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.36219872_36219873delinsCACA1846328489CLTA,GNEc.1874_1875delinsTG (p.Met625=)
c.1604_1605delinsTG (p.Met535=)
c.1781_1782delinsTG (p.Met594=)
c.1559_1560delinsTG (p.Met520=)
c.485+15693_485+15694delinsCA (n.485+15693_485+15694delinsCA)
c.1451_1452delinsTG (p.Met484=)
c.1766_1767delinsTG (p.Met589=)
c.1721_1722delinsTG (p.Met574=)
c.1628_1629delinsTG (p.Met543=)
9g.36219873delCA16041309CLTA,GNEc.1874del (p.Met625ArgfsTer?)
c.1604del (p.Met535ArgfsTer?)
c.1781del (p.Met594ArgfsTer?)
c.1559del (p.Met520ArgfsTer?)
c.485+15694del (n.485+15694del)
c.1451del (p.Met484ArgfsTer?)
c.1766del (p.Met589ArgfsTer?)
c.1721del (p.Met574ArgfsTer?)
c.1628del (p.Met543ArgfsTer?)
ClinVar dbSNP
9g.36219873A=CA1846328501CLTA,GNEc.1874T= (p.Met625=)
c.1604T= (p.Met535=)
c.1781T= (p.Met594=)
c.1559T= (p.Met520=)
c.485+15694A= (n.485+15694A=)
c.1451T= (p.Met484=)
c.1766T= (p.Met589=)
c.1721T= (p.Met574=)
c.1628T= (p.Met543=)
9g.36219873A>CCA373425541CLTA,GNEc.1874T>G (p.Met625Arg)
c.1604T>G (p.Met535Arg)
c.1781T>G (p.Met594Arg)
c.1559T>G (p.Met520Arg)
c.485+15694A>C (n.485+15694A>C)
c.1451T>G (p.Met484Arg)
c.1766T>G (p.Met589Arg)
c.1721T>G (p.Met574Arg)
c.1628T>G (p.Met543Arg)
9g.36219873A>GCA373425542CLTA,GNEc.1874T>C (p.Met625Thr)
c.1604T>C (p.Met535Thr)
c.1781T>C (p.Met594Thr)
c.1559T>C (p.Met520Thr)
c.485+15694A>G (n.485+15694A>G)
c.1451T>C (p.Met484Thr)
c.1766T>C (p.Met589Thr)
c.1721T>C (p.Met574Thr)
c.1628T>C (p.Met543Thr)
dbSNP gnomAD v2
9g.36219873A>TCA373425543CLTA,GNEc.1874T>A (p.Met625Lys)
c.1604T>A (p.Met535Lys)
c.1781T>A (p.Met594Lys)
c.1559T>A (p.Met520Lys)
c.485+15694A>T (n.485+15694A>T)
c.1451T>A (p.Met484Lys)
c.1766T>A (p.Met589Lys)
c.1721T>A (p.Met574Lys)
c.1628T>A (p.Met543Lys)
9g.36219874T>ACA373425544CLTA,GNEc.1873A>T (p.Met625Leu)
c.1603A>T (p.Met535Leu)
c.1780A>T (p.Met594Leu)
c.1558A>T (p.Met520Leu)
c.485+15695T>A (n.485+15695T>A)
c.1450A>T (p.Met484Leu)
c.1765A>T (p.Met589Leu)
c.1720A>T (p.Met574Leu)
c.1627A>T (p.Met543Leu)
9g.36219874T>CCA373425545CLTA,GNEc.1873A>G (p.Met625Val)
c.1603A>G (p.Met535Val)
c.1780A>G (p.Met594Val)
c.1558A>G (p.Met520Val)
c.485+15695T>C (n.485+15695T>C)
c.1450A>G (p.Met484Val)
c.1765A>G (p.Met589Val)
c.1720A>G (p.Met574Val)
c.1627A>G (p.Met543Val)
9g.36219874T>GCA373425546CLTA,GNEc.1873A>C (p.Met625Leu)
c.1603A>C (p.Met535Leu)
c.1780A>C (p.Met594Leu)
c.1558A>C (p.Met520Leu)
c.485+15695T>G (n.485+15695T>G)
c.1450A>C (p.Met484Leu)
c.1765A>C (p.Met589Leu)
c.1720A>C (p.Met574Leu)
c.1627A>C (p.Met543Leu)
9g.36219875T>ACA464494945CLTA,GNEc.1872A>T (p.Gly624=)
c.1602A>T (p.Gly534=)
c.1779A>T (p.Gly593=)
c.1557A>T (p.Gly519=)
c.485+15696T>A (n.485+15696T>A)
c.1449A>T (p.Gly483=)
c.1764A>T (p.Gly588=)
c.1719A>T (p.Gly573=)
c.1626A>T (p.Gly542=)
9g.36219875T>CCA5056428CLTA,GNEc.1872A>G (p.Gly624=)
c.1602A>G (p.Gly534=)
c.1779A>G (p.Gly593=)
c.1557A>G (p.Gly519=)
c.485+15696T>C (n.485+15696T>C)
c.1449A>G (p.Gly483=)
c.1764A>G (p.Gly588=)
c.1719A>G (p.Gly573=)
c.1626A>G (p.Gly542=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219875T>GCA464494946CLTA,GNEc.1872A>C (p.Gly624=)
c.1602A>C (p.Gly534=)
c.1779A>C (p.Gly593=)
c.1557A>C (p.Gly519=)
c.485+15696T>G (n.485+15696T>G)
c.1449A>C (p.Gly483=)
c.1764A>C (p.Gly588=)
c.1719A>C (p.Gly573=)
c.1626A>C (p.Gly542=)
9g.36219875T=CA1846328510CLTA,GNEc.1872A= (p.Gly624=)
c.1602A= (p.Gly534=)
c.1779A= (p.Gly593=)
c.1557A= (p.Gly519=)
c.485+15696T= (n.485+15696T=)
c.1449A= (p.Gly483=)
c.1764A= (p.Gly588=)
c.1719A= (p.Gly573=)
c.1626A= (p.Gly542=)
9g.36219876C>ACA373425549CLTA,GNEc.1871G>T (p.Gly624Val)
c.1601G>T (p.Gly534Val)
c.1778G>T (p.Gly593Val)
c.1556G>T (p.Gly519Val)
c.485+15697C>A (n.485+15697C>A)
c.1448G>T (p.Gly483Val)
c.1763G>T (p.Gly588Val)
c.1718G>T (p.Gly573Val)
c.1625G>T (p.Gly542Val)
9g.36219876C>GCA373425548CLTA,GNEc.1871G>C (p.Gly624Ala)
c.1601G>C (p.Gly534Ala)
c.1778G>C (p.Gly593Ala)
c.1556G>C (p.Gly519Ala)
c.485+15697C>G (n.485+15697C>G)
c.1448G>C (p.Gly483Ala)
c.1763G>C (p.Gly588Ala)
c.1718G>C (p.Gly573Ala)
c.1625G>C (p.Gly542Ala)
9g.36219876C>TCA373425547CLTA,GNEc.1871G>A (p.Gly624Glu)
c.1601G>A (p.Gly534Glu)
c.1778G>A (p.Gly593Glu)
c.1556G>A (p.Gly519Glu)
c.485+15697C>T (n.485+15697C>T)
c.1448G>A (p.Gly483Glu)
c.1763G>A (p.Gly588Glu)
c.1718G>A (p.Gly573Glu)
c.1625G>A (p.Gly542Glu)
9g.36219877C>ACA373425550CLTA,GNEc.1870G>T (p.Gly624Ter)
c.1600G>T (p.Gly534Ter)
c.1777G>T (p.Gly593Ter)
c.1555G>T (p.Gly519Ter)
c.485+15698C>A (n.485+15698C>A)
c.1447G>T (p.Gly483Ter)
c.1762G>T (p.Gly588Ter)
c.1717G>T (p.Gly573Ter)
c.1624G>T (p.Gly542Ter)
9g.36219877C>GCA373425551CLTA,GNEc.1870G>C (p.Gly624Arg)
c.1600G>C (p.Gly534Arg)
c.1777G>C (p.Gly593Arg)
c.1555G>C (p.Gly519Arg)
c.485+15698C>G (n.485+15698C>G)
c.1447G>C (p.Gly483Arg)
c.1762G>C (p.Gly588Arg)
c.1717G>C (p.Gly573Arg)
c.1624G>C (p.Gly542Arg)
9g.36219877C>TCA373425552CLTA,GNEc.1870G>A (p.Gly624Arg)
c.1600G>A (p.Gly534Arg)
c.1777G>A (p.Gly593Arg)
c.1555G>A (p.Gly519Arg)
c.485+15698C>T (n.485+15698C>T)
c.1447G>A (p.Gly483Arg)
c.1762G>A (p.Gly588Arg)
c.1717G>A (p.Gly573Arg)
c.1624G>A (p.Gly542Arg)
9g.36219878A>CCA464494947CLTA,GNEc.1869T>G (p.Ser623=)
c.1599T>G (p.Ser533=)
c.1776T>G (p.Ser592=)
c.1554T>G (p.Ser518=)
c.485+15699A>C (n.485+15699A>C)
c.1446T>G (p.Ser482=)
c.1761T>G (p.Ser587=)
c.1716T>G (p.Ser572=)
c.1623T>G (p.Ser541=)
9g.36219878A>GCA464494948CLTA,GNEc.1869T>C (p.Ser623=)
c.1599T>C (p.Ser533=)
c.1776T>C (p.Ser592=)
c.1554T>C (p.Ser518=)
c.485+15699A>G (n.485+15699A>G)
c.1446T>C (p.Ser482=)
c.1761T>C (p.Ser587=)
c.1716T>C (p.Ser572=)
c.1623T>C (p.Ser541=)
9g.36219878A>TCA464494949CLTA,GNEc.1869T>A (p.Ser623=)
c.1599T>A (p.Ser533=)
c.1776T>A (p.Ser592=)
c.1554T>A (p.Ser518=)
c.485+15699A>T (n.485+15699A>T)
c.1446T>A (p.Ser482=)
c.1761T>A (p.Ser587=)
c.1716T>A (p.Ser572=)
c.1623T>A (p.Ser541=)
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

Number of alleles fetched