Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133777046C=CA1403124682TFc.1873-3C= (n.1873-3C=)
c.604-3C=
n.2867-3C=
c.1741-3C= (n.1741-3C=)
c.1492-3C= (n.1492-3C=)
3g.133777046C>TCA83694200TFc.1873-3C>T (n.1873-3C>T)
c.604-3C>T
n.2867-3C>T
c.1741-3C>T (n.1741-3C>T)
c.1492-3C>T (n.1492-3C>T)
 dbSNP gnomAD v4
3g.133777047A>CCA354610810TFc.1873-2A>C (n.1873-2A>C)
c.604-2A>C
n.2867-2A>C
c.1741-2A>C (n.1741-2A>C)
c.1492-2A>C (n.1492-2A>C)
3g.133777047A>GCA354610812TFc.1873-2A>G (n.1873-2A>G)
c.604-2A>G
n.2867-2A>G
c.1741-2A>G (n.1741-2A>G)
c.1492-2A>G (n.1492-2A>G)
3g.133777047A>TCA354610807TFc.1873-2A>T (n.1873-2A>T)
c.604-2A>T
n.2867-2A>T
c.1741-2A>T (n.1741-2A>T)
c.1492-2A>T (n.1492-2A>T)
3g.133777048G>ACA354610815TFc.1873-1G>A (n.1873-1G>A)
c.604-1G>A
n.2867-1G>A
c.1741-1G>A (n.1741-1G>A)
c.1492-1G>A (n.1492-1G>A)
 COSMIC
3g.133777048G>CCA354610817TFc.1873-1G>C (n.1873-1G>C)
c.604-1G>C
n.2867-1G>C
c.1741-1G>C (n.1741-1G>C)
c.1492-1G>C (n.1492-1G>C)
3g.133777048G>TCA354610819TFc.1873-1G>T (n.1873-1G>T)
c.604-1G>T
n.2867-1G>T
c.1741-1G>T (n.1741-1G>T)
c.1492-1G>T (n.1492-1G>T)
 COSMIC
3g.133777049C>ACA354610822TFc.1873C>A (p.His625Asn)
c.604C>A
n.2867C>A
c.1741C>A (p.His581Asn)
c.1492C>A (p.His498Asn)
 COSMIC
3g.133777049C=CA1403124685TFc.1873C= (p.His625=)
c.604C=
n.2867C=
c.1741C= (p.His581=)
c.1492C= (p.His498=)
3g.133777049C>GCA354610823TFc.1873C>G (p.His625Asp)
c.604C>G
n.2867C>G
c.1741C>G (p.His581Asp)
c.1492C>G (p.His498Asp)
 gnomAD v4
3g.133777049C>TCA354610825TFc.1873C>T (p.His625Tyr)
c.604C>T
n.2867C>T
c.1741C>T (p.His581Tyr)
c.1492C>T (p.His498Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.133777050A>CCA354610827TFc.1874A>C (p.His625Pro)
c.605A>C
n.2868A>C
c.1742A>C (p.His581Pro)
c.1493A>C (p.His498Pro)
3g.133777050A>GCA354610829TFc.1874A>G (p.His625Arg)
c.605A>G
n.2868A>G
c.1742A>G (p.His581Arg)
c.1493A>G (p.His498Arg)
3g.133777050A>TCA354610831TFc.1874A>T (p.His625Leu)
c.605A>T
n.2868A>T
c.1742A>T (p.His581Leu)
c.1493A>T (p.His498Leu)
3g.133777051C>ACA354610833TFc.1875C>A (p.His625Gln)
c.606C>A
n.2869C>A
c.1743C>A (p.His581Gln)
c.1494C>A (p.His498Gln)
3g.133777051C=CA1403124688TFc.1875C= (p.His625=)
c.606C=
n.2869C=
c.1743C= (p.His581=)
c.1494C= (p.His498=)
3g.133777051C>GCA354610835TFc.1875C>G (p.His625Gln)
c.606C>G
n.2869C>G
c.1743C>G (p.His581Gln)
c.1494C>G (p.His498Gln)
3g.133777051C>TCA435815894TFc.1875C>T (p.His625=)
c.606C>T
n.2869C>T
c.1743C>T (p.His581=)
c.1494C>T (p.His498=)
 dbSNP
3g.133777052C>ACA354610837TFc.1876C>A (p.Leu626Ile)
c.607C>A
n.2870C>A
c.1744C>A (p.Leu582Ile)
c.1495C>A (p.Leu499Ile)
3g.133777052C>GCA354610840TFc.1876C>G (p.Leu626Val)
c.607C>G
n.2870C>G
c.1744C>G (p.Leu582Val)
c.1495C>G (p.Leu499Val)
3g.133777052C>TCA435815895TFc.1876C>T (p.Leu626=)
c.607C>T
n.2870C>T
c.1744C>T (p.Leu582=)
c.1495C>T (p.Leu499=)
 ClinVar
3g.133777053T>ACA354610847TFc.1877T>A (p.Leu626Gln)
c.608T>A
n.2871T>A
c.1745T>A (p.Leu582Gln)
c.1496T>A (p.Leu499Gln)
3g.133777053T>CCA354610845TFc.1877T>C (p.Leu626Pro)
c.608T>C
n.2871T>C
c.1745T>C (p.Leu582Pro)
c.1496T>C (p.Leu499Pro)
3g.133777053T>GCA354610844TFc.1877T>G (p.Leu626Arg)
c.608T>G
n.2871T>G
c.1745T>G (p.Leu582Arg)
c.1496T>G (p.Leu499Arg)
3g.133777054A=CA1403124695TFc.1878A= (p.Leu626=)
c.609A=
n.2872A=
c.1746A= (p.Leu582=)
c.1497A= (p.Leu499=)
3g.133777054A>CCA435815896TFc.1878A>C (p.Leu626=)
c.609A>C
n.2872A>C
c.1746A>C (p.Leu582=)
c.1497A>C (p.Leu499=)
3g.133777054A>GCA435815897TFc.1878A>G (p.Leu626=)
c.609A>G
n.2872A>G
c.1746A>G (p.Leu582=)
c.1497A>G (p.Leu499=)
 dbSNP gnomAD v2 gnomAD v4
3g.133777054A>TCA435815898TFc.1878A>T (p.Leu626=)
c.609A>T
n.2872A>T
c.1746A>T (p.Leu582=)
c.1497A>T (p.Leu499=)
3g.133777055T>ACA354610852TFc.1879T>A (p.Phe627Ile)
c.610T>A
n.2873T>A
c.1747T>A (p.Phe583Ile)
c.1498T>A (p.Phe500Ile)
3g.133777055T>CCA354610854TFc.1879T>C (p.Phe627Leu)
c.610T>C
n.2873T>C
c.1747T>C (p.Phe583Leu)
c.1498T>C (p.Phe500Leu)
 dbSNP
3g.133777055T>GCA354610856TFc.1879T>G (p.Phe627Val)
