Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.64751349A>CCA381168701PYGMc.1945T>G (p.Tyr649Asp)
c.1681T>G (p.Tyr561Asp)
n.269T>G
11g.64751349A>GCA381168712PYGMc.1945T>C (p.Tyr649His)
c.1681T>C (p.Tyr561His)
n.269T>C
11g.64751349A>TCA381168713PYGMc.1945T>A (p.Tyr649Asn)
c.1681T>A (p.Tyr561Asn)
n.269T>A
11g.64751350G>ACA6079670PYGMc.1944C>T (p.Asn648=)
c.1680C>T (p.Asn560=)
n.268C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64751350G>CCA381168718PYGMc.1944C>G (p.Asn648Lys)
c.1680C>G (p.Asn560Lys)
n.268C>G
11g.64751350G=CA1978915957PYGMc.1944C= (p.Asn648=)
c.1680C= (p.Asn560=)
n.268C=
11g.64751350G>TCA381168721PYGMc.1944C>A (p.Asn648Lys)
c.1680C>A (p.Asn560Lys)
n.268C>A
11g.64751351T>ACA381168737PYGMc.1943A>T (p.Asn648Ile)
c.1679A>T (p.Asn560Ile)
n.267A>T
11g.64751351T>CCA381168740PYGMc.1943A>G (p.Asn648Ser)
c.1679A>G (p.Asn560Ser)
n.267A>G
 gnomAD v4
11g.64751351T>GCA381168745PYGMc.1943A>C (p.Asn648Thr)
c.1679A>C (p.Asn560Thr)
n.267A>C
11g.64751352T>ACA381168749PYGMc.1942A>T (p.Asn648Tyr)
c.1678A>T (p.Asn560Tyr)
n.266A>T
11g.64751352T>CCA381168753PYGMc.1942A>G (p.Asn648Asp)
c.1678A>G (p.Asn560Asp)
n.266A>G
11g.64751352T>GCA381168756PYGMc.1942A>C (p.Asn648His)
c.1678A>C (p.Asn560His)
n.266A>C
11g.64751353C>ACA381168767PYGMc.1941G>T (p.Glu647Asp)
c.1677G>T (p.Glu559Asp)
n.265G>T
 dbSNP
11g.64751353C=CA1978915962PYGMc.1941G= (p.Glu647=)
c.1677G= (p.Glu559=)
n.265G=
11g.64751353C>GCA381168761PYGMc.1941G>C (p.Glu647Asp)
c.1677G>C (p.Glu559Asp)
n.265G>C
11g.64751353C>TCA6079671PYGMc.1941G>A (p.Glu647=)
c.1677G>A (p.Glu559=)
n.265G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64751354T>ACA381168772PYGMc.1940A>T (p.Glu647Val)
c.1676A>T (p.Glu559Val)
n.264A>T
 gnomAD v4
11g.64751354T>CCA381168775PYGMc.1940A>G (p.Glu647Gly)
c.1676A>G (p.Glu559Gly)
n.264A>G
11g.64751354T>GCA381168779PYGMc.1940A>C (p.Glu647Ala)
c.1676A>C (p.Glu559Ala)
n.264A>C
11g.64751355C>ACA381168784PYGMc.1939G>T (p.Glu647Ter)
c.1675G>T (p.Glu559Ter)
n.263G>T
 gnomAD v4
11g.64751355C>GCA381168788PYGMc.1939G>C (p.Glu647Gln)
c.1675G>C (p.Glu559Gln)
n.263G>C
11g.64751355C>TCA381168792PYGMc.1939G>A (p.Glu647Lys)
c.1675G>A (p.Glu559Lys)
n.263G>A
11g.64751356C>ACA474958858PYGMc.1938G>T (p.Leu646=)
c.1674G>T (p.Leu558=)
n.262G>T
11g.64751356C>GCA474958860PYGMc.1938G>C (p.Leu646=)
c.1674G>C (p.Leu558=)
n.262G>C
11g.64751356C>TCA474958859PYGMc.1938G>A (p.Leu646=)
c.1674G>A (p.Leu558=)
n.262G>A
11g.64751357A>CCA381168797PYGMc.1937T>G (p.Leu646Arg)
c.1673T>G (p.Leu558Arg)
n.261T>G
11g.64751357A>GCA381168800PYGMc.1937T>C (p.Leu646Pro)
c.1673T>C (p.Leu558Pro)
n.261T>C
11g.64751357A>TCA381168804PYGMc.1937T>A (p.Leu646Gln)
c.1673T>A (p.Leu558Gln)
n.261T>A
11g.64751358G>ACA474958861PYGMc.1936C>T (p.Leu646=)
c.1672C>T (p.Leu558=)
n.260C>T
 dbSNP
11g.64751358G>CCA381168816PYGMc.1936C>G (p.Leu646Val)
c.1672C>G (p.Leu558Val)
n.260C>G
11g.64751358G=CA1978915969PYGMc.1936C= (p.Leu646=)
c.1672C= (p.Leu558=)
n.260C=
11g.64751358G>TCA381168820PYGMc.1936C>A (p.Leu646Met)
c.1672C>A (p.Leu558Met)
n.260C>A
11g.64751359G>ACA474958862PYGMc.1935C>T (p.Phe645=)
c.1671C>T (p.Phe557=)
n.259C>T
 dbSNP
11g.64751359G>CCA381168830PYGMc.1935C>G (p.Phe645Leu)
c.1671C>G (p.Phe557Leu)
n.259C>G
11g.64751359G=CA1978915974PYGMc.1935C= (p.Phe645=)
c.1671C= (p.Phe557=)
n.259C=
11g.64751359G>TCA381168824PYGMc.1935C>A (p.Phe645Leu)
c.1671C>A (p.Phe557Leu)
n.259C>A
11g.64751360A>CCA381168831PYGMc.1934T>G (p.Phe645Cys)
c.1670T>G (p.Phe557Cys)
n.258T>G
11g.64751360A>GCA381168834PYGMc.1934T>C (p.Phe645Ser)
c.1670T>C (p.Phe557Ser)
n.258T>C
11g.64751360A>TCA381168833PYGMc.1934T>A (p.Phe645Tyr)
c.1670T>A (p.Phe557Tyr)
n.258T>A
11g.64751361A>CCA381168836PYGMc.1933T>G (p.Phe645Val)
c.1669T>G (p.Phe557Val)
n.257T>G
 gnomAD v4
11g.64751361A>GCA381168837PYGMc.1933T>C (p.Phe645Leu)
c.1669T>C (p.Phe557Leu)
n.257T>C
11g.64751361A>TCA381168840PYGMc.1933T>A (p.Phe645Ile)
c.1669T>A (p.Phe557Ile)
n.257T>A
11g.64751362G>ACA474958863PYGMc.1932C>T (p.Ile644=)
c.1668C>T (p.Ile556=)
n.256C>T
11g.64751362G>CCA381168842PYGMc.1932C>G (p.Ile644Met)
c.1668C>G (p.Ile556Met)
n.256C>G
11g.64751362G>TCA474958864PYGMc.1932C>A (p.Ile644=)
c.1668C>A (p.Ile556=)
n.256C>A
11g.64751363A>CCA381168845PYGMc.1931T>G (p.Ile644Ser)
c.1667T>G (p.Ile556Ser)
n.255T>G
11g.64751363A>GCA381168847PYGMc.1931T>C (p.Ile644Thr)
c.1667T>C (p.Ile556Thr)
n.255T>C
11g.64751363A>TCA381168848PYGMc.1931T>A (p.Ile644Asn)
c.1667T>A (p.Ile556Asn)
n.255T>A
11g.64751364T>ACA381168850PYGMc.1930A>T (p.Ile644Phe)
c.1666A>T (p.Ile556Phe)
n.254A>T
11g.64751364T>CCA381168853PYGMc.1930A>G (p.Ile644Val)
c.1666A>G (p.Ile556Val)
n.254A>G
11g.64751364T>GCA381168856PYGMc.1930A>C (p.Ile644Leu)
c.1666A>C (p.Ile556Leu)
n.254A>C
11g.64751365G>ACA474958865PYGMc.1929C>T (p.Val643=)
c.1665C>T (p.Val555=)
n.253C>T
 COSMIC
11g.64751365G>CCA474958866PYGMc.1929C>G (p.Val643=)
c.1665C>G (p.Val555=)
n.253C>G
 dbSNP
11g.64751365G>TCA474958867PYGMc.1929C>A (p.Val643=)
c.1665C>A (p.Val555=)
n.253C>A
 COSMIC
11g.64751366A>CCA381168859PYGMc.1928T>G (p.Val643Gly)
c.1664T>G (p.Val555Gly)
n.252T>G
11g.64751366A>GCA381168862PYGMc.1928T>C (p.Val643Ala)
c.1664T>C (p.Val555Ala)
n.252T>C
11g.64751366A>TCA381168865PYGMc.1928T>A (p.Val643Asp)
c.1664T>A (p.Val555Asp)
n.252T>A
11g.64751367C>ACA381168867PYGMc.1927G>T (p.Val643Phe)
c.1663G>T (p.Val555Phe)
n.251G>T
11g.64751367C>GCA381168872PYGMc.1927G>C (p.Val643Leu)
c.1663G>C (p.Val555Leu)
n.251G>C
11g.64751367C>TCA381168869PYGMc.1927G>A (p.Val643Ile)
c.1663G>A (p.Val555Ile)
n.251G>A
 gnomAD v4
11g.64751368A=CA1978915983PYGMc.1926T= (p.Arg642=)
c.1662T= (p.Arg554=)
n.250T=
11g.64751368A>CCA474958868PYGMc.1926T>G (p.Arg642=)
c.1662T>G (p.Arg554=)
n.250T>G
11g.64751368A>GCA6079672PYGMc.1926T>C (p.Arg642=)
c.1662T>C (p.Arg554=)
n.250T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751368A>TCA474958869PYGMc.1926T>A (p.Arg642=)
c.1662T>A (p.Arg554=)
n.250T>A
11g.64751369C>ACA381168874PYGMc.1925G>T (p.Arg642Leu)
c.1661G>T (p.Arg554Leu)
n.249G>T
11g.64751369C=CA1978915990PYGMc.1925G= (p.Arg642=)
c.1661G= (p.Arg554=)
n.249G=
11g.64751369C>GCA381168875PYGMc.1925G>C (p.Arg642Pro)
c.1661G>C (p.Arg554Pro)
n.249G>C
11g.64751369C>TCA6079673PYGMc.1925G>A (p.Arg642His)
c.1661G>A (p.Arg554His)
n.249G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751370G>ACA6079674PYGMc.1924C>T (p.Arg642Cys)
c.1660C>T (p.Arg554Cys)
n.248C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751370G>CCA381168880PYGMc.1924C>G (p.Arg642Gly)
c.1660C>G (p.Arg554Gly)
n.248C>G
11g.64751370G=CA1978915996PYGMc.1924C= (p.Arg642=)
c.1660C= (p.Arg554=)
n.248C=
11g.64751370G>TCA381168883PYGMc.1924C>A (p.Arg642Ser)
c.1660C>A (p.Arg554Ser)
n.248C>A
11g.64751371G>ACA474958872PYGMc.1923C>T (p.Leu641=)
c.1659C>T (p.Leu553=)
n.247C>T
11g.64751371G>CCA474958870PYGMc.1923C>G (p.Leu641=)
c.1659C>G (p.Leu553=)
n.247C>G
 ClinVar
11g.64751371G>TCA474958871PYGMc.1923C>A (p.Leu641=)
c.1659C>A (p.Leu553=)
n.247C>A
11g.64751372A>CCA381168889PYGMc.1922T>G (p.Leu641Arg)
c.1658T>G (p.Leu553Arg)
n.246T>G
11g.64751372A>GCA381168891PYGMc.1922T>C (p.Leu641Pro)
c.1658T>C (p.Leu553Pro)
n.246T>C
11g.64751372A>TCA381168894PYGMc.1922T>A (p.Leu641His)
c.1658T>A (p.Leu553His)
n.246T>A
 gnomAD v4
11g.64751373G>ACA381168904PYGMc.1921C>T (p.Leu641Phe)
c.1657C>T (p.Leu553Phe)
n.245C>T
 gnomAD v4
11g.64751373G>CCA6079675PYGMc.1921C>G (p.Leu641Val)
c.1657C>G (p.Leu553Val)
n.245C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64751373G=CA1978916011PYGMc.1921C= (p.Leu641=)
c.1657C= (p.Leu553=)
n.245C=
11g.64751373G>TCA381168898PYGMc.1921C>A (p.Leu641Ile)
c.1657C>A (p.Leu553Ile)
n.245C>A
11g.64751374G>ACA474958873PYGMc.1920C>T (p.Arg640=)
c.1656C>T (p.Arg552=)
n.244C>T
11g.64751374G>CCA474958874PYGMc.1920C>G (p.Arg640=)
c.1656C>G (p.Arg552=)
n.244C>G
11g.64751374G>TCA474958875PYGMc.1920C>A (p.Arg640=)
c.1656C>A (p.Arg552=)
n.244C>A
11g.64751375C>ACA381168907PYGMc.1919G>T (p.Arg640Leu)
c.1655G>T (p.Arg552Leu)
n.243G>T
11g.64751375C=CA1978916020PYGMc.1919G= (p.Arg640=)
c.1655G= (p.Arg552=)
n.243G=
11g.64751375C>GCA381168911PYGMc.1919G>C (p.Arg640Pro)
c.1655G>C (p.Arg552Pro)
n.243G>C
11g.64751375C>TCA6079676PYGMc.1919G>A (p.Arg640His)
c.1655G>A (p.Arg552His)
n.243G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751376G>ACA6079677PYGMc.1918C>T (p.Arg640Cys)
c.1654C>T (p.Arg552Cys)
n.242C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751376G>CCA381168918PYGMc.1918C>G (p.Arg640Gly)
c.1654C>G (p.Arg552Gly)
n.242C>G
11g.64751376G=CA1978916027PYGMc.1918C= (p.Arg640=)
c.1654C= (p.Arg552=)
n.242C=
11g.64751376G>TCA381168920PYGMc.1918C>A (p.Arg640Ser)
c.1654C>A (p.Arg552Ser)
n.242C>A
11g.64751377G>ACA474958876PYGMc.1917C>T (p.Asp639=)
c.1653C>T (p.Asp551=)
n.241C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.64751377G>CCA381168922PYGMc.1917C>G (p.Asp639Glu)
c.1653C>G (p.Asp551Glu)
n.241C>G
11g.64751377G=CA1978916050PYGMc.1917C= (p.Asp639=)
c.1653C= (p.Asp551=)
n.241C=
11g.64751377G>TCA381168921PYGMc.1917C>A (p.Asp639Glu)
c.1653C>A (p.Asp551Glu)
n.241C>A
11g.64751378T>ACA381168923PYGMc.1916A>T (p.Asp639Val)
c.1652A>T (p.Asp551Val)
n.240A>T
11g.64751378T>CCA381168924PYGMc.1916A>G (p.Asp639Gly)
c.1652A>G (p.Asp551Gly)
n.240A>G
11g.64751378T>GCA381168925PYGMc.1916A>C (p.Asp639Ala)
c.1652A>C (p.Asp551Ala)
n.240A>C
 dbSNP
11g.64751378T=CA1978916078PYGMc.1916A= (p.Asp639=)
c.1652A= (p.Asp551=)
n.240A=
11g.64751379_64751380insCCTCCA599803597PYGMc.1916_1917insGGGA (p.Asp639GlufsTer28)
c.1652_1653insGGGA (p.Asp551GlufsTer28)
n.240_241insGGGA
 dbSNP gnomAD v2
11g.64751379C>ACA381168926PYGMc.1915G>T (p.Asp639Tyr)
c.1651G>T (p.Asp551Tyr)
n.239G>T
 ClinVar dbSNP gnomAD v4
11g.64751379C=CA1978916090PYGMc.1915G= (p.Asp639=)
c.1651G= (p.Asp551=)
n.239G=
11g.64751379C>GCA381168928PYGMc.1915G>C (p.Asp639His)
c.1651G>C (p.Asp551His)
n.239G>C
11g.64751379C>TCA381168929PYGMc.1915G>A (p.Asp639Asn)
c.1651G>A (p.Asp551Asn)
n.239G>A
11g.64751380A>CCA474958877PYGMc.1914T>G (p.Gly638=)
c.1650T>G (p.Gly550=)
n.238T>G
11g.64751380A>GCA474958878PYGMc.1914T>C (p.Gly638=)
c.1650T>C (p.Gly550=)
n.238T>C
11g.64751380A>TCA474958879PYGMc.1914T>A (p.Gly638=)
c.1650T>A (p.Gly550=)
n.238T>A
 dbSNP
11g.64751381C>ACA6079678PYGMc.1913G>T (p.Gly638Val)
c.1649G>T (p.Gly550Val)
n.237G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751381C=CA1978916096PYGMc.1913G= (p.Gly638=)
c.1649G= (p.Gly550=)
n.237G=
11g.64751381C>GCA381168934PYGMc.1913G>C (p.Gly638Ala)
c.1649G>C (p.Gly550Ala)
n.237G>C
11g.64751381C>TCA381168933PYGMc.1913G>A (p.Gly638Asp)
c.1649G>A (p.Gly550Asp)
n.237G>A
11g.64751381_64751382insACA599803598PYGMc.1912_1913insT (p.Gly638ValfsTer2)
c.1648_1649insT (p.Gly550ValfsTer2)
n.236_237insT
 dbSNP gnomAD v2
11g.64751382C>ACA381168937PYGMc.1912G>T (p.Gly638Cys)
c.1648G>T (p.Gly550Cys)
n.236G>T
 gnomAD v4
11g.64751382C>GCA381168939PYGMc.1912G>C (p.Gly638Arg)
c.1648G>C (p.Gly550Arg)
n.236G>C
11g.64751382C>TCA381168942PYGMc.1912G>A (p.Gly638Ser)
c.1648G>A (p.Gly550Ser)
n.236G>A
11g.64751383C>ACA474958880PYGMc.1911G>T (p.Val637=)
c.1647G>T (p.Val549=)
n.235G>T
11g.64751383C>GCA474958881PYGMc.1911G>C (p.Val637=)
c.1647G>C (p.Val549=)
n.235G>C
11g.64751383C>TCA474958882PYGMc.1911G>A (p.Val637=)
c.1647G>A (p.Val549=)
n.235G>A
11g.64751384A=CA1978916102PYGMc.1910T= (p.Val637=)
c.1646T= (p.Val549=)
n.234T=
11g.64751384A>CCA381168949PYGMc.1910T>G (p.Val637Gly)
c.1646T>G (p.Val549Gly)
n.234T>G
11g.64751384A>GCA381168952PYGMc.1910T>C (p.Val637Ala)
c.1646T>C (p.Val549Ala)
n.234T>C
11g.64751384A>TCA381168954PYGMc.1910T>A (p.Val637Glu)
c.1646T>A (p.Val549Glu)
n.234T>A
11g.64751384dupCA645591985PYGMc.1910dup (p.Asp639Ter)
c.1646dup (p.Asp551Ter)
n.234dup
 COSMIC
11g.64751384_64751385insGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCA599803599PYGMc.1909_1910insCTATGCCTGGGGCCAGCCTAATCTGAGAGTCCCCAGC (p.Val637AlafsTer9)
c.1645_1646insCTATGCCTGGGGCCAGCCTAATCTGAGAGTCCCCAGC (p.Val549AlafsTer9)
n.233_234insCTATGCCTGGGGCCAGCCTAATCTGAGAGTCCCCAGC
 dbSNP gnomAD v2
11g.64751385C>ACA381168956PYGMc.1909G>T (p.Val637Leu)
c.1645G>T (p.Val549Leu)
n.233G>T
11g.64751385C=CA1978916107PYGMc.1909G= (p.Val637=)
c.1645G= (p.Val549=)
n.233G=
11g.64751385C>GCA381168959PYGMc.1909G>C (p.Val637Leu)
c.1645G>C (p.Val549Leu)
n.233G>C
11g.64751385C>TCA223898256PYGMc.1909G>A (p.Val637Met)
c.1645G>A (p.Val549Met)
n.233G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64751386T>ACA474958883PYGMc.1908A>T (p.Ala636=)
c.1644A>T (p.Ala548=)
n.232A>T
11g.64751386T>CCA474958884PYGMc.1908A>G (p.Ala636=)
c.1644A>G (p.Ala548=)
n.232A>G
 dbSNP
11g.64751386T>GCA474958885PYGMc.1908A>C (p.Ala636=)
c.1644A>C (p.Ala548=)
n.232A>C
11g.64751386_64751389delinsTGCCCA1978916117PYGMc.1905_1908delinsGGCA (p.Pro635=)
c.1641_1644delinsGGCA (p.Pro547=)
n.229_232delinsGGCA
11g.64751387G>ACA381168962PYGMc.1907C>T (p.Ala636Val)
c.1643C>T (p.Ala548Val)
n.231C>T
 dbSNP
11g.64751387G>CCA381168964PYGMc.1907C>G (p.Ala636Gly)
c.1643C>G (p.Ala548Gly)
n.231C>G
11g.64751387G>TCA381168966PYGMc.1907C>A (p.Ala636Glu)
c.1643C>A (p.Ala548Glu)
n.231C>A
 gnomAD v4
11g.64751388_64751390delCA918899333PYGMc.1905_1907del (p.Ala636del)
c.1641_1643del (p.Ala548del)
n.229_231del
 dbSNP
11g.64751388C>ACA381168971PYGMc.1906G>T (p.Ala636Ser)
c.1642G>T (p.Ala548Ser)
n.230G>T
11g.64751388C>GCA381168974PYGMc.1906G>C (p.Ala636Pro)
c.1642G>C (p.Ala548Pro)
n.230G>C
11g.64751388C>TCA381168969PYGMc.1906G>A (p.Ala636Thr)
c.1642G>A (p.Ala548Thr)
n.230G>A
11g.64751389C>ACA474958886PYGMc.1905G>T (p.Pro635=)
c.1641G>T (p.Pro547=)
n.229G>T
 gnomAD v4
11g.64751389C=CA1978916122PYGMc.1905G= (p.Pro635=)
c.1641G= (p.Pro547=)
n.229G=
11g.64751389C>GCA474958887PYGMc.1905G>C (p.Pro635=)
c.1641G>C (p.Pro547=)
n.229G>C
11g.64751389C>TCA6079679PYGMc.1905G>A (p.Pro635=)
c.1641G>A (p.Pro547=)
n.229G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751390G>ACA6079680PYGMc.1904C>T (p.Pro635Leu)
c.1640C>T (p.Pro547Leu)
n.228C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751390G>CCA381168978PYGMc.1904C>G (p.Pro635Arg)
c.1640C>G (p.Pro547Arg)
n.228C>G
11g.64751390G=CA1978916130PYGMc.1904C= (p.Pro635=)
c.1640C= (p.Pro547=)
n.228C=
11g.64751390G>TCA381168981PYGMc.1904C>A (p.Pro635Gln)
c.1640C>A (p.Pro547Gln)
n.228C>A
11g.64751391G>ACA381168985PYGMc.1903C>T (p.Pro635Ser)
c.1639C>T (p.Pro547Ser)
n.227C>T
 gnomAD v4
11g.64751391G>CCA381168986PYGMc.1903C>G (p.Pro635Ala)
c.1639C>G (p.Pro547Ala)
n.227C>G
11g.64751391G>TCA381168990PYGMc.1903C>A (p.Pro635Thr)
c.1639C>A (p.Pro547Thr)
n.227C>A
11g.64751392G>ACA474958888PYGMc.1902C>T (p.Asp634=)
c.1638C>T (p.Asp546=)
n.226C>T
 ClinVar dbSNP gnomAD v4
11g.64751392G>CCA6079681PYGMc.1902C>G (p.Asp634Glu)
c.1638C>G (p.Asp546Glu)
n.226C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64751392G=CA1978916136PYGMc.1902C= (p.Asp634=)
c.1638C= (p.Asp546=)
n.226C=
11g.64751392G>TCA381168996PYGMc.1902C>A (p.Asp634Glu)
c.1638C>A (p.Asp546Glu)
n.226C>A
 dbSNP gnomAD v3 gnomAD v4
11g.64751393_64751401delCA2695214467PYGMc.1894_1902del (p.Asn632_Asp634del)
c.1630_1638del (p.Asn544_Asp546del)
n.218_226del
11g.64751393T>ACA381169001PYGMc.1901A>T (p.Asp634Val)
c.1637A>T (p.Asp546Val)
n.225A>T
11g.64751393T>CCA381169003PYGMc.1901A>G (p.Asp634Gly)
c.1637A>G (p.Asp546Gly)
n.225A>G
11g.64751393T>GCA381169007PYGMc.1901A>C (p.Asp634Ala)
c.1637A>C (p.Asp546Ala)
n.225A>C
11g.64751394C>ACA381169014PYGMc.1900G>T (p.Asp634Tyr)
c.1636G>T (p.Asp546Tyr)
n.224G>T
11g.64751394C=CA1978916140PYGMc.1900G= (p.Asp634=)
c.1636G= (p.Asp546=)
n.224G=
11g.64751394C>GCA381169017PYGMc.1900G>C (p.Asp634His)
c.1636G>C (p.Asp546His)
n.224G>C
 dbSNP gnomAD v2 gnomAD v4
11g.64751394C>TCA381169022PYGMc.1900G>A (p.Asp634Asn)
c.1636G>A (p.Asp546Asn)
n.224G>A
 gnomAD v4
11g.64751395A=CA1978916143PYGMc.1899T= (p.His633=)
c.1635T= (p.His545=)
n.223T=
11g.64751395A>CCA381169029PYGMc.1899T>G (p.His633Gln)
c.1635T>G (p.His545Gln)
n.223T>G
11g.64751395A>GCA474958889PYGMc.1899T>C (p.His633=)
c.1635T>C (p.His545=)
n.223T>C
 dbSNP gnomAD v4
11g.64751395A>TCA381169032PYGMc.1899T>A (p.His633Gln)
c.1635T>A (p.His545Gln)
n.223T>A
11g.64751396T>ACA381169039PYGMc.1898A>T (p.His633Leu)
c.1634A>T (p.His545Leu)
n.222A>T
11g.64751396T>CCA381169041PYGMc.1898A>G (p.His633Arg)
c.1634A>G (p.His545Arg)
n.222A>G
11g.64751396T>GCA381169052PYGMc.1898A>C (p.His633Pro)
c.1634A>C (p.His545Pro)
n.222A>C
11g.64751397G>ACA381169059PYGMc.1897C>T (p.His633Tyr)
c.1633C>T (p.His545Tyr)
n.221C>T
 dbSNP gnomAD v3 gnomAD v4
11g.64751397G>CCA381169063PYGMc.1897C>G (p.His633Asp)
c.1633C>G (p.His545Asp)
n.221C>G
11g.64751397G=CA1978916156PYGMc.1897C= (p.His633=)
c.1633C= (p.His545=)
n.221C=
11g.64751397G>TCA381169066PYGMc.1897C>A (p.His633Asn)
c.1633C>A (p.His545Asn)
n.221C>A
11g.64751398G>ACA474958890PYGMc.1896C>T (p.Asn632=)
c.1632C>T (p.Asn544=)
n.220C>T
 dbSNP gnomAD v2
11g.64751398G>CCA381169074PYGMc.1896C>G (p.Asn632Lys)
c.1632C>G (p.Asn544Lys)
n.220C>G
11g.64751398G=CA1978916158PYGMc.1896C= (p.Asn632=)
c.1632C= (p.Asn544=)
n.220C=
11g.64751398G>TCA381169071PYGMc.1896C>A (p.Asn632Lys)
c.1632C>A (p.Asn544Lys)
n.220C>A
11g.64751399T>ACA381169078PYGMc.1895A>T (p.Asn632Ile)
c.1631A>T (p.Asn544Ile)
n.219A>T
11g.64751399T>CCA6079682PYGMc.1895A>G (p.Asn632Ser)
c.1631A>G (p.Asn544Ser)
n.219A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64751399T>GCA381169081PYGMc.1895A>C (p.Asn632Thr)
c.1631A>C (p.Asn544Thr)
n.219A>C
 dbSNP gnomAD v3 gnomAD v4
11g.64751399T=CA1978916163PYGMc.1895A= (p.Asn632=)
c.1631A= (p.Asn544=)
n.219A=
11g.64751400T>ACA381169085PYGMc.1894A>T (p.Asn632Tyr)
c.1630A>T (p.Asn544Tyr)
n.218A>T
 gnomAD v4
11g.64751400T>CCA381169087PYGMc.1894A>G (p.Asn632Asp)
c.1630A>G (p.Asn544Asp)
n.218A>G
11g.64751400T>GCA381169091PYGMc.1894A>C (p.Asn632His)
c.1630A>C (p.Asn544His)
n.218A>C
11g.64751401G>ACA474958891PYGMc.1893C>T (p.Val631=)
c.1629C>T (p.Val543=)
n.217C>T
 dbSNP
11g.64751401G>CCA474958892PYGMc.1893C>G (p.Val631=)
c.1629C>G (p.Val543=)
n.217C>G
11g.64751401G=CA1978916165PYGMc.1893C= (p.Val631=)
c.1629C= (p.Val543=)
n.217C=
11g.64751401G>TCA474958893PYGMc.1893C>A (p.Val631=)
c.1629C>A (p.Val543=)
n.217C>A
 gnomAD v4
11g.64751402A>CCA381169094PYGMc.1892T>G (p.Val631Gly)
c.1628T>G (p.Val543Gly)
n.216T>G
11g.64751402A>GCA381169099PYGMc.1892T>C (p.Val631Ala)
c.1628T>C (p.Val543Ala)
n.216T>C
11g.64751402A>TCA381169096PYGMc.1892T>A (p.Val631Asp)
c.1628T>A (p.Val543Asp)
n.216T>A
11g.64751403C>ACA381169104PYGMc.1891G>T (p.Val631Phe)
c.1627G>T (p.Val543Phe)
n.215G>T
11g.64751403C>GCA381169105PYGMc.1891G>C (p.Val631Leu)
c.1627G>C (p.Val543Leu)
n.215G>C
11g.64751403C>TCA381169107PYGMc.1891G>A (p.Val631Ile)
c.1627G>A (p.Val543Ile)
n.215G>A
11g.64751404C>ACA474958894PYGMc.1890G>T (p.Val630=)
c.1626G>T (p.Val542=)
n.214G>T
11g.64751404C>GCA474958895PYGMc.1890G>C (p.Val630=)
c.1626G>C (p.Val542=)
n.214G>C
11g.64751404C>TCA474958896PYGMc.1890G>A (p.Val630=)
c.1626G>A (p.Val542=)
n.214G>A
11g.64751405A>CCA381169110PYGMc.1889T>G (p.Val630Gly)
c.1625T>G (p.Val542Gly)
n.213T>G
11g.64751405A>GCA381169113PYGMc.1889T>C (p.Val630Ala)
c.1625T>C (p.Val542Ala)
n.213T>C
 gnomAD v4
11g.64751405A>TCA381169115PYGMc.1889T>A (p.Val630Glu)
c.1625T>A (p.Val542Glu)
n.213T>A
11g.64751406C>ACA381169122PYGMc.1888G>T (p.Val630Leu)
c.1624G>T (p.Val542Leu)
n.212G>T
11g.64751406C=CA1978916173PYGMc.1888G= (p.Val630=)
c.1624G= (p.Val542=)
n.212G=
11g.64751406C>GCA381169119PYGMc.1888G>C (p.Val630Leu)
c.1624G>C (p.Val542Leu)
n.212G>C
11g.64751406C>TCA6079683PYGMc.1888G>A (p.Val630Met)
c.1624G>A (p.Val542Met)
n.212G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751407A>CCA381169124PYGMc.1887T>G (p.Asp629Glu)
c.1623T>G (p.Asp541Glu)
n.211T>G
11g.64751407A>GCA474958897PYGMc.1887T>C (p.Asp629=)
c.1623T>C (p.Asp541=)
n.211T>C
11g.64751407A>TCA381169126PYGMc.1887T>A (p.Asp629Glu)
c.1623T>A (p.Asp541Glu)
n.211T>A
11g.64751408T>ACA381169128PYGMc.1886A>T (p.Asp629Val)
c.1622A>T (p.Asp541Val)
n.210A>T
11g.64751408T>CCA381169129PYGMc.1886A>G (p.Asp629Gly)
c.1622A>G (p.Asp541Gly)
n.210A>G
 ClinVar dbSNP
11g.64751408T>GCA381169131PYGMc.1886A>C (p.Asp629Ala)
c.1622A>C (p.Asp541Ala)
n.210A>C
 dbSNP
11g.64751408T=CA1978916187PYGMc.1886A= (p.Asp629=)
c.1622A= (p.Asp541=)
n.210A=
11g.64751409C>ACA6079684PYGMc.1885G>T (p.Asp629Tyr)
c.1621G>T (p.Asp541Tyr)
n.209G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751409C=CA1978916190PYGMc.1885G= (p.Asp629=)
c.1621G= (p.Asp541=)
n.209G=
11g.64751409C>GCA381169136PYGMc.1885G>C (p.Asp629His)
c.1621G>C (p.Asp541His)
n.209G>C
11g.64751409C>TCA381169134PYGMc.1885G>A (p.Asp629Asn)
c.1621G>A (p.Asp541Asn)
n.209G>A
 gnomAD v4
11g.64751410C>ACA474958898PYGMc.1884G>T (p.Gly628=)
c.1620G>T (p.Gly540=)
n.208G>T
11g.64751410C>GCA474958899PYGMc.1884G>C (p.Gly628=)
c.1620G>C (p.Gly540=)
n.208G>C
11g.64751410C>TCA474958900PYGMc.1884G>A (p.Gly628=)
c.1620G>A (p.Gly540=)
n.208G>A
11g.64751411C>ACA381169138PYGMc.1883G>T (p.Gly628Val)
c.1619G>T (p.Gly540Val)
n.207G>T
11g.64751411C=CA1978916192PYGMc.1883G= (p.Gly628=)
c.1619G= (p.Gly540=)
n.207G=
11g.64751411C>GCA381169140PYGMc.1883G>C (p.Gly628Ala)
c.1619G>C (p.Gly540Ala)
n.207G>C
11g.64751411C>TCA223898274PYGMc.1883G>A (p.Gly628Glu)
c.1619G>A (p.Gly540Glu)
n.207G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64751412C>ACA381169143PYGMc.1882G>T (p.Gly628Trp)
c.1618G>T (p.Gly540Trp)
n.206G>T
11g.64751412C=CA1978916193PYGMc.1882G= (p.Gly628=)
c.1618G= (p.Gly540=)
n.206G=
11g.64751412C>GCA381169145PYGMc.1882G>C (p.Gly628Arg)
c.1618G>C (p.Gly540Arg)
n.206G>C
11g.64751412C>TCA6079685PYGMc.1882G>A (p.Gly628Arg)
c.1618G>A (p.Gly540Arg)
n.206G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751413G>ACA6079686PYGMc.1881C>T (p.Ile627=)
c.1617C>T (p.Ile539=)
n.205C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751413G>CCA381169149PYGMc.1881C>G (p.Ile627Met)
c.1617C>G (p.Ile539Met)
n.205C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64751413G=CA1978916199PYGMc.1881C= (p.Ile627=)
c.1617C= (p.Ile539=)
n.205C=
11g.64751413G>TCA474958901PYGMc.1881C>A (p.Ile627=)
c.1617C>A (p.Ile539=)
n.205C>A
 COSMIC
11g.64751414A=CA1978916203PYGMc.1880T= (p.Ile627=)
c.1616T= (p.Ile539=)
n.204T=
11g.64751414A>CCA381169151PYGMc.1880T>G (p.Ile627Ser)
c.1616T>G (p.Ile539Ser)
n.204T>G
11g.64751414A>GCA381169153PYGMc.1880T>C (p.Ile627Thr)
c.1616T>C (p.Ile539Thr)
n.204T>C
 gnomAD v4
11g.64751414A>TCA6079687PYGMc.1880T>A (p.Ile627Asn)
c.1616T>A (p.Ile539Asn)
n.204T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751415T>ACA381169159PYGMc.1879A>T (p.Ile627Phe)
c.1615A>T (p.Ile539Phe)
n.203A>T
11g.64751415T>CCA381169165PYGMc.1879A>G (p.Ile627Val)
c.1615A>G (p.Ile539Val)
n.203A>G
 gnomAD v4
11g.64751415T>GCA381169162PYGMc.1879A>C (p.Ile627Leu)
c.1615A>C (p.Ile539Leu)
n.203A>C
 dbSNP
11g.64751415T=CA1978916204PYGMc.1879A= (p.Ile627=)
c.1615A= (p.Ile539=)
n.203A=
11g.64751416G>ACA6079688PYGMc.1878C>T (p.Ala626=)
c.1614C>T (p.Ala538=)
n.202C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64751416G>CCA474958902PYGMc.1878C>G (p.Ala626=)
c.1614C>G (p.Ala538=)
n.202C>G
11g.64751416G=CA1978916208PYGMc.1878C= (p.Ala626=)
c.1614C= (p.Ala538=)
n.202C=
11g.64751416G>TCA474958903PYGMc.1878C>A (p.Ala626=)
c.1614C>A (p.Ala538=)
n.202C>A
11g.64751417G>ACA381169174PYGMc.1877C>T (p.Ala626Val)
c.1613C>T (p.Ala538Val)
n.201C>T
11g.64751417G>CCA381169170PYGMc.1877C>G (p.Ala626Gly)
c.1613C>G (p.Ala538Gly)
n.201C>G
11g.64751417G>TCA381169172PYGMc.1877C>A (p.Ala626Asp)
c.1613C>A (p.Ala538Asp)
n.201C>A
11g.64751418C>ACA381169180PYGMc.1876G>T (p.Ala626Ser)
c.1612G>T (p.Ala538Ser)
n.200G>T
11g.64751418C>GCA381169182PYGMc.1876G>C (p.Ala626Pro)
c.1612G>C (p.Ala538Pro)
n.200G>C
11g.64751418C>TCA381169184PYGMc.1876G>A (p.Ala626Thr)
c.1612G>A (p.Ala538Thr)
n.200G>A
11g.64751419T>ACA474958904PYGMc.1875A>T (p.Thr625=)
c.1611A>T (p.Thr537=)
n.199A>T
11g.64751419T>CCA474958906PYGMc.1875A>G (p.Thr625=)
c.1611A>G (p.Thr537=)
n.199A>G
11g.64751419T>GCA474958905PYGMc.1875A>C (p.Thr625=)
c.1611A>C (p.Thr537=)
n.199A>C
11g.64751421_64751422delCA2614192390PYGMc.1874_1875del (p.Thr625SerfsTer9)
c.1610_1611del (p.Thr537SerfsTer9)
n.198_199del
 gnomAD v4
11g.64751420G>ACA381169187PYGMc.1874C>T (p.Thr625Ile)
c.1610C>T (p.Thr537Ile)
n.198C>T
 ClinVar dbSNP
11g.64751420G>CCA381169189PYGMc.1874C>G (p.Thr625Arg)
c.1610C>G (p.Thr537Arg)
n.198C>G
11g.64751420G=CA1978916216PYGMc.1874C= (p.Thr625=)
c.1610C= (p.Thr537=)
n.198C=
11g.64751420G>TCA381169191PYGMc.1874C>A (p.Thr625Lys)
c.1610C>A (p.Thr537Lys)
n.198C>A
11g.64751421T>ACA381169195PYGMc.1873A>T (p.Thr625Ser)
c.1609A>T (p.Thr537Ser)
n.197A>T
11g.64751421T>CCA381169198PYGMc.1873A>G (p.Thr625Ala)
c.1609A>G (p.Thr537Ala)
n.197A>G
11g.64751421T>GCA381169202PYGMc.1873A>C (p.Thr625Pro)
c.1609A>C (p.Thr537Pro)
n.197A>C
11g.64751422G>ACA474958908PYGMc.1872C>T (p.Val624=)
c.1608C>T (p.Val536=)
n.196C>T
11g.64751422G>CCA474958907PYGMc.1872C>G (p.Val624=)
c.1608C>G (p.Val536=)
n.196C>G
11g.64751422G=CA1978916223PYGMc.1872C= (p.Val624=)
c.1608C= (p.Val536=)
n.196C=
11g.64751422G>TCA6079689PYGMc.1872C>A (p.Val624=)
c.1608C>A (p.Val536=)
n.196C>A
 dbSNP ExAC
11g.64751423A>CCA381169208PYGMc.1871T>G (p.Val624Gly)
c.1607T>G (p.Val536Gly)
n.195T>G
11g.64751423A>GCA381169205PYGMc.1871T>C (p.Val624Ala)
c.1607T>C (p.Val536Ala)
n.195T>C
 gnomAD v4
11g.64751423A>TCA381169204PYGMc.1871T>A (p.Val624Asp)
c.1607T>A (p.Val536Asp)
n.195T>A
11g.64751424C>ACA381169212PYGMc.1870G>T (p.Val624Phe)
c.1606G>T (p.Val536Phe)
n.194G>T
11g.64751424C=CA1978916251PYGMc.1870G= (p.Val624=)
c.1606G= (p.Val536=)
n.194G=
11g.64751424C>GCA381169214PYGMc.1870G>C (p.Val624Leu)
c.1606G>C (p.Val536Leu)
n.194G>C
11g.64751424C>TCA6079690PYGMc.1870G>A (p.Val624Ile)
c.1606G>A (p.Val536Ile)
n.194G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751425G>ACA6079691PYGMc.1869C>T (p.Leu623=)
c.1605C>T (p.Leu535=)
n.193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751425G>CCA474958910PYGMc.1869C>G (p.Leu623=)
c.1605C>G (p.Leu535=)
n.193C>G
11g.64751425G=CA1978916261PYGMc.1869C= (p.Leu623=)
c.1605C= (p.Leu535=)
n.193C=
11g.64751425G>TCA474958909PYGMc.1869C>A (p.Leu623=)
c.1605C>A (p.Leu535=)
n.193C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.64751426A>CCA381169215PYGMc.1868T>G (p.Leu623Arg)
c.1604T>G (p.Leu535Arg)
n.192T>G
11g.64751426A>GCA381169216PYGMc.1868T>C (p.Leu623Pro)
c.1604T>C (p.Leu535Pro)
n.192T>C
11g.64751426A>TCA381169217PYGMc.1868T>A (p.Leu623His)
c.1604T>A (p.Leu535His)
n.192T>A
11g.64751427G>ACA381169219PYGMc.1867C>T (p.Leu623Phe)
c.1603C>T (p.Leu535Phe)
n.191C>T
11g.64751427G>CCA381169221PYGMc.1867C>G (p.Leu623Val)
c.1603C>G (p.Leu535Val)
n.191C>G
11g.64751427G>TCA381169223PYGMc.1867C>A (p.Leu623Ile)
c.1603C>A (p.Leu535Ile)
n.191C>A
11g.64751428T>ACA381169225PYGMc.1866A>T (p.Arg622Ser)
c.1602A>T (p.Arg534Ser)
n.190A>T
11g.64751428T>CCA474958911PYGMc.1866A>G (p.Arg622=)
c.1602A>G (p.Arg534=)
n.190A>G
 dbSNP
11g.64751428T>GCA381169230PYGMc.1866A>C (p.Arg622Ser)
c.1602A>C (p.Arg534Ser)
n.190A>C
11g.64751428T=CA1978916274PYGMc.1866A= (p.Arg622=)
c.1602A= (p.Arg534=)
n.190A=
11g.64751429C>ACA381169241PYGMc.1865G>T (p.Arg622Ile)
c.1601G>T (p.Arg534Ile)
n.189G>T
 gnomAD v4
11g.64751429C>GCA381169238PYGMc.1865G>C (p.Arg622Thr)
c.1601G>C (p.Arg534Thr)
n.189G>C
11g.64751429C>TCA381169234PYGMc.1865G>A (p.Arg622Lys)
c.1601G>A (p.Arg534Lys)
n.189G>A
11g.64751430T>ACA381169246PYGMc.1864A>T (p.Arg622Ter)
c.1600A>T (p.Arg534Ter)
n.188A>T
11g.64751430T>CCA381169249PYGMc.1864A>G (p.Arg622Gly)
c.1600A>G (p.Arg534Gly)
n.188A>G
11g.64751430T>GCA474958912PYGMc.1864A>C (p.Arg622=)
c.1600A>C (p.Arg534=)
n.188A>C
11g.64751431G>ACA474958913PYGMc.1863C>T (p.Ile621=)
c.1599C>T (p.Ile533=)
n.187C>T
 ClinVar dbSNP
11g.64751431G>CCA381169253PYGMc.1863C>G (p.Ile621Met)
c.1599C>G (p.Ile533Met)
n.187C>G
11g.64751431G=CA1978916281PYGMc.1863C= (p.Ile621=)
c.1599C= (p.Ile533=)
n.187C=
11g.64751431G>TCA474958914PYGMc.1863C>A (p.Ile621=)
c.1599C>A (p.Ile533=)
n.187C>A
11g.64751432A>CCA381169255PYGMc.1862T>G (p.Ile621Ser)
c.1598T>G (p.Ile533Ser)
n.186T>G
11g.64751432A>GCA381169256PYGMc.1862T>C (p.Ile621Thr)
c.1598T>C (p.Ile533Thr)
n.186T>C
11g.64751432A>TCA381169258PYGMc.1862T>A (p.Ile621Asn)
c.1598T>A (p.Ile533Asn)
n.186T>A
11g.64751433T>ACA381169267PYGMc.1861A>T (p.Ile621Phe)
c.1597A>T (p.Ile533Phe)
n.185A>T
11g.64751433T>CCA381169262PYGMc.1861A>G (p.Ile621Val)
c.1597A>G (p.Ile533Val)
n.185A>G
11g.64751433T>GCA381169265PYGMc.1861A>C (p.Ile621Leu)
c.1597A>C (p.Ile533Leu)
n.185A>C
11g.64751434G>ACA6079692PYGMc.1860C>T (p.Ile620=)
c.1596C>T (p.Ile532=)
n.184C>T
 dbSNP ExAC gnomAD v2 COSMIC
11g.64751434G>CCA381169273PYGMc.1860C>G (p.Ile620Met)
c.1596C>G (p.Ile532Met)
n.184C>G
11g.64751434G=CA1978916286PYGMc.1860C= (p.Ile620=)
c.1596C= (p.Ile532=)
n.184C=
11g.64751434G>TCA474958915PYGMc.1860C>A (p.Ile620=)
c.1596C>A (p.Ile532=)
n.184C>A
11g.64751435A=CA1978916292PYGMc.1859T= (p.Ile620=)
c.1595T= (p.Ile532=)
n.183T=
11g.64751435A>CCA381169277PYGMc.1859T>G (p.Ile620Ser)
c.1595T>G (p.Ile532Ser)
n.183T>G
11g.64751435A>GCA6079693PYGMc.1859T>C (p.Ile620Thr)
c.1595T>C (p.Ile532Thr)
n.183T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751435A>TCA381169280PYGMc.1859T>A (p.Ile620Asn)
c.1595T>A (p.Ile532Asn)
n.183T>A
11g.64751436T>ACA381169283PYGMc.1858A>T (p.Ile620Phe)
c.1594A>T (p.Ile532Phe)
n.182A>T
 dbSNP gnomAD v2
11g.64751436T>CCA381169285PYGMc.1858A>G (p.Ile620Val)
c.1594A>G (p.Ile532Val)
n.182A>G
11g.64751436T>GCA381169284PYGMc.1858A>C (p.Ile620Leu)
c.1594A>C (p.Ile532Leu)
n.182A>C
11g.64751436T=CA1978916298PYGMc.1858A= (p.Ile620=)
c.1594A= (p.Ile532=)
n.182A=
11g.64751437C>ACA381169286PYGMc.1857G>T (p.Met619Ile)
c.1593G>T (p.Met531Ile)
n.181G>T
11g.64751437C>GCA381169288PYGMc.1857G>C (p.Met619Ile)
c.1593G>C (p.Met531Ile)
n.181G>C
11g.64751437C>TCA381169289PYGMc.1857G>A (p.Met619Ile)
c.1593G>A (p.Met531Ile)
n.181G>A
11g.64751438A>CCA381169291PYGMc.1856T>G (p.Met619Arg)
c.1592T>G (p.Met531Arg)
n.180T>G
11g.64751438A>GCA381169292PYGMc.1856T>C (p.Met619Thr)
c.1592T>C (p.Met531Thr)
n.180T>C
11g.64751438A>TCA381169293PYGMc.1856T>A (p.Met619Lys)
c.1592T>A (p.Met531Lys)
n.180T>A
11g.64751439T>ACA381169294PYGMc.1855A>T (p.Met619Leu)
c.1591A>T (p.Met531Leu)
n.179A>T
11g.64751439T>CCA381169297PYGMc.1855A>G (p.Met619Val)
c.1591A>G (p.Met531Val)
n.179A>G
11g.64751439T>GCA381169299PYGMc.1855A>C (p.Met619Leu)
c.1591A>C (p.Met531Leu)
n.179A>C
11g.64751440C>ACA381169303PYGMc.1854G>T (p.Lys618Asn)
c.1590G>T (p.Lys530Asn)
n.178G>T
11g.64751440C=CA1978916302PYGMc.1854G= (p.Lys618=)
c.1590G= (p.Lys530=)
n.178G=
11g.64751440C>GCA381169310PYGMc.1854G>C (p.Lys618Asn)
c.1590G>C (p.Lys530Asn)
n.178G>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.64751440C>TCA474958916PYGMc.1854G>A (p.Lys618=)
c.1590G>A (p.Lys530=)
n.178G>A
11g.64751441T>ACA381169318PYGMc.1853A>T (p.Lys618Met)
c.1589A>T (p.Lys530Met)
n.177A>T
11g.64751441T>CCA381169316PYGMc.1853A>G (p.Lys618Arg)
c.1589A>G (p.Lys530Arg)
n.177A>G
11g.64751441T>GCA381169315PYGMc.1853A>C (p.Lys618Thr)
c.1589A>C (p.Lys530Thr)
n.177A>C
11g.64751442dupCA2573147418PYGMc.1853dup (p.Met619AspfsTer16)
c.1589dup (p.Met531AspfsTer16)
n.177dup
 ClinVar dbSNP
11g.64751442T>ACA381169321PYGMc.1852A>T (p.Lys618Ter)
c.1588A>T (p.Lys530Ter)
n.176A>T
11g.64751442T>CCA381169323PYGMc.1852A>G (p.Lys618Glu)
c.1588A>G (p.Lys530Glu)
n.176A>G
11g.64751442T>GCA381169322PYGMc.1852A>C (p.Lys618Gln)
c.1588A>C (p.Lys530Gln)
n.176A>C
11g.64751443G>ACA474958917PYGMc.1851C>T (p.Ala617=)
c.1587C>T (p.Ala529=)
n.175C>T
11g.64751443G>CCA474958918PYGMc.1851C>G (p.Ala617=)
c.1587C>G (p.Ala529=)
n.175C>G
11g.64751443G>TCA474958919PYGMc.1851C>A (p.Ala617=)
c.1587C>A (p.Ala529=)
n.175C>A
11g.64751444G>ACA381169325PYGMc.1850C>T (p.Ala617Val)
c.1586C>T (p.Ala529Val)
n.174C>T
11g.64751444G>CCA381169337PYGMc.1850C>G (p.Ala617Gly)
c.1586C>G (p.Ala529Gly)
n.174C>G
11g.64751444G>TCA381169336PYGMc.1850C>A (p.Ala617Asp)
c.1586C>A (p.Ala529Asp)
n.174C>A
11g.64751445C>ACA381169338PYGMc.1849G>T (p.Ala617Ser)
c.1585G>T (p.Ala529Ser)
n.173G>T
11g.64751445C>GCA381169341PYGMc.1849G>C (p.Ala617Pro)
c.1585G>C (p.Ala529Pro)
n.173G>C
11g.64751445C>TCA381169339PYGMc.1849G>A (p.Ala617Thr)
c.1585G>A (p.Ala529Thr)
n.173G>A
 COSMIC
11g.64751446C>ACA381169343PYGMc.1848G>T (p.Met616Ile)
c.1584G>T (p.Met528Ile)
n.172G>T
11g.64751446C>GCA381169348PYGMc.1848G>C (p.Met616Ile)
c.1584G>C (p.Met528Ile)
n.172G>C
11g.64751446C>TCA381169345PYGMc.1848G>A (p.Met616Ile)
c.1584G>A (p.Met528Ile)
n.172G>A
11g.64751447A>CCA381169351PYGMc.1847T>G (p.Met616Arg)
c.1583T>G (p.Met528Arg)
n.171T>G
11g.64751447A>GCA381169355PYGMc.1847T>C (p.Met616Thr)
c.1583T>C (p.Met528Thr)
n.171T>C
 gnomAD v4
11g.64751447A>TCA381169353PYGMc.1847T>A (p.Met616Lys)
c.1583T>A (p.Met528Lys)
n.171T>A
11g.64751448T>ACA381169360PYGMc.1846A>T (p.Met616Leu)
c.1582A>T (p.Met528Leu)
n.170A>T
11g.64751448T>CCA6079694PYGMc.1846A>G (p.Met616Val)
c.1582A>G (p.Met528Val)
n.170A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751448T>GCA381169364PYGMc.1846A>C (p.Met616Leu)
c.1582A>C (p.Met528Leu)
n.170A>C
11g.64751448T=CA1978916312PYGMc.1846A= (p.Met616=)
c.1582A= (p.Met528=)
n.170A=
11g.64751449G>ACA6079695PYGMc.1845C>T (p.His615=)
c.1581C>T (p.His527=)
n.169C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64751449G>CCA381169374PYGMc.1845C>G (p.His615Gln)
c.1581C>G (p.His527Gln)
n.169C>G
11g.64751449G=CA1978916319PYGMc.1845C= (p.His615=)
c.1581C= (p.His527=)
n.169C=
11g.64751449G>TCA381169371PYGMc.1845C>A (p.His615Gln)
c.1581C>A (p.His527Gln)
n.169C>A

Number of alleles fetched