1081+139_1082-92del | p.(Val252Thrfs*7) | Del E5-6-7 | Pathogenic | VALIDATED |
| | 2018-03-29 | 2019-04-12 |
| exon 5 | c.781delinsCCATA | p.(Asp261Profs*2) | D261Pfs*2 | Likely pathogenic | To be validated |
| | 2019-03-05 | 2019-03-11 |
| exon 5 | c.791G>C | p.(Trp264Ser) | W264S | Likely pathogenic | VALIDATED |
| | 2014-02-26 | 2014-03-11 |
| exon 5 | c.792G>A | p.Trp264X | W264Ter | Pathogenic | To be validated |
| | 2022-10-07 | 2022-10-07 |
| exon 5 | c.794C>G | p.(Ser265*) | S265X | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| exon 5 | c.849T>G | p.(Phe283Leu) | F283L | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 5 | c.872C>T | p.(Ser291Leu) | S291L | Likely pathogenic | VALIDATED |
| | 2017-04-27 | 2018-04-18 |
| intron 5 | c.882-2A>G | p.? | c.882-2A>G | Likely pathogenic | To be validated |
| | 2019-07-11 | |
| exon 6 | c.916C>T | p.(Arg306*) | R306* | Pathogenic | VALIDATED |
| | 2014-04-18 | |
| exon 6 | c.927G>A | p.(Met309Ile) | M309I | Likely benign | VALIDATED |
| | 2017-01-15 | 2018-10-02 |
| exon 6 | c.932T>G | p.(Leu311Arg) | L311R | Likely pathogenic | To be validated |
| | 2019-07-11 | |
| exon 6 | c.934C>T | p.(Arg312*) | R312ter | Likely pathogenic | VALIDATED |
| | 2018-10-09 | 2018-10-22 |
| exon 6 | c.950C>T | p.(Thr317Met) | T317M | Likely benign | To be validated |
| | 2019-07-22 | 2019-09-12 |
| exon 6 | c.962G>C | p.(Gly321Ala) | G321A | Likely pathogenic | To be validated |
| | 2021-01-11 | |
| exon 6 | c.962G>A | p.(Gly321Glu) | G321E | Likely pathogenic | VALIDATED |
| | 2018-03-23 | |
| intron 6 | c.972+3A>G | p.? | c.972+3A>G | Likely pathogenic | To be validated |
| | 2020-01-28 | |
| intron 6 | c.973-314_1081+352del | p.(Val325Thrfs*7) | V325Tfs* | Likely pathogenic | To be validated |
| | 2022-08-10 | 2022-08-10 |
| intron 6 | c.973-69C>G | p.? | c.973-69C->G | Likely benign | VALIDATED |
| | 2017-12-14 | 2019-10-18 |
| intron 6 | c.973-2A>G | p.? | c.973-2A>G | Likely pathogenic | VALIDATED |
| | 2015-07-14 | 2021-02-04 |
| intron 6 | c.973-1G>A | p.? | c.973-1G>A | Likely pathogenic | To be validated |
| | 2019-03-06 | 2019-03-06 |
| exon 7 | c.(972+359_973-153)_(1081+149_1082-200)del | p.(Val325Thrfs*7) | delEx7 | Pathogenic | VALIDATED |
| | 2014-09-24 | 2020-11-25 |
| exon 7 | c.(?_973)_(1081_?)dup | p.0 | Dup Exon7 | Likely pathogenic | To be validated |
| | 2021-01-11 | 2021-01-11 |
| exon 7 | c.976G>A | p.(Gly326Arg) | G326V | Likely pathogenic | To be validated |
| | 2022-02-21 | |
| exon 7 | c.982G>A | p.(Glu328Lys) | E328K | Likely pathogenic | VALIDATED |
| | 2017-04-27 | |
| exon 7 | c.984G>C | p.(Glu328Asp) | E328D | Likely pathogenic | VALIDATED |
| | 2018-10-09 | 2018-10-22 |
| exon 7 | c.985G>A | p.(Asp329Asn) | D329N | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-03-14 |
