Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133777121C>ACA354611198TFc.1945C>A (p.Leu649Met)
c.676C>A
n.2939C>A
c.1813C>A (p.Leu605Met)
c.1564C>A (p.Leu522Met)
3g.133777121C=CA1403124873TFc.1945C= (p.Leu649=)
c.676C=
n.2939C=
c.1813C= (p.Leu605=)
c.1564C= (p.Leu522=)
3g.133777121C>GCA354611200TFc.1945C>G (p.Leu649Val)
c.676C>G
n.2939C>G
c.1813C>G (p.Leu605Val)
c.1564C>G (p.Leu522Val)
 gnomAD v4
3g.133777121C>TCA435815930TFc.1945C>T (p.Leu649=)
c.676C>T
n.2939C>T
c.1813C>T (p.Leu605=)
c.1564C>T (p.Leu522=)
 dbSNP gnomAD v2 gnomAD v4
3g.133777122T>ACA354611207TFc.1946T>A (p.Leu649Gln)
c.677T>A
n.2940T>A
c.1814T>A (p.Leu605Gln)
c.1565T>A (p.Leu522Gln)
3g.133777122T>CCA354611205TFc.1946T>C (p.Leu649Pro)
c.677T>C
n.2940T>C
c.1814T>C (p.Leu605Pro)
c.1565T>C (p.Leu522Pro)
3g.133777122T>GCA354611203TFc.1946T>G (p.Leu649Arg)
c.677T>G
n.2940T>G
c.1814T>G (p.Leu605Arg)
c.1565T>G (p.Leu522Arg)
3g.133777123G>ACA435815931TFc.1947G>A (p.Leu649=)
c.678G>A
n.2941G>A
c.1815G>A (p.Leu605=)
c.1566G>A (p.Leu522=)
 gnomAD v4
3g.133777123G>CCA435815932TFc.1947G>C (p.Leu649=)
c.678G>C
n.2941G>C
c.1815G>C (p.Leu605=)
c.1566G>C (p.Leu522=)
3g.133777123G>TCA435815933TFc.1947G>T (p.Leu649=)
c.678G>T
n.2941G>T
c.1815G>T (p.Leu605=)
c.1566G>T (p.Leu522=)
3g.133777124T>ACA354611209TFc.1948T>A (p.Phe650Ile)
c.679T>A
n.2942T>A
c.1816T>A (p.Phe606Ile)
c.1567T>A (p.Phe523Ile)
3g.133777124T>CCA354611213TFc.1948T>C (p.Phe650Leu)
c.679T>C
n.2942T>C
c.1816T>C (p.Phe606Leu)
c.1567T>C (p.Phe523Leu)
3g.133777124T>GCA354611211TFc.1948T>G (p.Phe650Val)
c.679T>G
n.2942T>G
c.1816T>G (p.Phe606Val)
c.1567T>G (p.Phe523Val)
3g.133777125T>ACA354611215TFc.1949T>A (p.Phe650Tyr)
c.680T>A
n.2943T>A
c.1817T>A (p.Phe606Tyr)
c.1568T>A (p.Phe523Tyr)
3g.133777125T>CCA354611220TFc.1949T>C (p.Phe650Ser)
c.680T>C
n.2943T>C
c.1817T>C (p.Phe606Ser)
c.1568T>C (p.Phe523Ser)
3g.133777125T>GCA354611217TFc.1949T>G (p.Phe650Cys)
c.680T>G
n.2943T>G
c.1817T>G (p.Phe606Cys)
c.1568T>G (p.Phe523Cys)
3g.133777126C>ACA354611223TFc.1950C>A (p.Phe650Leu)
c.681C>A
n.2944C>A
c.1818C>A (p.Phe606Leu)
c.1569C>A (p.Phe523Leu)
3g.133777126C>GCA354611225TFc.1950C>G (p.Phe650Leu)
c.681C>G
n.2944C>G
c.1818C>G (p.Phe606Leu)
c.1569C>G (p.Phe523Leu)
3g.133777126C>TCA435815934TFc.1950C>T (p.Phe650=)
c.681C>T
n.2944C>T
c.1818C>T (p.Phe606=)
c.1569C>T (p.Phe523=)
3g.133777127A>CCA435815935TFc.1951A>C (p.Arg651=)
c.682A>C
n.2945A>C
c.1819A>C (p.Arg607=)
c.1570A>C (p.Arg524=)
3g.133777127A>GCA354611228TFc.1951A>G (p.Arg651Gly)
c.682A>G
n.2945A>G
c.1819A>G (p.Arg607Gly)
c.1570A>G (p.Arg524Gly)
3g.133777127A>TCA354611229TFc.1951A>T (p.Arg651Ter)
c.682A>T
n.2945A>T
c.1819A>T (p.Arg607Ter)
c.1570A>T (p.Arg524Ter)
3g.133777128G>ACA354611232TFc.1952G>A (p.Arg651Lys)
c.683G>A
n.2946G>A
c.1820G>A (p.Arg607Lys)
c.1571G>A (p.Arg524Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133777128G>CCA354611234TFc.1952G>C (p.Arg651Thr)
c.683G>C
n.2946G>C
c.1820G>C (p.Arg607Thr)
c.1571G>C (p.Arg524Thr)
 dbSNP
3g.133777128G=CA1403124876TFc.1952G= (p.Arg651=)
c.683G=
n.2946G=
c.1820G= (p.Arg607=)
c.1571G= (p.Arg524=)
3g.133777128G>TCA354611236TFc.1952G>T (p.Arg651Ile)
c.683G>T
n.2946G>T
c.1820G>T (p.Arg607Ile)
c.1571G>T (p.Arg524Ile)
3g.133777128_133777130delCA2667772269TFc.1952_1954del (p.Arg651_Asp652delinsAsn)
c.683_685del
n.2946_2948del
c.1820_1822del (p.Arg607_Asp608delinsAsn)
c.1571_1573del (p.Arg524_Asp525delinsAsn)
 gnomAD v4
3g.133777129A>CCA354611238TFc.1953A>C (p.Arg651Ser)
c.684A>C
n.2947A>C
c.1821A>C (p.Arg607Ser)
c.1572A>C (p.Arg524Ser)
3g.133777129A>GCA435815936TFc.1953A>G (p.Arg651=)
c.684A>G
n.2947A>G
c.1821A>G (p.Arg607=)
c.1572A>G (p.Arg524=)
3g.133777129A>TCA354611241TFc.1953A>T (p.Arg651Ser)
c.684A>T
n.2947A>T
c.1821A>T (p.Arg607Ser)
c.1572A>T (p.Arg524Ser)
3g.133777130G>ACA354611244TFc.1954G>A (p.Asp652Asn)
c.685G>A
n.2948G>A
c.1822G>A (p.Asp608Asn)
c.1573G>A (p.Asp525Asn)
3g.133777130G>CCA354611246TFc.1954G>C (p.Asp652His)
c.685G>C
n.2948G>C
c.1822G>C (p.Asp608His)
c.1573G>C (p.Asp525His)
3g.133777130G=CA1403124879TFc.1954G= (p.Asp652=)
c.685G=
n.2948G=
c.1822G= (p.Asp608=)
c.1573G= (p.Asp525=)
3g.133777130G>TCA354611248TFc.1954G>T (p.Asp652Tyr)
c.685G>T
n.2948G>T
c.1822G>T (p.Asp608Tyr)
c.1573G>T (p.Asp525Tyr)
 dbSNP
3g.133777131A>CCA354611251TFc.1955A>C (p.Asp652Ala)
c.686A>C
n.2949A>C
c.1823A>C (p.Asp608Ala)
c.1574A>C (p.Asp525Ala)
3g.133777131A>GCA354611253TFc.1955A>G (p.Asp652Gly)
c.686A>G
n.2949A>G
c.1823A>G (p.Asp608Gly)
c.1574A>G (p.Asp525Gly)
3g.133777131A>TCA354611255TFc.1955A>T (p.Asp652Val)
c.686A>T
n.2949A>T
c.1823A>T (p.Asp608Val)
c.1574A>T (p.Asp525Val)
 gnomAD v4
3g.133777132T>ACA354611257TFc.1956T>A (p.Asp652Glu)
c.687T>A
n.2950T>A
c.1824T>A (p.Asp608Glu)
c.1575T>A (p.Asp525Glu)
 gnomAD v4
3g.133777132T>CCA83694373TFc.1956T>C (p.Asp652=)
c.687T>C
n.2950T>C
c.1824T>C (p.Asp608=)
c.1575T>C (p.Asp525=)
 dbSNP
3g.133777132T>GCA354611259TFc.1956T>G (p.Asp652Glu)
c.687T>G
n.2950T>G
c.1824T>G (p.Asp608Glu)
c.1575T>G (p.Asp525Glu)
3g.133777132T=CA1403124882TFc.1956T= (p.Asp652=)
c.687T=
n.2950T=
c.1824T= (p.Asp608=)
c.1575T= (p.Asp525=)
3g.133777133G>ACA83694379TFc.1957G>A (p.Asp653Asn)
c.688G>A
n.2951G>A
c.1825G>A (p.Asp609Asn)
c.1576G>A (p.Asp526Asn)
 dbSNP
3g.133777133G>CCA354611265TFc.1957G>C (p.Asp653His)
c.688G>C
n.2951G>C
c.1825G>C (p.Asp609His)
c.1576G>C (p.Asp526His)
3g.133777133G=CA1403124887TFc.1957G= (p.Asp653=)
c.688G=
n.2951G=
c.1825G= (p.Asp609=)
c.1576G= (p.Asp526=)
3g.133777133G>TCA354611263TFc.1957G>T (p.Asp653Tyr)
c.688G>T
n.2951G>T
c.1825G>T (p.Asp609Tyr)
c.1576G>T (p.Asp526Tyr)
 gnomAD v4
3g.133777134A=CA1403124891TFc.1958A= (p.Asp653=)
c.689A=
n.2952A=
c.1826A= (p.Asp609=)
c.1577A= (p.Asp526=)
3g.133777134A>CCA354611267TFc.1958A>C (p.Asp653Ala)
c.689A>C
n.2952A>C
c.1826A>C (p.Asp609Ala)
c.1577A>C (p.Asp526Ala)
3g.133777134A>GCA354611269TFc.1958A>G (p.Asp653Gly)
c.689A>G
n.2952A>G
c.1826A>G (p.Asp609Gly)
c.1577A>G (p.Asp526Gly)
 dbSNP
3g.133777134A>TCA354611271TFc.1958A>T (p.Asp653Val)
c.689A>T
n.2952A>T
c.1826A>T (p.Asp609Val)
c.1577A>T (p.Asp526Val)
3g.133777135C>ACA354611272TFc.1959C>A (p.Asp653Glu)
c.690C>A
n.2953C>A
c.1827C>A (p.Asp609Glu)
c.1578C>A (p.Asp526Glu)
3g.133777135C>GCA354611273TFc.1959C>G (p.Asp653Glu)
c.690C>G
n.2953C>G
c.1827C>G (p.Asp609Glu)
c.1578C>G (p.Asp526Glu)
3g.133777135C>TCA435815937TFc.1959C>T (p.Asp653=)
c.690C>T
n.2953C>T
c.1827C>T (p.Asp609=)
c.1578C>T (p.Asp526=)
 gnomAD v4
3g.133777136A>CCA354611274TFc.1960A>C (p.Thr654Pro)
c.691A>C
n.2954A>C
c.1828A>C (p.Thr610Pro)
c.1579A>C (p.Thr527Pro)
3g.133777136A>GCA354611275TFc.1960A>G (p.Thr654Ala)
c.691A>G
n.2954A>G
c.1828A>G (p.Thr610Ala)
c.1579A>G (p.Thr527Ala)
3g.133777136A>TCA354611276TFc.1960A>T (p.Thr654Ser)
c.691A>T
n.2954A>T
c.1828A>T (p.Thr610Ser)
c.1579A>T (p.Thr527Ser)
3g.133777137C>ACA354611277TFc.1961C>A (p.Thr654Lys)
c.692C>A
n.2955C>A
c.1829C>A (p.Thr610Lys)
c.1580C>A (p.Thr527Lys)
3g.133777137C=CA1403124899TFc.1961C= (p.Thr654=)
c.692C=
n.2955C=
c.1829C= (p.Thr610=)
c.1580C= (p.Thr527=)
3g.133777137C>GCA354611278TFc.1961C>G (p.Thr654Arg)
c.692C>G
n.2955C>G
c.1829C>G (p.Thr610Arg)
c.1580C>G (p.Thr527Arg)
 COSMIC
3g.133777137C>TCA354611279TFc.1961C>T (p.Thr654Ile)
c.692C>T
n.2955C>T
c.1829C>T (p.Thr610Ile)
c.1580C>T (p.Thr527Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.133777138A=CA1403124907TFc.1962A= (p.Thr654=)
c.693A=
n.2956A=
c.1830A= (p.Thr610=)
c.1581A= (p.Thr527=)
3g.133777138A>CCA2625464TFc.1962A>C (p.Thr654=)
c.693A>C
n.2956A>C
c.1830A>C (p.Thr610=)
c.1581A>C (p.Thr527=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777138A>GCA435815938TFc.1962A>G (p.Thr654=)
c.693A>G
n.2956A>G
c.1830A>G (p.Thr610=)
c.1581A>G (p.Thr527=)
3g.133777138A>TCA435815939TFc.1962A>T (p.Thr654=)
c.693A>T
n.2956A>T
c.1830A>T (p.Thr610=)
c.1581A>T (p.Thr527=)
3g.133777139G>ACA354611284TFc.1963G>A (p.Val655Ile)
c.694G>A
n.2957G>A
c.1831G>A (p.Val611Ile)
c.1582G>A (p.Val528Ile)
 gnomAD v4 COSMIC
3g.133777139G>CCA354611280TFc.1963G>C (p.Val655Leu)
c.694G>C
n.2957G>C
c.1831G>C (p.Val611Leu)
c.1582G>C (p.Val528Leu)
3g.133777139G>TCA354611283TFc.1963G>T (p.Val655Leu)
c.694G>T
n.2957G>T
c.1831G>T (p.Val611Leu)
c.1582G>T (p.Val528Leu)
3g.133777140T>ACA354611286TFc.1964T>A (p.Val655Glu)
c.695T>A
n.2958T>A
c.1832T>A (p.Val611Glu)
c.1583T>A (p.Val528Glu)
3g.133777140T>CCA354611288TFc.1964T>C (p.Val655Ala)
c.695T>C
n.2958T>C
c.1832T>C (p.Val611Ala)
c.1583T>C (p.Val528Ala)
3g.133777140T>GCA354611290TFc.1964T>G (p.Val655Gly)
c.695T>G
n.2958T>G
c.1832T>G (p.Val611Gly)
c.1583T>G (p.Val528Gly)
3g.133777141A=CA1403124911TFc.1965A= (p.Val655=)
c.696A=
n.2959A=
c.1833A= (p.Val611=)
c.1584A= (p.Val528=)
3g.133777141A>CCA435815940TFc.1965A>C (p.Val655=)
c.696A>C
n.2959A>C
c.1833A>C (p.Val611=)
c.1584A>C (p.Val528=)
 dbSNP gnomAD v2 gnomAD v4
3g.133777141A>GCA2625465TFc.1965A>G (p.Val655=)
c.696A>G
n.2959A>G
c.1833A>G (p.Val611=)
c.1584A>G (p.Val528=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777141A>TCA435815941TFc.1965A>T (p.Val655=)
c.696A>T
n.2959A>T
c.1833A>T (p.Val611=)
c.1584A>T (p.Val528=)
3g.133777142T>ACA354611294TFc.1966T>A (p.Cys656Ser)
c.697T>A
n.2960T>A
c.1834T>A (p.Cys612Ser)
c.1585T>A (p.Cys529Ser)
3g.133777142T>CCA354611295TFc.1966T>C (p.Cys656Arg)
c.697T>C
n.2960T>C
c.1834T>C (p.Cys612Arg)
c.1585T>C (p.Cys529Arg)
3g.133777142T>GCA354611296TFc.1966T>G (p.Cys656Gly)
c.697T>G
n.2960T>G
c.1834T>G (p.Cys612Gly)
c.1585T>G (p.Cys529Gly)
3g.133777144_133777147delCA2577907430TFc.1968_1971del (p.Cys656TrpfsTer14)
c.699_702del
n.2962_2965del
c.1836_1839del (p.Cys612TrpfsTer14)
c.1587_1590del (p.Cys529TrpfsTer14)
3g.133777143G>ACA354611299TFc.1967G>A (p.Cys656Tyr)
c.698G>A
n.2961G>A
c.1835G>A (p.Cys612Tyr)
c.1586G>A (p.Cys529Tyr)
 gnomAD v4
3g.133777143G>CCA354611301TFc.1967G>C (p.Cys656Ser)
c.698G>C
n.2961G>C
c.1835G>C (p.Cys612Ser)
c.1586G>C (p.Cys529Ser)
3g.133777143G>TCA354611302TFc.1967G>T (p.Cys656Phe)
c.698G>T
n.2961G>T
c.1835G>T (p.Cys612Phe)
c.1586G>T (p.Cys529Phe)
3g.133777144T>ACA354611307TFc.1968T>A (p.Cys656Ter)
c.699T>A
n.2962T>A
c.1836T>A (p.Cys612Ter)
c.1587T>A (p.Cys529Ter)
3g.133777144T>CCA435815942TFc.1968T>C (p.Cys656=)
c.699T>C
n.2962T>C
c.1836T>C (p.Cys612=)
c.1587T>C (p.Cys529=)
3g.133777144T>GCA354611305TFc.1968T>G (p.Cys656Trp)
c.699T>G
n.2962T>G
c.1836T>G (p.Cys612Trp)
c.1587T>G (p.Cys529Trp)
3g.133777145T>ACA354611310TFc.1969T>A (p.Leu657Met)
c.700T>A
n.2963T>A
c.1837T>A (p.Leu613Met)
c.1588T>A (p.Leu530Met)
3g.133777145T>CCA435815943TFc.1969T>C (p.Leu657=)
c.700T>C
n.2963T>C
c.1837T>C (p.Leu613=)
c.1588T>C (p.Leu530=)
3g.133777145T>GCA354611311TFc.1969T>G (p.Leu657Val)
c.700T>G
n.2963T>G
c.1837T>G (p.Leu613Val)
c.1588T>G (p.Leu530Val)
3g.133777146T>ACA354611313TFc.1970T>A (p.Leu657Ter)
c.701T>A
n.2964T>A
c.1838T>A (p.Leu613Ter)
c.1589T>A (p.Leu530Ter)
3g.133777146T>CCA354611315TFc.1970T>C (p.Leu657Ser)
c.701T>C
n.2964T>C
c.1838T>C (p.Leu613Ser)
c.1589T>C (p.Leu530Ser)
3g.133777146T>GCA354611317TFc.1970T>G (p.Leu657Trp)
c.701T>G
n.2964T>G
c.1838T>G (p.Leu613Trp)
c.1589T>G (p.Leu530Trp)
3g.133777147G>ACA435815944TFc.1971G>A (p.Leu657=)
c.702G>A
n.2965G>A
c.1839G>A (p.Leu613=)
c.1590G>A (p.Leu530=)
3g.133777147G>CCA354611320TFc.1971G>C (p.Leu657Phe)
c.702G>C
n.2965G>C
c.1839G>C (p.Leu613Phe)
c.1590G>C (p.Leu530Phe)
3g.133777147G>TCA354611322TFc.1971G>T (p.Leu657Phe)
c.702G>T
n.2965G>T
c.1839G>T (p.Leu613Phe)
c.1590G>T (p.Leu530Phe)
3g.133777148G>ACA354611325TFc.1972G>A (p.Ala658Thr)
c.703G>A
n.2966G>A
c.1840G>A (p.Ala614Thr)
c.1591G>A (p.Ala531Thr)
 gnomAD v4
3g.133777148G>CCA354611327TFc.1972G>C (p.Ala658Pro)
c.703G>C
n.2966G>C
c.1840G>C (p.Ala614Pro)
c.1591G>C (p.Ala531Pro)
3g.133777148G>TCA354611329TFc.1972G>T (p.Ala658Ser)
c.703G>T
n.2966G>T
c.1840G>T (p.Ala614Ser)
c.1591G>T (p.Ala531Ser)
3g.133777149C>ACA354611331TFc.1973C>A (p.Ala658Asp)
c.704C>A
n.2967C>A
c.1841C>A (p.Ala614Asp)
c.1592C>A (p.Ala531Asp)
3g.133777149C>GCA354611333TFc.1973C>G (p.Ala658Gly)
c.704C>G
n.2967C>G
c.1841C>G (p.Ala614Gly)
c.1592C>G (p.Ala531Gly)
3g.133777149C>TCA354611335TFc.1973C>T (p.Ala658Val)
c.704C>T
n.2967C>T
c.1841C>T (p.Ala614Val)
c.1592C>T (p.Ala531Val)
3g.133777150C>ACA435815945TFc.1974C>A (p.Ala658=)
c.705C>A
n.2968C>A
c.1842C>A (p.Ala614=)
c.1593C>A (p.Ala531=)
3g.133777150C=CA1403124917TFc.1974C= (p.Ala658=)
c.705C=
n.2968C=
c.1842C= (p.Ala614=)
c.1593C= (p.Ala531=)
3g.133777150C>GCA435815946TFc.1974C>G (p.Ala658=)
c.705C>G
n.2968C>G
c.1842C>G (p.Ala614=)
c.1593C>G (p.Ala531=)
3g.133777150C>TCA2625466TFc.1974C>T (p.Ala658=)
c.705C>T
n.2968C>T
c.1842C>T (p.Ala614=)
c.1593C>T (p.Ala531=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777151A>CCA354611341TFc.1975A>C (p.Lys659Gln)
c.706A>C
n.2969A>C
c.1843A>C (p.Lys615Gln)
c.1594A>C (p.Lys532Gln)
3g.133777151A>GCA354611339TFc.1975A>G (p.Lys659Glu)
c.706A>G
n.2969A>G
c.1843A>G (p.Lys615Glu)
c.1594A>G (p.Lys532Glu)
3g.133777151A>TCA354611343TFc.1975A>T (p.Lys659Ter)
c.706A>T
n.2969A>T
c.1843A>T (p.Lys615Ter)
c.1594A>T (p.Lys532Ter)
3g.133777152A>CCA354611345TFc.1976A>C (p.Lys659Thr)
c.707A>C
n.2970A>C
c.1844A>C (p.Lys615Thr)
c.1595A>C (p.Lys532Thr)
3g.133777152A>GCA354611346TFc.1976A>G (p.Lys659Arg)
c.707A>G
n.2970A>G
c.1844A>G (p.Lys615Arg)
c.1595A>G (p.Lys532Arg)
3g.133777152A>TCA354611347TFc.1976A>T (p.Lys659Ile)
c.707A>T
n.2970A>T
c.1844A>T (p.Lys615Ile)
c.1595A>T (p.Lys532Ile)
3g.133777153A>CCA354611348TFc.1977A>C (p.Lys659Asn)
c.708A>C
n.2971A>C
c.1845A>C (p.Lys615Asn)
c.1596A>C (p.Lys532Asn)
3g.133777153A>GCA435815947TFc.1977A>G (p.Lys659=)
c.708A>G
n.2971A>G
c.1845A>G (p.Lys615=)
c.1596A>G (p.Lys532=)
 gnomAD v4
3g.133777153A>TCA354611349TFc.1977A>T (p.Lys659Asn)
c.708A>T
n.2971A>T
c.1845A>T (p.Lys615Asn)
c.1596A>T (p.Lys532Asn)
3g.133777154C>ACA354611350TFc.1978C>A (p.Leu660Ile)
c.709C>A
n.2972C>A
c.1846C>A (p.Leu616Ile)
c.1597C>A (p.Leu533Ile)
 gnomAD v4
3g.133777154C=CA1403124922TFc.1978C= (p.Leu660=)
c.709C=
n.2972C=
c.1846C= (p.Leu616=)
c.1597C= (p.Leu533=)
3g.133777154C>GCA354611351TFc.1978C>G (p.Leu660Val)
c.709C>G
n.2972C>G
c.1846C>G (p.Leu616Val)
c.1597C>G (p.Leu533Val)
3g.133777154C>TCA354611352TFc.1978C>T (p.Leu660Phe)
c.709C>T
n.2972C>T
c.1846C>T (p.Leu616Phe)
c.1597C>T (p.Leu533Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133777155T>ACA354611353TFc.1979T>A (p.Leu660His)
c.710T>A
n.2973T>A
c.1847T>A (p.Leu616His)
c.1598T>A (p.Leu533His)
3g.133777155T>CCA354611354TFc.1979T>C (p.Leu660Pro)
c.710T>C
n.2973T>C
c.1847T>C (p.Leu616Pro)
c.1598T>C (p.Leu533Pro)
3g.133777155T>GCA354611355TFc.1979T>G (p.Leu660Arg)
c.710T>G
n.2973T>G
c.1847T>G (p.Leu616Arg)
c.1598T>G (p.Leu533Arg)
3g.133777156T>ACA435815948TFc.1980T>A (p.Leu660=)
c.711T>A
n.2974T>A
c.1848T>A (p.Leu616=)
c.1599T>A (p.Leu533=)
3g.133777156T>CCA435815949TFc.1980T>C (p.Leu660=)
c.711T>C
n.2974T>C
c.1848T>C (p.Leu616=)
c.1599T>C (p.Leu533=)
3g.133777156T>GCA435815950TFc.1980T>G (p.Leu660=)
c.711T>G
n.2974T>G
c.1848T>G (p.Leu616=)
c.1599T>G (p.Leu533=)
 dbSNP
3g.133777156T=CA1403124927TFc.1980T= (p.Leu660=)
c.711T=
n.2974T=
c.1848T= (p.Leu616=)
c.1599T= (p.Leu533=)
3g.133777157C>ACA354611357TFc.1981C>A (p.His661Asn)
c.712C>A
n.2975C>A
c.1849C>A (p.His617Asn)
c.1600C>A (p.His534Asn)
3g.133777157C=CA1403124933TFc.1981C= (p.His661=)
c.712C=
n.2975C=
c.1849C= (p.His617=)
c.1600C= (p.His534=)
3g.133777157C>GCA354611356TFc.1981C>G (p.His661Asp)
c.712C>G
n.2975C>G
c.1849C>G (p.His617Asp)
c.1600C>G (p.His534Asp)
3g.133777157C>TCA83694397TFc.1981C>T (p.His661Tyr)
c.712C>T
n.2975C>T
c.1849C>T (p.His617Tyr)
c.1600C>T (p.His534Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.133777158A=CA1403124939TFc.1982A= (p.His661=)
c.713A=
n.2976A=
c.1850A= (p.His617=)
c.1601A= (p.His534=)
3g.133777158A>CCA354611358TFc.1982A>C (p.His661Pro)
c.713A>C
n.2976A>C
c.1850A>C (p.His617Pro)
c.1601A>C (p.His534Pro)
3g.133777158A>GCA354611359TFc.1982A>G (p.His661Arg)
c.713A>G
n.2976A>G
c.1850A>G (p.His617Arg)
c.1601A>G (p.His534Arg)
