Variants of ABCA4 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Met1Val | exon 1 | ? | not provided | ClinVar |
| p.Leu11Pro | exon 1 | ? | not provided | ClinVar |
| p.Trp15* | exon 1 | ? | not provided | ClinVar |
| p.Arg18Trp | exon 1 | D | Pathogenic | ClinVar |
| p.Arg24Cys | exon 2 | ? | not provided | ClinVar |
| p.Arg24His | exon 2 | ? | not provided | ClinVar |
| p.Trp41* | exon 2 | ? | not provided | ClinVar |
| p.Pro47= | exon 2 | ? | not provided | ClinVar |
| p.Cys54Phe | exon 3 | D | Pathogenic | ClinVar |
| p.Cys54Tyr | exon 3 | ? | not provided | ClinVar |
| p.Asn58Lys | exon 3 | ? | not provided | ClinVar |
| p.Ala60Thr | exon 3 | ? | not provided | ClinVar |
| p.Ala60Val | exon 3 | ? | not provided | ClinVar |
| p.Gly65Glu | exon 3 | D | Pathogenic | ClinVar |
| p.Pro68Arg | exon 3 | ? | not provided | ClinVar |
| p.Pro68Leu | exon 3 | ? | not provided | ClinVar |
| p.Gly72Arg | exon 3 | ? | not provided | ClinVar |
| p.Cys75Gly | exon 3 | ? | not provided | ClinVar |
| p.Val77Glu | exon 3 | ? | not provided | ClinVar |
| p.Asn78= | exon 3 | ? | not provided | ClinVar |
| p.Asn96Asp | exon 3 | ? | not provided | ClinVar |
| p.Asn96His | exon 3 | ? | not provided | ClinVar |
| p.Ser100Pro | exon 3 | ? | not provided | ClinVar |
| p.Pro143Leu | exon 4 | ? | not provided | ClinVar |
| p.Arg152* | exon 5 | ? | not provided | ClinVar |
| p.Arg152Gln | exon 5 | ? | not provided | ClinVar |
| p.Ile156Val | exon 5 | ? | not provided | ClinVar |
| p.Glu161Lys | exon 5 | ? | not provided | ClinVar |
| p.Gly172Ser | exon 5 | ? | not provided | ClinVar |
| p.Gln190His | exon 5 | ? | not provided | ClinVar |
| p.Ala192Thr | exon 6 | ? | not provided | ClinVar |
| p.Ser206Arg | exon 6 | ? | not provided | ClinVar |
| p.Arg212Cys | exon 6 | D | Pathogenic | ClinVar |
| p.Arg212His | exon 6 | N | Benign | ClinVar |
| p.Arg219Thr | exon 6 | ? | not provided | ClinVar |
| p.Arg220Cys | exon 6 | ? | not provided | ClinVar |
| p.Leu244Pro | exon 6 | ? | not provided | ClinVar |
| p.Asn247Ile | exon 6 | ? | not provided | ClinVar |
| p.Asn247Ser | exon 6 | ? | not provided | ClinVar |
| p.Asp249Gly | exon 6 | ? | not provided | ClinVar |
| p.Arg255Cys | exon 6 | D | Pathogenic | ClinVar |
| p.Arg255Gly | exon 6 | ? | not provided | ClinVar |
| p.Val256= | exon 6 | ? | not provided | ClinVar |
| p.Arg290= | exon 8 | ? | Uncertain significance | ClinVar |
| p.Pro291Leu | exon 8 | ? | Uncertain significance | ClinVar |
| p.Pro291= | exon 8 | ? | not provided | ClinVar |
| p.Gln294* | exon 8 | D | Pathogenic | ClinVar |
| p.Thr300Asn | exon 8 | ? | not provided | ClinVar |
| p.Pro309Arg | exon 8 | ? | not provided | ClinVar |
| p.Glu310Gln | exon 8 | ? | not provided | ClinVar |
| p.Thr311= | exon 8 | ? | not provided | ClinVar |
| p.Pro327= | exon 8 | ? | not provided | ClinVar |
| p.Glu328* | exon 8 | ? | not provided | ClinVar |
| p.Glu328Val | exon 8 | ? | not provided | ClinVar |
| p.Gly330Asp | exon 8 | ? | not provided | ClinVar |
