Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.96145146C>ACA371751856GDF6c.785G>T (p.Ser262Ile)
c.723G>T (p.Glu241Asp)
c.386G>T (p.Ser129Ile)
 gnomAD v4
8g.96145146C=CA1804261948GDF6c.785G= (p.Ser262=)
c.723G= (p.Glu241=)
c.386G= (p.Ser129=)
8g.96145146C>GCA371751857GDF6c.785G>C (p.Ser262Thr)
c.723G>C (p.Glu241Asp)
c.386G>C (p.Ser129Thr)
 dbSNP gnomAD v2
8g.96145146C>TCA4815408GDF6c.785G>A (p.Ser262Asn)
c.723G>A (p.Glu241=)
c.386G>A (p.Ser129Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145147T>ACA371751860GDF6c.784A>T (p.Ser262Cys)
c.722A>T (p.Glu241Val)
c.385A>T (p.Ser129Cys)
 gnomAD v4
8g.96145147T>CCA371751858GDF6c.784A>G (p.Ser262Gly)
c.722A>G (p.Glu241Gly)
c.385A>G (p.Ser129Gly)
 gnomAD v4
8g.96145147T>GCA371751859GDF6c.784A>C (p.Ser262Arg)
c.722A>C (p.Glu241Ala)
c.385A>C (p.Ser129Arg)
8g.96145148C>ACA371751861GDF6c.783G>T (p.Arg261=)
c.721G>T (p.Glu241Ter)
c.384G>T (p.Arg128=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145148C=CA1804261959GDF6c.783G= (p.Arg261=)
c.721G= (p.Glu241=)
c.384G= (p.Arg128=)
8g.96145148C>GCA371751862GDF6c.783G>C (p.Arg261=)
c.721G>C (p.Glu241Gln)
c.384G>C (p.Arg128=)
 dbSNP gnomAD v4
8g.96145148C>TCA371751863GDF6c.783G>A (p.Arg261=)
c.721G>A (p.Glu241Lys)
c.384G>A (p.Arg128=)
 gnomAD v4
8g.96145149C>ACA371751864GDF6c.782G>T (p.Arg261Leu)
c.720G>T (p.Ala240=)
c.383G>T (p.Arg128Leu)
 gnomAD v4
8g.96145149C>GCA371751865GDF6c.782G>C (p.Arg261Pro)
c.720G>C (p.Ala240=)
c.383G>C (p.Arg128Pro)
8g.96145149C>TCA371751866GDF6c.782G>A (p.Arg261Gln)
c.720G>A (p.Ala240=)
c.383G>A (p.Arg128Gln)
 gnomAD v4 COSMIC
8g.96145150G>ACA371751867GDF6c.781C>T (p.Arg261Trp)
c.719C>T (p.Ala240Val)
c.382C>T (p.Arg128Trp)
 gnomAD v4
8g.96145150G>CCA371751868GDF6c.781C>G (p.Arg261Gly)
c.719C>G (p.Ala240Gly)
c.382C>G (p.Arg128Gly)
8g.96145150G>TCA371751869GDF6c.781C>A (p.Arg261=)
c.719C>A (p.Ala240Glu)
c.382C>A (p.Arg128=)
 gnomAD v4 COSMIC
8g.96145151C>ACA371751870GDF6c.780G>T (p.Leu260=)
c.718G>T (p.Ala240Ser)
c.381G>T (p.Leu127=)
 gnomAD v4
8g.96145151C>GCA371751871GDF6c.780G>C (p.Leu260=)
c.718G>C (p.Ala240Pro)
c.381G>C (p.Leu127=)
8g.96145151C>TCA371751872GDF6c.780G>A (p.Leu260=)
c.718G>A (p.Ala240Thr)
c.381G>A (p.Leu127=)
 gnomAD v4
8g.96145152A=CA1804261967GDF6c.779T= (p.Leu260=)
c.717T= (p.Pro239=)
c.380T= (p.Leu127=)
8g.96145152A>CCA371751875GDF6c.779T>G (p.Leu260Arg)
c.717T>G (p.Pro239=)
c.380T>G (p.Leu127Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.96145152A>GCA371751874GDF6c.779T>C (p.Leu260Pro)
c.717T>C (p.Pro239=)
c.380T>C (p.Leu127Pro)
 gnomAD v4
8g.96145152A>TCA371751873GDF6c.779T>A (p.Leu260Gln)
c.717T>A (p.Pro239=)
c.380T>A (p.Leu127Gln)
 gnomAD v4
8g.96145153G>ACA371751876GDF6c.778C>T (p.Leu260=)
c.716C>T (p.Pro239Leu)
c.379C>T (p.Leu127=)
 gnomAD v4
8g.96145153G>CCA371751877GDF6c.778C>G (p.Leu260Val)
c.716C>G (p.Pro239Arg)
c.379C>G (p.Leu127Val)
8g.96145153G>TCA371751878GDF6c.778C>A (p.Leu260Met)
c.716C>A (p.Pro239His)
c.379C>A (p.Leu127Met)
 gnomAD v4
8g.96145154G>ACA371751879GDF6c.777C>T (p.Asp259=)
c.715C>T (p.Pro239Ser)
c.378C>T (p.Asp126=)
 gnomAD v4
8g.96145154G>CCA371751880GDF6c.777C>G (p.Asp259Glu)
c.715C>G (p.Pro239Ala)
c.378C>G (p.Asp126Glu)
8g.96145154G>TCA371751881GDF6c.777C>A (p.Asp259Glu)
c.715C>A (p.Pro239Thr)
c.378C>A (p.Asp126Glu)
 gnomAD v4
8g.96145155T>ACA371751884GDF6c.776A>T (p.Asp259Val)
c.714A>T (p.Gly238=)
c.377A>T (p.Asp126Val)
8g.96145155T>CCA371751883GDF6c.776A>G (p.Asp259Gly)
c.714A>G (p.Gly238=)
c.377A>G (p.Asp126Gly)
 gnomAD v4
8g.96145155T>GCA371751882GDF6c.776A>C (p.Asp259Ala)
c.714A>C (p.Gly238=)
c.377A>C (p.Asp126Ala)
8g.96145156C>ACA371751885GDF6c.775G>T (p.Asp259Tyr)
c.713G>T (p.Gly238Val)
c.376G>T (p.Asp126Tyr)
 gnomAD v4
8g.96145156C>GCA371751886GDF6c.775G>C (p.Asp259His)
c.713G>C (p.Gly238Ala)
c.376G>C (p.Asp126His)
8g.96145156C>TCA371751887GDF6c.775G>A (p.Asp259Asn)
c.713G>A (p.Gly238Glu)
c.376G>A (p.Asp126Asn)
 gnomAD v4
8g.96145157C>ACA4815409GDF6c.774G>T (p.Pro258=)
c.712G>T (p.Gly238Ter)
c.375G>T (p.Pro125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145157C=CA1804261973GDF6c.774G= (p.Pro258=)
c.712G= (p.Gly238=)
c.375G= (p.Pro125=)
8g.96145157C>GCA371751888GDF6c.774G>C (p.Pro258=)
c.712G>C (p.Gly238Arg)
c.375G>C (p.Pro125=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145157C>TCA371751889GDF6c.774G>A (p.Pro258=)
c.712G>A (p.Gly238Arg)
c.375G>A (p.Pro125=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145158G>ACA371751890GDF6c.773C>T (p.Pro258Leu)
c.711C>T (p.Pro237=)
c.374C>T (p.Pro125Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.96145158G>CCA371751892GDF6c.773C>G (p.Pro258Arg)
c.711C>G (p.Pro237=)
c.374C>G (p.Pro125Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145158G=CA1804261977GDF6c.773C= (p.Pro258=)
c.711C= (p.Pro237=)
c.374C= (p.Pro125=)
8g.96145158G>TCA371751891GDF6c.773C>A (p.Pro258Gln)
c.711C>A (p.Pro237=)
c.374C>A (p.Pro125Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.96145162dupCA2687993835GDF6c.773dup (p.Asp259GlyfsTer?)
c.711dup (p.Gly238ArgfsTer?)
c.374dup (p.Asp126GlyfsTer?)
 gnomAD v4
8g.96145162delCA583845613GDF6c.773del (p.Pro258ArgfsTer?)
