Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36222793_36222801delinsTGTAACAAACA1846333262CLTA,GNEc.1702_1710delinsTTTGTTACA (p.Phe568=)
c.1432_1440delinsTTTGTTACA (p.Phe478=)
c.1609_1617delinsTTTGTTACA (p.Phe537=)
c.1411+572_1411+580delinsTTTGTTACA (n.1411+572_1411+580delinsTTTGTTACA)
c.485+18614_485+18622delinsTGTAACAAA (n.485+18614_485+18622delinsTGTAACAAA)
c.1279_1287delinsTTTGTTACA (p.Phe427=)
c.1594_1602delinsTTTGTTACA (p.Phe532=)
c.1549_1557delinsTTTGTTACA (p.Phe517=)
c.1456_1464delinsTTTGTTACA (p.Phe486=)
9g.36222796_36222803delCA16041310CLTA,GNEc.1702_1709del (p.Phe568ThrfsTer16)
c.1432_1439del (p.Phe478ThrfsTer16)
c.1609_1616del (p.Phe537ThrfsTer16)
c.1411+572_1411+579del (n.1411+572_1411+579del)
c.485+18617_485+18624del (n.485+18617_485+18624del)
c.1279_1286del (p.Phe427ThrfsTer16)
c.1594_1601del (p.Phe532ThrfsTer16)
c.1549_1556del (p.Phe517ThrfsTer16)
c.1456_1463del (p.Phe486ThrfsTer16)
 ClinVar dbSNP gnomAD v4
9g.36222797A=CA1846333280CLTA,GNEc.1706T= (p.Val569=)
c.1436T= (p.Val479=)
c.1613T= (p.Val538=)
c.1411+576T= (n.1411+576T=)
c.485+18618A= (n.485+18618A=)
c.1283T= (p.Val428=)
c.1598T= (p.Val533=)
c.1553T= (p.Val518=)
c.1460T= (p.Val487=)
9g.36222797A>CCA373426086CLTA,GNEc.1706T>G (p.Val569Gly)
c.1436T>G (p.Val479Gly)
c.1613T>G (p.Val538Gly)
c.1411+576T>G (n.1411+576T>G)
c.485+18618A>C (n.485+18618A>C)
c.1283T>G (p.Val428Gly)
c.1598T>G (p.Val533Gly)
c.1553T>G (p.Val518Gly)
c.1460T>G (p.Val487Gly)
9g.36222797A>GCA373426089CLTA,GNEc.1706T>C (p.Val569Ala)
c.1436T>C (p.Val479Ala)
c.1613T>C (p.Val538Ala)
c.1411+576T>C (n.1411+576T>C)
c.485+18618A>G (n.485+18618A>G)
c.1283T>C (p.Val428Ala)
c.1598T>C (p.Val533Ala)
c.1553T>C (p.Val518Ala)
c.1460T>C (p.Val487Ala)
 ClinVar dbSNP
9g.36222797A>TCA373426091CLTA,GNEc.1706T>A (p.Val569Asp)
c.1436T>A (p.Val479Asp)
c.1613T>A (p.Val538Asp)
c.1411+576T>A (n.1411+576T>A)
c.485+18618A>T (n.485+18618A>T)
c.1283T>A (p.Val428Asp)
c.1598T>A (p.Val533Asp)
c.1553T>A (p.Val518Asp)
c.1460T>A (p.Val487Asp)
9g.36222798C>ACA373426093CLTA,GNEc.1705G>T (p.Val569Phe)
c.1435G>T (p.Val479Phe)
c.1612G>T (p.Val538Phe)
c.1411+575G>T (n.1411+575G>T)
c.485+18619C>A (n.485+18619C>A)
c.1282G>T (p.Val428Phe)
c.1597G>T (p.Val533Phe)
c.1552G>T (p.Val518Phe)
c.1459G>T (p.Val487Phe)
9g.36222798C>GCA373426094CLTA,GNEc.1705G>C (p.Val569Leu)
c.1435G>C (p.Val479Leu)
c.1612G>C (p.Val538Leu)
c.1411+575G>C (n.1411+575G>C)
c.485+18619C>G (n.485+18619C>G)
c.1282G>C (p.Val428Leu)
c.1597G>C (p.Val533Leu)
c.1552G>C (p.Val518Leu)
c.1459G>C (p.Val487Leu)
9g.36222798C>TCA373426095CLTA,GNEc.1705G>A (p.Val569Ile)
c.1435G>A (p.Val479Ile)
c.1612G>A (p.Val538Ile)
c.1411+575G>A (n.1411+575G>A)
c.485+18619C>T (n.485+18619C>T)
c.1282G>A (p.Val428Ile)
c.1597G>A (p.Val533Ile)
c.1552G>A (p.Val518Ile)
c.1459G>A (p.Val487Ile)
9g.36222799A=CA1846333287CLTA,GNEc.1704T= (p.Phe568=)
c.1434T= (p.Phe478=)
c.1611T= (p.Phe537=)
c.1411+574T= (n.1411+574T=)
c.485+18620A= (n.485+18620A=)
c.1281T= (p.Phe427=)
c.1596T= (p.Phe532=)
c.1551T= (p.Phe517=)
c.1458T= (p.Phe486=)
9g.36222799A>CCA373426097CLTA,GNEc.1704T>G (p.Phe568Leu)
c.1434T>G (p.Phe478Leu)
c.1611T>G (p.Phe537Leu)
c.1411+574T>G (n.1411+574T>G)
c.485+18620A>C (n.485+18620A>C)
c.1281T>G (p.Phe427Leu)
c.1596T>G (p.Phe532Leu)
c.1551T>G (p.Phe517Leu)
c.1458T>G (p.Phe486Leu)
 dbSNP
9g.36222799A>GCA464495159CLTA,GNEc.1704T>C (p.Phe568=)
c.1434T>C (p.Phe478=)
c.1611T>C (p.Phe537=)
c.1411+574T>C (n.1411+574T>C)
c.485+18620A>G (n.485+18620A>G)
c.1281T>C (p.Phe427=)
c.1596T>C (p.Phe532=)
c.1551T>C (p.Phe517=)
c.1458T>C (p.Phe486=)
 dbSNP gnomAD v2
9g.36222799A>TCA373426099CLTA,GNEc.1704T>A (p.Phe568Leu)
c.1434T>A (p.Phe478Leu)
c.1611T>A (p.Phe537Leu)
c.1411+574T>A (n.1411+574T>A)
c.485+18620A>T (n.485+18620A>T)
c.1281T>A (p.Phe427Leu)
c.1596T>A (p.Phe532Leu)
c.1551T>A (p.Phe517Leu)
c.1458T>A (p.Phe486Leu)
9g.36222800A>CCA373426101CLTA,GNEc.1703T>G (p.Phe568Cys)
c.1433T>G (p.Phe478Cys)
c.1610T>G (p.Phe537Cys)
c.1411+573T>G (n.1411+573T>G)
c.485+18621A>C (n.485+18621A>C)
c.1280T>G (p.Phe427Cys)
c.1595T>G (p.Phe532Cys)
c.1550T>G (p.Phe517Cys)
c.1457T>G (p.Phe486Cys)
9g.36222800A>GCA373426102CLTA,GNEc.1703T>C (p.Phe568Ser)
c.1433T>C (p.Phe478Ser)
c.1610T>C (p.Phe537Ser)
c.1411+573T>C (n.1411+573T>C)
c.485+18621A>G (n.485+18621A>G)
c.1280T>C (p.Phe427Ser)
c.1595T>C (p.Phe532Ser)
c.1550T>C (p.Phe517Ser)
c.1457T>C (p.Phe486Ser)
9g.36222800A>TCA373426103CLTA,GNEc.1703T>A (p.Phe568Tyr)
c.1433T>A (p.Phe478Tyr)
c.1610T>A (p.Phe537Tyr)
c.1411+573T>A (n.1411+573T>A)
c.485+18621A>T (n.485+18621A>T)
c.1280T>A (p.Phe427Tyr)
c.1595T>A (p.Phe532Tyr)
c.1550T>A (p.Phe517Tyr)
c.1457T>A (p.Phe486Tyr)
9g.36222801A=CA1846333291CLTA,GNEc.1702T= (p.Phe568=)
c.1432T= (p.Phe478=)
c.1609T= (p.Phe537=)
c.1411+572T= (n.1411+572T=)
c.485+18622A= (n.485+18622A=)
c.1279T= (p.Phe427=)
c.1594T= (p.Phe532=)
c.1549T= (p.Phe517=)
c.1456T= (p.Phe486=)
9g.36222801A>CCA373426108CLTA,GNEc.1702T>G (p.Phe568Val)
c.1432T>G (p.Phe478Val)
c.1609T>G (p.Phe537Val)
c.1411+572T>G (n.1411+572T>G)
c.485+18622A>C (n.485+18622A>C)
c.1279T>G (p.Phe427Val)
c.1594T>G (p.Phe532Val)
c.1549T>G (p.Phe517Val)
c.1456T>G (p.Phe486Val)
9g.36222801A>GCA373426107CLTA,GNEc.1702T>C (p.Phe568Leu)
c.1432T>C (p.Phe478Leu)
c.1609T>C (p.Phe537Leu)
c.1411+572T>C (n.1411+572T>C)
c.485+18622A>G (n.485+18622A>G)
c.1279T>C (p.Phe427Leu)
c.1594T>C (p.Phe532Leu)
c.1549T>C (p.Phe517Leu)
c.1456T>C (p.Phe486Leu)
 ClinVar dbSNP
9g.36222801A>TCA373426105CLTA,GNEc.1702T>A (p.Phe568Ile)
c.1432T>A (p.Phe478Ile)
c.1609T>A (p.Phe537Ile)
c.1411+572T>A (n.1411+572T>A)
c.485+18622A>T (n.485+18622A>T)
c.1279T>A (p.Phe427Ile)
c.1594T>A (p.Phe532Ile)
c.1549T>A (p.Phe517Ile)
c.1456T>A (p.Phe486Ile)
 gnomAD v4
9g.36222802G>ACA464495160CLTA,GNEc.1701C>T (p.Asn567=)
c.1431C>T (p.Asn477=)
c.1608C>T (p.Asn536=)
c.1411+571C>T (n.1411+571C>T)
c.485+18623G>A (n.485+18623G>A)
c.1278C>T (p.Asn426=)
c.1593C>T (p.Asn531=)
c.1548C>T (p.Asn516=)
c.1455C>T (p.Asn485=)
9g.36222802G>CCA373426110CLTA,GNEc.1701C>G (p.Asn567Lys)
c.1431C>G (p.Asn477Lys)
c.1608C>G (p.Asn536Lys)
c.1411+571C>G (n.1411+571C>G)
c.485+18623G>C (n.485+18623G>C)
c.1278C>G (p.Asn426Lys)
c.1593C>G (p.Asn531Lys)
c.1548C>G (p.Asn516Lys)
c.1455C>G (p.Asn485Lys)
9g.36222802G>TCA373426111CLTA,GNEc.1701C>A (p.Asn567Lys)
c.1431C>A (p.Asn477Lys)
c.1608C>A (p.Asn536Lys)
c.1411+571C>A (n.1411+571C>A)
c.485+18623G>T (n.485+18623G>T)
c.1278C>A (p.Asn426Lys)
c.1593C>A (p.Asn531Lys)
c.1548C>A (p.Asn516Lys)
c.1455C>A (p.Asn485Lys)
 gnomAD v4
9g.36222803T>ACA373426112CLTA,GNEc.1700A>T (p.Asn567Ile)
c.1430A>T (p.Asn477Ile)
c.1607A>T (p.Asn536Ile)
c.1411+570A>T (n.1411+570A>T)
c.485+18624T>A (n.485+18624T>A)
c.1277A>T (p.Asn426Ile)
c.1592A>T (p.Asn531Ile)
c.1547A>T (p.Asn516Ile)
c.1454A>T (p.Asn485Ile)
9g.36222803T>CCA373426114CLTA,GNEc.1700A>G (p.Asn567Ser)
c.1430A>G (p.Asn477Ser)
c.1607A>G (p.Asn536Ser)
c.1411+570A>G (n.1411+570A>G)
c.485+18624T>C (n.485+18624T>C)
c.1277A>G (p.Asn426Ser)
c.1592A>G (p.Asn531Ser)
c.1547A>G (p.Asn516Ser)
c.1454A>G (p.Asn485Ser)
9g.36222803T>GCA373426115CLTA,GNEc.1700A>C (p.Asn567Thr)
c.1430A>C (p.Asn477Thr)
c.1607A>C (p.Asn536Thr)
c.1411+570A>C (n.1411+570A>C)
c.485+18624T>G (n.485+18624T>G)
c.1277A>C (p.Asn426Thr)
c.1592A>C (p.Asn531Thr)
c.1547A>C (p.Asn516Thr)
c.1454A>C (p.Asn485Thr)
9g.36222804T>ACA373426116CLTA,GNEc.1699A>T (p.Asn567Tyr)
c.1429A>T (p.Asn477Tyr)
c.1606A>T (p.Asn536Tyr)
c.1411+569A>T (n.1411+569A>T)
c.485+18625T>A (n.485+18625T>A)
c.1276A>T (p.Asn426Tyr)
c.1591A>T (p.Asn531Tyr)
c.1546A>T (p.Asn516Tyr)
c.1453A>T (p.Asn485Tyr)
9g.36222804T>CCA373426118CLTA,GNEc.1699A>G (p.Asn567Asp)
c.1429A>G (p.Asn477Asp)
c.1606A>G (p.Asn536Asp)
c.1411+569A>G (n.1411+569A>G)
c.485+18625T>C (n.485+18625T>C)
c.1276A>G (p.Asn426Asp)
c.1591A>G (p.Asn531Asp)
c.1546A>G (p.Asn516Asp)
c.1453A>G (p.Asn485Asp)
9g.36222804T>GCA192843479CLTA,GNEc.1699A>C (p.Asn567His)
c.1429A>C (p.Asn477His)
c.1606A>C (p.Asn536His)
c.1411+569A>C (n.1411+569A>C)
c.485+18625T>G (n.485+18625T>G)
c.1276A>C (p.Asn426His)
c.1591A>C (p.Asn531His)
c.1546A>C (p.Asn516His)
c.1453A>C (p.Asn485His)
 dbSNP
9g.36222804T=CA1846333297CLTA,GNEc.1699A= (p.Asn567=)
c.1429A= (p.Asn477=)
c.1606A= (p.Asn536=)
c.1411+569A= (n.1411+569A=)
c.485+18625T= (n.485+18625T=)
c.1276A= (p.Asn426=)
c.1591A= (p.Asn531=)
c.1546A= (p.Asn516=)
c.1453A= (p.Asn485=)
9g.36222805T>ACA373426121CLTA,GNEc.1698A>T (p.Glu566Asp)
c.1428A>T (p.Glu476Asp)
c.1605A>T (p.Glu535Asp)
c.1411+568A>T (n.1411+568A>T)
c.485+18626T>A (n.485+18626T>A)
c.1275A>T (p.Glu425Asp)
c.1590A>T (p.Glu530Asp)
c.1545A>T (p.Glu515Asp)
c.1452A>T (p.Glu484Asp)
9g.36222805T>CCA464495161CLTA,GNEc.1698A>G (p.Glu566=)
c.1428A>G (p.Glu476=)
c.1605A>G (p.Glu535=)
c.1411+568A>G (n.1411+568A>G)
c.485+18626T>C (n.485+18626T>C)
c.1275A>G (p.Glu425=)
c.1590A>G (p.Glu530=)
c.1545A>G (p.Glu515=)
c.1452A>G (p.Glu484=)
9g.36222805T>GCA373426122CLTA,GNEc.1698A>C (p.Glu566Asp)
c.1428A>C (p.Glu476Asp)
c.1605A>C (p.Glu535Asp)
c.1411+568A>C (n.1411+568A>C)
c.485+18626T>G (n.485+18626T>G)
c.1275A>C (p.Glu425Asp)
c.1590A>C (p.Glu530Asp)
c.1545A>C (p.Glu515Asp)
c.1452A>C (p.Glu484Asp)
9g.36222806T>ACA373426125CLTA,GNEc.1697A>T (p.Glu566Val)
c.1427A>T (p.Glu476Val)
c.1604A>T (p.Glu535Val)
c.1411+567A>T (n.1411+567A>T)
c.485+18627T>A (n.485+18627T>A)
c.1274A>T (p.Glu425Val)
c.1589A>T (p.Glu530Val)
c.1544A>T (p.Glu515Val)
c.1451A>T (p.Glu484Val)
9g.36222806T>CCA373426126CLTA,GNEc.1697A>G (p.Glu566Gly)
c.1427A>G (p.Glu476Gly)
c.1604A>G (p.Glu535Gly)
c.1411+567A>G (n.1411+567A>G)
c.485+18627T>C (n.485+18627T>C)
c.1274A>G (p.Glu425Gly)
c.1589A>G (p.Glu530Gly)
c.1544A>G (p.Glu515Gly)
c.1451A>G (p.Glu484Gly)
9g.36222806T>GCA373426127CLTA,GNEc.1697A>C (p.Glu566Ala)
c.1427A>C (p.Glu476Ala)
c.1604A>C (p.Glu535Ala)
c.1411+567A>C (n.1411+567A>C)
c.485+18627T>G (n.485+18627T>G)
c.1274A>C (p.Glu425Ala)
c.1589A>C (p.Glu530Ala)
c.1544A>C (p.Glu515Ala)
c.1451A>C (p.Glu484Ala)
9g.36222807C>ACA373426130CLTA,GNEc.1696G>T (p.Glu566Ter)
c.1426G>T (p.Glu476Ter)
c.1603G>T (p.Glu535Ter)
c.1411+566G>T (n.1411+566G>T)
c.485+18628C>A (n.485+18628C>A)
c.1273G>T (p.Glu425Ter)
c.1588G>T (p.Glu530Ter)
c.1543G>T (p.Glu515Ter)
c.1450G>T (p.Glu484Ter)
9g.36222807C>GCA373426132CLTA,GNEc.1696G>C (p.Glu566Gln)
c.1426G>C (p.Glu476Gln)
c.1603G>C (p.Glu535Gln)
c.1411+566G>C (n.1411+566G>C)
c.485+18628C>G (n.485+18628C>G)
c.1273G>C (p.Glu425Gln)
c.1588G>C (p.Glu530Gln)
c.1543G>C (p.Glu515Gln)
c.1450G>C (p.Glu484Gln)
9g.36222807C>TCA373426128CLTA,GNEc.1696G>A (p.Glu566Lys)
c.1426G>A (p.Glu476Lys)
c.1603G>A (p.Glu535Lys)
c.1411+566G>A (n.1411+566G>A)
c.485+18628C>T (n.485+18628C>T)
c.1273G>A (p.Glu425Lys)
c.1588G>A (p.Glu530Lys)
c.1543G>A (p.Glu515Lys)
c.1450G>A (p.Glu484Lys)
9g.36222808C>ACA464495162CLTA,GNEc.1695G>T (p.Leu565=)
c.1425G>T (p.Leu475=)
c.1602G>T (p.Leu534=)
c.1411+565G>T (n.1411+565G>T)
c.485+18629C>A (n.485+18629C>A)
c.1272G>T (p.Leu424=)
c.1587G>T (p.Leu529=)
c.1542G>T (p.Leu514=)
c.1449G>T (p.Leu483=)
9g.36222808C>GCA464495163CLTA,GNEc.1695G>C (p.Leu565=)
c.1425G>C (p.Leu475=)
c.1602G>C (p.Leu534=)
c.1411+565G>C (n.1411+565G>C)
c.485+18629C>G (n.485+18629C>G)
c.1272G>C (p.Leu424=)
c.1587G>C (p.Leu529=)
c.1542G>C (p.Leu514=)
c.1449G>C (p.Leu483=)
9g.36222808C>TCA464495164CLTA,GNEc.1695G>A (p.Leu565=)
c.1425G>A (p.Leu475=)
c.1602G>A (p.Leu534=)
c.1411+565G>A (n.1411+565G>A)
c.485+18629C>T (n.485+18629C>T)
c.1272G>A (p.Leu424=)
c.1587G>A (p.Leu529=)
c.1542G>A (p.Leu514=)
c.1449G>A (p.Leu483=)
 ClinVar dbSNP
9g.36222809A>CCA373426133CLTA,GNEc.1694T>G (p.Leu565Arg)
c.1424T>G (p.Leu475Arg)
c.1601T>G (p.Leu534Arg)
c.1411+564T>G (n.1411+564T>G)
c.485+18630A>C (n.485+18630A>C)
c.1271T>G (p.Leu424Arg)
c.1586T>G (p.Leu529Arg)
c.1541T>G (p.Leu514Arg)
c.1448T>G (p.Leu483Arg)
9g.36222809A>GCA373426135CLTA,GNEc.1694T>C (p.Leu565Pro)
c.1424T>C (p.Leu475Pro)
c.1601T>C (p.Leu534Pro)
c.1411+564T>C (n.1411+564T>C)
c.485+18630A>G (n.485+18630A>G)
c.1271T>C (p.Leu424Pro)
c.1586T>C (p.Leu529Pro)
c.1541T>C (p.Leu514Pro)
c.1448T>C (p.Leu483Pro)
9g.36222809A>TCA373426136CLTA,GNEc.1694T>A (p.Leu565Gln)
c.1424T>A (p.Leu475Gln)
c.1601T>A (p.Leu534Gln)
c.1411+564T>A (n.1411+564T>A)
c.485+18630A>T (n.485+18630A>T)
c.1271T>A (p.Leu424Gln)
c.1586T>A (p.Leu529Gln)
c.1541T>A (p.Leu514Gln)
c.1448T>A (p.Leu483Gln)
9g.36222810G>ACA464495165CLTA,GNEc.1693C>T (p.Leu565=)
c.1423C>T (p.Leu475=)
c.1600C>T (p.Leu534=)