| exon 7 | c.1004A>G | p.(His335Arg) | H335R | Benign | VALIDATED |
| | 2014-09-24 | 2014-10-06 |
| exon 7 | c.1031C>T | p.(Pro344Leu) | P344L | Likely pathogenic | VALIDATED |
| | 2018-10-09 | 2018-10-22 |
| exon 7 | c.1045G>A | p.(Val349Ile) | V349I | Likely benign | VALIDATED |
| | 2017-06-24 | 2018-10-02 |
| exon 7 | c.1052T>A | p.(Leu351Gln) | L351Q | Likely pathogenic | To be validated |
| | 2019-05-21 | 2020-01-27 |
| exon 7 | c.1057T>C | p.(Tyr353His) | Y353H | Likely pathogenic | To be validated |
| | 2019-04-04 | |
| exon 7 | c.1065C>A | p.(Phe355Leu) | F355L | Likely pathogenic | VALIDATED |
| | 2017-04-27 | |
| exon 7 | c.1069G>A | p.(Ala357Thr) | A357T | Likely pathogenic | To be validated |
| | 2019-05-21 | 2020-01-27 |
| exon 7 | c.1072G>A | p.(Gly358Arg) | G358R | Likely pathogenic | To be validated |
| | 2019-03-05 | 2019-05-22 |
| exon 7 | c.1078A>G | p.(Thr360Ala) | T119A | Likely pathogenic | VALIDATED |
| | 2014-08-01 | 2018-10-22 |
| intron 7 | c.1081+30C>A | p.? | c.1081+30C->A | Uncertain significance (VUS) | VALIDATED |
| | 2017-12-14 | 2019-10-18 |
| intron 7 | c.1081+139_1082-92del | p.? | c.(1081+139_1082-92)del | Likely pathogenic | To be validated |
| | 2021-08-26 | |
| intron 7 | c.1081+1613_*8176del | p.(Asp361_Lys511delinsVal) | DelEx8-9-10 | Not classified | To be validated |
| | 2018-10-08 | 2019-05-22 |
| exon 8 | c.1110C>A | p.(Asn370Lys) | N370K | Likely pathogenic | VALIDATED |
| | 2017-04-27 | 2017-04-28 |
| exon 8 | c.1147G>A | p.(Gly383Ser) | G142S | Likely pathogenic | VALIDATED |
| | 2014-08-01 | 2018-10-22 |
| exon 8 | c.1148G>A | p.(Gly383Asp) | G383D | Pathogenic | To be validated |
| | 2020-08-28 | 2020-12-04 |
| exon 8 | c.1173C>G | p.(His391Gln) | H391Q | Likely pathogenic | To be validated |
| | 2019-05-21 | |
| exon 8 | c.1196G>A | p.(Trp399*) | W399X | Likely pathogenic | To be validated |
| | 2020-04-02 | 2020-04-02 |
| exon 8 | c.1213A>T | p.(Ile405Leu) | I405L | Not classified | To be validated |
| | 2019-05-21 | |
| exon 8 | c.1223G>A | p.(Cys408Tyr) | C408Y | Pathogenic | VALIDATED |
| | 2017-08-25 | 2017-09-27 |
| exon 8 | c.1225C>T | p.(Pro409Ser) | P409S | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 8 | c.1226C>A | p.(Pro409His) | P409H | Likely pathogenic | To be validated |
| | 2020-08-28 | 2020-12-04 |
| intron 8 | c.1240-5C>G | p.? | c.1240-5C>G | Benign | VALIDATED |
| | 2014-09-24 | |
| exon 9 | c.1240G>A | p.(Val414Met) | V372M | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| exon 9 | c.1269C>G | p.(Asn423Lys) | N423K | Likely pathogenic | To be validated |
| | 2021-01-11 | |
| exon 9 | c.1273C>G | p.(Pro425Ala) | P425A | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-03-14 |
| exon 9 | c.1303C>G | p.(Pro435Ala) | P435A | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-03-14 |
| exon 9 | c.1307T>C | p.(Met436Thr) | M436T | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 9 | c.1327C>G | p.(Pro443Ala) | P443A | Pathogenic | To be validated |
| | 2024-07-16 | 2024-08-12 |
| exon 9 | c.1334T>C | p.(Met445Thr) | M445T | Likely pathogenic | To be validated |
| | 2023-02-25 | |
| exon 9 | c.1337T>C | p.(Phe446Ser) | F404S | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| exon 9 | c.1346_1347insTT | p.(Lys449Asnfs*2) | K449Nfs*2 | Not classified | To be validated |
| | 2020-01-28 | |
| exon 9 | c.1348G>T | p.(Gly450Cys) | G450C | Likely pathogenic | VALIDATED |
| | 2017-04-27 | 2018-04-18 |
| exon 9 | c.1352T>G | p.(Leu451Trp) | L451W | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 9 | c.1353G>T | p.(Leu451Phe) | L451F | Likely pathogenic | To be validated |
| | 2019-03-05 | |
| exon 9 | c.1358A>G | p.(Tyr453Cys) | Y453C | Pathogenic | VALIDATED |
| | 2014-02-25 | 2014-03-11 |
| exon 9 | c.1359T>C | p.(Tyr453=) | Y453Y | Benign | VALIDATED |
| | 2014-09-24 | 2015-04-22 |
| exon 9 | c.1360G>C | p.(Asp454His) | D454H | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 9 | c.1367A>G | p.(Tyr456Cys) | Y456C | Likely pathogenic | VALIDATED |
| | 2018-04-04 | |
| exon 9 | c.1373T>A | p.(Val458Asp) | V458D | Likely pathogenic | VALIDATED |
| | 2018-10-07 | |
| exon 9 | c.1379T>A | p.(Met460Lys) | p.(M460K) | Likely pathogenic | To be validated |
| | 2023-02-09 | |
| exon 9 | c.1392dup | p.(Met465Aspfs*4) | M465fsX | Likely pathogenic | To be validated |
| | 2019-11-08 | 2021-05-27 |
| exon 9 | c.1397_1403delAGGCTGA | p.(Lys466Thrfs*2) | K466Tfs*2 | Not classified | To be validated |
| | 2020-01-28 | 2021-03-13 |
| exon 9 | c.1435T>C | p.(Ser479Pro) | S479P | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | |
| intron 9 | c.1442+6T>C | p.? | 1442+6T>C | Uncertain significance (VUS) | To be validated |
| | 2019-05-21 | |
| intron 9 | c.1442+11T>C | p.? | c.1442+11T>C | Benign | VALIDATED |
| | 2014-09-24 | |
| intron 9 | c.1442+31G>A | p.? | c.1442+31G>A | Benign | VALIDATED |
| | 2014-09-24 | |
| intron 9 | c.1443-2A>T | p.? | c.1443-2A>T | Not classified | To be validated |
| | 2020-02-18 | |
| exon 10 | c.1445A>G | p.(Tyr482Cys) | Y482C | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 10 | c.1447_1451del | p.(Ser483Profs*5) | S483Pfs* | Likely pathogenic | To be validated |
| | 2021-08-26 | |
| exon 10 | c.1465G>C | p.(Glu489Gln) | E489Q | Uncertain significance (VUS) | To be validated |
| | 2020-05-22 | |
| exon 10 | c.1467G>C | p.(Glu489Asp) | E489D | Likely benign | To be validated |
| | 2022-08-18 | |
| exon 10 | c.1502G>A | p.(Trp501*) | W501* | Likely pathogenic | To be validated |
| | 2019-07-11 | 2022-02-28 |
| 3UT | c.*159G>A | p.? | *159G>A | Not classified | To be validated |
| | 2019-05-21 | |
