Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121605126_121605127delCA2616502573SORL1c.4665_4666del (p.Tyr1556GlnfsTer10)
c.1497_1498del (p.Tyr500GlnfsTer10)
c.510_511del (p.Tyr171GlnfsTer10)
c.1203_1204del (p.Tyr402GlnfsTer10)
c.1395_1396del (p.Tyr466GlnfsTer10)
c.4551_4552del (p.Tyr1518GlnfsTer10)
c.3126_3127del (p.Tyr1043GlnfsTer10)
c.2025_2026del (p.Tyr676GlnfsTer10)
c.4353_4354del (p.Tyr1452GlnfsTer10)
c.4140_4141del (p.Tyr1381GlnfsTer10)
 gnomAD v4
11g.121605126G>ACA477221655SORL1c.4665G>A (p.Val1555=)
c.1497G>A (p.Val499=)
c.510G>A (p.Val170=)
c.1203G>A (p.Val401=)
c.1395G>A (p.Val465=)
c.4551G>A (p.Val1517=)
c.3126G>A (p.Val1042=)
c.2025G>A (p.Val675=)
c.4353G>A (p.Val1451=)
c.4140G>A (p.Val1380=)
 dbSNP gnomAD v2
11g.121605126G>CCA477221657SORL1c.4665G>C (p.Val1555=)
c.1497G>C (p.Val499=)
c.510G>C (p.Val170=)
c.1203G>C (p.Val401=)
c.1395G>C (p.Val465=)
c.4551G>C (p.Val1517=)
c.3126G>C (p.Val1042=)
c.2025G>C (p.Val675=)
c.4353G>C (p.Val1451=)
c.4140G>C (p.Val1380=)
11g.121605126G=CA2004922114SORL1c.4665G= (p.Val1555=)
c.1497G= (p.Val499=)
c.510G= (p.Val170=)
c.1203G= (p.Val401=)
c.1395G= (p.Val465=)
c.4551G= (p.Val1517=)
c.3126G= (p.Val1042=)
c.2025G= (p.Val675=)
c.4353G= (p.Val1451=)
c.4140G= (p.Val1380=)
11g.121605126G>TCA477221656SORL1c.4665G>T (p.Val1555=)
c.1497G>T (p.Val499=)
c.510G>T (p.Val170=)
c.1203G>T (p.Val401=)
c.1395G>T (p.Val465=)
c.4551G>T (p.Val1517=)
c.3126G>T (p.Val1042=)
c.2025G>T (p.Val675=)
c.4353G>T (p.Val1451=)
c.4140G>T (p.Val1380=)
11g.121605127T>ACA383038401SORL1c.4666T>A (p.Tyr1556Asn)
c.1498T>A (p.Tyr500Asn)
c.511T>A (p.Tyr171Asn)
c.1204T>A (p.Tyr402Asn)
c.1396T>A (p.Tyr466Asn)
c.4552T>A (p.Tyr1518Asn)
c.3127T>A (p.Tyr1043Asn)
c.2026T>A (p.Tyr676Asn)
c.4354T>A (p.Tyr1452Asn)
c.4141T>A (p.Tyr1381Asn)
11g.121605127T>CCA229873623SORL1c.4666T>C (p.Tyr1556His)
c.1498T>C (p.Tyr500His)
c.511T>C (p.Tyr171His)
c.1204T>C (p.Tyr402His)
c.1396T>C (p.Tyr466His)
c.4552T>C (p.Tyr1518His)
c.3127T>C (p.Tyr1043His)
c.2026T>C (p.Tyr676His)
c.4354T>C (p.Tyr1452His)
c.4141T>C (p.Tyr1381His)
 dbSNP
11g.121605127T>GCA383038402SORL1c.4666T>G (p.Tyr1556Asp)
c.1498T>G (p.Tyr500Asp)
c.511T>G (p.Tyr171Asp)
c.1204T>G (p.Tyr402Asp)
c.1396T>G (p.Tyr466Asp)
c.4552T>G (p.Tyr1518Asp)
c.3127T>G (p.Tyr1043Asp)
c.2026T>G (p.Tyr676Asp)
c.4354T>G (p.Tyr1452Asp)
c.4141T>G (p.Tyr1381Asp)
11g.121605127T=CA2004922118SORL1c.4666T= (p.Tyr1556=)
c.1498T= (p.Tyr500=)
c.511T= (p.Tyr171=)
c.1204T= (p.Tyr402=)
c.1396T= (p.Tyr466=)
c.4552T= (p.Tyr1518=)
c.3127T= (p.Tyr1043=)
c.2026T= (p.Tyr676=)
c.4354T= (p.Tyr1452=)
c.4141T= (p.Tyr1381=)
11g.121605128A=CA2004922120SORL1c.4667A= (p.Tyr1556=)
c.1499A= (p.Tyr500=)
c.512A= (p.Tyr171=)
c.1205A= (p.Tyr402=)
c.1397A= (p.Tyr466=)
c.4553A= (p.Tyr1518=)
c.3128A= (p.Tyr1043=)
c.2027A= (p.Tyr676=)
c.4355A= (p.Tyr1452=)
c.4142A= (p.Tyr1381=)
11g.121605128A>CCA383038403SORL1c.4667A>C (p.Tyr1556Ser)
c.1499A>C (p.Tyr500Ser)
c.512A>C (p.Tyr171Ser)
c.1205A>C (p.Tyr402Ser)
c.1397A>C (p.Tyr466Ser)
c.4553A>C (p.Tyr1518Ser)
c.3128A>C (p.Tyr1043Ser)
c.2027A>C (p.Tyr676Ser)
c.4355A>C (p.Tyr1452Ser)
c.4142A>C (p.Tyr1381Ser)
11g.121605128A>GCA383038404SORL1c.4667A>G (p.Tyr1556Cys)
c.1499A>G (p.Tyr500Cys)
c.512A>G (p.Tyr171Cys)
c.1205A>G (p.Tyr402Cys)
c.1397A>G (p.Tyr466Cys)
c.4553A>G (p.Tyr1518Cys)
c.3128A>G (p.Tyr1043Cys)
c.2027A>G (p.Tyr676Cys)
c.4355A>G (p.Tyr1452Cys)
c.4142A>G (p.Tyr1381Cys)
 dbSNP gnomAD v4
11g.121605128A>TCA383038405SORL1c.4667A>T (p.Tyr1556Phe)
c.1499A>T (p.Tyr500Phe)
c.512A>T (p.Tyr171Phe)
c.1205A>T (p.Tyr402Phe)
c.1397A>T (p.Tyr466Phe)
c.4553A>T (p.Tyr1518Phe)
c.3128A>T (p.Tyr1043Phe)
c.2027A>T (p.Tyr676Phe)
c.4355A>T (p.Tyr1452Phe)
c.4142A>T (p.Tyr1381Phe)
11g.121605129C>ACA383038406SORL1c.4668C>A (p.Tyr1556Ter)
c.1500C>A (p.Tyr500Ter)
c.513C>A (p.Tyr171Ter)
c.1206C>A (p.Tyr402Ter)
c.1398C>A (p.Tyr466Ter)
c.4554C>A (p.Tyr1518Ter)
c.3129C>A (p.Tyr1043Ter)
c.2028C>A (p.Tyr676Ter)
c.4356C>A (p.Tyr1452Ter)
c.4143C>A (p.Tyr1381Ter)
11g.121605129C>GCA383038407SORL1c.4668C>G (p.Tyr1556Ter)
c.1500C>G (p.Tyr500Ter)
c.513C>G (p.Tyr171Ter)
c.1206C>G (p.Tyr402Ter)
c.1398C>G (p.Tyr466Ter)
c.4554C>G (p.Tyr1518Ter)
c.3129C>G (p.Tyr1043Ter)
c.2028C>G (p.Tyr676Ter)
c.4356C>G (p.Tyr1452Ter)
c.4143C>G (p.Tyr1381Ter)
11g.121605129C>TCA477221661SORL1c.4668C>T (p.Tyr1556=)
c.1500C>T (p.Tyr500=)
c.513C>T (p.Tyr171=)
c.1206C>T (p.Tyr402=)
c.1398C>T (p.Tyr466=)
c.4554C>T (p.Tyr1518=)
c.3129C>T (p.Tyr1043=)
c.2028C>T (p.Tyr676=)
c.4356C>T (p.Tyr1452=)
c.4143C>T (p.Tyr1381=)
 gnomAD v4
11g.121605130A=CA2004922123SORL1c.4669A= (p.Lys1557=)
c.1501A= (p.Lys501=)
c.514A= (p.Lys172=)
c.1207A= (p.Lys403=)
c.1399A= (p.Lys467=)
c.4555A= (p.Lys1519=)
c.3130A= (p.Lys1044=)
c.2029A= (p.Lys677=)
c.4357A= (p.Lys1453=)
c.4144A= (p.Lys1382=)
11g.121605130A>CCA383038408SORL1c.4669A>C (p.Lys1557Gln)
c.1501A>C (p.Lys501Gln)
c.514A>C (p.Lys172Gln)
c.1207A>C (p.Lys403Gln)
c.1399A>C (p.Lys467Gln)
c.4555A>C (p.Lys1519Gln)
c.3130A>C (p.Lys1044Gln)
c.2029A>C (p.Lys677Gln)
c.4357A>C (p.Lys1453Gln)
c.4144A>C (p.Lys1382Gln)
11g.121605130A>GCA383038409SORL1c.4669A>G (p.Lys1557Glu)
c.1501A>G (p.Lys501Glu)
c.514A>G (p.Lys172Glu)
c.1207A>G (p.Lys403Glu)
c.1399A>G (p.Lys467Glu)
c.4555A>G (p.Lys1519Glu)
c.3130A>G (p.Lys1044Glu)
c.2029A>G (p.Lys677Glu)
c.4357A>G (p.Lys1453Glu)
c.4144A>G (p.Lys1382Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121605130A>TCA383038410SORL1c.4669A>T (p.Lys1557Ter)
c.1501A>T (p.Lys501Ter)
c.514A>T (p.Lys172Ter)
c.1207A>T (p.Lys403Ter)
c.1399A>T (p.Lys467Ter)
c.4555A>T (p.Lys1519Ter)
c.3130A>T (p.Lys1044Ter)
c.2029A>T (p.Lys677Ter)
c.4357A>T (p.Lys1453Ter)
c.4144A>T (p.Lys1382Ter)
11g.121605131A=CA2004922126SORL1c.4670A= (p.Lys1557=)
c.1502A= (p.Lys501=)
c.515A= (p.Lys172=)
c.1208A= (p.Lys403=)
c.1400A= (p.Lys467=)
c.4556A= (p.Lys1519=)
c.3131A= (p.Lys1044=)
c.2030A= (p.Lys677=)
c.4358A= (p.Lys1453=)
c.4145A= (p.Lys1382=)
11g.121605131A>CCA383038412SORL1c.4670A>C (p.Lys1557Thr)
c.1502A>C (p.Lys501Thr)
c.515A>C (p.Lys172Thr)
c.1208A>C (p.Lys403Thr)
c.1400A>C (p.Lys467Thr)
c.4556A>C (p.Lys1519Thr)
c.3131A>C (p.Lys1044Thr)
c.2030A>C (p.Lys677Thr)
c.4358A>C (p.Lys1453Thr)
c.4145A>C (p.Lys1382Thr)
11g.121605131A>GCA229873629SORL1c.4670A>G (p.Lys1557Arg)
c.1502A>G (p.Lys501Arg)
c.515A>G (p.Lys172Arg)
c.1208A>G (p.Lys403Arg)
c.1400A>G (p.Lys467Arg)
c.4556A>G (p.Lys1519Arg)
c.3131A>G (p.Lys1044Arg)
c.2030A>G (p.Lys677Arg)
c.4358A>G (p.Lys1453Arg)
c.4145A>G (p.Lys1382Arg)
 dbSNP
11g.121605131A>TCA383038411SORL1c.4670A>T (p.Lys1557Ile)
c.1502A>T (p.Lys501Ile)
c.515A>T (p.Lys172Ile)
c.1208A>T (p.Lys403Ile)
c.1400A>T (p.Lys467Ile)
c.4556A>T (p.Lys1519Ile)
c.3131A>T (p.Lys1044Ile)
c.2030A>T (p.Lys677Ile)
c.4358A>T (p.Lys1453Ile)
c.4145A>T (p.Lys1382Ile)
11g.121605132A>CCA383038413SORL1c.4671A>C (p.Lys1557Asn)
c.1503A>C (p.Lys501Asn)
c.516A>C (p.Lys172Asn)
c.1209A>C (p.Lys403Asn)
c.1401A>C (p.Lys467Asn)
c.4557A>C (p.Lys1519Asn)
c.3132A>C (p.Lys1044Asn)
c.2031A>C (p.Lys677Asn)