| p.Arg333Trp | exon 8 | ? | not provided | ClinVar |
| p.Ser336Cys | exon 8 | ? | not provided | ClinVar |
| p.Trp339Gly | exon 8 | ? | not provided | ClinVar |
| p.Tyr340Asp | exon 8 | D | Pathogenic | ClinVar |
| p.Asn343= | exon 8 | ? | Uncertain significance | ClinVar |
| p.Lys346* | exon 8 | ? | not provided | ClinVar |
| p.Lys346Thr | exon 8 | ? | not provided | ClinVar |
| p.Lys356* | exon 8 | ? | not provided | ClinVar |
| p.Tyr362* | exon 8 | ? | not provided | ClinVar |
| p.Asn380Lys | exon 9 | ? | not provided | ClinVar |
| p.Ala407Val | exon 9 | ? | not provided | ClinVar |
| p.Arg408* | exon 9 | D | Pathogenic | ClinVar |
| p.Ser416= | exon 10 | ? | not provided | ClinVar |
| p.Phe418Ser | exon 10 | ? | Uncertain significance | ClinVar |
| p.His423Arg | exon 10 | N | Benign/Likely benign, not provided | ClinVar |
| p.His423Pro | exon 10 | ? | not provided | ClinVar |
| p.His423= | exon 10 | N | Benign | ClinVar |
| p.Val424= | exon 10 | ? | not provided | ClinVar |
| p.Glu432Lys | exon 10 | N | Likely benign | ClinVar |
| p.Trp439* | exon 10 | ? | not provided | ClinVar |
| p.Phe442Ser | exon 10 | ? | not provided | ClinVar |
| p.Ser445Arg | exon 10 | ? | not provided | ClinVar |
| p.Glu471Lys | exon 11 | ? | not provided | ClinVar |
| p.Asp498Asn | exon 11 | ? | Uncertain significance | ClinVar |
| p.Arg500= | exon 11 | N | Benign | ClinVar |
| p.Asp523Glu | exon 12 | ? | not provided | ClinVar |
| p.Phe525Leu | exon 12 | ? | not provided | ClinVar |
| p.Arg537Cys | exon 12 | ? | not provided | ClinVar |
| p.Arg537His | exon 12 | ? | not provided | ClinVar |
| p.Leu541Pro | exon 12 | ? | Uncertain significance | ClinVar |
| p.Leu541= | exon 12 | ? | not provided | ClinVar |
| p.Ala549Pro | exon 12 | ? | not provided | ClinVar |
| p.Gly550Arg | exon 12 | ? | not provided | ClinVar |
| p.Val551= | exon 12 | N | Likely benign | ClinVar |
| p.Val552Ile | exon 12 | ? | Uncertain significance | ClinVar |
| p.Phe553Leu | exon 12 | ? | not provided | ClinVar |
| p.Val567Met | exon 12 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Arg572Gln | exon 12 | D | Pathogenic | ClinVar |
| p.Arg572Pro | exon 12 | ? | not provided | ClinVar |
| p.Pro597Ser | exon 13 | ? | not provided | ClinVar |
| p.Asp600Tyr | exon 13 | ? | not provided | ClinVar |
| p.Arg602Trp | exon 13 | ? | not provided | ClinVar |
| p.Arg602Gln | exon 13 | ? | not provided | ClinVar |
| p.Ile604Ser | exon 13 | ? | not provided | ClinVar |
| p.Gly607Arg | exon 13 | ? | not provided | ClinVar |
| p.Gly607Trp | exon 13 | ? | not provided | ClinVar |
| p.Phe608Leu | exon 13 | ? | not provided | ClinVar |
| p.Phe608Tyr | exon 13 | ? | not provided | ClinVar |
| p.Gly618Glu | exon 13 | ? | not provided | ClinVar |
| p.Ala626= | exon 13 | ? | not provided | ClinVar |
| p.Gln635* | exon 13 | ? | not provided | ClinVar |
| p.Gln635Lys | exon 13 | ? | not provided | ClinVar |
| p.Gln636His | exon 13 | ? | not provided | ClinVar |
