Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688076A>CCA346744979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1721T>G (p.Leu574Arg)
c.*33T>G (n.*33T>G)
c.3441+16396A>C (n.3441+16396A>C)
c.*465T>G (n.*465T>G)
c.1640T>G (p.Leu547Arg)
c.276+16396A>C (n.276+16396A>C)
c.*220+6148T>G (n.*220+6148T>G)
c.764T>G (p.Leu255Arg)
c.791T>G (p.Leu264Arg)
c.1646T>G (p.Leu549Arg)
c.1460T>G (p.Leu487Arg)
c.1379T>G (p.Leu460Arg)
c.1085T>G (p.Leu362Arg)
c.1466T>G (p.Leu489Arg)
2g.48688076A>GCA346744982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1721T>C (p.Leu574Pro)
c.*33T>C (n.*33T>C)
c.3441+16396A>G (n.3441+16396A>G)
c.*465T>C (n.*465T>C)
c.1640T>C (p.Leu547Pro)
c.276+16396A>G (n.276+16396A>G)
c.*220+6148T>C (n.*220+6148T>C)
c.764T>C (p.Leu255Pro)
c.791T>C (p.Leu264Pro)
c.1646T>C (p.Leu549Pro)
c.1460T>C (p.Leu487Pro)
c.1379T>C (p.Leu460Pro)
c.1085T>C (p.Leu362Pro)
c.1466T>C (p.Leu489Pro)
2g.48688076A>TCA346744996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1721T>A (p.Leu574His)
c.*33T>A (n.*33T>A)
c.3441+16396A>T (n.3441+16396A>T)
c.*465T>A (n.*465T>A)
c.1640T>A (p.Leu547His)
c.276+16396A>T (n.276+16396A>T)
c.*220+6148T>A (n.*220+6148T>A)
c.764T>A (p.Leu255His)
c.791T>A (p.Leu264His)
c.1646T>A (p.Leu549His)
c.1460T>A (p.Leu487His)
c.1379T>A (p.Leu460His)
c.1085T>A (p.Leu362His)
c.1466T>A (p.Leu489His)
2g.48688077G>ACA346744998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C>T (p.Leu574Phe)
c.*32C>T (n.*32C>T)
c.3441+16397G>A (n.3441+16397G>A)
c.*464C>T (n.*464C>T)
c.1639C>T (p.Leu547Phe)
c.276+16397G>A (n.276+16397G>A)
c.*220+6147C>T (n.*220+6147C>T)
c.763C>T (p.Leu255Phe)
c.790C>T (p.Leu264Phe)
c.1645C>T (p.Leu549Phe)
c.1459C>T (p.Leu487Phe)
c.1378C>T (p.Leu460Phe)
c.1084C>T (p.Leu362Phe)
c.1465C>T (p.Leu489Phe)
 COSMIC
2g.48688077G>CCA346744999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C>G (p.Leu574Val)
c.*32C>G (n.*32C>G)
c.3441+16397G>C (n.3441+16397G>C)
c.*464C>G (n.*464C>G)
c.1639C>G (p.Leu547Val)
c.276+16397G>C (n.276+16397G>C)
c.*220+6147C>G (n.*220+6147C>G)
c.763C>G (p.Leu255Val)
c.790C>G (p.Leu264Val)
c.1645C>G (p.Leu549Val)
c.1459C>G (p.Leu487Val)
c.1378C>G (p.Leu460Val)
c.1084C>G (p.Leu362Val)
c.1465C>G (p.Leu489Val)
 dbSNP gnomAD v2 gnomAD v4
2g.48688077G=CA1248600978GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C= (p.Leu574=)
c.*32C= (n.*32C=)
c.3441+16397G= (n.3441+16397G=)
c.*464C= (n.*464C=)
c.1639C= (p.Leu547=)
c.276+16397G= (n.276+16397G=)
c.*220+6147C= (n.*220+6147C=)
c.763C= (p.Leu255=)
c.790C= (p.Leu264=)
c.1645C= (p.Leu549=)
c.1459C= (p.Leu487=)
c.1378C= (p.Leu460=)
c.1084C= (p.Leu362=)
c.1465C= (p.Leu489=)
2g.48688077G>TCA346745000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1720C>A (p.Leu574Ile)
c.*32C>A (n.*32C>A)
c.3441+16397G>T (n.3441+16397G>T)
c.*464C>A (n.*464C>A)
c.1639C>A (p.Leu547Ile)
c.276+16397G>T (n.276+16397G>T)
c.*220+6147C>A (n.*220+6147C>A)
c.763C>A (p.Leu255Ile)
c.790C>A (p.Leu264Ile)
c.1645C>A (p.Leu549Ile)
c.1459C>A (p.Leu487Ile)
c.1378C>A (p.Leu460Ile)
c.1084C>A (p.Leu362Ile)
c.1465C>A (p.Leu489Ile)
2g.48688078G>ACA426124941GTF2A1L,LHCGR,STON1-GTF2A1Lc.1719C>T (p.Ile573=)
c.*31C>T (n.*31C>T)
c.3441+16398G>A (n.3441+16398G>A)
c.*463C>T (n.*463C>T)
c.1638C>T (p.Ile546=)
c.276+16398G>A (n.276+16398G>A)
c.*220+6146C>T (n.*220+6146C>T)
c.762C>T (p.Ile254=)
c.789C>T (p.Ile263=)
c.1644C>T (p.Ile548=)
c.1458C>T (p.Ile486=)
c.1377C>T (p.Ile459=)
c.1083C>T (p.Ile361=)
c.1464C>T (p.Ile488=)
2g.48688078G>CCA346745002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1719C>G (p.Ile573Met)
c.*31C>G (n.*31C>G)
c.3441+16398G>C (n.3441+16398G>C)
c.*463C>G (n.*463C>G)
c.1638C>G (p.Ile546Met)
c.276+16398G>C (n.276+16398G>C)
c.*220+6146C>G (n.*220+6146C>G)
c.762C>G (p.Ile254Met)
c.789C>G (p.Ile263Met)
c.1644C>G (p.Ile548Met)
c.1458C>G (p.Ile486Met)
c.1377C>G (p.Ile459Met)
c.1083C>G (p.Ile361Met)
c.1464C>G (p.Ile488Met)
2g.48688078G>TCA426124943GTF2A1L,LHCGR,STON1-GTF2A1Lc.1719C>A (p.Ile573=)
c.*31C>A (n.*31C>A)
c.3441+16398G>T (n.3441+16398G>T)
c.*463C>A (n.*463C>A)
c.1638C>A (p.Ile546=)
c.276+16398G>T (n.276+16398G>T)
c.*220+6146C>A (n.*220+6146C>A)
c.762C>A (p.Ile254=)
c.789C>A (p.Ile263=)
c.1644C>A (p.Ile548=)
c.1458C>A (p.Ile486=)
c.1377C>A (p.Ile459=)
c.1083C>A (p.Ile361=)
c.1464C>A (p.Ile488=)
2g.48688079A=CA1248600979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T= (p.Ile573=)
c.*30T= (n.*30T=)
c.3441+16399A= (n.3441+16399A=)
c.*462T= (n.*462T=)
c.1637T= (p.Ile546=)
c.276+16399A= (n.276+16399A=)
c.*220+6145T= (n.*220+6145T=)
c.761T= (p.Ile254=)
c.788T= (p.Ile263=)
c.1643T= (p.Ile548=)
c.1457T= (p.Ile486=)
c.1376T= (p.Ile459=)
c.1082T= (p.Ile361=)
c.1463T= (p.Ile488=)
2g.48688079A>CCA346745008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T>G (p.Ile573Ser)
c.*30T>G (n.*30T>G)
c.3441+16399A>C (n.3441+16399A>C)
c.*462T>G (n.*462T>G)
c.1637T>G (p.Ile546Ser)
c.276+16399A>C (n.276+16399A>C)
c.*220+6145T>G (n.*220+6145T>G)
c.761T>G (p.Ile254Ser)
c.788T>G (p.Ile263Ser)
c.1643T>G (p.Ile548Ser)
c.1457T>G (p.Ile486Ser)
c.1376T>G (p.Ile459Ser)
c.1082T>G (p.Ile361Ser)
c.1463T>G (p.Ile488Ser)
2g.48688079A>GCA346745011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T>C (p.Ile573Thr)
c.*30T>C (n.*30T>C)
c.3441+16399A>G (n.3441+16399A>G)
c.*462T>C (n.*462T>C)
c.1637T>C (p.Ile546Thr)
c.276+16399A>G (n.276+16399A>G)
c.*220+6145T>C (n.*220+6145T>C)
c.761T>C (p.Ile254Thr)
c.788T>C (p.Ile263Thr)
c.1643T>C (p.Ile548Thr)
c.1457T>C (p.Ile486Thr)
c.1376T>C (p.Ile459Thr)
c.1082T>C (p.Ile361Thr)
c.1463T>C (p.Ile488Thr)
2g.48688079A>TCA346745006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1718T>A (p.Ile573Asn)
c.*30T>A (n.*30T>A)
c.3441+16399A>T (n.3441+16399A>T)
c.*462T>A (n.*462T>A)
c.1637T>A (p.Ile546Asn)
c.276+16399A>T (n.276+16399A>T)
c.*220+6145T>A (n.*220+6145T>A)
c.761T>A (p.Ile254Asn)
c.788T>A (p.Ile263Asn)
c.1643T>A (p.Ile548Asn)
c.1457T>A (p.Ile486Asn)
c.1376T>A (p.Ile459Asn)
c.1082T>A (p.Ile361Asn)
c.1463T>A (p.Ile488Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688082_48688087delCA2658992080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713_1718del (p.Met571_Ala572del)
c.*25_*30del (n.*25_*30del)
c.3441+16402_3441+16407del (n.3441+16402_3441+16407del)
c.*457_*462del (n.*457_*462del)
c.1632_1637del (p.Met544_Ala545del)
c.276+16402_276+16407del (n.276+16402_276+16407del)
c.*220+6140_*220+6145del (n.*220+6140_*220+6145del)
c.756_761del (p.Met252_Ala253del)
c.783_788del (p.Met261_Ala262del)
c.1638_1643del (p.Met546_Ala547del)
c.1452_1457del (p.Met484_Ala485del)
c.1371_1376del (p.Met457_Ala458del)
c.1077_1082del (p.Met359_Ala360del)
c.1458_1463del (p.Met486_Ala487del)
 gnomAD v4
2g.48688080T>ACA346745017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A>T (p.Ile573Phe)
c.*29A>T (n.*29A>T)
c.3441+16400T>A (n.3441+16400T>A)
c.*461A>T (n.*461A>T)
c.1636A>T (p.Ile546Phe)
c.276+16400T>A (n.276+16400T>A)
c.*220+6144A>T (n.*220+6144A>T)
c.760A>T (p.Ile254Phe)
c.787A>T (p.Ile263Phe)
c.1642A>T (p.Ile548Phe)
c.1456A>T (p.Ile486Phe)
c.1375A>T (p.Ile459Phe)
c.1081A>T (p.Ile361Phe)
c.1462A>T (p.Ile488Phe)
2g.48688080T>CCA346745015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A>G (p.Ile573Val)
c.*29A>G (n.*29A>G)
c.3441+16400T>C (n.3441+16400T>C)
c.*461A>G (n.*461A>G)
c.1636A>G (p.Ile546Val)
c.276+16400T>C (n.276+16400T>C)
c.*220+6144A>G (n.*220+6144A>G)
c.760A>G (p.Ile254Val)
c.787A>G (p.Ile263Val)
c.1642A>G (p.Ile548Val)
c.1456A>G (p.Ile486Val)
c.1375A>G (p.Ile459Val)
c.1081A>G (p.Ile361Val)
c.1462A>G (p.Ile488Val)
 dbSNP gnomAD v4
2g.48688080T>GCA346745019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A>C (p.Ile573Leu)
c.*29A>C (n.*29A>C)
c.3441+16400T>G (n.3441+16400T>G)
c.*461A>C (n.*461A>C)
c.1636A>C (p.Ile546Leu)
c.276+16400T>G (n.276+16400T>G)
c.*220+6144A>C (n.*220+6144A>C)
c.760A>C (p.Ile254Leu)
c.787A>C (p.Ile263Leu)
c.1642A>C (p.Ile548Leu)
c.1456A>C (p.Ile486Leu)
c.1375A>C (p.Ile459Leu)
c.1081A>C (p.Ile361Leu)
c.1462A>C (p.Ile488Leu)
2g.48688080T=CA1248600980GTF2A1L,LHCGR,STON1-GTF2A1Lc.1717A= (p.Ile573=)
c.*29A= (n.*29A=)
c.3441+16400T= (n.3441+16400T=)
c.*461A= (n.*461A=)
c.1636A= (p.Ile546=)
c.276+16400T= (n.276+16400T=)
c.*220+6144A= (n.*220+6144A=)
c.760A= (p.Ile254=)
c.787A= (p.Ile263=)
c.1642A= (p.Ile548=)
c.1456A= (p.Ile486=)
c.1375A= (p.Ile459=)
c.1081A= (p.Ile361=)
c.1462A= (p.Ile488=)
2g.48688081T>ACA426124945GTF2A1L,LHCGR,STON1-GTF2A1Lc.1716A>T (p.Ala572=)
c.*28A>T (n.*28A>T)
c.3441+16401T>A (n.3441+16401T>A)
c.*460A>T (n.*460A>T)
c.1635A>T (p.Ala545=)
c.276+16401T>A (n.276+16401T>A)
c.*220+6143A>T (n.*220+6143A>T)
c.759A>T (p.Ala253=)
c.786A>T (p.Ala262=)
c.1641A>T (p.Ala547=)
c.1455A>T (p.Ala485=)
c.1374A>T (p.Ala458=)
c.1080A>T (p.Ala360=)
c.1461A>T (p.Ala487=)
2g.48688081T>CCA426124946GTF2A1L,LHCGR,STON1-GTF2A1Lc.1716A>G (p.Ala572=)
c.*28A>G (n.*28A>G)
c.3441+16401T>C (n.3441+16401T>C)
c.*460A>G (n.*460A>G)
c.1635A>G (p.Ala545=)
c.276+16401T>C (n.276+16401T>C)
c.*220+6143A>G (n.*220+6143A>G)
c.759A>G (p.Ala253=)
c.786A>G (p.Ala262=)
c.1641A>G (p.Ala547=)
c.1455A>G (p.Ala485=)
c.1374A>G (p.Ala458=)
c.1080A>G (p.Ala360=)
c.1461A>G (p.Ala487=)
2g.48688081T>GCA426124947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1716A>C (p.Ala572=)
c.*28A>C (n.*28A>C)
c.3441+16401T>G (n.3441+16401T>G)
c.*460A>C (n.*460A>C)
c.1635A>C (p.Ala545=)
c.276+16401T>G (n.276+16401T>G)
c.*220+6143A>C (n.*220+6143A>C)
c.759A>C (p.Ala253=)
c.786A>C (p.Ala262=)
c.1641A>C (p.Ala547=)
c.1455A>C (p.Ala485=)
c.1374A>C (p.Ala458=)
c.1080A>C (p.Ala360=)
c.1461A>C (p.Ala487=)
2g.48688082G>ACA123920GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C>T (p.Ala572Val)
c.*27C>T (n.*27C>T)
c.3441+16402G>A (n.3441+16402G>A)
c.*459C>T (n.*459C>T)
c.1634C>T (p.Ala545Val)
c.276+16402G>A (n.276+16402G>A)
c.*220+6142C>T (n.*220+6142C>T)
c.758C>T (p.Ala253Val)
c.785C>T (p.Ala262Val)
c.1640C>T (p.Ala547Val)
c.1454C>T (p.Ala485Val)
c.1373C>T (p.Ala458Val)
c.1079C>T (p.Ala360Val)
c.1460C>T (p.Ala487Val)
 ClinVar dbSNP gnomAD v4
2g.48688082G>CCA346745025GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C>G (p.Ala572Gly)
c.*27C>G (n.*27C>G)
c.3441+16402G>C (n.3441+16402G>C)
c.*459C>G (n.*459C>G)
c.1634C>G (p.Ala545Gly)
c.276+16402G>C (n.276+16402G>C)
c.*220+6142C>G (n.*220+6142C>G)
c.758C>G (p.Ala253Gly)
c.785C>G (p.Ala262Gly)
c.1640C>G (p.Ala547Gly)
c.1454C>G (p.Ala485Gly)
c.1373C>G (p.Ala458Gly)
c.1079C>G (p.Ala360Gly)
c.1460C>G (p.Ala487Gly)
 dbSNP
2g.48688082G=CA1248600981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C= (p.Ala572=)
c.*27C= (n.*27C=)
c.3441+16402G= (n.3441+16402G=)
c.*459C= (n.*459C=)
c.1634C= (p.Ala545=)
c.276+16402G= (n.276+16402G=)
c.*220+6142C= (n.*220+6142C=)
c.758C= (p.Ala253=)
c.785C= (p.Ala262=)
c.1640C= (p.Ala547=)
c.1454C= (p.Ala485=)
c.1373C= (p.Ala458=)
c.1079C= (p.Ala360=)
c.1460C= (p.Ala487=)
2g.48688082G>TCA346745023GTF2A1L,LHCGR,STON1-GTF2A1Lc.1715C>A (p.Ala572Glu)
c.*27C>A (n.*27C>A)
c.3441+16402G>T (n.3441+16402G>T)
c.*459C>A (n.*459C>A)
c.1634C>A (p.Ala545Glu)
c.276+16402G>T (n.276+16402G>T)
c.*220+6142C>A (n.*220+6142C>A)
c.758C>A (p.Ala253Glu)
c.785C>A (p.Ala262Glu)
c.1640C>A (p.Ala547Glu)
c.1454C>A (p.Ala485Glu)
c.1373C>A (p.Ala458Glu)
c.1079C>A (p.Ala360Glu)
c.1460C>A (p.Ala487Glu)
2g.48688083C>ACA346745026GTF2A1L,LHCGR,STON1-GTF2A1Lc.1714G>T (p.Ala572Ser)
c.*26G>T (n.*26G>T)
c.3441+16403C>A (n.3441+16403C>A)
c.*458G>T (n.*458G>T)
c.1633G>T (p.Ala545Ser)
c.276+16403C>A (n.276+16403C>A)
c.*220+6141G>T (n.*220+6141G>T)
c.757G>T (p.Ala253Ser)
c.784G>T (p.Ala262Ser)
c.1639G>T (p.Ala547Ser)
c.1453G>T (p.Ala485Ser)
c.1372G>T (p.Ala458Ser)
c.1078G>T (p.Ala360Ser)
c.1459G>T (p.Ala487Ser)
2g.48688083C>GCA346745027GTF2A1L,LHCGR,STON1-GTF2A1Lc.1714G>C (p.Ala572Pro)
c.*26G>C (n.*26G>C)
c.3441+16403C>G (n.3441+16403C>G)
c.*458G>C (n.*458G>C)
c.1633G>C (p.Ala545Pro)
c.276+16403C>G (n.276+16403C>G)
c.*220+6141G>C (n.*220+6141G>C)
c.757G>C (p.Ala253Pro)
c.784G>C (p.Ala262Pro)
c.1639G>C (p.Ala547Pro)
c.1453G>C (p.Ala485Pro)
c.1372G>C (p.Ala458Pro)
c.1078G>C (p.Ala360Pro)
c.1459G>C (p.Ala487Pro)
2g.48688083C>TCA346745028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1714G>A (p.Ala572Thr)
c.*26G>A (n.*26G>A)
c.3441+16403C>T (n.3441+16403C>T)
c.*458G>A (n.*458G>A)
c.1633G>A (p.Ala545Thr)
c.276+16403C>T (n.276+16403C>T)
c.*220+6141G>A (n.*220+6141G>A)
c.757G>A (p.Ala253Thr)
c.784G>A (p.Ala262Thr)
c.1639G>A (p.Ala547Thr)
c.1453G>A (p.Ala485Thr)
c.1372G>A (p.Ala458Thr)
c.1078G>A (p.Ala360Thr)
c.1459G>A (p.Ala487Thr)
2g.48688084C>ACA346745029GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>T (p.Met571Ile)
c.*25G>T (n.*25G>T)
c.3441+16404C>A (n.3441+16404C>A)
c.*457G>T (n.*457G>T)
c.1632G>T (p.Met544Ile)
c.276+16404C>A (n.276+16404C>A)
c.*220+6140G>T (n.*220+6140G>T)
c.756G>T (p.Met252Ile)
c.783G>T (p.Met261Ile)
c.1638G>T (p.Met546Ile)
c.1452G>T (p.Met484Ile)
c.1371G>T (p.Met457Ile)
c.1077G>T (p.Met359Ile)
c.1458G>T (p.Met486Ile)
 ClinVar dbSNP
2g.48688084C=CA1248600982GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G= (p.Met571=)
c.*25G= (n.*25G=)
c.3441+16404C= (n.3441+16404C=)
c.*457G= (n.*457G=)
c.1632G= (p.Met544=)
c.276+16404C= (n.276+16404C=)
c.*220+6140G= (n.*220+6140G=)
c.756G= (p.Met252=)
c.783G= (p.Met261=)
c.1638G= (p.Met546=)
c.1452G= (p.Met484=)
c.1371G= (p.Met457=)
c.1077G= (p.Met359=)
c.1458G= (p.Met486=)
2g.48688084C>GCA346745030GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>C (p.Met571Ile)
c.*25G>C (n.*25G>C)
c.3441+16404C>G (n.3441+16404C>G)
c.*457G>C (n.*457G>C)
c.1632G>C (p.Met544Ile)
c.276+16404C>G (n.276+16404C>G)
c.*220+6140G>C (n.*220+6140G>C)
c.756G>C (p.Met252Ile)
c.783G>C (p.Met261Ile)
c.1638G>C (p.Met546Ile)
c.1452G>C (p.Met484Ile)
c.1371G>C (p.Met457Ile)
c.1077G>C (p.Met359Ile)
c.1458G>C (p.Met486Ile)
2g.48688084C>TCA123917GTF2A1L,LHCGR,STON1-GTF2A1Lc.1713G>A (p.Met571Ile)
c.*25G>A (n.*25G>A)
c.3441+16404C>T (n.3441+16404C>T)
c.*457G>A (n.*457G>A)
c.1632G>A (p.Met544Ile)
c.276+16404C>T (n.276+16404C>T)
c.*220+6140G>A (n.*220+6140G>A)
c.756G>A (p.Met252Ile)
c.783G>A (p.Met261Ile)
c.1638G>A (p.Met546Ile)
c.1452G>A (p.Met484Ile)
c.1371G>A (p.Met457Ile)
c.1077G>A (p.Met359Ile)
c.1458G>A (p.Met486Ile)
 ClinVar dbSNP
2g.48688085A=CA1248600983GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T= (p.Met571=)
c.*24T= (n.*24T=)
c.3441+16405A= (n.3441+16405A=)
c.*456T= (n.*456T=)
c.1631T= (p.Met544=)
c.276+16405A= (n.276+16405A=)
c.*220+6139T= (n.*220+6139T=)
c.755T= (p.Met252=)
c.782T= (p.Met261=)
c.1637T= (p.Met546=)
c.1451T= (p.Met484=)
c.1370T= (p.Met457=)
c.1076T= (p.Met359=)
c.1457T= (p.Met486=)
2g.48688085A>CCA346745037GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>G (p.Met571Arg)
c.*24T>G (n.*24T>G)
c.3441+16405A>C (n.3441+16405A>C)
c.*456T>G (n.*456T>G)
c.1631T>G (p.Met544Arg)
c.276+16405A>C (n.276+16405A>C)
c.*220+6139T>G (n.*220+6139T>G)
c.755T>G (p.Met252Arg)
c.782T>G (p.Met261Arg)
c.1637T>G (p.Met546Arg)
c.1451T>G (p.Met484Arg)
c.1370T>G (p.Met457Arg)
c.1076T>G (p.Met359Arg)
c.1457T>G (p.Met486Arg)
2g.48688085A>GCA346745032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>C (p.Met571Thr)
c.*24T>C (n.*24T>C)
c.3441+16405A>G (n.3441+16405A>G)
c.*456T>C (n.*456T>C)
c.1631T>C (p.Met544Thr)
c.276+16405A>G (n.276+16405A>G)
c.*220+6139T>C (n.*220+6139T>C)
c.755T>C (p.Met252Thr)
c.782T>C (p.Met261Thr)
c.1637T>C (p.Met546Thr)
c.1451T>C (p.Met484Thr)
c.1370T>C (p.Met457Thr)
c.1076T>C (p.Met359Thr)
c.1457T>C (p.Met486Thr)
 dbSNP gnomAD v4 COSMIC
2g.48688085A>TCA346745033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1712T>A (p.Met571Lys)
c.*24T>A (n.*24T>A)
c.3441+16405A>T (n.3441+16405A>T)
c.*456T>A (n.*456T>A)
c.1631T>A (p.Met544Lys)
c.276+16405A>T (n.276+16405A>T)
c.*220+6139T>A (n.*220+6139T>A)
c.755T>A (p.Met252Lys)
c.782T>A (p.Met261Lys)
c.1637T>A (p.Met546Lys)
c.1451T>A (p.Met484Lys)
c.1370T>A (p.Met457Lys)
c.1076T>A (p.Met359Lys)
c.1457T>A (p.Met486Lys)
2g.48688086T>ACA346745039GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>T (p.Met571Leu)
c.*23A>T (n.*23A>T)
c.3441+16406T>A (n.3441+16406T>A)
c.*455A>T (n.*455A>T)
c.1630A>T (p.Met544Leu)
c.276+16406T>A (n.276+16406T>A)
c.*220+6138A>T (n.*220+6138A>T)
c.754A>T (p.Met252Leu)
c.781A>T (p.Met261Leu)
c.1636A>T (p.Met546Leu)
c.1450A>T (p.Met484Leu)
c.1369A>T (p.Met457Leu)
c.1075A>T (p.Met359Leu)
c.1456A>T (p.Met486Leu)
2g.48688086T>CCA346745040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>G (p.Met571Val)
c.*23A>G (n.*23A>G)
c.3441+16406T>C (n.3441+16406T>C)
c.*455A>G (n.*455A>G)
c.1630A>G (p.Met544Val)
c.276+16406T>C (n.276+16406T>C)
c.*220+6138A>G (n.*220+6138A>G)
c.754A>G (p.Met252Val)
c.781A>G (p.Met261Val)
c.1636A>G (p.Met546Val)
c.1450A>G (p.Met484Val)
c.1369A>G (p.Met457Val)
c.1075A>G (p.Met359Val)
c.1456A>G (p.Met486Val)
2g.48688086T>GCA346745044GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711A>C (p.Met571Leu)
c.*23A>C (n.*23A>C)
c.3441+16406T>G (n.3441+16406T>G)
c.*455A>C (n.*455A>C)
c.1630A>C (p.Met544Leu)
c.276+16406T>G (n.276+16406T>G)
c.*220+6138A>C (n.*220+6138A>C)
c.754A>C (p.Met252Leu)
c.781A>C (p.Met261Leu)
c.1636A>C (p.Met546Leu)
c.1450A>C (p.Met484Leu)
c.1369A>C (p.Met457Leu)
c.1075A>C (p.Met359Leu)
c.1456A>C (p.Met486Leu)
2g.48688089delCA2658992081GTF2A1L,LHCGR,STON1-GTF2A1Lc.1711del (p.Met571TrpfsTer?)
c.*23del (n.*23del)
c.3441+16409del (n.3441+16409del)
c.*455del (n.*455del)
c.1630del (p.Met544TrpfsTer?)
c.276+16409del (n.276+16409del)
c.*220+6138del (n.*220+6138del)
c.754del (p.Met252TrpfsTer?)
c.781del (p.Met261TrpfsTer?)
c.1636del (p.Met546TrpfsTer?)
c.1450del (p.Met484TrpfsTer?)
c.1369del (p.Met457TrpfsTer?)
c.1075del (p.Met359TrpfsTer?)
c.1456del (p.Met486TrpfsTer?)
 gnomAD v4
2g.48688087T>ACA346745049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>T (p.Lys570Asn)
c.*22A>T (n.*22A>T)
c.3441+16407T>A (n.3441+16407T>A)
c.*454A>T (n.*454A>T)
c.1629A>T (p.Lys543Asn)
c.276+16407T>A (n.276+16407T>A)
c.*220+6137A>T (n.*220+6137A>T)
c.753A>T (p.Lys251Asn)
c.780A>T (p.Lys260Asn)
c.1635A>T (p.Lys545Asn)
c.1449A>T (p.Lys483Asn)
c.1368A>T (p.Lys456Asn)
c.1074A>T (p.Lys358Asn)
c.1455A>T (p.Lys485Asn)
 gnomAD v4
2g.48688087T>CCA426124953GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>G (p.Lys570=)
c.*22A>G (n.*22A>G)
c.3441+16407T>C (n.3441+16407T>C)
c.*454A>G (n.*454A>G)
c.1629A>G (p.Lys543=)
c.276+16407T>C (n.276+16407T>C)
c.*220+6137A>G (n.*220+6137A>G)
c.753A>G (p.Lys251=)
c.780A>G (p.Lys260=)
c.1635A>G (p.Lys545=)
c.1449A>G (p.Lys483=)
c.1368A>G (p.Lys456=)
c.1074A>G (p.Lys358=)
c.1455A>G (p.Lys485=)
2g.48688087T>GCA346745051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1710A>C (p.Lys570Asn)
c.*22A>C (n.*22A>C)
c.3441+16407T>G (n.3441+16407T>G)
c.*454A>C (n.*454A>C)
c.1629A>C (p.Lys543Asn)
c.276+16407T>G (n.276+16407T>G)
c.*220+6137A>C (n.*220+6137A>C)
c.753A>C (p.Lys251Asn)
c.780A>C (p.Lys260Asn)
c.1635A>C (p.Lys545Asn)
c.1449A>C (p.Lys483Asn)
c.1368A>C (p.Lys456Asn)
c.1074A>C (p.Lys358Asn)
c.1455A>C (p.Lys485Asn)
2g.48688088T>ACA346745052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>T (p.Lys570Ile)
c.*21A>T (n.*21A>T)
c.3441+16408T>A (n.3441+16408T>A)
c.*453A>T (n.*453A>T)
c.1628A>T (p.Lys543Ile)
c.276+16408T>A (n.276+16408T>A)
c.*220+6136A>T (n.*220+6136A>T)
c.752A>T (p.Lys251Ile)
c.779A>T (p.Lys260Ile)
c.1634A>T (p.Lys545Ile)
c.1448A>T (p.Lys483Ile)
c.1367A>T (p.Lys456Ile)
c.1073A>T (p.Lys358Ile)
c.1454A>T (p.Lys485Ile)
2g.48688088T>CCA346745056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>G (p.Lys570Arg)
c.*21A>G (n.*21A>G)
c.3441+16408T>C (n.3441+16408T>C)
c.*453A>G (n.*453A>G)
c.1628A>G (p.Lys543Arg)
c.276+16408T>C (n.276+16408T>C)
c.*220+6136A>G (n.*220+6136A>G)
c.752A>G (p.Lys251Arg)
c.779A>G (p.Lys260Arg)
c.1634A>G (p.Lys545Arg)
c.1448A>G (p.Lys483Arg)
c.1367A>G (p.Lys456Arg)
c.1073A>G (p.Lys358Arg)
c.1454A>G (p.Lys485Arg)
2g.48688088T>GCA346745054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1709A>C (p.Lys570Thr)
c.*21A>C (n.*21A>C)
c.3441+16408T>G (n.3441+16408T>G)
c.*453A>C (n.*453A>C)
c.1628A>C (p.Lys543Thr)
c.276+16408T>G (n.276+16408T>G)
c.*220+6136A>C (n.*220+6136A>C)
c.752A>C (p.Lys251Thr)
c.779A>C (p.Lys260Thr)
c.1634A>C (p.Lys545Thr)
c.1448A>C (p.Lys483Thr)
c.1367A>C (p.Lys456Thr)
c.1073A>C (p.Lys358Thr)
c.1454A>C (p.Lys485Thr)
2g.48688089T>ACA346745057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>T (p.Lys570Ter)
c.*20A>T (n.*20A>T)
c.3441+16409T>A (n.3441+16409T>A)
c.*452A>T (n.*452A>T)
c.1627A>T (p.Lys543Ter)
c.276+16409T>A (n.276+16409T>A)
c.*220+6135A>T (n.*220+6135A>T)
c.751A>T (p.Lys251Ter)
c.778A>T (p.Lys260Ter)
c.1633A>T (p.Lys545Ter)
c.1447A>T (p.Lys483Ter)
c.1366A>T (p.Lys456Ter)
c.1072A>T (p.Lys358Ter)
c.1453A>T (p.Lys485Ter)
 dbSNP
2g.48688089T>CCA346745059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>G (p.Lys570Glu)
c.*20A>G (n.*20A>G)
c.3441+16409T>C (n.3441+16409T>C)
c.*452A>G (n.*452A>G)
c.1627A>G (p.Lys543Glu)
c.276+16409T>C (n.276+16409T>C)
c.*220+6135A>G (n.*220+6135A>G)
c.751A>G (p.Lys251Glu)
c.778A>G (p.Lys260Glu)
c.1633A>G (p.Lys545Glu)
c.1447A>G (p.Lys483Glu)
c.1366A>G (p.Lys456Glu)
c.1072A>G (p.Lys358Glu)
c.1453A>G (p.Lys485Glu)
2g.48688089T>GCA346745065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A>C (p.Lys570Gln)
c.*20A>C (n.*20A>C)
c.3441+16409T>G (n.3441+16409T>G)
c.*452A>C (n.*452A>C)
c.1627A>C (p.Lys543Gln)
c.276+16409T>G (n.276+16409T>G)
c.*220+6135A>C (n.*220+6135A>C)
c.751A>C (p.Lys251Gln)
c.778A>C (p.Lys260Gln)
c.1633A>C (p.Lys545Gln)
c.1447A>C (p.Lys483Gln)
c.1366A>C (p.Lys456Gln)
c.1072A>C (p.Lys358Gln)
c.1453A>C (p.Lys485Gln)
 gnomAD v4
2g.48688089T=CA1248600984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1708A= (p.Lys570=)
c.*20A= (n.*20A=)
c.3441+16409T= (n.3441+16409T=)
c.*452A= (n.*452A=)
c.1627A= (p.Lys543=)
c.276+16409T= (n.276+16409T=)
c.*220+6135A= (n.*220+6135A=)
c.751A= (p.Lys251=)
c.778A= (p.Lys260=)
c.1633A= (p.Lys545=)
c.1447A= (p.Lys483=)
c.1366A= (p.Lys456=)
c.1072A= (p.Lys358=)
c.1453A= (p.Lys485=)
2g.48688090C>ACA346745068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>T (p.Lys569Asn)
c.*19G>T (n.*19G>T)
c.3441+16410C>A (n.3441+16410C>A)
c.*451G>T (n.*451G>T)
c.1626G>T (p.Lys542Asn)
c.276+16410C>A (n.276+16410C>A)
c.*220+6134G>T (n.*220+6134G>T)
c.750G>T (p.Lys250Asn)
c.777G>T (p.Lys259Asn)
c.1632G>T (p.Lys544Asn)
c.1446G>T (p.Lys482Asn)
c.1365G>T (p.Lys455Asn)
c.1071G>T (p.Lys357Asn)
c.1452G>T (p.Lys484Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.48688090C=CA1248600985GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G= (p.Lys569=)
c.*19G= (n.*19G=)
c.3441+16410C= (n.3441+16410C=)
c.*451G= (n.*451G=)
c.1626G= (p.Lys542=)
c.276+16410C= (n.276+16410C=)
c.*220+6134G= (n.*220+6134G=)
c.750G= (p.Lys250=)
c.777G= (p.Lys259=)
c.1632G= (p.Lys544=)
c.1446G= (p.Lys482=)
c.1365G= (p.Lys455=)
c.1071G= (p.Lys357=)
c.1452G= (p.Lys484=)
2g.48688090C>GCA346745082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>C (p.Lys569Asn)
c.*19G>C (n.*19G>C)
c.3441+16410C>G (n.3441+16410C>G)
c.*451G>C (n.*451G>C)
c.1626G>C (p.Lys542Asn)
c.276+16410C>G (n.276+16410C>G)
c.*220+6134G>C (n.*220+6134G>C)
c.750G>C (p.Lys250Asn)
c.777G>C (p.Lys259Asn)
c.1632G>C (p.Lys544Asn)
c.1446G>C (p.Lys482Asn)
c.1365G>C (p.Lys455Asn)
c.1071G>C (p.Lys357Asn)
c.1452G>C (p.Lys484Asn)
2g.48688090C>TCA426124958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1707G>A (p.Lys569=)
c.*19G>A (n.*19G>A)
c.3441+16410C>T (n.3441+16410C>T)
c.*451G>A (n.*451G>A)
c.1626G>A (p.Lys542=)
c.276+16410C>T (n.276+16410C>T)
c.*220+6134G>A (n.*220+6134G>A)
c.750G>A (p.Lys250=)
c.777G>A (p.Lys259=)
c.1632G>A (p.Lys544=)
c.1446G>A (p.Lys482=)
c.1365G>A (p.Lys455=)
c.1071G>A (p.Lys357=)
c.1452G>A (p.Lys484=)
2g.48688091T>ACA346745086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>T (p.Lys569Met)
c.*18A>T (n.*18A>T)
c.3441+16411T>A (n.3441+16411T>A)
c.*450A>T (n.*450A>T)
c.1625A>T (p.Lys542Met)
c.276+16411T>A (n.276+16411T>A)
c.*220+6133A>T (n.*220+6133A>T)
c.749A>T (p.Lys250Met)
c.776A>T (p.Lys259Met)
c.1631A>T (p.Lys544Met)
c.1445A>T (p.Lys482Met)
c.1364A>T (p.Lys455Met)
c.1070A>T (p.Lys357Met)
c.1451A>T (p.Lys484Met)
2g.48688091T>CCA346745087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>G (p.Lys569Arg)
c.*18A>G (n.*18A>G)
c.3441+16411T>C (n.3441+16411T>C)
c.*450A>G (n.*450A>G)
c.1625A>G (p.Lys542Arg)
c.276+16411T>C (n.276+16411T>C)
c.*220+6133A>G (n.*220+6133A>G)
c.749A>G (p.Lys250Arg)
c.776A>G (p.Lys259Arg)
c.1631A>G (p.Lys544Arg)
c.1445A>G (p.Lys482Arg)
c.1364A>G (p.Lys455Arg)
c.1070A>G (p.Lys357Arg)
c.1451A>G (p.Lys484Arg)
 gnomAD v4
2g.48688091T>GCA346745089GTF2A1L,LHCGR,STON1-GTF2A1Lc.1706A>C (p.Lys569Thr)
c.*18A>C (n.*18A>C)
c.3441+16411T>G (n.3441+16411T>G)
c.*450A>C (n.*450A>C)
c.1625A>C (p.Lys542Thr)
c.276+16411T>G (n.276+16411T>G)
c.*220+6133A>C (n.*220+6133A>C)
c.749A>C (p.Lys250Thr)
c.776A>C (p.Lys259Thr)
c.1631A>C (p.Lys544Thr)
c.1445A>C (p.Lys482Thr)
c.1364A>C (p.Lys455Thr)
c.1070A>C (p.Lys357Thr)
c.1451A>C (p.Lys484Thr)
2g.48688092T>ACA346745091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>T (p.Lys569Ter)
c.*17A>T (n.*17A>T)
c.3441+16412T>A (n.3441+16412T>A)
c.*449A>T (n.*449A>T)
c.1624A>T (p.Lys542Ter)
c.276+16412T>A (n.276+16412T>A)
c.*220+6132A>T (n.*220+6132A>T)
c.748A>T (p.Lys250Ter)
c.775A>T (p.Lys259Ter)
c.1630A>T (p.Lys544Ter)
c.1444A>T (p.Lys482Ter)
c.1363A>T (p.Lys455Ter)
c.1069A>T (p.Lys357Ter)
c.1450A>T (p.Lys484Ter)
2g.48688092T>CCA346745092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>G (p.Lys569Glu)
c.*17A>G (n.*17A>G)
c.3441+16412T>C (n.3441+16412T>C)
c.*449A>G (n.*449A>G)
c.1624A>G (p.Lys542Glu)
c.276+16412T>C (n.276+16412T>C)
c.*220+6132A>G (n.*220+6132A>G)
c.748A>G (p.Lys250Glu)
c.775A>G (p.Lys259Glu)
c.1630A>G (p.Lys544Glu)
c.1444A>G (p.Lys482Glu)
c.1363A>G (p.Lys455Glu)
c.1069A>G (p.Lys357Glu)
c.1450A>G (p.Lys484Glu)
2g.48688092T>GCA346745095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>C (p.Lys569Gln)
c.*17A>C (n.*17A>C)
c.3441+16412T>G (n.3441+16412T>G)
c.*449A>C (n.*449A>C)
c.1624A>C (p.Lys542Gln)
c.276+16412T>G (n.276+16412T>G)
c.*220+6132A>C (n.*220+6132A>C)
c.748A>C (p.Lys250Gln)
c.775A>C (p.Lys259Gln)
c.1630A>C (p.Lys544Gln)
c.1444A>C (p.Lys482Gln)
c.1363A>C (p.Lys455Gln)
c.1069A>C (p.Lys357Gln)
c.1450A>C (p.Lys484Gln)
2g.48688093A=CA1248600986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T= (p.Ala568=)
c.*16T= (n.*16T=)
c.3441+16413A= (n.3441+16413A=)
c.*448T= (n.*448T=)
c.1623T= (p.Ala541=)
c.276+16413A= (n.276+16413A=)
c.*220+6131T= (n.*220+6131T=)
c.747T= (p.Ala249=)
c.774T= (p.Ala258=)
c.1629T= (p.Ala543=)
c.1443T= (p.Ala481=)
c.1362T= (p.Ala454=)
c.1068T= (p.Ala356=)
c.1449T= (p.Ala483=)
2g.48688093A>CCA426124960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>G (p.Ala568=)
c.*16T>G (n.*16T>G)
c.3441+16413A>C (n.3441+16413A>C)
c.*448T>G (n.*448T>G)
c.1623T>G (p.Ala541=)
c.276+16413A>C (n.276+16413A>C)
c.*220+6131T>G (n.*220+6131T>G)
c.747T>G (p.Ala249=)
c.774T>G (p.Ala258=)
c.1629T>G (p.Ala543=)
c.1443T>G (p.Ala481=)
c.1362T>G (p.Ala454=)
c.1068T>G (p.Ala356=)
c.1449T>G (p.Ala483=)
2g.48688093A>GCA426124961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>C (p.Ala568=)
c.*16T>C (n.*16T>C)
c.3441+16413A>G (n.3441+16413A>G)
c.*448T>C (n.*448T>C)
c.1623T>C (p.Ala541=)
c.276+16413A>G (n.276+16413A>G)
c.*220+6131T>C (n.*220+6131T>C)
c.747T>C (p.Ala249=)
c.774T>C (p.Ala258=)
c.1629T>C (p.Ala543=)
c.1443T>C (p.Ala481=)
c.1362T>C (p.Ala454=)
c.1068T>C (p.Ala356=)
c.1449T>C (p.Ala483=)
2g.48688093A>TCA426124962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>A (p.Ala568=)
c.*16T>A (n.*16T>A)
c.3441+16413A>T (n.3441+16413A>T)
c.*448T>A (n.*448T>A)
c.1623T>A (p.Ala541=)
c.276+16413A>T (n.276+16413A>T)
c.*220+6131T>A (n.*220+6131T>A)
c.747T>A (p.Ala249=)
c.774T>A (p.Ala258=)
c.1629T>A (p.Ala543=)
c.1443T>A (p.Ala481=)
c.1362T>A (p.Ala454=)
c.1068T>A (p.Ala356=)
c.1449T>A (p.Ala483=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688094G>ACA123933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>T (p.Ala568Val)
c.*15C>T (n.*15C>T)
c.3441+16414G>A (n.3441+16414G>A)
c.*447C>T (n.*447C>T)
c.1622C>T (p.Ala541Val)
c.276+16414G>A (n.276+16414G>A)
c.*220+6130C>T (n.*220+6130C>T)
c.746C>T (p.Ala249Val)
c.773C>T (p.Ala258Val)
c.1628C>T (p.Ala543Val)
c.1442C>T (p.Ala481Val)
c.1361C>T (p.Ala454Val)
c.1067C>T (p.Ala356Val)
c.1448C>T (p.Ala483Val)
 ClinVar dbSNP
2g.48688094G>CCA346745111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>G (p.Ala568Gly)
c.*15C>G (n.*15C>G)
c.3441+16414G>C (n.3441+16414G>C)
c.*447C>G (n.*447C>G)
c.1622C>G (p.Ala541Gly)
c.276+16414G>C (n.276+16414G>C)
c.*220+6130C>G (n.*220+6130C>G)
c.746C>G (p.Ala249Gly)
c.773C>G (p.Ala258Gly)
c.1628C>G (p.Ala543Gly)
c.1442C>G (p.Ala481Gly)
c.1361C>G (p.Ala454Gly)
c.1067C>G (p.Ala356Gly)
c.1448C>G (p.Ala483Gly)
2g.48688094G=CA1248600987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C= (p.Ala568=)
c.*15C= (n.*15C=)
c.3441+16414G= (n.3441+16414G=)
c.*447C= (n.*447C=)
c.1622C= (p.Ala541=)
c.276+16414G= (n.276+16414G=)
c.*220+6130C= (n.*220+6130C=)
c.746C= (p.Ala249=)
c.773C= (p.Ala258=)
c.1628C= (p.Ala543=)
c.1442C= (p.Ala481=)
c.1361C= (p.Ala454=)
c.1067C= (p.Ala356=)
c.1448C= (p.Ala483=)
2g.48688094G>TCA346745104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>A (p.Ala568Asp)
c.*15C>A (n.*15C>A)
c.3441+16414G>T (n.3441+16414G>T)
c.*447C>A (n.*447C>A)
c.1622C>A (p.Ala541Asp)
c.276+16414G>T (n.276+16414G>T)
c.*220+6130C>A (n.*220+6130C>A)
c.746C>A (p.Ala249Asp)
c.773C>A (p.Ala258Asp)
c.1628C>A (p.Ala543Asp)
c.1442C>A (p.Ala481Asp)
c.1361C>A (p.Ala454Asp)
c.1067C>A (p.Ala356Asp)
c.1448C>A (p.Ala483Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.48688095C>ACA346745114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>T (p.Ala568Ser)
c.*14G>T (n.*14G>T)
c.3441+16415C>A (n.3441+16415C>A)
c.*446G>T (n.*446G>T)
c.1621G>T (p.Ala541Ser)
c.276+16415C>A (n.276+16415C>A)
c.*220+6129G>T (n.*220+6129G>T)
c.745G>T (p.Ala249Ser)
c.772G>T (p.Ala258Ser)
c.1627G>T (p.Ala543Ser)
c.1441G>T (p.Ala481Ser)
c.1360G>T (p.Ala454Ser)
c.1066G>T (p.Ala356Ser)
c.1447G>T (p.Ala483Ser)
2g.48688095C>GCA346745118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>C (p.Ala568Pro)
c.*14G>C (n.*14G>C)
c.3441+16415C>G (n.3441+16415C>G)
c.*446G>C (n.*446G>C)
c.1621G>C (p.Ala541Pro)
c.276+16415C>G (n.276+16415C>G)
c.*220+6129G>C (n.*220+6129G>C)
c.745G>C (p.Ala249Pro)
c.772G>C (p.Ala258Pro)
c.1627G>C (p.Ala543Pro)
c.1441G>C (p.Ala481Pro)
c.1360G>C (p.Ala454Pro)
c.1066G>C (p.Ala356Pro)
c.1447G>C (p.Ala483Pro)
2g.48688095C>TCA346745121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>A (p.Ala568Thr)
c.*14G>A (n.*14G>A)
c.3441+16415C>T (n.3441+16415C>T)
c.*446G>A (n.*446G>A)
c.1621G>A (p.Ala541Thr)
c.276+16415C>T (n.276+16415C>T)
c.*220+6129G>A (n.*220+6129G>A)
c.745G>A (p.Ala249Thr)
c.772G>A (p.Ala258Thr)
c.1627G>A (p.Ala543Thr)
c.1441G>A (p.Ala481Thr)
c.1360G>A (p.Ala454Thr)
c.1066G>A (p.Ala356Thr)
c.1447G>A (p.Ala483Thr)
2g.48688096A=CA1248600988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T= (p.Ile567=)
c.*13T= (n.*13T=)
c.3441+16416A= (n.3441+16416A=)
c.*445T= (n.*445T=)
c.1620T= (p.Ile540=)
c.276+16416A= (n.276+16416A=)
c.*220+6128T= (n.*220+6128T=)
c.744T= (p.Ile248=)
c.771T= (p.Ile257=)
c.1626T= (p.Ile542=)
c.1440T= (p.Ile480=)
c.1359T= (p.Ile453=)
c.1065T= (p.Ile355=)
c.1446T= (p.Ile482=)
2g.48688096A>CCA346745124GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>G (p.Ile567Met)
c.*13T>G (n.*13T>G)
c.3441+16416A>C (n.3441+16416A>C)
c.*445T>G (n.*445T>G)
c.1620T>G (p.Ile540Met)
c.276+16416A>C (n.276+16416A>C)
c.*220+6128T>G (n.*220+6128T>G)
c.744T>G (p.Ile248Met)
c.771T>G (p.Ile257Met)
c.1626T>G (p.Ile542Met)
c.1440T>G (p.Ile480Met)
c.1359T>G (p.Ile453Met)
c.1065T>G (p.Ile355Met)
c.1446T>G (p.Ile482Met)
 gnomAD v4
2g.48688096A>GCA426124965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>C (p.Ile567=)
c.*13T>C (n.*13T>C)
c.3441+16416A>G (n.3441+16416A>G)
c.*445T>C (n.*445T>C)
c.1620T>C (p.Ile540=)
c.276+16416A>G (n.276+16416A>G)
c.*220+6128T>C (n.*220+6128T>C)
c.744T>C (p.Ile248=)
c.771T>C (p.Ile257=)
c.1626T>C (p.Ile542=)
c.1440T>C (p.Ile480=)
c.1359T>C (p.Ile453=)
c.1065T>C (p.Ile355=)
c.1446T>C (p.Ile482=)
2g.48688096A>TCA46752825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>A (p.Ile567=)
c.*13T>A (n.*13T>A)
c.3441+16416A>T (n.3441+16416A>T)
c.*445T>A (n.*445T>A)
c.1620T>A (p.Ile540=)
c.276+16416A>T (n.276+16416A>T)
c.*220+6128T>A (n.*220+6128T>A)
c.744T>A (p.Ile248=)
c.771T>A (p.Ile257=)
c.1626T>A (p.Ile542=)
c.1440T>A (p.Ile480=)
c.1359T>A (p.Ile453=)
c.1065T>A (p.Ile355=)
c.1446T>A (p.Ile482=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688097A>CCA346745131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>G (p.Ile567Ser)
c.*12T>G (n.*12T>G)
c.3441+16417A>C (n.3441+16417A>C)
c.*444T>G (n.*444T>G)
c.1619T>G (p.Ile540Ser)
c.276+16417A>C (n.276+16417A>C)
c.*220+6127T>G (n.*220+6127T>G)
c.743T>G (p.Ile248Ser)
c.770T>G (p.Ile257Ser)
c.1625T>G (p.Ile542Ser)
c.1439T>G (p.Ile480Ser)
c.1358T>G (p.Ile453Ser)
c.1064T>G (p.Ile355Ser)
c.1445T>G (p.Ile482Ser)
2g.48688097A>GCA346745134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>C (p.Ile567Thr)
c.*12T>C (n.*12T>C)
c.3441+16417A>G (n.3441+16417A>G)
c.*444T>C (n.*444T>C)
c.1619T>C (p.Ile540Thr)
c.276+16417A>G (n.276+16417A>G)
c.*220+6127T>C (n.*220+6127T>C)
c.743T>C (p.Ile248Thr)
c.770T>C (p.Ile257Thr)
c.1625T>C (p.Ile542Thr)
c.1439T>C (p.Ile480Thr)
c.1358T>C (p.Ile453Thr)
c.1064T>C (p.Ile355Thr)
c.1445T>C (p.Ile482Thr)
2g.48688097A>TCA346745136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>A (p.Ile567Asn)
c.*12T>A (n.*12T>A)
c.3441+16417A>T (n.3441+16417A>T)
c.*444T>A (n.*444T>A)
c.1619T>A (p.Ile540Asn)
c.276+16417A>T (n.276+16417A>T)
c.*220+6127T>A (n.*220+6127T>A)
c.743T>A (p.Ile248Asn)
c.770T>A (p.Ile257Asn)
c.1625T>A (p.Ile542Asn)
c.1439T>A (p.Ile480Asn)
c.1358T>A (p.Ile453Asn)
c.1064T>A (p.Ile355Asn)
c.1445T>A (p.Ile482Asn)
2g.48688098T>ACA346745141GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>T (p.Ile567Phe)
c.*11A>T (n.*11A>T)
c.3441+16418T>A (n.3441+16418T>A)
c.*443A>T (n.*443A>T)
c.1618A>T (p.Ile540Phe)
c.276+16418T>A (n.276+16418T>A)
c.*220+6126A>T (n.*220+6126A>T)
c.742A>T (p.Ile248Phe)
c.769A>T (p.Ile257Phe)
c.1624A>T (p.Ile542Phe)
c.1438A>T (p.Ile480Phe)
c.1357A>T (p.Ile453Phe)
c.1063A>T (p.Ile355Phe)
c.1444A>T (p.Ile482Phe)
 gnomAD v4
2g.48688098T>CCA346745144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>G (p.Ile567Val)
c.*11A>G (n.*11A>G)
c.3441+16418T>C (n.3441+16418T>C)
c.*443A>G (n.*443A>G)
c.1618A>G (p.Ile540Val)
c.276+16418T>C (n.276+16418T>C)
c.*220+6126A>G (n.*220+6126A>G)
c.742A>G (p.Ile248Val)
c.769A>G (p.Ile257Val)
c.1624A>G (p.Ile542Val)
c.1438A>G (p.Ile480Val)
c.1357A>G (p.Ile453Val)
c.1063A>G (p.Ile355Val)
c.1444A>G (p.Ile482Val)
 dbSNP
2g.48688098T>GCA346745149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>C (p.Ile567Leu)
c.*11A>C (n.*11A>C)
c.3441+16418T>G (n.3441+16418T>G)
c.*443A>C (n.*443A>C)
c.1618A>C (p.Ile540Leu)
c.276+16418T>G (n.276+16418T>G)
c.*220+6126A>C (n.*220+6126A>C)
c.742A>C (p.Ile248Leu)
c.769A>C (p.Ile257Leu)
c.1624A>C (p.Ile542Leu)
c.1438A>C (p.Ile480Leu)
c.1357A>C (p.Ile453Leu)
c.1063A>C (p.Ile355Leu)
c.1444A>C (p.Ile482Leu)
2g.48688098T=CA1248600990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A= (p.Ile567=)
c.*11A= (n.*11A=)
c.3441+16418T= (n.3441+16418T=)
c.*443A= (n.*443A=)
c.1618A= (p.Ile540=)
c.276+16418T= (n.276+16418T=)
c.*220+6126A= (n.*220+6126A=)
c.742A= (p.Ile248=)
c.769A= (p.Ile257=)
c.1624A= (p.Ile542=)
c.1438A= (p.Ile480=)
c.1357A= (p.Ile453=)
c.1063A= (p.Ile355=)
c.1444A= (p.Ile482=)
2g.48688098_48688099delinsTCCA1248600989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698_1699delinsGA (p.Lys566=)
c.*10_*11delinsGA (n.*10_*11delinsGA)
c.3441+16418_3441+16419delinsTC (n.3441+16418_3441+16419delinsTC)
c.*442_*443delinsGA (n.*442_*443delinsGA)
c.1617_1618delinsGA (p.Lys539=)
c.276+16418_276+16419delinsTC (n.276+16418_276+16419delinsTC)
c.*220+6125_*220+6126delinsGA (n.*220+6125_*220+6126delinsGA)
c.741_742delinsGA (p.Lys247=)
c.768_769delinsGA (p.Lys256=)
c.1623_1624delinsGA (p.Lys541=)
c.1437_1438delinsGA (p.Lys479=)
c.1356_1357delinsGA (p.Lys452=)
c.1062_1063delinsGA (p.Lys354=)
c.1443_1444delinsGA (p.Lys481=)
2g.48688099delCA532706159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698del (p.Ile567LeufsTer?)
c.*10del (n.*10del)
c.3441+16419del (n.3441+16419del)
c.*442del (n.*442del)
c.1617del (p.Ile540LeufsTer?)
c.276+16419del (n.276+16419del)
c.*220+6125del (n.*220+6125del)
c.741del (p.Ile248LeufsTer?)
c.768del (p.Ile257LeufsTer?)
c.1623del (p.Ile542LeufsTer?)
c.1437del (p.Ile480LeufsTer?)
c.1356del (p.Ile453LeufsTer?)
c.1062del (p.Ile355LeufsTer?)
c.1443del (p.Ile482LeufsTer?)
 dbSNP gnomAD v2
2g.48688099C>ACA346745150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>T (p.Lys566Asn)
c.*10G>T (n.*10G>T)
c.3441+16419C>A (n.3441+16419C>A)
c.*442G>T (n.*442G>T)
c.1617G>T (p.Lys539Asn)
c.276+16419C>A (n.276+16419C>A)
c.*220+6125G>T (n.*220+6125G>T)
c.741G>T (p.Lys247Asn)
c.768G>T (p.Lys256Asn)
c.1623G>T (p.Lys541Asn)
c.1437G>T (p.Lys479Asn)
c.1356G>T (p.Lys452Asn)
c.1062G>T (p.Lys354Asn)
c.1443G>T (p.Lys481Asn)
2g.48688099C=CA1248600991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G= (p.Lys566=)
c.*10G= (n.*10G=)
c.3441+16419C= (n.3441+16419C=)
c.*442G= (n.*442G=)
c.1617G= (p.Lys539=)
c.276+16419C= (n.276+16419C=)
c.*220+6125G= (n.*220+6125G=)
c.741G= (p.Lys247=)
c.768G= (p.Lys256=)
c.1623G= (p.Lys541=)
c.1437G= (p.Lys479=)
c.1356G= (p.Lys452=)
c.1062G= (p.Lys354=)
c.1443G= (p.Lys481=)
2g.48688099C>GCA346745153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>C (p.Lys566Asn)
c.*10G>C (n.*10G>C)
c.3441+16419C>G (n.3441+16419C>G)
c.*442G>C (n.*442G>C)
c.1617G>C (p.Lys539Asn)
c.276+16419C>G (n.276+16419C>G)
c.*220+6125G>C (n.*220+6125G>C)
c.741G>C (p.Lys247Asn)
c.768G>C (p.Lys256Asn)
c.1623G>C (p.Lys541Asn)
c.1437G>C (p.Lys479Asn)
c.1356G>C (p.Lys452Asn)
c.1062G>C (p.Lys354Asn)
c.1443G>C (p.Lys481Asn)
2g.48688099C>TCA426124969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>A (p.Lys566=)
c.*10G>A (n.*10G>A)
c.3441+16419C>T (n.3441+16419C>T)
c.*442G>A (n.*442G>A)
c.1617G>A (p.Lys539=)
c.276+16419C>T (n.276+16419C>T)
c.*220+6125G>A (n.*220+6125G>A)
c.741G>A (p.Lys247=)
c.768G>A (p.Lys256=)
c.1623G>A (p.Lys541=)
c.1437G>A (p.Lys479=)
c.1356G>A (p.Lys452=)
c.1062G>A (p.Lys354=)
c.1443G>A (p.Lys481=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688100T>ACA346745158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>T (p.Lys566Met)
c.*9A>T (n.*9A>T)
c.3441+16420T>A (n.3441+16420T>A)
c.*441A>T (n.*441A>T)
c.1616A>T (p.Lys539Met)
c.276+16420T>A (n.276+16420T>A)
c.*220+6124A>T (n.*220+6124A>T)
c.740A>T (p.Lys247Met)
c.767A>T (p.Lys256Met)
c.1622A>T (p.Lys541Met)
c.1436A>T (p.Lys479Met)
c.1355A>T (p.Lys452Met)
c.1061A>T (p.Lys354Met)
c.1442A>T (p.Lys481Met)
2g.48688100T>CCA346745166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>G (p.Lys566Arg)
c.*9A>G (n.*9A>G)
c.3441+16420T>C (n.3441+16420T>C)
c.*441A>G (n.*441A>G)
c.1616A>G (p.Lys539Arg)
c.276+16420T>C (n.276+16420T>C)
c.*220+6124A>G (n.*220+6124A>G)
c.740A>G (p.Lys247Arg)
c.767A>G (p.Lys256Arg)
c.1622A>G (p.Lys541Arg)
c.1436A>G (p.Lys479Arg)
c.1355A>G (p.Lys452Arg)
c.1061A>G (p.Lys354Arg)
c.1442A>G (p.Lys481Arg)
2g.48688100T>GCA346745161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>C (p.Lys566Thr)
c.*9A>C (n.*9A>C)
c.3441+16420T>G (n.3441+16420T>G)
c.*441A>C (n.*441A>C)
c.1616A>C (p.Lys539Thr)
c.276+16420T>G (n.276+16420T>G)
c.*220+6124A>C (n.*220+6124A>C)
c.740A>C (p.Lys247Thr)
c.767A>C (p.Lys256Thr)
c.1622A>C (p.Lys541Thr)
c.1436A>C (p.Lys479Thr)
c.1355A>C (p.Lys452Thr)
c.1061A>C (p.Lys354Thr)
c.1442A>C (p.Lys481Thr)
2g.48688101T>ACA346745168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>T (p.Lys566Ter)
c.*8A>T (n.*8A>T)
c.3441+16421T>A (n.3441+16421T>A)
c.*440A>T (n.*440A>T)
c.1615A>T (p.Lys539Ter)
c.276+16421T>A (n.276+16421T>A)
c.*220+6123A>T (n.*220+6123A>T)
c.739A>T (p.Lys247Ter)
c.766A>T (p.Lys256Ter)
c.1621A>T (p.Lys541Ter)
c.1435A>T (p.Lys479Ter)
c.1354A>T (p.Lys452Ter)
c.1060A>T (p.Lys354Ter)
c.1441A>T (p.Lys481Ter)
2g.48688101T>CCA346745169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>G (p.Lys566Glu)
c.*8A>G (n.*8A>G)
c.3441+16421T>C (n.3441+16421T>C)
c.*440A>G (n.*440A>G)
c.1615A>G (p.Lys539Glu)
c.276+16421T>C (n.276+16421T>C)
c.*220+6123A>G (n.*220+6123A>G)
c.739A>G (p.Lys247Glu)
c.766A>G (p.Lys256Glu)
c.1621A>G (p.Lys541Glu)
c.1435A>G (p.Lys479Glu)
c.1354A>G (p.Lys452Glu)
c.1060A>G (p.Lys354Glu)
c.1441A>G (p.Lys481Glu)
2g.48688101T>GCA346745170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>C (p.Lys566Gln)
c.*8A>C (n.*8A>C)
c.3441+16421T>G (n.3441+16421T>G)
c.*440A>C (n.*440A>C)
c.1615A>C (p.Lys539Gln)
c.276+16421T>G (n.276+16421T>G)
c.*220+6123A>C (n.*220+6123A>C)
c.739A>C (p.Lys247Gln)
c.766A>C (p.Lys256Gln)
c.1621A>C (p.Lys541Gln)
c.1435A>C (p.Lys479Gln)
c.1354A>C (p.Lys452Gln)
c.1060A>C (p.Lys354Gln)
c.1441A>C (p.Lys481Gln)
2g.48688102T>ACA1653001GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>T (p.Thr565=)
c.*7A>T (n.*7A>T)
c.3441+16422T>A (n.3441+16422T>A)
c.*439A>T (n.*439A>T)
c.1614A>T (p.Thr538=)
c.276+16422T>A (n.276+16422T>A)
c.*220+6122A>T (n.*220+6122A>T)
c.738A>T (p.Thr246=)
c.765A>T (p.Thr255=)
c.1620A>T (p.Thr540=)
c.1434A>T (p.Thr478=)
c.1353A>T (p.Thr451=)
c.1059A>T (p.Thr353=)
c.1440A>T (p.Thr480=)
 dbSNP ExAC
2g.48688102T>CCA426124976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>G (p.Thr565=)
c.*7A>G (n.*7A>G)
c.3441+16422T>C (n.3441+16422T>C)
c.*439A>G (n.*439A>G)
c.1614A>G (p.Thr538=)
c.276+16422T>C (n.276+16422T>C)
c.*220+6122A>G (n.*220+6122A>G)
c.738A>G (p.Thr246=)
c.765A>G (p.Thr255=)
c.1620A>G (p.Thr540=)
c.1434A>G (p.Thr478=)
c.1353A>G (p.Thr451=)
c.1059A>G (p.Thr353=)
c.1440A>G (p.Thr480=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688102T>GCA426124977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>C (p.Thr565=)
c.*7A>C (n.*7A>C)
c.3441+16422T>G (n.3441+16422T>G)
c.*439A>C (n.*439A>C)
c.1614A>C (p.Thr538=)
c.276+16422T>G (n.276+16422T>G)
c.*220+6122A>C (n.*220+6122A>C)
c.738A>C (p.Thr246=)
c.765A>C (p.Thr255=)
c.1620A>C (p.Thr540=)
c.1434A>C (p.Thr478=)
c.1353A>C (p.Thr451=)
c.1059A>C (p.Thr353=)
c.1440A>C (p.Thr480=)
2g.48688102T=CA1248600992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A= (p.Thr565=)
c.*7A= (n.*7A=)
c.3441+16422T= (n.3441+16422T=)
c.*439A= (n.*439A=)
c.1614A= (p.Thr538=)
c.276+16422T= (n.276+16422T=)
c.*220+6122A= (n.*220+6122A=)
c.738A= (p.Thr246=)
c.765A= (p.Thr255=)
c.1620A= (p.Thr540=)
c.1434A= (p.Thr478=)
c.1353A= (p.Thr451=)
c.1059A= (p.Thr353=)
c.1440A= (p.Thr480=)
2g.48688103G>ACA346745173GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>T (p.Thr565Ile)
c.*6C>T (n.*6C>T)
c.3441+16423G>A (n.3441+16423G>A)
c.*438C>T (n.*438C>T)
c.1613C>T (p.Thr538Ile)
c.276+16423G>A (n.276+16423G>A)
c.*220+6121C>T (n.*220+6121C>T)
c.737C>T (p.Thr246Ile)
c.764C>T (p.Thr255Ile)
c.1619C>T (p.Thr540Ile)
c.1433C>T (p.Thr478Ile)
c.1352C>T (p.Thr451Ile)
c.1058C>T (p.Thr353Ile)
c.1439C>T (p.Thr480Ile)
2g.48688103G>CCA346745177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>G (p.Thr565Arg)
c.*6C>G (n.*6C>G)
c.3441+16423G>C (n.3441+16423G>C)
c.*438C>G (n.*438C>G)
c.1613C>G (p.Thr538Arg)
c.276+16423G>C (n.276+16423G>C)
c.*220+6121C>G (n.*220+6121C>G)
c.737C>G (p.Thr246Arg)
c.764C>G (p.Thr255Arg)
c.1619C>G (p.Thr540Arg)
c.1433C>G (p.Thr478Arg)
c.1352C>G (p.Thr451Arg)
c.1058C>G (p.Thr353Arg)
c.1439C>G (p.Thr480Arg)
 gnomAD v4
2g.48688103G>TCA346745178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>A (p.Thr565Lys)
c.*6C>A (n.*6C>A)
c.3441+16423G>T (n.3441+16423G>T)
c.*438C>A (n.*438C>A)
c.1613C>A (p.Thr538Lys)
c.276+16423G>T (n.276+16423G>T)
c.*220+6121C>A (n.*220+6121C>A)
c.737C>A (p.Thr246Lys)
c.764C>A (p.Thr255Lys)
c.1619C>A (p.Thr540Lys)
c.1433C>A (p.Thr478Lys)
c.1352C>A (p.Thr451Lys)
c.1058C>A (p.Thr353Lys)
c.1439C>A (p.Thr480Lys)
 gnomAD v4
2g.48688104T>ACA346745179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>T (p.Thr565Ser)
c.*5A>T (n.*5A>T)
c.3441+16424T>A (n.3441+16424T>A)
c.*437A>T (n.*437A>T)
c.1612A>T (p.Thr538Ser)
c.276+16424T>A (n.276+16424T>A)
c.*220+6120A>T (n.*220+6120A>T)
c.736A>T (p.Thr246Ser)
c.763A>T (p.Thr255Ser)
c.1618A>T (p.Thr540Ser)
c.1432A>T (p.Thr478Ser)
c.1351A>T (p.Thr451Ser)
c.1057A>T (p.Thr353Ser)
c.1438A>T (p.Thr480Ser)
2g.48688104T>CCA346745180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>G (p.Thr565Ala)
c.*5A>G (n.*5A>G)
c.3441+16424T>C (n.3441+16424T>C)
c.*437A>G (n.*437A>G)
c.1612A>G (p.Thr538Ala)
c.276+16424T>C (n.276+16424T>C)
c.*220+6120A>G (n.*220+6120A>G)
c.736A>G (p.Thr246Ala)
c.763A>G (p.Thr255Ala)
c.1618A>G (p.Thr540Ala)
c.1432A>G (p.Thr478Ala)
c.1351A>G (p.Thr451Ala)
c.1057A>G (p.Thr353Ala)
c.1438A>G (p.Thr480Ala)
2g.48688104T>GCA346745182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>C (p.Thr565Pro)
c.*5A>C (n.*5A>C)
c.3441+16424T>G (n.3441+16424T>G)
c.*437A>C (n.*437A>C)
c.1612A>C (p.Thr538Pro)
c.276+16424T>G (n.276+16424T>G)
c.*220+6120A>C (n.*220+6120A>C)
c.736A>C (p.Thr246Pro)
c.763A>C (p.Thr255Pro)
c.1618A>C (p.Thr540Pro)
c.1432A>C (p.Thr478Pro)
c.1351A>C (p.Thr451Pro)
c.1057A>C (p.Thr353Pro)
c.1438A>C (p.Thr480Pro)
2g.48688105A>CCA346745188GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>G (p.Asp564Glu)
c.*4T>G (n.*4T>G)
c.3441+16425A>C (n.3441+16425A>C)
c.*436T>G (n.*436T>G)
c.1611T>G (p.Asp537Glu)
c.276+16425A>C (n.276+16425A>C)
c.*220+6119T>G (n.*220+6119T>G)
c.735T>G (p.Asp245Glu)
c.762T>G (p.Asp254Glu)
c.1617T>G (p.Asp539Glu)
c.1431T>G (p.Asp477Glu)
c.1350T>G (p.Asp450Glu)
c.1056T>G (p.Asp352Glu)
c.1437T>G (p.Asp479Glu)
2g.48688105A>GCA426124981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>C (p.Asp564=)
c.*4T>C (n.*4T>C)
c.3441+16425A>G (n.3441+16425A>G)
c.*436T>C (n.*436T>C)
c.1611T>C (p.Asp537=)
c.276+16425A>G (n.276+16425A>G)
c.*220+6119T>C (n.*220+6119T>C)
c.735T>C (p.Asp245=)
c.762T>C (p.Asp254=)
c.1617T>C (p.Asp539=)
c.1431T>C (p.Asp477=)
c.1350T>C (p.Asp450=)
c.1056T>C (p.Asp352=)
c.1437T>C (p.Asp479=)
 gnomAD v4
2g.48688105A>TCA346745185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>A (p.Asp564Glu)
c.*4T>A (n.*4T>A)
c.3441+16425A>T (n.3441+16425A>T)
c.*436T>A (n.*436T>A)
c.1611T>A (p.Asp537Glu)
c.276+16425A>T (n.276+16425A>T)
c.*220+6119T>A (n.*220+6119T>A)
c.735T>A (p.Asp245Glu)
c.762T>A (p.Asp254Glu)
c.1617T>A (p.Asp539Glu)
c.1431T>A (p.Asp477Glu)
c.1350T>A (p.Asp450Glu)
c.1056T>A (p.Asp352Glu)
c.1437T>A (p.Asp479Glu)
2g.48688106T>ACA346745190GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A>T (p.Asp564Val)
c.*3A>T (n.*3A>T)
c.3441+16426T>A (n.3441+16426T>A)
c.*435A>T (n.*435A>T)
c.1610A>T (p.Asp537Val)
c.276+16426T>A (n.276+16426T>A)
c.*220+6118A>T (n.*220+6118A>T)
c.734A>T (p.Asp245Val)
c.761A>T (p.Asp254Val)
c.1616A>T (p.Asp539Val)
c.1430A>T (p.Asp477Val)
c.1349A>T (p.Asp450Val)
c.1055A>T (p.Asp352Val)
c.1436A>T (p.Asp479Val)
 ClinVar dbSNP
2g.48688106T>CCA123935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A>G (p.Asp564Gly)
c.*3A>G (n.*3A>G)
c.3441+16426T>C (n.3441+16426T>C)
c.*435A>G (n.*435A>G)
c.1610A>G (p.Asp537Gly)
c.276+16426T>C (n.276+16426T>C)
c.*220+6118A>G (n.*220+6118A>G)
c.734A>G (p.Asp245Gly)
c.761A>G (p.Asp254Gly)
c.1616A>G (p.Asp539Gly)
c.1430A>G (p.Asp477Gly)
c.1349A>G (p.Asp450Gly)
c.1055A>G (p.Asp352Gly)
c.1436A>G (p.Asp479Gly)
 ClinVar dbSNP
2g.48688106T>GCA346745191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A>C (p.Asp564Ala)
c.*3A>C (n.*3A>C)
c.3441+16426T>G (n.3441+16426T>G)
c.*435A>C (n.*435A>C)
c.1610A>C (p.Asp537Ala)
c.276+16426T>G (n.276+16426T>G)
c.*220+6118A>C (n.*220+6118A>C)
c.734A>C (p.Asp245Ala)
c.761A>C (p.Asp254Ala)
c.1616A>C (p.Asp539Ala)
c.1430A>C (p.Asp477Ala)
c.1349A>C (p.Asp450Ala)
c.1055A>C (p.Asp352Ala)
c.1436A>C (p.Asp479Ala)
2g.48688106T=CA1248600993GTF2A1L,LHCGR,STON1-GTF2A1Lc.1691A= (p.Asp564=)
c.*3A= (n.*3A=)
c.3441+16426T= (n.3441+16426T=)
c.*435A= (n.*435A=)
c.1610A= (p.Asp537=)
c.276+16426T= (n.276+16426T=)
c.*220+6118A= (n.*220+6118A=)
c.734A= (p.Asp245=)
c.761A= (p.Asp254=)
c.1616A= (p.Asp539=)
c.1430A= (p.Asp477=)
c.1349A= (p.Asp450=)
c.1055A= (p.Asp352=)
c.1436A= (p.Asp479=)
2g.48688107C>ACA346745192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1690G>T (p.Asp564Tyr)
c.*2G>T (n.*2G>T)
c.3441+16427C>A (n.3441+16427C>A)
c.*434G>T (n.*434G>T)
c.1609G>T (p.Asp537Tyr)
c.276+16427C>A (n.276+16427C>A)
c.*220+6117G>T (n.*220+6117G>T)
c.733G>T (p.Asp245Tyr)
c.760G>T (p.Asp254Tyr)
c.1615G>T (p.Asp539Tyr)
c.1429G>T (p.Asp477Tyr)
c.1348G>T (p.Asp450Tyr)
c.1054G>T (p.Asp352Tyr)
c.1435G>T (p.Asp479Tyr)
2g.48688107C>GCA346745194GTF2A1L,LHCGR,STON1-GTF2A1Lc.1690G>C (p.Asp564His)
c.*2G>C (n.*2G>C)
c.3441+16427C>G (n.3441+16427C>G)
c.*434G>C (n.*434G>C)
c.1609G>C (p.Asp537His)
c.276+16427C>G (n.276+16427C>G)
c.*220+6117G>C (n.*220+6117G>C)
c.733G>C (p.Asp245His)
c.760G>C (p.Asp254His)
c.1615G>C (p.Asp539His)
c.1429G>C (p.Asp477His)
c.1348G>C (p.Asp450His)
c.1054G>C (p.Asp352His)
c.1435G>C (p.Asp479His)
 gnomAD v4
2g.48688107C>TCA346745198GTF2A1L,LHCGR,STON1-GTF2A1Lc.1690G>A (p.Asp564Asn)
c.*2G>A (n.*2G>A)
c.3441+16427C>T (n.3441+16427C>T)
c.*434G>A (n.*434G>A)
c.1609G>A (p.Asp537Asn)
c.276+16427C>T (n.276+16427C>T)
c.*220+6117G>A (n.*220+6117G>A)
c.733G>A (p.Asp245Asn)
c.760G>A (p.Asp254Asn)
c.1615G>A (p.Asp539Asn)
c.1429G>A (p.Asp477Asn)
c.1348G>A (p.Asp450Asn)
c.1054G>A (p.Asp352Asn)
c.1435G>A (p.Asp479Asn)
 gnomAD v4
2g.48688108T>ACA346745205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A>T (p.Lys563Asn)
c.*1A>T (n.*1A>T)
c.3441+16428T>A (n.3441+16428T>A)
c.*433A>T (n.*433A>T)
c.1608A>T (p.Lys536Asn)
c.276+16428T>A (n.276+16428T>A)
c.*220+6116A>T (n.*220+6116A>T)
c.732A>T (p.Lys244Asn)
c.759A>T (p.Lys253Asn)
c.1614A>T (p.Lys538Asn)
c.1428A>T (p.Lys476Asn)
c.1347A>T (p.Lys449Asn)
c.1053A>T (p.Lys351Asn)
c.1434A>T (p.Lys478Asn)
2g.48688108T>CCA1653002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A>G (p.Lys563=)
c.*1A>G (n.*1A>G)
c.3441+16428T>C (n.3441+16428T>C)
c.*433A>G (n.*433A>G)
c.1608A>G (p.Lys536=)
c.276+16428T>C (n.276+16428T>C)
c.*220+6116A>G (n.*220+6116A>G)
c.732A>G (p.Lys244=)
c.759A>G (p.Lys253=)
c.1614A>G (p.Lys538=)
c.1428A>G (p.Lys476=)
c.1347A>G (p.Lys449=)
c.1053A>G (p.Lys351=)
c.1434A>G (p.Lys478=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688108T>GCA346745201GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A>C (p.Lys563Asn)
c.*1A>C (n.*1A>C)
c.3441+16428T>G (n.3441+16428T>G)
c.*433A>C (n.*433A>C)
c.1608A>C (p.Lys536Asn)
c.276+16428T>G (n.276+16428T>G)
c.*220+6116A>C (n.*220+6116A>C)
c.732A>C (p.Lys244Asn)
c.759A>C (p.Lys253Asn)
c.1614A>C (p.Lys538Asn)
c.1428A>C (p.Lys476Asn)
c.1347A>C (p.Lys449Asn)
c.1053A>C (p.Lys351Asn)
c.1434A>C (p.Lys478Asn)
2g.48688108T=CA1248600994GTF2A1L,LHCGR,STON1-GTF2A1Lc.1689A= (p.Lys563=)
c.*1A= (n.*1A=)
c.3441+16428T= (n.3441+16428T=)
c.*433A= (n.*433A=)
c.1608A= (p.Lys536=)
c.276+16428T= (n.276+16428T=)
c.*220+6116A= (n.*220+6116A=)
c.732A= (p.Lys244=)
c.759A= (p.Lys253=)
c.1614A= (p.Lys538=)
c.1428A= (p.Lys476=)
c.1347A= (p.Lys449=)
c.1053A= (p.Lys351=)
c.1434A= (p.Lys478=)
2g.48688109_48688110delCA2658992082GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688_1689del (p.Lys563ArgfsTer6)
c.978_*1del (n.[c.978_*1del;Ter326=])
c.3441+16429_3441+16430del (n.3441+16429_3441+16430del)
c.*432_*433del (n.*432_*433del)
c.1607_1608del (p.Lys536ArgfsTer6)
c.276+16429_276+16430del (n.276+16429_276+16430del)
c.*220+6115_*220+6116del (n.*220+6115_*220+6116del)
c.731_732del (p.Lys244ArgfsTer6)
c.758_759del (p.Lys253ArgfsTer6)
c.1613_1614del (p.Lys538ArgfsTer6)
c.1427_1428del (p.Lys476ArgfsTer6)
c.1346_1347del (p.Lys449ArgfsTer6)
c.1052_1053del (p.Lys351ArgfsTer6)
c.1433_1434del (p.Lys478ArgfsTer6)
 gnomAD v4
2g.48688109T>ACA346745208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688A>T (p.Lys563Ile)
c.978A>T (p.Ter326Tyr)
c.3441+16429T>A (n.3441+16429T>A)
c.*432A>T (n.*432A>T)
c.1607A>T (p.Lys536Ile)
c.276+16429T>A (n.276+16429T>A)
c.*220+6115A>T (n.*220+6115A>T)
c.731A>T (p.Lys244Ile)
c.758A>T (p.Lys253Ile)
c.1613A>T (p.Lys538Ile)
c.1427A>T (p.Lys476Ile)
c.1346A>T (p.Lys449Ile)
c.1052A>T (p.Lys351Ile)
c.1433A>T (p.Lys478Ile)
2g.48688109T>CCA346745212GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688A>G (p.Lys563Arg)
c.978A>G (p.Ter326=)
c.3441+16429T>C (n.3441+16429T>C)
c.*432A>G (n.*432A>G)
c.1607A>G (p.Lys536Arg)
c.276+16429T>C (n.276+16429T>C)
c.*220+6115A>G (n.*220+6115A>G)
c.731A>G (p.Lys244Arg)
c.758A>G (p.Lys253Arg)
c.1613A>G (p.Lys538Arg)
c.1427A>G (p.Lys476Arg)
c.1346A>G (p.Lys449Arg)
c.1052A>G (p.Lys351Arg)
c.1433A>G (p.Lys478Arg)
2g.48688109T>GCA346745214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1688A>C (p.Lys563Thr)
c.978A>C (p.Ter326Tyr)
c.3441+16429T>G (n.3441+16429T>G)
c.*432A>C (n.*432A>C)
c.1607A>C (p.Lys536Thr)
c.276+16429T>G (n.276+16429T>G)
c.*220+6115A>C (n.*220+6115A>C)
c.731A>C (p.Lys244Thr)
c.758A>C (p.Lys253Thr)
c.1613A>C (p.Lys538Thr)
c.1427A>C (p.Lys476Thr)
c.1346A>C (p.Lys449Thr)
c.1052A>C (p.Lys351Thr)
c.1433A>C (p.Lys478Thr)
2g.48688110T>ACA346745223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1687A>T (p.Lys563Ter)
c.977A>T (p.Ter326Leu)
c.3441+16430T>A (n.3441+16430T>A)
c.*431A>T (n.*431A>T)
c.1606A>T (p.Lys536Ter)
c.276+16430T>A (n.276+16430T>A)
c.*220+6114A>T (n.*220+6114A>T)
c.730A>T (p.Lys244Ter)
c.757A>T (p.Lys253Ter)
c.1612A>T (p.Lys538Ter)
c.1426A>T (p.Lys476Ter)
c.1345A>T (p.Lys449Ter)
c.1051A>T (p.Lys351Ter)
c.1432A>T (p.Lys478Ter)
2g.48688110T>CCA346745232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1687A>G (p.Lys563Glu)
c.977A>G (p.Ter326=)
c.3441+16430T>C (n.3441+16430T>C)
c.*431A>G (n.*431A>G)
c.1606A>G (p.Lys536Glu)
c.276+16430T>C (n.276+16430T>C)
c.*220+6114A>G (n.*220+6114A>G)
c.730A>G (p.Lys244Glu)
c.757A>G (p.Lys253Glu)
c.1612A>G (p.Lys538Glu)
c.1426A>G (p.Lys476Glu)
c.1345A>G (p.Lys449Glu)
c.1051A>G (p.Lys351Glu)
c.1432A>G (p.Lys478Glu)
2g.48688110T>GCA346745234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1687A>C (p.Lys563Gln)
c.977A>C (p.Ter326Ser)
c.3441+16430T>G (n.3441+16430T>G)
c.*431A>C (n.*431A>C)
c.1606A>C (p.Lys536Gln)
c.276+16430T>G (n.276+16430T>G)
c.*220+6114A>C (n.*220+6114A>C)
c.730A>C (p.Lys244Gln)
c.757A>C (p.Lys253Gln)
c.1612A>C (p.Lys538Gln)
c.1426A>C (p.Lys476Gln)
c.1345A>C (p.Lys449Gln)
c.1051A>C (p.Lys351Gln)
c.1432A>C (p.Lys478Gln)
2g.48688111A>CCA346745241GTF2A1L,LHCGR,STON1-GTF2A1Lc.1686T>G (p.Asn562Lys)
c.976T>G (p.Ter326Glu)
c.3441+16431A>C (n.3441+16431A>C)
c.*430T>G (n.*430T>G)
c.1605T>G (p.Asn535Lys)
c.276+16431A>C (n.276+16431A>C)
c.*220+6113T>G (n.*220+6113T>G)
c.729T>G (p.Asn243Lys)
c.756T>G (p.Asn252Lys)
c.1611T>G (p.Asn537Lys)
c.1425T>G (p.Asn475Lys)
c.1344T>G (p.Asn448Lys)
c.1050T>G (p.Asn350Lys)
c.1431T>G (p.Asn477Lys)
2g.48688111A>GCA346745251GTF2A1L,LHCGR,STON1-GTF2A1Lc.1686T>C (p.Asn562=)
c.976T>C (p.Ter326Gln)
c.3441+16431A>G (n.3441+16431A>G)
c.*430T>C (n.*430T>C)
c.1605T>C (p.Asn535=)
c.276+16431A>G (n.276+16431A>G)
c.*220+6113T>C (n.*220+6113T>C)
c.729T>C (p.Asn243=)
c.756T>C (p.Asn252=)
c.1611T>C (p.Asn537=)
c.1425T>C (p.Asn475=)
c.1344T>C (p.Asn448=)
c.1050T>C (p.Asn350=)
c.1431T>C (p.Asn477=)
2g.48688111A>TCA346745247GTF2A1L,LHCGR,STON1-GTF2A1Lc.1686T>A (p.Asn562Lys)
c.976T>A (p.Ter326Lys)
c.3441+16431A>T (n.3441+16431A>T)
c.*430T>A (n.*430T>A)
c.1605T>A (p.Asn535Lys)
c.276+16431A>T (n.276+16431A>T)
c.*220+6113T>A (n.*220+6113T>A)
c.729T>A (p.Asn243Lys)
c.756T>A (p.Asn252Lys)
c.1611T>A (p.Asn537Lys)
c.1425T>A (p.Asn475Lys)
c.1344T>A (p.Asn448Lys)
c.1050T>A (p.Asn350Lys)
c.1431T>A (p.Asn477Lys)
2g.48688112T>ACA346745252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1685A>T (p.Asn562Ile)
c.975A>T (p.Gln325His)
c.3441+16432T>A (n.3441+16432T>A)
c.*429A>T (n.*429A>T)
c.1604A>T (p.Asn535Ile)
c.276+16432T>A (n.276+16432T>A)
c.*220+6112A>T (n.*220+6112A>T)
c.728A>T (p.Asn243Ile)
c.755A>T (p.Asn252Ile)
c.1610A>T (p.Asn537Ile)
c.1424A>T (p.Asn475Ile)
c.1343A>T (p.Asn448Ile)
c.1049A>T (p.Asn350Ile)
c.1430A>T (p.Asn477Ile)
2g.48688112T>CCA346745253GTF2A1L,LHCGR,STON1-GTF2A1Lc.1685A>G (p.Asn562Ser)
c.975A>G (p.Gln325=)
c.3441+16432T>C (n.3441+16432T>C)
c.*429A>G (n.*429A>G)
c.1604A>G (p.Asn535Ser)
c.276+16432T>C (n.276+16432T>C)
c.*220+6112A>G (n.*220+6112A>G)
c.728A>G (p.Asn243Ser)
c.755A>G (p.Asn252Ser)
