Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36219867_36219879delinsAAGGCCATTCCAGCA1846328470CLTA,GNEc.1868_1880delinsCTGGAATGGCCTT (p.Ser623=)
c.1598_1610delinsCTGGAATGGCCTT (p.Ser533=)
c.1775_1787delinsCTGGAATGGCCTT (p.Ser592=)
c.1553_1565delinsCTGGAATGGCCTT (p.Ser518=)
c.485+15688_485+15700delinsAAGGCCATTCCAG (n.485+15688_485+15700delinsAAGGCCATTCCAG)
c.1445_1457delinsCTGGAATGGCCTT (p.Ser482=)
c.1760_1772delinsCTGGAATGGCCTT (p.Ser587=)
c.1715_1727delinsCTGGAATGGCCTT (p.Ser572=)
c.1622_1634delinsCTGGAATGGCCTT (p.Ser541=)
9g.36219872_36219883delCA1139660951CLTA,GNEc.1868_1879del (p.Ser623_Ala626del)
c.1598_1609del (p.Ser533_Ala536del)
c.1775_1786del (p.Ser592_Ala595del)
c.1553_1564del (p.Ser518_Ala521del)
c.485+15693_485+15704del (n.485+15693_485+15704del)
c.1445_1456del (p.Ser482_Ala485del)
c.1760_1771del (p.Ser587_Ala590del)
c.1715_1726del (p.Ser572_Ala575del)
c.1622_1633del (p.Ser541_Ala544del)
 ClinVar dbSNP
9g.36219879G>ACA373425553CLTA,GNEc.1868C>T (p.Ser623Phe)
c.1598C>T (p.Ser533Phe)
c.1775C>T (p.Ser592Phe)
c.1553C>T (p.Ser518Phe)
c.485+15700G>A (n.485+15700G>A)
c.1445C>T (p.Ser482Phe)
c.1760C>T (p.Ser587Phe)
c.1715C>T (p.Ser572Phe)
c.1622C>T (p.Ser541Phe)
9g.36219879G>CCA373425554CLTA,GNEc.1868C>G (p.Ser623Cys)
c.1598C>G (p.Ser533Cys)
c.1775C>G (p.Ser592Cys)
c.1553C>G (p.Ser518Cys)
c.485+15700G>C (n.485+15700G>C)
c.1445C>G (p.Ser482Cys)
c.1760C>G (p.Ser587Cys)
c.1715C>G (p.Ser572Cys)
c.1622C>G (p.Ser541Cys)
9g.36219879G>TCA373425555CLTA,GNEc.1868C>A (p.Ser623Tyr)
c.1598C>A (p.Ser533Tyr)
c.1775C>A (p.Ser592Tyr)
c.1553C>A (p.Ser518Tyr)
c.485+15700G>T (n.485+15700G>T)
c.1445C>A (p.Ser482Tyr)
c.1760C>A (p.Ser587Tyr)
c.1715C>A (p.Ser572Tyr)
c.1622C>A (p.Ser541Tyr)
 gnomAD v4
9g.36219880A>CCA373425556CLTA,GNEc.1867T>G (p.Ser623Ala)
c.1597T>G (p.Ser533Ala)
c.1774T>G (p.Ser592Ala)
c.1552T>G (p.Ser518Ala)
c.485+15701A>C (n.485+15701A>C)
c.1444T>G (p.Ser482Ala)
c.1759T>G (p.Ser587Ala)
c.1714T>G (p.Ser572Ala)
c.1621T>G (p.Ser541Ala)
9g.36219880A>GCA373425557CLTA,GNEc.1867T>C (p.Ser623Pro)
c.1597T>C (p.Ser533Pro)
c.1774T>C (p.Ser592Pro)
c.1552T>C (p.Ser518Pro)
c.485+15701A>G (n.485+15701A>G)
c.1444T>C (p.Ser482Pro)
c.1759T>C (p.Ser587Pro)
c.1714T>C (p.Ser572Pro)
c.1621T>C (p.Ser541Pro)
9g.36219880A>TCA373425558CLTA,GNEc.1867T>A (p.Ser623Thr)
c.1597T>A (p.Ser533Thr)
c.1774T>A (p.Ser592Thr)
c.1552T>A (p.Ser518Thr)
c.485+15701A>T (n.485+15701A>T)
c.1444T>A (p.Ser482Thr)
c.1759T>A (p.Ser587Thr)
c.1714T>A (p.Ser572Thr)
c.1621T>A (p.Ser541Thr)
 COSMIC COSMIC COSMIC
9g.36219881G>ACA464494950CLTA,GNEc.1866C>T (p.Ala622=)
c.1596C>T (p.Ala532=)
c.1773C>T (p.Ala591=)
c.1551C>T (p.Ala517=)
c.485+15702G>A (n.485+15702G>A)
c.1443C>T (p.Ala481=)
c.1758C>T (p.Ala586=)
c.1713C>T (p.Ala571=)
c.1620C>T (p.Ala540=)
 dbSNP gnomAD v4
9g.36219881G>CCA464494951CLTA,GNEc.1866C>G (p.Ala622=)
c.1596C>G (p.Ala532=)
c.1773C>G (p.Ala591=)
c.1551C>G (p.Ala517=)
c.485+15702G>C (n.485+15702G>C)
c.1443C>G (p.Ala481=)
c.1758C>G (p.Ala586=)
c.1713C>G (p.Ala571=)
c.1620C>G (p.Ala540=)
9g.36219881G=CA1846328516CLTA,GNEc.1866C= (p.Ala622=)
c.1596C= (p.Ala532=)
c.1773C= (p.Ala591=)
c.1551C= (p.Ala517=)
c.485+15702G= (n.485+15702G=)
c.1443C= (p.Ala481=)
c.1758C= (p.Ala586=)
c.1713C= (p.Ala571=)
c.1620C= (p.Ala540=)
9g.36219881G>TCA464494952CLTA,GNEc.1866C>A (p.Ala622=)
c.1596C>A (p.Ala532=)
c.1773C>A (p.Ala591=)
c.1551C>A (p.Ala517=)
c.485+15702G>T (n.485+15702G>T)
c.1443C>A (p.Ala481=)
c.1758C>A (p.Ala586=)
c.1713C>A (p.Ala571=)
c.1620C>A (p.Ala540=)
9g.36219882G>ACA373425559CLTA,GNEc.1865C>T (p.Ala622Val)
c.1595C>T (p.Ala532Val)
c.1772C>T (p.Ala591Val)
c.1550C>T (p.Ala517Val)
c.485+15703G>A (n.485+15703G>A)
c.1442C>T (p.Ala481Val)
c.1757C>T (p.Ala586Val)
c.1712C>T (p.Ala571Val)
c.1619C>T (p.Ala540Val)
 ClinVar
9g.36219882G>CCA373425560CLTA,GNEc.1865C>G (p.Ala622Gly)
c.1595C>G (p.Ala532Gly)
c.1772C>G (p.Ala591Gly)
c.1550C>G (p.Ala517Gly)
c.485+15703G>C (n.485+15703G>C)
c.1442C>G (p.Ala481Gly)
c.1757C>G (p.Ala586Gly)
c.1712C>G (p.Ala571Gly)
c.1619C>G (p.Ala540Gly)
9g.36219882G>TCA373425561CLTA,GNEc.1865C>A (p.Ala622Asp)
c.1595C>A (p.Ala532Asp)
c.1772C>A (p.Ala591Asp)
c.1550C>A (p.Ala517Asp)
c.485+15703G>T (n.485+15703G>T)
c.1442C>A (p.Ala481Asp)
c.1757C>A (p.Ala586Asp)
c.1712C>A (p.Ala571Asp)
c.1619C>A (p.Ala540Asp)
9g.36219883C>ACA373425563CLTA,GNEc.1864G>T (p.Ala622Ser)
c.1594G>T (p.Ala532Ser)
c.1771G>T (p.Ala591Ser)
c.1549G>T (p.Ala517Ser)
c.485+15704C>A (n.485+15704C>A)
c.1441G>T (p.Ala481Ser)
c.1756G>T (p.Ala586Ser)
c.1711G>T (p.Ala571Ser)
c.1618G>T (p.Ala540Ser)
9g.36219883C=CA1846328525CLTA,GNEc.1864G= (p.Ala622=)
c.1594G= (p.Ala532=)
c.1771G= (p.Ala591=)
c.1549G= (p.Ala517=)
c.485+15704C= (n.485+15704C=)
c.1441G= (p.Ala481=)
c.1756G= (p.Ala586=)
c.1711G= (p.Ala571=)
c.1618G= (p.Ala540=)
9g.36219883C>GCA373425562CLTA,GNEc.1864G>C (p.Ala622Pro)
c.1594G>C (p.Ala532Pro)
c.1771G>C (p.Ala591Pro)
c.1549G>C (p.Ala517Pro)
c.485+15704C>G (n.485+15704C>G)
c.1441G>C (p.Ala481Pro)
c.1756G>C (p.Ala586Pro)
c.1711G>C (p.Ala571Pro)
c.1618G>C (p.Ala540Pro)
9g.36219883C>TCA5056429CLTA,GNEc.1864G>A (p.Ala622Thr)
c.1594G>A (p.Ala532Thr)
c.1771G>A (p.Ala591Thr)
c.1549G>A (p.Ala517Thr)
c.485+15704C>T (n.485+15704C>T)
c.1441G>A (p.Ala481Thr)
c.1756G>A (p.Ala586Thr)
c.1711G>A (p.Ala571Thr)
c.1618G>A (p.Ala540Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36219884G>ACA148383CLTA,GNEc.1863C>T (p.Tyr621=)
c.1593C>T (p.Tyr531=)
c.1770C>T (p.Tyr590=)
c.1548C>T (p.Tyr516=)
c.485+15705G>A (n.485+15705G>A)
c.1440C>T (p.Tyr480=)
c.1755C>T (p.Tyr585=)
c.1710C>T (p.Tyr570=)
c.1617C>T (p.Tyr539=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219884G>CCA373425564CLTA,GNEc.1863C>G (p.Tyr621Ter)
c.1593C>G (p.Tyr531Ter)
c.1770C>G (p.Tyr590Ter)
c.1548C>G (p.Tyr516Ter)
c.485+15705G>C (n.485+15705G>C)
c.1440C>G (p.Tyr480Ter)
c.1755C>G (p.Tyr585Ter)
c.1710C>G (p.Tyr570Ter)
c.1617C>G (p.Tyr539Ter)
9g.36219884G=CA1846328550CLTA,GNEc.1863C= (p.Tyr621=)
c.1593C= (p.Tyr531=)
c.1770C= (p.Tyr590=)
c.1548C= (p.Tyr516=)
c.485+15705G= (n.485+15705G=)
c.1440C= (p.Tyr480=)
c.1755C= (p.Tyr585=)
c.1710C= (p.Tyr570=)
c.1617C= (p.Tyr539=)
9g.36219884G>TCA373425565CLTA,GNEc.1863C>A (p.Tyr621Ter)
c.1593C>A (p.Tyr531Ter)
c.1770C>A (p.Tyr590Ter)
c.1548C>A (p.Tyr516Ter)
c.485+15705G>T (n.485+15705G>T)
c.1440C>A (p.Tyr480Ter)
c.1755C>A (p.Tyr585Ter)
c.1710C>A (p.Tyr570Ter)
c.1617C>A (p.Tyr539Ter)
 ClinVar dbSNP gnomAD v4
9g.36219885T>ACA373425566CLTA,GNEc.1862A>T (p.Tyr621Phe)
c.1592A>T (p.Tyr531Phe)
c.1769A>T (p.Tyr590Phe)
c.1547A>T (p.Tyr516Phe)
c.485+15706T>A (n.485+15706T>A)
c.1439A>T (p.Tyr480Phe)
c.1754A>T (p.Tyr585Phe)
c.1709A>T (p.Tyr570Phe)
c.1616A>T (p.Tyr539Phe)
9g.36219885T>CCA373425567CLTA,GNEc.1862A>G (p.Tyr621Cys)
c.1592A>G (p.Tyr531Cys)
c.1769A>G (p.Tyr590Cys)
c.1547A>G (p.Tyr516Cys)
c.485+15706T>C (n.485+15706T>C)
c.1439A>G (p.Tyr480Cys)
c.1754A>G (p.Tyr585Cys)
c.1709A>G (p.Tyr570Cys)
c.1616A>G (p.Tyr539Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36219885T>GCA373425568CLTA,GNEc.1862A>C (p.Tyr621Ser)
c.1592A>C (p.Tyr531Ser)
c.1769A>C (p.Tyr590Ser)
c.1547A>C (p.Tyr516Ser)
c.485+15706T>G (n.485+15706T>G)
c.1439A>C (p.Tyr480Ser)
c.1754A>C (p.Tyr585Ser)
c.1709A>C (p.Tyr570Ser)
c.1616A>C (p.Tyr539Ser)
9g.36219885T=CA1846328563CLTA,GNEc.1862A= (p.Tyr621=)
c.1592A= (p.Tyr531=)
c.1769A= (p.Tyr590=)
c.1547A= (p.Tyr516=)
c.485+15706T= (n.485+15706T=)
c.1439A= (p.Tyr480=)
c.1754A= (p.Tyr585=)
c.1709A= (p.Tyr570=)
c.1616A= (p.Tyr539=)
9g.36219886A>CCA373425569CLTA,GNEc.1861T>G (p.Tyr621Asp)
c.1591T>G (p.Tyr531Asp)
c.1768T>G (p.Tyr590Asp)
c.1546T>G (p.Tyr516Asp)
c.485+15707A>C (n.485+15707A>C)
c.1438T>G (p.Tyr480Asp)
c.1753T>G (p.Tyr585Asp)
c.1708T>G (p.Tyr570Asp)
c.1615T>G (p.Tyr539Asp)
 COSMIC COSMIC COSMIC
9g.36219886A>GCA373425570CLTA,GNEc.1861T>C (p.Tyr621His)
c.1591T>C (p.Tyr531His)
c.1768T>C (p.Tyr590His)
c.1546T>C (p.Tyr516His)
c.485+15707A>G (n.485+15707A>G)
c.1438T>C (p.Tyr480His)
c.1753T>C (p.Tyr585His)
c.1708T>C (p.Tyr570His)
c.1615T>C (p.Tyr539His)
 dbSNP
9g.36219886A>TCA373425571CLTA,GNEc.1861T>A (p.Tyr621Asn)
c.1591T>A (p.Tyr531Asn)
c.1768T>A (p.Tyr590Asn)
c.1546T>A (p.Tyr516Asn)
c.485+15707A>T (n.485+15707A>T)
c.1438T>A (p.Tyr480Asn)
c.1753T>A (p.Tyr585Asn)
c.1708T>A (p.Tyr570Asn)
c.1615T>A (p.Tyr539Asn)
9g.36219887T>ACA464494954CLTA,GNEc.1860A>T (p.Ala620=)
c.1590A>T (p.Ala530=)
c.1767A>T (p.Ala589=)
c.1545A>T (p.Ala515=)
c.485+15708T>A (n.485+15708T>A)
c.1437A>T (p.Ala479=)
c.1752A>T (p.Ala584=)
c.1707A>T (p.Ala569=)
c.1614A>T (p.Ala538=)
 ClinVar
9g.36219887T>CCA5056430CLTA,GNEc.1860A>G (p.Ala620=)
c.1590A>G (p.Ala530=)
c.1767A>G (p.Ala589=)
c.1545A>G (p.Ala515=)
c.485+15708T>C (n.485+15708T>C)
c.1437A>G (p.Ala479=)
c.1752A>G (p.Ala584=)
c.1707A>G (p.Ala569=)
c.1614A>G (p.Ala538=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219887T>GCA464494953CLTA,GNEc.1860A>C (p.Ala620=)
c.1590A>C (p.Ala530=)
c.1767A>C (p.Ala589=)
c.1545A>C (p.Ala515=)
c.485+15708T>G (n.485+15708T>G)
c.1437A>C (p.Ala479=)
c.1752A>C (p.Ala584=)
c.1707A>C (p.Ala569=)
c.1614A>C (p.Ala538=)
9g.36219887T=CA1846328571CLTA,GNEc.1860A= (p.Ala620=)
c.1590A= (p.Ala530=)
c.1767A= (p.Ala589=)
c.1545A= (p.Ala515=)
c.485+15708T= (n.485+15708T=)
c.1437A= (p.Ala479=)
c.1752A= (p.Ala584=)
c.1707A= (p.Ala569=)
c.1614A= (p.Ala538=)
9g.36219888G>ACA373425572CLTA,GNEc.1859C>T (p.Ala620Val)
c.1589C>T (p.Ala530Val)
c.1766C>T (p.Ala589Val)
c.1544C>T (p.Ala515Val)
c.485+15709G>A (n.485+15709G>A)
c.1436C>T (p.Ala479Val)
c.1751C>T (p.Ala584Val)
c.1706C>T (p.Ala569Val)
c.1613C>T (p.Ala538Val)
9g.36219888G>CCA373425573CLTA,GNEc.1859C>G (p.Ala620Gly)
c.1589C>G (p.Ala530Gly)
c.1766C>G (p.Ala589Gly)
c.1544C>G (p.Ala515Gly)
c.485+15709G>C (n.485+15709G>C)
c.1436C>G (p.Ala479Gly)
c.1751C>G (p.Ala584Gly)
c.1706C>G (p.Ala569Gly)
c.1613C>G (p.Ala538Gly)
 gnomAD v4
9g.36219888G>TCA373425574CLTA,GNEc.1859C>A (p.Ala620Glu)
c.1589C>A (p.Ala530Glu)
c.1766C>A (p.Ala589Glu)
c.1544C>A (p.Ala515Glu)
c.485+15709G>T (n.485+15709G>T)
c.1436C>A (p.Ala479Glu)
c.1751C>A (p.Ala584Glu)
c.1706C>A (p.Ala569Glu)
c.1613C>A (p.Ala538Glu)
9g.36219889C>ACA373425577CLTA,GNEc.1858G>T (p.Ala620Ser)
c.1588G>T (p.Ala530Ser)
c.1765G>T (p.Ala589Ser)
c.1543G>T (p.Ala515Ser)
c.485+15710C>A (n.485+15710C>A)
c.1435G>T (p.Ala479Ser)
c.1750G>T (p.Ala584Ser)
c.1705G>T (p.Ala569Ser)
c.1612G>T (p.Ala538Ser)
9g.36219889C>GCA373425575CLTA,GNEc.1858G>C (p.Ala620Pro)
c.1588G>C (p.Ala530Pro)
c.1765G>C (p.Ala589Pro)
c.1543G>C (p.Ala515Pro)
c.485+15710C>G (n.485+15710C>G)
c.1435G>C (p.Ala479Pro)
c.1750G>C (p.Ala584Pro)
c.1705G>C (p.Ala569Pro)
c.1612G>C (p.Ala538Pro)
9g.36219889C>TCA373425576CLTA,GNEc.1858G>A (p.Ala620Thr)
c.1588G>A (p.Ala530Thr)
c.1765G>A (p.Ala589Thr)
c.1543G>A (p.Ala515Thr)
c.485+15710C>T (n.485+15710C>T)
c.1435G>A (p.Ala479Thr)
c.1750G>A (p.Ala584Thr)
c.1705G>A (p.Ala569Thr)
c.1612G>A (p.Ala538Thr)
9g.36219890T>ACA373425578CLTA,GNEc.1857A>T (p.Glu619Asp)
c.1587A>T (p.Glu529Asp)
c.1764A>T (p.Glu588Asp)
c.1542A>T (p.Glu514Asp)
c.485+15711T>A (n.485+15711T>A)
c.1434A>T (p.Glu478Asp)
c.1749A>T (p.Glu583Asp)
c.1704A>T (p.Glu568Asp)
c.1611A>T (p.Glu537Asp)
9g.36219890T>CCA464494955CLTA,GNEc.1857A>G (p.Glu619=)
c.1587A>G (p.Glu529=)
c.1764A>G (p.Glu588=)
c.1542A>G (p.Glu514=)
c.485+15711T>C (n.485+15711T>C)
c.1434A>G (p.Glu478=)
c.1749A>G (p.Glu583=)
c.1704A>G (p.Glu568=)
c.1611A>G (p.Glu537=)
9g.36219890T>GCA373425579CLTA,GNEc.1857A>C (p.Glu619Asp)
c.1587A>C (p.Glu529Asp)
c.1764A>C (p.Glu588Asp)
c.1542A>C (p.Glu514Asp)
c.485+15711T>G (n.485+15711T>G)
c.1434A>C (p.Glu478Asp)
c.1749A>C (p.Glu583Asp)
c.1704A>C (p.Glu568Asp)
c.1611A>C (p.Glu537Asp)
9g.36219891T>ACA373425580CLTA,GNEc.1856A>T (p.Glu619Val)
c.1586A>T (p.Glu529Val)
c.1763A>T (p.Glu588Val)
c.1541A>T (p.Glu514Val)
c.485+15712T>A (n.485+15712T>A)
c.1433A>T (p.Glu478Val)
c.1748A>T (p.Glu583Val)
c.1703A>T (p.Glu568Val)
c.1610A>T (p.Glu537Val)
9g.36219891T>CCA373425581CLTA,GNEc.1856A>G (p.Glu619Gly)
c.1586A>G (p.Glu529Gly)
c.1763A>G (p.Glu588Gly)
c.1541A>G (p.Glu514Gly)
c.485+15712T>C (n.485+15712T>C)
c.1433A>G (p.Glu478Gly)
c.1748A>G (p.Glu583Gly)
c.1703A>G (p.Glu568Gly)
c.1610A>G (p.Glu537Gly)
9g.36219891T>GCA373425582CLTA,GNEc.1856A>C (p.Glu619Ala)
c.1586A>C (p.Glu529Ala)
c.1763A>C (p.Glu588Ala)
c.1541A>C (p.Glu514Ala)
c.485+15712T>G (n.485+15712T>G)
c.1433A>C (p.Glu478Ala)
c.1748A>C (p.Glu583Ala)
c.1703A>C (p.Glu568Ala)
c.1610A>C (p.Glu537Ala)
9g.36219892C>ACA373425583CLTA,GNEc.1855G>T (p.Glu619Ter)
c.1585G>T (p.Glu529Ter)
c.1762G>T (p.Glu588Ter)
c.1540G>T (p.Glu514Ter)
c.485+15713C>A (n.485+15713C>A)
c.1432G>T (p.Glu478Ter)
c.1747G>T (p.Glu583Ter)
c.1702G>T (p.Glu568Ter)
c.1609G>T (p.Glu537Ter)
9g.36219892C>GCA373425584CLTA,GNEc.1855G>C (p.Glu619Gln)
c.1585G>C (p.Glu529Gln)
c.1762G>C (p.Glu588Gln)
c.1540G>C (p.Glu514Gln)
c.485+15713C>G (n.485+15713C>G)
c.1432G>C (p.Glu478Gln)
c.1747G>C (p.Glu583Gln)
c.1702G>C (p.Glu568Gln)
c.1609G>C (p.Glu537Gln)
9g.36219892C>TCA373425585CLTA,GNEc.1855G>A (p.Glu619Lys)
c.1585G>A (p.Glu529Lys)
c.1762G>A (p.Glu588Lys)
c.1540G>A (p.Glu514Lys)
c.485+15713C>T (n.485+15713C>T)
c.1432G>A (p.Glu478Lys)
c.1747G>A (p.Glu583Lys)
c.1702G>A (p.Glu568Lys)
c.1609G>A (p.Glu537Lys)
 ClinVar dbSNP
9g.36219893A>CCA373425586CLTA,GNEc.1854T>G (p.Ile618Met)
c.1584T>G (p.Ile528Met)
c.1761T>G (p.Ile587Met)
c.1539T>G (p.Ile513Met)
c.485+15714A>C (n.485+15714A>C)
c.1431T>G (p.Ile477Met)
c.1746T>G (p.Ile582Met)
c.1701T>G (p.Ile567Met)
c.1608T>G (p.Ile536Met)

Number of alleles fetched