Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687755G>ACA346743044GTF2A1L,LHCGR,STON1-GTF2A1Lc.2042C>T (p.Ser681Phe)
c.*354C>T (n.*354C>T)
c.3441+16075G>A (n.3441+16075G>A)
c.*786C>T (n.*786C>T)
c.1961C>T (p.Ser654Phe)
c.276+16075G>A (n.276+16075G>A)
c.*220+6469C>T (n.*220+6469C>T)
c.1085C>T (p.Ser362Phe)
c.1112C>T (p.Ser371Phe)
c.1967C>T (p.Ser656Phe)
c.1781C>T (p.Ser594Phe)
c.1700C>T (p.Ser567Phe)
c.1406C>T (p.Ser469Phe)
c.1787C>T (p.Ser596Phe)
 gnomAD v4
2g.48687755G>CCA346743045GTF2A1L,LHCGR,STON1-GTF2A1Lc.2042C>G (p.Ser681Cys)
c.*354C>G (n.*354C>G)
c.3441+16075G>C (n.3441+16075G>C)
c.*786C>G (n.*786C>G)
c.1961C>G (p.Ser654Cys)
c.276+16075G>C (n.276+16075G>C)
c.*220+6469C>G (n.*220+6469C>G)
c.1085C>G (p.Ser362Cys)
c.1112C>G (p.Ser371Cys)
c.1967C>G (p.Ser656Cys)
c.1781C>G (p.Ser594Cys)
c.1700C>G (p.Ser567Cys)
c.1406C>G (p.Ser469Cys)
c.1787C>G (p.Ser596Cys)
 gnomAD v4
2g.48687755G>TCA346743047GTF2A1L,LHCGR,STON1-GTF2A1Lc.2042C>A (p.Ser681Tyr)
c.*354C>A (n.*354C>A)
c.3441+16075G>T (n.3441+16075G>T)
c.*786C>A (n.*786C>A)
c.1961C>A (p.Ser654Tyr)
c.276+16075G>T (n.276+16075G>T)
c.*220+6469C>A (n.*220+6469C>A)
c.1085C>A (p.Ser362Tyr)
c.1112C>A (p.Ser371Tyr)
c.1967C>A (p.Ser656Tyr)
c.1781C>A (p.Ser594Tyr)
c.1700C>A (p.Ser567Tyr)
c.1406C>A (p.Ser469Tyr)
c.1787C>A (p.Ser596Tyr)
2g.48687756A>CCA346743052GTF2A1L,LHCGR,STON1-GTF2A1Lc.2041T>G (p.Ser681Ala)
c.*353T>G (n.*353T>G)
c.3441+16076A>C (n.3441+16076A>C)
c.*785T>G (n.*785T>G)
c.1960T>G (p.Ser654Ala)
c.276+16076A>C (n.276+16076A>C)
c.*220+6468T>G (n.*220+6468T>G)
c.1084T>G (p.Ser362Ala)
c.1111T>G (p.Ser371Ala)
c.1966T>G (p.Ser656Ala)
c.1780T>G (p.Ser594Ala)
c.1699T>G (p.Ser567Ala)
c.1405T>G (p.Ser469Ala)
c.1786T>G (p.Ser596Ala)
2g.48687756A>GCA346743055GTF2A1L,LHCGR,STON1-GTF2A1Lc.2041T>C (p.Ser681Pro)
c.*353T>C (n.*353T>C)
c.3441+16076A>G (n.3441+16076A>G)
c.*785T>C (n.*785T>C)
c.1960T>C (p.Ser654Pro)
c.276+16076A>G (n.276+16076A>G)
c.*220+6468T>C (n.*220+6468T>C)
c.1084T>C (p.Ser362Pro)
c.1111T>C (p.Ser371Pro)
c.1966T>C (p.Ser656Pro)
c.1780T>C (p.Ser594Pro)
c.1699T>C (p.Ser567Pro)
c.1405T>C (p.Ser469Pro)
c.1786T>C (p.Ser596Pro)
2g.48687756A>TCA346743051GTF2A1L,LHCGR,STON1-GTF2A1Lc.2041T>A (p.Ser681Thr)
c.*353T>A (n.*353T>A)
c.3441+16076A>T (n.3441+16076A>T)
c.*785T>A (n.*785T>A)
c.1960T>A (p.Ser654Thr)
c.276+16076A>T (n.276+16076A>T)
c.*220+6468T>A (n.*220+6468T>A)
c.1084T>A (p.Ser362Thr)
c.1111T>A (p.Ser371Thr)
c.1966T>A (p.Ser656Thr)
c.1780T>A (p.Ser594Thr)
c.1699T>A (p.Ser567Thr)
c.1405T>A (p.Ser469Thr)
c.1786T>A (p.Ser596Thr)
2g.48687757C>ACA346743056GTF2A1L,LHCGR,STON1-GTF2A1Lc.2040G>T (p.Leu680Phe)
c.*352G>T (n.*352G>T)
c.3441+16077C>A (n.3441+16077C>A)
c.*784G>T (n.*784G>T)
c.1959G>T (p.Leu653Phe)
c.276+16077C>A (n.276+16077C>A)
c.*220+6467G>T (n.*220+6467G>T)
c.1083G>T (p.Leu361Phe)
c.1110G>T (p.Leu370Phe)
c.1965G>T (p.Leu655Phe)
c.1779G>T (p.Leu593Phe)
c.1698G>T (p.Leu566Phe)
c.1404G>T (p.Leu468Phe)
c.1785G>T (p.Leu595Phe)
2g.48687757C>GCA346743058GTF2A1L,LHCGR,STON1-GTF2A1Lc.2040G>C (p.Leu680Phe)
c.*352G>C (n.*352G>C)
c.3441+16077C>G (n.3441+16077C>G)
c.*784G>C (n.*784G>C)
c.1959G>C (p.Leu653Phe)
c.276+16077C>G (n.276+16077C>G)
c.*220+6467G>C (n.*220+6467G>C)
c.1083G>C (p.Leu361Phe)
c.1110G>C (p.Leu370Phe)
c.1965G>C (p.Leu655Phe)
c.1779G>C (p.Leu593Phe)
c.1698G>C (p.Leu566Phe)
c.1404G>C (p.Leu468Phe)
c.1785G>C (p.Leu595Phe)
2g.48687757C>TCA426124954GTF2A1L,LHCGR,STON1-GTF2A1Lc.2040G>A (p.Leu680=)
c.*352G>A (n.*352G>A)
c.3441+16077C>T (n.3441+16077C>T)
c.*784G>A (n.*784G>A)
c.1959G>A (p.Leu653=)
c.276+16077C>T (n.276+16077C>T)
c.*220+6467G>A (n.*220+6467G>A)
c.1083G>A (p.Leu361=)
c.1110G>A (p.Leu370=)
c.1965G>A (p.Leu655=)
c.1779G>A (p.Leu593=)
c.1698G>A (p.Leu566=)
c.1404G>A (p.Leu468=)
c.1785G>A (p.Leu595=)
2g.48687758A>CCA346743060GTF2A1L,LHCGR,STON1-GTF2A1Lc.2039T>G (p.Leu680Trp)
c.*351T>G (n.*351T>G)
c.3441+16078A>C (n.3441+16078A>C)
c.*783T>G (n.*783T>G)
c.1958T>G (p.Leu653Trp)
c.276+16078A>C (n.276+16078A>C)
c.*220+6466T>G (n.*220+6466T>G)
c.1082T>G (p.Leu361Trp)
c.1109T>G (p.Leu370Trp)
c.1964T>G (p.Leu655Trp)
c.1778T>G (p.Leu593Trp)
c.1697T>G (p.Leu566Trp)
c.1403T>G (p.Leu468Trp)
c.1784T>G (p.Leu595Trp)
2g.48687758A>GCA346743068GTF2A1L,LHCGR,STON1-GTF2A1Lc.2039T>C (p.Leu680Ser)
c.*351T>C (n.*351T>C)
c.3441+16078A>G (n.3441+16078A>G)
c.*783T>C (n.*783T>C)
c.1958T>C (p.Leu653Ser)
c.276+16078A>G (n.276+16078A>G)
c.*220+6466T>C (n.*220+6466T>C)
c.1082T>C (p.Leu361Ser)
c.1109T>C (p.Leu370Ser)
c.1964T>C (p.Leu655Ser)
c.1778T>C (p.Leu593Ser)
c.1697T>C (p.Leu566Ser)
c.1403T>C (p.Leu468Ser)
c.1784T>C (p.Leu595Ser)
2g.48687758A>TCA346743063GTF2A1L,LHCGR,STON1-GTF2A1Lc.2039T>A (p.Leu680Ter)
c.*351T>A (n.*351T>A)
c.3441+16078A>T (n.3441+16078A>T)
c.*783T>A (n.*783T>A)
c.1958T>A (p.Leu653Ter)
c.276+16078A>T (n.276+16078A>T)
c.*220+6466T>A (n.*220+6466T>A)
c.1082T>A (p.Leu361Ter)
c.1109T>A (p.Leu370Ter)
c.1964T>A (p.Leu655Ter)
c.1778T>A (p.Leu593Ter)
c.1697T>A (p.Leu566Ter)
c.1403T>A (p.Leu468Ter)
c.1784T>A (p.Leu595Ter)
2g.48687759A=CA1248600825GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T= (p.Leu680=)
c.*350T= (n.*350T=)
c.3441+16079A= (n.3441+16079A=)
c.*782T= (n.*782T=)
c.1957T= (p.Leu653=)
c.276+16079A= (n.276+16079A=)
c.*220+6465T= (n.*220+6465T=)
c.1081T= (p.Leu361=)
c.1108T= (p.Leu370=)
c.1963T= (p.Leu655=)
c.1777T= (p.Leu593=)
c.1696T= (p.Leu566=)
c.1402T= (p.Leu468=)
c.1783T= (p.Leu595=)
2g.48687759A>CCA346743071GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T>G (p.Leu680Val)
c.*350T>G (n.*350T>G)
c.3441+16079A>C (n.3441+16079A>C)
c.*782T>G (n.*782T>G)
c.1957T>G (p.Leu653Val)
c.276+16079A>C (n.276+16079A>C)
c.*220+6465T>G (n.*220+6465T>G)
c.1081T>G (p.Leu361Val)
c.1108T>G (p.Leu370Val)
c.1963T>G (p.Leu655Val)
c.1777T>G (p.Leu593Val)
c.1696T>G (p.Leu566Val)
c.1402T>G (p.Leu468Val)
c.1783T>G (p.Leu595Val)
2g.48687759A>GCA426124959GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T>C (p.Leu680=)
c.*350T>C (n.*350T>C)
c.3441+16079A>G (n.3441+16079A>G)
c.*782T>C (n.*782T>C)
c.1957T>C (p.Leu653=)
c.276+16079A>G (n.276+16079A>G)
c.*220+6465T>C (n.*220+6465T>C)
c.1081T>C (p.Leu361=)
c.1108T>C (p.Leu370=)
c.1963T>C (p.Leu655=)
c.1777T>C (p.Leu593=)
c.1696T>C (p.Leu566=)
c.1402T>C (p.Leu468=)
c.1783T>C (p.Leu595=)
 dbSNP gnomAD v2 gnomAD v4
2g.48687759A>TCA346743074GTF2A1L,LHCGR,STON1-GTF2A1Lc.2038T>A (p.Leu680Met)
c.*350T>A (n.*350T>A)
c.3441+16079A>T (n.3441+16079A>T)
c.*782T>A (n.*782T>A)
c.1957T>A (p.Leu653Met)
c.276+16079A>T (n.276+16079A>T)
c.*220+6465T>A (n.*220+6465T>A)
c.1081T>A (p.Leu361Met)
c.1108T>A (p.Leu370Met)
c.1963T>A (p.Leu655Met)
c.1777T>A (p.Leu593Met)
c.1696T>A (p.Leu566Met)
c.1402T>A (p.Leu468Met)
c.1783T>A (p.Leu595Met)
2g.48687760C>ACA346743076GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G>T (p.Lys679Asn)
c.*349G>T (n.*349G>T)
c.3441+16080C>A (n.3441+16080C>A)
c.*781G>T (n.*781G>T)
c.1956G>T (p.Lys652Asn)
c.276+16080C>A (n.276+16080C>A)
c.*220+6464G>T (n.*220+6464G>T)
c.1080G>T (p.Lys360Asn)
c.1107G>T (p.Lys369Asn)
c.1962G>T (p.Lys654Asn)
c.1776G>T (p.Lys592Asn)
c.1695G>T (p.Lys565Asn)
c.1401G>T (p.Lys467Asn)
c.1782G>T (p.Lys594Asn)
 dbSNP gnomAD v4
2g.48687760C=CA1248600826GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G= (p.Lys679=)
c.*349G= (n.*349G=)
c.3441+16080C= (n.3441+16080C=)
c.*781G= (n.*781G=)
c.1956G= (p.Lys652=)
c.276+16080C= (n.276+16080C=)
c.*220+6464G= (n.*220+6464G=)
c.1080G= (p.Lys360=)
c.1107G= (p.Lys369=)
c.1962G= (p.Lys654=)
c.1776G= (p.Lys592=)
c.1695G= (p.Lys565=)
c.1401G= (p.Lys467=)
c.1782G= (p.Lys594=)
2g.48687760C>GCA346743078GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G>C (p.Lys679Asn)
c.*349G>C (n.*349G>C)
c.3441+16080C>G (n.3441+16080C>G)
c.*781G>C (n.*781G>C)
c.1956G>C (p.Lys652Asn)
c.276+16080C>G (n.276+16080C>G)
c.*220+6464G>C (n.*220+6464G>C)
c.1080G>C (p.Lys360Asn)
c.1107G>C (p.Lys369Asn)
c.1962G>C (p.Lys654Asn)
c.1776G>C (p.Lys592Asn)
c.1695G>C (p.Lys565Asn)
c.1401G>C (p.Lys467Asn)
c.1782G>C (p.Lys594Asn)
2g.48687760C>TCA1652942GTF2A1L,LHCGR,STON1-GTF2A1Lc.2037G>A (p.Lys679=)
c.*349G>A (n.*349G>A)
c.3441+16080C>T (n.3441+16080C>T)
c.*781G>A (n.*781G>A)
c.1956G>A (p.Lys652=)
c.276+16080C>T (n.276+16080C>T)
c.*220+6464G>A (n.*220+6464G>A)
c.1080G>A (p.Lys360=)
c.1107G>A (p.Lys369=)
c.1962G>A (p.Lys654=)
c.1776G>A (p.Lys592=)
c.1695G>A (p.Lys565=)
c.1401G>A (p.Lys467=)
c.1782G>A (p.Lys594=)
 dbSNP ExAC gnomAD v2
2g.48687761_48687763delCA645522020GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035_2037del (p.Lys679del)
c.*347_*349del (n.*347_*349del)
c.3441+16081_3441+16083del (n.3441+16081_3441+16083del)
c.*779_*781del (n.*779_*781del)
c.1954_1956del (p.Lys652del)
c.276+16081_276+16083del (n.276+16081_276+16083del)
c.*220+6462_*220+6464del (n.*220+6462_*220+6464del)
c.1078_1080del (p.Lys360del)
c.1105_1107del (p.Lys369del)
c.1960_1962del (p.Lys654del)
c.1774_1776del (p.Lys592del)
c.1693_1695del (p.Lys565del)
c.1399_1401del (p.Lys467del)
c.1780_1782del (p.Lys594del)
 COSMIC
2g.48687761T>ACA346743085GTF2A1L,LHCGR,STON1-GTF2A1Lc.2036A>T (p.Lys679Met)
c.*348A>T (n.*348A>T)
c.3441+16081T>A (n.3441+16081T>A)
c.*780A>T (n.*780A>T)
c.1955A>T (p.Lys652Met)
c.276+16081T>A (n.276+16081T>A)
c.*220+6463A>T (n.*220+6463A>T)
c.1079A>T (p.Lys360Met)
c.1106A>T (p.Lys369Met)
c.1961A>T (p.Lys654Met)
c.1775A>T (p.Lys592Met)
c.1694A>T (p.Lys565Met)
c.1400A>T (p.Lys467Met)
c.1781A>T (p.Lys594Met)
2g.48687761T>CCA346743088GTF2A1L,LHCGR,STON1-GTF2A1Lc.2036A>G (p.Lys679Arg)
c.*348A>G (n.*348A>G)
c.3441+16081T>C (n.3441+16081T>C)
c.*780A>G (n.*780A>G)
c.1955A>G (p.Lys652Arg)
c.276+16081T>C (n.276+16081T>C)
c.*220+6463A>G (n.*220+6463A>G)
c.1079A>G (p.Lys360Arg)
c.1106A>G (p.Lys369Arg)
c.1961A>G (p.Lys654Arg)
c.1775A>G (p.Lys592Arg)
c.1694A>G (p.Lys565Arg)
c.1400A>G (p.Lys467Arg)
c.1781A>G (p.Lys594Arg)
 gnomAD v4
2g.48687761T>GCA346743090GTF2A1L,LHCGR,STON1-GTF2A1Lc.2036A>C (p.Lys679Thr)
c.*348A>C (n.*348A>C)
c.3441+16081T>G (n.3441+16081T>G)
c.*780A>C (n.*780A>C)
c.1955A>C (p.Lys652Thr)
c.276+16081T>G (n.276+16081T>G)
c.*220+6463A>C (n.*220+6463A>C)
c.1079A>C (p.Lys360Thr)
c.1106A>C (p.Lys369Thr)
c.1961A>C (p.Lys654Thr)
c.1775A>C (p.Lys592Thr)
c.1694A>C (p.Lys565Thr)
c.1400A>C (p.Lys467Thr)
c.1781A>C (p.Lys594Thr)
2g.48687762T>ACA346743094GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A>T (p.Lys679Ter)
c.*347A>T (n.*347A>T)
c.3441+16082T>A (n.3441+16082T>A)
c.*779A>T (n.*779A>T)
c.1954A>T (p.Lys652Ter)
c.276+16082T>A (n.276+16082T>A)
c.*220+6462A>T (n.*220+6462A>T)
c.1078A>T (p.Lys360Ter)
c.1105A>T (p.Lys369Ter)
c.1960A>T (p.Lys654Ter)
c.1774A>T (p.Lys592Ter)
c.1693A>T (p.Lys565Ter)
c.1399A>T (p.Lys467Ter)
c.1780A>T (p.Lys594Ter)
2g.48687762T>CCA346743095GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A>G (p.Lys679Glu)
c.*347A>G (n.*347A>G)
c.3441+16082T>C (n.3441+16082T>C)
c.*779A>G (n.*779A>G)
c.1954A>G (p.Lys652Glu)
c.276+16082T>C (n.276+16082T>C)
c.*220+6462A>G (n.*220+6462A>G)
c.1078A>G (p.Lys360Glu)
c.1105A>G (p.Lys369Glu)
c.1960A>G (p.Lys654Glu)
c.1774A>G (p.Lys592Glu)
c.1693A>G (p.Lys565Glu)
c.1399A>G (p.Lys467Glu)
c.1780A>G (p.Lys594Glu)
2g.48687762T>GCA346743096GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A>C (p.Lys679Gln)
c.*347A>C (n.*347A>C)
c.3441+16082T>G (n.3441+16082T>G)
c.*779A>C (n.*779A>C)
c.1954A>C (p.Lys652Gln)
c.276+16082T>G (n.276+16082T>G)
c.*220+6462A>C (n.*220+6462A>C)
c.1078A>C (p.Lys360Gln)
c.1105A>C (p.Lys369Gln)
c.1960A>C (p.Lys654Gln)
c.1774A>C (p.Lys592Gln)
c.1693A>C (p.Lys565Gln)
c.1399A>C (p.Lys467Gln)
c.1780A>C (p.Lys594Gln)
2g.48687762T=CA1248600827GTF2A1L,LHCGR,STON1-GTF2A1Lc.2035A= (p.Lys679=)
c.*347A= (n.*347A=)
c.3441+16082T= (n.3441+16082T=)
c.*779A= (n.*779A=)
c.1954A= (p.Lys652=)
c.276+16082T= (n.276+16082T=)
c.*220+6462A= (n.*220+6462A=)
c.1078A= (p.Lys360=)
c.1105A= (p.Lys369=)
c.1960A= (p.Lys654=)
c.1774A= (p.Lys592=)
c.1693A= (p.Lys565=)
c.1399A= (p.Lys467=)
c.1780A= (p.Lys594=)
2g.48687762_48687763insACA1652943GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034_2035insT (p.Lys679Ter)
c.*346_*347insT (n.*346_*347insT)
c.3441+16082_3441+16083insA (n.3441+16082_3441+16083insA)
c.*778_*779insT (n.*778_*779insT)
c.1953_1954insT (p.Lys652Ter)
c.276+16082_276+16083insA (n.276+16082_276+16083insA)
c.*220+6461_*220+6462insT (n.*220+6461_*220+6462insT)
c.1077_1078insT (p.Lys360Ter)
c.1104_1105insT (p.Lys369Ter)
c.1959_1960insT (p.Lys654Ter)
c.1773_1774insT (p.Lys592Ter)
c.1692_1693insT (p.Lys565Ter)
c.1398_1399insT (p.Lys467Ter)
c.1779_1780insT (p.Lys594Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687763C>ACA1652944GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G>T (p.Leu678Phe)
c.*346G>T (n.*346G>T)
c.3441+16083C>A (n.3441+16083C>A)
c.*778G>T (n.*778G>T)
c.1953G>T (p.Leu651Phe)
c.276+16083C>A (n.276+16083C>A)
c.*220+6461G>T (n.*220+6461G>T)
c.1077G>T (p.Leu359Phe)
c.1104G>T (p.Leu368Phe)
c.1959G>T (p.Leu653Phe)
c.1773G>T (p.Leu591Phe)
c.1692G>T (p.Leu564Phe)
c.1398G>T (p.Leu466Phe)
c.1779G>T (p.Leu593Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687763C=CA1248600828GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G= (p.Leu678=)
c.*346G= (n.*346G=)
c.3441+16083C= (n.3441+16083C=)
c.*778G= (n.*778G=)
c.1953G= (p.Leu651=)
c.276+16083C= (n.276+16083C=)
c.*220+6461G= (n.*220+6461G=)
c.1077G= (p.Leu359=)
c.1104G= (p.Leu368=)
c.1959G= (p.Leu653=)
c.1773G= (p.Leu591=)
c.1692G= (p.Leu564=)
c.1398G= (p.Leu466=)
c.1779G= (p.Leu593=)
2g.48687763C>GCA346743098GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G>C (p.Leu678Phe)
c.*346G>C (n.*346G>C)
c.3441+16083C>G (n.3441+16083C>G)
c.*778G>C (n.*778G>C)
c.1953G>C (p.Leu651Phe)
c.276+16083C>G (n.276+16083C>G)
c.*220+6461G>C (n.*220+6461G>C)
c.1077G>C (p.Leu359Phe)
c.1104G>C (p.Leu368Phe)
c.1959G>C (p.Leu653Phe)
c.1773G>C (p.Leu591Phe)
c.1692G>C (p.Leu564Phe)
c.1398G>C (p.Leu466Phe)
c.1779G>C (p.Leu593Phe)
2g.48687763C>TCA426124968GTF2A1L,LHCGR,STON1-GTF2A1Lc.2034G>A (p.Leu678=)
c.*346G>A (n.*346G>A)
c.3441+16083C>T (n.3441+16083C>T)
c.*778G>A (n.*778G>A)
c.1953G>A (p.Leu651=)
c.276+16083C>T (n.276+16083C>T)
c.*220+6461G>A (n.*220+6461G>A)
c.1077G>A (p.Leu359=)
c.1104G>A (p.Leu368=)
c.1959G>A (p.Leu653=)
c.1773G>A (p.Leu591=)
c.1692G>A (p.Leu564=)
c.1398G>A (p.Leu466=)
c.1779G>A (p.Leu593=)
2g.48687764A>CCA346743101GTF2A1L,LHCGR,STON1-GTF2A1Lc.2033T>G (p.Leu678Trp)
c.*345T>G (n.*345T>G)
c.3441+16084A>C (n.3441+16084A>C)
c.*777T>G (n.*777T>G)
c.1952T>G (p.Leu651Trp)
c.276+16084A>C (n.276+16084A>C)
c.*220+6460T>G (n.*220+6460T>G)
c.1076T>G (p.Leu359Trp)
c.1103T>G (p.Leu368Trp)
c.1958T>G (p.Leu653Trp)
c.1772T>G (p.Leu591Trp)
c.1691T>G (p.Leu564Trp)
c.1397T>G (p.Leu466Trp)
c.1778T>G (p.Leu593Trp)
2g.48687764A>GCA346743102GTF2A1L,LHCGR,STON1-GTF2A1Lc.2033T>C (p.Leu678Ser)
c.*345T>C (n.*345T>C)
c.3441+16084A>G (n.3441+16084A>G)
c.*777T>C (n.*777T>C)
c.1952T>C (p.Leu651Ser)
c.276+16084A>G (n.276+16084A>G)
c.*220+6460T>C (n.*220+6460T>C)
c.1076T>C (p.Leu359Ser)
c.1103T>C (p.Leu368Ser)
c.1958T>C (p.Leu653Ser)
c.1772T>C (p.Leu591Ser)
c.1691T>C (p.Leu564Ser)
c.1397T>C (p.Leu466Ser)
c.1778T>C (p.Leu593Ser)
2g.48687764A>TCA346743103GTF2A1L,LHCGR,STON1-GTF2A1Lc.2033T>A (p.Leu678Ter)
c.*345T>A (n.*345T>A)
c.3441+16084A>T (n.3441+16084A>T)
c.*777T>A (n.*777T>A)
c.1952T>A (p.Leu651Ter)
c.276+16084A>T (n.276+16084A>T)
c.*220+6460T>A (n.*220+6460T>A)
c.1076T>A (p.Leu359Ter)
c.1103T>A (p.Leu368Ter)
c.1958T>A (p.Leu653Ter)
c.1772T>A (p.Leu591Ter)
c.1691T>A (p.Leu564Ter)
c.1397T>A (p.Leu466Ter)
c.1778T>A (p.Leu593Ter)
2g.48687765A>CCA346743104GTF2A1L,LHCGR,STON1-GTF2A1Lc.2032T>G (p.Leu678Val)
c.*344T>G (n.*344T>G)
c.3441+16085A>C (n.3441+16085A>C)
c.*776T>G (n.*776T>G)
c.1951T>G (p.Leu651Val)
c.276+16085A>C (n.276+16085A>C)
c.*220+6459T>G (n.*220+6459T>G)
c.1075T>G (p.Leu359Val)
c.1102T>G (p.Leu368Val)
c.1957T>G (p.Leu653Val)
c.1771T>G (p.Leu591Val)
c.1690T>G (p.Leu564Val)
c.1396T>G (p.Leu466Val)
c.1777T>G (p.Leu593Val)
2g.48687765A>GCA426124973GTF2A1L,LHCGR,STON1-GTF2A1Lc.2032T>C (p.Leu678=)
c.*344T>C (n.*344T>C)
c.3441+16085A>G (n.3441+16085A>G)
c.*776T>C (n.*776T>C)
c.1951T>C (p.Leu651=)
c.276+16085A>G (n.276+16085A>G)
c.*220+6459T>C (n.*220+6459T>C)
c.1075T>C (p.Leu359=)
c.1102T>C (p.Leu368=)
c.1957T>C (p.Leu653=)
c.1771T>C (p.Leu591=)
c.1690T>C (p.Leu564=)
c.1396T>C (p.Leu466=)
c.1777T>C (p.Leu593=)
 gnomAD v4
2g.48687765A>TCA346743105GTF2A1L,LHCGR,STON1-GTF2A1Lc.2032T>A (p.Leu678Met)
c.*344T>A (n.*344T>A)
c.3441+16085A>T (n.3441+16085A>T)
c.*776T>A (n.*776T>A)
c.1951T>A (p.Leu651Met)
c.276+16085A>T (n.276+16085A>T)
c.*220+6459T>A (n.*220+6459T>A)
c.1075T>A (p.Leu359Met)
c.1102T>A (p.Leu368Met)
c.1957T>A (p.Leu653Met)
c.1771T>A (p.Leu591Met)
c.1690T>A (p.Leu564Met)
c.1396T>A (p.Leu466Met)
c.1777T>A (p.Leu593Met)
2g.48687766G>ACA426124974GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C>T (p.Thr677=)
c.*343C>T (n.*343C>T)
c.3441+16086G>A (n.3441+16086G>A)
c.*775C>T (n.*775C>T)
c.1950C>T (p.Thr650=)
c.276+16086G>A (n.276+16086G>A)
c.*220+6458C>T (n.*220+6458C>T)
c.1074C>T (p.Thr358=)
c.1101C>T (p.Thr367=)
c.1956C>T (p.Thr652=)
c.1770C>T (p.Thr590=)
c.1689C>T (p.Thr563=)
c.1395C>T (p.Thr465=)
c.1776C>T (p.Thr592=)
2g.48687766G>CCA1652945GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C>G (p.Thr677=)
c.*343C>G (n.*343C>G)
c.3441+16086G>C (n.3441+16086G>C)
c.*775C>G (n.*775C>G)
c.1950C>G (p.Thr650=)
c.276+16086G>C (n.276+16086G>C)
c.*220+6458C>G (n.*220+6458C>G)
c.1074C>G (p.Thr358=)
c.1101C>G (p.Thr367=)
c.1956C>G (p.Thr652=)
c.1770C>G (p.Thr590=)
c.1689C>G (p.Thr563=)
c.1395C>G (p.Thr465=)
c.1776C>G (p.Thr592=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687766G=CA1248600829GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C= (p.Thr677=)
c.*343C= (n.*343C=)
c.3441+16086G= (n.3441+16086G=)
c.*775C= (n.*775C=)
c.1950C= (p.Thr650=)
c.276+16086G= (n.276+16086G=)
c.*220+6458C= (n.*220+6458C=)
c.1074C= (p.Thr358=)
c.1101C= (p.Thr367=)
c.1956C= (p.Thr652=)
c.1770C= (p.Thr590=)
c.1689C= (p.Thr563=)
c.1395C= (p.Thr465=)
c.1776C= (p.Thr592=)
2g.48687766G>TCA426124975GTF2A1L,LHCGR,STON1-GTF2A1Lc.2031C>A (p.Thr677=)
c.*343C>A (n.*343C>A)
c.3441+16086G>T (n.3441+16086G>T)
c.*775C>A (n.*775C>A)
c.1950C>A (p.Thr650=)
c.276+16086G>T (n.276+16086G>T)
c.*220+6458C>A (n.*220+6458C>A)
c.1074C>A (p.Thr358=)
c.1101C>A (p.Thr367=)
c.1956C>A (p.Thr652=)
c.1770C>A (p.Thr590=)
c.1689C>A (p.Thr563=)
c.1395C>A (p.Thr465=)
c.1776C>A (p.Thr592=)
2g.48687767G>ACA346743109GTF2A1L,LHCGR,STON1-GTF2A1Lc.2030C>T (p.Thr677Ile)
c.*342C>T (n.*342C>T)
c.3441+16087G>A (n.3441+16087G>A)
c.*774C>T (n.*774C>T)
c.1949C>T (p.Thr650Ile)
c.276+16087G>A (n.276+16087G>A)
c.*220+6457C>T (n.*220+6457C>T)
c.1073C>T (p.Thr358Ile)
c.1100C>T (p.Thr367Ile)
c.1955C>T (p.Thr652Ile)
c.1769C>T (p.Thr590Ile)
c.1688C>T (p.Thr563Ile)
c.1394C>T (p.Thr465Ile)
c.1775C>T (p.Thr592Ile)
2g.48687767G>CCA346743111GTF2A1L,LHCGR,STON1-GTF2A1Lc.2030C>G (p.Thr677Ser)
c.*342C>G (n.*342C>G)
c.3441+16087G>C (n.3441+16087G>C)
c.*774C>G (n.*774C>G)
c.1949C>G (p.Thr650Ser)
c.276+16087G>C (n.276+16087G>C)
c.*220+6457C>G (n.*220+6457C>G)
c.1073C>G (p.Thr358Ser)
c.1100C>G (p.Thr367Ser)
c.1955C>G (p.Thr652Ser)
c.1769C>G (p.Thr590Ser)
c.1688C>G (p.Thr563Ser)
c.1394C>G (p.Thr465Ser)
c.1775C>G (p.Thr592Ser)
 COSMIC
2g.48687767G>TCA346743112GTF2A1L,LHCGR,STON1-GTF2A1Lc.2030C>A (p.Thr677Asn)
c.*342C>A (n.*342C>A)
c.3441+16087G>T (n.3441+16087G>T)
c.*774C>A (n.*774C>A)
c.1949C>A (p.Thr650Asn)
c.276+16087G>T (n.276+16087G>T)
c.*220+6457C>A (n.*220+6457C>A)
c.1073C>A (p.Thr358Asn)
c.1100C>A (p.Thr367Asn)
c.1955C>A (p.Thr652Asn)
c.1769C>A (p.Thr590Asn)
c.1688C>A (p.Thr563Asn)
c.1394C>A (p.Thr465Asn)
c.1775C>A (p.Thr592Asn)
2g.48687768T>ACA346743116GTF2A1L,LHCGR,STON1-GTF2A1Lc.2029A>T (p.Thr677Ser)
c.*341A>T (n.*341A>T)
c.3441+16088T>A (n.3441+16088T>A)
c.*773A>T (n.*773A>T)
c.1948A>T (p.Thr650Ser)
c.276+16088T>A (n.276+16088T>A)
c.*220+6456A>T (n.*220+6456A>T)
c.1072A>T (p.Thr358Ser)
c.1099A>T (p.Thr367Ser)
c.1954A>T (p.Thr652Ser)
c.1768A>T (p.Thr590Ser)
c.1687A>T (p.Thr563Ser)
c.1393A>T (p.Thr465Ser)
c.1774A>T (p.Thr592Ser)
 gnomAD v4
2g.48687768T>CCA346743122GTF2A1L,LHCGR,STON1-GTF2A1Lc.2029A>G (p.Thr677Ala)
c.*341A>G (n.*341A>G)
c.3441+16088T>C (n.3441+16088T>C)
c.*773A>G (n.*773A>G)
c.1948A>G (p.Thr650Ala)
c.276+16088T>C (n.276+16088T>C)
c.*220+6456A>G (n.*220+6456A>G)
c.1072A>G (p.Thr358Ala)
c.1099A>G (p.Thr367Ala)
c.1954A>G (p.Thr652Ala)
c.1768A>G (p.Thr590Ala)
c.1687A>G (p.Thr563Ala)
c.1393A>G (p.Thr465Ala)
c.1774A>G (p.Thr592Ala)
 dbSNP
2g.48687768T>GCA346743124GTF2A1L,LHCGR,STON1-GTF2A1Lc.2029A>C (p.Thr677Pro)
c.*341A>C (n.*341A>C)
c.3441+16088T>G (n.3441+16088T>G)
c.*773A>C (n.*773A>C)
c.1948A>C (p.Thr650Pro)
c.276+16088T>G (n.276+16088T>G)
c.*220+6456A>C (n.*220+6456A>C)
c.1072A>C (p.Thr358Pro)
c.1099A>C (p.Thr367Pro)
c.1954A>C (p.Thr652Pro)
c.1768A>C (p.Thr590Pro)
c.1687A>C (p.Thr563Pro)
c.1393A>C (p.Thr465Pro)
c.1774A>C (p.Thr592Pro)
2g.48687769G>ACA46752464GTF2A1L,LHCGR,STON1-GTF2A1Lc.2028C>T (p.Ser676=)
c.*340C>T (n.*340C>T)
c.3441+16089G>A (n.3441+16089G>A)
c.*772C>T (n.*772C>T)
c.1947C>T (p.Ser649=)
c.276+16089G>A (n.276+16089G>A)
c.*220+6455C>T (n.*220+6455C>T)
c.1071C>T (p.Ser357=)
c.1098C>T (p.Ser366=)
c.1953C>T (p.Ser651=)
c.1767C>T (p.Ser589=)
c.1686C>T (p.Ser562=)
c.1392C>T (p.Ser464=)
c.1773C>T (p.Ser591=)
 dbSNP gnomAD v4 COSMIC

Number of alleles fetched