Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688737C>ACA346749898GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G>T (p.Glu354Ter)
c.948-598G>T (n.948-598G>T)
c.3441+17057C>A (n.3441+17057C>A)
c.948-154G>T (n.948-154G>T)
c.979G>T (p.Glu327Ter)
c.276+17057C>A (n.276+17057C>A)
c.*220+5487G>T (n.*220+5487G>T)
c.103G>T (p.Glu35Ter)
c.130G>T (p.Glu44Ter)
c.985G>T (p.Glu329Ter)
c.799G>T (p.Glu267Ter)
c.718G>T (p.Glu240Ter)
c.424G>T (p.Glu142Ter)
c.805G>T (p.Glu269Ter)
2g.48688737C=CA1248601250GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G= (p.Glu354=)
c.948-598G= (n.948-598G=)
c.3441+17057C= (n.3441+17057C=)
c.948-154G= (n.948-154G=)
c.979G= (p.Glu327=)
c.276+17057C= (n.276+17057C=)
c.*220+5487G= (n.*220+5487G=)
c.103G= (p.Glu35=)
c.130G= (p.Glu44=)
c.985G= (p.Glu329=)
c.799G= (p.Glu267=)
c.718G= (p.Glu240=)
c.424G= (p.Glu142=)
c.805G= (p.Glu269=)
2g.48688737C>GCA346749899GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G>C (p.Glu354Gln)
c.948-598G>C (n.948-598G>C)
c.3441+17057C>G (n.3441+17057C>G)
c.948-154G>C (n.948-154G>C)
c.979G>C (p.Glu327Gln)
c.276+17057C>G (n.276+17057C>G)
c.*220+5487G>C (n.*220+5487G>C)
c.103G>C (p.Glu35Gln)
c.130G>C (p.Glu44Gln)
c.985G>C (p.Glu329Gln)
c.799G>C (p.Glu267Gln)
c.718G>C (p.Glu240Gln)
c.424G>C (p.Glu142Gln)
c.805G>C (p.Glu269Gln)
2g.48688737C>TCA123927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1060G>A (p.Glu354Lys)
c.948-598G>A (n.948-598G>A)
c.3441+17057C>T (n.3441+17057C>T)
c.948-154G>A (n.948-154G>A)
c.979G>A (p.Glu327Lys)
c.276+17057C>T (n.276+17057C>T)
c.*220+5487G>A (n.*220+5487G>A)
c.103G>A (p.Glu35Lys)
c.130G>A (p.Glu44Lys)
c.985G>A (p.Glu329Lys)
c.799G>A (p.Glu267Lys)
c.718G>A (p.Glu240Lys)
c.424G>A (p.Glu142Lys)
c.805G>A (p.Glu269Lys)
ClinVar dbSNP gnomAD v4 COSMIC
2g.48688738A>CCA346749902GTF2A1L,LHCGR,STON1-GTF2A1Lc.1059T>G (p.Cys353Trp)
c.948-599T>G (n.948-599T>G)
c.3441+17058A>C (n.3441+17058A>C)
c.948-155T>G (n.948-155T>G)
c.978T>G (p.Cys326Trp)
c.276+17058A>C (n.276+17058A>C)
c.*220+5486T>G (n.*220+5486T>G)
c.102T>G (p.Cys34Trp)
c.129T>G (p.Cys43Trp)
c.984T>G (p.Cys328Trp)
c.798T>G (p.Cys266Trp)
c.717T>G (p.Cys239Trp)
c.423T>G (p.Cys141Trp)
c.804T>G (p.Cys268Trp)
2g.48688738A>GCA426124774GTF2A1L,LHCGR,STON1-GTF2A1Lc.1059T>C (p.Cys353=)
c.948-599T>C (n.948-599T>C)
c.3441+17058A>G (n.3441+17058A>G)
c.948-155T>C (n.948-155T>C)
c.978T>C (p.Cys326=)
c.276+17058A>G (n.276+17058A>G)
c.*220+5486T>C (n.*220+5486T>C)
c.102T>C (p.Cys34=)
c.129T>C (p.Cys43=)
c.984T>C (p.Cys328=)
c.798T>C (p.Cys266=)
c.717T>C (p.Cys239=)
c.423T>C (p.Cys141=)
c.804T>C (p.Cys268=)
gnomAD v4
2g.48688738A>TCA346749900GTF2A1L,LHCGR,STON1-GTF2A1Lc.1059T>A (p.Cys353Ter)
