| exon 1 | c.1A>T | p.(Met1?) | M1? | Likely pathogenic | To be validated |
| | 2022-03-22 | |
| exon 2 | c.11T>A | p.(Val4Asp) | V4D | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
| exon 2 | c.38C>A | p.(Ser13*) | S13* | Likely pathogenic | To be validated |
| | 2019-05-13 | 2022-02-10 |
| exon 2 | c.42del | p.(Ser15Profs*86) | S15Pfs*86 | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 2 | c.52A>G | p.(Arg18Gly) | R18G | Benign | To be validated |
| | 2020-11-06 | |
| exon 2 | c.122del | p.(Pro41Leufs*60) | P41Lfs*60 | Likely pathogenic | To be validated |
| | 2022-02-10 | 2022-04-21 |
| exon 2 | c.138delC | p.(Glu47Argfs*54) | E47Rfs*54 | Likely pathogenic | To be validated |
| | 2019-05-13 | |
| exon 2 | c.182G>T | p.(Gly61Val) | G61V | Likely pathogenic | To be validated |
| | 2022-02-09 | |
| exon 2 | c.243del | p.(Lys81Asnfs*20) | K81Nfs | Pathogenic | To be validated |
| | 2019-01-22 | |
| intron 2 | c.300+1G>A | p.? | c.300+1G>A | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| intron 2 | c.300+1G>C | p.(Asn101Leufs*34) | N101LfsX34 | Likely pathogenic | To be validated |
| | 2014-07-24 | 2022-02-10 |
| intron 2 | c.300+2T>G | p.? | c.300+2T>G | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| intron 2 | c.301-2A>G | p.? | c.301-2A>G | Likely pathogenic | To be validated |
| | 2022-08-19 | |
| exon 3 | c.303_319dup | p.(Leu107Profs*39) | c.302_303insCTACTTTGAGAGCTACC | Likely pathogenic | To be validated |
| | 2019-01-22 | 2019-01-22 |
| exon 3 | c.308_309del | p.(Phe103*) | F103X | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 3 | c.325G>A | p.(Val109Ile) | V109I | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2022-02-10 |
| exon 3 | c.347T>G | p.(Met116Arg) | M116R | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| intron 3 | c.384-426_610+440del | p.? | chr10:g:73110893-73111985 (delEx4) | Likely pathogenic | To be validated |
| | 2020-01-28 | 2020-04-17 |
| exon 4 | c.400C>T | p.(Arg134Cys) | R133C | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 4 | c.401G>A | p.(Arg134His) | R134H | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 4 | c.416T>C | p.(Leu139Pro) | L139P | Likely pathogenic | To be validated |
| | 2020-08-28 | |
| exon 4 | c.538A>G | p.(Thr180Ala) | T180A | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2022-02-10 |
| exon 4 | c.552C>G | p.(Ser184Arg) | S184R | Likely pathogenic | To be validated |
| | 2022-02-10 | |
| exon 4 | c.607T>C | p.(Ser203Pro) | S203P | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| intron 4 | c.610+1G>C | p.? | c.610+1G>C | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 5 | c.625G>A | p.(Gly209Arg) | c.625G>A | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 5 | c.674A>G | p.(Asp225Gly) | D225G | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
| exon 5 | c.688G>A | p.(Ala230Thr) | A230T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2022-02-10 |
| exon 5 | c.707C>T | p.(Thr236Met) | T236M | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2023-07-31 |
| exon 5 | c.708G>A | p.(Thr236=) | T236T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2022-02-10 |
| exon 5 | c.773G>C | p.(Arg258Thr) | R258T | Likely pathogenic | To be validated |
| | 2024-05-14 | |
| intron 5 | c.774-2A>G | p.? | c.774-2A>G | Likely pathogenic | To be validated |
| | 2019-01-21 | |
| exon 6 | c.933T>A | p.(Cys311*) | C310X | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.940del | p.(Tyr314Thrfs*91) | Y314Tfs | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.946T>G | p.(Phe316Val) | F316V | Uncertain significance (VUS) | To be validated |
| | 2015-12-04 | 2022-02-10 |
| exon 6 | c.970C>T | p.(Pro324Ser) | P324S | Pathogenic | To be validated |
| | 2022-08-19 | |
| exon 6 | c.971C>T | p.(Pro324Leu) | P324L | Likely pathogenic | To be validated |
| | 2019-01-22 | 2021-07-19 |
| exon 6 | c.976A>G | p.(Ile326Val) | I326V | Benign | To be validated |
| | 2020-11-06 | 2021-08-23 |
| exon 6 | c.1045del | p.(Leu349Serfs*56) | c.1045delC | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.1087C>T | p.(Arg363Trp) | c.1087C>T | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.1088G>A | p.(Arg363Gln) | R363Q | Pathogenic | To be validated |
| | 2014-07-24 | 2022-02-10 |
| exon 6 | c.1099G>A | p.(Ala367Thr) | A367T | Likely pathogenic | To be validated |
| | 2022-02-09 | |
| exon 6 | c.1155_1156delinsGT | p.(Arg386Trp) | R386W | Likely pathogenic | To be validated |
| | 2022-02-09 | |
| exon 6 | c.1157G>A | p.(Arg386Gln) | R386Q | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.1172C>A | p.(Pro391His) | c.1172C>A | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.1234G>A | p.(Asp412Asn) | D412N | Likely pathogenic | To be validated |
| | 2024-03-27 | |
| exon 6 | c.1269_1270delinsT | p.(Leu424Serfs*29) | c.1269_1270delinsA | Likely pathogenic | To be validated |
| | 2015-05-16 | 2021-08-25 |
| exon 6 | c.1279G>A | p.(Gly427Ser) | G427S | Pathogenic | To be validated |
| | 2019-01-21 | |
| exon 6 | c.1292C>T | p.(Thr431Ile) | T431I | Uncertain significance (VUS) | To be validated |
| | 2024-03-27 | |
| exon 6 | c.1309G>A | p.(Gly437Arg) | G437R | Pathogenic | To be validated |
| | 2019-01-22 | 2019-01-22 |
| exon 6 | c.1330G>T | p.(Glu444*) | E444X | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.1339G>A | p.(Glu447Lys) | c.1339G>A | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| exon 6 | c.1346C>G | p.(Thr449Arg) | T449R | Likely pathogenic | To be validated |
| | 2019-01-22 | |
| 3UT | c.*413G>A | p.? | c.1893G>A | Likely pathogenic | To be validated |
| | 2022-02-09 | |
