Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
9g.36222898A>CCA464495222CLTA,GNEc.1605T>G (p.Leu535=)
c.1335T>G (p.Leu445=)
c.1512T>G (p.Leu504=)
c.1411+475T>G (n.1411+475T>G)
c.485+18719A>C (n.485+18719A>C)
c.1182T>G (p.Leu394=)
c.1497T>G (p.Leu499=)
c.1452T>G (p.Leu484=)
c.1359T>G (p.Leu453=)
9g.36222898A>GCA464495223CLTA,GNEc.1605T>C (p.Leu535=)
c.1335T>C (p.Leu445=)
c.1512T>C (p.Leu504=)
c.1411+475T>C (n.1411+475T>C)
c.485+18719A>G (n.485+18719A>G)
c.1182T>C (p.Leu394=)
c.1497T>C (p.Leu499=)
c.1452T>C (p.Leu484=)
c.1359T>C (p.Leu453=)
 gnomAD v4
9g.36222898A>TCA464495224CLTA,GNEc.1605T>A (p.Leu535=)
c.1335T>A (p.Leu445=)
c.1512T>A (p.Leu504=)
c.1411+475T>A (n.1411+475T>A)
c.485+18719A>T (n.485+18719A>T)
c.1182T>A (p.Leu394=)
c.1497T>A (p.Leu499=)
c.1452T>A (p.Leu484=)
c.1359T>A (p.Leu453=)
9g.36222899A=CA1846333562CLTA,GNEc.1604T= (p.Leu535=)
c.1334T= (p.Leu445=)
c.1511T= (p.Leu504=)
c.1411+474T= (n.1411+474T=)
c.485+18720A= (n.485+18720A=)
c.1181T= (p.Leu394=)
c.1496T= (p.Leu499=)
c.1451T= (p.Leu484=)
c.1358T= (p.Leu453=)
9g.36222899A>CCA373426517CLTA,GNEc.1604T>G (p.Leu535Arg)
c.1334T>G (p.Leu445Arg)
c.1511T>G (p.Leu504Arg)
c.1411+474T>G (n.1411+474T>G)
c.485+18720A>C (n.485+18720A>C)
c.1181T>G (p.Leu394Arg)
c.1496T>G (p.Leu499Arg)
c.1451T>G (p.Leu484Arg)
c.1358T>G (p.Leu453Arg)
 gnomAD v4
9g.36222899A>GCA373426521CLTA,GNEc.1604T>C (p.Leu535Pro)
c.1334T>C (p.Leu445Pro)
c.1511T>C (p.Leu504Pro)
c.1411+474T>C (n.1411+474T>C)
c.485+18720A>G (n.485+18720A>G)
c.1181T>C (p.Leu394Pro)
c.1496T>C (p.Leu499Pro)
c.1451T>C (p.Leu484Pro)
c.1358T>C (p.Leu453Pro)
9g.36222899A>TCA373426519CLTA,GNEc.1604T>A (p.Leu535His)
c.1334T>A (p.Leu445His)
c.1511T>A (p.Leu504His)
c.1411+474T>A (n.1411+474T>A)
c.485+18720A>T (n.485+18720A>T)
c.1181T>A (p.Leu394His)
c.1496T>A (p.Leu499His)
c.1451T>A (p.Leu484His)
c.1358T>A (p.Leu453His)
9g.36222900G>ACA5056473CLTA,GNEc.1603C>T (p.Leu535Phe)
c.1333C>T (p.Leu445Phe)
c.1510C>T (p.Leu504Phe)
c.1411+473C>T (n.1411+473C>T)
c.485+18721G>A (n.485+18721G>A)
c.1180C>T (p.Leu394Phe)
c.1495C>T (p.Leu499Phe)
c.1450C>T (p.Leu484Phe)
c.1357C>T (p.Leu453Phe)
 ClinVar dbSNP ExAC gnomAD v4
9g.36222900G>CCA373426529CLTA,GNEc.1603C>G (p.Leu535Val)
c.1333C>G (p.Leu445Val)
c.1510C>G (p.Leu504Val)
c.1411+473C>G (n.1411+473C>G)
c.485+18721G>C (n.485+18721G>C)
c.1180C>G (p.Leu394Val)
c.1495C>G (p.Leu499Val)
c.1450C>G (p.Leu484Val)
c.1357C>G (p.Leu453Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222900G=CA1846333571CLTA,GNEc.1603C= (p.Leu535=)
c.1333C= (p.Leu445=)
c.1510C= (p.Leu504=)
c.1411+473C= (n.1411+473C=)
c.485+18721G= (n.485+18721G=)
c.1180C= (p.Leu394=)
c.1495C= (p.Leu499=)
c.1450C= (p.Leu484=)
c.1357C= (p.Leu453=)
9g.36222900G>TCA373426531CLTA,GNEc.1603C>A (p.Leu535Ile)
c.1333C>A (p.Leu445Ile)
c.1510C>A (p.Leu504Ile)
c.1411+473C>A (n.1411+473C>A)
c.485+18721G>T (n.485+18721G>T)
c.1180C>A (p.Leu394Ile)
c.1495C>A (p.Leu499Ile)
c.1450C>A (p.Leu484Ile)
c.1357C>A (p.Leu453Ile)
 gnomAD v4
9g.36222905dupCA1139660952CLTA,GNEc.1603dup (p.Leu535ProfsTer3)
c.1333dup (p.Leu445ProfsTer3)
c.1510dup (p.Leu504ProfsTer3)
c.1411+473dup (n.1411+473dup)
c.485+18726dup (n.485+18726dup)
c.1180dup (p.Leu394ProfsTer3)
c.1495dup (p.Leu499ProfsTer3)
c.1450dup (p.Leu484ProfsTer3)
c.1357dup (p.Leu453ProfsTer3)
 ClinVar dbSNP gnomAD v4
9g.36222901G>ACA464495225CLTA,GNEc.1602C>T (p.Pro534=)
c.1332C>T (p.Pro444=)
c.1509C>T (p.Pro503=)
c.1411+472C>T (n.1411+472C>T)
c.485+18722G>A (n.485+18722G>A)
c.1179C>T (p.Pro393=)
c.1494C>T (p.Pro498=)
c.1449C>T (p.Pro483=)
c.1356C>T (p.Pro452=)
 gnomAD v4
9g.36222901G>CCA5056474CLTA,GNEc.1602C>G (p.Pro534=)
c.1332C>G (p.Pro444=)
c.1509C>G (p.Pro503=)
c.1411+472C>G (n.1411+472C>G)
c.485+18722G>C (n.485+18722G>C)
c.1179C>G (p.Pro393=)
c.1494C>G (p.Pro498=)
c.1449C>G (p.Pro483=)
c.1356C>G (p.Pro452=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222901G=CA1846333591CLTA,GNEc.1602C= (p.Pro534=)
c.1332C= (p.Pro444=)
c.1509C= (p.Pro503=)
c.1411+472C= (n.1411+472C=)
c.485+18722G= (n.485+18722G=)
c.1179C= (p.Pro393=)
c.1494C= (p.Pro498=)
c.1449C= (p.Pro483=)
c.1356C= (p.Pro452=)
9g.36222901G>TCA464495226CLTA,GNEc.1602C>A (p.Pro534=)
c.1332C>A (p.Pro444=)
c.1509C>A (p.Pro503=)
c.1411+472C>A (n.1411+472C>A)
c.485+18722G>T (n.485+18722G>T)
c.1179C>A (p.Pro393=)
c.1494C>A (p.Pro498=)
c.1449C>A (p.Pro483=)
c.1356C>A (p.Pro452=)
 ClinVar dbSNP gnomAD v4
9g.36222902G>ACA373426541CLTA,GNEc.1601C>T (p.Pro534Leu)
c.1331C>T (p.Pro444Leu)
c.1508C>T (p.Pro503Leu)
c.1411+471C>T (n.1411+471C>T)
c.485+18723G>A (n.485+18723G>A)
c.1178C>T (p.Pro393Leu)
c.1493C>T (p.Pro498Leu)
c.1448C>T (p.Pro483Leu)
c.1355C>T (p.Pro452Leu)
9g.36222902G>CCA5056475CLTA,GNEc.1601C>G (p.Pro534Arg)
c.1331C>G (p.Pro444Arg)
c.1508C>G (p.Pro503Arg)
c.1411+471C>G (n.1411+471C>G)
c.485+18723G>C (n.485+18723G>C)
c.1178C>G (p.Pro393Arg)
c.1493C>G (p.Pro498Arg)
c.1448C>G (p.Pro483Arg)
c.1355C>G (p.Pro452Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222902G=CA1846333613CLTA,GNEc.1601C= (p.Pro534=)
c.1331C= (p.Pro444=)
c.1508C= (p.Pro503=)
c.1411+471C= (n.1411+471C=)
c.485+18723G= (n.485+18723G=)
c.1178C= (p.Pro393=)
c.1493C= (p.Pro498=)
c.1448C= (p.Pro483=)
c.1355C= (p.Pro452=)
9g.36222902G>TCA373426544CLTA,GNEc.1601C>A (p.Pro534His)
c.1331C>A (p.Pro444His)
c.1508C>A (p.Pro503His)
c.1411+471C>A (n.1411+471C>A)
c.485+18723G>T (n.485+18723G>T)
c.1178C>A (p.Pro393His)
c.1493C>A (p.Pro498His)
c.1448C>A (p.Pro483His)
c.1355C>A (p.Pro452His)
9g.36222903G>ACA373426546CLTA,GNEc.1600C>T (p.Pro534Ser)
c.1330C>T (p.Pro444Ser)
c.1507C>T (p.Pro503Ser)
c.1411+470C>T (n.1411+470C>T)
c.485+18724G>A (n.485+18724G>A)
c.1177C>T (p.Pro393Ser)
c.1492C>T (p.Pro498Ser)
c.1447C>T (p.Pro483Ser)
c.1354C>T (p.Pro452Ser)
 COSMIC COSMIC COSMIC
9g.36222903G>CCA373426549CLTA,GNEc.1600C>G (p.Pro534Ala)
c.1330C>G (p.Pro444Ala)
c.1507C>G (p.Pro503Ala)
c.1411+470C>G (n.1411+470C>G)
c.485+18724G>C (n.485+18724G>C)
c.1177C>G (p.Pro393Ala)
c.1492C>G (p.Pro498Ala)
c.1447C>G (p.Pro483Ala)
c.1354C>G (p.Pro452Ala)
9g.36222903G>TCA373426551CLTA,GNEc.1600C>A (p.Pro534Thr)
c.1330C>A (p.Pro444Thr)
c.1507C>A (p.Pro503Thr)
c.1411+470C>A (n.1411+470C>A)
c.485+18724G>T (n.485+18724G>T)
c.1177C>A (p.Pro393Thr)
c.1492C>A (p.Pro498Thr)
c.1447C>A (p.Pro483Thr)
c.1354C>A (p.Pro452Thr)
9g.36222904G>ACA464495227CLTA,GNEc.1599C>T (p.Thr533=)
c.1329C>T (p.Thr443=)
c.1506C>T (p.Thr502=)
c.1411+469C>T (n.1411+469C>T)
c.485+18725G>A (n.485+18725G>A)
c.1176C>T (p.Thr392=)
c.1491C>T (p.Thr497=)
c.1446C>T (p.Thr482=)
c.1353C>T (p.Thr451=)
9g.36222904G>CCA464495228CLTA,GNEc.1599C>G (p.Thr533=)
c.1329C>G (p.Thr443=)
c.1506C>G (p.Thr502=)
c.1411+469C>G (n.1411+469C>G)
c.485+18725G>C (n.485+18725G>C)
c.1176C>G (p.Thr392=)
c.1491C>G (p.Thr497=)
c.1446C>G (p.Thr482=)
c.1353C>G (p.Thr451=)
9g.36222904G>TCA464495229CLTA,GNEc.1599C>A (p.Thr533=)
c.1329C>A (p.Thr443=)
c.1506C>A (p.Thr502=)
c.1411+469C>A (n.1411+469C>A)
c.485+18725G>T (n.485+18725G>T)
c.1176C>A (p.Thr392=)
c.1491C>A (p.Thr497=)
c.1446C>A (p.Thr482=)
c.1353C>A (p.Thr451=)
 gnomAD v4
9g.36222905G>ACA373426556CLTA,GNEc.1598C>T (p.Thr533Ile)
c.1328C>T (p.Thr443Ile)
c.1505C>T (p.Thr502Ile)
c.1411+468C>T (n.1411+468C>T)
c.485+18726G>A (n.485+18726G>A)
c.1175C>T (p.Thr392Ile)
c.1490C>T (p.Thr497Ile)
c.1445C>T (p.Thr482Ile)
c.1352C>T (p.Thr451Ile)
9g.36222905G>CCA373426557CLTA,GNEc.1598C>G (p.Thr533Ser)
c.1328C>G (p.Thr443Ser)
c.1505C>G (p.Thr502Ser)
c.1411+468C>G (n.1411+468C>G)
c.485+18726G>C (n.485+18726G>C)
c.1175C>G (p.Thr392Ser)
c.1490C>G (p.Thr497Ser)
c.1445C>G (p.Thr482Ser)
c.1352C>G (p.Thr451Ser)
9g.36222905G=CA1846333624CLTA,GNEc.1598C= (p.Thr533=)
c.1328C= (p.Thr443=)
c.1505C= (p.Thr502=)
c.1411+468C= (n.1411+468C=)
c.485+18726G= (n.485+18726G=)
c.1175C= (p.Thr392=)
c.1490C= (p.Thr497=)
c.1445C= (p.Thr482=)
c.1352C= (p.Thr451=)
9g.36222905G>TCA373426553CLTA,GNEc.1598C>A (p.Thr533Asn)
c.1328C>A (p.Thr443Asn)
c.1505C>A (p.Thr502Asn)
c.1411+468C>A (n.1411+468C>A)
c.485+18726G>T (n.485+18726G>T)
c.1175C>A (p.Thr392Asn)
c.1490C>A (p.Thr497Asn)
c.1445C>A (p.Thr482Asn)
c.1352C>A (p.Thr451Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.36222906T>ACA373426560CLTA,GNEc.1597A>T (p.Thr533Ser)
c.1327A>T (p.Thr443Ser)
c.1504A>T (p.Thr502Ser)
c.1411+467A>T (n.1411+467A>T)
c.485+18727T>A (n.485+18727T>A)
c.1174A>T (p.Thr392Ser)
c.1489A>T (p.Thr497Ser)
c.1444A>T (p.Thr482Ser)
c.1351A>T (p.Thr451Ser)
9g.36222906T>CCA373426563CLTA,GNEc.1597A>G (p.Thr533Ala)
c.1327A>G (p.Thr443Ala)
c.1504A>G (p.Thr502Ala)
c.1411+467A>G (n.1411+467A>G)
c.485+18727T>C (n.485+18727T>C)
c.1174A>G (p.Thr392Ala)
c.1489A>G (p.Thr497Ala)
c.1444A>G (p.Thr482Ala)
c.1351A>G (p.Thr451Ala)
9g.36222906T>GCA373426573CLTA,GNEc.1597A>C (p.Thr533Pro)
c.1327A>C (p.Thr443Pro)
c.1504A>C (p.Thr502Pro)
c.1411+467A>C (n.1411+467A>C)
c.485+18727T>G (n.485+18727T>G)
c.1174A>C (p.Thr392Pro)
c.1489A>C (p.Thr497Pro)
c.1444A>C (p.Thr482Pro)
c.1351A>C (p.Thr451Pro)
9g.36222907C>ACA373426576CLTA,GNEc.1596G>T (p.Arg532Ser)
c.1326G>T (p.Arg442Ser)
c.1503G>T (p.Arg501Ser)
c.1411+466G>T (n.1411+466G>T)
c.485+18728C>A (n.485+18728C>A)
c.1173G>T (p.Arg391Ser)
c.1488G>T (p.Arg496Ser)
c.1443G>T (p.Arg481Ser)
c.1350G>T (p.Arg450Ser)
9g.36222907C>GCA373426578CLTA,GNEc.1596G>C (p.Arg532Ser)
c.1326G>C (p.Arg442Ser)
c.1503G>C (p.Arg501Ser)
c.1411+466G>C (n.1411+466G>C)
c.485+18728C>G (n.485+18728C>G)
c.1173G>C (p.Arg391Ser)
c.1488G>C (p.Arg496Ser)
c.1443G>C (p.Arg481Ser)
c.1350G>C (p.Arg450Ser)
9g.36222907C>TCA464495230CLTA,GNEc.1596G>A (p.Arg532=)
c.1326G>A (p.Arg442=)
c.1503G>A (p.Arg501=)
c.1411+466G>A (n.1411+466G>A)
c.485+18728C>T (n.485+18728C>T)
c.1173G>A (p.Arg391=)
c.1488G>A (p.Arg496=)
c.1443G>A (p.Arg481=)
c.1350G>A (p.Arg450=)
9g.36222908C>ACA373426588CLTA,GNEc.1595G>T (p.Arg532Met)
c.1325G>T (p.Arg442Met)
c.1502G>T (p.Arg501Met)
c.1411+465G>T (n.1411+465G>T)
c.485+18729C>A (n.485+18729C>A)
c.1172G>T (p.Arg391Met)
c.1487G>T (p.Arg496Met)
c.1442G>T (p.Arg481Met)
c.1349G>T (p.Arg450Met)
9g.36222908C>GCA373426581CLTA,GNEc.1595G>C (p.Arg532Thr)
c.1325G>C (p.Arg442Thr)
c.1502G>C (p.Arg501Thr)
c.1411+465G>C (n.1411+465G>C)
c.485+18729C>G (n.485+18729C>G)
c.1172G>C (p.Arg391Thr)
c.1487G>C (p.Arg496Thr)
c.1442G>C (p.Arg481Thr)
c.1349G>C (p.Arg450Thr)
9g.36222908C>TCA373426583CLTA,GNEc.1595G>A (p.Arg532Lys)
c.1325G>A (p.Arg442Lys)
c.1502G>A (p.Arg501Lys)
c.1411+465G>A (n.1411+465G>A)
c.485+18729C>T (n.485+18729C>T)
c.1172G>A (p.Arg391Lys)
c.1487G>A (p.Arg496Lys)
c.1442G>A (p.Arg481Lys)
c.1349G>A (p.Arg450Lys)
9g.36222909T>ACA373426589CLTA,GNEc.1594A>T (p.Arg532Trp)
c.1324A>T (p.Arg442Trp)
c.1501A>T (p.Arg501Trp)
c.1411+464A>T (n.1411+464A>T)
c.485+18730T>A (n.485+18730T>A)
c.1171A>T (p.Arg391Trp)
c.1486A>T (p.Arg496Trp)
c.1441A>T (p.Arg481Trp)
c.1348A>T (p.Arg450Trp)
9g.36222909T>CCA373426591CLTA,GNEc.1594A>G (p.Arg532Gly)
c.1324A>G (p.Arg442Gly)
c.1501A>G (p.Arg501Gly)
c.1411+464A>G (n.1411+464A>G)
c.485+18730T>C (n.485+18730T>C)
c.1171A>G (p.Arg391Gly)
c.1486A>G (p.Arg496Gly)
c.1441A>G (p.Arg481Gly)
c.1348A>G (p.Arg450Gly)
 gnomAD v4
9g.36222909T>GCA464495231CLTA,GNEc.1594A>C (p.Arg532=)
c.1324A>C (p.Arg442=)
c.1501A>C (p.Arg501=)
c.1411+464A>C (n.1411+464A>C)
c.485+18730T>G (n.485+18730T>G)
c.1171A>C (p.Arg391=)
c.1486A>C (p.Arg496=)
c.1441A>C (p.Arg481=)
c.1348A>C (p.Arg450=)
9g.36222910A>CCA464495232CLTA,GNEc.1593T>G (p.Leu531=)
c.1323T>G (p.Leu441=)
c.1500T>G (p.Leu500=)
c.1411+463T>G (n.1411+463T>G)
c.485+18731A>C (n.485+18731A>C)
c.1170T>G (p.Leu390=)
c.1485T>G (p.Leu495=)
c.1440T>G (p.Leu480=)
c.1347T>G (p.Leu449=)
 gnomAD v4
9g.36222910A>GCA464495233CLTA,GNEc.1593T>C (p.Leu531=)
c.1323T>C (p.Leu441=)
c.1500T>C (p.Leu500=)
c.1411+463T>C (n.1411+463T>C)
c.485+18731A>G (n.485+18731A>G)
c.1170T>C (p.Leu390=)
c.1485T>C (p.Leu495=)
c.1440T>C (p.Leu480=)
c.1347T>C (p.Leu449=)
 gnomAD v4
9g.36222910A>TCA464495234CLTA,GNEc.1593T>A (p.Leu531=)
c.1323T>A (p.Leu441=)
c.1500T>A (p.Leu500=)
c.1411+463T>A (n.1411+463T>A)
c.485+18731A>T (n.485+18731A>T)
c.1170T>A (p.Leu390=)
c.1485T>A (p.Leu495=)
c.1440T>A (p.Leu480=)
c.1347T>A (p.Leu449=)
 ClinVar dbSNP
9g.36222911A>CCA373426597CLTA,GNEc.1592T>G (p.Leu531Arg)
c.1322T>G (p.Leu441Arg)
c.1499T>G (p.Leu500Arg)
c.1411+462T>G (n.1411+462T>G)
c.485+18732A>C (n.485+18732A>C)
c.1169T>G (p.Leu390Arg)
c.1484T>G (p.Leu495Arg)
c.1439T>G (p.Leu480Arg)
c.1346T>G (p.Leu449Arg)
9g.36222911A>GCA373426599CLTA,GNEc.1592T>C (p.Leu531Pro)
c.1322T>C (p.Leu441Pro)
c.1499T>C (p.Leu500Pro)
c.1411+462T>C (n.1411+462T>C)
c.485+18732A>G (n.485+18732A>G)
c.1169T>C (p.Leu390Pro)
c.1484T>C (p.Leu495Pro)
c.1439T>C (p.Leu480Pro)
c.1346T>C (p.Leu449Pro)
9g.36222911A>TCA373426601CLTA,GNEc.1592T>A (p.Leu531His)
c.1322T>A (p.Leu441His)
c.1499T>A (p.Leu500His)
c.1411+462T>A (n.1411+462T>A)
c.485+18732A>T (n.485+18732A>T)
c.1169T>A (p.Leu390His)
c.1484T>A (p.Leu495His)
c.1439T>A (p.Leu480His)
c.1346T>A (p.Leu449His)
9g.36222912G>ACA373426603CLTA,GNEc.1591C>T (p.Leu531Phe)
c.1321C>T (p.Leu441Phe)
c.1498C>T (p.Leu500Phe)
c.1411+461C>T (n.1411+461C>T)
c.485+18733G>A (n.485+18733G>A)
c.1168C>T (p.Leu390Phe)
c.1483C>T (p.Leu495Phe)
c.1438C>T (p.Leu480Phe)
c.1345C>T (p.Leu449Phe)
 gnomAD v4
9g.36222912G>CCA373426607CLTA,GNEc.1591C>G (p.Leu531Val)
c.1321C>G (p.Leu441Val)
c.1498C>G (p.Leu500Val)
c.1411+461C>G (n.1411+461C>G)
c.485+18733G>C (n.485+18733G>C)
c.1168C>G (p.Leu390Val)
c.1483C>G (p.Leu495Val)
c.1438C>G (p.Leu480Val)
c.1345C>G (p.Leu449Val)
9g.36222912G>TCA373426606CLTA,GNEc.1591C>A (p.Leu531Ile)
c.1321C>A (p.Leu441Ile)
c.1498C>A (p.Leu500Ile)
c.1411+461C>A (n.1411+461C>A)
c.485+18733G>T (n.485+18733G>T)
c.1168C>A (p.Leu390Ile)
c.1483C>A (p.Leu495Ile)
c.1438C>A (p.Leu480Ile)
c.1345C>A (p.Leu449Ile)
9g.36222913G>ACA464495235CLTA,GNEc.1590C>T (p.Asp530=)
c.1320C>T (p.Asp440=)
c.1497C>T (p.Asp499=)
c.1411+460C>T (n.1411+460C>T)
c.485+18734G>A (n.485+18734G>A)
c.1167C>T (p.Asp389=)
c.1482C>T (p.Asp494=)
c.1437C>T (p.Asp479=)
c.1344C>T (p.Asp448=)
9g.36222913G>CCA373426610CLTA,GNEc.1590C>G (p.Asp530Glu)
c.1320C>G (p.Asp440Glu)
c.1497C>G (p.Asp499Glu)
c.1411+460C>G (n.1411+460C>G)
c.485+18734G>C (n.485+18734G>C)
c.1167C>G (p.Asp389Glu)
c.1482C>G (p.Asp494Glu)
c.1437C>G (p.Asp479Glu)
c.1344C>G (p.Asp448Glu)
9g.36222913G>TCA373426612CLTA,GNEc.1590C>A (p.Asp530Glu)
c.1320C>A (p.Asp440Glu)
c.1497C>A (p.Asp499Glu)
c.1411+460C>A (n.1411+460C>A)
c.485+18734G>T (n.485+18734G>T)
c.1167C>A (p.Asp389Glu)
c.1482C>A (p.Asp494Glu)
c.1437C>A (p.Asp479Glu)
c.1344C>A (p.Asp448Glu)
 COSMIC COSMIC COSMIC
9g.36222914T>ACA373426615CLTA,GNEc.1589A>T (p.Asp530Val)
c.1319A>T (p.Asp440Val)
c.1496A>T (p.Asp499Val)
c.1411+459A>T (n.1411+459A>T)
c.485+18735T>A (n.485+18735T>A)
c.1166A>T (p.Asp389Val)
c.1481A>T (p.Asp494Val)
c.1436A>T (p.Asp479Val)
c.1343A>T (p.Asp448Val)
9g.36222914T>CCA373426617CLTA,GNEc.1589A>G (p.Asp530Gly)
c.1319A>G (p.Asp440Gly)
c.1496A>G (p.Asp499Gly)
c.1411+459A>G (n.1411+459A>G)
c.485+18735T>C (n.485+18735T>C)
c.1166A>G (p.Asp389Gly)
c.1481A>G (p.Asp494Gly)
c.1436A>G (p.Asp479Gly)
c.1343A>G (p.Asp448Gly)
9g.36222914T>GCA373426618CLTA,GNEc.1589A>C (p.Asp530Ala)
c.1319A>C (p.Asp440Ala)
c.1496A>C (p.Asp499Ala)
c.1411+459A>C (n.1411+459A>C)
c.485+18735T>G (n.485+18735T>G)
c.1166A>C (p.Asp389Ala)
c.1481A>C (p.Asp494Ala)
c.1436A>C (p.Asp479Ala)
c.1343A>C (p.Asp448Ala)
9g.36222915C>ACA373426619CLTA,GNEc.1588G>T (p.Asp530Tyr)
c.1318G>T (p.Asp440Tyr)
c.1495G>T (p.Asp499Tyr)
c.1411+458G>T (n.1411+458G>T)
c.485+18736C>A (n.485+18736C>A)
c.1165G>T (p.Asp389Tyr)
c.1480G>T (p.Asp494Tyr)
c.1435G>T (p.Asp479Tyr)
c.1342G>T (p.Asp448Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.36222915C=CA1846333630CLTA,GNEc.1588G= (p.Asp530=)
c.1318G= (p.Asp440=)
c.1495G= (p.Asp499=)
c.1411+458G= (n.1411+458G=)
c.485+18736C= (n.485+18736C=)
c.1165G= (p.Asp389=)
c.1480G= (p.Asp494=)
c.1435G= (p.Asp479=)
c.1342G= (p.Asp448=)
9g.36222915C>GCA373426622CLTA,GNEc.1588G>C (p.Asp530His)
c.1318G>C (p.Asp440His)
c.1495G>C (p.Asp499His)
c.1411+458G>C (n.1411+458G>C)
c.485+18736C>G (n.485+18736C>G)
c.1165G>C (p.Asp389His)
c.1480G>C (p.Asp494His)
c.1435G>C (p.Asp479His)
c.1342G>C (p.Asp448His)
9g.36222915C>TCA373426623CLTA,GNEc.1588G>A (p.Asp530Asn)
c.1318G>A (p.Asp440Asn)
c.1495G>A (p.Asp499Asn)
c.1411+458G>A (n.1411+458G>A)
c.485+18736C>T (n.485+18736C>T)
c.1165G>A (p.Asp389Asn)
c.1480G>A (p.Asp494Asn)
c.1435G>A (p.Asp479Asn)
c.1342G>A (p.Asp448Asn)
9g.36222916C>ACA464495236CLTA,GNEc.1587G>T (p.Val529=)
c.1317G>T (p.Val439=)
c.1494G>T (p.Val498=)
c.1411+457G>T (n.1411+457G>T)
c.485+18737C>A (n.485+18737C>A)
c.1164G>T (p.Val388=)
c.1479G>T (p.Val493=)
c.1434G>T (p.Val478=)
c.1341G>T (p.Val447=)
9g.36222916C>GCA464495237CLTA,GNEc.1587G>C (p.Val529=)
c.1317G>C (p.Val439=)
c.1494G>C (p.Val498=)
c.1411+457G>C (n.1411+457G>C)
c.485+18737C>G (n.485+18737C>G)
c.1164G>C (p.Val388=)
c.1479G>C (p.Val493=)
c.1434G>C (p.Val478=)
c.1341G>C (p.Val447=)
9g.36222916C>TCA464495238CLTA,GNEc.1587G>A (p.Val529=)
c.1317G>A (p.Val439=)
c.1494G>A (p.Val498=)
c.1411+457G>A (n.1411+457G>A)
c.485+18737C>T (n.485+18737C>T)
c.1164G>A (p.Val388=)
c.1479G>A (p.Val493=)
c.1434G>A (p.Val478=)
c.1341G>A (p.Val447=)
9g.36222917A>CCA373426624CLTA,GNEc.1586T>G (p.Val529Gly)
c.1316T>G (p.Val439Gly)
c.1493T>G (p.Val498Gly)
c.1411+456T>G (n.1411+456T>G)
c.485+18738A>C (n.485+18738A>C)
c.1163T>G (p.Val388Gly)
c.1478T>G (p.Val493Gly)
c.1433T>G (p.Val478Gly)
c.1340T>G (p.Val447Gly)
9g.36222917A>GCA373426625CLTA,GNEc.1586T>C (p.Val529Ala)
c.1316T>C (p.Val439Ala)
c.1493T>C (p.Val498Ala)
c.1411+456T>C (n.1411+456T>C)
c.485+18738A>G (n.485+18738A>G)
c.1163T>C (p.Val388Ala)
c.1478T>C (p.Val493Ala)
c.1433T>C (p.Val478Ala)
c.1340T>C (p.Val447Ala)
9g.36222917A>TCA373426626CLTA,GNEc.1586T>A (p.Val529Glu)
c.1316T>A (p.Val439Glu)
c.1493T>A (p.Val498Glu)
c.1411+456T>A (n.1411+456T>A)
c.485+18738A>T (n.485+18738A>T)
c.1163T>A (p.Val388Glu)
c.1478T>A (p.Val493Glu)
c.1433T>A (p.Val478Glu)
c.1340T>A (p.Val447Glu)
9g.36222918C>ACA373426632CLTA,GNEc.1585G>T (p.Val529Leu)
c.1315G>T (p.Val439Leu)
c.1492G>T (p.Val498Leu)
c.1411+455G>T (n.1411+455G>T)
c.485+18739C>A (n.485+18739C>A)
c.1162G>T (p.Val388Leu)
c.1477G>T (p.Val493Leu)
c.1432G>T (p.Val478Leu)
c.1339G>T (p.Val447Leu)
9g.36222918C>GCA373426631CLTA,GNEc.1585G>C (p.Val529Leu)
c.1315G>C (p.Val439Leu)
c.1492G>C (p.Val498Leu)
c.1411+455G>C (n.1411+455G>C)
c.485+18739C>G (n.485+18739C>G)
c.1162G>C (p.Val388Leu)
c.1477G>C (p.Val493Leu)
c.1432G>C (p.Val478Leu)
c.1339G>C (p.Val447Leu)
9g.36222918C>TCA373426628CLTA,GNEc.1585G>A (p.Val529Met)
c.1315G>A (p.Val439Met)
c.1492G>A (p.Val498Met)
c.1411+455G>A (n.1411+455G>A)
c.485+18739C>T (n.485+18739C>T)
c.1162G>A (p.Val388Met)
c.1477G>A (p.Val493Met)
c.1432G>A (p.Val478Met)
c.1339G>A (p.Val447Met)
9g.36222919A>CCA464495239CLTA,GNEc.1584T>G (p.Ser528=)
c.1314T>G (p.Ser438=)
c.1491T>G (p.Ser497=)
c.1411+454T>G (n.1411+454T>G)
c.485+18740A>C (n.485+18740A>C)
c.1161T>G (p.Ser387=)
c.1476T>G (p.Ser492=)
c.1431T>G (p.Ser477=)
c.1338T>G (p.Ser446=)
9g.36222919A>GCA464495240CLTA,GNEc.1584T>C (p.Ser528=)
c.1314T>C (p.Ser438=)
c.1491T>C (p.Ser497=)
c.1411+454T>C (n.1411+454T>C)
c.485+18740A>G (n.485+18740A>G)
c.1161T>C (p.Ser387=)
c.1476T>C (p.Ser492=)
c.1431T>C (p.Ser477=)
c.1338T>C (p.Ser446=)
9g.36222919A>TCA464495241CLTA,GNEc.1584T>A (p.Ser528=)
c.1314T>A (p.Ser438=)
c.1491T>A (p.Ser497=)
c.1411+454T>A (n.1411+454T>A)
c.485+18740A>T (n.485+18740A>T)
c.1161T>A (p.Ser387=)
c.1476T>A (p.Ser492=)
c.1431T>A (p.Ser477=)
c.1338T>A (p.Ser446=)
9g.36222920G>ACA373426634CLTA,GNEc.1583C>T (p.Ser528Phe)
c.1313C>T (p.Ser438Phe)
c.1490C>T (p.Ser497Phe)
c.1411+453C>T (n.1411+453C>T)
c.485+18741G>A (n.485+18741G>A)
c.1160C>T (p.Ser387Phe)
c.1475C>T (p.Ser492Phe)
c.1430C>T (p.Ser477Phe)
c.1337C>T (p.Ser446Phe)
 gnomAD v4
9g.36222920G>CCA373426639CLTA,GNEc.1583C>G (p.Ser528Cys)
c.1313C>G (p.Ser438Cys)
c.1490C>G (p.Ser497Cys)
c.1411+453C>G (n.1411+453C>G)
c.485+18741G>C (n.485+18741G>C)
c.1160C>G (p.Ser387Cys)
c.1475C>G (p.Ser492Cys)
c.1430C>G (p.Ser477Cys)
c.1337C>G (p.Ser446Cys)
9g.36222920G>TCA373426636CLTA,GNEc.1583C>A (p.Ser528Tyr)
c.1313C>A (p.Ser438Tyr)
c.1490C>A (p.Ser497Tyr)
c.1411+453C>A (n.1411+453C>A)
c.485+18741G>T (n.485+18741G>T)
c.1160C>A (p.Ser387Tyr)
c.1475C>A (p.Ser492Tyr)
c.1430C>A (p.Ser477Tyr)
c.1337C>A (p.Ser446Tyr)
9g.36222921A>CCA373426642CLTA,GNEc.1582T>G (p.Ser528Ala)
c.1312T>G (p.Ser438Ala)
c.1489T>G (p.Ser497Ala)
c.1411+452T>G (n.1411+452T>G)
c.485+18742A>C (n.485+18742A>C)
c.1159T>G (p.Ser387Ala)
c.1474T>G (p.Ser492Ala)
c.1429T>G (p.Ser477Ala)
c.1336T>G (p.Ser446Ala)
9g.36222921A>GCA373426644CLTA,GNEc.1582T>C (p.Ser528Pro)
c.1312T>C (p.Ser438Pro)
c.1489T>C (p.Ser497Pro)
c.1411+452T>C (n.1411+452T>C)
c.485+18742A>G (n.485+18742A>G)
c.1159T>C (p.Ser387Pro)
c.1474T>C (p.Ser492Pro)
c.1429T>C (p.Ser477Pro)
c.1336T>C (p.Ser446Pro)
9g.36222921A>TCA373426645CLTA,GNEc.1582T>A (p.Ser528Thr)
c.1312T>A (p.Ser438Thr)
c.1489T>A (p.Ser497Thr)
c.1411+452T>A (n.1411+452T>A)
c.485+18742A>T (n.485+18742A>T)
c.1159T>A (p.Ser387Thr)
c.1474T>A (p.Ser492Thr)
c.1429T>A (p.Ser477Thr)
c.1336T>A (p.Ser446Thr)
9g.36222922G>ACA464495242CLTA,GNEc.1581C>T (p.Asn527=)
c.1311C>T (p.Asn437=)
c.1488C>T (p.Asn496=)
c.1411+451C>T (n.1411+451C>T)
c.485+18743G>A (n.485+18743G>A)
c.1158C>T (p.Asn386=)
c.1473C>T (p.Asn491=)
c.1428C>T (p.Asn476=)
c.1335C>T (p.Asn445=)
 ClinVar
9g.36222922G>CCA373426647CLTA,GNEc.1581C>G (p.Asn527Lys)
c.1311C>G (p.Asn437Lys)
c.1488C>G (p.Asn496Lys)
c.1411+451C>G (n.1411+451C>G)
c.485+18743G>C (n.485+18743G>C)
c.1158C>G (p.Asn386Lys)
c.1473C>G (p.Asn491Lys)
c.1428C>G (p.Asn476Lys)
c.1335C>G (p.Asn445Lys)
9g.36222922G>TCA373426648CLTA,GNEc.1581C>A (p.Asn527Lys)
c.1311C>A (p.Asn437Lys)
c.1488C>A (p.Asn496Lys)
c.1411+451C>A (n.1411+451C>A)
c.485+18743G>T (n.485+18743G>T)
c.1158C>A (p.Asn386Lys)
c.1473C>A (p.Asn491Lys)
c.1428C>A (p.Asn476Lys)
c.1335C>A (p.Asn445Lys)
9g.36222923T>ACA373426650CLTA,GNEc.1580A>T (p.Asn527Ile)
c.1310A>T (p.Asn437Ile)
c.1487A>T (p.Asn496Ile)
c.1411+450A>T (n.1411+450A>T)
c.485+18744T>A (n.485+18744T>A)
c.1157A>T (p.Asn386Ile)
c.1472A>T (p.Asn491Ile)
c.1427A>T (p.Asn476Ile)
c.1334A>T (p.Asn445Ile)
9g.36222923T>CCA373426652CLTA,GNEc.1580A>G (p.Asn527Ser)
c.1310A>G (p.Asn437Ser)
c.1487A>G (p.Asn496Ser)
c.1411+450A>G (n.1411+450A>G)
c.485+18744T>C (n.485+18744T>C)
c.1157A>G (p.Asn386Ser)
c.1472A>G (p.Asn491Ser)
c.1427A>G (p.Asn476Ser)
c.1334A>G (p.Asn445Ser)
9g.36222923T>GCA373426653CLTA,GNEc.1580A>C (p.Asn527Thr)
c.1310A>C (p.Asn437Thr)
c.1487A>C (p.Asn496Thr)
c.1411+450A>C (n.1411+450A>C)
c.485+18744T>G (n.485+18744T>G)
c.1157A>C (p.Asn386Thr)
c.1472A>C (p.Asn491Thr)
c.1427A>C (p.Asn476Thr)
c.1334A>C (p.Asn445Thr)
9g.36222924T>ACA373426655CLTA,GNEc.1579A>T (p.Asn527Tyr)
c.1309A>T (p.Asn437Tyr)
c.1486A>T (p.Asn496Tyr)
c.1411+449A>T (n.1411+449A>T)
c.485+18745T>A (n.485+18745T>A)
c.1156A>T (p.Asn386Tyr)
c.1471A>T (p.Asn491Tyr)
c.1426A>T (p.Asn476Tyr)
c.1333A>T (p.Asn445Tyr)
9g.36222924T>CCA373426656CLTA,GNEc.1579A>G (p.Asn527Asp)
c.1309A>G (p.Asn437Asp)
c.1486A>G (p.Asn496Asp)
c.1411+449A>G (n.1411+449A>G)
c.485+18745T>C (n.485+18745T>C)
c.1156A>G (p.Asn386Asp)
c.1471A>G (p.Asn491Asp)
c.1426A>G (p.Asn476Asp)
c.1333A>G (p.Asn445Asp)
 gnomAD v4
9g.36222924T>GCA373426658CLTA,GNEc.1579A>C (p.Asn527His)
c.1309A>C (p.Asn437His)
c.1486A>C (p.Asn496His)
c.1411+449A>C (n.1411+449A>C)
c.485+18745T>G (n.485+18745T>G)
c.1156A>C (p.Asn386His)
c.1471A>C (p.Asn491His)
c.1426A>C (p.Asn476His)
c.1333A>C (p.Asn445His)
9g.36222925C>ACA373426665CLTA,GNEc.1578G>T (p.Trp526Cys)
c.1308G>T (p.Trp436Cys)
c.1485G>T (p.Trp495Cys)
c.1411+448G>T (n.1411+448G>T)
c.485+18746C>A (n.485+18746C>A)
c.1155G>T (p.Trp385Cys)
c.1470G>T (p.Trp490Cys)
c.1425G>T (p.Trp475Cys)
c.1332G>T (p.Trp444Cys)
9g.36222925C=CA1846333638CLTA,GNEc.1578G= (p.Trp526=)
c.1308G= (p.Trp436=)
c.1485G= (p.Trp495=)
c.1411+448G= (n.1411+448G=)
c.485+18746C= (n.485+18746C=)
c.1155G= (p.Trp385=)
c.1470G= (p.Trp490=)
c.1425G= (p.Trp475=)
c.1332G= (p.Trp444=)
9g.36222925C>GCA373426663CLTA,GNEc.1578G>C (p.Trp526Cys)
c.1308G>C (p.Trp436Cys)
c.1485G>C (p.Trp495Cys)
c.1411+448G>C (n.1411+448G>C)
c.485+18746C>G (n.485+18746C>G)
c.1155G>C (p.Trp385Cys)
c.1470G>C (p.Trp490Cys)
c.1425G>C (p.Trp475Cys)
c.1332G>C (p.Trp444Cys)
9g.36222925C>TCA373426660CLTA,GNEc.1578G>A (p.Trp526Ter)
c.1308G>A (p.Trp436Ter)
c.1485G>A (p.Trp495Ter)
c.1411+448G>A (n.1411+448G>A)
c.485+18746C>T (n.485+18746C>T)
c.1155G>A (p.Trp385Ter)
c.1470G>A (p.Trp490Ter)
c.1425G>A (p.Trp475Ter)
c.1332G>A (p.Trp444Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222926C>ACA373426667CLTA,GNEc.1577G>T (p.Trp526Leu)
c.1307G>T (p.Trp436Leu)
c.1484G>T (p.Trp495Leu)
c.1411+447G>T (n.1411+447G>T)
c.485+18747C>A (n.485+18747C>A)
c.1154G>T (p.Trp385Leu)
c.1469G>T (p.Trp490Leu)
c.1424G>T (p.Trp475Leu)
c.1331G>T (p.Trp444Leu)
9g.36222926C=CA1846333648CLTA,GNEc.1577G= (p.Trp526=)
c.1307G= (p.Trp436=)
c.1484G= (p.Trp495=)
c.1411+447G= (n.1411+447G=)
c.485+18747C= (n.485+18747C=)
c.1154G= (p.Trp385=)
c.1469G= (p.Trp490=)
c.1424G= (p.Trp475=)
c.1331G= (p.Trp444=)
9g.36222926C>GCA373426668CLTA,GNEc.1577G>C (p.Trp526Ser)
c.1307G>C (p.Trp436Ser)
c.1484G>C (p.Trp495Ser)
c.1411+447G>C (n.1411+447G>C)
c.485+18747C>G (n.485+18747C>G)
c.1154G>C (p.Trp385Ser)
c.1469G>C (p.Trp490Ser)
c.1424G>C (p.Trp475Ser)
c.1331G>C (p.Trp444Ser)
9g.36222926C>TCA373426669CLTA,GNEc.1577G>A (p.Trp526Ter)
c.1307G>A (p.Trp436Ter)
c.1484G>A (p.Trp495Ter)
c.1411+447G>A (n.1411+447G>A)
c.485+18747C>T (n.485+18747C>T)
c.1154G>A (p.Trp385Ter)
c.1469G>A (p.Trp490Ter)
c.1424G>A (p.Trp475Ter)
c.1331G>A (p.Trp444Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222927A=CA1846333658CLTA,GNEc.1576T= (p.Trp526=)
c.1306T= (p.Trp436=)
c.1483T= (p.Trp495=)
c.1411+446T= (n.1411+446T=)
c.485+18748A= (n.485+18748A=)
c.1153T= (p.Trp385=)
c.1468T= (p.Trp490=)
c.1423T= (p.Trp475=)
c.1330T= (p.Trp444=)
9g.36222927A>CCA373426671CLTA,GNEc.1576T>G (p.Trp526Gly)
c.1306T>G (p.Trp436Gly)
c.1483T>G (p.Trp495Gly)
c.1411+446T>G (n.1411+446T>G)
c.485+18748A>C (n.485+18748A>C)
c.1153T>G (p.Trp385Gly)
c.1468T>G (p.Trp490Gly)
c.1423T>G (p.Trp475Gly)
c.1330T>G (p.Trp444Gly)
9g.36222927A>GCA373426673CLTA,GNEc.1576T>C (p.Trp526Arg)
c.1306T>C (p.Trp436Arg)
c.1483T>C (p.Trp495Arg)
c.1411+446T>C (n.1411+446T>C)
c.485+18748A>G (n.485+18748A>G)
c.1153T>C (p.Trp385Arg)
c.1468T>C (p.Trp490Arg)
c.1423T>C (p.Trp475Arg)
c.1330T>C (p.Trp444Arg)
9g.36222927A>TCA373426675CLTA,GNEc.1576T>A (p.Trp526Arg)
c.1306T>A (p.Trp436Arg)
c.1483T>A (p.Trp495Arg)
c.1411+446T>A (n.1411+446T>A)
c.485+18748A>T (n.485+18748A>T)
c.1153T>A (p.Trp385Arg)
c.1468T>A (p.Trp490Arg)
c.1423T>A (p.Trp475Arg)
c.1330T>A (p.Trp444Arg)
 dbSNP
9g.36222928C>ACA373426677CLTA,GNEc.1575G>T (p.Glu525Asp)
c.1305G>T (p.Glu435Asp)
c.1482G>T (p.Glu494Asp)
c.1411+445G>T (n.1411+445G>T)
c.485+18749C>A (n.485+18749C>A)
c.1152G>T (p.Glu384Asp)
c.1467G>T (p.Glu489Asp)
c.1422G>T (p.Glu474Asp)
c.1329G>T (p.Glu443Asp)
9g.36222928C=CA1846333688CLTA,GNEc.1575G= (p.Glu525=)
c.1305G= (p.Glu435=)
c.1482G= (p.Glu494=)
c.1411+445G= (n.1411+445G=)
c.485+18749C= (n.485+18749C=)
c.1152G= (p.Glu384=)
c.1467G= (p.Glu489=)
c.1422G= (p.Glu474=)
c.1329G= (p.Glu443=)
9g.36222928C>GCA373426678CLTA,GNEc.1575G>C (p.Glu525Asp)
c.1305G>C (p.Glu435Asp)
c.1482G>C (p.Glu494Asp)
c.1411+445G>C (n.1411+445G>C)
c.485+18749C>G (n.485+18749C>G)
c.1152G>C (p.Glu384Asp)
c.1467G>C (p.Glu489Asp)
c.1422G>C (p.Glu474Asp)
c.1329G>C (p.Glu443Asp)
9g.36222928C>TCA464495243CLTA,GNEc.1575G>A (p.Glu525=)
c.1305G>A (p.Glu435=)
c.1482G>A (p.Glu494=)
c.1411+445G>A (n.1411+445G>A)
c.485+18749C>T (n.485+18749C>T)
c.1152G>A (p.Glu384=)
c.1467G>A (p.Glu489=)
c.1422G>A (p.Glu474=)
c.1329G>A (p.Glu443=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222929T>ACA373426681CLTA,GNEc.1574A>T (p.Glu525Val)
c.1304A>T (p.Glu435Val)
c.1481A>T (p.Glu494Val)
c.1411+444A>T (n.1411+444A>T)
c.485+18750T>A (n.485+18750T>A)
c.1151A>T (p.Glu384Val)
c.1466A>T (p.Glu489Val)
c.1421A>T (p.Glu474Val)
c.1328A>T (p.Glu443Val)
9g.36222929T>CCA373426684CLTA,GNEc.1574A>G (p.Glu525Gly)
c.1304A>G (p.Glu435Gly)
c.1481A>G (p.Glu494Gly)
c.1411+444A>G (n.1411+444A>G)
c.485+18750T>C (n.485+18750T>C)
c.1151A>G (p.Glu384Gly)
c.1466A>G (p.Glu489Gly)
c.1421A>G (p.Glu474Gly)
c.1328A>G (p.Glu443Gly)
9g.36222929T>GCA373426687CLTA,GNEc.1574A>C (p.Glu525Ala)
c.1304A>C (p.Glu435Ala)
c.1481A>C (p.Glu494Ala)
c.1411+444A>C (n.1411+444A>C)
c.485+18750T>G (n.485+18750T>G)
c.1151A>C (p.Glu384Ala)
c.1466A>C (p.Glu489Ala)
c.1421A>C (p.Glu474Ala)
c.1328A>C (p.Glu443Ala)
9g.36222930C>ACA373426693CLTA,GNEc.1573G>T (p.Glu525Ter)
c.1303G>T (p.Glu435Ter)
c.1480G>T (p.Glu494Ter)
c.1411+443G>T (n.1411+443G>T)
c.485+18751C>A (n.485+18751C>A)
c.1150G>T (p.Glu384Ter)
c.1465G>T (p.Glu489Ter)
c.1420G>T (p.Glu474Ter)
c.1327G>T (p.Glu443Ter)
9g.36222930C>GCA373426691CLTA,GNEc.1573G>C (p.Glu525Gln)
c.1303G>C (p.Glu435Gln)
c.1480G>C (p.Glu494Gln)
c.1411+443G>C (n.1411+443G>C)
c.485+18751C>G (n.485+18751C>G)
c.1150G>C (p.Glu384Gln)
c.1465G>C (p.Glu489Gln)
c.1420G>C (p.Glu474Gln)
c.1327G>C (p.Glu443Gln)
 gnomAD v4
9g.36222930C>TCA373426690CLTA,GNEc.1573G>A (p.Glu525Lys)
c.1303G>A (p.Glu435Lys)
c.1480G>A (p.Glu494Lys)
c.1411+443G>A (n.1411+443G>A)
c.485+18751C>T (n.485+18751C>T)
c.1150G>A (p.Glu384Lys)
c.1465G>A (p.Glu489Lys)
c.1420G>A (p.Glu474Lys)
c.1327G>A (p.Glu443Lys)
9g.36222931T>ACA373426695CLTA,GNEc.1572A>T (p.Gln524His)
c.1302A>T (p.Gln434His)
c.1479A>T (p.Gln493His)
c.1411+442A>T (n.1411+442A>T)
c.485+18752T>A (n.485+18752T>A)
c.1149A>T (p.Gln383His)
c.1464A>T (p.Gln488His)
c.1419A>T (p.Gln473His)
c.1326A>T (p.Gln442His)
9g.36222931T>CCA464495244CLTA,GNEc.1572A>G (p.Gln524=)
c.1302A>G (p.Gln434=)
c.1479A>G (p.Gln493=)
c.1411+442A>G (n.1411+442A>G)
c.485+18752T>C (n.485+18752T>C)
c.1149A>G (p.Gln383=)
c.1464A>G (p.Gln488=)
c.1419A>G (p.Gln473=)
c.1326A>G (p.Gln442=)
9g.36222931T>GCA5056476CLTA,GNEc.1572A>C (p.Gln524His)
c.1302A>C (p.Gln434His)
c.1479A>C (p.Gln493His)
c.1411+442A>C (n.1411+442A>C)
c.485+18752T>G (n.485+18752T>G)
c.1149A>C (p.Gln383His)
c.1464A>C (p.Gln488His)
c.1419A>C (p.Gln473His)
c.1326A>C (p.Gln442His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222931T=CA1846333694CLTA,GNEc.1572A= (p.Gln524=)
c.1302A= (p.Gln434=)
c.1479A= (p.Gln493=)
c.1411+442A= (n.1411+442A=)
c.485+18752T= (n.485+18752T=)
c.1149A= (p.Gln383=)
c.1464A= (p.Gln488=)
c.1419A= (p.Gln473=)
c.1326A= (p.Gln442=)
9g.36222932T>ACA373426699CLTA,GNEc.1571A>T (p.Gln524Leu)
c.1301A>T (p.Gln434Leu)
c.1478A>T (p.Gln493Leu)
c.1411+441A>T (n.1411+441A>T)
c.485+18753T>A (n.485+18753T>A)
c.1148A>T (p.Gln383Leu)
c.1463A>T (p.Gln488Leu)
c.1418A>T (p.Gln473Leu)
c.1325A>T (p.Gln442Leu)
9g.36222932T>CCA373426701CLTA,GNEc.1571A>G (p.Gln524Arg)
c.1301A>G (p.Gln434Arg)
c.1478A>G (p.Gln493Arg)
c.1411+441A>G (n.1411+441A>G)
c.485+18753T>C (n.485+18753T>C)
c.1148A>G (p.Gln383Arg)
c.1463A>G (p.Gln488Arg)
c.1418A>G (p.Gln473Arg)
c.1325A>G (p.Gln442Arg)
9g.36222932T>GCA373426704CLTA,GNEc.1571A>C (p.Gln524Pro)
c.1301A>C (p.Gln434Pro)
c.1478A>C (p.Gln493Pro)
c.1411+441A>C (n.1411+441A>C)
c.485+18753T>G (n.485+18753T>G)
c.1148A>C (p.Gln383Pro)
c.1463A>C (p.Gln488Pro)
c.1418A>C (p.Gln473Pro)
c.1325A>C (p.Gln442Pro)
9g.36222933G>ACA373426709CLTA,GNEc.1570C>T (p.Gln524Ter)
c.1300C>T (p.Gln434Ter)
c.1477C>T (p.Gln493Ter)
c.1411+440C>T (n.1411+440C>T)
c.485+18754G>A (n.485+18754G>A)
c.1147C>T (p.Gln383Ter)
c.1462C>T (p.Gln488Ter)
c.1417C>T (p.Gln473Ter)
c.1324C>T (p.Gln442Ter)
9g.36222933G>CCA373426712CLTA,GNEc.1570C>G (p.Gln524Glu)
c.1300C>G (p.Gln434Glu)
c.1477C>G (p.Gln493Glu)
c.1411+440C>G (n.1411+440C>G)
c.485+18754G>C (n.485+18754G>C)
c.1147C>G (p.Gln383Glu)
c.1462C>G (p.Gln488Glu)
c.1417C>G (p.Gln473Glu)
c.1324C>G (p.Gln442Glu)
9g.36222933G>TCA373426713CLTA,GNEc.1570C>A (p.Gln524Lys)
c.1300C>A (p.Gln434Lys)
c.1477C>A (p.Gln493Lys)
c.1411+440C>A (n.1411+440C>A)
c.485+18754G>T (n.485+18754G>T)
c.1147C>A (p.Gln383Lys)
c.1462C>A (p.Gln488Lys)
c.1417C>A (p.Gln473Lys)
c.1324C>A (p.Gln442Lys)
 COSMIC COSMIC COSMIC
9g.36222934G>ACA464495245CLTA,GNEc.1569C>T (p.Ile523=)
c.1299C>T (p.Ile433=)
c.1476C>T (p.Ile492=)
c.1411+439C>T (n.1411+439C>T)
c.485+18755G>A (n.485+18755G>A)
c.1146C>T (p.Ile382=)
c.1461C>T (p.Ile487=)
c.1416C>T (p.Ile472=)
c.1323C>T (p.Ile441=)
 ClinVar gnomAD v4
9g.36222934G>CCA373426716CLTA,GNEc.1569C>G (p.Ile523Met)
c.1299C>G (p.Ile433Met)
c.1476C>G (p.Ile492Met)
c.1411+439C>G (n.1411+439C>G)
c.485+18755G>C (n.485+18755G>C)
c.1146C>G (p.Ile382Met)
c.1461C>G (p.Ile487Met)
c.1416C>G (p.Ile472Met)
c.1323C>G (p.Ile441Met)
9g.36222934G>TCA464495246CLTA,GNEc.1569C>A (p.Ile523=)
c.1299C>A (p.Ile433=)
c.1476C>A (p.Ile492=)
c.1411+439C>A (n.1411+439C>A)
c.485+18755G>T (n.485+18755G>T)
c.1146C>A (p.Ile382=)
c.1461C>A (p.Ile487=)
c.1416C>A (p.Ile472=)
c.1323C>A (p.Ile441=)
9g.36222935A=CA1846333704CLTA,GNEc.1568T= (p.Ile523=)
c.1298T= (p.Ile433=)
c.1475T= (p.Ile492=)
c.1411+438T= (n.1411+438T=)
c.485+18756A= (n.485+18756A=)
c.1145T= (p.Ile382=)
c.1460T= (p.Ile487=)
c.1415T= (p.Ile472=)
c.1322T= (p.Ile441=)
9g.36222935A>CCA373426718CLTA,GNEc.1568T>G (p.Ile523Ser)
c.1298T>G (p.Ile433Ser)
c.1475T>G (p.Ile492Ser)
c.1411+438T>G (n.1411+438T>G)
c.485+18756A>C (n.485+18756A>C)
c.1145T>G (p.Ile382Ser)
c.1460T>G (p.Ile487Ser)
c.1415T>G (p.Ile472Ser)
c.1322T>G (p.Ile441Ser)
9g.36222935A>GCA373426720CLTA,GNEc.1568T>C (p.Ile523Thr)
c.1298T>C (p.Ile433Thr)
c.1475T>C (p.Ile492Thr)
c.1411+438T>C (n.1411+438T>C)
c.485+18756A>G (n.485+18756A>G)
c.1145T>C (p.Ile382Thr)
c.1460T>C (p.Ile487Thr)
c.1415T>C (p.Ile472Thr)
c.1322T>C (p.Ile441Thr)
9g.36222935A>TCA373426721CLTA,GNEc.1568T>A (p.Ile523Asn)
c.1298T>A (p.Ile433Asn)
c.1475T>A (p.Ile492Asn)
c.1411+438T>A (n.1411+438T>A)
c.485+18756A>T (n.485+18756A>T)
c.1145T>A (p.Ile382Asn)
c.1460T>A (p.Ile487Asn)
c.1415T>A (p.Ile472Asn)
c.1322T>A (p.Ile441Asn)
 ClinVar dbSNP gnomAD v4
9g.36222936T>ACA373426726CLTA,GNEc.1567A>T (p.Ile523Phe)
c.1297A>T (p.Ile433Phe)
c.1474A>T (p.Ile492Phe)
c.1411+437A>T (n.1411+437A>T)
c.485+18757T>A (n.485+18757T>A)
c.1144A>T (p.Ile382Phe)
c.1459A>T (p.Ile487Phe)
c.1414A>T (p.Ile472Phe)
c.1321A>T (p.Ile441Phe)
9g.36222936T>CCA373426725CLTA,GNEc.1567A>G (p.Ile523Val)
c.1297A>G (p.Ile433Val)
c.1474A>G (p.Ile492Val)
c.1411+437A>G (n.1411+437A>G)
c.485+18757T>C (n.485+18757T>C)
c.1144A>G (p.Ile382Val)
c.1459A>G (p.Ile487Val)
c.1414A>G (p.Ile472Val)
c.1321A>G (p.Ile441Val)
9g.36222936T>GCA373426723CLTA,GNEc.1567A>C (p.Ile523Leu)
c.1297A>C (p.Ile433Leu)
c.1474A>C (p.Ile492Leu)
c.1411+437A>C (n.1411+437A>C)
c.485+18757T>G (n.485+18757T>G)
c.1144A>C (p.Ile382Leu)
c.1459A>C (p.Ile487Leu)
c.1414A>C (p.Ile472Leu)
c.1321A>C (p.Ile441Leu)
 gnomAD v4
9g.36222937C>ACA464495247CLTA,GNEc.1566G>T (p.Leu522=)
c.1296G>T (p.Leu432=)
c.1473G>T (p.Leu491=)
c.1411+436G>T (n.1411+436G>T)
c.485+18758C>A (n.485+18758C>A)
c.1143G>T (p.Leu381=)
c.1458G>T (p.Leu486=)
c.1413G>T (p.Leu471=)
c.1320G>T (p.Leu440=)
9g.36222937C>GCA464495248CLTA,GNEc.1566G>C (p.Leu522=)
c.1296G>C (p.Leu432=)
c.1473G>C (p.Leu491=)
c.1411+436G>C (n.1411+436G>C)
c.485+18758C>G (n.485+18758C>G)
c.1143G>C (p.Leu381=)
c.1458G>C (p.Leu486=)
c.1413G>C (p.Leu471=)
c.1320G>C (p.Leu440=)
9g.36222937C>TCA464495249CLTA,GNEc.1566G>A (p.Leu522=)
c.1296G>A (p.Leu432=)
c.1473G>A (p.Leu491=)
c.1411+436G>A (n.1411+436G>A)
c.485+18758C>T (n.485+18758C>T)
c.1143G>A (p.Leu381=)
c.1458G>A (p.Leu486=)
c.1413G>A (p.Leu471=)
c.1320G>A (p.Leu440=)
 gnomAD v4
9g.36222938A>CCA373426728CLTA,GNEc.1565T>G (p.Leu522Arg)
c.1295T>G (p.Leu432Arg)
c.1472T>G (p.Leu491Arg)
c.1411+435T>G (n.1411+435T>G)
c.485+18759A>C (n.485+18759A>C)
c.1142T>G (p.Leu381Arg)
c.1457T>G (p.Leu486Arg)
c.1412T>G (p.Leu471Arg)
c.1319T>G (p.Leu440Arg)
9g.36222938A>GCA373426734CLTA,GNEc.1565T>C (p.Leu522Pro)
c.1295T>C (p.Leu432Pro)
c.1472T>C (p.Leu491Pro)
c.1411+435T>C (n.1411+435T>C)
c.485+18759A>G (n.485+18759A>G)
c.1142T>C (p.Leu381Pro)
c.1457T>C (p.Leu486Pro)
c.1412T>C (p.Leu471Pro)
c.1319T>C (p.Leu440Pro)
9g.36222938A>TCA373426735CLTA,GNEc.1565T>A (p.Leu522Gln)
c.1295T>A (p.Leu432Gln)
c.1472T>A (p.Leu491Gln)
c.1411+435T>A (n.1411+435T>A)
c.485+18759A>T (n.485+18759A>T)
c.1142T>A (p.Leu381Gln)
c.1457T>A (p.Leu486Gln)
c.1412T>A (p.Leu471Gln)
c.1319T>A (p.Leu440Gln)
9g.36222939G>ACA464495250CLTA,GNEc.1564C>T (p.Leu522=)
c.1294C>T (p.Leu432=)
c.1471C>T (p.Leu491=)
c.1411+434C>T (n.1411+434C>T)
c.485+18760G>A (n.485+18760G>A)
c.1141C>T (p.Leu381=)
c.1456C>T (p.Leu486=)
c.1411C>T (p.Leu471=)
c.1318C>T (p.Leu440=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222939G>CCA373426739CLTA,GNEc.1564C>G (p.Leu522Val)
c.1294C>G (p.Leu432Val)
c.1471C>G (p.Leu491Val)
c.1411+434C>G (n.1411+434C>G)
c.485+18760G>C (n.485+18760G>C)
c.1141C>G (p.Leu381Val)
c.1456C>G (p.Leu486Val)
c.1411C>G (p.Leu471Val)
c.1318C>G (p.Leu440Val)
9g.36222939G=CA1846333708CLTA,GNEc.1564C= (p.Leu522=)
c.1294C= (p.Leu432=)
c.1471C= (p.Leu491=)
c.1411+434C= (n.1411+434C=)
c.485+18760G= (n.485+18760G=)
c.1141C= (p.Leu381=)
c.1456C= (p.Leu486=)
c.1411C= (p.Leu471=)
c.1318C= (p.Leu440=)
9g.36222939G>TCA373426740CLTA,GNEc.1564C>A (p.Leu522Met)
c.1294C>A (p.Leu432Met)
c.1471C>A (p.Leu491Met)
c.1411+434C>A (n.1411+434C>A)
c.485+18760G>T (n.485+18760G>T)
c.1141C>A (p.Leu381Met)
c.1456C>A (p.Leu486Met)
c.1411C>A (p.Leu471Met)
c.1318C>A (p.Leu440Met)
9g.36222940T>ACA373426744CLTA,GNEc.1563A>T (p.Lys521Asn)
c.1293A>T (p.Lys431Asn)
c.1470A>T (p.Lys490Asn)
c.1411+433A>T (n.1411+433A>T)
c.485+18761T>A (n.485+18761T>A)
c.1140A>T (p.Lys380Asn)
c.1455A>T (p.Lys485Asn)
c.1410A>T (p.Lys470Asn)
c.1317A>T (p.Lys439Asn)
9g.36222940T>CCA464495251CLTA,GNEc.1563A>G (p.Lys521=)
c.1293A>G (p.Lys431=)
c.1470A>G (p.Lys490=)
c.1411+433A>G (n.1411+433A>G)
c.485+18761T>C (n.485+18761T>C)
c.1140A>G (p.Lys380=)
c.1455A>G (p.Lys485=)
c.1410A>G (p.Lys470=)
c.1317A>G (p.Lys439=)
 ClinVar gnomAD v4
9g.36222940T>GCA373426745CLTA,GNEc.1563A>C (p.Lys521Asn)
c.1293A>C (p.Lys431Asn)
c.1470A>C (p.Lys490Asn)
c.1411+433A>C (n.1411+433A>C)
c.485+18761T>G (n.485+18761T>G)
c.1140A>C (p.Lys380Asn)
c.1455A>C (p.Lys485Asn)
c.1410A>C (p.Lys470Asn)
c.1317A>C (p.Lys439Asn)
9g.36222941T>ACA373426746CLTA,GNEc.1562A>T (p.Lys521Ile)
c.1292A>T (p.Lys431Ile)
c.1469A>T (p.Lys490Ile)
c.1411+432A>T (n.1411+432A>T)
c.485+18762T>A (n.485+18762T>A)
c.1139A>T (p.Lys380Ile)
c.1454A>T (p.Lys485Ile)
c.1409A>T (p.Lys470Ile)
c.1316A>T (p.Lys439Ile)
9g.36222941T>CCA373426747CLTA,GNEc.1562A>G (p.Lys521Arg)
c.1292A>G (p.Lys431Arg)
c.1469A>G (p.Lys490Arg)
c.1411+432A>G (n.1411+432A>G)
c.485+18762T>C (n.485+18762T>C)
c.1139A>G (p.Lys380Arg)
c.1454A>G (p.Lys485Arg)
c.1409A>G (p.Lys470Arg)
c.1316A>G (p.Lys439Arg)
9g.36222941T>GCA373426749CLTA,GNEc.1562A>C (p.Lys521Thr)
c.1292A>C (p.Lys431Thr)
c.1469A>C (p.Lys490Thr)
c.1411+432A>C (n.1411+432A>C)
c.485+18762T>G (n.485+18762T>G)
c.1139A>C (p.Lys380Thr)
c.1454A>C (p.Lys485Thr)
c.1409A>C (p.Lys470Thr)
c.1316A>C (p.Lys439Thr)
9g.36222942T>ACA373426751CLTA,GNEc.1561A>T (p.Lys521Ter)
c.1291A>T (p.Lys431Ter)
c.1468A>T (p.Lys490Ter)
c.1411+431A>T (n.1411+431A>T)
c.485+18763T>A (n.485+18763T>A)
c.1138A>T (p.Lys380Ter)
c.1453A>T (p.Lys485Ter)
c.1408A>T (p.Lys470Ter)
c.1315A>T (p.Lys439Ter)
 ClinVar dbSNP gnomAD v4
9g.36222942T>CCA373426752CLTA,GNEc.1561A>G (p.Lys521Glu)
c.1291A>G (p.Lys431Glu)
c.1468A>G (p.Lys490Glu)
c.1411+431A>G (n.1411+431A>G)
c.485+18763T>C (n.485+18763T>C)
c.1138A>G (p.Lys380Glu)
c.1453A>G (p.Lys485Glu)
c.1408A>G (p.Lys470Glu)
c.1315A>G (p.Lys439Glu)
9g.36222942T>GCA373426753CLTA,GNEc.1561A>C (p.Lys521Gln)
c.1291A>C (p.Lys431Gln)
c.1468A>C (p.Lys490Gln)
c.1411+431A>C (n.1411+431A>C)
c.485+18763T>G (n.485+18763T>G)
c.1138A>C (p.Lys380Gln)
c.1453A>C (p.Lys485Gln)
c.1408A>C (p.Lys470Gln)
c.1315A>C (p.Lys439Gln)
9g.36222942T=CA1846333719CLTA,GNEc.1561A= (p.Lys521=)
c.1291A= (p.Lys431=)
c.1468A= (p.Lys490=)
c.1411+431A= (n.1411+431A=)
c.485+18763T= (n.485+18763T=)
c.1138A= (p.Lys380=)
c.1453A= (p.Lys485=)
c.1408A= (p.Lys470=)
c.1315A= (p.Lys439=)
9g.36222943G>ACA464495252CLTA,GNEc.1560C>T (p.Thr520=)
c.1290C>T (p.Thr430=)
c.1467C>T (p.Thr489=)
c.1411+430C>T (n.1411+430C>T)
c.485+18764G>A (n.485+18764G>A)
c.1137C>T (p.Thr379=)
c.1452C>T (p.Thr484=)
c.1407C>T (p.Thr469=)
c.1314C>T (p.Thr438=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222943G>CCA464495254CLTA,GNEc.1560C>G (p.Thr520=)
c.1290C>G (p.Thr430=)
c.1467C>G (p.Thr489=)
c.1411+430C>G (n.1411+430C>G)
c.485+18764G>C (n.485+18764G>C)
c.1137C>G (p.Thr379=)
c.1452C>G (p.Thr484=)
c.1407C>G (p.Thr469=)
c.1314C>G (p.Thr438=)
9g.36222943G=CA1846333726CLTA,GNEc.1560C= (p.Thr520=)
c.1290C= (p.Thr430=)
c.1467C= (p.Thr489=)
c.1411+430C= (n.1411+430C=)
c.485+18764G= (n.485+18764G=)
c.1137C= (p.Thr379=)
c.1452C= (p.Thr484=)
c.1407C= (p.Thr469=)
c.1314C= (p.Thr438=)
9g.36222943G>TCA464495253CLTA,GNEc.1560C>A (p.Thr520=)
c.1290C>A (p.Thr430=)
c.1467C>A (p.Thr489=)
c.1411+430C>A (n.1411+430C>A)
c.485+18764G>T (n.485+18764G>T)
c.1137C>A (p.Thr379=)
c.1452C>A (p.Thr484=)
c.1407C>A (p.Thr469=)
c.1314C>A (p.Thr438=)
9g.36222944G>ACA373426760CLTA,GNEc.1559C>T (p.Thr520Ile)
c.1289C>T (p.Thr430Ile)
c.1466C>T (p.Thr489Ile)
c.1411+429C>T (n.1411+429C>T)
c.485+18765G>A (n.485+18765G>A)
c.1136C>T (p.Thr379Ile)
c.1451C>T (p.Thr484Ile)
c.1406C>T (p.Thr469Ile)
c.1313C>T (p.Thr438Ile)
 ClinVar
9g.36222944G>CCA373426758CLTA,GNEc.1559C>G (p.Thr520Ser)
c.1289C>G (p.Thr430Ser)
c.1466C>G (p.Thr489Ser)
c.1411+429C>G (n.1411+429C>G)
c.485+18765G>C (n.485+18765G>C)
c.1136C>G (p.Thr379Ser)
c.1451C>G (p.Thr484Ser)
c.1406C>G (p.Thr469Ser)
c.1313C>G (p.Thr438Ser)
9g.36222944G>TCA373426756CLTA,GNEc.1559C>A (p.Thr520Asn)
c.1289C>A (p.Thr430Asn)
c.1466C>A (p.Thr489Asn)
c.1411+429C>A (n.1411+429C>A)
c.485+18765G>T (n.485+18765G>T)
c.1136C>A (p.Thr379Asn)
c.1451C>A (p.Thr484Asn)
c.1406C>A (p.Thr469Asn)
c.1313C>A (p.Thr438Asn)
9g.36222945T>ACA373426762CLTA,GNEc.1558A>T (p.Thr520Ser)
c.1288A>T (p.Thr430Ser)
c.1465A>T (p.Thr489Ser)
c.1411+428A>T (n.1411+428A>T)
c.485+18766T>A (n.485+18766T>A)
c.1135A>T (p.Thr379Ser)
c.1450A>T (p.Thr484Ser)
c.1405A>T (p.Thr469Ser)
c.1312A>T (p.Thr438Ser)
9g.36222945T>CCA373426761CLTA,GNEc.1558A>G (p.Thr520Ala)
c.1288A>G (p.Thr430Ala)
c.1465A>G (p.Thr489Ala)
c.1411+428A>G (n.1411+428A>G)
c.485+18766T>C (n.485+18766T>C)
c.1135A>G (p.Thr379Ala)
c.1450A>G (p.Thr484Ala)
c.1405A>G (p.Thr469Ala)
c.1312A>G (p.Thr438Ala)
9g.36222945T>GCA373426763CLTA,GNEc.1558A>C (p.Thr520Pro)
c.1288A>C (p.Thr430Pro)
c.1465A>C (p.Thr489Pro)
c.1411+428A>C (n.1411+428A>C)
c.485+18766T>G (n.485+18766T>G)
c.1135A>C (p.Thr379Pro)
c.1450A>C (p.Thr484Pro)
c.1405A>C (p.Thr469Pro)
c.1312A>C (p.Thr438Pro)
9g.36222946T>ACA464495255CLTA,GNEc.1557A>T (p.Ser519=)
c.1287A>T (p.Ser429=)
c.1464A>T (p.Ser488=)
c.1411+427A>T (n.1411+427A>T)
c.485+18767T>A (n.485+18767T>A)
c.1134A>T (p.Ser378=)
c.1449A>T (p.Ser483=)
c.1404A>T (p.Ser468=)
c.1311A>T (p.Ser437=)
9g.36222946T>CCA5056477CLTA,GNEc.1557A>G (p.Ser519=)
c.1287A>G (p.Ser429=)
c.1464A>G (p.Ser488=)
c.1411+427A>G (n.1411+427A>G)
c.485+18767T>C (n.485+18767T>C)
c.1134A>G (p.Ser378=)
c.1449A>G (p.Ser483=)
c.1404A>G (p.Ser468=)
c.1311A>G (p.Ser437=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222946T>GCA464495256CLTA,GNEc.1557A>C (p.Ser519=)
c.1287A>C (p.Ser429=)
c.1464A>C (p.Ser488=)
c.1411+427A>C (n.1411+427A>C)
c.485+18767T>G (n.485+18767T>G)
c.1134A>C (p.Ser378=)
c.1449A>C (p.Ser483=)
c.1404A>C (p.Ser468=)
c.1311A>C (p.Ser437=)
9g.36222946T=CA1846333733CLTA,GNEc.1557A= (p.Ser519=)
c.1287A= (p.Ser429=)
c.1464A= (p.Ser488=)
c.1411+427A= (n.1411+427A=)
c.485+18767T= (n.485+18767T=)
c.1134A= (p.Ser378=)
c.1449A= (p.Ser483=)
c.1404A= (p.Ser468=)
c.1311A= (p.Ser437=)

Number of alleles fetched