c.610T>G
n.2873T>G
c.1747T>G (p.Phe583Val)
c.1498T>G (p.Phe500Val)
3g.133777055T=CA1403124700TFc.1879T= (p.Phe627=)
c.610T=
n.2873T=
c.1747T= (p.Phe583=)
c.1498T= (p.Phe500=)
3g.133777056T>ACA354610858TFc.1880T>A (p.Phe627Tyr)
c.611T>A
n.2874T>A
c.1748T>A (p.Phe583Tyr)
c.1499T>A (p.Phe500Tyr)
 dbSNP
3g.133777056T>CCA354610860TFc.1880T>C (p.Phe627Ser)
c.611T>C
n.2874T>C
c.1748T>C (p.Phe583Ser)
c.1499T>C (p.Phe500Ser)
3g.133777056T>GCA354610862TFc.1880T>G (p.Phe627Cys)
c.611T>G
n.2874T>G
c.1748T>G (p.Phe583Cys)
c.1499T>G (p.Phe500Cys)
3g.133777056T=CA1403124708TFc.1880T= (p.Phe627=)
c.611T=
n.2874T=
c.1748T= (p.Phe583=)
c.1499T= (p.Phe500=)
3g.133777057T>ACA354610864TFc.1881T>A (p.Phe627Leu)
c.612T>A
n.2875T>A
c.1749T>A (p.Phe583Leu)
c.1500T>A (p.Phe500Leu)
3g.133777057T>CCA435815899TFc.1881T>C (p.Phe627=)
c.612T>C
n.2875T>C
c.1749T>C (p.Phe583=)
c.1500T>C (p.Phe500=)
3g.133777057T>GCA354610866TFc.1881T>G (p.Phe627Leu)
c.612T>G
n.2875T>G
c.1749T>G (p.Phe583Leu)
c.1500T>G (p.Phe500Leu)
3g.133777058G>ACA354610868TFc.1882G>A (p.Gly628Arg)
c.613G>A
n.2876G>A
c.1750G>A (p.Gly584Arg)
c.1501G>A (p.Gly501Arg)
 gnomAD v4
3g.133777058G>CCA354610869TFc.1882G>C (p.Gly628Arg)
c.613G>C
n.2876G>C
c.1750G>C (p.Gly584Arg)
c.1501G>C (p.Gly501Arg)
3g.133777058G>TCA354610870TFc.1882G>T (p.Gly628Ter)
c.613G>T
n.2876G>T
c.1750G>T (p.Gly584Ter)
c.1501G>T (p.Gly501Ter)
3g.133777059G>ACA354610871TFc.1883G>A (p.Gly628Glu)
c.614G>A
n.2877G>A
c.1751G>A (p.Gly584Glu)
c.1502G>A (p.Gly501Glu)
3g.133777059G>CCA354610872TFc.1883G>C (p.Gly628Ala)
c.614G>C
n.2877G>C
c.1751G>C (p.Gly584Ala)
c.1502G>C (p.Gly501Ala)
3g.133777059G=CA1403124712TFc.1883G= (p.Gly628=)
c.614G=
n.2877G=
c.1751G= (p.Gly584=)
c.1502G= (p.Gly501=)
3g.133777059G>TCA2625443TFc.1883G>T (p.Gly628Val)
c.614G>T
n.2877G>T
c.1751G>T (p.Gly584Val)
c.1502G>T (p.Gly501Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777060A>CCA435815900TFc.1884A>C (p.Gly628=)
c.615A>C
n.2878A>C
c.1752A>C (p.Gly584=)
c.1503A>C (p.Gly501=)
3g.133777060A>GCA435815901TFc.1884A>G (p.Gly628=)
c.615A>G
n.2878A>G
c.1752A>G (p.Gly584=)
c.1503A>G (p.Gly501=)
3g.133777060A>TCA435815902TFc.1884A>T (p.Gly628=)
c.615A>T
n.2878A>T
c.1752A>T (p.Gly584=)
c.1503A>T (p.Gly501=)
3g.133777061A>CCA354610878TFc.1885A>C (p.Ser629Arg)
c.616A>C
n.2879A>C
c.1753A>C (p.Ser585Arg)
c.1504A>C (p.Ser502Arg)
3g.133777061A>GCA354610880TFc.1885A>G (p.Ser629Gly)
c.616A>G
n.2879A>G
c.1753A>G (p.Ser585Gly)
c.1504A>G (p.Ser502Gly)
3g.133777061A>TCA354610876TFc.1885A>T (p.Ser629Cys)
c.616A>T
n.2879A>T
c.1753A>T (p.Ser585Cys)
c.1504A>T (p.Ser502Cys)
3g.133777061_133777062delinsAGCA1403124718TFc.1885_1886delinsAG (p.Ser629=)
c.616_617delinsAG
n.2879_2880delinsAG
c.1753_1754delinsAG (p.Ser585=)
c.1504_1505delinsAG (p.Ser502=)
3g.133777062delCA2625444TFc.1886del (p.Ser629ThrfsTer3)
c.617del
n.2880del
c.1754del (p.Ser585ThrfsTer3)
c.1505del (p.Ser502ThrfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777062G>ACA354610882TFc.1886G>A (p.Ser629Asn)
c.617G>A
n.2880G>A
c.1754G>A (p.Ser585Asn)
c.1505G>A (p.Ser502Asn)
 gnomAD v4
3g.133777062G>CCA354610884TFc.1886G>C (p.Ser629Thr)
c.617G>C
n.2880G>C
c.1754G>C (p.Ser585Thr)
c.1505G>C (p.Ser502Thr)
3g.133777062G>TCA354610885TFc.1886G>T (p.Ser629Ile)
c.617G>T
n.2880G>T
c.1754G>T (p.Ser585Ile)
c.1505G>T (p.Ser502Ile)
 ClinVar
3g.133777063C>ACA2625445TFc.1887C>A (p.Ser629Arg)
c.618C>A
n.2881C>A
c.1755C>A (p.Ser585Arg)
c.1506C>A (p.Ser502Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777063C=CA1403124722TFc.1887C= (p.Ser629=)
c.618C=
n.2881C=
c.1755C= (p.Ser585=)
c.1506C= (p.Ser502=)
3g.133777063C>GCA354610888TFc.1887C>G (p.Ser629Arg)
c.618C>G
n.2881C>G
c.1755C>G (p.Ser585Arg)
c.1506C>G (p.Ser502Arg)
3g.133777063C>TCA435815903TFc.1887C>T (p.Ser629=)
c.618C>T
n.2881C>T
c.1755C>T (p.Ser585=)
c.1506C>T (p.Ser502=)
3g.133777064A>CCA354610890TFc.1888A>C (p.Asn630His)
c.619A>C
n.2882A>C
c.1756A>C (p.Asn586His)
c.1507A>C (p.Asn503His)
3g.133777064A>GCA354610891TFc.1888A>G (p.Asn630Asp)
c.619A>G
n.2882A>G
c.1756A>G (p.Asn586Asp)
c.1507A>G (p.Asn503Asp)
3g.133777064A>TCA354610892TFc.1888A>T (p.Asn630Tyr)
c.619A>T
n.2882A>T
c.1756A>T (p.Asn586Tyr)
c.1507A>T (p.Asn503Tyr)
3g.133777065A>CCA354610894TFc.1889A>C (p.Asn630Thr)
c.620A>C
n.2883A>C
c.1757A>C (p.Asn586Thr)
c.1508A>C (p.Asn503Thr)
3g.133777065A>GCA354610896TFc.1889A>G (p.Asn630Ser)
c.620A>G
n.2883A>G
c.1757A>G (p.Asn586Ser)
c.1508A>G (p.Asn503Ser)
3g.133777065A>TCA354610897TFc.1889A>T (p.Asn630Ile)
c.620A>T
n.2883A>T
c.1757A>T (p.Asn586Ile)
c.1508A>T (p.Asn503Ile)
3g.133777066C>ACA2625447TFc.1890C>A (p.Asn630Lys)
c.621C>A
n.2884C>A
c.1758C>A (p.Asn586Lys)
c.1509C>A (p.Asn503Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777066C=CA1403124728TFc.1890C= (p.Asn630=)
c.621C=
n.2884C=
c.1758C= (p.Asn586=)
c.1509C= (p.Asn503=)
3g.133777066C>GCA354610901TFc.1890C>G (p.Asn630Lys)
c.621C>G
n.2884C>G
c.1758C>G (p.Asn586Lys)
c.1509C>G (p.Asn503Lys)
3g.133777066C>TCA2625446TFc.1890C>T (p.Asn630=)
c.621C>T
n.2884C>T
c.1758C>T (p.Asn586=)
c.1509C>T (p.Asn503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133777067G>ACA2625448TFc.1891G>A (p.Val631Ile)
c.622G>A
n.2885G>A
c.1759G>A (p.Val587Ile)
c.1510G>A (p.Val504Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777067G>CCA354610909TFc.1891G>C (p.Val631Leu)
c.622G>C
n.2885G>C
c.1759G>C (p.Val587Leu)
c.1510G>C (p.Val504Leu)
3g.133777067G=CA1403124733TFc.1891G= (p.Val631=)
c.622G=
n.2885G=
c.1759G= (p.Val587=)
c.1510G= (p.Val504=)
3g.133777067G>TCA354610912TFc.1891G>T (p.Val631Leu)
c.622G>T
n.2885G>T
c.1759G>T (p.Val587Leu)
c.1510G>T (p.Val504Leu)
 dbSNP gnomAD v2
3g.133777068T>ACA354610915TFc.1892T>A (p.Val631Glu)
c.623T>A
n.2886T>A
c.1760T>A (p.Val587Glu)
c.1511T>A (p.Val504Glu)
3g.133777068T>CCA354610917TFc.1892T>C (p.Val631Ala)
c.623T>C
n.2886T>C
c.1760T>C (p.Val587Ala)
c.1511T>C (p.Val504Ala)
 gnomAD v4
3g.133777068T>GCA354610919TFc.1892T>G (p.Val631Gly)
c.623T>G
n.2886T>G
c.1760T>G (p.Val587Gly)
c.1511T>G (p.Val504Gly)
3g.133777068dupCA2667772267TFc.1892dup (p.Thr632AsnfsTer2)
c.623dup
n.2886dup
c.1760dup (p.Thr588AsnfsTer2)
c.1511dup (p.Thr505AsnfsTer2)
 gnomAD v4
3g.133777069A>CCA435815904TFc.1893A>C (p.Val631=)
c.624A>C
n.2887A>C
c.1761A>C (p.Val587=)
c.1512A>C (p.Val504=)
 gnomAD v4
3g.133777069A>GCA435815905TFc.1893A>G (p.Val631=)
c.624A>G
n.2887A>G
c.1761A>G (p.Val587=)
c.1512A>G (p.Val504=)
3g.133777069A>TCA435815906TFc.1893A>T (p.Val631=)
c.624A>T
n.2887A>T
c.1761A>T (p.Val587=)
c.1512A>T (p.Val504=)
3g.133777070A=CA1403124737TFc.1894A= (p.Thr632=)
c.625A=
n.2888A=
c.1762A= (p.Thr588=)
c.1513A= (p.Thr505=)
3g.133777070A>CCA354610921TFc.1894A>C (p.Thr632Pro)
c.625A>C
n.2888A>C
c.1762A>C (p.Thr588Pro)
c.1513A>C (p.Thr505Pro)
3g.133777070A>GCA2625449TFc.1894A>G (p.Thr632Ala)
c.625A>G
n.2888A>G
c.1762A>G (p.Thr588Ala)
c.1513A>G (p.Thr505Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777070A>TCA354610924TFc.1894A>T (p.Thr632Ser)
c.625A>T
n.2888A>T
c.1762A>T (p.Thr588Ser)
c.1513A>T (p.Thr505Ser)
3g.133777071C>ACA354610927TFc.1895C>A (p.Thr632Asn)
c.626C>A
n.2889C>A
c.1763C>A (p.Thr588Asn)
c.1514C>A (p.Thr505Asn)
3g.133777071C>GCA354610929TFc.1895C>G (p.Thr632Ser)
c.626C>G
n.2889C>G
c.1763C>G (p.Thr588Ser)
c.1514C>G (p.Thr505Ser)
3g.133777071C>TCA354610936TFc.1895C>T (p.Thr632Ile)
c.626C>T
n.2889C>T
c.1763C>T (p.Thr588Ile)
c.1514C>T (p.Thr505Ile)
3g.133777072T>ACA435815907TFc.1896T>A (p.Thr632=)
c.627T>A
n.2890T>A
c.1764T>A (p.Thr588=)
c.1515T>A (p.Thr505=)
3g.133777072T>CCA435815909TFc.1896T>C (p.Thr632=)
c.627T>C
n.2890T>C
c.1764T>C (p.Thr588=)
c.1515T>C (p.Thr505=)
3g.133777072T>GCA435815908TFc.1896T>G (p.Thr632=)
c.627T>G
n.2890T>G
c.1764T>G (p.Thr588=)
c.1515T>G (p.Thr505=)
3g.133777073G>ACA354610945TFc.1897G>A (p.Asp633Asn)
c.628G>A
n.2891G>A
c.1765G>A (p.Asp589Asn)
c.1516G>A (p.Asp506Asn)
3g.133777073G>CCA354610943TFc.1897G>C (p.Asp633His)
c.628G>C