 dbSNP gnomAD v4
3g.133777158A>TCA354611360TFc.1982A>T (p.His661Leu)
c.713A>T
n.2976A>T
c.1850A>T (p.His617Leu)
c.1601A>T (p.His534Leu)
3g.133777162_133777176delCA645516351TFc.1986_2000del (p.Asp662_Tyr666del)
c.717_731del
n.2980_2994del
c.1854_1868del (p.Asp618_Tyr622del)
c.1605_1619del (p.Asp535_Tyr539del)
 COSMIC
3g.133777159T>ACA354611361TFc.1983T>A (p.His661Gln)
c.714T>A
n.2977T>A
c.1851T>A (p.His617Gln)
c.1602T>A (p.His534Gln)
3g.133777159T>CCA435815951TFc.1983T>C (p.His661=)
c.714T>C
n.2977T>C
c.1851T>C (p.His617=)
c.1602T>C (p.His534=)
 gnomAD v4
3g.133777159T>GCA354611362TFc.1983T>G (p.His661Gln)
c.714T>G
n.2977T>G
c.1851T>G (p.His617Gln)
c.1602T>G (p.His534Gln)
3g.133777160G>ACA354611363TFc.1984G>A (p.Asp662Asn)
c.715G>A
n.2978G>A
c.1852G>A (p.Asp618Asn)
c.1603G>A (p.Asp535Asn)
3g.133777160G>CCA354611364TFc.1984G>C (p.Asp662His)
c.715G>C
n.2978G>C
c.1852G>C (p.Asp618His)
c.1603G>C (p.Asp535His)
 gnomAD v4
3g.133777160G>TCA354611365TFc.1984G>T (p.Asp662Tyr)
c.715G>T
n.2978G>T
c.1852G>T (p.Asp618Tyr)
c.1603G>T (p.Asp535Tyr)
3g.133777161A>CCA354611366TFc.1985A>C (p.Asp662Ala)
c.716A>C
n.2979A>C
c.1853A>C (p.Asp618Ala)
c.1604A>C (p.Asp535Ala)
3g.133777161A>GCA354611367TFc.1985A>G (p.Asp662Gly)
c.716A>G
n.2979A>G
c.1853A>G (p.Asp618Gly)
c.1604A>G (p.Asp535Gly)
3g.133777161A>TCA354611368TFc.1985A>T (p.Asp662Val)
c.716A>T
n.2979A>T
c.1853A>T (p.Asp618Val)
c.1604A>T (p.Asp535Val)
3g.133777162C>ACA354611369TFc.1986C>A (p.Asp662Glu)
c.717C>A
n.2980C>A
c.1854C>A (p.Asp618Glu)
c.1605C>A (p.Asp535Glu)
3g.133777162C>GCA354611370TFc.1986C>G (p.Asp662Glu)
c.717C>G
n.2980C>G
c.1854C>G (p.Asp618Glu)
c.1605C>G (p.Asp535Glu)
3g.133777162C>TCA435815952TFc.1986C>T (p.Asp662=)
c.717C>T
n.2980C>T
c.1854C>T (p.Asp618=)
c.1605C>T (p.Asp535=)
3g.133777163A=CA1403124941TFc.1987A= (p.Arg663=)
c.718A=
n.2981A=
c.1855A= (p.Arg619=)
c.1606A= (p.Arg536=)
3g.133777163A>CCA435815953TFc.1987A>C (p.Arg663=)
c.718A>C
n.2981A>C
c.1855A>C (p.Arg619=)
c.1606A>C (p.Arg536=)
3g.133777163A>GCA2625467TFc.1987A>G (p.Arg663Gly)
c.718A>G
n.2981A>G
c.1855A>G (p.Arg619Gly)
c.1606A>G (p.Arg536Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777163A>TCA354611371TFc.1987A>T (p.Arg663Ter)
c.718A>T
n.2981A>T
c.1855A>T (p.Arg619Ter)
c.1606A>T (p.Arg536Ter)
3g.133777164G>ACA354611372TFc.1988G>A (p.Arg663Lys)
c.719G>A
n.2982G>A
c.1856G>A (p.Arg619Lys)
c.1607G>A (p.Arg536Lys)
 COSMIC
3g.133777164G>CCA354611373TFc.1988G>C (p.Arg663Thr)
c.719G>C
n.2982G>C
c.1856G>C (p.Arg619Thr)
c.1607G>C (p.Arg536Thr)
3g.133777164G>TCA354611374TFc.1988G>T (p.Arg663Ile)
c.719G>T
n.2982G>T
c.1856G>T (p.Arg619Ile)
c.1607G>T (p.Arg536Ile)
3g.133777165A>CCA354611375TFc.1989A>C (p.Arg663Ser)
c.720A>C
n.2983A>C
c.1857A>C (p.Arg619Ser)
c.1608A>C (p.Arg536Ser)
3g.133777165A>GCA435815954TFc.1989A>G (p.Arg663=)
c.720A>G
n.2983A>G
c.1857A>G (p.Arg619=)
c.1608A>G (p.Arg536=)
3g.133777165A>TCA354611376TFc.1989A>T (p.Arg663Ser)
c.720A>T
n.2983A>T
c.1857A>T (p.Arg619Ser)
c.1608A>T (p.Arg536Ser)
3g.133777166A=CA1403124944TFc.1990A= (p.Asn664=)
c.721A=
n.2984A=
c.1858A= (p.Asn620=)
c.1609A= (p.Asn537=)
3g.133777166A>CCA354611377TFc.1990A>C (p.Asn664His)
c.721A>C
n.2984A>C
c.1858A>C (p.Asn620His)
c.1609A>C (p.Asn537His)
3g.133777166A>GCA354611378TFc.1990A>G (p.Asn664Asp)
c.721A>G
n.2984A>G
c.1858A>G (p.Asn620Asp)
c.1609A>G (p.Asn537Asp)
3g.133777166A>TCA354611379TFc.1990A>T (p.Asn664Tyr)
c.721A>T
n.2984A>T
c.1858A>T (p.Asn620Tyr)
c.1609A>T (p.Asn537Tyr)
 dbSNP gnomAD v4
3g.133777167A>CCA354611380TFc.1991A>C (p.Asn664Thr)
c.722A>C
n.2985A>C
c.1859A>C (p.Asn620Thr)
c.1610A>C (p.Asn537Thr)
3g.133777167A>GCA354611381TFc.1991A>G (p.Asn664Ser)
c.722A>G
n.2985A>G
c.1859A>G (p.Asn620Ser)
c.1610A>G (p.Asn537Ser)
3g.133777167A>TCA354611382TFc.1991A>T (p.Asn664Ile)
c.722A>T
n.2985A>T
c.1859A>T (p.Asn620Ile)
c.1610A>T (p.Asn537Ile)
3g.133777168C>ACA354611383TFc.1992C>A (p.Asn664Lys)
c.723C>A
n.2986C>A
c.1860C>A (p.Asn620Lys)
c.1611C>A (p.Asn537Lys)
3g.133777168C=CA1403124951TFc.1992C= (p.Asn664=)
c.723C=
n.2986C=
c.1860C= (p.Asn620=)
c.1611C= (p.Asn537=)
3g.133777168C>GCA83694409TFc.1992C>G (p.Asn664Lys)
c.723C>G
n.2986C>G
c.1860C>G (p.Asn620Lys)
c.1611C>G (p.Asn537Lys)
 dbSNP gnomAD v4
3g.133777168C>TCA435815955TFc.1992C>T (p.Asn664=)
c.723C>T
n.2986C>T
c.1860C>T (p.Asn620=)
c.1611C>T (p.Asn537=)
3g.133777169A>CCA354611384TFc.1993A>C (p.Thr665Pro)
c.724A>C
n.2987A>C
c.1861A>C (p.Thr621Pro)
c.1612A>C (p.Thr538Pro)
3g.133777169A>GCA354611386TFc.1993A>G (p.Thr665Ala)
c.724A>G
n.2987A>G
c.1861A>G (p.Thr621Ala)
c.1612A>G (p.Thr538Ala)
 gnomAD v4
3g.133777169A>TCA354611385TFc.1993A>T (p.Thr665Ser)
c.724A>T
n.2987A>T
c.1861A>T (p.Thr621Ser)
c.1612A>T (p.Thr538Ser)
3g.133777170C>ACA354611387TFc.1994C>A (p.Thr665Lys)
c.725C>A
n.2988C>A
c.1862C>A (p.Thr621Lys)
c.1613C>A (p.Thr538Lys)
3g.133777170C>GCA354611388TFc.1994C>G (p.Thr665Arg)
c.725C>G
n.2988C>G
c.1862C>G (p.Thr621Arg)
c.1613C>G (p.Thr538Arg)
3g.133777170C>TCA354611389TFc.1994C>T (p.Thr665Ile)
c.725C>T
n.2988C>T
c.1862C>T (p.Thr621Ile)
c.1613C>T (p.Thr538Ile)
3g.133777171A=CA1403124954TFc.1995A= (p.Thr665=)
c.726A=
n.2989A=
c.1863A= (p.Thr621=)
c.1614A= (p.Thr538=)
3g.133777171A>CCA435815956TFc.1995A>C (p.Thr665=)
c.726A>C
n.2989A>C
c.1863A>C (p.Thr621=)
c.1614A>C (p.Thr538=)
3g.133777171A>GCA435815957TFc.1995A>G (p.Thr665=)
c.726A>G
n.2989A>G
c.1863A>G (p.Thr621=)
c.1614A>G (p.Thr538=)
 dbSNP gnomAD v2 gnomAD v4
3g.133777171A>TCA435815958TFc.1995A>T (p.Thr665=)
c.726A>T
n.2989A>T
c.1863A>T (p.Thr621=)
c.1614A>T (p.Thr538=)
 gnomAD v4
3g.133777172T>ACA2625468TFc.1996T>A (p.Tyr666Asn)
c.727T>A
n.2990T>A
c.1864T>A (p.Tyr622Asn)
c.1615T>A (p.Tyr539Asn)
 dbSNP ExAC gnomAD v2
3g.133777172T>CCA354611390TFc.1996T>C (p.Tyr666His)
c.727T>C
n.2990T>C
c.1864T>C (p.Tyr622His)
c.1615T>C (p.Tyr539His)
 gnomAD v4
3g.133777172T>GCA354611391TFc.1996T>G (p.Tyr666Asp)
c.727T>G
n.2990T>G
c.1864T>G (p.Tyr622Asp)
c.1615T>G (p.Tyr539Asp)
3g.133777172T=CA1403124957TFc.1996T= (p.Tyr666=)
c.727T=
n.2990T=
c.1864T= (p.Tyr622=)
c.1615T= (p.Tyr539=)
3g.133777173A=CA1403124960TFc.1997A= (p.Tyr666=)
c.728A=
n.2991A=
c.1865A= (p.Tyr622=)
c.1616A= (p.Tyr539=)
3g.133777173A>CCA354611392TFc.1997A>C (p.Tyr666Ser)
c.728A>C
n.2991A>C
c.1865A>C (p.Tyr622Ser)
c.1616A>C (p.Tyr539Ser)
3g.133777173A>GCA354611393TFc.1997A>G (p.Tyr666Cys)
c.728A>G
n.2991A>G
c.1865A>G (p.Tyr622Cys)
c.1616A>G (p.Tyr539Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.133777173A>TCA354611394TFc.1997A>T (p.Tyr666Phe)
c.728A>T
n.2991A>T
c.1865A>T (p.Tyr622Phe)
c.1616A>T (p.Tyr539Phe)
3g.133777174T>ACA354611395TFc.1998T>A (p.Tyr666Ter)
c.729T>A
n.2992T>A
c.1866T>A (p.Tyr622Ter)
c.1617T>A (p.Tyr539Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.133777174T>CCA83694413TFc.1998T>C (p.Tyr666=)
c.729T>C
n.2992T>C
c.1866T>C (p.Tyr622=)
c.1617T>C (p.Tyr539=)
 dbSNP gnomAD v4
3g.133777174T>GCA354611396TFc.1998T>G (p.Tyr666Ter)
c.729T>G
n.2992T>G
c.1866T>G (p.Tyr622Ter)
c.1617T>G (p.Tyr539Ter)
3g.133777174T=CA1403124967TFc.1998T= (p.Tyr666=)
c.729T=
n.2992T=
c.1866T= (p.Tyr622=)
c.1617T= (p.Tyr539=)
3g.133777175G>ACA354611398TFc.1999G>A (p.Glu667Lys)
c.730G>A
n.2993G>A
c.1867G>A (p.Glu623Lys)
c.1618G>A (p.Glu540Lys)
3g.133777175G>CCA354611399TFc.1999G>C (p.Glu667Gln)
c.730G>C
n.2993G>C
c.1867G>C (p.Glu623Gln)
c.1618G>C (p.Glu540Gln)
3g.133777175G>TCA354611397TFc.1999G>T (p.Glu667Ter)
c.730G>T
n.2993G>T
c.1867G>T (p.Glu623Ter)
c.1618G>T (p.Glu540Ter)
3g.133777176A>CCA354611401TFc.2000A>C (p.Glu667Ala)
c.731A>C
n.2994A>C
c.1868A>C (p.Glu623Ala)
c.1619A>C (p.Glu540Ala)
3g.133777176A>GCA354611400TFc.2000A>G (p.Glu667Gly)
c.731A>G
n.2994A>G
c.1868A>G (p.Glu623Gly)
c.1619A>G (p.Glu540Gly)
3g.133777176A>TCA354611402TFc.2000A>T (p.Glu667Val)
c.731A>T
n.2994A>T
c.1868A>T (p.Glu623Val)
c.1619A>T (p.Glu540Val)
3g.133777177A=CA1403124971TFc.2001A= (p.Glu667=)
c.732A=
n.2995A=
c.1869A= (p.Glu623=)
c.1620A= (p.Glu540=)
3g.133777177A>CCA354611403TFc.2001A>C (p.Glu667Asp)
c.732A>C
n.2995A>C
c.1869A>C (p.Glu623Asp)
c.1620A>C (p.Glu540Asp)
 gnomAD v4
3g.133777177A>GCA435815959TFc.2001A>G (p.Glu667=)
c.732A>G
n.2995A>G
c.1869A>G (p.Glu623=)
c.1620A>G (p.Glu540=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.133777177A>TCA354611404TFc.2001A>T (p.Glu667Asp)
c.732A>T
n.2995A>T
c.1869A>T (p.Glu623Asp)
c.1620A>T (p.Glu540Asp)
3g.133777178A>CCA354611405TFc.2002A>C (p.Lys668Gln)
c.733A>C
n.2996A>C
c.1870A>C (p.Lys624Gln)
c.1621A>C (p.Lys541Gln)
3g.133777178A>GCA354611406TFc.2002A>G (p.Lys668Glu)
c.733A>G
n.2996A>G
c.1870A>G (p.Lys624Glu)
c.1621A>G (p.Lys541Glu)
3g.133777178A>TCA354611407TFc.2002A>T (p.Lys668Ter)
c.733A>T
n.2996A>T
c.1870A>T (p.Lys624Ter)
c.1621A>T (p.Lys541Ter)
3g.133777179A>CCA354611408TFc.2003A>C (p.Lys668Thr)
c.734A>C
n.2997A>C
c.1871A>C (p.Lys624Thr)
c.1622A>C (p.Lys541Thr)
3g.133777179A>GCA354611409TFc.2003A>G (p.Lys668Arg)
c.734A>G
n.2997A>G
c.1871A>G (p.Lys624Arg)
c.1622A>G (p.Lys541Arg)
3g.133777179A>TCA354611410TFc.2003A>T (p.Lys668Ile)
c.734A>T
n.2997A>T
c.1871A>T (p.Lys624Ile)
c.1622A>T (p.Lys541Ile)
3g.133777180A>CCA354611411TFc.2004A>C (p.Lys668Asn)
c.735A>C
n.2998A>C
c.1872A>C (p.Lys624Asn)
c.1623A>C (p.Lys541Asn)
3g.133777180A>GCA435815960TFc.2004A>G (p.Lys668=)
c.735A>G
n.2998A>G
c.1872A>G (p.Lys624=)
c.1623A>G (p.Lys541=)
3g.133777180A>TCA354611412TFc.2004A>T (p.Lys668Asn)
c.735A>T
n.2998A>T
c.1872A>T (p.Lys624Asn)
c.1623A>T (p.Lys541Asn)
3g.133777181T>ACA354611413TFc.2005T>A (p.Tyr669Asn)
c.736T>A
n.2999T>A
c.1873T>A (p.Tyr625Asn)
c.1624T>A (p.Tyr542Asn)
3g.133777181T>CCA354611414TFc.2005T>C (p.Tyr669His)
c.736T>C
n.2999T>C
c.1873T>C (p.Tyr625His)
c.1624T>C (p.Tyr542His)
3g.133777181T>GCA354611415TFc.2005T>G (p.Tyr669Asp)
c.736T>G
n.2999T>G
c.1873T>G (p.Tyr625Asp)
c.1624T>G (p.Tyr542Asp)
3g.133777182A>CCA354611418TFc.2006A>C (p.Tyr669Ser)
c.737A>C
n.3000A>C
c.1874A>C (p.Tyr625Ser)
c.1625A>C (p.Tyr542Ser)
3g.133777182A>GCA354611416TFc.2006A>G (p.Tyr669Cys)
c.737A>G
n.3000A>G
c.1874A>G (p.Tyr625Cys)
c.1625A>G (p.Tyr542Cys)
3g.133777182A>TCA354611417TFc.2006A>T (p.Tyr669Phe)
c.737A>T
n.3000A>T
c.1874A>T (p.Tyr625Phe)
c.1625A>T (p.Tyr542Phe)
3g.133777183C>ACA354611419TFc.2007C>A (p.Tyr669Ter)
c.738C>A
n.3001C>A
c.1875C>A (p.Tyr625Ter)
c.1626C>A (p.Tyr542Ter)
3g.133777183C=CA1403124976TFc.2007C= (p.Tyr669=)
c.738C=
n.3001C=
c.1875C= (p.Tyr625=)
c.1626C= (p.Tyr542=)
3g.133777183C>GCA354611420TFc.2007C>G (p.Tyr669Ter)
c.738C>G
n.3001C>G
c.1875C>G (p.Tyr625Ter)
c.1626C>G (p.Tyr542Ter)
 gnomAD v4
3g.133777183C>TCA2625469TFc.2007C>T (p.Tyr669=)
c.738C>T
n.3001C>T
c.1875C>T (p.Tyr625=)
c.1626C>T (p.Tyr542=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777184T>ACA354611421TFc.2008T>A (p.Leu670Ile)
c.739T>A
n.3002T>A
c.1876T>A (p.Leu626Ile)
c.1627T>A (p.Leu543Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.133777184T>CCA435815961TFc.2008T>C (p.Leu670=)
c.739T>C
n.3002T>C
c.1876T>C (p.Leu626=)
c.1627T>C (p.Leu543=)
3g.133777184T>GCA354611422TFc.2008T>G (p.Leu670Val)
c.739T>G
n.3002T>G
c.1876T>G (p.Leu626Val)
c.1627T>G (p.Leu543Val)
3g.133777184T=CA1403124981TFc.2008T= (p.Leu670=)
c.739T=
n.3002T=
c.1876T= (p.Leu626=)
c.1627T= (p.Leu543=)
3g.133777185T>ACA354611423TFc.2009T>A (p.Leu670Ter)
c.740T>A
n.3003T>A
c.1877T>A (p.Leu626Ter)
c.1628T>A (p.Leu543Ter)
3g.133777185T>CCA354611424TFc.2009T>C (p.Leu670Ser)
c.740T>C
n.3003T>C
c.1877T>C (p.Leu626Ser)
c.1628T>C (p.Leu543Ser)
3g.133777185T>GCA354611425TFc.2009T>G (p.Leu670Ter)
c.740T>G
n.3003T>G
c.1877T>G (p.Leu626Ter)
c.1628T>G (p.Leu543Ter)
3g.133777186A=CA1403124989TFc.2010A= (p.Leu670=)
c.741A=
n.3004A=
c.1878A= (p.Leu626=)
c.1629A= (p.Leu543=)
3g.133777186A>CCA354611426TFc.2010A>C (p.Leu670Phe)
c.741A>C
n.3004A>C
c.1878A>C (p.Leu626Phe)
c.1629A>C (p.Leu543Phe)
3g.133777186A>GCA83694431TFc.2010A>G (p.Leu670=)
c.741A>G
n.3004A>G
c.1878A>G (p.Leu626=)
c.1629A>G (p.Leu543=)
 ClinVar dbSNP gnomAD v4
3g.133777186A>TCA354611427TFc.2010A>T (p.Leu670Phe)
c.741A>T
n.3004A>T
c.1878A>T (p.Leu626Phe)
c.1629A>T (p.Leu543Phe)
 gnomAD v4
3g.133777187G>ACA354611430TFc.2011G>A (p.Gly671Arg)
c.742G>A
n.3005G>A
c.1879G>A (p.Gly627Arg)
c.1630G>A (p.Gly544Arg)
3g.133777187G>CCA354611429TFc.2011G>C (p.Gly671Arg)
c.742G>C
n.3005G>C
c.1879G>C (p.Gly627Arg)
c.1630G>C (p.Gly544Arg)
3g.133777187G>TCA354611428TFc.2011G>T (p.Gly671Ter)
c.742G>T
n.3005G>T
c.1879G>T (p.Gly627Ter)
c.1630G>T (p.Gly544Ter)
3g.133777188G>ACA122561TFc.2012G>A (p.Gly671Glu)
c.743G>A
n.3006G>A
c.1880G>A (p.Gly627Glu)
c.1631G>A (p.Gly544Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777188G>CCA354611431TFc.2012G>C (p.Gly671Ala)
c.743G>C
n.3006G>C
c.1880G>C (p.Gly627Ala)
c.1631G>C (p.Gly544Ala)
3g.133777188G=CA1403124997TFc.2012G= (p.Gly671=)
c.743G=
n.3006G=
c.1880G= (p.Gly627=)
c.1631G= (p.Gly544=)
3g.133777188G>TCA2625470TFc.2012G>T (p.Gly671Val)
c.743G>T
n.3006G>T
c.1880G>T (p.Gly627Val)
c.1631G>T (p.Gly544Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777189A>CCA435815962TFc.2013A>C (p.Gly671=)
c.744A>C
n.3007A>C
c.1881A>C (p.Gly627=)
c.1632A>C (p.Gly544=)
3g.133777189A>GCA435815963TFc.2013A>G (p.Gly671=)
c.744A>G
n.3007A>G
c.1881A>G (p.Gly627=)
c.1632A>G (p.Gly544=)
3g.133777189A>TCA435815964TFc.2013A>T (p.Gly671=)
c.744A>T
n.3007A>T
c.1881A>T (p.Gly627=)
c.1632A>T (p.Gly544=)
3g.133777190G>ACA354611432TFc.2014G>A (p.Glu672Lys)
c.745G>A
n.3008G>A
c.1882G>A (p.Glu628Lys)
c.1633G>A (p.Glu545Lys)
 gnomAD v4
3g.133777190G>CCA354611433TFc.2014G>C (p.Glu672Gln)
c.745G>C
n.3008G>C
c.1882G>C (p.Glu628Gln)
c.1633G>C (p.Glu545Gln)
3g.133777190G>TCA354611434TFc.2014G>T (p.Glu672Ter)
c.745G>T
n.3008G>T
c.1882G>T (p.Glu628Ter)
c.1633G>T (p.Glu545Ter)
3g.133777191A>CCA354611437TFc.2015A>C (p.Glu672Ala)
c.746A>C
n.3009A>C
c.1883A>C (p.Glu628Ala)
c.1634A>C (p.Glu545Ala)
3g.133777191A>GCA354611435TFc.2015A>G (p.Glu672Gly)
c.746A>G
n.3009A>G
c.1883A>G (p.Glu628Gly)
c.1634A>G (p.Glu545Gly)
3g.133777191A>TCA354611436TFc.2015A>T (p.Glu672Val)
c.746A>T
n.3009A>T
c.1883A>T (p.Glu628Val)
c.1634A>T (p.Glu545Val)
3g.133777192A>CCA354611438TFc.2016A>C (p.Glu672Asp)
c.747A>C
n.3010A>C
c.1884A>C (p.Glu628Asp)
c.1635A>C (p.Glu545Asp)
3g.133777192A>GCA435815965TFc.2016A>G (p.Glu672=)
c.747A>G
n.3010A>G
c.1884A>G (p.Glu628=)
c.1635A>G (p.Glu545=)
 gnomAD v4
3g.133777192A>TCA354611439TFc.2016A>T (p.Glu672Asp)
c.747A>T
n.3010A>T
c.1884A>T (p.Glu628Asp)
c.1635A>T (p.Glu545Asp)
3g.133777193G>ACA354611440TFc.2017G>A (p.Glu673Lys)
c.748G>A
n.3011G>A
c.1885G>A (p.Glu629Lys)
c.1636G>A (p.Glu546Lys)
3g.133777193G>CCA354611441TFc.2017G>C (p.Glu673Gln)
c.748G>C
n.3011G>C
c.1885G>C (p.Glu629Gln)
c.1636G>C (p.Glu546Gln)
3g.133777193G>TCA354611442TFc.2017G>T (p.Glu673Ter)
c.748G>T
n.3011G>T
c.1885G>T (p.Glu629Ter)
c.1636G>T (p.Glu546Ter)
3g.133777194A>CCA354611443TFc.2018A>C (p.Glu673Ala)
c.749A>C
n.3012A>C
c.1886A>C (p.Glu629Ala)
c.1637A>C (p.Glu546Ala)
3g.133777194A>GCA354611445TFc.2018A>G (p.Glu673Gly)
c.749A>G
n.3012A>G
c.1886A>G (p.Glu629Gly)
c.1637A>G (p.Glu546Gly)
3g.133777194A>TCA354611444TFc.2018A>T (p.Glu673Val)
c.749A>T
n.3012A>T
c.1886A>T (p.Glu629Val)
c.1637A>T (p.Glu546Val)
3g.133777195A>CCA354611446TFc.2019A>C (p.Glu673Asp)
c.750A>C
n.3013A>C
c.1887A>C (p.Glu629Asp)
c.1638A>C (p.Glu546Asp)
3g.133777195A>GCA435815966TFc.2019A>G (p.Glu673=)
c.750A>G
n.3013A>G
c.1887A>G (p.Glu629=)
c.1638A>G (p.Glu546=)
3g.133777195A>TCA354611447TFc.2019A>T (p.Glu673Asp)
c.750A>T
n.3013A>T
c.1887A>T (p.Glu629Asp)
c.1638A>T (p.Glu546Asp)
3g.133777197_133777198delCA2667772270TFc.2021_2022del (p.Tyr674CysfsTer6)
c.752_753del
n.3015_3016del
c.1889_1890del (p.Tyr630CysfsTer6)
c.1640_1641del (p.Tyr547CysfsTer6)
 gnomAD v4
3g.133777196T>ACA354611448TFc.2020T>A (p.Tyr674Asn)
c.751T>A
n.3014T>A
c.1888T>A (p.Tyr630Asn)
c.1639T>A (p.Tyr547Asn)
3g.133777196T>CCA354611449TFc.2020T>C (p.Tyr674His)
c.751T>C
n.3014T>C
c.1888T>C (p.Tyr630His)
c.1639T>C (p.Tyr547His)
3g.133777196T>GCA354611450TFc.2020T>G (p.Tyr674Asp)
c.751T>G
n.3014T>G
c.1888T>G (p.Tyr630Asp)
c.1639T>G (p.Tyr547Asp)
3g.133777197A>CCA354611451TFc.2021A>C (p.Tyr674Ser)
c.752A>C
n.3015A>C
c.1889A>C (p.Tyr630Ser)
c.1640A>C (p.Tyr547Ser)
3g.133777197A>GCA354611452TFc.2021A>G (p.Tyr674Cys)
c.752A>G
n.3015A>G
c.1889A>G (p.Tyr630Cys)
c.1640A>G (p.Tyr547Cys)
3g.133777197A>TCA354611453TFc.2021A>T (p.Tyr674Phe)
c.752A>T
n.3015A>T
c.1889A>T (p.Tyr630Phe)
c.1640A>T (p.Tyr547Phe)
3g.133777198T>ACA354611454TFc.2022T>A (p.Tyr674Ter)
c.753T>A
n.3016T>A
c.1890T>A (p.Tyr630Ter)
c.1641T>A (p.Tyr547Ter)
3g.133777198T>CCA2625471TFc.2022T>C (p.Tyr674=)
c.753T>C
n.3016T>C
c.1890T>C (p.Tyr630=)
c.1641T>C (p.Tyr547=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777198T>GCA354611455TFc.2022T>G (p.Tyr674Ter)
c.753T>G
n.3016T>G
c.1890T>G (p.Tyr630Ter)
c.1641T>G (p.Tyr547Ter)
 gnomAD v4
3g.133777198T=CA1403125008TFc.2022T= (p.Tyr674=)
c.753T=
n.3016T=
c.1890T= (p.Tyr630=)
c.1641T= (p.Tyr547=)
3g.133777199G>ACA83694494TFc.2023G>A (p.Val675Ile)
c.754G>A
n.3017G>A
c.1891G>A (p.Val631Ile)
c.1642G>A (p.Val548Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133777199G>CCA354611457TFc.2023G>C (p.Val675Leu)
c.754G>C
n.3017G>C
c.1891G>C (p.Val631Leu)
c.1642G>C (p.Val548Leu)
3g.133777199G=CA1403125013TFc.2023G= (p.Val675=)
c.754G=
n.3017G=
c.1891G= (p.Val631=)
c.1642G= (p.Val548=)
3g.133777199G>TCA354611456TFc.2023G>T (p.Val675Phe)
c.754G>T
n.3017G>T
c.1891G>T (p.Val631Phe)
c.1642G>T (p.Val548Phe)
3g.133777200T>ACA354611458TFc.2024T>A (p.Val675Asp)
c.755T>A
n.3018T>A
c.1892T>A (p.Val631Asp)
c.1643T>A (p.Val548Asp)
3g.133777200T>CCA354611460TFc.2024T>C (p.Val675Ala)
c.755T>C
n.3018T>C
c.1892T>C (p.Val631Ala)
c.1643T>C (p.Val548Ala)
3g.133777200T>GCA354611459TFc.2024T>G (p.Val675Gly)
c.755T>G
n.3018T>G
c.1892T>G (p.Val631Gly)
c.1643T>G (p.Val548Gly)
3g.133777201C>ACA435815967TFc.2025C>A (p.Val675=)
c.756C>A
n.3019C>A
c.1893C>A (p.Val631=)
c.1644C>A (p.Val548=)
3g.133777201C>GCA435815968TFc.2025C>G (p.Val675=)
c.756C>G
n.3019C>G
c.1893C>G (p.Val631=)
c.1644C>G (p.Val548=)
 gnomAD v4
3g.133777201C>TCA435815969TFc.2025C>T (p.Val675=)
c.756C>T
n.3019C>T
c.1893C>T (p.Val631=)
c.1644C>T (p.Val548=)
 gnomAD v4
3g.133777202A>CCA354611461TFc.2026A>C (p.Lys676Gln)
c.757A>C
n.3020A>C
c.1894A>C (p.Lys632Gln)
c.1645A>C (p.Lys549Gln)
3g.133777202A>GCA354611462TFc.2026A>G (p.Lys676Glu)
c.757A>G
n.3020A>G
c.1894A>G (p.Lys632Glu)
c.1645A>G (p.Lys549Glu)
3g.133777202A>TCA354611463TFc.2026A>T (p.Lys676Ter)
c.757A>T
n.3020A>T
c.1894A>T (p.Lys632Ter)
c.1645A>T (p.Lys549Ter)
3g.133777203A>CCA354611464TFc.2027A>C (p.Lys676Thr)
c.758A>C
n.3021A>C
c.1895A>C (p.Lys632Thr)
c.1646A>C (p.Lys549Thr)
3g.133777203A>GCA354611465TFc.2027A>G (p.Lys676Arg)
c.758A>G
n.3021A>G
c.1895A>G (p.Lys632Arg)
c.1646A>G (p.Lys549Arg)
3g.133777203A>TCA354611466TFc.2027A>T (p.Lys676Met)
c.758A>T
n.3021A>T
c.1895A>T (p.Lys632Met)
c.1646A>T (p.Lys549Met)
3g.133777204G>ACA435815970TFc.2028G>A (p.Lys676=)
c.759G>A
n.3022G>A
c.1896G>A (p.Lys632=)
c.1647G>A (p.Lys549=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133777204G>CCA354611467TFc.2028G>C (p.Lys676Asn)
c.759G>C
n.3022G>C
c.1896G>C (p.Lys632Asn)
c.1647G>C (p.Lys549Asn)
3g.133777204G=CA1403125018TFc.2028G= (p.Lys676=)
c.759G=
n.3022G=
c.1896G= (p.Lys632=)
c.1647G= (p.Lys549=)
3g.133777204G>TCA354611468TFc.2028G>T (p.Lys676Asn)
c.759G>T
n.3022G>T
c.1896G>T (p.Lys632Asn)
c.1647G>T (p.Lys549Asn)
3g.133777205G>ACA83694505TFc.2029G>A (p.Ala677Thr)
c.760G>A
n.3023G>A
c.1897G>A (p.Ala633Thr)
c.1648G>A (p.Ala550Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.133777205G>CCA2625472TFc.2029G>C (p.Ala677Pro)
c.760G>C
n.3023G>C
c.1897G>C (p.Ala633Pro)
c.1648G>C (p.Ala550Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777205G=CA1403125022TFc.2029G= (p.Ala677=)
c.760G=
n.3023G=
c.1897G= (p.Ala633=)
c.1648G= (p.Ala550=)
3g.133777205G>TCA354611469TFc.2029G>T (p.Ala677Ser)
c.760G>T
n.3023G>T
c.1897G>T (p.Ala633Ser)
c.1648G>T (p.Ala550Ser)
3g.133777206C>ACA354611472TFc.2030C>A (p.Ala677Asp)
c.761C>A
n.3024C>A
c.1898C>A (p.Ala633Asp)
c.1649C>A (p.Ala550Asp)
3g.133777206C>GCA354611471TFc.2030C>G (p.Ala677Gly)
c.761C>G
n.3024C>G
c.1898C>G (p.Ala633Gly)
c.1649C>G (p.Ala550Gly)
3g.133777206C>TCA354611470TFc.2030C>T (p.Ala677Val)
c.761C>T
n.3024C>T
c.1898C>T (p.Ala633Val)
c.1649C>T (p.Ala550Val)
3g.133777207T>ACA435815971TFc.2031T>A (p.Ala677=)
c.762T>A
n.3025T>A
c.1899T>A (p.Ala633=)
c.1650T>A (p.Ala550=)
3g.133777207T>CCA435815972TFc.2031T>C (p.Ala677=)
c.762T>C
n.3025T>C
c.1899T>C (p.Ala633=)
c.1650T>C (p.Ala550=)
 gnomAD v4
3g.133777207T>GCA435815973TFc.2031T>G (p.Ala677=)
c.762T>G
n.3025T>G
c.1899T>G (p.Ala633=)
c.1650T>G (p.Ala550=)
3g.133777208G>ACA354611473TFc.2032G>A (p.Val678Ile)
c.763G>A
n.3026G>A
c.1900G>A (p.Val634Ile)
c.1651G>A (p.Val551Ile)
3g.133777208G>CCA354611474TFc.2032G>C (p.Val678Leu)
c.763G>C
n.3026G>C
c.1900G>C (p.Val634Leu)
c.1651G>C (p.Val551Leu)
3g.133777208G>TCA354611475TFc.2032G>T (p.Val678Phe)
c.763G>T
n.3026G>T
c.1900G>T (p.Val634Phe)
c.1651G>T (p.Val551Phe)
3g.133777209T>ACA354611476TFc.2033T>A (p.Val678Asp)
c.764T>A
n.3027T>A
c.1901T>A (p.Val634Asp)
c.1652T>A (p.Val551Asp)
3g.133777209T>CCA354611477TFc.2033T>C (p.Val678Ala)
c.764T>C
n.3027T>C
c.1901T>C (p.Val634Ala)
c.1652T>C (p.Val551Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.133777209T>GCA354611478TFc.2033T>G (p.Val678Gly)
c.764T>G
n.3027T>G
c.1901T>G (p.Val634Gly)
c.1652T>G (p.Val551Gly)
3g.133777209T=CA1403125025TFc.2033T= (p.Val678=)
c.764T=
n.3027T=
c.1901T= (p.Val634=)
c.1652T= (p.Val551=)
3g.133777210T>ACA435815974TFc.2034T>A (p.Val678=)
c.765T>A
n.3028T>A
c.1902T>A (p.Val634=)
c.1653T>A (p.Val551=)
3g.133777210T>CCA435815976TFc.2034T>C (p.Val678=)
c.765T>C
n.3028T>C
c.1902T>C (p.Val634=)
c.1653T>C (p.Val551=)
3g.133777210T>GCA435815975TFc.2034T>G (p.Val678=)
c.765T>G
n.3028T>G
c.1902T>G (p.Val634=)
c.1653T>G (p.Val551=)
3g.133777210_133777211delCA2667772271TFc.2034_2035del (p.Gly679Ter)
c.765_766del
n.3028_3029del
c.1902_1903del (p.Gly635Ter)
c.1653_1654del (p.Gly552Ter)
 gnomAD v4
3g.133777211G>ACA354611479TFc.2035G>A (p.Gly679Ser)
c.766G>A
n.3029G>A
c.1903G>A (p.Gly635Ser)
c.1654G>A (p.Gly552Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.133777211G>CCA354611480TFc.2035G>C (p.Gly679Arg)
c.766G>C
n.3029G>C
c.1903G>C (p.Gly635Arg)
c.1654G>C (p.Gly552Arg)
3g.133777211G=CA1403125030TFc.2035G= (p.Gly679=)
c.766G=
n.3029G=
c.1903G= (p.Gly635=)
c.1654G= (p.Gly552=)
3g.133777211G>TCA354611481TFc.2035G>T (p.Gly679Cys)
c.766G>T
n.3029G>T
c.1903G>T (p.Gly635Cys)
c.1654G>T (p.Gly552Cys)
3g.133777212G>ACA354611482TFc.2036G>A (p.Gly679Asp)
c.767G>A
n.3030G>A
c.1904G>A (p.Gly635Asp)
c.1655G>A (p.Gly552Asp)
3g.133777212G>CCA354611483TFc.2036G>C (p.Gly679Ala)
c.767G>C
n.3030G>C
c.1904G>C (p.Gly635Ala)
c.1655G>C (p.Gly552Ala)
3g.133777212G>TCA354611484TFc.2036G>T (p.Gly679Val)
c.767G>T
n.3030G>T
c.1904G>T (p.Gly635Val)
c.1655G>T (p.Gly552Val)
3g.133777213T>ACA435815977TFc.2037T>A (p.Gly679=)
c.768T>A
n.3031T>A
c.1905T>A (p.Gly635=)
c.1656T>A (p.Gly552=)
3g.133777213T>CCA435815978TFc.2037T>C (p.Gly679=)
c.768T>C
n.3031T>C
c.1905T>C (p.Gly635=)
c.1656T>C (p.Gly552=)
3g.133777213T>GCA435815979TFc.2037T>G (p.Gly679=)
c.768T>G
n.3031T>G
c.1905T>G (p.Gly635=)
c.1656T>G (p.Gly552=)
3g.133777214A>CCA354611487TFc.2038A>C (p.Asn680His)
c.769A>C
n.3032A>C
c.1906A>C (p.Asn636His)
c.1657A>C (p.Asn553His)
3g.133777214A>GCA354611486TFc.2038A>G (p.Asn680Asp)
c.769A>G
n.3032A>G
c.1906A>G (p.Asn636Asp)
c.1657A>G (p.Asn553Asp)
3g.133777214A>TCA354611485TFc.2038A>T (p.Asn680Tyr)
c.769A>T
n.3032A>T
c.1906A>T (p.Asn636Tyr)
c.1657A>T (p.Asn553Tyr)
3g.133777215A>CCA354611488TFc.2039A>C (p.Asn680Thr)
c.770A>C
n.3033A>C
c.1907A>C (p.Asn636Thr)
c.1658A>C (p.Asn553Thr)
3g.133777215A>GCA354611489TFc.2039A>G (p.Asn680Ser)
c.770A>G
n.3033A>G
c.1907A>G (p.Asn636Ser)
c.1658A>G (p.Asn553Ser)
3g.133777215A>TCA354611490TFc.2039A>T (p.Asn680Ile)
c.770A>T
n.3033A>T
c.1907A>T (p.Asn636Ile)
c.1658A>T (p.Asn553Ile)
3g.133777216C>ACA354611491TFc.2040C>A (p.Asn680Lys)
c.771C>A
n.3034C>A
c.1908C>A (p.Asn636Lys)
c.1659C>A (p.Asn553Lys)
3g.133777216C>GCA354611492TFc.2040C>G (p.Asn680Lys)
c.771C>G
n.3034C>G
c.1908C>G (p.Asn636Lys)
c.1659C>G (p.Asn553Lys)
3g.133777216C>TCA435815980TFc.2040C>T (p.Asn680=)
c.771C>T
n.3034C>T
c.1908C>T (p.Asn636=)
c.1659C>T (p.Asn553=)
 gnomAD v4
3g.133777217C>ACA354611493TFc.2041C>A (p.Leu681Met)
c.772C>A
n.3035C>A
c.1909C>A (p.Leu637Met)
c.1660C>A (p.Leu554Met)
3g.133777217C>GCA354611494TFc.2041C>G (p.Leu681Val)
c.772C>G
n.3035C>G
c.1909C>G (p.Leu637Val)
c.1660C>G (p.Leu554Val)
3g.133777217C>TCA435815981TFc.2041C>T (p.Leu681=)
c.772C>T
n.3035C>T
c.1909C>T (p.Leu637=)
c.1660C>T (p.Leu554=)
 gnomAD v4
3g.133777218T>ACA354611495TFc.2042T>A (p.Leu681Gln)
c.773T>A
n.3036T>A
c.1910T>A (p.Leu637Gln)
c.1661T>A (p.Leu554Gln)
3g.133777218T>CCA354611496TFc.2042T>C (p.Leu681Pro)
c.773T>C
n.3036T>C
c.1910T>C (p.Leu637Pro)
c.1661T>C (p.Leu554Pro)
 dbSNP gnomAD v4
3g.133777218T>GCA354611497TFc.2042T>G (p.Leu681Arg)
c.773T>G
n.3036T>G
c.1910T>G (p.Leu637Arg)
c.1661T>G (p.Leu554Arg)
3g.133777218T=CA1403125033TFc.2042T= (p.Leu681=)
c.773T=
n.3036T=
c.1910T= (p.Leu637=)
c.1661T= (p.Leu554=)
3g.133777219G>ACA435815982TFc.2043G>A (p.Leu681=)
c.774G>A
n.3037G>A
c.1911G>A (p.Leu637=)
c.1662G>A (p.Leu554=)
 dbSNP gnomAD v2 gnomAD v4
3g.133777219G>CCA435815983TFc.2043G>C (p.Leu681=)
c.774G>C
n.3037G>C
c.1911G>C (p.Leu637=)
c.1662G>C (p.Leu554=)
3g.133777219G=CA1403125035TFc.2043G= (p.Leu681=)
c.774G=
n.3037G=
c.1911G= (p.Leu637=)
c.1662G= (p.Leu554=)
3g.133777219G>TCA435815984TFc.2043G>T (p.Leu681=)
c.774G>T
n.3037G>T
c.1911G>T (p.Leu637=)
c.1662G>T (p.Leu554=)
3g.133777220A>CCA435815985TFc.2044A>C (p.Arg682=)
c.775A>C
n.3038A>C
c.1912A>C (p.Arg638=)
c.1663A>C (p.Arg555=)
3g.133777220A>GCA354611498TFc.2044A>G (p.Arg682Gly)
c.775A>G
n.3038A>G
c.1912A>G (p.Arg638Gly)
c.1663A>G (p.Arg555Gly)
3g.133777220A>TCA354611499TFc.2044A>T (p.Arg682Ter)
c.775A>T
n.3038A>T
c.1912A>T (p.Arg638Ter)
c.1663A>T (p.Arg555Ter)
3g.133777221G>ACA354611501TFc.2045G>A (p.Arg682Lys)
c.776G>A
n.3039G>A
c.1913G>A (p.Arg638Lys)
c.1664G>A (p.Arg555Lys)
 gnomAD v4
3g.133777221G>CCA2625473TFc.2045G>C (p.Arg682Thr)
c.776G>C
n.3039G>C
c.1913G>C (p.Arg638Thr)
c.1664G>C (p.Arg555Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777221G=CA1403125038TFc.2045G= (p.Arg682=)
c.776G=
n.3039G=
c.1913G= (p.Arg638=)
c.1664G= (p.Arg555=)
3g.133777221G>TCA354611500TFc.2045G>T (p.Arg682Ile)
c.776G>T
n.3039G>T
c.1913G>T (p.Arg638Ile)
c.1664G>T (p.Arg555Ile)

Number of alleles fetched