c.1610A>G (p.Asn537Ser)
c.1424A>G (p.Asn475Ser)
c.1343A>G (p.Asn448Ser)
c.1049A>G (p.Asn350Ser)
c.1430A>G (p.Asn477Ser)
2g.48688112T>GCA346745254GTF2A1L,LHCGR,STON1-GTF2A1Lc.1685A>C (p.Asn562Thr)
c.975A>C (p.Gln325His)
c.3441+16432T>G (n.3441+16432T>G)
c.*429A>C (n.*429A>C)
c.1604A>C (p.Asn535Thr)
c.276+16432T>G (n.276+16432T>G)
c.*220+6112A>C (n.*220+6112A>C)
c.728A>C (p.Asn243Thr)
c.755A>C (p.Asn252Thr)
c.1610A>C (p.Asn537Thr)
c.1424A>C (p.Asn475Thr)
c.1343A>C (p.Asn448Thr)
c.1049A>C (p.Asn350Thr)
c.1430A>C (p.Asn477Thr)
2g.48688113T>ACA346745258GTF2A1L,LHCGR,STON1-GTF2A1Lc.1684A>T (p.Asn562Tyr)
c.974A>T (p.Gln325Leu)
c.3441+16433T>A (n.3441+16433T>A)
c.*428A>T (n.*428A>T)
c.1603A>T (p.Asn535Tyr)
c.276+16433T>A (n.276+16433T>A)
c.*220+6111A>T (n.*220+6111A>T)
c.727A>T (p.Asn243Tyr)
c.754A>T (p.Asn252Tyr)
c.1609A>T (p.Asn537Tyr)
c.1423A>T (p.Asn475Tyr)
c.1342A>T (p.Asn448Tyr)
c.1048A>T (p.Asn350Tyr)
c.1429A>T (p.Asn477Tyr)
2g.48688113T>CCA346745259GTF2A1L,LHCGR,STON1-GTF2A1Lc.1684A>G (p.Asn562Asp)
c.974A>G (p.Gln325Arg)
c.3441+16433T>C (n.3441+16433T>C)
c.*428A>G (n.*428A>G)
c.1603A>G (p.Asn535Asp)
c.276+16433T>C (n.276+16433T>C)
c.*220+6111A>G (n.*220+6111A>G)
c.727A>G (p.Asn243Asp)
c.754A>G (p.Asn252Asp)
c.1609A>G (p.Asn537Asp)
c.1423A>G (p.Asn475Asp)
c.1342A>G (p.Asn448Asp)
c.1048A>G (p.Asn350Asp)
c.1429A>G (p.Asn477Asp)
2g.48688113T>GCA346745260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1684A>C (p.Asn562His)
c.974A>C (p.Gln325Pro)
c.3441+16433T>G (n.3441+16433T>G)
c.*428A>C (n.*428A>C)
c.1603A>C (p.Asn535His)
c.276+16433T>G (n.276+16433T>G)
c.*220+6111A>C (n.*220+6111A>C)
c.727A>C (p.Asn243His)
c.754A>C (p.Asn252His)
c.1609A>C (p.Asn537His)
c.1423A>C (p.Asn475His)
c.1342A>C (p.Asn448His)
c.1048A>C (p.Asn350His)
c.1429A>C (p.Asn477His)
2g.48688114G>ACA346745263GTF2A1L,LHCGR,STON1-GTF2A1Lc.1683C>T (p.Thr561=)
c.973C>T (p.Gln325Ter)
c.3441+16434G>A (n.3441+16434G>A)
c.*427C>T (n.*427C>T)
c.1602C>T (p.Thr534=)
c.276+16434G>A (n.276+16434G>A)
c.*220+6110C>T (n.*220+6110C>T)
c.726C>T (p.Thr242=)
c.753C>T (p.Thr251=)
c.1608C>T (p.Thr536=)
c.1422C>T (p.Thr474=)
c.1341C>T (p.Thr447=)
c.1047C>T (p.Thr349=)
c.1428C>T (p.Thr476=)
2g.48688114G>CCA346745264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1683C>G (p.Thr561=)
c.973C>G (p.Gln325Glu)
c.3441+16434G>C (n.3441+16434G>C)
c.*427C>G (n.*427C>G)
c.1602C>G (p.Thr534=)
c.276+16434G>C (n.276+16434G>C)
c.*220+6110C>G (n.*220+6110C>G)
c.726C>G (p.Thr242=)
c.753C>G (p.Thr251=)
c.1608C>G (p.Thr536=)
c.1422C>G (p.Thr474=)
c.1341C>G (p.Thr447=)
c.1047C>G (p.Thr349=)
c.1428C>G (p.Thr476=)
2g.48688114G>TCA346745265GTF2A1L,LHCGR,STON1-GTF2A1Lc.1683C>A (p.Thr561=)
c.973C>A (p.Gln325Lys)
c.3441+16434G>T (n.3441+16434G>T)
c.*427C>A (n.*427C>A)
c.1602C>A (p.Thr534=)
c.276+16434G>T (n.276+16434G>T)
c.*220+6110C>A (n.*220+6110C>A)
c.726C>A (p.Thr242=)
c.753C>A (p.Thr251=)
c.1608C>A (p.Thr536=)
c.1422C>A (p.Thr474=)
c.1341C>A (p.Thr447=)
c.1047C>A (p.Thr349=)
c.1428C>A (p.Thr476=)
 gnomAD v4
2g.48688115G>ACA346745266GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C>T (p.Thr561Ile)
c.972C>T (p.Tyr324=)
c.3441+16435G>A (n.3441+16435G>A)
c.*426C>T (n.*426C>T)
c.1601C>T (p.Thr534Ile)
c.276+16435G>A (n.276+16435G>A)
c.*220+6109C>T (n.*220+6109C>T)
c.725C>T (p.Thr242Ile)
c.752C>T (p.Thr251Ile)
c.1607C>T (p.Thr536Ile)
c.1421C>T (p.Thr474Ile)
c.1340C>T (p.Thr447Ile)
c.1046C>T (p.Thr349Ile)
c.1427C>T (p.Thr476Ile)
 gnomAD v4
2g.48688115G>CCA346745267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C>G (p.Thr561Ser)
c.972C>G (p.Tyr324Ter)
c.3441+16435G>C (n.3441+16435G>C)
c.*426C>G (n.*426C>G)
c.1601C>G (p.Thr534Ser)
c.276+16435G>C (n.276+16435G>C)
c.*220+6109C>G (n.*220+6109C>G)
c.725C>G (p.Thr242Ser)
c.752C>G (p.Thr251Ser)
c.1607C>G (p.Thr536Ser)
c.1421C>G (p.Thr474Ser)
c.1340C>G (p.Thr447Ser)
c.1046C>G (p.Thr349Ser)
c.1427C>G (p.Thr476Ser)
2g.48688115G=CA1248600995GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C= (p.Thr561=)
c.972C= (p.Tyr324=)
c.3441+16435G= (n.3441+16435G=)
c.*426C= (n.*426C=)
c.1601C= (p.Thr534=)
c.276+16435G= (n.276+16435G=)
c.*220+6109C= (n.*220+6109C=)
c.725C= (p.Thr242=)
c.752C= (p.Thr251=)
c.1607C= (p.Thr536=)
c.1421C= (p.Thr474=)
c.1340C= (p.Thr447=)
c.1046C= (p.Thr349=)
c.1427C= (p.Thr476=)
2g.48688115G>TCA346745268GTF2A1L,LHCGR,STON1-GTF2A1Lc.1682C>A (p.Thr561Asn)
c.972C>A (p.Tyr324Ter)
c.3441+16435G>T (n.3441+16435G>T)
c.*426C>A (n.*426C>A)
c.1601C>A (p.Thr534Asn)
c.276+16435G>T (n.276+16435G>T)
c.*220+6109C>A (n.*220+6109C>A)
c.725C>A (p.Thr242Asn)
c.752C>A (p.Thr251Asn)
c.1607C>A (p.Thr536Asn)
c.1421C>A (p.Thr474Asn)
c.1340C>A (p.Thr447Asn)
c.1046C>A (p.Thr349Asn)
c.1427C>A (p.Thr476Asn)
 dbSNP
2g.48688115_48688116insCGGCCA2749836831GTF2A1L,LHCGR,STON1-GTF2A1Lc.1681_1682insGCCG (p.Thr561SerfsTer4)
c.971_972insGCCG (p.Tyr324Ter)
c.3441+16435_3441+16436insCGGC (n.3441+16435_3441+16436insCGGC)
c.*425_*426insGCCG (n.*425_*426insGCCG)
c.1600_1601insGCCG (p.Thr534SerfsTer4)
c.276+16435_276+16436insCGGC (n.276+16435_276+16436insCGGC)
c.*220+6108_*220+6109insGCCG (n.*220+6108_*220+6109insGCCG)
c.724_725insGCCG (p.Thr242SerfsTer4)
c.751_752insGCCG (p.Thr251SerfsTer4)
c.1606_1607insGCCG (p.Thr536SerfsTer4)
c.1420_1421insGCCG (p.Thr474SerfsTer4)
c.1339_1340insGCCG (p.Thr447SerfsTer4)
c.1045_1046insGCCG (p.Thr349SerfsTer4)
c.1426_1427insGCCG (p.Thr476SerfsTer4)
2g.48688116T>ACA346745274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1681A>T (p.Thr561Ser)
c.971A>T (p.Tyr324Phe)
c.3441+16436T>A (n.3441+16436T>A)
c.*425A>T (n.*425A>T)
c.1600A>T (p.Thr534Ser)
c.276+16436T>A (n.276+16436T>A)
c.*220+6108A>T (n.*220+6108A>T)
c.724A>T (p.Thr242Ser)
c.751A>T (p.Thr251Ser)
c.1606A>T (p.Thr536Ser)
c.1420A>T (p.Thr474Ser)
c.1339A>T (p.Thr447Ser)
c.1045A>T (p.Thr349Ser)
c.1426A>T (p.Thr476Ser)
 gnomAD v4
2g.48688116T>CCA346745284GTF2A1L,LHCGR,STON1-GTF2A1Lc.1681A>G (p.Thr561Ala)
c.971A>G (p.Tyr324Cys)
c.3441+16436T>C (n.3441+16436T>C)
c.*425A>G (n.*425A>G)
c.1600A>G (p.Thr534Ala)
c.276+16436T>C (n.276+16436T>C)
c.*220+6108A>G (n.*220+6108A>G)
c.724A>G (p.Thr242Ala)
c.751A>G (p.Thr251Ala)
c.1606A>G (p.Thr536Ala)
c.1420A>G (p.Thr474Ala)
c.1339A>G (p.Thr447Ala)
c.1045A>G (p.Thr349Ala)
c.1426A>G (p.Thr476Ala)
 dbSNP gnomAD v4
2g.48688116T>GCA346745280GTF2A1L,LHCGR,STON1-GTF2A1Lc.1681A>C (p.Thr561Pro)
c.971A>C (p.Tyr324Ser)
c.3441+16436T>G (n.3441+16436T>G)
c.*425A>C (n.*425A>C)
c.1600A>C (p.Thr534Pro)
c.276+16436T>G (n.276+16436T>G)
c.*220+6108A>C (n.*220+6108A>C)
c.724A>C (p.Thr242Pro)
c.751A>C (p.Thr251Pro)
c.1606A>C (p.Thr536Pro)
c.1420A>C (p.Thr474Pro)
c.1339A>C (p.Thr447Pro)
c.1045A>C (p.Thr349Pro)
c.1426A>C (p.Thr476Pro)
2g.48688116T=CA1248600996GTF2A1L,LHCGR,STON1-GTF2A1Lc.1681A= (p.Thr561=)
c.971A= (p.Tyr324=)
c.3441+16436T= (n.3441+16436T=)
c.*425A= (n.*425A=)
c.1600A= (p.Thr534=)
c.276+16436T= (n.276+16436T=)
c.*220+6108A= (n.*220+6108A=)
c.724A= (p.Thr242=)
c.751A= (p.Thr251=)
c.1606A= (p.Thr536=)
c.1420A= (p.Thr474=)
c.1339A= (p.Thr447=)
c.1045A= (p.Thr349=)
c.1426A= (p.Thr476=)
2g.48688117A>CCA346745285GTF2A1L,LHCGR,STON1-GTF2A1Lc.1680T>G (p.Ala560=)
c.970T>G (p.Tyr324Asp)
c.3441+16437A>C (n.3441+16437A>C)
c.*424T>G (n.*424T>G)
c.1599T>G (p.Ala533=)
c.276+16437A>C (n.276+16437A>C)
c.*220+6107T>G (n.*220+6107T>G)
c.723T>G (p.Ala241=)
c.750T>G (p.Ala250=)
c.1605T>G (p.Ala535=)
c.1419T>G (p.Ala473=)
c.1338T>G (p.Ala446=)
c.1044T>G (p.Ala348=)
c.1425T>G (p.Ala475=)
2g.48688117A>GCA346745297GTF2A1L,LHCGR,STON1-GTF2A1Lc.1680T>C (p.Ala560=)
c.970T>C (p.Tyr324His)
c.3441+16437A>G (n.3441+16437A>G)
c.*424T>C (n.*424T>C)
c.1599T>C (p.Ala533=)
c.276+16437A>G (n.276+16437A>G)
c.*220+6107T>C (n.*220+6107T>C)
c.723T>C (p.Ala241=)
c.750T>C (p.Ala250=)
c.1605T>C (p.Ala535=)
c.1419T>C (p.Ala473=)
c.1338T>C (p.Ala446=)
c.1044T>C (p.Ala348=)
c.1425T>C (p.Ala475=)
2g.48688117A>TCA346745299GTF2A1L,LHCGR,STON1-GTF2A1Lc.1680T>A (p.Ala560=)
c.970T>A (p.Tyr324Asn)
c.3441+16437A>T (n.3441+16437A>T)
c.*424T>A (n.*424T>A)
c.1599T>A (p.Ala533=)
c.276+16437A>T (n.276+16437A>T)
c.*220+6107T>A (n.*220+6107T>A)
c.723T>A (p.Ala241=)
c.750T>A (p.Ala250=)
c.1605T>A (p.Ala535=)
c.1419T>A (p.Ala473=)
c.1338T>A (p.Ala446=)
c.1044T>A (p.Ala348=)
c.1425T>A (p.Ala475=)
2g.48688117_48688118insCCACA2749836832GTF2A1L,LHCGR,STON1-GTF2A1Lc.1680_1681insGGT (p.Ala560_Thr561insGly)
c.970_971insGGT (p.Gly323_Tyr324insTrp)
c.3441+16437_3441+16438insCCA (n.3441+16437_3441+16438insCCA)
c.*424_*425insGGT (n.*424_*425insGGT)
c.1599_1600insGGT (p.Ala533_Thr534insGly)
c.276+16437_276+16438insCCA (n.276+16437_276+16438insCCA)
c.*220+6107_*220+6108insGGT (n.*220+6107_*220+6108insGGT)
c.723_724insGGT (p.Ala241_Thr242insGly)
c.750_751insGGT (p.Ala250_Thr251insGly)
c.1605_1606insGGT (p.Ala535_Thr536insGly)
c.1419_1420insGGT (p.Ala473_Thr474insGly)
c.1338_1339insGGT (p.Ala446_Thr447insGly)
c.1044_1045insGGT (p.Ala348_Thr349insGly)
c.1425_1426insGGT (p.Ala475_Thr476insGly)
2g.48688118G>ACA346745300GTF2A1L,LHCGR,STON1-GTF2A1Lc.1679C>T (p.Ala560Val)
c.969C>T (p.Gly323=)
c.3441+16438G>A (n.3441+16438G>A)
c.*423C>T (n.*423C>T)
c.1598C>T (p.Ala533Val)
c.276+16438G>A (n.276+16438G>A)
c.*220+6106C>T (n.*220+6106C>T)
c.722C>T (p.Ala241Val)
c.749C>T (p.Ala250Val)
c.1604C>T (p.Ala535Val)
c.1418C>T (p.Ala473Val)
c.1337C>T (p.Ala446Val)
c.1043C>T (p.Ala348Val)
c.1424C>T (p.Ala475Val)
2g.48688118G>CCA346745301GTF2A1L,LHCGR,STON1-GTF2A1Lc.1679C>G (p.Ala560Gly)
c.969C>G (p.Gly323=)
c.3441+16438G>C (n.3441+16438G>C)
c.*423C>G (n.*423C>G)
c.1598C>G (p.Ala533Gly)
c.276+16438G>C (n.276+16438G>C)
c.*220+6106C>G (n.*220+6106C>G)
c.722C>G (p.Ala241Gly)
c.749C>G (p.Ala250Gly)
c.1604C>G (p.Ala535Gly)
c.1418C>G (p.Ala473Gly)
c.1337C>G (p.Ala446Gly)
c.1043C>G (p.Ala348Gly)
c.1424C>G (p.Ala475Gly)
2g.48688118G>TCA346745303GTF2A1L,LHCGR,STON1-GTF2A1Lc.1679C>A (p.Ala560Asp)
c.969C>A (p.Gly323=)
c.3441+16438G>T (n.3441+16438G>T)
c.*423C>A (n.*423C>A)
c.1598C>A (p.Ala533Asp)
c.276+16438G>T (n.276+16438G>T)
c.*220+6106C>A (n.*220+6106C>A)
c.722C>A (p.Ala241Asp)
c.749C>A (p.Ala250Asp)
c.1604C>A (p.Ala535Asp)
c.1418C>A (p.Ala473Asp)
c.1337C>A (p.Ala446Asp)
c.1043C>A (p.Ala348Asp)
c.1424C>A (p.Ala475Asp)
2g.48688119C>ACA346745308GTF2A1L,LHCGR,STON1-GTF2A1Lc.1678G>T (p.Ala560Ser)
c.968G>T (p.Gly323Val)
c.3441+16439C>A (n.3441+16439C>A)
c.*422G>T (n.*422G>T)
c.1597G>T (p.Ala533Ser)
c.276+16439C>A (n.276+16439C>A)
c.*220+6105G>T (n.*220+6105G>T)
c.721G>T (p.Ala241Ser)
c.748G>T (p.Ala250Ser)
c.1603G>T (p.Ala535Ser)
c.1417G>T (p.Ala473Ser)
c.1336G>T (p.Ala446Ser)
c.1042G>T (p.Ala348Ser)
c.1423G>T (p.Ala475Ser)
 gnomAD v4
2g.48688119C=CA1248600997GTF2A1L,LHCGR,STON1-GTF2A1Lc.1678G= (p.Ala560=)
c.968G= (p.Gly323=)
c.3441+16439C= (n.3441+16439C=)
c.*422G= (n.*422G=)
c.1597G= (p.Ala533=)
c.276+16439C= (n.276+16439C=)
c.*220+6105G= (n.*220+6105G=)
c.721G= (p.Ala241=)
c.748G= (p.Ala250=)
c.1603G= (p.Ala535=)
c.1417G= (p.Ala473=)
c.1336G= (p.Ala446=)
c.1042G= (p.Ala348=)
c.1423G= (p.Ala475=)
2g.48688119C>GCA1653003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1678G>C (p.Ala560Pro)
c.968G>C (p.Gly323Ala)
c.3441+16439C>G (n.3441+16439C>G)
c.*422G>C (n.*422G>C)
c.1597G>C (p.Ala533Pro)
c.276+16439C>G (n.276+16439C>G)
c.*220+6105G>C (n.*220+6105G>C)
c.721G>C (p.Ala241Pro)
c.748G>C (p.Ala250Pro)
c.1603G>C (p.Ala535Pro)
c.1417G>C (p.Ala473Pro)
c.1336G>C (p.Ala446Pro)
c.1042G>C (p.Ala348Pro)
c.1423G>C (p.Ala475Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688119C>TCA346745320GTF2A1L,LHCGR,STON1-GTF2A1Lc.1678G>A (p.Ala560Thr)
c.968G>A (p.Gly323Asp)
c.3441+16439C>T (n.3441+16439C>T)
c.*422G>A (n.*422G>A)
c.1597G>A (p.Ala533Thr)
c.276+16439C>T (n.276+16439C>T)
c.*220+6105G>A (n.*220+6105G>A)
c.721G>A (p.Ala241Thr)
c.748G>A (p.Ala250Thr)
c.1603G>A (p.Ala535Thr)
c.1417G>A (p.Ala473Thr)
c.1336G>A (p.Ala446Thr)
c.1042G>A (p.Ala348Thr)
c.1423G>A (p.Ala475Thr)
2g.48688120C>ACA346745326GTF2A1L,LHCGR,STON1-GTF2A1Lc.1677G>T (p.Met559Ile)
c.967G>T (p.Gly323Cys)
c.3441+16440C>A (n.3441+16440C>A)
c.*421G>T (n.*421G>T)
c.1596G>T (p.Met532Ile)
c.276+16440C>A (n.276+16440C>A)
c.*220+6104G>T (n.*220+6104G>T)
c.720G>T (p.Met240Ile)
c.747G>T (p.Met249Ile)
c.1602G>T (p.Met534Ile)
c.1416G>T (p.Met472Ile)
c.1335G>T (p.Met445Ile)
c.1041G>T (p.Met347Ile)
c.1422G>T (p.Met474Ile)
2g.48688120C>GCA346745330GTF2A1L,LHCGR,STON1-GTF2A1Lc.1677G>C (p.Met559Ile)
c.967G>C (p.Gly323Arg)
c.3441+16440C>G (n.3441+16440C>G)
c.*421G>C (n.*421G>C)
c.1596G>C (p.Met532Ile)
c.276+16440C>G (n.276+16440C>G)
c.*220+6104G>C (n.*220+6104G>C)
c.720G>C (p.Met240Ile)
c.747G>C (p.Met249Ile)
c.1602G>C (p.Met534Ile)
c.1416G>C (p.Met472Ile)
c.1335G>C (p.Met445Ile)
c.1041G>C (p.Met347Ile)
c.1422G>C (p.Met474Ile)
2g.48688120C>TCA346745332GTF2A1L,LHCGR,STON1-GTF2A1Lc.1677G>A (p.Met559Ile)
c.967G>A (p.Gly323Ser)
c.3441+16440C>T (n.3441+16440C>T)
c.*421G>A (n.*421G>A)
c.1596G>A (p.Met532Ile)
c.276+16440C>T (n.276+16440C>T)
c.*220+6104G>A (n.*220+6104G>A)
c.720G>A (p.Met240Ile)
c.747G>A (p.Met249Ile)
c.1602G>A (p.Met534Ile)
c.1416G>A (p.Met472Ile)
c.1335G>A (p.Met445Ile)
c.1041G>A (p.Met347Ile)
c.1422G>A (p.Met474Ile)
2g.48688120_48688126delCA2749836833GTF2A1L,LHCGR,STON1-GTF2A1Lc.1671_1677del (p.Met559ProfsTer?)
c.961_967del (p.Ile321AlafsTer?)
c.3441+16440_3441+16446del (n.3441+16440_3441+16446del)
c.*415_*421del (n.*415_*421del)
c.1590_1596del (p.Met532ProfsTer?)
c.276+16440_276+16446del (n.276+16440_276+16446del)
c.*220+6098_*220+6104del (n.*220+6098_*220+6104del)
c.714_720del (p.Met240ProfsTer?)
c.741_747del (p.Met249ProfsTer?)
c.1596_1602del (p.Met534ProfsTer?)
c.1410_1416del (p.Met472ProfsTer?)
c.1329_1335del (p.Met445ProfsTer?)
c.1035_1041del (p.Met347ProfsTer?)
c.1416_1422del (p.Met474ProfsTer?)
2g.48688121A=CA1248600998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1676T= (p.Met559=)
c.966T= (p.Asn322=)
c.3441+16441A= (n.3441+16441A=)
c.*420T= (n.*420T=)
c.1595T= (p.Met532=)
c.276+16441A= (n.276+16441A=)
c.*220+6103T= (n.*220+6103T=)
c.719T= (p.Met240=)
c.746T= (p.Met249=)
c.1601T= (p.Met534=)
c.1415T= (p.Met472=)
c.1334T= (p.Met445=)
c.1040T= (p.Met347=)
c.1421T= (p.Met474=)
2g.48688121A>CCA346745339GTF2A1L,LHCGR,STON1-GTF2A1Lc.1676T>G (p.Met559Arg)
c.966T>G (p.Asn322Lys)
c.3441+16441A>C (n.3441+16441A>C)
c.*420T>G (n.*420T>G)
c.1595T>G (p.Met532Arg)
c.276+16441A>C (n.276+16441A>C)
c.*220+6103T>G (n.*220+6103T>G)
c.719T>G (p.Met240Arg)
c.746T>G (p.Met249Arg)
c.1601T>G (p.Met534Arg)
c.1415T>G (p.Met472Arg)
c.1334T>G (p.Met445Arg)
c.1040T>G (p.Met347Arg)
c.1421T>G (p.Met474Arg)
2g.48688121A>GCA346745334GTF2A1L,LHCGR,STON1-GTF2A1Lc.1676T>C (p.Met559Thr)
c.966T>C (p.Asn322=)
c.3441+16441A>G (n.3441+16441A>G)
c.*420T>C (n.*420T>C)
c.1595T>C (p.Met532Thr)
c.276+16441A>G (n.276+16441A>G)
c.*220+6103T>C (n.*220+6103T>C)
c.719T>C (p.Met240Thr)
c.746T>C (p.Met249Thr)
c.1601T>C (p.Met534Thr)
c.1415T>C (p.Met472Thr)
c.1334T>C (p.Met445Thr)
c.1040T>C (p.Met347Thr)
c.1421T>C (p.Met474Thr)
 gnomAD v4
2g.48688121A>TCA346745335GTF2A1L,LHCGR,STON1-GTF2A1Lc.1676T>A (p.Met559Lys)
c.966T>A (p.Asn322Lys)
c.3441+16441A>T (n.3441+16441A>T)
c.*420T>A (n.*420T>A)
c.1595T>A (p.Met532Lys)
c.276+16441A>T (n.276+16441A>T)
c.*220+6103T>A (n.*220+6103T>A)
c.719T>A (p.Met240Lys)
c.746T>A (p.Met249Lys)
c.1601T>A (p.Met534Lys)
c.1415T>A (p.Met472Lys)
c.1334T>A (p.Met445Lys)
c.1040T>A (p.Met347Lys)
c.1421T>A (p.Met474Lys)
2g.48688121_48688122insACTCTAAAGTTCA916530537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1675_1676insAACTTTAGAGT (p.Met559LysfsTer3)
c.965_966insAACTTTAGAGT (p.Asn322LysfsTer?)
c.3441+16441_3441+16442insACTCTAAAGTT (n.3441+16441_3441+16442insACTCTAAAGTT)
c.*419_*420insAACTTTAGAGT (n.*419_*420insAACTTTAGAGT)
c.1594_1595insAACTTTAGAGT (p.Met532LysfsTer3)
c.276+16441_276+16442insACTCTAAAGTT (n.276+16441_276+16442insACTCTAAAGTT)
c.*220+6102_*220+6103insAACTTTAGAGT (n.*220+6102_*220+6103insAACTTTAGAGT)
c.718_719insAACTTTAGAGT (p.Met240LysfsTer3)
c.745_746insAACTTTAGAGT (p.Met249LysfsTer3)
c.1600_1601insAACTTTAGAGT (p.Met534LysfsTer3)
c.1414_1415insAACTTTAGAGT (p.Met472LysfsTer3)
c.1333_1334insAACTTTAGAGT (p.Met445LysfsTer3)
c.1039_1040insAACTTTAGAGT (p.Met347LysfsTer3)
c.1420_1421insAACTTTAGAGT (p.Met474LysfsTer3)
 dbSNP
2g.48688122T>ACA346745341GTF2A1L,LHCGR,STON1-GTF2A1Lc.1675A>T (p.Met559Leu)
c.965A>T (p.Asn322Ile)
c.3441+16442T>A (n.3441+16442T>A)
c.*419A>T (n.*419A>T)
c.1594A>T (p.Met532Leu)
c.276+16442T>A (n.276+16442T>A)
c.*220+6102A>T (n.*220+6102A>T)
c.718A>T (p.Met240Leu)
c.745A>T (p.Met249Leu)
c.1600A>T (p.Met534Leu)
c.1414A>T (p.Met472Leu)
c.1333A>T (p.Met445Leu)
c.1039A>T (p.Met347Leu)
c.1420A>T (p.Met474Leu)
2g.48688122T>CCA346745344GTF2A1L,LHCGR,STON1-GTF2A1Lc.1675A>G (p.Met559Val)
c.965A>G (p.Asn322Ser)
c.3441+16442T>C (n.3441+16442T>C)
c.*419A>G (n.*419A>G)
c.1594A>G (p.Met532Val)
c.276+16442T>C (n.276+16442T>C)
c.*220+6102A>G (n.*220+6102A>G)
c.718A>G (p.Met240Val)
c.745A>G (p.Met249Val)
c.1600A>G (p.Met534Val)
c.1414A>G (p.Met472Val)
c.1333A>G (p.Met445Val)
c.1039A>G (p.Met347Val)
c.1420A>G (p.Met474Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688122T>GCA346745350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1675A>C (p.Met559Leu)
c.965A>C (p.Asn322Thr)
c.3441+16442T>G (n.3441+16442T>G)
c.*419A>C (n.*419A>C)
c.1594A>C (p.Met532Leu)
c.276+16442T>G (n.276+16442T>G)
c.*220+6102A>C (n.*220+6102A>C)
c.718A>C (p.Met240Leu)
c.745A>C (p.Met249Leu)
c.1600A>C (p.Met534Leu)
c.1414A>C (p.Met472Leu)
c.1333A>C (p.Met445Leu)
c.1039A>C (p.Met347Leu)
c.1420A>C (p.Met474Leu)
2g.48688122T=CA1248600999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1675A= (p.Met559=)
c.965A= (p.Asn322=)
c.3441+16442T= (n.3441+16442T=)
c.*419A= (n.*419A=)
c.1594A= (p.Met532=)
c.276+16442T= (n.276+16442T=)
c.*220+6102A= (n.*220+6102A=)
c.718A= (p.Met240=)
c.745A= (p.Met249=)
c.1600A= (p.Met534=)
c.1414A= (p.Met472=)
c.1333A= (p.Met445=)
c.1039A= (p.Met347=)
c.1420A= (p.Met474=)
2g.48688123T>ACA346745354GTF2A1L,LHCGR,STON1-GTF2A1Lc.1674A>T (p.Leu558Phe)
c.964A>T (p.Asn322Tyr)
c.3441+16443T>A (n.3441+16443T>A)
c.*418A>T (n.*418A>T)
c.1593A>T (p.Leu531Phe)
c.276+16443T>A (n.276+16443T>A)
c.*220+6101A>T (n.*220+6101A>T)
c.717A>T (p.Leu239Phe)
c.744A>T (p.Leu248Phe)
c.1599A>T (p.Leu533Phe)
c.1413A>T (p.Leu471Phe)
c.1332A>T (p.Leu444Phe)
c.1038A>T (p.Leu346Phe)
c.1419A>T (p.Leu473Phe)
2g.48688123T>CCA346745355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1674A>G (p.Leu558=)
c.964A>G (p.Asn322Asp)
c.3441+16443T>C (n.3441+16443T>C)
c.*418A>G (n.*418A>G)
c.1593A>G (p.Leu531=)
c.276+16443T>C (n.276+16443T>C)
c.*220+6101A>G (n.*220+6101A>G)
c.717A>G (p.Leu239=)
c.744A>G (p.Leu248=)
c.1599A>G (p.Leu533=)
c.1413A>G (p.Leu471=)
c.1332A>G (p.Leu444=)
c.1038A>G (p.Leu346=)
c.1419A>G (p.Leu473=)
 gnomAD v3 gnomAD v4
2g.48688123T>GCA346745356GTF2A1L,LHCGR,STON1-GTF2A1Lc.1674A>C (p.Leu558Phe)
c.964A>C (p.Asn322His)
c.3441+16443T>G (n.3441+16443T>G)
c.*418A>C (n.*418A>C)
c.1593A>C (p.Leu531Phe)
c.276+16443T>G (n.276+16443T>G)
c.*220+6101A>C (n.*220+6101A>C)
c.717A>C (p.Leu239Phe)
c.744A>C (p.Leu248Phe)
c.1599A>C (p.Leu533Phe)
c.1413A>C (p.Leu471Phe)
c.1332A>C (p.Leu444Phe)
c.1038A>C (p.Leu346Phe)
c.1419A>C (p.Leu473Phe)
2g.48688124A>CCA346745362GTF2A1L,LHCGR,STON1-GTF2A1Lc.1673T>G (p.Leu558Ter)
c.963T>G (p.Ile321Met)
c.3441+16444A>C (n.3441+16444A>C)
c.*417T>G (n.*417T>G)
c.1592T>G (p.Leu531Ter)
c.276+16444A>C (n.276+16444A>C)
c.*220+6100T>G (n.*220+6100T>G)
c.716T>G (p.Leu239Ter)
c.743T>G (p.Leu248Ter)
c.1598T>G (p.Leu533Ter)
c.1412T>G (p.Leu471Ter)
c.1331T>G (p.Leu444Ter)
c.1037T>G (p.Leu346Ter)
c.1418T>G (p.Leu473Ter)
2g.48688124A>GCA346745367GTF2A1L,LHCGR,STON1-GTF2A1Lc.1673T>C (p.Leu558Ser)
c.963T>C (p.Ile321=)
c.3441+16444A>G (n.3441+16444A>G)
c.*417T>C (n.*417T>C)
c.1592T>C (p.Leu531Ser)
c.276+16444A>G (n.276+16444A>G)
c.*220+6100T>C (n.*220+6100T>C)
c.716T>C (p.Leu239Ser)
c.743T>C (p.Leu248Ser)
c.1598T>C (p.Leu533Ser)
c.1412T>C (p.Leu471Ser)
c.1331T>C (p.Leu444Ser)
c.1037T>C (p.Leu346Ser)
c.1418T>C (p.Leu473Ser)
2g.48688124A>TCA346745369GTF2A1L,LHCGR,STON1-GTF2A1Lc.1673T>A (p.Leu558Ter)
c.963T>A (p.Ile321=)
c.3441+16444A>T (n.3441+16444A>T)
c.*417T>A (n.*417T>A)
c.1592T>A (p.Leu531Ter)
c.276+16444A>T (n.276+16444A>T)
c.*220+6100T>A (n.*220+6100T>A)
c.716T>A (p.Leu239Ter)
c.743T>A (p.Leu248Ter)
c.1598T>A (p.Leu533Ter)
c.1412T>A (p.Leu471Ter)
c.1331T>A (p.Leu444Ter)
c.1037T>A (p.Leu346Ter)
c.1418T>A (p.Leu473Ter)
2g.48688125A=CA1248601000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1672T= (p.Leu558=)
c.962T= (p.Ile321=)
c.3441+16445A= (n.3441+16445A=)
c.*416T= (n.*416T=)
c.1591T= (p.Leu531=)
c.276+16445A= (n.276+16445A=)
c.*220+6099T= (n.*220+6099T=)
c.715T= (p.Leu239=)
c.742T= (p.Leu248=)
c.1597T= (p.Leu533=)
c.1411T= (p.Leu471=)
c.1330T= (p.Leu444=)
c.1036T= (p.Leu346=)
c.1417T= (p.Leu473=)
2g.48688125A>CCA346745371GTF2A1L,LHCGR,STON1-GTF2A1Lc.1672T>G (p.Leu558Val)
c.962T>G (p.Ile321Ser)
c.3441+16445A>C (n.3441+16445A>C)
c.*416T>G (n.*416T>G)
c.1591T>G (p.Leu531Val)
c.276+16445A>C (n.276+16445A>C)
c.*220+6099T>G (n.*220+6099T>G)
c.715T>G (p.Leu239Val)
c.742T>G (p.Leu248Val)
c.1597T>G (p.Leu533Val)
c.1411T>G (p.Leu471Val)
c.1330T>G (p.Leu444Val)
c.1036T>G (p.Leu346Val)
c.1417T>G (p.Leu473Val)
2g.48688125A>GCA46752846GTF2A1L,LHCGR,STON1-GTF2A1Lc.1672T>C (p.Leu558=)
c.962T>C (p.Ile321Thr)
c.3441+16445A>G (n.3441+16445A>G)
c.*416T>C (n.*416T>C)
c.1591T>C (p.Leu531=)
c.276+16445A>G (n.276+16445A>G)
c.*220+6099T>C (n.*220+6099T>C)
c.715T>C (p.Leu239=)
c.742T>C (p.Leu248=)
c.1597T>C (p.Leu533=)
c.1411T>C (p.Leu471=)
c.1330T>C (p.Leu444=)
c.1036T>C (p.Leu346=)
c.1417T>C (p.Leu473=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688125A>TCA346745375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1672T>A (p.Leu558Ile)
c.962T>A (p.Ile321Asn)
c.3441+16445A>T (n.3441+16445A>T)
c.*416T>A (n.*416T>A)
c.1591T>A (p.Leu531Ile)
c.276+16445A>T (n.276+16445A>T)
c.*220+6099T>A (n.*220+6099T>A)
c.715T>A (p.Leu239Ile)
c.742T>A (p.Leu248Ile)
c.1597T>A (p.Leu533Ile)
c.1411T>A (p.Leu471Ile)
c.1330T>A (p.Leu444Ile)
c.1036T>A (p.Leu346Ile)
c.1417T>A (p.Leu473Ile)
2g.48688126T>ACA346745380GTF2A1L,LHCGR,STON1-GTF2A1Lc.1671A>T (p.Glu557Asp)
c.961A>T (p.Ile321Phe)
c.3441+16446T>A (n.3441+16446T>A)
c.*415A>T (n.*415A>T)
c.1590A>T (p.Glu530Asp)
c.276+16446T>A (n.276+16446T>A)
c.*220+6098A>T (n.*220+6098A>T)
c.714A>T (p.Glu238Asp)
c.741A>T (p.Glu247Asp)
c.1596A>T (p.Glu532Asp)
c.1410A>T (p.Glu470Asp)
c.1329A>T (p.Glu443Asp)
c.1035A>T (p.Glu345Asp)
c.1416A>T (p.Glu472Asp)
2g.48688126T>CCA346745382GTF2A1L,LHCGR,STON1-GTF2A1Lc.1671A>G (p.Glu557=)
c.961A>G (p.Ile321Val)
c.3441+16446T>C (n.3441+16446T>C)
c.*415A>G (n.*415A>G)
c.1590A>G (p.Glu530=)
c.276+16446T>C (n.276+16446T>C)
c.*220+6098A>G (n.*220+6098A>G)
c.714A>G (p.Glu238=)
c.741A>G (p.Glu247=)
c.1596A>G (p.Glu532=)
c.1410A>G (p.Glu470=)
c.1329A>G (p.Glu443=)
c.1035A>G (p.Glu345=)
c.1416A>G (p.Glu472=)
2g.48688126T>GCA346745378GTF2A1L,LHCGR,STON1-GTF2A1Lc.1671A>C (p.Glu557Asp)
c.961A>C (p.Ile321Leu)
c.3441+16446T>G (n.3441+16446T>G)
c.*415A>C (n.*415A>C)
c.1590A>C (p.Glu530Asp)
c.276+16446T>G (n.276+16446T>G)
c.*220+6098A>C (n.*220+6098A>C)
c.714A>C (p.Glu238Asp)
c.741A>C (p.Glu247Asp)
c.1596A>C (p.Glu532Asp)
c.1410A>C (p.Glu470Asp)
c.1329A>C (p.Glu443Asp)
c.1035A>C (p.Glu345Asp)
c.1416A>C (p.Glu472Asp)
2g.48688127T>ACA346745387GTF2A1L,LHCGR,STON1-GTF2A1Lc.1670A>T (p.Glu557Val)
c.960A>T (p.Arg320Ser)
c.3441+16447T>A (n.3441+16447T>A)
c.*414A>T (n.*414A>T)
c.1589A>T (p.Glu530Val)
c.276+16447T>A (n.276+16447T>A)
c.*220+6097A>T (n.*220+6097A>T)
c.713A>T (p.Glu238Val)
c.740A>T (p.Glu247Val)
c.1595A>T (p.Glu532Val)
c.1409A>T (p.Glu470Val)
c.1328A>T (p.Glu443Val)
c.1034A>T (p.Glu345Val)
c.1415A>T (p.Glu472Val)
2g.48688127T>CCA346745385GTF2A1L,LHCGR,STON1-GTF2A1Lc.1670A>G (p.Glu557Gly)
c.960A>G (p.Arg320=)
c.3441+16447T>C (n.3441+16447T>C)
c.*414A>G (n.*414A>G)
c.1589A>G (p.Glu530Gly)
c.276+16447T>C (n.276+16447T>C)
c.*220+6097A>G (n.*220+6097A>G)
c.713A>G (p.Glu238Gly)
c.740A>G (p.Glu247Gly)
c.1595A>G (p.Glu532Gly)
c.1409A>G (p.Glu470Gly)
c.1328A>G (p.Glu443Gly)
c.1034A>G (p.Glu345Gly)
c.1415A>G (p.Glu472Gly)
2g.48688127T>GCA346745390GTF2A1L,LHCGR,STON1-GTF2A1Lc.1670A>C (p.Glu557Ala)
c.960A>C (p.Arg320Ser)
c.3441+16447T>G (n.3441+16447T>G)
c.*414A>C (n.*414A>C)
c.1589A>C (p.Glu530Ala)
c.276+16447T>G (n.276+16447T>G)
c.*220+6097A>C (n.*220+6097A>C)
c.713A>C (p.Glu238Ala)
c.740A>C (p.Glu247Ala)
c.1595A>C (p.Glu532Ala)
c.1409A>C (p.Glu470Ala)
c.1328A>C (p.Glu443Ala)
c.1034A>C (p.Glu345Ala)
c.1415A>C (p.Glu472Ala)
2g.48688128C>ACA346745391GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G>T (p.Glu557Ter)
c.959G>T (p.Arg320Ile)
c.3441+16448C>A (n.3441+16448C>A)
c.*413G>T (n.*413G>T)
c.1588G>T (p.Glu530Ter)
c.276+16448C>A (n.276+16448C>A)
c.*220+6096G>T (n.*220+6096G>T)
c.712G>T (p.Glu238Ter)
c.739G>T (p.Glu247Ter)
c.1594G>T (p.Glu532Ter)
c.1408G>T (p.Glu470Ter)
c.1327G>T (p.Glu443Ter)
c.1033G>T (p.Glu345Ter)
c.1414G>T (p.Glu472Ter)
 COSMIC
2g.48688128C=CA1248601001GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G= (p.Glu557=)
c.959G= (p.Arg320=)
c.3441+16448C= (n.3441+16448C=)
c.*413G= (n.*413G=)
c.1588G= (p.Glu530=)
c.276+16448C= (n.276+16448C=)
c.*220+6096G= (n.*220+6096G=)
c.712G= (p.Glu238=)
c.739G= (p.Glu247=)
c.1594G= (p.Glu532=)
c.1408G= (p.Glu470=)
c.1327G= (p.Glu443=)
c.1033G= (p.Glu345=)
c.1414G= (p.Glu472=)
2g.48688128C>GCA346745396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G>C (p.Glu557Gln)
c.959G>C (p.Arg320Thr)
c.3441+16448C>G (n.3441+16448C>G)
c.*413G>C (n.*413G>C)
c.1588G>C (p.Glu530Gln)
c.276+16448C>G (n.276+16448C>G)
c.*220+6096G>C (n.*220+6096G>C)
c.712G>C (p.Glu238Gln)
c.739G>C (p.Glu247Gln)
c.1594G>C (p.Glu532Gln)
c.1408G>C (p.Glu470Gln)
c.1327G>C (p.Glu443Gln)
c.1033G>C (p.Glu345Gln)
c.1414G>C (p.Glu472Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.48688128C>TCA1653004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1669G>A (p.Glu557Lys)
c.959G>A (p.Arg320Lys)
c.3441+16448C>T (n.3441+16448C>T)
c.*413G>A (n.*413G>A)
c.1588G>A (p.Glu530Lys)
c.276+16448C>T (n.276+16448C>T)
c.*220+6096G>A (n.*220+6096G>A)
c.712G>A (p.Glu238Lys)
c.739G>A (p.Glu247Lys)
c.1594G>A (p.Glu532Lys)
c.1408G>A (p.Glu470Lys)
c.1327G>A (p.Glu443Lys)
c.1033G>A (p.Glu345Lys)
c.1414G>A (p.Glu472Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688129T>ACA346745406GTF2A1L,LHCGR,STON1-GTF2A1Lc.1668A>T (p.Pro556=)
c.958A>T (p.Arg320Ter)
c.3441+16449T>A (n.3441+16449T>A)
c.*412A>T (n.*412A>T)
c.1587A>T (p.Pro529=)
c.276+16449T>A (n.276+16449T>A)
c.*220+6095A>T (n.*220+6095A>T)
c.711A>T (p.Pro237=)
c.738A>T (p.Pro246=)
c.1593A>T (p.Pro531=)
c.1407A>T (p.Pro469=)
c.1326A>T (p.Pro442=)
c.1032A>T (p.Pro344=)
c.1413A>T (p.Pro471=)
2g.48688129T>CCA346745407GTF2A1L,LHCGR,STON1-GTF2A1Lc.1668A>G (p.Pro556=)
c.958A>G (p.Arg320Gly)
c.3441+16449T>C (n.3441+16449T>C)
c.*412A>G (n.*412A>G)
c.1587A>G (p.Pro529=)
c.276+16449T>C (n.276+16449T>C)
c.*220+6095A>G (n.*220+6095A>G)
c.711A>G (p.Pro237=)
c.738A>G (p.Pro246=)
c.1593A>G (p.Pro531=)
c.1407A>G (p.Pro469=)
c.1326A>G (p.Pro442=)
c.1032A>G (p.Pro344=)
c.1413A>G (p.Pro471=)
2g.48688129T>GCA426125017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1668A>C (p.Pro556=)
c.958A>C (p.Arg320=)
c.3441+16449T>G (n.3441+16449T>G)
c.*412A>C (n.*412A>C)
c.1587A>C (p.Pro529=)
c.276+16449T>G (n.276+16449T>G)
c.*220+6095A>C (n.*220+6095A>C)
c.711A>C (p.Pro237=)
c.738A>C (p.Pro246=)
c.1593A>C (p.Pro531=)
c.1407A>C (p.Pro469=)
c.1326A>C (p.Pro442=)
c.1032A>C (p.Pro344=)
c.1413A>C (p.Pro471=)
2g.48688130G>ACA346745411GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C>T (p.Pro556Leu)
c.957C>T (p.Pro319=)
c.3441+16450G>A (n.3441+16450G>A)
c.*411C>T (n.*411C>T)
c.1586C>T (p.Pro529Leu)
c.276+16450G>A (n.276+16450G>A)
c.*220+6094C>T (n.*220+6094C>T)
c.710C>T (p.Pro237Leu)
c.737C>T (p.Pro246Leu)
c.1592C>T (p.Pro531Leu)
c.1406C>T (p.Pro469Leu)
c.1325C>T (p.Pro442Leu)
c.1031C>T (p.Pro344Leu)
c.1412C>T (p.Pro471Leu)
 dbSNP
2g.48688130G>CCA346745412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C>G (p.Pro556Arg)
c.957C>G (p.Pro319=)
c.3441+16450G>C (n.3441+16450G>C)
c.*411C>G (n.*411C>G)
c.1586C>G (p.Pro529Arg)
c.276+16450G>C (n.276+16450G>C)
c.*220+6094C>G (n.*220+6094C>G)
c.710C>G (p.Pro237Arg)
c.737C>G (p.Pro246Arg)
c.1592C>G (p.Pro531Arg)
c.1406C>G (p.Pro469Arg)
c.1325C>G (p.Pro442Arg)
c.1031C>G (p.Pro344Arg)
c.1412C>G (p.Pro471Arg)
 dbSNP
2g.48688130G=CA1248601002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C= (p.Pro556=)
c.957C= (p.Pro319=)
c.3441+16450G= (n.3441+16450G=)
c.*411C= (n.*411C=)
c.1586C= (p.Pro529=)
c.276+16450G= (n.276+16450G=)
c.*220+6094C= (n.*220+6094C=)
c.710C= (p.Pro237=)
c.737C= (p.Pro246=)
c.1592C= (p.Pro531=)
c.1406C= (p.Pro469=)
c.1325C= (p.Pro442=)
c.1031C= (p.Pro344=)
c.1412C= (p.Pro471=)
2g.48688130G>TCA346745414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1667C>A (p.Pro556Gln)
c.957C>A (p.Pro319=)
c.3441+16450G>T (n.3441+16450G>T)
c.*411C>A (n.*411C>A)
c.1586C>A (p.Pro529Gln)
c.276+16450G>T (n.276+16450G>T)
c.*220+6094C>A (n.*220+6094C>A)
c.710C>A (p.Pro237Gln)
c.737C>A (p.Pro246Gln)
c.1592C>A (p.Pro531Gln)
c.1406C>A (p.Pro469Gln)
c.1325C>A (p.Pro442Gln)
c.1031C>A (p.Pro344Gln)
c.1412C>A (p.Pro471Gln)
 dbSNP
2g.48688131G>ACA346745418GTF2A1L,LHCGR,STON1-GTF2A1Lc.1666C>T (p.Pro556Ser)
c.956C>T (p.Pro319Leu)
c.3441+16451G>A (n.3441+16451G>A)
c.*410C>T (n.*410C>T)
c.1585C>T (p.Pro529Ser)
c.276+16451G>A (n.276+16451G>A)
c.*220+6093C>T (n.*220+6093C>T)
c.709C>T (p.Pro237Ser)
c.736C>T (p.Pro246Ser)
c.1591C>T (p.Pro531Ser)
c.1405C>T (p.Pro469Ser)
c.1324C>T (p.Pro442Ser)
c.1030C>T (p.Pro344Ser)
c.1411C>T (p.Pro471Ser)
2g.48688131G>CCA346745419GTF2A1L,LHCGR,STON1-GTF2A1Lc.1666C>G (p.Pro556Ala)
c.956C>G (p.Pro319Arg)
c.3441+16451G>C (n.3441+16451G>C)
c.*410C>G (n.*410C>G)
c.1585C>G (p.Pro529Ala)
c.276+16451G>C (n.276+16451G>C)
c.*220+6093C>G (n.*220+6093C>G)
c.709C>G (p.Pro237Ala)
c.736C>G (p.Pro246Ala)
c.1591C>G (p.Pro531Ala)
c.1405C>G (p.Pro469Ala)
c.1324C>G (p.Pro442Ala)
c.1030C>G (p.Pro344Ala)
c.1411C>G (p.Pro471Ala)
2g.48688131G>TCA346745421GTF2A1L,LHCGR,STON1-GTF2A1Lc.1666C>A (p.Pro556Thr)
c.956C>A (p.Pro319His)
c.3441+16451G>T (n.3441+16451G>T)
c.*410C>A (n.*410C>A)
c.1585C>A (p.Pro529Thr)
c.276+16451G>T (n.276+16451G>T)
c.*220+6093C>A (n.*220+6093C>A)
c.709C>A (p.Pro237Thr)
c.736C>A (p.Pro246Thr)
c.1591C>A (p.Pro531Thr)
c.1405C>A (p.Pro469Thr)
c.1324C>A (p.Pro442Thr)
c.1030C>A (p.Pro344Thr)
c.1411C>A (p.Pro471Thr)
2g.48688132G>ACA346745434GTF2A1L,LHCGR,STON1-GTF2A1Lc.1665C>T (p.Asn555=)
c.955C>T (p.Pro319Ser)
c.3441+16452G>A (n.3441+16452G>A)
c.*409C>T (n.*409C>T)
c.1584C>T (p.Asn528=)
c.276+16452G>A (n.276+16452G>A)
c.*220+6092C>T (n.*220+6092C>T)
c.708C>T (p.Asn236=)
c.735C>T (p.Asn245=)
c.1590C>T (p.Asn530=)
c.1404C>T (p.Asn468=)
c.1323C>T (p.Asn441=)
c.1029C>T (p.Asn343=)
c.1410C>T (p.Asn470=)
2g.48688132G>CCA346745432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1665C>G (p.Asn555Lys)
c.955C>G (p.Pro319Ala)
c.3441+16452G>C (n.3441+16452G>C)
c.*409C>G (n.*409C>G)
c.1584C>G (p.Asn528Lys)
c.276+16452G>C (n.276+16452G>C)
c.*220+6092C>G (n.*220+6092C>G)
c.708C>G (p.Asn236Lys)
c.735C>G (p.Asn245Lys)
c.1590C>G (p.Asn530Lys)
c.1404C>G (p.Asn468Lys)
c.1323C>G (p.Asn441Lys)
c.1029C>G (p.Asn343Lys)
c.1410C>G (p.Asn470Lys)
2g.48688132G>TCA346745426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1665C>A (p.Asn555Lys)
c.955C>A (p.Pro319Thr)
c.3441+16452G>T (n.3441+16452G>T)
c.*409C>A (n.*409C>A)
c.1584C>A (p.Asn528Lys)
c.276+16452G>T (n.276+16452G>T)
c.*220+6092C>A (n.*220+6092C>A)
c.708C>A (p.Asn236Lys)
c.735C>A (p.Asn245Lys)
c.1590C>A (p.Asn530Lys)
c.1404C>A (p.Asn468Lys)
c.1323C>A (p.Asn441Lys)
c.1029C>A (p.Asn343Lys)
c.1410C>A (p.Asn470Lys)
2g.48688133T>ACA346745437GTF2A1L,LHCGR,STON1-GTF2A1Lc.1664A>T (p.Asn555Ile)
c.954A>T (p.Lys318Asn)
c.3441+16453T>A (n.3441+16453T>A)
c.*408A>T (n.*408A>T)
c.1583A>T (p.Asn528Ile)
c.276+16453T>A (n.276+16453T>A)
c.*220+6091A>T (n.*220+6091A>T)
c.707A>T (p.Asn236Ile)
c.734A>T (p.Asn245Ile)
c.1589A>T (p.Asn530Ile)
c.1403A>T (p.Asn468Ile)
c.1322A>T (p.Asn441Ile)
c.1028A>T (p.Asn343Ile)
c.1409A>T (p.Asn470Ile)
2g.48688133T>CCA346745441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1664A>G (p.Asn555Ser)
c.954A>G (p.Lys318=)
c.3441+16453T>C (n.3441+16453T>C)
c.*408A>G (n.*408A>G)
c.1583A>G (p.Asn528Ser)
c.276+16453T>C (n.276+16453T>C)
c.*220+6091A>G (n.*220+6091A>G)
c.707A>G (p.Asn236Ser)
c.734A>G (p.Asn245Ser)
c.1589A>G (p.Asn530Ser)
c.1403A>G (p.Asn468Ser)
c.1322A>G (p.Asn441Ser)
c.1028A>G (p.Asn343Ser)
c.1409A>G (p.Asn470Ser)
2g.48688133T>GCA346745444GTF2A1L,LHCGR,STON1-GTF2A1Lc.1664A>C (p.Asn555Thr)
c.954A>C (p.Lys318Asn)
c.3441+16453T>G (n.3441+16453T>G)
c.*408A>C (n.*408A>C)
c.1583A>C (p.Asn528Thr)
c.276+16453T>G (n.276+16453T>G)
c.*220+6091A>C (n.*220+6091A>C)
c.707A>C (p.Asn236Thr)
c.734A>C (p.Asn245Thr)
c.1589A>C (p.Asn530Thr)
c.1403A>C (p.Asn468Thr)
c.1322A>C (p.Asn441Thr)
c.1028A>C (p.Asn343Thr)
c.1409A>C (p.Asn470Thr)
2g.48688134T>ACA346745446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1663A>T (p.Asn555Tyr)
c.953A>T (p.Lys318Ile)
c.3441+16454T>A (n.3441+16454T>A)
c.*407A>T (n.*407A>T)
c.1582A>T (p.Asn528Tyr)
c.276+16454T>A (n.276+16454T>A)
c.*220+6090A>T (n.*220+6090A>T)
c.706A>T (p.Asn236Tyr)
c.733A>T (p.Asn245Tyr)
c.1588A>T (p.Asn530Tyr)
c.1402A>T (p.Asn468Tyr)
c.1321A>T (p.Asn441Tyr)
c.1027A>T (p.Asn343Tyr)
c.1408A>T (p.Asn470Tyr)
2g.48688134T>CCA346745449GTF2A1L,LHCGR,STON1-GTF2A1Lc.1663A>G (p.Asn555Asp)
c.953A>G (p.Lys318Arg)
c.3441+16454T>C (n.3441+16454T>C)
c.*407A>G (n.*407A>G)
c.1582A>G (p.Asn528Asp)
c.276+16454T>C (n.276+16454T>C)
c.*220+6090A>G (n.*220+6090A>G)
c.706A>G (p.Asn236Asp)
c.733A>G (p.Asn245Asp)
c.1588A>G (p.Asn530Asp)
c.1402A>G (p.Asn468Asp)
c.1321A>G (p.Asn441Asp)
c.1027A>G (p.Asn343Asp)
c.1408A>G (p.Asn470Asp)
2g.48688134T>GCA346745453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1663A>C (p.Asn555His)
c.953A>C (p.Lys318Thr)
c.3441+16454T>G (n.3441+16454T>G)
c.*407A>C (n.*407A>C)
c.1582A>C (p.Asn528His)
c.276+16454T>G (n.276+16454T>G)
c.*220+6090A>C (n.*220+6090A>C)
c.706A>C (p.Asn236His)
c.733A>C (p.Asn245His)
c.1588A>C (p.Asn530His)
c.1402A>C (p.Asn468His)
c.1321A>C (p.Asn441His)
c.1027A>C (p.Asn343His)
c.1408A>C (p.Asn470His)
2g.48688135T>ACA346745457GTF2A1L,LHCGR,STON1-GTF2A1Lc.1662A>T (p.Arg554=)
c.952A>T (p.Lys318Ter)
c.3441+16455T>A (n.3441+16455T>A)
c.*406A>T (n.*406A>T)
c.1581A>T (p.Arg527=)
c.276+16455T>A (n.276+16455T>A)
c.*220+6089A>T (n.*220+6089A>T)
c.705A>T (p.Arg235=)
c.732A>T (p.Arg244=)
c.1587A>T (p.Arg529=)
c.1401A>T (p.Arg467=)
c.1320A>T (p.Arg440=)
c.1026A>T (p.Arg342=)
c.1407A>T (p.Arg469=)
2g.48688135T>CCA346745459GTF2A1L,LHCGR,STON1-GTF2A1Lc.1662A>G (p.Arg554=)
c.952A>G (p.Lys318Glu)
c.3441+16455T>C (n.3441+16455T>C)
c.*406A>G (n.*406A>G)
c.1581A>G (p.Arg527=)
c.276+16455T>C (n.276+16455T>C)
c.*220+6089A>G (n.*220+6089A>G)
c.705A>G (p.Arg235=)
c.732A>G (p.Arg244=)
c.1587A>G (p.Arg529=)
c.1401A>G (p.Arg467=)
c.1320A>G (p.Arg440=)
c.1026A>G (p.Arg342=)
c.1407A>G (p.Arg469=)
2g.48688135T>GCA346745461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1662A>C (p.Arg554=)
c.952A>C (p.Lys318Gln)
c.3441+16455T>G (n.3441+16455T>G)
c.*406A>C (n.*406A>C)
c.1581A>C (p.Arg527=)
c.276+16455T>G (n.276+16455T>G)
c.*220+6089A>C (n.*220+6089A>C)
c.705A>C (p.Arg235=)
c.732A>C (p.Arg244=)
c.1587A>C (p.Arg529=)
c.1401A>C (p.Arg467=)
c.1320A>C (p.Arg440=)
c.1026A>C (p.Arg342=)
c.1407A>C (p.Arg469=)
2g.48688135_48688139delCA2749836834GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658_1662del (p.Val553GlufsTer9)
c.948_952del (p.Ser317ThrfsTer4)
c.3441+16455_3441+16459del (n.3441+16455_3441+16459del)
c.*402_*406del (n.*402_*406del)
c.1577_1581del (p.Val526GlufsTer9)
c.276+16455_276+16459del (n.276+16455_276+16459del)
c.*220+6085_*220+6089del (n.*220+6085_*220+6089del)
c.701_705del (p.Val234GlufsTer9)
c.728_732del (p.Val243GlufsTer9)
c.1583_1587del (p.Val528GlufsTer9)
c.1397_1401del (p.Val466GlufsTer9)
c.1316_1320del (p.Val439GlufsTer9)
c.1022_1026del (p.Val341GlufsTer9)
c.1403_1407del (p.Val468GlufsTer9)
2g.48688136C>ACA346745463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G>T (p.Arg554Leu)
c.951G>T (p.Ser317=)
c.3441+16456C>A (n.3441+16456C>A)
c.*405G>T (n.*405G>T)
c.1580G>T (p.Arg527Leu)
c.276+16456C>A (n.276+16456C>A)
c.*220+6088G>T (n.*220+6088G>T)
c.704G>T (p.Arg235Leu)
c.731G>T (p.Arg244Leu)
c.1586G>T (p.Arg529Leu)
c.1400G>T (p.Arg467Leu)
c.1319G>T (p.Arg440Leu)
c.1025G>T (p.Arg342Leu)
c.1406G>T (p.Arg469Leu)
2g.48688136C=CA1248601003GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G= (p.Arg554=)
c.951G= (p.Ser317=)
c.3441+16456C= (n.3441+16456C=)
c.*405G= (n.*405G=)
c.1580G= (p.Arg527=)
c.276+16456C= (n.276+16456C=)
c.*220+6088G= (n.*220+6088G=)
c.704G= (p.Arg235=)
c.731G= (p.Arg244=)
c.1586G= (p.Arg529=)
c.1400G= (p.Arg467=)
c.1319G= (p.Arg440=)
c.1025G= (p.Arg342=)
c.1406G= (p.Arg469=)
2g.48688136C>GCA346745464GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G>C (p.Arg554Pro)
c.951G>C (p.Ser317=)
c.3441+16456C>G (n.3441+16456C>G)
c.*405G>C (n.*405G>C)
c.1580G>C (p.Arg527Pro)
c.276+16456C>G (n.276+16456C>G)
c.*220+6088G>C (n.*220+6088G>C)
c.704G>C (p.Arg235Pro)
c.731G>C (p.Arg244Pro)
c.1586G>C (p.Arg529Pro)
c.1400G>C (p.Arg467Pro)
c.1319G>C (p.Arg440Pro)
c.1025G>C (p.Arg342Pro)
c.1406G>C (p.Arg469Pro)
2g.48688136C>TCA1653005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1661G>A (p.Arg554Gln)
c.951G>A (p.Ser317=)
c.3441+16456C>T (n.3441+16456C>T)
c.*405G>A (n.*405G>A)
c.1580G>A (p.Arg527Gln)
c.276+16456C>T (n.276+16456C>T)
c.*220+6088G>A (n.*220+6088G>A)
c.704G>A (p.Arg235Gln)
c.731G>A (p.Arg244Gln)
c.1586G>A (p.Arg529Gln)
c.1400G>A (p.Arg467Gln)
c.1319G>A (p.Arg440Gln)
c.1025G>A (p.Arg342Gln)
c.1406G>A (p.Arg469Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688137G>ACA123921GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C>T (p.Arg554Ter)
c.950C>T (p.Ser317Leu)
c.3441+16457G>A (n.3441+16457G>A)
c.*404C>T (n.*404C>T)
c.1579C>T (p.Arg527Ter)
c.276+16457G>A (n.276+16457G>A)
c.*220+6087C>T (n.*220+6087C>T)
c.703C>T (p.Arg235Ter)
c.730C>T (p.Arg244Ter)
c.1585C>T (p.Arg529Ter)
c.1399C>T (p.Arg467Ter)
c.1318C>T (p.Arg440Ter)
c.1024C>T (p.Arg342Ter)
c.1405C>T (p.Arg469Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688137G>CCA346745471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C>G (p.Arg554Gly)
c.950C>G (p.Ser317Trp)
c.3441+16457G>C (n.3441+16457G>C)
c.*404C>G (n.*404C>G)
c.1579C>G (p.Arg527Gly)
c.276+16457G>C (n.276+16457G>C)
c.*220+6087C>G (n.*220+6087C>G)
c.703C>G (p.Arg235Gly)
c.730C>G (p.Arg244Gly)
c.1585C>G (p.Arg529Gly)
c.1399C>G (p.Arg467Gly)
c.1318C>G (p.Arg440Gly)
c.1024C>G (p.Arg342Gly)
c.1405C>G (p.Arg469Gly)
 gnomAD v4
2g.48688137G=CA1248601004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C= (p.Arg554=)
c.950C= (p.Ser317=)
c.3441+16457G= (n.3441+16457G=)
c.*404C= (n.*404C=)
c.1579C= (p.Arg527=)
c.276+16457G= (n.276+16457G=)
c.*220+6087C= (n.*220+6087C=)
c.703C= (p.Arg235=)
c.730C= (p.Arg244=)
c.1585C= (p.Arg529=)
c.1399C= (p.Arg467=)
c.1318C= (p.Arg440=)
c.1024C= (p.Arg342=)
c.1405C= (p.Arg469=)
2g.48688137G>TCA346745467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1660C>A (p.Arg554=)
c.950C>A (p.Ser317Ter)
c.3441+16457G>T (n.3441+16457G>T)
c.*404C>A (n.*404C>A)
c.1579C>A (p.Arg527=)
c.276+16457G>T (n.276+16457G>T)
c.*220+6087C>A (n.*220+6087C>A)
c.703C>A (p.Arg235=)
c.730C>A (p.Arg244=)
c.1585C>A (p.Arg529=)
c.1399C>A (p.Arg467=)
c.1318C>A (p.Arg440=)
c.1024C>A (p.Arg342=)
c.1405C>A (p.Arg469=)
2g.48688138A=CA1248601005GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T= (p.Val553=)
c.949T= (p.Ser317=)
c.3441+16458A= (n.3441+16458A=)
c.*403T= (n.*403T=)
c.1578T= (p.Val526=)
c.276+16458A= (n.276+16458A=)
c.*220+6086T= (n.*220+6086T=)
c.702T= (p.Val234=)
c.729T= (p.Val243=)
c.1584T= (p.Val528=)
c.1398T= (p.Val466=)
c.1317T= (p.Val439=)
c.1023T= (p.Val341=)
c.1404T= (p.Val468=)
2g.48688138A>CCA346745474GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T>G (p.Val553=)
c.949T>G (p.Ser317Ala)
c.3441+16458A>C (n.3441+16458A>C)
c.*403T>G (n.*403T>G)
c.1578T>G (p.Val526=)
c.276+16458A>C (n.276+16458A>C)
c.*220+6086T>G (n.*220+6086T>G)
c.702T>G (p.Val234=)
c.729T>G (p.Val243=)
c.1584T>G (p.Val528=)
c.1398T>G (p.Val466=)
c.1317T>G (p.Val439=)
c.1023T>G (p.Val341=)
c.1404T>G (p.Val468=)
2g.48688138A>GCA346745479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T>C (p.Val553=)
c.949T>C (p.Ser317Pro)
c.3441+16458A>G (n.3441+16458A>G)
c.*403T>C (n.*403T>C)
c.1578T>C (p.Val526=)
c.276+16458A>G (n.276+16458A>G)
c.*220+6086T>C (n.*220+6086T>C)
c.702T>C (p.Val234=)
c.729T>C (p.Val243=)
c.1584T>C (p.Val528=)
c.1398T>C (p.Val466=)
c.1317T>C (p.Val439=)
c.1023T>C (p.Val341=)
c.1404T>C (p.Val468=)
2g.48688138A>TCA346745481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1659T>A (p.Val553=)
c.949T>A (p.Ser317Thr)
c.3441+16458A>T (n.3441+16458A>T)
c.*403T>A (n.*403T>A)
c.1578T>A (p.Val526=)
c.276+16458A>T (n.276+16458A>T)
c.*220+6086T>A (n.*220+6086T>A)
c.702T>A (p.Val234=)
c.729T>A (p.Val243=)
c.1584T>A (p.Val528=)
c.1398T>A (p.Val466=)
c.1317T>A (p.Val439=)
c.1023T>A (p.Val341=)
c.1404T>A (p.Val468=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688139A>CCA346745484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658T>G (p.Val553Gly)
c.948T>G (p.Leu316=)
c.3441+16459A>C (n.3441+16459A>C)
c.*402T>G (n.*402T>G)
c.1577T>G (p.Val526Gly)
c.276+16459A>C (n.276+16459A>C)
c.*220+6085T>G (n.*220+6085T>G)
c.701T>G (p.Val234Gly)
c.728T>G (p.Val243Gly)
c.1583T>G (p.Val528Gly)
c.1397T>G (p.Val466Gly)
c.1316T>G (p.Val439Gly)
c.1022T>G (p.Val341Gly)
c.1403T>G (p.Val468Gly)
2g.48688139A>GCA346745489GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658T>C (p.Val553Ala)
c.948T>C (p.Leu316=)
c.3441+16459A>G (n.3441+16459A>G)
c.*402T>C (n.*402T>C)
c.1577T>C (p.Val526Ala)
c.276+16459A>G (n.276+16459A>G)
c.*220+6085T>C (n.*220+6085T>C)
c.701T>C (p.Val234Ala)
c.728T>C (p.Val243Ala)
c.1583T>C (p.Val528Ala)
c.1397T>C (p.Val466Ala)
c.1316T>C (p.Val439Ala)
c.1022T>C (p.Val341Ala)
c.1403T>C (p.Val468Ala)
 COSMIC
2g.48688139A>TCA346745493GTF2A1L,LHCGR,STON1-GTF2A1Lc.1658T>A (p.Val553Asp)
c.948T>A (p.Leu316=)
c.3441+16459A>T (n.3441+16459A>T)
c.*402T>A (n.*402T>A)
c.1577T>A (p.Val526Asp)
c.276+16459A>T (n.276+16459A>T)
c.*220+6085T>A (n.*220+6085T>A)
c.701T>A (p.Val234Asp)
c.728T>A (p.Val243Asp)
c.1583T>A (p.Val528Asp)
c.1397T>A (p.Val466Asp)
c.1316T>A (p.Val439Asp)
c.1022T>A (p.Val341Asp)
c.1403T>A (p.Val468Asp)
2g.48688140C>ACA346745494GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G>T (p.Val553Phe)
c.948-1G>T (n.948-1G>T)
c.3441+16460C>A (n.3441+16460C>A)
c.*401G>T (n.*401G>T)
c.1576G>T (p.Val526Phe)
c.276+16460C>A (n.276+16460C>A)
c.*220+6084G>T (n.*220+6084G>T)
c.700G>T (p.Val234Phe)
c.727G>T (p.Val243Phe)
c.1582G>T (p.Val528Phe)
c.1396G>T (p.Val466Phe)
c.1315G>T (p.Val439Phe)
c.1021G>T (p.Val341Phe)
c.1402G>T (p.Val468Phe)
2g.48688140C=CA1248601006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G= (p.Val553=)
c.948-1G= (n.948-1G=)
c.3441+16460C= (n.3441+16460C=)
c.*401G= (n.*401G=)
c.1576G= (p.Val526=)
c.276+16460C= (n.276+16460C=)
c.*220+6084G= (n.*220+6084G=)
c.700G= (p.Val234=)
c.727G= (p.Val243=)
c.1582G= (p.Val528=)
c.1396G= (p.Val466=)
c.1315G= (p.Val439=)
c.1021G= (p.Val341=)
c.1402G= (p.Val468=)
2g.48688140C>GCA346745495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G>C (p.Val553Leu)
c.948-1G>C (n.948-1G>C)
c.3441+16460C>G (n.3441+16460C>G)
c.*401G>C (n.*401G>C)
c.1576G>C (p.Val526Leu)
c.276+16460C>G (n.276+16460C>G)
c.*220+6084G>C (n.*220+6084G>C)
c.700G>C (p.Val234Leu)
c.727G>C (p.Val243Leu)
c.1582G>C (p.Val528Leu)
c.1396G>C (p.Val466Leu)
c.1315G>C (p.Val439Leu)
c.1021G>C (p.Val341Leu)
c.1402G>C (p.Val468Leu)
 dbSNP gnomAD v4
2g.48688140C>TCA346745496GTF2A1L,LHCGR,STON1-GTF2A1Lc.1657G>A (p.Val553Ile)
c.948-1G>A (n.948-1G>A)
c.3441+16460C>T (n.3441+16460C>T)
c.*401G>A (n.*401G>A)
c.1576G>A (p.Val526Ile)
c.276+16460C>T (n.276+16460C>T)
c.*220+6084G>A (n.*220+6084G>A)
c.700G>A (p.Val234Ile)
c.727G>A (p.Val243Ile)
c.1582G>A (p.Val528Ile)
c.1396G>A (p.Val466Ile)
c.1315G>A (p.Val439Ile)
c.1021G>A (p.Val341Ile)
c.1402G>A (p.Val468Ile)
2g.48688140_48688141delinsCTCA1248601007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656_1657delinsAG (p.Ala552=)
c.948-2_948-1delinsAG (n.948-2_948-1delinsAG)
c.3441+16460_3441+16461delinsCT (n.3441+16460_3441+16461delinsCT)
c.*400_*401delinsAG (n.*400_*401delinsAG)
c.1575_1576delinsAG (p.Ala525=)
c.276+16460_276+16461delinsCT (n.276+16460_276+16461delinsCT)
c.*220+6083_*220+6084delinsAG (n.*220+6083_*220+6084delinsAG)
c.699_700delinsAG (p.Ala233=)
c.726_727delinsAG (p.Ala242=)
c.1581_1582delinsAG (p.Ala527=)
c.1395_1396delinsAG (p.Ala465=)
c.1314_1315delinsAG (p.Ala438=)
c.1020_1021delinsAG (p.Ala340=)
c.1401_1402delinsAG (p.Ala467=)
2g.48688141delCA1653006GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656del (p.Val553PhefsTer6)
c.948-2del (n.948-2del)
c.3441+16461del (n.3441+16461del)
c.*400del (n.*400del)
c.1575del (p.Val526PhefsTer6)
c.276+16461del (n.276+16461del)
c.*220+6083del (n.*220+6083del)
c.699del (p.Val234PhefsTer6)
c.726del (p.Val243PhefsTer6)
c.1581del (p.Val528PhefsTer6)
c.1395del (p.Val466PhefsTer6)
c.1314del (p.Val439PhefsTer6)
c.1020del (p.Val341PhefsTer6)
c.1401del (p.Val468PhefsTer6)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688141T>ACA346745497GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A>T (p.Ala552=)
c.948-2A>T (n.948-2A>T)
c.3441+16461T>A (n.3441+16461T>A)
c.*400A>T (n.*400A>T)
c.1575A>T (p.Ala525=)
c.276+16461T>A (n.276+16461T>A)
c.*220+6083A>T (n.*220+6083A>T)
c.699A>T (p.Ala233=)
c.726A>T (p.Ala242=)
c.1581A>T (p.Ala527=)
c.1395A>T (p.Ala465=)
c.1314A>T (p.Ala438=)
c.1020A>T (p.Ala340=)
c.1401A>T (p.Ala467=)
 dbSNP
2g.48688141T>CCA346745500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A>G (p.Ala552=)
c.948-2A>G (n.948-2A>G)
c.3441+16461T>C (n.3441+16461T>C)
c.*400A>G (n.*400A>G)
c.1575A>G (p.Ala525=)
c.276+16461T>C (n.276+16461T>C)
c.*220+6083A>G (n.*220+6083A>G)
c.699A>G (p.Ala233=)
c.726A>G (p.Ala242=)
c.1581A>G (p.Ala527=)
c.1395A>G (p.Ala465=)
c.1314A>G (p.Ala438=)
c.1020A>G (p.Ala340=)
c.1401A>G (p.Ala467=)
2g.48688141T>GCA346745502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A>C (p.Ala552=)
c.948-2A>C (n.948-2A>C)
c.3441+16461T>G (n.3441+16461T>G)
c.*400A>C (n.*400A>C)
c.1575A>C (p.Ala525=)
c.276+16461T>G (n.276+16461T>G)
c.*220+6083A>C (n.*220+6083A>C)
c.699A>C (p.Ala233=)
c.726A>C (p.Ala242=)
c.1581A>C (p.Ala527=)
c.1395A>C (p.Ala465=)
c.1314A>C (p.Ala438=)
c.1020A>C (p.Ala340=)
c.1401A>C (p.Ala467=)
 dbSNP gnomAD v4
2g.48688141T=CA1248601008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1656A= (p.Ala552=)
c.948-2A= (n.948-2A=)
c.3441+16461T= (n.3441+16461T=)
c.*400A= (n.*400A=)
c.1575A= (p.Ala525=)
c.276+16461T= (n.276+16461T=)
c.*220+6083A= (n.*220+6083A=)
c.699A= (p.Ala233=)
c.726A= (p.Ala242=)
c.1581A= (p.Ala527=)
c.1395A= (p.Ala465=)
c.1314A= (p.Ala438=)
c.1020A= (p.Ala340=)
c.1401A= (p.Ala467=)
2g.48688142G>ACA346745507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C>T (p.Ala552Val)
c.948-3C>T (n.948-3C>T)
c.3441+16462G>A (n.3441+16462G>A)
c.*399C>T (n.*399C>T)
c.1574C>T (p.Ala525Val)
c.276+16462G>A (n.276+16462G>A)
c.*220+6082C>T (n.*220+6082C>T)
c.698C>T (p.Ala233Val)
c.725C>T (p.Ala242Val)
c.1580C>T (p.Ala527Val)
c.1394C>T (p.Ala465Val)
c.1313C>T (p.Ala438Val)
c.1019C>T (p.Ala340Val)
c.1400C>T (p.Ala467Val)
 dbSNP gnomAD v3 gnomAD v4
2g.48688142G>CCA346745504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C>G (p.Ala552Gly)
c.948-3C>G (n.948-3C>G)
c.3441+16462G>C (n.3441+16462G>C)
c.*399C>G (n.*399C>G)
c.1574C>G (p.Ala525Gly)
c.276+16462G>C (n.276+16462G>C)
c.*220+6082C>G (n.*220+6082C>G)
c.698C>G (p.Ala233Gly)
c.725C>G (p.Ala242Gly)
c.1580C>G (p.Ala527Gly)
c.1394C>G (p.Ala465Gly)
c.1313C>G (p.Ala438Gly)
c.1019C>G (p.Ala340Gly)
c.1400C>G (p.Ala467Gly)
2g.48688142G=CA1248601009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C= (p.Ala552=)
c.948-3C= (n.948-3C=)
c.3441+16462G= (n.3441+16462G=)
c.*399C= (n.*399C=)
c.1574C= (p.Ala525=)
c.276+16462G= (n.276+16462G=)
c.*220+6082C= (n.*220+6082C=)
c.698C= (p.Ala233=)
c.725C= (p.Ala242=)
c.1580C= (p.Ala527=)
c.1394C= (p.Ala465=)
c.1313C= (p.Ala438=)
c.1019C= (p.Ala340=)
c.1400C= (p.Ala467=)
2g.48688142G>TCA346745503GTF2A1L,LHCGR,STON1-GTF2A1Lc.1655C>A (p.Ala552Glu)
c.948-3C>A (n.948-3C>A)
c.3441+16462G>T (n.3441+16462G>T)
c.*399C>A (n.*399C>A)
c.1574C>A (p.Ala525Glu)
c.276+16462G>T (n.276+16462G>T)
c.*220+6082C>A (n.*220+6082C>A)
c.698C>A (p.Ala233Glu)
c.725C>A (p.Ala242Glu)
c.1580C>A (p.Ala527Glu)
c.1394C>A (p.Ala465Glu)
c.1313C>A (p.Ala438Glu)
c.1019C>A (p.Ala340Glu)
c.1400C>A (p.Ala467Glu)
2g.48688143C>ACA346745510GTF2A1L,LHCGR,STON1-GTF2A1Lc.1654G>T (p.Ala552Ser)
c.948-4G>T (n.948-4G>T)
c.3441+16463C>A (n.3441+16463C>A)
c.*398G>T (n.*398G>T)
c.1573G>T (p.Ala525Ser)
c.276+16463C>A (n.276+16463C>A)
c.*220+6081G>T (n.*220+6081G>T)
c.697G>T (p.Ala233Ser)
c.724G>T (p.Ala242Ser)
c.1579G>T (p.Ala527Ser)
c.1393G>T (p.Ala465Ser)
c.1312G>T (p.Ala438Ser)
c.1018G>T (p.Ala340Ser)
c.1399G>T (p.Ala467Ser)
2g.48688143C>GCA346745514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1654G>C (p.Ala552Pro)
c.948-4G>C (n.948-4G>C)
c.3441+16463C>G (n.3441+16463C>G)
c.*398G>C (n.*398G>C)
c.1573G>C (p.Ala525Pro)
c.276+16463C>G (n.276+16463C>G)
c.*220+6081G>C (n.*220+6081G>C)
c.697G>C (p.Ala233Pro)
c.724G>C (p.Ala242Pro)
c.1579G>C (p.Ala527Pro)
c.1393G>C (p.Ala465Pro)
c.1312G>C (p.Ala438Pro)
c.1018G>C (p.Ala340Pro)
c.1399G>C (p.Ala467Pro)
2g.48688143C>TCA346745518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1654G>A (p.Ala552Thr)
c.948-4G>A (n.948-4G>A)
c.3441+16463C>T (n.3441+16463C>T)
c.*398G>A (n.*398G>A)
c.1573G>A (p.Ala525Thr)
c.276+16463C>T (n.276+16463C>T)
c.*220+6081G>A (n.*220+6081G>A)
c.697G>A (p.Ala233Thr)
c.724G>A (p.Ala242Thr)
c.1579G>A (p.Ala527Thr)
c.1393G>A (p.Ala465Thr)
c.1312G>A (p.Ala438Thr)
c.1018G>A (p.Ala340Thr)
c.1399G>A (p.Ala467Thr)
 gnomAD v4
2g.48688144A=CA1248601010GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T= (p.Phe551=)
c.948-5T= (n.948-5T=)
c.3441+16464A= (n.3441+16464A=)
c.*397T= (n.*397T=)
c.1572T= (p.Phe524=)
c.276+16464A= (n.276+16464A=)
c.*220+6080T= (n.*220+6080T=)
c.696T= (p.Phe232=)
c.723T= (p.Phe241=)
c.1578T= (p.Phe526=)
c.1392T= (p.Phe464=)
c.1311T= (p.Phe437=)
c.1017T= (p.Phe339=)
c.1398T= (p.Phe466=)
2g.48688144A>CCA346745521GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T>G (p.Phe551Leu)
c.948-5T>G (n.948-5T>G)
c.3441+16464A>C (n.3441+16464A>C)
c.*397T>G (n.*397T>G)
c.1572T>G (p.Phe524Leu)
c.276+16464A>C (n.276+16464A>C)
c.*220+6080T>G (n.*220+6080T>G)
c.696T>G (p.Phe232Leu)
c.723T>G (p.Phe241Leu)
c.1578T>G (p.Phe526Leu)
c.1392T>G (p.Phe464Leu)
c.1311T>G (p.Phe437Leu)
c.1017T>G (p.Phe339Leu)
c.1398T>G (p.Phe466Leu)
 dbSNP
2g.48688144A>GCA426125149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T>C (p.Phe551=)
c.948-5T>C (n.948-5T>C)
c.3441+16464A>G (n.3441+16464A>G)
c.*397T>C (n.*397T>C)
c.1572T>C (p.Phe524=)
c.276+16464A>G (n.276+16464A>G)
c.*220+6080T>C (n.*220+6080T>C)
c.696T>C (p.Phe232=)
c.723T>C (p.Phe241=)
c.1578T>C (p.Phe526=)
c.1392T>C (p.Phe464=)
c.1311T>C (p.Phe437=)
c.1017T>C (p.Phe339=)
c.1398T>C (p.Phe466=)
2g.48688144A>TCA346745522GTF2A1L,LHCGR,STON1-GTF2A1Lc.1653T>A (p.Phe551Leu)
c.948-5T>A (n.948-5T>A)
c.3441+16464A>T (n.3441+16464A>T)
c.*397T>A (n.*397T>A)
c.1572T>A (p.Phe524Leu)
c.276+16464A>T (n.276+16464A>T)
c.*220+6080T>A (n.*220+6080T>A)
c.696T>A (p.Phe232Leu)
c.723T>A (p.Phe241Leu)
c.1578T>A (p.Phe526Leu)
c.1392T>A (p.Phe464Leu)
c.1311T>A (p.Phe437Leu)
c.1017T>A (p.Phe339Leu)
c.1398T>A (p.Phe466Leu)
2g.48688145A>CCA346745527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1652T>G (p.Phe551Cys)
c.948-6T>G (n.948-6T>G)
c.3441+16465A>C (n.3441+16465A>C)
c.*396T>G (n.*396T>G)
c.1571T>G (p.Phe524Cys)
c.276+16465A>C (n.276+16465A>C)
c.*220+6079T>G (n.*220+6079T>G)
c.695T>G (p.Phe232Cys)
c.722T>G (p.Phe241Cys)
c.1577T>G (p.Phe526Cys)
c.1391T>G (p.Phe464Cys)
c.1310T>G (p.Phe437Cys)
c.1016T>G (p.Phe339Cys)
c.1397T>G (p.Phe466Cys)
2g.48688145A>GCA346745537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1652T>C (p.Phe551Ser)
c.948-6T>C (n.948-6T>C)
c.3441+16465A>G (n.3441+16465A>G)
c.*396T>C (n.*396T>C)
c.1571T>C (p.Phe524Ser)
c.276+16465A>G (n.276+16465A>G)
c.*220+6079T>C (n.*220+6079T>C)
c.695T>C (p.Phe232Ser)
c.722T>C (p.Phe241Ser)
c.1577T>C (p.Phe526Ser)
c.1391T>C (p.Phe464Ser)
c.1310T>C (p.Phe437Ser)
c.1016T>C (p.Phe339Ser)
c.1397T>C (p.Phe466Ser)
 gnomAD v4
2g.48688145A>TCA346745541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1652T>A (p.Phe551Tyr)
c.948-6T>A (n.948-6T>A)
c.3441+16465A>T (n.3441+16465A>T)
c.*396T>A (n.*396T>A)
c.1571T>A (p.Phe524Tyr)
c.276+16465A>T (n.276+16465A>T)
c.*220+6079T>A (n.*220+6079T>A)
c.695T>A (p.Phe232Tyr)
c.722T>A (p.Phe241Tyr)
c.1577T>A (p.Phe526Tyr)
c.1391T>A (p.Phe464Tyr)
c.1310T>A (p.Phe437Tyr)
c.1016T>A (p.Phe339Tyr)
c.1397T>A (p.Phe466Tyr)
2g.48688146A>CCA346745544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1651T>G (p.Phe551Val)
c.948-7T>G (n.948-7T>G)
c.3441+16466A>C (n.3441+16466A>C)
c.*395T>G (n.*395T>G)
c.1570T>G (p.Phe524Val)
c.276+16466A>C (n.276+16466A>C)
c.*220+6078T>G (n.*220+6078T>G)
c.694T>G (p.Phe232Val)
c.721T>G (p.Phe241Val)
c.1576T>G (p.Phe526Val)
c.1390T>G (p.Phe464Val)
c.1309T>G (p.Phe437Val)
c.1015T>G (p.Phe339Val)
c.1396T>G (p.Phe466Val)
2g.48688146A>GCA346745547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1651T>C (p.Phe551Leu)
c.948-7T>C (n.948-7T>C)
c.3441+16466A>G (n.3441+16466A>G)
c.*395T>C (n.*395T>C)
c.1570T>C (p.Phe524Leu)
c.276+16466A>G (n.276+16466A>G)
c.*220+6078T>C (n.*220+6078T>C)
c.694T>C (p.Phe232Leu)
c.721T>C (p.Phe241Leu)
c.1576T>C (p.Phe526Leu)
c.1390T>C (p.Phe464Leu)
c.1309T>C (p.Phe437Leu)
c.1015T>C (p.Phe339Leu)
c.1396T>C (p.Phe466Leu)
2g.48688146A>TCA346745548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1651T>A (p.Phe551Ile)
c.948-7T>A (n.948-7T>A)
c.3441+16466A>T (n.3441+16466A>T)
c.*395T>A (n.*395T>A)
c.1570T>A (p.Phe524Ile)
c.276+16466A>T (n.276+16466A>T)
c.*220+6078T>A (n.*220+6078T>A)
c.694T>A (p.Phe232Ile)
c.721T>A (p.Phe241Ile)
c.1576T>A (p.Phe526Ile)
c.1390T>A (p.Phe464Ile)
c.1309T>A (p.Phe437Ile)
c.1015T>A (p.Phe339Ile)
c.1396T>A (p.Phe466Ile)
2g.48688147A>CCA346745549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1650T>G (p.Tyr550Ter)
c.948-8T>G (n.948-8T>G)
c.3441+16467A>C (n.3441+16467A>C)
c.*394T>G (n.*394T>G)
c.1569T>G (p.Tyr523Ter)
c.276+16467A>C (n.276+16467A>C)
c.*220+6077T>G (n.*220+6077T>G)
c.693T>G (p.Tyr231Ter)
c.720T>G (p.Tyr240Ter)
c.1575T>G (p.Tyr525Ter)
c.1389T>G (p.Tyr463Ter)
c.1308T>G (p.Tyr436Ter)
c.1014T>G (p.Tyr338Ter)
c.1395T>G (p.Tyr465Ter)
2g.48688147A>GCA426125153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1650T>C (p.Tyr550=)
c.948-8T>C (n.948-8T>C)
c.3441+16467A>G (n.3441+16467A>G)
c.*394T>C (n.*394T>C)
c.1569T>C (p.Tyr523=)
c.276+16467A>G (n.276+16467A>G)
c.*220+6077T>C (n.*220+6077T>C)
c.693T>C (p.Tyr231=)
c.720T>C (p.Tyr240=)
c.1575T>C (p.Tyr525=)
c.1389T>C (p.Tyr463=)
c.1308T>C (p.Tyr436=)
c.1014T>C (p.Tyr338=)
c.1395T>C (p.Tyr465=)
2g.48688147A>TCA346745550GTF2A1L,LHCGR,STON1-GTF2A1Lc.1650T>A (p.Tyr550Ter)
c.948-8T>A (n.948-8T>A)
c.3441+16467A>T (n.3441+16467A>T)
c.*394T>A (n.*394T>A)
c.1569T>A (p.Tyr523Ter)
c.276+16467A>T (n.276+16467A>T)
c.*220+6077T>A (n.*220+6077T>A)
c.693T>A (p.Tyr231Ter)
c.720T>A (p.Tyr240Ter)
c.1575T>A (p.Tyr525Ter)
c.1389T>A (p.Tyr463Ter)
c.1308T>A (p.Tyr436Ter)
c.1014T>A (p.Tyr338Ter)
c.1395T>A (p.Tyr465Ter)
2g.48688148T>ACA346745563GTF2A1L,LHCGR,STON1-GTF2A1Lc.1649A>T (p.Tyr550Phe)
c.948-9A>T (n.948-9A>T)
c.3441+16468T>A (n.3441+16468T>A)
c.*393A>T (n.*393A>T)
c.1568A>T (p.Tyr523Phe)
c.276+16468T>A (n.276+16468T>A)
c.*220+6076A>T (n.*220+6076A>T)
c.692A>T (p.Tyr231Phe)
c.719A>T (p.Tyr240Phe)
c.1574A>T (p.Tyr525Phe)
c.1388A>T (p.Tyr463Phe)
c.1307A>T (p.Tyr436Phe)
c.1013A>T (p.Tyr338Phe)
c.1394A>T (p.Tyr465Phe)
2g.48688148T>CCA346745561GTF2A1L,LHCGR,STON1-GTF2A1Lc.1649A>G (p.Tyr550Cys)
c.948-9A>G (n.948-9A>G)
c.3441+16468T>C (n.3441+16468T>C)
c.*393A>G (n.*393A>G)
c.1568A>G (p.Tyr523Cys)
c.276+16468T>C (n.276+16468T>C)
c.*220+6076A>G (n.*220+6076A>G)
c.692A>G (p.Tyr231Cys)
c.719A>G (p.Tyr240Cys)
c.1574A>G (p.Tyr525Cys)
c.1388A>G (p.Tyr463Cys)
c.1307A>G (p.Tyr436Cys)
c.1013A>G (p.Tyr338Cys)
c.1394A>G (p.Tyr465Cys)
2g.48688148T>GCA346745553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1649A>C (p.Tyr550Ser)
c.948-9A>C (n.948-9A>C)
c.3441+16468T>G (n.3441+16468T>G)
c.*393A>C (n.*393A>C)
c.1568A>C (p.Tyr523Ser)
c.276+16468T>G (n.276+16468T>G)
c.*220+6076A>C (n.*220+6076A>C)
c.692A>C (p.Tyr231Ser)
c.719A>C (p.Tyr240Ser)
c.1574A>C (p.Tyr525Ser)
c.1388A>C (p.Tyr463Ser)
c.1307A>C (p.Tyr436Ser)
c.1013A>C (p.Tyr338Ser)
c.1394A>C (p.Tyr465Ser)
2g.48688149A>CCA346745567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1648T>G (p.Tyr550Asp)
c.948-10T>G (n.948-10T>G)
c.3441+16469A>C (n.3441+16469A>C)
c.*392T>G (n.*392T>G)
c.1567T>G (p.Tyr523Asp)
c.276+16469A>C (n.276+16469A>C)
c.*220+6075T>G (n.*220+6075T>G)
c.691T>G (p.Tyr231Asp)
c.718T>G (p.Tyr240Asp)
c.1573T>G (p.Tyr525Asp)
c.1387T>G (p.Tyr463Asp)
c.1306T>G (p.Tyr436Asp)
c.1012T>G (p.Tyr338Asp)
c.1393T>G (p.Tyr465Asp)
 gnomAD v4
2g.48688149A>GCA346745570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1648T>C (p.Tyr550His)
c.948-10T>C (n.948-10T>C)
c.3441+16469A>G (n.3441+16469A>G)
c.*392T>C (n.*392T>C)
c.1567T>C (p.Tyr523His)
c.276+16469A>G (n.276+16469A>G)
c.*220+6075T>C (n.*220+6075T>C)
c.691T>C (p.Tyr231His)
c.718T>C (p.Tyr240His)
c.1573T>C (p.Tyr525His)
c.1387T>C (p.Tyr463His)
c.1306T>C (p.Tyr436His)
c.1012T>C (p.Tyr338His)
c.1393T>C (p.Tyr465His)
2g.48688149A>TCA346745569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1648T>A (p.Tyr550Asn)
c.948-10T>A (n.948-10T>A)
c.3441+16469A>T (n.3441+16469A>T)
c.*392T>A (n.*392T>A)
c.1567T>A (p.Tyr523Asn)
c.276+16469A>T (n.276+16469A>T)
c.*220+6075T>A (n.*220+6075T>A)
c.691T>A (p.Tyr231Asn)
c.718T>A (p.Tyr240Asn)
c.1573T>A (p.Tyr525Asn)
c.1387T>A (p.Tyr463Asn)
c.1306T>A (p.Tyr436Asn)
c.1012T>A (p.Tyr338Asn)
c.1393T>A (p.Tyr465Asn)
2g.48688150A>CCA346745574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1647T>G (p.Ile549Met)
c.948-11T>G (n.948-11T>G)
c.3441+16470A>C (n.3441+16470A>C)
c.*391T>G (n.*391T>G)
c.1566T>G (p.Ile522Met)
c.276+16470A>C (n.276+16470A>C)
c.*220+6074T>G (n.*220+6074T>G)
c.690T>G (p.Ile230Met)
c.717T>G (p.Ile239Met)
c.1572T>G (p.Ile524Met)
c.1386T>G (p.Ile462Met)
c.1305T>G (p.Ile435Met)
c.1011T>G (p.Ile337Met)
c.1392T>G (p.Ile464Met)
2g.48688150A>GCA426125164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1647T>C (p.Ile549=)
c.948-11T>C (n.948-11T>C)
c.3441+16470A>G (n.3441+16470A>G)
c.*391T>C (n.*391T>C)
c.1566T>C (p.Ile522=)
c.276+16470A>G (n.276+16470A>G)
c.*220+6074T>C (n.*220+6074T>C)
c.690T>C (p.Ile230=)
c.717T>C (p.Ile239=)
c.1572T>C (p.Ile524=)
c.1386T>C (p.Ile462=)
c.1305T>C (p.Ile435=)
c.1011T>C (p.Ile337=)
c.1392T>C (p.Ile464=)
 gnomAD v4
2g.48688150A>TCA426125165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1647T>A (p.Ile549=)
c.948-11T>A (n.948-11T>A)
c.3441+16470A>T (n.3441+16470A>T)
c.*391T>A (n.*391T>A)
c.1566T>A (p.Ile522=)
c.276+16470A>T (n.276+16470A>T)
c.*220+6074T>A (n.*220+6074T>A)
c.690T>A (p.Ile230=)
c.717T>A (p.Ile239=)
c.1572T>A (p.Ile524=)
c.1386T>A (p.Ile462=)
c.1305T>A (p.Ile435=)
c.1011T>A (p.Ile337=)
c.1392T>A (p.Ile464=)
2g.48688150_48688151insCCAAACACACCCAACACCA2749836835GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646_1647insGTGTTGGGTGTGTTTGG (p.Ile549MetfsTer16)
c.948-12_948-11insGTGTTGGGTGTGTTTGG (n.948-12_948-11insGTGTTGGGTGTGTTTGG)
c.3441+16470_3441+16471insCCAAACACACCCAACAC (n.3441+16470_3441+16471insCCAAACACACCCAACAC)
c.*390_*391insGTGTTGGGTGTGTTTGG (n.*390_*391insGTGTTGGGTGTGTTTGG)
c.1565_1566insGTGTTGGGTGTGTTTGG (p.Ile522MetfsTer16)
c.276+16470_276+16471insCCAAACACACCCAACAC (n.276+16470_276+16471insCCAAACACACCCAACAC)
c.*220+6073_*220+6074insGTGTTGGGTGTGTTTGG (n.*220+6073_*220+6074insGTGTTGGGTGTGTTTGG)
c.689_690insGTGTTGGGTGTGTTTGG (p.Ile230MetfsTer16)
c.716_717insGTGTTGGGTGTGTTTGG (p.Ile239MetfsTer16)
c.1571_1572insGTGTTGGGTGTGTTTGG (p.Ile524MetfsTer16)
c.1385_1386insGTGTTGGGTGTGTTTGG (p.Ile462MetfsTer16)
c.1304_1305insGTGTTGGGTGTGTTTGG (p.Ile435MetfsTer16)
c.1010_1011insGTGTTGGGTGTGTTTGG (p.Ile337MetfsTer16)
c.1391_1392insGTGTTGGGTGTGTTTGG (p.Ile464MetfsTer16)
2g.48688151A>CCA346745579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646T>G (p.Ile549Ser)
c.948-12T>G (n.948-12T>G)
c.3441+16471A>C (n.3441+16471A>C)
c.*390T>G (n.*390T>G)
c.1565T>G (p.Ile522Ser)
c.276+16471A>C (n.276+16471A>C)
c.*220+6073T>G (n.*220+6073T>G)
c.689T>G (p.Ile230Ser)
c.716T>G (p.Ile239Ser)
c.1571T>G (p.Ile524Ser)
c.1385T>G (p.Ile462Ser)
c.1304T>G (p.Ile435Ser)
c.1010T>G (p.Ile337Ser)
c.1391T>G (p.Ile464Ser)
 COSMIC
2g.48688151A>GCA346745581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646T>C (p.Ile549Thr)
c.948-12T>C (n.948-12T>C)
c.3441+16471A>G (n.3441+16471A>G)
c.*390T>C (n.*390T>C)
c.1565T>C (p.Ile522Thr)
c.276+16471A>G (n.276+16471A>G)
c.*220+6073T>C (n.*220+6073T>C)
c.689T>C (p.Ile230Thr)
c.716T>C (p.Ile239Thr)
c.1571T>C (p.Ile524Thr)
c.1385T>C (p.Ile462Thr)
c.1304T>C (p.Ile435Thr)
c.1010T>C (p.Ile337Thr)
c.1391T>C (p.Ile464Thr)
2g.48688151A>TCA346745584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1646T>A (p.Ile549Asn)
c.948-12T>A (n.948-12T>A)
c.3441+16471A>T (n.3441+16471A>T)
c.*390T>A (n.*390T>A)
c.1565T>A (p.Ile522Asn)
c.276+16471A>T (n.276+16471A>T)
c.*220+6073T>A (n.*220+6073T>A)
c.689T>A (p.Ile230Asn)
c.716T>A (p.Ile239Asn)
c.1571T>A (p.Ile524Asn)
c.1385T>A (p.Ile462Asn)
c.1304T>A (p.Ile435Asn)
c.1010T>A (p.Ile337Asn)
c.1391T>A (p.Ile464Asn)
2g.48688152T>ACA346745589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1645A>T (p.Ile549Phe)
c.948-13A>T (n.948-13A>T)
c.3441+16472T>A (n.3441+16472T>A)
c.*389A>T (n.*389A>T)
c.1564A>T (p.Ile522Phe)
c.276+16472T>A (n.276+16472T>A)
c.*220+6072A>T (n.*220+6072A>T)
c.688A>T (p.Ile230Phe)
c.715A>T (p.Ile239Phe)
c.1570A>T (p.Ile524Phe)
c.1384A>T (p.Ile462Phe)
c.1303A>T (p.Ile435Phe)
c.1009A>T (p.Ile337Phe)
c.1390A>T (p.Ile464Phe)
2g.48688152T>CCA346745591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1645A>G (p.Ile549Val)
c.948-13A>G (n.948-13A>G)
c.3441+16472T>C (n.3441+16472T>C)
c.*389A>G (n.*389A>G)
c.1564A>G (p.Ile522Val)
c.276+16472T>C (n.276+16472T>C)
c.*220+6072A>G (n.*220+6072A>G)
c.688A>G (p.Ile230Val)
c.715A>G (p.Ile239Val)
c.1570A>G (p.Ile524Val)
c.1384A>G (p.Ile462Val)
c.1303A>G (p.Ile435Val)
c.1009A>G (p.Ile337Val)
c.1390A>G (p.Ile464Val)
2g.48688152T>GCA346745594GTF2A1L,LHCGR,STON1-GTF2A1Lc.1645A>C (p.Ile549Leu)
c.948-13A>C (n.948-13A>C)
c.3441+16472T>G (n.3441+16472T>G)
c.*389A>C (n.*389A>C)
c.1564A>C (p.Ile522Leu)
c.276+16472T>G (n.276+16472T>G)
c.*220+6072A>C (n.*220+6072A>C)
c.688A>C (p.Ile230Leu)
c.715A>C (p.Ile239Leu)
c.1570A>C (p.Ile524Leu)
c.1384A>C (p.Ile462Leu)
c.1303A>C (p.Ile435Leu)
c.1009A>C (p.Ile337Leu)
c.1390A>C (p.Ile464Leu)
2g.48688153T>ACA346745597GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A>T (p.Lys548Asn)
c.948-14A>T (n.948-14A>T)
c.3441+16473T>A (n.3441+16473T>A)
c.*388A>T (n.*388A>T)
c.1563A>T (p.Lys521Asn)
c.276+16473T>A (n.276+16473T>A)
c.*220+6071A>T (n.*220+6071A>T)
c.687A>T (p.Lys229Asn)
c.714A>T (p.Lys238Asn)
c.1569A>T (p.Lys523Asn)
c.1383A>T (p.Lys461Asn)
c.1302A>T (p.Lys434Asn)
c.1008A>T (p.Lys336Asn)
c.1389A>T (p.Lys463Asn)
2g.48688153T>CCA1653007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A>G (p.Lys548=)
c.948-14A>G (n.948-14A>G)
c.3441+16473T>C (n.3441+16473T>C)
c.*388A>G (n.*388A>G)
c.1563A>G (p.Lys521=)
c.276+16473T>C (n.276+16473T>C)
c.*220+6071A>G (n.*220+6071A>G)
c.687A>G (p.Lys229=)
c.714A>G (p.Lys238=)
c.1569A>G (p.Lys523=)
c.1383A>G (p.Lys461=)
c.1302A>G (p.Lys434=)
c.1008A>G (p.Lys336=)
c.1389A>G (p.Lys463=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688153T>GCA346745601GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A>C (p.Lys548Asn)
c.948-14A>C (n.948-14A>C)
c.3441+16473T>G (n.3441+16473T>G)
c.*388A>C (n.*388A>C)
c.1563A>C (p.Lys521Asn)
c.276+16473T>G (n.276+16473T>G)
c.*220+6071A>C (n.*220+6071A>C)
c.687A>C (p.Lys229Asn)
c.714A>C (p.Lys238Asn)
c.1569A>C (p.Lys523Asn)
c.1383A>C (p.Lys461Asn)
c.1302A>C (p.Lys434Asn)
c.1008A>C (p.Lys336Asn)
c.1389A>C (p.Lys463Asn)
2g.48688153T=CA1248601011GTF2A1L,LHCGR,STON1-GTF2A1Lc.1644A= (p.Lys548=)
c.948-14A= (n.948-14A=)
c.3441+16473T= (n.3441+16473T=)
c.*388A= (n.*388A=)
c.1563A= (p.Lys521=)
c.276+16473T= (n.276+16473T=)
c.*220+6071A= (n.*220+6071A=)
c.687A= (p.Lys229=)
c.714A= (p.Lys238=)
c.1569A= (p.Lys523=)
c.1383A= (p.Lys461=)
c.1302A= (p.Lys434=)
c.1008A= (p.Lys336=)
c.1389A= (p.Lys463=)
2g.48688154T>ACA346745605GTF2A1L,LHCGR,STON1-GTF2A1Lc.1643A>T (p.Lys548Ile)
c.948-15A>T (n.948-15A>T)
c.3441+16474T>A (n.3441+16474T>A)
c.*387A>T (n.*387A>T)
c.1562A>T (p.Lys521Ile)
c.276+16474T>A (n.276+16474T>A)
c.*220+6070A>T (n.*220+6070A>T)
c.686A>T (p.Lys229Ile)
c.713A>T (p.Lys238Ile)
c.1568A>T (p.Lys523Ile)
c.1382A>T (p.Lys461Ile)
c.1301A>T (p.Lys434Ile)
c.1007A>T (p.Lys336Ile)
c.1388A>T (p.Lys463Ile)
2g.48688154T>CCA346745607GTF2A1L,LHCGR,STON1-GTF2A1Lc.1643A>G (p.Lys548Arg)
c.948-15A>G (n.948-15A>G)
c.3441+16474T>C (n.3441+16474T>C)
c.*387A>G (n.*387A>G)
c.1562A>G (p.Lys521Arg)
c.276+16474T>C (n.276+16474T>C)
c.*220+6070A>G (n.*220+6070A>G)
c.686A>G (p.Lys229Arg)
c.713A>G (p.Lys238Arg)
c.1568A>G (p.Lys523Arg)
c.1382A>G (p.Lys461Arg)
c.1301A>G (p.Lys434Arg)
c.1007A>G (p.Lys336Arg)
c.1388A>G (p.Lys463Arg)
2g.48688154T>GCA346745609GTF2A1L,LHCGR,STON1-GTF2A1Lc.1643A>C (p.Lys548Thr)
c.948-15A>C (n.948-15A>C)
c.3441+16474T>G (n.3441+16474T>G)
c.*387A>C (n.*387A>C)
c.1562A>C (p.Lys521Thr)
c.276+16474T>G (n.276+16474T>G)
c.*220+6070A>C (n.*220+6070A>C)
c.686A>C (p.Lys229Thr)
c.713A>C (p.Lys238Thr)
c.1568A>C (p.Lys523Thr)
c.1382A>C (p.Lys461Thr)
c.1301A>C (p.Lys434Thr)
c.1007A>C (p.Lys336Thr)
c.1388A>C (p.Lys463Thr)
2g.48688155T>ACA346745613GTF2A1L,LHCGR,STON1-GTF2A1Lc.1642A>T (p.Lys548Ter)
c.948-16A>T (n.948-16A>T)
c.3441+16475T>A (n.3441+16475T>A)
c.*386A>T (n.*386A>T)
c.1561A>T (p.Lys521Ter)
c.276+16475T>A (n.276+16475T>A)
c.*220+6069A>T (n.*220+6069A>T)
c.685A>T (p.Lys229Ter)
c.712A>T (p.Lys238Ter)
c.1567A>T (p.Lys523Ter)
c.1381A>T (p.Lys461Ter)
c.1300A>T (p.Lys434Ter)
c.1006A>T (p.Lys336Ter)
c.1387A>T (p.Lys463Ter)
2g.48688155T>CCA346745621GTF2A1L,LHCGR,STON1-GTF2A1Lc.1642A>G (p.Lys548Glu)
c.948-16A>G (n.948-16A>G)
c.3441+16475T>C (n.3441+16475T>C)
c.*386A>G (n.*386A>G)
c.1561A>G (p.Lys521Glu)
c.276+16475T>C (n.276+16475T>C)
c.*220+6069A>G (n.*220+6069A>G)
c.685A>G (p.Lys229Glu)
c.712A>G (p.Lys238Glu)
c.1567A>G (p.Lys523Glu)
c.1381A>G (p.Lys461Glu)
c.1300A>G (p.Lys434Glu)
c.1006A>G (p.Lys336Glu)
c.1387A>G (p.Lys463Glu)
2g.48688155T>GCA346745615GTF2A1L,LHCGR,STON1-GTF2A1Lc.1642A>C (p.Lys548Gln)
c.948-16A>C (n.948-16A>C)
c.3441+16475T>G (n.3441+16475T>G)
c.*386A>C (n.*386A>C)
c.1561A>C (p.Lys521Gln)
c.276+16475T>G (n.276+16475T>G)
c.*220+6069A>C (n.*220+6069A>C)
c.685A>C (p.Lys229Gln)
c.712A>C (p.Lys238Gln)
c.1567A>C (p.Lys523Gln)
c.1381A>C (p.Lys461Gln)
c.1300A>C (p.Lys434Gln)
c.1006A>C (p.Lys336Gln)
c.1387A>C (p.Lys463Gln)
2g.48688156A>CCA346745624GTF2A1L,LHCGR,STON1-GTF2A1Lc.1641T>G (p.Ile547Met)
c.948-17T>G (n.948-17T>G)
c.3441+16476A>C (n.3441+16476A>C)
c.*385T>G (n.*385T>G)
c.1560T>G (p.Ile520Met)
c.276+16476A>C (n.276+16476A>C)
c.*220+6068T>G (n.*220+6068T>G)
c.684T>G (p.Ile228Met)
c.711T>G (p.Ile237Met)
c.1566T>G (p.Ile522Met)
c.1380T>G (p.Ile460Met)
c.1299T>G (p.Ile433Met)
c.1005T>G (p.Ile335Met)
c.1386T>G (p.Ile462Met)
2g.48688156A>GCA426125175GTF2A1L,LHCGR,STON1-GTF2A1Lc.1641T>C (p.Ile547=)
c.948-17T>C (n.948-17T>C)
c.3441+16476A>G (n.3441+16476A>G)
c.*385T>C (n.*385T>C)
c.1560T>C (p.Ile520=)
c.276+16476A>G (n.276+16476A>G)
c.*220+6068T>C (n.*220+6068T>C)
c.684T>C (p.Ile228=)
c.711T>C (p.Ile237=)
c.1566T>C (p.Ile522=)
c.1380T>C (p.Ile460=)
c.1299T>C (p.Ile433=)
c.1005T>C (p.Ile335=)
c.1386T>C (p.Ile462=)
2g.48688156A>TCA426125174GTF2A1L,LHCGR,STON1-GTF2A1Lc.1641T>A (p.Ile547=)
c.948-17T>A (n.948-17T>A)
c.3441+16476A>T (n.3441+16476A>T)
c.*385T>A (n.*385T>A)
c.1560T>A (p.Ile520=)
c.276+16476A>T (n.276+16476A>T)
c.*220+6068T>A (n.*220+6068T>A)
c.684T>A (p.Ile228=)
c.711T>A (p.Ile237=)
c.1566T>A (p.Ile522=)
c.1380T>A (p.Ile460=)
c.1299T>A (p.Ile433=)
c.1005T>A (p.Ile335=)
c.1386T>A (p.Ile462=)
2g.48688157A>CCA346745631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1640T>G (p.Ile547Ser)
c.948-18T>G (n.948-18T>G)
c.3441+16477A>C (n.3441+16477A>C)
c.*384T>G (n.*384T>G)
c.1559T>G (p.Ile520Ser)
c.276+16477A>C (n.276+16477A>C)
c.*220+6067T>G (n.*220+6067T>G)
c.683T>G (p.Ile228Ser)
c.710T>G (p.Ile237Ser)
c.1565T>G (p.Ile522Ser)
c.1379T>G (p.Ile460Ser)
c.1298T>G (p.Ile433Ser)
c.1004T>G (p.Ile335Ser)
c.1385T>G (p.Ile462Ser)
2g.48688157A>GCA346745640GTF2A1L,LHCGR,STON1-GTF2A1Lc.1640T>C (p.Ile547Thr)
c.948-18T>C (n.948-18T>C)
c.3441+16477A>G (n.3441+16477A>G)
c.*384T>C (n.*384T>C)
c.1559T>C (p.Ile520Thr)
c.276+16477A>G (n.276+16477A>G)
c.*220+6067T>C (n.*220+6067T>C)
c.683T>C (p.Ile228Thr)
c.710T>C (p.Ile237Thr)
c.1565T>C (p.Ile522Thr)
c.1379T>C (p.Ile460Thr)
c.1298T>C (p.Ile433Thr)
c.1004T>C (p.Ile335Thr)
c.1385T>C (p.Ile462Thr)
2g.48688157A>TCA346745642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1640T>A (p.Ile547Asn)
c.948-18T>A (n.948-18T>A)
c.3441+16477A>T (n.3441+16477A>T)
c.*384T>A (n.*384T>A)
c.1559T>A (p.Ile520Asn)
c.276+16477A>T (n.276+16477A>T)
c.*220+6067T>A (n.*220+6067T>A)
c.683T>A (p.Ile228Asn)
c.710T>A (p.Ile237Asn)
c.1565T>A (p.Ile522Asn)
c.1379T>A (p.Ile460Asn)
c.1298T>A (p.Ile433Asn)
c.1004T>A (p.Ile335Asn)
c.1385T>A (p.Ile462Asn)
2g.48688158T>ACA346745647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1639A>T (p.Ile547Phe)
c.948-19A>T (n.948-19A>T)
c.3441+16478T>A (n.3441+16478T>A)
c.*383A>T (n.*383A>T)
c.1558A>T (p.Ile520Phe)
c.276+16478T>A (n.276+16478T>A)
c.*220+6066A>T (n.*220+6066A>T)
c.682A>T (p.Ile228Phe)
c.709A>T (p.Ile237Phe)
c.1564A>T (p.Ile522Phe)
c.1378A>T (p.Ile460Phe)
c.1297A>T (p.Ile433Phe)
c.1003A>T (p.Ile335Phe)
c.1384A>T (p.Ile462Phe)
2g.48688158T>CCA346745648GTF2A1L,LHCGR,STON1-GTF2A1Lc.1639A>G (p.Ile547Val)
c.948-19A>G (n.948-19A>G)
c.3441+16478T>C (n.3441+16478T>C)
c.*383A>G (n.*383A>G)
c.1558A>G (p.Ile520Val)
c.276+16478T>C (n.276+16478T>C)
c.*220+6066A>G (n.*220+6066A>G)
c.682A>G (p.Ile228Val)
c.709A>G (p.Ile237Val)
c.1564A>G (p.Ile522Val)
c.1378A>G (p.Ile460Val)
c.1297A>G (p.Ile433Val)
c.1003A>G (p.Ile335Val)
c.1384A>G (p.Ile462Val)
2g.48688158T>GCA346745650GTF2A1L,LHCGR,STON1-GTF2A1Lc.1639A>C (p.Ile547Leu)
c.948-19A>C (n.948-19A>C)
c.3441+16478T>G (n.3441+16478T>G)
c.*383A>C (n.*383A>C)
c.1558A>C (p.Ile520Leu)
c.276+16478T>G (n.276+16478T>G)
c.*220+6066A>C (n.*220+6066A>C)
c.682A>C (p.Ile228Leu)
c.709A>C (p.Ile237Leu)
c.1564A>C (p.Ile522Leu)
c.1378A>C (p.Ile460Leu)
c.1297A>C (p.Ile433Leu)
c.1003A>C (p.Ile335Leu)
c.1384A>C (p.Ile462Leu)
2g.48688159G>ACA1653008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C>T (p.Tyr546=)
c.948-20C>T (n.948-20C>T)
c.3441+16479G>A (n.3441+16479G>A)
c.*382C>T (n.*382C>T)
c.1557C>T (p.Tyr519=)
c.276+16479G>A (n.276+16479G>A)
c.*220+6065C>T (n.*220+6065C>T)
c.681C>T (p.Tyr227=)
c.708C>T (p.Tyr236=)
c.1563C>T (p.Tyr521=)
c.1377C>T (p.Tyr459=)
c.1296C>T (p.Tyr432=)
c.1002C>T (p.Tyr334=)
c.1383C>T (p.Tyr461=)
 dbSNP ExAC gnomAD v4
2g.48688159G>CCA346745659GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C>G (p.Tyr546Ter)
c.948-20C>G (n.948-20C>G)
c.3441+16479G>C (n.3441+16479G>C)
c.*382C>G (n.*382C>G)
c.1557C>G (p.Tyr519Ter)
c.276+16479G>C (n.276+16479G>C)
c.*220+6065C>G (n.*220+6065C>G)
c.681C>G (p.Tyr227Ter)
c.708C>G (p.Tyr236Ter)
c.1563C>G (p.Tyr521Ter)
c.1377C>G (p.Tyr459Ter)
c.1296C>G (p.Tyr432Ter)
c.1002C>G (p.Tyr334Ter)
c.1383C>G (p.Tyr461Ter)
2g.48688159G=CA1248601012GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C= (p.Tyr546=)
c.948-20C= (n.948-20C=)
c.3441+16479G= (n.3441+16479G=)
c.*382C= (n.*382C=)
c.1557C= (p.Tyr519=)
c.276+16479G= (n.276+16479G=)
c.*220+6065C= (n.*220+6065C=)
c.681C= (p.Tyr227=)
c.708C= (p.Tyr236=)
c.1563C= (p.Tyr521=)
c.1377C= (p.Tyr459=)
c.1296C= (p.Tyr432=)
c.1002C= (p.Tyr334=)
c.1383C= (p.Tyr461=)
2g.48688159G>TCA346745663GTF2A1L,LHCGR,STON1-GTF2A1Lc.1638C>A (p.Tyr546Ter)
c.948-20C>A (n.948-20C>A)
c.3441+16479G>T (n.3441+16479G>T)
c.*382C>A (n.*382C>A)
c.1557C>A (p.Tyr519Ter)
c.276+16479G>T (n.276+16479G>T)
c.*220+6065C>A (n.*220+6065C>A)
c.681C>A (p.Tyr227Ter)
c.708C>A (p.Tyr236Ter)
c.1563C>A (p.Tyr521Ter)
c.1377C>A (p.Tyr459Ter)
c.1296C>A (p.Tyr432Ter)
c.1002C>A (p.Tyr334Ter)
c.1383C>A (p.Tyr461Ter)
2g.48688160T>ACA346745671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1637A>T (p.Tyr546Phe)
c.948-21A>T (n.948-21A>T)
c.3441+16480T>A (n.3441+16480T>A)
c.*381A>T (n.*381A>T)
c.1556A>T (p.Tyr519Phe)
c.276+16480T>A (n.276+16480T>A)
c.*220+6064A>T (n.*220+6064A>T)
c.680A>T (p.Tyr227Phe)
c.707A>T (p.Tyr236Phe)
c.1562A>T (p.Tyr521Phe)
c.1376A>T (p.Tyr459Phe)
c.1295A>T (p.Tyr432Phe)
c.1001A>T (p.Tyr334Phe)
c.1382A>T (p.Tyr461Phe)
2g.48688160T>CCA346745668GTF2A1L,LHCGR,STON1-GTF2A1Lc.1637A>G (p.Tyr546Cys)
c.948-21A>G (n.948-21A>G)
c.3441+16480T>C (n.3441+16480T>C)
c.*381A>G (n.*381A>G)
c.1556A>G (p.Tyr519Cys)
c.276+16480T>C (n.276+16480T>C)
c.*220+6064A>G (n.*220+6064A>G)
c.680A>G (p.Tyr227Cys)
c.707A>G (p.Tyr236Cys)
c.1562A>G (p.Tyr521Cys)
c.1376A>G (p.Tyr459Cys)
c.1295A>G (p.Tyr432Cys)
c.1001A>G (p.Tyr334Cys)
c.1382A>G (p.Tyr461Cys)
2g.48688160T>GCA346745666GTF2A1L,LHCGR,STON1-GTF2A1Lc.1637A>C (p.Tyr546Ser)
c.948-21A>C (n.948-21A>C)
c.3441+16480T>G (n.3441+16480T>G)
c.*381A>C (n.*381A>C)
c.1556A>C (p.Tyr519Ser)
c.276+16480T>G (n.276+16480T>G)
c.*220+6064A>C (n.*220+6064A>C)
c.680A>C (p.Tyr227Ser)
c.707A>C (p.Tyr236Ser)
c.1562A>C (p.Tyr521Ser)
c.1376A>C (p.Tyr459Ser)
c.1295A>C (p.Tyr432Ser)
c.1001A>C (p.Tyr334Ser)
c.1382A>C (p.Tyr461Ser)
2g.48688161A>CCA346745675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1636T>G (p.Tyr546Asp)
c.948-22T>G (n.948-22T>G)
c.3441+16481A>C (n.3441+16481A>C)
c.*380T>G (n.*380T>G)
c.1555T>G (p.Tyr519Asp)
c.276+16481A>C (n.276+16481A>C)
c.*220+6063T>G (n.*220+6063T>G)
c.679T>G (p.Tyr227Asp)
c.706T>G (p.Tyr236Asp)
c.1561T>G (p.Tyr521Asp)
c.1375T>G (p.Tyr459Asp)
c.1294T>G (p.Tyr432Asp)
c.1000T>G (p.Tyr334Asp)
c.1381T>G (p.Tyr461Asp)
2g.48688161A>GCA346745678GTF2A1L,LHCGR,STON1-GTF2A1Lc.1636T>C (p.Tyr546His)
c.948-22T>C (n.948-22T>C)
c.3441+16481A>G (n.3441+16481A>G)
c.*380T>C (n.*380T>C)
c.1555T>C (p.Tyr519His)
c.276+16481A>G (n.276+16481A>G)
c.*220+6063T>C (n.*220+6063T>C)
c.679T>C (p.Tyr227His)
c.706T>C (p.Tyr236His)
c.1561T>C (p.Tyr521His)
c.1375T>C (p.Tyr459His)
c.1294T>C (p.Tyr432His)
c.1000T>C (p.Tyr334His)
c.1381T>C (p.Tyr461His)
 gnomAD v4
2g.48688161A>TCA346745680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1636T>A (p.Tyr546Asn)
c.948-22T>A (n.948-22T>A)
c.3441+16481A>T (n.3441+16481A>T)
c.*380T>A (n.*380T>A)
c.1555T>A (p.Tyr519Asn)
c.276+16481A>T (n.276+16481A>T)
c.*220+6063T>A (n.*220+6063T>A)
c.679T>A (p.Tyr227Asn)
c.706T>A (p.Tyr236Asn)
c.1561T>A (p.Tyr521Asn)
c.1375T>A (p.Tyr459Asn)
c.1294T>A (p.Tyr432Asn)
c.1000T>A (p.Tyr334Asn)
c.1381T>A (p.Tyr461Asn)
2g.48688162G>ACA426125189GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C>T (p.Cys545=)
c.948-23C>T (n.948-23C>T)
c.3441+16482G>A (n.3441+16482G>A)
c.*379C>T (n.*379C>T)
c.1554C>T (p.Cys518=)
c.276+16482G>A (n.276+16482G>A)
c.*220+6062C>T (n.*220+6062C>T)
c.678C>T (p.Cys226=)
c.705C>T (p.Cys235=)
c.1560C>T (p.Cys520=)
c.1374C>T (p.Cys458=)
c.1293C>T (p.Cys431=)
c.999C>T (p.Cys333=)
c.1380C>T (p.Cys460=)
2g.48688162G>CCA346745684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C>G (p.Cys545Trp)
c.948-23C>G (n.948-23C>G)
c.3441+16482G>C (n.3441+16482G>C)
c.*379C>G (n.*379C>G)
c.1554C>G (p.Cys518Trp)
c.276+16482G>C (n.276+16482G>C)
c.*220+6062C>G (n.*220+6062C>G)
c.678C>G (p.Cys226Trp)
c.705C>G (p.Cys235Trp)
c.1560C>G (p.Cys520Trp)
c.1374C>G (p.Cys458Trp)
c.1293C>G (p.Cys431Trp)
c.999C>G (p.Cys333Trp)
c.1380C>G (p.Cys460Trp)
 gnomAD v4
2g.48688162G=CA1248601013GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C= (p.Cys545=)
c.948-23C= (n.948-23C=)
c.3441+16482G= (n.3441+16482G=)
c.*379C= (n.*379C=)
c.1554C= (p.Cys518=)
c.276+16482G= (n.276+16482G=)
c.*220+6062C= (n.*220+6062C=)
c.678C= (p.Cys226=)
c.705C= (p.Cys235=)
c.1560C= (p.Cys520=)
c.1374C= (p.Cys458=)
c.1293C= (p.Cys431=)
c.999C= (p.Cys333=)
c.1380C= (p.Cys460=)
2g.48688162G>TCA250647GTF2A1L,LHCGR,STON1-GTF2A1Lc.1635C>A (p.Cys545Ter)
c.948-23C>A (n.948-23C>A)
c.3441+16482G>T (n.3441+16482G>T)
c.*379C>A (n.*379C>A)
c.1554C>A (p.Cys518Ter)
c.276+16482G>T (n.276+16482G>T)
c.*220+6062C>A (n.*220+6062C>A)
c.678C>A (p.Cys226Ter)
c.705C>A (p.Cys235Ter)
c.1560C>A (p.Cys520Ter)
c.1374C>A (p.Cys458Ter)
c.1293C>A (p.Cys431Ter)
c.999C>A (p.Cys333Ter)
c.1380C>A (p.Cys460Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688163C>ACA346745689GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G>T (p.Cys545Phe)
c.948-24G>T (n.948-24G>T)
c.3441+16483C>A (n.3441+16483C>A)
c.*378G>T (n.*378G>T)
c.1553G>T (p.Cys518Phe)
c.276+16483C>A (n.276+16483C>A)
c.*220+6061G>T (n.*220+6061G>T)
c.677G>T (p.Cys226Phe)
c.704G>T (p.Cys235Phe)
c.1559G>T (p.Cys520Phe)
c.1373G>T (p.Cys458Phe)
c.1292G>T (p.Cys431Phe)
c.998G>T (p.Cys333Phe)
c.1379G>T (p.Cys460Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688163C=CA1248601014GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G= (p.Cys545=)
c.948-24G= (n.948-24G=)
c.3441+16483C= (n.3441+16483C=)
c.*378G= (n.*378G=)
c.1553G= (p.Cys518=)
c.276+16483C= (n.276+16483C=)
c.*220+6061G= (n.*220+6061G=)
c.677G= (p.Cys226=)
c.704G= (p.Cys235=)
c.1559G= (p.Cys520=)
c.1373G= (p.Cys458=)
c.1292G= (p.Cys431=)
c.998G= (p.Cys333=)
c.1379G= (p.Cys460=)
2g.48688163C>GCA346745688GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G>C (p.Cys545Ser)
c.948-24G>C (n.948-24G>C)
c.3441+16483C>G (n.3441+16483C>G)
c.*378G>C (n.*378G>C)
c.1553G>C (p.Cys518Ser)
c.276+16483C>G (n.276+16483C>G)
c.*220+6061G>C (n.*220+6061G>C)
c.677G>C (p.Cys226Ser)
c.704G>C (p.Cys235Ser)
c.1559G>C (p.Cys520Ser)
c.1373G>C (p.Cys458Ser)
c.1292G>C (p.Cys431Ser)
c.998G>C (p.Cys333Ser)
c.1379G>C (p.Cys460Ser)
 gnomAD v4
2g.48688163C>TCA346745687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1634G>A (p.Cys545Tyr)
c.948-24G>A (n.948-24G>A)
c.3441+16483C>T (n.3441+16483C>T)
c.*378G>A (n.*378G>A)
c.1553G>A (p.Cys518Tyr)
c.276+16483C>T (n.276+16483C>T)
c.*220+6061G>A (n.*220+6061G>A)
c.677G>A (p.Cys226Tyr)
c.704G>A (p.Cys235Tyr)
c.1559G>A (p.Cys520Tyr)
c.1373G>A (p.Cys458Tyr)
c.1292G>A (p.Cys431Tyr)
c.998G>A (p.Cys333Tyr)
c.1379G>A (p.Cys460Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.48688164A>CCA346745691GTF2A1L,LHCGR,STON1-GTF2A1Lc.1633T>G (p.Cys545Gly)
c.948-25T>G (n.948-25T>G)
c.3441+16484A>C (n.3441+16484A>C)
c.*377T>G (n.*377T>G)
c.1552T>G (p.Cys518Gly)
c.276+16484A>C (n.276+16484A>C)
c.*220+6060T>G (n.*220+6060T>G)
c.676T>G (p.Cys226Gly)
c.703T>G (p.Cys235Gly)
c.1558T>G (p.Cys520Gly)
c.1372T>G (p.Cys458Gly)
c.1291T>G (p.Cys431Gly)
c.997T>G (p.Cys333Gly)
c.1378T>G (p.Cys460Gly)
2g.48688164A>GCA346745693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1633T>C (p.Cys545Arg)
c.948-25T>C (n.948-25T>C)
c.3441+16484A>G (n.3441+16484A>G)
c.*377T>C (n.*377T>C)
c.1552T>C (p.Cys518Arg)
c.276+16484A>G (n.276+16484A>G)
c.*220+6060T>C (n.*220+6060T>C)
c.676T>C (p.Cys226Arg)
c.703T>C (p.Cys235Arg)
c.1558T>C (p.Cys520Arg)
c.1372T>C (p.Cys458Arg)
c.1291T>C (p.Cys431Arg)
c.997T>C (p.Cys333Arg)
c.1378T>C (p.Cys460Arg)
2g.48688164A>TCA346745694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1633T>A (p.Cys545Ser)
c.948-25T>A (n.948-25T>A)
c.3441+16484A>T (n.3441+16484A>T)
c.*377T>A (n.*377T>A)
c.1552T>A (p.Cys518Ser)
c.276+16484A>T (n.276+16484A>T)
c.*220+6060T>A (n.*220+6060T>A)
c.676T>A (p.Cys226Ser)
c.703T>A (p.Cys235Ser)
c.1558T>A (p.Cys520Ser)
c.1372T>A (p.Cys458Ser)
c.1291T>A (p.Cys431Ser)
c.997T>A (p.Cys333Ser)
c.1378T>A (p.Cys460Ser)
2g.48688165A>CCA426125196GTF2A1L,LHCGR,STON1-GTF2A1Lc.1632T>G (p.Ala544=)
c.948-26T>G (n.948-26T>G)
c.3441+16485A>C (n.3441+16485A>C)
c.*376T>G (n.*376T>G)
c.1551T>G (p.Ala517=)
c.276+16485A>C (n.276+16485A>C)
c.*220+6059T>G (n.*220+6059T>G)
c.675T>G (p.Ala225=)
c.702T>G (p.Ala234=)
c.1557T>G (p.Ala519=)
c.1371T>G (p.Ala457=)
c.1290T>G (p.Ala430=)
c.996T>G (p.Ala332=)
c.1377T>G (p.Ala459=)
2g.48688165A>GCA426125198GTF2A1L,LHCGR,STON1-GTF2A1Lc.1632T>C (p.Ala544=)
c.948-26T>C (n.948-26T>C)
c.3441+16485A>G (n.3441+16485A>G)
c.*376T>C (n.*376T>C)
c.1551T>C (p.Ala517=)
c.276+16485A>G (n.276+16485A>G)
c.*220+6059T>C (n.*220+6059T>C)
c.675T>C (p.Ala225=)
c.702T>C (p.Ala234=)
c.1557T>C (p.Ala519=)
c.1371T>C (p.Ala457=)
c.1290T>C (p.Ala430=)
c.996T>C (p.Ala332=)
c.1377T>C (p.Ala459=)
2g.48688165A>TCA426125199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1632T>A (p.Ala544=)
c.948-26T>A (n.948-26T>A)
c.3441+16485A>T (n.3441+16485A>T)
c.*376T>A (n.*376T>A)
c.1551T>A (p.Ala517=)
c.276+16485A>T (n.276+16485A>T)
c.*220+6059T>A (n.*220+6059T>A)
c.675T>A (p.Ala225=)
c.702T>A (p.Ala234=)
c.1557T>A (p.Ala519=)
c.1371T>A (p.Ala457=)
c.1290T>A (p.Ala430=)
c.996T>A (p.Ala332=)
c.1377T>A (p.Ala459=)
2g.48688166G>ACA346745698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1631C>T (p.Ala544Val)
c.948-27C>T (n.948-27C>T)
c.3441+16486G>A (n.3441+16486G>A)
c.*375C>T (n.*375C>T)
c.1550C>T (p.Ala517Val)
c.276+16486G>A (n.276+16486G>A)
c.*220+6058C>T (n.*220+6058C>T)
c.674C>T (p.Ala225Val)
c.701C>T (p.Ala234Val)
c.1556C>T (p.Ala519Val)
c.1370C>T (p.Ala457Val)
c.1289C>T (p.Ala430Val)
c.995C>T (p.Ala332Val)
c.1376C>T (p.Ala459Val)
2g.48688166G>CCA346745702GTF2A1L,LHCGR,STON1-GTF2A1Lc.1631C>G (p.Ala544Gly)
c.948-27C>G (n.948-27C>G)
c.3441+16486G>C (n.3441+16486G>C)
c.*375C>G (n.*375C>G)
c.1550C>G (p.Ala517Gly)
c.276+16486G>C (n.276+16486G>C)
c.*220+6058C>G (n.*220+6058C>G)
c.674C>G (p.Ala225Gly)
c.701C>G (p.Ala234Gly)
c.1556C>G (p.Ala519Gly)
c.1370C>G (p.Ala457Gly)
c.1289C>G (p.Ala430Gly)
c.995C>G (p.Ala332Gly)
c.1376C>G (p.Ala459Gly)
2g.48688166G>TCA346745704GTF2A1L,LHCGR,STON1-GTF2A1Lc.1631C>A (p.Ala544Asp)
c.948-27C>A (n.948-27C>A)
c.3441+16486G>T (n.3441+16486G>T)
c.*375C>A (n.*375C>A)
c.1550C>A (p.Ala517Asp)
c.276+16486G>T (n.276+16486G>T)
c.*220+6058C>A (n.*220+6058C>A)
c.674C>A (p.Ala225Asp)
c.701C>A (p.Ala234Asp)
c.1556C>A (p.Ala519Asp)
c.1370C>A (p.Ala457Asp)
c.1289C>A (p.Ala430Asp)
c.995C>A (p.Ala332Asp)
c.1376C>A (p.Ala459Asp)
 gnomAD v4
2g.48688167C>ACA346745709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1630G>T (p.Ala544Ser)
c.948-28G>T (n.948-28G>T)
c.3441+16487C>A (n.3441+16487C>A)
c.*374G>T (n.*374G>T)
c.1549G>T (p.Ala517Ser)
c.276+16487C>A (n.276+16487C>A)
c.*220+6057G>T (n.*220+6057G>T)
c.673G>T (p.Ala225Ser)
c.700G>T (p.Ala234Ser)
c.1555G>T (p.Ala519Ser)
c.1369G>T (p.Ala457Ser)
c.1288G>T (p.Ala430Ser)
c.994G>T (p.Ala332Ser)
c.1375G>T (p.Ala459Ser)
2g.48688167C>GCA346745717GTF2A1L,LHCGR,STON1-GTF2A1Lc.1630G>C (p.Ala544Pro)
c.948-28G>C (n.948-28G>C)
c.3441+16487C>G (n.3441+16487C>G)
c.*374G>C (n.*374G>C)
c.1549G>C (p.Ala517Pro)
c.276+16487C>G (n.276+16487C>G)
c.*220+6057G>C (n.*220+6057G>C)
c.673G>C (p.Ala225Pro)
c.700G>C (p.Ala234Pro)
c.1555G>C (p.Ala519Pro)
c.1369G>C (p.Ala457Pro)
c.1288G>C (p.Ala430Pro)
c.994G>C (p.Ala332Pro)
c.1375G>C (p.Ala459Pro)
2g.48688167C>TCA346745712GTF2A1L,LHCGR,STON1-GTF2A1Lc.1630G>A (p.Ala544Thr)
c.948-28G>A (n.948-28G>A)
c.3441+16487C>T (n.3441+16487C>T)
c.*374G>A (n.*374G>A)
c.1549G>A (p.Ala517Thr)
c.276+16487C>T (n.276+16487C>T)
c.*220+6057G>A (n.*220+6057G>A)
c.673G>A (p.Ala225Thr)
c.700G>A (p.Ala234Thr)
c.1555G>A (p.Ala519Thr)
c.1369G>A (p.Ala457Thr)
c.1288G>A (p.Ala430Thr)
c.994G>A (p.Ala332Thr)
c.1375G>A (p.Ala459Thr)
2g.48688168A>CCA346745720GTF2A1L,LHCGR,STON1-GTF2A1Lc.1629T>G (p.Cys543Trp)
c.948-29T>G (n.948-29T>G)
c.3441+16488A>C (n.3441+16488A>C)
c.*373T>G (n.*373T>G)
c.1548T>G (p.Cys516Trp)
c.276+16488A>C (n.276+16488A>C)
c.*220+6056T>G (n.*220+6056T>G)
c.672T>G (p.Cys224Trp)
c.699T>G (p.Cys233Trp)
c.1554T>G (p.Cys518Trp)
c.1368T>G (p.Cys456Trp)
c.1287T>G (p.Cys429Trp)
c.993T>G (p.Cys331Trp)
c.1374T>G (p.Cys458Trp)
2g.48688168A>GCA426125202GTF2A1L,LHCGR,STON1-GTF2A1Lc.1629T>C (p.Cys543=)
c.948-29T>C (n.948-29T>C)
c.3441+16488A>G (n.3441+16488A>G)
c.*373T>C (n.*373T>C)
c.1548T>C (p.Cys516=)
c.276+16488A>G (n.276+16488A>G)
c.*220+6056T>C (n.*220+6056T>C)
c.672T>C (p.Cys224=)
c.699T>C (p.Cys233=)
c.1554T>C (p.Cys518=)
c.1368T>C (p.Cys456=)
c.1287T>C (p.Cys429=)
c.993T>C (p.Cys331=)
c.1374T>C (p.Cys458=)
2g.48688168A>TCA346745721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1629T>A (p.Cys543Ter)
c.948-29T>A (n.948-29T>A)
c.3441+16488A>T (n.3441+16488A>T)
c.*373T>A (n.*373T>A)
c.1548T>A (p.Cys516Ter)
c.276+16488A>T (n.276+16488A>T)
c.*220+6056T>A (n.*220+6056T>A)
c.672T>A (p.Cys224Ter)
c.699T>A (p.Cys233Ter)
c.1554T>A (p.Cys518Ter)
c.1368T>A (p.Cys456Ter)
c.1287T>A (p.Cys429Ter)
c.993T>A (p.Cys331Ter)
c.1374T>A (p.Cys458Ter)
2g.48688169C>ACA346745724GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G>T (p.Cys543Phe)
c.948-30G>T (n.948-30G>T)
c.3441+16489C>A (n.3441+16489C>A)
c.*372G>T (n.*372G>T)
c.1547G>T (p.Cys516Phe)
c.276+16489C>A (n.276+16489C>A)
c.*220+6055G>T (n.*220+6055G>T)
c.671G>T (p.Cys224Phe)
c.698G>T (p.Cys233Phe)
c.1553G>T (p.Cys518Phe)
c.1367G>T (p.Cys456Phe)
c.1286G>T (p.Cys429Phe)
c.992G>T (p.Cys331Phe)
c.1373G>T (p.Cys458Phe)
 dbSNP
2g.48688169C=CA1248601015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G= (p.Cys543=)
c.948-30G= (n.948-30G=)
c.3441+16489C= (n.3441+16489C=)
c.*372G= (n.*372G=)
c.1547G= (p.Cys516=)
c.276+16489C= (n.276+16489C=)
c.*220+6055G= (n.*220+6055G=)
c.671G= (p.Cys224=)
c.698G= (p.Cys233=)
c.1553G= (p.Cys518=)
c.1367G= (p.Cys456=)
c.1286G= (p.Cys429=)
c.992G= (p.Cys331=)
c.1373G= (p.Cys458=)
2g.48688169C>GCA346745727GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G>C (p.Cys543Ser)
c.948-30G>C (n.948-30G>C)
c.3441+16489C>G (n.3441+16489C>G)
c.*372G>C (n.*372G>C)
c.1547G>C (p.Cys516Ser)
c.276+16489C>G (n.276+16489C>G)
c.*220+6055G>C (n.*220+6055G>C)
c.671G>C (p.Cys224Ser)
c.698G>C (p.Cys233Ser)
c.1553G>C (p.Cys518Ser)
c.1367G>C (p.Cys456Ser)
c.1286G>C (p.Cys429Ser)
c.992G>C (p.Cys331Ser)
c.1373G>C (p.Cys458Ser)
2g.48688169C>TCA1653009GTF2A1L,LHCGR,STON1-GTF2A1Lc.1628G>A (p.Cys543Tyr)
c.948-30G>A (n.948-30G>A)
c.3441+16489C>T (n.3441+16489C>T)
c.*372G>A (n.*372G>A)
c.1547G>A (p.Cys516Tyr)
c.276+16489C>T (n.276+16489C>T)
c.*220+6055G>A (n.*220+6055G>A)
c.671G>A (p.Cys224Tyr)
c.698G>A (p.Cys233Tyr)
c.1553G>A (p.Cys518Tyr)
c.1367G>A (p.Cys456Tyr)
c.1286G>A (p.Cys429Tyr)
c.992G>A (p.Cys331Tyr)
c.1373G>A (p.Cys458Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688170A=CA1248601016GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T= (p.Cys543=)
c.948-31T= (n.948-31T=)
c.3441+16490A= (n.3441+16490A=)
c.*371T= (n.*371T=)
c.1546T= (p.Cys516=)
c.276+16490A= (n.276+16490A=)
c.*220+6054T= (n.*220+6054T=)
c.670T= (p.Cys224=)
c.697T= (p.Cys233=)
c.1552T= (p.Cys518=)
c.1366T= (p.Cys456=)
c.1285T= (p.Cys429=)
c.991T= (p.Cys331=)
c.1372T= (p.Cys458=)
2g.48688170A>CCA346745735GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T>G (p.Cys543Gly)
c.948-31T>G (n.948-31T>G)
c.3441+16490A>C (n.3441+16490A>C)
c.*371T>G (n.*371T>G)
c.1546T>G (p.Cys516Gly)
c.276+16490A>C (n.276+16490A>C)
c.*220+6054T>G (n.*220+6054T>G)
c.670T>G (p.Cys224Gly)
c.697T>G (p.Cys233Gly)
c.1552T>G (p.Cys518Gly)
c.1366T>G (p.Cys456Gly)
c.1285T>G (p.Cys429Gly)
c.991T>G (p.Cys331Gly)
c.1372T>G (p.Cys458Gly)
2g.48688170A>GCA250646GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T>C (p.Cys543Arg)
c.948-31T>C (n.948-31T>C)
c.3441+16490A>G (n.3441+16490A>G)
c.*371T>C (n.*371T>C)
c.1546T>C (p.Cys516Arg)
c.276+16490A>G (n.276+16490A>G)
c.*220+6054T>C (n.*220+6054T>C)
c.670T>C (p.Cys224Arg)
c.697T>C (p.Cys233Arg)
c.1552T>C (p.Cys518Arg)
c.1366T>C (p.Cys456Arg)
c.1285T>C (p.Cys429Arg)
c.991T>C (p.Cys331Arg)
c.1372T>C (p.Cys458Arg)
 ClinVar dbSNP
2g.48688170A>TCA346745740GTF2A1L,LHCGR,STON1-GTF2A1Lc.1627T>A (p.Cys543Ser)
c.948-31T>A (n.948-31T>A)
c.3441+16490A>T (n.3441+16490A>T)
c.*371T>A (n.*371T>A)
c.1546T>A (p.Cys516Ser)
c.276+16490A>T (n.276+16490A>T)
c.*220+6054T>A (n.*220+6054T>A)
c.670T>A (p.Cys224Ser)
c.697T>A (p.Cys233Ser)
c.1552T>A (p.Cys518Ser)
c.1366T>A (p.Cys456Ser)
c.1285T>A (p.Cys429Ser)
c.991T>A (p.Cys331Ser)
c.1372T>A (p.Cys458Ser)
2g.48688171A=CA1248601017GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T= (p.Ile542=)
c.948-32T= (n.948-32T=)
c.3441+16491A= (n.3441+16491A=)
c.*370T= (n.*370T=)
c.1545T= (p.Ile515=)
c.276+16491A= (n.276+16491A=)
c.*220+6053T= (n.*220+6053T=)
c.669T= (p.Ile223=)
c.696T= (p.Ile232=)
c.1551T= (p.Ile517=)
c.1365T= (p.Ile455=)
c.1284T= (p.Ile428=)
c.990T= (p.Ile330=)
c.1371T= (p.Ile457=)
2g.48688171A>CCA346745743GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T>G (p.Ile542Met)
c.948-32T>G (n.948-32T>G)
c.3441+16491A>C (n.3441+16491A>C)
c.*370T>G (n.*370T>G)
c.1545T>G (p.Ile515Met)
c.276+16491A>C (n.276+16491A>C)
c.*220+6053T>G (n.*220+6053T>G)
c.669T>G (p.Ile223Met)
c.696T>G (p.Ile232Met)
c.1551T>G (p.Ile517Met)
c.1365T>G (p.Ile455Met)
c.1284T>G (p.Ile428Met)
c.990T>G (p.Ile330Met)
c.1371T>G (p.Ile457Met)
 dbSNP gnomAD v2
2g.48688171A>GCA426125205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T>C (p.Ile542=)
c.948-32T>C (n.948-32T>C)
c.3441+16491A>G (n.3441+16491A>G)
c.*370T>C (n.*370T>C)
c.1545T>C (p.Ile515=)
c.276+16491A>G (n.276+16491A>G)
c.*220+6053T>C (n.*220+6053T>C)
c.669T>C (p.Ile223=)
c.696T>C (p.Ile232=)
c.1551T>C (p.Ile517=)
c.1365T>C (p.Ile455=)
c.1284T>C (p.Ile428=)
c.990T>C (p.Ile330=)
c.1371T>C (p.Ile457=)
2g.48688171A>TCA426125206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1626T>A (p.Ile542=)
c.948-32T>A (n.948-32T>A)
c.3441+16491A>T (n.3441+16491A>T)
c.*370T>A (n.*370T>A)
c.1545T>A (p.Ile515=)
c.276+16491A>T (n.276+16491A>T)
c.*220+6053T>A (n.*220+6053T>A)
c.669T>A (p.Ile223=)
c.696T>A (p.Ile232=)
c.1551T>A (p.Ile517=)
c.1365T>A (p.Ile455=)
c.1284T>A (p.Ile428=)
c.990T>A (p.Ile330=)
c.1371T>A (p.Ile457=)
2g.48688172A=CA1248601018GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T= (p.Ile542=)
c.948-33T= (n.948-33T=)
c.3441+16492A= (n.3441+16492A=)
c.*369T= (n.*369T=)
c.1544T= (p.Ile515=)
c.276+16492A= (n.276+16492A=)
c.*220+6052T= (n.*220+6052T=)
c.668T= (p.Ile223=)
c.695T= (p.Ile232=)
c.1550T= (p.Ile517=)
c.1364T= (p.Ile455=)
c.1283T= (p.Ile428=)
c.989T= (p.Ile330=)
c.1370T= (p.Ile457=)
2g.48688172A>CCA346745748GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T>G (p.Ile542Ser)
c.948-33T>G (n.948-33T>G)
c.3441+16492A>C (n.3441+16492A>C)
c.*369T>G (n.*369T>G)
c.1544T>G (p.Ile515Ser)
c.276+16492A>C (n.276+16492A>C)
c.*220+6052T>G (n.*220+6052T>G)
c.668T>G (p.Ile223Ser)
c.695T>G (p.Ile232Ser)
c.1550T>G (p.Ile517Ser)
c.1364T>G (p.Ile455Ser)
c.1283T>G (p.Ile428Ser)
c.989T>G (p.Ile330Ser)
c.1370T>G (p.Ile457Ser)
2g.48688172A>GCA46752873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T>C (p.Ile542Thr)
c.948-33T>C (n.948-33T>C)
c.3441+16492A>G (n.3441+16492A>G)
c.*369T>C (n.*369T>C)
c.1544T>C (p.Ile515Thr)
c.276+16492A>G (n.276+16492A>G)
c.*220+6052T>C (n.*220+6052T>C)
c.668T>C (p.Ile223Thr)
c.695T>C (p.Ile232Thr)
c.1550T>C (p.Ile517Thr)
c.1364T>C (p.Ile455Thr)
c.1283T>C (p.Ile428Thr)
c.989T>C (p.Ile330Thr)
c.1370T>C (p.Ile457Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688172A>TCA346745752GTF2A1L,LHCGR,STON1-GTF2A1Lc.1625T>A (p.Ile542Asn)
c.948-33T>A (n.948-33T>A)
c.3441+16492A>T (n.3441+16492A>T)
c.*369T>A (n.*369T>A)
c.1544T>A (p.Ile515Asn)
c.276+16492A>T (n.276+16492A>T)
c.*220+6052T>A (n.*220+6052T>A)
c.668T>A (p.Ile223Asn)
c.695T>A (p.Ile232Asn)
c.1550T>A (p.Ile517Asn)
c.1364T>A (p.Ile455Asn)
c.1283T>A (p.Ile428Asn)
c.989T>A (p.Ile330Asn)
c.1370T>A (p.Ile457Asn)
2g.48688173T>ACA346745760GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A>T (p.Ile542Phe)
c.948-34A>T (n.948-34A>T)
c.3441+16493T>A (n.3441+16493T>A)
c.*368A>T (n.*368A>T)
c.1543A>T (p.Ile515Phe)
c.276+16493T>A (n.276+16493T>A)
c.*220+6051A>T (n.*220+6051A>T)
c.667A>T (p.Ile223Phe)
c.694A>T (p.Ile232Phe)
c.1549A>T (p.Ile517Phe)
c.1363A>T (p.Ile455Phe)
c.1282A>T (p.Ile428Phe)
c.988A>T (p.Ile330Phe)
c.1369A>T (p.Ile457Phe)
2g.48688173T>CCA346745757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A>G (p.Ile542Val)
c.948-34A>G (n.948-34A>G)
c.3441+16493T>C (n.3441+16493T>C)
c.*368A>G (n.*368A>G)
c.1543A>G (p.Ile515Val)
c.276+16493T>C (n.276+16493T>C)
c.*220+6051A>G (n.*220+6051A>G)
c.667A>G (p.Ile223Val)
c.694A>G (p.Ile232Val)
c.1549A>G (p.Ile517Val)
c.1363A>G (p.Ile455Val)
c.1282A>G (p.Ile428Val)
c.988A>G (p.Ile330Val)
c.1369A>G (p.Ile457Val)
 gnomAD v4
2g.48688173T>GCA123929GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A>C (p.Ile542Leu)
c.948-34A>C (n.948-34A>C)
c.3441+16493T>G (n.3441+16493T>G)
c.*368A>C (n.*368A>C)
c.1543A>C (p.Ile515Leu)
c.276+16493T>G (n.276+16493T>G)
c.*220+6051A>C (n.*220+6051A>C)
c.667A>C (p.Ile223Leu)
c.694A>C (p.Ile232Leu)
c.1549A>C (p.Ile517Leu)
c.1363A>C (p.Ile455Leu)
c.1282A>C (p.Ile428Leu)
c.988A>C (p.Ile330Leu)
c.1369A>C (p.Ile457Leu)
 ClinVar dbSNP
2g.48688173T=CA1248601019GTF2A1L,LHCGR,STON1-GTF2A1Lc.1624A= (p.Ile542=)
c.948-34A= (n.948-34A=)
c.3441+16493T= (n.3441+16493T=)
c.*368A= (n.*368A=)
c.1543A= (p.Ile515=)
c.276+16493T= (n.276+16493T=)
c.*220+6051A= (n.*220+6051A=)
c.667A= (p.Ile223=)
c.694A= (p.Ile232=)
c.1549A= (p.Ile517=)
c.1363A= (p.Ile455=)
c.1282A= (p.Ile428=)
c.988A= (p.Ile330=)
c.1369A= (p.Ile457=)
2g.48688174T>ACA426125211GTF2A1L,LHCGR,STON1-GTF2A1Lc.1623A>T (p.Ile541=)
c.948-35A>T (n.948-35A>T)
c.3441+16494T>A (n.3441+16494T>A)
c.*367A>T (n.*367A>T)
c.1542A>T (p.Ile514=)
c.276+16494T>A (n.276+16494T>A)
c.*220+6050A>T (n.*220+6050A>T)
c.666A>T (p.Ile222=)
c.693A>T (p.Ile231=)
c.1548A>T (p.Ile516=)
c.1362A>T (p.Ile454=)
c.1281A>T (p.Ile427=)
c.987A>T (p.Ile329=)
c.1368A>T (p.Ile456=)
2g.48688174T>CCA346745764GTF2A1L,LHCGR,STON1-GTF2A1Lc.1623A>G (p.Ile541Met)
c.948-35A>G (n.948-35A>G)
c.3441+16494T>C (n.3441+16494T>C)
c.*367A>G (n.*367A>G)
c.1542A>G (p.Ile514Met)
c.276+16494T>C (n.276+16494T>C)
c.*220+6050A>G (n.*220+6050A>G)
c.666A>G (p.Ile222Met)
c.693A>G (p.Ile231Met)
c.1548A>G (p.Ile516Met)
c.1362A>G (p.Ile454Met)
c.1281A>G (p.Ile427Met)
c.987A>G (p.Ile329Met)
c.1368A>G (p.Ile456Met)
2g.48688174T>GCA426125214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1623A>C (p.Ile541=)
c.948-35A>C (n.948-35A>C)
c.3441+16494T>G (n.3441+16494T>G)
c.*367A>C (n.*367A>C)
c.1542A>C (p.Ile514=)
c.276+16494T>G (n.276+16494T>G)
c.*220+6050A>C (n.*220+6050A>C)
c.666A>C (p.Ile222=)
c.693A>C (p.Ile231=)
c.1548A>C (p.Ile516=)
c.1362A>C (p.Ile454=)
c.1281A>C (p.Ile427=)
c.987A>C (p.Ile329=)
c.1368A>C (p.Ile456=)
2g.48688175A>CCA346745770GTF2A1L,LHCGR,STON1-GTF2A1Lc.1622T>G (p.Ile541Arg)
c.948-36T>G (n.948-36T>G)
c.3441+16495A>C (n.3441+16495A>C)
c.*366T>G (n.*366T>G)
c.1541T>G (p.Ile514Arg)
c.276+16495A>C (n.276+16495A>C)
c.*220+6049T>G (n.*220+6049T>G)
c.665T>G (p.Ile222Arg)
c.692T>G (p.Ile231Arg)
c.1547T>G (p.Ile516Arg)
c.1361T>G (p.Ile454Arg)
c.1280T>G (p.Ile427Arg)
c.986T>G (p.Ile329Arg)
c.1367T>G (p.Ile456Arg)
2g.48688175A>GCA346745775GTF2A1L,LHCGR,STON1-GTF2A1Lc.1622T>C (p.Ile541Thr)
c.948-36T>C (n.948-36T>C)
c.3441+16495A>G (n.3441+16495A>G)
c.*366T>C (n.*366T>C)
c.1541T>C (p.Ile514Thr)
c.276+16495A>G (n.276+16495A>G)
c.*220+6049T>C (n.*220+6049T>C)
c.665T>C (p.Ile222Thr)
c.692T>C (p.Ile231Thr)
c.1547T>C (p.Ile516Thr)
c.1361T>C (p.Ile454Thr)
c.1280T>C (p.Ile427Thr)
c.986T>C (p.Ile329Thr)
c.1367T>C (p.Ile456Thr)
2g.48688175A>TCA346745772GTF2A1L,LHCGR,STON1-GTF2A1Lc.1622T>A (p.Ile541Lys)
c.948-36T>A (n.948-36T>A)
c.3441+16495A>T (n.3441+16495A>T)
c.*366T>A (n.*366T>A)
c.1541T>A (p.Ile514Lys)
c.276+16495A>T (n.276+16495A>T)
c.*220+6049T>A (n.*220+6049T>A)
c.665T>A (p.Ile222Lys)
c.692T>A (p.Ile231Lys)
c.1547T>A (p.Ile516Lys)
c.1361T>A (p.Ile454Lys)
c.1280T>A (p.Ile427Lys)
c.986T>A (p.Ile329Lys)
c.1367T>A (p.Ile456Lys)
 COSMIC
2g.48688176T>ACA346745778GTF2A1L,LHCGR,STON1-GTF2A1Lc.1621A>T (p.Ile541Leu)
c.948-37A>T (n.948-37A>T)
c.3441+16496T>A (n.3441+16496T>A)
c.*365A>T (n.*365A>T)
c.1540A>T (p.Ile514Leu)
c.276+16496T>A (n.276+16496T>A)
c.*220+6048A>T (n.*220+6048A>T)
c.664A>T (p.Ile222Leu)
c.691A>T (p.Ile231Leu)
c.1546A>T (p.Ile516Leu)
c.1360A>T (p.Ile454Leu)
c.1279A>T (p.Ile427Leu)
c.985A>T (p.Ile329Leu)
c.1366A>T (p.Ile456Leu)
2g.48688176T>CCA346745783GTF2A1L,LHCGR,STON1-GTF2A1Lc.1621A>G (p.Ile541Val)
c.948-37A>G (n.948-37A>G)
c.3441+16496T>C (n.3441+16496T>C)
c.*365A>G (n.*365A>G)
c.1540A>G (p.Ile514Val)
c.276+16496T>C (n.276+16496T>C)
c.*220+6048A>G (n.*220+6048A>G)
c.664A>G (p.Ile222Val)
c.691A>G (p.Ile231Val)
c.1546A>G (p.Ile516Val)
c.1360A>G (p.Ile454Val)
c.1279A>G (p.Ile427Val)
c.985A>G (p.Ile329Val)
c.1366A>G (p.Ile456Val)
2g.48688176T>GCA346745780GTF2A1L,LHCGR,STON1-GTF2A1Lc.1621A>C (p.Ile541Leu)
c.948-37A>C (n.948-37A>C)
c.3441+16496T>G (n.3441+16496T>G)
c.*365A>C (n.*365A>C)
c.1540A>C (p.Ile514Leu)
c.276+16496T>G (n.276+16496T>G)
c.*220+6048A>C (n.*220+6048A>C)
c.664A>C (p.Ile222Leu)
c.691A>C (p.Ile231Leu)
c.1546A>C (p.Ile516Leu)
c.1360A>C (p.Ile454Leu)
c.1279A>C (p.Ile427Leu)
c.985A>C (p.Ile329Leu)
c.1366A>C (p.Ile456Leu)
 gnomAD v4
2g.48688176_48688179delinsTGAACA1248601020GTF2A1L,LHCGR,STON1-GTF2A1Lc.1618_1621delinsTTCA (p.Phe540=)
c.948-40_948-37delinsTTCA (n.948-40_948-37delinsTTCA)
c.3441+16496_3441+16499delinsTGAA (n.3441+16496_3441+16499delinsTGAA)
c.*362_*365delinsTTCA (n.*362_*365delinsTTCA)
c.1537_1540delinsTTCA (p.Phe513=)
c.276+16496_276+16499delinsTGAA (n.276+16496_276+16499delinsTGAA)
c.*220+6045_*220+6048delinsTTCA (n.*220+6045_*220+6048delinsTTCA)
c.661_664delinsTTCA (p.Phe221=)
c.688_691delinsTTCA (p.Phe230=)
c.1543_1546delinsTTCA (p.Phe515=)
c.1357_1360delinsTTCA (p.Phe453=)
c.1276_1279delinsTTCA (p.Phe426=)
c.982_985delinsTTCA (p.Phe328=)
c.1363_1366delinsTTCA (p.Phe455=)

Number of alleles fetched