Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99420673A=CA1479994261ADH7c.685T= (p.Phe229=)
c.721T= (p.Phe241=)
c.745T= (p.Phe249=)
c.514T= (p.Phe172=)
4g.99420673A>CCA357497641ADH7c.685T>G (p.Phe229Val)
c.721T>G (p.Phe241Val)
c.745T>G (p.Phe249Val)
c.514T>G (p.Phe172Val)
4g.99420673A>GCA357497642ADH7c.685T>C (p.Phe229Leu)
c.721T>C (p.Phe241Leu)
c.745T>C (p.Phe249Leu)
c.514T>C (p.Phe172Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420673A>TCA357497643ADH7c.685T>A (p.Phe229Ile)
c.721T>A (p.Phe241Ile)
c.745T>A (p.Phe249Ile)
c.514T>A (p.Phe172Ile)
4g.99420674T>ACA357497644ADH7c.684A>T (p.Lys228Asn)
c.720A>T (p.Lys240Asn)
c.744A>T (p.Lys248Asn)
c.513A>T (p.Lys171Asn)
 COSMIC COSMIC
4g.99420674T>CCA3020752ADH7c.684A>G (p.Lys228=)
c.720A>G (p.Lys240=)
c.744A>G (p.Lys248=)
c.513A>G (p.Lys171=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420674T>GCA357497645ADH7c.684A>C (p.Lys228Asn)
c.720A>C (p.Lys240Asn)
c.744A>C (p.Lys248Asn)
c.513A>C (p.Lys171Asn)
4g.99420674T=CA1479994265ADH7c.684A= (p.Lys228=)
c.720A= (p.Lys240=)
c.744A= (p.Lys248=)
c.513A= (p.Lys171=)
4g.99420676delCA2671525114ADH7c.684del (p.Lys228AsnfsTer8)
c.720del (p.Lys240AsnfsTer8)
c.744del (p.Lys248AsnfsTer8)
c.513del (p.Lys171AsnfsTer8)
 gnomAD v4
4g.99420675T>ACA357497646ADH7c.683A>T (p.Lys228Ile)
c.719A>T (p.Lys240Ile)
c.743A>T (p.Lys248Ile)
c.512A>T (p.Lys171Ile)
4g.99420675T>CCA357497647ADH7c.683A>G (p.Lys228Arg)
c.719A>G (p.Lys240Arg)
c.743A>G (p.Lys248Arg)
c.512A>G (p.Lys171Arg)
4g.99420675T>GCA357497648ADH7c.683A>C (p.Lys228Thr)
c.719A>C (p.Lys240Thr)
c.743A>C (p.Lys248Thr)
c.512A>C (p.Lys171Thr)
4g.99420676T>ACA357497649ADH7c.682A>T (p.Lys228Ter)
c.718A>T (p.Lys240Ter)
c.742A>T (p.Lys248Ter)
c.511A>T (p.Lys171Ter)
 dbSNP gnomAD v3 gnomAD v4
4g.99420676T>CCA357497650ADH7c.682A>G (p.Lys228Glu)
c.718A>G (p.Lys240Glu)
c.742A>G (p.Lys248Glu)
c.511A>G (p.Lys171Glu)
4g.99420676T>GCA3020753ADH7c.682A>C (p.Lys228Gln)
c.718A>C (p.Lys240Gln)
c.742A>C (p.Lys248Gln)
c.511A>C (p.Lys171Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420676T=CA1479994269ADH7c.682A= (p.Lys228=)
c.718A= (p.Lys240=)
c.742A= (p.Lys248=)
c.511A= (p.Lys171=)
4g.99420677G>ACA440506437ADH7c.681C>T (p.Asp227=)
c.717C>T (p.Asp239=)
c.741C>T (p.Asp247=)
c.510C>T (p.Asp170=)
4g.99420677G>CCA357497651ADH7c.681C>G (p.Asp227Glu)
c.717C>G (p.Asp239Glu)
c.741C>G (p.Asp247Glu)
c.510C>G (p.Asp170Glu)
4g.99420677G>TCA357497652ADH7c.681C>A (p.Asp227Glu)
c.717C>A (p.Asp239Glu)
c.741C>A (p.Asp247Glu)
c.510C>A (p.Asp170Glu)
4g.99420677_99420682delinsGTCTTTCA1479994272ADH7c.676_681delinsAAAGAC (p.Lys226=)
c.712_717delinsAAAGAC (p.Lys238=)
c.736_741delinsAAAGAC (p.Lys246=)
c.505_510delinsAAAGAC (p.Lys169=)
4g.99420678T>ACA357497653ADH7c.680A>T (p.Asp227Val)
c.716A>T (p.Asp239Val)
c.740A>T (p.Asp247Val)
c.509A>T (p.Asp170Val)
4g.99420678T>CCA357497654ADH7c.680A>G (p.Asp227Gly)
c.716A>G (p.Asp239Gly)
c.740A>G (p.Asp247Gly)
c.509A>G (p.Asp170Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.99420678T>GCA357497655ADH7c.680A>C (p.Asp227Ala)
c.716A>C (p.Asp239Ala)
c.740A>C (p.Asp247Ala)
c.509A>C (p.Asp170Ala)
4g.99420678T=CA1479994278ADH7c.680A= (p.Asp227=)
c.716A= (p.Asp239=)
c.740A= (p.Asp247=)
c.509A= (p.Asp170=)
4g.99420678_99420682delCA3020754ADH7c.676_680del (p.Lys226GlnfsTer3)
c.712_716del (p.Lys238GlnfsTer3)
c.736_740del (p.Lys246GlnfsTer3)
c.505_509del (p.Lys169GlnfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420679C>ACA357497656ADH7c.679G>T (p.Asp227Tyr)
c.715G>T (p.Asp239Tyr)
c.739G>T (p.Asp247Tyr)
c.508G>T (p.Asp170Tyr)
4g.99420679C>GCA357497657ADH7c.679G>C (p.Asp227His)
c.715G>C (p.Asp239His)
c.739G>C (p.Asp247His)
c.508G>C (p.Asp170His)
4g.99420679C>TCA357497658ADH7c.679G>A (p.Asp227Asn)
c.715G>A (p.Asp239Asn)
c.739G>A (p.Asp247Asn)
c.508G>A (p.Asp170Asn)
4g.99420680T>ACA357497659ADH7c.678A>T (p.Lys226Asn)
c.714A>T (p.Lys238Asn)
c.738A>T (p.Lys246Asn)
c.507A>T (p.Lys169Asn)
4g.99420680T>CCA440506438ADH7c.678A>G (p.Lys226=)
c.714A>G (p.Lys238=)
c.738A>G (p.Lys246=)
c.507A>G (p.Lys169=)
 COSMIC COSMIC
4g.99420680T>GCA357497660ADH7c.678A>C (p.Lys226Asn)
c.714A>C (p.Lys238Asn)
c.738A>C (p.Lys246Asn)
c.507A>C (p.Lys169Asn)
4g.99420681T>ACA357497661ADH7c.677A>T (p.Lys226Ile)
c.713A>T (p.Lys238Ile)
c.737A>T (p.Lys246Ile)
c.506A>T (p.Lys169Ile)
4g.99420681T>CCA102646045ADH7c.677A>G (p.Lys226Arg)
c.713A>G (p.Lys238Arg)
c.737A>G (p.Lys246Arg)
c.506A>G (p.Lys169Arg)
 dbSNP
4g.99420681T>GCA357497662ADH7c.677A>C (p.Lys226Thr)
c.713A>C (p.Lys238Thr)
c.737A>C (p.Lys246Thr)
c.506A>C (p.Lys169Thr)
4g.99420681T=CA1479994280ADH7c.677A= (p.Lys226=)
c.713A= (p.Lys238=)
c.737A= (p.Lys246=)
c.506A= (p.Lys169=)
4g.99420682T>ACA357497664ADH7c.676A>T (p.Lys226Ter)
c.712A>T (p.Lys238Ter)
c.736A>T (p.Lys246Ter)
c.505A>T (p.Lys169Ter)
4g.99420682T>CCA3020755ADH7c.676A>G (p.Lys226Glu)
c.712A>G (p.Lys238Glu)
c.736A>G (p.Lys246Glu)
c.505A>G (p.Lys169Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420682T>GCA357497663ADH7c.676A>C (p.Lys226Gln)
c.712A>C (p.Lys238Gln)
c.736A>C (p.Lys246Gln)
c.505A>C (p.Lys169Gln)
4g.99420682T=CA1479994288ADH7c.676A= (p.Lys226=)
c.712A= (p.Lys238=)
c.736A= (p.Lys246=)
c.505A= (p.Lys169=)
4g.99420683G>ACA440506439ADH7c.675C>T (p.Asn225=)
c.711C>T (p.Asn237=)
c.735C>T (p.Asn245=)
c.504C>T (p.Asn168=)
 gnomAD v4
4g.99420683G>CCA357497665ADH7c.675C>G (p.Asn225Lys)
c.711C>G (p.Asn237Lys)
c.735C>G (p.Asn245Lys)
c.504C>G (p.Asn168Lys)
 gnomAD v4
4g.99420683G=CA1479994292ADH7c.675C= (p.Asn225=)
c.711C= (p.Asn237=)
c.735C= (p.Asn245=)
c.504C= (p.Asn168=)
4g.99420683G>TCA357497666ADH7c.675C>A (p.Asn225Lys)
c.711C>A (p.Asn237Lys)
c.735C>A (p.Asn245Lys)
c.504C>A (p.Asn168Lys)
4g.99420683_99420684insACA3020756ADH7c.674_675insT (p.Lys226GlnfsTer5)
c.710_711insT (p.Lys238GlnfsTer5)
c.734_735insT (p.Lys246GlnfsTer5)
c.503_504insT (p.Lys169GlnfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420684T>ACA357497667ADH7c.674A>T (p.Asn225Ile)
c.710A>T (p.Asn237Ile)
c.734A>T (p.Asn245Ile)
c.503A>T (p.Asn168Ile)
4g.99420684T>CCA3020757ADH7c.674A>G (p.Asn225Ser)
c.710A>G (p.Asn237Ser)
c.734A>G (p.Asn245Ser)
c.503A>G (p.Asn168Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420684T>GCA357497668ADH7c.674A>C (p.Asn225Thr)
c.710A>C (p.Asn237Thr)
c.734A>C (p.Asn245Thr)
c.503A>C (p.Asn168Thr)
4g.99420684T=CA1479994295ADH7c.674A= (p.Asn225=)
c.710A= (p.Asn237=)
c.734A= (p.Asn245=)
c.503A= (p.Asn168=)
4g.99420685T>ACA357497669ADH7c.673A>T (p.Asn225Tyr)
c.709A>T (p.Asn237Tyr)
c.733A>T (p.Asn245Tyr)
c.502A>T (p.Asn168Tyr)
4g.99420685T>CCA357497671ADH7c.673A>G (p.Asn225Asp)
c.709A>G (p.Asn237Asp)
c.733A>G (p.Asn245Asp)
c.502A>G (p.Asn168Asp)
4g.99420685T>GCA357497670ADH7c.673A>C (p.Asn225His)
c.709A>C (p.Asn237His)
c.733A>C (p.Asn245His)
c.502A>C (p.Asn168His)
4g.99420686G>ACA3020758ADH7c.672C>T (p.Leu224=)
c.708C>T (p.Leu236=)
c.732C>T (p.Leu244=)
c.501C>T (p.Leu167=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420686G>CCA440506440ADH7c.672C>G (p.Leu224=)
c.708C>G (p.Leu236=)
c.732C>G (p.Leu244=)
c.501C>G (p.Leu167=)
4g.99420686G=CA1479994300ADH7c.672C= (p.Leu224=)
c.708C= (p.Leu236=)
c.732C= (p.Leu244=)
c.501C= (p.Leu167=)
4g.99420686G>TCA440506441ADH7c.672C>A (p.Leu224=)
c.708C>A (p.Leu236=)
c.732C>A (p.Leu244=)
c.501C>A (p.Leu167=)
4g.99420687A=CA1479994304ADH7c.671T= (p.Leu224=)
c.707T= (p.Leu236=)
c.731T= (p.Leu244=)
c.500T= (p.Leu167=)
4g.99420687A>CCA357497672ADH7c.671T>G (p.Leu224Arg)
c.707T>G (p.Leu236Arg)
c.731T>G (p.Leu244Arg)
c.500T>G (p.Leu167Arg)
 dbSNP
4g.99420687A>GCA357497673ADH7c.671T>C (p.Leu224Pro)
c.707T>C (p.Leu236Pro)
c.731T>C (p.Leu244Pro)
c.500T>C (p.Leu167Pro)
4g.99420687A>TCA357497674ADH7c.671T>A (p.Leu224His)
c.707T>A (p.Leu236His)
c.731T>A (p.Leu244His)
c.500T>A (p.Leu167His)
4g.99420688G>ACA102646078ADH7c.670C>T (p.Leu224Phe)
c.706C>T (p.Leu236Phe)
c.730C>T (p.Leu244Phe)
c.499C>T (p.Leu167Phe)
 dbSNP gnomAD v4
4g.99420688G>CCA357497676ADH7c.670C>G (p.Leu224Val)
c.706C>G (p.Leu236Val)
c.730C>G (p.Leu244Val)
c.499C>G (p.Leu167Val)
4g.99420688G=CA1479994307ADH7c.670C= (p.Leu224=)
c.706C= (p.Leu236=)
c.730C= (p.Leu244=)
c.499C= (p.Leu167=)
4g.99420688G>TCA357497675ADH7c.670C>A (p.Leu224Ile)
c.706C>A (p.Leu236Ile)
c.730C>A (p.Leu244Ile)
c.499C>A (p.Leu167Ile)
4g.99420689G>ACA440506442ADH7c.669C>T (p.Asp223=)
c.705C>T (p.Asp235=)
c.729C>T (p.Asp243=)
c.498C>T (p.Asp166=)
4g.99420689G>CCA357497677ADH7c.669C>G (p.Asp223Glu)
c.705C>G (p.Asp235Glu)
c.729C>G (p.Asp243Glu)
c.498C>G (p.Asp166Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.99420689G=CA1479994310ADH7c.669C= (p.Asp223=)
c.705C= (p.Asp235=)
c.729C= (p.Asp243=)
c.498C= (p.Asp166=)
4g.99420689G>TCA102646133ADH7c.669C>A (p.Asp223Glu)
c.705C>A (p.Asp235Glu)
c.729C>A (p.Asp243Glu)
c.498C>A (p.Asp166Glu)
 dbSNP gnomAD v4
4g.99420690T>ACA357497678ADH7c.668A>T (p.Asp223Val)
c.704A>T (p.Asp235Val)
c.728A>T (p.Asp243Val)
c.497A>T (p.Asp166Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420690T>CCA357497679ADH7c.668A>G (p.Asp223Gly)
c.704A>G (p.Asp235Gly)
c.728A>G (p.Asp243Gly)
c.497A>G (p.Asp166Gly)
4g.99420690T>GCA357497680ADH7c.668A>C (p.Asp223Ala)
c.704A>C (p.Asp235Ala)
c.728A>C (p.Asp243Ala)
c.497A>C (p.Asp166Ala)
4g.99420690T=CA1479994314ADH7c.668A= (p.Asp223=)
c.704A= (p.Asp235=)
c.728A= (p.Asp243=)
c.497A= (p.Asp166=)
4g.99420691C>ACA357497681ADH7c.667G>T (p.Asp223Tyr)
c.703G>T (p.Asp235Tyr)
c.727G>T (p.Asp243Tyr)
c.496G>T (p.Asp166Tyr)
 gnomAD v4
4g.99420691C>GCA357497682ADH7c.667G>C (p.Asp223His)
c.703G>C (p.Asp235His)
c.727G>C (p.Asp243His)
c.496G>C (p.Asp166His)
 gnomAD v4
4g.99420691C>TCA357497683ADH7c.667G>A (p.Asp223Asn)
c.703G>A (p.Asp235Asn)
c.727G>A (p.Asp243Asn)
c.496G>A (p.Asp166Asn)
4g.99420692A=CA1479994316ADH7c.666T= (p.Ile222=)
c.702T= (p.Ile234=)
c.726T= (p.Ile242=)
c.495T= (p.Ile165=)
4g.99420692A>CCA357497684ADH7c.666T>G (p.Ile222Met)
c.702T>G (p.Ile234Met)
c.726T>G (p.Ile242Met)
c.495T>G (p.Ile165Met)
4g.99420692A>GCA440506443ADH7c.666T>C (p.Ile222=)
c.702T>C (p.Ile234=)
c.726T>C (p.Ile242=)
c.495T>C (p.Ile165=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420692A>TCA3020759ADH7c.666T>A (p.Ile222=)
c.702T>A (p.Ile234=)
c.726T>A (p.Ile242=)
c.495T>A (p.Ile165=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420693A>CCA357497685ADH7c.665T>G (p.Ile222Ser)
c.701T>G (p.Ile234Ser)
c.725T>G (p.Ile242Ser)
c.494T>G (p.Ile165Ser)
4g.99420693A>GCA357497687ADH7c.665T>C (p.Ile222Thr)
c.701T>C (p.Ile234Thr)
c.725T>C (p.Ile242Thr)
c.494T>C (p.Ile165Thr)
4g.99420693A>TCA357497686ADH7c.665T>A (p.Ile222Asn)
c.701T>A (p.Ile234Asn)
c.725T>A (p.Ile242Asn)
c.494T>A (p.Ile165Asn)
4g.99420694T>ACA357497688ADH7c.664A>T (p.Ile222Phe)
c.700A>T (p.Ile234Phe)
c.724A>T (p.Ile242Phe)
c.493A>T (p.Ile165Phe)
4g.99420694T>CCA357497689ADH7c.664A>G (p.Ile222Val)
c.700A>G (p.Ile234Val)
c.724A>G (p.Ile242Val)
c.493A>G (p.Ile165Val)
4g.99420694T>GCA357497690ADH7c.664A>C (p.Ile222Leu)
c.700A>C (p.Ile234Leu)
c.724A>C (p.Ile242Leu)
c.493A>C (p.Ile165Leu)
4g.99420695C>ACA440506444ADH7c.663G>T (p.Gly221=)
c.699G>T (p.Gly233=)
c.723G>T (p.Gly241=)
c.492G>T (p.Gly164=)
4g.99420695C=CA1479994322ADH7c.663G= (p.Gly221=)
c.699G= (p.Gly233=)
c.723G= (p.Gly241=)
c.492G= (p.Gly164=)
4g.99420695C>GCA440506445ADH7c.663G>C (p.Gly221=)
c.699G>C (p.Gly233=)
c.723G>C (p.Gly241=)
c.492G>C (p.Gly164=)
4g.99420695C>TCA102646151ADH7c.663G>A (p.Gly221=)
c.699G>A (p.Gly233=)
c.723G>A (p.Gly241=)
c.492G>A (p.Gly164=)
 dbSNP gnomAD v4
4g.99420696C>ACA357497691ADH7c.662G>T (p.Gly221Val)
c.698G>T (p.Gly233Val)
c.722G>T (p.Gly241Val)
c.491G>T (p.Gly164Val)
4g.99420696C=CA1479994331ADH7c.662G= (p.Gly221=)
c.698G= (p.Gly233=)
c.722G= (p.Gly241=)
c.491G= (p.Gly164=)
4g.99420696C>GCA357497693ADH7c.662G>C (p.Gly221Ala)
c.698G>C (p.Gly233Ala)
c.722G>C (p.Gly241Ala)
c.491G>C (p.Gly164Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.99420696C>TCA357497692ADH7c.662G>A (p.Gly221Glu)
c.698G>A (p.Gly233Glu)
c.722G>A (p.Gly241Glu)
c.491G>A (p.Gly164Glu)
4g.99420697C>ACA102646152ADH7c.661G>T (p.Gly221Trp)
c.697G>T (p.Gly233Trp)
c.721G>T (p.Gly241Trp)
c.490G>T (p.Gly164Trp)
 dbSNP
4g.99420697C=CA1479994336ADH7c.661G= (p.Gly221=)
c.697G= (p.Gly233=)
c.721G= (p.Gly241=)
c.490G= (p.Gly164=)
4g.99420697C>GCA357497694ADH7c.661G>C (p.Gly221Arg)
c.697G>C (p.Gly233Arg)
c.721G>C (p.Gly241Arg)
c.490G>C (p.Gly164Arg)
4g.99420697C>TCA357497695ADH7c.661G>A (p.Gly221Arg)
c.697G>A (p.Gly233Arg)
c.721G>A (p.Gly241Arg)
c.490G>A (p.Gly164Arg)
4g.99420698A>CCA357497696ADH7c.660T>G (p.Ile220Met)
c.696T>G (p.Ile232Met)
c.720T>G (p.Ile240Met)
c.489T>G (p.Ile163Met)
4g.99420698A>GCA440506446ADH7c.660T>C (p.Ile220=)
c.696T>C (p.Ile232=)
c.720T>C (p.Ile240=)
c.489T>C (p.Ile163=)
4g.99420698A>TCA440506447ADH7c.660T>A (p.Ile220=)
c.696T>A (p.Ile232=)
c.720T>A (p.Ile240=)
c.489T>A (p.Ile163=)
4g.99420699A=CA1479994339ADH7c.659T= (p.Ile220=)
c.695T= (p.Ile232=)
c.719T= (p.Ile240=)
c.488T= (p.Ile163=)
4g.99420699A>CCA357497697ADH7c.659T>G (p.Ile220Ser)
c.695T>G (p.Ile232Ser)
c.719T>G (p.Ile240Ser)
c.488T>G (p.Ile163Ser)
4g.99420699A>GCA3020760ADH7c.659T>C (p.Ile220Thr)
c.695T>C (p.Ile232Thr)
c.719T>C (p.Ile240Thr)
c.488T>C (p.Ile163Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420699A>TCA357497698ADH7c.659T>A (p.Ile220Asn)
c.695T>A (p.Ile232Asn)
c.719T>A (p.Ile240Asn)
c.488T>A (p.Ile163Asn)
 ClinVar
4g.99420700T>ACA357497699ADH7c.658A>T (p.Ile220Phe)
c.694A>T (p.Ile232Phe)
c.718A>T (p.Ile240Phe)
c.487A>T (p.Ile163Phe)
4g.99420700T>CCA357497700ADH7c.658A>G (p.Ile220Val)
c.694A>G (p.Ile232Val)
c.718A>G (p.Ile240Val)
c.487A>G (p.Ile163Val)
4g.99420700T>GCA357497701ADH7c.658A>C (p.Ile220Leu)
c.694A>C (p.Ile232Leu)
c.718A>C (p.Ile240Leu)
c.487A>C (p.Ile163Leu)
4g.99420701G>ACA440506448ADH7c.657C>T (p.Ile219=)
c.693C>T (p.Ile231=)
c.717C>T (p.Ile239=)
c.486C>T (p.Ile162=)
 COSMIC COSMIC
4g.99420701G>CCA357497702ADH7c.657C>G (p.Ile219Met)
c.693C>G (p.Ile231Met)
c.717C>G (p.Ile239Met)
c.486C>G (p.Ile162Met)
4g.99420701G>TCA440506449ADH7c.657C>A (p.Ile219=)
c.693C>A (p.Ile231=)
c.717C>A (p.Ile239=)
c.486C>A (p.Ile162=)
4g.99420702A=CA1479994344ADH7c.656T= (p.Ile219=)
c.692T= (p.Ile231=)
c.716T= (p.Ile239=)
c.485T= (p.Ile162=)
4g.99420702A>CCA357497703ADH7c.656T>G (p.Ile219Ser)
c.692T>G (p.Ile231Ser)
c.716T>G (p.Ile239Ser)
c.485T>G (p.Ile162Ser)
4g.99420702A>GCA357497704ADH7c.656T>C (p.Ile219Thr)
c.692T>C (p.Ile231Thr)
c.716T>C (p.Ile239Thr)
c.485T>C (p.Ile162Thr)
4g.99420702A>TCA102646165ADH7c.656T>A (p.Ile219Asn)
c.692T>A (p.Ile231Asn)
c.716T>A (p.Ile239Asn)
c.485T>A (p.Ile162Asn)
 dbSNP gnomAD v4
4g.99420703T>ACA357497705ADH7c.655A>T (p.Ile219Phe)
c.691A>T (p.Ile231Phe)
c.715A>T (p.Ile239Phe)
c.484A>T (p.Ile162Phe)
4g.99420703T>CCA357497706ADH7c.655A>G (p.Ile219Val)
c.691A>G (p.Ile231Val)
c.715A>G (p.Ile239Val)
c.484A>G (p.Ile162Val)
 gnomAD v4
4g.99420703T>GCA357497707ADH7c.655A>C (p.Ile219Leu)
c.691A>C (p.Ile231Leu)
c.715A>C (p.Ile239Leu)
c.484A>C (p.Ile162Leu)
4g.99420704C>ACA357497708ADH7c.654G>T (p.Arg218Ser)
c.690G>T (p.Arg230Ser)
c.714G>T (p.Arg238Ser)
c.483G>T (p.Arg161Ser)
4g.99420704C=CA1479994348ADH7c.654G= (p.Arg218=)
c.690G= (p.Arg230=)
c.714G= (p.Arg238=)
c.483G= (p.Arg161=)
4g.99420704C>GCA357497709ADH7c.654G>C (p.Arg218Ser)
c.690G>C (p.Arg230Ser)
c.714G>C (p.Arg238Ser)
c.483G>C (p.Arg161Ser)
 gnomAD v4
4g.99420704C>TCA3020761ADH7c.654G>A (p.Arg218=)
c.690G>A (p.Arg230=)
c.714G>A (p.Arg238=)
c.483G>A (p.Arg161=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420705C>ACA357497710ADH7c.653G>T (p.Arg218Met)
c.689G>T (p.Arg230Met)
c.713G>T (p.Arg238Met)
c.482G>T (p.Arg161Met)
4g.99420705C=CA1479994352ADH7c.653G= (p.Arg218=)
c.689G= (p.Arg230=)
c.713G= (p.Arg238=)
c.482G= (p.Arg161=)
4g.99420705C>GCA357497711ADH7c.653G>C (p.Arg218Thr)
c.689G>C (p.Arg230Thr)
c.713G>C (p.Arg238Thr)
c.482G>C (p.Arg161Thr)
4g.99420705C>TCA357497712ADH7c.653G>A (p.Arg218Lys)
c.689G>A (p.Arg230Lys)
c.713G>A (p.Arg238Lys)
c.482G>A (p.Arg161Lys)
 dbSNP gnomAD v4
4g.99420706T>ACA357497713ADH7c.652A>T (p.Arg218Trp)
c.688A>T (p.Arg230Trp)
c.712A>T (p.Arg238Trp)
c.481A>T (p.Arg161Trp)
4g.99420706T>CCA357497714ADH7c.652A>G (p.Arg218Gly)
c.688A>G (p.Arg230Gly)
c.712A>G (p.Arg238Gly)
c.481A>G (p.Arg161Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.99420706T>GCA440506450ADH7c.652A>C (p.Arg218=)
c.688A>C (p.Arg230=)
c.712A>C (p.Arg238=)
c.481A>C (p.Arg161=)
4g.99420706T=CA1479994355ADH7c.652A= (p.Arg218=)
c.688A= (p.Arg230=)
c.712A= (p.Arg238=)
c.481A= (p.Arg161=)
4g.99420707A=CA1479994357ADH7c.651T= (p.Ser217=)
c.687T= (p.Ser229=)
c.711T= (p.Ser237=)
c.480T= (p.Ser160=)
4g.99420707A>CCA440506451ADH7c.651T>G (p.Ser217=)
c.687T>G (p.Ser229=)
c.711T>G (p.Ser237=)
c.480T>G (p.Ser160=)
4g.99420707A>GCA440506452ADH7c.651T>C (p.Ser217=)
c.687T>C (p.Ser229=)
c.711T>C (p.Ser237=)
c.480T>C (p.Ser160=)
 dbSNP
4g.99420707A>TCA440506453ADH7c.651T>A (p.Ser217=)
c.687T>A (p.Ser229=)
c.711T>A (p.Ser237=)
c.480T>A (p.Ser160=)
 dbSNP
4g.99420708G>ACA357497717ADH7c.650C>T (p.Ser217Phe)
c.686C>T (p.Ser229Phe)
c.710C>T (p.Ser237Phe)
c.479C>T (p.Ser160Phe)
4g.99420708G>CCA357497716ADH7c.650C>G (p.Ser217Cys)
c.686C>G (p.Ser229Cys)
c.710C>G (p.Ser237Cys)
c.479C>G (p.Ser160Cys)
 gnomAD v4
4g.99420708G>TCA357497715ADH7c.650C>A (p.Ser217Tyr)
c.686C>A (p.Ser229Tyr)
c.710C>A (p.Ser237Tyr)
c.479C>A (p.Ser160Tyr)
4g.99420709A=CA1479994360ADH7c.649T= (p.Ser217=)
c.685T= (p.Ser229=)
c.709T= (p.Ser237=)
c.478T= (p.Ser160=)
4g.99420709A>CCA357497718ADH7c.649T>G (p.Ser217Ala)
c.685T>G (p.Ser229Ala)
c.709T>G (p.Ser237Ala)
c.478T>G (p.Ser160Ala)
4g.99420709A>GCA357497719ADH7c.649T>C (p.Ser217Pro)
c.685T>C (p.Ser229Pro)
c.709T>C (p.Ser237Pro)
c.478T>C (p.Ser160Pro)
4g.99420709A>TCA357497720ADH7c.649T>A (p.Ser217Thr)
c.685T>A (p.Ser229Thr)
c.709T>A (p.Ser237Thr)
c.478T>A (p.Ser160Thr)
 dbSNP
4g.99420710T>ACA440506454ADH7c.648A>T (p.Ala216=)
c.684A>T (p.Ala228=)
c.708A>T (p.Ala236=)
c.477A>T (p.Ala159=)
4g.99420710T>CCA440506456ADH7c.648A>G (p.Ala216=)
c.684A>G (p.Ala228=)
c.708A>G (p.Ala236=)
c.477A>G (p.Ala159=)
 gnomAD v4
4g.99420710T>GCA440506455ADH7c.648A>C (p.Ala216=)
c.684A>C (p.Ala228=)
c.708A>C (p.Ala236=)
c.477A>C (p.Ala159=)
4g.99420711G>ACA357497721ADH7c.647C>T (p.Ala216Val)
c.683C>T (p.Ala228Val)
c.707C>T (p.Ala236Val)
c.476C>T (p.Ala159Val)
4g.99420711G>CCA357497722ADH7c.647C>G (p.Ala216Gly)
c.683C>G (p.Ala228Gly)
c.707C>G (p.Ala236Gly)
c.476C>G (p.Ala159Gly)
4g.99420711G>TCA357497723ADH7c.647C>A (p.Ala216Glu)
c.683C>A (p.Ala228Glu)
c.707C>A (p.Ala236Glu)
c.476C>A (p.Ala159Glu)
 gnomAD v4
4g.99420712C>ACA357497724ADH7c.646G>T (p.Ala216Ser)
c.682G>T (p.Ala228Ser)
c.706G>T (p.Ala236Ser)
c.475G>T (p.Ala159Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.99420712C=CA1479994363ADH7c.646G= (p.Ala216=)
c.682G= (p.Ala228=)
c.706G= (p.Ala236=)
c.475G= (p.Ala159=)
4g.99420712C>GCA357497725ADH7c.646G>C (p.Ala216Pro)
c.682G>C (p.Ala228Pro)
c.706G>C (p.Ala236Pro)
c.475G>C (p.Ala159Pro)
4g.99420712C>TCA3020762ADH7c.646G>A (p.Ala216Thr)
c.682G>A (p.Ala228Thr)
c.706G>A (p.Ala236Thr)
c.475G>A (p.Ala159Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420713A>CCA440506457ADH7c.645T>G (p.Gly215=)
c.681T>G (p.Gly227=)
c.705T>G (p.Gly235=)
c.474T>G (p.Gly158=)
4g.99420713A>GCA440506458ADH7c.645T>C (p.Gly215=)
c.681T>C (p.Gly227=)
c.705T>C (p.Gly235=)
c.474T>C (p.Gly158=)
4g.99420713A>TCA440506459ADH7c.645T>A (p.Gly215=)
c.681T>A (p.Gly227=)
c.705T>A (p.Gly235=)
c.474T>A (p.Gly158=)
4g.99420714C>ACA357497726ADH7c.644G>T (p.Gly215Val)
c.680G>T (p.Gly227Val)
c.704G>T (p.Gly235Val)
c.473G>T (p.Gly158Val)
4g.99420714C>GCA357497727ADH7c.644G>C (p.Gly215Ala)
c.680G>C (p.Gly227Ala)
c.704G>C (p.Gly235Ala)
c.473G>C (p.Gly158Ala)
 gnomAD v4
4g.99420714C>TCA357497728ADH7c.644G>A (p.Gly215Asp)
c.680G>A (p.Gly227Asp)
c.704G>A (p.Gly235Asp)
c.473G>A (p.Gly158Asp)
4g.99420715C>ACA357497731ADH7c.643G>T (p.Gly215Cys)
c.679G>T (p.Gly227Cys)
c.703G>T (p.Gly235Cys)
c.472G>T (p.Gly158Cys)
4g.99420715C=CA1479994367ADH7c.643G= (p.Gly215=)
c.679G= (p.Gly227=)
c.703G= (p.Gly235=)
c.472G= (p.Gly158=)
4g.99420715C>GCA357497730ADH7c.643G>C (p.Gly215Arg)
c.679G>C (p.Gly227Arg)
c.703G>C (p.Gly235Arg)
c.472G>C (p.Gly158Arg)
4g.99420715C>TCA357497729ADH7c.643G>A (p.Gly215Ser)
c.679G>A (p.Gly227Ser)
c.703G>A (p.Gly235Ser)
c.472G>A (p.Gly158Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.99420716A>CCA440506460ADH7c.642T>G (p.Ala214=)
c.678T>G (p.Ala226=)
c.702T>G (p.Ala234=)
c.471T>G (p.Ala157=)
4g.99420716A>GCA440506461ADH7c.642T>C (p.Ala214=)
c.678T>C (p.Ala226=)
c.702T>C (p.Ala234=)
c.471T>C (p.Ala157=)
 gnomAD v4
4g.99420716A>TCA440506462ADH7c.642T>A (p.Ala214=)
c.678T>A (p.Ala226=)
c.702T>A (p.Ala234=)
c.471T>A (p.Ala157=)
4g.99420717G>ACA357497732ADH7c.641C>T (p.Ala214Val)
c.677C>T (p.Ala226Val)
c.701C>T (p.Ala234Val)
c.470C>T (p.Ala157Val)
4g.99420717G>CCA357497734ADH7c.641C>G (p.Ala214Gly)
c.677C>G (p.Ala226Gly)
c.701C>G (p.Ala234Gly)
c.470C>G (p.Ala157Gly)
4g.99420717G>TCA357497733ADH7c.641C>A (p.Ala214Asp)
c.677C>A (p.Ala226Asp)
c.701C>A (p.Ala234Asp)
c.470C>A (p.Ala157Asp)
 gnomAD v4
4g.99420718C>ACA357497735ADH7c.640G>T (p.Ala214Ser)
c.676G>T (p.Ala226Ser)
c.700G>T (p.Ala234Ser)
c.469G>T (p.Ala157Ser)
4g.99420718C>GCA357497736ADH7c.640G>C (p.Ala214Pro)
c.676G>C (p.Ala226Pro)
c.700G>C (p.Ala234Pro)
c.469G>C (p.Ala157Pro)
4g.99420718C>TCA357497737ADH7c.640G>A (p.Ala214Thr)
c.676G>A (p.Ala226Thr)
c.700G>A (p.Ala234Thr)
c.469G>A (p.Ala157Thr)
4g.99420719T>ACA440506463ADH7c.639A>T (p.Ser213=)
c.675A>T (p.Ser225=)
c.699A>T (p.Ser233=)
c.468A>T (p.Ser156=)
4g.99420719T>CCA440506464ADH7c.639A>G (p.Ser213=)
c.675A>G (p.Ser225=)
c.699A>G (p.Ser233=)
c.468A>G (p.Ser156=)
4g.99420719T>GCA440506465ADH7c.639A>C (p.Ser213=)
c.675A>C (p.Ser225=)
c.699A>C (p.Ser233=)
c.468A>C (p.Ser156=)
4g.99420724_99420740delCA2578151626ADH7c.623_639del (p.Ile208SerfsTer5)
c.659_675del (p.Ile220SerfsTer5)
c.683_699del (p.Ile228SerfsTer5)
c.452_468del (p.Ile151SerfsTer5)
4g.99420720G>ACA357497738ADH7c.638C>T (p.Ser213Leu)
c.674C>T (p.Ser225Leu)
c.698C>T (p.Ser233Leu)
c.467C>T (p.Ser156Leu)
 COSMIC COSMIC
4g.99420720G>CCA357497739ADH7c.638C>G (p.Ser213Ter)
c.674C>G (p.Ser225Ter)
c.698C>G (p.Ser233Ter)
c.467C>G (p.Ser156Ter)
4g.99420720G>TCA357497740ADH7c.638C>A (p.Ser213Ter)
c.674C>A (p.Ser225Ter)
c.698C>A (p.Ser233Ter)
c.467C>A (p.Ser156Ter)
4g.99420721A>CCA357497741ADH7c.637T>G (p.Ser213Ala)
c.673T>G (p.Ser225Ala)
c.697T>G (p.Ser233Ala)
c.466T>G (p.Ser156Ala)
4g.99420721A>GCA357497742ADH7c.637T>C (p.Ser213Pro)
c.673T>C (p.Ser225Pro)
c.697T>C (p.Ser233Pro)
c.466T>C (p.Ser156Pro)
4g.99420721A>TCA357497743ADH7c.637T>A (p.Ser213Thr)
c.673T>A (p.Ser225Thr)
c.697T>A (p.Ser233Thr)
c.466T>A (p.Ser156Thr)
4g.99420722C>ACA357497744ADH7c.636G>T (p.Lys212Asn)
c.672G>T (p.Lys224Asn)
c.696G>T (p.Lys232Asn)
c.465G>T (p.Lys155Asn)
4g.99420722C=CA1479994370ADH7c.636G= (p.Lys212=)
c.672G= (p.Lys224=)
c.696G= (p.Lys232=)
c.465G= (p.Lys155=)
4g.99420722C>GCA357497745ADH7c.636G>C (p.Lys212Asn)
c.672G>C (p.Lys224Asn)
c.696G>C (p.Lys232Asn)
c.465G>C (p.Lys155Asn)
4g.99420722C>TCA440506466ADH7c.636G>A (p.Lys212=)
c.672G>A (p.Lys224=)
c.696G>A (p.Lys232=)
c.465G>A (p.Lys155=)
4g.99420723T>ACA357497748ADH7c.635A>T (p.Lys212Met)
c.671A>T (p.Lys224Met)
c.695A>T (p.Lys232Met)
c.464A>T (p.Lys155Met)
4g.99420723T>CCA357497746ADH7c.635A>G (p.Lys212Arg)
c.671A>G (p.Lys224Arg)
c.695A>G (p.Lys232Arg)
c.464A>G (p.Lys155Arg)
4g.99420723T>GCA357497747ADH7c.635A>C (p.Lys212Thr)
c.671A>C (p.Lys224Thr)
c.695A>C (p.Lys232Thr)
c.464A>C (p.Lys155Thr)
4g.99420724dupCA3020763ADH7c.635dup (p.Ser213ValfsTer6)
c.671dup (p.Ser225ValfsTer6)
c.695dup (p.Ser233ValfsTer6)
c.464dup (p.Ser156ValfsTer6)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420724T>ACA357497749ADH7c.634A>T (p.Lys212Ter)
c.670A>T (p.Lys224Ter)
c.694A>T (p.Lys232Ter)
c.463A>T (p.Lys155Ter)
4g.99420724T>CCA357497750ADH7c.634A>G (p.Lys212Glu)
c.670A>G (p.Lys224Glu)
c.694A>G (p.Lys232Glu)
c.463A>G (p.Lys155Glu)
4g.99420724T>GCA357497751ADH7c.634A>C (p.Lys212Gln)
c.670A>C (p.Lys224Gln)
c.694A>C (p.Lys232Gln)
c.463A>C (p.Lys155Gln)
 dbSNP gnomAD v2
4g.99420724T=CA1479994377ADH7c.634A= (p.Lys212=)
c.670A= (p.Lys224=)
c.694A= (p.Lys232=)
c.463A= (p.Lys155=)
4g.99420725A>CCA357497752ADH7c.633T>G (p.Cys211Trp)
c.669T>G (p.Cys223Trp)
c.693T>G (p.Cys231Trp)
c.462T>G (p.Cys154Trp)
4g.99420725A>GCA440506468ADH7c.633T>C (p.Cys211=)
c.669T>C (p.Cys223=)
c.693T>C (p.Cys231=)
c.462T>C (p.Cys154=)
4g.99420725A>TCA357497753ADH7c.633T>A (p.Cys211Ter)
c.669T>A (p.Cys223Ter)
c.693T>A (p.Cys231Ter)
c.462T>A (p.Cys154Ter)
4g.99420725_99420728delinsACAGCA1479994378ADH7c.630_633delinsCTGT (p.Gly210=)
c.666_669delinsCTGT (p.Gly222=)
c.690_693delinsCTGT (p.Gly230=)
c.459_462delinsCTGT (p.Gly153=)
4g.99420726C>ACA357497754ADH7c.632G>T (p.Cys211Phe)
c.668G>T (p.Cys223Phe)
c.692G>T (p.Cys231Phe)
c.461G>T (p.Cys154Phe)
 dbSNP gnomAD v2
4g.99420726C=CA1479994381ADH7c.632G= (p.Cys211=)
c.668G= (p.Cys223=)
c.692G= (p.Cys231=)
c.461G= (p.Cys154=)
4g.99420726C>GCA357497755ADH7c.632G>C (p.Cys211Ser)
c.668G>C (p.Cys223Ser)
c.692G>C (p.Cys231Ser)
c.461G>C (p.Cys154Ser)
 gnomAD v4
4g.99420726C>TCA357497756ADH7c.632G>A (p.Cys211Tyr)
c.668G>A (p.Cys223Tyr)
c.692G>A (p.Cys231Tyr)
c.461G>A (p.Cys154Tyr)
4g.99420727_99420729delCA553568165ADH7c.630_632del (p.Cys211del)
c.666_668del (p.Cys223del)
c.690_692del (p.Cys231del)
c.459_461del (p.Cys154del)
 dbSNP gnomAD v2
4g.99420727A>CCA357497757ADH7c.631T>G (p.Cys211Gly)
c.667T>G (p.Cys223Gly)
c.691T>G (p.Cys231Gly)
c.460T>G (p.Cys154Gly)
4g.99420727A>GCA357497758ADH7c.631T>C (p.Cys211Arg)
c.667T>C (p.Cys223Arg)
c.691T>C (p.Cys231Arg)
c.460T>C (p.Cys154Arg)
4g.99420727A>TCA357497759ADH7c.631T>A (p.Cys211Ser)
c.667T>A (p.Cys223Ser)
c.691T>A (p.Cys231Ser)
c.460T>A (p.Cys154Ser)
 dbSNP
4g.99420728G>ACA440506469ADH7c.630C>T (p.Gly210=)
c.666C>T (p.Gly222=)
c.690C>T (p.Gly230=)
c.459C>T (p.Gly153=)
4g.99420728G>CCA440506470ADH7c.630C>G (p.Gly210=)
c.666C>G (p.Gly222=)
c.690C>G (p.Gly230=)
c.459C>G (p.Gly153=)
4g.99420728G>TCA440506471ADH7c.630C>A (p.Gly210=)
c.666C>A (p.Gly222=)
c.690C>A (p.Gly230=)
c.459C>A (p.Gly153=)
4g.99420729C>ACA3020764ADH7c.629G>T (p.Gly210Val)
c.665G>T (p.Gly222Val)
c.689G>T (p.Gly230Val)
c.458G>T (p.Gly153Val)
 dbSNP ExAC gnomAD v2
4g.99420729C=CA1479994385ADH7c.629G= (p.Gly210=)
c.665G= (p.Gly222=)
c.689G= (p.Gly230=)
c.458G= (p.Gly153=)
4g.99420729C>GCA357497761ADH7c.629G>C (p.Gly210Ala)
c.665G>C (p.Gly222Ala)
c.689G>C (p.Gly230Ala)
c.458G>C (p.Gly153Ala)
4g.99420729C>TCA357497760ADH7c.629G>A (p.Gly210Asp)
c.665G>A (p.Gly222Asp)
c.689G>A (p.Gly230Asp)
c.458G>A (p.Gly153Asp)
4g.99420730C>ACA357497762ADH7c.628G>T (p.Gly210Cys)
c.664G>T (p.Gly222Cys)
c.688G>T (p.Gly230Cys)
c.457G>T (p.Gly153Cys)
4g.99420730C>GCA357497763ADH7c.628G>C (p.Gly210Arg)
c.664G>C (p.Gly222Arg)
c.688G>C (p.Gly230Arg)
c.457G>C (p.Gly153Arg)
4g.99420730C>TCA357497764ADH7c.628G>A (p.Gly210Ser)
c.664G>A (p.Gly222Ser)
c.688G>A (p.Gly230Ser)
c.457G>A (p.Gly153Ser)
4g.99420731C>ACA357497765ADH7c.627G>T (p.Met209Ile)
c.663G>T (p.Met221Ile)
c.687G>T (p.Met229Ile)
c.456G>T (p.Met152Ile)
4g.99420731C=CA1479994387ADH7c.627G= (p.Met209=)
c.663G= (p.Met221=)
c.687G= (p.Met229=)
c.456G= (p.Met152=)
4g.99420731C>GCA357497766ADH7c.627G>C (p.Met209Ile)
c.663G>C (p.Met221Ile)
c.687G>C (p.Met229Ile)
c.456G>C (p.Met152Ile)
4g.99420731C>TCA357497767ADH7c.627G>A (p.Met209Ile)
c.663G>A (p.Met221Ile)
c.687G>A (p.Met229Ile)
c.456G>A (p.Met152Ile)
 dbSNP
4g.99420731_99420732delinsACCA645535904ADH7c.626_627delinsGT (p.Met209Ser)
c.662_663delinsGT (p.Met221Ser)
c.686_687delinsGT (p.Met229Ser)
c.455_456delinsGT (p.Met152Ser)
 COSMIC
4g.99420732A=CA1479994389ADH7c.626T= (p.Met209=)
c.662T= (p.Met221=)
c.686T= (p.Met229=)
c.455T= (p.Met152=)
4g.99420732A>CCA357497768ADH7c.626T>G (p.Met209Arg)
c.662T>G (p.Met221Arg)
c.686T>G (p.Met229Arg)
c.455T>G (p.Met152Arg)
4g.99420732A>GCA357497769ADH7c.626T>C (p.Met209Thr)
c.662T>C (p.Met221Thr)
c.686T>C (p.Met229Thr)
c.455T>C (p.Met152Thr)
 dbSNP gnomAD v4
4g.99420732A>TCA357497770ADH7c.626T>A (p.Met209Lys)
c.662T>A (p.Met221Lys)
c.686T>A (p.Met229Lys)
c.455T>A (p.Met152Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.99420733T>ACA357497771ADH7c.625A>T (p.Met209Leu)
c.661A>T (p.Met221Leu)
c.685A>T (p.Met229Leu)
c.454A>T (p.Met152Leu)
4g.99420733T>CCA357497772ADH7c.625A>G (p.Met209Val)
c.661A>G (p.Met221Val)
c.685A>G (p.Met229Val)
c.454A>G (p.Met152Val)
 gnomAD v4
4g.99420733T>GCA357497773ADH7c.625A>C (p.Met209Leu)
c.661A>C (p.Met221Leu)
c.685A>C (p.Met229Leu)
c.454A>C (p.Met152Leu)
4g.99420734G>ACA440506473ADH7c.624C>T (p.Ile208=)
c.660C>T (p.Ile220=)
c.684C>T (p.Ile228=)
c.453C>T (p.Ile151=)
4g.99420734G>CCA357497774ADH7c.624C>G (p.Ile208Met)
c.660C>G (p.Ile220Met)
c.684C>G (p.Ile228Met)
c.453C>G (p.Ile151Met)
4g.99420734G>TCA440506474ADH7c.624C>A (p.Ile208=)
c.660C>A (p.Ile220=)
c.684C>A (p.Ile228=)
c.453C>A (p.Ile151=)
4g.99420735A>CCA357497777ADH7c.623T>G (p.Ile208Ser)
c.659T>G (p.Ile220Ser)
c.683T>G (p.Ile228Ser)
c.452T>G (p.Ile151Ser)
4g.99420735A>GCA357497775ADH7c.623T>C (p.Ile208Thr)
c.659T>C (p.Ile220Thr)
c.683T>C (p.Ile228Thr)
c.452T>C (p.Ile151Thr)
 gnomAD v4
4g.99420735A>TCA357497776ADH7c.623T>A (p.Ile208Asn)
c.659T>A (p.Ile220Asn)
c.683T>A (p.Ile228Asn)
c.452T>A (p.Ile151Asn)
4g.99420736T>ACA357497778ADH7c.622A>T (p.Ile208Phe)
c.658A>T (p.Ile220Phe)
c.682A>T (p.Ile228Phe)
c.451A>T (p.Ile151Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.99420736T>CCA3020765ADH7c.622A>G (p.Ile208Val)
c.658A>G (p.Ile220Val)
c.682A>G (p.Ile228Val)
c.451A>G (p.Ile151Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420736T>GCA102646189ADH7c.622A>C (p.Ile208Leu)
c.658A>C (p.Ile220Leu)
c.682A>C (p.Ile228Leu)
c.451A>C (p.Ile151Leu)
 dbSNP
4g.99420736T=CA1479994393ADH7c.622A= (p.Ile208=)
c.658A= (p.Ile220=)
c.682A= (p.Ile228=)
c.451A= (p.Ile151=)
4g.99420737G>ACA440506475ADH7c.621C>T (p.Val207=)
c.657C>T (p.Val219=)
c.681C>T (p.Val227=)
c.450C>T (p.Val150=)
4g.99420737G>CCA440506476ADH7c.621C>G (p.Val207=)
c.657C>G (p.Val219=)
c.681C>G (p.Val227=)
c.450C>G (p.Val150=)
4g.99420737G>TCA440506477ADH7c.621C>A (p.Val207=)
c.657C>A (p.Val219=)
c.681C>A (p.Val227=)
c.450C>A (p.Val150=)
 gnomAD v4
4g.99420738A>CCA357497779ADH7c.620T>G (p.Val207Gly)
c.656T>G (p.Val219Gly)
c.680T>G (p.Val227Gly)
c.449T>G (p.Val150Gly)
4g.99420738A>GCA357497780ADH7c.620T>C (p.Val207Ala)
c.656T>C (p.Val219Ala)
c.680T>C (p.Val227Ala)
c.449T>C (p.Val150Ala)
4g.99420738A>TCA357497781ADH7c.620T>A (p.Val207Asp)
c.656T>A (p.Val219Asp)
c.680T>A (p.Val227Asp)
c.449T>A (p.Val150Asp)
4g.99420739C>ACA357497782ADH7c.619G>T (p.Val207Phe)
c.655G>T (p.Val219Phe)
c.679G>T (p.Val227Phe)
c.448G>T (p.Val150Phe)
4g.99420739C>GCA357497783ADH7c.619G>C (p.Val207Leu)
c.655G>C (p.Val219Leu)
c.679G>C (p.Val227Leu)
c.448G>C (p.Val150Leu)
4g.99420739C>TCA357497784ADH7c.619G>A (p.Val207Ile)
c.655G>A (p.Val219Ile)
c.679G>A (p.Val227Ile)
c.448G>A (p.Val150Ile)
4g.99420740T>ACA440506478ADH7c.618A>T (p.Ser206=)
c.654A>T (p.Ser218=)
c.678A>T (p.Ser226=)
c.447A>T (p.Ser149=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420740T>CCA440506479ADH7c.618A>G (p.Ser206=)
c.654A>G (p.Ser218=)
c.678A>G (p.Ser226=)
c.447A>G (p.Ser149=)
4g.99420740T>GCA440506480ADH7c.618A>C (p.Ser206=)
c.654A>C (p.Ser218=)
c.678A>C (p.Ser226=)
c.447A>C (p.Ser149=)
4g.99420740T=CA1479994397ADH7c.618A= (p.Ser206=)
c.654A= (p.Ser218=)
c.678A= (p.Ser226=)
c.447A= (p.Ser149=)
4g.99420741G>ACA357497785ADH7c.617C>T (p.Ser206Leu)
c.653C>T (p.Ser218Leu)
c.677C>T (p.Ser226Leu)
c.446C>T (p.Ser149Leu)
4g.99420741G>CCA357497786ADH7c.617C>G (p.Ser206Ter)
c.653C>G (p.Ser218Ter)
c.677C>G (p.Ser226Ter)
c.446C>G (p.Ser149Ter)
4g.99420741G>TCA357497787ADH7c.617C>A (p.Ser206Ter)
c.653C>A (p.Ser218Ter)
c.677C>A (p.Ser226Ter)
c.446C>A (p.Ser149Ter)
4g.99420742A>CCA357497789ADH7c.616T>G (p.Ser206Ala)
c.652T>G (p.Ser218Ala)
c.676T>G (p.Ser226Ala)
c.445T>G (p.Ser149Ala)
4g.99420742A>GCA357497790ADH7c.616T>C (p.Ser206Pro)
c.652T>C (p.Ser218Pro)
c.676T>C (p.Ser226Pro)
c.445T>C (p.Ser149Pro)
4g.99420742A>TCA357497788ADH7c.616T>A (p.Ser206Thr)
c.652T>A (p.Ser218Thr)
c.676T>A (p.Ser226Thr)
c.445T>A (p.Ser149Thr)
4g.99420743C>ACA440506481ADH7c.615G>T (p.Leu205=)
c.651G>T (p.Leu217=)
c.675G>T (p.Leu225=)
c.444G>T (p.Leu148=)
 gnomAD v4
4g.99420743C>GCA440506482ADH7c.615G>C (p.Leu205=)
c.651G>C (p.Leu217=)
c.675G>C (p.Leu225=)
c.444G>C (p.Leu148=)
4g.99420743C>TCA440506483ADH7c.615G>A (p.Leu205=)
c.651G>A (p.Leu217=)
c.675G>A (p.Leu225=)
c.444G>A (p.Leu148=)
4g.99420744A>CCA357497792ADH7c.614T>G (p.Leu205Arg)
c.650T>G (p.Leu217Arg)
c.674T>G (p.Leu225Arg)
c.443T>G (p.Leu148Arg)
4g.99420744A>GCA357497791ADH7c.614T>C (p.Leu205Pro)
c.650T>C (p.Leu217Pro)
c.674T>C (p.Leu225Pro)
c.443T>C (p.Leu148Pro)
4g.99420744A>TCA357497793ADH7c.614T>A (p.Leu205Gln)
c.650T>A (p.Leu217Gln)
c.674T>A (p.Leu225Gln)
c.443T>A (p.Leu148Gln)
4g.99420745G>ACA440506484ADH7c.613C>T (p.Leu205=)
c.649C>T (p.Leu217=)
c.673C>T (p.Leu225=)
c.442C>T (p.Leu148=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420745G>CCA357497794ADH7c.613C>G (p.Leu205Val)
c.649C>G (p.Leu217Val)
c.673C>G (p.Leu225Val)
c.442C>G (p.Leu148Val)
4g.99420745G=CA1479994399ADH7c.613C= (p.Leu205=)
c.649C= (p.Leu217=)
c.673C= (p.Leu225=)
c.442C= (p.Leu148=)
4g.99420745G>TCA357497795ADH7c.613C>A (p.Leu205Met)
c.649C>A (p.Leu217Met)
c.673C>A (p.Leu225Met)
c.442C>A (p.Leu148Met)
4g.99420746G>ACA440506485ADH7c.612C>T (p.Gly204=)
c.648C>T (p.Gly216=)
c.672C>T (p.Gly224=)
c.441C>T (p.Gly147=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420746G>CCA440506486ADH7c.612C>G (p.Gly204=)
c.648C>G (p.Gly216=)
c.672C>G (p.Gly224=)
c.441C>G (p.Gly147=)
4g.99420746G=CA1479994404ADH7c.612C= (p.Gly204=)
c.648C= (p.Gly216=)
c.672C= (p.Gly224=)
c.441C= (p.Gly147=)
4g.99420746G>TCA440506487ADH7c.612C>A (p.Gly204=)
c.648C>A (p.Gly216=)
c.672C>A (p.Gly224=)
c.441C>A (p.Gly147=)
4g.99420747C>ACA3020767ADH7c.611G>T (p.Gly204Val)
c.647G>T (p.Gly216Val)
c.671G>T (p.Gly224Val)
c.440G>T (p.Gly147Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420747C=CA1479994407ADH7c.611G= (p.Gly204=)
c.647G= (p.Gly216=)
c.671G= (p.Gly224=)
c.440G= (p.Gly147=)
4g.99420747C>GCA357497796ADH7c.611G>C (p.Gly204Ala)
c.647G>C (p.Gly216Ala)
c.671G>C (p.Gly224Ala)
c.440G>C (p.Gly147Ala)
4g.99420747C>TCA3020766ADH7c.611G>A (p.Gly204Asp)
c.647G>A (p.Gly216Asp)
c.671G>A (p.Gly224Asp)
c.440G>A (p.Gly147Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420748C>ACA357497797ADH7c.610G>T (p.Gly204Cys)
c.646G>T (p.Gly216Cys)
c.670G>T (p.Gly224Cys)
c.439G>T (p.Gly147Cys)
4g.99420748C>GCA357497798ADH7c.610G>C (p.Gly204Arg)
c.646G>C (p.Gly216Arg)
c.670G>C (p.Gly224Arg)
c.439G>C (p.Gly147Arg)
4g.99420748C>TCA357497799ADH7c.610G>A (p.Gly204Ser)
c.646G>A (p.Gly216Ser)
c.670G>A (p.Gly224Ser)
c.439G>A (p.Gly147Ser)
 gnomAD v4
4g.99420749A=CA1479994412ADH7c.609T= (p.Val203=)
c.645T= (p.Val215=)
c.669T= (p.Val223=)
c.438T= (p.Val146=)
4g.99420749A>CCA440506489ADH7c.609T>G (p.Val203=)
c.645T>G (p.Val215=)
c.669T>G (p.Val223=)
c.438T>G (p.Val146=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420749A>GCA440506490ADH7c.609T>C (p.Val203=)
c.645T>C (p.Val215=)
c.669T>C (p.Val223=)
c.438T>C (p.Val146=)
4g.99420749A>TCA440506491ADH7c.609T>A (p.Val203=)
c.645T>A (p.Val215=)
c.669T>A (p.Val223=)
c.438T>A (p.Val146=)
4g.99420750A>CCA357497800ADH7c.608T>G (p.Val203Gly)
c.644T>G (p.Val215Gly)
c.668T>G (p.Val223Gly)
c.437T>G (p.Val146Gly)
4g.99420750A>GCA357497801ADH7c.608T>C (p.Val203Ala)
c.644T>C (p.Val215Ala)
c.668T>C (p.Val223Ala)
c.437T>C (p.Val146Ala)
4g.99420750A>TCA357497802ADH7c.608T>A (p.Val203Asp)
c.644T>A (p.Val215Asp)
c.668T>A (p.Val223Asp)
c.437T>A (p.Val146Asp)
4g.99420751C>ACA3020768ADH7c.607G>T (p.Val203Phe)
c.643G>T (p.Val215Phe)
c.667G>T (p.Val223Phe)
c.436G>T (p.Val146Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420751C=CA1479994415ADH7c.607G= (p.Val203=)
c.643G= (p.Val215=)
c.667G= (p.Val223=)
c.436G= (p.Val146=)
4g.99420751C>GCA357497803ADH7c.607G>C (p.Val203Leu)
c.643G>C (p.Val215Leu)
c.667G>C (p.Val223Leu)
c.436G>C (p.Val146Leu)
4g.99420751C>TCA102646227ADH7c.607G>A (p.Val203Ile)
c.643G>A (p.Val215Ile)
c.667G>A (p.Val223Ile)
c.436G>A (p.Val146Ile)
 dbSNP
4g.99420752T>ACA440506494ADH7c.606A>T (p.Gly202=)
c.642A>T (p.Gly214=)
c.666A>T (p.Gly222=)
c.435A>T (p.Gly145=)
4g.99420752T>CCA440506493ADH7c.606A>G (p.Gly202=)
c.642A>G (p.Gly214=)
c.666A>G (p.Gly222=)
c.435A>G (p.Gly145=)
4g.99420752T>GCA440506492ADH7c.606A>C (p.Gly202=)
c.642A>C (p.Gly214=)
c.666A>C (p.Gly222=)
c.435A>C (p.Gly145=)
4g.99420753C>ACA357497804ADH7c.605G>T (p.Gly202Val)
c.641G>T (p.Gly214Val)
c.665G>T (p.Gly222Val)
c.434G>T (p.Gly145Val)
4g.99420753C>GCA357497805ADH7c.605G>C (p.Gly202Ala)
c.641G>C (p.Gly214Ala)
c.665G>C (p.Gly222Ala)
c.434G>C (p.Gly145Ala)
4g.99420753C>TCA357497806ADH7c.605G>A (p.Gly202Glu)
c.641G>A (p.Gly214Glu)
c.665G>A (p.Gly222Glu)
c.434G>A (p.Gly145Glu)
 COSMIC COSMIC
4g.99420754C>ACA357497807ADH7c.604G>T (p.Gly202Ter)
c.640G>T (p.Gly214Ter)
c.664G>T (p.Gly222Ter)
c.433G>T (p.Gly145Ter)
4g.99420754C=CA1479994417ADH7c.604G= (p.Gly202=)
c.640G= (p.Gly214=)
c.664G= (p.Gly222=)
c.433G= (p.Gly145=)
4g.99420754C>GCA357497808ADH7c.604G>C (p.Gly202Arg)
c.640G>C (p.Gly214Arg)
c.664G>C (p.Gly222Arg)
c.433G>C (p.Gly145Arg)
4g.99420754C>TCA102646237ADH7c.604G>A (p.Gly202Arg)
c.640G>A (p.Gly214Arg)
c.664G>A (p.Gly222Arg)
c.433G>A (p.Gly145Arg)
 dbSNP
4g.99420755T>ACA440506497ADH7c.603A>T (p.Gly201=)
c.639A>T (p.Gly213=)
c.663A>T (p.Gly221=)
c.432A>T (p.Gly144=)
4g.99420755T>CCA440506496ADH7c.603A>G (p.Gly201=)
c.639A>G (p.Gly213=)
c.663A>G (p.Gly221=)
c.432A>G (p.Gly144=)
4g.99420755T>GCA440506495ADH7c.603A>C (p.Gly201=)
c.639A>C (p.Gly213=)
c.663A>C (p.Gly221=)
c.432A>C (p.Gly144=)
4g.99420756C>ACA357497809ADH7c.602G>T (p.Gly201Val)
c.638G>T (p.Gly213Val)
c.662G>T (p.Gly221Val)
c.431G>T (p.Gly144Val)
4g.99420756C=CA1479994421ADH7c.602G= (p.Gly201=)
c.638G= (p.Gly213=)
c.662G= (p.Gly221=)
c.431G= (p.Gly144=)
4g.99420756C>GCA357497811ADH7c.602G>C (p.Gly201Ala)
c.638G>C (p.Gly213Ala)
c.662G>C (p.Gly221Ala)
c.431G>C (p.Gly144Ala)
4g.99420756C>TCA357497810ADH7c.602G>A (p.Gly201Glu)
c.638G>A (p.Gly213Glu)
c.662G>A (p.Gly221Glu)
c.431G>A (p.Gly144Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.99420757C>ACA357497812ADH7c.601G>T (p.Gly201Ter)
c.637G>T (p.Gly213Ter)
c.661G>T (p.Gly221Ter)
c.430G>T (p.Gly144Ter)
4g.99420757C=CA1479994424ADH7c.601G= (p.Gly201=)
c.637G= (p.Gly213=)
c.661G= (p.Gly221=)
c.430G= (p.Gly144=)
4g.99420757C>GCA357497813ADH7c.601G>C (p.Gly201Arg)
c.637G>C (p.Gly213Arg)
c.661G>C (p.Gly221Arg)
c.430G>C (p.Gly144Arg)
4g.99420757C>TCA357497814ADH7c.601G>A (p.Gly201Arg)
c.637G>A (p.Gly213Arg)
c.661G>A (p.Gly221Arg)
c.430G>A (p.Gly144Arg)
 dbSNP gnomAD v4
4g.99420758C>ACA440506498ADH7c.600G>T (p.Leu200=)
c.636G>T (p.Leu212=)
c.660G>T (p.Leu220=)
c.429G>T (p.Leu143=)
4g.99420758C=CA1479994426ADH7c.600G= (p.Leu200=)
c.636G= (p.Leu212=)
c.660G= (p.Leu220=)
c.429G= (p.Leu143=)
4g.99420758C>GCA440506499ADH7c.600G>C (p.Leu200=)
c.636G>C (p.Leu212=)
c.660G>C (p.Leu220=)
c.429G>C (p.Leu143=)
 dbSNP gnomAD v4
4g.99420758C>TCA3020769ADH7c.600G>A (p.Leu200=)
c.636G>A (p.Leu212=)
c.660G>A (p.Leu220=)
c.429G>A (p.Leu143=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420759A=CA1479994429ADH7c.599T= (p.Leu200=)
c.635T= (p.Leu212=)
c.659T= (p.Leu220=)
c.428T= (p.Leu143=)
4g.99420759A>CCA3020770ADH7c.599T>G (p.Leu200Arg)
c.635T>G (p.Leu212Arg)
c.659T>G (p.Leu220Arg)
c.428T>G (p.Leu143Arg)
 dbSNP ExAC gnomAD v2
4g.99420759A>GCA357497815ADH7c.599T>C (p.Leu200Pro)
c.635T>C (p.Leu212Pro)
c.659T>C (p.Leu220Pro)
c.428T>C (p.Leu143Pro)
4g.99420759A>TCA357497816ADH7c.599T>A (p.Leu200Gln)
c.635T>A (p.Leu212Gln)
c.659T>A (p.Leu220Gln)
c.428T>A (p.Leu143Gln)
4g.99420760G>ACA440506500ADH7c.598C>T (p.Leu200=)
c.634C>T (p.Leu212=)
c.658C>T (p.Leu220=)
c.427C>T (p.Leu143=)
4g.99420760G>CCA357497817ADH7c.598C>G (p.Leu200Val)
c.634C>G (p.Leu212Val)
c.658C>G (p.Leu220Val)
c.427C>G (p.Leu143Val)
4g.99420760G>TCA357497818ADH7c.598C>A (p.Leu200Met)
c.634C>A (p.Leu212Met)
c.658C>A (p.Leu220Met)
c.427C>A (p.Leu143Met)
4g.99420761G>ACA440506501ADH7c.597C>T (p.Gly199=)
c.633C>T (p.Gly211=)
c.657C>T (p.Gly219=)
c.426C>T (p.Gly142=)
 gnomAD v4
4g.99420761G>CCA440506502ADH7c.597C>G (p.Gly199=)
c.633C>G (p.Gly211=)
c.657C>G (p.Gly219=)
c.426C>G (p.Gly142=)
4g.99420761G>TCA440506503ADH7c.597C>A (p.Gly199=)
c.633C>A (p.Gly211=)
c.657C>A (p.Gly219=)
c.426C>A (p.Gly142=)
4g.99420762C>ACA357497819ADH7c.596G>T (p.Gly199Val)
c.632G>T (p.Gly211Val)
c.656G>T (p.Gly219Val)
c.425G>T (p.Gly142Val)
4g.99420762C>GCA357497820ADH7c.596G>C (p.Gly199Ala)
c.632G>C (p.Gly211Ala)
c.656G>C (p.Gly219Ala)
c.425G>C (p.Gly142Ala)
4g.99420762C>TCA357497821ADH7c.596G>A (p.Gly199Asp)
c.632G>A (p.Gly211Asp)
c.656G>A (p.Gly219Asp)
c.425G>A (p.Gly142Asp)
4g.99420763C>ACA357497824ADH7c.595G>T (p.Gly199Cys)
c.631G>T (p.Gly211Cys)
c.655G>T (p.Gly219Cys)
c.424G>T (p.Gly142Cys)
4g.99420763C>GCA357497822ADH7c.595G>C (p.Gly199Arg)
c.631G>C (p.Gly211Arg)
c.655G>C (p.Gly219Arg)
c.424G>C (p.Gly142Arg)
4g.99420763C>TCA357497823ADH7c.595G>A (p.Gly199Ser)
c.631G>A (p.Gly211Ser)
c.655G>A (p.Gly219Ser)
c.424G>A (p.Gly142Ser)
4g.99420764A>CCA357497825ADH7c.594T>G (p.Phe198Leu)
c.630T>G (p.Phe210Leu)
c.654T>G (p.Phe218Leu)
c.423T>G (p.Phe141Leu)
 COSMIC
4g.99420764A>GCA440506504ADH7c.594T>C (p.Phe198=)
c.630T>C (p.Phe210=)
c.654T>C (p.Phe218=)
c.423T>C (p.Phe141=)
4g.99420764A>TCA357497826ADH7c.594T>A (p.Phe198Leu)
c.630T>A (p.Phe210Leu)
c.654T>A (p.Phe218Leu)
c.423T>A (p.Phe141Leu)
4g.99420765A=CA1479994431ADH7c.593T= (p.Phe198=)
c.629T= (p.Phe210=)
c.653T= (p.Phe218=)
c.422T= (p.Phe141=)
4g.99420765A>CCA357497827ADH7c.593T>G (p.Phe198Cys)
c.629T>G (p.Phe210Cys)
c.653T>G (p.Phe218Cys)
c.422T>G (p.Phe141Cys)
4g.99420765A>GCA3020771ADH7c.593T>C (p.Phe198Ser)
c.629T>C (p.Phe210Ser)
c.653T>C (p.Phe218Ser)
c.422T>C (p.Phe141Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420765A>TCA357497828ADH7c.593T>A (p.Phe198Tyr)
c.629T>A (p.Phe210Tyr)
c.653T>A (p.Phe218Tyr)
c.422T>A (p.Phe141Tyr)
4g.99420766A>CCA357497829ADH7c.592T>G (p.Phe198Val)
c.628T>G (p.Phe210Val)
c.652T>G (p.Phe218Val)
c.421T>G (p.Phe141Val)
4g.99420766A>GCA357497830ADH7c.592T>C (p.Phe198Leu)
c.628T>C (p.Phe210Leu)
c.652T>C (p.Phe218Leu)
c.421T>C (p.Phe141Leu)
4g.99420766A>TCA357497831ADH7c.592T>A (p.Phe198Ile)
c.628T>A (p.Phe210Ile)
c.652T>A (p.Phe218Ile)
c.421T>A (p.Phe141Ile)
4g.99420767G>ACA3020772ADH7c.591C>T (p.Val197=)
c.627C>T (p.Val209=)
c.651C>T (p.Val217=)
c.420C>T (p.Val140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420767G>CCA440506506ADH7c.591C>G (p.Val197=)
c.627C>G (p.Val209=)
c.651C>G (p.Val217=)
c.420C>G (p.Val140=)
4g.99420767G=CA1479994433ADH7c.591C= (p.Val197=)
c.627C= (p.Val209=)
c.651C= (p.Val217=)
c.420C= (p.Val140=)
4g.99420767G>TCA440506505ADH7c.591C>A (p.Val197=)
c.627C>A (p.Val209=)
c.651C>A (p.Val217=)
c.420C>A (p.Val140=)
4g.99420768A=CA1479994437ADH7c.590T= (p.Val197=)
c.626T= (p.Val209=)
c.650T= (p.Val217=)
c.419T= (p.Val140=)
4g.99420768A>CCA357497832ADH7c.590T>G (p.Val197Gly)
c.626T>G (p.Val209Gly)
c.650T>G (p.Val217Gly)
c.419T>G (p.Val140Gly)
4g.99420768A>GCA3020773ADH7c.590T>C (p.Val197Ala)
c.626T>C (p.Val209Ala)
c.650T>C (p.Val217Ala)
c.419T>C (p.Val140Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.99420768A>TCA357497833ADH7c.590T>A (p.Val197Asp)
c.626T>A (p.Val209Asp)
c.650T>A (p.Val217Asp)
c.419T>A (p.Val140Asp)
4g.99420769C>ACA357497835ADH7c.589G>T (p.Val197Phe)
c.625G>T (p.Val209Phe)
c.649G>T (p.Val217Phe)
c.418G>T (p.Val140Phe)
 gnomAD v4
4g.99420769C=CA1479994443ADH7c.589G= (p.Val197=)
c.625G= (p.Val209=)
c.649G= (p.Val217=)
c.418G= (p.Val140=)
4g.99420769C>GCA357497834ADH7c.589G>C (p.Val197Leu)
c.625G>C (p.Val209Leu)
c.649G>C (p.Val217Leu)
c.418G>C (p.Val140Leu)
4g.99420769C>TCA3020774ADH7c.589G>A (p.Val197Ile)
c.625G>A (p.Val209Ile)
c.649G>A (p.Val217Ile)
c.418G>A (p.Val140Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420769_99420770insACCCCA2762806156ADH7c.589_590insGGTG (p.Val197GlyfsTer17)
c.625_626insGGTG (p.Val209GlyfsTer17)
c.649_650insGGTG (p.Val217GlyfsTer17)
c.418_419insGGTG (p.Val140GlyfsTer17)
4g.99420770G>ACA102646312ADH7c.588C>T (p.Val196=)
c.624C>T (p.Val208=)
c.648C>T (p.Val216=)
c.417C>T (p.Val139=)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.99420770G>CCA440506507ADH7c.588C>G (p.Val196=)
c.624C>G (p.Val208=)
c.648C>G (p.Val216=)
c.417C>G (p.Val139=)
4g.99420770G=CA1479994448ADH7c.588C= (p.Val196=)
c.624C= (p.Val208=)
c.648C= (p.Val216=)
c.417C= (p.Val139=)
4g.99420770G>TCA440506508ADH7c.588C>A (p.Val196=)
c.624C>A (p.Val208=)
c.648C>A (p.Val216=)
c.417C>A (p.Val139=)
4g.99420771A>CCA357497836ADH7c.587T>G (p.Val196Gly)
c.623T>G (p.Val208Gly)
c.647T>G (p.Val216Gly)
c.416T>G (p.Val139Gly)
4g.99420771A>GCA357497837ADH7c.587T>C (p.Val196Ala)
c.623T>C (p.Val208Ala)
c.647T>C (p.Val216Ala)
c.416T>C (p.Val139Ala)
4g.99420771A>TCA357497838ADH7c.587T>A (p.Val196Asp)
c.623T>A (p.Val208Asp)
c.647T>A (p.Val216Asp)
c.416T>A (p.Val139Asp)
4g.99420772C>ACA3020776ADH7c.586G>T (p.Val196Phe)
c.622G>T (p.Val208Phe)
c.646G>T (p.Val216Phe)
c.415G>T (p.Val139Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420772C=CA1479994453ADH7c.586G= (p.Val196=)
c.622G= (p.Val208=)
c.646G= (p.Val216=)
c.415G= (p.Val139=)
4g.99420772C>GCA102646339ADH7c.586G>C (p.Val196Leu)
c.622G>C (p.Val208Leu)
c.646G>C (p.Val216Leu)
c.415G>C (p.Val139Leu)
 dbSNP gnomAD v4
4g.99420772C>TCA3020775ADH7c.586G>A (p.Val196Ile)
c.622G>A (p.Val208Ile)
c.646G>A (p.Val216Ile)
c.415G>A (p.Val139Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420773G>ACA3020777ADH7c.585C>T (p.Cys195=)
c.621C>T (p.Cys207=)
c.645C>T (p.Cys215=)
c.414C>T (p.Cys138=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.99420773G>CCA102646361ADH7c.585C>G (p.Cys195Trp)
c.621C>G (p.Cys207Trp)
c.645C>G (p.Cys215Trp)
c.414C>G (p.Cys138Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420773G=CA1479994457ADH7c.585C= (p.Cys195=)
c.621C= (p.Cys207=)
c.645C= (p.Cys215=)
c.414C= (p.Cys138=)
4g.99420773G>TCA357497839ADH7c.585C>A (p.Cys195Ter)
c.621C>A (p.Cys207Ter)
c.645C>A (p.Cys215Ter)
c.414C>A (p.Cys138Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched