Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.17339430A>CCA366894608AHRc.1605A>C (p.Lys535Asn)
c.1575A>C (p.Lys525Asn)
c.1560A>C (p.Lys520Asn)
n.587A>C
7g.17339430A>GCA454134091AHRc.1605A>G (p.Lys535=)
c.1575A>G (p.Lys525=)
c.1560A>G (p.Lys520=)
n.587A>G
7g.17339430A>TCA366894610AHRc.1605A>T (p.Lys535Asn)
c.1575A>T (p.Lys525Asn)
c.1560A>T (p.Lys520Asn)
n.587A>T
7g.17339431A=CA1691323825AHRc.1606A= (p.Asn536=)
c.1576A= (p.Asn526=)
c.1561A= (p.Asn521=)
n.588A=
7g.17339431A>CCA366894612AHRc.1606A>C (p.Asn536His)
c.1576A>C (p.Asn526His)
c.1561A>C (p.Asn521His)
n.588A>C
 dbSNP gnomAD v3 gnomAD v4
7g.17339431A>GCA366894613AHRc.1606A>G (p.Asn536Asp)
c.1576A>G (p.Asn526Asp)
c.1561A>G (p.Asn521Asp)
n.588A>G
7g.17339431A>TCA366894615AHRc.1606A>T (p.Asn536Tyr)
c.1576A>T (p.Asn526Tyr)
c.1561A>T (p.Asn521Tyr)
n.588A>T
7g.17339432A>CCA366894617AHRc.1607A>C (p.Asn536Thr)
c.1577A>C (p.Asn526Thr)
c.1562A>C (p.Asn521Thr)
n.589A>C
7g.17339432A>GCA366894619AHRc.1607A>G (p.Asn536Ser)
c.1577A>G (p.Asn526Ser)
c.1562A>G (p.Asn521Ser)
n.589A>G
7g.17339432A>TCA366894620AHRc.1607A>T (p.Asn536Ile)
c.1577A>T (p.Asn526Ile)
c.1562A>T (p.Asn521Ile)
n.589A>T
7g.17339433C>ACA366894621AHRc.1608C>A (p.Asn536Lys)
c.1578C>A (p.Asn526Lys)
c.1563C>A (p.Asn521Lys)
n.590C>A
 dbSNP
7g.17339433C>GCA366894622AHRc.1608C>G (p.Asn536Lys)
c.1578C>G (p.Asn526Lys)
c.1563C>G (p.Asn521Lys)
n.590C>G
 gnomAD v4
7g.17339433C>TCA454134092AHRc.1608C>T (p.Asn536=)
c.1578C>T (p.Asn526=)
c.1563C>T (p.Asn521=)
n.590C>T
 gnomAD v4
7g.17339434A=CA1691323826AHRc.1609A= (p.Ser537=)
c.1579A= (p.Ser527=)
c.1564A= (p.Ser522=)
n.591A=
7g.17339434A>CCA366894629AHRc.1609A>C (p.Ser537Arg)
c.1579A>C (p.Ser527Arg)
c.1564A>C (p.Ser522Arg)
n.591A>C
7g.17339434A>GCA4172156AHRc.1609A>G (p.Ser537Gly)
c.1579A>G (p.Ser527Gly)
c.1564A>G (p.Ser522Gly)
n.591A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339434A>TCA366894625AHRc.1609A>T (p.Ser537Cys)
c.1579A>T (p.Ser527Cys)
c.1564A>T (p.Ser522Cys)
n.591A>T
7g.17339435G>ACA366894632AHRc.1610G>A (p.Ser537Asn)
c.1580G>A (p.Ser527Asn)
c.1565G>A (p.Ser522Asn)
n.592G>A
 gnomAD v4
7g.17339435G>CCA366894633AHRc.1610G>C (p.Ser537Thr)
c.1580G>C (p.Ser527Thr)
c.1565G>C (p.Ser522Thr)
n.592G>C
7g.17339435G>TCA366894635AHRc.1610G>T (p.Ser537Ile)
c.1580G>T (p.Ser527Ile)
c.1565G>T (p.Ser522Ile)
n.592G>T
7g.17339436T>ACA366894637AHRc.1611T>A (p.Ser537Arg)
c.1581T>A (p.Ser527Arg)
c.1566T>A (p.Ser522Arg)
n.593T>A
7g.17339436T>CCA454134093AHRc.1611T>C (p.Ser537=)
c.1581T>C (p.Ser527=)
c.1566T>C (p.Ser522=)
n.593T>C
7g.17339436T>GCA366894639AHRc.1611T>G (p.Ser537Arg)
c.1581T>G (p.Ser527Arg)
c.1566T>G (p.Ser522Arg)
n.593T>G
7g.17339437G>ACA366894641AHRc.1612G>A (p.Asp538Asn)
c.1582G>A (p.Asp528Asn)
c.1567G>A (p.Asp523Asn)
n.594G>A
7g.17339437G>CCA366894644AHRc.1612G>C (p.Asp538His)
c.1582G>C (p.Asp528His)
c.1567G>C (p.Asp523His)
n.594G>C
7g.17339437G>TCA366894646AHRc.1612G>T (p.Asp538Tyr)
c.1582G>T (p.Asp528Tyr)
c.1567G>T (p.Asp523Tyr)
n.594G>T
7g.17339438A=CA1691323827AHRc.1613A= (p.Asp538=)
c.1583A= (p.Asp528=)
c.1568A= (p.Asp523=)
n.595A=
7g.17339438A>CCA366894648AHRc.1613A>C (p.Asp538Ala)
c.1583A>C (p.Asp528Ala)
c.1568A>C (p.Asp523Ala)
n.595A>C
7g.17339438A>GCA366894650AHRc.1613A>G (p.Asp538Gly)
c.1583A>G (p.Asp528Gly)
c.1568A>G (p.Asp523Gly)
n.595A>G
 dbSNP
7g.17339438A>TCA366894651AHRc.1613A>T (p.Asp538Val)
c.1583A>T (p.Asp528Val)
c.1568A>T (p.Asp523Val)
n.595A>T
7g.17339439C>ACA366894653AHRc.1614C>A (p.Asp538Glu)
c.1584C>A (p.Asp528Glu)
c.1569C>A (p.Asp523Glu)
n.596C>A
7g.17339439C>GCA366894657AHRc.1614C>G (p.Asp538Glu)
c.1584C>G (p.Asp528Glu)
c.1569C>G (p.Asp523Glu)
n.596C>G
7g.17339439C>TCA454134094AHRc.1614C>T (p.Asp538=)
c.1584C>T (p.Asp528=)
c.1569C>T (p.Asp523=)
n.596C>T
 gnomAD v4
7g.17339440T>ACA366894661AHRc.1615T>A (p.Leu539Met)
c.1585T>A (p.Leu529Met)
c.1570T>A (p.Leu524Met)
n.597T>A
7g.17339440T>CCA454134095AHRc.1615T>C (p.Leu539=)
c.1585T>C (p.Leu529=)
c.1570T>C (p.Leu524=)
n.597T>C
7g.17339440T>GCA366894660AHRc.1615T>G (p.Leu539Val)
c.1585T>G (p.Leu529Val)
c.1570T>G (p.Leu524Val)
n.597T>G
 dbSNP
7g.17339441T>ACA366894664AHRc.1616T>A (p.Leu539Ter)
c.1586T>A (p.Leu529Ter)
c.1571T>A (p.Leu524Ter)
n.598T>A
7g.17339441T>CCA366894666AHRc.1616T>C (p.Leu539Ser)
c.1586T>C (p.Leu529Ser)
c.1571T>C (p.Leu524Ser)
n.598T>C
7g.17339441T>GCA366894665AHRc.1616T>G (p.Leu539Trp)
c.1586T>G (p.Leu529Trp)
c.1571T>G (p.Leu524Trp)
n.598T>G
 gnomAD v4
7g.17339442G>ACA4172158AHRc.1617G>A (p.Leu539=)
c.1587G>A (p.Leu529=)
c.1572G>A (p.Leu524=)
n.599G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339442G>CCA366894669AHRc.1617G>C (p.Leu539Phe)
c.1587G>C (p.Leu529Phe)
c.1572G>C (p.Leu524Phe)
n.599G>C
 gnomAD v4
7g.17339442G=CA1691323828AHRc.1617G= (p.Leu539=)
c.1587G= (p.Leu529=)
c.1572G= (p.Leu524=)
n.599G=
7g.17339442G>TCA4172157AHRc.1617G>T (p.Leu539Phe)
c.1587G>T (p.Leu529Phe)
c.1572G>T (p.Leu524Phe)
n.599G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339443T>ACA366894672AHRc.1618T>A (p.Tyr540Asn)
c.1588T>A (p.Tyr530Asn)
c.1573T>A (p.Tyr525Asn)
n.600T>A
 dbSNP
7g.17339443T>CCA154120647AHRc.1618T>C (p.Tyr540His)
c.1588T>C (p.Tyr530His)
c.1573T>C (p.Tyr525His)
n.600T>C
 dbSNP gnomAD v3 gnomAD v4
7g.17339443T>GCA366894674AHRc.1618T>G (p.Tyr540Asp)
c.1588T>G (p.Tyr530Asp)
c.1573T>G (p.Tyr525Asp)
n.600T>G
7g.17339443T=CA1691323829AHRc.1618T= (p.Tyr540=)
c.1588T= (p.Tyr530=)
c.1573T= (p.Tyr525=)
n.600T=
7g.17339444A=CA1691323830AHRc.1619A= (p.Tyr540=)
c.1589A= (p.Tyr530=)
c.1574A= (p.Tyr525=)
n.601A=
7g.17339444A>CCA366894677AHRc.1619A>C (p.Tyr540Ser)
c.1589A>C (p.Tyr530Ser)
c.1574A>C (p.Tyr525Ser)
n.601A>C
7g.17339444A>GCA366894679AHRc.1619A>G (p.Tyr540Cys)
c.1589A>G (p.Tyr530Cys)
c.1574A>G (p.Tyr525Cys)
n.601A>G
 dbSNP gnomAD v2
7g.17339444A>TCA366894681AHRc.1619A>T (p.Tyr540Phe)
c.1589A>T (p.Tyr530Phe)
c.1574A>T (p.Tyr525Phe)
n.601A>T
7g.17339445C>ACA366894684AHRc.1620C>A (p.Tyr540Ter)
c.1590C>A (p.Tyr530Ter)
c.1575C>A (p.Tyr525Ter)
n.602C>A
7g.17339445C>GCA366894685AHRc.1620C>G (p.Tyr540Ter)
c.1590C>G (p.Tyr530Ter)
c.1575C>G (p.Tyr525Ter)
n.602C>G
7g.17339445C>TCA454134096AHRc.1620C>T (p.Tyr540=)
c.1590C>T (p.Tyr530=)
c.1575C>T (p.Tyr525=)
n.602C>T
 gnomAD v4
7g.17339446A>CCA366894691AHRc.1621A>C (p.Ser541Arg)
c.1591A>C (p.Ser531Arg)
c.1576A>C (p.Ser526Arg)
n.603A>C
7g.17339446A>GCA366894689AHRc.1621A>G (p.Ser541Gly)
c.1591A>G (p.Ser531Gly)
c.1576A>G (p.Ser526Gly)
n.603A>G
7g.17339446A>TCA366894687AHRc.1621A>T (p.Ser541Cys)
c.1591A>T (p.Ser531Cys)
c.1576A>T (p.Ser526Cys)
n.603A>T
7g.17339447G>ACA366894693AHRc.1622G>A (p.Ser541Asn)
c.1592G>A (p.Ser531Asn)
c.1577G>A (p.Ser526Asn)
n.604G>A
7g.17339447G>CCA366894694AHRc.1622G>C (p.Ser541Thr)
c.1592G>C (p.Ser531Thr)
c.1577G>C (p.Ser526Thr)
n.604G>C
7g.17339447G>TCA366894696AHRc.1622G>T (p.Ser541Ile)
c.1592G>T (p.Ser531Ile)
c.1577G>T (p.Ser526Ile)
n.604G>T
 gnomAD v4
7g.17339448C>ACA366894697AHRc.1623C>A (p.Ser541Arg)
c.1593C>A (p.Ser531Arg)
c.1578C>A (p.Ser526Arg)
n.605C>A
7g.17339448C=CA1691323831AHRc.1623C= (p.Ser541=)
c.1593C= (p.Ser531=)
c.1578C= (p.Ser526=)
n.605C=
7g.17339448C>GCA366894698AHRc.1623C>G (p.Ser541Arg)
c.1593C>G (p.Ser531Arg)
c.1578C>G (p.Ser526Arg)
n.605C>G
7g.17339448C>TCA154120653AHRc.1623C>T (p.Ser541=)
c.1593C>T (p.Ser531=)
c.1578C>T (p.Ser526=)
n.605C>T
 dbSNP
7g.17339449A=CA1691323832AHRc.1624A= (p.Ile542=)
c.1594A= (p.Ile532=)
c.1579A= (p.Ile527=)
n.606A=
7g.17339449A>CCA366894699AHRc.1624A>C (p.Ile542Leu)
c.1594A>C (p.Ile532Leu)
c.1579A>C (p.Ile527Leu)
n.606A>C
 dbSNP gnomAD v4
7g.17339449A>GCA366894702AHRc.1624A>G (p.Ile542Val)
c.1594A>G (p.Ile532Val)
c.1579A>G (p.Ile527Val)
n.606A>G
 dbSNP gnomAD v2 gnomAD v4
7g.17339449A>TCA366894704AHRc.1624A>T (p.Ile542Leu)
c.1594A>T (p.Ile532Leu)
c.1579A>T (p.Ile527Leu)
n.606A>T
7g.17339450delCA2532164063AHRc.1625del (p.Ile542LysfsTer2)
c.1595del (p.Ile532LysfsTer2)
c.1580del (p.Ile527LysfsTer2)
n.607del
7g.17339450T>ACA366894706AHRc.1625T>A (p.Ile542Lys)
c.1595T>A (p.Ile532Lys)
c.1580T>A (p.Ile527Lys)
n.607T>A
 gnomAD v4
7g.17339450T>CCA366894708AHRc.1625T>C (p.Ile542Thr)
c.1595T>C (p.Ile532Thr)
c.1580T>C (p.Ile527Thr)
n.607T>C
 ClinVar dbSNP gnomAD v4
7g.17339450T>GCA366894709AHRc.1625T>G (p.Ile542Arg)
c.1595T>G (p.Ile532Arg)
c.1580T>G (p.Ile527Arg)
n.607T>G
7g.17339450T=CA1691323833AHRc.1625T= (p.Ile542=)
c.1595T= (p.Ile532=)
c.1580T= (p.Ile527=)
n.607T=
7g.17339451A=CA1691323834AHRc.1626A= (p.Ile542=)
c.1596A= (p.Ile532=)
c.1581A= (p.Ile527=)
n.608A=
7g.17339451A>CCA4172159AHRc.1626A>C (p.Ile542=)
c.1596A>C (p.Ile532=)
c.1581A>C (p.Ile527=)
n.608A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339451A>GCA366894712AHRc.1626A>G (p.Ile542Met)
c.1596A>G (p.Ile532Met)
c.1581A>G (p.Ile527Met)
n.608A>G
 dbSNP
7g.17339451A>TCA454134097AHRc.1626A>T (p.Ile542=)
c.1596A>T (p.Ile532=)
c.1581A>T (p.Ile527=)
n.608A>T
7g.17339452A>CCA366894718AHRc.1627A>C (p.Met543Leu)
c.1597A>C (p.Met533Leu)
c.1582A>C (p.Met528Leu)
n.609A>C
7g.17339452A>GCA366894714AHRc.1627A>G (p.Met543Val)
c.1597A>G (p.Met533Val)
c.1582A>G (p.Met528Val)
n.609A>G
7g.17339452A>TCA366894716AHRc.1627A>T (p.Met543Leu)
c.1597A>T (p.Met533Leu)
c.1582A>T (p.Met528Leu)
n.609A>T
 gnomAD v4
7g.17339453T>ACA366894720AHRc.1628T>A (p.Met543Lys)
c.1598T>A (p.Met533Lys)
c.1583T>A (p.Met528Lys)
n.610T>A
7g.17339453T>CCA366894725AHRc.1628T>C (p.Met543Thr)
c.1598T>C (p.Met533Thr)
c.1583T>C (p.Met528Thr)
n.610T>C
7g.17339453T>GCA366894722AHRc.1628T>G (p.Met543Arg)
c.1598T>G (p.Met533Arg)
c.1583T>G (p.Met528Arg)
n.610T>G
 ClinVar dbSNP
7g.17339453T=CA1691323835AHRc.1628T= (p.Met543=)
c.1598T= (p.Met533=)
c.1583T= (p.Met528=)
n.610T=
7g.17339454G>ACA366894728AHRc.1629G>A (p.Met543Ile)
c.1599G>A (p.Met533Ile)
c.1584G>A (p.Met528Ile)
n.611G>A
 COSMIC
7g.17339454G>CCA366894731AHRc.1629G>C (p.Met543Ile)
c.1599G>C (p.Met533Ile)
c.1584G>C (p.Met528Ile)
n.611G>C
7g.17339454G>TCA366894729AHRc.1629G>T (p.Met543Ile)
