Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688073A=CA1248600976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T= (p.Ile575=)
c.*36T= (n.*36T=)
c.3441+16393A= (n.3441+16393A=)
c.*468T= (n.*468T=)
c.1643T= (p.Ile548=)
c.276+16393A= (n.276+16393A=)
c.*220+6151T= (n.*220+6151T=)
c.767T= (p.Ile256=)
c.794T= (p.Ile265=)
c.1649T= (p.Ile550=)
c.1463T= (p.Ile488=)
c.1382T= (p.Ile461=)
c.1088T= (p.Ile363=)
c.1469T= (p.Ile490=)
2g.48688073A>CCA346744967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T>G (p.Ile575Ser)
c.*36T>G (n.*36T>G)
c.3441+16393A>C (n.3441+16393A>C)
c.*468T>G (n.*468T>G)
c.1643T>G (p.Ile548Ser)
c.276+16393A>C (n.276+16393A>C)
c.*220+6151T>G (n.*220+6151T>G)
c.767T>G (p.Ile256Ser)
c.794T>G (p.Ile265Ser)
c.1649T>G (p.Ile550Ser)
c.1463T>G (p.Ile488Ser)
c.1382T>G (p.Ile461Ser)
c.1088T>G (p.Ile363Ser)
c.1469T>G (p.Ile490Ser)
2g.48688073A>GCA1652999GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T>C (p.Ile575Thr)
c.*36T>C (n.*36T>C)
c.3441+16393A>G (n.3441+16393A>G)
c.*468T>C (n.*468T>C)
c.1643T>C (p.Ile548Thr)
c.276+16393A>G (n.276+16393A>G)
c.*220+6151T>C (n.*220+6151T>C)
c.767T>C (p.Ile256Thr)
c.794T>C (p.Ile265Thr)
c.1649T>C (p.Ile550Thr)
c.1463T>C (p.Ile488Thr)
c.1382T>C (p.Ile461Thr)
c.1088T>C (p.Ile363Thr)
c.1469T>C (p.Ile490Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688073A>TCA346744968GTF2A1L,LHCGR,STON1-GTF2A1Lc.1724T>A (p.Ile575Asn)
c.*36T>A (n.*36T>A)
c.3441+16393A>T (n.3441+16393A>T)
c.*468T>A (n.*468T>A)
c.1643T>A (p.Ile548Asn)
c.276+16393A>T (n.276+16393A>T)
c.*220+6151T>A (n.*220+6151T>A)
c.767T>A (p.Ile256Asn)
c.794T>A (p.Ile265Asn)
c.1649T>A (p.Ile550Asn)
c.1463T>A (p.Ile488Asn)
c.1382T>A (p.Ile461Asn)
c.1088T>A (p.Ile363Asn)
c.1469T>A (p.Ile490Asn)
2g.48688074T>ACA346744975GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A>T (p.Ile575Phe)
c.*35A>T (n.*35A>T)
c.3441+16394T>A (n.3441+16394T>A)
c.*467A>T (n.*467A>T)
c.1642A>T (p.Ile548Phe)
c.276+16394T>A (n.276+16394T>A)
c.*220+6150A>T (n.*220+6150A>T)
c.766A>T (p.Ile256Phe)
c.793A>T (p.Ile265Phe)
c.1648A>T (p.Ile550Phe)
c.1462A>T (p.Ile488Phe)
c.1381A>T (p.Ile461Phe)
c.1087A>T (p.Ile363Phe)
c.1468A>T (p.Ile490Phe)
2g.48688074T>CCA1653000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A>G (p.Ile575Val)
c.*35A>G (n.*35A>G)
c.3441+16394T>C (n.3441+16394T>C)
c.*467A>G (n.*467A>G)
c.1642A>G (p.Ile548Val)
c.276+16394T>C (n.276+16394T>C)
c.*220+6150A>G (n.*220+6150A>G)
c.766A>G (p.Ile256Val)
c.793A>G (p.Ile265Val)
c.1648A>G (p.Ile550Val)
c.1462A>G (p.Ile488Val)
c.1381A>G (p.Ile461Val)
c.1087A>G (p.Ile363Val)
c.1468A>G (p.Ile490Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688074T>GCA346744972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A>C (p.Ile575Leu)
c.*35A>C (n.*35A>C)
c.3441+16394T>G (n.3441+16394T>G)
c.*467A>C (n.*467A>C)
c.1642A>C (p.Ile548Leu)
c.276+16394T>G (n.276+16394T>G)
c.*220+6150A>C (n.*220+6150A>C)
c.766A>C (p.Ile256Leu)
c.793A>C (p.Ile265Leu)
c.1648A>C (p.Ile550Leu)
c.1462A>C (p.Ile488Leu)
c.1381A>C (p.Ile461Leu)
c.1087A>C (p.Ile363Leu)
c.1468A>C (p.Ile490Leu)
 ClinVar dbSNP
2g.48688074T=CA1248600977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1723A= (p.Ile575=)
c.*35A= (n.*35A=)
c.3441+16394T= (n.3441+16394T=)
c.*467A= (n.*467A=)
c.1642A= (p.Ile548=)
c.276+16394T= (n.276+16394T=)
c.*220+6150A= (n.*220+6150A=)
c.766A= (p.Ile256=)
c.793A= (p.Ile265=)
c.1648A= (p.Ile550=)
c.1462A= (p.Ile488=)
c.1381A= (p.Ile461=)
c.1087A= (p.Ile363=)
c.1468A= (p.Ile490=)
2g.48688075G>ACA426124936GTF2A1L,LHCGR,STON1-GTF2A1Lc.1722C>T (p.Leu574=)
c.*34C>T (n.*34C>T)
c.3441+16395G>A (n.3441+16395G>A)
c.*466C>T (n.*466C>T)
c.1641C>T (p.Leu547=)
c.276+16395G>A (n.276+16395G>A)
c.*220+6149C>T (n.*220+6149C>T)
c.765C>T (p.Leu255=)
c.792C>T (p.Leu264=)
c.1647C>T (p.Leu549=)
c.1461C>T (p.Leu487=)
c.1380C>T (p.Leu460=)
c.1086C>T (p.Leu362=)
c.1467C>T (p.Leu489=)
2g.48688075G>CCA426124937GTF2A1L,LHCGR,STON1-GTF2A1Lc.1722C>G (p.Leu574=)
c.*34C>G (n.*34C>G)
c.3441+16395G>C (n.3441+16395G>C)
c.*466C>G (n.*466C>G)
c.1641C>G (p.Leu547=)
c.276+16395G>C (n.276+16395G>C)
c.*220+6149C>G (n.*220+6149C>G)
c.765C>G (p.Leu255=)
c.792C>G (p.Leu264=)
c.1647C>G (p.Leu549=)
c.1461C>G (p.Leu487=)
c.1380C>G (p.Leu460=)
c.1086C>G (p.Leu362=)
c.1467C>G (p.Leu489=)
2g.48688075G>TCA426124938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1722C>A (p.Leu574=)
c.*34C>A (n.*34C>A)
c.3441+16395G>T (n.3441+16395G>T)
c.*466C>A (n.*466C>A)
c.1641C>A (p.Leu547=)
c.276+16395G>T (n.276+16395G>T)
c.*220+6149C>A (n.*220+6149C>A)
c.765C>A (p.Leu255=)
c.792C>A (p.Leu264=)
c.1647C>A (p.Leu549=)
c.1461C>A (p.Leu487=)
c.1380C>A (p.Leu460=)
c.1086C>A (p.Leu362=)
c.1467C>A (p.Leu489=)
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)

Number of alleles fetched