Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688650delCA2552856205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147del (p.Val383PhefsTer3)
c.948-511del (n.948-511del)
c.3441+16970del (n.3441+16970del)
c.948-67del (n.948-67del)
c.1066del (p.Val356PhefsTer3)
c.276+16970del (n.276+16970del)
c.*220+5574del (n.*220+5574del)
c.190del (p.Val64PhefsTer3)
c.217del (p.Val73PhefsTer3)
c.1072del (p.Val358PhefsTer3)
c.886del (p.Val296PhefsTer3)
c.805del (p.Val269PhefsTer3)
c.511del (p.Val171PhefsTer3)
c.892del (p.Val298PhefsTer3)
2g.48688650C>ACA346749154GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G>T (p.Val383Phe)
c.948-511G>T (n.948-511G>T)
c.3441+16970C>A (n.3441+16970C>A)
c.948-67G>T (n.948-67G>T)
c.1066G>T (p.Val356Phe)
c.276+16970C>A (n.276+16970C>A)
c.*220+5574G>T (n.*220+5574G>T)
c.190G>T (p.Val64Phe)
c.217G>T (p.Val73Phe)
c.1072G>T (p.Val358Phe)
c.886G>T (p.Val296Phe)
c.805G>T (p.Val269Phe)
c.511G>T (p.Val171Phe)
c.892G>T (p.Val298Phe)
2g.48688650C=CA1248601218GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G= (p.Val383=)
c.948-511G= (n.948-511G=)
c.3441+16970C= (n.3441+16970C=)
c.948-67G= (n.948-67G=)
c.1066G= (p.Val356=)
c.276+16970C= (n.276+16970C=)
c.*220+5574G= (n.*220+5574G=)
c.190G= (p.Val64=)
c.217G= (p.Val73=)
c.1072G= (p.Val358=)
c.886G= (p.Val296=)
c.805G= (p.Val269=)
c.511G= (p.Val171=)
c.892G= (p.Val298=)
2g.48688650C>GCA346749158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G>C (p.Val383Leu)
c.948-511G>C (n.948-511G>C)
c.3441+16970C>G (n.3441+16970C>G)
c.948-67G>C (n.948-67G>C)
c.1066G>C (p.Val356Leu)
c.276+16970C>G (n.276+16970C>G)
c.*220+5574G>C (n.*220+5574G>C)
c.190G>C (p.Val64Leu)
c.217G>C (p.Val73Leu)
c.1072G>C (p.Val358Leu)
c.886G>C (p.Val296Leu)
c.805G>C (p.Val269Leu)
c.511G>C (p.Val171Leu)
c.892G>C (p.Val298Leu)
2g.48688650C>TCA346749156GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G>A (p.Val383Ile)
c.948-511G>A (n.948-511G>A)
c.3441+16970C>T (n.3441+16970C>T)
c.948-67G>A (n.948-67G>A)
c.1066G>A (p.Val356Ile)
c.276+16970C>T (n.276+16970C>T)
c.*220+5574G>A (n.*220+5574G>A)
c.190G>A (p.Val64Ile)
c.217G>A (p.Val73Ile)
c.1072G>A (p.Val358Ile)
c.886G>A (p.Val296Ile)
c.805G>A (p.Val269Ile)
c.511G>A (p.Val171Ile)
c.892G>A (p.Val298Ile)
 dbSNP gnomAD v4
2g.48688651A>CCA346749177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1146T>G (p.Phe382Leu)
c.948-512T>G (n.948-512T>G)
c.3441+16971A>C (n.3441+16971A>C)
c.948-68T>G (n.948-68T>G)
c.1065T>G (p.Phe355Leu)
c.276+16971A>C (n.276+16971A>C)
c.*220+5573T>G (n.*220+5573T>G)
c.189T>G (p.Phe63Leu)
c.216T>G (p.Phe72Leu)
c.1071T>G (p.Phe357Leu)
c.885T>G (p.Phe295Leu)
c.804T>G (p.Phe268Leu)
c.510T>G (p.Phe170Leu)
c.891T>G (p.Phe297Leu)
 gnomAD v4
2g.48688651A>GCA426124678GTF2A1L,LHCGR,STON1-GTF2A1Lc.1146T>C (p.Phe382=)
c.948-512T>C (n.948-512T>C)
c.3441+16971A>G (n.3441+16971A>G)
c.948-68T>C (n.948-68T>C)
c.1065T>C (p.Phe355=)
c.276+16971A>G (n.276+16971A>G)
c.*220+5573T>C (n.*220+5573T>C)
c.189T>C (p.Phe63=)
c.216T>C (p.Phe72=)
c.1071T>C (p.Phe357=)
c.885T>C (p.Phe295=)
c.804T>C (p.Phe268=)
c.510T>C (p.Phe170=)
c.891T>C (p.Phe297=)
 gnomAD v4
2g.48688651A>TCA346749179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1146T>A (p.Phe382Leu)
c.948-512T>A (n.948-512T>A)
c.3441+16971A>T (n.3441+16971A>T)
c.948-68T>A (n.948-68T>A)
c.1065T>A (p.Phe355Leu)
c.276+16971A>T (n.276+16971A>T)
c.*220+5573T>A (n.*220+5573T>A)
c.189T>A (p.Phe63Leu)
c.216T>A (p.Phe72Leu)
c.1071T>A (p.Phe357Leu)
c.885T>A (p.Phe295Leu)
c.804T>A (p.Phe268Leu)
c.510T>A (p.Phe170Leu)
c.891T>A (p.Phe297Leu)
2g.48688652A>CCA346749183GTF2A1L,LHCGR,STON1-GTF2A1Lc.1145T>G (p.Phe382Cys)
c.948-513T>G (n.948-513T>G)
c.3441+16972A>C (n.3441+16972A>C)
c.948-69T>G (n.948-69T>G)
c.1064T>G (p.Phe355Cys)
c.276+16972A>C (n.276+16972A>C)
c.*220+5572T>G (n.*220+5572T>G)
c.188T>G (p.Phe63Cys)
c.215T>G (p.Phe72Cys)
c.1070T>G (p.Phe357Cys)
c.884T>G (p.Phe295Cys)
c.803T>G (p.Phe268Cys)
c.509T>G (p.Phe170Cys)
c.890T>G (p.Phe297Cys)
 gnomAD v4
2g.48688652A>GCA346749190GTF2A1L,LHCGR,STON1-GTF2A1Lc.1145T>C (p.Phe382Ser)
c.948-513T>C (n.948-513T>C)
c.3441+16972A>G (n.3441+16972A>G)
c.948-69T>C (n.948-69T>C)
c.1064T>C (p.Phe355Ser)
c.276+16972A>G (n.276+16972A>G)
c.*220+5572T>C (n.*220+5572T>C)
c.188T>C (p.Phe63Ser)
c.215T>C (p.Phe72Ser)
c.1070T>C (p.Phe357Ser)
c.884T>C (p.Phe295Ser)
c.803T>C (p.Phe268Ser)
c.509T>C (p.Phe170Ser)
c.890T>C (p.Phe297Ser)
 gnomAD v4
2g.48688652A>TCA346749197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1145T>A (p.Phe382Tyr)
c.948-513T>A (n.948-513T>A)
c.3441+16972A>T (n.3441+16972A>T)
c.948-69T>A (n.948-69T>A)
c.1064T>A (p.Phe355Tyr)
c.276+16972A>T (n.276+16972A>T)
c.*220+5572T>A (n.*220+5572T>A)
c.188T>A (p.Phe63Tyr)
c.215T>A (p.Phe72Tyr)
c.1070T>A (p.Phe357Tyr)
c.884T>A (p.Phe295Tyr)
c.803T>A (p.Phe268Tyr)
c.509T>A (p.Phe170Tyr)
c.890T>A (p.Phe297Tyr)
2g.48688653A>CCA346749432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1144T>G (p.Phe382Val)
c.948-514T>G (n.948-514T>G)
c.3441+16973A>C (n.3441+16973A>C)
c.948-70T>G (n.948-70T>G)
c.1063T>G (p.Phe355Val)
c.276+16973A>C (n.276+16973A>C)
c.*220+5571T>G (n.*220+5571T>G)
c.187T>G (p.Phe63Val)
c.214T>G (p.Phe72Val)
c.1069T>G (p.Phe357Val)
c.883T>G (p.Phe295Val)
c.802T>G (p.Phe268Val)
c.508T>G (p.Phe170Val)
c.889T>G (p.Phe297Val)
2g.48688653A>GCA346749431GTF2A1L,LHCGR,STON1-GTF2A1Lc.1144T>C (p.Phe382Leu)
c.948-514T>C (n.948-514T>C)
c.3441+16973A>G (n.3441+16973A>G)
c.948-70T>C (n.948-70T>C)
c.1063T>C (p.Phe355Leu)
c.276+16973A>G (n.276+16973A>G)
c.*220+5571T>C (n.*220+5571T>C)
c.187T>C (p.Phe63Leu)
c.214T>C (p.Phe72Leu)
c.1069T>C (p.Phe357Leu)
c.883T>C (p.Phe295Leu)
c.802T>C (p.Phe268Leu)
c.508T>C (p.Phe170Leu)
c.889T>C (p.Phe297Leu)
2g.48688653A>TCA346749428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1144T>A (p.Phe382Ile)
c.948-514T>A (n.948-514T>A)
c.3441+16973A>T (n.3441+16973A>T)
c.948-70T>A (n.948-70T>A)
c.1063T>A (p.Phe355Ile)
c.276+16973A>T (n.276+16973A>T)
c.*220+5571T>A (n.*220+5571T>A)
c.187T>A (p.Phe63Ile)
c.214T>A (p.Phe72Ile)
c.1069T>A (p.Phe357Ile)
c.883T>A (p.Phe295Ile)
c.802T>A (p.Phe268Ile)
c.508T>A (p.Phe170Ile)
c.889T>A (p.Phe297Ile)
2g.48688654A>CCA426124682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1143T>G (p.Leu381=)
c.948-515T>G (n.948-515T>G)
c.3441+16974A>C (n.3441+16974A>C)
c.948-71T>G (n.948-71T>G)
c.1062T>G (p.Leu354=)
c.276+16974A>C (n.276+16974A>C)
c.*220+5570T>G (n.*220+5570T>G)
c.186T>G (p.Leu62=)
c.213T>G (p.Leu71=)
c.1068T>G (p.Leu356=)
c.882T>G (p.Leu294=)
c.801T>G (p.Leu267=)
c.507T>G (p.Leu169=)
c.888T>G (p.Leu296=)
2g.48688654A>GCA426124683GTF2A1L,LHCGR,STON1-GTF2A1Lc.1143T>C (p.Leu381=)
c.948-515T>C (n.948-515T>C)
c.3441+16974A>G (n.3441+16974A>G)
c.948-71T>C (n.948-71T>C)
c.1062T>C (p.Leu354=)
c.276+16974A>G (n.276+16974A>G)
c.*220+5570T>C (n.*220+5570T>C)
c.186T>C (p.Leu62=)
c.213T>C (p.Leu71=)
c.1068T>C (p.Leu356=)
c.882T>C (p.Leu294=)
c.801T>C (p.Leu267=)
c.507T>C (p.Leu169=)
c.888T>C (p.Leu296=)
2g.48688654A>TCA426124684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1143T>A (p.Leu381=)
c.948-515T>A (n.948-515T>A)
c.3441+16974A>T (n.3441+16974A>T)
c.948-71T>A (n.948-71T>A)
c.1062T>A (p.Leu354=)
c.276+16974A>T (n.276+16974A>T)
c.*220+5570T>A (n.*220+5570T>A)
c.186T>A (p.Leu62=)
c.213T>A (p.Leu71=)
c.1068T>A (p.Leu356=)
c.882T>A (p.Leu294=)
c.801T>A (p.Leu267=)
c.507T>A (p.Leu169=)
c.888T>A (p.Leu296=)
 gnomAD v4
2g.48688655A=CA1248601219GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T= (p.Leu381=)
c.948-516T= (n.948-516T=)
c.3441+16975A= (n.3441+16975A=)
c.948-72T= (n.948-72T=)
c.1061T= (p.Leu354=)
c.276+16975A= (n.276+16975A=)
c.*220+5569T= (n.*220+5569T=)
c.185T= (p.Leu62=)
c.212T= (p.Leu71=)
c.1067T= (p.Leu356=)
c.881T= (p.Leu294=)
c.800T= (p.Leu267=)
c.506T= (p.Leu169=)
c.887T= (p.Leu296=)
2g.48688655A>CCA346749438GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T>G (p.Leu381Arg)
c.948-516T>G (n.948-516T>G)
c.3441+16975A>C (n.3441+16975A>C)
c.948-72T>G (n.948-72T>G)
c.1061T>G (p.Leu354Arg)
c.276+16975A>C (n.276+16975A>C)
c.*220+5569T>G (n.*220+5569T>G)
c.185T>G (p.Leu62Arg)
c.212T>G (p.Leu71Arg)
c.1067T>G (p.Leu356Arg)
c.881T>G (p.Leu294Arg)
c.800T>G (p.Leu267Arg)
c.506T>G (p.Leu169Arg)
c.887T>G (p.Leu296Arg)
2g.48688655A>GCA346749436GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T>C (p.Leu381Pro)
c.948-516T>C (n.948-516T>C)
c.3441+16975A>G (n.3441+16975A>G)
c.948-72T>C (n.948-72T>C)
c.1061T>C (p.Leu354Pro)
c.276+16975A>G (n.276+16975A>G)
c.*220+5569T>C (n.*220+5569T>C)
c.185T>C (p.Leu62Pro)
c.212T>C (p.Leu71Pro)
c.1067T>C (p.Leu356Pro)
c.881T>C (p.Leu294Pro)
c.800T>C (p.Leu267Pro)
c.506T>C (p.Leu169Pro)
c.887T>C (p.Leu296Pro)
2g.48688655A>TCA346749444GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T>A (p.Leu381His)
c.948-516T>A (n.948-516T>A)
c.3441+16975A>T (n.3441+16975A>T)
c.948-72T>A (n.948-72T>A)
c.1061T>A (p.Leu354His)
c.276+16975A>T (n.276+16975A>T)
c.*220+5569T>A (n.*220+5569T>A)
c.185T>A (p.Leu62His)
c.212T>A (p.Leu71His)
c.1067T>A (p.Leu356His)
c.881T>A (p.Leu294His)
c.800T>A (p.Leu267His)
c.506T>A (p.Leu169His)
c.887T>A (p.Leu296His)
 dbSNP
2g.48688656delCA2658992086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141del (p.Leu381PhefsTer5)
c.948-517del (n.948-517del)
c.3441+16976del (n.3441+16976del)
c.948-73del (n.948-73del)
c.1060del (p.Leu354PhefsTer5)
c.276+16976del (n.276+16976del)
c.*220+5568del (n.*220+5568del)
c.184del (p.Leu62PhefsTer5)
c.211del (p.Leu71PhefsTer5)
c.1066del (p.Leu356PhefsTer5)
c.880del (p.Leu294PhefsTer5)
c.799del (p.Leu267PhefsTer5)
c.505del (p.Leu169PhefsTer5)
c.886del (p.Leu296PhefsTer5)
 gnomAD v4
2g.48688656G>ACA346749448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C>T (p.Leu381Phe)
c.948-517C>T (n.948-517C>T)
c.3441+16976G>A (n.3441+16976G>A)
c.948-73C>T (n.948-73C>T)
c.1060C>T (p.Leu354Phe)
c.276+16976G>A (n.276+16976G>A)
c.*220+5568C>T (n.*220+5568C>T)
c.184C>T (p.Leu62Phe)
c.211C>T (p.Leu71Phe)
c.1066C>T (p.Leu356Phe)
c.880C>T (p.Leu294Phe)
c.799C>T (p.Leu267Phe)
c.505C>T (p.Leu169Phe)
c.886C>T (p.Leu296Phe)
2g.48688656G>CCA346749450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C>G (p.Leu381Val)
c.948-517C>G (n.948-517C>G)
c.3441+16976G>C (n.3441+16976G>C)
c.948-73C>G (n.948-73C>G)
c.1060C>G (p.Leu354Val)
c.276+16976G>C (n.276+16976G>C)
c.*220+5568C>G (n.*220+5568C>G)
c.184C>G (p.Leu62Val)
c.211C>G (p.Leu71Val)
c.1066C>G (p.Leu356Val)
c.880C>G (p.Leu294Val)
c.799C>G (p.Leu267Val)
c.505C>G (p.Leu169Val)
c.886C>G (p.Leu296Val)
2g.48688656G=CA1248601220GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C= (p.Leu381=)
c.948-517C= (n.948-517C=)
c.3441+16976G= (n.3441+16976G=)
c.948-73C= (n.948-73C=)
c.1060C= (p.Leu354=)
c.276+16976G= (n.276+16976G=)
c.*220+5568C= (n.*220+5568C=)
c.184C= (p.Leu62=)
c.211C= (p.Leu71=)
c.1066C= (p.Leu356=)
c.880C= (p.Leu294=)
c.799C= (p.Leu267=)
c.505C= (p.Leu169=)
c.886C= (p.Leu296=)
2g.48688656G>TCA346749452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C>A (p.Leu381Ile)
c.948-517C>A (n.948-517C>A)
c.3441+16976G>T (n.3441+16976G>T)
c.948-73C>A (n.948-73C>A)
c.1060C>A (p.Leu354Ile)
c.276+16976G>T (n.276+16976G>T)
c.*220+5568C>A (n.*220+5568C>A)
c.184C>A (p.Leu62Ile)
c.211C>A (p.Leu71Ile)
c.1066C>A (p.Leu356Ile)
c.880C>A (p.Leu294Ile)
c.799C>A (p.Leu267Ile)
c.505C>A (p.Leu169Ile)
c.886C>A (p.Leu296Ile)
 dbSNP gnomAD v2
2g.48688657A=CA1248601221GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T= (p.Val380=)
c.948-518T= (n.948-518T=)
c.3441+16977A= (n.3441+16977A=)
c.948-74T= (n.948-74T=)
c.1059T= (p.Val353=)
c.276+16977A= (n.276+16977A=)
c.*220+5567T= (n.*220+5567T=)
c.183T= (p.Val61=)
c.210T= (p.Val70=)
c.1065T= (p.Val355=)
c.879T= (p.Val293=)
c.798T= (p.Val266=)
c.504T= (p.Val168=)
c.885T= (p.Val295=)
2g.48688657A>CCA426124687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T>G (p.Val380=)
c.948-518T>G (n.948-518T>G)
c.3441+16977A>C (n.3441+16977A>C)
c.948-74T>G (n.948-74T>G)
c.1059T>G (p.Val353=)
c.276+16977A>C (n.276+16977A>C)
c.*220+5567T>G (n.*220+5567T>G)
c.183T>G (p.Val61=)
c.210T>G (p.Val70=)
c.1065T>G (p.Val355=)
c.879T>G (p.Val293=)
c.798T>G (p.Val266=)
c.504T>G (p.Val168=)
c.885T>G (p.Val295=)
2g.48688657A>GCA426124688GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T>C (p.Val380=)
c.948-518T>C (n.948-518T>C)
c.3441+16977A>G (n.3441+16977A>G)
c.948-74T>C (n.948-74T>C)
c.1059T>C (p.Val353=)
c.276+16977A>G (n.276+16977A>G)
c.*220+5567T>C (n.*220+5567T>C)
c.183T>C (p.Val61=)
c.210T>C (p.Val70=)
c.1065T>C (p.Val355=)
c.879T>C (p.Val293=)
c.798T>C (p.Val266=)
c.504T>C (p.Val168=)
c.885T>C (p.Val295=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688657A>TCA426124689GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T>A (p.Val380=)
c.948-518T>A (n.948-518T>A)
c.3441+16977A>T (n.3441+16977A>T)
c.948-74T>A (n.948-74T>A)
c.1059T>A (p.Val353=)
c.276+16977A>T (n.276+16977A>T)
c.*220+5567T>A (n.*220+5567T>A)
c.183T>A (p.Val61=)
c.210T>A (p.Val70=)
c.1065T>A (p.Val355=)
c.879T>A (p.Val293=)
c.798T>A (p.Val266=)
c.504T>A (p.Val168=)
c.885T>A (p.Val295=)
2g.48688658A=CA1248601222GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T= (p.Val380=)
c.948-519T= (n.948-519T=)
c.3441+16978A= (n.3441+16978A=)
c.948-75T= (n.948-75T=)
c.1058T= (p.Val353=)
c.276+16978A= (n.276+16978A=)
c.*220+5566T= (n.*220+5566T=)
c.182T= (p.Val61=)
c.209T= (p.Val70=)
c.1064T= (p.Val355=)
c.878T= (p.Val293=)
c.797T= (p.Val266=)
c.503T= (p.Val168=)
c.884T= (p.Val295=)
2g.48688658A>CCA346749455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T>G (p.Val380Gly)
c.948-519T>G (n.948-519T>G)
c.3441+16978A>C (n.3441+16978A>C)
c.948-75T>G (n.948-75T>G)
c.1058T>G (p.Val353Gly)
c.276+16978A>C (n.276+16978A>C)
c.*220+5566T>G (n.*220+5566T>G)
c.182T>G (p.Val61Gly)
c.209T>G (p.Val70Gly)
c.1064T>G (p.Val355Gly)
c.878T>G (p.Val293Gly)
c.797T>G (p.Val266Gly)
c.503T>G (p.Val168Gly)
c.884T>G (p.Val295Gly)
2g.48688658A>GCA1653076GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T>C (p.Val380Ala)
c.948-519T>C (n.948-519T>C)
c.3441+16978A>G (n.3441+16978A>G)
c.948-75T>C (n.948-75T>C)
c.1058T>C (p.Val353Ala)
c.276+16978A>G (n.276+16978A>G)
c.*220+5566T>C (n.*220+5566T>C)
c.182T>C (p.Val61Ala)
c.209T>C (p.Val70Ala)
c.1064T>C (p.Val355Ala)
c.878T>C (p.Val293Ala)
c.797T>C (p.Val266Ala)
c.503T>C (p.Val168Ala)
c.884T>C (p.Val295Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688658A>TCA346749460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T>A (p.Val380Asp)
c.948-519T>A (n.948-519T>A)
c.3441+16978A>T (n.3441+16978A>T)
c.948-75T>A (n.948-75T>A)
c.1058T>A (p.Val353Asp)
c.276+16978A>T (n.276+16978A>T)
c.*220+5566T>A (n.*220+5566T>A)
c.182T>A (p.Val61Asp)
c.209T>A (p.Val70Asp)
c.1064T>A (p.Val355Asp)
c.878T>A (p.Val293Asp)
c.797T>A (p.Val266Asp)
c.503T>A (p.Val168Asp)
c.884T>A (p.Val295Asp)
2g.48688659C>ACA346749465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G>T (p.Val380Phe)
c.948-520G>T (n.948-520G>T)
c.3441+16979C>A (n.3441+16979C>A)
c.948-76G>T (n.948-76G>T)
c.1057G>T (p.Val353Phe)
c.276+16979C>A (n.276+16979C>A)
c.*220+5565G>T (n.*220+5565G>T)
c.181G>T (p.Val61Phe)
c.208G>T (p.Val70Phe)
c.1063G>T (p.Val355Phe)
c.877G>T (p.Val293Phe)
c.796G>T (p.Val266Phe)
c.502G>T (p.Val168Phe)
c.883G>T (p.Val295Phe)
2g.48688659C=CA1248601223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G= (p.Val380=)
c.948-520G= (n.948-520G=)
c.3441+16979C= (n.3441+16979C=)
c.948-76G= (n.948-76G=)
c.1057G= (p.Val353=)
c.276+16979C= (n.276+16979C=)
c.*220+5565G= (n.*220+5565G=)
c.181G= (p.Val61=)
c.208G= (p.Val70=)
c.1063G= (p.Val355=)
c.877G= (p.Val293=)
c.796G= (p.Val266=)
c.502G= (p.Val168=)
c.883G= (p.Val295=)
2g.48688659C>GCA346749464GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G>C (p.Val380Leu)
c.948-520G>C (n.948-520G>C)
c.3441+16979C>G (n.3441+16979C>G)
c.948-76G>C (n.948-76G>C)
c.1057G>C (p.Val353Leu)
c.276+16979C>G (n.276+16979C>G)
c.*220+5565G>C (n.*220+5565G>C)
c.181G>C (p.Val61Leu)
c.208G>C (p.Val70Leu)
c.1063G>C (p.Val355Leu)
c.877G>C (p.Val293Leu)
c.796G>C (p.Val266Leu)
c.502G>C (p.Val168Leu)
c.883G>C (p.Val295Leu)
 dbSNP gnomAD v4
2g.48688659C>TCA46753232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G>A (p.Val380Ile)
c.948-520G>A (n.948-520G>A)
c.3441+16979C>T (n.3441+16979C>T)
c.948-76G>A (n.948-76G>A)
c.1057G>A (p.Val353Ile)
c.276+16979C>T (n.276+16979C>T)
c.*220+5565G>A (n.*220+5565G>A)
c.181G>A (p.Val61Ile)
c.208G>A (p.Val70Ile)
c.1063G>A (p.Val355Ile)
c.877G>A (p.Val293Ile)
c.796G>A (p.Val266Ile)
c.502G>A (p.Val168Ile)
c.883G>A (p.Val295Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48688660A>CCA426124693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1137T>G (p.Thr379=)
c.948-521T>G (n.948-521T>G)
c.3441+16980A>C (n.3441+16980A>C)
c.948-77T>G (n.948-77T>G)
c.1056T>G (p.Thr352=)
c.276+16980A>C (n.276+16980A>C)
c.*220+5564T>G (n.*220+5564T>G)
c.180T>G (p.Thr60=)
c.207T>G (p.Thr69=)
c.1062T>G (p.Thr354=)
c.876T>G (p.Thr292=)
c.795T>G (p.Thr265=)
c.501T>G (p.Thr167=)
c.882T>G (p.Thr294=)
 gnomAD v4
2g.48688660A>GCA426124694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1137T>C (p.Thr379=)
c.948-521T>C (n.948-521T>C)
c.3441+16980A>G (n.3441+16980A>G)
c.948-77T>C (n.948-77T>C)
c.1056T>C (p.Thr352=)
c.276+16980A>G (n.276+16980A>G)
c.*220+5564T>C (n.*220+5564T>C)
c.180T>C (p.Thr60=)
c.207T>C (p.Thr69=)
c.1062T>C (p.Thr354=)
c.876T>C (p.Thr292=)
c.795T>C (p.Thr265=)
c.501T>C (p.Thr167=)
c.882T>C (p.Thr294=)
2g.48688660A>TCA426124695GTF2A1L,LHCGR,STON1-GTF2A1Lc.1137T>A (p.Thr379=)
c.948-521T>A (n.948-521T>A)
c.3441+16980A>T (n.3441+16980A>T)
c.948-77T>A (n.948-77T>A)
c.1056T>A (p.Thr352=)
c.276+16980A>T (n.276+16980A>T)
c.*220+5564T>A (n.*220+5564T>A)
c.180T>A (p.Thr60=)
c.207T>A (p.Thr69=)
c.1062T>A (p.Thr354=)
c.876T>A (p.Thr292=)
c.795T>A (p.Thr265=)
c.501T>A (p.Thr167=)
c.882T>A (p.Thr294=)
2g.48688661G>ACA346749467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1136C>T (p.Thr379Ile)
c.948-522C>T (n.948-522C>T)
c.3441+16981G>A (n.3441+16981G>A)
c.948-78C>T (n.948-78C>T)
c.1055C>T (p.Thr352Ile)
c.276+16981G>A (n.276+16981G>A)
c.*220+5563C>T (n.*220+5563C>T)
c.179C>T (p.Thr60Ile)
c.206C>T (p.Thr69Ile)
c.1061C>T (p.Thr354Ile)
c.875C>T (p.Thr292Ile)
c.794C>T (p.Thr265Ile)
c.500C>T (p.Thr167Ile)
c.881C>T (p.Thr294Ile)
2g.48688661G>CCA346749470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1136C>G (p.Thr379Ser)
c.948-522C>G (n.948-522C>G)
c.3441+16981G>C (n.3441+16981G>C)
c.948-78C>G (n.948-78C>G)
c.1055C>G (p.Thr352Ser)
c.276+16981G>C (n.276+16981G>C)
c.*220+5563C>G (n.*220+5563C>G)
c.179C>G (p.Thr60Ser)
c.206C>G (p.Thr69Ser)
c.1061C>G (p.Thr354Ser)
c.875C>G (p.Thr292Ser)
c.794C>G (p.Thr265Ser)
c.500C>G (p.Thr167Ser)
c.881C>G (p.Thr294Ser)
2g.48688661G>TCA346749472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1136C>A (p.Thr379Asn)
c.948-522C>A (n.948-522C>A)
c.3441+16981G>T (n.3441+16981G>T)
c.948-78C>A (n.948-78C>A)
c.1055C>A (p.Thr352Asn)
c.276+16981G>T (n.276+16981G>T)
c.*220+5563C>A (n.*220+5563C>A)
c.179C>A (p.Thr60Asn)
c.206C>A (p.Thr69Asn)
c.1061C>A (p.Thr354Asn)
c.875C>A (p.Thr292Asn)
c.794C>A (p.Thr265Asn)
c.500C>A (p.Thr167Asn)
c.881C>A (p.Thr294Asn)
2g.48688662T>ACA346749475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A>T (p.Thr379Ser)
c.948-523A>T (n.948-523A>T)
c.3441+16982T>A (n.3441+16982T>A)
c.948-79A>T (n.948-79A>T)
c.1054A>T (p.Thr352Ser)
c.276+16982T>A (n.276+16982T>A)
c.*220+5562A>T (n.*220+5562A>T)
c.178A>T (p.Thr60Ser)
c.205A>T (p.Thr69Ser)
c.1060A>T (p.Thr354Ser)
c.874A>T (p.Thr292Ser)
c.793A>T (p.Thr265Ser)
c.499A>T (p.Thr167Ser)
c.880A>T (p.Thr294Ser)
2g.48688662T>CCA1653077GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A>G (p.Thr379Ala)
c.948-523A>G (n.948-523A>G)
c.3441+16982T>C (n.3441+16982T>C)
c.948-79A>G (n.948-79A>G)
c.1054A>G (p.Thr352Ala)
c.276+16982T>C (n.276+16982T>C)
c.*220+5562A>G (n.*220+5562A>G)
c.178A>G (p.Thr60Ala)
c.205A>G (p.Thr69Ala)
c.1060A>G (p.Thr354Ala)
c.874A>G (p.Thr292Ala)
c.793A>G (p.Thr265Ala)
c.499A>G (p.Thr167Ala)
c.880A>G (p.Thr294Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688662T>GCA346749479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A>C (p.Thr379Pro)
c.948-523A>C (n.948-523A>C)
c.3441+16982T>G (n.3441+16982T>G)
c.948-79A>C (n.948-79A>C)
c.1054A>C (p.Thr352Pro)
c.276+16982T>G (n.276+16982T>G)
c.*220+5562A>C (n.*220+5562A>C)
c.178A>C (p.Thr60Pro)
c.205A>C (p.Thr69Pro)
c.1060A>C (p.Thr354Pro)
c.874A>C (p.Thr292Pro)
c.793A>C (p.Thr265Pro)
c.499A>C (p.Thr167Pro)
c.880A>C (p.Thr294Pro)
2g.48688662T=CA1248601224GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A= (p.Thr379=)
c.948-523A= (n.948-523A=)
c.3441+16982T= (n.3441+16982T=)
c.948-79A= (n.948-79A=)
c.1054A= (p.Thr352=)
c.276+16982T= (n.276+16982T=)
c.*220+5562A= (n.*220+5562A=)
c.178A= (p.Thr60=)
c.205A= (p.Thr69=)
c.1060A= (p.Thr354=)
c.874A= (p.Thr292=)
c.793A= (p.Thr265=)
c.499A= (p.Thr167=)
c.880A= (p.Thr294=)
2g.48688663C>ACA346749482GTF2A1L,LHCGR,STON1-GTF2A1Lc.1134G>T (p.Met378Ile)
c.948-524G>T (n.948-524G>T)
c.3441+16983C>A (n.3441+16983C>A)
c.948-80G>T (n.948-80G>T)
c.1053G>T (p.Met351Ile)
c.276+16983C>A (n.276+16983C>A)
c.*220+5561G>T (n.*220+5561G>T)
c.177G>T (p.Met59Ile)
c.204G>T (p.Met68Ile)
c.1059G>T (p.Met353Ile)
c.873G>T (p.Met291Ile)
c.792G>T (p.Met264Ile)
c.498G>T (p.Met166Ile)
c.879G>T (p.Met293Ile)
2g.48688663C>GCA346749487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1134G>C (p.Met378Ile)
c.948-524G>C (n.948-524G>C)
c.3441+16983C>G (n.3441+16983C>G)
c.948-80G>C (n.948-80G>C)
c.1053G>C (p.Met351Ile)
c.276+16983C>G (n.276+16983C>G)
c.*220+5561G>C (n.*220+5561G>C)
c.177G>C (p.Met59Ile)
c.204G>C (p.Met68Ile)
c.1059G>C (p.Met353Ile)
c.873G>C (p.Met291Ile)
c.792G>C (p.Met264Ile)
c.498G>C (p.Met166Ile)
c.879G>C (p.Met293Ile)

Number of alleles fetched