c.1411+563C>T (n.1411+563C>T)
c.485+18631G>A (n.485+18631G>A)
c.1270C>T (p.Leu424=)
c.1585C>T (p.Leu529=)
c.1540C>T (p.Leu514=)
c.1447C>T (p.Leu483=)
 ClinVar
9g.36222810G>CCA5056462CLTA,GNEc.1693C>G (p.Leu565Val)
c.1423C>G (p.Leu475Val)
c.1600C>G (p.Leu534Val)
c.1411+563C>G (n.1411+563C>G)
c.485+18631G>C (n.485+18631G>C)
c.1270C>G (p.Leu424Val)
c.1585C>G (p.Leu529Val)
c.1540C>G (p.Leu514Val)
c.1447C>G (p.Leu483Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222810G=CA1846333302CLTA,GNEc.1693C= (p.Leu565=)
c.1423C= (p.Leu475=)
c.1600C= (p.Leu534=)
c.1411+563C= (n.1411+563C=)
c.485+18631G= (n.485+18631G=)
c.1270C= (p.Leu424=)
c.1585C= (p.Leu529=)
c.1540C= (p.Leu514=)
c.1447C= (p.Leu483=)
9g.36222810G>TCA373426139CLTA,GNEc.1693C>A (p.Leu565Met)
c.1423C>A (p.Leu475Met)
c.1600C>A (p.Leu534Met)
c.1411+563C>A (n.1411+563C>A)
c.485+18631G>T (n.485+18631G>T)
c.1270C>A (p.Leu424Met)
c.1585C>A (p.Leu529Met)
c.1540C>A (p.Leu514Met)
c.1447C>A (p.Leu483Met)
9g.36222811T>ACA464495166CLTA,GNEc.1692A>T (p.Gly564=)
c.1422A>T (p.Gly474=)
c.1599A>T (p.Gly533=)
c.1411+562A>T (n.1411+562A>T)
c.485+18632T>A (n.485+18632T>A)
c.1269A>T (p.Gly423=)
c.1584A>T (p.Gly528=)
c.1539A>T (p.Gly513=)
c.1446A>T (p.Gly482=)
9g.36222811T>CCA464495167CLTA,GNEc.1692A>G (p.Gly564=)
c.1422A>G (p.Gly474=)
c.1599A>G (p.Gly533=)
c.1411+562A>G (n.1411+562A>G)
c.485+18632T>C (n.485+18632T>C)
c.1269A>G (p.Gly423=)
c.1584A>G (p.Gly528=)
c.1539A>G (p.Gly513=)
c.1446A>G (p.Gly482=)
9g.36222811T>GCA464495168CLTA,GNEc.1692A>C (p.Gly564=)
c.1422A>C (p.Gly474=)
c.1599A>C (p.Gly533=)
c.1411+562A>C (n.1411+562A>C)
c.485+18632T>G (n.485+18632T>G)
c.1269A>C (p.Gly423=)
c.1584A>C (p.Gly528=)
c.1539A>C (p.Gly513=)
c.1446A>C (p.Gly482=)
9g.36222812C>ACA373426143CLTA,GNEc.1691G>T (p.Gly564Val)
c.1421G>T (p.Gly474Val)
c.1598G>T (p.Gly533Val)
c.1411+561G>T (n.1411+561G>T)
c.485+18633C>A (n.485+18633C>A)
c.1268G>T (p.Gly423Val)
c.1583G>T (p.Gly528Val)
c.1538G>T (p.Gly513Val)
c.1445G>T (p.Gly482Val)
9g.36222812C=CA1846333313CLTA,GNEc.1691G= (p.Gly564=)
c.1421G= (p.Gly474=)
c.1598G= (p.Gly533=)
c.1411+561G= (n.1411+561G=)
c.485+18633C= (n.485+18633C=)
c.1268G= (p.Gly423=)
c.1583G= (p.Gly528=)
c.1538G= (p.Gly513=)
c.1445G= (p.Gly482=)
9g.36222812C>GCA373426144CLTA,GNEc.1691G>C (p.Gly564Ala)
c.1421G>C (p.Gly474Ala)
c.1598G>C (p.Gly533Ala)
c.1411+561G>C (n.1411+561G>C)
c.485+18633C>G (n.485+18633C>G)
c.1268G>C (p.Gly423Ala)
c.1583G>C (p.Gly528Ala)
c.1538G>C (p.Gly513Ala)
c.1445G>C (p.Gly482Ala)
 dbSNP gnomAD v4
9g.36222812C>TCA5056463CLTA,GNEc.1691G>A (p.Gly564Glu)
c.1421G>A (p.Gly474Glu)
c.1598G>A (p.Gly533Glu)
c.1411+561G>A (n.1411+561G>A)
c.485+18633C>T (n.485+18633C>T)
c.1268G>A (p.Gly423Glu)
c.1583G>A (p.Gly528Glu)
c.1538G>A (p.Gly513Glu)
c.1445G>A (p.Gly482Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222813C>ACA373426149CLTA,GNEc.1690G>T (p.Gly564Ter)
c.1420G>T (p.Gly474Ter)
c.1597G>T (p.Gly533Ter)
c.1411+560G>T (n.1411+560G>T)
c.485+18634C>A (n.485+18634C>A)
c.1267G>T (p.Gly423Ter)
c.1582G>T (p.Gly528Ter)
c.1537G>T (p.Gly513Ter)
c.1444G>T (p.Gly482Ter)
9g.36222813C>GCA373426151CLTA,GNEc.1690G>C (p.Gly564Arg)
c.1420G>C (p.Gly474Arg)
c.1597G>C (p.Gly533Arg)
c.1411+560G>C (n.1411+560G>C)
c.485+18634C>G (n.485+18634C>G)
c.1267G>C (p.Gly423Arg)
c.1582G>C (p.Gly528Arg)
c.1537G>C (p.Gly513Arg)
c.1444G>C (p.Gly482Arg)
9g.36222813C>TCA373426152CLTA,GNEc.1690G>A (p.Gly564Arg)
c.1420G>A (p.Gly474Arg)
c.1597G>A (p.Gly533Arg)
c.1411+560G>A (n.1411+560G>A)
c.485+18634C>T (n.485+18634C>T)
c.1267G>A (p.Gly423Arg)
c.1582G>A (p.Gly528Arg)
c.1537G>A (p.Gly513Arg)
c.1444G>A (p.Gly482Arg)
9g.36222814C>ACA373426154CLTA,GNEc.1689G>T (p.Lys563Asn)
c.1419G>T (p.Lys473Asn)
c.1596G>T (p.Lys532Asn)
c.1411+559G>T (n.1411+559G>T)
c.485+18635C>A (n.485+18635C>A)
c.1266G>T (p.Lys422Asn)
c.1581G>T (p.Lys527Asn)
c.1536G>T (p.Lys512Asn)
c.1443G>T (p.Lys481Asn)
 dbSNP gnomAD v3 gnomAD v4
9g.36222814C=CA1846333320CLTA,GNEc.1689G= (p.Lys563=)
c.1419G= (p.Lys473=)
c.1596G= (p.Lys532=)
c.1411+559G= (n.1411+559G=)
c.485+18635C= (n.485+18635C=)
c.1266G= (p.Lys422=)
c.1581G= (p.Lys527=)
c.1536G= (p.Lys512=)
c.1443G= (p.Lys481=)
9g.36222814C>GCA373426155CLTA,GNEc.1689G>C (p.Lys563Asn)
c.1419G>C (p.Lys473Asn)
c.1596G>C (p.Lys532Asn)
c.1411+559G>C (n.1411+559G>C)
c.485+18635C>G (n.485+18635C>G)
c.1266G>C (p.Lys422Asn)
c.1581G>C (p.Lys527Asn)
c.1536G>C (p.Lys512Asn)
c.1443G>C (p.Lys481Asn)
9g.36222814C>TCA464495169CLTA,GNEc.1689G>A (p.Lys563=)
c.1419G>A (p.Lys473=)
c.1596G>A (p.Lys532=)
c.1411+559G>A (n.1411+559G>A)
c.485+18635C>T (n.485+18635C>T)
c.1266G>A (p.Lys422=)
c.1581G>A (p.Lys527=)
c.1536G>A (p.Lys512=)
c.1443G>A (p.Lys481=)
9g.36222815T>ACA373426158CLTA,GNEc.1688A>T (p.Lys563Met)
c.1418A>T (p.Lys473Met)
c.1595A>T (p.Lys532Met)
c.1411+558A>T (n.1411+558A>T)
c.485+18636T>A (n.485+18636T>A)
c.1265A>T (p.Lys422Met)
c.1580A>T (p.Lys527Met)
c.1535A>T (p.Lys512Met)
c.1442A>T (p.Lys481Met)
9g.36222815T>CCA373426157CLTA,GNEc.1688A>G (p.Lys563Arg)
c.1418A>G (p.Lys473Arg)
c.1595A>G (p.Lys532Arg)
c.1411+558A>G (n.1411+558A>G)
c.485+18636T>C (n.485+18636T>C)
c.1265A>G (p.Lys422Arg)
c.1580A>G (p.Lys527Arg)
c.1535A>G (p.Lys512Arg)
c.1442A>G (p.Lys481Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222815T>GCA373426156CLTA,GNEc.1688A>C (p.Lys563Thr)
c.1418A>C (p.Lys473Thr)
c.1595A>C (p.Lys532Thr)
c.1411+558A>C (n.1411+558A>C)
c.485+18636T>G (n.485+18636T>G)
c.1265A>C (p.Lys422Thr)
c.1580A>C (p.Lys527Thr)
c.1535A>C (p.Lys512Thr)
c.1442A>C (p.Lys481Thr)
9g.36222815T=CA1846333329CLTA,GNEc.1688A= (p.Lys563=)
c.1418A= (p.Lys473=)
c.1595A= (p.Lys532=)
c.1411+558A= (n.1411+558A=)
c.485+18636T= (n.485+18636T=)
c.1265A= (p.Lys422=)
c.1580A= (p.Lys527=)
c.1535A= (p.Lys512=)
c.1442A= (p.Lys481=)
9g.36222817delCA464495170CLTA,GNEc.1688del (p.Lys563ArgfsTer25)
c.1418del (p.Lys473ArgfsTer25)
c.1595del (p.Lys532ArgfsTer25)
c.1411+558del (n.1411+558del)
c.485+18638del (n.485+18638del)
c.1265del (p.Lys422ArgfsTer25)
c.1580del (p.Lys527ArgfsTer25)
c.1535del (p.Lys512ArgfsTer25)
c.1442del (p.Lys481ArgfsTer25)
 COSMIC COSMIC COSMIC
9g.36222816T>ACA373426160CLTA,GNEc.1687A>T (p.Lys563Ter)
c.1417A>T (p.Lys473Ter)
c.1594A>T (p.Lys532Ter)
c.1411+557A>T (n.1411+557A>T)
c.485+18637T>A (n.485+18637T>A)
c.1264A>T (p.Lys422Ter)
c.1579A>T (p.Lys527Ter)
c.1534A>T (p.Lys512Ter)
c.1441A>T (p.Lys481Ter)
9g.36222816T>CCA5056464CLTA,GNEc.1687A>G (p.Lys563Glu)
c.1417A>G (p.Lys473Glu)
c.1594A>G (p.Lys532Glu)
c.1411+557A>G (n.1411+557A>G)
c.485+18637T>C (n.485+18637T>C)
c.1264A>G (p.Lys422Glu)
c.1579A>G (p.Lys527Glu)
c.1534A>G (p.Lys512Glu)
c.1441A>G (p.Lys481Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222816T>GCA373426162CLTA,GNEc.1687A>C (p.Lys563Gln)
c.1417A>C (p.Lys473Gln)
c.1594A>C (p.Lys532Gln)
c.1411+557A>C (n.1411+557A>C)
c.485+18637T>G (n.485+18637T>G)
c.1264A>C (p.Lys422Gln)
c.1579A>C (p.Lys527Gln)
c.1534A>C (p.Lys512Gln)
c.1441A>C (p.Lys481Gln)
9g.36222816T=CA1846333335CLTA,GNEc.1687A= (p.Lys563=)
c.1417A= (p.Lys473=)
c.1594A= (p.Lys532=)
c.1411+557A= (n.1411+557A=)
c.485+18637T= (n.485+18637T=)
c.1264A= (p.Lys422=)
c.1579A= (p.Lys527=)
c.1534A= (p.Lys512=)
c.1441A= (p.Lys481=)
9g.36222817T>ACA464495171CLTA,GNEc.1686A>T (p.Gly562=)
c.1416A>T (p.Gly472=)
c.1593A>T (p.Gly531=)
c.1411+556A>T (n.1411+556A>T)
c.485+18638T>A (n.485+18638T>A)
c.1263A>T (p.Gly421=)
c.1578A>T (p.Gly526=)
c.1533A>T (p.Gly511=)
c.1440A>T (p.Gly480=)
9g.36222817T>CCA464495173CLTA,GNEc.1686A>G (p.Gly562=)
c.1416A>G (p.Gly472=)
c.1593A>G (p.Gly531=)
c.1411+556A>G (n.1411+556A>G)
c.485+18638T>C (n.485+18638T>C)
c.1263A>G (p.Gly421=)
c.1578A>G (p.Gly526=)
c.1533A>G (p.Gly511=)
c.1440A>G (p.Gly480=)
9g.36222817T>GCA464495172CLTA,GNEc.1686A>C (p.Gly562=)
c.1416A>C (p.Gly472=)
c.1593A>C (p.Gly531=)
c.1411+556A>C (n.1411+556A>C)
c.485+18638T>G (n.485+18638T>G)
c.1263A>C (p.Gly421=)
c.1578A>C (p.Gly526=)
c.1533A>C (p.Gly511=)
c.1440A>C (p.Gly480=)
9g.36222818C>ACA373426165CLTA,GNEc.1685G>T (p.Gly562Val)
c.1415G>T (p.Gly472Val)
c.1592G>T (p.Gly531Val)
c.1411+555G>T (n.1411+555G>T)
c.485+18639C>A (n.485+18639C>A)
c.1262G>T (p.Gly421Val)
c.1577G>T (p.Gly526Val)
c.1532G>T (p.Gly511Val)
c.1439G>T (p.Gly480Val)
9g.36222818C>GCA373426167CLTA,GNEc.1685G>C (p.Gly562Ala)
c.1415G>C (p.Gly472Ala)
c.1592G>C (p.Gly531Ala)
c.1411+555G>C (n.1411+555G>C)
c.485+18639C>G (n.485+18639C>G)
c.1262G>C (p.Gly421Ala)
c.1577G>C (p.Gly526Ala)
c.1532G>C (p.Gly511Ala)
c.1439G>C (p.Gly480Ala)
9g.36222818C>TCA373426169CLTA,GNEc.1685G>A (p.Gly562Glu)
c.1415G>A (p.Gly472Glu)
c.1592G>A (p.Gly531Glu)
c.1411+555G>A (n.1411+555G>A)
c.485+18639C>T (n.485+18639C>T)
c.1262G>A (p.Gly421Glu)
c.1577G>A (p.Gly526Glu)
c.1532G>A (p.Gly511Glu)
c.1439G>A (p.Gly480Glu)
9g.36222819C>ACA373426171CLTA,GNEc.1684G>T (p.Gly562Ter)
c.1414G>T (p.Gly472Ter)
c.1591G>T (p.Gly531Ter)
c.1411+554G>T (n.1411+554G>T)
c.485+18640C>A (n.485+18640C>A)
c.1261G>T (p.Gly421Ter)
c.1576G>T (p.Gly526Ter)
c.1531G>T (p.Gly511Ter)
c.1438G>T (p.Gly480Ter)
9g.36222819C>GCA373426172CLTA,GNEc.1684G>C (p.Gly562Arg)
c.1414G>C (p.Gly472Arg)
c.1591G>C (p.Gly531Arg)
c.1411+554G>C (n.1411+554G>C)
c.485+18640C>G (n.485+18640C>G)
c.1261G>C (p.Gly421Arg)
c.1576G>C (p.Gly526Arg)
c.1531G>C (p.Gly511Arg)
c.1438G>C (p.Gly480Arg)
9g.36222819C>TCA373426174CLTA,GNEc.1684G>A (p.Gly562Arg)
c.1414G>A (p.Gly472Arg)
c.1591G>A (p.Gly531Arg)
c.1411+554G>A (n.1411+554G>A)
c.485+18640C>T (n.485+18640C>T)
c.1261G>A (p.Gly421Arg)
c.1576G>A (p.Gly526Arg)
c.1531G>A (p.Gly511Arg)
c.1438G>A (p.Gly480Arg)
9g.36222820T>ACA373426175CLTA,GNEc.1683A>T (p.Gln561His)
c.1413A>T (p.Gln471His)
c.1590A>T (p.Gln530His)
c.1411+553A>T (n.1411+553A>T)
c.485+18641T>A (n.485+18641T>A)
c.1260A>T (p.Gln420His)
c.1575A>T (p.Gln525His)
c.1530A>T (p.Gln510His)
c.1437A>T (p.Gln479His)
9g.36222820T>CCA464495174CLTA,GNEc.1683A>G (p.Gln561=)
c.1413A>G (p.Gln471=)
c.1590A>G (p.Gln530=)
c.1411+553A>G (n.1411+553A>G)
c.485+18641T>C (n.485+18641T>C)
c.1260A>G (p.Gln420=)
c.1575A>G (p.Gln525=)
c.1530A>G (p.Gln510=)
c.1437A>G (p.Gln479=)
 ClinVar dbSNP
9g.36222820T>GCA373426177CLTA,GNEc.1683A>C (p.Gln561His)
c.1413A>C (p.Gln471His)
c.1590A>C (p.Gln530His)
c.1411+553A>C (n.1411+553A>C)
c.485+18641T>G (n.485+18641T>G)
c.1260A>C (p.Gln420His)
c.1575A>C (p.Gln525His)
c.1530A>C (p.Gln510His)
c.1437A>C (p.Gln479His)
9g.36222821T>ACA373426178CLTA,GNEc.1682A>T (p.Gln561Leu)
c.1412A>T (p.Gln471Leu)
c.1589A>T (p.Gln530Leu)
c.1411+552A>T (n.1411+552A>T)
c.485+18642T>A (n.485+18642T>A)
c.1259A>T (p.Gln420Leu)
c.1574A>T (p.Gln525Leu)
c.1529A>T (p.Gln510Leu)
c.1436A>T (p.Gln479Leu)
9g.36222821T>CCA373426179CLTA,GNEc.1682A>G (p.Gln561Arg)
c.1412A>G (p.Gln471Arg)
c.1589A>G (p.Gln530Arg)
c.1411+552A>G (n.1411+552A>G)
c.485+18642T>C (n.485+18642T>C)
c.1259A>G (p.Gln420Arg)
c.1574A>G (p.Gln525Arg)
c.1529A>G (p.Gln510Arg)
c.1436A>G (p.Gln479Arg)
9g.36222821T>GCA373426181CLTA,GNEc.1682A>C (p.Gln561Pro)
c.1412A>C (p.Gln471Pro)
c.1589A>C (p.Gln530Pro)
c.1411+552A>C (n.1411+552A>C)
c.485+18642T>G (n.485+18642T>G)
c.1259A>C (p.Gln420Pro)
c.1574A>C (p.Gln525Pro)
c.1529A>C (p.Gln510Pro)
c.1436A>C (p.Gln479Pro)
9g.36222822G>ACA373426190CLTA,GNEc.1681C>T (p.Gln561Ter)
c.1411C>T (p.Gln471Ter)
c.1588C>T (p.Gln530Ter)
c.1411+551C>T (n.1411+551C>T)
c.485+18643G>A (n.485+18643G>A)
c.1258C>T (p.Gln420Ter)
c.1573C>T (p.Gln525Ter)
c.1528C>T (p.Gln510Ter)
c.1435C>T (p.Gln479Ter)
9g.36222822G>CCA373426193CLTA,GNEc.1681C>G (p.Gln561Glu)
c.1411C>G (p.Gln471Glu)
c.1588C>G (p.Gln530Glu)
c.1411+551C>G (n.1411+551C>G)
c.485+18643G>C (n.485+18643G>C)
c.1258C>G (p.Gln420Glu)
c.1573C>G (p.Gln525Glu)
c.1528C>G (p.Gln510Glu)
c.1435C>G (p.Gln479Glu)
9g.36222822G>TCA373426189CLTA,GNEc.1681C>A (p.Gln561Lys)
c.1411C>A (p.Gln471Lys)
c.1588C>A (p.Gln530Lys)
c.1411+551C>A (n.1411+551C>A)
c.485+18643G>T (n.485+18643G>T)
c.1258C>A (p.Gln420Lys)
c.1573C>A (p.Gln525Lys)
c.1528C>A (p.Gln510Lys)
c.1435C>A (p.Gln479Lys)
9g.36222823G>ACA464495175CLTA,GNEc.1680C>T (p.Gly560=)
c.1410C>T (p.Gly470=)
c.1587C>T (p.Gly529=)
c.1411+550C>T (n.1411+550C>T)
c.485+18644G>A (n.485+18644G>A)
c.1257C>T (p.Gly419=)
c.1572C>T (p.Gly524=)
c.1527C>T (p.Gly509=)
c.1434C>T (p.Gly478=)
 ClinVar gnomAD v4
9g.36222823G>CCA464495176CLTA,GNEc.1680C>G (p.Gly560=)
c.1410C>G (p.Gly470=)
c.1587C>G (p.Gly529=)
c.1411+550C>G (n.1411+550C>G)
c.485+18644G>C (n.485+18644G>C)
c.1257C>G (p.Gly419=)
c.1572C>G (p.Gly524=)
c.1527C>G (p.Gly509=)
c.1434C>G (p.Gly478=)
9g.36222823G>TCA464495177CLTA,GNEc.1680C>A (p.Gly560=)
c.1410C>A (p.Gly470=)
c.1587C>A (p.Gly529=)
c.1411+550C>A (n.1411+550C>A)
c.485+18644G>T (n.485+18644G>T)
c.1257C>A (p.Gly419=)
c.1572C>A (p.Gly524=)
c.1527C>A (p.Gly509=)
c.1434C>A (p.Gly478=)
 COSMIC COSMIC COSMIC
9g.36222824C>ACA373426199CLTA,GNEc.1679G>T (p.Gly560Val)
c.1409G>T (p.Gly470Val)
c.1586G>T (p.Gly529Val)
c.1411+549G>T (n.1411+549G>T)
c.485+18645C>A (n.485+18645C>A)
c.1256G>T (p.Gly419Val)
c.1571G>T (p.Gly524Val)
c.1526G>T (p.Gly509Val)
c.1433G>T (p.Gly478Val)
9g.36222824C>GCA373426200CLTA,GNEc.1679G>C (p.Gly560Ala)
c.1409G>C (p.Gly470Ala)
c.1586G>C (p.Gly529Ala)
c.1411+549G>C (n.1411+549G>C)
c.485+18645C>G (n.485+18645C>G)
c.1256G>C (p.Gly419Ala)
c.1571G>C (p.Gly524Ala)
c.1526G>C (p.Gly509Ala)
c.1433G>C (p.Gly478Ala)
9g.36222824C>TCA373426202CLTA,GNEc.1679G>A (p.Gly560Asp)
c.1409G>A (p.Gly470Asp)
c.1586G>A (p.Gly529Asp)
c.1411+549G>A (n.1411+549G>A)
c.485+18645C>T (n.485+18645C>T)
c.1256G>A (p.Gly419Asp)
c.1571G>A (p.Gly524Asp)
c.1526G>A (p.Gly509Asp)
c.1433G>A (p.Gly478Asp)
9g.36222825C>ACA373426204CLTA,GNEc.1678G>T (p.Gly560Cys)
c.1408G>T (p.Gly470Cys)
c.1585G>T (p.Gly529Cys)
c.1411+548G>T (n.1411+548G>T)
c.485+18646C>A (n.485+18646C>A)
c.1255G>T (p.Gly419Cys)
c.1570G>T (p.Gly524Cys)
c.1525G>T (p.Gly509Cys)
c.1432G>T (p.Gly478Cys)
9g.36222825C>GCA373426205CLTA,GNEc.1678G>C (p.Gly560Arg)
c.1408G>C (p.Gly470Arg)
c.1585G>C (p.Gly529Arg)
c.1411+548G>C (n.1411+548G>C)
c.485+18646C>G (n.485+18646C>G)
c.1255G>C (p.Gly419Arg)
c.1570G>C (p.Gly524Arg)
c.1525G>C (p.Gly509Arg)
c.1432G>C (p.Gly478Arg)
9g.36222825C>TCA373426207CLTA,GNEc.1678G>A (p.Gly560Ser)
c.1408G>A (p.Gly470Ser)
c.1585G>A (p.Gly529Ser)
c.1411+548G>A (n.1411+548G>A)
c.485+18646C>T (n.485+18646C>T)
c.1255G>A (p.Gly419Ser)
c.1570G>A (p.Gly524Ser)
c.1525G>A (p.Gly509Ser)
c.1432G>A (p.Gly478Ser)
9g.36222826A>CCA373426208CLTA,GNEc.1677T>G (p.Phe559Leu)
c.1407T>G (p.Phe469Leu)
c.1584T>G (p.Phe528Leu)
c.1411+547T>G (n.1411+547T>G)
c.485+18647A>C (n.485+18647A>C)
c.1254T>G (p.Phe418Leu)
c.1569T>G (p.Phe523Leu)
c.1524T>G (p.Phe508Leu)
c.1431T>G (p.Phe477Leu)
9g.36222826A>GCA464495178CLTA,GNEc.1677T>C (p.Phe559=)
c.1407T>C (p.Phe469=)
c.1584T>C (p.Phe528=)
c.1411+547T>C (n.1411+547T>C)
c.485+18647A>G (n.485+18647A>G)
c.1254T>C (p.Phe418=)
c.1569T>C (p.Phe523=)
c.1524T>C (p.Phe508=)
c.1431T>C (p.Phe477=)
9g.36222826A>TCA373426209CLTA,GNEc.1677T>A (p.Phe559Leu)
c.1407T>A (p.Phe469Leu)
c.1584T>A (p.Phe528Leu)
c.1411+547T>A (n.1411+547T>A)
c.485+18647A>T (n.485+18647A>T)
c.1254T>A (p.Phe418Leu)
c.1569T>A (p.Phe523Leu)
c.1524T>A (p.Phe508Leu)
c.1431T>A (p.Phe477Leu)
9g.36222827A=CA1846333348CLTA,GNEc.1676T= (p.Phe559=)
c.1406T= (p.Phe469=)
c.1583T= (p.Phe528=)
c.1411+546T= (n.1411+546T=)
c.485+18648A= (n.485+18648A=)
c.1253T= (p.Phe418=)
c.1568T= (p.Phe523=)
c.1523T= (p.Phe508=)
c.1430T= (p.Phe477=)
9g.36222827A>CCA192843496CLTA,GNEc.1676T>G (p.Phe559Cys)
c.1406T>G (p.Phe469Cys)
c.1583T>G (p.Phe528Cys)
c.1411+546T>G (n.1411+546T>G)
c.485+18648A>C (n.485+18648A>C)
c.1253T>G (p.Phe418Cys)
c.1568T>G (p.Phe523Cys)
c.1523T>G (p.Phe508Cys)
c.1430T>G (p.Phe477Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222827A>GCA373426214CLTA,GNEc.1676T>C (p.Phe559Ser)
c.1406T>C (p.Phe469Ser)
c.1583T>C (p.Phe528Ser)
c.1411+546T>C (n.1411+546T>C)
c.485+18648A>G (n.485+18648A>G)
c.1253T>C (p.Phe418Ser)
c.1568T>C (p.Phe523Ser)
c.1523T>C (p.Phe508Ser)
c.1430T>C (p.Phe477Ser)
 gnomAD v4
9g.36222827A>TCA373426217CLTA,GNEc.1676T>A (p.Phe559Tyr)
c.1406T>A (p.Phe469Tyr)
c.1583T>A (p.Phe528Tyr)
c.1411+546T>A (n.1411+546T>A)
c.485+18648A>T (n.485+18648A>T)
c.1253T>A (p.Phe418Tyr)
c.1568T>A (p.Phe523Tyr)
c.1523T>A (p.Phe508Tyr)
c.1430T>A (p.Phe477Tyr)
9g.36222828A>CCA373426219CLTA,GNEc.1675T>G (p.Phe559Val)
c.1405T>G (p.Phe469Val)
c.1582T>G (p.Phe528Val)
c.1411+545T>G (n.1411+545T>G)
c.485+18649A>C (n.485+18649A>C)
c.1252T>G (p.Phe418Val)
c.1567T>G (p.Phe523Val)
c.1522T>G (p.Phe508Val)
c.1429T>G (p.Phe477Val)
9g.36222828A>GCA373426222CLTA,GNEc.1675T>C (p.Phe559Leu)
c.1405T>C (p.Phe469Leu)
c.1582T>C (p.Phe528Leu)
c.1411+545T>C (n.1411+545T>C)
c.485+18649A>G (n.485+18649A>G)
c.1252T>C (p.Phe418Leu)
c.1567T>C (p.Phe523Leu)
c.1522T>C (p.Phe508Leu)
c.1429T>C (p.Phe477Leu)
9g.36222828A>TCA373426224CLTA,GNEc.1675T>A (p.Phe559Ile)
c.1405T>A (p.Phe469Ile)
c.1582T>A (p.Phe528Ile)
c.1411+545T>A (n.1411+545T>A)
c.485+18649A>T (n.485+18649A>T)
c.1252T>A (p.Phe418Ile)
c.1567T>A (p.Phe523Ile)
c.1522T>A (p.Phe508Ile)
c.1429T>A (p.Phe477Ile)
9g.36222829T>ACA373426227CLTA,GNEc.1674A>T (p.Lys558Asn)
c.1404A>T (p.Lys468Asn)
c.1581A>T (p.Lys527Asn)
c.1411+544A>T (n.1411+544A>T)
c.485+18650T>A (n.485+18650T>A)
c.1251A>T (p.Lys417Asn)
c.1566A>T (p.Lys522Asn)
c.1521A>T (p.Lys507Asn)
c.1428A>T (p.Lys476Asn)
9g.36222829T>CCA464495179CLTA,GNEc.1674A>G (p.Lys558=)
c.1404A>G (p.Lys468=)
c.1581A>G (p.Lys527=)
c.1411+544A>G (n.1411+544A>G)
c.485+18650T>C (n.485+18650T>C)
c.1251A>G (p.Lys417=)
c.1566A>G (p.Lys522=)
c.1521A>G (p.Lys507=)
c.1428A>G (p.Lys476=)
9g.36222829T>GCA373426229CLTA,GNEc.1674A>C (p.Lys558Asn)
c.1404A>C (p.Lys468Asn)
c.1581A>C (p.Lys527Asn)
c.1411+544A>C (n.1411+544A>C)
c.485+18650T>G (n.485+18650T>G)
c.1251A>C (p.Lys417Asn)
c.1566A>C (p.Lys522Asn)
c.1521A>C (p.Lys507Asn)
c.1428A>C (p.Lys476Asn)
9g.36222830T>ACA373426231CLTA,GNEc.1673A>T (p.Lys558Ile)
c.1403A>T (p.Lys468Ile)
c.1580A>T (p.Lys527Ile)
c.1411+543A>T (n.1411+543A>T)
c.485+18651T>A (n.485+18651T>A)
c.1250A>T (p.Lys417Ile)
c.1565A>T (p.Lys522Ile)
c.1520A>T (p.Lys507Ile)
c.1427A>T (p.Lys476Ile)
9g.36222830T>CCA373426233CLTA,GNEc.1673A>G (p.Lys558Arg)
c.1403A>G (p.Lys468Arg)
c.1580A>G (p.Lys527Arg)
c.1411+543A>G (n.1411+543A>G)
c.485+18651T>C (n.485+18651T>C)
c.1250A>G (p.Lys417Arg)
c.1565A>G (p.Lys522Arg)
c.1520A>G (p.Lys507Arg)
c.1427A>G (p.Lys476Arg)
9g.36222830T>GCA373426235CLTA,GNEc.1673A>C (p.Lys558Thr)
c.1403A>C (p.Lys468Thr)
c.1580A>C (p.Lys527Thr)
c.1411+543A>C (n.1411+543A>C)
c.485+18651T>G (n.485+18651T>G)
c.1250A>C (p.Lys417Thr)
c.1565A>C (p.Lys522Thr)
c.1520A>C (p.Lys507Thr)
c.1427A>C (p.Lys476Thr)
9g.36222831T>ACA373426236CLTA,GNEc.1672A>T (p.Lys558Ter)
c.1402A>T (p.Lys468Ter)
c.1579A>T (p.Lys527Ter)
c.1411+542A>T (n.1411+542A>T)
c.485+18652T>A (n.485+18652T>A)
c.1249A>T (p.Lys417Ter)
c.1564A>T (p.Lys522Ter)
c.1519A>T (p.Lys507Ter)
c.1426A>T (p.Lys476Ter)
9g.36222831T>CCA373426238CLTA,GNEc.1672A>G (p.Lys558Glu)
c.1402A>G (p.Lys468Glu)
c.1579A>G (p.Lys527Glu)
c.1411+542A>G (n.1411+542A>G)
c.485+18652T>C (n.485+18652T>C)
c.1249A>G (p.Lys417Glu)
c.1564A>G (p.Lys522Glu)
c.1519A>G (p.Lys507Glu)
c.1426A>G (p.Lys476Glu)
 gnomAD v4
9g.36222831T>GCA373426240CLTA,GNEc.1672A>C (p.Lys558Gln)
c.1402A>C (p.Lys468Gln)
c.1579A>C (p.Lys527Gln)
c.1411+542A>C (n.1411+542A>C)
c.485+18652T>G (n.485+18652T>G)
c.1249A>C (p.Lys417Gln)
c.1564A>C (p.Lys522Gln)
c.1519A>C (p.Lys507Gln)
c.1426A>C (p.Lys476Gln)
9g.36222832C>ACA373426241CLTA,GNEc.1671G>T (p.Arg557Ser)
c.1401G>T (p.Arg467Ser)
c.1578G>T (p.Arg526Ser)
c.1411+541G>T (n.1411+541G>T)
c.485+18653C>A (n.485+18653C>A)
c.1248G>T (p.Arg416Ser)
c.1563G>T (p.Arg521Ser)
c.1518G>T (p.Arg506Ser)
c.1425G>T (p.Arg475Ser)
9g.36222832C>GCA373426243CLTA,GNEc.1671G>C (p.Arg557Ser)
c.1401G>C (p.Arg467Ser)
c.1578G>C (p.Arg526Ser)
c.1411+541G>C (n.1411+541G>C)
c.485+18653C>G (n.485+18653C>G)
c.1248G>C (p.Arg416Ser)
c.1563G>C (p.Arg521Ser)
c.1518G>C (p.Arg506Ser)
c.1425G>C (p.Arg475Ser)
9g.36222832C>TCA464495180CLTA,GNEc.1671G>A (p.Arg557=)
c.1401G>A (p.Arg467=)
c.1578G>A (p.Arg526=)
c.1411+541G>A (n.1411+541G>A)
c.485+18653C>T (n.485+18653C>T)
c.1248G>A (p.Arg416=)
c.1563G>A (p.Arg521=)
c.1518G>A (p.Arg506=)
c.1425G>A (p.Arg475=)
9g.36222833C>ACA373426245CLTA,GNEc.1670G>T (p.Arg557Met)
c.1400G>T (p.Arg467Met)
c.1577G>T (p.Arg526Met)
c.1411+540G>T (n.1411+540G>T)
c.485+18654C>A (n.485+18654C>A)
c.1247G>T (p.Arg416Met)
c.1562G>T (p.Arg521Met)
c.1517G>T (p.Arg506Met)
c.1424G>T (p.Arg475Met)
9g.36222833C>GCA373426246CLTA,GNEc.1670G>C (p.Arg557Thr)
c.1400G>C (p.Arg467Thr)
c.1577G>C (p.Arg526Thr)
c.1411+540G>C (n.1411+540G>C)
c.485+18654C>G (n.485+18654C>G)
c.1247G>C (p.Arg416Thr)
c.1562G>C (p.Arg521Thr)
c.1517G>C (p.Arg506Thr)
c.1424G>C (p.Arg475Thr)
9g.36222833C>TCA373426248CLTA,GNEc.1670G>A (p.Arg557Lys)
c.1400G>A (p.Arg467Lys)
c.1577G>A (p.Arg526Lys)
c.1411+540G>A (n.1411+540G>A)
c.485+18654C>T (n.485+18654C>T)
c.1247G>A (p.Arg416Lys)
c.1562G>A (p.Arg521Lys)
c.1517G>A (p.Arg506Lys)
c.1424G>A (p.Arg475Lys)
9g.36222834T>ACA373426250CLTA,GNEc.1669A>T (p.Arg557Trp)
c.1399A>T (p.Arg467Trp)
c.1576A>T (p.Arg526Trp)
c.1411+539A>T (n.1411+539A>T)
c.485+18655T>A (n.485+18655T>A)
c.1246A>T (p.Arg416Trp)
c.1561A>T (p.Arg521Trp)
c.1516A>T (p.Arg506Trp)
c.1423A>T (p.Arg475Trp)
9g.36222834T>CCA373426253CLTA,GNEc.1669A>G (p.Arg557Gly)
c.1399A>G (p.Arg467Gly)
c.1576A>G (p.Arg526Gly)
c.1411+539A>G (n.1411+539A>G)
c.485+18655T>C (n.485+18655T>C)
c.1246A>G (p.Arg416Gly)
c.1561A>G (p.Arg521Gly)
c.1516A>G (p.Arg506Gly)
c.1423A>G (p.Arg475Gly)
 gnomAD v4
9g.36222834T>GCA464495181CLTA,GNEc.1669A>C (p.Arg557=)
c.1399A>C (p.Arg467=)
c.1576A>C (p.Arg526=)
c.1411+539A>C (n.1411+539A>C)
c.485+18655T>G (n.485+18655T>G)
c.1246A>C (p.Arg416=)
c.1561A>C (p.Arg521=)
c.1516A>C (p.Arg506=)
c.1423A>C (p.Arg475=)
9g.36222835T>ACA373426256CLTA,GNEc.1668A>T (p.Glu556Asp)
c.1398A>T (p.Glu466Asp)
c.1575A>T (p.Glu525Asp)
c.1411+538A>T (n.1411+538A>T)
c.485+18656T>A (n.485+18656T>A)
c.1245A>T (p.Glu415Asp)
c.1560A>T (p.Glu520Asp)
c.1515A>T (p.Glu505Asp)
c.1422A>T (p.Glu474Asp)
9g.36222835T>CCA464495182CLTA,GNEc.1668A>G (p.Glu556=)
c.1398A>G (p.Glu466=)
c.1575A>G (p.Glu525=)
c.1411+538A>G (n.1411+538A>G)
c.485+18656T>C (n.485+18656T>C)
c.1245A>G (p.Glu415=)
c.1560A>G (p.Glu520=)
c.1515A>G (p.Glu505=)
c.1422A>G (p.Glu474=)
9g.36222835T>GCA373426254CLTA,GNEc.1668A>C (p.Glu556Asp)
c.1398A>C (p.Glu466Asp)
c.1575A>C (p.Glu525Asp)
c.1411+538A>C (n.1411+538A>C)
c.485+18656T>G (n.485+18656T>G)
c.1245A>C (p.Glu415Asp)
c.1560A>C (p.Glu520Asp)
c.1515A>C (p.Glu505Asp)
c.1422A>C (p.Glu474Asp)
9g.36222836T>ACA373426258CLTA,GNEc.1667A>T (p.Glu556Val)
c.1397A>T (p.Glu466Val)
c.1574A>T (p.Glu525Val)
c.1411+537A>T (n.1411+537A>T)
c.485+18657T>A (n.485+18657T>A)
c.1244A>T (p.Glu415Val)
c.1559A>T (p.Glu520Val)
c.1514A>T (p.Glu505Val)
c.1421A>T (p.Glu474Val)
9g.36222836T>CCA373426261CLTA,GNEc.1667A>G (p.Glu556Gly)
c.1397A>G (p.Glu466Gly)
c.1574A>G (p.Glu525Gly)
c.1411+537A>G (n.1411+537A>G)
c.485+18657T>C (n.485+18657T>C)
c.1244A>G (p.Glu415Gly)
c.1559A>G (p.Glu520Gly)
c.1514A>G (p.Glu505Gly)
c.1421A>G (p.Glu474Gly)
9g.36222836T>GCA373426260CLTA,GNEc.1667A>C (p.Glu556Ala)
c.1397A>C (p.Glu466Ala)
c.1574A>C (p.Glu525Ala)
c.1411+537A>C (n.1411+537A>C)
c.485+18657T>G (n.485+18657T>G)
c.1244A>C (p.Glu415Ala)
c.1559A>C (p.Glu520Ala)
c.1514A>C (p.Glu505Ala)
c.1421A>C (p.Glu474Ala)
9g.36222837C>ACA373426263CLTA,GNEc.1666G>T (p.Glu556Ter)
c.1396G>T (p.Glu466Ter)
c.1573G>T (p.Glu525Ter)
c.1411+536G>T (n.1411+536G>T)
c.485+18658C>A (n.485+18658C>A)
c.1243G>T (p.Glu415Ter)
c.1558G>T (p.Glu520Ter)
c.1513G>T (p.Glu505Ter)
c.1420G>T (p.Glu474Ter)
9g.36222837C>GCA373426266CLTA,GNEc.1666G>C (p.Glu556Gln)
c.1396G>C (p.Glu466Gln)
c.1573G>C (p.Glu525Gln)
c.1411+536G>C (n.1411+536G>C)
c.485+18658C>G (n.485+18658C>G)
c.1243G>C (p.Glu415Gln)
c.1558G>C (p.Glu520Gln)
c.1513G>C (p.Glu505Gln)
c.1420G>C (p.Glu474Gln)
9g.36222837C>TCA373426264CLTA,GNEc.1666G>A (p.Glu556Lys)
c.1396G>A (p.Glu466Lys)
c.1573G>A (p.Glu525Lys)
c.1411+536G>A (n.1411+536G>A)
c.485+18658C>T (n.485+18658C>T)
c.1243G>A (p.Glu415Lys)
c.1558G>A (p.Glu520Lys)
c.1513G>A (p.Glu505Lys)
c.1420G>A (p.Glu474Lys)
9g.36222838C>ACA192843501CLTA,GNEc.1665G>T (p.Ala555=)
c.1395G>T (p.Ala465=)
c.1572G>T (p.Ala524=)
c.1411+535G>T (n.1411+535G>T)
c.485+18659C>A (n.485+18659C>A)
c.1242G>T (p.Ala414=)
c.1557G>T (p.Ala519=)
c.1512G>T (p.Ala504=)
c.1419G>T (p.Ala473=)
 dbSNP
9g.36222838C=CA1846333357CLTA,GNEc.1665G= (p.Ala555=)
c.1395G= (p.Ala465=)
c.1572G= (p.Ala524=)
c.1411+535G= (n.1411+535G=)
c.485+18659C= (n.485+18659C=)
c.1242G= (p.Ala414=)
c.1557G= (p.Ala519=)
c.1512G= (p.Ala504=)
c.1419G= (p.Ala473=)
9g.36222838C>GCA464495183CLTA,GNEc.1665G>C (p.Ala555=)
c.1395G>C (p.Ala465=)
c.1572G>C (p.Ala524=)
c.1411+535G>C (n.1411+535G>C)
c.485+18659C>G (n.485+18659C>G)
c.1242G>C (p.Ala414=)
c.1557G>C (p.Ala519=)
c.1512G>C (p.Ala504=)
c.1419G>C (p.Ala473=)
 ClinVar
9g.36222838C>TCA5056465CLTA,GNEc.1665G>A (p.Ala555=)
c.1395G>A (p.Ala465=)
c.1572G>A (p.Ala524=)
c.1411+535G>A (n.1411+535G>A)
c.485+18659C>T (n.485+18659C>T)
c.1242G>A (p.Ala414=)
c.1557G>A (p.Ala519=)
c.1512G>A (p.Ala504=)
c.1419G>A (p.Ala473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222839G>ACA5056466CLTA,GNEc.1664C>T (p.Ala555Val)
c.1394C>T (p.Ala465Val)
c.1571C>T (p.Ala524Val)
c.1411+534C>T (n.1411+534C>T)
c.485+18660G>A (n.485+18660G>A)
c.1241C>T (p.Ala414Val)
c.1556C>T (p.Ala519Val)
c.1511C>T (p.Ala504Val)
c.1418C>T (p.Ala473Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222839G>CCA373426272CLTA,GNEc.1664C>G (p.Ala555Gly)
c.1394C>G (p.Ala465Gly)
c.1571C>G (p.Ala524Gly)
c.1411+534C>G (n.1411+534C>G)
c.485+18660G>C (n.485+18660G>C)
c.1241C>G (p.Ala414Gly)
c.1556C>G (p.Ala519Gly)
c.1511C>G (p.Ala504Gly)
c.1418C>G (p.Ala473Gly)
9g.36222839G=CA1846333365CLTA,GNEc.1664C= (p.Ala555=)
c.1394C= (p.Ala465=)
c.1571C= (p.Ala524=)
c.1411+534C= (n.1411+534C=)
c.485+18660G= (n.485+18660G=)
c.1241C= (p.Ala414=)
c.1556C= (p.Ala519=)
c.1511C= (p.Ala504=)
c.1418C= (p.Ala473=)
9g.36222839G>TCA5056467CLTA,GNEc.1664C>A (p.Ala555Glu)
c.1394C>A (p.Ala465Glu)
c.1571C>A (p.Ala524Glu)
c.1411+534C>A (n.1411+534C>A)
c.485+18660G>T (n.485+18660G>T)
c.1241C>A (p.Ala414Glu)
c.1556C>A (p.Ala519Glu)
c.1511C>A (p.Ala504Glu)
c.1418C>A (p.Ala473Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222840C>ACA373426277CLTA,GNEc.1663G>T (p.Ala555Ser)
c.1393G>T (p.Ala465Ser)
c.1570G>T (p.Ala524Ser)
c.1411+533G>T (n.1411+533G>T)
c.485+18661C>A (n.485+18661C>A)
c.1240G>T (p.Ala414Ser)
c.1555G>T (p.Ala519Ser)
c.1510G>T (p.Ala504Ser)
c.1417G>T (p.Ala473Ser)
9g.36222840C>GCA373426283CLTA,GNEc.1663G>C (p.Ala555Pro)
c.1393G>C (p.Ala465Pro)
c.1570G>C (p.Ala524Pro)
c.1411+533G>C (n.1411+533G>C)
c.485+18661C>G (n.485+18661C>G)
c.1240G>C (p.Ala414Pro)
c.1555G>C (p.Ala519Pro)
c.1510G>C (p.Ala504Pro)
c.1417G>C (p.Ala473Pro)
 dbSNP
9g.36222840C>TCA373426285CLTA,GNEc.1663G>A (p.Ala555Thr)
c.1393G>A (p.Ala465Thr)
c.1570G>A (p.Ala524Thr)
c.1411+533G>A (n.1411+533G>A)
c.485+18661C>T (n.485+18661C>T)
c.1240G>A (p.Ala414Thr)
c.1555G>A (p.Ala519Thr)
c.1510G>A (p.Ala504Thr)
c.1417G>A (p.Ala473Thr)
 gnomAD v4
9g.36222841C>ACA464495184CLTA,GNEc.1662G>T (p.Leu554=)
c.1392G>T (p.Leu464=)
c.1569G>T (p.Leu523=)
c.1411+532G>T (n.1411+532G>T)
c.485+18662C>A (n.485+18662C>A)
c.1239G>T (p.Leu413=)
c.1554G>T (p.Leu518=)
c.1509G>T (p.Leu503=)
c.1416G>T (p.Leu472=)
9g.36222841C>GCA464495185CLTA,GNEc.1662G>C (p.Leu554=)
c.1392G>C (p.Leu464=)
c.1569G>C (p.Leu523=)
c.1411+532G>C (n.1411+532G>C)
c.485+18662C>G (n.485+18662C>G)
c.1239G>C (p.Leu413=)
c.1554G>C (p.Leu518=)
c.1509G>C (p.Leu503=)
c.1416G>C (p.Leu472=)
 ClinVar
9g.36222841C>TCA464495186CLTA,GNEc.1662G>A (p.Leu554=)
c.1392G>A (p.Leu464=)
c.1569G>A (p.Leu523=)
c.1411+532G>A (n.1411+532G>A)
c.485+18662C>T (n.485+18662C>T)
c.1239G>A (p.Leu413=)
c.1554G>A (p.Leu518=)
c.1509G>A (p.Leu503=)
c.1416G>A (p.Leu472=)
9g.36222842A>CCA373426288CLTA,GNEc.1661T>G (p.Leu554Arg)
c.1391T>G (p.Leu464Arg)
c.1568T>G (p.Leu523Arg)
c.1411+531T>G (n.1411+531T>G)
c.485+18663A>C (n.485+18663A>C)
c.1238T>G (p.Leu413Arg)
c.1553T>G (p.Leu518Arg)
c.1508T>G (p.Leu503Arg)
c.1415T>G (p.Leu472Arg)
9g.36222842A>GCA373426290CLTA,GNEc.1661T>C (p.Leu554Pro)
c.1391T>C (p.Leu464Pro)
c.1568T>C (p.Leu523Pro)
c.1411+531T>C (n.1411+531T>C)
c.485+18663A>G (n.485+18663A>G)
c.1238T>C (p.Leu413Pro)
c.1553T>C (p.Leu518Pro)
c.1508T>C (p.Leu503Pro)
c.1415T>C (p.Leu472Pro)
9g.36222842A>TCA373426292CLTA,GNEc.1661T>A (p.Leu554Gln)
c.1391T>A (p.Leu464Gln)
c.1568T>A (p.Leu523Gln)
c.1411+531T>A (n.1411+531T>A)
c.485+18663A>T (n.485+18663A>T)
c.1238T>A (p.Leu413Gln)
c.1553T>A (p.Leu518Gln)
c.1508T>A (p.Leu503Gln)
c.1415T>A (p.Leu472Gln)
9g.36222843G>ACA464495187CLTA,GNEc.1660C>T (p.Leu554=)
c.1390C>T (p.Leu464=)
c.1567C>T (p.Leu523=)
c.1411+530C>T (n.1411+530C>T)
c.485+18664G>A (n.485+18664G>A)
c.1237C>T (p.Leu413=)
c.1552C>T (p.Leu518=)
c.1507C>T (p.Leu503=)
c.1414C>T (p.Leu472=)
 gnomAD v4
9g.36222843G>CCA373426293CLTA,GNEc.1660C>G (p.Leu554Val)
c.1390C>G (p.Leu464Val)
c.1567C>G (p.Leu523Val)
c.1411+530C>G (n.1411+530C>G)
c.485+18664G>C (n.485+18664G>C)
c.1237C>G (p.Leu413Val)
c.1552C>G (p.Leu518Val)
c.1507C>G (p.Leu503Val)
c.1414C>G (p.Leu472Val)
 ClinVar dbSNP
9g.36222843G=CA1846333377CLTA,GNEc.1660C= (p.Leu554=)
c.1390C= (p.Leu464=)
c.1567C= (p.Leu523=)
c.1411+530C= (n.1411+530C=)
c.485+18664G= (n.485+18664G=)
c.1237C= (p.Leu413=)
c.1552C= (p.Leu518=)
c.1507C= (p.Leu503=)
c.1414C= (p.Leu472=)
9g.36222843G>TCA373426294CLTA,GNEc.1660C>A (p.Leu554Met)
c.1390C>A (p.Leu464Met)
c.1567C>A (p.Leu523Met)
c.1411+530C>A (n.1411+530C>A)
c.485+18664G>T (n.485+18664G>T)
c.1237C>A (p.Leu413Met)
c.1552C>A (p.Leu518Met)
c.1507C>A (p.Leu503Met)
c.1414C>A (p.Leu472Met)
 ClinVar dbSNP
9g.36222844G>ACA464495188CLTA,GNEc.1659C>T (p.Ala553=)
c.1389C>T (p.Ala463=)
c.1566C>T (p.Ala522=)
c.1411+529C>T (n.1411+529C>T)
c.485+18665G>A (n.485+18665G>A)
c.1236C>T (p.Ala412=)
c.1551C>T (p.Ala517=)
c.1506C>T (p.Ala502=)
c.1413C>T (p.Ala471=)
9g.36222844G>CCA464495189CLTA,GNEc.1659C>G (p.Ala553=)
c.1389C>G (p.Ala463=)
c.1566C>G (p.Ala522=)
c.1411+529C>G (n.1411+529C>G)
c.485+18665G>C (n.485+18665G>C)
c.1236C>G (p.Ala412=)
c.1551C>G (p.Ala517=)
c.1506C>G (p.Ala502=)
c.1413C>G (p.Ala471=)
9g.36222844G>TCA464495190CLTA,GNEc.1659C>A (p.Ala553=)
c.1389C>A (p.Ala463=)
c.1566C>A (p.Ala522=)
c.1411+529C>A (n.1411+529C>A)
c.485+18665G>T (n.485+18665G>T)
c.1236C>A (p.Ala412=)
c.1551C>A (p.Ala517=)
c.1506C>A (p.Ala502=)
c.1413C>A (p.Ala471=)
9g.36222845G>ACA373426296CLTA,GNEc.1658C>T (p.Ala553Val)
c.1388C>T (p.Ala463Val)
c.1565C>T (p.Ala522Val)
c.1411+528C>T (n.1411+528C>T)
c.485+18666G>A (n.485+18666G>A)
c.1235C>T (p.Ala412Val)
c.1550C>T (p.Ala517Val)
c.1505C>T (p.Ala502Val)
c.1412C>T (p.Ala471Val)
 ClinVar dbSNP
9g.36222845G>CCA373426300CLTA,GNEc.1658C>G (p.Ala553Gly)
c.1388C>G (p.Ala463Gly)
c.1565C>G (p.Ala522Gly)
c.1411+528C>G (n.1411+528C>G)
c.485+18666G>C (n.485+18666G>C)
c.1235C>G (p.Ala412Gly)
c.1550C>G (p.Ala517Gly)
c.1505C>G (p.Ala502Gly)
c.1412C>G (p.Ala471Gly)
9g.36222845G=CA1846333385CLTA,GNEc.1658C= (p.Ala553=)
c.1388C= (p.Ala463=)
c.1565C= (p.Ala522=)
c.1411+528C= (n.1411+528C=)
c.485+18666G= (n.485+18666G=)
c.1235C= (p.Ala412=)
c.1550C= (p.Ala517=)
c.1505C= (p.Ala502=)
c.1412C= (p.Ala471=)
9g.36222845G>TCA373426298CLTA,GNEc.1658C>A (p.Ala553Asp)
c.1388C>A (p.Ala463Asp)
c.1565C>A (p.Ala522Asp)
c.1411+528C>A (n.1411+528C>A)
c.485+18666G>T (n.485+18666G>T)
c.1235C>A (p.Ala412Asp)
c.1550C>A (p.Ala517Asp)
c.1505C>A (p.Ala502Asp)
c.1412C>A (p.Ala471Asp)
9g.36222846C>ACA373426301CLTA,GNEc.1657G>T (p.Ala553Ser)
c.1387G>T (p.Ala463Ser)
c.1564G>T (p.Ala522Ser)
c.1411+527G>T (n.1411+527G>T)
c.485+18667C>A (n.485+18667C>A)
c.1234G>T (p.Ala412Ser)
c.1549G>T (p.Ala517Ser)
c.1504G>T (p.Ala502Ser)
c.1411G>T (p.Ala471Ser)
 ClinVar dbSNP
9g.36222846C>GCA373426303CLTA,GNEc.1657G>C (p.Ala553Pro)
c.1387G>C (p.Ala463Pro)
c.1564G>C (p.Ala522Pro)
c.1411+527G>C (n.1411+527G>C)
c.485+18667C>G (n.485+18667C>G)
c.1234G>C (p.Ala412Pro)
c.1549G>C (p.Ala517Pro)
c.1504G>C (p.Ala502Pro)
c.1411G>C (p.Ala471Pro)
9g.36222846C>TCA373426305CLTA,GNEc.1657G>A (p.Ala553Thr)
c.1387G>A (p.Ala463Thr)
c.1564G>A (p.Ala522Thr)
c.1411+527G>A (n.1411+527G>A)
c.485+18667C>T (n.485+18667C>T)
c.1234G>A (p.Ala412Thr)
c.1549G>A (p.Ala517Thr)
c.1504G>A (p.Ala502Thr)
c.1411G>A (p.Ala471Thr)
9g.36222847A>CCA464495191CLTA,GNEc.1656T>G (p.Ala552=)
c.1386T>G (p.Ala462=)
c.1563T>G (p.Ala521=)
c.1411+526T>G (n.1411+526T>G)
c.485+18668A>C (n.485+18668A>C)
c.1233T>G (p.Ala411=)
c.1548T>G (p.Ala516=)
c.1503T>G (p.Ala501=)
c.1410T>G (p.Ala470=)
9g.36222847A>GCA464495192CLTA,GNEc.1656T>C (p.Ala552=)
c.1386T>C (p.Ala462=)
c.1563T>C (p.Ala521=)
c.1411+526T>C (n.1411+526T>C)
c.485+18668A>G (n.485+18668A>G)
c.1233T>C (p.Ala411=)
c.1548T>C (p.Ala516=)
c.1503T>C (p.Ala501=)
c.1410T>C (p.Ala470=)
 ClinVar dbSNP
9g.36222847A>TCA464495193CLTA,GNEc.1656T>A (p.Ala552=)
c.1386T>A (p.Ala462=)
c.1563T>A (p.Ala521=)
c.1411+526T>A (n.1411+526T>A)
c.485+18668A>T (n.485+18668A>T)
c.1233T>A (p.Ala411=)
c.1548T>A (p.Ala516=)
c.1503T>A (p.Ala501=)
c.1410T>A (p.Ala470=)
9g.36222848G>ACA373426307CLTA,GNEc.1655C>T (p.Ala552Val)
c.1385C>T (p.Ala462Val)
c.1562C>T (p.Ala521Val)
c.1411+525C>T (n.1411+525C>T)
c.485+18669G>A (n.485+18669G>A)
c.1232C>T (p.Ala411Val)
c.1547C>T (p.Ala516Val)
c.1502C>T (p.Ala501Val)
c.1409C>T (p.Ala470Val)
9g.36222848G>CCA373426308CLTA,GNEc.1655C>G (p.Ala552Gly)
c.1385C>G (p.Ala462Gly)
c.1562C>G (p.Ala521Gly)
c.1411+525C>G (n.1411+525C>G)
c.485+18669G>C (n.485+18669G>C)
c.1232C>G (p.Ala411Gly)
c.1547C>G (p.Ala516Gly)
c.1502C>G (p.Ala501Gly)
c.1409C>G (p.Ala470Gly)
9g.36222848G>TCA373426310CLTA,GNEc.1655C>A (p.Ala552Asp)
c.1385C>A (p.Ala462Asp)
c.1562C>A (p.Ala521Asp)
c.1411+525C>A (n.1411+525C>A)
c.485+18669G>T (n.485+18669G>T)
c.1232C>A (p.Ala411Asp)
c.1547C>A (p.Ala516Asp)
c.1502C>A (p.Ala501Asp)
c.1409C>A (p.Ala470Asp)
 gnomAD v4
9g.36222849C>ACA373426311CLTA,GNEc.1654G>T (p.Ala552Ser)
c.1384G>T (p.Ala462Ser)
c.1561G>T (p.Ala521Ser)
c.1411+524G>T (n.1411+524G>T)
c.485+18670C>A (n.485+18670C>A)
c.1231G>T (p.Ala411Ser)
c.1546G>T (p.Ala516Ser)
c.1501G>T (p.Ala501Ser)
c.1408G>T (p.Ala470Ser)
9g.36222849C>GCA373426312CLTA,GNEc.1654G>C (p.Ala552Pro)
c.1384G>C (p.Ala462Pro)
c.1561G>C (p.Ala521Pro)
c.1411+524G>C (n.1411+524G>C)
c.485+18670C>G (n.485+18670C>G)
c.1231G>C (p.Ala411Pro)
c.1546G>C (p.Ala516Pro)
c.1501G>C (p.Ala501Pro)
c.1408G>C (p.Ala470Pro)
9g.36222849C>TCA373426314CLTA,GNEc.1654G>A (p.Ala552Thr)
c.1384G>A (p.Ala462Thr)
c.1561G>A (p.Ala521Thr)
c.1411+524G>A (n.1411+524G>A)
c.485+18670C>T (n.485+18670C>T)
c.1231G>A (p.Ala411Thr)
c.1546G>A (p.Ala516Thr)
c.1501G>A (p.Ala501Thr)
c.1408G>A (p.Ala470Thr)
 gnomAD v4
9g.36222850A>CCA373426315CLTA,GNEc.1653T>G (p.Cys551Trp)
c.1383T>G (p.Cys461Trp)
c.1560T>G (p.Cys520Trp)
c.1411+523T>G (n.1411+523T>G)
c.485+18671A>C (n.485+18671A>C)
c.1230T>G (p.Cys410Trp)
c.1545T>G (p.Cys515Trp)
c.1500T>G (p.Cys500Trp)
c.1407T>G (p.Cys469Trp)
9g.36222850A>GCA464495194CLTA,GNEc.1653T>C (p.Cys551=)
c.1383T>C (p.Cys461=)
c.1560T>C (p.Cys520=)
c.1411+523T>C (n.1411+523T>C)
c.485+18671A>G (n.485+18671A>G)
c.1230T>C (p.Cys410=)
c.1545T>C (p.Cys515=)
c.1500T>C (p.Cys500=)
c.1407T>C (p.Cys469=)
9g.36222850A>TCA373426316CLTA,GNEc.1653T>A (p.Cys551Ter)
c.1383T>A (p.Cys461Ter)
c.1560T>A (p.Cys520Ter)
c.1411+523T>A (n.1411+523T>A)
c.485+18671A>T (n.485+18671A>T)
c.1230T>A (p.Cys410Ter)
c.1545T>A (p.Cys515Ter)
c.1500T>A (p.Cys500Ter)
c.1407T>A (p.Cys469Ter)
9g.36222851C>ACA373426319CLTA,GNEc.1652G>T (p.Cys551Phe)
c.1382G>T (p.Cys461Phe)
c.1559G>T (p.Cys520Phe)
c.1411+522G>T (n.1411+522G>T)
c.485+18672C>A (n.485+18672C>A)
c.1229G>T (p.Cys410Phe)
c.1544G>T (p.Cys515Phe)
c.1499G>T (p.Cys500Phe)
c.1406G>T (p.Cys469Phe)
9g.36222851C=CA1846333393CLTA,GNEc.1652G= (p.Cys551=)
c.1382G= (p.Cys461=)
c.1559G= (p.Cys520=)
c.1411+522G= (n.1411+522G=)
c.485+18672C= (n.485+18672C=)
c.1229G= (p.Cys410=)
c.1544G= (p.Cys515=)
c.1499G= (p.Cys500=)
c.1406G= (p.Cys469=)
9g.36222851C>GCA373426318CLTA,GNEc.1652G>C (p.Cys551Ser)
c.1382G>C (p.Cys461Ser)
c.1559G>C (p.Cys520Ser)
c.1411+522G>C (n.1411+522G>C)
c.485+18672C>G (n.485+18672C>G)
c.1229G>C (p.Cys410Ser)
c.1544G>C (p.Cys515Ser)
c.1499G>C (p.Cys500Ser)
c.1406G>C (p.Cys469Ser)
9g.36222851C>TCA373426317CLTA,GNEc.1652G>A (p.Cys551Tyr)
c.1382G>A (p.Cys461Tyr)
c.1559G>A (p.Cys520Tyr)
c.1411+522G>A (n.1411+522G>A)
c.485+18672C>T (n.485+18672C>T)
c.1229G>A (p.Cys410Tyr)
c.1544G>A (p.Cys515Tyr)
c.1499G>A (p.Cys500Tyr)
c.1406G>A (p.Cys469Tyr)
 dbSNP
9g.36222852A=CA1846333398CLTA,GNEc.1651T= (p.Cys551=)
c.1381T= (p.Cys461=)
c.1558T= (p.Cys520=)
c.1411+521T= (n.1411+521T=)
c.485+18673A= (n.485+18673A=)
c.1228T= (p.Cys410=)
c.1543T= (p.Cys515=)
c.1498T= (p.Cys500=)
c.1405T= (p.Cys469=)
9g.36222852A>CCA192843505CLTA,GNEc.1651T>G (p.Cys551Gly)
c.1381T>G (p.Cys461Gly)
c.1558T>G (p.Cys520Gly)
c.1411+521T>G (n.1411+521T>G)
c.485+18673A>C (n.485+18673A>C)
c.1228T>G (p.Cys410Gly)
c.1543T>G (p.Cys515Gly)
c.1498T>G (p.Cys500Gly)
c.1405T>G (p.Cys469Gly)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
9g.36222852A>GCA373426321CLTA,GNEc.1651T>C (p.Cys551Arg)
c.1381T>C (p.Cys461Arg)
c.1558T>C (p.Cys520Arg)
c.1411+521T>C (n.1411+521T>C)
c.485+18673A>G (n.485+18673A>G)
c.1228T>C (p.Cys410Arg)
c.1543T>C (p.Cys515Arg)
c.1498T>C (p.Cys500Arg)
c.1405T>C (p.Cys469Arg)
 dbSNP gnomAD v4
9g.36222852A>TCA373426322CLTA,GNEc.1651T>A (p.Cys551Ser)
c.1381T>A (p.Cys461Ser)
c.1558T>A (p.Cys520Ser)
c.1411+521T>A (n.1411+521T>A)
c.485+18673A>T (n.485+18673A>T)
c.1228T>A (p.Cys410Ser)
c.1543T>A (p.Cys515Ser)
c.1498T>A (p.Cys500Ser)
c.1405T>A (p.Cys469Ser)
9g.36222853G>ACA464495195CLTA,GNEc.1650C>T (p.Asn550=)
c.1380C>T (p.Asn460=)
c.1557C>T (p.Asn519=)
c.1411+520C>T (n.1411+520C>T)
c.485+18674G>A (n.485+18674G>A)
c.1227C>T (p.Asn409=)
c.1542C>T (p.Asn514=)
c.1497C>T (p.Asn499=)
c.1404C>T (p.Asn468=)
9g.36222853G>CCA373426325CLTA,GNEc.1650C>G (p.Asn550Lys)
c.1380C>G (p.Asn460Lys)
c.1557C>G (p.Asn519Lys)
c.1411+520C>G (n.1411+520C>G)
c.485+18674G>C (n.485+18674G>C)
c.1227C>G (p.Asn409Lys)
c.1542C>G (p.Asn514Lys)
c.1497C>G (p.Asn499Lys)
c.1404C>G (p.Asn468Lys)
9g.36222853G>TCA373426326CLTA,GNEc.1650C>A (p.Asn550Lys)
c.1380C>A (p.Asn460Lys)
c.1557C>A (p.Asn519Lys)
c.1411+520C>A (n.1411+520C>A)
c.485+18674G>T (n.485+18674G>T)
c.1227C>A (p.Asn409Lys)
c.1542C>A (p.Asn514Lys)
c.1497C>A (p.Asn499Lys)
c.1404C>A (p.Asn468Lys)
9g.36222854T>ACA373426328CLTA,GNEc.1649A>T (p.Asn550Ile)
c.1379A>T (p.Asn460Ile)
c.1556A>T (p.Asn519Ile)
c.1411+519A>T (n.1411+519A>T)
c.485+18675T>A (n.485+18675T>A)
c.1226A>T (p.Asn409Ile)
c.1541A>T (p.Asn514Ile)
c.1496A>T (p.Asn499Ile)
c.1403A>T (p.Asn468Ile)
9g.36222854T>CCA373426330CLTA,GNEc.1649A>G (p.Asn550Ser)
c.1379A>G (p.Asn460Ser)
c.1556A>G (p.Asn519Ser)
c.1411+519A>G (n.1411+519A>G)
c.485+18675T>C (n.485+18675T>C)
c.1226A>G (p.Asn409Ser)
c.1541A>G (p.Asn514Ser)
c.1496A>G (p.Asn499Ser)
c.1403A>G (p.Asn468Ser)
 ClinVar dbSNP gnomAD v4
9g.36222854T>GCA373426332CLTA,GNEc.1649A>C (p.Asn550Thr)
c.1379A>C (p.Asn460Thr)
c.1556A>C (p.Asn519Thr)
c.1411+519A>C (n.1411+519A>C)
c.485+18675T>G (n.485+18675T>G)
c.1226A>C (p.Asn409Thr)
c.1541A>C (p.Asn514Thr)
c.1496A>C (p.Asn499Thr)
c.1403A>C (p.Asn468Thr)
9g.36222854T=CA1846333402CLTA,GNEc.1649A= (p.Asn550=)
c.1379A= (p.Asn460=)
c.1556A= (p.Asn519=)
c.1411+519A= (n.1411+519A=)
c.485+18675T= (n.485+18675T=)
c.1226A= (p.Asn409=)
c.1541A= (p.Asn514=)
c.1496A= (p.Asn499=)
c.1403A= (p.Asn468=)
9g.36222855T>ACA373426333CLTA,GNEc.1648A>T (p.Asn550Tyr)
c.1378A>T (p.Asn460Tyr)
c.1555A>T (p.Asn519Tyr)
c.1411+518A>T (n.1411+518A>T)
c.485+18676T>A (n.485+18676T>A)
c.1225A>T (p.Asn409Tyr)
c.1540A>T (p.Asn514Tyr)
c.1495A>T (p.Asn499Tyr)
c.1402A>T (p.Asn468Tyr)
9g.36222855T>CCA373426334CLTA,GNEc.1648A>G (p.Asn550Asp)
c.1378A>G (p.Asn460Asp)
c.1555A>G (p.Asn519Asp)
c.1411+518A>G (n.1411+518A>G)
c.485+18676T>C (n.485+18676T>C)
c.1225A>G (p.Asn409Asp)
c.1540A>G (p.Asn514Asp)
c.1495A>G (p.Asn499Asp)
c.1402A>G (p.Asn468Asp)
 COSMIC COSMIC COSMIC
9g.36222855T>GCA373426336CLTA,GNEc.1648A>C (p.Asn550His)
c.1378A>C (p.Asn460His)
c.1555A>C (p.Asn519His)
c.1411+518A>C (n.1411+518A>C)
c.485+18676T>G (n.485+18676T>G)
c.1225A>C (p.Asn409His)
c.1540A>C (p.Asn514His)
c.1495A>C (p.Asn499His)
c.1402A>C (p.Asn468His)
 gnomAD v4
9g.36222856delCA2783550242CLTA,GNEc.1647del (p.Asn550ThrfsTer?)
c.1377del (p.Asn460ThrfsTer?)
c.1554del (p.Asn519ThrfsTer?)
c.1411+517del (n.1411+517del)
c.485+18677del (n.485+18677del)
c.1224del (p.Asn409ThrfsTer?)
c.1539del (p.Asn514ThrfsTer?)
c.1494del (p.Asn499ThrfsTer?)
c.1401del (p.Asn468ThrfsTer?)
9g.36222856G>ACA464495196CLTA,GNEc.1647C>T (p.Gly549=)
c.1377C>T (p.Gly459=)
c.1554C>T (p.Gly518=)
c.1411+517C>T (n.1411+517C>T)
c.485+18677G>A (n.485+18677G>A)
c.1224C>T (p.Gly408=)
c.1539C>T (p.Gly513=)
c.1494C>T (p.Gly498=)
c.1401C>T (p.Gly467=)
9g.36222856G>CCA464495197CLTA,GNEc.1647C>G (p.Gly549=)
c.1377C>G (p.Gly459=)
c.1554C>G (p.Gly518=)
c.1411+517C>G (n.1411+517C>G)
c.485+18677G>C (n.485+18677G>C)
c.1224C>G (p.Gly408=)
c.1539C>G (p.Gly513=)
c.1494C>G (p.Gly498=)
c.1401C>G (p.Gly467=)
 gnomAD v4
9g.36222856G>TCA464495198CLTA,GNEc.1647C>A (p.Gly549=)
c.1377C>A (p.Gly459=)
c.1554C>A (p.Gly518=)
c.1411+517C>A (n.1411+517C>A)
c.485+18677G>T (n.485+18677G>T)
c.1224C>A (p.Gly408=)
c.1539C>A (p.Gly513=)
c.1494C>A (p.Gly498=)
c.1401C>A (p.Gly467=)
 gnomAD v4
9g.36222857C>ACA373426338CLTA,GNEc.1646G>T (p.Gly549Val)
c.1376G>T (p.Gly459Val)
c.1553G>T (p.Gly518Val)
c.1411+516G>T (n.1411+516G>T)
c.485+18678C>A (n.485+18678C>A)
c.1223G>T (p.Gly408Val)
c.1538G>T (p.Gly513Val)
c.1493G>T (p.Gly498Val)
c.1400G>T (p.Gly467Val)
9g.36222857C>GCA373426339CLTA,GNEc.1646G>C (p.Gly549Ala)
c.1376G>C (p.Gly459Ala)
c.1553G>C (p.Gly518Ala)
c.1411+516G>C (n.1411+516G>C)
c.485+18678C>G (n.485+18678C>G)
c.1223G>C (p.Gly408Ala)
c.1538G>C (p.Gly513Ala)
c.1493G>C (p.Gly498Ala)
c.1400G>C (p.Gly467Ala)
9g.36222857C>TCA373426341CLTA,GNEc.1646G>A (p.Gly549Asp)
c.1376G>A (p.Gly459Asp)
c.1553G>A (p.Gly518Asp)
c.1411+516G>A (n.1411+516G>A)
c.485+18678C>T (n.485+18678C>T)
c.1223G>A (p.Gly408Asp)
c.1538G>A (p.Gly513Asp)
c.1493G>A (p.Gly498Asp)
c.1400G>A (p.Gly467Asp)
9g.36222858C>ACA373426347CLTA,GNEc.1645G>T (p.Gly549Cys)
c.1375G>T (p.Gly459Cys)
c.1552G>T (p.Gly518Cys)
c.1411+515G>T (n.1411+515G>T)
c.485+18679C>A (n.485+18679C>A)
c.1222G>T (p.Gly408Cys)
c.1537G>T (p.Gly513Cys)
c.1492G>T (p.Gly498Cys)
c.1399G>T (p.Gly467Cys)
9g.36222858C>GCA373426344CLTA,GNEc.1645G>C (p.Gly549Arg)
c.1375G>C (p.Gly459Arg)
c.1552G>C (p.Gly518Arg)
c.1411+515G>C (n.1411+515G>C)
c.485+18679C>G (n.485+18679C>G)
c.1222G>C (p.Gly408Arg)
c.1537G>C (p.Gly513Arg)
c.1492G>C (p.Gly498Arg)
c.1399G>C (p.Gly467Arg)
9g.36222858C>TCA373426345CLTA,GNEc.1645G>A (p.Gly549Ser)
c.1375G>A (p.Gly459Ser)
c.1552G>A (p.Gly518Ser)
c.1411+515G>A (n.1411+515G>A)
c.485+18679C>T (n.485+18679C>T)
c.1222G>A (p.Gly408Ser)
c.1537G>A (p.Gly513Ser)
c.1492G>A (p.Gly498Ser)
c.1399G>A (p.Gly467Ser)
9g.36222859A>CCA373426350CLTA,GNEc.1644T>G (p.Asp548Glu)
c.1374T>G (p.Asp458Glu)
c.1551T>G (p.Asp517Glu)
c.1411+514T>G (n.1411+514T>G)
c.485+18680A>C (n.485+18680A>C)
c.1221T>G (p.Asp407Glu)
c.1536T>G (p.Asp512Glu)
c.1491T>G (p.Asp497Glu)
c.1398T>G (p.Asp466Glu)
9g.36222859A>GCA464495199CLTA,GNEc.1644T>C (p.Asp548=)
c.1374T>C (p.Asp458=)
c.1551T>C (p.Asp517=)
c.1411+514T>C (n.1411+514T>C)
c.485+18680A>G (n.485+18680A>G)
c.1221T>C (p.Asp407=)
c.1536T>C (p.Asp512=)
c.1491T>C (p.Asp497=)
c.1398T>C (p.Asp466=)
 gnomAD v4
9g.36222859A>TCA373426351CLTA,GNEc.1644T>A (p.Asp548Glu)
c.1374T>A (p.Asp458Glu)
c.1551T>A (p.Asp517Glu)
c.1411+514T>A (n.1411+514T>A)
c.485+18680A>T (n.485+18680A>T)
c.1221T>A (p.Asp407Glu)
c.1536T>A (p.Asp512Glu)
c.1491T>A (p.Asp497Glu)
c.1398T>A (p.Asp466Glu)
9g.36222860T>ACA373426353CLTA,GNEc.1643A>T (p.Asp548Val)
c.1373A>T (p.Asp458Val)
c.1550A>T (p.Asp517Val)
c.1411+513A>T (n.1411+513A>T)
c.485+18681T>A (n.485+18681T>A)
c.1220A>T (p.Asp407Val)
c.1535A>T (p.Asp512Val)
c.1490A>T (p.Asp497Val)
c.1397A>T (p.Asp466Val)
9g.36222860T>CCA373426355CLTA,GNEc.1643A>G (p.Asp548Gly)
c.1373A>G (p.Asp458Gly)
c.1550A>G (p.Asp517Gly)
c.1411+513A>G (n.1411+513A>G)
c.485+18681T>C (n.485+18681T>C)
c.1220A>G (p.Asp407Gly)
c.1535A>G (p.Asp512Gly)
c.1490A>G (p.Asp497Gly)
c.1397A>G (p.Asp466Gly)
9g.36222860T>GCA373426356CLTA,GNEc.1643A>C (p.Asp548Ala)
c.1373A>C (p.Asp458Ala)
c.1550A>C (p.Asp517Ala)
c.1411+513A>C (n.1411+513A>C)
c.485+18681T>G (n.485+18681T>G)
c.1220A>C (p.Asp407Ala)
c.1535A>C (p.Asp512Ala)
c.1490A>C (p.Asp497Ala)
c.1397A>C (p.Asp466Ala)
9g.36222861delCA2689945670CLTA,GNEc.1642del (p.Asp548MetfsTer?)
c.1372del (p.Asp458MetfsTer?)
c.1549del (p.Asp517MetfsTer?)
c.1411+512del (n.1411+512del)
c.485+18682del (n.485+18682del)
c.1219del (p.Asp407MetfsTer?)
c.1534del (p.Asp512MetfsTer?)
c.1489del (p.Asp497MetfsTer?)
c.1396del (p.Asp466MetfsTer?)
 gnomAD v4
9g.36222861C>ACA373426358CLTA,GNEc.1642G>T (p.Asp548Tyr)
c.1372G>T (p.Asp458Tyr)
c.1549G>T (p.Asp517Tyr)
c.1411+512G>T (n.1411+512G>T)
c.485+18682C>A (n.485+18682C>A)
c.1219G>T (p.Asp407Tyr)
c.1534G>T (p.Asp512Tyr)
c.1489G>T (p.Asp497Tyr)
c.1396G>T (p.Asp466Tyr)
9g.36222861C>GCA373426359CLTA,GNEc.1642G>C (p.Asp548His)
c.1372G>C (p.Asp458His)
c.1549G>C (p.Asp517His)
c.1411+512G>C (n.1411+512G>C)
c.485+18682C>G (n.485+18682C>G)
c.1219G>C (p.Asp407His)
c.1534G>C (p.Asp512His)
c.1489G>C (p.Asp497His)
c.1396G>C (p.Asp466His)
9g.36222861C>TCA373426361CLTA,GNEc.1642G>A (p.Asp548Asn)
c.1372G>A (p.Asp458Asn)
c.1549G>A (p.Asp517Asn)
c.1411+512G>A (n.1411+512G>A)
c.485+18682C>T (n.485+18682C>T)
c.1219G>A (p.Asp407Asn)
c.1534G>A (p.Asp512Asn)
c.1489G>A (p.Asp497Asn)
c.1396G>A (p.Asp466Asn)
 gnomAD v4
9g.36222862A=CA1846333406CLTA,GNEc.1641T= (p.Asn547=)
c.1371T= (p.Asn457=)
c.1548T= (p.Asn516=)
c.1411+511T= (n.1411+511T=)
c.485+18683A= (n.485+18683A=)
c.1218T= (p.Asn406=)
c.1533T= (p.Asn511=)
c.1488T= (p.Asn496=)
c.1395T= (p.Asn465=)
9g.36222862A>CCA373426363CLTA,GNEc.1641T>G (p.Asn547Lys)
c.1371T>G (p.Asn457Lys)
c.1548T>G (p.Asn516Lys)
c.1411+511T>G (n.1411+511T>G)
c.485+18683A>C (n.485+18683A>C)
c.1218T>G (p.Asn406Lys)
c.1533T>G (p.Asn511Lys)
c.1488T>G (p.Asn496Lys)
c.1395T>G (p.Asn465Lys)
9g.36222862A>GCA464495200CLTA,GNEc.1641T>C (p.Asn547=)
c.1371T>C (p.Asn457=)
c.1548T>C (p.Asn516=)
c.1411+511T>C (n.1411+511T>C)
c.485+18683A>G (n.485+18683A>G)
c.1218T>C (p.Asn406=)
c.1533T>C (p.Asn511=)
c.1488T>C (p.Asn496=)
c.1395T>C (p.Asn465=)
 dbSNP gnomAD v3 gnomAD v4
9g.36222862A>TCA373426364CLTA,GNEc.1641T>A (p.Asn547Lys)
c.1371T>A (p.Asn457Lys)
c.1548T>A (p.Asn516Lys)
c.1411+511T>A (n.1411+511T>A)
c.485+18683A>T (n.485+18683A>T)
c.1218T>A (p.Asn406Lys)
c.1533T>A (p.Asn511Lys)
c.1488T>A (p.Asn496Lys)
c.1395T>A (p.Asn465Lys)
9g.36222862_36222864delinsATTCA1846333407CLTA,GNEc.1639_1641delinsAAT (p.Asn547=)
c.1369_1371delinsAAT (p.Asn457=)
c.1546_1548delinsAAT (p.Asn516=)
c.1411+509_1411+511delinsAAT (n.1411+509_1411+511delinsAAT)
c.485+18683_485+18685delinsATT (n.485+18683_485+18685delinsATT)
c.1216_1218delinsAAT (p.Asn406=)
c.1531_1533delinsAAT (p.Asn511=)
c.1486_1488delinsAAT (p.Asn496=)
c.1393_1395delinsAAT (p.Asn465=)
9g.36222863T>ACA373426365CLTA,GNEc.1640A>T (p.Asn547Ile)
c.1370A>T (p.Asn457Ile)
c.1547A>T (p.Asn516Ile)
c.1411+510A>T (n.1411+510A>T)
c.485+18684T>A (n.485+18684T>A)
c.1217A>T (p.Asn406Ile)
c.1532A>T (p.Asn511Ile)
c.1487A>T (p.Asn496Ile)
c.1394A>T (p.Asn465Ile)
9g.36222863T>CCA373426366CLTA,GNEc.1640A>G (p.Asn547Ser)
c.1370A>G (p.Asn457Ser)
c.1547A>G (p.Asn516Ser)
c.1411+510A>G (n.1411+510A>G)
c.485+18684T>C (n.485+18684T>C)
c.1217A>G (p.Asn406Ser)
c.1532A>G (p.Asn511Ser)
c.1487A>G (p.Asn496Ser)
c.1394A>G (p.Asn465Ser)
 gnomAD v4
9g.36222863T>GCA373426367CLTA,GNEc.1640A>C (p.Asn547Thr)
c.1370A>C (p.Asn457Thr)
c.1547A>C (p.Asn516Thr)
c.1411+510A>C (n.1411+510A>C)
c.485+18684T>G (n.485+18684T>G)
c.1217A>C (p.Asn406Thr)
c.1532A>C (p.Asn511Thr)
c.1487A>C (p.Asn496Thr)
c.1394A>C (p.Asn465Thr)
9g.36222863_36222864delCA916083046CLTA,GNEc.1639_1640del (p.Asn547Ter)
c.1369_1370del (p.Asn457Ter)
c.1546_1547del (p.Asn516Ter)
c.1411+509_1411+510del (n.1411+509_1411+510del)
c.485+18684_485+18685del (n.485+18684_485+18685del)
c.1216_1217del (p.Asn406Ter)
c.1531_1532del (p.Asn511Ter)
c.1486_1487del (p.Asn496Ter)
c.1393_1394del (p.Asn465Ter)
 ClinVar dbSNP gnomAD v4
9g.36222864T>ACA373426369CLTA,GNEc.1639A>T (p.Asn547Tyr)
c.1369A>T (p.Asn457Tyr)
c.1546A>T (p.Asn516Tyr)
c.1411+509A>T (n.1411+509A>T)
c.485+18685T>A (n.485+18685T>A)
c.1216A>T (p.Asn406Tyr)
c.1531A>T (p.Asn511Tyr)
c.1486A>T (p.Asn496Tyr)
c.1393A>T (p.Asn465Tyr)
9g.36222864T>CCA373426370CLTA,GNEc.1639A>G (p.Asn547Asp)
c.1369A>G (p.Asn457Asp)
c.1546A>G (p.Asn516Asp)
c.1411+509A>G (n.1411+509A>G)
c.485+18685T>C (n.485+18685T>C)
c.1216A>G (p.Asn406Asp)
c.1531A>G (p.Asn511Asp)
c.1486A>G (p.Asn496Asp)
c.1393A>G (p.Asn465Asp)
9g.36222864T>GCA373426368CLTA,GNEc.1639A>C (p.Asn547His)
c.1369A>C (p.Asn457His)
c.1546A>C (p.Asn516His)
c.1411+509A>C (n.1411+509A>C)
c.485+18685T>G (n.485+18685T>G)
c.1216A>C (p.Asn406His)
c.1531A>C (p.Asn511His)
c.1486A>C (p.Asn496His)
c.1393A>C (p.Asn465His)
 ClinVar dbSNP
9g.36222864T=CA1846333421CLTA,GNEc.1639A= (p.Asn547=)
c.1369A= (p.Asn457=)
c.1546A= (p.Asn516=)
c.1411+509A= (n.1411+509A=)
c.485+18685T= (n.485+18685T=)
c.1216A= (p.Asn406=)
c.1531A= (p.Asn511=)
c.1486A= (p.Asn496=)
c.1393A= (p.Asn465=)
9g.36222865_36222868delCA2689945671CLTA,GNEc.1636_1639del (p.Asp546MetfsTer?)
c.1366_1369del (p.Asp456MetfsTer?)
c.1543_1546del (p.Asp515MetfsTer?)
c.1411+506_1411+509del (n.1411+506_1411+509del)
c.485+18686_485+18689del (n.485+18686_485+18689del)
c.1213_1216del (p.Asp405MetfsTer?)
c.1528_1531del (p.Asp510MetfsTer?)
c.1483_1486del (p.Asp495MetfsTer?)
c.1390_1393del (p.Asp464MetfsTer?)
 gnomAD v4
9g.36222865G>ACA5056468CLTA,GNEc.1638C>T (p.Asp546=)
c.1368C>T (p.Asp456=)
c.1545C>T (p.Asp515=)
c.1411+508C>T (n.1411+508C>T)
c.485+18686G>A (n.485+18686G>A)
c.1215C>T (p.Asp405=)
c.1530C>T (p.Asp510=)
c.1485C>T (p.Asp495=)
c.1392C>T (p.Asp464=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222865G>CCA373426372CLTA,GNEc.1638C>G (p.Asp546Glu)
c.1368C>G (p.Asp456Glu)
c.1545C>G (p.Asp515Glu)
c.1411+508C>G (n.1411+508C>G)
c.485+18686G>C (n.485+18686G>C)
c.1215C>G (p.Asp405Glu)
c.1530C>G (p.Asp510Glu)
c.1485C>G (p.Asp495Glu)
c.1392C>G (p.Asp464Glu)
9g.36222865G=CA1846333429CLTA,GNEc.1638C= (p.Asp546=)
c.1368C= (p.Asp456=)
c.1545C= (p.Asp515=)
c.1411+508C= (n.1411+508C=)
c.485+18686G= (n.485+18686G=)
c.1215C= (p.Asp405=)
c.1530C= (p.Asp510=)
c.1485C= (p.Asp495=)
c.1392C= (p.Asp464=)
9g.36222865G>TCA373426371CLTA,GNEc.1638C>A (p.Asp546Glu)
c.1368C>A (p.Asp456Glu)
c.1545C>A (p.Asp515Glu)
c.1411+508C>A (n.1411+508C>A)
c.485+18686G>T (n.485+18686G>T)
c.1215C>A (p.Asp405Glu)
c.1530C>A (p.Asp510Glu)
c.1485C>A (p.Asp495Glu)
c.1392C>A (p.Asp464Glu)
9g.36222865_36222867delinsGTCCA1846333430CLTA,GNEc.1636_1638delinsGAC (p.Asp546=)
c.1366_1368delinsGAC (p.Asp456=)
c.1543_1545delinsGAC (p.Asp515=)
c.1411+506_1411+508delinsGAC (n.1411+506_1411+508delinsGAC)
c.485+18686_485+18688delinsGTC (n.485+18686_485+18688delinsGTC)
c.1213_1215delinsGAC (p.Asp405=)
c.1528_1530delinsGAC (p.Asp510=)
c.1483_1485delinsGAC (p.Asp495=)
c.1390_1392delinsGAC (p.Asp464=)
9g.36222866T>ACA373426374CLTA,GNEc.1637A>T (p.Asp546Val)
c.1367A>T (p.Asp456Val)
c.1544A>T (p.Asp515Val)
c.1411+507A>T (n.1411+507A>T)
c.485+18687T>A (n.485+18687T>A)
c.1214A>T (p.Asp405Val)
c.1529A>T (p.Asp510Val)
c.1484A>T (p.Asp495Val)
c.1391A>T (p.Asp464Val)
9g.36222866T>CCA373426376CLTA,GNEc.1637A>G (p.Asp546Gly)
c.1367A>G (p.Asp456Gly)
c.1544A>G (p.Asp515Gly)
c.1411+507A>G (n.1411+507A>G)
c.485+18687T>C (n.485+18687T>C)
c.1214A>G (p.Asp405Gly)
c.1529A>G (p.Asp510Gly)
c.1484A>G (p.Asp495Gly)
c.1391A>G (p.Asp464Gly)
9g.36222866T>GCA373426378CLTA,GNEc.1637A>C (p.Asp546Ala)
c.1367A>C (p.Asp456Ala)
c.1544A>C (p.Asp515Ala)
c.1411+507A>C (n.1411+507A>C)
c.485+18687T>G (n.485+18687T>G)
c.1214A>C (p.Asp405Ala)
c.1529A>C (p.Asp510Ala)
c.1484A>C (p.Asp495Ala)
c.1391A>C (p.Asp464Ala)
9g.36222867_36222868delCA16041311CLTA,GNEc.1636_1637del (p.Asp546GlnfsTer2)
c.1366_1367del (p.Asp456GlnfsTer2)
c.1543_1544del (p.Asp515GlnfsTer2)
c.1411+506_1411+507del (n.1411+506_1411+507del)
c.485+18688_485+18689del (n.485+18688_485+18689del)
c.1213_1214del (p.Asp405GlnfsTer2)
c.1528_1529del (p.Asp510GlnfsTer2)
c.1483_1484del (p.Asp495GlnfsTer2)
c.1390_1391del (p.Asp464GlnfsTer2)
 ClinVar dbSNP
9g.36222866_36222869delCA2695206256CLTA,GNEc.1634_1637del (p.Val545AlafsTer?)
c.1364_1367del (p.Val455AlafsTer?)
c.1541_1544del (p.Val514AlafsTer?)
c.1411+504_1411+507del (n.1411+504_1411+507del)
c.485+18687_485+18690del (n.485+18687_485+18690del)
c.1211_1214del (p.Val404AlafsTer?)
c.1526_1529del (p.Val509AlafsTer?)
c.1481_1484del (p.Val494AlafsTer?)
c.1388_1391del (p.Val463AlafsTer?)
9g.36222867C>ACA373426383CLTA,GNEc.1636G>T (p.Asp546Tyr)
c.1366G>T (p.Asp456Tyr)
c.1543G>T (p.Asp515Tyr)
c.1411+506G>T (n.1411+506G>T)
c.485+18688C>A (n.485+18688C>A)
c.1213G>T (p.Asp405Tyr)
c.1528G>T (p.Asp510Tyr)
c.1483G>T (p.Asp495Tyr)
c.1390G>T (p.Asp464Tyr)
9g.36222867C>GCA373426385CLTA,GNEc.1636G>C (p.Asp546His)
c.1366G>C (p.Asp456His)
c.1543G>C (p.Asp515His)
c.1411+506G>C (n.1411+506G>C)
c.485+18688C>G (n.485+18688C>G)
c.1213G>C (p.Asp405His)
c.1528G>C (p.Asp510His)
c.1483G>C (p.Asp495His)
c.1390G>C (p.Asp464His)
9g.36222867C>TCA373426386CLTA,GNEc.1636G>A (p.Asp546Asn)
c.1366G>A (p.Asp456Asn)
c.1543G>A (p.Asp515Asn)
c.1411+506G>A (n.1411+506G>A)
c.485+18688C>T (n.485+18688C>T)
c.1213G>A (p.Asp405Asn)
c.1528G>A (p.Asp510Asn)
c.1483G>A (p.Asp495Asn)
c.1390G>A (p.Asp464Asn)
9g.36222868T>ACA464495203CLTA,GNEc.1635A>T (p.Val545=)
c.1365A>T (p.Val455=)
c.1542A>T (p.Val514=)
c.1411+505A>T (n.1411+505A>T)
c.485+18689T>A (n.485+18689T>A)
c.1212A>T (p.Val404=)
c.1527A>T (p.Val509=)
c.1482A>T (p.Val494=)
c.1389A>T (p.Val463=)
9g.36222868T>CCA464495202CLTA,GNEc.1635A>G (p.Val545=)
c.1365A>G (p.Val455=)
c.1542A>G (p.Val514=)
c.1411+505A>G (n.1411+505A>G)
c.485+18689T>C (n.485+18689T>C)
c.1212A>G (p.Val404=)
c.1527A>G (p.Val509=)
c.1482A>G (p.Val494=)
c.1389A>G (p.Val463=)
9g.36222868T>GCA464495201CLTA,GNEc.1635A>C (p.Val545=)
c.1365A>C (p.Val455=)
c.1542A>C (p.Val514=)
c.1411+505A>C (n.1411+505A>C)
c.485+18689T>G (n.485+18689T>G)
c.1212A>C (p.Val404=)
c.1527A>C (p.Val509=)
c.1482A>C (p.Val494=)
c.1389A>C (p.Val463=)
9g.36222868dupCA2579338360CLTA,GNEc.1635dup (p.Asp546ArgfsTer3)
c.1365dup (p.Asp456ArgfsTer3)
c.1542dup (p.Asp515ArgfsTer3)
c.1411+505dup (n.1411+505dup)
c.485+18689dup (n.485+18689dup)
c.1212dup (p.Asp405ArgfsTer3)
c.1527dup (p.Asp510ArgfsTer3)
c.1482dup (p.Asp495ArgfsTer3)
c.1389dup (p.Asp464ArgfsTer3)
 ClinVar gnomAD v4
9g.36222869A=CA1846333439CLTA,GNEc.1634T= (p.Val545=)
c.1364T= (p.Val455=)
c.1541T= (p.Val514=)
c.1411+504T= (n.1411+504T=)
c.485+18690A= (n.485+18690A=)
c.1211T= (p.Val404=)
c.1526T= (p.Val509=)
c.1481T= (p.Val494=)
c.1388T= (p.Val463=)
9g.36222869A>CCA373426388CLTA,GNEc.1634T>G (p.Val545Gly)
c.1364T>G (p.Val455Gly)
c.1541T>G (p.Val514Gly)
c.1411+504T>G (n.1411+504T>G)
c.485+18690A>C (n.485+18690A>C)
c.1211T>G (p.Val404Gly)
c.1526T>G (p.Val509Gly)
c.1481T>G (p.Val494Gly)
c.1388T>G (p.Val463Gly)
9g.36222869A>GCA373426390CLTA,GNEc.1634T>C (p.Val545Ala)
c.1364T>C (p.Val455Ala)
c.1541T>C (p.Val514Ala)
c.1411+504T>C (n.1411+504T>C)
c.485+18690A>G (n.485+18690A>G)
c.1211T>C (p.Val404Ala)
c.1526T>C (p.Val509Ala)
c.1481T>C (p.Val494Ala)
c.1388T>C (p.Val463Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222869A>TCA373426392CLTA,GNEc.1634T>A (p.Val545Glu)
c.1364T>A (p.Val455Glu)
c.1541T>A (p.Val514Glu)
c.1411+504T>A (n.1411+504T>A)
c.485+18690A>T (n.485+18690A>T)
c.1211T>A (p.Val404Glu)
c.1526T>A (p.Val509Glu)
c.1481T>A (p.Val494Glu)
c.1388T>A (p.Val463Glu)
9g.36222870C>ACA373426397CLTA,GNEc.1633G>T (p.Val545Leu)
c.1363G>T (p.Val455Leu)
c.1540G>T (p.Val514Leu)
c.1411+503G>T (n.1411+503G>T)
c.485+18691C>A (n.485+18691C>A)
c.1210G>T (p.Val404Leu)
c.1525G>T (p.Val509Leu)
c.1480G>T (p.Val494Leu)
c.1387G>T (p.Val463Leu)
9g.36222870C>GCA373426396CLTA,GNEc.1633G>C (p.Val545Leu)
c.1363G>C (p.Val455Leu)
c.1540G>C (p.Val514Leu)
c.1411+503G>C (n.1411+503G>C)
c.485+18691C>G (n.485+18691C>G)
c.1210G>C (p.Val404Leu)
c.1525G>C (p.Val509Leu)
c.1480G>C (p.Val494Leu)
c.1387G>C (p.Val463Leu)
9g.36222870C>TCA373426394CLTA,GNEc.1633G>A (p.Val545Ile)
c.1363G>A (p.Val455Ile)
c.1540G>A (p.Val514Ile)
c.1411+503G>A (n.1411+503G>A)
c.485+18691C>T (n.485+18691C>T)
c.1210G>A (p.Val404Ile)
c.1525G>A (p.Val509Ile)
c.1480G>A (p.Val494Ile)
c.1387G>A (p.Val463Ile)
9g.36222871C>ACA373426399CLTA,GNEc.1632G>T (p.Trp544Cys)
c.1362G>T (p.Trp454Cys)
c.1539G>T (p.Trp513Cys)
c.1411+502G>T (n.1411+502G>T)
c.485+18692C>A (n.485+18692C>A)
c.1209G>T (p.Trp403Cys)
c.1524G>T (p.Trp508Cys)
c.1479G>T (p.Trp493Cys)
c.1386G>T (p.Trp462Cys)
9g.36222871C=CA1846333443CLTA,GNEc.1632G= (p.Trp544=)
c.1362G= (p.Trp454=)
c.1539G= (p.Trp513=)
c.1411+502G= (n.1411+502G=)
c.485+18692C= (n.485+18692C=)
c.1209G= (p.Trp403=)
c.1524G= (p.Trp508=)
c.1479G= (p.Trp493=)
c.1386G= (p.Trp462=)
9g.36222871C>GCA373426401CLTA,GNEc.1632G>C (p.Trp544Cys)
c.1362G>C (p.Trp454Cys)
c.1539G>C (p.Trp513Cys)
c.1411+502G>C (n.1411+502G>C)
c.485+18692C>G (n.485+18692C>G)
c.1209G>C (p.Trp403Cys)
c.1524G>C (p.Trp508Cys)
c.1479G>C (p.Trp493Cys)
c.1386G>C (p.Trp462Cys)
9g.36222871C>TCA373426403CLTA,GNEc.1632G>A (p.Trp544Ter)
c.1362G>A (p.Trp454Ter)
c.1539G>A (p.Trp513Ter)
c.1411+502G>A (n.1411+502G>A)
c.485+18692C>T (n.485+18692C>T)
c.1209G>A (p.Trp403Ter)
c.1524G>A (p.Trp508Ter)
c.1479G>A (p.Trp493Ter)
c.1386G>A (p.Trp462Ter)
 ClinVar dbSNP gnomAD v4
9g.36222872C>ACA373426404CLTA,GNEc.1631G>T (p.Trp544Leu)
c.1361G>T (p.Trp454Leu)
c.1538G>T (p.Trp513Leu)
c.1411+501G>T (n.1411+501G>T)
c.485+18693C>A (n.485+18693C>A)
c.1208G>T (p.Trp403Leu)
c.1523G>T (p.Trp508Leu)
c.1478G>T (p.Trp493Leu)
c.1385G>T (p.Trp462Leu)
 ClinVar dbSNP
9g.36222872C>GCA373426406CLTA,GNEc.1631G>C (p.Trp544Ser)
c.1361G>C (p.Trp454Ser)
c.1538G>C (p.Trp513Ser)
c.1411+501G>C (n.1411+501G>C)
c.485+18693C>G (n.485+18693C>G)
c.1208G>C (p.Trp403Ser)
c.1523G>C (p.Trp508Ser)
c.1478G>C (p.Trp493Ser)
c.1385G>C (p.Trp462Ser)
9g.36222872C>TCA373426408CLTA,GNEc.1631G>A (p.Trp544Ter)
c.1361G>A (p.Trp454Ter)
c.1538G>A (p.Trp513Ter)
c.1411+501G>A (n.1411+501G>A)
c.485+18693C>T (n.485+18693C>T)
c.1208G>A (p.Trp403Ter)
c.1523G>A (p.Trp508Ter)
c.1478G>A (p.Trp493Ter)
c.1385G>A (p.Trp462Ter)
9g.36222873A>CCA373426410CLTA,GNEc.1630T>G (p.Trp544Gly)
c.1360T>G (p.Trp454Gly)
c.1537T>G (p.Trp513Gly)
c.1411+500T>G (n.1411+500T>G)
c.485+18694A>C (n.485+18694A>C)
c.1207T>G (p.Trp403Gly)
c.1522T>G (p.Trp508Gly)
c.1477T>G (p.Trp493Gly)
c.1384T>G (p.Trp462Gly)
9g.36222873A>GCA373426411CLTA,GNEc.1630T>C (p.Trp544Arg)
c.1360T>C (p.Trp454Arg)
c.1537T>C (p.Trp513Arg)
c.1411+500T>C (n.1411+500T>C)
c.485+18694A>G (n.485+18694A>G)
c.1207T>C (p.Trp403Arg)
c.1522T>C (p.Trp508Arg)
c.1477T>C (p.Trp493Arg)
c.1384T>C (p.Trp462Arg)
9g.36222873A>TCA373426413CLTA,GNEc.1630T>A (p.Trp544Arg)
c.1360T>A (p.Trp454Arg)
c.1537T>A (p.Trp513Arg)
c.1411+500T>A (n.1411+500T>A)
c.485+18694A>T (n.485+18694A>T)
c.1207T>A (p.Trp403Arg)
c.1522T>A (p.Trp508Arg)
c.1477T>A (p.Trp493Arg)
c.1384T>A (p.Trp462Arg)
9g.36222874C>ACA464495206CLTA,GNEc.1629G>T (p.Val543=)
c.1359G>T (p.Val453=)
c.1536G>T (p.Val512=)
c.1411+499G>T (n.1411+499G>T)
c.485+18695C>A (n.485+18695C>A)
c.1206G>T (p.Val402=)
c.1521G>T (p.Val507=)
c.1476G>T (p.Val492=)
c.1383G>T (p.Val461=)
9g.36222874C>GCA464495204CLTA,GNEc.1629G>C (p.Val543=)
c.1359G>C (p.Val453=)
c.1536G>C (p.Val512=)
c.1411+499G>C (n.1411+499G>C)
c.485+18695C>G (n.485+18695C>G)
c.1206G>C (p.Val402=)
c.1521G>C (p.Val507=)
c.1476G>C (p.Val492=)
c.1383G>C (p.Val461=)
9g.36222874C>TCA464495205CLTA,GNEc.1629G>A (p.Val543=)
c.1359G>A (p.Val453=)
c.1536G>A (p.Val512=)
c.1411+499G>A (n.1411+499G>A)
c.485+18695C>T (n.485+18695C>T)
c.1206G>A (p.Val402=)
c.1521G>A (p.Val507=)
c.1476G>A (p.Val492=)
c.1383G>A (p.Val461=)
 gnomAD v4
9g.36222875A>CCA373426415CLTA,GNEc.1628T>G (p.Val543Gly)
c.1358T>G (p.Val453Gly)
c.1535T>G (p.Val512Gly)
c.1411+498T>G (n.1411+498T>G)
c.485+18696A>C (n.485+18696A>C)
c.1205T>G (p.Val402Gly)
c.1520T>G (p.Val507Gly)
c.1475T>G (p.Val492Gly)
c.1382T>G (p.Val461Gly)
9g.36222875A>GCA373426416CLTA,GNEc.1628T>C (p.Val543Ala)
c.1358T>C (p.Val453Ala)
c.1535T>C (p.Val512Ala)
c.1411+498T>C (n.1411+498T>C)
c.485+18696A>G (n.485+18696A>G)
c.1205T>C (p.Val402Ala)
c.1520T>C (p.Val507Ala)
c.1475T>C (p.Val492Ala)
c.1382T>C (p.Val461Ala)
9g.36222875A>TCA373426418CLTA,GNEc.1628T>A (p.Val543Glu)
c.1358T>A (p.Val453Glu)
c.1535T>A (p.Val512Glu)
c.1411+498T>A (n.1411+498T>A)
c.485+18696A>T (n.485+18696A>T)
c.1205T>A (p.Val402Glu)
c.1520T>A (p.Val507Glu)
c.1475T>A (p.Val492Glu)
c.1382T>A (p.Val461Glu)
9g.36222876C>ACA373426423CLTA,GNEc.1627G>T (p.Val543Leu)
c.1357G>T (p.Val453Leu)
c.1534G>T (p.Val512Leu)
c.1411+497G>T (n.1411+497G>T)
c.485+18697C>A (n.485+18697C>A)
c.1204G>T (p.Val402Leu)
c.1519G>T (p.Val507Leu)
c.1474G>T (p.Val492Leu)
c.1381G>T (p.Val461Leu)
 ClinVar dbSNP gnomAD v4
9g.36222876C=CA1846333449CLTA,GNEc.1627G= (p.Val543=)
c.1357G= (p.Val453=)
c.1534G= (p.Val512=)
c.1411+497G= (n.1411+497G=)
c.485+18697C= (n.485+18697C=)
c.1204G= (p.Val402=)
c.1519G= (p.Val507=)
c.1474G= (p.Val492=)
c.1381G= (p.Val461=)
9g.36222876C>GCA373426425CLTA,GNEc.1627G>C (p.Val543Leu)
c.1357G>C (p.Val453Leu)
c.1534G>C (p.Val512Leu)
c.1411+497G>C (n.1411+497G>C)
c.485+18697C>G (n.485+18697C>G)
c.1204G>C (p.Val402Leu)
c.1519G>C (p.Val507Leu)
c.1474G>C (p.Val492Leu)
c.1381G>C (p.Val461Leu)
9g.36222876C>TCA373426421CLTA,GNEc.1627G>A (p.Val543Met)
c.1357G>A (p.Val453Met)
c.1534G>A (p.Val512Met)
c.1411+497G>A (n.1411+497G>A)
c.485+18697C>T (n.485+18697C>T)
c.1204G>A (p.Val402Met)
c.1519G>A (p.Val507Met)
c.1474G>A (p.Val492Met)
c.1381G>A (p.Val461Met)
 dbSNP gnomAD v4
9g.36222877A=CA1846333461CLTA,GNEc.1626T= (p.Pro542=)
c.1356T= (p.Pro452=)
c.1533T= (p.Pro511=)
c.1411+496T= (n.1411+496T=)
c.485+18698A= (n.485+18698A=)
c.1203T= (p.Pro401=)
c.1518T= (p.Pro506=)
c.1473T= (p.Pro491=)
c.1380T= (p.Pro460=)
9g.36222877A>CCA464495207CLTA,GNEc.1626T>G (p.Pro542=)
c.1356T>G (p.Pro452=)
c.1533T>G (p.Pro511=)
c.1411+496T>G (n.1411+496T>G)
c.485+18698A>C (n.485+18698A>C)
c.1203T>G (p.Pro401=)
c.1518T>G (p.Pro506=)
c.1473T>G (p.Pro491=)
c.1380T>G (p.Pro460=)
9g.36222877A>GCA464495208CLTA,GNEc.1626T>C (p.Pro542=)
c.1356T>C (p.Pro452=)
c.1533T>C (p.Pro511=)
c.1411+496T>C (n.1411+496T>C)
c.485+18698A>G (n.485+18698A>G)
c.1203T>C (p.Pro401=)
c.1518T>C (p.Pro506=)
c.1473T>C (p.Pro491=)
c.1380T>C (p.Pro460=)
9g.36222877A>TCA464495209CLTA,GNEc.1626T>A (p.Pro542=)
c.1356T>A (p.Pro452=)
c.1533T>A (p.Pro511=)
c.1411+496T>A (n.1411+496T>A)
c.485+18698A>T (n.485+18698A>T)
c.1203T>A (p.Pro401=)
c.1518T>A (p.Pro506=)
c.1473T>A (p.Pro491=)
c.1380T>A (p.Pro460=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222877_36222878delCA2579338370CLTA,GNEc.1625_1626del (p.Pro542ArgfsTer6)
c.1355_1356del (p.Pro452ArgfsTer6)
c.1532_1533del (p.Pro511ArgfsTer6)
c.1411+495_1411+496del (n.1411+495_1411+496del)
c.485+18698_485+18699del (n.485+18698_485+18699del)
c.1202_1203del (p.Pro401ArgfsTer6)
c.1517_1518del (p.Pro506ArgfsTer6)
c.1472_1473del (p.Pro491ArgfsTer6)
c.1379_1380del (p.Pro460ArgfsTer6)
 gnomAD v4
9g.36222877_36222878delinsAGCA1846333457CLTA,GNEc.1625_1626delinsCT (p.Pro542=)
c.1355_1356delinsCT (p.Pro452=)
c.1532_1533delinsCT (p.Pro511=)
c.1411+495_1411+496delinsCT (n.1411+495_1411+496delinsCT)
c.485+18698_485+18699delinsAG (n.485+18698_485+18699delinsAG)
c.1202_1203delinsCT (p.Pro401=)
c.1517_1518delinsCT (p.Pro506=)
c.1472_1473delinsCT (p.Pro491=)
c.1379_1380delinsCT (p.Pro460=)
9g.36222877_36222878delinsTTCA1846333458CLTA,GNEc.1625_1626delinsAA (p.Pro542Gln)
c.1355_1356delinsAA (p.Pro452Gln)
c.1532_1533delinsAA (p.Pro511Gln)
c.1411+495_1411+496delinsAA (n.1411+495_1411+496delinsAA)
c.485+18698_485+18699delinsTT (n.485+18698_485+18699delinsTT)
c.1202_1203delinsAA (p.Pro401Gln)
c.1517_1518delinsAA (p.Pro506Gln)
c.1472_1473delinsAA (p.Pro491Gln)
c.1379_1380delinsAA (p.Pro460Gln)
 ClinVar dbSNP
9g.36222878G>ACA373426428CLTA,GNEc.1625C>T (p.Pro542Leu)
c.1355C>T (p.Pro452Leu)
c.1532C>T (p.Pro511Leu)
c.1411+495C>T (n.1411+495C>T)
c.485+18699G>A (n.485+18699G>A)
c.1202C>T (p.Pro401Leu)
c.1517C>T (p.Pro506Leu)
c.1472C>T (p.Pro491Leu)
c.1379C>T (p.Pro460Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222878G>CCA373426430CLTA,GNEc.1625C>G (p.Pro542Arg)
c.1355C>G (p.Pro452Arg)
c.1532C>G (p.Pro511Arg)
c.1411+495C>G (n.1411+495C>G)
c.485+18699G>C (n.485+18699G>C)
c.1202C>G (p.Pro401Arg)
c.1517C>G (p.Pro506Arg)
c.1472C>G (p.Pro491Arg)
c.1379C>G (p.Pro460Arg)
9g.36222878G=CA1846333472CLTA,GNEc.1625C= (p.Pro542=)
c.1355C= (p.Pro452=)
c.1532C= (p.Pro511=)
c.1411+495C= (n.1411+495C=)
c.485+18699G= (n.485+18699G=)
c.1202C= (p.Pro401=)
c.1517C= (p.Pro506=)
c.1472C= (p.Pro491=)
c.1379C= (p.Pro460=)
9g.36222878G>TCA373426432CLTA,GNEc.1625C>A (p.Pro542His)
c.1355C>A (p.Pro452His)
c.1532C>A (p.Pro511His)
c.1411+495C>A (n.1411+495C>A)
c.485+18699G>T (n.485+18699G>T)
c.1202C>A (p.Pro401His)
c.1517C>A (p.Pro506His)
c.1472C>A (p.Pro491His)
c.1379C>A (p.Pro460His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222879G>ACA192843515CLTA,GNEc.1624C>T (p.Pro542Ser)
c.1354C>T (p.Pro452Ser)
c.1531C>T (p.Pro511Ser)
c.1411+494C>T (n.1411+494C>T)
c.485+18700G>A (n.485+18700G>A)
c.1201C>T (p.Pro401Ser)
c.1516C>T (p.Pro506Ser)
c.1471C>T (p.Pro491Ser)
c.1378C>T (p.Pro460Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36222879G>CCA373426437CLTA,GNEc.1624C>G (p.Pro542Ala)
c.1354C>G (p.Pro452Ala)
c.1531C>G (p.Pro511Ala)
c.1411+494C>G (n.1411+494C>G)
c.485+18700G>C (n.485+18700G>C)
c.1201C>G (p.Pro401Ala)
c.1516C>G (p.Pro506Ala)
c.1471C>G (p.Pro491Ala)
c.1378C>G (p.Pro460Ala)
9g.36222879G=CA1846333486CLTA,GNEc.1624C= (p.Pro542=)
c.1354C= (p.Pro452=)
c.1531C= (p.Pro511=)
c.1411+494C= (n.1411+494C=)
c.485+18700G= (n.485+18700G=)
c.1201C= (p.Pro401=)
c.1516C= (p.Pro506=)
c.1471C= (p.Pro491=)
c.1378C= (p.Pro460=)
9g.36222879G>TCA373426438CLTA,GNEc.1624C>A (p.Pro542Thr)
c.1354C>A (p.Pro452Thr)
c.1531C>A (p.Pro511Thr)
c.1411+494C>A (n.1411+494C>A)
c.485+18700G>T (n.485+18700G>T)
c.1201C>A (p.Pro401Thr)
c.1516C>A (p.Pro506Thr)
c.1471C>A (p.Pro491Thr)
c.1378C>A (p.Pro460Thr)
9g.36222880G>ACA464495211CLTA,GNEc.1623C>T (p.Leu541=)
c.1353C>T (p.Leu451=)
c.1530C>T (p.Leu510=)
c.1411+493C>T (n.1411+493C>T)
c.485+18701G>A (n.485+18701G>A)
c.1200C>T (p.Leu400=)
c.1515C>T (p.Leu505=)
c.1470C>T (p.Leu490=)
c.1377C>T (p.Leu459=)
9g.36222880G>CCA464495210CLTA,GNEc.1623C>G (p.Leu541=)
c.1353C>G (p.Leu451=)
c.1530C>G (p.Leu510=)
c.1411+493C>G (n.1411+493C>G)
c.485+18701G>C (n.485+18701G>C)
c.1200C>G (p.Leu400=)
c.1515C>G (p.Leu505=)
c.1470C>G (p.Leu490=)
c.1377C>G (p.Leu459=)
9g.36222880G=CA1846333495CLTA,GNEc.1623C= (p.Leu541=)
c.1353C= (p.Leu451=)
c.1530C= (p.Leu510=)
c.1411+493C= (n.1411+493C=)
c.485+18701G= (n.485+18701G=)
c.1200C= (p.Leu400=)
c.1515C= (p.Leu505=)
c.1470C= (p.Leu490=)
c.1377C= (p.Leu459=)
9g.36222880G>TCA5056469CLTA,GNEc.1623C>A (p.Leu541=)
c.1353C>A (p.Leu451=)
c.1530C>A (p.Leu510=)
c.1411+493C>A (n.1411+493C>A)
c.485+18701G>T (n.485+18701G>T)
c.1200C>A (p.Leu400=)
c.1515C>A (p.Leu505=)
c.1470C>A (p.Leu490=)
c.1377C>A (p.Leu459=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222880_36222883delinsGAGACA1846333497CLTA,GNEc.1620_1623delinsTCTC (p.His540=)
c.1350_1353delinsTCTC (p.His450=)
c.1527_1530delinsTCTC (p.His509=)
c.1411+490_1411+493delinsTCTC (n.1411+490_1411+493delinsTCTC)
c.485+18701_485+18704delinsGAGA (n.485+18701_485+18704delinsGAGA)
c.1197_1200delinsTCTC (p.His399=)
c.1512_1515delinsTCTC (p.His504=)
c.1467_1470delinsTCTC (p.His489=)
c.1374_1377delinsTCTC (p.His458=)
9g.36222880_36222910delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTACA1846333496CLTA,GNEc.1593_1623delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu531=)
c.1323_1353delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu441=)
c.1500_1530delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu500=)
c.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (n.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC)
c.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA)
c.1170_1200delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu390=)
c.1485_1515delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu495=)
c.1440_1470delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu480=)
c.1347_1377delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu449=)
9g.36222881A=CA1846333509CLTA,GNEc.1622T= (p.Leu541=)
c.1352T= (p.Leu451=)
c.1529T= (p.Leu510=)
c.1411+492T= (n.1411+492T=)
c.485+18702A= (n.485+18702A=)
c.1199T= (p.Leu400=)
c.1514T= (p.Leu505=)
c.1469T= (p.Leu490=)
c.1376T= (p.Leu459=)
9g.36222881A>CCA373426442CLTA,GNEc.1622T>G (p.Leu541Arg)
c.1352T>G (p.Leu451Arg)
c.1529T>G (p.Leu510Arg)
c.1411+492T>G (n.1411+492T>G)
c.485+18702A>C (n.485+18702A>C)
c.1199T>G (p.Leu400Arg)
c.1514T>G (p.Leu505Arg)
c.1469T>G (p.Leu490Arg)
c.1376T>G (p.Leu459Arg)
9g.36222881A>GCA373426444CLTA,GNEc.1622T>C (p.Leu541Pro)
c.1352T>C (p.Leu451Pro)
c.1529T>C (p.Leu510Pro)
c.1411+492T>C (n.1411+492T>C)
c.485+18702A>G (n.485+18702A>G)
c.1199T>C (p.Leu400Pro)
c.1514T>C (p.Leu505Pro)
c.1469T>C (p.Leu490Pro)
c.1376T>C (p.Leu459Pro)
9g.36222881A>TCA373426446CLTA,GNEc.1622T>A (p.Leu541His)
c.1352T>A (p.Leu451His)
c.1529T>A (p.Leu510His)
c.1411+492T>A (n.1411+492T>A)
c.485+18702A>T (n.485+18702A>T)
c.1199T>A (p.Leu400His)
c.1514T>A (p.Leu505His)
c.1469T>A (p.Leu490His)
c.1376T>A (p.Leu459His)
9g.36222881_36222883delCA588147071CLTA,GNEc.1620_1622del (p.Leu541del)
c.1350_1352del (p.Leu451del)
c.1527_1529del (p.Leu510del)
c.1411+490_1411+492del (n.1411+490_1411+492del)
c.485+18702_485+18704del (n.485+18702_485+18704del)
c.1197_1199del (p.Leu400del)
c.1512_1514del (p.Leu505del)
c.1467_1469del (p.Leu490del)
c.1374_1376del (p.Leu459del)
 dbSNP gnomAD v2 gnomAD v4
9g.36222881_36222910delinsTCA645369446CLTA,GNEc.1593_1622delinsA (p.Arg532ProfsTer7)
c.1323_1352delinsA (p.Arg442ProfsTer7)
c.1500_1529delinsA (p.Arg501ProfsTer7)
c.1411+463_1411+492delinsA (n.1411+463_1411+492delinsA)
c.485+18702_485+18731delinsT (n.485+18702_485+18731delinsT)
c.1170_1199delinsA (p.Arg391ProfsTer7)
c.1485_1514delinsA (p.Arg496ProfsTer7)
c.1440_1469delinsA (p.Arg481ProfsTer7)
c.1347_1376delinsA (p.Arg450ProfsTer7)
 ClinVar dbSNP
9g.36222882_36222910delCA2573144642CLTA,GNEc.1594_1622del (p.Arg532ProfsTer7)
c.1324_1352del (p.Arg442ProfsTer7)
c.1501_1529del (p.Arg501ProfsTer7)
c.1411+464_1411+492del (n.1411+464_1411+492del)
c.485+18703_485+18731del (n.485+18703_485+18731del)
c.1171_1199del (p.Arg391ProfsTer7)
c.1486_1514del (p.Arg496ProfsTer7)
c.1441_1469del (p.Arg481ProfsTer7)
c.1348_1376del (p.Arg450ProfsTer7)
 ClinVar dbSNP
9g.36222881_36222882insTCA918447924CLTA,GNEc.1621_1622insA (p.Leu541HisfsTer8)
c.1351_1352insA (p.Leu451HisfsTer8)
c.1528_1529insA (p.Leu510HisfsTer8)
c.1411+491_1411+492insA (n.1411+491_1411+492insA)
c.485+18702_485+18703insT (n.485+18702_485+18703insT)
c.1198_1199insA (p.Leu400HisfsTer8)
c.1513_1514insA (p.Leu505HisfsTer8)
c.1468_1469insA (p.Leu490HisfsTer8)
c.1375_1376insA (p.Leu459HisfsTer8)
 dbSNP
9g.36222882G>ACA373426448CLTA,GNEc.1621C>T (p.Leu541Phe)
c.1351C>T (p.Leu451Phe)
c.1528C>T (p.Leu510Phe)
c.1411+491C>T (n.1411+491C>T)
c.485+18703G>A (n.485+18703G>A)
c.1198C>T (p.Leu400Phe)
c.1513C>T (p.Leu505Phe)
c.1468C>T (p.Leu490Phe)
c.1375C>T (p.Leu459Phe)
9g.36222882G>CCA373426451CLTA,GNEc.1621C>G (p.Leu541Val)
c.1351C>G (p.Leu451Val)
c.1528C>G (p.Leu510Val)
c.1411+491C>G (n.1411+491C>G)
c.485+18703G>C (n.485+18703G>C)
c.1198C>G (p.Leu400Val)
c.1513C>G (p.Leu505Val)
c.1468C>G (p.Leu490Val)
c.1375C>G (p.Leu459Val)
9g.36222882G>TCA373426452CLTA,GNEc.1621C>A (p.Leu541Ile)
c.1351C>A (p.Leu451Ile)
c.1528C>A (p.Leu510Ile)
c.1411+491C>A (n.1411+491C>A)
c.485+18703G>T (n.485+18703G>T)
c.1198C>A (p.Leu400Ile)
c.1513C>A (p.Leu505Ile)
c.1468C>A (p.Leu490Ile)
c.1375C>A (p.Leu459Ile)
9g.36222883A>CCA373426455CLTA,GNEc.1620T>G (p.His540Gln)
c.1350T>G (p.His450Gln)
c.1527T>G (p.His509Gln)
c.1411+490T>G (n.1411+490T>G)
c.485+18704A>C (n.485+18704A>C)
c.1197T>G (p.His399Gln)
c.1512T>G (p.His504Gln)
c.1467T>G (p.His489Gln)
c.1374T>G (p.His458Gln)
9g.36222883A>GCA464495212CLTA,GNEc.1620T>C (p.His540=)
c.1350T>C (p.His450=)
c.1527T>C (p.His509=)
c.1411+490T>C (n.1411+490T>C)
c.485+18704A>G (n.485+18704A>G)
c.1197T>C (p.His399=)
c.1512T>C (p.His504=)
c.1467T>C (p.His489=)
c.1374T>C (p.His458=)
9g.36222883A>TCA373426453CLTA,GNEc.1620T>A (p.His540Gln)
c.1350T>A (p.His450Gln)
c.1527T>A (p.His509Gln)
c.1411+490T>A (n.1411+490T>A)
c.485+18704A>T (n.485+18704A>T)
c.1197T>A (p.His399Gln)
c.1512T>A (p.His504Gln)
c.1467T>A (p.His489Gln)
c.1374T>A (p.His458Gln)
9g.36222884T>ACA373426457CLTA,GNEc.1619A>T (p.His540Leu)
c.1349A>T (p.His450Leu)
c.1526A>T (p.His509Leu)
c.1411+489A>T (n.1411+489A>T)
c.485+18705T>A (n.485+18705T>A)
c.1196A>T (p.His399Leu)
c.1511A>T (p.His504Leu)
c.1466A>T (p.His489Leu)
c.1373A>T (p.His458Leu)
9g.36222884T>CCA5056470CLTA,GNEc.1619A>G (p.His540Arg)
c.1349A>G (p.His450Arg)
c.1526A>G (p.His509Arg)
c.1411+489A>G (n.1411+489A>G)
c.485+18705T>C (n.485+18705T>C)
c.1196A>G (p.His399Arg)
c.1511A>G (p.His504Arg)
c.1466A>G (p.His489Arg)
c.1373A>G (p.His458Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222884T>GCA373426459CLTA,GNEc.1619A>C (p.His540Pro)
c.1349A>C (p.His450Pro)
c.1526A>C (p.His509Pro)
c.1411+489A>C (n.1411+489A>C)
c.485+18705T>G (n.485+18705T>G)
c.1196A>C (p.His399Pro)
c.1511A>C (p.His504Pro)
c.1466A>C (p.His489Pro)
c.1373A>C (p.His458Pro)
 ClinVar dbSNP
9g.36222884T=CA1846333518CLTA,GNEc.1619A= (p.His540=)
c.1349A= (p.His450=)
c.1526A= (p.His509=)
c.1411+489A= (n.1411+489A=)
c.485+18705T= (n.485+18705T=)
c.1196A= (p.His399=)
c.1511A= (p.His504=)
c.1466A= (p.His489=)
c.1373A= (p.His458=)
9g.36222884_36222910delinsTGCAAAGTGTCAGAAAGGGGGGTCCTACA1846333519CLTA,GNEc.1593_1619delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu531=)
c.1323_1349delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu441=)
c.1500_1526delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu500=)
c.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA (n.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA)
c.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA)
c.1170_1196delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu390=)
c.1485_1511delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu495=)
c.1440_1466delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu480=)
c.1347_1373delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu449=)
9g.36222885G>ACA5056471CLTA,GNEc.1618C>T (p.His540Tyr)
c.1348C>T (p.His450Tyr)
c.1525C>T (p.His509Tyr)
c.1411+488C>T (n.1411+488C>T)
c.485+18706G>A (n.485+18706G>A)
c.1195C>T (p.His399Tyr)
c.1510C>T (p.His504Tyr)
c.1465C>T (p.His489Tyr)
c.1372C>T (p.His458Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222885G>CCA373426464CLTA,GNEc.1618C>G (p.His540Asp)
c.1348C>G (p.His450Asp)
c.1525C>G (p.His509Asp)
c.1411+488C>G (n.1411+488C>G)
c.485+18706G>C (n.485+18706G>C)
c.1195C>G (p.His399Asp)
c.1510C>G (p.His504Asp)
c.1465C>G (p.His489Asp)
c.1372C>G (p.His458Asp)
9g.36222885G=CA1846333536CLTA,GNEc.1618C= (p.His540=)
c.1348C= (p.His450=)
c.1525C= (p.His509=)
c.1411+488C= (n.1411+488C=)
c.485+18706G= (n.485+18706G=)
c.1195C= (p.His399=)
c.1510C= (p.His504=)
c.1465C= (p.His489=)
c.1372C= (p.His458=)
9g.36222885G>TCA373426466CLTA,GNEc.1618C>A (p.His540Asn)
c.1348C>A (p.His450Asn)
c.1525C>A (p.His509Asn)
c.1411+488C>A (n.1411+488C>A)
c.485+18706G>T (n.485+18706G>T)
c.1195C>A (p.His399Asn)
c.1510C>A (p.His504Asn)
c.1465C>A (p.His489Asn)
c.1372C>A (p.His458Asn)
9g.36222885_36222910delCA588147072CLTA,GNEc.1593_1618del (p.Arg532SerfsTer8)
c.1323_1348del (p.Arg442SerfsTer8)
c.1500_1525del (p.Arg501SerfsTer8)
c.1411+463_1411+488del (n.1411+463_1411+488del)
c.485+18706_485+18731del (n.485+18706_485+18731del)
c.1170_1195del (p.Arg391SerfsTer8)
c.1485_1510del (p.Arg496SerfsTer8)
c.1440_1465del (p.Arg481SerfsTer8)
c.1347_1372del (p.Arg450SerfsTer8)
 dbSNP gnomAD v2 gnomAD v4
9g.36222886C>ACA192843543CLTA,GNEc.1617G>T (p.Leu539Phe)
c.1347G>T (p.Leu449Phe)
c.1524G>T (p.Leu508Phe)
c.1411+487G>T (n.1411+487G>T)
c.485+18707C>A (n.485+18707C>A)
c.1194G>T (p.Leu398Phe)
c.1509G>T (p.Leu503Phe)
c.1464G>T (p.Leu488Phe)
c.1371G>T (p.Leu457Phe)
 dbSNP
9g.36222886C=CA1846333540CLTA,GNEc.1617G= (p.Leu539=)
c.1347G= (p.Leu449=)
c.1524G= (p.Leu508=)
c.1411+487G= (n.1411+487G=)
c.485+18707C= (n.485+18707C=)
c.1194G= (p.Leu398=)
c.1509G= (p.Leu503=)
c.1464G= (p.Leu488=)
c.1371G= (p.Leu457=)
9g.36222886C>GCA373426469CLTA,GNEc.1617G>C (p.Leu539Phe)
c.1347G>C (p.Leu449Phe)
c.1524G>C (p.Leu508Phe)
c.1411+487G>C (n.1411+487G>C)
c.485+18707C>G (n.485+18707C>G)
c.1194G>C (p.Leu398Phe)
c.1509G>C (p.Leu503Phe)
c.1464G>C (p.Leu488Phe)
c.1371G>C (p.Leu457Phe)
9g.36222886C>TCA464495213CLTA,GNEc.1617G>A (p.Leu539=)
c.1347G>A (p.Leu449=)
c.1524G>A (p.Leu508=)
c.1411+487G>A (n.1411+487G>A)
c.485+18707C>T (n.485+18707C>T)
c.1194G>A (p.Leu398=)
c.1509G>A (p.Leu503=)
c.1464G>A (p.Leu488=)
c.1371G>A (p.Leu457=)
9g.36222887A=CA1846333545CLTA,GNEc.1616T= (p.Leu539=)
c.1346T= (p.Leu449=)
c.1523T= (p.Leu508=)
c.1411+486T= (n.1411+486T=)
c.485+18708A= (n.485+18708A=)
c.1193T= (p.Leu398=)
c.1508T= (p.Leu503=)
c.1463T= (p.Leu488=)
c.1370T= (p.Leu457=)
9g.36222887A>CCA373426471CLTA,GNEc.1616T>G (p.Leu539Trp)
c.1346T>G (p.Leu449Trp)
c.1523T>G (p.Leu508Trp)
c.1411+486T>G (n.1411+486T>G)
c.485+18708A>C (n.485+18708A>C)
c.1193T>G (p.Leu398Trp)
c.1508T>G (p.Leu503Trp)
c.1463T>G (p.Leu488Trp)
c.1370T>G (p.Leu457Trp)
9g.36222887A>GCA16041312CLTA,GNEc.1616T>C (p.Leu539Ser)
c.1346T>C (p.Leu449Ser)
c.1523T>C (p.Leu508Ser)
c.1411+486T>C (n.1411+486T>C)
c.485+18708A>G (n.485+18708A>G)
c.1193T>C (p.Leu398Ser)
c.1508T>C (p.Leu503Ser)
c.1463T>C (p.Leu488Ser)
c.1370T>C (p.Leu457Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222887A>TCA373426475CLTA,GNEc.1616T>A (p.Leu539Ter)
c.1346T>A (p.Leu449Ter)
c.1523T>A (p.Leu508Ter)
c.1411+486T>A (n.1411+486T>A)
c.485+18708A>T (n.485+18708A>T)
c.1193T>A (p.Leu398Ter)
c.1508T>A (p.Leu503Ter)
c.1463T>A (p.Leu488Ter)
c.1370T>A (p.Leu457Ter)
9g.36222888A>CCA373426476CLTA,GNEc.1615T>G (p.Leu539Val)
c.1345T>G (p.Leu449Val)
c.1522T>G (p.Leu508Val)
c.1411+485T>G (n.1411+485T>G)
c.485+18709A>C (n.485+18709A>C)
c.1192T>G (p.Leu398Val)
c.1507T>G (p.Leu503Val)
c.1462T>G (p.Leu488Val)
c.1369T>G (p.Leu457Val)
9g.36222888A>GCA464495214CLTA,GNEc.1615T>C (p.Leu539=)
c.1345T>C (p.Leu449=)
c.1522T>C (p.Leu508=)
c.1411+485T>C (n.1411+485T>C)
c.485+18709A>G (n.485+18709A>G)
c.1192T>C (p.Leu398=)
c.1507T>C (p.Leu503=)
c.1462T>C (p.Leu488=)
c.1369T>C (p.Leu457=)
 ClinVar dbSNP
9g.36222888A>TCA373426479CLTA,GNEc.1615T>A (p.Leu539Met)
c.1345T>A (p.Leu449Met)
c.1522T>A (p.Leu508Met)
c.1411+485T>A (n.1411+485T>A)
c.485+18709A>T (n.485+18709A>T)
c.1192T>A (p.Leu398Met)
c.1507T>A (p.Leu503Met)
c.1462T>A (p.Leu488Met)
c.1369T>A (p.Leu457Met)
9g.36222889A>CCA464495215CLTA,GNEc.1614T>G (p.Thr538=)
c.1344T>G (p.Thr448=)
c.1521T>G (p.Thr507=)
c.1411+484T>G (n.1411+484T>G)
c.485+18710A>C (n.485+18710A>C)
c.1191T>G (p.Thr397=)
c.1506T>G (p.Thr502=)
c.1461T>G (p.Thr487=)
c.1368T>G (p.Thr456=)
9g.36222889A>GCA464495216CLTA,GNEc.1614T>C (p.Thr538=)
c.1344T>C (p.Thr448=)
c.1521T>C (p.Thr507=)
c.1411+484T>C (n.1411+484T>C)
c.485+18710A>G (n.485+18710A>G)
c.1191T>C (p.Thr397=)
c.1506T>C (p.Thr502=)
c.1461T>C (p.Thr487=)
c.1368T>C (p.Thr456=)
9g.36222889A>TCA464495217CLTA,GNEc.1614T>A (p.Thr538=)
c.1344T>A (p.Thr448=)
c.1521T>A (p.Thr507=)
c.1411+484T>A (n.1411+484T>A)
c.485+18710A>T (n.485+18710A>T)
c.1191T>A (p.Thr397=)
c.1506T>A (p.Thr502=)
c.1461T>A (p.Thr487=)
c.1368T>A (p.Thr456=)
9g.36222890G>ACA5056472CLTA,GNEc.1613C>T (p.Thr538Ile)
c.1343C>T (p.Thr448Ile)
c.1520C>T (p.Thr507Ile)
c.1411+483C>T (n.1411+483C>T)
c.485+18711G>A (n.485+18711G>A)
c.1190C>T (p.Thr397Ile)
c.1505C>T (p.Thr502Ile)
c.1460C>T (p.Thr487Ile)
c.1367C>T (p.Thr456Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222890G>CCA373426483CLTA,GNEc.1613C>G (p.Thr538Ser)
c.1343C>G (p.Thr448Ser)
c.1520C>G (p.Thr507Ser)
c.1411+483C>G (n.1411+483C>G)
c.485+18711G>C (n.485+18711G>C)
c.1190C>G (p.Thr397Ser)
c.1505C>G (p.Thr502Ser)
c.1460C>G (p.Thr487Ser)
c.1367C>G (p.Thr456Ser)
9g.36222890G=CA1846333552CLTA,GNEc.1613C= (p.Thr538=)
c.1343C= (p.Thr448=)
c.1520C= (p.Thr507=)
c.1411+483C= (n.1411+483C=)
c.485+18711G= (n.485+18711G=)
c.1190C= (p.Thr397=)
c.1505C= (p.Thr502=)
c.1460C= (p.Thr487=)
c.1367C= (p.Thr456=)
9g.36222890G>TCA373426481CLTA,GNEc.1613C>A (p.Thr538Asn)
c.1343C>A (p.Thr448Asn)
c.1520C>A (p.Thr507Asn)
c.1411+483C>A (n.1411+483C>A)
c.485+18711G>T (n.485+18711G>T)
c.1190C>A (p.Thr397Asn)
c.1505C>A (p.Thr502Asn)
c.1460C>A (p.Thr487Asn)
c.1367C>A (p.Thr456Asn)
9g.36222891T>ACA373426486CLTA,GNEc.1612A>T (p.Thr538Ser)
c.1342A>T (p.Thr448Ser)
c.1519A>T (p.Thr507Ser)
c.1411+482A>T (n.1411+482A>T)
c.485+18712T>A (n.485+18712T>A)
c.1189A>T (p.Thr397Ser)
c.1504A>T (p.Thr502Ser)
c.1459A>T (p.Thr487Ser)
c.1366A>T (p.Thr456Ser)
9g.36222891T>CCA373426489CLTA,GNEc.1612A>G (p.Thr538Ala)
c.1342A>G (p.Thr448Ala)
c.1519A>G (p.Thr507Ala)
c.1411+482A>G (n.1411+482A>G)
c.485+18712T>C (n.485+18712T>C)
c.1189A>G (p.Thr397Ala)
c.1504A>G (p.Thr502Ala)
c.1459A>G (p.Thr487Ala)
c.1366A>G (p.Thr456Ala)
9g.36222891T>GCA373426488CLTA,GNEc.1612A>C (p.Thr538Pro)
c.1342A>C (p.Thr448Pro)
c.1519A>C (p.Thr507Pro)
c.1411+482A>C (n.1411+482A>C)
c.485+18712T>G (n.485+18712T>G)
c.1189A>C (p.Thr397Pro)
c.1504A>C (p.Thr502Pro)
c.1459A>C (p.Thr487Pro)
c.1366A>C (p.Thr456Pro)
9g.36222892G>ACA464495218CLTA,GNEc.1611C>T (p.Asp537=)
c.1341C>T (p.Asp447=)
c.1518C>T (p.Asp506=)
c.1411+481C>T (n.1411+481C>T)
c.485+18713G>A (n.485+18713G>A)
c.1188C>T (p.Asp396=)
c.1503C>T (p.Asp501=)
c.1458C>T (p.Asp486=)
c.1365C>T (p.Asp455=)
9g.36222892G>CCA373426490CLTA,GNEc.1611C>G (p.Asp537Glu)
c.1341C>G (p.Asp447Glu)
c.1518C>G (p.Asp506Glu)
c.1411+481C>G (n.1411+481C>G)
c.485+18713G>C (n.485+18713G>C)
c.1188C>G (p.Asp396Glu)
c.1503C>G (p.Asp501Glu)
c.1458C>G (p.Asp486Glu)
c.1365C>G (p.Asp455Glu)
9g.36222892G>TCA373426492CLTA,GNEc.1611C>A (p.Asp537Glu)
c.1341C>A (p.Asp447Glu)
c.1518C>A (p.Asp506Glu)
c.1411+481C>A (n.1411+481C>A)
c.485+18713G>T (n.485+18713G>T)
c.1188C>A (p.Asp396Glu)
c.1503C>A (p.Asp501Glu)
c.1458C>A (p.Asp486Glu)
c.1365C>A (p.Asp455Glu)
9g.36222893T>ACA373426494CLTA,GNEc.1610A>T (p.Asp537Val)
c.1340A>T (p.Asp447Val)
c.1517A>T (p.Asp506Val)
c.1411+480A>T (n.1411+480A>T)
c.485+18714T>A (n.485+18714T>A)
c.1187A>T (p.Asp396Val)
c.1502A>T (p.Asp501Val)
c.1457A>T (p.Asp486Val)
c.1364A>T (p.Asp455Val)
9g.36222893T>CCA373426495CLTA,GNEc.1610A>G (p.Asp537Gly)
c.1340A>G (p.Asp447Gly)
c.1517A>G (p.Asp506Gly)
c.1411+480A>G (n.1411+480A>G)
c.485+18714T>C (n.485+18714T>C)
c.1187A>G (p.Asp396Gly)
c.1502A>G (p.Asp501Gly)
c.1457A>G (p.Asp486Gly)
c.1364A>G (p.Asp455Gly)
9g.36222893T>GCA373426496CLTA,GNEc.1610A>C (p.Asp537Ala)
c.1340A>C (p.Asp447Ala)
c.1517A>C (p.Asp506Ala)
c.1411+480A>C (n.1411+480A>C)
c.485+18714T>G (n.485+18714T>G)
c.1187A>C (p.Asp396Ala)
c.1502A>C (p.Asp501Ala)
c.1457A>C (p.Asp486Ala)
c.1364A>C (p.Asp455Ala)
9g.36222894C>ACA373426499CLTA,GNEc.1609G>T (p.Asp537Tyr)
c.1339G>T (p.Asp447Tyr)
c.1516G>T (p.Asp506Tyr)
c.1411+479G>T (n.1411+479G>T)
c.485+18715C>A (n.485+18715C>A)
c.1186G>T (p.Asp396Tyr)
c.1501G>T (p.Asp501Tyr)
c.1456G>T (p.Asp486Tyr)
c.1363G>T (p.Asp455Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36222894C=CA1846333557CLTA,GNEc.1609G= (p.Asp537=)
c.1339G= (p.Asp447=)
c.1516G= (p.Asp506=)
c.1411+479G= (n.1411+479G=)
c.485+18715C= (n.485+18715C=)
c.1186G= (p.Asp396=)
c.1501G= (p.Asp501=)
c.1456G= (p.Asp486=)
c.1363G= (p.Asp455=)
9g.36222894C>GCA373426501CLTA,GNEc.1609G>C (p.Asp537His)
c.1339G>C (p.Asp447His)
c.1516G>C (p.Asp506His)
c.1411+479G>C (n.1411+479G>C)
c.485+18715C>G (n.485+18715C>G)
c.1186G>C (p.Asp396His)
c.1501G>C (p.Asp501His)
c.1456G>C (p.Asp486His)
c.1363G>C (p.Asp455His)
9g.36222894C>TCA373426503CLTA,GNEc.1609G>A (p.Asp537Asn)
c.1339G>A (p.Asp447Asn)
c.1516G>A (p.Asp506Asn)
c.1411+479G>A (n.1411+479G>A)
c.485+18715C>T (n.485+18715C>T)
c.1186G>A (p.Asp396Asn)
c.1501G>A (p.Asp501Asn)
c.1456G>A (p.Asp486Asn)
c.1363G>A (p.Asp455Asn)
9g.36222895A>CCA464495219CLTA,GNEc.1608T>G (p.Ser536=)
c.1338T>G (p.Ser446=)
c.1515T>G (p.Ser505=)
c.1411+478T>G (n.1411+478T>G)
c.485+18716A>C (n.485+18716A>C)
c.1185T>G (p.Ser395=)
c.1500T>G (p.Ser500=)
c.1455T>G (p.Ser485=)
c.1362T>G (p.Ser454=)
9g.36222895A>GCA464495220CLTA,GNEc.1608T>C (p.Ser536=)
c.1338T>C (p.Ser446=)
c.1515T>C (p.Ser505=)
c.1411+478T>C (n.1411+478T>C)
c.485+18716A>G (n.485+18716A>G)
c.1185T>C (p.Ser395=)
c.1500T>C (p.Ser500=)
c.1455T>C (p.Ser485=)
c.1362T>C (p.Ser454=)
9g.36222895A>TCA464495221CLTA,GNEc.1608T>A (p.Ser536=)
c.1338T>A (p.Ser446=)
c.1515T>A (p.Ser505=)
c.1411+478T>A (n.1411+478T>A)
c.485+18716A>T (n.485+18716A>T)
c.1185T>A (p.Ser395=)
c.1500T>A (p.Ser500=)
c.1455T>A (p.Ser485=)
c.1362T>A (p.Ser454=)
9g.36222896G>ACA373426504CLTA,GNEc.1607C>T (p.Ser536Phe)
c.1337C>T (p.Ser446Phe)
c.1514C>T (p.Ser505Phe)
c.1411+477C>T (n.1411+477C>T)
c.485+18717G>A (n.485+18717G>A)
c.1184C>T (p.Ser395Phe)
c.1499C>T (p.Ser500Phe)
c.1454C>T (p.Ser485Phe)
c.1361C>T (p.Ser454Phe)
 COSMIC COSMIC COSMIC
9g.36222896G>CCA373426507CLTA,GNEc.1607C>G (p.Ser536Cys)
c.1337C>G (p.Ser446Cys)
c.1514C>G (p.Ser505Cys)
c.1411+477C>G (n.1411+477C>G)
c.485+18717G>C (n.485+18717G>C)
c.1184C>G (p.Ser395Cys)
c.1499C>G (p.Ser500Cys)
c.1454C>G (p.Ser485Cys)
c.1361C>G (p.Ser454Cys)
9g.36222896G>TCA373426508CLTA,GNEc.1607C>A (p.Ser536Tyr)
c.1337C>A (p.Ser446Tyr)
c.1514C>A (p.Ser505Tyr)
c.1411+477C>A (n.1411+477C>A)
c.485+18717G>T (n.485+18717G>T)
c.1184C>A (p.Ser395Tyr)
c.1499C>A (p.Ser500Tyr)
c.1454C>A (p.Ser485Tyr)
c.1361C>A (p.Ser454Tyr)
9g.36222897A>CCA373426511CLTA,GNEc.1606T>G (p.Ser536Ala)
c.1336T>G (p.Ser446Ala)
c.1513T>G (p.Ser505Ala)
c.1411+476T>G (n.1411+476T>G)
c.485+18718A>C (n.485+18718A>C)
c.1183T>G (p.Ser395Ala)
c.1498T>G (p.Ser500Ala)
c.1453T>G (p.Ser485Ala)
c.1360T>G (p.Ser454Ala)
9g.36222897A>GCA373426513CLTA,GNEc.1606T>C (p.Ser536Pro)
c.1336T>C (p.Ser446Pro)
c.1513T>C (p.Ser505Pro)
c.1411+476T>C (n.1411+476T>C)
c.485+18718A>G (n.485+18718A>G)
c.1183T>C (p.Ser395Pro)
c.1498T>C (p.Ser500Pro)
c.1453T>C (p.Ser485Pro)
c.1360T>C (p.Ser454Pro)
9g.36222897A>TCA373426515CLTA,GNEc.1606T>A (p.Ser536Thr)
c.1336T>A (p.Ser446Thr)
c.1513T>A (p.Ser505Thr)
c.1411+476T>A (n.1411+476T>A)
c.485+18718A>T (n.485+18718A>T)
c.1183T>A (p.Ser395Thr)
c.1498T>A (p.Ser500Thr)
c.1453T>A (p.Ser485Thr)
c.1360T>A (p.Ser454Thr)

Number of alleles fetched