Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36222782C>ACA373426039CLTA,GNEc.1721G>T (p.Gly574Val)
c.1451G>T (p.Gly484Val)
c.1628G>T (p.Gly543Val)
c.1411+591G>T (n.1411+591G>T)
c.485+18603C>A (n.485+18603C>A)
c.1298G>T (p.Gly433Val)
c.1613G>T (p.Gly538Val)
c.1568G>T (p.Gly523Val)
c.1475G>T (p.Gly492Val)
9g.36222782C=CA1846333229CLTA,GNEc.1721G= (p.Gly574=)
c.1451G= (p.Gly484=)
c.1628G= (p.Gly543=)
c.1411+591G= (n.1411+591G=)
c.485+18603C= (n.485+18603C=)
c.1298G= (p.Gly433=)
c.1613G= (p.Gly538=)
c.1568G= (p.Gly523=)
c.1475G= (p.Gly492=)
9g.36222782C>GCA373426037CLTA,GNEc.1721G>C (p.Gly574Ala)
c.1451G>C (p.Gly484Ala)
c.1628G>C (p.Gly543Ala)
c.1411+591G>C (n.1411+591G>C)
c.485+18603C>G (n.485+18603C>G)
c.1298G>C (p.Gly433Ala)
c.1613G>C (p.Gly538Ala)
c.1568G>C (p.Gly523Ala)
c.1475G>C (p.Gly492Ala)
9g.36222782C>TCA373426038CLTA,GNEc.1721G>A (p.Gly574Asp)
c.1451G>A (p.Gly484Asp)
c.1628G>A (p.Gly543Asp)
c.1411+591G>A (n.1411+591G>A)
c.485+18603C>T (n.485+18603C>T)
c.1298G>A (p.Gly433Asp)
c.1613G>A (p.Gly538Asp)
c.1568G>A (p.Gly523Asp)
c.1475G>A (p.Gly492Asp)
 dbSNP gnomAD v4
9g.36222783C>ACA373426041CLTA,GNEc.1720G>T (p.Gly574Cys)
c.1450G>T (p.Gly484Cys)
c.1627G>T (p.Gly543Cys)
c.1411+590G>T (n.1411+590G>T)
c.485+18604C>A (n.485+18604C>A)
c.1297G>T (p.Gly433Cys)
c.1612G>T (p.Gly538Cys)
c.1567G>T (p.Gly523Cys)
c.1474G>T (p.Gly492Cys)
9g.36222783C>GCA373426042CLTA,GNEc.1720G>C (p.Gly574Arg)
c.1450G>C (p.Gly484Arg)
c.1627G>C (p.Gly543Arg)
c.1411+590G>C (n.1411+590G>C)
c.485+18604C>G (n.485+18604C>G)
c.1297G>C (p.Gly433Arg)
c.1612G>C (p.Gly538Arg)
c.1567G>C (p.Gly523Arg)
c.1474G>C (p.Gly492Arg)
9g.36222783C>TCA373426043CLTA,GNEc.1720G>A (p.Gly574Ser)
c.1450G>A (p.Gly484Ser)
c.1627G>A (p.Gly543Ser)
c.1411+590G>A (n.1411+590G>A)
c.485+18604C>T (n.485+18604C>T)
c.1297G>A (p.Gly433Ser)
c.1612G>A (p.Gly538Ser)
c.1567G>A (p.Gly523Ser)
c.1474G>A (p.Gly492Ser)
9g.36222784T>ACA464495147CLTA,GNEc.1719A>T (p.Thr573=)
c.1449A>T (p.Thr483=)
c.1626A>T (p.Thr542=)
c.1411+589A>T (n.1411+589A>T)
c.485+18605T>A (n.485+18605T>A)
c.1296A>T (p.Thr432=)
c.1611A>T (p.Thr537=)
c.1566A>T (p.Thr522=)
c.1473A>T (p.Thr491=)
9g.36222784T>CCA464495148CLTA,GNEc.1719A>G (p.Thr573=)
c.1449A>G (p.Thr483=)
c.1626A>G (p.Thr542=)
c.1411+589A>G (n.1411+589A>G)
c.485+18605T>C (n.485+18605T>C)
c.1296A>G (p.Thr432=)
c.1611A>G (p.Thr537=)
c.1566A>G (p.Thr522=)
c.1473A>G (p.Thr491=)
 dbSNP gnomAD v2 gnomAD v4
9g.36222784T>GCA464495146CLTA,GNEc.1719A>C (p.Thr573=)
c.1449A>C (p.Thr483=)
c.1626A>C (p.Thr542=)
c.1411+589A>C (n.1411+589A>C)
c.485+18605T>G (n.485+18605T>G)
c.1296A>C (p.Thr432=)
c.1611A>C (p.Thr537=)
c.1566A>C (p.Thr522=)
c.1473A>C (p.Thr491=)
9g.36222784T=CA1846333234CLTA,GNEc.1719A= (p.Thr573=)
c.1449A= (p.Thr483=)
c.1626A= (p.Thr542=)
c.1411+589A= (n.1411+589A=)
c.485+18605T= (n.485+18605T=)
c.1296A= (p.Thr432=)
c.1611A= (p.Thr537=)
c.1566A= (p.Thr522=)
c.1473A= (p.Thr491=)
9g.36222785G>ACA373426044CLTA,GNEc.1718C>T (p.Thr573Ile)
c.1448C>T (p.Thr483Ile)
c.1625C>T (p.Thr542Ile)
c.1411+588C>T (n.1411+588C>T)
c.485+18606G>A (n.485+18606G>A)
c.1295C>T (p.Thr432Ile)
c.1610C>T (p.Thr537Ile)
c.1565C>T (p.Thr522Ile)
c.1472C>T (p.Thr491Ile)
 gnomAD v4
9g.36222785G>CCA373426045CLTA,GNEc.1718C>G (p.Thr573Arg)
c.1448C>G (p.Thr483Arg)
c.1625C>G (p.Thr542Arg)
c.1411+588C>G (n.1411+588C>G)
c.485+18606G>C (n.485+18606G>C)
c.1295C>G (p.Thr432Arg)
c.1610C>G (p.Thr537Arg)
c.1565C>G (p.Thr522Arg)
c.1472C>G (p.Thr491Arg)
9g.36222785G>TCA373426047CLTA,GNEc.1718C>A (p.Thr573Lys)
c.1448C>A (p.Thr483Lys)
c.1625C>A (p.Thr542Lys)
c.1411+588C>A (n.1411+588C>A)
c.485+18606G>T (n.485+18606G>T)
c.1295C>A (p.Thr432Lys)
c.1610C>A (p.Thr537Lys)
c.1565C>A (p.Thr522Lys)
c.1472C>A (p.Thr491Lys)
 gnomAD v4
9g.36222786T>ACA373426048CLTA,GNEc.1717A>T (p.Thr573Ser)
c.1447A>T (p.Thr483Ser)
c.1624A>T (p.Thr542Ser)
c.1411+587A>T (n.1411+587A>T)
c.485+18607T>A (n.485+18607T>A)
c.1294A>T (p.Thr432Ser)
c.1609A>T (p.Thr537Ser)
c.1564A>T (p.Thr522Ser)
c.1471A>T (p.Thr491Ser)
9g.36222786T>CCA373426050CLTA,GNEc.1717A>G (p.Thr573Ala)
c.1447A>G (p.Thr483Ala)
c.1624A>G (p.Thr542Ala)
c.1411+587A>G (n.1411+587A>G)
c.485+18607T>C (n.485+18607T>C)
c.1294A>G (p.Thr432Ala)
c.1609A>G (p.Thr537Ala)
c.1564A>G (p.Thr522Ala)
c.1471A>G (p.Thr491Ala)
9g.36222786T>GCA373426049CLTA,GNEc.1717A>C (p.Thr573Pro)
c.1447A>C (p.Thr483Pro)
c.1624A>C (p.Thr542Pro)
c.1411+587A>C (n.1411+587A>C)
c.485+18607T>G (n.485+18607T>G)
c.1294A>C (p.Thr432Pro)
c.1609A>C (p.Thr537Pro)
c.1564A>C (p.Thr522Pro)
c.1471A>C (p.Thr491Pro)
9g.36222787G>ACA464495149CLTA,GNEc.1716C>T (p.Ile572=)
c.1446C>T (p.Ile482=)
c.1623C>T (p.Ile541=)
c.1411+586C>T (n.1411+586C>T)
c.485+18608G>A (n.485+18608G>A)
c.1293C>T (p.Ile431=)
c.1608C>T (p.Ile536=)
c.1563C>T (p.Ile521=)
c.1470C>T (p.Ile490=)
 gnomAD v4
9g.36222787G>CCA373426052CLTA,GNEc.1716C>G (p.Ile572Met)
c.1446C>G (p.Ile482Met)
c.1623C>G (p.Ile541Met)
c.1411+586C>G (n.1411+586C>G)
c.485+18608G>C (n.485+18608G>C)
c.1293C>G (p.Ile431Met)
c.1608C>G (p.Ile536Met)
c.1563C>G (p.Ile521Met)
c.1470C>G (p.Ile490Met)
9g.36222787G>TCA464495150CLTA,GNEc.1716C>A (p.Ile572=)
c.1446C>A (p.Ile482=)
c.1623C>A (p.Ile541=)
c.1411+586C>A (n.1411+586C>A)
c.485+18608G>T (n.485+18608G>T)
c.1293C>A (p.Ile431=)
c.1608C>A (p.Ile536=)
c.1563C>A (p.Ile521=)
c.1470C>A (p.Ile490=)
9g.36222788A=CA1846333239CLTA,GNEc.1715T= (p.Ile572=)
c.1445T= (p.Ile482=)
c.1622T= (p.Ile541=)
c.1411+585T= (n.1411+585T=)
c.485+18609A= (n.485+18609A=)
c.1292T= (p.Ile431=)
c.1607T= (p.Ile536=)
c.1562T= (p.Ile521=)
c.1469T= (p.Ile490=)
9g.36222788A>CCA373426054CLTA,GNEc.1715T>G (p.Ile572Ser)
c.1445T>G (p.Ile482Ser)
c.1622T>G (p.Ile541Ser)
c.1411+585T>G (n.1411+585T>G)
c.485+18609A>C (n.485+18609A>C)
c.1292T>G (p.Ile431Ser)
c.1607T>G (p.Ile536Ser)
c.1562T>G (p.Ile521Ser)
c.1469T>G (p.Ile490Ser)
9g.36222788A>GCA5056460CLTA,GNEc.1715T>C (p.Ile572Thr)
c.1445T>C (p.Ile482Thr)
c.1622T>C (p.Ile541Thr)
c.1411+585T>C (n.1411+585T>C)
c.485+18609A>G (n.485+18609A>G)
c.1292T>C (p.Ile431Thr)
c.1607T>C (p.Ile536Thr)
c.1562T>C (p.Ile521Thr)
c.1469T>C (p.Ile490Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222788A>TCA373426056CLTA,GNEc.1715T>A (p.Ile572Asn)
c.1445T>A (p.Ile482Asn)
c.1622T>A (p.Ile541Asn)
c.1411+585T>A (n.1411+585T>A)
c.485+18609A>T (n.485+18609A>T)
c.1292T>A (p.Ile431Asn)
c.1607T>A (p.Ile536Asn)
c.1562T>A (p.Ile521Asn)
c.1469T>A (p.Ile490Asn)
9g.36222789T>ACA373426058CLTA,GNEc.1714A>T (p.Ile572Phe)
c.1444A>T (p.Ile482Phe)
c.1621A>T (p.Ile541Phe)
c.1411+584A>T (n.1411+584A>T)
c.485+18610T>A (n.485+18610T>A)
c.1291A>T (p.Ile431Phe)
c.1606A>T (p.Ile536Phe)
c.1561A>T (p.Ile521Phe)
c.1468A>T (p.Ile490Phe)
9g.36222789T>CCA373426061CLTA,GNEc.1714A>G (p.Ile572Val)
c.1444A>G (p.Ile482Val)
c.1621A>G (p.Ile541Val)
c.1411+584A>G (n.1411+584A>G)
c.485+18610T>C (n.485+18610T>C)
c.1291A>G (p.Ile431Val)
c.1606A>G (p.Ile536Val)
c.1561A>G (p.Ile521Val)
c.1468A>G (p.Ile490Val)
9g.36222789T>GCA373426060CLTA,GNEc.1714A>C (p.Ile572Leu)
c.1444A>C (p.Ile482Leu)
c.1621A>C (p.Ile541Leu)
c.1411+584A>C (n.1411+584A>C)
c.485+18610T>G (n.485+18610T>G)
c.1291A>C (p.Ile431Leu)
c.1606A>C (p.Ile536Leu)
c.1561A>C (p.Ile521Leu)
c.1468A>C (p.Ile490Leu)
9g.36222790A=CA1846333244CLTA,GNEc.1713T= (p.Leu571=)
c.1443T= (p.Leu481=)
c.1620T= (p.Leu540=)
c.1411+583T= (n.1411+583T=)
c.485+18611A= (n.485+18611A=)
c.1290T= (p.Leu430=)
c.1605T= (p.Leu535=)
c.1560T= (p.Leu520=)
c.1467T= (p.Leu489=)
9g.36222790A>CCA464495151CLTA,GNEc.1713T>G (p.Leu571=)
c.1443T>G (p.Leu481=)
c.1620T>G (p.Leu540=)
c.1411+583T>G (n.1411+583T>G)
c.485+18611A>C (n.485+18611A>C)
c.1290T>G (p.Leu430=)
c.1605T>G (p.Leu535=)
c.1560T>G (p.Leu520=)
c.1467T>G (p.Leu489=)
9g.36222790A>GCA5056461CLTA,GNEc.1713T>C (p.Leu571=)
c.1443T>C (p.Leu481=)
c.1620T>C (p.Leu540=)
c.1411+583T>C (n.1411+583T>C)
c.485+18611A>G (n.485+18611A>G)
c.1290T>C (p.Leu430=)
c.1605T>C (p.Leu535=)
c.1560T>C (p.Leu520=)
c.1467T>C (p.Leu489=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222790A>TCA464495152CLTA,GNEc.1713T>A (p.Leu571=)
c.1443T>A (p.Leu481=)
c.1620T>A (p.Leu540=)
c.1411+583T>A (n.1411+583T>A)
c.485+18611A>T (n.485+18611A>T)
c.1290T>A (p.Leu430=)
c.1605T>A (p.Leu535=)
c.1560T>A (p.Leu520=)
c.1467T>A (p.Leu489=)
9g.36222791A>CCA373426064CLTA,GNEc.1712T>G (p.Leu571Arg)
c.1442T>G (p.Leu481Arg)
c.1619T>G (p.Leu540Arg)
c.1411+582T>G (n.1411+582T>G)
c.485+18612A>C (n.485+18612A>C)
c.1289T>G (p.Leu430Arg)
c.1604T>G (p.Leu535Arg)
c.1559T>G (p.Leu520Arg)
c.1466T>G (p.Leu489Arg)
9g.36222791A>GCA373426067CLTA,GNEc.1712T>C (p.Leu571Pro)
c.1442T>C (p.Leu481Pro)
c.1619T>C (p.Leu540Pro)
c.1411+582T>C (n.1411+582T>C)
c.485+18612A>G (n.485+18612A>G)
c.1289T>C (p.Leu430Pro)
c.1604T>C (p.Leu535Pro)
c.1559T>C (p.Leu520Pro)
c.1466T>C (p.Leu489Pro)
9g.36222791A>TCA373426069CLTA,GNEc.1712T>A (p.Leu571His)
c.1442T>A (p.Leu481His)
c.1619T>A (p.Leu540His)
c.1411+582T>A (n.1411+582T>A)
c.485+18612A>T (n.485+18612A>T)
c.1289T>A (p.Leu430His)
c.1604T>A (p.Leu535His)
c.1559T>A (p.Leu520His)
c.1466T>A (p.Leu489His)
9g.36222792G>ACA373426071CLTA,GNEc.1711C>T (p.Leu571Phe)
c.1441C>T (p.Leu481Phe)
c.1618C>T (p.Leu540Phe)
c.1411+581C>T (n.1411+581C>T)
c.485+18613G>A (n.485+18613G>A)
c.1288C>T (p.Leu430Phe)
c.1603C>T (p.Leu535Phe)
c.1558C>T (p.Leu520Phe)
c.1465C>T (p.Leu489Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.36222792G>CCA373426072CLTA,GNEc.1711C>G (p.Leu571Val)
c.1441C>G (p.Leu481Val)
c.1618C>G (p.Leu540Val)
c.1411+581C>G (n.1411+581C>G)
c.485+18613G>C (n.485+18613G>C)
c.1288C>G (p.Leu430Val)
c.1603C>G (p.Leu535Val)
c.1558C>G (p.Leu520Val)
c.1465C>G (p.Leu489Val)
9g.36222792G=CA1846333252CLTA,GNEc.1711C= (p.Leu571=)
c.1441C= (p.Leu481=)
c.1618C= (p.Leu540=)
c.1411+581C= (n.1411+581C=)
c.485+18613G= (n.485+18613G=)
c.1288C= (p.Leu430=)
c.1603C= (p.Leu535=)
c.1558C= (p.Leu520=)
c.1465C= (p.Leu489=)
9g.36222792G>TCA373426074CLTA,GNEc.1711C>A (p.Leu571Ile)
c.1441C>A (p.Leu481Ile)
c.1618C>A (p.Leu540Ile)
c.1411+581C>A (n.1411+581C>A)
c.485+18613G>T (n.485+18613G>T)
c.1288C>A (p.Leu430Ile)
c.1603C>A (p.Leu535Ile)
c.1558C>A (p.Leu520Ile)
c.1465C>A (p.Leu489Ile)
9g.36222793T>ACA464495153CLTA,GNEc.1710A>T (p.Thr570=)
c.1440A>T (p.Thr480=)
c.1617A>T (p.Thr539=)
c.1411+580A>T (n.1411+580A>T)
c.485+18614T>A (n.485+18614T>A)
c.1287A>T (p.Thr429=)
c.1602A>T (p.Thr534=)
c.1557A>T (p.Thr519=)
c.1464A>T (p.Thr488=)
9g.36222793T>CCA464495154CLTA,GNEc.1710A>G (p.Thr570=)
c.1440A>G (p.Thr480=)
c.1617A>G (p.Thr539=)
c.1411+580A>G (n.1411+580A>G)
c.485+18614T>C (n.485+18614T>C)
c.1287A>G (p.Thr429=)
c.1602A>G (p.Thr534=)
c.1557A>G (p.Thr519=)
c.1464A>G (p.Thr488=)
 dbSNP gnomAD v2 gnomAD v4
9g.36222793T>GCA464495155CLTA,GNEc.1710A>C (p.Thr570=)
c.1440A>C (p.Thr480=)
c.1617A>C (p.Thr539=)
c.1411+580A>C (n.1411+580A>C)
c.485+18614T>G (n.485+18614T>G)
c.1287A>C (p.Thr429=)
c.1602A>C (p.Thr534=)
c.1557A>C (p.Thr519=)
c.1464A>C (p.Thr488=)
9g.36222793T=CA1846333265CLTA,GNEc.1710A= (p.Thr570=)
c.1440A= (p.Thr480=)
c.1617A= (p.Thr539=)
c.1411+580A= (n.1411+580A=)
c.485+18614T= (n.485+18614T=)
c.1287A= (p.Thr429=)
c.1602A= (p.Thr534=)
c.1557A= (p.Thr519=)
c.1464A= (p.Thr488=)
9g.36222793_36222801delinsTGTAACAAACA1846333262CLTA,GNEc.1702_1710delinsTTTGTTACA (p.Phe568=)
c.1432_1440delinsTTTGTTACA (p.Phe478=)
c.1609_1617delinsTTTGTTACA (p.Phe537=)
c.1411+572_1411+580delinsTTTGTTACA (n.1411+572_1411+580delinsTTTGTTACA)
c.485+18614_485+18622delinsTGTAACAAA (n.485+18614_485+18622delinsTGTAACAAA)
c.1279_1287delinsTTTGTTACA (p.Phe427=)
c.1594_1602delinsTTTGTTACA (p.Phe532=)
c.1549_1557delinsTTTGTTACA (p.Phe517=)
c.1456_1464delinsTTTGTTACA (p.Phe486=)
9g.36222794delCA2689945655CLTA,GNEc.1709del (p.Thr570AsnfsTer18)
c.1439del (p.Thr480AsnfsTer18)
c.1616del (p.Thr539AsnfsTer18)
c.1411+579del (n.1411+579del)
c.485+18615del (n.485+18615del)
c.1286del (p.Thr429AsnfsTer18)
c.1601del (p.Thr534AsnfsTer18)
c.1556del (p.Thr519AsnfsTer18)
c.1463del (p.Thr488AsnfsTer18)
 gnomAD v4
9g.36222794G>ACA373426076CLTA,GNEc.1709C>T (p.Thr570Ile)
c.1439C>T (p.Thr480Ile)
c.1616C>T (p.Thr539Ile)
c.1411+579C>T (n.1411+579C>T)
c.485+18615G>A (n.485+18615G>A)
c.1286C>T (p.Thr429Ile)
c.1601C>T (p.Thr534Ile)
c.1556C>T (p.Thr519Ile)
c.1463C>T (p.Thr488Ile)
 ClinVar
9g.36222794G>CCA373426077CLTA,GNEc.1709C>G (p.Thr570Arg)
c.1439C>G (p.Thr480Arg)
c.1616C>G (p.Thr539Arg)
c.1411+579C>G (n.1411+579C>G)
c.485+18615G>C (n.485+18615G>C)
c.1286C>G (p.Thr429Arg)
c.1601C>G (p.Thr534Arg)
c.1556C>G (p.Thr519Arg)
c.1463C>G (p.Thr488Arg)
9g.36222794G>TCA373426079CLTA,GNEc.1709C>A (p.Thr570Lys)
c.1439C>A (p.Thr480Lys)
c.1616C>A (p.Thr539Lys)
c.1411+579C>A (n.1411+579C>A)
c.485+18615G>T (n.485+18615G>T)
c.1286C>A (p.Thr429Lys)
c.1601C>A (p.Thr534Lys)
c.1556C>A (p.Thr519Lys)
c.1463C>A (p.Thr488Lys)
9g.36222796_36222803delCA16041310CLTA,GNEc.1702_1709del (p.Phe568ThrfsTer16)
c.1432_1439del (p.Phe478ThrfsTer16)
c.1609_1616del (p.Phe537ThrfsTer16)
c.1411+572_1411+579del (n.1411+572_1411+579del)
c.485+18617_485+18624del (n.485+18617_485+18624del)
c.1279_1286del (p.Phe427ThrfsTer16)
c.1594_1601del (p.Phe532ThrfsTer16)
c.1549_1556del (p.Phe517ThrfsTer16)
c.1456_1463del (p.Phe486ThrfsTer16)
 ClinVar dbSNP gnomAD v4
9g.36222795T>ACA373426081CLTA,GNEc.1708A>T (p.Thr570Ser)
c.1438A>T (p.Thr480Ser)
c.1615A>T (p.Thr539Ser)
c.1411+578A>T (n.1411+578A>T)
c.485+18616T>A (n.485+18616T>A)
c.1285A>T (p.Thr429Ser)
c.1600A>T (p.Thr534Ser)
c.1555A>T (p.Thr519Ser)
c.1462A>T (p.Thr488Ser)
9g.36222795T>CCA373426084CLTA,GNEc.1708A>G (p.Thr570Ala)
c.1438A>G (p.Thr480Ala)
c.1615A>G (p.Thr539Ala)
c.1411+578A>G (n.1411+578A>G)
c.485+18616T>C (n.485+18616T>C)
c.1285A>G (p.Thr429Ala)
c.1600A>G (p.Thr534Ala)
c.1555A>G (p.Thr519Ala)
c.1462A>G (p.Thr488Ala)

Number of alleles fetched