| p.Tyr639* | exon 13 | ? | not provided | ClinVar |
| p.Tyr639= | exon 13 | ? | not provided | ClinVar |
| p.Cys641Ser | exon 13 | ? | not provided | ClinVar |
| p.Val643Met | exon 13 | N | Benign | ClinVar |
| p.Val643Gly | exon 13 | ? | not provided | ClinVar |
| p.Asp645Asn | exon 13 | ? | not provided | ClinVar |
| p.Arg653Cys | exon 14 | ? | not provided | ClinVar |
| p.Trp663* | exon 14 | ? | not provided | ClinVar |
| p.Arg681* | exon 14 | ? | not provided | ClinVar |
| p.Leu686Ser | exon 14 | ? | not provided | ClinVar |
| p.Trp697* | exon 14 | ? | not provided | ClinVar |
| p.Trp700* | exon 14 | ? | not provided | ClinVar |
| p.Ser709= | exon 14 | ? | not provided | ClinVar |
| p.Thr716Met | exon 14 | ? | not provided | ClinVar |
| p.Cys764Tyr | exon 15 | ? | not provided | ClinVar |
| p.Ser765Asn | exon 15 | ? | not provided | ClinVar |
| p.Ser765Arg | exon 15 | ? | not provided | ClinVar |
| p.Val767Asp | exon 15 | ? | not provided | ClinVar |
| p.Cys779* | exon 15 | ? | not provided | ClinVar |
| p.Leu797Pro | exon 16 | ? | not provided | ClinVar |
| p.Gly818Glu | exon 16 | ? | not provided | ClinVar |
| p.Trp821Arg | exon 16 | ? | not provided | ClinVar |
| p.Ile824= | exon 16 | ? | not provided | ClinVar |
| p.Asp846His | exon 16 | ? | not provided | ClinVar |
| p.Val849Ala | exon 16 | ? | not provided | ClinVar |
| p.Gly851Asp | exon 16 | ? | not provided | ClinVar |
| p.Ala854Thr | exon 16 | ? | Uncertain significance | ClinVar |
| p.Trp855* | exon 16 | ? | not provided | ClinVar |
| p.Trp855* | exon 16 | D | Pathogenic | ClinVar |
| p.Pro862Leu | exon 16 | ? | not provided | ClinVar |
| p.Gly863Ala | exon 17 | D | Pathogenic | ClinVar |
| p.Phe873Leu | exon 17 | ? | not provided | ClinVar |
| p.Thr897Ile | exon 18 | ? | not provided | ClinVar |
| p.Glu898Lys | exon 18 | ? | not provided | ClinVar |
| p.Thr901Ala | exon 18 | ? | not provided | ClinVar |
| p.Thr901= | exon 18 | ? | not provided | ClinVar |
| p.Thr901= | exon 18 | ? | not provided | ClinVar |
| p.Gly928Trp | exon 19 | ? | Uncertain significance | ClinVar |
| p.Val931Met | exon 19 | D | Pathogenic | ClinVar |
| p.Asn933Ile | exon 19 | D | Pathogenic | ClinVar |
| p.Val935Ala | exon 19 | ? | not provided | ClinVar |
| p.Glu939* | exon 19 | D | Likely pathogenic | ClinVar |
| p.Pro940= | exon 19 | ? | not provided | ClinVar |
| p.Arg943Gly | exon 19 | ? | not provided | ClinVar |
| p.Arg943Trp | exon 19 | ? | not provided | ClinVar |
| p.Arg943Gln | exon 19 | ? | Conflicting interpretations of pathogenicity, not provided, risk factor | ClinVar |
| p.Tyr954Asp | exon 19 | ? | not provided | ClinVar |
| p.Gln957Lys | exon 19 | ? | Uncertain significance | ClinVar |
| p.Gln957Arg | exon 19 | ? | not provided | ClinVar |
| p.Thr959Ile | exon 19 | ? | not provided | ClinVar |
| p.Thr959= | exon 19 | ? | not provided | ClinVar |
| p.Asn965Asp | exon 19 | ? | not provided | ClinVar |
| p.Gly968Arg | exon 19 | ? | Uncertain significance | ClinVar |
| p.Thr971Asn | exon 19 | ? | not provided | ClinVar |
| p.Thr972Asn | exon 19 | ? | not provided | ClinVar |
| p.Ser974Pro | exon 20 | ? | not provided | ClinVar |
| p.Gly978Cys | exon 20 | ? | not provided | ClinVar |
| p.Gly978Asp | exon 20 | ? | not provided | ClinVar |
| p.Thr983Ile | exon 20 | ? | not provided | ClinVar |
| p.Leu988= | exon 20 | N | Benign | ClinVar |
| p.Val989Ala | exon 20 | ? | not provided | ClinVar |
| p.Gly991* | exon 20 | ? | not provided | ClinVar |
| p.Gly991Arg | exon 20 | ? | not provided | ClinVar |
| p.Leu998= | exon 20 | ? | not provided | ClinVar |
| p.Leu1014Arg | exon 20 | ? | not provided | ClinVar |
| p.Thr1019Ala | exon 21 | ? | not provided | ClinVar |
| p.Thr1019= | exon 21 | ? | not provided | ClinVar |
| p.Glu1022Lys | exon 21 | ? | not provided | ClinVar |
| p.Ala1028Val | exon 21 | D | Pathogenic | ClinVar |
| p.Gln1029* | exon 21 | ? | not provided | ClinVar |
| p.Lys1031Glu | exon 21 | ? | not provided | ClinVar |
| p.Glu1036Lys | exon 21 | D | Pathogenic | ClinVar |
| p.Ala1038Val | exon 21 | D | Pathogenic | ClinVar |
| p.Gly1050Asp | exon 21 | ? | not provided | ClinVar |
| p.Arg1055Trp | exon 21 | ? | not provided | ClinVar |
| p.Ser1063Pro | exon 21 | ? | not provided | ClinVar |
| p.Ser1071Leu | exon 22 | ? | not provided | ClinVar |
| p.Val1072= | exon 22 | ? | not provided | ClinVar |
| p.Glu1087Lys | exon 22 | ? | not provided | ClinVar |
| p.Glu1087Asp | exon 22 | ? | not provided | ClinVar |
| p.Gly1091Glu | exon 22 | ? | not provided | ClinVar |
| p.Asp1093Gly | exon 22 | ? | not provided | ClinVar |
| p.Tyr1095= | exon 22 | N | Benign | ClinVar |
| p.Arg1097= | exon 22 | ? | not provided | ClinVar |
| p.Ser1099Pro | exon 22 | ? | not provided | ClinVar |
| p.Trp1101* | exon 22 | ? | not provided | ClinVar |
| p.Arg1108Cys | exon 22 | D | Pathogenic | ClinVar |
| p.Arg1108His | exon 22 | ? | not provided | ClinVar |
| p.Arg1108Leu | exon 22 | ? | not provided | ClinVar |
| p.Thr1112Asn | exon 23 | ? | not provided | ClinVar |
| p.Glu1122Lys | exon 23 | D | Pathogenic | ClinVar |
| p.Glu1122Asp | exon 23 | ? | not provided | ClinVar |
| p.Arg1129Leu | exon 23 | ? | not provided | ClinVar |
| p.Cys1177* | exon 24 | ? | not provided | ClinVar |
| p.Val1192= | exon 24 | ? | Uncertain significance | ClinVar |
| p.Gln1199* | exon 24 | ? | not provided | ClinVar |
| p.Leu1201Arg | exon 24 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Asp1204Asn | exon 25 | ? | not provided | ClinVar |
| p.Met1209Thr | exon 25 | N | Benign/Likely benign | ClinVar |
| p.Leu1232= | exon 25 | ? | not provided | ClinVar |
| p.Asn1235Asp | exon 25 | ? | not provided | ClinVar |
| p.Leu1250Pro | exon 25 | ? | not provided | ClinVar |
| p.Glu1252* | exon 25 | ? | not provided | ClinVar |
| p.Thr1253Met | exon 25 | ? | not provided | ClinVar |
| p.Thr1253= | exon 25 | N | Benign | ClinVar |
| p.Glu1270* | exon 25 | ? | not provided | ClinVar |
| p.Gln1292* | exon 27 | ? | not provided | ClinVar |
