Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133775525G>ACA354610389TFc.1780G>A (p.Ala594Thr)
c.511G>A
n.2774G>A
c.1648G>A (p.Ala550Thr)
c.1399G>A (p.Ala467Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133775525G>CCA354610390TFc.1780G>C (p.Ala594Pro)
c.511G>C
n.2774G>C
c.1648G>C (p.Ala550Pro)
c.1399G>C (p.Ala467Pro)
3g.133775525G=CA1403122760TFc.1780G= (p.Ala594=)
c.511G=
n.2774G=
c.1648G= (p.Ala550=)
c.1399G= (p.Ala467=)
3g.133775525G>TCA354610391TFc.1780G>T (p.Ala594Ser)
c.511G>T
n.2774G>T
c.1648G>T (p.Ala550Ser)
c.1399G>T (p.Ala467Ser)
3g.133775526C>ACA354610392TFc.1781C>A (p.Ala594Glu)
c.512C>A
n.2775C>A
c.1649C>A (p.Ala550Glu)
c.1400C>A (p.Ala467Glu)
3g.133775526C=CA1403122762TFc.1781C= (p.Ala594=)
c.512C=
n.2775C=
c.1649C= (p.Ala550=)
c.1400C= (p.Ala467=)
3g.133775526C>GCA354610394TFc.1781C>G (p.Ala594Gly)
c.512C>G
n.2775C>G
c.1649C>G (p.Ala550Gly)
c.1400C>G (p.Ala467Gly)
3g.133775526C>TCA354610393TFc.1781C>T (p.Ala594Val)
c.512C>T
n.2775C>T
c.1649C>T (p.Ala550Val)
c.1400C>T (p.Ala467Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133775527G>ACA2625411TFc.1782G>A (p.Ala594=)
c.513G>A
n.2776G>A
c.1650G>A (p.Ala550=)
c.1401G>A (p.Ala467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133775527G>CCA435815844TFc.1782G>C (p.Ala594=)
c.513G>C
n.2776G>C
c.1650G>C (p.Ala550=)
c.1401G>C (p.Ala467=)
 ClinVar gnomAD v4
3g.133775527G=CA1403122767TFc.1782G= (p.Ala594=)
c.513G=
n.2776G=
c.1650G= (p.Ala550=)
c.1401G= (p.Ala467=)
3g.133775527G>TCA2625410TFc.1782G>T (p.Ala594=)
c.513G>T
n.2776G>T
c.1650G>T (p.Ala550=)
c.1401G>T (p.Ala467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775528A>CCA354610395TFc.1783A>C (p.Asn595His)
c.514A>C
n.2777A>C
c.1651A>C (p.Asn551His)
c.1402A>C (p.Asn468His)
3g.133775528A>GCA354610397TFc.1783A>G (p.Asn595Asp)
c.514A>G
n.2777A>G
c.1651A>G (p.Asn551Asp)
c.1402A>G (p.Asn468Asp)
3g.133775528A>TCA354610396TFc.1783A>T (p.Asn595Tyr)
c.514A>T
n.2777A>T
c.1651A>T (p.Asn551Tyr)
c.1402A>T (p.Asn468Tyr)
3g.133775529A=CA1403122773TFc.1784A= (p.Asn595=)
c.515A=
n.2778A=
c.1652A= (p.Asn551=)
c.1403A= (p.Asn468=)
3g.133775529A>CCA354610398TFc.1784A>C (p.Asn595Thr)
c.515A>C
n.2778A>C
c.1652A>C (p.Asn551Thr)
c.1403A>C (p.Asn468Thr)
 dbSNP
3g.133775529A>GCA354610400TFc.1784A>G (p.Asn595Ser)
c.515A>G
n.2778A>G
c.1652A>G (p.Asn551Ser)
c.1403A>G (p.Asn468Ser)
3g.133775529A>TCA354610399TFc.1784A>T (p.Asn595Ile)
c.515A>T
n.2778A>T
c.1652A>T (p.Asn551Ile)
c.1403A>T (p.Asn468Ile)
3g.133775530C>ACA354610401TFc.1785C>A (p.Asn595Lys)
c.516C>A
n.2779C>A
c.1653C>A (p.Asn551Lys)
c.1404C>A (p.Asn468Lys)
 gnomAD v4
3g.133775530C=CA1403122782TFc.1785C= (p.Asn595=)
c.516C=
n.2779C=
c.1653C= (p.Asn551=)
c.1404C= (p.Asn468=)
3g.133775530C>GCA354610402TFc.1785C>G (p.Asn595Lys)
c.516C>G
n.2779C>G
c.1653C>G (p.Asn551Lys)
c.1404C>G (p.Asn468Lys)
3g.133775530C>TCA2625412TFc.1785C>T (p.Asn595=)
c.516C>T
n.2779C>T
c.1653C>T (p.Asn551=)
c.1404C>T (p.Asn468=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775531T>ACA354610403TFc.1786T>A (p.Cys596Ser)
c.517T>A
n.2780T>A
c.1654T>A (p.Cys552Ser)
c.1405T>A (p.Cys469Ser)
3g.133775531T>CCA354610405TFc.1786T>C (p.Cys596Arg)
c.517T>C
n.2780T>C
c.1654T>C (p.Cys552Arg)
c.1405T>C (p.Cys469Arg)
3g.133775531T>GCA354610404TFc.1786T>G (p.Cys596Gly)
c.517T>G
n.2780T>G
c.1654T>G (p.Cys552Gly)
c.1405T>G (p.Cys469Gly)
3g.133775532G>ACA354610406TFc.1787G>A (p.Cys596Tyr)
c.518G>A
n.2781G>A
c.1655G>A (p.Cys552Tyr)
c.1406G>A (p.Cys469Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.133775532G>CCA354610408TFc.1787G>C (p.Cys596Ser)
c.518G>C
n.2781G>C
c.1655G>C (p.Cys552Ser)
c.1406G>C (p.Cys469Ser)
3g.133775532G=CA1403122791TFc.1787G= (p.Cys596=)
c.518G=
n.2781G=
c.1655G= (p.Cys552=)
c.1406G= (p.Cys469=)
3g.133775532G>TCA354610407TFc.1787G>T (p.Cys596Phe)
c.518G>T
n.2781G>T
c.1655G>T (p.Cys552Phe)
c.1406G>T (p.Cys469Phe)
3g.133775533C>ACA354610409TFc.1788C>A (p.Cys596Ter)
c.519C>A
n.2782C>A
c.1656C>A (p.Cys552Ter)
c.1407C>A (p.Cys469Ter)
3g.133775533C>GCA354610410TFc.1788C>G (p.Cys596Trp)
c.519C>G
n.2782C>G
c.1656C>G (p.Cys552Trp)
c.1407C>G (p.Cys469Trp)
3g.133775533C>TCA435815845TFc.1788C>T (p.Cys596=)
c.519C>T
n.2782C>T
c.1656C>T (p.Cys552=)
c.1407C>T (p.Cys469=)
 ClinVar
3g.133775534C>ACA354610411TFc.1789C>A (p.His597Asn)
c.520C>A
n.2783C>A
c.1657C>A (p.His553Asn)
c.1408C>A (p.His470Asn)
3g.133775534C>GCA354610412TFc.1789C>G (p.His597Asp)
c.520C>G
n.2783C>G
c.1657C>G (p.His553Asp)
c.1408C>G (p.His470Asp)
3g.133775534C>TCA354610413TFc.1789C>T (p.His597Tyr)
c.520C>T
n.2783C>T
c.1657C>T (p.His553Tyr)
c.1408C>T (p.His470Tyr)
3g.133775535A=CA1403122795TFc.1790A= (p.His597=)
c.521A=
n.2784A=
c.1658A= (p.His553=)
c.1409A= (p.His470=)
3g.133775535A>CCA354610414TFc.1790A>C (p.His597Pro)
c.521A>C
n.2784A>C
c.1658A>C (p.His553Pro)
c.1409A>C (p.His470Pro)
 dbSNP
3g.133775535A>GCA354610415TFc.1790A>G (p.His597Arg)
c.521A>G
n.2784A>G
c.1658A>G (p.His553Arg)
c.1409A>G (p.His470Arg)
3g.133775535A>TCA354610416TFc.1790A>T (p.His597Leu)
c.521A>T
n.2784A>T
c.1658A>T (p.His553Leu)
c.1409A>T (p.His470Leu)
3g.133775536C>ACA354610417TFc.1791C>A (p.His597Gln)
c.522C>A
n.2785C>A
c.1659C>A (p.His553Gln)
c.1410C>A (p.His470Gln)
 gnomAD v4
3g.133775536C=CA1403122798TFc.1791C= (p.His597=)
c.522C=
n.2785C=
c.1659C= (p.His553=)
c.1410C= (p.His470=)
3g.133775536C>GCA354610418TFc.1791C>G (p.His597Gln)
c.522C>G
n.2785C>G
c.1659C>G (p.His553Gln)
c.1410C>G (p.His470Gln)
3g.133775536C>TCA2625413TFc.1791C>T (p.His597=)
c.522C>T
n.2785C>T
c.1659C>T (p.His553=)
c.1410C>T (p.His470=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775537C>ACA354610420TFc.1792C>A (p.Leu598Met)
c.523C>A
n.2786C>A
c.1660C>A (p.Leu554Met)
c.1411C>A (p.Leu471Met)
3g.133775537C>GCA354610419TFc.1792C>G (p.Leu598Val)
c.523C>G
n.2786C>G
c.1660C>G (p.Leu554Val)
c.1411C>G (p.Leu471Val)
3g.133775537C>TCA435815846TFc.1792C>T (p.Leu598=)
c.523C>T
n.2786C>T
c.1660C>T (p.Leu554=)
c.1411C>T (p.Leu471=)
3g.133775538T>ACA354610421TFc.1793T>A (p.Leu598Gln)
c.524T>A
n.2787T>A
c.1661T>A (p.Leu554Gln)
c.1412T>A (p.Leu471Gln)
3g.133775538T>CCA354610422TFc.1793T>C (p.Leu598Pro)
c.524T>C
n.2787T>C
c.1661T>C (p.Leu554Pro)
c.1412T>C (p.Leu471Pro)
 dbSNP
3g.133775538T>GCA354610423TFc.1793T>G (p.Leu598Arg)
c.524T>G
n.2787T>G
c.1661T>G (p.Leu554Arg)
c.1412T>G (p.Leu471Arg)
3g.133775539_133775554dupCA2667772098TFc.1794_1809dup (p.His604GlyfsTer14)
c.525_540dup
n.2788_2803dup
c.1662_1677dup (p.His560GlyfsTer14)
c.1413_1428dup (p.His477GlyfsTer14)
 gnomAD v4
3g.133775539G>ACA435815847TFc.1794G>A (p.Leu598=)
c.525G>A
n.2788G>A
c.1662G>A (p.Leu554=)
c.1413G>A (p.Leu471=)
3g.133775539G>CCA435815848TFc.1794G>C (p.Leu598=)
c.525G>C
n.2788G>C
c.1662G>C (p.Leu554=)
c.1413G>C (p.Leu471=)
3g.133775539G>TCA435815849TFc.1794G>T (p.Leu598=)
c.525G>T
n.2788G>T
c.1662G>T (p.Leu554=)
c.1413G>T (p.Leu471=)
3g.133775540G>ACA354610424TFc.1795G>A (p.Ala599Thr)
c.526G>A
n.2789G>A
c.1663G>A (p.Ala555Thr)
c.1414G>A (p.Ala472Thr)
3g.133775540G>CCA354610425TFc.1795G>C (p.Ala599Pro)
c.526G>C
n.2789G>C
c.1663G>C (p.Ala555Pro)
c.1414G>C (p.Ala472Pro)
 gnomAD v4
3g.133775540G>TCA354610426TFc.1795G>T (p.Ala599Ser)
c.526G>T
n.2789G>T
c.1663G>T (p.Ala555Ser)
c.1414G>T (p.Ala472Ser)
3g.133775541C>ACA354610427TFc.1796C>A (p.Ala599Asp)
c.527C>A
n.2790C>A
c.1664C>A (p.Ala555Asp)
c.1415C>A (p.Ala472Asp)
3g.133775541C>GCA354610428TFc.1796C>G (p.Ala599Gly)
c.527C>G
n.2790C>G
c.1664C>G (p.Ala555Gly)
c.1415C>G (p.Ala472Gly)
3g.133775541C>TCA354610429TFc.1796C>T (p.Ala599Val)
c.527C>T
n.2790C>T
c.1664C>T (p.Ala555Val)
c.1415C>T (p.Ala472Val)
3g.133775542C>ACA435815850TFc.1797C>A (p.Ala599=)
c.528C>A
n.2791C>A
c.1665C>A (p.Ala555=)
c.1416C>A (p.Ala472=)
 gnomAD v4
3g.133775542C=CA1403122806TFc.1797C= (p.Ala599=)
c.528C=
n.2791C=
c.1665C= (p.Ala555=)
c.1416C= (p.Ala472=)
3g.133775542C>GCA435815851TFc.1797C>G (p.Ala599=)
c.528C>G
n.2791C>G
c.1665C>G (p.Ala555=)
c.1416C>G (p.Ala472=)
3g.133775542C>TCA435815852TFc.1797C>T (p.Ala599=)
c.528C>T
n.2791C>T
c.1665C>T (p.Ala555=)
c.1416C>T (p.Ala472=)
 dbSNP gnomAD v2 gnomAD v4
3g.133775543A>CCA435815853TFc.1798A>C (p.Arg600=)
c.529A>C
n.2792A>C
c.1666A>C (p.Arg556=)
c.1417A>C (p.Arg473=)
3g.133775543A>GCA354610430TFc.1798A>G (p.Arg600Gly)
c.529A>G
n.2792A>G
c.1666A>G (p.Arg556Gly)
c.1417A>G (p.Arg473Gly)
3g.133775543A>TCA354610431TFc.1798A>T (p.Arg600Ter)
c.529A>T
n.2792A>T
c.1666A>T (p.Arg556Ter)
c.1417A>T (p.Arg473Ter)
3g.133775544G>ACA2625414TFc.1799G>A (p.Arg600Lys)
c.530G>A
n.2793G>A
c.1667G>A (p.Arg556Lys)
c.1418G>A (p.Arg473Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133775544G>CCA354610433TFc.1799G>C (p.Arg600Thr)
c.530G>C
n.2793G>C
c.1667G>C (p.Arg556Thr)
c.1418G>C (p.Arg473Thr)
3g.133775544G=CA1403122811TFc.1799G= (p.Arg600=)
c.530G=
n.2793G=
c.1667G= (p.Arg556=)
c.1418G= (p.Arg473=)
3g.133775544G>TCA354610432TFc.1799G>T (p.Arg600Ile)
c.530G>T
n.2793G>T
c.1667G>T (p.Arg556Ile)
c.1418G>T (p.Arg473Ile)
3g.133775545A>CCA354610434TFc.1800A>C (p.Arg600Ser)
c.531A>C
n.2794A>C
c.1668A>C (p.Arg556Ser)
c.1419A>C (p.Arg473Ser)
3g.133775545A>GCA435815854TFc.1800A>G (p.Arg600=)
c.531A>G
n.2794A>G
c.1668A>G (p.Arg556=)
c.1419A>G (p.Arg473=)
3g.133775545A>TCA354610435TFc.1800A>T (p.Arg600Ser)
c.531A>T
n.2794A>T
c.1668A>T (p.Arg556Ser)
c.1419A>T (p.Arg473Ser)
3g.133775546G>ACA354610436TFc.1801G>A (p.Ala601Thr)
c.532G>A
n.2795G>A
c.1669G>A (p.Ala557Thr)
c.1420G>A (p.Ala474Thr)
 gnomAD v4
3g.133775546G>CCA354610437TFc.1801G>C (p.Ala601Pro)
c.532G>C
n.2795G>C
c.1669G>C (p.Ala557Pro)
c.1420G>C (p.Ala474Pro)
3g.133775546G>TCA354610438TFc.1801G>T (p.Ala601Ser)
c.532G>T
n.2795G>T
c.1669G>T (p.Ala557Ser)
c.1420G>T (p.Ala474Ser)
3g.133775547C>ACA354610439TFc.1802C>A (p.Ala601Asp)
c.533C>A
n.2796C>A
c.1670C>A (p.Ala557Asp)
c.1421C>A (p.Ala474Asp)
3g.133775547C=CA1403122817TFc.1802C= (p.Ala601=)
c.533C=
n.2796C=
c.1670C= (p.Ala557=)
c.1421C= (p.Ala474=)
3g.133775547C>GCA354610440TFc.1802C>G (p.Ala601Gly)
c.533C>G
n.2796C>G
c.1670C>G (p.Ala557Gly)
c.1421C>G (p.Ala474Gly)
 dbSNP gnomAD v4
3g.133775547C>TCA354610441TFc.1802C>T (p.Ala601Val)
c.533C>T
n.2796C>T
c.1670C>T (p.Ala557Val)
c.1421C>T (p.Ala474Val)
 gnomAD v4
3g.133775548C>ACA435815855TFc.1803C>A (p.Ala601=)
c.534C>A
n.2797C>A
c.1671C>A (p.Ala557=)
c.1422C>A (p.Ala474=)
3g.133775548C>GCA435815857TFc.1803C>G (p.Ala601=)
c.534C>G
n.2797C>G
c.1671C>G (p.Ala557=)
c.1422C>G (p.Ala474=)
3g.133775548C>TCA435815856TFc.1803C>T (p.Ala601=)
c.534C>T
n.2797C>T
c.1671C>T (p.Ala557=)
c.1422C>T (p.Ala474=)
 ClinVar gnomAD v4 COSMIC
3g.133775549C>ACA354610442TFc.1804C>A (p.Pro602Thr)
c.535C>A
n.2798C>A
c.1672C>A (p.Pro558Thr)
c.1423C>A (p.Pro475Thr)
3g.133775549C>GCA354610443TFc.1804C>G (p.Pro602Ala)
c.535C>G
n.2798C>G
c.1672C>G (p.Pro558Ala)
c.1423C>G (p.Pro475Ala)
3g.133775549C>TCA354610444TFc.1804C>T (p.Pro602Ser)
c.535C>T
n.2798C>T
c.1672C>T (p.Pro558Ser)
c.1423C>T (p.Pro475Ser)
3g.133775550C>ACA10617300TFc.1805C>A (p.Pro602Gln)
c.536C>A
n.2799C>A
c.1673C>A (p.Pro558Gln)
c.1424C>A (p.Pro475Gln)
 ClinVar dbSNP
3g.133775550C=CA1403122827TFc.1805C= (p.Pro602=)
c.536C=
n.2799C=
c.1673C= (p.Pro558=)
c.1424C= (p.Pro475=)
3g.133775550C>GCA354610445TFc.1805C>G (p.Pro602Arg)
c.536C>G
n.2799C>G
c.1673C>G (p.Pro558Arg)
c.1424C>G (p.Pro475Arg)
3g.133775550C>TCA2625415TFc.1805C>T (p.Pro602Leu)
c.536C>T
n.2799C>T
c.1673C>T (p.Pro558Leu)
c.1424C>T (p.Pro475Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775551G>ACA2625416TFc.1806G>A (p.Pro602=)
c.537G>A
n.2800G>A
c.1674G>A (p.Pro558=)
c.1425G>A (p.Pro475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133775551G>CCA435815858TFc.1806G>C (p.Pro602=)
c.537G>C
n.2800G>C
c.1674G>C (p.Pro558=)
c.1425G>C (p.Pro475=)
3g.133775551G=CA1403122841TFc.1806G= (p.Pro602=)
c.537G=
n.2800G=
c.1674G= (p.Pro558=)
c.1425G= (p.Pro475=)
3g.133775551G>TCA435815859TFc.1806G>T (p.Pro602=)
c.537G>T
n.2800G>T
c.1674G>T (p.Pro558=)
c.1425G>T (p.Pro475=)
3g.133775552A>CCA354610446TFc.1807A>C (p.Asn603His)
c.538A>C
n.2801A>C
c.1675A>C (p.Asn559His)
c.1426A>C (p.Asn476His)
3g.133775552A>GCA354610447TFc.1807A>G (p.Asn603Asp)
c.538A>G
n.2801A>G
c.1675A>G (p.Asn559Asp)
c.1426A>G (p.Asn476Asp)
 gnomAD v4
3g.133775552A>TCA354610448TFc.1807A>T (p.Asn603Tyr)
c.538A>T
n.2801A>T
c.1675A>T (p.Asn559Tyr)
c.1426A>T (p.Asn476Tyr)
3g.133775553A>CCA354610449TFc.1808A>C (p.Asn603Thr)
c.539A>C
n.2802A>C
c.1676A>C (p.Asn559Thr)
c.1427A>C (p.Asn476Thr)
3g.133775553A>GCA354610450TFc.1808A>G (p.Asn603Ser)
c.539A>G
n.2802A>G
c.1676A>G (p.Asn559Ser)
c.1427A>G (p.Asn476Ser)
3g.133775553A>TCA354610451TFc.1808A>T (p.Asn603Ile)
c.539A>T
n.2802A>T
c.1676A>T (p.Asn559Ile)
c.1427A>T (p.Asn476Ile)
3g.133775554T>ACA354610452TFc.1809T>A (p.Asn603Lys)
c.540T>A
n.2803T>A
c.1677T>A (p.Asn559Lys)
c.1428T>A (p.Asn476Lys)
3g.133775554T>CCA435815860TFc.1809T>C (p.Asn603=)
c.540T>C
n.2803T>C
c.1677T>C (p.Asn559=)
c.1428T>C (p.Asn476=)
3g.133775554T>GCA354610453TFc.1809T>G (p.Asn603Lys)
c.540T>G
n.2803T>G
c.1677T>G (p.Asn559Lys)
c.1428T>G (p.Asn476Lys)
3g.133775555C>ACA354610454TFc.1810C>A (p.His604Asn)
c.541C>A
n.2804C>A
c.1678C>A (p.His560Asn)
c.1429C>A (p.His477Asn)
3g.133775555C>GCA354610455TFc.1810C>G (p.His604Asp)
c.541C>G
n.2804C>G
c.1678C>G (p.His560Asp)
c.1429C>G (p.His477Asp)
3g.133775555C>TCA354610456TFc.1810C>T (p.His604Tyr)
c.541C>T
n.2804C>T
c.1678C>T (p.His560Tyr)
c.1429C>T (p.His477Tyr)
3g.133775556A>CCA354610458TFc.1811A>C (p.His604Pro)
c.542A>C
n.2805A>C
c.1679A>C (p.His560Pro)
c.1430A>C (p.His477Pro)
3g.133775556A>GCA354610459TFc.1811A>G (p.His604Arg)
c.542A>G
n.2805A>G
c.1679A>G (p.His560Arg)
c.1430A>G (p.His477Arg)
3g.133775556A>TCA354610457TFc.1811A>T (p.His604Leu)
c.542A>T
n.2805A>T
c.1679A>T (p.His560Leu)
c.1430A>T (p.His477Leu)
3g.133775557C>ACA354610461TFc.1812C>A (p.His604Gln)
c.543C>A
n.2806C>A
c.1680C>A (p.His560Gln)
c.1431C>A (p.His477Gln)
3g.133775557C=CA1403122846TFc.1812C= (p.His604=)
c.543C=
n.2806C=
c.1680C= (p.His560=)
c.1431C= (p.His477=)
3g.133775557C>GCA354610460TFc.1812C>G (p.His604Gln)
c.543C>G
n.2806C>G
c.1680C>G (p.His560Gln)
c.1431C>G (p.His477Gln)
3g.133775557C>TCA2625417TFc.1812C>T (p.His604=)
c.543C>T
n.2806C>T
c.1680C>T (p.His560=)
c.1431C>T (p.His477=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775558G>ACA354610462TFc.1813G>A (p.Ala605Thr)
c.544G>A
n.2807G>A
c.1681G>A (p.Ala561Thr)
c.1432G>A (p.Ala478Thr)
 dbSNP
3g.133775558G>CCA354610463TFc.1813G>C (p.Ala605Pro)
c.544G>C
n.2807G>C
c.1681G>C (p.Ala561Pro)
c.1432G>C (p.Ala478Pro)
3g.133775558G=CA1403122852TFc.1813G= (p.Ala605=)
c.544G=
n.2807G=
c.1681G= (p.Ala561=)
c.1432G= (p.Ala478=)
3g.133775558G>TCA354610464TFc.1813G>T (p.Ala605Ser)
c.544G>T
n.2807G>T
c.1681G>T (p.Ala561Ser)
c.1432G>T (p.Ala478Ser)
3g.133775559C>ACA354610467TFc.1814C>A (p.Ala605Asp)
c.545C>A
n.2808C>A
c.1682C>A (p.Ala561Asp)
c.1433C>A (p.Ala478Asp)
 COSMIC
3g.133775559C>GCA354610466TFc.1814C>G (p.Ala605Gly)
c.545C>G
n.2808C>G
c.1682C>G (p.Ala561Gly)
c.1433C>G (p.Ala478Gly)
3g.133775559C>TCA354610465TFc.1814C>T (p.Ala605Val)
c.545C>T
n.2808C>T
c.1682C>T (p.Ala561Val)
c.1433C>T (p.Ala478Val)
3g.133775560T>ACA435815861TFc.1815T>A (p.Ala605=)
c.546T>A
n.2809T>A
c.1683T>A (p.Ala561=)
c.1434T>A (p.Ala478=)
3g.133775560T>CCA435815863TFc.1815T>C (p.Ala605=)
c.546T>C
n.2809T>C
c.1683T>C (p.Ala561=)
c.1434T>C (p.Ala478=)
3g.133775560T>GCA435815862TFc.1815T>G (p.Ala605=)
c.546T>G
n.2809T>G
c.1683T>G (p.Ala561=)
c.1434T>G (p.Ala478=)
3g.133775561G>ACA354610468TFc.1816G>A (p.Val606Met)
c.547G>A
n.2810G>A
c.1684G>A (p.Val562Met)
c.1435G>A (p.Val479Met)
3g.133775561G>CCA354610469TFc.1816G>C (p.Val606Leu)
c.547G>C
n.2810G>C
c.1684G>C (p.Val562Leu)
c.1435G>C (p.Val479Leu)
3g.133775561G>TCA354610470TFc.1816G>T (p.Val606Leu)
c.547G>T
n.2810G>T
c.1684G>T (p.Val562Leu)
c.1435G>T (p.Val479Leu)
3g.133775562T>ACA354610471TFc.1817T>A (p.Val606Glu)
c.548T>A
n.2811T>A
c.1685T>A (p.Val562Glu)
c.1436T>A (p.Val479Glu)
3g.133775562T>CCA354610472TFc.1817T>C (p.Val606Ala)
c.548T>C
n.2811T>C
c.1685T>C (p.Val562Ala)
c.1436T>C (p.Val479Ala)
 dbSNP gnomAD v4
3g.133775562T>GCA354610473TFc.1817T>G (p.Val606Gly)
c.548T>G
n.2811T>G
c.1685T>G (p.Val562Gly)
c.1436T>G (p.Val479Gly)
3g.133775563G>ACA435815864TFc.1818G>A (p.Val606=)
c.549G>A
n.2812G>A
c.1686G>A (p.Val562=)
c.1437G>A (p.Val479=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.133775563G>CCA435815865TFc.1818G>C (p.Val606=)
c.549G>C
n.2812G>C
c.1686G>C (p.Val562=)
c.1437G>C (p.Val479=)
3g.133775563G=CA1403122857TFc.1818G= (p.Val606=)
c.549G=
n.2812G=
c.1686G= (p.Val562=)
c.1437G= (p.Val479=)
3g.133775563G>TCA435815866TFc.1818G>T (p.Val606=)
c.549G>T
n.2812G>T
c.1686G>T (p.Val562=)
c.1437G>T (p.Val479=)
3g.133775564G>ACA354610474TFc.1819G>A (p.Val607Ile)
c.550G>A
n.2813G>A
c.1687G>A (p.Val563Ile)
c.1438G>A (p.Val480Ile)
3g.133775564G>CCA354610476TFc.1819G>C (p.Val607Leu)
c.550G>C
n.2813G>C
c.1687G>C (p.Val563Leu)
c.1438G>C (p.Val480Leu)
 gnomAD v4
3g.133775564G>TCA354610475TFc.1819G>T (p.Val607Phe)
c.550G>T
n.2813G>T
c.1687G>T (p.Val563Phe)
c.1438G>T (p.Val480Phe)
3g.133775565T>ACA354610477TFc.1820T>A (p.Val607Asp)
c.551T>A
n.2814T>A
c.1688T>A (p.Val563Asp)
c.1439T>A (p.Val480Asp)
3g.133775565T>CCA354610478TFc.1820T>C (p.Val607Ala)
c.551T>C
n.2814T>C
c.1688T>C (p.Val563Ala)
c.1439T>C (p.Val480Ala)
3g.133775565T>GCA354610479TFc.1820T>G (p.Val607Gly)
c.551T>G
n.2814T>G
c.1688T>G (p.Val563Gly)
c.1439T>G (p.Val480Gly)
3g.133775566C>ACA2625418TFc.1821C>A (p.Val607=)
c.552C>A
n.2815C>A
c.1689C>A (p.Val563=)
c.1440C>A (p.Val480=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133775566C=CA1403122872TFc.1821C= (p.Val607=)
c.552C=
n.2815C=
c.1689C= (p.Val563=)
c.1440C= (p.Val480=)
3g.133775566C>GCA435815867TFc.1821C>G (p.Val607=)
c.552C>G
n.2815C>G
c.1689C>G (p.Val563=)
c.1440C>G (p.Val480=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.133775566C>TCA435815868TFc.1821C>T (p.Val607=)
c.552C>T
n.2815C>T
c.1689C>T (p.Val563=)
c.1440C>T (p.Val480=)
3g.133775567A>CCA354610480TFc.1822A>C (p.Thr608Pro)
c.553A>C
n.2816A>C
c.1690A>C (p.Thr564Pro)
c.1441A>C (p.Thr481Pro)
3g.133775567A>GCA354610481TFc.1822A>G (p.Thr608Ala)
c.553A>G
n.2816A>G
c.1690A>G (p.Thr564Ala)
c.1441A>G (p.Thr481Ala)
3g.133775567A>TCA354610482TFc.1822A>T (p.Thr608Ser)
c.553A>T
n.2816A>T
c.1690A>T (p.Thr564Ser)
c.1441A>T (p.Thr481Ser)
3g.133775568C>ACA354610483TFc.1823C>A (p.Thr608Lys)
c.554C>A
n.2817C>A
c.1691C>A (p.Thr564Lys)
c.1442C>A (p.Thr481Lys)
3g.133775568C>GCA354610484TFc.1823C>G (p.Thr608Arg)
c.554C>G
n.2817C>G
c.1691C>G (p.Thr564Arg)
c.1442C>G (p.Thr481Arg)
3g.133775568C>TCA354610485TFc.1823C>T (p.Thr608Ile)
c.554C>T
n.2817C>T
c.1691C>T (p.Thr564Ile)
c.1442C>T (p.Thr481Ile)
3g.133775569A>CCA435815869TFc.1824A>C (p.Thr608=)
c.555A>C
n.2818A>C
c.1692A>C (p.Thr564=)
c.1443A>C (p.Thr481=)
3g.133775569A>GCA435815870TFc.1824A>G (p.Thr608=)
c.555A>G
n.2818A>G
c.1692A>G (p.Thr564=)
c.1443A>G (p.Thr481=)
3g.133775569A>TCA435815871TFc.1824A>T (p.Thr608=)
c.555A>T
n.2818A>T
c.1692A>T (p.Thr564=)
c.1443A>T (p.Thr481=)
3g.133775570C>ACA2625419TFc.1825C>A (p.Arg609=)
c.556C>A
n.2819C>A
c.1693C>A (p.Arg565=)
c.1444C>A (p.Arg482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775570C=CA1403122884TFc.1825C= (p.Arg609=)
c.556C=
n.2819C=
c.1693C= (p.Arg565=)
c.1444C= (p.Arg482=)
3g.133775570C>GCA354610486TFc.1825C>G (p.Arg609Gly)
c.556C>G
n.2819C>G
c.1693C>G (p.Arg565Gly)
c.1444C>G (p.Arg482Gly)
3g.133775570C>TCA211198TFc.1825C>T (p.Arg609Trp)
c.556C>T
n.2819C>T
c.1693C>T (p.Arg565Trp)
c.1444C>T (p.Arg482Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.133775571G>ACA354610487TFc.1826G>A (p.Arg609Gln)
c.557G>A
n.2820G>A
c.1694G>A (p.Arg565Gln)
c.1445G>A (p.Arg482Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133775571G>CCA354610488TFc.1826G>C (p.Arg609Pro)
c.557G>C
n.2820G>C
c.1694G>C (p.Arg565Pro)
c.1445G>C (p.Arg482Pro)
3g.133775571G=CA1403122896TFc.1826G= (p.Arg609=)
c.557G=
n.2820G=
c.1694G= (p.Arg565=)
c.1445G= (p.Arg482=)
3g.133775571G>TCA354610489TFc.1826G>T (p.Arg609Leu)
c.557G>T
n.2820G>T
c.1694G>T (p.Arg565Leu)
c.1445G>T (p.Arg482Leu)
3g.133775572G>ACA83693015TFc.1827G>A (p.Arg609=)
c.558G>A
n.2821G>A
c.1695G>A (p.Arg565=)
c.1446G>A (p.Arg482=)
 dbSNP
3g.133775572G>CCA435815872TFc.1827G>C (p.Arg609=)
c.558G>C
n.2821G>C
c.1695G>C (p.Arg565=)
c.1446G>C (p.Arg482=)
3g.133775572G=CA1403122902TFc.1827G= (p.Arg609=)
c.558G=
n.2821G=
c.1695G= (p.Arg565=)
c.1446G= (p.Arg482=)
3g.133775572G>TCA435815873TFc.1827G>T (p.Arg609=)
c.558G>T
n.2821G>T
c.1695G>T (p.Arg565=)
c.1446G>T (p.Arg482=)
3g.133775573A>CCA354610490TFc.1828A>C (p.Lys610Gln)
c.559A>C
n.2822A>C
c.1696A>C (p.Lys566Gln)
c.1447A>C (p.Lys483Gln)
3g.133775573A>GCA354610491TFc.1828A>G (p.Lys610Glu)
c.559A>G
n.2822A>G
c.1696A>G (p.Lys566Glu)
c.1447A>G (p.Lys483Glu)
 gnomAD v4
3g.133775573A>TCA354610492TFc.1828A>T (p.Lys610Ter)
c.559A>T
n.2822A>T
c.1696A>T (p.Lys566Ter)
c.1447A>T (p.Lys483Ter)
3g.133775574A>CCA354610493TFc.1829A>C (p.Lys610Thr)
c.560A>C
n.2823A>C
c.1697A>C (p.Lys566Thr)
c.1448A>C (p.Lys483Thr)
3g.133775574A>GCA354610494TFc.1829A>G (p.Lys610Arg)
c.560A>G
n.2823A>G
c.1697A>G (p.Lys566Arg)
c.1448A>G (p.Lys483Arg)
3g.133775574A>TCA354610495TFc.1829A>T (p.Lys610Ile)
c.560A>T
n.2823A>T
c.1697A>T (p.Lys566Ile)
c.1448A>T (p.Lys483Ile)
3g.133775575A=CA1403122905TFc.1830A= (p.Lys610=)
c.561A=
n.2824A=
c.1698A= (p.Lys566=)
c.1449A= (p.Lys483=)
3g.133775575A>CCA354610496TFc.1830A>C (p.Lys610Asn)
c.561A>C
n.2824A>C
c.1698A>C (p.Lys566Asn)
c.1449A>C (p.Lys483Asn)
3g.133775575A>GCA2625420TFc.1830A>G (p.Lys610=)
c.561A>G
n.2824A>G
c.1698A>G (p.Lys566=)
c.1449A>G (p.Lys483=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133775575A>TCA354610497TFc.1830A>T (p.Lys610Asn)
c.561A>T
n.2824A>T
c.1698A>T (p.Lys566Asn)
c.1449A>T (p.Lys483Asn)
3g.133775576G>ACA354610499TFc.1831G>A (p.Asp611Asn)
c.562G>A
n.2825G>A
c.1699G>A (p.Asp567Asn)
c.1450G>A (p.Asp484Asn)
 dbSNP
3g.133775576G>CCA354610500TFc.1831G>C (p.Asp611His)
c.562G>C
n.2825G>C
c.1699G>C (p.Asp567His)
c.1450G>C (p.Asp484His)
3g.133775576G=CA1403122909TFc.1831G= (p.Asp611=)
c.562G=
n.2825G=
c.1699G= (p.Asp567=)
c.1450G= (p.Asp484=)
3g.133775576G>TCA354610498TFc.1831G>T (p.Asp611Tyr)
c.562G>T
n.2825G>T
c.1699G>T (p.Asp567Tyr)
c.1450G>T (p.Asp484Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.133775577A>CCA354610501TFc.1832A>C (p.Asp611Ala)
c.563A>C
n.2826A>C
c.1700A>C (p.Asp567Ala)
c.1451A>C (p.Asp484Ala)
3g.133775577A>GCA354610502TFc.1832A>G (p.Asp611Gly)
c.563A>G
n.2826A>G
c.1700A>G (p.Asp567Gly)
c.1451A>G (p.Asp484Gly)
3g.133775577A>TCA354610503TFc.1832A>T (p.Asp611Val)
c.563A>T
n.2826A>T
c.1700A>T (p.Asp567Val)
c.1451A>T (p.Asp484Val)
3g.133775578T>ACA354610504TFc.1833T>A (p.Asp611Glu)
c.564T>A
n.2827T>A
c.1701T>A (p.Asp567Glu)
c.1452T>A (p.Asp484Glu)
3g.133775578T>CCA435815874TFc.1833T>C (p.Asp611=)
c.564T>C
n.2827T>C
c.1701T>C (p.Asp567=)
c.1452T>C (p.Asp484=)
 ClinVar
3g.133775578T>GCA354610505TFc.1833T>G (p.Asp611Glu)
c.564T>G
n.2827T>G
c.1701T>G (p.Asp567Glu)
c.1452T>G (p.Asp484Glu)
3g.133775578_133775579delinsTACA1403122915TFc.1833_1834delinsTA (p.Asp611=)
c.564_565delinsTA
n.2827_2828delinsTA
c.1701_1702delinsTA (p.Asp567=)
c.1452_1453delinsTA (p.Asp484=)
3g.133775579A>CCA354610508TFc.1834A>C (p.Lys612Gln)
c.565A>C
n.2828A>C
c.1702A>C (p.Lys568Gln)
c.1453A>C (p.Lys485Gln)
3g.133775579A>GCA354610506TFc.1834A>G (p.Lys612Glu)
c.565A>G
n.2828A>G
c.1702A>G (p.Lys568Glu)
c.1453A>G (p.Lys485Glu)
3g.133775579A>TCA354610507TFc.1834A>T (p.Lys612Ter)
c.565A>T
n.2828A>T
c.1702A>T (p.Lys568Ter)
c.1453A>T (p.Lys485Ter)
3g.133775580delCA1053735593TFc.1835del (p.Lys612ArgfsTer20)
c.566del
n.2829del
c.1703del (p.Lys568ArgfsTer20)
c.1454del (p.Lys485ArgfsTer20)
 dbSNP gnomAD v3 gnomAD v4
3g.133775580A>CCA354610509TFc.1835A>C (p.Lys612Thr)
c.566A>C
n.2829A>C
c.1703A>C (p.Lys568Thr)
c.1454A>C (p.Lys485Thr)
3g.133775580A>GCA354610510TFc.1835A>G (p.Lys612Arg)
c.566A>G
n.2829A>G
c.1703A>G (p.Lys568Arg)
c.1454A>G (p.Lys485Arg)
3g.133775580A>TCA354610511TFc.1835A>T (p.Lys612Met)
c.566A>T
n.2829A>T
c.1703A>T (p.Lys568Met)
c.1454A>T (p.Lys485Met)
3g.133775581G>ACA435815875TFc.1836G>A (p.Lys612=)
c.567G>A
n.2830G>A
c.1704G>A (p.Lys568=)
c.1455G>A (p.Lys485=)
 ClinVar
3g.133775581G>CCA354610512TFc.1836G>C (p.Lys612Asn)
c.567G>C
n.2830G>C
c.1704G>C (p.Lys568Asn)
c.1455G>C (p.Lys485Asn)
3g.133775581G>TCA354610513TFc.1836G>T (p.Lys612Asn)
c.567G>T
n.2830G>T
c.1704G>T (p.Lys568Asn)
c.1455G>T (p.Lys485Asn)
3g.133775582G>ACA354610516TFc.1837G>A (p.Glu613Lys)
c.568G>A
n.2831G>A
c.1705G>A (p.Glu569Lys)
c.1456G>A (p.Glu486Lys)
3g.133775582G>CCA354610515TFc.1837G>C (p.Glu613Gln)
c.568G>C
n.2831G>C
c.1705G>C (p.Glu569Gln)
c.1456G>C (p.Glu486Gln)
3g.133775582G>TCA354610514TFc.1837G>T (p.Glu613Ter)
c.568G>T
n.2831G>T
c.1705G>T (p.Glu569Ter)
c.1456G>T (p.Glu486Ter)
3g.133775583A>CCA354610517TFc.1838A>C (p.Glu613Ala)
c.569A>C
n.2832A>C
c.1706A>C (p.Glu569Ala)
c.1457A>C (p.Glu486Ala)
3g.133775583A>GCA354610519TFc.1838A>G (p.Glu613Gly)
c.569A>G
n.2832A>G
c.1706A>G (p.Glu569Gly)
c.1457A>G (p.Glu486Gly)
3g.133775583A>TCA354610518TFc.1838A>T (p.Glu613Val)
c.569A>T
n.2832A>T
c.1706A>T (p.Glu569Val)
c.1457A>T (p.Glu486Val)
3g.133775584A>CCA354610520TFc.1839A>C (p.Glu613Asp)
c.570A>C
n.2833A>C
c.1707A>C (p.Glu569Asp)
c.1458A>C (p.Glu486Asp)
3g.133775584A>GCA435815876TFc.1839A>G (p.Glu613=)
c.570A>G
n.2833A>G
c.1707A>G (p.Glu569=)
c.1458A>G (p.Glu486=)
3g.133775584A>TCA354610521TFc.1839A>T (p.Glu613Asp)
c.570A>T
n.2833A>T
c.1707A>T (p.Glu569Asp)
c.1458A>T (p.Glu486Asp)
3g.133775585G>ACA354610522TFc.1840G>A (p.Ala614Thr)
c.571G>A
n.2834G>A
c.1708G>A (p.Ala570Thr)
c.1459G>A (p.Ala487Thr)
3g.133775585G>CCA354610523TFc.1840G>C (p.Ala614Pro)
c.571G>C
n.2834G>C
c.1708G>C (p.Ala570Pro)
c.1459G>C (p.Ala487Pro)
3g.133775585G>TCA354610524TFc.1840G>T (p.Ala614Ser)
c.571G>T
n.2834G>T
c.1708G>T (p.Ala570Ser)
c.1459G>T (p.Ala487Ser)
3g.133775586C>ACA354610525TFc.1841C>A (p.Ala614Asp)
c.572C>A
n.2835C>A
c.1709C>A (p.Ala570Asp)
c.1460C>A (p.Ala487Asp)
3g.133775586C=CA1403122918TFc.1841C= (p.Ala614=)
c.572C=
n.2835C=
c.1709C= (p.Ala570=)
c.1460C= (p.Ala487=)
3g.133775586C>GCA354610526TFc.1841C>G (p.Ala614Gly)
c.572C>G
n.2835C>G
c.1709C>G (p.Ala570Gly)
c.1460C>G (p.Ala487Gly)
 dbSNP
3g.133775586C>TCA354610527TFc.1841C>T (p.Ala614Val)
c.572C>T
n.2835C>T
c.1709C>T (p.Ala570Val)
c.1460C>T (p.Ala487Val)
 dbSNP
3g.133775587T>ACA435815877TFc.1842T>A (p.Ala614=)
c.573T>A
n.2836T>A
c.1710T>A (p.Ala570=)
c.1461T>A (p.Ala487=)
3g.133775587T>CCA435815879TFc.1842T>C (p.Ala614=)
c.573T>C
n.2836T>C
c.1710T>C (p.Ala570=)
c.1461T>C (p.Ala487=)
3g.133775587T>GCA435815878TFc.1842T>G (p.Ala614=)
c.573T>G
n.2836T>G
c.1710T>G (p.Ala570=)
c.1461T>G (p.Ala487=)
3g.133775588T>ACA354610528TFc.1843T>A (p.Cys615Ser)
c.574T>A
n.2837T>A
c.1711T>A (p.Cys571Ser)
c.1462T>A (p.Cys488Ser)
3g.133775588T>CCA354610529TFc.1843T>C (p.Cys615Arg)
c.574T>C
n.2837T>C
c.1711T>C (p.Cys571Arg)
c.1462T>C (p.Cys488Arg)
3g.133775588T>GCA354610530TFc.1843T>G (p.Cys615Gly)
c.574T>G
n.2837T>G
c.1711T>G (p.Cys571Gly)
c.1462T>G (p.Cys488Gly)
3g.133775589G>ACA354610531TFc.1844G>A (p.Cys615Tyr)
c.575G>A
n.2838G>A
c.1712G>A (p.Cys571Tyr)
c.1463G>A (p.Cys488Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.133775589G>CCA354610532TFc.1844G>C (p.Cys615Ser)
c.575G>C
n.2838G>C
c.1712G>C (p.Cys571Ser)
c.1463G>C (p.Cys488Ser)
3g.133775589G=CA1403122921TFc.1844G= (p.Cys615=)
c.575G=
n.2838G=
c.1712G= (p.Cys571=)
c.1463G= (p.Cys488=)
3g.133775589G>TCA354610533TFc.1844G>T (p.Cys615Phe)
c.575G>T
n.2838G>T
c.1712G>T (p.Cys571Phe)
c.1463G>T (p.Cys488Phe)
3g.133775590C>ACA354610535TFc.1845C>A (p.Cys615Ter)
c.576C>A
n.2839C>A
c.1713C>A (p.Cys571Ter)
c.1464C>A (p.Cys488Ter)
 gnomAD v4
3g.133775590C=CA1403122927TFc.1845C= (p.Cys615=)
c.576C=
n.2839C=
c.1713C= (p.Cys571=)
c.1464C= (p.Cys488=)
3g.133775590C>GCA354610534TFc.1845C>G (p.Cys615Trp)
c.576C>G
n.2839C>G
c.1713C>G (p.Cys571Trp)
c.1464C>G (p.Cys488Trp)
3g.133775590C>TCA2625421TFc.1845C>T (p.Cys615=)
c.576C>T
n.2839C>T
c.1713C>T (p.Cys571=)
c.1464C>T (p.Cys488=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133775591G>ACA83693023TFc.1846G>A (p.Val616Ile)
c.577G>A
n.2840G>A
c.1714G>A (p.Val572Ile)
c.1465G>A (p.Val489Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.133775591G>CCA354610536TFc.1846G>C (p.Val616Leu)
c.577G>C
n.2840G>C
c.1714G>C (p.Val572Leu)
c.1465G>C (p.Val489Leu)
3g.133775591G=CA1403122932TFc.1846G= (p.Val616=)
c.577G=
n.2840G=
c.1714G= (p.Val572=)
c.1465G= (p.Val489=)
3g.133775591G>TCA354610537TFc.1846G>T (p.Val616Phe)
c.577G>T
n.2840G>T
c.1714G>T (p.Val572Phe)
c.1465G>T (p.Val489Phe)
 dbSNP COSMIC
3g.133775592T>ACA354610538TFc.1847T>A (p.Val616Asp)
c.578T>A
n.2841T>A
c.1715T>A (p.Val572Asp)
c.1466T>A (p.Val489Asp)
3g.133775592T>CCA354610539TFc.1847T>C (p.Val616Ala)
c.578T>C
n.2841T>C
c.1715T>C (p.Val572Ala)
c.1466T>C (p.Val489Ala)
3g.133775592T>GCA354610540TFc.1847T>G (p.Val616Gly)
c.578T>G
n.2841T>G
c.1715T>G (p.Val572Gly)
c.1466T>G (p.Val489Gly)
3g.133775593C>ACA435815880TFc.1848C>A (p.Val616=)
c.579C>A
n.2842C>A
c.1716C>A (p.Val572=)
c.1467C>A (p.Val489=)
3g.133775593C>GCA435815881TFc.1848C>G (p.Val616=)
c.579C>G
n.2842C>G
c.1716C>G (p.Val572=)
c.1467C>G (p.Val489=)
3g.133775593C>TCA435815882TFc.1848C>T (p.Val616=)
c.579C>T
n.2842C>T
c.1716C>T (p.Val572=)
c.1467C>T (p.Val489=)
3g.133775594C>ACA354610541TFc.1849C>A (p.His617Asn)
c.580C>A
n.2843C>A
c.1717C>A (p.His573Asn)
c.1468C>A (p.His490Asn)
3g.133775594C>GCA354610542TFc.1849C>G (p.His617Asp)
c.580C>G
n.2843C>G
c.1717C>G (p.His573Asp)
c.1468C>G (p.His490Asp)
3g.133775594C>TCA354610543TFc.1849C>T (p.His617Tyr)
c.580C>T
n.2843C>T
c.1717C>T (p.His573Tyr)
c.1468C>T (p.His490Tyr)
3g.133775595A=CA1403122938TFc.1850A= (p.His617=)
c.581A=
n.2844A=
c.1718A= (p.His573=)
c.1469A= (p.His490=)
3g.133775595A>CCA354610544TFc.1850A>C (p.His617Pro)
c.581A>C
n.2844A>C
c.1718A>C (p.His573Pro)
c.1469A>C (p.His490Pro)
3g.133775595A>GCA354610545TFc.1850A>G (p.His617Arg)
c.581A>G
n.2844A>G
c.1718A>G (p.His573Arg)
c.1469A>G (p.His490Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133775595A>TCA354610546TFc.1850A>T (p.His617Leu)
c.581A>T
n.2844A>T
c.1718A>T (p.His573Leu)
c.1469A>T (p.His490Leu)
3g.133775596C>ACA354610547TFc.1851C>A (p.His617Gln)
c.582C>A
n.2845C>A
c.1719C>A (p.His573Gln)
c.1470C>A (p.His490Gln)
3g.133775596C>GCA354610548TFc.1851C>G (p.His617Gln)
c.582C>G
n.2845C>G
c.1719C>G (p.His573Gln)
c.1470C>G (p.His490Gln)
3g.133775596C>TCA435815883TFc.1851C>T (p.His617=)
c.582C>T
n.2845C>T
c.1719C>T (p.His573=)
c.1470C>T (p.His490=)
3g.133775597A>CCA354610549TFc.1852A>C (p.Lys618Gln)
c.583A>C
n.2846A>C
c.1720A>C (p.Lys574Gln)
c.1471A>C (p.Lys491Gln)
3g.133775597A>GCA354610550TFc.1852A>G (p.Lys618Glu)
c.583A>G
n.2846A>G
c.1720A>G (p.Lys574Glu)
c.1471A>G (p.Lys491Glu)
3g.133775597A>TCA354610551TFc.1852A>T (p.Lys618Ter)
c.583A>T
n.2846A>T
c.1720A>T (p.Lys574Ter)
c.1471A>T (p.Lys491Ter)
3g.133775598A>CCA354610552TFc.1853A>C (p.Lys618Thr)
c.584A>C
n.2847A>C
c.1721A>C (p.Lys574Thr)
c.1472A>C (p.Lys491Thr)
3g.133775598A>GCA354610553TFc.1853A>G (p.Lys618Arg)
c.584A>G
n.2847A>G
c.1721A>G (p.Lys574Arg)
c.1472A>G (p.Lys491Arg)
3g.133775598A>TCA354610554TFc.1853A>T (p.Lys618Met)
c.584A>T
n.2847A>T
c.1721A>T (p.Lys574Met)
c.1472A>T (p.Lys491Met)
3g.133775599G>ACA435815884TFc.1854G>A (p.Lys618=)
c.585G>A
n.2848G>A
c.1722G>A (p.Lys574=)
c.1473G>A (p.Lys491=)
3g.133775599G>CCA354610555TFc.1854G>C (p.Lys618Asn)
c.585G>C
n.2848G>C
c.1722G>C (p.Lys574Asn)
c.1473G>C (p.Lys491Asn)
3g.133775599G>TCA354610556TFc.1854G>T (p.Lys618Asn)
c.585G>T
n.2848G>T
c.1722G>T (p.Lys574Asn)
c.1473G>T (p.Lys491Asn)
3g.133775600A>CCA354610557TFc.1855A>C (p.Ile619Leu)
c.586A>C
n.2849A>C
c.1723A>C (p.Ile575Leu)
c.1474A>C (p.Ile492Leu)
3g.133775600A>GCA354610558TFc.1855A>G (p.Ile619Val)
c.586A>G
n.2849A>G
c.1723A>G (p.Ile575Val)
c.1474A>G (p.Ile492Val)
 gnomAD v4 COSMIC
3g.133775600A>TCA354610559TFc.1855A>T (p.Ile619Leu)
c.586A>T
n.2849A>T
c.1723A>T (p.Ile575Leu)
c.1474A>T (p.Ile492Leu)
3g.133775601T>ACA354610562TFc.1856T>A (p.Ile619Lys)
c.587T>A
n.2850T>A
c.1724T>A (p.Ile575Lys)
c.1475T>A (p.Ile492Lys)
3g.133775601T>CCA354610561TFc.1856T>C (p.Ile619Thr)
c.587T>C
n.2850T>C
c.1724T>C (p.Ile575Thr)
c.1475T>C (p.Ile492Thr)
3g.133775601T>GCA354610560TFc.1856T>G (p.Ile619Arg)
c.587T>G
n.2850T>G
c.1724T>G (p.Ile575Arg)
c.1475T>G (p.Ile492Arg)
3g.133775602A=CA1403122942TFc.1857A= (p.Ile619=)
c.588A=
n.2851A=
c.1725A= (p.Ile575=)
c.1476A= (p.Ile492=)
3g.133775602A>CCA435815885TFc.1857A>C (p.Ile619=)
c.588A>C
n.2851A>C
c.1725A>C (p.Ile575=)
c.1476A>C (p.Ile492=)
3g.133775602A>GCA354610563TFc.1857A>G (p.Ile619Met)
c.588A>G
n.2851A>G
c.1725A>G (p.Ile575Met)
c.1476A>G (p.Ile492Met)
 dbSNP gnomAD v3 gnomAD v4
3g.133775602A>TCA2625422TFc.1857A>T (p.Ile619=)
c.588A>T
n.2851A>T
c.1725A>T (p.Ile575=)
c.1476A>T (p.Ile492=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133775603T>ACA354610564TFc.1858T>A (p.Leu620Ile)
c.589T>A
n.2852T>A
c.1726T>A (p.Leu576Ile)
c.1477T>A (p.Leu493Ile)
3g.133775603T>CCA435815886TFc.1858T>C (p.Leu620=)
c.589T>C
n.2852T>C
c.1726T>C (p.Leu576=)
c.1477T>C (p.Leu493=)
 ClinVar gnomAD v4
3g.133775603T>GCA354610565TFc.1858T>G (p.Leu620Val)
c.589T>G
n.2852T>G
c.1726T>G (p.Leu576Val)
c.1477T>G (p.Leu493Val)
3g.133775604T>ACA354610566TFc.1859T>A (p.Leu620Ter)
c.590T>A
n.2853T>A
c.1727T>A (p.Leu576Ter)
c.1478T>A (p.Leu493Ter)
3g.133775604T>CCA354610567TFc.1859T>C (p.Leu620Ser)
c.590T>C
n.2853T>C
c.1727T>C (p.Leu576Ser)
c.1478T>C (p.Leu493Ser)
3g.133775604T>GCA354610568TFc.1859T>G (p.Leu620Ter)
c.590T>G
n.2853T>G
c.1727T>G (p.Leu576Ter)
c.1478T>G (p.Leu493Ter)
3g.133775605A=CA1403122947TFc.1860A= (p.Leu620=)
c.591A=
n.2854A=
c.1728A= (p.Leu576=)
c.1479A= (p.Leu493=)
3g.133775605A>CCA83693027TFc.1860A>C (p.Leu620Phe)
c.591A>C
n.2854A>C
c.1728A>C (p.Leu576Phe)
c.1479A>C (p.Leu493Phe)
 dbSNP
3g.133775605A>GCA435815887TFc.1860A>G (p.Leu620=)
c.591A>G
n.2854A>G
c.1728A>G (p.Leu576=)
c.1479A>G (p.Leu493=)
3g.133775605A>TCA354610569TFc.1860A>T (p.Leu620Phe)
c.591A>T
n.2854A>T
c.1728A>T (p.Leu576Phe)
c.1479A>T (p.Leu493Phe)
3g.133775606C>ACA354610571TFc.1861C>A (p.Arg621Ser)
c.592C>A
n.2855C>A
c.1729C>A (p.Arg577Ser)
c.1480C>A (p.Arg494Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.133775606C=CA1403122950TFc.1861C= (p.Arg621=)
c.592C=
n.2855C=
c.1729C= (p.Arg577=)
c.1480C= (p.Arg494=)
3g.133775606C>GCA354610573TFc.1861C>G (p.Arg621Gly)
c.592C>G
n.2855C>G
c.1729C>G (p.Arg577Gly)
c.1480C>G (p.Arg494Gly)
3g.133775606C>TCA2625423TFc.1861C>T (p.Arg621Cys)
c.592C>T
n.2855C>T
c.1729C>T (p.Arg577Cys)
c.1480C>T (p.Arg494Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775607G>ACA2625424TFc.1862G>A (p.Arg621His)
c.593G>A
n.2856G>A
c.1730G>A (p.Arg577His)
c.1481G>A (p.Arg494His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133775607G>CCA354610579TFc.1862G>C (p.Arg621Pro)
c.593G>C
n.2856G>C
c.1730G>C (p.Arg577Pro)
c.1481G>C (p.Arg494Pro)
3g.133775607G=CA1403122958TFc.1862G= (p.Arg621=)
c.593G=
n.2856G=
c.1730G= (p.Arg577=)
c.1481G= (p.Arg494=)
3g.133775607G>TCA354610577TFc.1862G>T (p.Arg621Leu)
c.593G>T
n.2856G>T
c.1730G>T (p.Arg577Leu)
c.1481G>T (p.Arg494Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.133775608T>ACA435815888TFc.1863T>A (p.Arg621=)
c.594T>A
n.2857T>A
c.1731T>A (p.Arg577=)
c.1482T>A (p.Arg494=)
 dbSNP gnomAD v2
3g.133775608T>CCA435815889TFc.1863T>C (p.Arg621=)
c.594T>C
n.2857T>C
c.1731T>C (p.Arg577=)
c.1482T>C (p.Arg494=)
3g.133775608T>GCA435815890TFc.1863T>G (p.Arg621=)
c.594T>G
n.2857T>G
c.1731T>G (p.Arg577=)
c.1482T>G (p.Arg494=)
3g.133775608T=CA1403122966TFc.1863T= (p.Arg621=)
c.594T=
n.2857T=
c.1731T= (p.Arg577=)
c.1482T= (p.Arg494=)
3g.133775609C>ACA354610583TFc.1864C>A (p.Gln622Lys)
c.595C>A
n.2858C>A
c.1732C>A (p.Gln578Lys)
c.1483C>A (p.Gln495Lys)
3g.133775609C>GCA354610586TFc.1864C>G (p.Gln622Glu)
c.595C>G
n.2858C>G
c.1732C>G (p.Gln578Glu)
c.1483C>G (p.Gln495Glu)
3g.133775609C>TCA354610584TFc.1864C>T (p.Gln622Ter)
c.595C>T
n.2858C>T
c.1732C>T (p.Gln578Ter)
c.1483C>T (p.Gln495Ter)
3g.133775610A>CCA354610589TFc.1865A>C (p.Gln622Pro)
c.596A>C
n.2859A>C
c.1733A>C (p.Gln578Pro)
c.1484A>C (p.Gln495Pro)
3g.133775610A>GCA354610590TFc.1865A>G (p.Gln622Arg)
c.596A>G
n.2859A>G
c.1733A>G (p.Gln578Arg)
c.1484A>G (p.Gln495Arg)
3g.133775610A>TCA354610591TFc.1865A>T (p.Gln622Leu)
c.596A>T
n.2859A>T
c.1733A>T (p.Gln578Leu)
c.1484A>T (p.Gln495Leu)
3g.133775611A>CCA354610592TFc.1866A>C (p.Gln622His)
c.597A>C
n.2860A>C
c.1734A>C (p.Gln578His)
c.1485A>C (p.Gln495His)
3g.133775611A>GCA435815891TFc.1866A>G (p.Gln622=)
c.597A>G
n.2860A>G
c.1734A>G (p.Gln578=)
c.1485A>G (p.Gln495=)
 gnomAD v4
3g.133775611A>TCA354610593TFc.1866A>T (p.Gln622His)
c.597A>T
n.2860A>T
c.1734A>T (p.Gln578His)
c.1485A>T (p.Gln495His)
3g.133775612C>ACA354610597TFc.1867C>A (p.Gln623Lys)
c.598C>A
n.2861C>A
c.1735C>A (p.Gln579Lys)
c.1486C>A (p.Gln496Lys)
 gnomAD v4 COSMIC
3g.133775612C>GCA354610598TFc.1867C>G (p.Gln623Glu)
c.598C>G
n.2861C>G
c.1735C>G (p.Gln579Glu)
c.1486C>G (p.Gln496Glu)
3g.133775612C>TCA354610600TFc.1867C>T (p.Gln623Ter)
c.598C>T
n.2861C>T
c.1735C>T (p.Gln579Ter)
c.1486C>T (p.Gln496Ter)
3g.133775613A>CCA354610602TFc.1868A>C (p.Gln623Pro)
c.599A>C
n.2862A>C
c.1736A>C (p.Gln579Pro)
c.1487A>C (p.Gln496Pro)
3g.133775613A>GCA354610603TFc.1868A>G (p.Gln623Arg)
c.599A>G
n.2862A>G
c.1736A>G (p.Gln579Arg)
c.1487A>G (p.Gln496Arg)
3g.133775613A>TCA354610605TFc.1868A>T (p.Gln623Leu)
c.599A>T
n.2862A>T
c.1736A>T (p.Gln579Leu)
c.1487A>T (p.Gln496Leu)
3g.133775614G>ACA435815892TFc.1869G>A (p.Gln623=)
c.600G>A
n.2863G>A
c.1737G>A (p.Gln579=)
c.1488G>A (p.Gln496=)
3g.133775614G>CCA354610607TFc.1869G>C (p.Gln623His)
c.600G>C
n.2863G>C
c.1737G>C (p.Gln579His)
c.1488G>C (p.Gln496His)
3g.133775614G>TCA354610609TFc.1869G>T (p.Gln623His)
c.600G>T
n.2863G>T
c.1737G>T (p.Gln579His)
c.1488G>T (p.Gln496His)
3g.133775614_133775629delinsGCAGGTATGGACCAGCCA1403122969TFc.1869_1872+12delinsGCAGGTATGGACCAGC
c.600_603+12delinsGCAGGTATGGACCAGC
n.2863_2866+12delinsGCAGGTATGGACCAGC
c.1737_1740+12delinsGCAGGTATGGACCAGC
c.1488_1491+12delinsGCAGGTATGGACCAGC
3g.133775615C>ACA354610612TFc.1870C>A (p.Gln624Lys)
c.601C>A
n.2864C>A
c.1738C>A (p.Gln580Lys)
c.1489C>A (p.Gln497Lys)
3g.133775615C=CA1403122974TFc.1870C= (p.Gln624=)
c.601C=
n.2864C=
c.1738C= (p.Gln580=)
c.1489C= (p.Gln497=)
3g.133775615C>GCA2625425TFc.1870C>G (p.Gln624Glu)
c.601C>G
n.2864C>G
c.1738C>G (p.Gln580Glu)
c.1489C>G (p.Gln497Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133775615C>TCA354610613TFc.1870C>T (p.Gln624Ter)
c.601C>T
n.2864C>T
c.1738C>T (p.Gln580Ter)
c.1489C>T (p.Gln497Ter)
 dbSNP gnomAD v4
3g.133775620_133775634delCA917011696TFc.1872+3_1872+17del
c.603+3_603+17del
n.2866+3_2866+17del
c.1740+3_1740+17del
c.1491+3_1491+17del
 dbSNP gnomAD v4
3g.133775616delCA2667772099TFc.1871del (p.Gln624ArgfsTer8)
c.602del
n.2865del
c.1739del (p.Gln580ArgfsTer8)
c.1490del (p.Gln497ArgfsTer8)
 gnomAD v4
3g.133775616A>CCA354610617TFc.1871A>C (p.Gln624Pro)
c.602A>C
n.2865A>C
c.1739A>C (p.Gln580Pro)
c.1490A>C (p.Gln497Pro)
3g.133775616A>GCA354610619TFc.1871A>G (p.Gln624Arg)
c.602A>G
n.2865A>G
c.1739A>G (p.Gln580Arg)
c.1490A>G (p.Gln497Arg)
3g.133775616A>TCA354610620TFc.1871A>T (p.Gln624Leu)
c.602A>T
n.2865A>T
c.1739A>T (p.Gln580Leu)
c.1490A>T (p.Gln497Leu)
3g.133775617G>ACA435815893TFc.1872G>A (p.Gln624=)
c.603G>A
n.2866G>A
c.1740G>A (p.Gln580=)
c.1491G>A (p.Gln497=)
3g.133775617G>CCA354610623TFc.1872G>C (p.Gln624His)
c.603G>C
n.2866G>C
c.1740G>C (p.Gln580His)
c.1491G>C (p.Gln497His)
3g.133775617G=CA1403122977TFc.1872G= (p.Gln624=)
c.603G=
n.2866G=
c.1740G= (p.Gln580=)
c.1491G= (p.Gln497=)
3g.133775617G>TCA354610624TFc.1872G>T (p.Gln624His)
c.603G>T
n.2866G>T
c.1740G>T (p.Gln580His)
c.1491G>T (p.Gln497His)
 dbSNP
3g.133775618G>ACA354610625TFc.1872+1G>A (n.1872+1G>A)
c.603+1G>A
n.2866+1G>A
c.1740+1G>A (n.1740+1G>A)
c.1491+1G>A (n.1491+1G>A)
3g.133775618G>CCA2625426TFc.1872+1G>C (n.1872+1G>C)
c.603+1G>C
n.2866+1G>C
c.1740+1G>C (n.1740+1G>C)
c.1491+1G>C (n.1491+1G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133775618G=CA1403122981TFc.1872+1G= (n.1872+1G=)
c.603+1G=
n.2866+1G=
c.1740+1G= (n.1740+1G=)
c.1491+1G= (n.1491+1G=)
3g.133775618G>TCA354610629TFc.1872+1G>T (n.1872+1G>T)
c.603+1G>T
n.2866+1G>T
c.1740+1G>T (n.1740+1G>T)
c.1491+1G>T (n.1491+1G>T)
3g.133775619T>ACA354610631TFc.1872+2T>A (n.1872+2T>A)
c.603+2T>A
n.2866+2T>A
c.1740+2T>A (n.1740+2T>A)
c.1491+2T>A (n.1491+2T>A)
3g.133775619T>CCA354610633TFc.1872+2T>C (n.1872+2T>C)
c.603+2T>C
n.2866+2T>C
c.1740+2T>C (n.1740+2T>C)
c.1491+2T>C (n.1491+2T>C)
3g.133775619T>GCA354610635TFc.1872+2T>G (n.1872+2T>G)
c.603+2T>G
n.2866+2T>G
c.1740+2T>G (n.1740+2T>G)
c.1491+2T>G (n.1491+2T>G)
3g.133775620A=CA1403122984TFc.1872+3A= (n.1872+3A=)
c.603+3A=
n.2866+3A=
c.1740+3A= (n.1740+3A=)
c.1491+3A= (n.1491+3A=)
3g.133775620A>GCA546420552TFc.1872+3A>G (n.1872+3A>G)
c.603+3A>G
n.2866+3A>G
c.1740+3A>G (n.1740+3A>G)
c.1491+3A>G (n.1491+3A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133775621T>CCA2577907400TFc.1872+4T>C (n.1872+4T>C)
c.603+4T>C
n.2866+4T>C
c.1740+4T>C (n.1740+4T>C)
c.1491+4T>C (n.1491+4T>C)
 gnomAD v4
3g.133775621T=CA1403122990TFc.1872+4T= (n.1872+4T=)
c.603+4T=
n.2866+4T=
c.1740+4T= (n.1740+4T=)
c.1491+4T= (n.1491+4T=)
3g.133775621_133775622insCTGTTGGGACA546420553TFc.1872+4_1872+5insCTGTTGGGA (n.1872+4_1872+5insCTGTTGGGA)
c.603+4_603+5insCTGTTGGGA
n.2866+4_2866+5insCTGTTGGGA
c.1740+4_1740+5insCTGTTGGGA (n.1740+4_1740+5insCTGTTGGGA)
c.1491+4_1491+5insCTGTTGGGA (n.1491+4_1491+5insCTGTTGGGA)
 dbSNP gnomAD v2 gnomAD v4
3g.133775622G>ACA546420554TFc.1872+5G>A (n.1872+5G>A)
c.603+5G>A
n.2866+5G>A
c.1740+5G>A (n.1740+5G>A)
c.1491+5G>A (n.1491+5G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.133775622G=CA1403122999TFc.1872+5G= (n.1872+5G=)
c.603+5G=
n.2866+5G=
c.1740+5G= (n.1740+5G=)
c.1491+5G= (n.1491+5G=)
3g.133775622G>TCA645516350TFc.1872+5G>T (n.1872+5G>T)
c.603+5G>T
n.2866+5G>T
c.1740+5G>T (n.1740+5G>T)
c.1491+5G>T (n.1491+5G>T)
 COSMIC
3g.133775624A=CA1403123002TFc.1872+7A= (n.1872+7A=)
c.603+7A=
n.2866+7A=
c.1740+7A= (n.1740+7A=)
c.1491+7A= (n.1491+7A=)
3g.133775624A>CCA1403123004TFc.1872+7A>C (n.1872+7A>C)
c.603+7A>C
n.2866+7A>C
c.1740+7A>C (n.1740+7A>C)
c.1491+7A>C (n.1491+7A>C)
 dbSNP
3g.133775624A>GCA83693061TFc.1872+7A>G (n.1872+7A>G)
c.603+7A>G
n.2866+7A>G
c.1740+7A>G (n.1740+7A>G)
c.1491+7A>G (n.1491+7A>G)
 dbSNP
3g.133775625C>GCA2577907401TFc.1872+8C>G (n.1872+8C>G)
c.603+8C>G
n.2866+8C>G
c.1740+8C>G (n.1740+8C>G)
c.1491+8C>G (n.1491+8C>G)

Number of alleles fetched