Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.48688751G>CCA346749991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C>G (p.Ala349Gly)
c.948-612C>G (n.948-612C>G)
c.3441+17071G>C (n.3441+17071G>C)
c.948-168C>G (n.948-168C>G)
c.965C>G (p.Ala322Gly)
c.276+17071G>C (n.276+17071G>C)
c.*220+5473C>G (n.*220+5473C>G)
c.89C>G (p.Ala30Gly)
c.116C>G (p.Ala39Gly)
c.971C>G (p.Ala324Gly)
c.785C>G (p.Ala262Gly)
c.704C>G (p.Ala235Gly)
c.410C>G (p.Ala137Gly)
c.791C>G (p.Ala264Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.48688751G=CA1248601256GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C= (p.Ala349=)
c.948-612C= (n.948-612C=)
c.3441+17071G= (n.3441+17071G=)
c.948-168C= (n.948-168C=)
c.965C= (p.Ala322=)
c.276+17071G= (n.276+17071G=)
c.*220+5473C= (n.*220+5473C=)
c.89C= (p.Ala30=)
c.116C= (p.Ala39=)
c.971C= (p.Ala324=)
c.785C= (p.Ala262=)
c.704C= (p.Ala235=)
c.410C= (p.Ala137=)
c.791C= (p.Ala264=)
2g.48688751G>TCA346749987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1046C>A (p.Ala349Asp)
c.948-612C>A (n.948-612C>A)
c.3441+17071G>T (n.3441+17071G>T)
c.948-168C>A (n.948-168C>A)
c.965C>A (p.Ala322Asp)
c.276+17071G>T (n.276+17071G>T)
c.*220+5473C>A (n.*220+5473C>A)
c.89C>A (p.Ala30Asp)
c.116C>A (p.Ala39Asp)
c.971C>A (p.Ala324Asp)
c.785C>A (p.Ala262Asp)
c.704C>A (p.Ala235Asp)
c.410C>A (p.Ala137Asp)
c.791C>A (p.Ala264Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.48688752C>ACA346749995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G>T (p.Ala349Ser)
c.948-613G>T (n.948-613G>T)
c.3441+17072C>A (n.3441+17072C>A)
c.948-169G>T (n.948-169G>T)
c.964G>T (p.Ala322Ser)
c.276+17072C>A (n.276+17072C>A)
c.*220+5472G>T (n.*220+5472G>T)
c.88G>T (p.Ala30Ser)
c.115G>T (p.Ala39Ser)
c.970G>T (p.Ala324Ser)
c.784G>T (p.Ala262Ser)
c.703G>T (p.Ala235Ser)
c.409G>T (p.Ala137Ser)
c.790G>T (p.Ala264Ser)
2g.48688752C=CA1248601257GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G= (p.Ala349=)
c.948-613G= (n.948-613G=)
c.3441+17072C= (n.3441+17072C=)
c.948-169G= (n.948-169G=)
c.964G= (p.Ala322=)
c.276+17072C= (n.276+17072C=)
c.*220+5472G= (n.*220+5472G=)
c.88G= (p.Ala30=)
c.115G= (p.Ala39=)
c.970G= (p.Ala324=)
c.784G= (p.Ala262=)
c.703G= (p.Ala235=)
c.409G= (p.Ala137=)
c.790G= (p.Ala264=)
2g.48688752C>GCA346749996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G>C (p.Ala349Pro)
c.948-613G>C (n.948-613G>C)
c.3441+17072C>G (n.3441+17072C>G)
c.948-169G>C (n.948-169G>C)
c.964G>C (p.Ala322Pro)
c.276+17072C>G (n.276+17072C>G)
c.*220+5472G>C (n.*220+5472G>C)
c.88G>C (p.Ala30Pro)
c.115G>C (p.Ala39Pro)
c.970G>C (p.Ala324Pro)
c.784G>C (p.Ala262Pro)
c.703G>C (p.Ala235Pro)
c.409G>C (p.Ala137Pro)
c.790G>C (p.Ala264Pro)
 dbSNP
2g.48688752C>TCA46753361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1045G>A (p.Ala349Thr)
c.948-613G>A (n.948-613G>A)
c.3441+17072C>T (n.3441+17072C>T)
c.948-169G>A (n.948-169G>A)
c.964G>A (p.Ala322Thr)
c.276+17072C>T (n.276+17072C>T)
c.*220+5472G>A (n.*220+5472G>A)
c.88G>A (p.Ala30Thr)
c.115G>A (p.Ala39Thr)
c.970G>A (p.Ala324Thr)
c.784G>A (p.Ala262Thr)
c.703G>A (p.Ala235Thr)
c.409G>A (p.Ala137Thr)
c.790G>A (p.Ala264Thr)
 dbSNP gnomAD v4
2g.48688753A=CA1248601258GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T= (p.Asp348=)
c.948-614T= (n.948-614T=)
c.3441+17073A= (n.3441+17073A=)
c.948-170T= (n.948-170T=)
c.963T= (p.Asp321=)
c.276+17073A= (n.276+17073A=)
c.*220+5471T= (n.*220+5471T=)
c.87T= (p.Asp29=)
c.114T= (p.Asp38=)
c.969T= (p.Asp323=)
c.783T= (p.Asp261=)
c.702T= (p.Asp234=)
c.408T= (p.Asp136=)
c.789T= (p.Asp263=)
2g.48688753A>CCA346749999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T>G (p.Asp348Glu)
c.948-614T>G (n.948-614T>G)
c.3441+17073A>C (n.3441+17073A>C)
c.948-170T>G (n.948-170T>G)
c.963T>G (p.Asp321Glu)
c.276+17073A>C (n.276+17073A>C)
c.*220+5471T>G (n.*220+5471T>G)
c.87T>G (p.Asp29Glu)
c.114T>G (p.Asp38Glu)
c.969T>G (p.Asp323Glu)
c.783T>G (p.Asp261Glu)
c.702T>G (p.Asp234Glu)
c.408T>G (p.Asp136Glu)
c.789T>G (p.Asp263Glu)
2g.48688753A>GCA1653090GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T>C (p.Asp348=)
c.948-614T>C (n.948-614T>C)
c.3441+17073A>G (n.3441+17073A>G)
c.948-170T>C (n.948-170T>C)
c.963T>C (p.Asp321=)
c.276+17073A>G (n.276+17073A>G)
c.*220+5471T>C (n.*220+5471T>C)
c.87T>C (p.Asp29=)
c.114T>C (p.Asp38=)
c.969T>C (p.Asp323=)
c.783T>C (p.Asp261=)
c.702T>C (p.Asp234=)
c.408T>C (p.Asp136=)
c.789T>C (p.Asp263=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688753A>TCA346750002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1044T>A (p.Asp348Glu)
c.948-614T>A (n.948-614T>A)
c.3441+17073A>T (n.3441+17073A>T)
c.948-170T>A (n.948-170T>A)
c.963T>A (p.Asp321Glu)
c.276+17073A>T (n.276+17073A>T)
c.*220+5471T>A (n.*220+5471T>A)
c.87T>A (p.Asp29Glu)
c.114T>A (p.Asp38Glu)
c.969T>A (p.Asp323Glu)
c.783T>A (p.Asp261Glu)
c.702T>A (p.Asp234Glu)
c.408T>A (p.Asp136Glu)
c.789T>A (p.Asp263Glu)
2g.48688754T>ACA346750004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1043A>T (p.Asp348Val)
c.948-615A>T (n.948-615A>T)
c.3441+17074T>A (n.3441+17074T>A)
c.948-171A>T (n.948-171A>T)
c.962A>T (p.Asp321Val)
c.276+17074T>A (n.276+17074T>A)
c.*220+5470A>T (n.*220+5470A>T)
c.86A>T (p.Asp29Val)
c.113A>T (p.Asp38Val)
c.968A>T (p.Asp323Val)
c.782A>T (p.Asp261Val)
c.701A>T (p.Asp234Val)
c.407A>T (p.Asp136Val)
c.788A>T (p.Asp263Val)
2g.48688754T>CCA346750009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1043A>G (p.Asp348Gly)
c.948-615A>G (n.948-615A>G)
c.3441+17074T>C (n.3441+17074T>C)
c.948-171A>G (n.948-171A>G)
c.962A>G (p.Asp321Gly)
c.276+17074T>C (n.276+17074T>C)
c.*220+5470A>G (n.*220+5470A>G)
c.86A>G (p.Asp29Gly)
c.113A>G (p.Asp38Gly)
c.968A>G (p.Asp323Gly)
c.782A>G (p.Asp261Gly)
c.701A>G (p.Asp234Gly)
c.407A>G (p.Asp136Gly)
c.788A>G (p.Asp263Gly)
2g.48688754T>GCA346750006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1043A>C (p.Asp348Ala)
c.948-615A>C (n.948-615A>C)
c.3441+17074T>G (n.3441+17074T>G)
c.948-171A>C (n.948-171A>C)
c.962A>C (p.Asp321Ala)
c.276+17074T>G (n.276+17074T>G)
c.*220+5470A>C (n.*220+5470A>C)
c.86A>C (p.Asp29Ala)
c.113A>C (p.Asp38Ala)
c.968A>C (p.Asp323Ala)
c.782A>C (p.Asp261Ala)
c.701A>C (p.Asp234Ala)
c.407A>C (p.Asp136Ala)
c.788A>C (p.Asp263Ala)
2g.48688755C>ACA346750010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1042G>T (p.Asp348Tyr)
c.948-616G>T (n.948-616G>T)
c.3441+17075C>A (n.3441+17075C>A)
c.948-172G>T (n.948-172G>T)
c.961G>T (p.Asp321Tyr)
c.276+17075C>A (n.276+17075C>A)
c.*220+5469G>T (n.*220+5469G>T)
c.85G>T (p.Asp29Tyr)
c.112G>T (p.Asp38Tyr)
c.967G>T (p.Asp323Tyr)
c.781G>T (p.Asp261Tyr)
c.700G>T (p.Asp234Tyr)
c.406G>T (p.Asp136Tyr)
c.787G>T (p.Asp263Tyr)
2g.48688755C>GCA346750011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1042G>C (p.Asp348His)
c.948-616G>C (n.948-616G>C)
c.3441+17075C>G (n.3441+17075C>G)
c.948-172G>C (n.948-172G>C)
c.961G>C (p.Asp321His)
c.276+17075C>G (n.276+17075C>G)
c.*220+5469G>C (n.*220+5469G>C)
c.85G>C (p.Asp29His)
c.112G>C (p.Asp38His)
c.967G>C (p.Asp323His)
c.781G>C (p.Asp261His)
c.700G>C (p.Asp234His)
c.406G>C (p.Asp136His)
c.787G>C (p.Asp263His)
 COSMIC
2g.48688755C>TCA346750012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1042G>A (p.Asp348Asn)
c.948-616G>A (n.948-616G>A)
c.3441+17075C>T (n.3441+17075C>T)
c.948-172G>A (n.948-172G>A)
c.961G>A (p.Asp321Asn)
c.276+17075C>T (n.276+17075C>T)
c.*220+5469G>A (n.*220+5469G>A)
c.85G>A (p.Asp29Asn)
c.112G>A (p.Asp38Asn)
c.967G>A (p.Asp323Asn)
c.781G>A (p.Asp261Asn)
c.700G>A (p.Asp234Asn)
c.406G>A (p.Asp136Asn)
c.787G>A (p.Asp263Asn)
2g.48688756T>ACA426124790GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>T (p.Pro347=)
c.948-617A>T (n.948-617A>T)
c.3441+17076T>A (n.3441+17076T>A)
c.948-173A>T (n.948-173A>T)
c.960A>T (p.Pro320=)
c.276+17076T>A (n.276+17076T>A)
c.*220+5468A>T (n.*220+5468A>T)
c.84A>T (p.Pro28=)
c.111A>T (p.Pro37=)
c.966A>T (p.Pro322=)
c.780A>T (p.Pro260=)
c.699A>T (p.Pro233=)
c.405A>T (p.Pro135=)
c.786A>T (p.Pro262=)
2g.48688756T>CCA426124791GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>G (p.Pro347=)
c.948-617A>G (n.948-617A>G)
c.3441+17076T>C (n.3441+17076T>C)
c.948-173A>G (n.948-173A>G)
c.960A>G (p.Pro320=)
c.276+17076T>C (n.276+17076T>C)
c.*220+5468A>G (n.*220+5468A>G)
c.84A>G (p.Pro28=)
c.111A>G (p.Pro37=)
c.966A>G (p.Pro322=)
c.780A>G (p.Pro260=)
c.699A>G (p.Pro233=)
c.405A>G (p.Pro135=)
c.786A>G (p.Pro262=)
 gnomAD v4 COSMIC
2g.48688756T>GCA426124792GTF2A1L,LHCGR,STON1-GTF2A1Lc.1041A>C (p.Pro347=)
c.948-617A>C (n.948-617A>C)
c.3441+17076T>G (n.3441+17076T>G)
c.948-173A>C (n.948-173A>C)
c.960A>C (p.Pro320=)
c.276+17076T>G (n.276+17076T>G)
c.*220+5468A>C (n.*220+5468A>C)
c.84A>C (p.Pro28=)
c.111A>C (p.Pro37=)
c.966A>C (p.Pro322=)
c.780A>C (p.Pro260=)
c.699A>C (p.Pro233=)
c.405A>C (p.Pro135=)
c.786A>C (p.Pro262=)

Number of alleles fetched