| p.Arg1300* | exon 27 | ? | not provided | ClinVar |
| p.Arg1300Gln | exon 27 | ? | not provided | ClinVar |
| p.Pro1314Thr | exon 27 | ? | not provided | ClinVar |
| p.Gln1332* | exon 27 | ? | not provided | ClinVar |
| p.Leu1358Pro | exon 27 | ? | not provided | ClinVar |
| p.Pro1380Leu | exon 28 | D | Pathogenic, not provided, risk factor | ClinVar |
| p.Leu1388Pro | exon 28 | ? | not provided | ClinVar |
| p.Leu1390Pro | exon 28 | ? | not provided | ClinVar |
| p.Glu1399Lys | exon 28 | D | Pathogenic | ClinVar |
| p.Tyr1400= | exon 28 | ? | not provided | ClinVar |
| p.Pro1401= | exon 28 | N | Benign | ClinVar |
| p.His1406Tyr | exon 28 | ? | not provided | ClinVar |
| p.Trp1408Arg | exon 28 | ? | not provided | ClinVar |
| p.Trp1408Leu | exon 28 | ? | not provided | ClinVar |
| p.Gln1412* | exon 28 | ? | not provided | ClinVar |
| p.Thr1428Met | exon 29 | N | Benign/Likely benign, not provided | ClinVar |
| p.Val1429Ala | exon 29 | ? | not provided | ClinVar |
| p.Val1433Ile | exon 29 | ? | Uncertain significance | ClinVar |
| p.Gly1439Asp | exon 29 | ? | not provided | ClinVar |
| p.Phe1440Val | exon 29 | ? | not provided | ClinVar |
| p.Phe1440Ser | exon 29 | ? | not provided | ClinVar |
| p.Arg1443His | exon 29 | ? | not provided | ClinVar |
| p.Trp1449* | exon 29 | ? | not provided | ClinVar |
| p.Ser1467= | exon 30 | ? | Uncertain significance | ClinVar |
| p.Asn1469= | exon 30 | ? | Uncertain significance | ClinVar |
| p.Gln1477* | exon 30 | D | Pathogenic | ClinVar |
| p.Trp1479* | exon 30 | ? | not provided | ClinVar |
| p.Pro1486Leu | exon 30 | ? | not provided | ClinVar |
| p.Cys1488Arg | exon 30 | ? | not provided | ClinVar |
| p.Cys1488Phe | exon 30 | ? | not provided | ClinVar |
| p.Cys1488Tyr | exon 30 | ? | not provided | ClinVar |
| p.Cys1490Ser | exon 30 | ? | not provided | ClinVar |
| p.Cys1490Tyr | exon 30 | D | Pathogenic | ClinVar |
| p.Cys1502* | exon 30 | ? | not provided | ClinVar |
| p.Cys1502= | exon 30 | ? | not provided | ClinVar |
| p.Pro1512Arg | exon 30 | ? | not provided | ClinVar |
| p.Gln1513Arg | exon 30 | ? | Uncertain significance | ClinVar |
| p.Arg1517Ser | exon 31 | ? | not provided | ClinVar |
| p.Leu1525Pro | exon 31 | ? | not provided | ClinVar |
| p.Thr1526Met | exon 31 | D | Pathogenic | ClinVar |
| p.Asp1532Asn | exon 31 | D | Pathogenic | ClinVar |
| p.Thr1537Met | exon 31 | ? | not provided | ClinVar |
| p.Ile1562Thr | exon 33 | ? | not provided | ClinVar |
| p.Thr1572Ser | exon 33 | ? | not provided | ClinVar |
| p.Gly1578Arg | exon 33 | ? | not provided | ClinVar |
| p.Asp1582= | exon 33 | ? | not provided | ClinVar |
| p.Leu1583Pro | exon 33 | ? | not provided | ClinVar |
| p.Arg1585Gln | exon 33 | ? | Uncertain significance | ClinVar |
| p.Gly1591Arg | exon 33 | ? | Uncertain significance | ClinVar |
| p.Ala1598Asp | exon 34 | ? | not provided | ClinVar |
| p.Trp1618Arg | exon 35 | D | Likely pathogenic | ClinVar |
| p.Trp1618* | exon 35 | ? | not provided | ClinVar |
| p.Gly1623Ser | exon 35 | ? | not provided | ClinVar |
| p.His1625Gln | exon 35 | ? | not provided | ClinVar |
| p.Leu1631Pro | exon 35 | ? | not provided | ClinVar |
| p.Ala1637Thr | exon 35 | ? | not provided | ClinVar |
| p.Arg1640Trp | exon 35 | ? | not provided | ClinVar |
| p.Arg1640Gln | exon 35 | ? | not provided | ClinVar |
| p.Ser1642Arg | exon 35 | ? | not provided | ClinVar |
| p.Tyr1652Asp | exon 35 | ? | not provided | ClinVar |
| p.Tyr1652* | exon 35 | ? | not provided | ClinVar |
| p.Gln1667Lys | exon 35 | ? | not provided | ClinVar |
| p.Val1686Met | exon 36 | ? | Uncertain significance | ClinVar |
| p.Ser1689Pro | exon 36 | ? | not provided | ClinVar |
| p.Val1693Ile | exon 36 | ? | not provided | ClinVar |
| p.Ser1696Asn | exon 36 | ? | not provided | ClinVar |
| p.Gln1703Glu | exon 36 | ? | not provided | ClinVar |
| p.Arg1705Leu | exon 36 | ? | not provided | ClinVar |
| p.Leu1729Pro | exon 36 | ? | not provided | ClinVar |
| p.Ser1736Pro | exon 37 | ? | not provided | ClinVar |
| p.Gly1740Glu | exon 37 | ? | Uncertain significance | ClinVar |
| p.Gly1748Arg | exon 37 | ? | not provided | ClinVar |
| p.Gln1750* | exon 37 | ? | not provided | ClinVar |
| p.Ala1762Asp | exon 37 | D | Pathogenic | ClinVar |
| p.Leu1763Pro | exon 37 | ? | not provided | ClinVar |
| p.Trp1772* | exon 38 | ? | not provided | ClinVar |
| p.Tyr1779* | exon 38 | ? | not provided | ClinVar |
| p.Tyr1779* | exon 38 | ? | not provided | ClinVar |
| p.Pro1780Ala | exon 38 | D | Pathogenic | ClinVar |
| p.Ala1794Asp | exon 38 | ? | not provided | ClinVar |
| p.Asn1799Asp | exon 38 | ? | not provided | ClinVar |
| p.Asn1805Asp | exon 38 | ? | not provided | ClinVar |
| p.Arg1820Pro | exon 38 | ? | not provided | ClinVar |
| p.His1838Asp | exon 39 | ? | not provided | ClinVar |
| p.His1838Tyr | exon 39 | ? | not provided | ClinVar |
| p.Arg1843Trp | exon 39 | ? | not provided | ClinVar |
| p.Ile1846Thr | exon 39 | ? | not provided | ClinVar |
| p.Leu1850Pro | exon 39 | ? | Uncertain significance | ClinVar |
| p.Asn1868Ile | exon 40 | N | Benign | ClinVar |
| p.Met1882Val | exon 40 | ? | not provided | ClinVar |
| p.Val1884Glu | exon 40 | ? | not provided | ClinVar |
| p.Glu1885Lys | exon 40 | ? | not provided | ClinVar |
| p.Gly1886Glu | exon 40 | ? | not provided | ClinVar |
| p.Leu1894= | exon 40 | N | Benign | ClinVar |
| p.Val1896Asp | exon 40 | ? | not provided | ClinVar |
| p.Arg1898His | exon 40 | ? | not provided | ClinVar |
| p.Val1921Met | exon 41 | ? | not provided | ClinVar |
| p.Leu1938= | exon 41 | N | Benign | ClinVar |
| p.Leu1940Pro | exon 41 | D | Pathogenic | ClinVar |
| p.Pro1948Leu | exon 42 | N | Benign | ClinVar |
| p.Pro1948= | exon 42 | N | Benign | ClinVar |
| p.Asp1956= | exon 42 | ? | not provided | ClinVar |
| p.Gly1961Glu | exon 42 | D | Pathogenic, not provided, risk factor | ClinVar |
| p.Val1962= | exon 42 | ? | not provided | ClinVar |
| p.Leu1970Phe | exon 43 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Leu1971Arg | exon 43 | D | Pathogenic | ClinVar |
| p.Gly1972Arg | exon 43 | ? | not provided | ClinVar |
| p.Gly1975Arg | exon 43 | ? | not provided | ClinVar |
| p.Gly1977Ser | exon 43 | ? | not provided | ClinVar |
| p.Thr1979Ile | exon 43 | ? | not provided | ClinVar |
| p.Ile2023= | exon 44 | N | Benign | ClinVar |
| p.Leu2026= | exon 44 | ? | not provided | ClinVar |
| p.Leu2027Phe | exon 44 | D | Pathogenic | ClinVar |
| p.Arg2030* | exon 44 | D | Pathogenic | ClinVar |
| p.Arg2030Gln | exon 44 | D | Pathogenic | ClinVar |
| p.Leu2035Pro | exon 44 | ? | not provided | ClinVar |
| p.Arg2038Trp | exon 44 | ? | not provided | ClinVar |
| p.Arg2040* | exon 44 | ? | not provided | ClinVar |
| p.Arg2040Gln | exon 44 | N | Likely benign | ClinVar |
| p.Val2050Leu | exon 45 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Lys2056* | exon 45 | ? | not provided | ClinVar |
| p.Leu2060Arg | exon 45 | ? | not provided | ClinVar |
| p.Ala2064Pro | exon 45 | ? | not provided | ClinVar |
| p.Tyr2071= | exon 45 | ? | not provided | ClinVar |
| p.Arg2077Gly | exon 45 | ? | not provided | ClinVar |
| p.Arg2077Trp | exon 45 | ? | not provided | ClinVar |
| p.Ile2083= | exon 45 | N | Benign | ClinVar |
| p.Leu2085= | exon 45 | ? | not provided | ClinVar |
| p.Val2092= | exon 45 | ? | not provided | ClinVar |
| p.Asp2095= | exon 46 | N | Benign | ClinVar |
| p.Glu2096Lys | exon 46 | ? | not provided | ClinVar |
| p.Arg2106Cys | exon 46 | ? | not provided | ClinVar |
| p.Arg2107His | exon 46 | ? | Uncertain significance | ClinVar |
| p.Arg2107Pro | exon 46 | ? | not provided | ClinVar |
| p.Trp2110* | exon 46 | ? | not provided | ClinVar |
| p.Ile2113Met | exon 46 | ? | not provided | ClinVar |
| p.Val2114= | exon 46 | ? | not provided | ClinVar |
| p.His2128Arg | exon 46 | ? | not provided | ClinVar |
| p.Glu2131Lys | exon 47 | ? | not provided | ClinVar |
| p.Arg2139Trp | exon 47 | ? | not provided | ClinVar |
| p.Gly2146Asp | exon 47 | ? | not provided | ClinVar |
| p.Arg2149* | exon 47 | D | Pathogenic | ClinVar |
| p.Arg2149Leu | exon 47 | ? | not provided | ClinVar |
| p.Cys2150Arg | exon 47 | ? | not provided | ClinVar |
| p.Cys2150Tyr | exon 47 | ? | not provided | ClinVar |
| p.Lys2160Arg | exon 47 | ? | not provided | ClinVar |
| p.Ile2166Met | exon 48 | ? | not provided | ClinVar |
| p.Asp2177Asn | exon 48 | ? | risk factor | ClinVar |
| p.Phe2188Ser | exon 48 | ? | not provided | ClinVar |
| p.Tyr2203* | exon 48 | ? | not provided | ClinVar |
| p.Gln2220* | exon 48 | ? | not provided | ClinVar |
| p.Leu2229Pro | exon 48 | ? | not provided | ClinVar |
| p.Ile2231= | exon 48 | ? | not provided | ClinVar |
| p.Leu2241Val | exon 48 | ? | not provided | ClinVar |
| p.Val2244= | exon 49 | N | Benign | ClinVar |
| p.Ser2255Ile | exon 49 | N | Benign/Likely benign, not provided | ClinVar |
| p.Arg2263Leu | exon 49 | ? | not provided | ClinVar |
| p.Ala2271= | exon 49 | ? | not provided | ClinVar |