c.948-599T>A (n.948-599T>A)
c.3441+17058A>T (n.3441+17058A>T)
c.948-155T>A (n.948-155T>A)
c.978T>A (p.Cys326Ter)
c.276+17058A>T (n.276+17058A>T)
c.*220+5486T>A (n.*220+5486T>A)
c.102T>A (p.Cys34Ter)
c.129T>A (p.Cys43Ter)
c.984T>A (p.Cys328Ter)
c.798T>A (p.Cys266Ter)
c.717T>A (p.Cys239Ter)
c.423T>A (p.Cys141Ter)
c.804T>A (p.Cys268Ter)
2g.48688739C>ACA346749904GTF2A1L,LHCGR,STON1-GTF2A1Lc.1058G>T (p.Cys353Phe)
c.948-600G>T (n.948-600G>T)
c.3441+17059C>A (n.3441+17059C>A)
c.948-156G>T (n.948-156G>T)
c.977G>T (p.Cys326Phe)
c.276+17059C>A (n.276+17059C>A)
c.*220+5485G>T (n.*220+5485G>T)
c.101G>T (p.Cys34Phe)
c.128G>T (p.Cys43Phe)
c.983G>T (p.Cys328Phe)
c.797G>T (p.Cys266Phe)
c.716G>T (p.Cys239Phe)
c.422G>T (p.Cys141Phe)
c.803G>T (p.Cys268Phe)
2g.48688739C>GCA346749906GTF2A1L,LHCGR,STON1-GTF2A1Lc.1058G>C (p.Cys353Ser)
c.948-600G>C (n.948-600G>C)
c.3441+17059C>G (n.3441+17059C>G)
c.948-156G>C (n.948-156G>C)
c.977G>C (p.Cys326Ser)
c.276+17059C>G (n.276+17059C>G)
c.*220+5485G>C (n.*220+5485G>C)
c.101G>C (p.Cys34Ser)
c.128G>C (p.Cys43Ser)
c.983G>C (p.Cys328Ser)
c.797G>C (p.Cys266Ser)
c.716G>C (p.Cys239Ser)
c.422G>C (p.Cys141Ser)
c.803G>C (p.Cys268Ser)
gnomAD v4
2g.48688739C>TCA346749909GTF2A1L,LHCGR,STON1-GTF2A1Lc.1058G>A (p.Cys353Tyr)
c.948-600G>A (n.948-600G>A)
c.3441+17059C>T (n.3441+17059C>T)
c.948-156G>A (n.948-156G>A)
c.977G>A (p.Cys326Tyr)
c.276+17059C>T (n.276+17059C>T)
c.*220+5485G>A (n.*220+5485G>A)
c.101G>A (p.Cys34Tyr)
c.128G>A (p.Cys43Tyr)
c.983G>A (p.Cys328Tyr)
c.797G>A (p.Cys266Tyr)
c.716G>A (p.Cys239Tyr)
c.422G>A (p.Cys141Tyr)
c.803G>A (p.Cys268Tyr)
2g.48688740A=CA1248601251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T= (p.Cys353=)
c.948-601T= (n.948-601T=)
c.3441+17060A= (n.3441+17060A=)
c.948-157T= (n.948-157T=)
c.976T= (p.Cys326=)
c.276+17060A= (n.276+17060A=)
c.*220+5484T= (n.*220+5484T=)
c.100T= (p.Cys34=)
c.127T= (p.Cys43=)
c.982T= (p.Cys328=)
c.796T= (p.Cys266=)
c.715T= (p.Cys239=)
c.421T= (p.Cys141=)
c.802T= (p.Cys268=)
2g.48688740A>CCA346749910GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T>G (p.Cys353Gly)
c.948-601T>G (n.948-601T>G)
c.3441+17060A>C (n.3441+17060A>C)
c.948-157T>G (n.948-157T>G)
c.976T>G (p.Cys326Gly)
c.276+17060A>C (n.276+17060A>C)
c.*220+5484T>G (n.*220+5484T>G)
c.100T>G (p.Cys34Gly)
c.127T>G (p.Cys43Gly)
c.982T>G (p.Cys328Gly)
c.796T>G (p.Cys266Gly)
c.715T>G (p.Cys239Gly)
c.421T>G (p.Cys141Gly)
c.802T>G (p.Cys268Gly)
2g.48688740A>GCA346749914GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T>C (p.Cys353Arg)
c.948-601T>C (n.948-601T>C)
c.3441+17060A>G (n.3441+17060A>G)
c.948-157T>C (n.948-157T>C)
c.976T>C (p.Cys326Arg)
c.276+17060A>G (n.276+17060A>G)
c.*220+5484T>C (n.*220+5484T>C)
c.100T>C (p.Cys34Arg)
c.127T>C (p.Cys43Arg)
c.982T>C (p.Cys328Arg)
c.796T>C (p.Cys266Arg)
c.715T>C (p.Cys239Arg)
c.421T>C (p.Cys141Arg)
c.802T>C (p.Cys268Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.48688740A>TCA346749917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1057T>A (p.Cys353Ser)
c.948-601T>A (n.948-601T>A)
c.3441+17060A>T (n.3441+17060A>T)
c.948-157T>A (n.948-157T>A)
c.976T>A (p.Cys326Ser)
c.276+17060A>T (n.276+17060A>T)
c.*220+5484T>A (n.*220+5484T>A)
c.100T>A (p.Cys34Ser)
c.127T>A (p.Cys43Ser)
c.982T>A (p.Cys328Ser)
c.796T>A (p.Cys266Ser)
c.715T>A (p.Cys239Ser)
c.421T>A (p.Cys141Ser)
c.802T>A (p.Cys268Ser)
2g.48688741G>ACA426124780GTF2A1L,LHCGR,STON1-GTF2A1Lc.1056C>T (p.Pro352=)
c.948-602C>T (n.948-602C>T)
c.3441+17061G>A (n.3441+17061G>A)
c.948-158C>T (n.948-158C>T)
c.975C>T (p.Pro325=)
c.276+17061G>A (n.276+17061G>A)
c.*220+5483C>T (n.*220+5483C>T)
c.99C>T (p.Pro33=)
c.126C>T (p.Pro42=)
c.981C>T (p.Pro327=)
c.795C>T (p.Pro265=)
c.714C>T (p.Pro238=)
c.420C>T (p.Pro140=)
c.801C>T (p.Pro267=)
2g.48688741G>CCA426124779GTF2A1L,LHCGR,STON1-GTF2A1Lc.1056C>G (p.Pro352=)
c.948-602C>G (n.948-602C>G)
c.3441+17061G>C (n.3441+17061G>C)
c.948-158C>G (n.948-158C>G)
c.975C>G (p.Pro325=)
c.276+17061G>C (n.276+17061G>C)
c.*220+5483C>G (n.*220+5483C>G)
c.99C>G (p.Pro33=)
c.126C>G (p.Pro42=)
c.981C>G (p.Pro327=)
c.795C>G (p.Pro265=)
c.714C>G (p.Pro238=)
c.420C>G (p.Pro140=)
c.801C>G (p.Pro267=)
2g.48688741G>TCA426124778GTF2A1L,LHCGR,STON1-GTF2A1Lc.1056C>A (p.Pro352=)
c.948-602C>A (n.948-602C>A)
c.3441+17061G>T (n.3441+17061G>T)
c.948-158C>A (n.948-158C>A)
c.975C>A (p.Pro325=)
c.276+17061G>T (n.276+17061G>T)
c.*220+5483C>A (n.*220+5483C>A)
c.99C>A (p.Pro33=)
c.126C>A (p.Pro42=)
c.981C>A (p.Pro327=)
c.795C>A (p.Pro265=)
c.714C>A (p.Pro238=)
c.420C>A (p.Pro140=)
c.801C>A (p.Pro267=)
2g.48688742G>ACA346749919GTF2A1L,LHCGR,STON1-GTF2A1Lc.1055C>T (p.Pro352Leu)
c.948-603C>T (n.948-603C>T)
c.3441+17062G>A (n.3441+17062G>A)
c.948-159C>T (n.948-159C>T)
c.974C>T (p.Pro325Leu)
c.276+17062G>A (n.276+17062G>A)
c.*220+5482C>T (n.*220+5482C>T)
c.98C>T (p.Pro33Leu)
c.125C>T (p.Pro42Leu)
c.980C>T (p.Pro327Leu)
c.794C>T (p.Pro265Leu)
c.713C>T (p.Pro238Leu)
c.419C>T (p.Pro140Leu)
c.800C>T (p.Pro267Leu)
2g.48688742G>CCA346749926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1055C>G (p.Pro352Arg)
c.948-603C>G (n.948-603C>G)
c.3441+17062G>C (n.3441+17062G>C)
c.948-159C>G (n.948-159C>G)
c.974C>G (p.Pro325Arg)
c.276+17062G>C (n.276+17062G>C)
c.*220+5482C>G (n.*220+5482C>G)
c.98C>G (p.Pro33Arg)
c.125C>G (p.Pro42Arg)
c.980C>G (p.Pro327Arg)
c.794C>G (p.Pro265Arg)
c.713C>G (p.Pro238Arg)
c.419C>G (p.Pro140Arg)
c.800C>G (p.Pro267Arg)
2g.48688742G>TCA346749923GTF2A1L,LHCGR,STON1-GTF2A1Lc.1055C>A (p.Pro352His)
c.948-603C>A (n.948-603C>A)
c.3441+17062G>T (n.3441+17062G>T)
c.948-159C>A (n.948-159C>A)
c.974C>A (p.Pro325His)
c.276+17062G>T (n.276+17062G>T)
c.*220+5482C>A (n.*220+5482C>A)
c.98C>A (p.Pro33His)
c.125C>A (p.Pro42His)
c.980C>A (p.Pro327His)
c.794C>A (p.Pro265His)
c.713C>A (p.Pro238His)
c.419C>A (p.Pro140His)
c.800C>A (p.Pro267His)
2g.48688743G>ACA46753340GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C>T (p.Pro352Ser)
c.948-604C>T (n.948-604C>T)
c.3441+17063G>A (n.3441+17063G>A)
c.948-160C>T (n.948-160C>T)
c.973C>T (p.Pro325Ser)
c.276+17063G>A (n.276+17063G>A)
c.*220+5481C>T (n.*220+5481C>T)
c.97C>T (p.Pro33Ser)
c.124C>T (p.Pro42Ser)
c.979C>T (p.Pro327Ser)
c.793C>T (p.Pro265Ser)
c.712C>T (p.Pro238Ser)
c.418C>T (p.Pro140Ser)
c.799C>T (p.Pro267Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688743G>CCA346749927GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C>G (p.Pro352Ala)
c.948-604C>G (n.948-604C>G)
c.3441+17063G>C (n.3441+17063G>C)
c.948-160C>G (n.948-160C>G)
c.973C>G (p.Pro325Ala)
c.276+17063G>C (n.276+17063G>C)
c.*220+5481C>G (n.*220+5481C>G)
c.97C>G (p.Pro33Ala)
c.124C>G (p.Pro42Ala)
c.979C>G (p.Pro327Ala)
c.793C>G (p.Pro265Ala)
c.712C>G (p.Pro238Ala)
c.418C>G (p.Pro140Ala)
c.799C>G (p.Pro267Ala)
2g.48688743G=CA1248601252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C= (p.Pro352=)
c.948-604C= (n.948-604C=)
c.3441+17063G= (n.3441+17063G=)
c.948-160C= (n.948-160C=)
c.973C= (p.Pro325=)
c.276+17063G= (n.276+17063G=)
c.*220+5481C= (n.*220+5481C=)
c.97C= (p.Pro33=)
c.124C= (p.Pro42=)
c.979C= (p.Pro327=)
c.793C= (p.Pro265=)
c.712C= (p.Pro238=)
c.418C= (p.Pro140=)
c.799C= (p.Pro267=)
2g.48688743G>TCA346749931GTF2A1L,LHCGR,STON1-GTF2A1Lc.1054C>A (p.Pro352Thr)
c.948-604C>A (n.948-604C>A)
c.3441+17063G>T (n.3441+17063G>T)
c.948-160C>A (n.948-160C>A)
c.973C>A (p.Pro325Thr)
c.276+17063G>T (n.276+17063G>T)
c.*220+5481C>A (n.*220+5481C>A)
c.97C>A (p.Pro33Thr)
c.124C>A (p.Pro42Thr)
c.979C>A (p.Pro327Thr)
c.793C>A (p.Pro265Thr)
c.712C>A (p.Pro238Thr)
c.418C>A (p.Pro140Thr)
c.799C>A (p.Pro267Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688744A=CA1248601253GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T= (p.Asn351=)
c.948-605T= (n.948-605T=)
c.3441+17064A= (n.3441+17064A=)
c.948-161T= (n.948-161T=)
c.972T= (p.Asn324=)
c.276+17064A= (n.276+17064A=)
c.*220+5480T= (n.*220+5480T=)
c.96T= (p.Asn32=)
c.123T= (p.Asn41=)
c.978T= (p.Asn326=)
c.792T= (p.Asn264=)
c.711T= (p.Asn237=)
c.417T= (p.Asn139=)
c.798T= (p.Asn266=)
2g.48688744A>CCA346749933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T>G (p.Asn351Lys)
c.948-605T>G (n.948-605T>G)
c.3441+17064A>C (n.3441+17064A>C)
c.948-161T>G (n.948-161T>G)
c.972T>G (p.Asn324Lys)
c.276+17064A>C (n.276+17064A>C)
c.*220+5480T>G (n.*220+5480T>G)
c.96T>G (p.Asn32Lys)
c.123T>G (p.Asn41Lys)
c.978T>G (p.Asn326Lys)
c.792T>G (p.Asn264Lys)
c.711T>G (p.Asn237Lys)
c.417T>G (p.Asn139Lys)
c.798T>G (p.Asn266Lys)
2g.48688744A>GCA426124782GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T>C (p.Asn351=)
c.948-605T>C (n.948-605T>C)
c.3441+17064A>G (n.3441+17064A>G)
c.948-161T>C (n.948-161T>C)
c.972T>C (p.Asn324=)
c.276+17064A>G (n.276+17064A>G)
c.*220+5480T>C (n.*220+5480T>C)
c.96T>C (p.Asn32=)
c.123T>C (p.Asn41=)
c.978T>C (p.Asn326=)
c.792T>C (p.Asn264=)
c.711T>C (p.Asn237=)
c.417T>C (p.Asn139=)
c.798T>C (p.Asn266=)
2g.48688744A>TCA1653087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1053T>A (p.Asn351Lys)
c.948-605T>A (n.948-605T>A)
c.3441+17064A>T (n.3441+17064A>T)
c.948-161T>A (n.948-161T>A)
c.972T>A (p.Asn324Lys)
c.276+17064A>T (n.276+17064A>T)
c.*220+5480T>A (n.*220+5480T>A)
c.96T>A (p.Asn32Lys)
c.123T>A (p.Asn41Lys)
c.978T>A (p.Asn326Lys)
c.792T>A (p.Asn264Lys)
c.711T>A (p.Asn237Lys)
c.417T>A (p.Asn139Lys)
c.798T>A (p.Asn266Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688745T>ACA346749938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A>T (p.Asn351Ile)
c.948-606A>T (n.948-606A>T)
c.3441+17065T>A (n.3441+17065T>A)
c.948-162A>T (n.948-162A>T)
c.971A>T (p.Asn324Ile)
c.276+17065T>A (n.276+17065T>A)
c.*220+5479A>T (n.*220+5479A>T)
c.95A>T (p.Asn32Ile)
c.122A>T (p.Asn41Ile)
c.977A>T (p.Asn326Ile)
c.791A>T (p.Asn264Ile)
c.710A>T (p.Asn237Ile)
c.416A>T (p.Asn139Ile)
c.797A>T (p.Asn266Ile)
2g.48688745T>CCA346749939GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A>G (p.Asn351Ser)
c.948-606A>G (n.948-606A>G)
c.3441+17065T>C (n.3441+17065T>C)
c.948-162A>G (n.948-162A>G)
c.971A>G (p.Asn324Ser)
c.276+17065T>C (n.276+17065T>C)
c.*220+5479A>G (n.*220+5479A>G)
c.95A>G (p.Asn32Ser)
c.122A>G (p.Asn41Ser)
c.977A>G (p.Asn326Ser)
c.791A>G (p.Asn264Ser)
c.710A>G (p.Asn237Ser)
c.416A>G (p.Asn139Ser)
c.797A>G (p.Asn266Ser)
2g.48688745T>GCA1653088GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A>C (p.Asn351Thr)
c.948-606A>C (n.948-606A>C)
c.3441+17065T>G (n.3441+17065T>G)
c.948-162A>C (n.948-162A>C)
c.971A>C (p.Asn324Thr)
c.276+17065T>G (n.276+17065T>G)
c.*220+5479A>C (n.*220+5479A>C)
c.95A>C (p.Asn32Thr)
c.122A>C (p.Asn41Thr)
c.977A>C (p.Asn326Thr)
c.791A>C (p.Asn264Thr)
c.710A>C (p.Asn237Thr)
c.416A>C (p.Asn139Thr)
c.797A>C (p.Asn266Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688745T=CA1248601254GTF2A1L,LHCGR,STON1-GTF2A1Lc.1052A= (p.Asn351=)
c.948-606A= (n.948-606A=)
c.3441+17065T= (n.3441+17065T=)
c.948-162A= (n.948-162A=)
c.971A= (p.Asn324=)
c.276+17065T= (n.276+17065T=)
c.*220+5479A= (n.*220+5479A=)
c.95A= (p.Asn32=)
c.122A= (p.Asn41=)
c.977A= (p.Asn326=)
c.791A= (p.Asn264=)
c.710A= (p.Asn237=)
c.416A= (p.Asn139=)
c.797A= (p.Asn266=)
2g.48688746T>ACA346749943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1051A>T (p.Asn351Tyr)
c.948-607A>T (n.948-607A>T)
c.3441+17066T>A (n.3441+17066T>A)
c.948-163A>T (n.948-163A>T)
c.970A>T (p.Asn324Tyr)
c.276+17066T>A (n.276+17066T>A)
c.*220+5478A>T (n.*220+5478A>T)
c.94A>T (p.Asn32Tyr)
c.121A>T (p.Asn41Tyr)
c.976A>T (p.Asn326Tyr)
c.790A>T (p.Asn264Tyr)
c.709A>T (p.Asn237Tyr)
c.415A>T (p.Asn139Tyr)
c.796A>T (p.Asn266Tyr)
2g.48688746T>CCA346749944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1051A>G (p.Asn351Asp)
c.948-607A>G (n.948-607A>G)
c.3441+17066T>C (n.3441+17066T>C)
c.948-163A>G (n.948-163A>G)
c.970A>G (p.Asn324Asp)
c.276+17066T>C (n.276+17066T>C)
c.*220+5478A>G (n.*220+5478A>G)
c.94A>G (p.Asn32Asp)
c.121A>G (p.Asn41Asp)
c.976A>G (p.Asn326Asp)
c.790A>G (p.Asn264Asp)
c.709A>G (p.Asn237Asp)
c.415A>G (p.Asn139Asp)
c.796A>G (p.Asn266Asp)
2g.48688746T>GCA346749945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1051A>C (p.Asn351His)
c.948-607A>C (n.948-607A>C)
c.3441+17066T>G (n.3441+17066T>G)
c.948-163A>C (n.948-163A>C)
c.970A>C (p.Asn324His)
c.276+17066T>G (n.276+17066T>G)
c.*220+5478A>C (n.*220+5478A>C)
c.94A>C (p.Asn32His)
c.121A>C (p.Asn41His)
c.976A>C (p.Asn326His)
c.790A>C (p.Asn264His)
c.709A>C (p.Asn237His)
c.415A>C (p.Asn139His)
c.796A>C (p.Asn266His)
2g.48688747A>CCA346749948GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050T>G (p.Phe350Leu)
c.948-608T>G (n.948-608T>G)
c.3441+17067A>C (n.3441+17067A>C)
c.948-164T>G (n.948-164T>G)
c.969T>G (p.Phe323Leu)
c.276+17067A>C (n.276+17067A>C)
c.*220+5477T>G (n.*220+5477T>G)
c.93T>G (p.Phe31Leu)
c.120T>G (p.Phe40Leu)
c.975T>G (p.Phe325Leu)
c.789T>G (p.Phe263Leu)
c.708T>G (p.Phe236Leu)
c.414T>G (p.Phe138Leu)
c.795T>G (p.Phe265Leu)
2g.48688747A>GCA426124783GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050T>C (p.Phe350=)
c.948-608T>C (n.948-608T>C)
c.3441+17067A>G (n.3441+17067A>G)
c.948-164T>C (n.948-164T>C)
c.969T>C (p.Phe323=)
c.276+17067A>G (n.276+17067A>G)
c.*220+5477T>C (n.*220+5477T>C)
c.93T>C (p.Phe31=)
c.120T>C (p.Phe40=)
c.975T>C (p.Phe325=)
c.789T>C (p.Phe263=)
c.708T>C (p.Phe236=)
c.414T>C (p.Phe138=)
c.795T>C (p.Phe265=)
2g.48688747A>TCA346749946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050T>A (p.Phe350Leu)
c.948-608T>A (n.948-608T>A)
c.3441+17067A>T (n.3441+17067A>T)
c.948-164T>A (n.948-164T>A)
c.969T>A (p.Phe323Leu)
c.276+17067A>T (n.276+17067A>T)
c.*220+5477T>A (n.*220+5477T>A)
c.93T>A (p.Phe31Leu)
c.120T>A (p.Phe40Leu)
c.975T>A (p.Phe325Leu)
c.789T>A (p.Phe263Leu)
c.708T>A (p.Phe236Leu)
c.414T>A (p.Phe138Leu)
c.795T>A (p.Phe265Leu)
2g.48688750delCA2658992089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1050del (p.Phe350LeufsTer16)
c.948-608del (n.948-608del)
c.3441+17070del (n.3441+17070del)
c.948-164del (n.948-164del)
c.969del (p.Phe323LeufsTer16)
c.276+17070del (n.276+17070del)
c.*220+5477del (n.*220+5477del)
c.93del (p.Phe31LeufsTer16)
c.120del (p.Phe40LeufsTer16)
c.975del (p.Phe325LeufsTer16)
c.789del (p.Phe263LeufsTer16)
c.708del (p.Phe236LeufsTer16)
c.414del (p.Phe138LeufsTer16)
c.795del (p.Phe265LeufsTer16)
gnomAD v4
2g.48688748A>CCA346749952GTF2A1L,LHCGR,STON1-GTF2A1Lc.1049T>G (p.Phe350Cys)
c.948-609T>G (n.948-609T>G)
c.3441+17068A>C (n.3441+17068A>C)
c.948-165T>G (n.948-165T>G)
c.968T>G (p.Phe323Cys)
c.276+17068A>C (n.276+17068A>C)
c.*220+5476T>G (n.*220+5476T>G)
c.92T>G (p.Phe31Cys)
c.119T>G (p.Phe40Cys)
c.974T>G (p.Phe325Cys)
c.788T>G (p.Phe263Cys)
c.707T>G (p.Phe236Cys)
c.413T>G (p.Phe138Cys)
c.794T>G (p.Phe265Cys)
2g.48688748A>GCA346749963GTF2A1L,LHCGR,STON1-GTF2A1Lc.1049T>C (p.Phe350Ser)
c.948-609T>C (n.948-609T>C)
c.3441+17068A>G (n.3441+17068A>G)
c.948-165T>C (n.948-165T>C)
c.968T>C (p.Phe323Ser)
c.276+17068A>G (n.276+17068A>G)
c.*220+5476T>C (n.*220+5476T>C)
c.92T>C (p.Phe31Ser)
c.119T>C (p.Phe40Ser)
c.974T>C (p.Phe325Ser)
c.788T>C (p.Phe263Ser)
c.707T>C (p.Phe236Ser)
c.413T>C (p.Phe138Ser)
c.794T>C (p.Phe265Ser)
2g.48688748A>TCA346749970GTF2A1L,LHCGR,STON1-GTF2A1Lc.1049T>A (p.Phe350Tyr)
c.948-609T>A (n.948-609T>A)
c.3441+17068A>T (n.3441+17068A>T)
c.948-165T>A (n.948-165T>A)
c.968T>A (p.Phe323Tyr)
c.276+17068A>T (n.276+17068A>T)
c.*220+5476T>A (n.*220+5476T>A)
c.92T>A (p.Phe31Tyr)
c.119T>A (p.Phe40Tyr)
c.974T>A (p.Phe325Tyr)
c.788T>A (p.Phe263Tyr)
c.707T>A (p.Phe236Tyr)
c.413T>A (p.Phe138Tyr)
c.794T>A (p.Phe265Tyr)
2g.48688749A>CCA346749972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1048T>G (p.Phe350Val)
c.948-610T>G (n.948-610T>G)
c.3441+17069A>C (n.3441+17069A>C)
c.948-166T>G (n.948-166T>G)
c.967T>G (p.Phe323Val)
c.276+17069A>C (n.276+17069A>C)
c.*220+5475T>G (n.*220+5475T>G)
c.91T>G (p.Phe31Val)
c.118T>G (p.Phe40Val)
c.973T>G (p.Phe325Val)
c.787T>G (p.Phe263Val)
c.706T>G (p.Phe236Val)
c.412T>G (p.Phe138Val)
c.793T>G (p.Phe265Val)
2g.48688749A>GCA346749975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1048T>C (p.Phe350Leu)
c.948-610T>C (n.948-610T>C)
c.3441+17069A>G (n.3441+17069A>G)
c.948-166T>C (n.948-166T>C)
c.967T>C (p.Phe323Leu)
c.276+17069A>G (n.276+17069A>G)
c.*220+5475T>C (n.*220+5475T>C)
c.91T>C (p.Phe31Leu)
c.118T>C (p.Phe40Leu)
c.973T>C (p.Phe325Leu)
c.787T>C (p.Phe263Leu)
c.706T>C (p.Phe236Leu)
c.412T>C (p.Phe138Leu)
c.793T>C (p.Phe265Leu)
2g.48688749A>TCA346749981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1048T>A (p.Phe350Ile)
c.948-610T>A (n.948-610T>A)
c.3441+17069A>T (n.3441+17069A>T)
c.948-166T>A (n.948-166T>A)
c.967T>A (p.Phe323Ile)
c.276+17069A>T (n.276+17069A>T)
c.*220+5475T>A (n.*220+5475T>A)
c.91T>A (p.Phe31Ile)
c.118T>A (p.Phe40Ile)
c.973T>A (p.Phe325Ile)
c.787T>A (p.Phe263Ile)
c.706T>A (p.Phe236Ile)
c.412T>A (p.Phe138Ile)
c.793T>A (p.Phe265Ile)
2g.48688750A=CA1248601255GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T= (p.Ala349=)
c.948-611T= (n.948-611T=)
c.3441+17070A= (n.3441+17070A=)
c.948-167T= (n.948-167T=)
c.966T= (p.Ala322=)
c.276+17070A= (n.276+17070A=)
c.*220+5474T= (n.*220+5474T=)
c.90T= (p.Ala30=)
c.117T= (p.Ala39=)
c.972T= (p.Ala324=)
c.786T= (p.Ala262=)
c.705T= (p.Ala235=)
c.411T= (p.Ala137=)
c.792T= (p.Ala264=)
2g.48688750A>CCA426124784GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T>G (p.Ala349=)
c.948-611T>G (n.948-611T>G)
c.3441+17070A>C (n.3441+17070A>C)
c.948-167T>G (n.948-167T>G)
c.966T>G (p.Ala322=)
c.276+17070A>C (n.276+17070A>C)
c.*220+5474T>G (n.*220+5474T>G)
c.90T>G (p.Ala30=)
c.117T>G (p.Ala39=)
c.972T>G (p.Ala324=)
c.786T>G (p.Ala262=)
c.705T>G (p.Ala235=)
c.411T>G (p.Ala137=)
c.792T>G (p.Ala264=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688750A>GCA426124785GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T>C (p.Ala349=)
c.948-611T>C (n.948-611T>C)
c.3441+17070A>G (n.3441+17070A>G)
c.948-167T>C (n.948-167T>C)
c.966T>C (p.Ala322=)
c.276+17070A>G (n.276+17070A>G)
c.*220+5474T>C (n.*220+5474T>C)
c.90T>C (p.Ala30=)
c.117T>C (p.Ala39=)
c.972T>C (p.Ala324=)
c.786T>C (p.Ala262=)
c.705T>C (p.Ala235=)
c.411T>C (p.Ala137=)
c.792T>C (p.Ala264=)
2g.48688750A>TCA426124786GTF2A1L,LHCGR,STON1-GTF2A1Lc.1047T>A (p.Ala349=)
c.948-611T>A (n.948-611T>A)
c.3441+17070A>T (n.3441+17070A>T)
c.948-167T>A (n.948-167T>A)
c.966T>A (p.Ala322=)
c.276+17070A>T (n.276+17070A>T)
c.*220+5474T>A (n.*220+5474T>A)
c.90T>A (p.Ala30=)
c.117T>A (p.Ala39=)
c.972T>A (p.Ala324=)
c.786T>A (p.Ala262=)
c.705T>A (p.Ala235=)
c.411T>A (p.Ala137=)
c.792T>A (p.Ala264=)
2g.48688751G>ACA1653089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C>T (p.Ala349Val)
c.948-612C>T (n.948-612C>T)
c.3441+17071G>A (n.3441+17071G>A)
c.948-168C>T (n.948-168C>T)
c.965C>T (p.Ala322Val)
c.276+17071G>A (n.276+17071G>A)
c.*220+5473C>T (n.*220+5473C>T)
c.89C>T (p.Ala30Val)
c.116C>T (p.Ala39Val)
c.971C>T (p.Ala324Val)
c.785C>T (p.Ala262Val)
c.704C>T (p.Ala235Val)
c.410C>T (p.Ala137Val)
c.791C>T (p.Ala264Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched