Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688737C>A | CA346749898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688737C= | CA1248601250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688737C>G | CA346749899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688737C>T | CA123927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688738A>C | CA346749902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688738A>G | CA426124774 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688738A>T | CA346749900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688739C>A | CA346749904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688739C>G | CA346749906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688739C>T | CA346749909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688740A= | CA1248601251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688740A>C | CA346749910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688740A>G | CA346749914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688740A>T | CA346749917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688741G>A | CA426124780 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688741G>C | CA426124779 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688741G>T | CA426124778 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688742G>A | CA346749919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688742G>C | CA346749926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688742G>T | CA346749923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688743G>A | CA46753340 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688743G>C | CA346749927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688743G= | CA1248601252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688743G>T | CA346749931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688744A= | CA1248601253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688744A>C | CA346749933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688744A>G | CA426124782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688744A>T | CA1653087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688745T>A | CA346749938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688745T>C | CA346749939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688745T>G | CA1653088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688745T= | CA1248601254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688746T>A | CA346749943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688746T>C | CA346749944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688746T>G | CA346749945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688747A>C | CA346749948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688747A>G | CA426124783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688747A>T | CA346749946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688750del | CA2658992089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688748A>C | CA346749952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688748A>G | CA346749963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688748A>T | CA346749970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688749A>C | CA346749972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688749A>G | CA346749975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688749A>T | CA346749981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688750A= | CA1248601255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688750A>C | CA426124784 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688750A>G | CA426124785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688750A>T | CA426124786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688751G>A | CA1653089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |