Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121605120G>ACA477221649SORL1c.4659G>A (p.Leu1553=)
c.1491G>A (p.Leu497=)
c.504G>A (p.Leu168=)
c.1197G>A (p.Leu399=)
c.1389G>A (p.Leu463=)
c.4545G>A (p.Leu1515=)
c.3120G>A (p.Leu1040=)
c.2019G>A (p.Leu673=)
c.4347G>A (p.Leu1449=)
c.4134G>A (p.Leu1378=)
11g.121605120G>CCA383038388SORL1c.4659G>C (p.Leu1553Phe)
c.1491G>C (p.Leu497Phe)
c.504G>C (p.Leu168Phe)
c.1197G>C (p.Leu399Phe)
c.1389G>C (p.Leu463Phe)
c.4545G>C (p.Leu1515Phe)
c.3120G>C (p.Leu1040Phe)
c.2019G>C (p.Leu673Phe)
c.4347G>C (p.Leu1449Phe)
c.4134G>C (p.Leu1378Phe)
11g.121605120G=CA2004922104SORL1c.4659G= (p.Leu1553=)
c.1491G= (p.Leu497=)
c.504G= (p.Leu168=)
c.1197G= (p.Leu399=)
c.1389G= (p.Leu463=)
c.4545G= (p.Leu1515=)
c.3120G= (p.Leu1040=)
c.2019G= (p.Leu673=)
c.4347G= (p.Leu1449=)
c.4134G= (p.Leu1378=)
11g.121605120G>TCA383038389SORL1c.4659G>T (p.Leu1553Phe)
c.1491G>T (p.Leu497Phe)
c.504G>T (p.Leu168Phe)
c.1197G>T (p.Leu399Phe)
c.1389G>T (p.Leu463Phe)
c.4545G>T (p.Leu1515Phe)
c.3120G>T (p.Leu1040Phe)
c.2019G>T (p.Leu673Phe)
c.4347G>T (p.Leu1449Phe)
c.4134G>T (p.Leu1378Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.121605121A>CCA383038390SORL1c.4660A>C (p.Thr1554Pro)
c.1492A>C (p.Thr498Pro)
c.505A>C (p.Thr169Pro)
c.1198A>C (p.Thr400Pro)
c.1390A>C (p.Thr464Pro)
c.4546A>C (p.Thr1516Pro)
c.3121A>C (p.Thr1041Pro)
c.2020A>C (p.Thr674Pro)
c.4348A>C (p.Thr1450Pro)
c.4135A>C (p.Thr1379Pro)
11g.121605121A>GCA383038391SORL1c.4660A>G (p.Thr1554Ala)
c.1492A>G (p.Thr498Ala)
c.505A>G (p.Thr169Ala)
c.1198A>G (p.Thr400Ala)
c.1390A>G (p.Thr464Ala)
c.4546A>G (p.Thr1516Ala)
c.3121A>G (p.Thr1041Ala)
c.2020A>G (p.Thr674Ala)
c.4348A>G (p.Thr1450Ala)
c.4135A>G (p.Thr1379Ala)
11g.121605121A>TCA383038392SORL1c.4660A>T (p.Thr1554Ser)
c.1492A>T (p.Thr498Ser)
c.505A>T (p.Thr169Ser)
c.1198A>T (p.Thr400Ser)
c.1390A>T (p.Thr464Ser)
c.4546A>T (p.Thr1516Ser)
c.3121A>T (p.Thr1041Ser)
c.2020A>T (p.Thr674Ser)
c.4348A>T (p.Thr1450Ser)
c.4135A>T (p.Thr1379Ser)
 gnomAD v4
11g.121605122C>ACA383038393SORL1c.4661C>A (p.Thr1554Asn)
c.1493C>A (p.Thr498Asn)
c.506C>A (p.Thr169Asn)
c.1199C>A (p.Thr400Asn)
c.1391C>A (p.Thr464Asn)
c.4547C>A (p.Thr1516Asn)
c.3122C>A (p.Thr1041Asn)
c.2021C>A (p.Thr674Asn)
c.4349C>A (p.Thr1450Asn)
c.4136C>A (p.Thr1379Asn)
11g.121605122C>GCA383038395SORL1c.4661C>G (p.Thr1554Ser)
c.1493C>G (p.Thr498Ser)
c.506C>G (p.Thr169Ser)
c.1199C>G (p.Thr400Ser)
c.1391C>G (p.Thr464Ser)
c.4547C>G (p.Thr1516Ser)
c.3122C>G (p.Thr1041Ser)
c.2021C>G (p.Thr674Ser)
c.4349C>G (p.Thr1450Ser)
c.4136C>G (p.Thr1379Ser)
11g.121605122C>TCA383038394SORL1c.4661C>T (p.Thr1554Ile)
c.1493C>T (p.Thr498Ile)
c.506C>T (p.Thr169Ile)
c.1199C>T (p.Thr400Ile)
c.1391C>T (p.Thr464Ile)
c.4547C>T (p.Thr1516Ile)
c.3122C>T (p.Thr1041Ile)
c.2021C>T (p.Thr674Ile)
c.4349C>T (p.Thr1450Ile)
c.4136C>T (p.Thr1379Ile)
11g.121605123T>ACA477221651SORL1c.4662T>A (p.Thr1554=)
c.1494T>A (p.Thr498=)
c.507T>A (p.Thr169=)
c.1200T>A (p.Thr400=)
c.1392T>A (p.Thr464=)
c.4548T>A (p.Thr1516=)
c.3123T>A (p.Thr1041=)
c.2022T>A (p.Thr674=)
c.4350T>A (p.Thr1450=)
c.4137T>A (p.Thr1379=)
 dbSNP gnomAD v2 gnomAD v4
11g.121605123T>CCA477221653SORL1c.4662T>C (p.Thr1554=)
c.1494T>C (p.Thr498=)
c.507T>C (p.Thr169=)
c.1200T>C (p.Thr400=)
c.1392T>C (p.Thr464=)
c.4548T>C (p.Thr1516=)
c.3123T>C (p.Thr1041=)
c.2022T>C (p.Thr674=)
c.4350T>C (p.Thr1450=)
c.4137T>C (p.Thr1379=)
11g.121605123T>GCA477221652SORL1c.4662T>G (p.Thr1554=)
c.1494T>G (p.Thr498=)
c.507T>G (p.Thr169=)
c.1200T>G (p.Thr400=)
c.1392T>G (p.Thr464=)
c.4548T>G (p.Thr1516=)
c.3123T>G (p.Thr1041=)
c.2022T>G (p.Thr674=)
c.4350T>G (p.Thr1450=)
c.4137T>G (p.Thr1379=)
11g.121605123T=CA2004922107SORL1c.4662T= (p.Thr1554=)
c.1494T= (p.Thr498=)
c.507T= (p.Thr169=)
c.1200T= (p.Thr400=)
c.1392T= (p.Thr464=)
c.4548T= (p.Thr1516=)
c.3123T= (p.Thr1041=)
c.2022T= (p.Thr674=)
c.4350T= (p.Thr1450=)
c.4137T= (p.Thr1379=)
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.121605124G>ACA6329725SORL1c.4663G>A (p.Val1555Met)
c.1495G>A (p.Val499Met)
c.508G>A (p.Val170Met)
c.1201G>A (p.Val401Met)
c.1393G>A (p.Val465Met)
c.4549G>A (p.Val1517Met)
c.3124G>A (p.Val1042Met)
c.2023G>A (p.Val675Met)
c.4351G>A (p.Val1451Met)
c.4138G>A (p.Val1380Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121605124G>CCA383038397SORL1c.4663G>C (p.Val1555Leu)
c.1495G>C (p.Val499Leu)
c.508G>C (p.Val170Leu)
c.1201G>C (p.Val401Leu)
c.1393G>C (p.Val465Leu)
c.4549G>C (p.Val1517Leu)
c.3124G>C (p.Val1042Leu)
c.2023G>C (p.Val675Leu)
c.4351G>C (p.Val1451Leu)
c.4138G>C (p.Val1380Leu)
11g.121605124G=CA2004922109SORL1c.4663G= (p.Val1555=)
c.1495G= (p.Val499=)
c.508G= (p.Val170=)
c.1201G= (p.Val401=)
c.1393G= (p.Val465=)
c.4549G= (p.Val1517=)
c.3124G= (p.Val1042=)
c.2023G= (p.Val675=)
c.4351G= (p.Val1451=)
c.4138G= (p.Val1380=)
11g.121605124G>TCA383038396SORL1c.4663G>T (p.Val1555Leu)
c.1495G>T (p.Val499Leu)
c.508G>T (p.Val170Leu)
c.1201G>T (p.Val401Leu)
c.1393G>T (p.Val465Leu)
c.4549G>T (p.Val1517Leu)
c.3124G>T (p.Val1042Leu)
c.2023G>T (p.Val675Leu)
c.4351G>T (p.Val1451Leu)
c.4138G>T (p.Val1380Leu)
11g.121605125T>ACA383038398SORL1c.4664T>A (p.Val1555Glu)
c.1496T>A (p.Val499Glu)
c.509T>A (p.Val170Glu)
c.1202T>A (p.Val401Glu)
c.1394T>A (p.Val465Glu)
c.4550T>A (p.Val1517Glu)
c.3125T>A (p.Val1042Glu)
c.2024T>A (p.Val675Glu)
c.4352T>A (p.Val1451Glu)
c.4139T>A (p.Val1380Glu)
11g.121605125T>CCA383038400SORL1c.4664T>C (p.Val1555Ala)
c.1496T>C (p.Val499Ala)
c.509T>C (p.Val170Ala)
c.1202T>C (p.Val401Ala)
c.1394T>C (p.Val465Ala)
c.4550T>C (p.Val1517Ala)
c.3125T>C (p.Val1042Ala)
c.2024T>C (p.Val675Ala)
c.4352T>C (p.Val1451Ala)
c.4139T>C (p.Val1380Ala)
 dbSNP
11g.121605125T>GCA383038399SORL1c.4664T>G (p.Val1555Gly)
c.1496T>G (p.Val499Gly)
c.509T>G (p.Val170Gly)
c.1202T>G (p.Val401Gly)
c.1394T>G (p.Val465Gly)
c.4550T>G (p.Val1517Gly)
c.3125T>G (p.Val1042Gly)
c.2024T>G (p.Val675Gly)
c.4352T>G (p.Val1451Gly)
c.4139T>G (p.Val1380Gly)
11g.121605125T=CA2004922112SORL1c.4664T= (p.Val1555=)
c.1496T= (p.Val499=)
c.509T= (p.Val170=)
c.1202T= (p.Val401=)
c.1394T= (p.Val465=)
c.4550T= (p.Val1517=)
c.3125T= (p.Val1042=)
c.2024T= (p.Val675=)
c.4352T= (p.Val1451=)
c.4139T= (p.Val1380=)
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

Number of alleles fetched