Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22262136T>ACA473407211ANO5c.1188T>A (p.Pro396=)
c.1596T>A (p.Pro532=)
n.2632T>A
c.1593T>A (p.Pro531=)
c.1638T>A (p.Pro546=)
n.1973T>A
c.1635T>A (p.Pro545=)
c.1560T>A (p.Pro520=)
c.1557T>A (p.Pro519=)
c.1545T>A (p.Pro515=)
11g.22262136T>CCA473407212ANO5c.1188T>C (p.Pro396=)
c.1596T>C (p.Pro532=)
n.2632T>C
c.1593T>C (p.Pro531=)
c.1638T>C (p.Pro546=)
n.1973T>C
c.1635T>C (p.Pro545=)
c.1560T>C (p.Pro520=)
c.1557T>C (p.Pro519=)
c.1545T>C (p.Pro515=)
11g.22262136T>GCA473407213ANO5c.1188T>G (p.Pro396=)
c.1596T>G (p.Pro532=)
n.2632T>G
c.1593T>G (p.Pro531=)
c.1638T>G (p.Pro546=)
n.1973T>G
c.1635T>G (p.Pro545=)
c.1560T>G (p.Pro520=)
c.1557T>G (p.Pro519=)
c.1545T>G (p.Pro515=)
11g.22262137C>ACA473407214ANO5c.1189C>A (p.Arg397=)
c.1597C>A (p.Arg533=)
n.2633C>A
c.1594C>A (p.Arg532=)
c.1639C>A (p.Arg547=)
n.1974C>A
c.1636C>A (p.Arg546=)
c.1561C>A (p.Arg521=)
c.1558C>A (p.Arg520=)
c.1546C>A (p.Arg516=)
 dbSNP gnomAD v3 gnomAD v4
11g.22262137C=CA1957419809ANO5c.1189C= (p.Arg397=)
c.1597C= (p.Arg533=)
n.2633C=
c.1594C= (p.Arg532=)
c.1639C= (p.Arg547=)
n.1974C=
c.1636C= (p.Arg546=)
c.1561C= (p.Arg521=)
c.1558C= (p.Arg520=)
c.1546C= (p.Arg516=)
11g.22262137C>GCA379922485ANO5c.1189C>G (p.Arg397Gly)
c.1597C>G (p.Arg533Gly)
n.2633C>G
c.1594C>G (p.Arg532Gly)
c.1639C>G (p.Arg547Gly)
n.1974C>G
c.1636C>G (p.Arg546Gly)
c.1561C>G (p.Arg521Gly)
c.1558C>G (p.Arg520Gly)
c.1546C>G (p.Arg516Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22262137C>TCA5923315ANO5c.1189C>T (p.Arg397Ter)
c.1597C>T (p.Arg533Ter)
n.2633C>T
c.1594C>T (p.Arg532Ter)
c.1639C>T (p.Arg547Ter)
n.1974C>T
c.1636C>T (p.Arg546Ter)
c.1561C>T (p.Arg521Ter)
c.1558C>T (p.Arg520Ter)
c.1546C>T (p.Arg516Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.22262138G>ACA5923316ANO5c.1190G>A (p.Arg397Gln)
c.1598G>A (p.Arg533Gln)
n.2634G>A
c.1595G>A (p.Arg532Gln)
c.1640G>A (p.Arg547Gln)
n.1975G>A
c.1637G>A (p.Arg546Gln)
c.1562G>A (p.Arg521Gln)
c.1559G>A (p.Arg520Gln)
c.1547G>A (p.Arg516Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262138G>CCA379922487ANO5c.1190G>C (p.Arg397Pro)
c.1598G>C (p.Arg533Pro)
n.2634G>C
c.1595G>C (p.Arg532Pro)
c.1640G>C (p.Arg547Pro)
n.1975G>C
c.1637G>C (p.Arg546Pro)
c.1562G>C (p.Arg521Pro)
c.1559G>C (p.Arg520Pro)
c.1547G>C (p.Arg516Pro)
11g.22262138G=CA1957419810ANO5c.1190G= (p.Arg397=)
c.1598G= (p.Arg533=)
n.2634G=
c.1595G= (p.Arg532=)
c.1640G= (p.Arg547=)
n.1975G=
c.1637G= (p.Arg546=)
c.1562G= (p.Arg521=)
c.1559G= (p.Arg520=)
c.1547G= (p.Arg516=)
11g.22262138G>TCA379922486ANO5c.1190G>T (p.Arg397Leu)
c.1598G>T (p.Arg533Leu)
n.2634G>T
c.1595G>T (p.Arg532Leu)
c.1640G>T (p.Arg547Leu)
n.1975G>T
c.1637G>T (p.Arg546Leu)
c.1562G>T (p.Arg521Leu)
c.1559G>T (p.Arg520Leu)
c.1547G>T (p.Arg516Leu)
 gnomAD v4
11g.22262139A=CA1957419811ANO5c.1191A= (p.Arg397=)
c.1599A= (p.Arg533=)
n.2635A=
c.1596A= (p.Arg532=)
c.1641A= (p.Arg547=)
n.1976A=
c.1638A= (p.Arg546=)
c.1563A= (p.Arg521=)
c.1560A= (p.Arg520=)
c.1548A= (p.Arg516=)
11g.22262139A>CCA10630613ANO5c.1191A>C (p.Arg397=)
c.1599A>C (p.Arg533=)
n.2635A>C
c.1596A>C (p.Arg532=)
c.1641A>C (p.Arg547=)
n.1976A>C
c.1638A>C (p.Arg546=)
c.1563A>C (p.Arg521=)
c.1560A>C (p.Arg520=)
c.1548A>C (p.Arg516=)
 ClinVar dbSNP
11g.22262139A>GCA473407215ANO5c.1191A>G (p.Arg397=)
c.1599A>G (p.Arg533=)
n.2635A>G
c.1596A>G (p.Arg532=)
c.1641A>G (p.Arg547=)
n.1976A>G
c.1638A>G (p.Arg546=)
c.1563A>G (p.Arg521=)
c.1560A>G (p.Arg520=)
c.1548A>G (p.Arg516=)
11g.22262139A>TCA473407216ANO5c.1191A>T (p.Arg397=)
c.1599A>T (p.Arg533=)
n.2635A>T
c.1596A>T (p.Arg532=)
c.1641A>T (p.Arg547=)
n.1976A>T
c.1638A>T (p.Arg546=)
c.1563A>T (p.Arg521=)
c.1560A>T (p.Arg520=)
c.1548A>T (p.Arg516=)
11g.22262140A>CCA379922488ANO5c.1192A>C (p.Thr398Pro)
c.1600A>C (p.Thr534Pro)
n.2636A>C
c.1597A>C (p.Thr533Pro)
c.1642A>C (p.Thr548Pro)
n.1977A>C
c.1639A>C (p.Thr547Pro)
c.1564A>C (p.Thr522Pro)
c.1561A>C (p.Thr521Pro)
c.1549A>C (p.Thr517Pro)
11g.22262140A>GCA379922489ANO5c.1192A>G (p.Thr398Ala)
c.1600A>G (p.Thr534Ala)
n.2636A>G
c.1597A>G (p.Thr533Ala)
c.1642A>G (p.Thr548Ala)
n.1977A>G
c.1639A>G (p.Thr547Ala)
c.1564A>G (p.Thr522Ala)
c.1561A>G (p.Thr521Ala)
c.1549A>G (p.Thr517Ala)
11g.22262140A>TCA379922490ANO5c.1192A>T (p.Thr398Ser)
c.1600A>T (p.Thr534Ser)
n.2636A>T
c.1597A>T (p.Thr533Ser)
c.1642A>T (p.Thr548Ser)
n.1977A>T
c.1639A>T (p.Thr547Ser)
c.1564A>T (p.Thr522Ser)
c.1561A>T (p.Thr521Ser)
c.1549A>T (p.Thr517Ser)
11g.22262141C>ACA379922491ANO5c.1193C>A (p.Thr398Lys)
c.1601C>A (p.Thr534Lys)
n.2637C>A
c.1598C>A (p.Thr533Lys)
c.1643C>A (p.Thr548Lys)
n.1978C>A
c.1640C>A (p.Thr547Lys)
c.1565C>A (p.Thr522Lys)
c.1562C>A (p.Thr521Lys)
c.1550C>A (p.Thr517Lys)
11g.22262141C=CA1957419812ANO5c.1193C= (p.Thr398=)
c.1601C= (p.Thr534=)
n.2637C=
c.1598C= (p.Thr533=)
c.1643C= (p.Thr548=)
n.1978C=
c.1640C= (p.Thr547=)
c.1565C= (p.Thr522=)
c.1562C= (p.Thr521=)
c.1550C= (p.Thr517=)
11g.22262141C>GCA379922492ANO5c.1193C>G (p.Thr398Arg)
c.1601C>G (p.Thr534Arg)
n.2637C>G
c.1598C>G (p.Thr533Arg)
c.1643C>G (p.Thr548Arg)
n.1978C>G
c.1640C>G (p.Thr547Arg)
c.1565C>G (p.Thr522Arg)
c.1562C>G (p.Thr521Arg)
c.1550C>G (p.Thr517Arg)
11g.22262141C>TCA218767930ANO5c.1193C>T (p.Thr398Ile)
c.1601C>T (p.Thr534Ile)
n.2637C>T
c.1598C>T (p.Thr533Ile)
c.1643C>T (p.Thr548Ile)
n.1978C>T
c.1640C>T (p.Thr547Ile)
c.1565C>T (p.Thr522Ile)
c.1562C>T (p.Thr521Ile)
c.1550C>T (p.Thr517Ile)
 dbSNP
11g.22262142A=CA1957419813ANO5c.1194A= (p.Thr398=)
c.1602A= (p.Thr534=)
n.2638A=
c.1599A= (p.Thr533=)
c.1644A= (p.Thr548=)
n.1979A=
c.1641A= (p.Thr547=)
c.1566A= (p.Thr522=)
c.1563A= (p.Thr521=)
c.1551A= (p.Thr517=)
11g.22262142A>CCA473407218ANO5c.1194A>C (p.Thr398=)
c.1602A>C (p.Thr534=)
n.2638A>C
c.1599A>C (p.Thr533=)
c.1644A>C (p.Thr548=)
n.1979A>C
c.1641A>C (p.Thr547=)
c.1566A>C (p.Thr522=)
c.1563A>C (p.Thr521=)
c.1551A>C (p.Thr517=)
11g.22262142A>GCA473407219ANO5c.1194A>G (p.Thr398=)
c.1602A>G (p.Thr534=)
n.2638A>G
c.1599A>G (p.Thr533=)
c.1644A>G (p.Thr548=)
n.1979A>G
c.1641A>G (p.Thr547=)
c.1566A>G (p.Thr522=)
c.1563A>G (p.Thr521=)
c.1551A>G (p.Thr517=)
 dbSNP gnomAD v3 gnomAD v4
11g.22262142A>TCA473407220ANO5c.1194A>T (p.Thr398=)
c.1602A>T (p.Thr534=)
n.2638A>T
c.1599A>T (p.Thr533=)
c.1644A>T (p.Thr548=)
n.1979A>T
c.1641A>T (p.Thr547=)
c.1566A>T (p.Thr522=)
c.1563A>T (p.Thr521=)
c.1551A>T (p.Thr517=)
11g.22262143T>ACA379922495ANO5c.1195T>A (p.Tyr399Asn)
c.1603T>A (p.Tyr535Asn)
n.2639T>A
c.1600T>A (p.Tyr534Asn)
c.1645T>A (p.Tyr549Asn)
n.1980T>A
c.1642T>A (p.Tyr548Asn)
c.1567T>A (p.Tyr523Asn)
c.1564T>A (p.Tyr522Asn)
c.1552T>A (p.Tyr518Asn)
11g.22262143T>CCA379922493ANO5c.1195T>C (p.Tyr399His)
c.1603T>C (p.Tyr535His)
n.2639T>C
c.1600T>C (p.Tyr534His)
c.1645T>C (p.Tyr549His)
n.1980T>C
c.1642T>C (p.Tyr548His)
c.1567T>C (p.Tyr523His)
c.1564T>C (p.Tyr522His)
c.1552T>C (p.Tyr518His)
11g.22262143T>GCA379922494ANO5c.1195T>G (p.Tyr399Asp)
c.1603T>G (p.Tyr535Asp)
n.2639T>G
c.1600T>G (p.Tyr534Asp)
c.1645T>G (p.Tyr549Asp)
n.1980T>G
c.1642T>G (p.Tyr548Asp)
c.1567T>G (p.Tyr523Asp)
c.1564T>G (p.Tyr522Asp)
c.1552T>G (p.Tyr518Asp)
11g.22262144A>CCA379922496ANO5c.1196A>C (p.Tyr399Ser)
c.1604A>C (p.Tyr535Ser)
n.2640A>C
c.1601A>C (p.Tyr534Ser)
c.1646A>C (p.Tyr549Ser)
n.1981A>C
c.1643A>C (p.Tyr548Ser)
c.1568A>C (p.Tyr523Ser)
c.1565A>C (p.Tyr522Ser)
c.1553A>C (p.Tyr518Ser)
11g.22262144A>GCA379922497ANO5c.1196A>G (p.Tyr399Cys)
c.1604A>G (p.Tyr535Cys)
n.2640A>G
c.1601A>G (p.Tyr534Cys)
c.1646A>G (p.Tyr549Cys)
n.1981A>G
c.1643A>G (p.Tyr548Cys)
c.1568A>G (p.Tyr523Cys)
c.1565A>G (p.Tyr522Cys)
c.1553A>G (p.Tyr518Cys)
11g.22262144A>TCA379922498ANO5c.1196A>T (p.Tyr399Phe)
c.1604A>T (p.Tyr535Phe)
n.2640A>T
c.1601A>T (p.Tyr534Phe)
c.1646A>T (p.Tyr549Phe)
n.1981A>T
c.1643A>T (p.Tyr548Phe)
c.1568A>T (p.Tyr523Phe)
c.1565A>T (p.Tyr522Phe)
c.1553A>T (p.Tyr518Phe)
11g.22262145C>ACA379922499ANO5c.1197C>A (p.Tyr399Ter)
c.1605C>A (p.Tyr535Ter)
n.2641C>A
c.1602C>A (p.Tyr534Ter)
c.1647C>A (p.Tyr549Ter)
n.1982C>A
c.1644C>A (p.Tyr548Ter)
c.1569C>A (p.Tyr523Ter)
c.1566C>A (p.Tyr522Ter)
c.1554C>A (p.Tyr518Ter)
11g.22262145C>GCA379922500ANO5c.1197C>G (p.Tyr399Ter)
c.1605C>G (p.Tyr535Ter)
n.2641C>G
c.1602C>G (p.Tyr534Ter)
c.1647C>G (p.Tyr549Ter)
n.1982C>G
c.1644C>G (p.Tyr548Ter)
c.1569C>G (p.Tyr523Ter)
c.1566C>G (p.Tyr522Ter)
c.1554C>G (p.Tyr518Ter)
11g.22262145C>TCA473407221ANO5c.1197C>T (p.Tyr399=)
c.1605C>T (p.Tyr535=)
n.2641C>T
c.1602C>T (p.Tyr534=)
c.1647C>T (p.Tyr549=)
n.1982C>T
c.1644C>T (p.Tyr548=)
c.1569C>T (p.Tyr523=)
c.1566C>T (p.Tyr522=)
c.1554C>T (p.Tyr518=)
 gnomAD v4
11g.22262146C>ACA379922503ANO5c.1198C>A (p.Gln400Lys)
c.1606C>A (p.Gln536Lys)
n.2642C>A
c.1603C>A (p.Gln535Lys)
c.1648C>A (p.Gln550Lys)
n.1983C>A
c.1645C>A (p.Gln549Lys)
c.1570C>A (p.Gln524Lys)
c.1567C>A (p.Gln523Lys)
c.1555C>A (p.Gln519Lys)
 ClinVar dbSNP
11g.22262146C=CA1957419814ANO5c.1198C= (p.Gln400=)
c.1606C= (p.Gln536=)
n.2642C=
c.1603C= (p.Gln535=)
c.1648C= (p.Gln550=)
n.1983C=
c.1645C= (p.Gln549=)
c.1570C= (p.Gln524=)
c.1567C= (p.Gln523=)
c.1555C= (p.Gln519=)
11g.22262146C>GCA379922501ANO5c.1198C>G (p.Gln400Glu)
c.1606C>G (p.Gln536Glu)
n.2642C>G
c.1603C>G (p.Gln535Glu)
c.1648C>G (p.Gln550Glu)
n.1983C>G
c.1645C>G (p.Gln549Glu)
c.1570C>G (p.Gln524Glu)
c.1567C>G (p.Gln523Glu)
c.1555C>G (p.Gln519Glu)
11g.22262146C>TCA379922502ANO5c.1198C>T (p.Gln400Ter)
c.1606C>T (p.Gln536Ter)
n.2642C>T
c.1603C>T (p.Gln535Ter)
c.1648C>T (p.Gln550Ter)
n.1983C>T
c.1645C>T (p.Gln549Ter)
c.1570C>T (p.Gln524Ter)
c.1567C>T (p.Gln523Ter)
c.1555C>T (p.Gln519Ter)
 dbSNP
11g.22262147A>CCA379922504ANO5c.1199A>C (p.Gln400Pro)
c.1607A>C (p.Gln536Pro)
n.2643A>C
c.1604A>C (p.Gln535Pro)
c.1649A>C (p.Gln550Pro)
n.1984A>C
c.1646A>C (p.Gln549Pro)
c.1571A>C (p.Gln524Pro)
c.1568A>C (p.Gln523Pro)
c.1556A>C (p.Gln519Pro)
11g.22262147A>GCA379922505ANO5c.1199A>G (p.Gln400Arg)
c.1607A>G (p.Gln536Arg)
n.2643A>G
c.1604A>G (p.Gln535Arg)
c.1649A>G (p.Gln550Arg)
n.1984A>G
c.1646A>G (p.Gln549Arg)
c.1571A>G (p.Gln524Arg)
c.1568A>G (p.Gln523Arg)
c.1556A>G (p.Gln519Arg)
 ClinVar gnomAD v4
11g.22262147A>TCA379922506ANO5c.1199A>T (p.Gln400Leu)
c.1607A>T (p.Gln536Leu)
n.2643A>T
c.1604A>T (p.Gln535Leu)
c.1649A>T (p.Gln550Leu)
n.1984A>T
c.1646A>T (p.Gln549Leu)
c.1571A>T (p.Gln524Leu)
c.1568A>T (p.Gln523Leu)
c.1556A>T (p.Gln519Leu)
11g.22262148G>ACA473407222ANO5c.1200G>A (p.Gln400=)
c.1608G>A (p.Gln536=)
n.2644G>A
c.1605G>A (p.Gln535=)
c.1650G>A (p.Gln550=)
n.1985G>A
c.1647G>A (p.Gln549=)
c.1572G>A (p.Gln524=)
c.1569G>A (p.Gln523=)
c.1557G>A (p.Gln519=)
11g.22262148G>CCA379922507ANO5c.1200G>C (p.Gln400His)
c.1608G>C (p.Gln536His)
n.2644G>C
c.1605G>C (p.Gln535His)
c.1650G>C (p.Gln550His)
n.1985G>C
c.1647G>C (p.Gln549His)
c.1572G>C (p.Gln524His)
c.1569G>C (p.Gln523His)
c.1557G>C (p.Gln519His)
11g.22262148G>TCA379922508ANO5c.1200G>T (p.Gln400His)
c.1608G>T (p.Gln536His)
n.2644G>T
c.1605G>T (p.Gln535His)
c.1650G>T (p.Gln550His)
n.1985G>T
c.1647G>T (p.Gln549His)
c.1572G>T (p.Gln524His)
c.1569G>T (p.Gln523His)
c.1557G>T (p.Gln519His)
11g.22262149G>ACA379922509ANO5c.1201G>A (p.Glu401Lys)
c.1609G>A (p.Glu537Lys)
n.2645G>A
c.1606G>A (p.Glu536Lys)
c.1651G>A (p.Glu551Lys)
n.1986G>A
c.1648G>A (p.Glu550Lys)
c.1573G>A (p.Glu525Lys)
c.1570G>A (p.Glu524Lys)
c.1558G>A (p.Glu520Lys)
11g.22262149G>CCA379922510ANO5c.1201G>C (p.Glu401Gln)
c.1609G>C (p.Glu537Gln)
n.2645G>C
c.1606G>C (p.Glu536Gln)
c.1651G>C (p.Glu551Gln)
n.1986G>C
c.1648G>C (p.Glu550Gln)
c.1573G>C (p.Glu525Gln)
c.1570G>C (p.Glu524Gln)
c.1558G>C (p.Glu520Gln)
11g.22262149G>TCA379922511ANO5c.1201G>T (p.Glu401Ter)
c.1609G>T (p.Glu537Ter)
n.2645G>T
c.1606G>T (p.Glu536Ter)
c.1651G>T (p.Glu551Ter)
n.1986G>T
c.1648G>T (p.Glu550Ter)
c.1573G>T (p.Glu525Ter)
c.1570G>T (p.Glu524Ter)
c.1558G>T (p.Glu520Ter)
11g.22262150A>CCA379922512ANO5c.1202A>C (p.Glu401Ala)
c.1610A>C (p.Glu537Ala)
n.2646A>C
c.1607A>C (p.Glu536Ala)
c.1652A>C (p.Glu551Ala)
n.1987A>C
c.1649A>C (p.Glu550Ala)
c.1574A>C (p.Glu525Ala)
c.1571A>C (p.Glu524Ala)
c.1559A>C (p.Glu520Ala)
11g.22262150A>GCA379922513ANO5c.1202A>G (p.Glu401Gly)
c.1610A>G (p.Glu537Gly)
n.2646A>G
c.1607A>G (p.Glu536Gly)
c.1652A>G (p.Glu551Gly)
n.1987A>G
c.1649A>G (p.Glu550Gly)
c.1574A>G (p.Glu525Gly)
c.1571A>G (p.Glu524Gly)
c.1559A>G (p.Glu520Gly)
11g.22262150A>TCA379922514ANO5c.1202A>T (p.Glu401Val)
c.1610A>T (p.Glu537Val)
n.2646A>T
c.1607A>T (p.Glu536Val)
c.1652A>T (p.Glu551Val)
n.1987A>T
c.1649A>T (p.Glu550Val)
c.1574A>T (p.Glu525Val)
c.1571A>T (p.Glu524Val)
c.1559A>T (p.Glu520Val)
11g.22262151G>ACA473407223ANO5c.1203G>A (p.Glu401=)
c.1611G>A (p.Glu537=)
n.2647G>A
c.1608G>A (p.Glu536=)
c.1653G>A (p.Glu551=)
n.1988G>A
c.1650G>A (p.Glu550=)
c.1575G>A (p.Glu525=)
c.1572G>A (p.Glu524=)
c.1560G>A (p.Glu520=)
 ClinVar dbSNP
11g.22262151G>CCA379922515ANO5c.1203G>C (p.Glu401Asp)
c.1611G>C (p.Glu537Asp)
n.2647G>C
c.1608G>C (p.Glu536Asp)
c.1653G>C (p.Glu551Asp)
n.1988G>C
c.1650G>C (p.Glu550Asp)
c.1575G>C (p.Glu525Asp)
c.1572G>C (p.Glu524Asp)
c.1560G>C (p.Glu520Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22262151G=CA1957419815ANO5c.1203G= (p.Glu401=)
c.1611G= (p.Glu537=)
n.2647G=
c.1608G= (p.Glu536=)
c.1653G= (p.Glu551=)
n.1988G=
c.1650G= (p.Glu550=)
c.1575G= (p.Glu525=)
c.1572G= (p.Glu524=)
c.1560G= (p.Glu520=)
11g.22262151G>TCA379922516ANO5c.1203G>T (p.Glu401Asp)
c.1611G>T (p.Glu537Asp)
n.2647G>T
c.1608G>T (p.Glu536Asp)
c.1653G>T (p.Glu551Asp)
n.1988G>T
c.1650G>T (p.Glu550Asp)
c.1575G>T (p.Glu525Asp)
c.1572G>T (p.Glu524Asp)
c.1560G>T (p.Glu520Asp)
11g.22262152T>ACA379922517ANO5c.1204T>A (p.Tyr402Asn)
c.1612T>A (p.Tyr538Asn)
n.2648T>A
c.1609T>A (p.Tyr537Asn)
c.1654T>A (p.Tyr552Asn)
n.1989T>A
c.1651T>A (p.Tyr551Asn)
c.1576T>A (p.Tyr526Asn)
c.1573T>A (p.Tyr525Asn)
c.1561T>A (p.Tyr521Asn)
11g.22262152T>CCA379922519ANO5c.1204T>C (p.Tyr402His)
c.1612T>C (p.Tyr538His)
n.2648T>C
c.1609T>C (p.Tyr537His)
c.1654T>C (p.Tyr552His)
n.1989T>C
c.1651T>C (p.Tyr551His)
c.1576T>C (p.Tyr526His)
c.1573T>C (p.Tyr525His)
c.1561T>C (p.Tyr521His)
 dbSNP gnomAD v2 gnomAD v4
11g.22262152T>GCA379922518ANO5c.1204T>G (p.Tyr402Asp)
c.1612T>G (p.Tyr538Asp)
n.2648T>G
c.1609T>G (p.Tyr537Asp)
c.1654T>G (p.Tyr552Asp)
n.1989T>G
c.1651T>G (p.Tyr551Asp)
c.1576T>G (p.Tyr526Asp)
c.1573T>G (p.Tyr525Asp)
c.1561T>G (p.Tyr521Asp)
11g.22262152T=CA1957419816ANO5c.1204T= (p.Tyr402=)
c.1612T= (p.Tyr538=)
n.2648T=
c.1609T= (p.Tyr537=)
c.1654T= (p.Tyr552=)
n.1989T=
c.1651T= (p.Tyr551=)
c.1576T= (p.Tyr526=)
c.1573T= (p.Tyr525=)
c.1561T= (p.Tyr521=)
11g.22262153A>CCA379922520ANO5c.1205A>C (p.Tyr402Ser)
c.1613A>C (p.Tyr538Ser)
n.2649A>C
c.1610A>C (p.Tyr537Ser)
c.1655A>C (p.Tyr552Ser)
n.1990A>C
c.1652A>C (p.Tyr551Ser)
c.1577A>C (p.Tyr526Ser)
c.1574A>C (p.Tyr525Ser)
c.1562A>C (p.Tyr521Ser)
11g.22262153A>GCA379922521ANO5c.1205A>G (p.Tyr402Cys)
c.1613A>G (p.Tyr538Cys)
n.2649A>G
c.1610A>G (p.Tyr537Cys)
c.1655A>G (p.Tyr552Cys)
n.1990A>G
c.1652A>G (p.Tyr551Cys)
c.1577A>G (p.Tyr526Cys)
c.1574A>G (p.Tyr525Cys)
c.1562A>G (p.Tyr521Cys)
11g.22262153A>TCA379922522ANO5c.1205A>T (p.Tyr402Phe)
c.1613A>T (p.Tyr538Phe)
n.2649A>T
c.1610A>T (p.Tyr537Phe)
c.1655A>T (p.Tyr552Phe)
n.1990A>T
c.1652A>T (p.Tyr551Phe)
c.1577A>T (p.Tyr526Phe)
c.1574A>T (p.Tyr525Phe)
c.1562A>T (p.Tyr521Phe)
11g.22262154T>ACA379922523ANO5c.1206T>A (p.Tyr402Ter)
c.1614T>A (p.Tyr538Ter)
n.2650T>A
c.1611T>A (p.Tyr537Ter)
c.1656T>A (p.Tyr552Ter)
n.1991T>A
c.1653T>A (p.Tyr551Ter)
c.1578T>A (p.Tyr526Ter)
c.1575T>A (p.Tyr525Ter)
c.1563T>A (p.Tyr521Ter)
11g.22262154T>CCA473407224ANO5c.1206T>C (p.Tyr402=)
c.1614T>C (p.Tyr538=)
n.2650T>C
c.1611T>C (p.Tyr537=)
c.1656T>C (p.Tyr552=)
n.1991T>C
c.1653T>C (p.Tyr551=)
c.1578T>C (p.Tyr526=)
c.1575T>C (p.Tyr525=)
c.1563T>C (p.Tyr521=)
11g.22262154T>GCA379922524ANO5c.1206T>G (p.Tyr402Ter)
c.1614T>G (p.Tyr538Ter)
n.2650T>G
c.1611T>G (p.Tyr537Ter)
c.1656T>G (p.Tyr552Ter)
n.1991T>G
c.1653T>G (p.Tyr551Ter)
c.1578T>G (p.Tyr526Ter)
c.1575T>G (p.Tyr525Ter)
c.1563T>G (p.Tyr521Ter)
 ClinVar dbSNP gnomAD v4
11g.22262155G>ACA5923317ANO5c.1207G>A (p.Glu403Lys)
c.1615G>A (p.Glu539Lys)
n.2651G>A
c.1612G>A (p.Glu538Lys)
c.1657G>A (p.Glu553Lys)
n.1992G>A
c.1654G>A (p.Glu552Lys)
c.1579G>A (p.Glu527Lys)
c.1576G>A (p.Glu526Lys)
c.1564G>A (p.Glu522Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262155G>CCA379922525ANO5c.1207G>C (p.Glu403Gln)
c.1615G>C (p.Glu539Gln)
n.2651G>C
c.1612G>C (p.Glu538Gln)
c.1657G>C (p.Glu553Gln)
n.1992G>C
c.1654G>C (p.Glu552Gln)
c.1579G>C (p.Glu527Gln)
c.1576G>C (p.Glu526Gln)
c.1564G>C (p.Glu522Gln)
11g.22262155G=CA1957419817ANO5c.1207G= (p.Glu403=)
c.1615G= (p.Glu539=)
n.2651G=
c.1612G= (p.Glu538=)
c.1657G= (p.Glu553=)
n.1992G=
c.1654G= (p.Glu552=)
c.1579G= (p.Glu527=)
c.1576G= (p.Glu526=)
c.1564G= (p.Glu522=)
11g.22262155G>TCA379922526ANO5c.1207G>T (p.Glu403Ter)
c.1615G>T (p.Glu539Ter)
n.2651G>T
c.1612G>T (p.Glu538Ter)
c.1657G>T (p.Glu553Ter)
n.1992G>T
c.1654G>T (p.Glu552Ter)
c.1579G>T (p.Glu527Ter)
c.1576G>T (p.Glu526Ter)
c.1564G>T (p.Glu522Ter)
11g.22262156A>CCA379922527ANO5c.1208A>C (p.Glu403Ala)
c.1616A>C (p.Glu539Ala)
n.2652A>C
c.1613A>C (p.Glu538Ala)
c.1658A>C (p.Glu553Ala)
n.1993A>C
c.1655A>C (p.Glu552Ala)
c.1580A>C (p.Glu527Ala)
c.1577A>C (p.Glu526Ala)
c.1565A>C (p.Glu522Ala)
11g.22262156A>GCA379922528ANO5c.1208A>G (p.Glu403Gly)
c.1616A>G (p.Glu539Gly)
n.2652A>G
c.1613A>G (p.Glu538Gly)
c.1658A>G (p.Glu553Gly)
n.1993A>G
c.1655A>G (p.Glu552Gly)
c.1580A>G (p.Glu527Gly)
c.1577A>G (p.Glu526Gly)
c.1565A>G (p.Glu522Gly)
11g.22262156A>TCA379922529ANO5c.1208A>T (p.Glu403Val)
c.1616A>T (p.Glu539Val)
n.2652A>T
c.1613A>T (p.Glu538Val)
c.1658A>T (p.Glu553Val)
n.1993A>T
c.1655A>T (p.Glu552Val)
c.1580A>T (p.Glu527Val)
c.1577A>T (p.Glu526Val)
c.1565A>T (p.Glu522Val)
11g.22262157G>ACA473407225ANO5c.1209G>A (p.Glu403=)
c.1617G>A (p.Glu539=)
n.2653G>A
c.1614G>A (p.Glu538=)
c.1659G>A (p.Glu553=)
n.1994G>A
c.1656G>A (p.Glu552=)
c.1581G>A (p.Glu527=)
c.1578G>A (p.Glu526=)
c.1566G>A (p.Glu522=)
11g.22262157G>CCA379922530ANO5c.1209G>C (p.Glu403Asp)
c.1617G>C (p.Glu539Asp)
n.2653G>C
c.1614G>C (p.Glu538Asp)
c.1659G>C (p.Glu553Asp)
n.1994G>C
c.1656G>C (p.Glu552Asp)
c.1581G>C (p.Glu527Asp)
c.1578G>C (p.Glu526Asp)
c.1566G>C (p.Glu522Asp)
11g.22262157G>TCA379922531ANO5c.1209G>T (p.Glu403Asp)
c.1617G>T (p.Glu539Asp)
n.2653G>T
c.1614G>T (p.Glu538Asp)
c.1659G>T (p.Glu553Asp)
n.1994G>T
c.1656G>T (p.Glu552Asp)
c.1581G>T (p.Glu527Asp)
c.1578G>T (p.Glu526Asp)
c.1566G>T (p.Glu522Asp)
11g.22262158A>CCA379922532ANO5c.1210A>C (p.Ser404Arg)
c.1618A>C (p.Ser540Arg)
n.2654A>C
c.1615A>C (p.Ser539Arg)
c.1660A>C (p.Ser554Arg)
n.1995A>C
c.1657A>C (p.Ser553Arg)
c.1582A>C (p.Ser528Arg)
c.1579A>C (p.Ser527Arg)
c.1567A>C (p.Ser523Arg)
11g.22262158A>GCA379922534ANO5c.1210A>G (p.Ser404Gly)
c.1618A>G (p.Ser540Gly)
n.2654A>G
c.1615A>G (p.Ser539Gly)
c.1660A>G (p.Ser554Gly)
n.1995A>G
c.1657A>G (p.Ser553Gly)
c.1582A>G (p.Ser528Gly)
c.1579A>G (p.Ser527Gly)
c.1567A>G (p.Ser523Gly)
11g.22262158A>TCA379922533ANO5c.1210A>T (p.Ser404Cys)
c.1618A>T (p.Ser540Cys)
n.2654A>T
c.1615A>T (p.Ser539Cys)
c.1660A>T (p.Ser554Cys)
n.1995A>T
c.1657A>T (p.Ser553Cys)
c.1582A>T (p.Ser528Cys)
c.1579A>T (p.Ser527Cys)
c.1567A>T (p.Ser523Cys)
 gnomAD v4
11g.22262159G>ACA379922535ANO5c.1211G>A (p.Ser404Asn)
c.1619G>A (p.Ser540Asn)
n.2655G>A
c.1616G>A (p.Ser539Asn)
c.1661G>A (p.Ser554Asn)
n.1996G>A
c.1658G>A (p.Ser553Asn)
c.1583G>A (p.Ser528Asn)
c.1580G>A (p.Ser527Asn)
c.1568G>A (p.Ser523Asn)
11g.22262159G>CCA379922536ANO5c.1211G>C (p.Ser404Thr)
c.1619G>C (p.Ser540Thr)
n.2655G>C
c.1616G>C (p.Ser539Thr)
c.1661G>C (p.Ser554Thr)
n.1996G>C
c.1658G>C (p.Ser553Thr)
c.1583G>C (p.Ser528Thr)
c.1580G>C (p.Ser527Thr)
c.1568G>C (p.Ser523Thr)
11g.22262159G>TCA379922537ANO5c.1211G>T (p.Ser404Ile)
c.1619G>T (p.Ser540Ile)
n.2655G>T
c.1616G>T (p.Ser539Ile)
c.1661G>T (p.Ser554Ile)
n.1996G>T
c.1658G>T (p.Ser553Ile)
c.1583G>T (p.Ser528Ile)
c.1580G>T (p.Ser527Ile)
c.1568G>T (p.Ser523Ile)
11g.22262160C>ACA379922538ANO5c.1212C>A (p.Ser404Arg)
c.1620C>A (p.Ser540Arg)
n.2656C>A
c.1617C>A (p.Ser539Arg)
c.1662C>A (p.Ser554Arg)
n.1997C>A
c.1659C>A (p.Ser553Arg)
c.1584C>A (p.Ser528Arg)
c.1581C>A (p.Ser527Arg)
c.1569C>A (p.Ser523Arg)
11g.22262160C>GCA379922539ANO5c.1212C>G (p.Ser404Arg)
c.1620C>G (p.Ser540Arg)
n.2656C>G
c.1617C>G (p.Ser539Arg)
c.1662C>G (p.Ser554Arg)
n.1997C>G
c.1659C>G (p.Ser553Arg)
c.1584C>G (p.Ser528Arg)
c.1581C>G (p.Ser527Arg)
c.1569C>G (p.Ser523Arg)
11g.22262160C>TCA473407226ANO5c.1212C>T (p.Ser404=)
c.1620C>T (p.Ser540=)
n.2656C>T
c.1617C>T (p.Ser539=)
c.1662C>T (p.Ser554=)
n.1997C>T
c.1659C>T (p.Ser553=)
c.1584C>T (p.Ser528=)
c.1581C>T (p.Ser527=)
c.1569C>T (p.Ser523=)
11g.22262161A>CCA379922540ANO5c.1213A>C (p.Ser405Arg)
c.1621A>C (p.Ser541Arg)
n.2657A>C
c.1618A>C (p.Ser540Arg)
c.1663A>C (p.Ser555Arg)
n.1998A>C
c.1660A>C (p.Ser554Arg)
c.1585A>C (p.Ser529Arg)
c.1582A>C (p.Ser528Arg)
c.1570A>C (p.Ser524Arg)
11g.22262161A>GCA379922541ANO5c.1213A>G (p.Ser405Gly)
c.1621A>G (p.Ser541Gly)
n.2657A>G
c.1618A>G (p.Ser540Gly)
c.1663A>G (p.Ser555Gly)
n.1998A>G
c.1660A>G (p.Ser554Gly)
c.1585A>G (p.Ser529Gly)
c.1582A>G (p.Ser528Gly)
c.1570A>G (p.Ser524Gly)
11g.22262161A>TCA379922542ANO5c.1213A>T (p.Ser405Cys)
c.1621A>T (p.Ser541Cys)
n.2657A>T
c.1618A>T (p.Ser540Cys)
c.1663A>T (p.Ser555Cys)
n.1998A>T
c.1660A>T (p.Ser554Cys)
c.1585A>T (p.Ser529Cys)
c.1582A>T (p.Ser528Cys)
c.1570A>T (p.Ser524Cys)
11g.22262162G>ACA5923319ANO5c.1214G>A (p.Ser405Asn)
c.1622G>A (p.Ser541Asn)
n.2658G>A
c.1619G>A (p.Ser540Asn)
c.1664G>A (p.Ser555Asn)
n.1999G>A
c.1661G>A (p.Ser554Asn)
c.1586G>A (p.Ser529Asn)
c.1583G>A (p.Ser528Asn)
c.1571G>A (p.Ser524Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.22262162G>CCA379922543ANO5c.1214G>C (p.Ser405Thr)
c.1622G>C (p.Ser541Thr)
n.2658G>C
c.1619G>C (p.Ser540Thr)
c.1664G>C (p.Ser555Thr)
n.1999G>C
c.1661G>C (p.Ser554Thr)
c.1586G>C (p.Ser529Thr)
c.1583G>C (p.Ser528Thr)
c.1571G>C (p.Ser524Thr)
11g.22262162G=CA1957419818ANO5c.1214G= (p.Ser405=)
c.1622G= (p.Ser541=)
n.2658G=
c.1619G= (p.Ser540=)
c.1664G= (p.Ser555=)
n.1999G=
c.1661G= (p.Ser554=)
c.1586G= (p.Ser529=)
c.1583G= (p.Ser528=)
c.1571G= (p.Ser524=)
11g.22262162G>TCA5923318ANO5c.1214G>T (p.Ser405Ile)
c.1622G>T (p.Ser541Ile)
n.2658G>T
c.1619G>T (p.Ser540Ile)
c.1664G>T (p.Ser555Ile)
n.1999G>T
c.1661G>T (p.Ser554Ile)
c.1586G>T (p.Ser529Ile)
c.1583G>T (p.Ser528Ile)
c.1571G>T (p.Ser524Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262163T>ACA379922545ANO5c.1215T>A (p.Ser405Arg)
c.1623T>A (p.Ser541Arg)
n.2659T>A
c.1620T>A (p.Ser540Arg)
c.1665T>A (p.Ser555Arg)
n.2000T>A
c.1662T>A (p.Ser554Arg)
c.1587T>A (p.Ser529Arg)
c.1584T>A (p.Ser528Arg)
c.1572T>A (p.Ser524Arg)
 ClinVar dbSNP
11g.22262163T>CCA473407227ANO5c.1215T>C (p.Ser405=)
c.1623T>C (p.Ser541=)
n.2659T>C
c.1620T>C (p.Ser540=)
c.1665T>C (p.Ser555=)
n.2000T>C
c.1662T>C (p.Ser554=)
c.1587T>C (p.Ser529=)
c.1584T>C (p.Ser528=)
c.1572T>C (p.Ser524=)
11g.22262163T>GCA379922544ANO5c.1215T>G (p.Ser405Arg)
c.1623T>G (p.Ser541Arg)
n.2659T>G
c.1620T>G (p.Ser540Arg)
c.1665T>G (p.Ser555Arg)
n.2000T>G
c.1662T>G (p.Ser554Arg)
c.1587T>G (p.Ser529Arg)
c.1584T>G (p.Ser528Arg)
c.1572T>G (p.Ser524Arg)
11g.22262163T=CA1957419819ANO5c.1215T= (p.Ser405=)
c.1623T= (p.Ser541=)
n.2659T=
c.1620T= (p.Ser540=)
c.1665T= (p.Ser555=)
n.2000T=
c.1662T= (p.Ser554=)
c.1587T= (p.Ser529=)
c.1584T= (p.Ser528=)
c.1572T= (p.Ser524=)
11g.22262164C>ACA379922546ANO5c.1216C>A (p.Leu406Ile)
c.1624C>A (p.Leu542Ile)
n.2660C>A
c.1621C>A (p.Leu541Ile)
c.1666C>A (p.Leu556Ile)
n.2001C>A
c.1663C>A (p.Leu555Ile)
c.1588C>A (p.Leu530Ile)
c.1585C>A (p.Leu529Ile)
c.1573C>A (p.Leu525Ile)
11g.22262164C>GCA379922548ANO5c.1216C>G (p.Leu406Val)
c.1624C>G (p.Leu542Val)
n.2660C>G
c.1621C>G (p.Leu541Val)
c.1666C>G (p.Leu556Val)
n.2001C>G
c.1663C>G (p.Leu555Val)
c.1588C>G (p.Leu530Val)
c.1585C>G (p.Leu529Val)
c.1573C>G (p.Leu525Val)
11g.22262164C>TCA379922547ANO5c.1216C>T (p.Leu406Phe)
c.1624C>T (p.Leu542Phe)
n.2660C>T
c.1621C>T (p.Leu541Phe)
c.1666C>T (p.Leu556Phe)
n.2001C>T
c.1663C>T (p.Leu555Phe)
c.1588C>T (p.Leu530Phe)
c.1585C>T (p.Leu529Phe)
c.1573C>T (p.Leu525Phe)
11g.22262165T>ACA379922549ANO5c.1217T>A (p.Leu406His)
c.1625T>A (p.Leu542His)
n.2661T>A
c.1622T>A (p.Leu541His)
c.1667T>A (p.Leu556His)
n.2002T>A
c.1664T>A (p.Leu555His)
c.1589T>A (p.Leu530His)
c.1586T>A (p.Leu529His)
c.1574T>A (p.Leu525His)
11g.22262165T>CCA379922550ANO5c.1217T>C (p.Leu406Pro)
c.1625T>C (p.Leu542Pro)
n.2661T>C
c.1622T>C (p.Leu541Pro)
c.1667T>C (p.Leu556Pro)
n.2002T>C
c.1664T>C (p.Leu555Pro)
c.1589T>C (p.Leu530Pro)
c.1586T>C (p.Leu529Pro)
c.1574T>C (p.Leu525Pro)
11g.22262165T>GCA379922551ANO5c.1217T>G (p.Leu406Arg)
c.1625T>G (p.Leu542Arg)
n.2661T>G
c.1622T>G (p.Leu541Arg)
c.1667T>G (p.Leu556Arg)
n.2002T>G
c.1664T>G (p.Leu555Arg)
c.1589T>G (p.Leu530Arg)
c.1586T>G (p.Leu529Arg)
c.1574T>G (p.Leu525Arg)
11g.22262166T>ACA473407229ANO5c.1218T>A (p.Leu406=)
c.1626T>A (p.Leu542=)
n.2662T>A
c.1623T>A (p.Leu541=)
c.1668T>A (p.Leu556=)
n.2003T>A
c.1665T>A (p.Leu555=)
c.1590T>A (p.Leu530=)
c.1587T>A (p.Leu529=)
c.1575T>A (p.Leu525=)
11g.22262166T>CCA5923320ANO5c.1218T>C (p.Leu406=)
c.1626T>C (p.Leu542=)
n.2662T>C
c.1623T>C (p.Leu541=)
c.1668T>C (p.Leu556=)
n.2003T>C
c.1665T>C (p.Leu555=)
c.1590T>C (p.Leu530=)
c.1587T>C (p.Leu529=)
c.1575T>C (p.Leu525=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262166T>GCA473407228ANO5c.1218T>G (p.Leu406=)
c.1626T>G (p.Leu542=)
n.2662T>G
c.1623T>G (p.Leu541=)
c.1668T>G (p.Leu556=)
n.2003T>G
c.1665T>G (p.Leu555=)
c.1590T>G (p.Leu530=)
c.1587T>G (p.Leu529=)
c.1575T>G (p.Leu525=)
11g.22262166T=CA1957419820ANO5c.1218T= (p.Leu406=)
c.1626T= (p.Leu542=)
n.2662T=
c.1623T= (p.Leu541=)
c.1668T= (p.Leu556=)
n.2003T=
c.1665T= (p.Leu555=)
c.1590T= (p.Leu530=)
c.1587T= (p.Leu529=)
c.1575T= (p.Leu525=)
11g.22262167A=CA1957419821ANO5c.1219A= (p.Thr407=)
c.1627A= (p.Thr543=)
n.2663A=
c.1624A= (p.Thr542=)
c.1669A= (p.Thr557=)
n.2004A=
c.1666A= (p.Thr556=)
c.1591A= (p.Thr531=)
c.1588A= (p.Thr530=)
c.1576A= (p.Thr526=)
11g.22262167A>CCA379922552ANO5c.1219A>C (p.Thr407Pro)
c.1627A>C (p.Thr543Pro)
n.2663A>C
c.1624A>C (p.Thr542Pro)
c.1669A>C (p.Thr557Pro)
n.2004A>C
c.1666A>C (p.Thr556Pro)
c.1591A>C (p.Thr531Pro)
c.1588A>C (p.Thr530Pro)
c.1576A>C (p.Thr526Pro)
11g.22262167A>GCA379922553ANO5c.1219A>G (p.Thr407Ala)
c.1627A>G (p.Thr543Ala)
n.2663A>G
c.1624A>G (p.Thr542Ala)
c.1669A>G (p.Thr557Ala)
n.2004A>G
c.1666A>G (p.Thr556Ala)
c.1591A>G (p.Thr531Ala)
c.1588A>G (p.Thr530Ala)
c.1576A>G (p.Thr526Ala)
 dbSNP
11g.22262167A>TCA379922554ANO5c.1219A>T (p.Thr407Ser)
c.1627A>T (p.Thr543Ser)
n.2663A>T
c.1624A>T (p.Thr542Ser)
c.1669A>T (p.Thr557Ser)
n.2004A>T
c.1666A>T (p.Thr556Ser)
c.1591A>T (p.Thr531Ser)
c.1588A>T (p.Thr530Ser)
c.1576A>T (p.Thr526Ser)
11g.22262168C>ACA379922555ANO5c.1220C>A (p.Thr407Asn)
c.1628C>A (p.Thr543Asn)
n.2664C>A
c.1625C>A (p.Thr542Asn)
c.1670C>A (p.Thr557Asn)
n.2005C>A
c.1667C>A (p.Thr556Asn)
c.1592C>A (p.Thr531Asn)
c.1589C>A (p.Thr530Asn)
c.1577C>A (p.Thr526Asn)
 gnomAD v4
11g.22262168C=CA1957419822ANO5c.1220C= (p.Thr407=)
c.1628C= (p.Thr543=)
n.2664C=
c.1625C= (p.Thr542=)
c.1670C= (p.Thr557=)
n.2005C=
c.1667C= (p.Thr556=)
c.1592C= (p.Thr531=)
c.1589C= (p.Thr530=)
c.1577C= (p.Thr526=)
11g.22262168C>GCA379922556ANO5c.1220C>G (p.Thr407Ser)
c.1628C>G (p.Thr543Ser)
n.2664C>G
c.1625C>G (p.Thr542Ser)
c.1670C>G (p.Thr557Ser)
n.2005C>G
c.1667C>G (p.Thr556Ser)
c.1592C>G (p.Thr531Ser)
c.1589C>G (p.Thr530Ser)
c.1577C>G (p.Thr526Ser)
11g.22262168C>TCA379922557ANO5c.1220C>T (p.Thr407Ile)
c.1628C>T (p.Thr543Ile)
n.2664C>T
c.1625C>T (p.Thr542Ile)
c.1670C>T (p.Thr557Ile)
n.2005C>T
c.1667C>T (p.Thr556Ile)
c.1592C>T (p.Thr531Ile)
c.1589C>T (p.Thr530Ile)
c.1577C>T (p.Thr526Ile)
 dbSNP gnomAD v4
11g.22262169C>ACA473407230ANO5c.1221C>A (p.Thr407=)
c.1629C>A (p.Thr543=)
n.2665C>A
c.1626C>A (p.Thr542=)
c.1671C>A (p.Thr557=)
n.2006C>A
c.1668C>A (p.Thr556=)
c.1593C>A (p.Thr531=)
c.1590C>A (p.Thr530=)
c.1578C>A (p.Thr526=)
11g.22262169C=CA1957419823ANO5c.1221C= (p.Thr407=)
c.1629C= (p.Thr543=)
n.2665C=
c.1626C= (p.Thr542=)
c.1671C= (p.Thr557=)
n.2006C=
c.1668C= (p.Thr556=)
c.1593C= (p.Thr531=)
c.1590C= (p.Thr530=)
c.1578C= (p.Thr526=)
11g.22262169C>GCA473407231ANO5c.1221C>G (p.Thr407=)
c.1629C>G (p.Thr543=)
n.2665C>G
c.1626C>G (p.Thr542=)
c.1671C>G (p.Thr557=)
n.2006C>G
c.1668C>G (p.Thr556=)
c.1593C>G (p.Thr531=)
c.1590C>G (p.Thr530=)
c.1578C>G (p.Thr526=)
11g.22262169C>TCA218767948ANO5c.1221C>T (p.Thr407=)
c.1629C>T (p.Thr543=)
n.2665C>T
c.1626C>T (p.Thr542=)
c.1671C>T (p.Thr557=)
n.2006C>T
c.1668C>T (p.Thr556=)
c.1593C>T (p.Thr531=)
c.1590C>T (p.Thr530=)
c.1578C>T (p.Thr526=)
 ClinVar dbSNP gnomAD v4
11g.22262170T>ACA379922558ANO5c.1222T>A (p.Leu408Met)
c.1630T>A (p.Leu544Met)
n.2666T>A
c.1627T>A (p.Leu543Met)
c.1672T>A (p.Leu558Met)
n.2007T>A
c.1669T>A (p.Leu557Met)
c.1594T>A (p.Leu532Met)
c.1591T>A (p.Leu531Met)
c.1579T>A (p.Leu527Met)
11g.22262170T>CCA473407232ANO5c.1222T>C (p.Leu408=)
c.1630T>C (p.Leu544=)
n.2666T>C
c.1627T>C (p.Leu543=)
c.1672T>C (p.Leu558=)
n.2007T>C
c.1669T>C (p.Leu557=)
c.1594T>C (p.Leu532=)
c.1591T>C (p.Leu531=)
c.1579T>C (p.Leu527=)
11g.22262170T>GCA379922559ANO5c.1222T>G (p.Leu408Val)
c.1630T>G (p.Leu544Val)
n.2666T>G
c.1627T>G (p.Leu543Val)
c.1672T>G (p.Leu558Val)
n.2007T>G
c.1669T>G (p.Leu557Val)
c.1594T>G (p.Leu532Val)
c.1591T>G (p.Leu531Val)
c.1579T>G (p.Leu527Val)
11g.22262171T>ACA379922562ANO5c.1223T>A (p.Leu408Ter)
c.1631T>A (p.Leu544Ter)
n.2667T>A
c.1628T>A (p.Leu543Ter)
c.1673T>A (p.Leu558Ter)
n.2008T>A
c.1670T>A (p.Leu557Ter)
c.1595T>A (p.Leu532Ter)
c.1592T>A (p.Leu531Ter)
c.1580T>A (p.Leu527Ter)
11g.22262171T>CCA379922560ANO5c.1223T>C (p.Leu408Ser)
c.1631T>C (p.Leu544Ser)
n.2667T>C
c.1628T>C (p.Leu543Ser)
c.1673T>C (p.Leu558Ser)
n.2008T>C
c.1670T>C (p.Leu557Ser)
c.1595T>C (p.Leu532Ser)
c.1592T>C (p.Leu531Ser)
c.1580T>C (p.Leu527Ser)
11g.22262171T>GCA379922561ANO5c.1223T>G (p.Leu408Trp)
c.1631T>G (p.Leu544Trp)
n.2667T>G
c.1628T>G (p.Leu543Trp)
c.1673T>G (p.Leu558Trp)
n.2008T>G
c.1670T>G (p.Leu557Trp)
c.1595T>G (p.Leu532Trp)
c.1592T>G (p.Leu531Trp)
c.1580T>G (p.Leu527Trp)
11g.22262172G>ACA5923321ANO5c.1224G>A (p.Leu408=)
c.1632G>A (p.Leu544=)
n.2668G>A
c.1629G>A (p.Leu543=)
c.1674G>A (p.Leu558=)
n.2009G>A
c.1671G>A (p.Leu557=)
c.1596G>A (p.Leu532=)
c.1593G>A (p.Leu531=)
c.1581G>A (p.Leu527=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262172G>CCA379922563ANO5c.1224G>C (p.Leu408Phe)
c.1632G>C (p.Leu544Phe)
n.2668G>C
c.1629G>C (p.Leu543Phe)
c.1674G>C (p.Leu558Phe)
n.2009G>C
c.1671G>C (p.Leu557Phe)
c.1596G>C (p.Leu532Phe)
c.1593G>C (p.Leu531Phe)
c.1581G>C (p.Leu527Phe)
11g.22262172G=CA1957419824ANO5c.1224G= (p.Leu408=)
c.1632G= (p.Leu544=)
n.2668G=
c.1629G= (p.Leu543=)
c.1674G= (p.Leu558=)
n.2009G=
c.1671G= (p.Leu557=)
c.1596G= (p.Leu532=)
c.1593G= (p.Leu531=)
c.1581G= (p.Leu527=)
11g.22262172G>TCA379922564ANO5c.1224G>T (p.Leu408Phe)
c.1632G>T (p.Leu544Phe)
n.2668G>T
c.1629G>T (p.Leu543Phe)
c.1674G>T (p.Leu558Phe)
n.2009G>T
c.1671G>T (p.Leu557Phe)
c.1596G>T (p.Leu532Phe)
c.1593G>T (p.Leu531Phe)
c.1581G>T (p.Leu527Phe)
11g.22262173A>CCA379922565ANO5c.1225A>C (p.Lys409Gln)
c.1633A>C (p.Lys545Gln)
n.2669A>C
c.1630A>C (p.Lys544Gln)
c.1675A>C (p.Lys559Gln)
n.2010A>C
c.1672A>C (p.Lys558Gln)
c.1597A>C (p.Lys533Gln)
c.1594A>C (p.Lys532Gln)
c.1582A>C (p.Lys528Gln)
11g.22262173A>GCA379922566ANO5c.1225A>G (p.Lys409Glu)
c.1633A>G (p.Lys545Glu)
n.2669A>G
c.1630A>G (p.Lys544Glu)
c.1675A>G (p.Lys559Glu)
n.2010A>G
c.1672A>G (p.Lys558Glu)
c.1597A>G (p.Lys533Glu)
c.1594A>G (p.Lys532Glu)
c.1582A>G (p.Lys528Glu)
11g.22262173A>TCA379922567ANO5c.1225A>T (p.Lys409Ter)
c.1633A>T (p.Lys545Ter)
n.2669A>T
c.1630A>T (p.Lys544Ter)
c.1675A>T (p.Lys559Ter)
n.2010A>T
c.1672A>T (p.Lys558Ter)
c.1597A>T (p.Lys533Ter)
c.1594A>T (p.Lys532Ter)
c.1582A>T (p.Lys528Ter)
11g.22262174A>CCA379922568ANO5c.1226A>C (p.Lys409Thr)
c.1634A>C (p.Lys545Thr)
n.2670A>C
c.1631A>C (p.Lys544Thr)
c.1676A>C (p.Lys559Thr)
n.2011A>C
c.1673A>C (p.Lys558Thr)
c.1598A>C (p.Lys533Thr)
c.1595A>C (p.Lys532Thr)
c.1583A>C (p.Lys528Thr)
11g.22262174A>GCA379922569ANO5c.1226A>G (p.Lys409Arg)
c.1634A>G (p.Lys545Arg)
n.2670A>G
c.1631A>G (p.Lys544Arg)
c.1676A>G (p.Lys559Arg)
n.2011A>G
c.1673A>G (p.Lys558Arg)
c.1598A>G (p.Lys533Arg)
c.1595A>G (p.Lys532Arg)
c.1583A>G (p.Lys528Arg)
11g.22262174A>TCA379922570ANO5c.1226A>T (p.Lys409Ile)
c.1634A>T (p.Lys545Ile)
n.2670A>T
c.1631A>T (p.Lys544Ile)
c.1676A>T (p.Lys559Ile)
n.2011A>T
c.1673A>T (p.Lys558Ile)
c.1598A>T (p.Lys533Ile)
c.1595A>T (p.Lys532Ile)
c.1583A>T (p.Lys528Ile)
11g.22262175A=CA1957419825ANO5c.1227A= (p.Lys409=)
c.1635A= (p.Lys545=)
n.2671A=
c.1632A= (p.Lys544=)
c.1677A= (p.Lys559=)
n.2012A=
c.1674A= (p.Lys558=)
c.1599A= (p.Lys533=)
c.1596A= (p.Lys532=)
c.1584A= (p.Lys528=)
11g.22262175A>CCA379922571ANO5c.1227A>C (p.Lys409Asn)
c.1635A>C (p.Lys545Asn)
n.2671A>C
c.1632A>C (p.Lys544Asn)
c.1677A>C (p.Lys559Asn)
n.2012A>C
c.1674A>C (p.Lys558Asn)
c.1599A>C (p.Lys533Asn)
c.1596A>C (p.Lys532Asn)
c.1584A>C (p.Lys528Asn)
 ClinVar dbSNP
11g.22262175A>GCA473407233ANO5c.1227A>G (p.Lys409=)
c.1635A>G (p.Lys545=)
n.2671A>G
c.1632A>G (p.Lys544=)
c.1677A>G (p.Lys559=)
n.2012A>G
c.1674A>G (p.Lys558=)
c.1599A>G (p.Lys533=)
c.1596A>G (p.Lys532=)
c.1584A>G (p.Lys528=)
11g.22262175A>TCA379922572ANO5c.1227A>T (p.Lys409Asn)
c.1635A>T (p.Lys545Asn)
n.2671A>T
c.1632A>T (p.Lys544Asn)
c.1677A>T (p.Lys559Asn)
n.2012A>T
c.1674A>T (p.Lys558Asn)
c.1599A>T (p.Lys533Asn)
c.1596A>T (p.Lys532Asn)
c.1584A>T (p.Lys528Asn)
 gnomAD v4
11g.22262176A>CCA379922574ANO5c.1228A>C (p.Met410Leu)
c.1636A>C (p.Met546Leu)
n.2672A>C
c.1633A>C (p.Met545Leu)
c.1678A>C (p.Met560Leu)
n.2013A>C
c.1675A>C (p.Met559Leu)
c.1600A>C (p.Met534Leu)
c.1597A>C (p.Met533Leu)
c.1585A>C (p.Met529Leu)
11g.22262176A>GCA379922575ANO5c.1228A>G (p.Met410Val)
c.1636A>G (p.Met546Val)
n.2672A>G
c.1633A>G (p.Met545Val)
c.1678A>G (p.Met560Val)
n.2013A>G
c.1675A>G (p.Met559Val)
c.1600A>G (p.Met534Val)
c.1597A>G (p.Met533Val)
c.1585A>G (p.Met529Val)
11g.22262176A>TCA379922573ANO5c.1228A>T (p.Met410Leu)
c.1636A>T (p.Met546Leu)
n.2672A>T
c.1633A>T (p.Met545Leu)
c.1678A>T (p.Met560Leu)
n.2013A>T
c.1675A>T (p.Met559Leu)
c.1600A>T (p.Met534Leu)
c.1597A>T (p.Met533Leu)
c.1585A>T (p.Met529Leu)
11g.22262177T>ACA379922576ANO5c.1229T>A (p.Met410Lys)
c.1637T>A (p.Met546Lys)
n.2673T>A
c.1634T>A (p.Met545Lys)
c.1679T>A (p.Met560Lys)
n.2014T>A
c.1676T>A (p.Met559Lys)
c.1601T>A (p.Met534Lys)
c.1598T>A (p.Met533Lys)
c.1586T>A (p.Met529Lys)
11g.22262177T>CCA379922577ANO5c.1229T>C (p.Met410Thr)
c.1637T>C (p.Met546Thr)
n.2673T>C
c.1634T>C (p.Met545Thr)
c.1679T>C (p.Met560Thr)
n.2014T>C
c.1676T>C (p.Met559Thr)
c.1601T>C (p.Met534Thr)
c.1598T>C (p.Met533Thr)
c.1586T>C (p.Met529Thr)
11g.22262177T>GCA379922578ANO5c.1229T>G (p.Met410Arg)
c.1637T>G (p.Met546Arg)
n.2673T>G
c.1634T>G (p.Met545Arg)
c.1679T>G (p.Met560Arg)
n.2014T>G
c.1676T>G (p.Met559Arg)
c.1601T>G (p.Met534Arg)
c.1598T>G (p.Met533Arg)
c.1586T>G (p.Met529Arg)
11g.22262178delCA2580082878ANO5c.1230del (p.Met410IlefsTer7)
c.1638del (p.Met546IlefsTer7)
n.2674del
c.1635del (p.Met545IlefsTer7)
c.1680del (p.Met560IlefsTer7)
n.2015del
c.1677del (p.Met559IlefsTer7)
c.1602del (p.Met534IlefsTer7)
c.1599del (p.Met533IlefsTer7)
c.1587del (p.Met529IlefsTer7)
 ClinVar
11g.22262178G>ACA379922579ANO5c.1230G>A (p.Met410Ile)
c.1638G>A (p.Met546Ile)
n.2674G>A
c.1635G>A (p.Met545Ile)
c.1680G>A (p.Met560Ile)
n.2015G>A
c.1677G>A (p.Met559Ile)
c.1602G>A (p.Met534Ile)
c.1599G>A (p.Met533Ile)
c.1587G>A (p.Met529Ile)
 gnomAD v4
11g.22262178G>CCA379922580ANO5c.1230G>C (p.Met410Ile)
c.1638G>C (p.Met546Ile)
n.2674G>C
c.1635G>C (p.Met545Ile)
c.1680G>C (p.Met560Ile)
n.2015G>C
c.1677G>C (p.Met559Ile)
c.1602G>C (p.Met534Ile)
c.1599G>C (p.Met533Ile)
c.1587G>C (p.Met529Ile)
11g.22262178G>TCA379922581ANO5c.1230G>T (p.Met410Ile)
c.1638G>T (p.Met546Ile)
n.2674G>T
c.1635G>T (p.Met545Ile)
c.1680G>T (p.Met560Ile)
n.2015G>T
c.1677G>T (p.Met559Ile)
c.1602G>T (p.Met534Ile)
c.1599G>T (p.Met533Ile)
c.1587G>T (p.Met529Ile)
11g.22262179T>ACA379922582ANO5c.1231T>A (p.Phe411Ile)
c.1639T>A (p.Phe547Ile)
n.2675T>A
c.1636T>A (p.Phe546Ile)
c.1681T>A (p.Phe561Ile)
n.2016T>A
c.1678T>A (p.Phe560Ile)
c.1603T>A (p.Phe535Ile)
c.1600T>A (p.Phe534Ile)
c.1588T>A (p.Phe530Ile)
11g.22262179T>CCA379922583ANO5c.1231T>C (p.Phe411Leu)
c.1639T>C (p.Phe547Leu)
n.2675T>C
c.1636T>C (p.Phe546Leu)
c.1681T>C (p.Phe561Leu)
n.2016T>C
c.1678T>C (p.Phe560Leu)
c.1603T>C (p.Phe535Leu)
c.1600T>C (p.Phe534Leu)
c.1588T>C (p.Phe530Leu)
11g.22262179T>GCA379922584ANO5c.1231T>G (p.Phe411Val)
c.1639T>G (p.Phe547Val)
n.2675T>G
c.1636T>G (p.Phe546Val)
c.1681T>G (p.Phe561Val)
n.2016T>G
c.1678T>G (p.Phe560Val)
c.1603T>G (p.Phe535Val)
c.1600T>G (p.Phe534Val)
c.1588T>G (p.Phe530Val)
11g.22262180T>ACA379922585ANO5c.1232T>A (p.Phe411Tyr)
c.1640T>A (p.Phe547Tyr)
n.2676T>A
c.1637T>A (p.Phe546Tyr)
c.1682T>A (p.Phe561Tyr)
n.2017T>A
c.1679T>A (p.Phe560Tyr)
c.1604T>A (p.Phe535Tyr)
c.1601T>A (p.Phe534Tyr)
c.1589T>A (p.Phe530Tyr)
 gnomAD v4
11g.22262180T>CCA379922586ANO5c.1232T>C (p.Phe411Ser)
c.1640T>C (p.Phe547Ser)
n.2676T>C
c.1637T>C (p.Phe546Ser)
c.1682T>C (p.Phe561Ser)
n.2017T>C
c.1679T>C (p.Phe560Ser)
c.1604T>C (p.Phe535Ser)
c.1601T>C (p.Phe534Ser)
c.1589T>C (p.Phe530Ser)
11g.22262180T>GCA379922587ANO5c.1232T>G (p.Phe411Cys)
c.1640T>G (p.Phe547Cys)
n.2676T>G
c.1637T>G (p.Phe546Cys)
c.1682T>G (p.Phe561Cys)
n.2017T>G
c.1679T>G (p.Phe560Cys)
c.1604T>G (p.Phe535Cys)
c.1601T>G (p.Phe534Cys)
c.1589T>G (p.Phe530Cys)
11g.22262181C>ACA379922588ANO5c.1233C>A (p.Phe411Leu)
c.1641C>A (p.Phe547Leu)
n.2677C>A
c.1638C>A (p.Phe546Leu)
c.1683C>A (p.Phe561Leu)
n.2018C>A
c.1680C>A (p.Phe560Leu)
c.1605C>A (p.Phe535Leu)
c.1602C>A (p.Phe534Leu)
c.1590C>A (p.Phe530Leu)
 gnomAD v4
11g.22262181C>GCA379922589ANO5c.1233C>G (p.Phe411Leu)
c.1641C>G (p.Phe547Leu)
n.2677C>G
c.1638C>G (p.Phe546Leu)
c.1683C>G (p.Phe561Leu)
n.2018C>G
c.1680C>G (p.Phe560Leu)
c.1605C>G (p.Phe535Leu)
c.1602C>G (p.Phe534Leu)
c.1590C>G (p.Phe530Leu)
11g.22262181C>TCA473407234ANO5c.1233C>T (p.Phe411=)
c.1641C>T (p.Phe547=)
n.2677C>T
c.1638C>T (p.Phe546=)
c.1683C>T (p.Phe561=)
n.2018C>T
c.1680C>T (p.Phe560=)
c.1605C>T (p.Phe535=)
c.1602C>T (p.Phe534=)
c.1590C>T (p.Phe530=)
 gnomAD v4 COSMIC
11g.22262181_22262183delinsCCTCA1957419826ANO5c.1233_1235delinsCCT (p.Phe411=)
c.1641_1643delinsCCT (p.Phe547=)
n.2677_2679delinsCCT
c.1638_1640delinsCCT (p.Phe546=)
c.1683_1685delinsCCT (p.Phe561=)
n.2018_2020delinsCCT
c.1680_1682delinsCCT (p.Phe560=)
c.1605_1607delinsCCT (p.Phe535=)
c.1602_1604delinsCCT (p.Phe534=)
c.1590_1592delinsCCT (p.Phe530=)
11g.22262182C>ACA379922590ANO5c.1234C>A (p.Leu412Met)
c.1642C>A (p.Leu548Met)
n.2678C>A
c.1639C>A (p.Leu547Met)
c.1684C>A (p.Leu562Met)
n.2019C>A
c.1681C>A (p.Leu561Met)
c.1606C>A (p.Leu536Met)
c.1603C>A (p.Leu535Met)
c.1591C>A (p.Leu531Met)
11g.22262182C=CA1957419827ANO5c.1234C= (p.Leu412=)
c.1642C= (p.Leu548=)
n.2678C=
c.1639C= (p.Leu547=)
c.1684C= (p.Leu562=)
n.2019C=
c.1681C= (p.Leu561=)
c.1606C= (p.Leu536=)
c.1603C= (p.Leu535=)
c.1591C= (p.Leu531=)
11g.22262182C>GCA379922591ANO5c.1234C>G (p.Leu412Val)
c.1642C>G (p.Leu548Val)
n.2678C>G
c.1639C>G (p.Leu547Val)
c.1684C>G (p.Leu562Val)
n.2019C>G
c.1681C>G (p.Leu561Val)
c.1606C>G (p.Leu536Val)
c.1603C>G (p.Leu535Val)
c.1591C>G (p.Leu531Val)
 dbSNP gnomAD v4
11g.22262182C>TCA473407235ANO5c.1234C>T (p.Leu412=)
c.1642C>T (p.Leu548=)
n.2678C>T
c.1639C>T (p.Leu547=)
c.1684C>T (p.Leu562=)
n.2019C>T
c.1681C>T (p.Leu561=)
c.1606C>T (p.Leu536=)
c.1603C>T (p.Leu535=)
c.1591C>T (p.Leu531=)
 COSMIC
11g.22262182_22262183delCA598389566ANO5c.1234_1235del (p.Leu412ValfsTer17)
c.1642_1643del (p.Leu548ValfsTer17)
n.2678_2679del
c.1639_1640del (p.Leu547ValfsTer17)
c.1684_1685del (p.Leu562ValfsTer17)
n.2019_2020del
c.1681_1682del (p.Leu561ValfsTer17)
c.1606_1607del (p.Leu536ValfsTer17)
c.1603_1604del (p.Leu535ValfsTer17)
c.1591_1592del (p.Leu531ValfsTer17)
 dbSNP gnomAD v2
11g.22262183T>ACA379922592ANO5c.1235T>A (p.Leu412Gln)
c.1643T>A (p.Leu548Gln)
n.2679T>A
c.1640T>A (p.Leu547Gln)
c.1685T>A (p.Leu562Gln)
n.2020T>A
c.1682T>A (p.Leu561Gln)
c.1607T>A (p.Leu536Gln)
c.1604T>A (p.Leu535Gln)
c.1592T>A (p.Leu531Gln)
11g.22262183T>CCA5923322ANO5c.1235T>C (p.Leu412Pro)
c.1643T>C (p.Leu548Pro)
n.2679T>C
c.1640T>C (p.Leu547Pro)
c.1685T>C (p.Leu562Pro)
n.2020T>C
c.1682T>C (p.Leu561Pro)
c.1607T>C (p.Leu536Pro)
c.1604T>C (p.Leu535Pro)
c.1592T>C (p.Leu531Pro)
 ClinVar dbSNP ExAC
11g.22262183T>GCA379922593ANO5c.1235T>G (p.Leu412Arg)
c.1643T>G (p.Leu548Arg)
n.2679T>G
c.1640T>G (p.Leu547Arg)
c.1685T>G (p.Leu562Arg)
n.2020T>G
c.1682T>G (p.Leu561Arg)
c.1607T>G (p.Leu536Arg)
c.1604T>G (p.Leu535Arg)
c.1592T>G (p.Leu531Arg)
11g.22262183T=CA1957419828ANO5c.1235T= (p.Leu412=)
c.1643T= (p.Leu548=)
n.2679T=
c.1640T= (p.Leu547=)
c.1685T= (p.Leu562=)
n.2020T=
c.1682T= (p.Leu561=)
c.1607T= (p.Leu536=)
c.1604T= (p.Leu535=)
c.1592T= (p.Leu531=)
11g.22262184G>ACA218767956ANO5c.1236G>A (p.Leu412=)
c.1644G>A (p.Leu548=)
n.2680G>A
c.1641G>A (p.Leu547=)
c.1686G>A (p.Leu562=)
n.2021G>A
c.1683G>A (p.Leu561=)
c.1608G>A (p.Leu536=)
c.1605G>A (p.Leu535=)
c.1593G>A (p.Leu531=)
 dbSNP
11g.22262184G>CCA473407236ANO5c.1236G>C (p.Leu412=)
c.1644G>C (p.Leu548=)
n.2680G>C
c.1641G>C (p.Leu547=)
c.1686G>C (p.Leu562=)
n.2021G>C
c.1683G>C (p.Leu561=)
c.1608G>C (p.Leu536=)
c.1605G>C (p.Leu535=)
c.1593G>C (p.Leu531=)
11g.22262184G=CA1957419829ANO5c.1236G= (p.Leu412=)
c.1644G= (p.Leu548=)
n.2680G=
c.1641G= (p.Leu547=)
c.1686G= (p.Leu562=)
n.2021G=
c.1683G= (p.Leu561=)
c.1608G= (p.Leu536=)
c.1605G= (p.Leu535=)
c.1593G= (p.Leu531=)
11g.22262184G>TCA473407237ANO5c.1236G>T (p.Leu412=)
c.1644G>T (p.Leu548=)
n.2680G>T
c.1641G>T (p.Leu547=)
c.1686G>T (p.Leu562=)
n.2021G>T
c.1683G>T (p.Leu561=)
c.1608G>T (p.Leu536=)
c.1605G>T (p.Leu535=)
c.1593G>T (p.Leu531=)
11g.22262185T>ACA379922594ANO5c.1237T>A (p.Phe413Ile)
c.1645T>A (p.Phe549Ile)
n.2681T>A
c.1642T>A (p.Phe548Ile)
c.1687T>A (p.Phe563Ile)
n.2022T>A
c.1684T>A (p.Phe562Ile)
c.1609T>A (p.Phe537Ile)
c.1606T>A (p.Phe536Ile)
c.1594T>A (p.Phe532Ile)
11g.22262185T>CCA379922595ANO5c.1237T>C (p.Phe413Leu)
c.1645T>C (p.Phe549Leu)
n.2681T>C
c.1642T>C (p.Phe548Leu)
c.1687T>C (p.Phe563Leu)
n.2022T>C
c.1684T>C (p.Phe562Leu)
c.1609T>C (p.Phe537Leu)
c.1606T>C (p.Phe536Leu)
c.1594T>C (p.Phe532Leu)
11g.22262185T>GCA379922596ANO5c.1237T>G (p.Phe413Val)
c.1645T>G (p.Phe549Val)
n.2681T>G
c.1642T>G (p.Phe548Val)
c.1687T>G (p.Phe563Val)
n.2022T>G
c.1684T>G (p.Phe562Val)
c.1609T>G (p.Phe537Val)
c.1606T>G (p.Phe536Val)
c.1594T>G (p.Phe532Val)
11g.22262187_22262193delCA2612838422ANO5c.1239_1245del (p.Phe413LeufsTer2)
c.1647_1653del (p.Phe549LeufsTer2)
n.2683_2689del
c.1644_1650del (p.Phe548LeufsTer2)
c.1689_1695del (p.Phe563LeufsTer2)
n.2024_2030del
c.1686_1692del (p.Phe562LeufsTer2)
c.1611_1617del (p.Phe537LeufsTer2)
c.1608_1614del (p.Phe536LeufsTer2)
c.1596_1602del (p.Phe532LeufsTer2)
 gnomAD v4
11g.22262186T>ACA379922597ANO5c.1238T>A (p.Phe413Tyr)
c.1646T>A (p.Phe549Tyr)
n.2682T>A
c.1643T>A (p.Phe548Tyr)
c.1688T>A (p.Phe563Tyr)
n.2023T>A
c.1685T>A (p.Phe562Tyr)
c.1610T>A (p.Phe537Tyr)
c.1607T>A (p.Phe536Tyr)
c.1595T>A (p.Phe532Tyr)
11g.22262186T>CCA379922598ANO5c.1238T>C (p.Phe413Ser)
c.1646T>C (p.Phe549Ser)
n.2682T>C
c.1643T>C (p.Phe548Ser)
c.1688T>C (p.Phe563Ser)
n.2023T>C
c.1685T>C (p.Phe562Ser)
c.1610T>C (p.Phe537Ser)
c.1607T>C (p.Phe536Ser)
c.1595T>C (p.Phe532Ser)
11g.22262186T>GCA379922599ANO5c.1238T>G (p.Phe413Cys)
c.1646T>G (p.Phe549Cys)
n.2682T>G
c.1643T>G (p.Phe548Cys)
c.1688T>G (p.Phe563Cys)
n.2023T>G
c.1685T>G (p.Phe562Cys)
c.1610T>G (p.Phe537Cys)
c.1607T>G (p.Phe536Cys)
c.1595T>G (p.Phe532Cys)
11g.22262187T>ACA379922600ANO5c.1239T>A (p.Phe413Leu)
c.1647T>A (p.Phe549Leu)
n.2683T>A
c.1644T>A (p.Phe548Leu)
c.1689T>A (p.Phe563Leu)
n.2024T>A
c.1686T>A (p.Phe562Leu)
c.1611T>A (p.Phe537Leu)
c.1608T>A (p.Phe536Leu)
c.1596T>A (p.Phe532Leu)
11g.22262187T>CCA10606800ANO5c.1239T>C (p.Phe413=)
c.1647T>C (p.Phe549=)
n.2683T>C
c.1644T>C (p.Phe548=)
c.1689T>C (p.Phe563=)
n.2024T>C
c.1686T>C (p.Phe562=)
c.1611T>C (p.Phe537=)
c.1608T>C (p.Phe536=)
c.1596T>C (p.Phe532=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22262187T>GCA379922601ANO5c.1239T>G (p.Phe413Leu)
c.1647T>G (p.Phe549Leu)
n.2683T>G
c.1644T>G (p.Phe548Leu)
c.1689T>G (p.Phe563Leu)
n.2024T>G
c.1686T>G (p.Phe562Leu)
c.1611T>G (p.Phe537Leu)
c.1608T>G (p.Phe536Leu)
c.1596T>G (p.Phe532Leu)
11g.22262187T=CA1957419830ANO5c.1239T= (p.Phe413=)
c.1647T= (p.Phe549=)
n.2683T=
c.1644T= (p.Phe548=)
c.1689T= (p.Phe563=)
n.2024T=
c.1686T= (p.Phe562=)
c.1611T= (p.Phe537=)
c.1608T= (p.Phe536=)
c.1596T= (p.Phe532=)
11g.22262188C>ACA379922604ANO5c.1240C>A (p.Gln414Lys)
c.1648C>A (p.Gln550Lys)
n.2684C>A
c.1645C>A (p.Gln549Lys)
c.1690C>A (p.Gln564Lys)
n.2025C>A
c.1687C>A (p.Gln563Lys)
c.1612C>A (p.Gln538Lys)
c.1609C>A (p.Gln537Lys)
c.1597C>A (p.Gln533Lys)
11g.22262188C>GCA379922603ANO5c.1240C>G (p.Gln414Glu)
c.1648C>G (p.Gln550Glu)
n.2684C>G
c.1645C>G (p.Gln549Glu)
c.1690C>G (p.Gln564Glu)
n.2025C>G
c.1687C>G (p.Gln563Glu)
c.1612C>G (p.Gln538Glu)
c.1609C>G (p.Gln537Glu)
c.1597C>G (p.Gln533Glu)
11g.22262188C>TCA379922602ANO5c.1240C>T (p.Gln414Ter)
c.1648C>T (p.Gln550Ter)
n.2684C>T
c.1645C>T (p.Gln549Ter)
c.1690C>T (p.Gln564Ter)
n.2025C>T
c.1687C>T (p.Gln563Ter)
c.1612C>T (p.Gln538Ter)
c.1609C>T (p.Gln537Ter)
c.1597C>T (p.Gln533Ter)
 ClinVar dbSNP
11g.22262189A=CA1957419831ANO5c.1241A= (p.Gln414=)
c.1649A= (p.Gln550=)
n.2685A=
c.1646A= (p.Gln549=)
c.1691A= (p.Gln564=)
n.2026A=
c.1688A= (p.Gln563=)
c.1613A= (p.Gln538=)
c.1610A= (p.Gln537=)
c.1598A= (p.Gln533=)
11g.22262189A>CCA379922605ANO5c.1241A>C (p.Gln414Pro)
c.1649A>C (p.Gln550Pro)
n.2685A>C
c.1646A>C (p.Gln549Pro)
c.1691A>C (p.Gln564Pro)
n.2026A>C
c.1688A>C (p.Gln563Pro)
c.1613A>C (p.Gln538Pro)
c.1610A>C (p.Gln537Pro)
c.1598A>C (p.Gln533Pro)
 gnomAD v4
11g.22262189A>GCA379922606ANO5c.1241A>G (p.Gln414Arg)
c.1649A>G (p.Gln550Arg)
n.2685A>G
c.1646A>G (p.Gln549Arg)
c.1691A>G (p.Gln564Arg)
n.2026A>G
c.1688A>G (p.Gln563Arg)
c.1613A>G (p.Gln538Arg)
c.1610A>G (p.Gln537Arg)
c.1598A>G (p.Gln533Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.22262189A>TCA379922607ANO5c.1241A>T (p.Gln414Leu)
c.1649A>T (p.Gln550Leu)
n.2685A>T
c.1646A>T (p.Gln549Leu)
c.1691A>T (p.Gln564Leu)
n.2026A>T
c.1688A>T (p.Gln563Leu)
c.1613A>T (p.Gln538Leu)
c.1610A>T (p.Gln537Leu)
c.1598A>T (p.Gln533Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22262189_22262212delinsAGTTTGTAAATTTTTACTCATCCTCA1957419832ANO5c.1241_1264delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln414=)
c.1649_1672delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln550=)
n.2685_2708delinsAGTTTGTAAATTTTTACTCATCCT
c.1646_1669delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln549=)
c.1691_1714delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln564=)
n.2026_2049delinsAGTTTGTAAATTTTTACTCATCCT
c.1688_1711delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln563=)
c.1613_1636delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln538=)
c.1610_1633delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln537=)
c.1598_1621delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln533=)
11g.22262190G>ACA473407238ANO5c.1242G>A (p.Gln414=)
c.1650G>A (p.Gln550=)
n.2686G>A
c.1647G>A (p.Gln549=)
c.1692G>A (p.Gln564=)
n.2027G>A
c.1689G>A (p.Gln563=)
c.1614G>A (p.Gln538=)
c.1611G>A (p.Gln537=)
c.1599G>A (p.Gln533=)
 gnomAD v4
11g.22262190G>CCA10606349ANO5c.1242G>C (p.Gln414His)
c.1650G>C (p.Gln550His)
n.2686G>C
c.1647G>C (p.Gln549His)
c.1692G>C (p.Gln564His)
n.2027G>C
c.1689G>C (p.Gln563His)
c.1614G>C (p.Gln538His)
c.1611G>C (p.Gln537His)
c.1599G>C (p.Gln533His)
 ClinVar dbSNP
11g.22262190G=CA1957419833ANO5c.1242G= (p.Gln414=)
c.1650G= (p.Gln550=)
n.2686G=
c.1647G= (p.Gln549=)
c.1692G= (p.Gln564=)
n.2027G=
c.1689G= (p.Gln563=)
c.1614G= (p.Gln538=)
c.1611G= (p.Gln537=)
c.1599G= (p.Gln533=)
11g.22262190G>TCA379922608ANO5c.1242G>T (p.Gln414His)
c.1650G>T (p.Gln550His)
n.2686G>T
c.1647G>T (p.Gln549His)
c.1692G>T (p.Gln564His)
n.2027G>T
c.1689G>T (p.Gln563His)
c.1614G>T (p.Gln538His)
c.1611G>T (p.Gln537His)
c.1599G>T (p.Gln533His)
 gnomAD v4
11g.22262191_22262213delCA658823111ANO5c.1243_1265del (p.Phe415LeufsTer7)
c.1651_1673del (p.Phe551LeufsTer7)
n.2687_2709del
c.1648_1670del (p.Phe550LeufsTer7)
c.1693_1715del (p.Phe565LeufsTer7)
n.2028_2050del
c.1690_1712del (p.Phe564LeufsTer7)
c.1615_1637del (p.Phe539LeufsTer7)
c.1612_1634del (p.Phe538LeufsTer7)
c.1600_1622del (p.Phe534LeufsTer7)
 ClinVar dbSNP
11g.22262191T>ACA379922609ANO5c.1243T>A (p.Phe415Ile)
c.1651T>A (p.Phe551Ile)
n.2687T>A
c.1648T>A (p.Phe550Ile)
c.1693T>A (p.Phe565Ile)
n.2028T>A
c.1690T>A (p.Phe564Ile)
c.1615T>A (p.Phe539Ile)
c.1612T>A (p.Phe538Ile)
c.1600T>A (p.Phe534Ile)
 gnomAD v4
11g.22262191T>CCA379922610ANO5c.1243T>C (p.Phe415Leu)
c.1651T>C (p.Phe551Leu)
n.2687T>C
c.1648T>C (p.Phe550Leu)
c.1693T>C (p.Phe565Leu)
n.2028T>C
c.1690T>C (p.Phe564Leu)
c.1615T>C (p.Phe539Leu)
c.1612T>C (p.Phe538Leu)
c.1600T>C (p.Phe534Leu)
11g.22262191T>GCA379922611ANO5c.1243T>G (p.Phe415Val)
c.1651T>G (p.Phe551Val)
n.2687T>G
c.1648T>G (p.Phe550Val)
c.1693T>G (p.Phe565Val)
n.2028T>G
c.1690T>G (p.Phe564Val)
c.1615T>G (p.Phe539Val)
c.1612T>G (p.Phe538Val)
c.1600T>G (p.Phe534Val)
11g.22262192T>ACA379922612ANO5c.1244T>A (p.Phe415Tyr)
c.1652T>A (p.Phe551Tyr)
n.2688T>A
c.1649T>A (p.Phe550Tyr)
c.1694T>A (p.Phe565Tyr)
n.2029T>A
c.1691T>A (p.Phe564Tyr)
c.1616T>A (p.Phe539Tyr)
c.1613T>A (p.Phe538Tyr)
c.1601T>A (p.Phe534Tyr)
11g.22262192T>CCA379922613ANO5c.1244T>C (p.Phe415Ser)
c.1652T>C (p.Phe551Ser)
n.2688T>C
c.1649T>C (p.Phe550Ser)
c.1694T>C (p.Phe565Ser)
n.2029T>C
c.1691T>C (p.Phe564Ser)
c.1616T>C (p.Phe539Ser)
c.1613T>C (p.Phe538Ser)
c.1601T>C (p.Phe534Ser)
 gnomAD v4
11g.22262192T>GCA379922614ANO5c.1244T>G (p.Phe415Cys)
c.1652T>G (p.Phe551Cys)
n.2688T>G
c.1649T>G (p.Phe550Cys)
c.1694T>G (p.Phe565Cys)
n.2029T>G
c.1691T>G (p.Phe564Cys)
c.1616T>G (p.Phe539Cys)
c.1613T>G (p.Phe538Cys)
c.1601T>G (p.Phe534Cys)
11g.22262193T>ACA379922615ANO5c.1245T>A (p.Phe415Leu)
c.1653T>A (p.Phe551Leu)
n.2689T>A
c.1650T>A (p.Phe550Leu)
c.1695T>A (p.Phe565Leu)
n.2030T>A
c.1692T>A (p.Phe564Leu)
c.1617T>A (p.Phe539Leu)
c.1614T>A (p.Phe538Leu)
c.1602T>A (p.Phe534Leu)
11g.22262193T>CCA5923323ANO5c.1245T>C (p.Phe415=)
c.1653T>C (p.Phe551=)
n.2689T>C
c.1650T>C (p.Phe550=)
c.1695T>C (p.Phe565=)
n.2030T>C
c.1692T>C (p.Phe564=)
c.1617T>C (p.Phe539=)
c.1614T>C (p.Phe538=)
c.1602T>C (p.Phe534=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262193T>GCA379922616ANO5c.1245T>G (p.Phe415Leu)
c.1653T>G (p.Phe551Leu)
n.2689T>G
c.1650T>G (p.Phe550Leu)
c.1695T>G (p.Phe565Leu)
n.2030T>G
c.1692T>G (p.Phe564Leu)
c.1617T>G (p.Phe539Leu)
c.1614T>G (p.Phe538Leu)
c.1602T>G (p.Phe534Leu)
11g.22262193T=CA1957419834ANO5c.1245T= (p.Phe415=)
c.1653T= (p.Phe551=)
n.2689T=
c.1650T= (p.Phe550=)
c.1695T= (p.Phe565=)
n.2030T=
c.1692T= (p.Phe564=)
c.1617T= (p.Phe539=)
c.1614T= (p.Phe538=)
c.1602T= (p.Phe534=)
11g.22262194G>ACA379922619ANO5c.1246G>A (p.Val416Ile)
c.1654G>A (p.Val552Ile)
n.2690G>A
c.1651G>A (p.Val551Ile)
c.1696G>A (p.Val566Ile)
n.2031G>A
c.1693G>A (p.Val565Ile)
c.1618G>A (p.Val540Ile)
c.1615G>A (p.Val539Ile)
c.1603G>A (p.Val535Ile)
11g.22262194G>CCA379922618ANO5c.1246G>C (p.Val416Leu)
c.1654G>C (p.Val552Leu)
n.2690G>C
c.1651G>C (p.Val551Leu)
c.1696G>C (p.Val566Leu)
n.2031G>C
c.1693G>C (p.Val565Leu)
c.1618G>C (p.Val540Leu)
c.1615G>C (p.Val539Leu)
c.1603G>C (p.Val535Leu)
11g.22262194G>TCA379922617ANO5c.1246G>T (p.Val416Leu)
c.1654G>T (p.Val552Leu)
n.2690G>T
c.1651G>T (p.Val551Leu)
c.1696G>T (p.Val566Leu)
n.2031G>T
c.1693G>T (p.Val565Leu)
c.1618G>T (p.Val540Leu)
c.1615G>T (p.Val539Leu)
c.1603G>T (p.Val535Leu)
11g.22262195T>ACA379922620ANO5c.1247T>A (p.Val416Glu)
c.1655T>A (p.Val552Glu)
n.2691T>A
c.1652T>A (p.Val551Glu)
c.1697T>A (p.Val566Glu)
n.2032T>A
c.1694T>A (p.Val565Glu)
c.1619T>A (p.Val540Glu)
c.1616T>A (p.Val539Glu)
c.1604T>A (p.Val535Glu)
11g.22262195T>CCA379922621ANO5c.1247T>C (p.Val416Ala)
c.1655T>C (p.Val552Ala)
n.2691T>C
c.1652T>C (p.Val551Ala)
c.1697T>C (p.Val566Ala)
n.2032T>C
c.1694T>C (p.Val565Ala)
c.1619T>C (p.Val540Ala)
c.1616T>C (p.Val539Ala)
c.1604T>C (p.Val535Ala)
 gnomAD v4
11g.22262195T>GCA379922622ANO5c.1247T>G (p.Val416Gly)
c.1655T>G (p.Val552Gly)
n.2691T>G
c.1652T>G (p.Val551Gly)
c.1697T>G (p.Val566Gly)
n.2032T>G
c.1694T>G (p.Val565Gly)
c.1619T>G (p.Val540Gly)
c.1616T>G (p.Val539Gly)
c.1604T>G (p.Val535Gly)
11g.22262196A=CA1957419835ANO5c.1248A= (p.Val416=)
c.1656A= (p.Val552=)
n.2692A=
c.1653A= (p.Val551=)
c.1698A= (p.Val566=)
n.2033A=
c.1695A= (p.Val565=)
c.1620A= (p.Val540=)
c.1617A= (p.Val539=)
c.1605A= (p.Val535=)
11g.22262196A>CCA473407239ANO5c.1248A>C (p.Val416=)
c.1656A>C (p.Val552=)
n.2692A>C
c.1653A>C (p.Val551=)
c.1698A>C (p.Val566=)
n.2033A>C
c.1695A>C (p.Val565=)
c.1620A>C (p.Val540=)
c.1617A>C (p.Val539=)
c.1605A>C (p.Val535=)
11g.22262196A>GCA5923324ANO5c.1248A>G (p.Val416=)
c.1656A>G (p.Val552=)
n.2692A>G
c.1653A>G (p.Val551=)
c.1698A>G (p.Val566=)
n.2033A>G
c.1695A>G (p.Val565=)
c.1620A>G (p.Val540=)
c.1617A>G (p.Val539=)
c.1605A>G (p.Val535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262196A>TCA473407240ANO5c.1248A>T (p.Val416=)
c.1656A>T (p.Val552=)
n.2692A>T
c.1653A>T (p.Val551=)
c.1698A>T (p.Val566=)
n.2033A>T
c.1695A>T (p.Val565=)
c.1620A>T (p.Val540=)
c.1617A>T (p.Val539=)
c.1605A>T (p.Val535=)
11g.22262196_22262197insTTAAACTAACCACTGGCA2536293326ANO5c.1248_1249insTTAAACTAACCACTGG (p.Asn417LeufsTer3)
c.1656_1657insTTAAACTAACCACTGG (p.Asn553LeufsTer3)
n.2692_2693insTTAAACTAACCACTGG
c.1653_1654insTTAAACTAACCACTGG (p.Asn552LeufsTer3)
c.1698_1699insTTAAACTAACCACTGG (p.Asn567LeufsTer3)
n.2033_2034insTTAAACTAACCACTGG
c.1695_1696insTTAAACTAACCACTGG (p.Asn566LeufsTer3)
c.1620_1621insTTAAACTAACCACTGG (p.Asn541LeufsTer3)
c.1617_1618insTTAAACTAACCACTGG (p.Asn540LeufsTer3)
c.1605_1606insTTAAACTAACCACTGG (p.Asn536LeufsTer3)
11g.22262197A>CCA379922623ANO5c.1249A>C (p.Asn417His)
c.1657A>C (p.Asn553His)
n.2693A>C
c.1654A>C (p.Asn552His)
c.1699A>C (p.Asn567His)
n.2034A>C
c.1696A>C (p.Asn566His)
c.1621A>C (p.Asn541His)
c.1618A>C (p.Asn540His)
c.1606A>C (p.Asn536His)
 COSMIC
11g.22262197A>GCA379922624ANO5c.1249A>G (p.Asn417Asp)
c.1657A>G (p.Asn553Asp)
n.2693A>G
c.1654A>G (p.Asn552Asp)
c.1699A>G (p.Asn567Asp)
n.2034A>G
c.1696A>G (p.Asn566Asp)
c.1621A>G (p.Asn541Asp)
c.1618A>G (p.Asn540Asp)
c.1606A>G (p.Asn536Asp)
11g.22262197A>TCA379922625ANO5c.1249A>T (p.Asn417Tyr)
c.1657A>T (p.Asn553Tyr)
n.2693A>T
c.1654A>T (p.Asn552Tyr)
c.1699A>T (p.Asn567Tyr)
n.2034A>T
c.1696A>T (p.Asn566Tyr)
c.1621A>T (p.Asn541Tyr)
c.1618A>T (p.Asn540Tyr)
c.1606A>T (p.Asn536Tyr)
11g.22262198A=CA1957419836ANO5c.1250A= (p.Asn417=)
c.1658A= (p.Asn553=)
n.2694A=
c.1655A= (p.Asn552=)
c.1700A= (p.Asn567=)
n.2035A=
c.1697A= (p.Asn566=)
c.1622A= (p.Asn541=)
c.1619A= (p.Asn540=)
c.1607A= (p.Asn536=)
11g.22262198A>CCA379922626ANO5c.1250A>C (p.Asn417Thr)
c.1658A>C (p.Asn553Thr)
n.2694A>C
c.1655A>C (p.Asn552Thr)
c.1700A>C (p.Asn567Thr)
n.2035A>C
c.1697A>C (p.Asn566Thr)
c.1622A>C (p.Asn541Thr)
c.1619A>C (p.Asn540Thr)
c.1607A>C (p.Asn536Thr)
11g.22262198A>GCA379922627ANO5c.1250A>G (p.Asn417Ser)
c.1658A>G (p.Asn553Ser)
n.2694A>G
c.1655A>G (p.Asn552Ser)
c.1700A>G (p.Asn567Ser)
n.2035A>G
c.1697A>G (p.Asn566Ser)
c.1622A>G (p.Asn541Ser)
c.1619A>G (p.Asn540Ser)
c.1607A>G (p.Asn536Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.22262198A>TCA379922628ANO5c.1250A>T (p.Asn417Ile)
c.1658A>T (p.Asn553Ile)
n.2694A>T
c.1655A>T (p.Asn552Ile)
c.1700A>T (p.Asn567Ile)
n.2035A>T
c.1697A>T (p.Asn566Ile)
c.1622A>T (p.Asn541Ile)
c.1619A>T (p.Asn540Ile)
c.1607A>T (p.Asn536Ile)
11g.22262199T>ACA379922629ANO5c.1251T>A (p.Asn417Lys)
c.1659T>A (p.Asn553Lys)
n.2695T>A
c.1656T>A (p.Asn552Lys)
c.1701T>A (p.Asn567Lys)
n.2036T>A
c.1698T>A (p.Asn566Lys)
c.1623T>A (p.Asn541Lys)
c.1620T>A (p.Asn540Lys)
c.1608T>A (p.Asn536Lys)
11g.22262199T>CCA473407241ANO5c.1251T>C (p.Asn417=)
c.1659T>C (p.Asn553=)
n.2695T>C
c.1656T>C (p.Asn552=)
c.1701T>C (p.Asn567=)
n.2036T>C
c.1698T>C (p.Asn566=)
c.1623T>C (p.Asn541=)
c.1620T>C (p.Asn540=)
c.1608T>C (p.Asn536=)
 gnomAD v4
11g.22262199T>GCA379922630ANO5c.1251T>G (p.Asn417Lys)
c.1659T>G (p.Asn553Lys)
n.2695T>G
c.1656T>G (p.Asn552Lys)
c.1701T>G (p.Asn567Lys)
n.2036T>G
c.1698T>G (p.Asn566Lys)
c.1623T>G (p.Asn541Lys)
c.1620T>G (p.Asn540Lys)
c.1608T>G (p.Asn536Lys)
11g.22262200T>ACA379922631ANO5c.1252T>A (p.Phe418Ile)
c.1660T>A (p.Phe554Ile)
n.2696T>A
c.1657T>A (p.Phe553Ile)
c.1702T>A (p.Phe568Ile)
n.2037T>A
c.1699T>A (p.Phe567Ile)
c.1624T>A (p.Phe542Ile)
c.1621T>A (p.Phe541Ile)
c.1609T>A (p.Phe537Ile)
11g.22262200T>CCA379922632ANO5c.1252T>C (p.Phe418Leu)
c.1660T>C (p.Phe554Leu)
n.2696T>C
c.1657T>C (p.Phe553Leu)
c.1702T>C (p.Phe568Leu)
n.2037T>C
c.1699T>C (p.Phe567Leu)
c.1624T>C (p.Phe542Leu)
c.1621T>C (p.Phe541Leu)
c.1609T>C (p.Phe537Leu)
11g.22262200T>GCA379922633ANO5c.1252T>G (p.Phe418Val)
c.1660T>G (p.Phe554Val)
n.2696T>G
c.1657T>G (p.Phe553Val)
c.1702T>G (p.Phe568Val)
n.2037T>G
c.1699T>G (p.Phe567Val)
c.1624T>G (p.Phe542Val)
c.1621T>G (p.Phe541Val)
c.1609T>G (p.Phe537Val)
 COSMIC
11g.22262201T>ACA379922635ANO5c.1253T>A (p.Phe418Tyr)
c.1661T>A (p.Phe554Tyr)
n.2697T>A
c.1658T>A (p.Phe553Tyr)
c.1703T>A (p.Phe568Tyr)
n.2038T>A
c.1700T>A (p.Phe567Tyr)
c.1625T>A (p.Phe542Tyr)
c.1622T>A (p.Phe541Tyr)
c.1610T>A (p.Phe537Tyr)
 dbSNP
11g.22262201T>CCA379922636ANO5c.1253T>C (p.Phe418Ser)
c.1661T>C (p.Phe554Ser)
n.2697T>C
c.1658T>C (p.Phe553Ser)
c.1703T>C (p.Phe568Ser)
n.2038T>C
c.1700T>C (p.Phe567Ser)
c.1625T>C (p.Phe542Ser)
c.1622T>C (p.Phe541Ser)
c.1610T>C (p.Phe537Ser)
11g.22262201T>GCA379922634ANO5c.1253T>G (p.Phe418Cys)
c.1661T>G (p.Phe554Cys)
n.2697T>G
c.1658T>G (p.Phe553Cys)
c.1703T>G (p.Phe568Cys)
n.2038T>G
c.1700T>G (p.Phe567Cys)
c.1625T>G (p.Phe542Cys)
c.1622T>G (p.Phe541Cys)
c.1610T>G (p.Phe537Cys)
11g.22262201T=CA1957419837ANO5c.1253T= (p.Phe418=)
c.1661T= (p.Phe554=)
n.2697T=
c.1658T= (p.Phe553=)
c.1703T= (p.Phe568=)
n.2038T=
c.1700T= (p.Phe567=)
c.1625T= (p.Phe542=)
c.1622T= (p.Phe541=)
c.1610T= (p.Phe537=)
11g.22262202T>ACA379922637ANO5c.1254T>A (p.Phe418Leu)
c.1662T>A (p.Phe554Leu)
n.2698T>A
c.1659T>A (p.Phe553Leu)
c.1704T>A (p.Phe568Leu)
n.2039T>A
c.1701T>A (p.Phe567Leu)
c.1626T>A (p.Phe542Leu)
c.1623T>A (p.Phe541Leu)
c.1611T>A (p.Phe537Leu)
11g.22262202T>CCA473407243ANO5c.1254T>C (p.Phe418=)
c.1662T>C (p.Phe554=)
n.2698T>C
c.1659T>C (p.Phe553=)
c.1704T>C (p.Phe568=)
n.2039T>C
c.1701T>C (p.Phe567=)
c.1626T>C (p.Phe542=)
c.1623T>C (p.Phe541=)
c.1611T>C (p.Phe537=)
11g.22262202T>GCA379922638ANO5c.1254T>G (p.Phe418Leu)
c.1662T>G (p.Phe554Leu)
n.2698T>G
c.1659T>G (p.Phe553Leu)
c.1704T>G (p.Phe568Leu)
n.2039T>G
c.1701T>G (p.Phe567Leu)
c.1626T>G (p.Phe542Leu)
c.1623T>G (p.Phe541Leu)
c.1611T>G (p.Phe537Leu)
 COSMIC
11g.22262203T>ACA379922639ANO5c.1255T>A (p.Tyr419Asn)
c.1663T>A (p.Tyr555Asn)
n.2699T>A
c.1660T>A (p.Tyr554Asn)
c.1705T>A (p.Tyr569Asn)
n.2040T>A
c.1702T>A (p.Tyr568Asn)
c.1627T>A (p.Tyr543Asn)
c.1624T>A (p.Tyr542Asn)
c.1612T>A (p.Tyr538Asn)
11g.22262203T>CCA379922640ANO5c.1255T>C (p.Tyr419His)
c.1663T>C (p.Tyr555His)
n.2699T>C
c.1660T>C (p.Tyr554His)
c.1705T>C (p.Tyr569His)
n.2040T>C
c.1702T>C (p.Tyr568His)
c.1627T>C (p.Tyr543His)
c.1624T>C (p.Tyr542His)
c.1612T>C (p.Tyr538His)
11g.22262203T>GCA379922641ANO5c.1255T>G (p.Tyr419Asp)
c.1663T>G (p.Tyr555Asp)
n.2699T>G
c.1660T>G (p.Tyr554Asp)
c.1705T>G (p.Tyr569Asp)
n.2040T>G
c.1702T>G (p.Tyr568Asp)
c.1627T>G (p.Tyr543Asp)
c.1624T>G (p.Tyr542Asp)
c.1612T>G (p.Tyr538Asp)
11g.22262204A>CCA379922642ANO5c.1256A>C (p.Tyr419Ser)
c.1664A>C (p.Tyr555Ser)
n.2700A>C
c.1661A>C (p.Tyr554Ser)
c.1706A>C (p.Tyr569Ser)
n.2041A>C
c.1703A>C (p.Tyr568Ser)
c.1628A>C (p.Tyr543Ser)
c.1625A>C (p.Tyr542Ser)
c.1613A>C (p.Tyr538Ser)
11g.22262204A>GCA379922643ANO5c.1256A>G (p.Tyr419Cys)
c.1664A>G (p.Tyr555Cys)
n.2700A>G
c.1661A>G (p.Tyr554Cys)
c.1706A>G (p.Tyr569Cys)
n.2041A>G
c.1703A>G (p.Tyr568Cys)
c.1628A>G (p.Tyr543Cys)
c.1625A>G (p.Tyr542Cys)
c.1613A>G (p.Tyr538Cys)
11g.22262204A>TCA379922644ANO5c.1256A>T (p.Tyr419Phe)
c.1664A>T (p.Tyr555Phe)
n.2700A>T
c.1661A>T (p.Tyr554Phe)
c.1706A>T (p.Tyr569Phe)
n.2041A>T
c.1703A>T (p.Tyr568Phe)
c.1628A>T (p.Tyr543Phe)
c.1625A>T (p.Tyr542Phe)
c.1613A>T (p.Tyr538Phe)
11g.22262205C>ACA379922645ANO5c.1257C>A (p.Tyr419Ter)
c.1665C>A (p.Tyr555Ter)
n.2701C>A
c.1662C>A (p.Tyr554Ter)
c.1707C>A (p.Tyr569Ter)
n.2042C>A
c.1704C>A (p.Tyr568Ter)
c.1629C>A (p.Tyr543Ter)
c.1626C>A (p.Tyr542Ter)
c.1614C>A (p.Tyr538Ter)
11g.22262205C=CA1957419838ANO5c.1257C= (p.Tyr419=)
c.1665C= (p.Tyr555=)
n.2701C=
c.1662C= (p.Tyr554=)
c.1707C= (p.Tyr569=)
n.2042C=
c.1704C= (p.Tyr568=)
c.1629C= (p.Tyr543=)
c.1626C= (p.Tyr542=)
c.1614C= (p.Tyr538=)
11g.22262205C>GCA379922646ANO5c.1257C>G (p.Tyr419Ter)
c.1665C>G (p.Tyr555Ter)
n.2701C>G
c.1662C>G (p.Tyr554Ter)
c.1707C>G (p.Tyr569Ter)
n.2042C>G
c.1704C>G (p.Tyr568Ter)
c.1629C>G (p.Tyr543Ter)
c.1626C>G (p.Tyr542Ter)
c.1614C>G (p.Tyr538Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22262205C>TCA473407244ANO5c.1257C>T (p.Tyr419=)
c.1665C>T (p.Tyr555=)
n.2701C>T
c.1662C>T (p.Tyr554=)
c.1707C>T (p.Tyr569=)
n.2042C>T
c.1704C>T (p.Tyr568=)
c.1629C>T (p.Tyr543=)
c.1626C>T (p.Tyr542=)
c.1614C>T (p.Tyr538=)
 dbSNP
11g.22262206T>ACA379922647ANO5c.1258T>A (p.Ser420Thr)
c.1666T>A (p.Ser556Thr)
n.2702T>A
c.1663T>A (p.Ser555Thr)
c.1708T>A (p.Ser570Thr)
n.2043T>A
c.1705T>A (p.Ser569Thr)
c.1630T>A (p.Ser544Thr)
c.1627T>A (p.Ser543Thr)
c.1615T>A (p.Ser539Thr)
11g.22262206T>CCA379922648ANO5c.1258T>C (p.Ser420Pro)
c.1666T>C (p.Ser556Pro)
n.2702T>C
c.1663T>C (p.Ser555Pro)
c.1708T>C (p.Ser570Pro)
n.2043T>C
c.1705T>C (p.Ser569Pro)
c.1630T>C (p.Ser544Pro)
c.1627T>C (p.Ser543Pro)
c.1615T>C (p.Ser539Pro)
11g.22262206T>GCA379922649ANO5c.1258T>G (p.Ser420Ala)
c.1666T>G (p.Ser556Ala)
n.2702T>G
c.1663T>G (p.Ser555Ala)
c.1708T>G (p.Ser570Ala)
n.2043T>G
c.1705T>G (p.Ser569Ala)
c.1630T>G (p.Ser544Ala)
c.1627T>G (p.Ser543Ala)
c.1615T>G (p.Ser539Ala)
11g.22262207C>ACA379922650ANO5c.1259C>A (p.Ser420Ter)
c.1667C>A (p.Ser556Ter)
n.2703C>A
c.1664C>A (p.Ser555Ter)
c.1709C>A (p.Ser570Ter)
n.2044C>A
c.1706C>A (p.Ser569Ter)
c.1631C>A (p.Ser544Ter)
c.1628C>A (p.Ser543Ter)
c.1616C>A (p.Ser539Ter)
11g.22262207C=CA1957419839ANO5c.1259C= (p.Ser420=)
c.1667C= (p.Ser556=)
n.2703C=
c.1664C= (p.Ser555=)
c.1709C= (p.Ser570=)
n.2044C=
c.1706C= (p.Ser569=)
c.1631C= (p.Ser544=)
c.1628C= (p.Ser543=)
c.1616C= (p.Ser539=)
11g.22262207C>GCA201303ANO5c.1259C>G (p.Ser420Ter)
c.1667C>G (p.Ser556Ter)
n.2703C>G
c.1664C>G (p.Ser555Ter)
c.1709C>G (p.Ser570Ter)
n.2044C>G
c.1706C>G (p.Ser569Ter)
c.1631C>G (p.Ser544Ter)
c.1628C>G (p.Ser543Ter)
c.1616C>G (p.Ser539Ter)
 ClinVar dbSNP
11g.22262207C>TCA5923325ANO5c.1259C>T (p.Ser420Leu)
c.1667C>T (p.Ser556Leu)
n.2703C>T
c.1664C>T (p.Ser555Leu)
c.1709C>T (p.Ser570Leu)
n.2044C>T
c.1706C>T (p.Ser569Leu)
c.1631C>T (p.Ser544Leu)
c.1628C>T (p.Ser543Leu)
c.1616C>T (p.Ser539Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262208A>CCA473407246ANO5c.1260A>C (p.Ser420=)
c.1668A>C (p.Ser556=)
n.2704A>C
c.1665A>C (p.Ser555=)
c.1710A>C (p.Ser570=)
n.2045A>C
c.1707A>C (p.Ser569=)
c.1632A>C (p.Ser544=)
c.1629A>C (p.Ser543=)
c.1617A>C (p.Ser539=)
11g.22262208A>GCA473407248ANO5c.1260A>G (p.Ser420=)
c.1668A>G (p.Ser556=)
n.2704A>G
c.1665A>G (p.Ser555=)
c.1710A>G (p.Ser570=)
n.2045A>G
c.1707A>G (p.Ser569=)
c.1632A>G (p.Ser544=)
c.1629A>G (p.Ser543=)
c.1617A>G (p.Ser539=)
 gnomAD v4
11g.22262208A>TCA473407247ANO5c.1260A>T (p.Ser420=)
c.1668A>T (p.Ser556=)
n.2704A>T
c.1665A>T (p.Ser555=)
c.1710A>T (p.Ser570=)
n.2045A>T
c.1707A>T (p.Ser569=)
c.1632A>T (p.Ser544=)
c.1629A>T (p.Ser543=)
c.1617A>T (p.Ser539=)
 gnomAD v4
11g.22262209T>ACA218767991ANO5c.1261T>A (p.Ser421Thr)
c.1669T>A (p.Ser557Thr)
n.2705T>A
c.1666T>A (p.Ser556Thr)
c.1711T>A (p.Ser571Thr)
n.2046T>A
c.1708T>A (p.Ser570Thr)
c.1633T>A (p.Ser545Thr)
c.1630T>A (p.Ser544Thr)
c.1618T>A (p.Ser540Thr)
 dbSNP gnomAD v4
11g.22262209T>CCA379922651ANO5c.1261T>C (p.Ser421Pro)
c.1669T>C (p.Ser557Pro)
n.2705T>C
c.1666T>C (p.Ser556Pro)
c.1711T>C (p.Ser571Pro)
n.2046T>C
c.1708T>C (p.Ser570Pro)
c.1633T>C (p.Ser545Pro)
c.1630T>C (p.Ser544Pro)
c.1618T>C (p.Ser540Pro)
 ClinVar
11g.22262209T>GCA379922652ANO5c.1261T>G (p.Ser421Ala)
c.1669T>G (p.Ser557Ala)
n.2705T>G
c.1666T>G (p.Ser556Ala)
c.1711T>G (p.Ser571Ala)
n.2046T>G
c.1708T>G (p.Ser570Ala)
c.1633T>G (p.Ser545Ala)
c.1630T>G (p.Ser544Ala)
c.1618T>G (p.Ser540Ala)
11g.22262209T=CA1957419840ANO5c.1261T= (p.Ser421=)
c.1669T= (p.Ser557=)
n.2705T=
c.1666T= (p.Ser556=)
c.1711T= (p.Ser571=)
n.2046T=
c.1708T= (p.Ser570=)
c.1633T= (p.Ser545=)
c.1630T= (p.Ser544=)
c.1618T= (p.Ser540=)
11g.22262210C>ACA379922653ANO5c.1262C>A (p.Ser421Tyr)
c.1670C>A (p.Ser557Tyr)
n.2706C>A
c.1667C>A (p.Ser556Tyr)
c.1712C>A (p.Ser571Tyr)
n.2047C>A
c.1709C>A (p.Ser570Tyr)
c.1634C>A (p.Ser545Tyr)
c.1631C>A (p.Ser544Tyr)
c.1619C>A (p.Ser540Tyr)
11g.22262210C=CA1957419841ANO5c.1262C= (p.Ser421=)
c.1670C= (p.Ser557=)
n.2706C=
c.1667C= (p.Ser556=)
c.1712C= (p.Ser571=)
n.2047C=
c.1709C= (p.Ser570=)
c.1634C= (p.Ser545=)
c.1631C= (p.Ser544=)
c.1619C= (p.Ser540=)
11g.22262210C>GCA379922654ANO5c.1262C>G (p.Ser421Cys)
c.1670C>G (p.Ser557Cys)
n.2706C>G
c.1667C>G (p.Ser556Cys)
c.1712C>G (p.Ser571Cys)
n.2047C>G
c.1709C>G (p.Ser570Cys)
c.1634C>G (p.Ser545Cys)
c.1631C>G (p.Ser544Cys)
c.1619C>G (p.Ser540Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.22262210C>TCA379922655ANO5c.1262C>T (p.Ser421Phe)
c.1670C>T (p.Ser557Phe)
n.2706C>T
c.1667C>T (p.Ser556Phe)
c.1712C>T (p.Ser571Phe)
n.2047C>T
c.1709C>T (p.Ser570Phe)
c.1634C>T (p.Ser545Phe)
c.1631C>T (p.Ser544Phe)
c.1619C>T (p.Ser540Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22262211C>ACA473407249ANO5c.1263C>A (p.Ser421=)
c.1671C>A (p.Ser557=)
n.2707C>A
c.1668C>A (p.Ser556=)
c.1713C>A (p.Ser571=)
n.2048C>A
c.1710C>A (p.Ser570=)
c.1635C>A (p.Ser545=)
c.1632C>A (p.Ser544=)
c.1620C>A (p.Ser540=)
11g.22262211C>GCA473407250ANO5c.1263C>G (p.Ser421=)
c.1671C>G (p.Ser557=)
n.2707C>G
c.1668C>G (p.Ser556=)
c.1713C>G (p.Ser571=)
n.2048C>G
c.1710C>G (p.Ser570=)
c.1635C>G (p.Ser545=)
c.1632C>G (p.Ser544=)
c.1620C>G (p.Ser540=)
11g.22262211C>TCA473407251ANO5c.1263C>T (p.Ser421=)
c.1671C>T (p.Ser557=)
n.2707C>T
c.1668C>T (p.Ser556=)
c.1713C>T (p.Ser571=)
n.2048C>T
c.1710C>T (p.Ser570=)
c.1635C>T (p.Ser545=)
c.1632C>T (p.Ser544=)
c.1620C>T (p.Ser540=)
11g.22262212T>ACA379922656ANO5c.1264T>A (p.Cys422Ser)
c.1672T>A (p.Cys558Ser)
n.2708T>A
c.1669T>A (p.Cys557Ser)
c.1714T>A (p.Cys572Ser)
n.2049T>A
c.1711T>A (p.Cys571Ser)
c.1636T>A (p.Cys546Ser)
c.1633T>A (p.Cys545Ser)
c.1621T>A (p.Cys541Ser)
11g.22262212T>CCA379922657ANO5c.1264T>C (p.Cys422Arg)
c.1672T>C (p.Cys558Arg)
n.2708T>C
c.1669T>C (p.Cys557Arg)
c.1714T>C (p.Cys572Arg)
n.2049T>C
c.1711T>C (p.Cys571Arg)
c.1636T>C (p.Cys546Arg)
c.1633T>C (p.Cys545Arg)
c.1621T>C (p.Cys541Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.22262212T>GCA379922658ANO5c.1264T>G (p.Cys422Gly)
c.1672T>G (p.Cys558Gly)
n.2708T>G
c.1669T>G (p.Cys557Gly)
c.1714T>G (p.Cys572Gly)
n.2049T>G
c.1711T>G (p.Cys571Gly)
c.1636T>G (p.Cys546Gly)
c.1633T>G (p.Cys545Gly)
c.1621T>G (p.Cys541Gly)
11g.22262212T=CA1957419842ANO5c.1264T= (p.Cys422=)
c.1672T= (p.Cys558=)
n.2708T=
c.1669T= (p.Cys557=)
c.1714T= (p.Cys572=)
n.2049T=
c.1711T= (p.Cys571=)
c.1636T= (p.Cys546=)
c.1633T= (p.Cys545=)
c.1621T= (p.Cys541=)
11g.22262213G>ACA379922659ANO5c.1265G>A (p.Cys422Tyr)
c.1673G>A (p.Cys558Tyr)
n.2709G>A
c.1670G>A (p.Cys557Tyr)
c.1715G>A (p.Cys572Tyr)
n.2050G>A
c.1712G>A (p.Cys571Tyr)
c.1637G>A (p.Cys546Tyr)
c.1634G>A (p.Cys545Tyr)
c.1622G>A (p.Cys541Tyr)
11g.22262213G>CCA379922660ANO5c.1265G>C (p.Cys422Ser)
c.1673G>C (p.Cys558Ser)
n.2709G>C
c.1670G>C (p.Cys557Ser)
c.1715G>C (p.Cys572Ser)
n.2050G>C
c.1712G>C (p.Cys571Ser)
c.1637G>C (p.Cys546Ser)
c.1634G>C (p.Cys545Ser)
c.1622G>C (p.Cys541Ser)
 gnomAD v4
11g.22262213G>TCA379922661ANO5c.1265G>T (p.Cys422Phe)
c.1673G>T (p.Cys558Phe)
n.2709G>T
c.1670G>T (p.Cys557Phe)
c.1715G>T (p.Cys572Phe)
n.2050G>T
c.1712G>T (p.Cys571Phe)
c.1637G>T (p.Cys546Phe)
c.1634G>T (p.Cys545Phe)
c.1622G>T (p.Cys541Phe)
11g.22262214C>ACA5923326ANO5c.1266C>A (p.Cys422Ter)
c.1674C>A (p.Cys558Ter)
n.2710C>A
c.1671C>A (p.Cys557Ter)
c.1716C>A (p.Cys572Ter)
n.2051C>A
c.1713C>A (p.Cys571Ter)
c.1638C>A (p.Cys546Ter)
c.1635C>A (p.Cys545Ter)
c.1623C>A (p.Cys541Ter)
 ClinVar dbSNP ExAC gnomAD v2
11g.22262214C=CA1957419843ANO5c.1266C= (p.Cys422=)
c.1674C= (p.Cys558=)
n.2710C=
c.1671C= (p.Cys557=)
c.1716C= (p.Cys572=)
n.2051C=
c.1713C= (p.Cys571=)
c.1638C= (p.Cys546=)
c.1635C= (p.Cys545=)
c.1623C= (p.Cys541=)
11g.22262214C>GCA379922662ANO5c.1266C>G (p.Cys422Trp)
c.1674C>G (p.Cys558Trp)
n.2710C>G
c.1671C>G (p.Cys557Trp)
c.1716C>G (p.Cys572Trp)
n.2051C>G
c.1713C>G (p.Cys571Trp)
c.1638C>G (p.Cys546Trp)
c.1635C>G (p.Cys545Trp)
c.1623C>G (p.Cys541Trp)
11g.22262214C>TCA5923327ANO5c.1266C>T (p.Cys422=)
c.1674C>T (p.Cys558=)
n.2710C>T
c.1671C>T (p.Cys557=)
c.1716C>T (p.Cys572=)
n.2051C>T
c.1713C>T (p.Cys571=)
c.1638C>T (p.Cys546=)
c.1635C>T (p.Cys545=)
c.1623C>T (p.Cys541=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262215T>ACA379922663ANO5c.1267T>A (p.Phe423Ile)
c.1675T>A (p.Phe559Ile)
n.2711T>A
c.1672T>A (p.Phe558Ile)
c.1717T>A (p.Phe573Ile)
n.2052T>A
c.1714T>A (p.Phe572Ile)
c.1639T>A (p.Phe547Ile)
c.1636T>A (p.Phe546Ile)
c.1624T>A (p.Phe542Ile)
 gnomAD v4
11g.22262215T>CCA379922665ANO5c.1267T>C (p.Phe423Leu)
c.1675T>C (p.Phe559Leu)
n.2711T>C
c.1672T>C (p.Phe558Leu)
c.1717T>C (p.Phe573Leu)
n.2052T>C
c.1714T>C (p.Phe572Leu)
c.1639T>C (p.Phe547Leu)
c.1636T>C (p.Phe546Leu)
c.1624T>C (p.Phe542Leu)
11g.22262215T>GCA379922664ANO5c.1267T>G (p.Phe423Val)
c.1675T>G (p.Phe559Val)
n.2711T>G
c.1672T>G (p.Phe558Val)
c.1717T>G (p.Phe573Val)
n.2052T>G
c.1714T>G (p.Phe572Val)
c.1639T>G (p.Phe547Val)
c.1636T>G (p.Phe546Val)
c.1624T>G (p.Phe542Val)
11g.22262216T>ACA379922666ANO5c.1268T>A (p.Phe423Tyr)
c.1676T>A (p.Phe559Tyr)
n.2712T>A
c.1673T>A (p.Phe558Tyr)
c.1718T>A (p.Phe573Tyr)
n.2053T>A
c.1715T>A (p.Phe572Tyr)
c.1640T>A (p.Phe547Tyr)
c.1637T>A (p.Phe546Tyr)
c.1625T>A (p.Phe542Tyr)
11g.22262216T>CCA379922667ANO5c.1268T>C (p.Phe423Ser)
c.1676T>C (p.Phe559Ser)
n.2712T>C
c.1673T>C (p.Phe558Ser)
c.1718T>C (p.Phe573Ser)
n.2053T>C
c.1715T>C (p.Phe572Ser)
c.1640T>C (p.Phe547Ser)
c.1637T>C (p.Phe546Ser)
c.1625T>C (p.Phe542Ser)
 ClinVar dbSNP gnomAD v4
11g.22262216T>GCA379922668ANO5c.1268T>G (p.Phe423Cys)
c.1676T>G (p.Phe559Cys)
n.2712T>G
c.1673T>G (p.Phe558Cys)
c.1718T>G (p.Phe573Cys)
n.2053T>G
c.1715T>G (p.Phe572Cys)
c.1640T>G (p.Phe547Cys)
c.1637T>G (p.Phe546Cys)
c.1625T>G (p.Phe542Cys)
11g.22262217C>ACA379922669ANO5c.1269C>A (p.Phe423Leu)
c.1677C>A (p.Phe559Leu)
n.2713C>A
c.1674C>A (p.Phe558Leu)
c.1719C>A (p.Phe573Leu)
n.2054C>A
c.1716C>A (p.Phe572Leu)
c.1641C>A (p.Phe547Leu)
c.1638C>A (p.Phe546Leu)
c.1626C>A (p.Phe542Leu)
11g.22262217C>GCA379922670ANO5c.1269C>G (p.Phe423Leu)
c.1677C>G (p.Phe559Leu)
n.2713C>G
c.1674C>G (p.Phe558Leu)
c.1719C>G (p.Phe573Leu)
n.2054C>G
c.1716C>G (p.Phe572Leu)
c.1641C>G (p.Phe547Leu)
c.1638C>G (p.Phe546Leu)
c.1626C>G (p.Phe542Leu)
11g.22262217C>TCA473407252ANO5c.1269C>T (p.Phe423=)
c.1677C>T (p.Phe559=)
n.2713C>T
c.1674C>T (p.Phe558=)
c.1719C>T (p.Phe573=)
n.2054C>T
c.1716C>T (p.Phe572=)
c.1641C>T (p.Phe547=)
c.1638C>T (p.Phe546=)
c.1626C>T (p.Phe542=)
 COSMIC
11g.22262218T>ACA379922671ANO5c.1270T>A (p.Tyr424Asn)
c.1678T>A (p.Tyr560Asn)
n.2714T>A
c.1675T>A (p.Tyr559Asn)
c.1720T>A (p.Tyr574Asn)
n.2055T>A
c.1717T>A (p.Tyr573Asn)
c.1642T>A (p.Tyr548Asn)
c.1639T>A (p.Tyr547Asn)
c.1627T>A (p.Tyr543Asn)
11g.22262218T>CCA379922672ANO5c.1270T>C (p.Tyr424His)
c.1678T>C (p.Tyr560His)
n.2714T>C
c.1675T>C (p.Tyr559His)
c.1720T>C (p.Tyr574His)
n.2055T>C
c.1717T>C (p.Tyr573His)
c.1642T>C (p.Tyr548His)
c.1639T>C (p.Tyr547His)
c.1627T>C (p.Tyr543His)
11g.22262218T>GCA379922673ANO5c.1270T>G (p.Tyr424Asp)
c.1678T>G (p.Tyr560Asp)
n.2714T>G
c.1675T>G (p.Tyr559Asp)
c.1720T>G (p.Tyr574Asp)
n.2055T>G
c.1717T>G (p.Tyr573Asp)
c.1642T>G (p.Tyr548Asp)
c.1639T>G (p.Tyr547Asp)
c.1627T>G (p.Tyr543Asp)
11g.22262219A>CCA379922674ANO5c.1271A>C (p.Tyr424Ser)
c.1679A>C (p.Tyr560Ser)
n.2715A>C
c.1676A>C (p.Tyr559Ser)
c.1721A>C (p.Tyr574Ser)
n.2056A>C
c.1718A>C (p.Tyr573Ser)
c.1643A>C (p.Tyr548Ser)
c.1640A>C (p.Tyr547Ser)
c.1628A>C (p.Tyr543Ser)
11g.22262219A>GCA379922675ANO5c.1271A>G (p.Tyr424Cys)
c.1679A>G (p.Tyr560Cys)
n.2715A>G
c.1676A>G (p.Tyr559Cys)
c.1721A>G (p.Tyr574Cys)
n.2056A>G
c.1718A>G (p.Tyr573Cys)
c.1643A>G (p.Tyr548Cys)
c.1640A>G (p.Tyr547Cys)
c.1628A>G (p.Tyr543Cys)
 ClinVar dbSNP
11g.22262219A>TCA379922676ANO5c.1271A>T (p.Tyr424Phe)
c.1679A>T (p.Tyr560Phe)
n.2715A>T
c.1676A>T (p.Tyr559Phe)
c.1721A>T (p.Tyr574Phe)
n.2056A>T
c.1718A>T (p.Tyr573Phe)
c.1643A>T (p.Tyr548Phe)
c.1640A>T (p.Tyr547Phe)
c.1628A>T (p.Tyr543Phe)
11g.22262220C>ACA379922678ANO5c.1272C>A (p.Tyr424Ter)
c.1680C>A (p.Tyr560Ter)
n.2716C>A
c.1677C>A (p.Tyr559Ter)
c.1722C>A (p.Tyr574Ter)
n.2057C>A
c.1719C>A (p.Tyr573Ter)
c.1644C>A (p.Tyr548Ter)
c.1641C>A (p.Tyr547Ter)
c.1629C>A (p.Tyr543Ter)
 COSMIC
11g.22262220C=CA1957419844ANO5c.1272C= (p.Tyr424=)
c.1680C= (p.Tyr560=)
n.2716C=
c.1677C= (p.Tyr559=)
c.1722C= (p.Tyr574=)
n.2057C=
c.1719C= (p.Tyr573=)
c.1644C= (p.Tyr548=)
c.1641C= (p.Tyr547=)
c.1629C= (p.Tyr543=)
11g.22262220C>GCA379922677ANO5c.1272C>G (p.Tyr424Ter)
c.1680C>G (p.Tyr560Ter)
n.2716C>G
c.1677C>G (p.Tyr559Ter)
c.1722C>G (p.Tyr574Ter)
n.2057C>G
c.1719C>G (p.Tyr573Ter)
c.1644C>G (p.Tyr548Ter)
c.1641C>G (p.Tyr547Ter)
c.1629C>G (p.Tyr543Ter)
11g.22262220C>TCA5923328ANO5c.1272C>T (p.Tyr424=)
c.1680C>T (p.Tyr560=)
n.2716C>T
c.1677C>T (p.Tyr559=)
c.1722C>T (p.Tyr574=)
n.2057C>T
c.1719C>T (p.Tyr573=)
c.1644C>T (p.Tyr548=)
c.1641C>T (p.Tyr547=)
c.1629C>T (p.Tyr543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262221G>ACA5923329ANO5c.1273G>A (p.Val425Ile)
c.1681G>A (p.Val561Ile)
n.2717G>A
c.1678G>A (p.Val560Ile)
c.1723G>A (p.Val575Ile)
n.2058G>A
c.1720G>A (p.Val574Ile)
c.1645G>A (p.Val549Ile)
c.1642G>A (p.Val548Ile)
c.1630G>A (p.Val544Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262221G>CCA379922679ANO5c.1273G>C (p.Val425Leu)
c.1681G>C (p.Val561Leu)
n.2717G>C
c.1678G>C (p.Val560Leu)
c.1723G>C (p.Val575Leu)
n.2058G>C
c.1720G>C (p.Val574Leu)
c.1645G>C (p.Val549Leu)
c.1642G>C (p.Val548Leu)
c.1630G>C (p.Val544Leu)
11g.22262221G=CA1957419845ANO5c.1273G= (p.Val425=)
c.1681G= (p.Val561=)
n.2717G=
c.1678G= (p.Val560=)
c.1723G= (p.Val575=)
n.2058G=
c.1720G= (p.Val574=)
c.1645G= (p.Val549=)
c.1642G= (p.Val548=)
c.1630G= (p.Val544=)
11g.22262221G>TCA5923330ANO5c.1273G>T (p.Val425Leu)
c.1681G>T (p.Val561Leu)
n.2717G>T
c.1678G>T (p.Val560Leu)
c.1723G>T (p.Val575Leu)
n.2058G>T
c.1720G>T (p.Val574Leu)
c.1645G>T (p.Val549Leu)
c.1642G>T (p.Val548Leu)
c.1630G>T (p.Val544Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262222T>ACA379922680ANO5c.1274T>A (p.Val425Glu)
c.1682T>A (p.Val561Glu)
n.2718T>A
c.1679T>A (p.Val560Glu)
c.1724T>A (p.Val575Glu)
n.2059T>A
c.1721T>A (p.Val574Glu)
c.1646T>A (p.Val549Glu)
c.1643T>A (p.Val548Glu)
c.1631T>A (p.Val544Glu)
11g.22262222T>CCA379922681ANO5c.1274T>C (p.Val425Ala)
c.1682T>C (p.Val561Ala)
n.2718T>C
c.1679T>C (p.Val560Ala)
c.1724T>C (p.Val575Ala)
n.2059T>C
c.1721T>C (p.Val574Ala)
c.1646T>C (p.Val549Ala)
c.1643T>C (p.Val548Ala)
c.1631T>C (p.Val544Ala)
11g.22262222T>GCA379922682ANO5c.1274T>G (p.Val425Gly)
c.1682T>G (p.Val561Gly)
n.2718T>G
c.1679T>G (p.Val560Gly)
c.1724T>G (p.Val575Gly)
n.2059T>G
c.1721T>G (p.Val574Gly)
c.1646T>G (p.Val549Gly)
c.1643T>G (p.Val548Gly)
c.1631T>G (p.Val544Gly)
11g.22262223A>CCA473407253ANO5c.1275A>C (p.Val425=)
c.1683A>C (p.Val561=)
n.2719A>C
c.1680A>C (p.Val560=)
c.1725A>C (p.Val575=)
n.2060A>C
c.1722A>C (p.Val574=)
c.1647A>C (p.Val549=)
c.1644A>C (p.Val548=)
c.1632A>C (p.Val544=)
11g.22262223A>GCA473407254ANO5c.1275A>G (p.Val425=)
c.1683A>G (p.Val561=)
n.2719A>G
c.1680A>G (p.Val560=)
c.1725A>G (p.Val575=)
n.2060A>G
c.1722A>G (p.Val574=)
c.1647A>G (p.Val549=)
c.1644A>G (p.Val548=)
c.1632A>G (p.Val544=)
11g.22262223A>TCA473407255ANO5c.1275A>T (p.Val425=)
c.1683A>T (p.Val561=)
n.2719A>T
c.1680A>T (p.Val560=)
c.1725A>T (p.Val575=)
n.2060A>T
c.1722A>T (p.Val574=)
c.1647A>T (p.Val549=)
c.1644A>T (p.Val548=)
c.1632A>T (p.Val544=)
 COSMIC
11g.22262224G>ACA218768033ANO5c.1276G>A (p.Ala426Thr)
c.1684G>A (p.Ala562Thr)
n.2720G>A
c.1681G>A (p.Ala561Thr)
c.1726G>A (p.Ala576Thr)
n.2061G>A
c.1723G>A (p.Ala575Thr)
c.1648G>A (p.Ala550Thr)
c.1645G>A (p.Ala549Thr)
c.1633G>A (p.Ala545Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22262224G>CCA379922683ANO5c.1276G>C (p.Ala426Pro)
c.1684G>C (p.Ala562Pro)
n.2720G>C
c.1681G>C (p.Ala561Pro)
c.1726G>C (p.Ala576Pro)
n.2061G>C
c.1723G>C (p.Ala575Pro)
c.1648G>C (p.Ala550Pro)
c.1645G>C (p.Ala549Pro)
c.1633G>C (p.Ala545Pro)
11g.22262224G=CA1957419846ANO5c.1276G= (p.Ala426=)
c.1684G= (p.Ala562=)
n.2720G=
c.1681G= (p.Ala561=)
c.1726G= (p.Ala576=)
n.2061G=
c.1723G= (p.Ala575=)
c.1648G= (p.Ala550=)
c.1645G= (p.Ala549=)
c.1633G= (p.Ala545=)
11g.22262224G>TCA379922684ANO5c.1276G>T (p.Ala426Ser)
c.1684G>T (p.Ala562Ser)
n.2720G>T
c.1681G>T (p.Ala561Ser)
c.1726G>T (p.Ala576Ser)
n.2061G>T
c.1723G>T (p.Ala575Ser)
c.1648G>T (p.Ala550Ser)
c.1645G>T (p.Ala549Ser)
c.1633G>T (p.Ala545Ser)
11g.22262225C>ACA379922685ANO5c.1277C>A (p.Ala426Asp)
c.1685C>A (p.Ala562Asp)
n.2721C>A
c.1682C>A (p.Ala561Asp)
c.1727C>A (p.Ala576Asp)
n.2062C>A
c.1724C>A (p.Ala575Asp)
c.1649C>A (p.Ala550Asp)
c.1646C>A (p.Ala549Asp)
c.1634C>A (p.Ala545Asp)
11g.22262225C>GCA379922686ANO5c.1277C>G (p.Ala426Gly)
c.1685C>G (p.Ala562Gly)
n.2721C>G
c.1682C>G (p.Ala561Gly)
c.1727C>G (p.Ala576Gly)
n.2062C>G
c.1724C>G (p.Ala575Gly)
c.1649C>G (p.Ala550Gly)
c.1646C>G (p.Ala549Gly)
c.1634C>G (p.Ala545Gly)
11g.22262225C>TCA379922687ANO5c.1277C>T (p.Ala426Val)
c.1685C>T (p.Ala562Val)
n.2721C>T
c.1682C>T (p.Ala561Val)
c.1727C>T (p.Ala576Val)
n.2062C>T
c.1724C>T (p.Ala575Val)
c.1649C>T (p.Ala550Val)
c.1646C>T (p.Ala549Val)
c.1634C>T (p.Ala545Val)
11g.22262226T>ACA473407256ANO5c.1278T>A (p.Ala426=)
c.1686T>A (p.Ala562=)
n.2722T>A
c.1683T>A (p.Ala561=)
c.1728T>A (p.Ala576=)
n.2063T>A
c.1725T>A (p.Ala575=)
c.1650T>A (p.Ala550=)
c.1647T>A (p.Ala549=)
c.1635T>A (p.Ala545=)
11g.22262226T>CCA473407257ANO5c.1278T>C (p.Ala426=)
c.1686T>C (p.Ala562=)
n.2722T>C
c.1683T>C (p.Ala561=)
c.1728T>C (p.Ala576=)
n.2063T>C
c.1725T>C (p.Ala575=)
c.1650T>C (p.Ala550=)
c.1647T>C (p.Ala549=)
c.1635T>C (p.Ala545=)
 ClinVar dbSNP
11g.22262226T>GCA473407258ANO5c.1278T>G (p.Ala426=)
c.1686T>G (p.Ala562=)
n.2722T>G
c.1683T>G (p.Ala561=)
c.1728T>G (p.Ala576=)
n.2063T>G
c.1725T>G (p.Ala575=)
c.1650T>G (p.Ala550=)
c.1647T>G (p.Ala549=)
c.1635T>G (p.Ala545=)
11g.22262227T>ACA379922690ANO5c.1279T>A (p.Phe427Ile)
c.1687T>A (p.Phe563Ile)
n.2723T>A
c.1684T>A (p.Phe562Ile)
c.1729T>A (p.Phe577Ile)
n.2064T>A
c.1726T>A (p.Phe576Ile)
c.1651T>A (p.Phe551Ile)
c.1648T>A (p.Phe550Ile)
c.1636T>A (p.Phe546Ile)
11g.22262227T>CCA379922689ANO5c.1279T>C (p.Phe427Leu)
c.1687T>C (p.Phe563Leu)
n.2723T>C
c.1684T>C (p.Phe562Leu)
c.1729T>C (p.Phe577Leu)
n.2064T>C
c.1726T>C (p.Phe576Leu)
c.1651T>C (p.Phe551Leu)
c.1648T>C (p.Phe550Leu)
c.1636T>C (p.Phe546Leu)
11g.22262227T>GCA379922688ANO5c.1279T>G (p.Phe427Val)
c.1687T>G (p.Phe563Val)
n.2723T>G
c.1684T>G (p.Phe562Val)
c.1729T>G (p.Phe577Val)
n.2064T>G
c.1726T>G (p.Phe576Val)
c.1651T>G (p.Phe551Val)
c.1648T>G (p.Phe550Val)
c.1636T>G (p.Phe546Val)
11g.22262228T>ACA379922691ANO5c.1280T>A (p.Phe427Tyr)
c.1688T>A (p.Phe563Tyr)
n.2724T>A
c.1685T>A (p.Phe562Tyr)
c.1730T>A (p.Phe577Tyr)
n.2065T>A
c.1727T>A (p.Phe576Tyr)
c.1652T>A (p.Phe551Tyr)
c.1649T>A (p.Phe550Tyr)
c.1637T>A (p.Phe546Tyr)
11g.22262228T>CCA5923331ANO5c.1280T>C (p.Phe427Ser)
c.1688T>C (p.Phe563Ser)
n.2724T>C
c.1685T>C (p.Phe562Ser)
c.1730T>C (p.Phe577Ser)
n.2065T>C
c.1727T>C (p.Phe576Ser)
c.1652T>C (p.Phe551Ser)
c.1649T>C (p.Phe550Ser)
c.1637T>C (p.Phe546Ser)
 dbSNP ExAC gnomAD v2
11g.22262228T>GCA379922692ANO5c.1280T>G (p.Phe427Cys)
c.1688T>G (p.Phe563Cys)
n.2724T>G
c.1685T>G (p.Phe562Cys)
c.1730T>G (p.Phe577Cys)
n.2065T>G
c.1727T>G (p.Phe576Cys)
c.1652T>G (p.Phe551Cys)
c.1649T>G (p.Phe550Cys)
c.1637T>G (p.Phe546Cys)
11g.22262228T=CA1957419847ANO5c.1280T= (p.Phe427=)
c.1688T= (p.Phe563=)
n.2724T=
c.1685T= (p.Phe562=)
c.1730T= (p.Phe577=)
n.2065T=
c.1727T= (p.Phe576=)
c.1652T= (p.Phe551=)
c.1649T= (p.Phe550=)
c.1637T= (p.Phe546=)
11g.22262229C>ACA379922693ANO5c.1281C>A (p.Phe427Leu)
c.1689C>A (p.Phe563Leu)
n.2725C>A
c.1686C>A (p.Phe562Leu)
c.1731C>A (p.Phe577Leu)
n.2066C>A
c.1728C>A (p.Phe576Leu)
c.1653C>A (p.Phe551Leu)
c.1650C>A (p.Phe550Leu)
c.1638C>A (p.Phe546Leu)
11g.22262229C>GCA379922694ANO5c.1281C>G (p.Phe427Leu)
c.1689C>G (p.Phe563Leu)
n.2725C>G
c.1686C>G (p.Phe562Leu)
c.1731C>G (p.Phe577Leu)
n.2066C>G
c.1728C>G (p.Phe576Leu)
c.1653C>G (p.Phe551Leu)
c.1650C>G (p.Phe550Leu)
c.1638C>G (p.Phe546Leu)
11g.22262229C>TCA473407259ANO5c.1281C>T (p.Phe427=)
c.1689C>T (p.Phe563=)
n.2725C>T
c.1686C>T (p.Phe562=)
c.1731C>T (p.Phe577=)
n.2066C>T
c.1728C>T (p.Phe576=)
c.1653C>T (p.Phe551=)
c.1650C>T (p.Phe550=)
c.1638C>T (p.Phe546=)
11g.22262230T>ACA379922695ANO5c.1282T>A (p.Phe428Ile)
c.1690T>A (p.Phe564Ile)
n.2726T>A
c.1687T>A (p.Phe563Ile)
c.1732T>A (p.Phe578Ile)
n.2067T>A
c.1729T>A (p.Phe577Ile)
c.1654T>A (p.Phe552Ile)
c.1651T>A (p.Phe551Ile)
c.1639T>A (p.Phe547Ile)
11g.22262230T>CCA379922696ANO5c.1282T>C (p.Phe428Leu)
c.1690T>C (p.Phe564Leu)
n.2726T>C
c.1687T>C (p.Phe563Leu)
c.1732T>C (p.Phe578Leu)
n.2067T>C
c.1729T>C (p.Phe577Leu)
c.1654T>C (p.Phe552Leu)
c.1651T>C (p.Phe551Leu)
c.1639T>C (p.Phe547Leu)
11g.22262230T>GCA379922697ANO5c.1282T>G (p.Phe428Val)
c.1690T>G (p.Phe564Val)
n.2726T>G
c.1687T>G (p.Phe563Val)
c.1732T>G (p.Phe578Val)
n.2067T>G
c.1729T>G (p.Phe577Val)
c.1654T>G (p.Phe552Val)
c.1651T>G (p.Phe551Val)
c.1639T>G (p.Phe547Val)
11g.22262231T>ACA379922698ANO5c.1283T>A (p.Phe428Tyr)
c.1691T>A (p.Phe564Tyr)
n.2727T>A
c.1688T>A (p.Phe563Tyr)
c.1733T>A (p.Phe578Tyr)
n.2068T>A
c.1730T>A (p.Phe577Tyr)
c.1655T>A (p.Phe552Tyr)
c.1652T>A (p.Phe551Tyr)
c.1640T>A (p.Phe547Tyr)
11g.22262231T>CCA232785ANO5c.1283T>C (p.Phe428Ser)
c.1691T>C (p.Phe564Ser)
n.2727T>C
c.1688T>C (p.Phe563Ser)
c.1733T>C (p.Phe578Ser)
n.2068T>C
c.1730T>C (p.Phe577Ser)
c.1655T>C (p.Phe552Ser)
c.1652T>C (p.Phe551Ser)
c.1640T>C (p.Phe547Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22262231T>GCA379922699ANO5c.1283T>G (p.Phe428Cys)
c.1691T>G (p.Phe564Cys)
n.2727T>G
c.1688T>G (p.Phe563Cys)
c.1733T>G (p.Phe578Cys)
n.2068T>G
c.1730T>G (p.Phe577Cys)
c.1655T>G (p.Phe552Cys)
c.1652T>G (p.Phe551Cys)
c.1640T>G (p.Phe547Cys)
11g.22262231T=CA1957419848ANO5c.1283T= (p.Phe428=)
c.1691T= (p.Phe564=)
n.2727T=
c.1688T= (p.Phe563=)
c.1733T= (p.Phe578=)
n.2068T=
c.1730T= (p.Phe577=)
c.1655T= (p.Phe552=)
c.1652T= (p.Phe551=)
c.1640T= (p.Phe547=)
11g.22262232T>ACA379922700ANO5c.1284T>A (p.Phe428Leu)
c.1692T>A (p.Phe564Leu)
n.2728T>A
c.1689T>A (p.Phe563Leu)
c.1734T>A (p.Phe578Leu)
n.2069T>A
c.1731T>A (p.Phe577Leu)
c.1656T>A (p.Phe552Leu)
c.1653T>A (p.Phe551Leu)
c.1641T>A (p.Phe547Leu)
11g.22262232T>CCA473407260ANO5c.1284T>C (p.Phe428=)
c.1692T>C (p.Phe564=)
n.2728T>C
c.1689T>C (p.Phe563=)
c.1734T>C (p.Phe578=)
n.2069T>C
c.1731T>C (p.Phe577=)
c.1656T>C (p.Phe552=)
c.1653T>C (p.Phe551=)
c.1641T>C (p.Phe547=)
 ClinVar
11g.22262232T>GCA379922701ANO5c.1284T>G (p.Phe428Leu)
c.1692T>G (p.Phe564Leu)
n.2728T>G
c.1689T>G (p.Phe563Leu)
c.1734T>G (p.Phe578Leu)
n.2069T>G
c.1731T>G (p.Phe577Leu)
c.1656T>G (p.Phe552Leu)
c.1653T>G (p.Phe551Leu)
c.1641T>G (p.Phe547Leu)
11g.22262232T=CA1957419849ANO5c.1284T= (p.Phe428=)
c.1692T= (p.Phe564=)
n.2728T=
c.1689T= (p.Phe563=)
c.1734T= (p.Phe578=)
n.2069T=
c.1731T= (p.Phe577=)
c.1656T= (p.Phe552=)
c.1653T= (p.Phe551=)
c.1641T= (p.Phe547=)
11g.22262233A>CCA379922702ANO5c.1285A>C (p.Lys429Gln)
c.1693A>C (p.Lys565Gln)
n.2729A>C
c.1690A>C (p.Lys564Gln)
c.1735A>C (p.Lys579Gln)
n.2070A>C
c.1732A>C (p.Lys578Gln)
c.1657A>C (p.Lys553Gln)
c.1654A>C (p.Lys552Gln)
c.1642A>C (p.Lys548Gln)
11g.22262233A>GCA379922704ANO5c.1285A>G (p.Lys429Glu)
c.1693A>G (p.Lys565Glu)
n.2729A>G
c.1690A>G (p.Lys564Glu)
c.1735A>G (p.Lys579Glu)
n.2070A>G
c.1732A>G (p.Lys578Glu)
c.1657A>G (p.Lys553Glu)
c.1654A>G (p.Lys552Glu)
c.1642A>G (p.Lys548Glu)
 gnomAD v4
11g.22262233A>TCA379922703ANO5c.1285A>T (p.Lys429Ter)
c.1693A>T (p.Lys565Ter)
n.2729A>T
c.1690A>T (p.Lys564Ter)
c.1735A>T (p.Lys579Ter)
n.2070A>T
c.1732A>T (p.Lys578Ter)
c.1657A>T (p.Lys553Ter)
c.1654A>T (p.Lys552Ter)
c.1642A>T (p.Lys548Ter)
11g.22262235dupCA5923332ANO5c.1287dup (p.Gly430ArgfsTer15)
c.1695dup (p.Gly566ArgfsTer15)
n.2731dup
c.1692dup (p.Gly565ArgfsTer15)
c.1737dup (p.Gly580ArgfsTer15)
n.2072dup
c.1734dup (p.Gly579ArgfsTer15)
c.1659dup (p.Gly554ArgfsTer15)
c.1656dup (p.Gly553ArgfsTer15)
c.1644dup (p.Gly549ArgfsTer15)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262234A=CA1957419850ANO5c.1286A= (p.Lys429=)
c.1694A= (p.Lys565=)
n.2730A=
c.1691A= (p.Lys564=)
c.1736A= (p.Lys579=)
n.2071A=
c.1733A= (p.Lys578=)
c.1658A= (p.Lys553=)
c.1655A= (p.Lys552=)
c.1643A= (p.Lys548=)
11g.22262234A>CCA379922705ANO5c.1286A>C (p.Lys429Thr)
c.1694A>C (p.Lys565Thr)
n.2730A>C
c.1691A>C (p.Lys564Thr)
c.1736A>C (p.Lys579Thr)
n.2071A>C
c.1733A>C (p.Lys578Thr)
c.1658A>C (p.Lys553Thr)
c.1655A>C (p.Lys552Thr)
c.1643A>C (p.Lys548Thr)
11g.22262234A>GCA379922706ANO5c.1286A>G (p.Lys429Arg)
c.1694A>G (p.Lys565Arg)
n.2730A>G
c.1691A>G (p.Lys564Arg)
c.1736A>G (p.Lys579Arg)
n.2071A>G
c.1733A>G (p.Lys578Arg)
c.1658A>G (p.Lys553Arg)
c.1655A>G (p.Lys552Arg)
c.1643A>G (p.Lys548Arg)
11g.22262234A>TCA379922707ANO5c.1286A>T (p.Lys429Ile)
c.1694A>T (p.Lys565Ile)
n.2730A>T
c.1691A>T (p.Lys564Ile)
c.1736A>T (p.Lys579Ile)
n.2071A>T
c.1733A>T (p.Lys578Ile)
c.1658A>T (p.Lys553Ile)
c.1655A>T (p.Lys552Ile)
c.1643A>T (p.Lys548Ile)
 ClinVar dbSNP
11g.22262235A>CCA379922708ANO5c.1287A>C (p.Lys429Asn)
c.1695A>C (p.Lys565Asn)
n.2731A>C
c.1692A>C (p.Lys564Asn)
c.1737A>C (p.Lys579Asn)
n.2072A>C
c.1734A>C (p.Lys578Asn)
c.1659A>C (p.Lys553Asn)
c.1656A>C (p.Lys552Asn)
c.1644A>C (p.Lys548Asn)
11g.22262235A>GCA473407261ANO5c.1287A>G (p.Lys429=)
c.1695A>G (p.Lys565=)
n.2731A>G
c.1692A>G (p.Lys564=)
c.1737A>G (p.Lys579=)
n.2072A>G
c.1734A>G (p.Lys578=)
c.1659A>G (p.Lys553=)
c.1656A>G (p.Lys552=)
c.1644A>G (p.Lys548=)
11g.22262235A>TCA379922709ANO5c.1287A>T (p.Lys429Asn)
c.1695A>T (p.Lys565Asn)
n.2731A>T
c.1692A>T (p.Lys564Asn)
c.1737A>T (p.Lys579Asn)
n.2072A>T
c.1734A>T (p.Lys578Asn)
c.1659A>T (p.Lys553Asn)
c.1656A>T (p.Lys552Asn)
c.1644A>T (p.Lys548Asn)
 dbSNP
11g.22262236G>ACA379922710ANO5c.1288G>A (p.Gly430Arg)
c.1696G>A (p.Gly566Arg)
n.2732G>A
c.1693G>A (p.Gly565Arg)
c.1738G>A (p.Gly580Arg)
n.2073G>A
c.1735G>A (p.Gly579Arg)
c.1660G>A (p.Gly554Arg)
c.1657G>A (p.Gly553Arg)
c.1645G>A (p.Gly549Arg)
 gnomAD v4
11g.22262236G>CCA379922711ANO5c.1288G>C (p.Gly430Arg)
c.1696G>C (p.Gly566Arg)
n.2732G>C
c.1693G>C (p.Gly565Arg)
c.1738G>C (p.Gly580Arg)
n.2073G>C
c.1735G>C (p.Gly579Arg)
c.1660G>C (p.Gly554Arg)
c.1657G>C (p.Gly553Arg)
c.1645G>C (p.Gly549Arg)
11g.22262236G>TCA379922712ANO5c.1288G>T (p.Gly430Trp)
c.1696G>T (p.Gly566Trp)
n.2732G>T
c.1693G>T (p.Gly565Trp)
c.1738G>T (p.Gly580Trp)
n.2073G>T
c.1735G>T (p.Gly579Trp)
c.1660G>T (p.Gly554Trp)
c.1657G>T (p.Gly553Trp)
c.1645G>T (p.Gly549Trp)

Number of alleles fetched