n.2891G>C
c.1765G>C (p.Asp589His)
c.1516G>C (p.Asp506His)
3g.133777073G=CA1403124740TFc.1897G= (p.Asp633=)
c.628G=
n.2891G=
c.1765G= (p.Asp589=)
c.1516G= (p.Asp506=)
3g.133777073G>TCA354610940TFc.1897G>T (p.Asp633Tyr)
c.628G>T
n.2891G>T
c.1765G>T (p.Asp589Tyr)
c.1516G>T (p.Asp506Tyr)
 gnomAD v4 COSMIC
3g.133777074A>CCA354610953TFc.1898A>C (p.Asp633Ala)
c.629A>C
n.2892A>C
c.1766A>C (p.Asp589Ala)
c.1517A>C (p.Asp506Ala)
3g.133777074A>GCA354610955TFc.1898A>G (p.Asp633Gly)
c.629A>G
n.2892A>G
c.1766A>G (p.Asp589Gly)
c.1517A>G (p.Asp506Gly)
3g.133777074A>TCA354610950TFc.1898A>T (p.Asp633Val)
c.629A>T
n.2892A>T
c.1766A>T (p.Asp589Val)
c.1517A>T (p.Asp506Val)
3g.133777074dupCA2625450TFc.1898dup (p.Asp633GlufsTer21)
c.629dup
n.2892dup
c.1766dup (p.Asp589GlufsTer21)
c.1517dup (p.Asp506GlufsTer21)
 dbSNP ExAC
3g.133777075C>ACA354610960TFc.1899C>A (p.Asp633Glu)
c.630C>A
n.2893C>A
c.1767C>A (p.Asp589Glu)
c.1518C>A (p.Asp506Glu)
3g.133777075C>GCA354610958TFc.1899C>G (p.Asp633Glu)
c.630C>G
n.2893C>G
c.1767C>G (p.Asp589Glu)
c.1518C>G (p.Asp506Glu)
3g.133777075C>TCA435815910TFc.1899C>T (p.Asp633=)
c.630C>T
n.2893C>T
c.1767C>T (p.Asp589=)
c.1518C>T (p.Asp506=)
3g.133777076T>ACA354610963TFc.1900T>A (p.Cys634Ser)
c.631T>A
n.2894T>A
c.1768T>A (p.Cys590Ser)
c.1519T>A (p.Cys507Ser)
3g.133777076T>CCA354610965TFc.1900T>C (p.Cys634Arg)
c.631T>C
n.2894T>C
c.1768T>C (p.Cys590Arg)
c.1519T>C (p.Cys507Arg)
3g.133777076T>GCA354610967TFc.1900T>G (p.Cys634Gly)
c.631T>G
n.2894T>G
c.1768T>G (p.Cys590Gly)
c.1519T>G (p.Cys507Gly)
3g.133777077G>ACA354610970TFc.1901G>A (p.Cys634Tyr)
c.632G>A
n.2895G>A
c.1769G>A (p.Cys590Tyr)
c.1520G>A (p.Cys507Tyr)
3g.133777077G>CCA354610972TFc.1901G>C (p.Cys634Ser)
c.632G>C
n.2895G>C
c.1769G>C (p.Cys590Ser)
c.1520G>C (p.Cys507Ser)
 gnomAD v4
3g.133777077G>TCA354610974TFc.1901G>T (p.Cys634Phe)
c.632G>T
n.2895G>T
c.1769G>T (p.Cys590Phe)
c.1520G>T (p.Cys507Phe)
3g.133777078C>ACA354610976TFc.1902C>A (p.Cys634Ter)
c.633C>A
n.2896C>A
c.1770C>A (p.Cys590Ter)
c.1521C>A (p.Cys507Ter)
3g.133777078C>GCA354610978TFc.1902C>G (p.Cys634Trp)
c.633C>G
n.2896C>G
c.1770C>G (p.Cys590Trp)
c.1521C>G (p.Cys507Trp)
3g.133777078C>TCA435815911TFc.1902C>T (p.Cys634=)
c.633C>T
n.2896C>T
c.1770C>T (p.Cys590=)
c.1521C>T (p.Cys507=)
 gnomAD v4
3g.133777079T>ACA354610980TFc.1903T>A (p.Ser635Thr)
c.634T>A
n.2897T>A
c.1771T>A (p.Ser591Thr)
c.1522T>A (p.Ser508Thr)
3g.133777079T>CCA354610983TFc.1903T>C (p.Ser635Pro)
c.634T>C
n.2897T>C
c.1771T>C (p.Ser591Pro)
c.1522T>C (p.Ser508Pro)
3g.133777079T>GCA354610985TFc.1903T>G (p.Ser635Ala)
c.634T>G
n.2897T>G
c.1771T>G (p.Ser591Ala)
c.1522T>G (p.Ser508Ala)
3g.133777080C>ACA354610989TFc.1904C>A (p.Ser635Ter)
c.635C>A
n.2898C>A
c.1772C>A (p.Ser591Ter)
c.1523C>A (p.Ser508Ter)
3g.133777080C=CA1403124750TFc.1904C= (p.Ser635=)
c.635C=
n.2898C=
c.1772C= (p.Ser591=)
c.1523C= (p.Ser508=)
3g.133777080C>GCA354610987TFc.1904C>G (p.Ser635Trp)
c.635C>G
n.2898C>G
c.1772C>G (p.Ser591Trp)
c.1523C>G (p.Ser508Trp)
3g.133777080C>TCA2625451TFc.1904C>T (p.Ser635Leu)
c.635C>T
n.2898C>T
c.1772C>T (p.Ser591Leu)
c.1523C>T (p.Ser508Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777080_133777081delinsCGCA1403124755TFc.1904_1905delinsCG (p.Ser635=)
c.635_636delinsCG
n.2898_2899delinsCG
c.1772_1773delinsCG (p.Ser591=)
c.1523_1524delinsCG (p.Ser508=)
3g.133777081G>ACA2625452TFc.1905G>A (p.Ser635=)
c.636G>A
n.2899G>A
c.1773G>A (p.Ser591=)
c.1524G>A (p.Ser508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777081G>CCA435815912TFc.1905G>C (p.Ser635=)
c.636G>C
n.2899G>C
c.1773G>C (p.Ser591=)
c.1524G>C (p.Ser508=)
3g.133777081G=CA1403124766TFc.1905G= (p.Ser635=)
c.636G=
n.2899G=
c.1773G= (p.Ser591=)
c.1524G= (p.Ser508=)
3g.133777081G>TCA435815913TFc.1905G>T (p.Ser635=)
c.636G>T
n.2899G>T
c.1773G>T (p.Ser591=)
c.1524G>T (p.Ser508=)
 ClinVar
3g.133777083delCA1403124763TFc.1907del (p.Gly636AlafsTer?)
c.638del
n.2901del
c.1775del (p.Gly592AlafsTer?)
c.1526del (p.Gly509AlafsTer?)
 dbSNP
3g.133777082G>ACA354610993TFc.1906G>A (p.Gly636Ser)
c.637G>A
n.2900G>A
c.1774G>A (p.Gly592Ser)
c.1525G>A (p.Gly509Ser)
 gnomAD v4
3g.133777082G>CCA354610995TFc.1906G>C (p.Gly636Arg)
c.637G>C
n.2900G>C
c.1774G>C (p.Gly592Arg)
c.1525G>C (p.Gly509Arg)
3g.133777082G>TCA354610997TFc.1906G>T (p.Gly636Cys)
c.637G>T
n.2900G>T
c.1774G>T (p.Gly592Cys)
c.1525G>T (p.Gly509Cys)
3g.133777083G>ACA354610999TFc.1907G>A (p.Gly636Asp)
c.638G>A
n.2901G>A
c.1775G>A (p.Gly592Asp)
c.1526G>A (p.Gly509Asp)
 COSMIC
3g.133777083G>CCA354611001TFc.1907G>C (p.Gly636Ala)
c.638G>C
n.2901G>C
c.1775G>C (p.Gly592Ala)
c.1526G>C (p.Gly509Ala)
3g.133777083G>TCA354611003TFc.1907G>T (p.Gly636Val)
c.638G>T
n.2901G>T
c.1775G>T (p.Gly592Val)
c.1526G>T (p.Gly509Val)
3g.133777084C>ACA83694273TFc.1908C>A (p.Gly636=)
c.639C>A
n.2902C>A
c.1776C>A (p.Gly592=)
c.1527C>A (p.Gly509=)
 ClinVar dbSNP
3g.133777084C=CA1403124771TFc.1908C= (p.Gly636=)
c.639C=
n.2902C=
c.1776C= (p.Gly592=)
c.1527C= (p.Gly509=)
3g.133777084C>GCA435815915TFc.1908C>G (p.Gly636=)
c.639C>G
n.2902C>G
c.1776C>G (p.Gly592=)
c.1527C>G (p.Gly509=)
3g.133777084C>TCA435815914TFc.1908C>T (p.Gly636=)
c.639C>T
n.2902C>T
c.1776C>T (p.Gly592=)
c.1527C>T (p.Gly509=)
 dbSNP
3g.133777085A>CCA354611006TFc.1909A>C (p.Asn637His)
c.640A>C
n.2903A>C
c.1777A>C (p.Asn593His)
c.1528A>C (p.Asn510His)
3g.133777085A>GCA354611009TFc.1909A>G (p.Asn637Asp)
c.640A>G
n.2903A>G
c.1777A>G (p.Asn593Asp)
c.1528A>G (p.Asn510Asp)
3g.133777085A>TCA354611011TFc.1909A>T (p.Asn637Tyr)
c.640A>T
n.2903A>T
c.1777A>T (p.Asn593Tyr)
c.1528A>T (p.Asn510Tyr)
3g.133777086A>CCA354611021TFc.1910A>C (p.Asn637Thr)
c.641A>C
n.2904A>C
c.1778A>C (p.Asn593Thr)
c.1529A>C (p.Asn510Thr)
3g.133777086A>GCA354611018TFc.1910A>G (p.Asn637Ser)
c.641A>G
n.2904A>G
c.1778A>G (p.Asn593Ser)
c.1529A>G (p.Asn510Ser)
3g.133777086A>TCA354611017TFc.1910A>T (p.Asn637Ile)
c.641A>T
n.2904A>T
c.1778A>T (p.Asn593Ile)
c.1529A>T (p.Asn510Ile)
3g.133777087C>ACA2625454TFc.1911C>A (p.Asn637Lys)
c.642C>A
n.2905C>A
c.1779C>A (p.Asn593Lys)
c.1530C>A (p.Asn510Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777087C=CA1403124779TFc.1911C= (p.Asn637=)
c.642C=
n.2905C=
c.1779C= (p.Asn593=)
c.1530C= (p.Asn510=)
3g.133777087C>GCA354611025TFc.1911C>G (p.Asn637Lys)
c.642C>G
n.2905C>G
c.1779C>G (p.Asn593Lys)
c.1530C>G (p.Asn510Lys)
3g.133777087C>TCA2625453TFc.1911C>T (p.Asn637=)
c.642C>T
n.2905C>T
c.1779C>T (p.Asn593=)
c.1530C>T (p.Asn510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777088T>ACA2625455TFc.1912T>A (p.Phe638Ile)
c.643T>A
n.2906T>A
c.1780T>A (p.Phe594Ile)
c.1531T>A (p.Phe511Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777088T>CCA354611029TFc.1912T>C (p.Phe638Leu)
c.643T>C
n.2906T>C
c.1780T>C (p.Phe594Leu)
c.1531T>C (p.Phe511Leu)
3g.133777088T>GCA83694298TFc.1912T>G (p.Phe638Val)
c.643T>G
n.2906T>G
c.1780T>G (p.Phe594Val)
c.1531T>G (p.Phe511Val)
 dbSNP
3g.133777088T=CA1403124784TFc.1912T= (p.Phe638=)
c.643T=
n.2906T=
c.1780T= (p.Phe594=)
c.1531T= (p.Phe511=)
3g.133777089T>ACA354611033TFc.1913T>A (p.Phe638Tyr)
c.644T>A
n.2907T>A
c.1781T>A (p.Phe594Tyr)
c.1532T>A (p.Phe511Tyr)
3g.133777089T>CCA354611035TFc.1913T>C (p.Phe638Ser)
c.644T>C
n.2907T>C
c.1781T>C (p.Phe594Ser)
c.1532T>C (p.Phe511Ser)
3g.133777089T>GCA354611037TFc.1913T>G (p.Phe638Cys)
c.644T>G
n.2907T>G
c.1781T>G (p.Phe594Cys)
c.1532T>G (p.Phe511Cys)
3g.133777090T>ACA354611040TFc.1914T>A (p.Phe638Leu)
c.645T>A
n.2908T>A
c.1782T>A (p.Phe594Leu)
c.1533T>A (p.Phe511Leu)
3g.133777090T>CCA2625456TFc.1914T>C (p.Phe638=)
c.645T>C
n.2908T>C
c.1782T>C (p.Phe594=)
c.1533T>C (p.Phe511=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777090T>GCA354611042TFc.1914T>G (p.Phe638Leu)
c.645T>G
n.2908T>G
c.1782T>G (p.Phe594Leu)
c.1533T>G (p.Phe511Leu)
 gnomAD v4
3g.133777090T=CA1403124786TFc.1914T= (p.Phe638=)
c.645T=
n.2908T=
c.1782T= (p.Phe594=)
c.1533T= (p.Phe511=)
3g.133777091T>ACA354611048TFc.1915T>A (p.Cys639Ser)
c.646T>A
n.2909T>A
c.1783T>A (p.Cys595Ser)
c.1534T>A (p.Cys512Ser)
3g.133777091T>CCA354611044TFc.1915T>C (p.Cys639Arg)
c.646T>C
n.2909T>C
c.1783T>C (p.Cys595Arg)
c.1534T>C (p.Cys512Arg)
 ClinVar dbSNP gnomAD v4
3g.133777091T>GCA354611046TFc.1915T>G (p.Cys639Gly)
c.646T>G
n.2909T>G
c.1783T>G (p.Cys595Gly)
c.1534T>G (p.Cys512Gly)
3g.133777091T=CA1403124790TFc.1915T= (p.Cys639=)
c.646T=
n.2909T=
c.1783T= (p.Cys595=)
c.1534T= (p.Cys512=)
3g.133777092G>ACA354611050TFc.1916G>A (p.Cys639Tyr)
c.647G>A
n.2910G>A
c.1784G>A (p.Cys595Tyr)
c.1535G>A (p.Cys512Tyr)
3g.133777092G>CCA354611052TFc.1916G>C (p.Cys639Ser)
c.647G>C
n.2910G>C
c.1784G>C (p.Cys595Ser)
c.1535G>C (p.Cys512Ser)
3g.133777092G>TCA354611054TFc.1916G>T (p.Cys639Phe)
c.647G>T
n.2910G>T
c.1784G>T (p.Cys595Phe)
c.1535G>T (p.Cys512Phe)
3g.133777093T>ACA354611057TFc.1917T>A (p.Cys639Ter)
c.648T>A
n.2911T>A
c.1785T>A (p.Cys595Ter)
c.1536T>A (p.Cys512Ter)
3g.133777093T>CCA435815916TFc.1917T>C (p.Cys639=)
c.648T>C
n.2911T>C
c.1785T>C (p.Cys595=)
c.1536T>C (p.Cys512=)
3g.133777093T>GCA354611059TFc.1917T>G (p.Cys639Trp)
c.648T>G
n.2911T>G
c.1785T>G (p.Cys595Trp)
c.1536T>G (p.Cys512Trp)
3g.133777094T>ACA354611061TFc.1918T>A (p.Leu640Met)
c.649T>A
n.2912T>A
c.1786T>A (p.Leu596Met)
c.1537T>A (p.Leu513Met)
3g.133777094T>CCA435815917TFc.1918T>C (p.Leu640=)
c.649T>C
n.2912T>C
c.1786T>C (p.Leu596=)
c.1537T>C (p.Leu513=)
3g.133777094T>GCA354611063TFc.1918T>G (p.Leu640Val)
c.649T>G
n.2912T>G
c.1786T>G (p.Leu596Val)
c.1537T>G (p.Leu513Val)
3g.133777095T>ACA354611066TFc.1919T>A (p.Leu640Ter)
c.650T>A
n.2913T>A
c.1787T>A (p.Leu596Ter)
c.1538T>A (p.Leu513Ter)
3g.133777095T>CCA354611068TFc.1919T>C (p.Leu640Ser)
c.650T>C
n.2913T>C
c.1787T>C (p.Leu596Ser)
c.1538T>C (p.Leu513Ser)
3g.133777095T>GCA354611071TFc.1919T>G (p.Leu640Trp)
c.650T>G
n.2913T>G
c.1787T>G (p.Leu596Trp)
c.1538T>G (p.Leu513Trp)
3g.133777096G>ACA435815918TFc.1920G>A (p.Leu640=)
c.651G>A
n.2914G>A
c.1788G>A (p.Leu596=)
c.1539G>A (p.Leu513=)
3g.133777096G>CCA354611073TFc.1920G>C (p.Leu640Phe)
c.651G>C
n.2914G>C
c.1788G>C (p.Leu596Phe)
c.1539G>C (p.Leu513Phe)
3g.133777096G>TCA354611075TFc.1920G>T (p.Leu640Phe)
c.651G>T
n.2914G>T
c.1788G>T (p.Leu596Phe)
c.1539G>T (p.Leu513Phe)
3g.133777097T>ACA354611079TFc.1921T>A (p.Phe641Ile)
c.652T>A
n.2915T>A
c.1789T>A (p.Phe597Ile)
c.1540T>A (p.Phe514Ile)
3g.133777097T>CCA354611081TFc.1921T>C (p.Phe641Leu)
c.652T>C
n.2915T>C
c.1789T>C (p.Phe597Leu)
c.1540T>C (p.Phe514Leu)
3g.133777097T>GCA354611077TFc.1921T>G (p.Phe641Val)
c.652T>G
n.2915T>G
c.1789T>G (p.Phe597Val)
c.1540T>G (p.Phe514Val)
3g.133777098T>ACA354611082TFc.1922T>A (p.Phe641Tyr)
c.653T>A
n.2916T>A
c.1790T>A (p.Phe597Tyr)
c.1541T>A (p.Phe514Tyr)
3g.133777098T>CCA354611084TFc.1922T>C (p.Phe641Ser)
c.653T>C
n.2916T>C
c.1790T>C (p.Phe597Ser)
c.1541T>C (p.Phe514Ser)
3g.133777098T>GCA354611086TFc.1922T>G (p.Phe641Cys)
c.653T>G
n.2916T>G
c.1790T>G (p.Phe597Cys)
c.1541T>G (p.Phe514Cys)
3g.133777099C>ACA354611088TFc.1923C>A (p.Phe641Leu)
c.654C>A
n.2917C>A
c.1791C>A (p.Phe597Leu)
c.1542C>A (p.Phe514Leu)
3g.133777099C=CA1403124794TFc.1923C= (p.Phe641=)
c.654C=
n.2917C=
c.1791C= (p.Phe597=)
c.1542C= (p.Phe514=)
3g.133777099C>GCA2625457TFc.1923C>G (p.Phe641Leu)
c.654C>G
n.2917C>G
c.1791C>G (p.Phe597Leu)
c.1542C>G (p.Phe514Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777099C>TCA435815919TFc.1923C>T (p.Phe641=)
c.654C>T
n.2917C>T
c.1791C>T (p.Phe597=)
c.1542C>T (p.Phe514=)
3g.133777100C>ACA435815920TFc.1924C>A (p.Arg642=)
c.655C>A
n.2918C>A
c.1792C>A (p.Arg598=)
c.1543C>A (p.Arg515=)
3g.133777100C=CA1403124797TFc.1924C= (p.Arg642=)
c.655C=
n.2918C=
c.1792C= (p.Arg598=)
c.1543C= (p.Arg515=)
3g.133777100C>GCA354611091TFc.1924C>G (p.Arg642Gly)
c.655C>G
n.2918C>G
c.1792C>G (p.Arg598Gly)
c.1543C>G (p.Arg515Gly)
3g.133777100C>TCA2625458TFc.1924C>T (p.Arg642Trp)
c.655C>T
n.2918C>T
c.1792C>T (p.Arg598Trp)
c.1543C>T (p.Arg515Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133777101G>ACA2625459TFc.1925G>A (p.Arg642Gln)
c.656G>A
n.2919G>A
c.1793G>A (p.Arg598Gln)
c.1544G>A (p.Arg515Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777101G>CCA354611097TFc.1925G>C (p.Arg642Pro)
c.656G>C
n.2919G>C
c.1793G>C (p.Arg598Pro)
c.1544G>C (p.Arg515Pro)
 dbSNP
3g.133777101G=CA1403124799TFc.1925G= (p.Arg642=)
c.656G=
n.2919G=
c.1793G= (p.Arg598=)
c.1544G= (p.Arg515=)
3g.133777101G>TCA354611095TFc.1925G>T (p.Arg642Leu)
c.656G>T
n.2919G>T
c.1793G>T (p.Arg598Leu)
c.1544G>T (p.Arg515Leu)
 dbSNP gnomAD v4
3g.133777102G>ACA435815921TFc.1926G>A (p.Arg642=)
c.657G>A
n.2920G>A
c.1794G>A (p.Arg598=)
c.1545G>A (p.Arg515=)
3g.133777102G>CCA83694343TFc.1926G>C (p.Arg642=)
c.657G>C
n.2920G>C
c.1794G>C (p.Arg598=)
c.1545G>C (p.Arg515=)
 dbSNP
3g.133777102G=CA1403124801TFc.1926G= (p.Arg642=)
c.657G=
n.2920G=
c.1794G= (p.Arg598=)
c.1545G= (p.Arg515=)
3g.133777102G>TCA2625460TFc.1926G>T (p.Arg642=)
c.657G>T
n.2920G>T
c.1794G>T (p.Arg598=)
c.1545G>T (p.Arg515=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133777103T>ACA354611108TFc.1927T>A (p.Ser643Thr)
c.658T>A
n.2921T>A
c.1795T>A (p.Ser599Thr)
c.1546T>A (p.Ser516Thr)
3g.133777103T>CCA354611109TFc.1927T>C (p.Ser643Pro)
c.658T>C
n.2921T>C
c.1795T>C (p.Ser599Pro)
c.1546T>C (p.Ser516Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.133777103T>GCA354611110TFc.1927T>G (p.Ser643Ala)
c.658T>G
n.2921T>G
c.1795T>G (p.Ser599Ala)
c.1546T>G (p.Ser516Ala)
3g.133777103T=CA1403124807TFc.1927T= (p.Ser643=)
c.658T=
n.2921T=
c.1795T= (p.Ser599=)
c.1546T= (p.Ser516=)
3g.133777104C>ACA354611111TFc.1928C>A (p.Ser643Ter)
c.659C>A
n.2922C>A
c.1796C>A (p.Ser599Ter)
c.1547C>A (p.Ser516Ter)
 gnomAD v4
3g.133777104C=CA1403124813TFc.1928C= (p.Ser643=)
c.659C=
n.2922C=
c.1796C= (p.Ser599=)
c.1547C= (p.Ser516=)
3g.133777104C>GCA354611113TFc.1928C>G (p.Ser643Trp)
c.659C>G
n.2922C>G
c.1796C>G (p.Ser599Trp)
c.1547C>G (p.Ser516Trp)
 dbSNP gnomAD v3 gnomAD v4
3g.133777104C>TCA354611112TFc.1928C>T (p.Ser643Leu)
c.659C>T
n.2922C>T
c.1796C>T (p.Ser599Leu)
c.1547C>T (p.Ser516Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133777105G>ACA2625461TFc.1929G>A (p.Ser643=)
c.660G>A
n.2923G>A
c.1797G>A (p.Ser599=)
c.1548G>A (p.Ser516=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777105G>CCA435815922TFc.1929G>C (p.Ser643=)
c.660G>C
n.2923G>C
c.1797G>C (p.Ser599=)
c.1548G>C (p.Ser516=)
3g.133777105G=CA1403124825TFc.1929G= (p.Ser643=)
c.660G=
n.2923G=
c.1797G= (p.Ser599=)
c.1548G= (p.Ser516=)
3g.133777105G>TCA435815923TFc.1929G>T (p.Ser643=)
c.660G>T
n.2923G>T
c.1797G>T (p.Ser599=)
c.1548G>T (p.Ser516=)
3g.133777106G>ACA354611116TFc.1930G>A (p.Glu644Lys)
c.661G>A
n.2924G>A
c.1798G>A (p.Glu600Lys)
c.1549G>A (p.Glu517Lys)
3g.133777106G>CCA354611118TFc.1930G>C (p.Glu644Gln)
c.661G>C
n.2924G>C
c.1798G>C (p.Glu600Gln)
c.1549G>C (p.Glu517Gln)
3g.133777106G>TCA354611120TFc.1930G>T (p.Glu644Ter)
c.661G>T
n.2924G>T
c.1798G>T (p.Glu600Ter)
c.1549G>T (p.Glu517Ter)
3g.133777107A>CCA354611122TFc.1931A>C (p.Glu644Ala)
c.662A>C
n.2925A>C
c.1799A>C (p.Glu600Ala)
c.1550A>C (p.Glu517Ala)
3g.133777107A>GCA354611124TFc.1931A>G (p.Glu644Gly)
c.662A>G
n.2925A>G
c.1799A>G (p.Glu600Gly)
c.1550A>G (p.Glu517Gly)
3g.133777107A>TCA354611126TFc.1931A>T (p.Glu644Val)
c.662A>T
n.2925A>T
c.1799A>T (p.Glu600Val)
c.1550A>T (p.Glu517Val)
3g.133777108A>CCA354611128TFc.1932A>C (p.Glu644Asp)
c.663A>C
n.2926A>C
c.1800A>C (p.Glu600Asp)
c.1551A>C (p.Glu517Asp)
3g.133777108A>GCA435815924TFc.1932A>G (p.Glu644=)
c.663A>G
n.2926A>G
c.1800A>G (p.Glu600=)
c.1551A>G (p.Glu517=)
3g.133777108A>TCA354611130TFc.1932A>T (p.Glu644Asp)
c.663A>T
n.2926A>T
c.1800A>T (p.Glu600Asp)
c.1551A>T (p.Glu517Asp)
3g.133777109A=CA1403124835TFc.1933A= (p.Thr645=)
c.664A=
n.2927A=
c.1801A= (p.Thr601=)
c.1552A= (p.Thr518=)
3g.133777109A>CCA83694359TFc.1933A>C (p.Thr645Pro)
c.664A>C
n.2927A>C
c.1801A>C (p.Thr601Pro)
c.1552A>C (p.Thr518Pro)
 dbSNP
3g.133777109A>GCA354611134TFc.1933A>G (p.Thr645Ala)
c.664A>G
n.2927A>G
c.1801A>G (p.Thr601Ala)
c.1552A>G (p.Thr518Ala)
 dbSNP
3g.133777109A>TCA354611136TFc.1933A>T (p.Thr645Ser)
c.664A>T
n.2927A>T
c.1801A>T (p.Thr601Ser)
c.1552A>T (p.Thr518Ser)
 dbSNP
3g.133777109_133777110delCA2667772268TFc.1933_1934del (p.Thr645GlnfsTer8)
c.664_665del
n.2927_2928del
c.1801_1802del (p.Thr601GlnfsTer8)
c.1552_1553del (p.Thr518GlnfsTer8)
 gnomAD v4
3g.133777110C>ACA354611138TFc.1934C>A (p.Thr645Asn)
c.665C>A
n.2928C>A
c.1802C>A (p.Thr601Asn)
c.1553C>A (p.Thr518Asn)
3g.133777110C>GCA354611142TFc.1934C>G (p.Thr645Ser)
c.665C>G
n.2928C>G
c.1802C>G (p.Thr601Ser)
c.1553C>G (p.Thr518Ser)
3g.133777110C>TCA354611140TFc.1934C>T (p.Thr645Ile)
c.665C>T
n.2928C>T
c.1802C>T (p.Thr601Ile)
c.1553C>T (p.Thr518Ile)
 COSMIC
3g.133777111C>ACA2625462TFc.1935C>A (p.Thr645=)
c.666C>A
n.2929C>A
c.1803C>A (p.Thr601=)
c.1554C>A (p.Thr518=)
 dbSNP ExAC
3g.133777111C=CA1403124838TFc.1935C= (p.Thr645=)
c.666C=
n.2929C=
c.1803C= (p.Thr601=)
c.1554C= (p.Thr518=)
3g.133777111C>GCA435815925TFc.1935C>G (p.Thr645=)
c.666C>G
n.2929C>G
c.1803C>G (p.Thr601=)
c.1554C>G (p.Thr518=)
3g.133777111C>TCA83694363TFc.1935C>T (p.Thr645=)
c.666C>T
n.2929C>T
c.1803C>T (p.Thr601=)
c.1554C>T (p.Thr518=)
 dbSNP gnomAD v4
3g.133777112A=CA1403124845TFc.1936A= (p.Lys646=)
c.667A=
n.2930A=
c.1804A= (p.Lys602=)
c.1555A= (p.Lys519=)
3g.133777112A>CCA354611147TFc.1936A>C (p.Lys646Gln)
c.667A>C
n.2930A>C
c.1804A>C (p.Lys602Gln)
c.1555A>C (p.Lys519Gln)
3g.133777112A>GCA122565TFc.1936A>G (p.Lys646Glu)
c.667A>G
n.2930A>G
c.1804A>G (p.Lys602Glu)
c.1555A>G (p.Lys519Glu)
 ClinVar dbSNP
3g.133777112A>TCA354611151TFc.1936A>T (p.Lys646Ter)
c.667A>T
n.2930A>T
c.1804A>T (p.Lys602Ter)
c.1555A>T (p.Lys519Ter)
3g.133777113A>CCA354611155TFc.1937A>C (p.Lys646Thr)
c.668A>C
n.2931A>C
c.1805A>C (p.Lys602Thr)
c.1556A>C (p.Lys519Thr)
3g.133777113A>GCA354611157TFc.1937A>G (p.Lys646Arg)
c.668A>G
n.2931A>G
c.1805A>G (p.Lys602Arg)
c.1556A>G (p.Lys519Arg)
3g.133777113A>TCA354611159TFc.1937A>T (p.Lys646Met)
c.668A>T
n.2931A>T
c.1805A>T (p.Lys602Met)
c.1556A>T (p.Lys519Met)
3g.133777114G>ACA435815926TFc.1938G>A (p.Lys646=)
c.669G>A
n.2932G>A
c.1806G>A (p.Lys602=)
c.1557G>A (p.Lys519=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.133777114G>CCA354611162TFc.1938G>C (p.Lys646Asn)
c.669G>C
n.2932G>C
c.1806G>C (p.Lys602Asn)
c.1557G>C (p.Lys519Asn)
3g.133777114G=CA1403124853TFc.1938G= (p.Lys646=)
c.669G=
n.2932G=
c.1806G= (p.Lys602=)
c.1557G= (p.Lys519=)
3g.133777114G>TCA354611164TFc.1938G>T (p.Lys646Asn)
c.669G>T
n.2932G>T
c.1806G>T (p.Lys602Asn)
c.1557G>T (p.Lys519Asn)
3g.133777115G>ACA354611166TFc.1939G>A (p.Asp647Asn)
c.670G>A
n.2933G>A
c.1807G>A (p.Asp603Asn)
c.1558G>A (p.Asp520Asn)
 COSMIC
3g.133777115G>CCA354611168TFc.1939G>C (p.Asp647His)
c.670G>C
n.2933G>C
c.1807G>C (p.Asp603His)
c.1558G>C (p.Asp520His)
3g.133777115G>TCA354611170TFc.1939G>T (p.Asp647Tyr)
c.670G>T
n.2933G>T
c.1807G>T (p.Asp603Tyr)
c.1558G>T (p.Asp520Tyr)
3g.133777116A>CCA354611177TFc.1940A>C (p.Asp647Ala)
c.671A>C
n.2934A>C
c.1808A>C (p.Asp603Ala)
c.1559A>C (p.Asp520Ala)
3g.133777116A>GCA354611173TFc.1940A>G (p.Asp647Gly)
c.671A>G
n.2934A>G
c.1808A>G (p.Asp603Gly)
c.1559A>G (p.Asp520Gly)
3g.133777116A>TCA354611175TFc.1940A>T (p.Asp647Val)
c.671A>T
n.2934A>T
c.1808A>T (p.Asp603Val)
c.1559A>T (p.Asp520Val)
 gnomAD v4
3g.133777117C>ACA354611180TFc.1941C>A (p.Asp647Glu)
c.672C>A
n.2935C>A
c.1809C>A (p.Asp603Glu)
c.1560C>A (p.Asp520Glu)
 dbSNP gnomAD v4
3g.133777117C=CA1403124860TFc.1941C= (p.Asp647=)
c.672C=
n.2935C=
c.1809C= (p.Asp603=)
c.1560C= (p.Asp520=)
3g.133777117C>GCA354611182TFc.1941C>G (p.Asp647Glu)
c.672C>G
n.2935C>G
c.1809C>G (p.Asp603Glu)
c.1560C>G (p.Asp520Glu)
3g.133777117C>TCA2625463TFc.1941C>T (p.Asp647=)
c.672C>T
n.2935C>T
c.1809C>T (p.Asp603=)
c.1560C>T (p.Asp520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133777118C>ACA354611186TFc.1942C>A (p.Leu648Ile)
c.673C>A
n.2936C>A
c.1810C>A (p.Leu604Ile)
c.1561C>A (p.Leu521Ile)
3g.133777118C=CA1403124864TFc.1942C= (p.Leu648=)
c.673C=
n.2936C=
c.1810C= (p.Leu604=)
c.1561C= (p.Leu521=)
3g.133777118C>GCA354611188TFc.1942C>G (p.Leu648Val)
c.673C>G
n.2936C>G
c.1810C>G (p.Leu604Val)
c.1561C>G (p.Leu521Val)
3g.133777118C>TCA354611190TFc.1942C>T (p.Leu648Phe)
c.673C>T
n.2936C>T
c.1810C>T (p.Leu604Phe)
c.1561C>T (p.Leu521Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133777119T>ACA354611192TFc.1943T>A (p.Leu648His)
c.674T>A
n.2937T>A
c.1811T>A (p.Leu604His)
c.1562T>A (p.Leu521His)
3g.133777119T>CCA354611194TFc.1943T>C (p.Leu648Pro)
c.674T>C
n.2937T>C
c.1811T>C (p.Leu604Pro)
c.1562T>C (p.Leu521Pro)
3g.133777119T>GCA354611196TFc.1943T>G (p.Leu648Arg)
c.674T>G
n.2937T>G
c.1811T>G (p.Leu604Arg)
c.1562T>G (p.Leu521Arg)
3g.133777120T>ACA435815927TFc.1944T>A (p.Leu648=)
c.675T>A
n.2938T>A
c.1812T>A (p.Leu604=)
c.1563T>A (p.Leu521=)
3g.133777120T>CCA435815928TFc.1944T>C (p.Leu648=)
c.675T>C
n.2938T>C
c.1812T>C (p.Leu604=)
c.1563T>C (p.Leu521=)
3g.133777120T>GCA435815929TFc.1944T>G (p.Leu648=)
c.675T>G
n.2938T>G
c.1812T>G (p.Leu604=)
c.1563T>G (p.Leu521=)
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)

Number of alleles fetched