c.1599G>T (p.Met533Ile)
c.1584G>T (p.Met528Ile)
n.611G>T
7g.17339455A=CA1691323836AHRc.1630A= (p.Lys544=)
c.1600A= (p.Lys534=)
c.1585A= (p.Lys529=)
n.612A=
7g.17339455A>CCA366894733AHRc.1630A>C (p.Lys544Gln)
c.1600A>C (p.Lys534Gln)
c.1585A>C (p.Lys529Gln)
n.612A>C
 dbSNP gnomAD v2 gnomAD v4
7g.17339455A>GCA366894735AHRc.1630A>G (p.Lys544Glu)
c.1600A>G (p.Lys534Glu)
c.1585A>G (p.Lys529Glu)
n.612A>G
7g.17339455A>TCA366894737AHRc.1630A>T (p.Lys544Ter)
c.1600A>T (p.Lys534Ter)
c.1585A>T (p.Lys529Ter)
n.612A>T
 gnomAD v4
7g.17339456A>CCA366894741AHRc.1631A>C (p.Lys544Thr)
c.1601A>C (p.Lys534Thr)
c.1586A>C (p.Lys529Thr)
n.613A>C
7g.17339456A>GCA366894743AHRc.1631A>G (p.Lys544Arg)
c.1601A>G (p.Lys534Arg)
c.1586A>G (p.Lys529Arg)
n.613A>G
7g.17339456A>TCA366894745AHRc.1631A>T (p.Lys544Ile)
c.1601A>T (p.Lys534Ile)
c.1586A>T (p.Lys529Ile)
n.613A>T
7g.17339457A>CCA366894746AHRc.1632A>C (p.Lys544Asn)
c.1602A>C (p.Lys534Asn)
c.1587A>C (p.Lys529Asn)
n.614A>C
7g.17339457A>GCA454134098AHRc.1632A>G (p.Lys544=)
c.1602A>G (p.Lys534=)
c.1587A>G (p.Lys529=)
n.614A>G
 gnomAD v4
7g.17339457A>TCA366894749AHRc.1632A>T (p.Lys544Asn)
c.1602A>T (p.Lys534Asn)
c.1587A>T (p.Lys529Asn)
n.614A>T
7g.17339458A>CCA366894752AHRc.1633A>C (p.Asn545His)
c.1603A>C (p.Asn535His)
c.1588A>C (p.Asn530His)
n.615A>C
7g.17339458A>GCA366894756AHRc.1633A>G (p.Asn545Asp)
c.1603A>G (p.Asn535Asp)
c.1588A>G (p.Asn530Asp)
n.615A>G
7g.17339458A>TCA366894758AHRc.1633A>T (p.Asn545Tyr)
c.1603A>T (p.Asn535Tyr)
c.1588A>T (p.Asn530Tyr)
n.615A>T
7g.17339459A>CCA366894763AHRc.1634A>C (p.Asn545Thr)
c.1604A>C (p.Asn535Thr)
c.1589A>C (p.Asn530Thr)
n.616A>C
7g.17339459A>GCA366894760AHRc.1634A>G (p.Asn545Ser)
c.1604A>G (p.Asn535Ser)
c.1589A>G (p.Asn530Ser)
n.616A>G
7g.17339459A>TCA366894761AHRc.1634A>T (p.Asn545Ile)
c.1604A>T (p.Asn535Ile)
c.1589A>T (p.Asn530Ile)
n.616A>T
7g.17339460C>ACA366894766AHRc.1635C>A (p.Asn545Lys)
c.1605C>A (p.Asn535Lys)
c.1590C>A (p.Asn530Lys)
n.617C>A
7g.17339460C=CA1691323837AHRc.1635C= (p.Asn545=)
c.1605C= (p.Asn535=)
c.1590C= (p.Asn530=)
n.617C=
7g.17339460C>GCA366894767AHRc.1635C>G (p.Asn545Lys)
c.1605C>G (p.Asn535Lys)
c.1590C>G (p.Asn530Lys)
n.617C>G
7g.17339460C>TCA454134099AHRc.1635C>T (p.Asn545=)
c.1605C>T (p.Asn535=)
c.1590C>T (p.Asn530=)
n.617C>T
 dbSNP
7g.17339461C>ACA366894768AHRc.1636C>A (p.Leu546Ile)
c.1606C>A (p.Leu536Ile)
c.1591C>A (p.Leu531Ile)
n.618C>A
7g.17339461C=CA1691323838AHRc.1636C= (p.Leu546=)
c.1606C= (p.Leu536=)
c.1591C= (p.Leu531=)
n.618C=
7g.17339461C>GCA366894770AHRc.1636C>G (p.Leu546Val)
c.1606C>G (p.Leu536Val)
c.1591C>G (p.Leu531Val)
n.618C>G
 dbSNP gnomAD v2
7g.17339461C>TCA454134100AHRc.1636C>T (p.Leu546=)
c.1606C>T (p.Leu536=)
c.1591C>T (p.Leu531=)
n.618C>T
7g.17339462T>ACA366894771AHRc.1637T>A (p.Leu546Gln)
c.1607T>A (p.Leu536Gln)
c.1592T>A (p.Leu531Gln)
n.619T>A
7g.17339462T>CCA366894773AHRc.1637T>C (p.Leu546Pro)
c.1607T>C (p.Leu536Pro)
c.1592T>C (p.Leu531Pro)
n.619T>C
7g.17339462T>GCA366894775AHRc.1637T>G (p.Leu546Arg)
c.1607T>G (p.Leu536Arg)
c.1592T>G (p.Leu531Arg)
n.619T>G
7g.17339463A>CCA454134103AHRc.1638A>C (p.Leu546=)
c.1608A>C (p.Leu536=)
c.1593A>C (p.Leu531=)
n.620A>C
7g.17339463A>GCA454134102AHRc.1638A>G (p.Leu546=)
c.1608A>G (p.Leu536=)
c.1593A>G (p.Leu531=)
n.620A>G
7g.17339463A>TCA454134101AHRc.1638A>T (p.Leu546=)
c.1608A>T (p.Leu536=)
c.1593A>T (p.Leu531=)
n.620A>T
7g.17339464G>ACA366894781AHRc.1639G>A (p.Gly547Ser)
c.1609G>A (p.Gly537Ser)
c.1594G>A (p.Gly532Ser)
n.621G>A
 gnomAD v3 gnomAD v4
7g.17339464G>CCA366894782AHRc.1639G>C (p.Gly547Arg)
c.1609G>C (p.Gly537Arg)
c.1594G>C (p.Gly532Arg)
n.621G>C
7g.17339464G>TCA366894784AHRc.1639G>T (p.Gly547Cys)
c.1609G>T (p.Gly537Cys)
c.1594G>T (p.Gly532Cys)
n.621G>T
 gnomAD v4
7g.17339465G>ACA366894786AHRc.1640G>A (p.Gly547Asp)
c.1610G>A (p.Gly537Asp)
c.1595G>A (p.Gly532Asp)
n.622G>A
7g.17339465G>CCA366894788AHRc.1640G>C (p.Gly547Ala)
c.1610G>C (p.Gly537Ala)
c.1595G>C (p.Gly532Ala)
n.622G>C
7g.17339465G>TCA366894785AHRc.1640G>T (p.Gly547Val)
c.1610G>T (p.Gly537Val)
c.1595G>T (p.Gly532Val)
n.622G>T
7g.17339466C>ACA454134104AHRc.1641C>A (p.Gly547=)
c.1611C>A (p.Gly537=)
c.1596C>A (p.Gly532=)
n.623C>A
7g.17339466C>GCA454134106AHRc.1641C>G (p.Gly547=)
c.1611C>G (p.Gly537=)
c.1596C>G (p.Gly532=)
n.623C>G
7g.17339466C>TCA454134105AHRc.1641C>T (p.Gly547=)
c.1611C>T (p.Gly537=)
c.1596C>T (p.Gly532=)
n.623C>T
7g.17339467A=CA1691323839AHRc.1642A= (p.Ile548=)
c.1612A= (p.Ile538=)
c.1597A= (p.Ile533=)
n.624A=
7g.17339467A>CCA366894790AHRc.1642A>C (p.Ile548Leu)
c.1612A>C (p.Ile538Leu)
c.1597A>C (p.Ile533Leu)
n.624A>C
7g.17339467A>GCA366894792AHRc.1642A>G (p.Ile548Val)
c.1612A>G (p.Ile538Val)
c.1597A>G (p.Ile533Val)
n.624A>G
 dbSNP gnomAD v2 gnomAD v4
7g.17339467A>TCA366894794AHRc.1642A>T (p.Ile548Phe)
c.1612A>T (p.Ile538Phe)
c.1597A>T (p.Ile533Phe)
n.624A>T
7g.17339468T>ACA366894797AHRc.1643T>A (p.Ile548Asn)
c.1613T>A (p.Ile538Asn)
c.1598T>A (p.Ile533Asn)
n.625T>A
7g.17339468T>CCA366894798AHRc.1643T>C (p.Ile548Thr)
c.1613T>C (p.Ile538Thr)
c.1598T>C (p.Ile533Thr)
n.625T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.17339468T>GCA366894800AHRc.1643T>G (p.Ile548Ser)
c.1613T>G (p.Ile538Ser)
c.1598T>G (p.Ile533Ser)
n.625T>G
7g.17339468T=CA1691323840AHRc.1643T= (p.Ile548=)
c.1613T= (p.Ile538=)
c.1598T= (p.Ile533=)
n.625T=
7g.17339469T>ACA454134107AHRc.1644T>A (p.Ile548=)
c.1614T>A (p.Ile538=)
c.1599T>A (p.Ile533=)
n.626T>A
7g.17339469T>CCA454134108AHRc.1644T>C (p.Ile548=)
c.1614T>C (p.Ile538=)
c.1599T>C (p.Ile533=)
n.626T>C
 gnomAD v4
7g.17339469T>GCA366894802AHRc.1644T>G (p.Ile548Met)
c.1614T>G (p.Ile538Met)
c.1599T>G (p.Ile533Met)
n.626T>G
7g.17339470G>ACA366894805AHRc.1645G>A (p.Asp549Asn)
c.1615G>A (p.Asp539Asn)
c.1600G>A (p.Asp534Asn)
n.627G>A
7g.17339470G>CCA366894807AHRc.1645G>C (p.Asp549His)
c.1615G>C (p.Asp539His)
c.1600G>C (p.Asp534His)
n.627G>C
 COSMIC
7g.17339470G=CA1691323841AHRc.1645G= (p.Asp549=)
c.1615G= (p.Asp539=)
c.1600G= (p.Asp534=)
n.627G=
7g.17339470G>TCA366894809AHRc.1645G>T (p.Asp549Tyr)
c.1615G>T (p.Asp539Tyr)
c.1600G>T (p.Asp534Tyr)
n.627G>T
 dbSNP gnomAD v4
7g.17339471A=CA1691323842AHRc.1646A= (p.Asp549=)
c.1616A= (p.Asp539=)
c.1601A= (p.Asp534=)
n.628A=
7g.17339471A>CCA366894812AHRc.1646A>C (p.Asp549Ala)
c.1616A>C (p.Asp539Ala)
c.1601A>C (p.Asp534Ala)
n.628A>C
7g.17339471A>GCA366894814AHRc.1646A>G (p.Asp549Gly)
c.1616A>G (p.Asp539Gly)
c.1601A>G (p.Asp534Gly)
n.628A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339471A>TCA366894815AHRc.1646A>T (p.Asp549Val)
c.1616A>T (p.Asp539Val)
c.1601A>T (p.Asp534Val)
n.628A>T
7g.17339471_17339474delCA645548962AHRc.1646_1649del (p.Asp549ValfsTer28)
c.1616_1619del (p.Asp539ValfsTer28)
c.1601_1604del (p.Asp534ValfsTer28)
n.628_631del
 COSMIC
7g.17339471_17339472insGAGAGTCCTTGCTTAGAGTGGATGTGGTAGCAGAGCA2539910238AHRc.1646_1647insGAGAGTCCTTGCTTAGAGTGGATGTGGTAGCAGAG (p.Asp549GlufsTer6)
c.1616_1617insGAGAGTCCTTGCTTAGAGTGGATGTGGTAGCAGAG (p.Asp539GlufsTer6)
c.1601_1602insGAGAGTCCTTGCTTAGAGTGGATGTGGTAGCAGAG (p.Asp534GlufsTer6)
n.628_629insGAGAGTCCTTGCTTAGAGTGGATGTGGTAGCAGAG
7g.17339472T>ACA366894817AHRc.1647T>A (p.Asp549Glu)
c.1617T>A (p.Asp539Glu)
c.1602T>A (p.Asp534Glu)
n.629T>A
7g.17339472T>CCA454134109AHRc.1647T>C (p.Asp549=)
c.1617T>C (p.Asp539=)
c.1602T>C (p.Asp534=)
n.629T>C
7g.17339472T>GCA366894816AHRc.1647T>G (p.Asp549Glu)
c.1617T>G (p.Asp539Glu)
c.1602T>G (p.Asp534Glu)
n.629T>G
7g.17339473T>ACA366894819AHRc.1648T>A (p.Phe550Ile)
c.1618T>A (p.Phe540Ile)
c.1603T>A (p.Phe535Ile)
n.630T>A
7g.17339473T>CCA366894820AHRc.1648T>C (p.Phe550Leu)
c.1618T>C (p.Phe540Leu)
c.1603T>C (p.Phe535Leu)
n.630T>C
7g.17339473T>GCA366894821AHRc.1648T>G (p.Phe550Val)
c.1618T>G (p.Phe540Val)
c.1603T>G (p.Phe535Val)
n.630T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339473T=CA1691323843AHRc.1648T= (p.Phe550=)
c.1618T= (p.Phe540=)
c.1603T= (p.Phe535=)
n.630T=
7g.17339474T>ACA366894824AHRc.1649T>A (p.Phe550Tyr)
c.1619T>A (p.Phe540Tyr)
c.1604T>A (p.Phe535Tyr)
n.631T>A
7g.17339474T>CCA4172160AHRc.1649T>C (p.Phe550Ser)
c.1619T>C (p.Phe540Ser)
c.1604T>C (p.Phe535Ser)
n.631T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339474T>GCA366894827AHRc.1649T>G (p.Phe550Cys)
c.1619T>G (p.Phe540Cys)
c.1604T>G (p.Phe535Cys)
n.631T>G
 gnomAD v4
7g.17339474T=CA1691323844AHRc.1649T= (p.Phe550=)
c.1619T= (p.Phe540=)
c.1604T= (p.Phe535=)
n.631T=
7g.17339475T>ACA366894830AHRc.1650T>A (p.Phe550Leu)
c.1620T>A (p.Phe540Leu)
c.1605T>A (p.Phe535Leu)
n.632T>A
7g.17339475T>CCA454134110AHRc.1650T>C (p.Phe550=)
c.1620T>C (p.Phe540=)
c.1605T>C (p.Phe535=)
n.632T>C
7g.17339475T>GCA366894831AHRc.1650T>G (p.Phe550Leu)
c.1620T>G (p.Phe540Leu)
c.1605T>G (p.Phe535Leu)
n.632T>G
7g.17339476G>ACA366894833AHRc.1651G>A (p.Glu551Lys)
c.1621G>A (p.Glu541Lys)
c.1606G>A (p.Glu536Lys)
n.633G>A
7g.17339476G>CCA366894835AHRc.1651G>C (p.Glu551Gln)
c.1621G>C (p.Glu541Gln)
c.1606G>C (p.Glu536Gln)
n.633G>C
7g.17339476G>TCA366894837AHRc.1651G>T (p.Glu551Ter)
c.1621G>T (p.Glu541Ter)
c.1606G>T (p.Glu536Ter)
n.633G>T
7g.17339477A>CCA366894839AHRc.1652A>C (p.Glu551Ala)
c.1622A>C (p.Glu541Ala)
c.1607A>C (p.Glu536Ala)
n.634A>C
7g.17339477A>GCA366894841AHRc.1652A>G (p.Glu551Gly)
c.1622A>G (p.Glu541Gly)
c.1607A>G (p.Glu536Gly)
n.634A>G
7g.17339477A>TCA366894843AHRc.1652A>T (p.Glu551Val)
c.1622A>T (p.Glu541Val)
c.1607A>T (p.Glu536Val)
n.634A>T
7g.17339478A=CA1691323845AHRc.1653A= (p.Glu551=)
c.1623A= (p.Glu541=)
c.1608A= (p.Glu536=)
n.635A=
7g.17339478A>CCA366894847AHRc.1653A>C (p.Glu551Asp)
c.1623A>C (p.Glu541Asp)
c.1608A>C (p.Glu536Asp)
n.635A>C
7g.17339478A>GCA454134111AHRc.1653A>G (p.Glu551=)
c.1623A>G (p.Glu541=)
c.1608A>G (p.Glu536=)
n.635A>G
7g.17339478A>TCA366894845AHRc.1653A>T (p.Glu551Asp)
c.1623A>T (p.Glu541Asp)
c.1608A>T (p.Glu536Asp)
n.635A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.17339479G>ACA366894849AHRc.1654G>A (p.Asp552Asn)
c.1624G>A (p.Asp542Asn)
c.1609G>A (p.Asp537Asn)
n.636G>A
7g.17339479G>CCA366894854AHRc.1654G>C (p.Asp552His)
c.1624G>C (p.Asp542His)
c.1609G>C (p.Asp537His)
n.636G>C
7g.17339479G>TCA366894851AHRc.1654G>T (p.Asp552Tyr)
c.1624G>T (p.Asp542Tyr)
c.1609G>T (p.Asp537Tyr)
n.636G>T
7g.17339480A>CCA366894856AHRc.1655A>C (p.Asp552Ala)
c.1625A>C (p.Asp542Ala)
c.1610A>C (p.Asp537Ala)
n.637A>C
7g.17339480A>GCA366894858AHRc.1655A>G (p.Asp552Gly)
c.1625A>G (p.Asp542Gly)
c.1610A>G (p.Asp537Gly)
n.637A>G
7g.17339480A>TCA366894859AHRc.1655A>T (p.Asp552Val)
c.1625A>T (p.Asp542Val)
c.1610A>T (p.Asp537Val)
n.637A>T
7g.17339481C>ACA366894861AHRc.1656C>A (p.Asp552Glu)
c.1626C>A (p.Asp542Glu)
c.1611C>A (p.Asp537Glu)
n.638C>A
7g.17339481C=CA1691323846AHRc.1656C= (p.Asp552=)
c.1626C= (p.Asp542=)
c.1611C= (p.Asp537=)
n.638C=
7g.17339481C>GCA366894863AHRc.1656C>G (p.Asp552Glu)
c.1626C>G (p.Asp542Glu)
c.1611C>G (p.Asp537Glu)
n.638C>G
7g.17339481C>TCA4172161AHRc.1656C>T (p.Asp552=)
c.1626C>T (p.Asp542=)
c.1611C>T (p.Asp537=)
n.638C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339482A=CA1691323847AHRc.1657A= (p.Ile553=)
c.1627A= (p.Ile543=)
c.1612A= (p.Ile538=)
n.639A=
7g.17339482A>CCA366894867AHRc.1657A>C (p.Ile553Leu)
c.1627A>C (p.Ile543Leu)
c.1612A>C (p.Ile538Leu)
n.639A>C
7g.17339482A>GCA366894868AHRc.1657A>G (p.Ile553Val)
c.1627A>G (p.Ile543Val)
c.1612A>G (p.Ile538Val)
n.639A>G
 dbSNP gnomAD v3 gnomAD v4
7g.17339482A>TCA366894870AHRc.1657A>T (p.Ile553Phe)
c.1627A>T (p.Ile543Phe)
c.1612A>T (p.Ile538Phe)
n.639A>T
 ClinVar dbSNP gnomAD v4
7g.17339483T>ACA154120700AHRc.1658T>A (p.Ile553Asn)
c.1628T>A (p.Ile543Asn)
c.1613T>A (p.Ile538Asn)
n.640T>A
 dbSNP gnomAD v3 gnomAD v4
7g.17339483T>CCA366894873AHRc.1658T>C (p.Ile553Thr)
c.1628T>C (p.Ile543Thr)
c.1613T>C (p.Ile538Thr)
n.640T>C
7g.17339483T>GCA366894875AHRc.1658T>G (p.Ile553Ser)
c.1628T>G (p.Ile543Ser)
c.1613T>G (p.Ile538Ser)
n.640T>G
 gnomAD v4
7g.17339483T=CA1691323848AHRc.1658T= (p.Ile553=)
c.1628T= (p.Ile543=)
c.1613T= (p.Ile538=)
n.640T=
7g.17339484C>ACA4172162AHRc.1659C>A (p.Ile553=)
c.1629C>A (p.Ile543=)
c.1614C>A (p.Ile538=)
n.641C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339484C=CA1691323849AHRc.1659C= (p.Ile553=)
c.1629C= (p.Ile543=)
c.1614C= (p.Ile538=)
n.641C=
7g.17339484C>GCA366894878AHRc.1659C>G (p.Ile553Met)
c.1629C>G (p.Ile543Met)
c.1614C>G (p.Ile538Met)
n.641C>G
7g.17339484C>TCA454134112AHRc.1659C>T (p.Ile553=)
c.1629C>T (p.Ile543=)
c.1614C>T (p.Ile538=)
n.641C>T
7g.17339485A>CCA454134113AHRc.1660A>C (p.Arg554=)
c.1630A>C (p.Arg544=)
c.1615A>C (p.Arg539=)
n.642A>C
7g.17339485A>GCA366894879AHRc.1660A>G (p.Arg554Gly)
c.1630A>G (p.Arg544Gly)
c.1615A>G (p.Arg539Gly)
n.642A>G
 gnomAD v4
7g.17339485A>TCA366894881AHRc.1660A>T (p.Arg554Ter)
c.1630A>T (p.Arg544Ter)
c.1615A>T (p.Arg539Ter)
n.642A>T
7g.17339486G>ACA4172163AHRc.1661G>A (p.Arg554Lys)
c.1631G>A (p.Arg544Lys)
c.1616G>A (p.Arg539Lys)
n.643G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339486G>CCA366894884AHRc.1661G>C (p.Arg554Thr)
c.1631G>C (p.Arg544Thr)
c.1616G>C (p.Arg539Thr)
n.643G>C
7g.17339486G=CA1691323850AHRc.1661G= (p.Arg554=)
c.1631G= (p.Arg544=)
c.1616G= (p.Arg539=)
n.643G=
7g.17339486G>TCA366894885AHRc.1661G>T (p.Arg554Ile)
c.1631G>T (p.Arg544Ile)
c.1616G>T (p.Arg539Ile)
n.643G>T
 gnomAD v4
7g.17339487A=CA1691323851AHRc.1662A= (p.Arg554=)
c.1632A= (p.Arg544=)
c.1617A= (p.Arg539=)
n.644A=
7g.17339487A>CCA4172164AHRc.1662A>C (p.Arg554Ser)
c.1632A>C (p.Arg544Ser)
c.1617A>C (p.Arg539Ser)
n.644A>C
 dbSNP ExAC gnomAD v2
7g.17339487A>GCA4172165AHRc.1662A>G (p.Arg554=)
c.1632A>G (p.Arg544=)
c.1617A>G (p.Arg539=)
n.644A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339487A>TCA366894889AHRc.1662A>T (p.Arg554Ser)
c.1632A>T (p.Arg544Ser)
c.1617A>T (p.Arg539Ser)
n.644A>T
 dbSNP
7g.17339488C>ACA366894891AHRc.1663C>A (p.His555Asn)
c.1633C>A (p.His545Asn)
c.1618C>A (p.His540Asn)
n.645C>A
7g.17339488C=CA1691323852AHRc.1663C= (p.His555=)
c.1633C= (p.His545=)
c.1618C= (p.His540=)
n.645C=
7g.17339488C>GCA366894893AHRc.1663C>G (p.His555Asp)
c.1633C>G (p.His545Asp)
c.1618C>G (p.His540Asp)
n.645C>G
7g.17339488C>TCA4172166AHRc.1663C>T (p.His555Tyr)
c.1633C>T (p.His545Tyr)
c.1618C>T (p.His540Tyr)
n.645C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339489A>CCA366894896AHRc.1664A>C (p.His555Pro)
c.1634A>C (p.His545Pro)
c.1619A>C (p.His540Pro)
n.646A>C
 gnomAD v4
7g.17339489A>GCA366894898AHRc.1664A>G (p.His555Arg)
c.1634A>G (p.His545Arg)
c.1619A>G (p.His540Arg)
n.646A>G
 gnomAD v4
7g.17339489A>TCA366894900AHRc.1664A>T (p.His555Leu)
c.1634A>T (p.His545Leu)
c.1619A>T (p.His540Leu)
n.646A>T
7g.17339490C>ACA366894901AHRc.1665C>A (p.His555Gln)
c.1635C>A (p.His545Gln)
c.1620C>A (p.His540Gln)
n.647C>A
7g.17339490C=CA1691323853AHRc.1665C= (p.His555=)
c.1635C= (p.His545=)
c.1620C= (p.His540=)
n.647C=
7g.17339490C>GCA366894903AHRc.1665C>G (p.His555Gln)
c.1635C>G (p.His545Gln)
c.1620C>G (p.His540Gln)
n.647C>G
 dbSNP gnomAD v2 gnomAD v4
7g.17339490C>TCA454134114AHRc.1665C>T (p.His555=)
c.1635C>T (p.His545=)
c.1620C>T (p.His540=)
n.647C>T
 gnomAD v4
7g.17339491A=CA1691323854AHRc.1666A= (p.Met556=)
c.1636A= (p.Met546=)
c.1621A= (p.Met541=)
n.648A=
7g.17339491A>CCA154120752AHRc.1666A>C (p.Met556Leu)
c.1636A>C (p.Met546Leu)
c.1621A>C (p.Met541Leu)
n.648A>C
 dbSNP
7g.17339491A>GCA366894906AHRc.1666A>G (p.Met556Val)
c.1636A>G (p.Met546Val)
c.1621A>G (p.Met541Val)
n.648A>G
 dbSNP gnomAD v4
7g.17339491A>TCA366894908AHRc.1666A>T (p.Met556Leu)
c.1636A>T (p.Met546Leu)
c.1621A>T (p.Met541Leu)
n.648A>T
7g.17339492T>ACA366894910AHRc.1667T>A (p.Met556Lys)
c.1637T>A (p.Met546Lys)
c.1622T>A (p.Met541Lys)
n.649T>A
 dbSNP gnomAD v3 gnomAD v4
7g.17339492T>CCA366894912AHRc.1667T>C (p.Met556Thr)
c.1637T>C (p.Met546Thr)
c.1622T>C (p.Met541Thr)
n.649T>C
 gnomAD v4
7g.17339492T>GCA366894913AHRc.1667T>G (p.Met556Arg)
c.1637T>G (p.Met546Arg)
c.1622T>G (p.Met541Arg)
n.649T>G
7g.17339492T=CA1691323855AHRc.1667T= (p.Met556=)
c.1637T= (p.Met546=)
c.1622T= (p.Met541=)
n.649T=
7g.17339493G>ACA366894914AHRc.1668G>A (p.Met556Ile)
c.1638G>A (p.Met546Ile)
c.1623G>A (p.Met541Ile)
n.650G>A
7g.17339493G>CCA366894915AHRc.1668G>C (p.Met556Ile)
c.1638G>C (p.Met546Ile)
c.1623G>C (p.Met541Ile)
n.650G>C
7g.17339493G>TCA366894916AHRc.1668G>T (p.Met556Ile)
c.1638G>T (p.Met546Ile)
c.1623G>T (p.Met541Ile)
n.650G>T
 gnomAD v4 COSMIC
7g.17339494C>ACA366894917AHRc.1669C>A (p.Gln557Lys)
c.1639C>A (p.Gln547Lys)
c.1624C>A (p.Gln542Lys)
n.651C>A
7g.17339494C>GCA366894918AHRc.1669C>G (p.Gln557Glu)
c.1639C>G (p.Gln547Glu)
c.1624C>G (p.Gln542Glu)
n.651C>G
7g.17339494C>TCA366894919AHRc.1669C>T (p.Gln557Ter)
c.1639C>T (p.Gln547Ter)
c.1624C>T (p.Gln542Ter)
n.651C>T
7g.17339495A>CCA366894921AHRc.1670A>C (p.Gln557Pro)
c.1640A>C (p.Gln547Pro)
c.1625A>C (p.Gln542Pro)
n.652A>C
7g.17339495A>GCA366894922AHRc.1670A>G (p.Gln557Arg)
c.1640A>G (p.Gln547Arg)
c.1625A>G (p.Gln542Arg)
n.652A>G
7g.17339495A>TCA366894920AHRc.1670A>T (p.Gln557Leu)
c.1640A>T (p.Gln547Leu)
c.1625A>T (p.Gln542Leu)
n.652A>T
7g.17339496G>ACA454134115AHRc.1671G>A (p.Gln557=)
c.1641G>A (p.Gln547=)
c.1626G>A (p.Gln542=)
n.653G>A
7g.17339496G>CCA366894923AHRc.1671G>C (p.Gln557His)
c.1641G>C (p.Gln547His)
c.1626G>C (p.Gln542His)
n.653G>C
 gnomAD v4
7g.17339496G>TCA366894924AHRc.1671G>T (p.Gln557His)
c.1641G>T (p.Gln547His)
c.1626G>T (p.Gln542His)
n.653G>T
7g.17339497A>CCA366894925AHRc.1672A>C (p.Asn558His)
c.1642A>C (p.Asn548His)
c.1627A>C (p.Asn543His)
n.654A>C
7g.17339497A>GCA366894926AHRc.1672A>G (p.Asn558Asp)
c.1642A>G (p.Asn548Asp)
c.1627A>G (p.Asn543Asp)
n.654A>G
7g.17339497A>TCA366894927AHRc.1672A>T (p.Asn558Tyr)
c.1642A>T (p.Asn548Tyr)
c.1627A>T (p.Asn543Tyr)
n.654A>T
7g.17339498A=CA1691323856AHRc.1673A= (p.Asn558=)
c.1643A= (p.Asn548=)
c.1628A= (p.Asn543=)
n.655A=
7g.17339498A>CCA154120753AHRc.1673A>C (p.Asn558Thr)
c.1643A>C (p.Asn548Thr)
c.1628A>C (p.Asn543Thr)
n.655A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339498A>GCA366894928AHRc.1673A>G (p.Asn558Ser)
c.1643A>G (p.Asn548Ser)
c.1628A>G (p.Asn543Ser)
n.655A>G
7g.17339498A>TCA366894929AHRc.1673A>T (p.Asn558Ile)
c.1643A>T (p.Asn548Ile)
c.1628A>T (p.Asn543Ile)
n.655A>T
7g.17339499T>ACA366894930AHRc.1674T>A (p.Asn558Lys)
c.1644T>A (p.Asn548Lys)
c.1629T>A (p.Asn543Lys)
n.656T>A
7g.17339499T>CCA454134116AHRc.1674T>C (p.Asn558=)
c.1644T>C (p.Asn548=)
c.1629T>C (p.Asn543=)
n.656T>C
7g.17339499T>GCA366894931AHRc.1674T>G (p.Asn558Lys)
c.1644T>G (p.Asn548Lys)
c.1629T>G (p.Asn543Lys)
n.656T>G
 gnomAD v4
7g.17339500G>ACA366894932AHRc.1675G>A (p.Glu559Lys)
c.1645G>A (p.Glu549Lys)
c.1630G>A (p.Glu544Lys)
n.657G>A
7g.17339500G>CCA366894933AHRc.1675G>C (p.Glu559Gln)
c.1645G>C (p.Glu549Gln)
c.1630G>C (p.Glu544Gln)
n.657G>C
7g.17339500G>TCA366894934AHRc.1675G>T (p.Glu559Ter)
c.1645G>T (p.Glu549Ter)
c.1630G>T (p.Glu544Ter)
n.657G>T
7g.17339501A>CCA366894937AHRc.1676A>C (p.Glu559Ala)
c.1646A>C (p.Glu549Ala)
c.1631A>C (p.Glu544Ala)
n.658A>C
7g.17339501A>GCA366894935AHRc.1676A>G (p.Glu559Gly)
c.1646A>G (p.Glu549Gly)
c.1631A>G (p.Glu544Gly)
n.658A>G
7g.17339501A>TCA366894936AHRc.1676A>T (p.Glu559Val)
c.1646A>T (p.Glu549Val)
c.1631A>T (p.Glu544Val)
n.658A>T
7g.17339502A>CCA366894938AHRc.1677A>C (p.Glu559Asp)
c.1647A>C (p.Glu549Asp)
c.1632A>C (p.Glu544Asp)
n.659A>C
7g.17339502A>GCA454134117AHRc.1677A>G (p.Glu559=)
c.1647A>G (p.Glu549=)
c.1632A>G (p.Glu544=)
n.659A>G
 gnomAD v4
7g.17339502A>TCA366894939AHRc.1677A>T (p.Glu559Asp)
c.1647A>T (p.Glu549Asp)
c.1632A>T (p.Glu544Asp)
n.659A>T
7g.17339503A>CCA366894940AHRc.1678A>C (p.Lys560Gln)
c.1648A>C (p.Lys550Gln)
c.1633A>C (p.Lys545Gln)
n.660A>C
7g.17339503A>GCA366894942AHRc.1678A>G (p.Lys560Glu)
c.1648A>G (p.Lys550Glu)
c.1633A>G (p.Lys545Glu)
n.660A>G
7g.17339503A>TCA366894941AHRc.1678A>T (p.Lys560Ter)
c.1648A>T (p.Lys550Ter)
c.1633A>T (p.Lys545Ter)
n.660A>T
7g.17339504A=CA1691323857AHRc.1679A= (p.Lys560=)
c.1649A= (p.Lys550=)
c.1634A= (p.Lys545=)
n.661A=
7g.17339504A>CCA366894943AHRc.1679A>C (p.Lys560Thr)
c.1649A>C (p.Lys550Thr)
c.1634A>C (p.Lys545Thr)
n.661A>C
 dbSNP gnomAD v2 gnomAD v4
7g.17339504A>GCA366894944AHRc.1679A>G (p.Lys560Arg)
c.1649A>G (p.Lys550Arg)
c.1634A>G (p.Lys545Arg)
n.661A>G
 gnomAD v4
7g.17339504A>TCA366894945AHRc.1679A>T (p.Lys560Ile)
c.1649A>T (p.Lys550Ile)
c.1634A>T (p.Lys545Ile)
n.661A>T
7g.17339505A>CCA366894946AHRc.1680A>C (p.Lys560Asn)
c.1650A>C (p.Lys550Asn)
c.1635A>C (p.Lys545Asn)
n.662A>C
 gnomAD v4
7g.17339505A>GCA454134118AHRc.1680A>G (p.Lys560=)
c.1650A>G (p.Lys550=)
c.1635A>G (p.Lys545=)
n.662A>G
7g.17339505A>TCA366894947AHRc.1680A>T (p.Lys560Asn)
c.1650A>T (p.Lys550Asn)
c.1635A>T (p.Lys545Asn)
n.662A>T
7g.17339506T>ACA366894948AHRc.1681T>A (p.Phe561Ile)
c.1651T>A (p.Phe551Ile)
c.1636T>A (p.Phe546Ile)
n.663T>A
 dbSNP gnomAD v3 gnomAD v4
7g.17339506T>CCA366894949AHRc.1681T>C (p.Phe561Leu)
c.1651T>C (p.Phe551Leu)
c.1636T>C (p.Phe546Leu)
n.663T>C
7g.17339506T>GCA366894950AHRc.1681T>G (p.Phe561Val)
c.1651T>G (p.Phe551Val)
c.1636T>G (p.Phe546Val)
n.663T>G
7g.17339506T=CA1691323858AHRc.1681T= (p.Phe561=)
c.1651T= (p.Phe551=)
c.1636T= (p.Phe546=)
n.663T=
7g.17339510delCA645548963AHRc.1685del (p.Phe562SerfsTer16)
c.1655del (p.Phe552SerfsTer16)
c.1640del (p.Phe547SerfsTer16)
n.667del
 COSMIC
7g.17339507T>ACA366894951AHRc.1682T>A (p.Phe561Tyr)
c.1652T>A (p.Phe551Tyr)
c.1637T>A (p.Phe546Tyr)
n.664T>A
7g.17339507T>CCA366894952AHRc.1682T>C (p.Phe561Ser)
c.1652T>C (p.Phe551Ser)
c.1637T>C (p.Phe546Ser)
n.664T>C
7g.17339507T>GCA366894953AHRc.1682T>G (p.Phe561Cys)
c.1652T>G (p.Phe551Cys)
c.1637T>G (p.Phe546Cys)
n.664T>G
7g.17339508T>ACA366894954AHRc.1683T>A (p.Phe561Leu)
c.1653T>A (p.Phe551Leu)
c.1638T>A (p.Phe546Leu)
n.665T>A
7g.17339508T>CCA454134119AHRc.1683T>C (p.Phe561=)
c.1653T>C (p.Phe551=)
c.1638T>C (p.Phe546=)
n.665T>C
 gnomAD v4
7g.17339508T>GCA366894955AHRc.1683T>G (p.Phe561Leu)
c.1653T>G (p.Phe551Leu)
c.1638T>G (p.Phe546Leu)
n.665T>G
7g.17339509T>ACA366894956AHRc.1684T>A (p.Phe562Ile)
c.1654T>A (p.Phe552Ile)
c.1639T>A (p.Phe547Ile)
n.666T>A
7g.17339509T>CCA366894958AHRc.1684T>C (p.Phe562Leu)
c.1654T>C (p.Phe552Leu)
c.1639T>C (p.Phe547Leu)
n.666T>C
7g.17339509T>GCA366894957AHRc.1684T>G (p.Phe562Val)
c.1654T>G (p.Phe552Val)
c.1639T>G (p.Phe547Val)
n.666T>G
 gnomAD v4
7g.17339510T>ACA366894959AHRc.1685T>A (p.Phe562Tyr)
c.1655T>A (p.Phe552Tyr)
c.1640T>A (p.Phe547Tyr)
n.667T>A
7g.17339510T>CCA366894960AHRc.1685T>C (p.Phe562Ser)
c.1655T>C (p.Phe552Ser)
c.1640T>C (p.Phe547Ser)
n.667T>C
 dbSNP gnomAD v3 gnomAD v4
7g.17339510T>GCA366894961AHRc.1685T>G (p.Phe562Cys)
c.1655T>G (p.Phe552Cys)
c.1640T>G (p.Phe547Cys)
n.667T>G
7g.17339510T=CA1691323859AHRc.1685T= (p.Phe562=)
c.1655T= (p.Phe552=)
c.1640T= (p.Phe547=)
n.667T=
7g.17339511C>ACA366894962AHRc.1686C>A (p.Phe562Leu)
c.1656C>A (p.Phe552Leu)
c.1641C>A (p.Phe547Leu)
n.668C>A
7g.17339511C>GCA366894963AHRc.1686C>G (p.Phe562Leu)
c.1656C>G (p.Phe552Leu)
c.1641C>G (p.Phe547Leu)
n.668C>G
7g.17339511C>TCA454134120AHRc.1686C>T (p.Phe562=)
c.1656C>T (p.Phe552=)
c.1641C>T (p.Phe547=)
n.668C>T
7g.17339512A>CCA454134121AHRc.1687A>C (p.Arg563=)
c.1657A>C (p.Arg553=)
c.1642A>C (p.Arg548=)
n.669A>C
7g.17339512A>GCA366894964AHRc.1687A>G (p.Arg563Gly)
c.1657A>G (p.Arg553Gly)
c.1642A>G (p.Arg548Gly)
n.669A>G
7g.17339512A>TCA366894965AHRc.1687A>T (p.Arg563Ter)
c.1657A>T (p.Arg553Ter)
c.1642A>T (p.Arg548Ter)
n.669A>T
7g.17339513G>ACA366894966AHRc.1688G>A (p.Arg563Lys)
c.1658G>A (p.Arg553Lys)
c.1643G>A (p.Arg548Lys)
n.670G>A
 dbSNP gnomAD v3 gnomAD v4
7g.17339513G>CCA366894967AHRc.1688G>C (p.Arg563Thr)
c.1658G>C (p.Arg553Thr)
c.1643G>C (p.Arg548Thr)
n.670G>C
7g.17339513G=CA1691323860AHRc.1688G= (p.Arg563=)
c.1658G= (p.Arg553=)
c.1643G= (p.Arg548=)
n.670G=
7g.17339513G>TCA366894968AHRc.1688G>T (p.Arg563Ile)
c.1658G>T (p.Arg553Ile)
c.1643G>T (p.Arg548Ile)
n.670G>T
7g.17339514A=CA1691323861AHRc.1689A= (p.Arg563=)
c.1659A= (p.Arg553=)
c.1644A= (p.Arg548=)
n.671A=
7g.17339514A>CCA366894969AHRc.1689A>C (p.Arg563Ser)
c.1659A>C (p.Arg553Ser)
c.1644A>C (p.Arg548Ser)
n.671A>C
 dbSNP gnomAD v2 gnomAD v4
7g.17339514A>GCA454134122AHRc.1689A>G (p.Arg563=)
c.1659A>G (p.Arg553=)
c.1644A>G (p.Arg548=)
n.671A>G
7g.17339514A>TCA366894970AHRc.1689A>T (p.Arg563Ser)
c.1659A>T (p.Arg553Ser)
c.1644A>T (p.Arg548Ser)
n.671A>T
7g.17339515A>CCA366894972AHRc.1690A>C (p.Asn564His)
c.1660A>C (p.Asn554His)
c.1645A>C (p.Asn549His)
n.672A>C
7g.17339515A>GCA366894973AHRc.1690A>G (p.Asn564Asp)
c.1660A>G (p.Asn554Asp)
c.1645A>G (p.Asn549Asp)
n.672A>G
7g.17339515A>TCA366894974AHRc.1690A>T (p.Asn564Tyr)
c.1660A>T (p.Asn554Tyr)
c.1645A>T (p.Asn549Tyr)
n.672A>T
 COSMIC
7g.17339516A>CCA366894975AHRc.1691A>C (p.Asn564Thr)
c.1661A>C (p.Asn554Thr)
c.1646A>C (p.Asn549Thr)
n.673A>C
7g.17339516A>GCA366894976AHRc.1691A>G (p.Asn564Ser)
c.1661A>G (p.Asn554Ser)
c.1646A>G (p.Asn549Ser)
n.673A>G
7g.17339516A>TCA366894977AHRc.1691A>T (p.Asn564Ile)
c.1661A>T (p.Asn554Ile)
c.1646A>T (p.Asn549Ile)
n.673A>T
7g.17339517T>ACA366894978AHRc.1692T>A (p.Asn564Lys)
c.1662T>A (p.Asn554Lys)
c.1647T>A (p.Asn549Lys)
n.674T>A
7g.17339517T>CCA454134123AHRc.1692T>C (p.Asn564=)
c.1662T>C (p.Asn554=)
c.1647T>C (p.Asn549=)
n.674T>C
 gnomAD v4
7g.17339517T>GCA366894979AHRc.1692T>G (p.Asn564Lys)
c.1662T>G (p.Asn554Lys)
c.1647T>G (p.Asn549Lys)
n.674T>G
7g.17339518G>ACA366894980AHRc.1693G>A (p.Asp565Asn)
c.1663G>A (p.Asp555Asn)
c.1648G>A (p.Asp550Asn)
n.675G>A
7g.17339518G>CCA366894981AHRc.1693G>C (p.Asp565His)
c.1663G>C (p.Asp555His)
c.1648G>C (p.Asp550His)
n.675G>C
7g.17339518G>TCA366894982AHRc.1693G>T (p.Asp565Tyr)
c.1663G>T (p.Asp555Tyr)
c.1648G>T (p.Asp550Tyr)
n.675G>T
 gnomAD v4
7g.17339519A=CA1691323862AHRc.1694A= (p.Asp565=)
c.1664A= (p.Asp555=)
c.1649A= (p.Asp550=)
n.676A=
7g.17339519A>CCA366894985AHRc.1694A>C (p.Asp565Ala)
c.1664A>C (p.Asp555Ala)
c.1649A>C (p.Asp550Ala)
n.676A>C
7g.17339519A>GCA366894984AHRc.1694A>G (p.Asp565Gly)
c.1664A>G (p.Asp555Gly)
c.1649A>G (p.Asp550Gly)
n.676A>G
 dbSNP gnomAD v2 gnomAD v4
7g.17339519A>TCA366894983AHRc.1694A>T (p.Asp565Val)
c.1664A>T (p.Asp555Val)
c.1649A>T (p.Asp550Val)
n.676A>T
7g.17339520T>ACA366894986AHRc.1695T>A (p.Asp565Glu)
c.1665T>A (p.Asp555Glu)
c.1650T>A (p.Asp550Glu)
n.677T>A
7g.17339520T>CCA454134124AHRc.1695T>C (p.Asp565=)
c.1665T>C (p.Asp555=)
c.1650T>C (p.Asp550=)
n.677T>C
7g.17339520T>GCA366894987AHRc.1695T>G (p.Asp565Glu)
c.1665T>G (p.Asp555Glu)
c.1650T>G (p.Asp550Glu)
n.677T>G
7g.17339521T>ACA366894988AHRc.1696T>A (p.Phe566Ile)
c.1666T>A (p.Phe556Ile)
c.1651T>A (p.Phe551Ile)
n.678T>A
 gnomAD v4
7g.17339521T>CCA366894989AHRc.1696T>C (p.Phe566Leu)
c.1666T>C (p.Phe556Leu)
c.1651T>C (p.Phe551Leu)
n.678T>C
7g.17339521T>GCA366894990AHRc.1696T>G (p.Phe566Val)
c.1666T>G (p.Phe556Val)
c.1651T>G (p.Phe551Val)
n.678T>G
7g.17339522T>ACA366894991AHRc.1697T>A (p.Phe566Tyr)
c.1667T>A (p.Phe556Tyr)
c.1652T>A (p.Phe551Tyr)
n.679T>A
7g.17339522T>CCA366894992AHRc.1697T>C (p.Phe566Ser)
c.1667T>C (p.Phe556Ser)
c.1652T>C (p.Phe551Ser)
n.679T>C
7g.17339522T>GCA366894993AHRc.1697T>G (p.Phe566Cys)
c.1667T>G (p.Phe556Cys)
c.1652T>G (p.Phe551Cys)
n.679T>G
7g.17339523T>ACA366894994AHRc.1698T>A (p.Phe566Leu)
c.1668T>A (p.Phe556Leu)
c.1653T>A (p.Phe551Leu)
n.680T>A
7g.17339523T>CCA454134125AHRc.1698T>C (p.Phe566=)
c.1668T>C (p.Phe556=)
c.1653T>C (p.Phe551=)
n.680T>C
7g.17339523T>GCA366894995AHRc.1698T>G (p.Phe566Leu)
c.1668T>G (p.Phe556Leu)
c.1653T>G (p.Phe551Leu)
n.680T>G
7g.17339524T>ACA366894996AHRc.1699T>A (p.Ser567Thr)
c.1669T>A (p.Ser557Thr)
c.1654T>A (p.Ser552Thr)
n.681T>A
7g.17339524T>CCA366894997AHRc.1699T>C (p.Ser567Pro)
c.1669T>C (p.Ser557Pro)
c.1654T>C (p.Ser552Pro)
n.681T>C
7g.17339524T>GCA366894998AHRc.1699T>G (p.Ser567Ala)
c.1669T>G (p.Ser557Ala)
c.1654T>G (p.Ser552Ala)
n.681T>G
7g.17339525C>ACA366895000AHRc.1700C>A (p.Ser567Tyr)
c.1670C>A (p.Ser557Tyr)
c.1655C>A (p.Ser552Tyr)
n.682C>A
7g.17339525C=CA1691323863AHRc.1700C= (p.Ser567=)
c.1670C= (p.Ser557=)
c.1655C= (p.Ser552=)
n.682C=
7g.17339525C>GCA4172167AHRc.1700C>G (p.Ser567Cys)
c.1670C>G (p.Ser557Cys)
c.1655C>G (p.Ser552Cys)
n.682C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339525C>TCA366894999AHRc.1700C>T (p.Ser567Phe)
c.1670C>T (p.Ser557Phe)
c.1655C>T (p.Ser552Phe)
n.682C>T
7g.17339526T>ACA454134126AHRc.1701T>A (p.Ser567=)
c.1671T>A (p.Ser557=)
c.1656T>A (p.Ser552=)
n.683T>A
7g.17339526T>CCA454134128AHRc.1701T>C (p.Ser567=)
c.1671T>C (p.Ser557=)
c.1656T>C (p.Ser552=)
n.683T>C
7g.17339526T>GCA454134127AHRc.1701T>G (p.Ser567=)
c.1671T>G (p.Ser557=)
c.1656T>G (p.Ser552=)
n.683T>G
7g.17339527G>ACA366895003AHRc.1702G>A (p.Gly568Ser)
c.1672G>A (p.Gly558Ser)
c.1657G>A (p.Gly553Ser)
n.684G>A
 COSMIC
7g.17339527G>CCA366895001AHRc.1702G>C (p.Gly568Arg)
c.1672G>C (p.Gly558Arg)
c.1657G>C (p.Gly553Arg)
n.684G>C
7g.17339527G>TCA366895002AHRc.1702G>T (p.Gly568Cys)
c.1672G>T (p.Gly558Cys)
c.1657G>T (p.Gly553Cys)
n.684G>T
7g.17339528G>ACA366895004AHRc.1703G>A (p.Gly568Asp)
c.1673G>A (p.Gly558Asp)
c.1658G>A (p.Gly553Asp)
 gnomAD v4
7g.17339528G>CCA366895005AHRc.1703G>C (p.Gly568Ala)
c.1673G>C (p.Gly558Ala)
c.1658G>C (p.Gly553Ala)
7g.17339528G=CA1691323864AHRc.1703G= (p.Gly568=)
c.1673G= (p.Gly558=)
c.1658G= (p.Gly553=)
7g.17339528G>TCA366895006AHRc.1703G>T (p.Gly568Val)
c.1673G>T (p.Gly558Val)
c.1658G>T (p.Gly553Val)
 dbSNP gnomAD v2 gnomAD v4
7g.17339529T>ACA454134129AHRc.1704T>A (p.Gly568=)
c.1674T>A (p.Gly558=)
c.1659T>A (p.Gly553=)
7g.17339529T>CCA454134130AHRc.1704T>C (p.Gly568=)
c.1674T>C (p.Gly558=)
c.1659T>C (p.Gly553=)
7g.17339529T>GCA454134131AHRc.1704T>G (p.Gly568=)
c.1674T>G (p.Gly558=)
c.1659T>G (p.Gly553=)
7g.17339530G>ACA366895007AHRc.1705G>A (p.Glu569Lys)
c.1675G>A (p.Glu559Lys)
c.1660G>A (p.Glu554Lys)
 COSMIC
7g.17339530G>CCA366895008AHRc.1705G>C (p.Glu569Gln)
c.1675G>C (p.Glu559Gln)
c.1660G>C (p.Glu554Gln)
7g.17339530G>TCA366895009AHRc.1705G>T (p.Glu569Ter)
c.1675G>T (p.Glu559Ter)
c.1660G>T (p.Glu554Ter)

Number of alleles fetched