Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.17339394T>ACA366894440AHRc.1569T>A (p.Phe523Leu)
c.1539T>A (p.Phe513Leu)
c.1524T>A (p.Phe508Leu)
n.551T>A
7g.17339394T>CCA4172149AHRc.1569T>C (p.Phe523=)
c.1539T>C (p.Phe513=)
c.1524T>C (p.Phe508=)
n.551T>C
 dbSNP ExAC
7g.17339394T>GCA366894441AHRc.1569T>G (p.Phe523Leu)
c.1539T>G (p.Phe513Leu)
c.1524T>G (p.Phe508Leu)
n.551T>G
7g.17339394T=CA1691323812AHRc.1569T= (p.Phe523=)
c.1539T= (p.Phe513=)
c.1524T= (p.Phe508=)
n.551T=
7g.17339395G>ACA366894446AHRc.1570G>A (p.Ala524Thr)
c.1540G>A (p.Ala514Thr)
c.1525G>A (p.Ala509Thr)
n.552G>A
7g.17339395G>CCA366894444AHRc.1570G>C (p.Ala524Pro)
c.1540G>C (p.Ala514Pro)
c.1525G>C (p.Ala509Pro)
n.552G>C
7g.17339395G>TCA366894442AHRc.1570G>T (p.Ala524Ser)
c.1540G>T (p.Ala514Ser)
c.1525G>T (p.Ala509Ser)
n.552G>T
7g.17339396C>ACA366894449AHRc.1571C>A (p.Ala524Asp)
c.1541C>A (p.Ala514Asp)
c.1526C>A (p.Ala509Asp)
n.553C>A
7g.17339396C>GCA366894451AHRc.1571C>G (p.Ala524Gly)
c.1541C>G (p.Ala514Gly)
c.1526C>G (p.Ala509Gly)
n.553C>G
7g.17339396C>TCA366894453AHRc.1571C>T (p.Ala524Val)
c.1541C>T (p.Ala514Val)
c.1526C>T (p.Ala509Val)
n.553C>T
7g.17339397T>ACA454134071AHRc.1572T>A (p.Ala524=)
c.1542T>A (p.Ala514=)
c.1527T>A (p.Ala509=)
n.554T>A
7g.17339397T>CCA454134073AHRc.1572T>C (p.Ala524=)
c.1542T>C (p.Ala514=)
c.1527T>C (p.Ala509=)
n.554T>C
7g.17339397T>GCA454134072AHRc.1572T>G (p.Ala524=)
c.1542T>G (p.Ala514=)
c.1527T>G (p.Ala509=)
n.554T>G
7g.17339398G>ACA366894457AHRc.1573G>A (p.Gly525Arg)
c.1543G>A (p.Gly515Arg)
c.1528G>A (p.Gly510Arg)
n.555G>A
7g.17339398G>CCA366894458AHRc.1573G>C (p.Gly525Arg)
c.1543G>C (p.Gly515Arg)
c.1528G>C (p.Gly510Arg)
n.555G>C
7g.17339398G>TCA366894460AHRc.1573G>T (p.Gly525Ter)
c.1543G>T (p.Gly515Ter)
c.1528G>T (p.Gly510Ter)
n.555G>T
7g.17339399G>ACA366894462AHRc.1574G>A (p.Gly525Glu)
c.1544G>A (p.Gly515Glu)
c.1529G>A (p.Gly510Glu)
n.556G>A
7g.17339399G>CCA366894464AHRc.1574G>C (p.Gly525Ala)
c.1544G>C (p.Gly515Ala)
c.1529G>C (p.Gly510Ala)
n.556G>C
7g.17339399G>TCA366894466AHRc.1574G>T (p.Gly525Val)
c.1544G>T (p.Gly515Val)
c.1529G>T (p.Gly510Val)
n.556G>T
7g.17339400A=CA1691323813AHRc.1575A= (p.Gly525=)
c.1545A= (p.Gly515=)
c.1530A= (p.Gly510=)
n.557A=
7g.17339400A>CCA4172150AHRc.1575A>C (p.Gly525=)
c.1545A>C (p.Gly515=)
c.1530A>C (p.Gly510=)
n.557A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339400A>GCA454134074AHRc.1575A>G (p.Gly525=)
c.1545A>G (p.Gly515=)
c.1530A>G (p.Gly510=)
n.557A>G
7g.17339400A>TCA454134075AHRc.1575A>T (p.Gly525=)
c.1545A>T (p.Gly515=)
c.1530A>T (p.Gly510=)
n.557A>T
7g.17339401G>ACA366894469AHRc.1576G>A (p.Gly526Ser)
c.1546G>A (p.Gly516Ser)
c.1531G>A (p.Gly511Ser)
n.558G>A
7g.17339401G>CCA366894470AHRc.1576G>C (p.Gly526Arg)
c.1546G>C (p.Gly516Arg)
c.1531G>C (p.Gly511Arg)
n.558G>C
 dbSNP gnomAD v2 gnomAD v4
7g.17339401G=CA1691323814AHRc.1576G= (p.Gly526=)
c.1546G= (p.Gly516=)
c.1531G= (p.Gly511=)
n.558G=
7g.17339401G>TCA366894472AHRc.1576G>T (p.Gly526Cys)
c.1546G>T (p.Gly516Cys)
c.1531G>T (p.Gly511Cys)
n.558G>T
7g.17339402G>ACA366894475AHRc.1577G>A (p.Gly526Asp)
c.1547G>A (p.Gly516Asp)
c.1532G>A (p.Gly511Asp)
n.559G>A
 gnomAD v4
7g.17339402G>CCA366894477AHRc.1577G>C (p.Gly526Ala)
c.1547G>C (p.Gly516Ala)
c.1532G>C (p.Gly511Ala)
n.559G>C
7g.17339402G>TCA366894474AHRc.1577G>T (p.Gly526Val)
c.1547G>T (p.Gly516Val)
c.1532G>T (p.Gly511Val)
n.559G>T
7g.17339403T>ACA454134076AHRc.1578T>A (p.Gly526=)
c.1548T>A (p.Gly516=)
c.1533T>A (p.Gly511=)
n.560T>A
7g.17339403T>CCA454134077AHRc.1578T>C (p.Gly526=)
c.1548T>C (p.Gly516=)
c.1533T>C (p.Gly511=)
n.560T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339403T>GCA454134078AHRc.1578T>G (p.Gly526=)
c.1548T>G (p.Gly516=)
c.1533T>G (p.Gly511=)
n.560T>G
 gnomAD v4
7g.17339403T=CA1691323815AHRc.1578T= (p.Gly526=)
c.1548T= (p.Gly516=)
c.1533T= (p.Gly511=)
n.560T=
7g.17339404C>ACA366894478AHRc.1579C>A (p.His527Asn)
c.1549C>A (p.His517Asn)
c.1534C>A (p.His512Asn)
n.561C>A
 gnomAD v4
7g.17339404C>GCA366894480AHRc.1579C>G (p.His527Asp)
c.1549C>G (p.His517Asp)
c.1534C>G (p.His512Asp)
n.561C>G
7g.17339404C>TCA366894479AHRc.1579C>T (p.His527Tyr)
c.1549C>T (p.His517Tyr)
c.1534C>T (p.His512Tyr)
n.561C>T
 gnomAD v4
7g.17339405A>CCA366894482AHRc.1580A>C (p.His527Pro)
c.1550A>C (p.His517Pro)
c.1535A>C (p.His512Pro)
n.562A>C
7g.17339405A>GCA366894484AHRc.1580A>G (p.His527Arg)
c.1550A>G (p.His517Arg)
c.1535A>G (p.His512Arg)
n.562A>G
7g.17339405A>TCA366894483AHRc.1580A>T (p.His527Leu)
c.1550A>T (p.His517Leu)
c.1535A>T (p.His512Leu)
n.562A>T
 gnomAD v4
7g.17339406C>ACA366894486AHRc.1581C>A (p.His527Gln)
c.1551C>A (p.His517Gln)
c.1536C>A (p.His512Gln)
n.563C>A
7g.17339406C>GCA366894488AHRc.1581C>G (p.His527Gln)
c.1551C>G (p.His517Gln)
c.1536C>G (p.His512Gln)
n.563C>G
7g.17339406C>TCA454134079AHRc.1581C>T (p.His527=)
c.1551C>T (p.His517=)
c.1536C>T (p.His512=)
n.563C>T
 gnomAD v4
7g.17339407C>ACA366894490AHRc.1582C>A (p.Pro528Thr)
c.1552C>A (p.Pro518Thr)
c.1537C>A (p.Pro513Thr)
n.564C>A
 gnomAD v4
7g.17339407C>GCA366894491AHRc.1582C>G (p.Pro528Ala)
c.1552C>G (p.Pro518Ala)
c.1537C>G (p.Pro513Ala)
n.564C>G
 gnomAD v4
7g.17339407C>TCA366894493AHRc.1582C>T (p.Pro528Ser)
c.1552C>T (p.Pro518Ser)
c.1537C>T (p.Pro513Ser)
n.564C>T
7g.17339408C>ACA366894495AHRc.1583C>A (p.Pro528Gln)
c.1553C>A (p.Pro518Gln)
c.1538C>A (p.Pro513Gln)
n.565C>A
7g.17339408C>GCA366894497AHRc.1583C>G (p.Pro528Arg)
c.1553C>G (p.Pro518Arg)
c.1538C>G (p.Pro513Arg)
n.565C>G
7g.17339408C>TCA366894499AHRc.1583C>T (p.Pro528Leu)
c.1553C>T (p.Pro518Leu)
c.1538C>T (p.Pro513Leu)
n.565C>T
 gnomAD v4
7g.17339409A>CCA454134080AHRc.1584A>C (p.Pro528=)
c.1554A>C (p.Pro518=)
c.1539A>C (p.Pro513=)
n.566A>C
7g.17339409A>GCA454134082AHRc.1584A>G (p.Pro528=)
c.1554A>G (p.Pro518=)
c.1539A>G (p.Pro513=)
n.566A>G
7g.17339409A>TCA454134081AHRc.1584A>T (p.Pro528=)
c.1554A>T (p.Pro518=)
c.1539A>T (p.Pro513=)
n.566A>T
 gnomAD v4
7g.17339410G>ACA366894501AHRc.1585G>A (p.Gly529Arg)
c.1555G>A (p.Gly519Arg)
c.1540G>A (p.Gly514Arg)
n.567G>A
7g.17339410G>CCA366894503AHRc.1585G>C (p.Gly529Arg)
c.1555G>C (p.Gly519Arg)
c.1540G>C (p.Gly514Arg)
n.567G>C
7g.17339410G>TCA366894505AHRc.1585G>T (p.Gly529Trp)
c.1555G>T (p.Gly519Trp)
c.1540G>T (p.Gly514Trp)
n.567G>T
7g.17339411G>ACA366894521AHRc.1586G>A (p.Gly529Glu)
c.1556G>A (p.Gly519Glu)
c.1541G>A (p.Gly514Glu)
n.568G>A
7g.17339411G>CCA366894508AHRc.1586G>C (p.Gly529Ala)
c.1556G>C (p.Gly519Ala)
c.1541G>C (p.Gly514Ala)
n.568G>C
7g.17339411G>TCA366894512AHRc.1586G>T (p.Gly529Val)
c.1556G>T (p.Gly519Val)
c.1541G>T (p.Gly514Val)
n.568G>T
7g.17339412G>ACA4172151AHRc.1587G>A (p.Gly529=)
c.1557G>A (p.Gly519=)
c.1542G>A (p.Gly514=)
n.569G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339412G>CCA454134083AHRc.1587G>C (p.Gly529=)
c.1557G>C (p.Gly519=)
c.1542G>C (p.Gly514=)
n.569G>C
7g.17339412G=CA1691323816AHRc.1587G= (p.Gly529=)
c.1557G= (p.Gly519=)
c.1542G= (p.Gly514=)
n.569G=
7g.17339412G>TCA454134084AHRc.1587G>T (p.Gly529=)
c.1557G>T (p.Gly519=)
c.1542G>T (p.Gly514=)
n.569G>T
 gnomAD v4
7g.17339413C>ACA366894529AHRc.1588C>A (p.Leu530Ile)
c.1558C>A (p.Leu520Ile)
c.1543C>A (p.Leu515Ile)
n.570C>A
7g.17339413C=CA1691323817AHRc.1588C= (p.Leu530=)
c.1558C= (p.Leu520=)
c.1543C= (p.Leu515=)
n.570C=
7g.17339413C>GCA366894531AHRc.1588C>G (p.Leu530Val)
c.1558C>G (p.Leu520Val)
c.1543C>G (p.Leu515Val)
n.570C>G
7g.17339413C>TCA4172152AHRc.1588C>T (p.Leu530Phe)
c.1558C>T (p.Leu520Phe)
c.1543C>T (p.Leu515Phe)
n.570C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339414T>ACA366894534AHRc.1589T>A (p.Leu530His)
c.1559T>A (p.Leu520His)
c.1544T>A (p.Leu515His)
n.571T>A
7g.17339414T>CCA366894535AHRc.1589T>C (p.Leu530Pro)
c.1559T>C (p.Leu520Pro)
c.1544T>C (p.Leu515Pro)
n.571T>C
7g.17339414T>GCA366894536AHRc.1589T>G (p.Leu530Arg)
c.1559T>G (p.Leu520Arg)
c.1544T>G (p.Leu515Arg)
n.571T>G
7g.17339415C>ACA454134085AHRc.1590C>A (p.Leu530=)
c.1560C>A (p.Leu520=)
c.1545C>A (p.Leu515=)
n.572C>A
7g.17339415C>GCA454134086AHRc.1590C>G (p.Leu530=)
c.1560C>G (p.Leu520=)
c.1545C>G (p.Leu515=)
n.572C>G
 gnomAD v4
7g.17339415C>TCA454134087AHRc.1590C>T (p.Leu530=)
c.1560C>T (p.Leu520=)
c.1545C>T (p.Leu515=)
n.572C>T
7g.17339416T>ACA366894538AHRc.1591T>A (p.Phe531Ile)
c.1561T>A (p.Phe521Ile)
c.1546T>A (p.Phe516Ile)
n.573T>A
7g.17339416T>CCA4172153AHRc.1591T>C (p.Phe531Leu)
c.1561T>C (p.Phe521Leu)
c.1546T>C (p.Phe516Leu)
n.573T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339416T>GCA366894541AHRc.1591T>G (p.Phe531Val)
c.1561T>G (p.Phe521Val)
c.1546T>G (p.Phe516Val)
n.573T>G
7g.17339416T=CA1691323818AHRc.1591T= (p.Phe531=)
c.1561T= (p.Phe521=)
c.1546T= (p.Phe516=)
n.573T=
7g.17339417T>ACA366894548AHRc.1592T>A (p.Phe531Tyr)
c.1562T>A (p.Phe521Tyr)
c.1547T>A (p.Phe516Tyr)
n.574T>A
7g.17339417T>CCA366894546AHRc.1592T>C (p.Phe531Ser)
c.1562T>C (p.Phe521Ser)
c.1547T>C (p.Phe516Ser)
n.574T>C
7g.17339417T>GCA366894544AHRc.1592T>G (p.Phe531Cys)
c.1562T>G (p.Phe521Cys)
c.1547T>G (p.Phe516Cys)
n.574T>G
7g.17339418T>ACA366894550AHRc.1593T>A (p.Phe531Leu)
c.1563T>A (p.Phe521Leu)
c.1548T>A (p.Phe516Leu)
n.575T>A
7g.17339418T>CCA454134088AHRc.1593T>C (p.Phe531=)
c.1563T>C (p.Phe521=)
c.1548T>C (p.Phe516=)
n.575T>C
7g.17339418T>GCA366894552AHRc.1593T>G (p.Phe531Leu)
c.1563T>G (p.Phe521Leu)
c.1548T>G (p.Phe516Leu)
n.575T>G
7g.17339419C>ACA366894557AHRc.1594C>A (p.Gln532Lys)
c.1564C>A (p.Gln522Lys)
c.1549C>A (p.Gln517Lys)
n.576C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339419C=CA1691323819AHRc.1594C= (p.Gln532=)
c.1564C= (p.Gln522=)
c.1549C= (p.Gln517=)
n.576C=
7g.17339419C>GCA366894558AHRc.1594C>G (p.Gln532Glu)
c.1564C>G (p.Gln522Glu)
c.1549C>G (p.Gln517Glu)
n.576C>G
 dbSNP gnomAD v3 gnomAD v4
7g.17339419C>TCA366894560AHRc.1594C>T (p.Gln532Ter)
c.1564C>T (p.Gln522Ter)
c.1549C>T (p.Gln517Ter)
n.576C>T
7g.17339420A>CCA366894563AHRc.1595A>C (p.Gln532Pro)
c.1565A>C (p.Gln522Pro)
c.1550A>C (p.Gln517Pro)
n.577A>C
7g.17339420A>GCA366894564AHRc.1595A>G (p.Gln532Arg)
c.1565A>G (p.Gln522Arg)
c.1550A>G (p.Gln517Arg)
n.577A>G
7g.17339420A>TCA366894566AHRc.1595A>T (p.Gln532Leu)
c.1565A>T (p.Gln522Leu)
c.1550A>T (p.Gln517Leu)
n.577A>T
7g.17339421A=CA1691323820AHRc.1596A= (p.Gln532=)
c.1566A= (p.Gln522=)
c.1551A= (p.Gln517=)
n.578A=
7g.17339421A>CCA366894567AHRc.1596A>C (p.Gln532His)
c.1566A>C (p.Gln522His)
c.1551A>C (p.Gln517His)
n.578A>C
7g.17339421A>GCA454134089AHRc.1596A>G (p.Gln532=)
c.1566A>G (p.Gln522=)
c.1551A>G (p.Gln517=)
n.578A>G
 dbSNP gnomAD v4
7g.17339421A>TCA366894569AHRc.1596A>T (p.Gln532His)
c.1566A>T (p.Gln522His)
c.1551A>T (p.Gln517His)
n.578A>T
7g.17339422G>ACA366894570AHRc.1597G>A (p.Asp533Asn)
c.1567G>A (p.Asp523Asn)
c.1552G>A (p.Asp518Asn)
n.579G>A
 gnomAD v4
7g.17339422G>CCA366894571AHRc.1597G>C (p.Asp533His)
c.1567G>C (p.Asp523His)
c.1552G>C (p.Asp518His)
n.579G>C
 gnomAD v4
7g.17339422G>TCA366894573AHRc.1597G>T (p.Asp533Tyr)
c.1567G>T (p.Asp523Tyr)
c.1552G>T (p.Asp518Tyr)
n.579G>T
7g.17339423A=CA1691323821AHRc.1598A= (p.Asp533=)
c.1568A= (p.Asp523=)
c.1553A= (p.Asp518=)
n.580A=
7g.17339423A>CCA366894576AHRc.1598A>C (p.Asp533Ala)
c.1568A>C (p.Asp523Ala)
c.1553A>C (p.Asp518Ala)
n.580A>C
7g.17339423A>GCA366894579AHRc.1598A>G (p.Asp533Gly)
c.1568A>G (p.Asp523Gly)
c.1553A>G (p.Asp518Gly)
n.580A>G
 dbSNP
7g.17339423A>TCA366894577AHRc.1598A>T (p.Asp533Val)
c.1568A>T (p.Asp523Val)
c.1553A>T (p.Asp518Val)
n.580A>T
7g.17339424T>ACA366894582AHRc.1599T>A (p.Asp533Glu)
c.1569T>A (p.Asp523Glu)
c.1554T>A (p.Asp518Glu)
n.581T>A
7g.17339424T>CCA4172154AHRc.1599T>C (p.Asp533=)
c.1569T>C (p.Asp523=)
c.1554T>C (p.Asp518=)
n.581T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339424T>GCA366894583AHRc.1599T>G (p.Asp533Glu)
c.1569T>G (p.Asp523Glu)
c.1554T>G (p.Asp518Glu)
n.581T>G
7g.17339424T=CA1691323822AHRc.1599T= (p.Asp533=)
c.1569T= (p.Asp523=)
c.1554T= (p.Asp518=)
n.581T=
7g.17339425A=CA1691323823AHRc.1600A= (p.Ser534=)
c.1570A= (p.Ser524=)
c.1555A= (p.Ser519=)
n.582A=
7g.17339425A>CCA366894584AHRc.1600A>C (p.Ser534Arg)
c.1570A>C (p.Ser524Arg)
c.1555A>C (p.Ser519Arg)
n.582A>C
7g.17339425A>GCA4172155AHRc.1600A>G (p.Ser534Gly)
c.1570A>G (p.Ser524Gly)
c.1555A>G (p.Ser519Gly)
n.582A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339425A>TCA366894586AHRc.1600A>T (p.Ser534Cys)
c.1570A>T (p.Ser524Cys)
c.1555A>T (p.Ser519Cys)
n.582A>T
 COSMIC
7g.17339426G>ACA366894589AHRc.1601G>A (p.Ser534Asn)
c.1571G>A (p.Ser524Asn)
c.1556G>A (p.Ser519Asn)
n.583G>A
 gnomAD v4
7g.17339426G>CCA366894590AHRc.1601G>C (p.Ser534Thr)
c.1571G>C (p.Ser524Thr)
c.1556G>C (p.Ser519Thr)
n.583G>C
7g.17339426G>TCA366894591AHRc.1601G>T (p.Ser534Ile)
c.1571G>T (p.Ser524Ile)
c.1556G>T (p.Ser519Ile)
n.583G>T
7g.17339427T>ACA366894594AHRc.1602T>A (p.Ser534Arg)
c.1572T>A (p.Ser524Arg)
c.1557T>A (p.Ser519Arg)
n.584T>A
7g.17339427T>CCA454134090AHRc.1602T>C (p.Ser534=)
c.1572T>C (p.Ser524=)
c.1557T>C (p.Ser519=)
n.584T>C
7g.17339427T>GCA366894595AHRc.1602T>G (p.Ser534Arg)
c.1572T>G (p.Ser524Arg)
c.1557T>G (p.Ser519Arg)
n.584T>G
7g.17339428A=CA1691323824AHRc.1603A= (p.Lys535=)
c.1573A= (p.Lys525=)
c.1558A= (p.Lys520=)
n.585A=
7g.17339428A>CCA366894599AHRc.1603A>C (p.Lys535Gln)
c.1573A>C (p.Lys525Gln)
c.1558A>C (p.Lys520Gln)
n.585A>C
7g.17339428A>GCA366894601AHRc.1603A>G (p.Lys535Glu)
c.1573A>G (p.Lys525Glu)
c.1558A>G (p.Lys520Glu)
n.585A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.17339428A>TCA366894597AHRc.1603A>T (p.Lys535Ter)
c.1573A>T (p.Lys525Ter)
c.1558A>T (p.Lys520Ter)
n.585A>T
7g.17339429A>CCA366894607AHRc.1604A>C (p.Lys535Thr)
c.1574A>C (p.Lys525Thr)
c.1559A>C (p.Lys520Thr)
n.586A>C
7g.17339429A>GCA366894603AHRc.1604A>G (p.Lys535Arg)
c.1574A>G (p.Lys525Arg)
c.1559A>G (p.Lys520Arg)
n.586A>G
 ClinVar dbSNP
7g.17339429A>TCA366894605AHRc.1604A>T (p.Lys535Ile)
c.1574A>T (p.Lys525Ile)
c.1559A>T (p.Lys520Ile)
n.586A>T
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
 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

Number of alleles fetched