c.4359A>C (p.Lys1453Asn)
c.4146A>C (p.Lys1382Asn)
11g.121605132A>GCA477221663SORL1c.4671A>G (p.Lys1557=)
c.1503A>G (p.Lys501=)
c.516A>G (p.Lys172=)
c.1209A>G (p.Lys403=)
c.1401A>G (p.Lys467=)
c.4557A>G (p.Lys1519=)
c.3132A>G (p.Lys1044=)
c.2031A>G (p.Lys677=)
c.4359A>G (p.Lys1453=)
c.4146A>G (p.Lys1382=)
11g.121605132A>TCA383038414SORL1c.4671A>T (p.Lys1557Asn)
c.1503A>T (p.Lys501Asn)
c.516A>T (p.Lys172Asn)
c.1209A>T (p.Lys403Asn)
c.1401A>T (p.Lys467Asn)
c.4557A>T (p.Lys1519Asn)
c.3132A>T (p.Lys1044Asn)
c.2031A>T (p.Lys677Asn)
c.4359A>T (p.Lys1453Asn)
c.4146A>T (p.Lys1382Asn)
11g.121605133G>ACA383038415SORL1c.4672G>A (p.Val1558Ile)
c.1504G>A (p.Val502Ile)
c.517G>A (p.Val173Ile)
c.1210G>A (p.Val404Ile)
c.1402G>A (p.Val468Ile)
c.4558G>A (p.Val1520Ile)
c.3133G>A (p.Val1045Ile)
c.2032G>A (p.Val678Ile)
c.4360G>A (p.Val1454Ile)
c.4147G>A (p.Val1383Ile)
 gnomAD v4
11g.121605133G>CCA383038416SORL1c.4672G>C (p.Val1558Leu)
c.1504G>C (p.Val502Leu)
c.517G>C (p.Val173Leu)
c.1210G>C (p.Val404Leu)
c.1402G>C (p.Val468Leu)
c.4558G>C (p.Val1520Leu)
c.3133G>C (p.Val1045Leu)
c.2032G>C (p.Val678Leu)
c.4360G>C (p.Val1454Leu)
c.4147G>C (p.Val1383Leu)
11g.121605133G>TCA383038417SORL1c.4672G>T (p.Val1558Leu)
c.1504G>T (p.Val502Leu)
c.517G>T (p.Val173Leu)
c.1210G>T (p.Val404Leu)
c.1402G>T (p.Val468Leu)
c.4558G>T (p.Val1520Leu)
c.3133G>T (p.Val1045Leu)
c.2032G>T (p.Val678Leu)
c.4360G>T (p.Val1454Leu)
c.4147G>T (p.Val1383Leu)
 gnomAD v4
11g.121605134T>ACA383038418SORL1c.4673T>A (p.Val1558Glu)
c.1505T>A (p.Val502Glu)
c.518T>A (p.Val173Glu)
c.1211T>A (p.Val404Glu)
c.1403T>A (p.Val468Glu)
c.4559T>A (p.Val1520Glu)
c.3134T>A (p.Val1045Glu)
c.2033T>A (p.Val678Glu)
c.4361T>A (p.Val1454Glu)
c.4148T>A (p.Val1383Glu)
11g.121605134T>CCA383038419SORL1c.4673T>C (p.Val1558Ala)
c.1505T>C (p.Val502Ala)
c.518T>C (p.Val173Ala)
c.1211T>C (p.Val404Ala)
c.1403T>C (p.Val468Ala)
c.4559T>C (p.Val1520Ala)
c.3134T>C (p.Val1045Ala)
c.2033T>C (p.Val678Ala)
c.4361T>C (p.Val1454Ala)
c.4148T>C (p.Val1383Ala)
 gnomAD v4
11g.121605134T>GCA383038420SORL1c.4673T>G (p.Val1558Gly)
c.1505T>G (p.Val502Gly)
c.518T>G (p.Val173Gly)
c.1211T>G (p.Val404Gly)
c.1403T>G (p.Val468Gly)
c.4559T>G (p.Val1520Gly)
c.3134T>G (p.Val1045Gly)
c.2033T>G (p.Val678Gly)
c.4361T>G (p.Val1454Gly)
c.4148T>G (p.Val1383Gly)
11g.121605135A>CCA477221666SORL1c.4674A>C (p.Val1558=)
c.1506A>C (p.Val502=)
c.519A>C (p.Val173=)
c.1212A>C (p.Val404=)
c.1404A>C (p.Val468=)
c.4560A>C (p.Val1520=)
c.3135A>C (p.Val1045=)
c.2034A>C (p.Val678=)
c.4362A>C (p.Val1454=)
c.4149A>C (p.Val1383=)
 gnomAD v4
11g.121605135A>GCA477221667SORL1c.4674A>G (p.Val1558=)
c.1506A>G (p.Val502=)
c.519A>G (p.Val173=)
c.1212A>G (p.Val404=)
c.1404A>G (p.Val468=)
c.4560A>G (p.Val1520=)
c.3135A>G (p.Val1045=)
c.2034A>G (p.Val678=)
c.4362A>G (p.Val1454=)
c.4149A>G (p.Val1383=)
11g.121605135A>TCA477221668SORL1c.4674A>T (p.Val1558=)
c.1506A>T (p.Val502=)
c.519A>T (p.Val173=)
c.1212A>T (p.Val404=)
c.1404A>T (p.Val468=)
c.4560A>T (p.Val1520=)
c.3135A>T (p.Val1045=)
c.2034A>T (p.Val678=)
c.4362A>T (p.Val1454=)
c.4149A>T (p.Val1383=)
11g.121605136C>ACA383038421SORL1c.4675C>A (p.Gln1559Lys)
c.1507C>A (p.Gln503Lys)
c.520C>A (p.Gln174Lys)
c.1213C>A (p.Gln405Lys)
c.1405C>A (p.Gln469Lys)
c.4561C>A (p.Gln1521Lys)
c.3136C>A (p.Gln1046Lys)
c.2035C>A (p.Gln679Lys)
c.4363C>A (p.Gln1455Lys)
c.4150C>A (p.Gln1384Lys)
11g.121605136C>GCA383038422SORL1c.4675C>G (p.Gln1559Glu)
c.1507C>G (p.Gln503Glu)
c.520C>G (p.Gln174Glu)
c.1213C>G (p.Gln405Glu)
c.1405C>G (p.Gln469Glu)
c.4561C>G (p.Gln1521Glu)
c.3136C>G (p.Gln1046Glu)
c.2035C>G (p.Gln679Glu)
c.4363C>G (p.Gln1455Glu)
c.4150C>G (p.Gln1384Glu)
11g.121605136C>TCA383038423SORL1c.4675C>T (p.Gln1559Ter)
c.1507C>T (p.Gln503Ter)
c.520C>T (p.Gln174Ter)
c.1213C>T (p.Gln405Ter)
c.1405C>T (p.Gln469Ter)
c.4561C>T (p.Gln1521Ter)
c.3136C>T (p.Gln1046Ter)
c.2035C>T (p.Gln679Ter)
c.4363C>T (p.Gln1455Ter)
c.4150C>T (p.Gln1384Ter)
11g.121605137A>CCA383038426SORL1c.4676A>C (p.Gln1559Pro)
c.1508A>C (p.Gln503Pro)
c.521A>C (p.Gln174Pro)
c.1214A>C (p.Gln405Pro)
c.1406A>C (p.Gln469Pro)
c.4562A>C (p.Gln1521Pro)
c.3137A>C (p.Gln1046Pro)
c.2036A>C (p.Gln679Pro)
c.4364A>C (p.Gln1455Pro)
c.4151A>C (p.Gln1384Pro)
11g.121605137A>GCA383038425SORL1c.4676A>G (p.Gln1559Arg)
c.1508A>G (p.Gln503Arg)
c.521A>G (p.Gln174Arg)
c.1214A>G (p.Gln405Arg)
c.1406A>G (p.Gln469Arg)
c.4562A>G (p.Gln1521Arg)
c.3137A>G (p.Gln1046Arg)
c.2036A>G (p.Gln679Arg)
c.4364A>G (p.Gln1455Arg)
c.4151A>G (p.Gln1384Arg)
11g.121605137A>TCA383038424SORL1c.4676A>T (p.Gln1559Leu)
c.1508A>T (p.Gln503Leu)
c.521A>T (p.Gln174Leu)
c.1214A>T (p.Gln405Leu)
c.1406A>T (p.Gln469Leu)
c.4562A>T (p.Gln1521Leu)