c.711del (p.Gly238AspfsTer?)
c.374del (p.Pro125ArgfsTer?)
 gnomAD v2 gnomAD v4
8g.96145159G>ACA371751893GDF6c.772C>T (p.Pro258Ser)
c.710C>T (p.Pro237Leu)
c.373C>T (p.Pro125Ser)
 gnomAD v4
8g.96145159G>CCA371751894GDF6c.772C>G (p.Pro258Ala)
c.710C>G (p.Pro237Arg)
c.373C>G (p.Pro125Ala)
8g.96145159G>TCA371751895GDF6c.772C>A (p.Pro258Thr)
c.710C>A (p.Pro237His)
c.373C>A (p.Pro125Thr)
 gnomAD v4 COSMIC
8g.96145160G>ACA371751896GDF6c.771C>T (p.Pro257=)
c.709C>T (p.Pro237Ser)
c.372C>T (p.Pro124=)
 gnomAD v4
8g.96145160G>CCA371751897GDF6c.771C>G (p.Pro257=)
c.709C>G (p.Pro237Ala)
c.372C>G (p.Pro124=)
 gnomAD v4
8g.96145160G>TCA371751898GDF6c.771C>A (p.Pro257=)
c.709C>A (p.Pro237Thr)
c.372C>A (p.Pro124=)
 gnomAD v4
8g.96145161G>ACA10631741GDF6c.770C>T (p.Pro257Leu)
c.708C>T (p.Ala236=)
c.371C>T (p.Pro124Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145161G>CCA371751899GDF6c.770C>G (p.Pro257Arg)
c.708C>G (p.Ala236=)
c.371C>G (p.Pro124Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.96145161G=CA1804261990GDF6c.770C= (p.Pro257=)
c.708C= (p.Ala236=)
c.371C= (p.Pro124=)
8g.96145161G>TCA371751900GDF6c.770C>A (p.Pro257His)
c.708C>A (p.Ala236=)
c.371C>A (p.Pro124His)
 gnomAD v4
8g.96145162G>ACA4815410GDF6c.769C>T (p.Pro257Ser)
c.707C>T (p.Ala236Val)
c.370C>T (p.Pro124Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145162G>CCA371751901GDF6c.769C>G (p.Pro257Ala)
c.707C>G (p.Ala236Gly)
c.370C>G (p.Pro124Ala)
 gnomAD v4
8g.96145162G=CA1804262005GDF6c.769C= (p.Pro257=)
c.707C= (p.Ala236=)
c.370C= (p.Pro124=)
8g.96145162G>TCA371751902GDF6c.769C>A (p.Pro257Thr)
c.707C>A (p.Ala236Asp)
c.370C>A (p.Pro124Thr)
 gnomAD v4
8g.96145163C>ACA371751903GDF6c.768G>T (p.Pro256=)
c.707-1G>T (n.707-1G>T)
c.369G>T (p.Pro123=)
 gnomAD v4
8g.96145163C=CA1804262014GDF6c.768G= (p.Pro256=)
c.707-1G= (n.707-1G=)
c.369G= (p.Pro123=)
8g.96145163C>GCA371751905GDF6c.768G>C (p.Pro256=)
c.707-1G>C (n.707-1G>C)
c.369G>C (p.Pro123=)
 dbSNP gnomAD v4
8g.96145163C>TCA371751904GDF6c.768G>A (p.Pro256=)
c.707-1G>A (n.707-1G>A)
c.369G>A (p.Pro123=)
 gnomAD v4
8g.96145164G>ACA371751906GDF6c.767C>T (p.Pro256Leu)
c.707-2C>T (n.707-2C>T)
c.368C>T (p.Pro123Leu)
 ClinVar dbSNP gnomAD v4
8g.96145164G>CCA371751907GDF6c.767C>G (p.Pro256Arg)
c.707-2C>G (n.707-2C>G)
c.368C>G (p.Pro123Arg)
 gnomAD v4
8g.96145164G=CA1804262016GDF6c.767C= (p.Pro256=)
c.707-2C= (n.707-2C=)
c.368C= (p.Pro123=)
8g.96145164G>TCA371751908GDF6c.767C>A (p.Pro256Gln)
c.707-2C>A (n.707-2C>A)
c.368C>A (p.Pro123Gln)
 gnomAD v4
8g.96145165G>ACA371751909GDF6c.766C>T (p.Pro256Ser)
c.707-3C>T (n.707-3C>T)
c.367C>T (p.Pro123Ser)
 gnomAD v4
8g.96145165G>CCA371751910GDF6c.766C>G (p.Pro256Ala)
c.707-3C>G (n.707-3C>G)
c.367C>G (p.Pro123Ala)
 dbSNP gnomAD v4
8g.96145165G=CA1804262019GDF6c.766C= (p.Pro256=)
c.707-3C= (n.707-3C=)
c.367C= (p.Pro123=)
8g.96145165G>TCA371751911GDF6c.766C>A (p.Pro256Thr)
c.707-3C>A (n.707-3C>A)
c.367C>A (p.Pro123Thr)
 gnomAD v4
8g.96145166C>ACA181485037GDF6c.765G>T (p.Pro255=)
c.707-4G>T (n.707-4G>T)
c.366G>T (p.Pro122=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145166C=CA1804262020GDF6c.765G= (p.Pro255=)
c.707-4G= (n.707-4G=)
c.366G= (p.Pro122=)
8g.96145166C>GCA462454570GDF6c.765G>C (p.Pro255=)
c.707-4G>C (n.707-4G>C)
c.366G>C (p.Pro122=)
8g.96145166C>TCA462454572GDF6c.765G>A (p.Pro255=)
c.707-4G>A (n.707-4G>A)
c.366G>A (p.Pro122=)
 gnomAD v4
8g.96145167G>ACA4815411GDF6c.764C>T (p.Pro255Leu)
c.707-5C>T (n.707-5C>T)
c.365C>T (p.Pro122Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96145167G>CCA371751912GDF6c.764C>G (p.Pro255Arg)
c.707-5C>G (n.707-5C>G)
c.365C>G (p.Pro122Arg)
8g.96145167G=CA1804262025GDF6c.764C= (p.Pro255=)
c.707-5C= (n.707-5C=)
c.365C= (p.Pro122=)
8g.96145167G>TCA371751913GDF6c.764C>A (p.Pro255Gln)
c.707-5C>A (n.707-5C>A)
c.365C>A (p.Pro122Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145168G>ACA371751914GDF6c.763C>T (p.Pro255Ser)
c.707-6C>T (n.707-6C>T)
c.364C>T (p.Pro122Ser)
 gnomAD v4
8g.96145168G>CCA371751915GDF6c.763C>G (p.Pro255Ala)
c.707-6C>G (n.707-6C>G)
c.364C>G (p.Pro122Ala)
8g.96145168G>TCA371751916GDF6c.763C>A (p.Pro255Thr)
c.707-6C>A (n.707-6C>A)
c.364C>A (p.Pro122Thr)
 gnomAD v4
8g.96145169T>ACA371751918GDF6c.762A>T (p.Gln254His)
c.707-7A>T (n.707-7A>T)
c.363A>T (p.Gln121His)
8g.96145169T>CCA462454573GDF6c.762A>G (p.Gln254=)
c.707-7A>G (n.707-7A>G)
c.363A>G (p.Gln121=)
8g.96145169T>GCA371751917GDF6c.762A>C (p.Gln254His)
c.707-7A>C (n.707-7A>C)
c.363A>C (p.Gln121His)
 dbSNP
8g.96145170T>ACA371751919GDF6c.761A>T (p.Gln254Leu)
c.707-8A>T (n.707-8A>T)
c.362A>T (p.Gln121Leu)
8g.96145170T>CCA371751920GDF6c.761A>G (p.Gln254Arg)
c.707-8A>G (n.707-8A>G)
c.362A>G (p.Gln121Arg)
 gnomAD v4
8g.96145170T>GCA371751921GDF6c.761A>C (p.Gln254Pro)
c.707-8A>C (n.707-8A>C)
c.362A>C (p.Gln121Pro)
8g.96145171G>ACA371751922GDF6c.760C>T (p.Gln254Ter)
c.707-9C>T (n.707-9C>T)
c.361C>T (p.Gln121Ter)
 gnomAD v4
8g.96145171G>CCA371751923GDF6c.760C>G (p.Gln254Glu)
c.707-9C>G (n.707-9C>G)
c.361C>G (p.Gln121Glu)
8g.96145171G>TCA371751924GDF6c.760C>A (p.Gln254Lys)
c.707-9C>A (n.707-9C>A)
c.361C>A (p.Gln121Lys)
 gnomAD v4
8g.96145172C>ACA371751925GDF6c.759G>T (p.Gln253His)
c.707-10G>T (n.707-10G>T)
c.360G>T (p.Gln120His)
 gnomAD v4
8g.96145172C=CA1804262034GDF6c.759G= (p.Gln253=)
c.707-10G= (n.707-10G=)
c.360G= (p.Gln120=)
8g.96145172C>GCA371751926GDF6c.759G>C (p.Gln253His)
c.707-10G>C (n.707-10G>C)
c.360G>C (p.Gln120His)
8g.96145172C>TCA4815412GDF6c.759G>A (p.Gln253=)
c.707-10G>A (n.707-10G>A)
c.360G>A (p.Gln120=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145173T>ACA119559GDF6c.758A>T (p.Gln253Leu)
c.707-11A>T (n.707-11A>T)
c.359A>T (p.Gln120Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145173T>CCA371751927GDF6c.758A>G (p.Gln253Arg)
c.707-11A>G (n.707-11A>G)
c.359A>G (p.Gln120Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145173T>GCA371751928GDF6c.758A>C (p.Gln253Pro)
c.707-11A>C (n.707-11A>C)
c.359A>C (p.Gln120Pro)
 gnomAD v4
8g.96145173T=CA1804262041GDF6c.758A= (p.Gln253=)
c.707-11A= (n.707-11A=)
c.359A= (p.Gln120=)
8g.96145174G>ACA371751931GDF6c.757C>T (p.Gln253Ter)
c.707-12C>T (n.707-12C>T)
c.358C>T (p.Gln120Ter)
 gnomAD v4
8g.96145174G>CCA371751930GDF6c.757C>G (p.Gln253Glu)
c.707-12C>G (n.707-12C>G)
c.358C>G (p.Gln120Glu)
8g.96145174G>TCA371751929GDF6c.757C>A (p.Gln253Lys)
c.707-12C>A (n.707-12C>A)
c.358C>A (p.Gln120Lys)
 gnomAD v4
8g.96145177delCA2687993836GDF6c.757del (p.Gln253SerfsTer?)
c.707-12del (n.707-12del)
c.358del (p.Gln120SerfsTer?)
 gnomAD v4
8g.96145175G>ACA4815413GDF6c.756C>T (p.Pro252=)
c.707-13C>T (n.707-13C>T)
c.357C>T (p.Pro119=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145175G>CCA462454582GDF6c.756C>G (p.Pro252=)
c.707-13C>G (n.707-13C>G)
c.357C>G (p.Pro119=)
8g.96145175G=CA1804262052GDF6c.756C= (p.Pro252=)
c.707-13C= (n.707-13C=)
c.357C= (p.Pro119=)
8g.96145175G>TCA462454583GDF6c.756C>A (p.Pro252=)
c.707-13C>A (n.707-13C>A)
c.357C>A (p.Pro119=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145176G>ACA371751933GDF6c.755C>T (p.Pro252Leu)
c.707-14C>T (n.707-14C>T)
c.356C>T (p.Pro119Leu)
 gnomAD v4
8g.96145176G>CCA371751932GDF6c.755C>G (p.Pro252Arg)
c.707-14C>G (n.707-14C>G)
c.356C>G (p.Pro119Arg)
 ClinVar
8g.96145176G>TCA371751934GDF6c.755C>A (p.Pro252His)
c.707-14C>A (n.707-14C>A)
c.356C>A (p.Pro119His)
 gnomAD v4
8g.96145177G>ACA371751935GDF6c.754C>T (p.Pro252Ser)
c.707-15C>T (n.707-15C>T)
c.355C>T (p.Pro119Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.96145177G>CCA371751936GDF6c.754C>G (p.Pro252Ala)
c.707-15C>G (n.707-15C>G)
c.355C>G (p.Pro119Ala)
8g.96145177G=CA1804262061GDF6c.754C= (p.Pro252=)
c.707-15C= (n.707-15C=)
c.355C= (p.Pro119=)
8g.96145177G>TCA371751937GDF6c.754C>A (p.Pro252Thr)
c.707-15C>A (n.707-15C>A)
c.355C>A (p.Pro119Thr)
 gnomAD v4
8g.96145178T>ACA462454584GDF6c.753A>T (p.Gly251=)
c.707-16A>T (n.707-16A>T)
c.354A>T (p.Gly118=)
 gnomAD v4
8g.96145178T>CCA462454585GDF6c.753A>G (p.Gly251=)
c.707-16A>G (n.707-16A>G)
c.354A>G (p.Gly118=)
8g.96145178T>GCA462454586GDF6c.753A>C (p.Gly251=)
c.707-16A>C (n.707-16A>C)
c.354A>C (p.Gly118=)
 gnomAD v4
8g.96145179C>ACA371751938GDF6c.752G>T (p.Gly251Val)
c.707-17G>T (n.707-17G>T)
c.353G>T (p.Gly118Val)
 dbSNP gnomAD v3 gnomAD v4
8g.96145179C=CA1804262068GDF6c.752G= (p.Gly251=)
c.707-17G= (n.707-17G=)
c.353G= (p.Gly118=)
8g.96145179C>GCA371751939GDF6c.752G>C (p.Gly251Ala)
c.707-17G>C (n.707-17G>C)
c.353G>C (p.Gly118Ala)
8g.96145179C>TCA371751940GDF6c.752G>A (p.Gly251Glu)
c.707-17G>A (n.707-17G>A)
c.353G>A (p.Gly118Glu)
8g.96145182delCA2687993837GDF6c.752del (p.Gly251AspfsTer?)
c.707-17del (n.707-17del)
c.353del (p.Gly118AspfsTer?)
 gnomAD v4
8g.96145180C>ACA371751941GDF6c.751G>T (p.Gly251Ter)
c.707-18G>T (n.707-18G>T)
c.352G>T (p.Gly118Ter)
 gnomAD v4
8g.96145180C=CA1804262076GDF6c.751G= (p.Gly251=)
c.707-18G= (n.707-18G=)
c.352G= (p.Gly118=)
8g.96145180C>GCA371751942GDF6c.751G>C (p.Gly251Arg)
c.707-18G>C (n.707-18G>C)
c.352G>C (p.Gly118Arg)
8g.96145180C>TCA371751943GDF6c.751G>A (p.Gly251Arg)
c.707-18G>A (n.707-18G>A)
c.352G>A (p.Gly118Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145181C>ACA462454591GDF6c.750G>T (p.Arg250=)
c.707-19G>T (n.707-19G>T)
c.351G>T (p.Arg117=)
 gnomAD v4
8g.96145181C>GCA462454593GDF6c.750G>C (p.Arg250=)
c.707-19G>C (n.707-19G>C)
c.351G>C (p.Arg117=)
8g.96145181C>TCA462454590GDF6c.750G>A (p.Arg250=)
c.707-19G>A (n.707-19G>A)
c.351G>A (p.Arg117=)
 gnomAD v4
8g.96145181_96145183delinsCCGCA1804262083GDF6c.748_750delinsCGG (p.Arg250=)
c.707-21_707-19delinsCGG (n.707-21_707-19delinsCGG)
c.349_351delinsCGG (p.Arg117=)
8g.96145181_96145182insACACA2781376672GDF6c.749_750insTGT (p.Arg250_Gly251insVal)
c.707-20_707-19insTGT (n.707-20_707-19insTGT)
c.350_351insTGT (p.Arg117_Gly118insVal)
8g.96145182C>ACA371751944GDF6c.749G>T (p.Arg250Leu)
c.707-20G>T (n.707-20G>T)
c.350G>T (p.Arg117Leu)
 gnomAD v4
8g.96145182C=CA1804262088GDF6c.749G= (p.Arg250=)
c.707-20G= (n.707-20G=)
c.350G= (p.Arg117=)
8g.96145182C>GCA4815415GDF6c.749G>C (p.Arg250Pro)
c.707-20G>C (n.707-20G>C)
c.350G>C (p.Arg117Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145182C>TCA371751945GDF6c.749G>A (p.Arg250Gln)
c.707-20G>A (n.707-20G>A)
c.350G>A (p.Arg117Gln)
 gnomAD v4
8g.96145191_96145192dupCA1116878490GDF6c.748_749dup (p.Pro252AspfsTer?)
c.707-21_707-20dup (n.707-21_707-20dup)
c.349_350dup (p.Pro119AspfsTer?)
 dbSNP gnomAD v3 gnomAD v4
8g.96145191_96145192delCA4815414GDF6c.748_749del (p.Arg250GlyfsTer?)
c.707-21_707-20del (n.707-21_707-20del)
c.349_350del (p.Arg117GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.96145183G>ACA371751946GDF6c.748C>T (p.Arg250Trp)
c.707-21C>T (n.707-21C>T)
c.349C>T (p.Arg117Trp)
 gnomAD v4
8g.96145183G>CCA371751947GDF6c.748C>G (p.Arg250Gly)
c.707-21C>G (n.707-21C>G)
c.349C>G (p.Arg117Gly)
 gnomAD v4
8g.96145183G>TCA462454596GDF6c.748C>A (p.Arg250=)
c.707-21C>A (n.707-21C>A)
c.349C>A (p.Arg117=)
 gnomAD v4
8g.96145184C>ACA4815416GDF6c.747G>T (p.Ala249=)
c.707-22G>T (n.707-22G>T)
c.348G>T (p.Ala116=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145184C=CA1804262094GDF6c.747G= (p.Ala249=)
c.707-22G= (n.707-22G=)
c.348G= (p.Ala116=)
8g.96145184C>GCA462454601GDF6c.747G>C (p.Ala249=)
c.707-22G>C (n.707-22G>C)
c.348G>C (p.Ala116=)
8g.96145184C>TCA462454602GDF6c.747G>A (p.Ala249=)
c.707-22G>A (n.707-22G>A)
c.348G>A (p.Ala116=)
 gnomAD v4
8g.96145185G>ACA371751948GDF6c.746C>T (p.Ala249Val)
c.707-23C>T (n.707-23C>T)
c.347C>T (p.Ala116Val)
8g.96145185G>CCA371751949GDF6c.746C>G (p.Ala249Gly)
c.707-23C>G (n.707-23C>G)
c.347C>G (p.Ala116Gly)
8g.96145185G=CA1804262100GDF6c.746C= (p.Ala249=)
c.707-23C= (n.707-23C=)
c.347C= (p.Ala116=)
8g.96145185G>TCA119555GDF6c.746C>A (p.Ala249Glu)
c.707-23C>A (n.707-23C>A)
c.347C>A (p.Ala116Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145186C>ACA371751950GDF6c.745G>T (p.Ala249Ser)
c.707-24G>T (n.707-24G>T)
c.346G>T (p.Ala116Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.96145186C=CA1804262107GDF6c.745G= (p.Ala249=)
c.707-24G= (n.707-24G=)
c.346G= (p.Ala116=)
8g.96145186C>GCA371751951GDF6c.745G>C (p.Ala249Pro)
c.707-24G>C (n.707-24G>C)
c.346G>C (p.Ala116Pro)
8g.96145186C>TCA371751952GDF6c.745G>A (p.Ala249Thr)
c.707-24G>A (n.707-24G>A)
c.346G>A (p.Ala116Thr)
 gnomAD v4
8g.96145187G>ACA462454603GDF6c.744C>T (p.Arg248=)
c.707-25C>T (n.707-25C>T)
c.345C>T (p.Arg115=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145187G>CCA462454604GDF6c.744C>G (p.Arg248=)
c.707-25C>G (n.707-25C>G)
c.345C>G (p.Arg115=)
 gnomAD v4
8g.96145187G=CA1804262110GDF6c.744C= (p.Arg248=)
c.707-25C= (n.707-25C=)
c.345C= (p.Arg115=)
8g.96145187G>TCA462454606GDF6c.744C>A (p.Arg248=)
c.707-25C>A (n.707-25C>A)
c.345C>A (p.Arg115=)
 gnomAD v4
8g.96145188C>ACA4815417GDF6c.743G>T (p.Arg248Leu)
c.707-26G>T (n.707-26G>T)
c.344G>T (p.Arg115Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145188C=CA1804262114GDF6c.743G= (p.Arg248=)
c.707-26G= (n.707-26G=)
c.344G= (p.Arg115=)
8g.96145188C>GCA371751953GDF6c.743G>C (p.Arg248Pro)
c.707-26G>C (n.707-26G>C)
c.344G>C (p.Arg115Pro)
8g.96145188C>TCA371751954GDF6c.743G>A (p.Arg248His)
c.707-26G>A (n.707-26G>A)
c.344G>A (p.Arg115His)
 gnomAD v4
8g.96145189G>ACA181485038GDF6c.742C>T (p.Arg248Cys)
c.707-27C>T (n.707-27C>T)
c.343C>T (p.Arg115Cys)
 ClinVar dbSNP gnomAD v4
8g.96145189G>CCA371751955GDF6c.742C>G (p.Arg248Gly)
c.707-27C>G (n.707-27C>G)
c.343C>G (p.Arg115Gly)
8g.96145189G=CA1804262122GDF6c.742C= (p.Arg248=)
c.707-27C= (n.707-27C=)
c.343C= (p.Arg115=)
8g.96145189G>TCA4815418GDF6c.742C>A (p.Arg248Ser)
c.707-27C>A (n.707-27C>A)
c.343C>A (p.Arg115Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145189_96145190delinsTTCA2573143518GDF6c.741_742delinsAA (p.Arg248Ser)
c.707-28_707-27delinsAA (n.707-28_707-27delinsAA)
c.342_343delinsAA (p.Arg115Ser)
 ClinVar dbSNP
8g.96145190C>ACA462454609GDF6c.741G>T (p.Ala247=)
c.707-28G>T (n.707-28G>T)
c.342G>T (p.Ala114=)
 gnomAD v4
8g.96145190C=CA1804262127GDF6c.741G= (p.Ala247=)
c.707-28G= (n.707-28G=)
c.342G= (p.Ala114=)
8g.96145190C>GCA462454611GDF6c.741G>C (p.Ala247=)
c.707-28G>C (n.707-28G>C)
c.342G>C (p.Ala114=)
8g.96145190C>TCA4815419GDF6c.741G>A (p.Ala247=)
c.707-28G>A (n.707-28G>A)
c.342G>A (p.Ala114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145191delCA2781376673GDF6c.740del (p.Ala247GlyfsTer?)
c.707-29del (n.707-29del)
c.341del (p.Ala114GlyfsTer?)
8g.96145191G>ACA371751956GDF6c.740C>T (p.Ala247Val)
c.707-29C>T (n.707-29C>T)
c.341C>T (p.Ala114Val)
 gnomAD v4
8g.96145191G>CCA371751957GDF6c.740C>G (p.Ala247Gly)
c.707-29C>G (n.707-29C>G)
c.341C>G (p.Ala114Gly)
8g.96145191G=CA1804262132GDF6c.740C= (p.Ala247=)
c.707-29C= (n.707-29C=)
c.341C= (p.Ala114=)
8g.96145191G>TCA371751958GDF6c.740C>A (p.Ala247Glu)
c.707-29C>A (n.707-29C>A)
c.341C>A (p.Ala114Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145192C>ACA371751959GDF6c.739G>T (p.Ala247Ser)
c.707-30G>T (n.707-30G>T)
c.340G>T (p.Ala114Ser)
 gnomAD v4
8g.96145192C>GCA371751960GDF6c.739G>C (p.Ala247Pro)
c.707-30G>C (n.707-30G>C)
c.340G>C (p.Ala114Pro)
8g.96145192C>TCA371751961GDF6c.739G>A (p.Ala247Thr)
c.707-30G>A (n.707-30G>A)
c.340G>A (p.Ala114Thr)
8g.96145193C>ACA371751962GDF6c.738G>T (p.Glu246Asp)
c.707-31G>T (n.707-31G>T)
c.339G>T (p.Glu113Asp)
 gnomAD v4
8g.96145193C>GCA371751963GDF6c.738G>C (p.Glu246Asp)
c.707-31G>C (n.707-31G>C)
c.339G>C (p.Glu113Asp)
8g.96145193C>TCA462454618GDF6c.738G>A (p.Glu246=)
c.707-31G>A (n.707-31G>A)
c.339G>A (p.Glu113=)
8g.96145194delCA2781376674GDF6c.737del (p.Glu246GlyfsTer?)
c.707-32del (n.707-32del)
c.338del (p.Glu113GlyfsTer?)
8g.96145194T>ACA371751964GDF6c.737A>T (p.Glu246Val)
c.707-32A>T (n.707-32A>T)
c.338A>T (p.Glu113Val)
 gnomAD v4
8g.96145194T>CCA371751965GDF6c.737A>G (p.Glu246Gly)
c.707-32A>G (n.707-32A>G)
c.338A>G (p.Glu113Gly)
 gnomAD v4
8g.96145194T>GCA371751966GDF6c.737A>C (p.Glu246Ala)
c.707-32A>C (n.707-32A>C)
c.338A>C (p.Glu113Ala)
8g.96145195C>ACA371751968GDF6c.736G>T (p.Glu246Ter)
c.706+30G>T (n.706+30G>T)
c.337G>T (p.Glu113Ter)
 gnomAD v4
8g.96145195C=CA1804262138GDF6c.736G= (p.Glu246=)
c.706+30G= (n.706+30G=)
c.337G= (p.Glu113=)
8g.96145195C>GCA371751969GDF6c.736G>C (p.Glu246Gln)
c.706+30G>C (n.706+30G>C)
c.337G>C (p.Glu113Gln)
 dbSNP
8g.96145195C>TCA371751967GDF6c.736G>A (p.Glu246Lys)
c.706+30G>A (n.706+30G>A)
c.337G>A (p.Glu113Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.96145196G>ACA462454619GDF6c.735C>T (p.Ala245=)
c.706+29C>T (n.706+29C>T)
c.336C>T (p.Ala112=)
 gnomAD v4
8g.96145196G>CCA462454621GDF6c.735C>G (p.Ala245=)
c.706+29C>G (n.706+29C>G)
c.336C>G (p.Ala112=)
 dbSNP
8g.96145196G=CA1804262147GDF6c.735C= (p.Ala245=)
c.706+29C= (n.706+29C=)
c.336C= (p.Ala112=)
8g.96145196G>TCA462454623GDF6c.735C>A (p.Ala245=)
c.706+29C>A (n.706+29C>A)
c.336C>A (p.Ala112=)
 gnomAD v4
8g.96145197G>ACA371751970GDF6c.734C>T (p.Ala245Val)
c.706+28C>T (n.706+28C>T)
c.335C>T (p.Ala112Val)
 gnomAD v4
8g.96145197G>CCA371751971GDF6c.734C>G (p.Ala245Gly)
c.706+28C>G (n.706+28C>G)
c.335C>G (p.Ala112Gly)
8g.96145197G>TCA371751972GDF6c.734C>A (p.Ala245Asp)
c.706+28C>A (n.706+28C>A)
c.335C>A (p.Ala112Asp)
 gnomAD v4
8g.96145198C>ACA371751973GDF6c.733G>T (p.Ala245Ser)
c.706+27G>T (n.706+27G>T)
c.334G>T (p.Ala112Ser)
 gnomAD v4
8g.96145198C=CA1804262156GDF6c.733G= (p.Ala245=)
c.706+27G= (n.706+27G=)
c.334G= (p.Ala112=)
8g.96145198C>GCA371751974GDF6c.733G>C (p.Ala245Pro)
c.706+27G>C (n.706+27G>C)
c.334G>C (p.Ala112Pro)
8g.96145198C>TCA4815420GDF6c.733G>A (p.Ala245Thr)
c.706+27G>A (n.706+27G>A)
c.334G>A (p.Ala112Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145199C>ACA371751975GDF6c.732G>T (p.Glu244Asp)
c.706+26G>T (n.706+26G>T)
c.333G>T (p.Glu111Asp)
 dbSNP gnomAD v4
8g.96145199C=CA1804262168GDF6c.732G= (p.Glu244=)
c.706+26G= (n.706+26G=)
c.333G= (p.Glu111=)
8g.96145199C>GCA371751976GDF6c.732G>C (p.Glu244Asp)
c.706+26G>C (n.706+26G>C)
c.333G>C (p.Glu111Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145199C>TCA462454628GDF6c.732G>A (p.Glu244=)
c.706+26G>A (n.706+26G>A)
c.333G>A (p.Glu111=)
8g.96145200T>ACA371751977GDF6c.731A>T (p.Glu244Val)
c.706+25A>T (n.706+25A>T)
c.332A>T (p.Glu111Val)
8g.96145200T>CCA371751978GDF6c.731A>G (p.Glu244Gly)
c.706+25A>G (n.706+25A>G)
c.332A>G (p.Glu111Gly)
 gnomAD v4
8g.96145200T>GCA371751979GDF6c.731A>C (p.Glu244Ala)
c.706+25A>C (n.706+25A>C)
c.332A>C (p.Glu111Ala)
 dbSNP
8g.96145200T=CA1804262174GDF6c.731A= (p.Glu244=)
c.706+25A= (n.706+25A=)
c.332A= (p.Glu111=)
8g.96145200_96145201delinsTCCA1804262173GDF6c.730_731delinsGA (p.Glu244=)
c.706+24_706+25delinsGA (n.706+24_706+25delinsGA)
c.331_332delinsGA (p.Glu111=)
8g.96145201C>ACA371751980GDF6c.730G>T (p.Glu244Ter)
c.706+24G>T (n.706+24G>T)
c.331G>T (p.Glu111Ter)
 gnomAD v4
8g.96145201C>GCA371751981GDF6c.730G>C (p.Glu244Gln)
c.706+24G>C (n.706+24G>C)
c.331G>C (p.Glu111Gln)
8g.96145201C>TCA371751982GDF6c.730G>A (p.Glu244Lys)
c.706+24G>A (n.706+24G>A)
c.331G>A (p.Glu111Lys)
 gnomAD v4
8g.96145204delCA583845619GDF6c.730del (p.Glu244ArgfsTer?)
c.706+24del (n.706+24del)
c.331del (p.Glu111ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.96145201_96145221dupCA1116878503GDF6c.710_730dup (p.Gly243_Glu244insGlyGlyGluLeuAspAlaGly)
c.706+4_706+24dup (n.706+4_706+24dup)
c.311_331dup (p.Gly110_Glu111insGlyGlyGluLeuAspAlaGly)
 dbSNP gnomAD v3 gnomAD v4
8g.96145202C>ACA462454639GDF6c.729G>T (p.Gly243=)
c.706+23G>T (n.706+23G>T)
c.330G>T (p.Gly110=)
 gnomAD v4
8g.96145202C=CA1804262184GDF6c.729G= (p.Gly243=)
c.706+23G= (n.706+23G=)
c.330G= (p.Gly110=)
8g.96145202C>GCA462454636GDF6c.729G>C (p.Gly243=)
c.706+23G>C (n.706+23G>C)
c.330G>C (p.Gly110=)
8g.96145202C>TCA4815421GDF6c.729G>A (p.Gly243=)
c.706+23G>A (n.706+23G>A)
c.330G>A (p.Gly110=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145203C>ACA181485039GDF6c.728G>T (p.Gly243Val)
c.706+22G>T (n.706+22G>T)
c.329G>T (p.Gly110Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145203C=CA1804262191GDF6c.728G= (p.Gly243=)
c.706+22G= (n.706+22G=)
c.329G= (p.Gly110=)
8g.96145203C>GCA371751983GDF6c.728G>C (p.Gly243Ala)
c.706+22G>C (n.706+22G>C)
c.329G>C (p.Gly110Ala)
8g.96145203C>TCA371751984GDF6c.728G>A (p.Gly243Glu)
c.706+22G>A (n.706+22G>A)
c.329G>A (p.Gly110Glu)
 gnomAD v4
8g.96145204C>ACA181485040GDF6c.727G>T (p.Gly243Trp)
c.706+21G>T (n.706+21G>T)
c.328G>T (p.Gly110Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145204C=CA1804262201GDF6c.727G= (p.Gly243=)
c.706+21G= (n.706+21G=)
c.328G= (p.Gly110=)
8g.96145204C>GCA371751985GDF6c.727G>C (p.Gly243Arg)
c.706+21G>C (n.706+21G>C)
c.328G>C (p.Gly110Arg)
 gnomAD v4
8g.96145204C>TCA371751986GDF6c.727G>A (p.Gly243Arg)
c.706+21G>A (n.706+21G>A)
c.328G>A (p.Gly110Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.96145205G>ACA181485041GDF6c.726C>T (p.Ala242=)
c.706+20C>T (n.706+20C>T)
c.327C>T (p.Ala109=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145205G>CCA462454645GDF6c.726C>G (p.Ala242=)
c.706+20C>G (n.706+20C>G)
c.327C>G (p.Ala109=)
8g.96145205G=CA1804262212GDF6c.726C= (p.Ala242=)
c.706+20C= (n.706+20C=)
c.327C= (p.Ala109=)
8g.96145205G>TCA462454646GDF6c.726C>A (p.Ala242=)
c.706+20C>A (n.706+20C>A)
c.327C>A (p.Ala109=)
 gnomAD v4
8g.96145206G>ACA371751988GDF6c.725C>T (p.Ala242Val)
c.706+19C>T (n.706+19C>T)
c.326C>T (p.Ala109Val)
 ClinVar
8g.96145206G>CCA10605452GDF6c.725C>G (p.Ala242Gly)
c.706+19C>G (n.706+19C>G)
c.326C>G (p.Ala109Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145206G=CA1804262220GDF6c.725C= (p.Ala242=)
c.706+19C= (n.706+19C=)
c.326C= (p.Ala109=)
8g.96145206G>TCA371751987GDF6c.725C>A (p.Ala242Asp)
c.706+19C>A (n.706+19C>A)
c.326C>A (p.Ala109Asp)
 gnomAD v4
8g.96145207_96145208delCA2687993838GDF6c.724_725del (p.Ala242ArgfsTer?)
c.706+18_706+19del (n.706+18_706+19del)
c.325_326del (p.Ala109ArgfsTer?)
 gnomAD v4
8g.96145207C>ACA371751989GDF6c.724G>T (p.Ala242Ser)
c.706+18G>T (n.706+18G>T)
c.325G>T (p.Ala109Ser)
 gnomAD v4
8g.96145207C=CA1804262231GDF6c.724G= (p.Ala242=)
c.706+18G= (n.706+18G=)
c.325G= (p.Ala109=)
8g.96145207C>GCA371751990GDF6c.724G>C (p.Ala242Pro)
c.706+18G>C (n.706+18G>C)
c.325G>C (p.Ala109Pro)
 ClinVar gnomAD v4
8g.96145207C>TCA4815422GDF6c.724G>A (p.Ala242Thr)
c.706+18G>A (n.706+18G>A)
c.325G>A (p.Ala109Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145208G>ACA462454648GDF6c.723C>T (p.Asp241=)
c.706+17C>T (n.706+17C>T)
c.324C>T (p.Asp108=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145208G>CCA371751991GDF6c.723C>G (p.Asp241Glu)
c.706+17C>G (n.706+17C>G)
c.324C>G (p.Asp108Glu)
8g.96145208G=CA1804262232GDF6c.723C= (p.Asp241=)
c.706+17C= (n.706+17C=)
c.324C= (p.Asp108=)
8g.96145208G>TCA371751992GDF6c.723C>A (p.Asp241Glu)
c.706+17C>A (n.706+17C>A)
c.324C>A (p.Asp108Glu)
 gnomAD v4
8g.96145209T>ACA371751995GDF6c.722A>T (p.Asp241Val)
c.706+16A>T (n.706+16A>T)
c.323A>T (p.Asp108Val)
8g.96145209T>CCA371751993GDF6c.722A>G (p.Asp241Gly)
c.706+16A>G (n.706+16A>G)
c.323A>G (p.Asp108Gly)
 gnomAD v4
8g.96145209T>GCA371751994GDF6c.722A>C (p.Asp241Ala)
c.706+16A>C (n.706+16A>C)
c.323A>C (p.Asp108Ala)
8g.96145210C>ACA371751996GDF6c.721G>T (p.Asp241Tyr)
c.706+15G>T (n.706+15G>T)
c.322G>T (p.Asp108Tyr)
 gnomAD v4
8g.96145210C>GCA371751997GDF6c.721G>C (p.Asp241His)
c.706+15G>C (n.706+15G>C)
c.322G>C (p.Asp108His)
 gnomAD v4
8g.96145210C>TCA371751998GDF6c.721G>A (p.Asp241Asn)
c.706+15G>A (n.706+15G>A)
c.322G>A (p.Asp108Asn)
8g.96145211C>ACA462454654GDF6c.720G>T (p.Leu240=)
c.706+14G>T (n.706+14G>T)
c.321G>T (p.Leu107=)
 gnomAD v4
8g.96145211C>GCA462454655GDF6c.720G>C (p.Leu240=)
c.706+14G>C (n.706+14G>C)
c.321G>C (p.Leu107=)
8g.96145211C>TCA462454656GDF6c.720G>A (p.Leu240=)
c.706+14G>A (n.706+14G>A)
c.321G>A (p.Leu107=)
 gnomAD v4
8g.96145212A=CA1804262240GDF6c.719T= (p.Leu240=)
c.706+13T= (n.706+13T=)
c.320T= (p.Leu107=)
8g.96145212A>CCA371751999GDF6c.719T>G (p.Leu240Arg)
c.706+13T>G (n.706+13T>G)
c.320T>G (p.Leu107Arg)
8g.96145212A>GCA181485042GDF6c.719T>C (p.Leu240Pro)
c.706+13T>C (n.706+13T>C)
c.320T>C (p.Leu107Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145212A>TCA371752000GDF6c.719T>A (p.Leu240Gln)
c.706+13T>A (n.706+13T>A)
c.320T>A (p.Leu107Gln)
 gnomAD v4
8g.96145213G>ACA462454767GDF6c.718C>T (p.Leu240=)
c.706+12C>T (n.706+12C>T)
c.319C>T (p.Leu107=)
 gnomAD v4
8g.96145213G>CCA371752001GDF6c.718C>G (p.Leu240Val)
c.706+12C>G (n.706+12C>G)
c.319C>G (p.Leu107Val)
 gnomAD v4
8g.96145213G>TCA371752002GDF6c.718C>A (p.Leu240Met)
c.706+12C>A (n.706+12C>A)
c.319C>A (p.Leu107Met)
8g.96145214C>ACA371752003GDF6c.717G>T (p.Glu239Asp)
c.706+11G>T (n.706+11G>T)
c.318G>T (p.Glu106Asp)
 gnomAD v4
8g.96145214C>GCA371752004GDF6c.717G>C (p.Glu239Asp)
c.706+11G>C (n.706+11G>C)
c.318G>C (p.Glu106Asp)
8g.96145214C>TCA462454775GDF6c.717G>A (p.Glu239=)
c.706+11G>A (n.706+11G>A)
c.318G>A (p.Glu106=)
8g.96145215T>ACA371752005GDF6c.716A>T (p.Glu239Val)
c.706+10A>T (n.706+10A>T)
c.317A>T (p.Glu106Val)
8g.96145215T>CCA181485043GDF6c.716A>G (p.Glu239Gly)
c.706+10A>G (n.706+10A>G)
c.317A>G (p.Glu106Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145215T>GCA371752006GDF6c.716A>C (p.Glu239Ala)
c.706+10A>C (n.706+10A>C)
c.317A>C (p.Glu106Ala)
8g.96145215T=CA1804262252GDF6c.716A= (p.Glu239=)
c.706+10A= (n.706+10A=)
c.317A= (p.Glu106=)
8g.96145216C>ACA371752007GDF6c.715G>T (p.Glu239Ter)
c.706+9G>T (n.706+9G>T)
c.316G>T (p.Glu106Ter)
8g.96145216C=CA1804262262GDF6c.715G= (p.Glu239=)
c.706+9G= (n.706+9G=)
c.316G= (p.Glu106=)
8g.96145216C>GCA371752009GDF6c.715G>C (p.Glu239Gln)
c.706+9G>C (n.706+9G>C)
c.316G>C (p.Glu106Gln)
8g.96145216C>TCA371752008GDF6c.715G>A (p.Glu239Lys)
c.706+9G>A (n.706+9G>A)
c.316G>A (p.Glu106Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145217G>ACA462454782GDF6c.714C>T (p.Gly238=)
c.706+8C>T (n.706+8C>T)
c.315C>T (p.Gly105=)
 gnomAD v4
8g.96145217G>CCA462454784GDF6c.714C>G (p.Gly238=)
c.706+8C>G (n.706+8C>G)
c.315C>G (p.Gly105=)
 dbSNP gnomAD v4
8g.96145217G=CA1804262275GDF6c.714C= (p.Gly238=)
c.706+8C= (n.706+8C=)
c.315C= (p.Gly105=)
8g.96145217G>TCA462454786GDF6c.714C>A (p.Gly238=)
c.706+8C>A (n.706+8C>A)
c.315C>A (p.Gly105=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145218C>ACA371752010GDF6c.713G>T (p.Gly238Val)
c.706+7G>T (n.706+7G>T)
c.314G>T (p.Gly105Val)
 gnomAD v4
8g.96145218C>GCA371752011GDF6c.713G>C (p.Gly238Ala)
c.706+7G>C (n.706+7G>C)
c.314G>C (p.Gly105Ala)
8g.96145218C>TCA371752012GDF6c.713G>A (p.Gly238Asp)
c.706+7G>A (n.706+7G>A)
c.314G>A (p.Gly105Asp)
 gnomAD v4
8g.96145219C>ACA371752013GDF6c.712G>T (p.Gly238Cys)
c.706+6G>T (n.706+6G>T)
c.313G>T (p.Gly105Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.96145219C=CA1804262285GDF6c.712G= (p.Gly238=)
c.706+6G= (n.706+6G=)
c.313G= (p.Gly105=)
8g.96145219C>GCA371752014GDF6c.712G>C (p.Gly238Arg)
c.706+6G>C (n.706+6G>C)
c.313G>C (p.Gly105Arg)
8g.96145219C>TCA371752015GDF6c.712G>A (p.Gly238Ser)
c.706+6G>A (n.706+6G>A)
c.313G>A (p.Gly105Ser)
8g.96145219_96145220insTGGCA2687993840GDF6c.711_712insCCA (p.Trp237_Gly238insPro)
c.706+5_706+6insCCA (n.706+5_706+6insCCA)
c.312_313insCCA (p.Trp104_Gly105insPro)
 gnomAD v4
8g.96145220C>ACA371752016GDF6c.711G>T (p.Trp237Cys)
c.706+5G>T (n.706+5G>T)
c.312G>T (p.Trp104Cys)
 gnomAD v4
8g.96145220C>GCA371752017GDF6c.711G>C (p.Trp237Cys)
c.706+5G>C (n.706+5G>C)
c.312G>C (p.Trp104Cys)
 gnomAD v4
8g.96145220C>TCA371752018GDF6c.711G>A (p.Trp237Ter)
c.706+5G>A (n.706+5G>A)
c.312G>A (p.Trp104Ter)
 gnomAD v4
8g.96145221C>ACA371752019GDF6c.710G>T (p.Trp237Leu)
c.706+4G>T (n.706+4G>T)
c.311G>T (p.Trp104Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.96145221C=CA1804262287GDF6c.710G= (p.Trp237=)
c.706+4G= (n.706+4G=)
c.311G= (p.Trp104=)
8g.96145221C>GCA371752020GDF6c.710G>C (p.Trp237Ser)
c.706+4G>C (n.706+4G>C)
c.311G>C (p.Trp104Ser)
8g.96145221C>TCA371752021GDF6c.710G>A (p.Trp237Ter)
c.706+4G>A (n.706+4G>A)
c.311G>A (p.Trp104Ter)
 gnomAD v4
8g.96145222A=CA1804262294GDF6c.709T= (p.Trp237=)
c.706+3T= (n.706+3T=)
c.310T= (p.Trp104=)
8g.96145222A>CCA181485044GDF6c.709T>G (p.Trp237Gly)
c.706+3T>G (n.706+3T>G)
c.310T>G (p.Trp104Gly)
 dbSNP gnomAD v4
8g.96145222A>GCA371752022GDF6c.709T>C (p.Trp237Arg)
c.706+3T>C (n.706+3T>C)
c.310T>C (p.Trp104Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145222A>TCA371752023GDF6c.709T>A (p.Trp237Arg)
c.706+3T>A (n.706+3T>A)
c.310T>A (p.Trp104Arg)
8g.96145223T>ACA371752024GDF6c.708A>T (p.Ala236=)
c.706+2A>T (n.706+2A>T)
c.309A>T (p.Ala103=)
8g.96145223T>CCA371752025GDF6c.708A>G (p.Ala236=)
c.706+2A>G (n.706+2A>G)
c.309A>G (p.Ala103=)
 gnomAD v4
8g.96145223T>GCA371752026GDF6c.708A>C (p.Ala236=)
c.706+2A>C (n.706+2A>C)
c.309A>C (p.Ala103=)
8g.96145224G>ACA4815423GDF6c.707C>T (p.Ala236Val)
c.706+1C>T (n.706+1C>T)
c.308C>T (p.Ala103Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145224G>CCA371752027GDF6c.707C>G (p.Ala236Gly)
c.706+1C>G (n.706+1C>G)
c.308C>G (p.Ala103Gly)
8g.96145224G=CA1804262299GDF6c.707C= (p.Ala236=)
c.706+1C= (n.706+1C=)
c.308C= (p.Ala103=)
8g.96145224G>TCA371752028GDF6c.707C>A (p.Ala236Glu)
c.706+1C>A (n.706+1C>A)
c.308C>A (p.Ala103Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.96145225C>ACA181485045GDF6c.706G>T (p.Ala236Ser)
c.307G>T (p.Ala103Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145225C=CA1804262302GDF6c.706G= (p.Ala236=)
c.307G= (p.Ala103=)
8g.96145225C>GCA371752029GDF6c.706G>C (p.Ala236Pro)
c.307G>C (p.Ala103Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.96145225C>TCA371752030GDF6c.706G>A (p.Ala236Thr)
c.307G>A (p.Ala103Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.96145226G>ACA462454802GDF6c.705C>T (p.Ala235=)
c.306C>T (p.Ala102=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145226G>CCA462454803GDF6c.705C>G (p.Ala235=)
c.306C>G (p.Ala102=)
8g.96145226G=CA1804262307GDF6c.705C= (p.Ala235=)
c.306C= (p.Ala102=)
8g.96145226G>TCA462454804GDF6c.705C>A (p.Ala235=)
c.306C>A (p.Ala102=)
 gnomAD v4
8g.96145227G>ACA371752031GDF6c.704C>T (p.Ala235Val)
c.305C>T (p.Ala102Val)
 gnomAD v4
8g.96145227G>CCA371752032GDF6c.704C>G (p.Ala235Gly)
c.305C>G (p.Ala102Gly)
8g.96145227G=CA1804262315GDF6c.704C= (p.Ala235=)
c.305C= (p.Ala102=)
8g.96145227G>TCA371752033GDF6c.704C>A (p.Ala235Asp)
c.305C>A (p.Ala102Asp)
 dbSNP gnomAD v4
8g.96145228C>ACA371752035GDF6c.703G>T (p.Ala235Ser)
c.304G>T (p.Ala102Ser)
 gnomAD v4 COSMIC
8g.96145228C=CA1804262324GDF6c.703G= (p.Ala235=)
c.304G= (p.Ala102=)
8g.96145228C>GCA371752036GDF6c.703G>C (p.Ala235Pro)
c.304G>C (p.Ala102Pro)
 gnomAD v4
8g.96145228C>TCA371752034GDF6c.703G>A (p.Ala235Thr)
c.304G>A (p.Ala102Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145229C>ACA462454811GDF6c.702G>T (p.Arg234=)
c.303G>T (p.Arg101=)
 gnomAD v4
8g.96145229C>GCA462454812GDF6c.702G>C (p.Arg234=)
c.303G>C (p.Arg101=)
 gnomAD v4
8g.96145229C>TCA462454814GDF6c.702G>A (p.Arg234=)
c.303G>A (p.Arg101=)
8g.96145230C>ACA4815424GDF6c.701G>T (p.Arg234Leu)
c.302G>T (p.Arg101Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145230C=CA1804262330GDF6c.701G= (p.Arg234=)
c.302G= (p.Arg101=)
8g.96145230C>GCA371752037GDF6c.701G>C (p.Arg234Pro)
c.302G>C (p.Arg101Pro)
8g.96145230C>TCA371752038GDF6c.701G>A (p.Arg234Gln)
c.302G>A (p.Arg101Gln)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.96145231G>ACA371752039GDF6c.700C>T (p.Arg234Trp)
c.301C>T (p.Arg101Trp)
 gnomAD v4
8g.96145231G>CCA371752040GDF6c.700C>G (p.Arg234Gly)
c.301C>G (p.Arg101Gly)
 gnomAD v4
8g.96145231G=CA1804262341GDF6c.700C= (p.Arg234=)
c.301C= (p.Arg101=)
8g.96145231G>TCA181485046GDF6c.700C>A (p.Arg234=)
c.301C>A (p.Arg101=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145232C>ACA462454820GDF6c.699G>T (p.Leu233=)
c.300G>T (p.Leu100=)
 gnomAD v4
8g.96145232C>GCA462454822GDF6c.699G>C (p.Leu233=)
c.300G>C (p.Leu100=)
 gnomAD v4
8g.96145232C>TCA462454824GDF6c.699G>A (p.Leu233=)
c.300G>A (p.Leu100=)
 gnomAD v4
8g.96145233A>CCA371752041GDF6c.698T>G (p.Leu233Arg)
c.299T>G (p.Leu100Arg)
8g.96145233A>GCA371752042GDF6c.698T>C (p.Leu233Pro)
c.299T>C (p.Leu100Pro)
 gnomAD v4
8g.96145233A>TCA371752043GDF6c.698T>A (p.Leu233Gln)
c.299T>A (p.Leu100Gln)
 gnomAD v4
8g.96145234G>ACA462454826GDF6c.697C>T (p.Leu233=)
c.298C>T (p.Leu100=)
 gnomAD v4
8g.96145234G>CCA371752044GDF6c.697C>G (p.Leu233Val)
c.298C>G (p.Leu100Val)
 gnomAD v4
8g.96145234G>TCA371752045GDF6c.697C>A (p.Leu233Met)
c.298C>A (p.Leu100Met)
 gnomAD v4
8g.96145235C>ACA371752046GDF6c.696G>T (p.Glu232Asp)
c.297G>T (p.Glu99Asp)
 gnomAD v4
8g.96145235C>GCA371752047GDF6c.696G>C (p.Glu232Asp)
c.297G>C (p.Glu99Asp)
8g.96145235C>TCA462454828GDF6c.696G>A (p.Glu232=)
c.297G>A (p.Glu99=)
 gnomAD v4
8g.96145236T>ACA371752048GDF6c.695A>T (p.Glu232Val)
c.296A>T (p.Glu99Val)
 gnomAD v4
8g.96145236T>CCA371752049GDF6c.695A>G (p.Glu232Gly)
c.296A>G (p.Glu99Gly)
 gnomAD v4
8g.96145236T>GCA371752050GDF6c.695A>C (p.Glu232Ala)
c.296A>C (p.Glu99Ala)
8g.96145237C>ACA371752051GDF6c.694G>T (p.Glu232Ter)
c.295G>T (p.Glu99Ter)
 gnomAD v4
8g.96145237C=CA1804262349GDF6c.694G= (p.Glu232=)
c.295G= (p.Glu99=)
8g.96145237C>GCA371752052GDF6c.694G>C (p.Glu232Gln)
c.295G>C (p.Glu99Gln)
8g.96145237C>TCA371752053GDF6c.694G>A (p.Glu232Lys)
c.295G>A (p.Glu99Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.96145238C>ACA371752055GDF6c.693G>T (p.Leu231Phe)
c.294G>T (p.Leu98Phe)
8g.96145238C>GCA371752054GDF6c.693G>C (p.Leu231Phe)
c.294G>C (p.Leu98Phe)
8g.96145238C>TCA462454835GDF6c.693G>A (p.Leu231=)
c.294G>A (p.Leu98=)
 gnomAD v4
8g.96145239A>CCA371752056GDF6c.692T>G (p.Leu231Trp)
c.293T>G (p.Leu98Trp)
8g.96145239A>GCA371752057GDF6c.692T>C (p.Leu231Ser)
c.293T>C (p.Leu98Ser)
 gnomAD v4
8g.96145239A>TCA371752058GDF6c.692T>A (p.Leu231Ter)
c.293T>A (p.Leu98Ter)
8g.96145240A>CCA371752059GDF6c.691T>G (p.Leu231Val)
c.292T>G (p.Leu98Val)
8g.96145240A>GCA462454844GDF6c.691T>C (p.Leu231=)
c.292T>C (p.Leu98=)
 gnomAD v4
8g.96145240A>TCA371752060GDF6c.691T>A (p.Leu231Met)
c.292T>A (p.Leu98Met)
8g.96145241G>ACA462454845GDF6c.690C>T (p.Cys230=)
c.291C>T (p.Cys97=)
8g.96145241G>CCA371752061GDF6c.690C>G (p.Cys230Trp)
c.291C>G (p.Cys97Trp)
8g.96145241G>TCA371752062GDF6c.690C>A (p.Cys230Ter)
c.291C>A (p.Cys97Ter)
 gnomAD v4
8g.96145242C>ACA371752063GDF6c.689G>T (p.Cys230Phe)
c.290G>T (p.Cys97Phe)
 gnomAD v4
8g.96145242C=CA1804262356GDF6c.689G= (p.Cys230=)
c.290G= (p.Cys97=)
8g.96145242C>GCA371752064GDF6c.689G>C (p.Cys230Ser)
c.290G>C (p.Cys97Ser)
8g.96145242C>TCA371752065GDF6c.689G>A (p.Cys230Tyr)
c.290G>A (p.Cys97Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.96145243A>CCA371752066GDF6c.688T>G (p.Cys230Gly)
c.289T>G (p.Cys97Gly)
8g.96145243A>GCA371752067GDF6c.688T>C (p.Cys230Arg)
c.289T>C (p.Cys97Arg)
 gnomAD v4
8g.96145243A>TCA371752068GDF6c.688T>A (p.Cys230Ser)
c.289T>A (p.Cys97Ser)
8g.96145244C>ACA462454852GDF6c.687G>T (p.Leu229=)
c.288G>T (p.Leu96=)
8g.96145244C>GCA462454853GDF6c.687G>C (p.Leu229=)
c.288G>C (p.Leu96=)
8g.96145244C>TCA462454854GDF6c.687G>A (p.Leu229=)
c.288G>A (p.Leu96=)
 gnomAD v4
8g.96145245A>CCA371752071GDF6c.686T>G (p.Leu229Arg)
c.287T>G (p.Leu96Arg)
8g.96145245A>GCA371752070GDF6c.686T>C (p.Leu229Pro)
c.287T>C (p.Leu96Pro)
 gnomAD v4
8g.96145245A>TCA371752069GDF6c.686T>A (p.Leu229Gln)
c.287T>A (p.Leu96Gln)
 gnomAD v4
8g.96145246G>ACA462454857GDF6c.685C>T (p.Leu229=)
c.286C>T (p.Leu96=)
 dbSNP gnomAD v4
8g.96145246G>CCA371752073GDF6c.685C>G (p.Leu229Val)
c.286C>G (p.Leu96Val)
8g.96145246G=CA1804262359GDF6c.685C= (p.Leu229=)
c.286C= (p.Leu96=)
8g.96145246G>TCA371752072GDF6c.685C>A (p.Leu229Met)
c.286C>A (p.Leu96Met)
 dbSNP gnomAD v4

Number of alleles fetched