c.3137A>T (p.Gln1046Leu)
c.2036A>T (p.Gln679Leu)
c.4364A>T (p.Gln1455Leu)
c.4151A>T (p.Gln1384Leu)
11g.121605138G>ACA477221670SORL1c.4677G>A (p.Gln1559=)
c.1509G>A (p.Gln503=)
c.522G>A (p.Gln174=)
c.1215G>A (p.Gln405=)
c.1407G>A (p.Gln469=)
c.4563G>A (p.Gln1521=)
c.3138G>A (p.Gln1046=)
c.2037G>A (p.Gln679=)
c.4365G>A (p.Gln1455=)
c.4152G>A (p.Gln1384=)
11g.121605138G>CCA383038427SORL1c.4677G>C (p.Gln1559His)
c.1509G>C (p.Gln503His)
c.522G>C (p.Gln174His)
c.1215G>C (p.Gln405His)
c.1407G>C (p.Gln469His)
c.4563G>C (p.Gln1521His)
c.3138G>C (p.Gln1046His)
c.2037G>C (p.Gln679His)
c.4365G>C (p.Gln1455His)
c.4152G>C (p.Gln1384His)
11g.121605138G>TCA383038428SORL1c.4677G>T (p.Gln1559His)
c.1509G>T (p.Gln503His)
c.522G>T (p.Gln174His)
c.1215G>T (p.Gln405His)
c.1407G>T (p.Gln469His)
c.4563G>T (p.Gln1521His)
c.3138G>T (p.Gln1046His)
c.2037G>T (p.Gln679His)
c.4365G>T (p.Gln1455His)
c.4152G>T (p.Gln1384His)
11g.121605139A>CCA383038429SORL1c.4678A>C (p.Asn1560His)
c.1510A>C (p.Asn504His)
c.523A>C (p.Asn175His)
c.1216A>C (p.Asn406His)
c.1408A>C (p.Asn470His)
c.4564A>C (p.Asn1522His)
c.3139A>C (p.Asn1047His)
c.2038A>C (p.Asn680His)
c.4366A>C (p.Asn1456His)
c.4153A>C (p.Asn1385His)
11g.121605139A>GCA383038430SORL1c.4678A>G (p.Asn1560Asp)
c.1510A>G (p.Asn504Asp)
c.523A>G (p.Asn175Asp)
c.1216A>G (p.Asn406Asp)
c.1408A>G (p.Asn470Asp)
c.4564A>G (p.Asn1522Asp)
c.3139A>G (p.Asn1047Asp)
c.2038A>G (p.Asn680Asp)
c.4366A>G (p.Asn1456Asp)
c.4153A>G (p.Asn1385Asp)
11g.121605139A>TCA383038431SORL1c.4678A>T (p.Asn1560Tyr)
c.1510A>T (p.Asn504Tyr)
c.523A>T (p.Asn175Tyr)
c.1216A>T (p.Asn406Tyr)
c.1408A>T (p.Asn470Tyr)
c.4564A>T (p.Asn1522Tyr)
c.3139A>T (p.Asn1047Tyr)
c.2038A>T (p.Asn680Tyr)
c.4366A>T (p.Asn1456Tyr)
c.4153A>T (p.Asn1385Tyr)
11g.121605140A=CA2004922129SORL1c.4679A= (p.Asn1560=)
c.1511A= (p.Asn504=)
c.524A= (p.Asn175=)
c.1217A= (p.Asn406=)
c.1409A= (p.Asn470=)
c.4565A= (p.Asn1522=)
c.3140A= (p.Asn1047=)
c.2039A= (p.Asn680=)
c.4367A= (p.Asn1456=)
c.4154A= (p.Asn1385=)
11g.121605140A>CCA6329726SORL1c.4679A>C (p.Asn1560Thr)
c.1511A>C (p.Asn504Thr)
c.524A>C (p.Asn175Thr)
c.1217A>C (p.Asn406Thr)
c.1409A>C (p.Asn470Thr)
c.4565A>C (p.Asn1522Thr)
c.3140A>C (p.Asn1047Thr)
c.2039A>C (p.Asn680Thr)
c.4367A>C (p.Asn1456Thr)
c.4154A>C (p.Asn1385Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched