Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688556_48688600dupCA1248601185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1199_1243dup (p.Leu414_Ile415insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.948-459_948-415dup (n.948-459_948-415dup)
c.3441+16876_3441+16920dup (n.3441+16876_3441+16920dup)
c.948-15_977dup
c.1118_1162dup (p.Leu387_Ile388insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.276+16876_276+16920dup (n.276+16876_276+16920dup)
c.*220+5626_*220+5670dup (n.*220+5626_*220+5670dup)
c.242_286dup (p.Leu95_Ile96insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.269_313dup (p.Leu104_Ile105insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.1124_1168dup (p.Leu389_Ile390insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.938_982dup (p.Leu327_Ile328insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.857_901dup (p.Leu300_Ile301insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.563_607dup (p.Leu202_Ile203insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.944_988dup (p.Leu329_Ile330insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
 dbSNP
2g.48688573C>ACA346748624GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G>T (p.Met408Ile)
c.948-434G>T (n.948-434G>T)
c.3441+16893C>A (n.3441+16893C>A)
c.958G>T (p.Gly320Trp)
c.1143G>T (p.Met381Ile)
c.276+16893C>A (n.276+16893C>A)
c.*220+5651G>T (n.*220+5651G>T)
c.267G>T (p.Met89Ile)
c.294G>T (p.Met98Ile)
c.1149G>T (p.Met383Ile)
c.963G>T (p.Met321Ile)
c.882G>T (p.Met294Ile)
c.588G>T (p.Met196Ile)
c.969G>T (p.Met323Ile)
2g.48688573C=CA1248601191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G= (p.Met408=)
c.948-434G= (n.948-434G=)
c.3441+16893C= (n.3441+16893C=)
c.958G= (p.Gly320=)
c.1143G= (p.Met381=)
c.276+16893C= (n.276+16893C=)
c.*220+5651G= (n.*220+5651G=)
c.267G= (p.Met89=)
c.294G= (p.Met98=)
c.1149G= (p.Met383=)
c.963G= (p.Met321=)
c.882G= (p.Met294=)
c.588G= (p.Met196=)
c.969G= (p.Met323=)
2g.48688573C>GCA346748626GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G>C (p.Met408Ile)
c.948-434G>C (n.948-434G>C)
c.3441+16893C>G (n.3441+16893C>G)
c.958G>C (p.Gly320Arg)
c.1143G>C (p.Met381Ile)
c.276+16893C>G (n.276+16893C>G)
c.*220+5651G>C (n.*220+5651G>C)
c.267G>C (p.Met89Ile)
c.294G>C (p.Met98Ile)
c.1149G>C (p.Met383Ile)
c.963G>C (p.Met321Ile)
c.882G>C (p.Met294Ile)
c.588G>C (p.Met196Ile)
c.969G>C (p.Met323Ile)
2g.48688573C>TCA1653062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G>A (p.Met408Ile)
c.948-434G>A (n.948-434G>A)
c.3441+16893C>T (n.3441+16893C>T)
c.958G>A (p.Gly320Arg)
c.1143G>A (p.Met381Ile)
c.276+16893C>T (n.276+16893C>T)
c.*220+5651G>A (n.*220+5651G>A)
c.267G>A (p.Met89Ile)
c.294G>A (p.Met98Ile)
c.1149G>A (p.Met383Ile)
c.963G>A (p.Met321Ile)
c.882G>A (p.Met294Ile)
c.588G>A (p.Met196Ile)
c.969G>A (p.Met323Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688574A=CA1248601192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T= (p.Met408=)
c.948-435T= (n.948-435T=)
c.3441+16894A= (n.3441+16894A=)
c.957T= (p.His319=)
c.1142T= (p.Met381=)
c.276+16894A= (n.276+16894A=)
c.*220+5650T= (n.*220+5650T=)
c.266T= (p.Met89=)
c.293T= (p.Met98=)
c.1148T= (p.Met383=)
c.962T= (p.Met321=)
c.881T= (p.Met294=)
c.587T= (p.Met196=)
c.968T= (p.Met323=)
2g.48688574A>CCA346748628GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T>G (p.Met408Arg)
c.948-435T>G (n.948-435T>G)
c.3441+16894A>C (n.3441+16894A>C)
c.957T>G (p.His319Gln)
c.1142T>G (p.Met381Arg)
c.276+16894A>C (n.276+16894A>C)
c.*220+5650T>G (n.*220+5650T>G)
c.266T>G (p.Met89Arg)
c.293T>G (p.Met98Arg)
c.1148T>G (p.Met383Arg)
c.962T>G (p.Met321Arg)
c.881T>G (p.Met294Arg)
c.587T>G (p.Met196Arg)
c.968T>G (p.Met323Arg)
2g.48688574A>GCA1653063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T>C (p.Met408Thr)
c.948-435T>C (n.948-435T>C)
c.3441+16894A>G (n.3441+16894A>G)
c.957T>C (p.His319=)
c.1142T>C (p.Met381Thr)
c.276+16894A>G (n.276+16894A>G)
c.*220+5650T>C (n.*220+5650T>C)
c.266T>C (p.Met89Thr)
c.293T>C (p.Met98Thr)
c.1148T>C (p.Met383Thr)
c.962T>C (p.Met321Thr)
c.881T>C (p.Met294Thr)
c.587T>C (p.Met196Thr)
c.968T>C (p.Met323Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688574A>TCA346748632GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T>A (p.Met408Lys)
c.948-435T>A (n.948-435T>A)
c.3441+16894A>T (n.3441+16894A>T)
c.957T>A (p.His319Gln)
c.1142T>A (p.Met381Lys)
c.276+16894A>T (n.276+16894A>T)
c.*220+5650T>A (n.*220+5650T>A)
c.266T>A (p.Met89Lys)
c.293T>A (p.Met98Lys)
c.1148T>A (p.Met383Lys)
c.962T>A (p.Met321Lys)
c.881T>A (p.Met294Lys)
c.587T>A (p.Met196Lys)
c.968T>A (p.Met323Lys)
2g.48688575T>ACA346748634GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A>T (p.Met408Leu)
c.948-436A>T (n.948-436A>T)
c.3441+16895T>A (n.3441+16895T>A)
c.956A>T (p.His319Leu)
c.1141A>T (p.Met381Leu)
c.276+16895T>A (n.276+16895T>A)
c.*220+5649A>T (n.*220+5649A>T)
c.265A>T (p.Met89Leu)
c.292A>T (p.Met98Leu)
c.1147A>T (p.Met383Leu)
c.961A>T (p.Met321Leu)
c.880A>T (p.Met294Leu)
c.586A>T (p.Met196Leu)
c.967A>T (p.Met323Leu)
2g.48688575T>CCA1653064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A>G (p.Met408Val)
c.948-436A>G (n.948-436A>G)
c.3441+16895T>C (n.3441+16895T>C)
c.956A>G (p.His319Arg)
c.1141A>G (p.Met381Val)
c.276+16895T>C (n.276+16895T>C)
c.*220+5649A>G (n.*220+5649A>G)
c.265A>G (p.Met89Val)
c.292A>G (p.Met98Val)
c.1147A>G (p.Met383Val)
c.961A>G (p.Met321Val)
c.880A>G (p.Met294Val)
c.586A>G (p.Met196Val)
c.967A>G (p.Met323Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688575T>GCA346748635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A>C (p.Met408Leu)
c.948-436A>C (n.948-436A>C)
c.3441+16895T>G (n.3441+16895T>G)
c.956A>C (p.His319Pro)
c.1141A>C (p.Met381Leu)
c.276+16895T>G (n.276+16895T>G)
c.*220+5649A>C (n.*220+5649A>C)
c.265A>C (p.Met89Leu)
c.292A>C (p.Met98Leu)
c.1147A>C (p.Met383Leu)
c.961A>C (p.Met321Leu)
c.880A>C (p.Met294Leu)
c.586A>C (p.Met196Leu)
c.967A>C (p.Met323Leu)
2g.48688575T=CA1248601193GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A= (p.Met408=)
c.948-436A= (n.948-436A=)
c.3441+16895T= (n.3441+16895T=)
c.956A= (p.His319=)
c.1141A= (p.Met381=)
c.276+16895T= (n.276+16895T=)
c.*220+5649A= (n.*220+5649A=)
c.265A= (p.Met89=)
c.292A= (p.Met98=)
c.1147A= (p.Met383=)
c.961A= (p.Met321=)
c.880A= (p.Met294=)
c.586A= (p.Met196=)
c.967A= (p.Met323=)
2g.48688576G>ACA346748636GTF2A1L,LHCGR,STON1-GTF2A1Lc.1221C>T (p.Cys407=)
c.948-437C>T (n.948-437C>T)
c.3441+16896G>A (n.3441+16896G>A)
c.955C>T (p.His319Tyr)
c.1140C>T (p.Cys380=)
c.276+16896G>A (n.276+16896G>A)
c.*220+5648C>T (n.*220+5648C>T)
c.264C>T (p.Cys88=)
c.291C>T (p.Cys97=)
c.1146C>T (p.Cys382=)
c.960C>T (p.Cys320=)
c.879C>T (p.Cys293=)
c.585C>T (p.Cys195=)
c.966C>T (p.Cys322=)
 gnomAD v4
2g.48688576G>CCA346748637GTF2A1L,LHCGR,STON1-GTF2A1Lc.1221C>G (p.Cys407Trp)
c.948-437C>G (n.948-437C>G)
c.3441+16896G>C (n.3441+16896G>C)
c.955C>G (p.His319Asp)
c.1140C>G (p.Cys380Trp)
c.276+16896G>C (n.276+16896G>C)
c.*220+5648C>G (n.*220+5648C>G)
c.264C>G (p.Cys88Trp)
c.291C>G (p.Cys97Trp)
c.1146C>G (p.Cys382Trp)
c.960C>G (p.Cys320Trp)
c.879C>G (p.Cys293Trp)
c.585C>G (p.Cys195Trp)
c.966C>G (p.Cys322Trp)
 gnomAD v4
2g.48688576G>TCA346748640GTF2A1L,LHCGR,STON1-GTF2A1Lc.1221C>A (p.Cys407Ter)
c.948-437C>A (n.948-437C>A)
c.3441+16896G>T (n.3441+16896G>T)
c.955C>A (p.His319Asn)
c.1140C>A (p.Cys380Ter)
c.276+16896G>T (n.276+16896G>T)
c.*220+5648C>A (n.*220+5648C>A)
c.264C>A (p.Cys88Ter)
c.291C>A (p.Cys97Ter)
c.1146C>A (p.Cys382Ter)
c.960C>A (p.Cys320Ter)
c.879C>A (p.Cys293Ter)
c.585C>A (p.Cys195Ter)
c.966C>A (p.Cys322Ter)
2g.48688577C>ACA346748646GTF2A1L,LHCGR,STON1-GTF2A1Lc.1220G>T (p.Cys407Phe)
c.948-438G>T (n.948-438G>T)
c.3441+16897C>A (n.3441+16897C>A)
c.954G>T (p.Leu318Phe)
c.1139G>T (p.Cys380Phe)
c.276+16897C>A (n.276+16897C>A)
c.*220+5647G>T (n.*220+5647G>T)
c.263G>T (p.Cys88Phe)
c.290G>T (p.Cys97Phe)
c.1145G>T (p.Cys382Phe)
c.959G>T (p.Cys320Phe)
c.878G>T (p.Cys293Phe)
c.584G>T (p.Cys195Phe)
c.965G>T (p.Cys322Phe)
2g.48688577C>GCA346748642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1220G>C (p.Cys407Ser)
c.948-438G>C (n.948-438G>C)
c.3441+16897C>G (n.3441+16897C>G)
c.954G>C (p.Leu318Phe)
c.1139G>C (p.Cys380Ser)
c.276+16897C>G (n.276+16897C>G)
c.*220+5647G>C (n.*220+5647G>C)
c.263G>C (p.Cys88Ser)
c.290G>C (p.Cys97Ser)
c.1145G>C (p.Cys382Ser)
c.959G>C (p.Cys320Ser)
c.878G>C (p.Cys293Ser)
c.584G>C (p.Cys195Ser)
c.965G>C (p.Cys322Ser)
2g.48688577C>TCA346748644GTF2A1L,LHCGR,STON1-GTF2A1Lc.1220G>A (p.Cys407Tyr)
c.948-438G>A (n.948-438G>A)
c.3441+16897C>T (n.3441+16897C>T)
c.954G>A (p.Leu318=)
c.1139G>A (p.Cys380Tyr)
c.276+16897C>T (n.276+16897C>T)
c.*220+5647G>A (n.*220+5647G>A)
c.263G>A (p.Cys88Tyr)
c.290G>A (p.Cys97Tyr)
c.1145G>A (p.Cys382Tyr)
c.959G>A (p.Cys320Tyr)
c.878G>A (p.Cys293Tyr)
c.584G>A (p.Cys195Tyr)
c.965G>A (p.Cys322Tyr)
2g.48688578A>CCA346748648GTF2A1L,LHCGR,STON1-GTF2A1Lc.1219T>G (p.Cys407Gly)
c.948-439T>G (n.948-439T>G)
c.3441+16898A>C (n.3441+16898A>C)
c.953T>G (p.Leu318Trp)
c.1138T>G (p.Cys380Gly)
c.276+16898A>C (n.276+16898A>C)
c.*220+5646T>G (n.*220+5646T>G)
c.262T>G (p.Cys88Gly)
c.289T>G (p.Cys97Gly)
c.1144T>G (p.Cys382Gly)
c.958T>G (p.Cys320Gly)
c.877T>G (p.Cys293Gly)
c.583T>G (p.Cys195Gly)
c.964T>G (p.Cys322Gly)
2g.48688578A>GCA346748649GTF2A1L,LHCGR,STON1-GTF2A1Lc.1219T>C (p.Cys407Arg)
c.948-439T>C (n.948-439T>C)
c.3441+16898A>G (n.3441+16898A>G)
c.953T>C (p.Leu318Ser)
c.1138T>C (p.Cys380Arg)
c.276+16898A>G (n.276+16898A>G)
c.*220+5646T>C (n.*220+5646T>C)
c.262T>C (p.Cys88Arg)
c.289T>C (p.Cys97Arg)
c.1144T>C (p.Cys382Arg)
c.958T>C (p.Cys320Arg)
c.877T>C (p.Cys293Arg)
c.583T>C (p.Cys195Arg)
c.964T>C (p.Cys322Arg)
2g.48688578A>TCA346748650GTF2A1L,LHCGR,STON1-GTF2A1Lc.1219T>A (p.Cys407Ser)
c.948-439T>A (n.948-439T>A)
c.3441+16898A>T (n.3441+16898A>T)
c.953T>A (p.Leu318Ter)
c.1138T>A (p.Cys380Ser)
c.276+16898A>T (n.276+16898A>T)
c.*220+5646T>A (n.*220+5646T>A)
c.262T>A (p.Cys88Ser)
c.289T>A (p.Cys97Ser)
c.1144T>A (p.Cys382Ser)
c.958T>A (p.Cys320Ser)
c.877T>A (p.Cys293Ser)
c.583T>A (p.Cys195Ser)
c.964T>A (p.Cys322Ser)
2g.48688579A=CA1248601194GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T= (p.Phe406=)
c.948-440T= (n.948-440T=)
c.3441+16899A= (n.3441+16899A=)
c.952T= (p.Leu318=)
c.1137T= (p.Phe379=)
c.276+16899A= (n.276+16899A=)
c.*220+5645T= (n.*220+5645T=)
c.261T= (p.Phe87=)
c.288T= (p.Phe96=)
c.1143T= (p.Phe381=)
c.957T= (p.Phe319=)
c.876T= (p.Phe292=)
c.582T= (p.Phe194=)
c.963T= (p.Phe321=)
2g.48688579A>CCA346748651GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T>G (p.Phe406Leu)
c.948-440T>G (n.948-440T>G)
c.3441+16899A>C (n.3441+16899A>C)
c.952T>G (p.Leu318Val)
c.1137T>G (p.Phe379Leu)
c.276+16899A>C (n.276+16899A>C)
c.*220+5645T>G (n.*220+5645T>G)
c.261T>G (p.Phe87Leu)
c.288T>G (p.Phe96Leu)
c.1143T>G (p.Phe381Leu)
c.957T>G (p.Phe319Leu)
c.876T>G (p.Phe292Leu)
c.582T>G (p.Phe194Leu)
c.963T>G (p.Phe321Leu)
2g.48688579A>GCA426124558GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T>C (p.Phe406=)
c.948-440T>C (n.948-440T>C)
c.3441+16899A>G (n.3441+16899A>G)
c.952T>C (p.Leu318=)
c.1137T>C (p.Phe379=)
c.276+16899A>G (n.276+16899A>G)
c.*220+5645T>C (n.*220+5645T>C)
c.261T>C (p.Phe87=)
c.288T>C (p.Phe96=)
c.1143T>C (p.Phe381=)
c.957T>C (p.Phe319=)
c.876T>C (p.Phe292=)
c.582T>C (p.Phe194=)
c.963T>C (p.Phe321=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688579A>TCA346748653GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T>A (p.Phe406Leu)
c.948-440T>A (n.948-440T>A)
c.3441+16899A>T (n.3441+16899A>T)
c.952T>A (p.Leu318Met)
c.1137T>A (p.Phe379Leu)
c.276+16899A>T (n.276+16899A>T)
c.*220+5645T>A (n.*220+5645T>A)
c.261T>A (p.Phe87Leu)
c.288T>A (p.Phe96Leu)
c.1143T>A (p.Phe381Leu)
c.957T>A (p.Phe319Leu)
c.876T>A (p.Phe292Leu)
c.582T>A (p.Phe194Leu)
c.963T>A (p.Phe321Leu)
2g.48688580A=CA1248601195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T= (p.Phe406=)
c.948-441T= (n.948-441T=)
c.3441+16900A= (n.3441+16900A=)
c.951T= (p.Leu317=)
c.1136T= (p.Phe379=)
c.276+16900A= (n.276+16900A=)
c.*220+5644T= (n.*220+5644T=)
c.260T= (p.Phe87=)
c.287T= (p.Phe96=)
c.1142T= (p.Phe381=)
c.956T= (p.Phe319=)
c.875T= (p.Phe292=)
c.581T= (p.Phe194=)
c.962T= (p.Phe321=)
2g.48688580A>CCA1653065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T>G (p.Phe406Cys)
c.948-441T>G (n.948-441T>G)
c.3441+16900A>C (n.3441+16900A>C)
c.951T>G (p.Leu317=)
c.1136T>G (p.Phe379Cys)
c.276+16900A>C (n.276+16900A>C)
c.*220+5644T>G (n.*220+5644T>G)
c.260T>G (p.Phe87Cys)
c.287T>G (p.Phe96Cys)
c.1142T>G (p.Phe381Cys)
c.956T>G (p.Phe319Cys)
c.875T>G (p.Phe292Cys)
c.581T>G (p.Phe194Cys)
c.962T>G (p.Phe321Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688580A>GCA346748655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T>C (p.Phe406Ser)
c.948-441T>C (n.948-441T>C)
c.3441+16900A>G (n.3441+16900A>G)
c.951T>C (p.Leu317=)
c.1136T>C (p.Phe379Ser)
c.276+16900A>G (n.276+16900A>G)
c.*220+5644T>C (n.*220+5644T>C)
c.260T>C (p.Phe87Ser)
c.287T>C (p.Phe96Ser)
c.1142T>C (p.Phe381Ser)
c.956T>C (p.Phe319Ser)
c.875T>C (p.Phe292Ser)
c.581T>C (p.Phe194Ser)
c.962T>C (p.Phe321Ser)
2g.48688580A>TCA346748658GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T>A (p.Phe406Tyr)
c.948-441T>A (n.948-441T>A)
c.3441+16900A>T (n.3441+16900A>T)
c.951T>A (p.Leu317=)
c.1136T>A (p.Phe379Tyr)
c.276+16900A>T (n.276+16900A>T)
c.*220+5644T>A (n.*220+5644T>A)
c.260T>A (p.Phe87Tyr)
c.287T>A (p.Phe96Tyr)
c.1142T>A (p.Phe381Tyr)
c.956T>A (p.Phe319Tyr)
c.875T>A (p.Phe292Tyr)
c.581T>A (p.Phe194Tyr)
c.962T>A (p.Phe321Tyr)
2g.48688581A>CCA346748663GTF2A1L,LHCGR,STON1-GTF2A1Lc.1216T>G (p.Phe406Val)
c.948-442T>G (n.948-442T>G)
c.3441+16901A>C (n.3441+16901A>C)
c.950T>G (p.Leu317Arg)
c.1135T>G (p.Phe379Val)
c.276+16901A>C (n.276+16901A>C)
c.*220+5643T>G (n.*220+5643T>G)
c.259T>G (p.Phe87Val)
c.286T>G (p.Phe96Val)
c.1141T>G (p.Phe381Val)
c.955T>G (p.Phe319Val)
c.874T>G (p.Phe292Val)
c.580T>G (p.Phe194Val)
c.961T>G (p.Phe321Val)
2g.48688581A>GCA346748665GTF2A1L,LHCGR,STON1-GTF2A1Lc.1216T>C (p.Phe406Leu)
c.948-442T>C (n.948-442T>C)
c.3441+16901A>G (n.3441+16901A>G)
c.950T>C (p.Leu317Pro)
c.1135T>C (p.Phe379Leu)
c.276+16901A>G (n.276+16901A>G)
c.*220+5643T>C (n.*220+5643T>C)
c.259T>C (p.Phe87Leu)
c.286T>C (p.Phe96Leu)
c.1141T>C (p.Phe381Leu)
c.955T>C (p.Phe319Leu)
c.874T>C (p.Phe292Leu)
c.580T>C (p.Phe194Leu)
c.961T>C (p.Phe321Leu)
2g.48688581A>TCA346748668GTF2A1L,LHCGR,STON1-GTF2A1Lc.1216T>A (p.Phe406Ile)
c.948-442T>A (n.948-442T>A)
c.3441+16901A>T (n.3441+16901A>T)
c.950T>A (p.Leu317His)
c.1135T>A (p.Phe379Ile)
c.276+16901A>T (n.276+16901A>T)
c.*220+5643T>A (n.*220+5643T>A)
c.259T>A (p.Phe87Ile)
c.286T>A (p.Phe96Ile)
c.1141T>A (p.Phe381Ile)
c.955T>A (p.Phe319Ile)
c.874T>A (p.Phe292Ile)
c.580T>A (p.Phe194Ile)
c.961T>A (p.Phe321Ile)
2g.48688582G>ACA346748670GTF2A1L,LHCGR,STON1-GTF2A1Lc.1215C>T (p.Asp405=)
c.948-443C>T (n.948-443C>T)
c.3441+16902G>A (n.3441+16902G>A)
c.949C>T (p.Leu317Phe)
c.1134C>T (p.Asp378=)
c.276+16902G>A (n.276+16902G>A)
c.*220+5642C>T (n.*220+5642C>T)
c.258C>T (p.Asp86=)
c.285C>T (p.Asp95=)
c.1140C>T (p.Asp380=)
c.954C>T (p.Asp318=)
c.873C>T (p.Asp291=)
c.579C>T (p.Asp193=)
c.960C>T (p.Asp320=)
2g.48688582G>CCA346748673GTF2A1L,LHCGR,STON1-GTF2A1Lc.1215C>G (p.Asp405Glu)
c.948-443C>G (n.948-443C>G)
c.3441+16902G>C (n.3441+16902G>C)
c.949C>G (p.Leu317Val)
c.1134C>G (p.Asp378Glu)
c.276+16902G>C (n.276+16902G>C)
c.*220+5642C>G (n.*220+5642C>G)
c.258C>G (p.Asp86Glu)
c.285C>G (p.Asp95Glu)
c.1140C>G (p.Asp380Glu)
c.954C>G (p.Asp318Glu)
c.873C>G (p.Asp291Glu)
c.579C>G (p.Asp193Glu)
c.960C>G (p.Asp320Glu)
 gnomAD v4
2g.48688582G>TCA346748677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1215C>A (p.Asp405Glu)
c.948-443C>A (n.948-443C>A)
c.3441+16902G>T (n.3441+16902G>T)
c.949C>A (p.Leu317Ile)
c.1134C>A (p.Asp378Glu)
c.276+16902G>T (n.276+16902G>T)
c.*220+5642C>A (n.*220+5642C>A)
c.258C>A (p.Asp86Glu)
c.285C>A (p.Asp95Glu)
c.1140C>A (p.Asp380Glu)
c.954C>A (p.Asp318Glu)
c.873C>A (p.Asp291Glu)
c.579C>A (p.Asp193Glu)
c.960C>A (p.Asp320Glu)
2g.48688583T>ACA346748678GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A>T (p.Asp405Val)
c.948-444A>T (n.948-444A>T)
c.3441+16903T>A (n.3441+16903T>A)
c.948A>T (p.Leu316=)
c.1133A>T (p.Asp378Val)
c.276+16903T>A (n.276+16903T>A)
c.*220+5641A>T (n.*220+5641A>T)
c.257A>T (p.Asp86Val)
c.284A>T (p.Asp95Val)
c.1139A>T (p.Asp380Val)
c.953A>T (p.Asp318Val)
c.872A>T (p.Asp291Val)
c.578A>T (p.Asp193Val)
c.959A>T (p.Asp320Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688583T>CCA346748680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A>G (p.Asp405Gly)
c.948-444A>G (n.948-444A>G)
c.3441+16903T>C (n.3441+16903T>C)
c.948A>G (p.Leu316=)
c.1133A>G (p.Asp378Gly)
c.276+16903T>C (n.276+16903T>C)
c.*220+5641A>G (n.*220+5641A>G)
c.257A>G (p.Asp86Gly)
c.284A>G (p.Asp95Gly)
c.1139A>G (p.Asp380Gly)
c.953A>G (p.Asp318Gly)
c.872A>G (p.Asp291Gly)
c.578A>G (p.Asp193Gly)
c.959A>G (p.Asp320Gly)
 gnomAD v4
2g.48688583T>GCA346748681GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A>C (p.Asp405Ala)
c.948-444A>C (n.948-444A>C)
c.3441+16903T>G (n.3441+16903T>G)
c.948A>C (p.Leu316=)
c.1133A>C (p.Asp378Ala)
c.276+16903T>G (n.276+16903T>G)
c.*220+5641A>C (n.*220+5641A>C)
c.257A>C (p.Asp86Ala)
c.284A>C (p.Asp95Ala)
c.1139A>C (p.Asp380Ala)
c.953A>C (p.Asp318Ala)
c.872A>C (p.Asp291Ala)
c.578A>C (p.Asp193Ala)
c.959A>C (p.Asp320Ala)
2g.48688583T=CA1248601196GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A= (p.Asp405=)
c.948-444A= (n.948-444A=)
c.3441+16903T= (n.3441+16903T=)
c.948A= (p.Leu316=)
c.1133A= (p.Asp378=)
c.276+16903T= (n.276+16903T=)
c.*220+5641A= (n.*220+5641A=)
c.257A= (p.Asp86=)
c.284A= (p.Asp95=)
c.1139A= (p.Asp380=)
c.953A= (p.Asp318=)
c.872A= (p.Asp291=)
c.578A= (p.Asp193=)
c.959A= (p.Asp320=)
2g.48688584C>ACA346748682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1213G>T (p.Asp405Tyr)
c.948-445G>T (n.948-445G>T)
c.3441+16904C>A (n.3441+16904C>A)
c.948-1G>T (n.948-1G>T)
c.1132G>T (p.Asp378Tyr)
c.276+16904C>A (n.276+16904C>A)
c.*220+5640G>T (n.*220+5640G>T)
c.256G>T (p.Asp86Tyr)
c.283G>T (p.Asp95Tyr)
c.1138G>T (p.Asp380Tyr)
c.952G>T (p.Asp318Tyr)
c.871G>T (p.Asp291Tyr)
c.577G>T (p.Asp193Tyr)
c.958G>T (p.Asp320Tyr)
2g.48688584C>GCA346748683GTF2A1L,LHCGR,STON1-GTF2A1Lc.1213G>C (p.Asp405His)
c.948-445G>C (n.948-445G>C)
c.3441+16904C>G (n.3441+16904C>G)
c.948-1G>C (n.948-1G>C)
c.1132G>C (p.Asp378His)
c.276+16904C>G (n.276+16904C>G)
c.*220+5640G>C (n.*220+5640G>C)
c.256G>C (p.Asp86His)
c.283G>C (p.Asp95His)
c.1138G>C (p.Asp380His)
c.952G>C (p.Asp318His)
c.871G>C (p.Asp291His)
c.577G>C (p.Asp193His)
c.958G>C (p.Asp320His)
2g.48688584C>TCA346748684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1213G>A (p.Asp405Asn)
c.948-445G>A (n.948-445G>A)
c.3441+16904C>T (n.3441+16904C>T)
c.948-1G>A (n.948-1G>A)
c.1132G>A (p.Asp378Asn)
c.276+16904C>T (n.276+16904C>T)
c.*220+5640G>A (n.*220+5640G>A)
c.256G>A (p.Asp86Asn)
c.283G>A (p.Asp95Asn)
c.1138G>A (p.Asp380Asn)
c.952G>A (p.Asp318Asn)
c.871G>A (p.Asp291Asn)
c.577G>A (p.Asp193Asn)
c.958G>A (p.Asp320Asn)
 gnomAD v4 COSMIC
2g.48688585T>ACA346748686GTF2A1L,LHCGR,STON1-GTF2A1Lc.1212A>T (p.Ala404=)
c.948-446A>T (n.948-446A>T)
c.3441+16905T>A (n.3441+16905T>A)
c.948-2A>T (n.948-2A>T)
c.1131A>T (p.Ala377=)
c.276+16905T>A (n.276+16905T>A)
c.*220+5639A>T (n.*220+5639A>T)
c.255A>T (p.Ala85=)
c.282A>T (p.Ala94=)
c.1137A>T (p.Ala379=)
c.951A>T (p.Ala317=)
c.870A>T (p.Ala290=)
c.576A>T (p.Ala192=)
c.957A>T (p.Ala319=)
2g.48688585T>CCA346748690GTF2A1L,LHCGR,STON1-GTF2A1Lc.1212A>G (p.Ala404=)
c.948-446A>G (n.948-446A>G)
c.3441+16905T>C (n.3441+16905T>C)
c.948-2A>G (n.948-2A>G)
c.1131A>G (p.Ala377=)
c.276+16905T>C (n.276+16905T>C)
c.*220+5639A>G (n.*220+5639A>G)
c.255A>G (p.Ala85=)
c.282A>G (p.Ala94=)
c.1137A>G (p.Ala379=)
c.951A>G (p.Ala317=)
c.870A>G (p.Ala290=)
c.576A>G (p.Ala192=)
c.957A>G (p.Ala319=)
2g.48688585T>GCA346748688GTF2A1L,LHCGR,STON1-GTF2A1Lc.1212A>C (p.Ala404=)
c.948-446A>C (n.948-446A>C)
c.3441+16905T>G (n.3441+16905T>G)
c.948-2A>C (n.948-2A>C)
c.1131A>C (p.Ala377=)
c.276+16905T>G (n.276+16905T>G)
c.*220+5639A>C (n.*220+5639A>C)
c.255A>C (p.Ala85=)
c.282A>C (p.Ala94=)
c.1137A>C (p.Ala379=)
c.951A>C (p.Ala317=)
c.870A>C (p.Ala290=)
c.576A>C (p.Ala192=)
c.957A>C (p.Ala319=)
2g.48688586G>ACA346748693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1211C>T (p.Ala404Val)
c.948-447C>T (n.948-447C>T)
c.3441+16906G>A (n.3441+16906G>A)
c.948-3C>T (n.948-3C>T)
c.1130C>T (p.Ala377Val)
c.276+16906G>A (n.276+16906G>A)
c.*220+5638C>T (n.*220+5638C>T)
c.254C>T (p.Ala85Val)
c.281C>T (p.Ala94Val)
c.1136C>T (p.Ala379Val)
c.950C>T (p.Ala317Val)
c.869C>T (p.Ala290Val)
c.575C>T (p.Ala192Val)
c.956C>T (p.Ala319Val)
2g.48688586G>CCA346748696GTF2A1L,LHCGR,STON1-GTF2A1Lc.1211C>G (p.Ala404Gly)
c.948-447C>G (n.948-447C>G)
c.3441+16906G>C (n.3441+16906G>C)
c.948-3C>G (n.948-3C>G)
c.1130C>G (p.Ala377Gly)
c.276+16906G>C (n.276+16906G>C)
c.*220+5638C>G (n.*220+5638C>G)
c.254C>G (p.Ala85Gly)
c.281C>G (p.Ala94Gly)
c.1136C>G (p.Ala379Gly)
c.950C>G (p.Ala317Gly)
c.869C>G (p.Ala290Gly)
c.575C>G (p.Ala192Gly)
c.956C>G (p.Ala319Gly)
2g.48688586G>TCA346748698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1211C>A (p.Ala404Glu)
c.948-447C>A (n.948-447C>A)
c.3441+16906G>T (n.3441+16906G>T)
c.948-3C>A (n.948-3C>A)
c.1130C>A (p.Ala377Glu)
c.276+16906G>T (n.276+16906G>T)
c.*220+5638C>A (n.*220+5638C>A)
c.254C>A (p.Ala85Glu)
c.281C>A (p.Ala94Glu)
c.1136C>A (p.Ala379Glu)
c.950C>A (p.Ala317Glu)
c.869C>A (p.Ala290Glu)
c.575C>A (p.Ala192Glu)
c.956C>A (p.Ala319Glu)
2g.48688587C>ACA346748700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1210G>T (p.Ala404Ser)
c.948-448G>T (n.948-448G>T)
c.3441+16907C>A (n.3441+16907C>A)
c.948-4G>T (n.948-4G>T)
c.1129G>T (p.Ala377Ser)
c.276+16907C>A (n.276+16907C>A)
c.*220+5637G>T (n.*220+5637G>T)
c.253G>T (p.Ala85Ser)
c.280G>T (p.Ala94Ser)
c.1135G>T (p.Ala379Ser)
c.949G>T (p.Ala317Ser)
c.868G>T (p.Ala290Ser)
c.574G>T (p.Ala192Ser)
c.955G>T (p.Ala319Ser)
2g.48688587C>GCA346748703GTF2A1L,LHCGR,STON1-GTF2A1Lc.1210G>C (p.Ala404Pro)
c.948-448G>C (n.948-448G>C)
c.3441+16907C>G (n.3441+16907C>G)
c.948-4G>C (n.948-4G>C)
c.1129G>C (p.Ala377Pro)
c.276+16907C>G (n.276+16907C>G)
c.*220+5637G>C (n.*220+5637G>C)
c.253G>C (p.Ala85Pro)
c.280G>C (p.Ala94Pro)
c.1135G>C (p.Ala379Pro)
c.949G>C (p.Ala317Pro)
c.868G>C (p.Ala290Pro)
c.574G>C (p.Ala192Pro)
c.955G>C (p.Ala319Pro)
2g.48688587C>TCA346748706GTF2A1L,LHCGR,STON1-GTF2A1Lc.1210G>A (p.Ala404Thr)
c.948-448G>A (n.948-448G>A)
c.3441+16907C>T (n.3441+16907C>T)
c.948-4G>A (n.948-4G>A)
c.1129G>A (p.Ala377Thr)
c.276+16907C>T (n.276+16907C>T)
c.*220+5637G>A (n.*220+5637G>A)
c.253G>A (p.Ala85Thr)
c.280G>A (p.Ala94Thr)
c.1135G>A (p.Ala379Thr)
c.949G>A (p.Ala317Thr)
c.868G>A (p.Ala290Thr)
c.574G>A (p.Ala192Thr)
c.955G>A (p.Ala319Thr)
 gnomAD v4
2g.48688588A>CCA346748709GTF2A1L,LHCGR,STON1-GTF2A1Lc.1209T>G (p.Phe403Leu)
c.948-449T>G (n.948-449T>G)
c.3441+16908A>C (n.3441+16908A>C)
c.948-5T>G (n.948-5T>G)
c.1128T>G (p.Phe376Leu)
c.276+16908A>C (n.276+16908A>C)
c.*220+5636T>G (n.*220+5636T>G)
c.252T>G (p.Phe84Leu)
c.279T>G (p.Phe93Leu)
c.1134T>G (p.Phe378Leu)
c.948T>G (p.Phe316Leu)
c.867T>G (p.Phe289Leu)
c.573T>G (p.Phe191Leu)
c.954T>G (p.Phe318Leu)
2g.48688588A>GCA426124559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1209T>C (p.Phe403=)
c.948-449T>C (n.948-449T>C)
c.3441+16908A>G (n.3441+16908A>G)
c.948-5T>C (n.948-5T>C)
c.1128T>C (p.Phe376=)
c.276+16908A>G (n.276+16908A>G)
c.*220+5636T>C (n.*220+5636T>C)
c.252T>C (p.Phe84=)
c.279T>C (p.Phe93=)
c.1134T>C (p.Phe378=)
c.948T>C (p.Phe316=)
c.867T>C (p.Phe289=)
c.573T>C (p.Phe191=)
c.954T>C (p.Phe318=)
2g.48688588A>TCA346748710GTF2A1L,LHCGR,STON1-GTF2A1Lc.1209T>A (p.Phe403Leu)
c.948-449T>A (n.948-449T>A)
c.3441+16908A>T (n.3441+16908A>T)
c.948-5T>A (n.948-5T>A)
c.1128T>A (p.Phe376Leu)
c.276+16908A>T (n.276+16908A>T)
c.*220+5636T>A (n.*220+5636T>A)
c.252T>A (p.Phe84Leu)
c.279T>A (p.Phe93Leu)
c.1134T>A (p.Phe378Leu)
c.948T>A (p.Phe316Leu)
c.867T>A (p.Phe289Leu)
c.573T>A (p.Phe191Leu)
c.954T>A (p.Phe318Leu)
2g.48688589A>CCA346748713GTF2A1L,LHCGR,STON1-GTF2A1Lc.1208T>G (p.Phe403Cys)
c.948-450T>G (n.948-450T>G)
c.3441+16909A>C (n.3441+16909A>C)
c.948-6T>G (n.948-6T>G)
c.1127T>G (p.Phe376Cys)
c.276+16909A>C (n.276+16909A>C)
c.*220+5635T>G (n.*220+5635T>G)
c.251T>G (p.Phe84Cys)
c.278T>G (p.Phe93Cys)
c.1133T>G (p.Phe378Cys)
c.947T>G (p.Phe316Cys)
c.866T>G (p.Phe289Cys)
c.572T>G (p.Phe191Cys)
c.953T>G (p.Phe318Cys)
2g.48688589A>GCA346748715GTF2A1L,LHCGR,STON1-GTF2A1Lc.1208T>C (p.Phe403Ser)
c.948-450T>C (n.948-450T>C)
c.3441+16909A>G (n.3441+16909A>G)
c.948-6T>C (n.948-6T>C)
c.1127T>C (p.Phe376Ser)
c.276+16909A>G (n.276+16909A>G)
c.*220+5635T>C (n.*220+5635T>C)
c.251T>C (p.Phe84Ser)
c.278T>C (p.Phe93Ser)
c.1133T>C (p.Phe378Ser)
c.947T>C (p.Phe316Ser)
c.866T>C (p.Phe289Ser)
c.572T>C (p.Phe191Ser)
c.953T>C (p.Phe318Ser)
2g.48688589A>TCA346748718GTF2A1L,LHCGR,STON1-GTF2A1Lc.1208T>A (p.Phe403Tyr)
c.948-450T>A (n.948-450T>A)
c.3441+16909A>T (n.3441+16909A>T)
c.948-6T>A (n.948-6T>A)
c.1127T>A (p.Phe376Tyr)
c.276+16909A>T (n.276+16909A>T)
c.*220+5635T>A (n.*220+5635T>A)
c.251T>A (p.Phe84Tyr)
c.278T>A (p.Phe93Tyr)
c.1133T>A (p.Phe378Tyr)
c.947T>A (p.Phe316Tyr)
c.866T>A (p.Phe289Tyr)
c.572T>A (p.Phe191Tyr)
c.953T>A (p.Phe318Tyr)
2g.48688590A=CA1248601197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1207T= (p.Phe403=)
c.948-451T= (n.948-451T=)
c.3441+16910A= (n.3441+16910A=)
c.948-7T= (n.948-7T=)
c.1126T= (p.Phe376=)
c.276+16910A= (n.276+16910A=)
c.*220+5634T= (n.*220+5634T=)
c.250T= (p.Phe84=)
c.277T= (p.Phe93=)
c.1132T= (p.Phe378=)
c.946T= (p.Phe316=)
c.865T= (p.Phe289=)
c.571T= (p.Phe191=)
c.952T= (p.Phe318=)
2g.48688590A>CCA346748724GTF2A1L,LHCGR,STON1-GTF2A1Lc.1207T>G (p.Phe403Val)
c.948-451T>G (n.948-451T>G)
c.3441+16910A>C (n.3441+16910A>C)
c.948-7T>G (n.948-7T>G)
c.1126T>G (p.Phe376Val)
c.276+16910A>C (n.276+16910A>C)
c.*220+5634T>G (n.*220+5634T>G)
c.250T>G (p.Phe84Val)
c.277T>G (p.Phe93Val)
c.1132T>G (p.Phe378Val)
c.946T>G (p.Phe316Val)
c.865T>G (p.Phe289Val)
c.571T>G (p.Phe191Val)
c.952T>G (p.Phe318Val)
2g.48688590A>GCA346748723GTF2A1L,LHCGR,STON1-GTF2A1Lc.1207T>C (p.Phe403Leu)
c.948-451T>C (n.948-451T>C)
c.3441+16910A>G (n.3441+16910A>G)
c.948-7T>C (n.948-7T>C)
c.1126T>C (p.Phe376Leu)
c.276+16910A>G (n.276+16910A>G)
c.*220+5634T>C (n.*220+5634T>C)
c.250T>C (p.Phe84Leu)
c.277T>C (p.Phe93Leu)
c.1132T>C (p.Phe378Leu)
c.946T>C (p.Phe316Leu)
c.865T>C (p.Phe289Leu)
c.571T>C (p.Phe191Leu)
c.952T>C (p.Phe318Leu)
2g.48688590A>TCA346748720GTF2A1L,LHCGR,STON1-GTF2A1Lc.1207T>A (p.Phe403Ile)
c.948-451T>A (n.948-451T>A)
c.3441+16910A>T (n.3441+16910A>T)
c.948-7T>A (n.948-7T>A)
c.1126T>A (p.Phe376Ile)
c.276+16910A>T (n.276+16910A>T)
c.*220+5634T>A (n.*220+5634T>A)
c.250T>A (p.Phe84Ile)
c.277T>A (p.Phe93Ile)
c.1132T>A (p.Phe378Ile)
c.946T>A (p.Phe316Ile)
c.865T>A (p.Phe289Ile)
c.571T>A (p.Phe191Ile)
c.952T>A (p.Phe318Ile)
 dbSNP
2g.48688591G>ACA426124560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1206C>T (p.Ser402=)
c.948-452C>T (n.948-452C>T)
c.3441+16911G>A (n.3441+16911G>A)
c.948-8C>T (n.948-8C>T)
c.1125C>T (p.Ser375=)
c.276+16911G>A (n.276+16911G>A)
c.*220+5633C>T (n.*220+5633C>T)
c.249C>T (p.Ser83=)
c.276C>T (p.Ser92=)
c.1131C>T (p.Ser377=)
c.945C>T (p.Ser315=)
c.864C>T (p.Ser288=)
c.570C>T (p.Ser190=)
c.951C>T (p.Ser317=)
2g.48688591G>CCA426124561GTF2A1L,LHCGR,STON1-GTF2A1Lc.1206C>G (p.Ser402=)
c.948-452C>G (n.948-452C>G)
c.3441+16911G>C (n.3441+16911G>C)
c.948-8C>G (n.948-8C>G)
c.1125C>G (p.Ser375=)
c.276+16911G>C (n.276+16911G>C)
c.*220+5633C>G (n.*220+5633C>G)
c.249C>G (p.Ser83=)
c.276C>G (p.Ser92=)
c.1131C>G (p.Ser377=)
c.945C>G (p.Ser315=)
c.864C>G (p.Ser288=)
c.570C>G (p.Ser190=)
c.951C>G (p.Ser317=)
2g.48688591G>TCA426124562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1206C>A (p.Ser402=)
c.948-452C>A (n.948-452C>A)
c.3441+16911G>T (n.3441+16911G>T)
c.948-8C>A (n.948-8C>A)
c.1125C>A (p.Ser375=)
c.276+16911G>T (n.276+16911G>T)
c.*220+5633C>A (n.*220+5633C>A)
c.249C>A (p.Ser83=)
c.276C>A (p.Ser92=)
c.1131C>A (p.Ser377=)
c.945C>A (p.Ser315=)
c.864C>A (p.Ser288=)
c.570C>A (p.Ser190=)
c.951C>A (p.Ser317=)
2g.48688592G>ACA346748725GTF2A1L,LHCGR,STON1-GTF2A1Lc.1205C>T (p.Ser402Phe)
c.948-453C>T (n.948-453C>T)
c.3441+16912G>A (n.3441+16912G>A)
c.948-9C>T (n.948-9C>T)
c.1124C>T (p.Ser375Phe)
c.276+16912G>A (n.276+16912G>A)
c.*220+5632C>T (n.*220+5632C>T)
c.248C>T (p.Ser83Phe)
c.275C>T (p.Ser92Phe)
c.1130C>T (p.Ser377Phe)
c.944C>T (p.Ser315Phe)
c.863C>T (p.Ser288Phe)
c.569C>T (p.Ser190Phe)
c.950C>T (p.Ser317Phe)
 COSMIC
2g.48688592G>CCA346748726GTF2A1L,LHCGR,STON1-GTF2A1Lc.1205C>G (p.Ser402Cys)
c.948-453C>G (n.948-453C>G)
c.3441+16912G>C (n.3441+16912G>C)
c.948-9C>G (n.948-9C>G)
c.1124C>G (p.Ser375Cys)
c.276+16912G>C (n.276+16912G>C)
c.*220+5632C>G (n.*220+5632C>G)
c.248C>G (p.Ser83Cys)
c.275C>G (p.Ser92Cys)
c.1130C>G (p.Ser377Cys)
c.944C>G (p.Ser315Cys)
c.863C>G (p.Ser288Cys)
c.569C>G (p.Ser190Cys)
c.950C>G (p.Ser317Cys)
2g.48688592G>TCA346748727GTF2A1L,LHCGR,STON1-GTF2A1Lc.1205C>A (p.Ser402Tyr)
c.948-453C>A (n.948-453C>A)
c.3441+16912G>T (n.3441+16912G>T)
c.948-9C>A (n.948-9C>A)
c.1124C>A (p.Ser375Tyr)
c.276+16912G>T (n.276+16912G>T)
c.*220+5632C>A (n.*220+5632C>A)
c.248C>A (p.Ser83Tyr)
c.275C>A (p.Ser92Tyr)
c.1130C>A (p.Ser377Tyr)
c.944C>A (p.Ser315Tyr)
c.863C>A (p.Ser288Tyr)
c.569C>A (p.Ser190Tyr)
c.950C>A (p.Ser317Tyr)
 gnomAD v4
2g.48688593A>CCA346748728GTF2A1L,LHCGR,STON1-GTF2A1Lc.1204T>G (p.Ser402Ala)
c.948-454T>G (n.948-454T>G)
c.3441+16913A>C (n.3441+16913A>C)
c.948-10T>G (n.948-10T>G)
c.1123T>G (p.Ser375Ala)
c.276+16913A>C (n.276+16913A>C)
c.*220+5631T>G (n.*220+5631T>G)
c.247T>G (p.Ser83Ala)
c.274T>G (p.Ser92Ala)
c.1129T>G (p.Ser377Ala)
c.943T>G (p.Ser315Ala)
c.862T>G (p.Ser288Ala)
c.568T>G (p.Ser190Ala)
c.949T>G (p.Ser317Ala)
2g.48688593A>GCA346748729GTF2A1L,LHCGR,STON1-GTF2A1Lc.1204T>C (p.Ser402Pro)
c.948-454T>C (n.948-454T>C)
c.3441+16913A>G (n.3441+16913A>G)
c.948-10T>C (n.948-10T>C)
c.1123T>C (p.Ser375Pro)
c.276+16913A>G (n.276+16913A>G)
c.*220+5631T>C (n.*220+5631T>C)
c.247T>C (p.Ser83Pro)
c.274T>C (p.Ser92Pro)
c.1129T>C (p.Ser377Pro)
c.943T>C (p.Ser315Pro)
c.862T>C (p.Ser288Pro)
c.568T>C (p.Ser190Pro)
c.949T>C (p.Ser317Pro)
2g.48688593A>TCA346748733GTF2A1L,LHCGR,STON1-GTF2A1Lc.1204T>A (p.Ser402Thr)
c.948-454T>A (n.948-454T>A)
c.3441+16913A>T (n.3441+16913A>T)
c.948-10T>A (n.948-10T>A)
c.1123T>A (p.Ser375Thr)
c.276+16913A>T (n.276+16913A>T)
c.*220+5631T>A (n.*220+5631T>A)
c.247T>A (p.Ser83Thr)
c.274T>A (p.Ser92Thr)
c.1129T>A (p.Ser377Thr)
c.943T>A (p.Ser315Thr)
c.862T>A (p.Ser288Thr)
c.568T>A (p.Ser190Thr)
c.949T>A (p.Ser317Thr)
2g.48688594G>ACA426124563GTF2A1L,LHCGR,STON1-GTF2A1Lc.1203C>T (p.Leu401=)
c.948-455C>T (n.948-455C>T)
c.3441+16914G>A (n.3441+16914G>A)
c.948-11C>T (n.948-11C>T)
c.1122C>T (p.Leu374=)
c.276+16914G>A (n.276+16914G>A)
c.*220+5630C>T (n.*220+5630C>T)
c.246C>T (p.Leu82=)
c.273C>T (p.Leu91=)
c.1128C>T (p.Leu376=)
c.942C>T (p.Leu314=)
c.861C>T (p.Leu287=)
c.567C>T (p.Leu189=)
c.948C>T (p.Leu316=)
2g.48688594G>CCA1653066GTF2A1L,LHCGR,STON1-GTF2A1Lc.1203C>G (p.Leu401=)
c.948-455C>G (n.948-455C>G)
c.3441+16914G>C (n.3441+16914G>C)
c.948-11C>G (n.948-11C>G)
c.1122C>G (p.Leu374=)
c.276+16914G>C (n.276+16914G>C)
c.*220+5630C>G (n.*220+5630C>G)
c.246C>G (p.Leu82=)
c.273C>G (p.Leu91=)
c.1128C>G (p.Leu376=)
c.942C>G (p.Leu314=)
c.861C>G (p.Leu287=)
c.567C>G (p.Leu189=)
c.948C>G (p.Leu316=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688594G=CA1248601198GTF2A1L,LHCGR,STON1-GTF2A1Lc.1203C= (p.Leu401=)
c.948-455C= (n.948-455C=)
c.3441+16914G= (n.3441+16914G=)
c.948-11C= (n.948-11C=)
c.1122C= (p.Leu374=)
c.276+16914G= (n.276+16914G=)
c.*220+5630C= (n.*220+5630C=)
c.246C= (p.Leu82=)
c.273C= (p.Leu91=)
c.1128C= (p.Leu376=)
c.942C= (p.Leu314=)
c.861C= (p.Leu287=)
c.567C= (p.Leu189=)
c.948C= (p.Leu316=)
2g.48688594G>TCA426124564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1203C>A (p.Leu401=)
c.948-455C>A (n.948-455C>A)
c.3441+16914G>T (n.3441+16914G>T)
c.948-11C>A (n.948-11C>A)
c.1122C>A (p.Leu374=)
c.276+16914G>T (n.276+16914G>T)
c.*220+5630C>A (n.*220+5630C>A)
c.246C>A (p.Leu82=)
c.273C>A (p.Leu91=)
c.1128C>A (p.Leu376=)
c.942C>A (p.Leu314=)
c.861C>A (p.Leu287=)
c.567C>A (p.Leu189=)
c.948C>A (p.Leu316=)
2g.48688595A=CA1248601199GTF2A1L,LHCGR,STON1-GTF2A1Lc.1202T= (p.Leu401=)
c.948-456T= (n.948-456T=)
c.3441+16915A= (n.3441+16915A=)
c.948-12T= (n.948-12T=)
c.1121T= (p.Leu374=)
c.276+16915A= (n.276+16915A=)
c.*220+5629T= (n.*220+5629T=)
c.245T= (p.Leu82=)
c.272T= (p.Leu91=)
c.1127T= (p.Leu376=)
c.941T= (p.Leu314=)
c.860T= (p.Leu287=)
c.566T= (p.Leu189=)
c.947T= (p.Leu316=)
2g.48688595A>CCA346748739GTF2A1L,LHCGR,STON1-GTF2A1Lc.1202T>G (p.Leu401Arg)
c.948-456T>G (n.948-456T>G)
c.3441+16915A>C (n.3441+16915A>C)
c.948-12T>G (n.948-12T>G)
c.1121T>G (p.Leu374Arg)
c.276+16915A>C (n.276+16915A>C)
c.*220+5629T>G (n.*220+5629T>G)
c.245T>G (p.Leu82Arg)
c.272T>G (p.Leu91Arg)
c.1127T>G (p.Leu376Arg)
c.941T>G (p.Leu314Arg)
c.860T>G (p.Leu287Arg)
c.566T>G (p.Leu189Arg)
c.947T>G (p.Leu316Arg)
2g.48688595A>GCA346748742GTF2A1L,LHCGR,STON1-GTF2A1Lc.1202T>C (p.Leu401Pro)
c.948-456T>C (n.948-456T>C)
c.3441+16915A>G (n.3441+16915A>G)
c.948-12T>C (n.948-12T>C)
c.1121T>C (p.Leu374Pro)
c.276+16915A>G (n.276+16915A>G)
c.*220+5629T>C (n.*220+5629T>C)
c.245T>C (p.Leu82Pro)
c.272T>C (p.Leu91Pro)
c.1127T>C (p.Leu376Pro)
c.941T>C (p.Leu314Pro)
c.860T>C (p.Leu287Pro)
c.566T>C (p.Leu189Pro)
c.947T>C (p.Leu316Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688595A>TCA346748744GTF2A1L,LHCGR,STON1-GTF2A1Lc.1202T>A (p.Leu401His)
c.948-456T>A (n.948-456T>A)
c.3441+16915A>T (n.3441+16915A>T)
c.948-12T>A (n.948-12T>A)
c.1121T>A (p.Leu374His)
c.276+16915A>T (n.276+16915A>T)
c.*220+5629T>A (n.*220+5629T>A)
c.245T>A (p.Leu82His)
c.272T>A (p.Leu91His)
c.1127T>A (p.Leu376His)
c.941T>A (p.Leu314His)
c.860T>A (p.Leu287His)
c.566T>A (p.Leu189His)
c.947T>A (p.Leu316His)
2g.48688596G>ACA346748748GTF2A1L,LHCGR,STON1-GTF2A1Lc.1201C>T (p.Leu401Phe)
c.948-457C>T (n.948-457C>T)
c.3441+16916G>A (n.3441+16916G>A)
c.948-13C>T (n.948-13C>T)
c.1120C>T (p.Leu374Phe)
c.276+16916G>A (n.276+16916G>A)
c.*220+5628C>T (n.*220+5628C>T)
c.244C>T (p.Leu82Phe)
c.271C>T (p.Leu91Phe)
c.1126C>T (p.Leu376Phe)
c.940C>T (p.Leu314Phe)
c.859C>T (p.Leu287Phe)
c.565C>T (p.Leu189Phe)
c.946C>T (p.Leu316Phe)
2g.48688596G>CCA346748756GTF2A1L,LHCGR,STON1-GTF2A1Lc.1201C>G (p.Leu401Val)
c.948-457C>G (n.948-457C>G)
c.3441+16916G>C (n.3441+16916G>C)
c.948-13C>G (n.948-13C>G)
c.1120C>G (p.Leu374Val)
c.276+16916G>C (n.276+16916G>C)
c.*220+5628C>G (n.*220+5628C>G)
c.244C>G (p.Leu82Val)
c.271C>G (p.Leu91Val)
c.1126C>G (p.Leu376Val)
c.940C>G (p.Leu314Val)
c.859C>G (p.Leu287Val)
c.565C>G (p.Leu189Val)
c.946C>G (p.Leu316Val)
 gnomAD v4
2g.48688596G>TCA346748757GTF2A1L,LHCGR,STON1-GTF2A1Lc.1201C>A (p.Leu401Ile)
c.948-457C>A (n.948-457C>A)
c.3441+16916G>T (n.3441+16916G>T)
c.948-13C>A (n.948-13C>A)
c.1120C>A (p.Leu374Ile)
c.276+16916G>T (n.276+16916G>T)
c.*220+5628C>A (n.*220+5628C>A)
c.244C>A (p.Leu82Ile)
c.271C>A (p.Leu91Ile)
c.1126C>A (p.Leu376Ile)
c.940C>A (p.Leu314Ile)
c.859C>A (p.Leu287Ile)
c.565C>A (p.Leu189Ile)
c.946C>A (p.Leu316Ile)
 COSMIC
2g.48688597A>CCA346748762GTF2A1L,LHCGR,STON1-GTF2A1Lc.1200T>G (p.Asn400Lys)
c.948-458T>G (n.948-458T>G)
c.3441+16917A>C (n.3441+16917A>C)
c.948-14T>G (n.948-14T>G)
c.1119T>G (p.Asn373Lys)
c.276+16917A>C (n.276+16917A>C)
c.*220+5627T>G (n.*220+5627T>G)
c.243T>G (p.Asn81Lys)
c.270T>G (p.Asn90Lys)
c.1125T>G (p.Asn375Lys)
c.939T>G (p.Asn313Lys)
c.858T>G (p.Asn286Lys)
c.564T>G (p.Asn188Lys)
c.945T>G (p.Asn315Lys)
2g.48688597A>GCA426124565GTF2A1L,LHCGR,STON1-GTF2A1Lc.1200T>C (p.Asn400=)
c.948-458T>C (n.948-458T>C)
c.3441+16917A>G (n.3441+16917A>G)
c.948-14T>C (n.948-14T>C)
c.1119T>C (p.Asn373=)
c.276+16917A>G (n.276+16917A>G)
c.*220+5627T>C (n.*220+5627T>C)
c.243T>C (p.Asn81=)
c.270T>C (p.Asn90=)
c.1125T>C (p.Asn375=)
c.939T>C (p.Asn313=)
c.858T>C (p.Asn286=)
c.564T>C (p.Asn188=)
c.945T>C (p.Asn315=)
2g.48688597A>TCA346748760GTF2A1L,LHCGR,STON1-GTF2A1Lc.1200T>A (p.Asn400Lys)
c.948-458T>A (n.948-458T>A)
c.3441+16917A>T (n.3441+16917A>T)
c.948-14T>A (n.948-14T>A)
c.1119T>A (p.Asn373Lys)
c.276+16917A>T (n.276+16917A>T)
c.*220+5627T>A (n.*220+5627T>A)
c.243T>A (p.Asn81Lys)
c.270T>A (p.Asn90Lys)
c.1125T>A (p.Asn375Lys)
c.939T>A (p.Asn313Lys)
c.858T>A (p.Asn286Lys)
c.564T>A (p.Asn188Lys)
c.945T>A (p.Asn315Lys)
2g.48688598T>ACA346748763GTF2A1L,LHCGR,STON1-GTF2A1Lc.1199A>T (p.Asn400Ile)
c.948-459A>T (n.948-459A>T)
c.3441+16918T>A (n.3441+16918T>A)
c.948-15A>T (n.948-15A>T)
c.1118A>T (p.Asn373Ile)
c.276+16918T>A (n.276+16918T>A)
c.*220+5626A>T (n.*220+5626A>T)
c.242A>T (p.Asn81Ile)
c.269A>T (p.Asn90Ile)
c.1124A>T (p.Asn375Ile)
c.938A>T (p.Asn313Ile)
c.857A>T (p.Asn286Ile)
c.563A>T (p.Asn188Ile)
c.944A>T (p.Asn315Ile)
2g.48688598T>CCA346748767GTF2A1L,LHCGR,STON1-GTF2A1Lc.1199A>G (p.Asn400Ser)
c.948-459A>G (n.948-459A>G)
c.3441+16918T>C (n.3441+16918T>C)
c.948-15A>G (n.948-15A>G)
c.1118A>G (p.Asn373Ser)
c.276+16918T>C (n.276+16918T>C)
c.*220+5626A>G (n.*220+5626A>G)
c.242A>G (p.Asn81Ser)
c.269A>G (p.Asn90Ser)
c.1124A>G (p.Asn375Ser)
c.938A>G (p.Asn313Ser)
c.857A>G (p.Asn286Ser)
c.563A>G (p.Asn188Ser)
c.944A>G (p.Asn315Ser)
2g.48688598T>GCA346748765GTF2A1L,LHCGR,STON1-GTF2A1Lc.1199A>C (p.Asn400Thr)
c.948-459A>C (n.948-459A>C)
c.3441+16918T>G (n.3441+16918T>G)
c.948-15A>C (n.948-15A>C)
c.1118A>C (p.Asn373Thr)
c.276+16918T>G (n.276+16918T>G)
c.*220+5626A>C (n.*220+5626A>C)
c.242A>C (p.Asn81Thr)
c.269A>C (p.Asn90Thr)
c.1124A>C (p.Asn375Thr)
c.938A>C (p.Asn313Thr)
c.857A>C (p.Asn286Thr)
c.563A>C (p.Asn188Thr)
c.944A>C (p.Asn315Thr)
2g.48688599T>ACA346748769GTF2A1L,LHCGR,STON1-GTF2A1Lc.1198A>T (p.Asn400Tyr)
c.948-460A>T (n.948-460A>T)
c.3441+16919T>A (n.3441+16919T>A)
c.948-16A>T (n.948-16A>T)
c.1117A>T (p.Asn373Tyr)
c.276+16919T>A (n.276+16919T>A)
c.*220+5625A>T (n.*220+5625A>T)
c.241A>T (p.Asn81Tyr)
c.268A>T (p.Asn90Tyr)
c.1123A>T (p.Asn375Tyr)
c.937A>T (p.Asn313Tyr)
c.856A>T (p.Asn286Tyr)
c.562A>T (p.Asn188Tyr)
c.943A>T (p.Asn315Tyr)
2g.48688599T>CCA346748771GTF2A1L,LHCGR,STON1-GTF2A1Lc.1198A>G (p.Asn400Asp)
c.948-460A>G (n.948-460A>G)
c.3441+16919T>C (n.3441+16919T>C)
c.948-16A>G (n.948-16A>G)
c.1117A>G (p.Asn373Asp)
c.276+16919T>C (n.276+16919T>C)
c.*220+5625A>G (n.*220+5625A>G)
c.241A>G (p.Asn81Asp)
c.268A>G (p.Asn90Asp)
c.1123A>G (p.Asn375Asp)
c.937A>G (p.Asn313Asp)
c.856A>G (p.Asn286Asp)
c.562A>G (p.Asn188Asp)
c.943A>G (p.Asn315Asp)
2g.48688599T>GCA346748773GTF2A1L,LHCGR,STON1-GTF2A1Lc.1198A>C (p.Asn400His)
c.948-460A>C (n.948-460A>C)
c.3441+16919T>G (n.3441+16919T>G)
c.948-16A>C (n.948-16A>C)
c.1117A>C (p.Asn373His)
c.276+16919T>G (n.276+16919T>G)
c.*220+5625A>C (n.*220+5625A>C)
c.241A>C (p.Asn81His)
c.268A>C (p.Asn90His)
c.1123A>C (p.Asn375His)
c.937A>C (p.Asn313His)
c.856A>C (p.Asn286His)
c.562A>C (p.Asn188His)
c.943A>C (p.Asn315His)
2g.48688600G>ACA426124566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1197C>T (p.Cys399=)
c.948-461C>T (n.948-461C>T)
c.3441+16920G>A (n.3441+16920G>A)
c.948-17C>T (n.948-17C>T)
c.1116C>T (p.Cys372=)
c.276+16920G>A (n.276+16920G>A)
c.*220+5624C>T (n.*220+5624C>T)
c.240C>T (p.Cys80=)
c.267C>T (p.Cys89=)
c.1122C>T (p.Cys374=)
c.936C>T (p.Cys312=)
c.855C>T (p.Cys285=)
c.561C>T (p.Cys187=)
c.942C>T (p.Cys314=)
2g.48688600G>CCA346748777GTF2A1L,LHCGR,STON1-GTF2A1Lc.1197C>G (p.Cys399Trp)
c.948-461C>G (n.948-461C>G)
c.3441+16920G>C (n.3441+16920G>C)
c.948-17C>G (n.948-17C>G)
c.1116C>G (p.Cys372Trp)
c.276+16920G>C (n.276+16920G>C)
c.*220+5624C>G (n.*220+5624C>G)
c.240C>G (p.Cys80Trp)
c.267C>G (p.Cys89Trp)
c.1122C>G (p.Cys374Trp)
c.936C>G (p.Cys312Trp)
c.855C>G (p.Cys285Trp)
c.561C>G (p.Cys187Trp)
c.942C>G (p.Cys314Trp)
 gnomAD v4
2g.48688600G>TCA346748784GTF2A1L,LHCGR,STON1-GTF2A1Lc.1197C>A (p.Cys399Ter)
c.948-461C>A (n.948-461C>A)
c.3441+16920G>T (n.3441+16920G>T)
c.948-17C>A (n.948-17C>A)
c.1116C>A (p.Cys372Ter)
c.276+16920G>T (n.276+16920G>T)
c.*220+5624C>A (n.*220+5624C>A)
c.240C>A (p.Cys80Ter)
c.267C>A (p.Cys89Ter)
c.1122C>A (p.Cys374Ter)
c.936C>A (p.Cys312Ter)
c.855C>A (p.Cys285Ter)
c.561C>A (p.Cys187Ter)
c.942C>A (p.Cys314Ter)
2g.48688601C>ACA346748785GTF2A1L,LHCGR,STON1-GTF2A1Lc.1196G>T (p.Cys399Phe)
c.948-462G>T (n.948-462G>T)
c.3441+16921C>A (n.3441+16921C>A)
c.948-18G>T (n.948-18G>T)
c.1115G>T (p.Cys372Phe)
c.276+16921C>A (n.276+16921C>A)
c.*220+5623G>T (n.*220+5623G>T)
c.239G>T (p.Cys80Phe)
c.266G>T (p.Cys89Phe)
c.1121G>T (p.Cys374Phe)
c.935G>T (p.Cys312Phe)
c.854G>T (p.Cys285Phe)
c.560G>T (p.Cys187Phe)
c.941G>T (p.Cys314Phe)
2g.48688601C>GCA346748787GTF2A1L,LHCGR,STON1-GTF2A1Lc.1196G>C (p.Cys399Ser)
c.948-462G>C (n.948-462G>C)
c.3441+16921C>G (n.3441+16921C>G)
c.948-18G>C (n.948-18G>C)
c.1115G>C (p.Cys372Ser)
c.276+16921C>G (n.276+16921C>G)
c.*220+5623G>C (n.*220+5623G>C)
c.239G>C (p.Cys80Ser)
c.266G>C (p.Cys89Ser)
c.1121G>C (p.Cys374Ser)
c.935G>C (p.Cys312Ser)
c.854G>C (p.Cys285Ser)
c.560G>C (p.Cys187Ser)
c.941G>C (p.Cys314Ser)
2g.48688601C>TCA346748789GTF2A1L,LHCGR,STON1-GTF2A1Lc.1196G>A (p.Cys399Tyr)
c.948-462G>A (n.948-462G>A)
c.3441+16921C>T (n.3441+16921C>T)
c.948-18G>A (n.948-18G>A)
c.1115G>A (p.Cys372Tyr)
c.276+16921C>T (n.276+16921C>T)
c.*220+5623G>A (n.*220+5623G>A)
c.239G>A (p.Cys80Tyr)
c.266G>A (p.Cys89Tyr)
c.1121G>A (p.Cys374Tyr)
c.935G>A (p.Cys312Tyr)
c.854G>A (p.Cys285Tyr)
c.560G>A (p.Cys187Tyr)
c.941G>A (p.Cys314Tyr)
2g.48688602A>CCA346748794GTF2A1L,LHCGR,STON1-GTF2A1Lc.1195T>G (p.Cys399Gly)
c.948-463T>G (n.948-463T>G)
c.3441+16922A>C (n.3441+16922A>C)
c.948-19T>G (n.948-19T>G)
c.1114T>G (p.Cys372Gly)
c.276+16922A>C (n.276+16922A>C)
c.*220+5622T>G (n.*220+5622T>G)
c.238T>G (p.Cys80Gly)
c.265T>G (p.Cys89Gly)
c.1120T>G (p.Cys374Gly)
c.934T>G (p.Cys312Gly)
c.853T>G (p.Cys285Gly)
c.559T>G (p.Cys187Gly)
c.940T>G (p.Cys314Gly)
2g.48688602A>GCA346748796GTF2A1L,LHCGR,STON1-GTF2A1Lc.1195T>C (p.Cys399Arg)
c.948-463T>C (n.948-463T>C)
c.3441+16922A>G (n.3441+16922A>G)
c.948-19T>C (n.948-19T>C)
c.1114T>C (p.Cys372Arg)
c.276+16922A>G (n.276+16922A>G)
c.*220+5622T>C (n.*220+5622T>C)
c.238T>C (p.Cys80Arg)
c.265T>C (p.Cys89Arg)
c.1120T>C (p.Cys374Arg)
c.934T>C (p.Cys312Arg)
c.853T>C (p.Cys285Arg)
c.559T>C (p.Cys187Arg)
c.940T>C (p.Cys314Arg)
2g.48688602A>TCA346748799GTF2A1L,LHCGR,STON1-GTF2A1Lc.1195T>A (p.Cys399Ser)
c.948-463T>A (n.948-463T>A)
c.3441+16922A>T (n.3441+16922A>T)
c.948-19T>A (n.948-19T>A)
c.1114T>A (p.Cys372Ser)
c.276+16922A>T (n.276+16922A>T)
c.*220+5622T>A (n.*220+5622T>A)
c.238T>A (p.Cys80Ser)
c.265T>A (p.Cys89Ser)
c.1120T>A (p.Cys374Ser)
c.934T>A (p.Cys312Ser)
c.853T>A (p.Cys285Ser)
c.559T>A (p.Cys187Ser)
c.940T>A (p.Cys314Ser)
2g.48688603C>ACA346748803GTF2A1L,LHCGR,STON1-GTF2A1Lc.1194G>T (p.Met398Ile)
c.948-464G>T (n.948-464G>T)
c.3441+16923C>A (n.3441+16923C>A)
c.948-20G>T (n.948-20G>T)
c.1113G>T (p.Met371Ile)
c.276+16923C>A (n.276+16923C>A)
c.*220+5621G>T (n.*220+5621G>T)
c.237G>T (p.Met79Ile)
c.264G>T (p.Met88Ile)
c.1119G>T (p.Met373Ile)
c.933G>T (p.Met311Ile)
c.852G>T (p.Met284Ile)
c.558G>T (p.Met186Ile)
c.939G>T (p.Met313Ile)
2g.48688603C=CA1248601200GTF2A1L,LHCGR,STON1-GTF2A1Lc.1194G= (p.Met398=)
c.948-464G= (n.948-464G=)
c.3441+16923C= (n.3441+16923C=)
c.948-20G= (n.948-20G=)
c.1113G= (p.Met371=)
c.276+16923C= (n.276+16923C=)
c.*220+5621G= (n.*220+5621G=)
c.237G= (p.Met79=)
c.264G= (p.Met88=)
c.1119G= (p.Met373=)
c.933G= (p.Met311=)
c.852G= (p.Met284=)
c.558G= (p.Met186=)
c.939G= (p.Met313=)
2g.48688603C>GCA346748804GTF2A1L,LHCGR,STON1-GTF2A1Lc.1194G>C (p.Met398Ile)
c.948-464G>C (n.948-464G>C)
c.3441+16923C>G (n.3441+16923C>G)
c.948-20G>C (n.948-20G>C)
c.1113G>C (p.Met371Ile)
c.276+16923C>G (n.276+16923C>G)
c.*220+5621G>C (n.*220+5621G>C)
c.237G>C (p.Met79Ile)
c.264G>C (p.Met88Ile)
c.1119G>C (p.Met373Ile)
c.933G>C (p.Met311Ile)
c.852G>C (p.Met284Ile)
c.558G>C (p.Met186Ile)
c.939G>C (p.Met313Ile)
2g.48688603C>TCA346748808GTF2A1L,LHCGR,STON1-GTF2A1Lc.1194G>A (p.Met398Ile)
c.948-464G>A (n.948-464G>A)
c.3441+16923C>T (n.3441+16923C>T)
c.948-20G>A (n.948-20G>A)
c.1113G>A (p.Met371Ile)
c.276+16923C>T (n.276+16923C>T)
c.*220+5621G>A (n.*220+5621G>A)
c.237G>A (p.Met79Ile)
c.264G>A (p.Met88Ile)
c.1119G>A (p.Met373Ile)
c.933G>A (p.Met311Ile)
c.852G>A (p.Met284Ile)
c.558G>A (p.Met186Ile)
c.939G>A (p.Met313Ile)
 dbSNP gnomAD v4
2g.48688604A=CA1248601201GTF2A1L,LHCGR,STON1-GTF2A1Lc.1193T= (p.Met398=)
c.948-465T= (n.948-465T=)
c.3441+16924A= (n.3441+16924A=)
c.948-21T= (n.948-21T=)
c.1112T= (p.Met371=)
c.276+16924A= (n.276+16924A=)
c.*220+5620T= (n.*220+5620T=)
c.236T= (p.Met79=)
c.263T= (p.Met88=)
c.1118T= (p.Met373=)
c.932T= (p.Met311=)
c.851T= (p.Met284=)
c.557T= (p.Met186=)
c.938T= (p.Met313=)
2g.48688604A>CCA346748814GTF2A1L,LHCGR,STON1-GTF2A1Lc.1193T>G (p.Met398Arg)
c.948-465T>G (n.948-465T>G)
c.3441+16924A>C (n.3441+16924A>C)
c.948-21T>G (n.948-21T>G)
c.1112T>G (p.Met371Arg)
c.276+16924A>C (n.276+16924A>C)
c.*220+5620T>G (n.*220+5620T>G)
c.236T>G (p.Met79Arg)
c.263T>G (p.Met88Arg)
c.1118T>G (p.Met373Arg)
c.932T>G (p.Met311Arg)
c.851T>G (p.Met284Arg)
c.557T>G (p.Met186Arg)
c.938T>G (p.Met313Arg)
2g.48688604A>GCA123924GTF2A1L,LHCGR,STON1-GTF2A1Lc.1193T>C (p.Met398Thr)
c.948-465T>C (n.948-465T>C)
c.3441+16924A>G (n.3441+16924A>G)
c.948-21T>C (n.948-21T>C)
c.1112T>C (p.Met371Thr)
c.276+16924A>G (n.276+16924A>G)
c.*220+5620T>C (n.*220+5620T>C)
c.236T>C (p.Met79Thr)
c.263T>C (p.Met88Thr)
c.1118T>C (p.Met373Thr)
c.932T>C (p.Met311Thr)
c.851T>C (p.Met284Thr)
c.557T>C (p.Met186Thr)
c.938T>C (p.Met313Thr)
 ClinVar dbSNP
2g.48688604A>TCA346748811GTF2A1L,LHCGR,STON1-GTF2A1Lc.1193T>A (p.Met398Lys)
c.948-465T>A (n.948-465T>A)
c.3441+16924A>T (n.3441+16924A>T)
c.948-21T>A (n.948-21T>A)
c.1112T>A (p.Met371Lys)
c.276+16924A>T (n.276+16924A>T)
c.*220+5620T>A (n.*220+5620T>A)
c.236T>A (p.Met79Lys)
c.263T>A (p.Met88Lys)
c.1118T>A (p.Met373Lys)
c.932T>A (p.Met311Lys)
c.851T>A (p.Met284Lys)
c.557T>A (p.Met186Lys)
c.938T>A (p.Met313Lys)
2g.48688605T>ACA346748815GTF2A1L,LHCGR,STON1-GTF2A1Lc.1192A>T (p.Met398Leu)
c.948-466A>T (n.948-466A>T)
c.3441+16925T>A (n.3441+16925T>A)
c.948-22A>T (n.948-22A>T)
c.1111A>T (p.Met371Leu)
c.276+16925T>A (n.276+16925T>A)
c.*220+5619A>T (n.*220+5619A>T)
c.235A>T (p.Met79Leu)
c.262A>T (p.Met88Leu)
c.1117A>T (p.Met373Leu)
c.931A>T (p.Met311Leu)
c.850A>T (p.Met284Leu)
c.556A>T (p.Met186Leu)
c.937A>T (p.Met313Leu)
2g.48688605T>CCA1653067GTF2A1L,LHCGR,STON1-GTF2A1Lc.1192A>G (p.Met398Val)
c.948-466A>G (n.948-466A>G)
c.3441+16925T>C (n.3441+16925T>C)
c.948-22A>G (n.948-22A>G)
c.1111A>G (p.Met371Val)
c.276+16925T>C (n.276+16925T>C)
c.*220+5619A>G (n.*220+5619A>G)
c.235A>G (p.Met79Val)
c.262A>G (p.Met88Val)
c.1117A>G (p.Met373Val)
c.931A>G (p.Met311Val)
c.850A>G (p.Met284Val)
c.556A>G (p.Met186Val)
c.937A>G (p.Met313Val)
 dbSNP ExAC gnomAD v2
2g.48688605T>GCA346748820GTF2A1L,LHCGR,STON1-GTF2A1Lc.1192A>C (p.Met398Leu)
c.948-466A>C (n.948-466A>C)
c.3441+16925T>G (n.3441+16925T>G)
c.948-22A>C (n.948-22A>C)
c.1111A>C (p.Met371Leu)
c.276+16925T>G (n.276+16925T>G)
c.*220+5619A>C (n.*220+5619A>C)
c.235A>C (p.Met79Leu)
c.262A>C (p.Met88Leu)
c.1117A>C (p.Met373Leu)
c.931A>C (p.Met311Leu)
c.850A>C (p.Met284Leu)
c.556A>C (p.Met186Leu)
c.937A>C (p.Met313Leu)
2g.48688605T=CA1248601202GTF2A1L,LHCGR,STON1-GTF2A1Lc.1192A= (p.Met398=)
c.948-466A= (n.948-466A=)
c.3441+16925T= (n.3441+16925T=)
c.948-22A= (n.948-22A=)
c.1111A= (p.Met371=)
c.276+16925T= (n.276+16925T=)
c.*220+5619A= (n.*220+5619A=)
c.235A= (p.Met79=)
c.262A= (p.Met88=)
c.1117A= (p.Met373=)
c.931A= (p.Met311=)
c.850A= (p.Met284=)
c.556A= (p.Met186=)
c.937A= (p.Met313=)
2g.48688606G>ACA426124567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1191C>T (p.Leu397=)
c.948-467C>T (n.948-467C>T)
c.3441+16926G>A (n.3441+16926G>A)
c.948-23C>T (n.948-23C>T)
c.1110C>T (p.Leu370=)
c.276+16926G>A (n.276+16926G>A)
c.*220+5618C>T (n.*220+5618C>T)
c.234C>T (p.Leu78=)
c.261C>T (p.Leu87=)
c.1116C>T (p.Leu372=)
c.930C>T (p.Leu310=)
c.849C>T (p.Leu283=)
c.555C>T (p.Leu185=)
c.936C>T (p.Leu312=)
2g.48688606G>CCA426124568GTF2A1L,LHCGR,STON1-GTF2A1Lc.1191C>G (p.Leu397=)
c.948-467C>G (n.948-467C>G)
c.3441+16926G>C (n.3441+16926G>C)
c.948-23C>G (n.948-23C>G)
c.1110C>G (p.Leu370=)
c.276+16926G>C (n.276+16926G>C)
c.*220+5618C>G (n.*220+5618C>G)
c.234C>G (p.Leu78=)
c.261C>G (p.Leu87=)
c.1116C>G (p.Leu372=)
c.930C>G (p.Leu310=)
c.849C>G (p.Leu283=)
c.555C>G (p.Leu185=)
c.936C>G (p.Leu312=)
2g.48688606G>TCA426124569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1191C>A (p.Leu397=)
c.948-467C>A (n.948-467C>A)
c.3441+16926G>T (n.3441+16926G>T)
c.948-23C>A (n.948-23C>A)
c.1110C>A (p.Leu370=)
c.276+16926G>T (n.276+16926G>T)
c.*220+5618C>A (n.*220+5618C>A)
c.234C>A (p.Leu78=)
c.261C>A (p.Leu87=)
c.1116C>A (p.Leu372=)
c.930C>A (p.Leu310=)
c.849C>A (p.Leu283=)
c.555C>A (p.Leu185=)
c.936C>A (p.Leu312=)
2g.48688607A>CCA346748821GTF2A1L,LHCGR,STON1-GTF2A1Lc.1190T>G (p.Leu397Arg)
c.948-468T>G (n.948-468T>G)
c.3441+16927A>C (n.3441+16927A>C)
c.948-24T>G (n.948-24T>G)
c.1109T>G (p.Leu370Arg)
c.276+16927A>C (n.276+16927A>C)
c.*220+5617T>G (n.*220+5617T>G)
c.233T>G (p.Leu78Arg)
c.260T>G (p.Leu87Arg)
c.1115T>G (p.Leu372Arg)
c.929T>G (p.Leu310Arg)
c.848T>G (p.Leu283Arg)
c.554T>G (p.Leu185Arg)
c.935T>G (p.Leu312Arg)
2g.48688607A>GCA346748823GTF2A1L,LHCGR,STON1-GTF2A1Lc.1190T>C (p.Leu397Pro)
c.948-468T>C (n.948-468T>C)
c.3441+16927A>G (n.3441+16927A>G)
c.948-24T>C (n.948-24T>C)
c.1109T>C (p.Leu370Pro)
c.276+16927A>G (n.276+16927A>G)
c.*220+5617T>C (n.*220+5617T>C)
c.233T>C (p.Leu78Pro)
c.260T>C (p.Leu87Pro)
c.1115T>C (p.Leu372Pro)
c.929T>C (p.Leu310Pro)
c.848T>C (p.Leu283Pro)
c.554T>C (p.Leu185Pro)
c.935T>C (p.Leu312Pro)
2g.48688607A>TCA346748826GTF2A1L,LHCGR,STON1-GTF2A1Lc.1190T>A (p.Leu397His)
c.948-468T>A (n.948-468T>A)
c.3441+16927A>T (n.3441+16927A>T)
c.948-24T>A (n.948-24T>A)
c.1109T>A (p.Leu370His)
c.276+16927A>T (n.276+16927A>T)
c.*220+5617T>A (n.*220+5617T>A)
c.233T>A (p.Leu78His)
c.260T>A (p.Leu87His)
c.1115T>A (p.Leu372His)
c.929T>A (p.Leu310His)
c.848T>A (p.Leu283His)
c.554T>A (p.Leu185His)
c.935T>A (p.Leu312His)
2g.48688608G>ACA346748828GTF2A1L,LHCGR,STON1-GTF2A1Lc.1189C>T (p.Leu397Phe)
c.948-469C>T (n.948-469C>T)
c.3441+16928G>A (n.3441+16928G>A)
c.948-25C>T (n.948-25C>T)
c.1108C>T (p.Leu370Phe)
c.276+16928G>A (n.276+16928G>A)
c.*220+5616C>T (n.*220+5616C>T)
c.232C>T (p.Leu78Phe)
c.259C>T (p.Leu87Phe)
c.1114C>T (p.Leu372Phe)
c.928C>T (p.Leu310Phe)
c.847C>T (p.Leu283Phe)
c.553C>T (p.Leu185Phe)
c.934C>T (p.Leu312Phe)
2g.48688608G>CCA346748834GTF2A1L,LHCGR,STON1-GTF2A1Lc.1189C>G (p.Leu397Val)
c.948-469C>G (n.948-469C>G)
c.3441+16928G>C (n.3441+16928G>C)
c.948-25C>G (n.948-25C>G)
c.1108C>G (p.Leu370Val)
c.276+16928G>C (n.276+16928G>C)
c.*220+5616C>G (n.*220+5616C>G)
c.232C>G (p.Leu78Val)
c.259C>G (p.Leu87Val)
c.1114C>G (p.Leu372Val)
c.928C>G (p.Leu310Val)
c.847C>G (p.Leu283Val)
c.553C>G (p.Leu185Val)
c.934C>G (p.Leu312Val)
2g.48688608G>TCA346748836GTF2A1L,LHCGR,STON1-GTF2A1Lc.1189C>A (p.Leu397Ile)
c.948-469C>A (n.948-469C>A)
c.3441+16928G>T (n.3441+16928G>T)
c.948-25C>A (n.948-25C>A)
c.1108C>A (p.Leu370Ile)
c.276+16928G>T (n.276+16928G>T)
c.*220+5616C>A (n.*220+5616C>A)
c.232C>A (p.Leu78Ile)
c.259C>A (p.Leu87Ile)
c.1114C>A (p.Leu372Ile)
c.928C>A (p.Leu310Ile)
c.847C>A (p.Leu283Ile)
c.553C>A (p.Leu185Ile)
c.934C>A (p.Leu312Ile)
2g.48688609A>CCA346748838GTF2A1L,LHCGR,STON1-GTF2A1Lc.1188T>G (p.Phe396Leu)
c.948-470T>G (n.948-470T>G)
c.3441+16929A>C (n.3441+16929A>C)
c.948-26T>G (n.948-26T>G)
c.1107T>G (p.Phe369Leu)
c.276+16929A>C (n.276+16929A>C)
c.*220+5615T>G (n.*220+5615T>G)
c.231T>G (p.Phe77Leu)
c.258T>G (p.Phe86Leu)
c.1113T>G (p.Phe371Leu)
c.927T>G (p.Phe309Leu)
c.846T>G (p.Phe282Leu)
c.552T>G (p.Phe184Leu)
c.933T>G (p.Phe311Leu)
2g.48688609A>GCA426124570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1188T>C (p.Phe396=)
c.948-470T>C (n.948-470T>C)
c.3441+16929A>G (n.3441+16929A>G)
c.948-26T>C (n.948-26T>C)
c.1107T>C (p.Phe369=)
c.276+16929A>G (n.276+16929A>G)
c.*220+5615T>C (n.*220+5615T>C)
c.231T>C (p.Phe77=)
c.258T>C (p.Phe86=)
c.1113T>C (p.Phe371=)
c.927T>C (p.Phe309=)
c.846T>C (p.Phe282=)
c.552T>C (p.Phe184=)
c.933T>C (p.Phe311=)
 gnomAD v4
2g.48688609A>TCA346748839GTF2A1L,LHCGR,STON1-GTF2A1Lc.1188T>A (p.Phe396Leu)
c.948-470T>A (n.948-470T>A)
c.3441+16929A>T (n.3441+16929A>T)
c.948-26T>A (n.948-26T>A)
c.1107T>A (p.Phe369Leu)
c.276+16929A>T (n.276+16929A>T)
c.*220+5615T>A (n.*220+5615T>A)
c.231T>A (p.Phe77Leu)
c.258T>A (p.Phe86Leu)
c.1113T>A (p.Phe371Leu)
c.927T>A (p.Phe309Leu)
c.846T>A (p.Phe282Leu)
c.552T>A (p.Phe184Leu)
c.933T>A (p.Phe311Leu)
2g.48688610A>CCA346748845GTF2A1L,LHCGR,STON1-GTF2A1Lc.1187T>G (p.Phe396Cys)
c.948-471T>G (n.948-471T>G)
c.3441+16930A>C (n.3441+16930A>C)
c.948-27T>G (n.948-27T>G)
c.1106T>G (p.Phe369Cys)
c.276+16930A>C (n.276+16930A>C)
c.*220+5614T>G (n.*220+5614T>G)
c.230T>G (p.Phe77Cys)
c.257T>G (p.Phe86Cys)
c.1112T>G (p.Phe371Cys)
c.926T>G (p.Phe309Cys)
c.845T>G (p.Phe282Cys)
c.551T>G (p.Phe184Cys)
c.932T>G (p.Phe311Cys)
2g.48688610A>GCA346748846GTF2A1L,LHCGR,STON1-GTF2A1Lc.1187T>C (p.Phe396Ser)
c.948-471T>C (n.948-471T>C)
c.3441+16930A>G (n.3441+16930A>G)
c.948-27T>C (n.948-27T>C)
c.1106T>C (p.Phe369Ser)
c.276+16930A>G (n.276+16930A>G)
c.*220+5614T>C (n.*220+5614T>C)
c.230T>C (p.Phe77Ser)
c.257T>C (p.Phe86Ser)
c.1112T>C (p.Phe371Ser)
c.926T>C (p.Phe309Ser)
c.845T>C (p.Phe282Ser)
c.551T>C (p.Phe184Ser)
c.932T>C (p.Phe311Ser)
 gnomAD v4
2g.48688610A>TCA346748848GTF2A1L,LHCGR,STON1-GTF2A1Lc.1187T>A (p.Phe396Tyr)
c.948-471T>A (n.948-471T>A)
c.3441+16930A>T (n.3441+16930A>T)
c.948-27T>A (n.948-27T>A)
c.1106T>A (p.Phe369Tyr)
c.276+16930A>T (n.276+16930A>T)
c.*220+5614T>A (n.*220+5614T>A)
c.230T>A (p.Phe77Tyr)
c.257T>A (p.Phe86Tyr)
c.1112T>A (p.Phe371Tyr)
c.926T>A (p.Phe309Tyr)
c.845T>A (p.Phe282Tyr)
c.551T>A (p.Phe184Tyr)
c.932T>A (p.Phe311Tyr)
2g.48688611A=CA1248601203GTF2A1L,LHCGR,STON1-GTF2A1Lc.1186T= (p.Phe396=)
c.948-472T= (n.948-472T=)
c.3441+16931A= (n.3441+16931A=)
c.948-28T= (n.948-28T=)
c.1105T= (p.Phe369=)
c.276+16931A= (n.276+16931A=)
c.*220+5613T= (n.*220+5613T=)
c.229T= (p.Phe77=)
c.256T= (p.Phe86=)
c.1111T= (p.Phe371=)
c.925T= (p.Phe309=)
c.844T= (p.Phe282=)
c.550T= (p.Phe184=)
c.931T= (p.Phe311=)
2g.48688611A>CCA346748853GTF2A1L,LHCGR,STON1-GTF2A1Lc.1186T>G (p.Phe396Val)
c.948-472T>G (n.948-472T>G)
c.3441+16931A>C (n.3441+16931A>C)
c.948-28T>G (n.948-28T>G)
c.1105T>G (p.Phe369Val)
c.276+16931A>C (n.276+16931A>C)
c.*220+5613T>G (n.*220+5613T>G)
c.229T>G (p.Phe77Val)
c.256T>G (p.Phe86Val)
c.1111T>G (p.Phe371Val)
c.925T>G (p.Phe309Val)
c.844T>G (p.Phe282Val)
c.550T>G (p.Phe184Val)
c.931T>G (p.Phe311Val)
 dbSNP
2g.48688611A>GCA346748856GTF2A1L,LHCGR,STON1-GTF2A1Lc.1186T>C (p.Phe396Leu)
c.948-472T>C (n.948-472T>C)
c.3441+16931A>G (n.3441+16931A>G)
c.948-28T>C (n.948-28T>C)
c.1105T>C (p.Phe369Leu)
c.276+16931A>G (n.276+16931A>G)
c.*220+5613T>C (n.*220+5613T>C)
c.229T>C (p.Phe77Leu)
c.256T>C (p.Phe86Leu)
c.1111T>C (p.Phe371Leu)
c.925T>C (p.Phe309Leu)
c.844T>C (p.Phe282Leu)
c.550T>C (p.Phe184Leu)
c.931T>C (p.Phe311Leu)
2g.48688611A>TCA346748851GTF2A1L,LHCGR,STON1-GTF2A1Lc.1186T>A (p.Phe396Ile)
c.948-472T>A (n.948-472T>A)
c.3441+16931A>T (n.3441+16931A>T)
c.948-28T>A (n.948-28T>A)
c.1105T>A (p.Phe369Ile)
c.276+16931A>T (n.276+16931A>T)
c.*220+5613T>A (n.*220+5613T>A)
c.229T>A (p.Phe77Ile)
c.256T>A (p.Phe86Ile)
c.1111T>A (p.Phe371Ile)
c.925T>A (p.Phe309Ile)
c.844T>A (p.Phe282Ile)
c.550T>A (p.Phe184Ile)
c.931T>A (p.Phe311Ile)
2g.48688612A>CCA426124573GTF2A1L,LHCGR,STON1-GTF2A1Lc.1185T>G (p.Arg395=)
c.948-473T>G (n.948-473T>G)
c.3441+16932A>C (n.3441+16932A>C)
c.948-29T>G (n.948-29T>G)
c.1104T>G (p.Arg368=)
c.276+16932A>C (n.276+16932A>C)
c.*220+5612T>G (n.*220+5612T>G)
c.228T>G (p.Arg76=)
c.255T>G (p.Arg85=)
c.1110T>G (p.Arg370=)
c.924T>G (p.Arg308=)
c.843T>G (p.Arg281=)
c.549T>G (p.Arg183=)
c.930T>G (p.Arg310=)
2g.48688612A>GCA426124571GTF2A1L,LHCGR,STON1-GTF2A1Lc.1185T>C (p.Arg395=)
c.948-473T>C (n.948-473T>C)
c.3441+16932A>G (n.3441+16932A>G)
c.948-29T>C (n.948-29T>C)
c.1104T>C (p.Arg368=)
c.276+16932A>G (n.276+16932A>G)
c.*220+5612T>C (n.*220+5612T>C)
c.228T>C (p.Arg76=)
c.255T>C (p.Arg85=)
c.1110T>C (p.Arg370=)
c.924T>C (p.Arg308=)
c.843T>C (p.Arg281=)
c.549T>C (p.Arg183=)
c.930T>C (p.Arg310=)
2g.48688612A>TCA426124572GTF2A1L,LHCGR,STON1-GTF2A1Lc.1185T>A (p.Arg395=)
c.948-473T>A (n.948-473T>A)
c.3441+16932A>T (n.3441+16932A>T)
c.948-29T>A (n.948-29T>A)
c.1104T>A (p.Arg368=)
c.276+16932A>T (n.276+16932A>T)
c.*220+5612T>A (n.*220+5612T>A)
c.228T>A (p.Arg76=)
c.255T>A (p.Arg85=)
c.1110T>A (p.Arg370=)
c.924T>A (p.Arg308=)
c.843T>A (p.Arg281=)
c.549T>A (p.Arg183=)
c.930T>A (p.Arg310=)
2g.48688613C>ACA346748860GTF2A1L,LHCGR,STON1-GTF2A1Lc.1184G>T (p.Arg395Leu)
c.948-474G>T (n.948-474G>T)
c.3441+16933C>A (n.3441+16933C>A)
c.948-30G>T (n.948-30G>T)
c.1103G>T (p.Arg368Leu)
c.276+16933C>A (n.276+16933C>A)
c.*220+5611G>T (n.*220+5611G>T)
c.227G>T (p.Arg76Leu)
c.254G>T (p.Arg85Leu)
c.1109G>T (p.Arg370Leu)
c.923G>T (p.Arg308Leu)
c.842G>T (p.Arg281Leu)
c.548G>T (p.Arg183Leu)
c.929G>T (p.Arg310Leu)
2g.48688613C=CA1248601204GTF2A1L,LHCGR,STON1-GTF2A1Lc.1184G= (p.Arg395=)
c.948-474G= (n.948-474G=)
c.3441+16933C= (n.3441+16933C=)
c.948-30G= (n.948-30G=)
c.1103G= (p.Arg368=)
c.276+16933C= (n.276+16933C=)
c.*220+5611G= (n.*220+5611G=)
c.227G= (p.Arg76=)
c.254G= (p.Arg85=)
c.1109G= (p.Arg370=)
c.923G= (p.Arg308=)
c.842G= (p.Arg281=)
c.548G= (p.Arg183=)
c.929G= (p.Arg310=)
2g.48688613C>GCA346748864GTF2A1L,LHCGR,STON1-GTF2A1Lc.1184G>C (p.Arg395Pro)
c.948-474G>C (n.948-474G>C)
c.3441+16933C>G (n.3441+16933C>G)
c.948-30G>C (n.948-30G>C)
c.1103G>C (p.Arg368Pro)
c.276+16933C>G (n.276+16933C>G)
c.*220+5611G>C (n.*220+5611G>C)
c.227G>C (p.Arg76Pro)
c.254G>C (p.Arg85Pro)
c.1109G>C (p.Arg370Pro)
c.923G>C (p.Arg308Pro)
c.842G>C (p.Arg281Pro)
c.548G>C (p.Arg183Pro)
c.929G>C (p.Arg310Pro)
2g.48688613C>TCA1653068GTF2A1L,LHCGR,STON1-GTF2A1Lc.1184G>A (p.Arg395His)
c.948-474G>A (n.948-474G>A)
c.3441+16933C>T (n.3441+16933C>T)
c.948-30G>A (n.948-30G>A)
c.1103G>A (p.Arg368His)
c.276+16933C>T (n.276+16933C>T)
c.*220+5611G>A (n.*220+5611G>A)
c.227G>A (p.Arg76His)
c.254G>A (p.Arg85His)
c.1109G>A (p.Arg370His)
c.923G>A (p.Arg308His)
c.842G>A (p.Arg281His)
c.548G>A (p.Arg183His)
c.929G>A (p.Arg310His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48688614G>ACA346748873GTF2A1L,LHCGR,STON1-GTF2A1Lc.1183C>T (p.Arg395Cys)
c.948-475C>T (n.948-475C>T)
c.3441+16934G>A (n.3441+16934G>A)
c.948-31C>T (n.948-31C>T)
c.1102C>T (p.Arg368Cys)
c.276+16934G>A (n.276+16934G>A)
c.*220+5610C>T (n.*220+5610C>T)
c.226C>T (p.Arg76Cys)
c.253C>T (p.Arg85Cys)
c.1108C>T (p.Arg370Cys)
c.922C>T (p.Arg308Cys)
c.841C>T (p.Arg281Cys)
c.547C>T (p.Arg183Cys)
c.928C>T (p.Arg310Cys)
 ClinVar gnomAD v4 COSMIC
2g.48688614G>CCA346748875GTF2A1L,LHCGR,STON1-GTF2A1Lc.1183C>G (p.Arg395Gly)
c.948-475C>G (n.948-475C>G)
c.3441+16934G>C (n.3441+16934G>C)
c.948-31C>G (n.948-31C>G)
c.1102C>G (p.Arg368Gly)
c.276+16934G>C (n.276+16934G>C)
c.*220+5610C>G (n.*220+5610C>G)
c.226C>G (p.Arg76Gly)
c.253C>G (p.Arg85Gly)
c.1108C>G (p.Arg370Gly)
c.922C>G (p.Arg308Gly)
c.841C>G (p.Arg281Gly)
c.547C>G (p.Arg183Gly)
c.928C>G (p.Arg310Gly)
2g.48688614G>TCA346748878GTF2A1L,LHCGR,STON1-GTF2A1Lc.1183C>A (p.Arg395Ser)
c.948-475C>A (n.948-475C>A)
c.3441+16934G>T (n.3441+16934G>T)
c.948-31C>A (n.948-31C>A)
c.1102C>A (p.Arg368Ser)
c.276+16934G>T (n.276+16934G>T)
c.*220+5610C>A (n.*220+5610C>A)
c.226C>A (p.Arg76Ser)
c.253C>A (p.Arg85Ser)
c.1108C>A (p.Arg370Ser)
c.922C>A (p.Arg308Ser)
c.841C>A (p.Arg281Ser)
c.547C>A (p.Arg183Ser)
c.928C>A (p.Arg310Ser)
2g.48688615A>CCA426124574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1182T>G (p.Pro394=)
c.948-476T>G (n.948-476T>G)
c.3441+16935A>C (n.3441+16935A>C)
c.948-32T>G (n.948-32T>G)
c.1101T>G (p.Pro367=)
c.276+16935A>C (n.276+16935A>C)
c.*220+5609T>G (n.*220+5609T>G)
c.225T>G (p.Pro75=)
c.252T>G (p.Pro84=)
c.1107T>G (p.Pro369=)
c.921T>G (p.Pro307=)
c.840T>G (p.Pro280=)
c.546T>G (p.Pro182=)
c.927T>G (p.Pro309=)
2g.48688615A>GCA426124576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1182T>C (p.Pro394=)
c.948-476T>C (n.948-476T>C)
c.3441+16935A>G (n.3441+16935A>G)
c.948-32T>C (n.948-32T>C)
c.1101T>C (p.Pro367=)
c.276+16935A>G (n.276+16935A>G)
c.*220+5609T>C (n.*220+5609T>C)
c.225T>C (p.Pro75=)
c.252T>C (p.Pro84=)
c.1107T>C (p.Pro369=)
c.921T>C (p.Pro307=)
c.840T>C (p.Pro280=)
c.546T>C (p.Pro182=)
c.927T>C (p.Pro309=)
2g.48688615A>TCA426124575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1182T>A (p.Pro394=)
c.948-476T>A (n.948-476T>A)
c.3441+16935A>T (n.3441+16935A>T)
c.948-32T>A (n.948-32T>A)
c.1101T>A (p.Pro367=)
c.276+16935A>T (n.276+16935A>T)
c.*220+5609T>A (n.*220+5609T>A)
c.225T>A (p.Pro75=)
c.252T>A (p.Pro84=)
c.1107T>A (p.Pro369=)
c.921T>A (p.Pro307=)
c.840T>A (p.Pro280=)
c.546T>A (p.Pro182=)
c.927T>A (p.Pro309=)
2g.48688616G>ACA346748926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1181C>T (p.Pro394Leu)
c.948-477C>T (n.948-477C>T)
c.3441+16936G>A (n.3441+16936G>A)
c.948-33C>T (n.948-33C>T)
c.1100C>T (p.Pro367Leu)
c.276+16936G>A (n.276+16936G>A)
c.*220+5608C>T (n.*220+5608C>T)
c.224C>T (p.Pro75Leu)
c.251C>T (p.Pro84Leu)
c.1106C>T (p.Pro369Leu)
c.920C>T (p.Pro307Leu)
c.839C>T (p.Pro280Leu)
c.545C>T (p.Pro182Leu)
c.926C>T (p.Pro309Leu)
2g.48688616G>CCA346748928GTF2A1L,LHCGR,STON1-GTF2A1Lc.1181C>G (p.Pro394Arg)
c.948-477C>G (n.948-477C>G)
c.3441+16936G>C (n.3441+16936G>C)
c.948-33C>G (n.948-33C>G)
c.1100C>G (p.Pro367Arg)
c.276+16936G>C (n.276+16936G>C)
c.*220+5608C>G (n.*220+5608C>G)
c.224C>G (p.Pro75Arg)
c.251C>G (p.Pro84Arg)
c.1106C>G (p.Pro369Arg)
c.920C>G (p.Pro307Arg)
c.839C>G (p.Pro280Arg)
c.545C>G (p.Pro182Arg)
c.926C>G (p.Pro309Arg)
2g.48688616G>TCA346748930GTF2A1L,LHCGR,STON1-GTF2A1Lc.1181C>A (p.Pro394His)
c.948-477C>A (n.948-477C>A)
c.3441+16936G>T (n.3441+16936G>T)
c.948-33C>A (n.948-33C>A)
c.1100C>A (p.Pro367His)
c.276+16936G>T (n.276+16936G>T)
c.*220+5608C>A (n.*220+5608C>A)
c.224C>A (p.Pro75His)
c.251C>A (p.Pro84His)
c.1106C>A (p.Pro369His)
c.920C>A (p.Pro307His)
c.839C>A (p.Pro280His)
c.545C>A (p.Pro182His)
c.926C>A (p.Pro309His)
2g.48688617G>ACA346748932GTF2A1L,LHCGR,STON1-GTF2A1Lc.1180C>T (p.Pro394Ser)
c.948-478C>T (n.948-478C>T)
c.3441+16937G>A (n.3441+16937G>A)
c.948-34C>T (n.948-34C>T)
c.1099C>T (p.Pro367Ser)
c.276+16937G>A (n.276+16937G>A)
c.*220+5607C>T (n.*220+5607C>T)
c.223C>T (p.Pro75Ser)
c.250C>T (p.Pro84Ser)
c.1105C>T (p.Pro369Ser)
c.919C>T (p.Pro307Ser)
c.838C>T (p.Pro280Ser)
c.544C>T (p.Pro182Ser)
c.925C>T (p.Pro309Ser)
2g.48688617G>CCA346748935GTF2A1L,LHCGR,STON1-GTF2A1Lc.1180C>G (p.Pro394Ala)
c.948-478C>G (n.948-478C>G)
c.3441+16937G>C (n.3441+16937G>C)
c.948-34C>G (n.948-34C>G)
c.1099C>G (p.Pro367Ala)
c.276+16937G>C (n.276+16937G>C)
c.*220+5607C>G (n.*220+5607C>G)
c.223C>G (p.Pro75Ala)
c.250C>G (p.Pro84Ala)
c.1105C>G (p.Pro369Ala)
c.919C>G (p.Pro307Ala)
c.838C>G (p.Pro280Ala)
c.544C>G (p.Pro182Ala)
c.925C>G (p.Pro309Ala)
2g.48688617G>TCA346748938GTF2A1L,LHCGR,STON1-GTF2A1Lc.1180C>A (p.Pro394Thr)
c.948-478C>A (n.948-478C>A)
c.3441+16937G>T (n.3441+16937G>T)
c.948-34C>A (n.948-34C>A)
c.1099C>A (p.Pro367Thr)
c.276+16937G>T (n.276+16937G>T)
c.*220+5607C>A (n.*220+5607C>A)
c.223C>A (p.Pro75Thr)
c.250C>A (p.Pro84Thr)
c.1105C>A (p.Pro369Thr)
c.919C>A (p.Pro307Thr)
c.838C>A (p.Pro280Thr)
c.544C>A (p.Pro182Thr)
c.925C>A (p.Pro309Thr)
2g.48688618C>ACA426124577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1179G>T (p.Val393=)
c.948-479G>T (n.948-479G>T)
c.3441+16938C>A (n.3441+16938C>A)
c.948-35G>T (n.948-35G>T)
c.1098G>T (p.Val366=)
c.276+16938C>A (n.276+16938C>A)
c.*220+5606G>T (n.*220+5606G>T)
c.222G>T (p.Val74=)
c.249G>T (p.Val83=)
c.1104G>T (p.Val368=)
c.918G>T (p.Val306=)
c.837G>T (p.Val279=)
c.543G>T (p.Val181=)
c.924G>T (p.Val308=)
2g.48688618C>GCA426124578GTF2A1L,LHCGR,STON1-GTF2A1Lc.1179G>C (p.Val393=)
c.948-479G>C (n.948-479G>C)
c.3441+16938C>G (n.3441+16938C>G)
c.948-35G>C (n.948-35G>C)
c.1098G>C (p.Val366=)
c.276+16938C>G (n.276+16938C>G)
c.*220+5606G>C (n.*220+5606G>C)
c.222G>C (p.Val74=)
c.249G>C (p.Val83=)
c.1104G>C (p.Val368=)
c.918G>C (p.Val306=)
c.837G>C (p.Val279=)
c.543G>C (p.Val181=)
c.924G>C (p.Val308=)
2g.48688618C>TCA426124579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1179G>A (p.Val393=)
c.948-479G>A (n.948-479G>A)
c.3441+16938C>T (n.3441+16938C>T)
c.948-35G>A (n.948-35G>A)
c.1098G>A (p.Val366=)
c.276+16938C>T (n.276+16938C>T)
c.*220+5606G>A (n.*220+5606G>A)
c.222G>A (p.Val74=)
c.249G>A (p.Val83=)
c.1104G>A (p.Val368=)
c.918G>A (p.Val306=)
c.837G>A (p.Val279=)
c.543G>A (p.Val181=)
c.924G>A (p.Val308=)
2g.48688619A=CA1248601205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1178T= (p.Val393=)
c.948-480T= (n.948-480T=)
c.3441+16939A= (n.3441+16939A=)
c.948-36T= (n.948-36T=)
c.1097T= (p.Val366=)
c.276+16939A= (n.276+16939A=)
c.*220+5605T= (n.*220+5605T=)
c.221T= (p.Val74=)
c.248T= (p.Val83=)
c.1103T= (p.Val368=)
c.917T= (p.Val306=)
c.836T= (p.Val279=)
c.542T= (p.Val181=)
c.923T= (p.Val308=)
2g.48688619A>CCA346748944GTF2A1L,LHCGR,STON1-GTF2A1Lc.1178T>G (p.Val393Gly)
c.948-480T>G (n.948-480T>G)
c.3441+16939A>C (n.3441+16939A>C)
c.948-36T>G (n.948-36T>G)
c.1097T>G (p.Val366Gly)
c.276+16939A>C (n.276+16939A>C)
c.*220+5605T>G (n.*220+5605T>G)
c.221T>G (p.Val74Gly)
c.248T>G (p.Val83Gly)
c.1103T>G (p.Val368Gly)
c.917T>G (p.Val306Gly)
c.836T>G (p.Val279Gly)
c.542T>G (p.Val181Gly)
c.923T>G (p.Val308Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688619A>GCA346748941GTF2A1L,LHCGR,STON1-GTF2A1Lc.1178T>C (p.Val393Ala)
c.948-480T>C (n.948-480T>C)
c.3441+16939A>G (n.3441+16939A>G)
c.948-36T>C (n.948-36T>C)
c.1097T>C (p.Val366Ala)
c.276+16939A>G (n.276+16939A>G)
c.*220+5605T>C (n.*220+5605T>C)
c.221T>C (p.Val74Ala)
c.248T>C (p.Val83Ala)
c.1103T>C (p.Val368Ala)
c.917T>C (p.Val306Ala)
c.836T>C (p.Val279Ala)
c.542T>C (p.Val181Ala)
c.923T>C (p.Val308Ala)
2g.48688619A>TCA346748940GTF2A1L,LHCGR,STON1-GTF2A1Lc.1178T>A (p.Val393Glu)
c.948-480T>A (n.948-480T>A)
c.3441+16939A>T (n.3441+16939A>T)
c.948-36T>A (n.948-36T>A)
c.1097T>A (p.Val366Glu)
c.276+16939A>T (n.276+16939A>T)
c.*220+5605T>A (n.*220+5605T>A)
c.221T>A (p.Val74Glu)
c.248T>A (p.Val83Glu)
c.1103T>A (p.Val368Glu)
c.917T>A (p.Val306Glu)
c.836T>A (p.Val279Glu)
c.542T>A (p.Val181Glu)
c.923T>A (p.Val308Glu)
2g.48688620C>ACA346748947GTF2A1L,LHCGR,STON1-GTF2A1Lc.1177G>T (p.Val393Leu)
c.948-481G>T (n.948-481G>T)
c.3441+16940C>A (n.3441+16940C>A)
c.948-37G>T (n.948-37G>T)
c.1096G>T (p.Val366Leu)
c.276+16940C>A (n.276+16940C>A)
c.*220+5604G>T (n.*220+5604G>T)
c.220G>T (p.Val74Leu)
c.247G>T (p.Val83Leu)
c.1102G>T (p.Val368Leu)
c.916G>T (p.Val306Leu)
c.835G>T (p.Val279Leu)
c.541G>T (p.Val181Leu)
c.922G>T (p.Val308Leu)
2g.48688620C=CA1248601206GTF2A1L,LHCGR,STON1-GTF2A1Lc.1177G= (p.Val393=)
c.948-481G= (n.948-481G=)
c.3441+16940C= (n.3441+16940C=)
c.948-37G= (n.948-37G=)
c.1096G= (p.Val366=)
c.276+16940C= (n.276+16940C=)
c.*220+5604G= (n.*220+5604G=)
c.220G= (p.Val74=)
c.247G= (p.Val83=)
c.1102G= (p.Val368=)
c.916G= (p.Val306=)
c.835G= (p.Val279=)
c.541G= (p.Val181=)
c.922G= (p.Val308=)
2g.48688620C>GCA346748954GTF2A1L,LHCGR,STON1-GTF2A1Lc.1177G>C (p.Val393Leu)
c.948-481G>C (n.948-481G>C)
c.3441+16940C>G (n.3441+16940C>G)
c.948-37G>C (n.948-37G>C)
c.1096G>C (p.Val366Leu)
c.276+16940C>G (n.276+16940C>G)
c.*220+5604G>C (n.*220+5604G>C)
c.220G>C (p.Val74Leu)
c.247G>C (p.Val83Leu)
c.1102G>C (p.Val368Leu)
c.916G>C (p.Val306Leu)
c.835G>C (p.Val279Leu)
c.541G>C (p.Val181Leu)
c.922G>C (p.Val308Leu)
2g.48688620C>TCA1653069GTF2A1L,LHCGR,STON1-GTF2A1Lc.1177G>A (p.Val393Met)
c.948-481G>A (n.948-481G>A)
c.3441+16940C>T (n.3441+16940C>T)
c.948-37G>A (n.948-37G>A)
c.1096G>A (p.Val366Met)
c.276+16940C>T (n.276+16940C>T)
c.*220+5604G>A (n.*220+5604G>A)
c.220G>A (p.Val74Met)
c.247G>A (p.Val83Met)
c.1102G>A (p.Val368Met)
c.916G>A (p.Val306Met)
c.835G>A (p.Val279Met)
c.541G>A (p.Val181Met)
c.922G>A (p.Val308Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688621T>ACA426124580GTF2A1L,LHCGR,STON1-GTF2A1Lc.1176A>T (p.Thr392=)
c.948-482A>T (n.948-482A>T)
c.3441+16941T>A (n.3441+16941T>A)
c.948-38A>T (n.948-38A>T)
c.1095A>T (p.Thr365=)
c.276+16941T>A (n.276+16941T>A)
c.*220+5603A>T (n.*220+5603A>T)
c.219A>T (p.Thr73=)
c.246A>T (p.Thr82=)
c.1101A>T (p.Thr367=)
c.915A>T (p.Thr305=)
c.834A>T (p.Thr278=)
c.540A>T (p.Thr180=)
c.921A>T (p.Thr307=)
 gnomAD v4
2g.48688621T>CCA426124581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1176A>G (p.Thr392=)
c.948-482A>G (n.948-482A>G)
c.3441+16941T>C (n.3441+16941T>C)
c.948-38A>G (n.948-38A>G)
c.1095A>G (p.Thr365=)
c.276+16941T>C (n.276+16941T>C)
c.*220+5603A>G (n.*220+5603A>G)
c.219A>G (p.Thr73=)
c.246A>G (p.Thr82=)
c.1101A>G (p.Thr367=)
c.915A>G (p.Thr305=)
c.834A>G (p.Thr278=)
c.540A>G (p.Thr180=)
c.921A>G (p.Thr307=)
 dbSNP
2g.48688621T>GCA426124582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1176A>C (p.Thr392=)
c.948-482A>C (n.948-482A>C)
c.3441+16941T>G (n.3441+16941T>G)
c.948-38A>C (n.948-38A>C)
c.1095A>C (p.Thr365=)
c.276+16941T>G (n.276+16941T>G)
c.*220+5603A>C (n.*220+5603A>C)
c.219A>C (p.Thr73=)
c.246A>C (p.Thr82=)
c.1101A>C (p.Thr367=)
c.915A>C (p.Thr305=)
c.834A>C (p.Thr278=)
c.540A>C (p.Thr180=)
c.921A>C (p.Thr307=)
 gnomAD v4
2g.48688621T=CA1248601207GTF2A1L,LHCGR,STON1-GTF2A1Lc.1176A= (p.Thr392=)
c.948-482A= (n.948-482A=)
c.3441+16941T= (n.3441+16941T=)
c.948-38A= (n.948-38A=)
c.1095A= (p.Thr365=)
c.276+16941T= (n.276+16941T=)
c.*220+5603A= (n.*220+5603A=)
c.219A= (p.Thr73=)
c.246A= (p.Thr82=)
c.1101A= (p.Thr367=)
c.915A= (p.Thr305=)
c.834A= (p.Thr278=)
c.540A= (p.Thr180=)
c.921A= (p.Thr307=)
2g.48688622G>ACA346748956GTF2A1L,LHCGR,STON1-GTF2A1Lc.1175C>T (p.Thr392Ile)
c.948-483C>T (n.948-483C>T)
c.3441+16942G>A (n.3441+16942G>A)
c.948-39C>T (n.948-39C>T)
c.1094C>T (p.Thr365Ile)
c.276+16942G>A (n.276+16942G>A)
c.*220+5602C>T (n.*220+5602C>T)
c.218C>T (p.Thr73Ile)
c.245C>T (p.Thr82Ile)
c.1100C>T (p.Thr367Ile)
c.914C>T (p.Thr305Ile)
c.833C>T (p.Thr278Ile)
c.539C>T (p.Thr180Ile)
c.920C>T (p.Thr307Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.48688622G>CCA346748957GTF2A1L,LHCGR,STON1-GTF2A1Lc.1175C>G (p.Thr392Arg)
c.948-483C>G (n.948-483C>G)
c.3441+16942G>C (n.3441+16942G>C)
c.948-39C>G (n.948-39C>G)
c.1094C>G (p.Thr365Arg)
c.276+16942G>C (n.276+16942G>C)
c.*220+5602C>G (n.*220+5602C>G)
c.218C>G (p.Thr73Arg)
c.245C>G (p.Thr82Arg)
c.1100C>G (p.Thr367Arg)
c.914C>G (p.Thr305Arg)
c.833C>G (p.Thr278Arg)
c.539C>G (p.Thr180Arg)
c.920C>G (p.Thr307Arg)
2g.48688622G=CA1248601208GTF2A1L,LHCGR,STON1-GTF2A1Lc.1175C= (p.Thr392=)
c.948-483C= (n.948-483C=)
c.3441+16942G= (n.3441+16942G=)
c.948-39C= (n.948-39C=)
c.1094C= (p.Thr365=)
c.276+16942G= (n.276+16942G=)
c.*220+5602C= (n.*220+5602C=)
c.218C= (p.Thr73=)
c.245C= (p.Thr82=)
c.1100C= (p.Thr367=)
c.914C= (p.Thr305=)
c.833C= (p.Thr278=)
c.539C= (p.Thr180=)
c.920C= (p.Thr307=)
2g.48688622G>TCA346748958GTF2A1L,LHCGR,STON1-GTF2A1Lc.1175C>A (p.Thr392Lys)
c.948-483C>A (n.948-483C>A)
c.3441+16942G>T (n.3441+16942G>T)
c.948-39C>A (n.948-39C>A)
c.1094C>A (p.Thr365Lys)
c.276+16942G>T (n.276+16942G>T)
c.*220+5602C>A (n.*220+5602C>A)
c.218C>A (p.Thr73Lys)
c.245C>A (p.Thr82Lys)
c.1100C>A (p.Thr367Lys)
c.914C>A (p.Thr305Lys)
c.833C>A (p.Thr278Lys)
c.539C>A (p.Thr180Lys)
c.920C>A (p.Thr307Lys)
 dbSNP
2g.48688623T>ACA346748959GTF2A1L,LHCGR,STON1-GTF2A1Lc.1174A>T (p.Thr392Ser)
c.948-484A>T (n.948-484A>T)
c.3441+16943T>A (n.3441+16943T>A)
c.948-40A>T (n.948-40A>T)
c.1093A>T (p.Thr365Ser)
c.276+16943T>A (n.276+16943T>A)
c.*220+5601A>T (n.*220+5601A>T)
c.217A>T (p.Thr73Ser)
c.244A>T (p.Thr82Ser)
c.1099A>T (p.Thr367Ser)
c.913A>T (p.Thr305Ser)
c.832A>T (p.Thr278Ser)
c.538A>T (p.Thr180Ser)
c.919A>T (p.Thr307Ser)
 gnomAD v4
2g.48688623T>CCA346748962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1174A>G (p.Thr392Ala)
c.948-484A>G (n.948-484A>G)
c.3441+16943T>C (n.3441+16943T>C)
c.948-40A>G (n.948-40A>G)
c.1093A>G (p.Thr365Ala)
c.276+16943T>C (n.276+16943T>C)
c.*220+5601A>G (n.*220+5601A>G)
c.217A>G (p.Thr73Ala)
c.244A>G (p.Thr82Ala)
c.1099A>G (p.Thr367Ala)
c.913A>G (p.Thr305Ala)
c.832A>G (p.Thr278Ala)
c.538A>G (p.Thr180Ala)
c.919A>G (p.Thr307Ala)
2g.48688623T>GCA346748964GTF2A1L,LHCGR,STON1-GTF2A1Lc.1174A>C (p.Thr392Pro)
c.948-484A>C (n.948-484A>C)
c.3441+16943T>G (n.3441+16943T>G)
c.948-40A>C (n.948-40A>C)
c.1093A>C (p.Thr365Pro)
c.276+16943T>G (n.276+16943T>G)
c.*220+5601A>C (n.*220+5601A>C)
c.217A>C (p.Thr73Pro)
c.244A>C (p.Thr82Pro)
c.1099A>C (p.Thr367Pro)
c.913A>C (p.Thr305Pro)
c.832A>C (p.Thr278Pro)
c.538A>C (p.Thr180Pro)
c.919A>C (p.Thr307Pro)
2g.48688624A=CA1248601209GTF2A1L,LHCGR,STON1-GTF2A1Lc.1173T= (p.Leu391=)
c.948-485T= (n.948-485T=)
c.3441+16944A= (n.3441+16944A=)
c.948-41T= (n.948-41T=)
c.1092T= (p.Leu364=)
c.276+16944A= (n.276+16944A=)
c.*220+5600T= (n.*220+5600T=)
c.216T= (p.Leu72=)
c.243T= (p.Leu81=)
c.1098T= (p.Leu366=)
c.912T= (p.Leu304=)
c.831T= (p.Leu277=)
c.537T= (p.Leu179=)
c.918T= (p.Leu306=)
2g.48688624A>CCA426124583GTF2A1L,LHCGR,STON1-GTF2A1Lc.1173T>G (p.Leu391=)
c.948-485T>G (n.948-485T>G)
c.3441+16944A>C (n.3441+16944A>C)
c.948-41T>G (n.948-41T>G)
c.1092T>G (p.Leu364=)
c.276+16944A>C (n.276+16944A>C)
c.*220+5600T>G (n.*220+5600T>G)
c.216T>G (p.Leu72=)
c.243T>G (p.Leu81=)
c.1098T>G (p.Leu366=)
c.912T>G (p.Leu304=)
c.831T>G (p.Leu277=)
c.537T>G (p.Leu179=)
c.918T>G (p.Leu306=)
 gnomAD v4
2g.48688624A>GCA426124584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1173T>C (p.Leu391=)
c.948-485T>C (n.948-485T>C)
c.3441+16944A>G (n.3441+16944A>G)
c.948-41T>C (n.948-41T>C)
c.1092T>C (p.Leu364=)
c.276+16944A>G (n.276+16944A>G)
c.*220+5600T>C (n.*220+5600T>C)
c.216T>C (p.Leu72=)
c.243T>C (p.Leu81=)
c.1098T>C (p.Leu366=)
c.912T>C (p.Leu304=)
c.831T>C (p.Leu277=)
c.537T>C (p.Leu179=)
c.918T>C (p.Leu306=)
2g.48688624A>TCA426124585GTF2A1L,LHCGR,STON1-GTF2A1Lc.1173T>A (p.Leu391=)
c.948-485T>A (n.948-485T>A)
c.3441+16944A>T (n.3441+16944A>T)
c.948-41T>A (n.948-41T>A)
c.1092T>A (p.Leu364=)
c.276+16944A>T (n.276+16944A>T)
c.*220+5600T>A (n.*220+5600T>A)
c.216T>A (p.Leu72=)
c.243T>A (p.Leu81=)
c.1098T>A (p.Leu366=)
c.912T>A (p.Leu304=)
c.831T>A (p.Leu277=)
c.537T>A (p.Leu179=)
c.918T>A (p.Leu306=)
 dbSNP
2g.48688625A>CCA346748967GTF2A1L,LHCGR,STON1-GTF2A1Lc.1172T>G (p.Leu391Arg)
c.948-486T>G (n.948-486T>G)
c.3441+16945A>C (n.3441+16945A>C)
c.948-42T>G (n.948-42T>G)
c.1091T>G (p.Leu364Arg)
c.276+16945A>C (n.276+16945A>C)
c.*220+5599T>G (n.*220+5599T>G)
c.215T>G (p.Leu72Arg)
c.242T>G (p.Leu81Arg)
c.1097T>G (p.Leu366Arg)
c.911T>G (p.Leu304Arg)
c.830T>G (p.Leu277Arg)
c.536T>G (p.Leu179Arg)
c.917T>G (p.Leu306Arg)
2g.48688625A>GCA346748972GTF2A1L,LHCGR,STON1-GTF2A1Lc.1172T>C (p.Leu391Pro)
c.948-486T>C (n.948-486T>C)
c.3441+16945A>G (n.3441+16945A>G)
c.948-42T>C (n.948-42T>C)
c.1091T>C (p.Leu364Pro)
c.276+16945A>G (n.276+16945A>G)
c.*220+5599T>C (n.*220+5599T>C)
c.215T>C (p.Leu72Pro)
c.242T>C (p.Leu81Pro)
c.1097T>C (p.Leu366Pro)
c.911T>C (p.Leu304Pro)
c.830T>C (p.Leu277Pro)
c.536T>C (p.Leu179Pro)
c.917T>C (p.Leu306Pro)
2g.48688625A>TCA346748974GTF2A1L,LHCGR,STON1-GTF2A1Lc.1172T>A (p.Leu391His)
c.948-486T>A (n.948-486T>A)
c.3441+16945A>T (n.3441+16945A>T)
c.948-42T>A (n.948-42T>A)
c.1091T>A (p.Leu364His)
c.276+16945A>T (n.276+16945A>T)
c.*220+5599T>A (n.*220+5599T>A)
c.215T>A (p.Leu72His)
c.242T>A (p.Leu81His)
c.1097T>A (p.Leu366His)
c.911T>A (p.Leu304His)
c.830T>A (p.Leu277His)
c.536T>A (p.Leu179His)
c.917T>A (p.Leu306His)
2g.48688626G>ACA346748977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1171C>T (p.Leu391Phe)
c.948-487C>T (n.948-487C>T)
c.3441+16946G>A (n.3441+16946G>A)
c.948-43C>T (n.948-43C>T)
c.1090C>T (p.Leu364Phe)
c.276+16946G>A (n.276+16946G>A)
c.*220+5598C>T (n.*220+5598C>T)
c.214C>T (p.Leu72Phe)
c.241C>T (p.Leu81Phe)
c.1096C>T (p.Leu366Phe)
c.910C>T (p.Leu304Phe)
c.829C>T (p.Leu277Phe)
c.535C>T (p.Leu179Phe)
c.916C>T (p.Leu306Phe)
 gnomAD v4
2g.48688626G>CCA346748981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1171C>G (p.Leu391Val)
c.948-487C>G (n.948-487C>G)
c.3441+16946G>C (n.3441+16946G>C)
c.948-43C>G (n.948-43C>G)
c.1090C>G (p.Leu364Val)
c.276+16946G>C (n.276+16946G>C)
c.*220+5598C>G (n.*220+5598C>G)
c.214C>G (p.Leu72Val)
c.241C>G (p.Leu81Val)
c.1096C>G (p.Leu366Val)
c.910C>G (p.Leu304Val)
c.829C>G (p.Leu277Val)
c.535C>G (p.Leu179Val)
c.916C>G (p.Leu306Val)
 gnomAD v4
2g.48688626G>TCA346748979GTF2A1L,LHCGR,STON1-GTF2A1Lc.1171C>A (p.Leu391Ile)
c.948-487C>A (n.948-487C>A)
c.3441+16946G>T (n.3441+16946G>T)
c.948-43C>A (n.948-43C>A)
c.1090C>A (p.Leu364Ile)
c.276+16946G>T (n.276+16946G>T)
c.*220+5598C>A (n.*220+5598C>A)
c.214C>A (p.Leu72Ile)
c.241C>A (p.Leu81Ile)
c.1096C>A (p.Leu366Ile)
c.910C>A (p.Leu304Ile)
c.829C>A (p.Leu277Ile)
c.535C>A (p.Leu179Ile)
c.916C>A (p.Leu306Ile)
2g.48688627T>ACA346748984GTF2A1L,LHCGR,STON1-GTF2A1Lc.1170A>T (p.Lys390Asn)
c.948-488A>T (n.948-488A>T)
c.3441+16947T>A (n.3441+16947T>A)
c.948-44A>T (n.948-44A>T)
c.1089A>T (p.Lys363Asn)
c.276+16947T>A (n.276+16947T>A)
c.*220+5597A>T (n.*220+5597A>T)
c.213A>T (p.Lys71Asn)
c.240A>T (p.Lys80Asn)
c.1095A>T (p.Lys365Asn)
c.909A>T (p.Lys303Asn)
c.828A>T (p.Lys276Asn)
c.534A>T (p.Lys178Asn)
c.915A>T (p.Lys305Asn)
2g.48688627T>CCA426124586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1170A>G (p.Lys390=)
c.948-488A>G (n.948-488A>G)
c.3441+16947T>C (n.3441+16947T>C)
c.948-44A>G (n.948-44A>G)
c.1089A>G (p.Lys363=)
c.276+16947T>C (n.276+16947T>C)
c.*220+5597A>G (n.*220+5597A>G)
c.213A>G (p.Lys71=)
c.240A>G (p.Lys80=)
c.1095A>G (p.Lys365=)
c.909A>G (p.Lys303=)
c.828A>G (p.Lys276=)
c.534A>G (p.Lys178=)
c.915A>G (p.Lys305=)
2g.48688627T>GCA346748986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1170A>C (p.Lys390Asn)
c.948-488A>C (n.948-488A>C)
c.3441+16947T>G (n.3441+16947T>G)
c.948-44A>C (n.948-44A>C)
c.1089A>C (p.Lys363Asn)
c.276+16947T>G (n.276+16947T>G)
c.*220+5597A>C (n.*220+5597A>C)
c.213A>C (p.Lys71Asn)
c.240A>C (p.Lys80Asn)
c.1095A>C (p.Lys365Asn)
c.909A>C (p.Lys303Asn)
c.828A>C (p.Lys276Asn)
c.534A>C (p.Lys178Asn)
c.915A>C (p.Lys305Asn)
2g.48688628T>ACA346748988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1169A>T (p.Lys390Ile)
c.948-489A>T (n.948-489A>T)
c.3441+16948T>A (n.3441+16948T>A)
c.948-45A>T (n.948-45A>T)
c.1088A>T (p.Lys363Ile)
c.276+16948T>A (n.276+16948T>A)
c.*220+5596A>T (n.*220+5596A>T)
c.212A>T (p.Lys71Ile)
c.239A>T (p.Lys80Ile)
c.1094A>T (p.Lys365Ile)
c.908A>T (p.Lys303Ile)
c.827A>T (p.Lys276Ile)
c.533A>T (p.Lys178Ile)
c.914A>T (p.Lys305Ile)
2g.48688628T>CCA1653070GTF2A1L,LHCGR,STON1-GTF2A1Lc.1169A>G (p.Lys390Arg)
c.948-489A>G (n.948-489A>G)
c.3441+16948T>C (n.3441+16948T>C)
c.948-45A>G (n.948-45A>G)
c.1088A>G (p.Lys363Arg)
c.276+16948T>C (n.276+16948T>C)
c.*220+5596A>G (n.*220+5596A>G)
c.212A>G (p.Lys71Arg)
c.239A>G (p.Lys80Arg)
c.1094A>G (p.Lys365Arg)
c.908A>G (p.Lys303Arg)
c.827A>G (p.Lys276Arg)
c.533A>G (p.Lys178Arg)
c.914A>G (p.Lys305Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688628T>GCA346748989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1169A>C (p.Lys390Thr)
c.948-489A>C (n.948-489A>C)
c.3441+16948T>G (n.3441+16948T>G)
c.948-45A>C (n.948-45A>C)
c.1088A>C (p.Lys363Thr)
c.276+16948T>G (n.276+16948T>G)
c.*220+5596A>C (n.*220+5596A>C)
c.212A>C (p.Lys71Thr)
c.239A>C (p.Lys80Thr)
c.1094A>C (p.Lys365Thr)
c.908A>C (p.Lys303Thr)
c.827A>C (p.Lys276Thr)
c.533A>C (p.Lys178Thr)
c.914A>C (p.Lys305Thr)
2g.48688628T=CA1248601210GTF2A1L,LHCGR,STON1-GTF2A1Lc.1169A= (p.Lys390=)
c.948-489A= (n.948-489A=)
c.3441+16948T= (n.3441+16948T=)
c.948-45A= (n.948-45A=)
c.1088A= (p.Lys363=)
c.276+16948T= (n.276+16948T=)
c.*220+5596A= (n.*220+5596A=)
c.212A= (p.Lys71=)
c.239A= (p.Lys80=)
c.1094A= (p.Lys365=)
c.908A= (p.Lys303=)
c.827A= (p.Lys276=)
c.533A= (p.Lys178=)
c.914A= (p.Lys305=)
2g.48688629T>ACA346748993GTF2A1L,LHCGR,STON1-GTF2A1Lc.1168A>T (p.Lys390Ter)
c.948-490A>T (n.948-490A>T)
c.3441+16949T>A (n.3441+16949T>A)
c.948-46A>T (n.948-46A>T)
c.1087A>T (p.Lys363Ter)
c.276+16949T>A (n.276+16949T>A)
c.*220+5595A>T (n.*220+5595A>T)
c.211A>T (p.Lys71Ter)
c.238A>T (p.Lys80Ter)
c.1093A>T (p.Lys365Ter)
c.907A>T (p.Lys303Ter)
c.826A>T (p.Lys276Ter)
c.532A>T (p.Lys178Ter)
c.913A>T (p.Lys305Ter)
2g.48688629T>CCA346748998GTF2A1L,LHCGR,STON1-GTF2A1Lc.1168A>G (p.Lys390Glu)
c.948-490A>G (n.948-490A>G)
c.3441+16949T>C (n.3441+16949T>C)
c.948-46A>G (n.948-46A>G)
c.1087A>G (p.Lys363Glu)
c.276+16949T>C (n.276+16949T>C)
c.*220+5595A>G (n.*220+5595A>G)
c.211A>G (p.Lys71Glu)
c.238A>G (p.Lys80Glu)
c.1093A>G (p.Lys365Glu)
c.907A>G (p.Lys303Glu)
c.826A>G (p.Lys276Glu)
c.532A>G (p.Lys178Glu)
c.913A>G (p.Lys305Glu)
2g.48688629T>GCA346749000GTF2A1L,LHCGR,STON1-GTF2A1Lc.1168A>C (p.Lys390Gln)
c.948-490A>C (n.948-490A>C)
c.3441+16949T>G (n.3441+16949T>G)
c.948-46A>C (n.948-46A>C)
c.1087A>C (p.Lys363Gln)
c.276+16949T>G (n.276+16949T>G)
c.*220+5595A>C (n.*220+5595A>C)
c.211A>C (p.Lys71Gln)
c.238A>C (p.Lys80Gln)
c.1093A>C (p.Lys365Gln)
c.907A>C (p.Lys303Gln)
c.826A>C (p.Lys276Gln)
c.532A>C (p.Lys178Gln)
c.913A>C (p.Lys305Gln)
2g.48688630G>ACA426124587GTF2A1L,LHCGR,STON1-GTF2A1Lc.1167C>T (p.Tyr389=)
c.948-491C>T (n.948-491C>T)
c.3441+16950G>A (n.3441+16950G>A)
c.948-47C>T (n.948-47C>T)
c.1086C>T (p.Tyr362=)
c.276+16950G>A (n.276+16950G>A)
c.*220+5594C>T (n.*220+5594C>T)
c.210C>T (p.Tyr70=)
c.237C>T (p.Tyr79=)
c.1092C>T (p.Tyr364=)
c.906C>T (p.Tyr302=)
c.825C>T (p.Tyr275=)
c.531C>T (p.Tyr177=)
c.912C>T (p.Tyr304=)
 dbSNP gnomAD v4
2g.48688630G>CCA346749002GTF2A1L,LHCGR,STON1-GTF2A1Lc.1167C>G (p.Tyr389Ter)
c.948-491C>G (n.948-491C>G)
c.3441+16950G>C (n.3441+16950G>C)
c.948-47C>G (n.948-47C>G)
c.1086C>G (p.Tyr362Ter)
c.276+16950G>C (n.276+16950G>C)
c.*220+5594C>G (n.*220+5594C>G)
c.210C>G (p.Tyr70Ter)
c.237C>G (p.Tyr79Ter)
c.1092C>G (p.Tyr364Ter)
c.906C>G (p.Tyr302Ter)
c.825C>G (p.Tyr275Ter)
c.531C>G (p.Tyr177Ter)
c.912C>G (p.Tyr304Ter)
2g.48688630G=CA1248601211GTF2A1L,LHCGR,STON1-GTF2A1Lc.1167C= (p.Tyr389=)
c.948-491C= (n.948-491C=)
c.3441+16950G= (n.3441+16950G=)
c.948-47C= (n.948-47C=)
c.1086C= (p.Tyr362=)
c.276+16950G= (n.276+16950G=)
c.*220+5594C= (n.*220+5594C=)
c.210C= (p.Tyr70=)
c.237C= (p.Tyr79=)
c.1092C= (p.Tyr364=)
c.906C= (p.Tyr302=)
c.825C= (p.Tyr275=)
c.531C= (p.Tyr177=)
c.912C= (p.Tyr304=)
2g.48688630G>TCA346749004GTF2A1L,LHCGR,STON1-GTF2A1Lc.1167C>A (p.Tyr389Ter)
c.948-491C>A (n.948-491C>A)
c.3441+16950G>T (n.3441+16950G>T)
c.948-47C>A (n.948-47C>A)
c.1086C>A (p.Tyr362Ter)
c.276+16950G>T (n.276+16950G>T)
c.*220+5594C>A (n.*220+5594C>A)
c.210C>A (p.Tyr70Ter)
c.237C>A (p.Tyr79Ter)
c.1092C>A (p.Tyr364Ter)
c.906C>A (p.Tyr302Ter)
c.825C>A (p.Tyr275Ter)
c.531C>A (p.Tyr177Ter)
c.912C>A (p.Tyr304Ter)
 dbSNP
2g.48688631T>ACA346749008GTF2A1L,LHCGR,STON1-GTF2A1Lc.1166A>T (p.Tyr389Phe)
c.948-492A>T (n.948-492A>T)
c.3441+16951T>A (n.3441+16951T>A)
c.948-48A>T (n.948-48A>T)
c.1085A>T (p.Tyr362Phe)
c.276+16951T>A (n.276+16951T>A)
c.*220+5593A>T (n.*220+5593A>T)
c.209A>T (p.Tyr70Phe)
c.236A>T (p.Tyr79Phe)
c.1091A>T (p.Tyr364Phe)
c.905A>T (p.Tyr302Phe)
c.824A>T (p.Tyr275Phe)
c.530A>T (p.Tyr177Phe)
c.911A>T (p.Tyr304Phe)
2g.48688631T>CCA1653071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1166A>G (p.Tyr389Cys)
c.948-492A>G (n.948-492A>G)
c.3441+16951T>C (n.3441+16951T>C)
c.948-48A>G (n.948-48A>G)
c.1085A>G (p.Tyr362Cys)
c.276+16951T>C (n.276+16951T>C)
c.*220+5593A>G (n.*220+5593A>G)
c.209A>G (p.Tyr70Cys)
c.236A>G (p.Tyr79Cys)
c.1091A>G (p.Tyr364Cys)
c.905A>G (p.Tyr302Cys)
c.824A>G (p.Tyr275Cys)
c.530A>G (p.Tyr177Cys)
c.911A>G (p.Tyr304Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688631T>GCA346749015GTF2A1L,LHCGR,STON1-GTF2A1Lc.1166A>C (p.Tyr389Ser)
c.948-492A>C (n.948-492A>C)
c.3441+16951T>G (n.3441+16951T>G)
c.948-48A>C (n.948-48A>C)
c.1085A>C (p.Tyr362Ser)
c.276+16951T>G (n.276+16951T>G)
c.*220+5593A>C (n.*220+5593A>C)
c.209A>C (p.Tyr70Ser)
c.236A>C (p.Tyr79Ser)
c.1091A>C (p.Tyr364Ser)
c.905A>C (p.Tyr302Ser)
c.824A>C (p.Tyr275Ser)
c.530A>C (p.Tyr177Ser)
c.911A>C (p.Tyr304Ser)
2g.48688631T=CA1248601212GTF2A1L,LHCGR,STON1-GTF2A1Lc.1166A= (p.Tyr389=)
c.948-492A= (n.948-492A=)
c.3441+16951T= (n.3441+16951T=)
c.948-48A= (n.948-48A=)
c.1085A= (p.Tyr362=)
c.276+16951T= (n.276+16951T=)
c.*220+5593A= (n.*220+5593A=)
c.209A= (p.Tyr70=)
c.236A= (p.Tyr79=)
c.1091A= (p.Tyr364=)
c.905A= (p.Tyr302=)
c.824A= (p.Tyr275=)
c.530A= (p.Tyr177=)
c.911A= (p.Tyr304=)
2g.48688632A>CCA346749031GTF2A1L,LHCGR,STON1-GTF2A1Lc.1165T>G (p.Tyr389Asp)
c.948-493T>G (n.948-493T>G)
c.3441+16952A>C (n.3441+16952A>C)
c.948-49T>G (n.948-49T>G)
c.1084T>G (p.Tyr362Asp)
c.276+16952A>C (n.276+16952A>C)
c.*220+5592T>G (n.*220+5592T>G)
c.208T>G (p.Tyr70Asp)
c.235T>G (p.Tyr79Asp)
c.1090T>G (p.Tyr364Asp)
c.904T>G (p.Tyr302Asp)
c.823T>G (p.Tyr275Asp)
c.529T>G (p.Tyr177Asp)
c.910T>G (p.Tyr304Asp)
2g.48688632A>GCA346749016GTF2A1L,LHCGR,STON1-GTF2A1Lc.1165T>C (p.Tyr389His)
c.948-493T>C (n.948-493T>C)
c.3441+16952A>G (n.3441+16952A>G)
c.948-49T>C (n.948-49T>C)
c.1084T>C (p.Tyr362His)
c.276+16952A>G (n.276+16952A>G)
c.*220+5592T>C (n.*220+5592T>C)
c.208T>C (p.Tyr70His)
c.235T>C (p.Tyr79His)
c.1090T>C (p.Tyr364His)
c.904T>C (p.Tyr302His)
c.823T>C (p.Tyr275His)
c.529T>C (p.Tyr177His)
c.910T>C (p.Tyr304His)
2g.48688632A>TCA346749028GTF2A1L,LHCGR,STON1-GTF2A1Lc.1165T>A (p.Tyr389Asn)
c.948-493T>A (n.948-493T>A)
c.3441+16952A>T (n.3441+16952A>T)
c.948-49T>A (n.948-49T>A)
c.1084T>A (p.Tyr362Asn)
c.276+16952A>T (n.276+16952A>T)
c.*220+5592T>A (n.*220+5592T>A)
c.208T>A (p.Tyr70Asn)
c.235T>A (p.Tyr79Asn)
c.1090T>A (p.Tyr364Asn)
c.904T>A (p.Tyr302Asn)
c.823T>A (p.Tyr275Asn)
c.529T>A (p.Tyr177Asn)
c.910T>A (p.Tyr304Asn)
2g.48688633A>CCA426124588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1164T>G (p.Arg388=)
c.948-494T>G (n.948-494T>G)
c.3441+16953A>C (n.3441+16953A>C)
c.948-50T>G (n.948-50T>G)
c.1083T>G (p.Arg361=)
c.276+16953A>C (n.276+16953A>C)
c.*220+5591T>G (n.*220+5591T>G)
c.207T>G (p.Arg69=)
c.234T>G (p.Arg78=)
c.1089T>G (p.Arg363=)
c.903T>G (p.Arg301=)
c.822T>G (p.Arg274=)
c.528T>G (p.Arg176=)
c.909T>G (p.Arg303=)
2g.48688633A>GCA426124590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1164T>C (p.Arg388=)
c.948-494T>C (n.948-494T>C)
c.3441+16953A>G (n.3441+16953A>G)
c.948-50T>C (n.948-50T>C)
c.1083T>C (p.Arg361=)
c.276+16953A>G (n.276+16953A>G)
c.*220+5591T>C (n.*220+5591T>C)
c.207T>C (p.Arg69=)
c.234T>C (p.Arg78=)
c.1089T>C (p.Arg363=)
c.903T>C (p.Arg301=)
c.822T>C (p.Arg274=)
c.528T>C (p.Arg176=)
c.909T>C (p.Arg303=)
2g.48688633A>TCA426124589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1164T>A (p.Arg388=)
c.948-494T>A (n.948-494T>A)
c.3441+16953A>T (n.3441+16953A>T)
c.948-50T>A (n.948-50T>A)
c.1083T>A (p.Arg361=)
c.276+16953A>T (n.276+16953A>T)
c.*220+5591T>A (n.*220+5591T>A)
c.207T>A (p.Arg69=)
c.234T>A (p.Arg78=)
c.1089T>A (p.Arg363=)
c.903T>A (p.Arg301=)
c.822T>A (p.Arg274=)
c.528T>A (p.Arg176=)
c.909T>A (p.Arg303=)
2g.48688634C>ACA346749032GTF2A1L,LHCGR,STON1-GTF2A1Lc.1163G>T (p.Arg388Leu)
c.948-495G>T (n.948-495G>T)
c.3441+16954C>A (n.3441+16954C>A)
c.948-51G>T (n.948-51G>T)
c.1082G>T (p.Arg361Leu)
c.276+16954C>A (n.276+16954C>A)
c.*220+5590G>T (n.*220+5590G>T)
c.206G>T (p.Arg69Leu)
c.233G>T (p.Arg78Leu)
c.1088G>T (p.Arg363Leu)
c.902G>T (p.Arg301Leu)
c.821G>T (p.Arg274Leu)
c.527G>T (p.Arg176Leu)
c.908G>T (p.Arg303Leu)
2g.48688634C=CA1248601213GTF2A1L,LHCGR,STON1-GTF2A1Lc.1163G= (p.Arg388=)
c.948-495G= (n.948-495G=)
c.3441+16954C= (n.3441+16954C=)
c.948-51G= (n.948-51G=)
c.1082G= (p.Arg361=)
c.276+16954C= (n.276+16954C=)
c.*220+5590G= (n.*220+5590G=)
c.206G= (p.Arg69=)
c.233G= (p.Arg78=)
c.1088G= (p.Arg363=)
c.902G= (p.Arg301=)
c.821G= (p.Arg274=)
c.527G= (p.Arg176=)
c.908G= (p.Arg303=)
2g.48688634C>GCA346749033GTF2A1L,LHCGR,STON1-GTF2A1Lc.1163G>C (p.Arg388Pro)
c.948-495G>C (n.948-495G>C)
c.3441+16954C>G (n.3441+16954C>G)
c.948-51G>C (n.948-51G>C)
c.1082G>C (p.Arg361Pro)
c.276+16954C>G (n.276+16954C>G)
c.*220+5590G>C (n.*220+5590G>C)
c.206G>C (p.Arg69Pro)
c.233G>C (p.Arg78Pro)
c.1088G>C (p.Arg363Pro)
c.902G>C (p.Arg301Pro)
c.821G>C (p.Arg274Pro)
c.527G>C (p.Arg176Pro)
c.908G>C (p.Arg303Pro)
2g.48688634C>TCA1653072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1163G>A (p.Arg388His)
c.948-495G>A (n.948-495G>A)
c.3441+16954C>T (n.3441+16954C>T)
c.948-51G>A (n.948-51G>A)
c.1082G>A (p.Arg361His)
c.276+16954C>T (n.276+16954C>T)
c.*220+5590G>A (n.*220+5590G>A)
c.206G>A (p.Arg69His)
c.233G>A (p.Arg78His)
c.1088G>A (p.Arg363His)
c.902G>A (p.Arg301His)
c.821G>A (p.Arg274His)
c.527G>A (p.Arg176His)
c.908G>A (p.Arg303His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688635G>ACA46753204GTF2A1L,LHCGR,STON1-GTF2A1Lc.1162C>T (p.Arg388Cys)
c.948-496C>T (n.948-496C>T)
c.3441+16955G>A (n.3441+16955G>A)
c.948-52C>T (n.948-52C>T)
c.1081C>T (p.Arg361Cys)
c.276+16955G>A (n.276+16955G>A)
c.*220+5589C>T (n.*220+5589C>T)
c.205C>T (p.Arg69Cys)
c.232C>T (p.Arg78Cys)
c.1087C>T (p.Arg363Cys)
c.901C>T (p.Arg301Cys)
c.820C>T (p.Arg274Cys)
c.526C>T (p.Arg176Cys)
c.907C>T (p.Arg303Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48688635G>CCA346749038GTF2A1L,LHCGR,STON1-GTF2A1Lc.1162C>G (p.Arg388Gly)
c.948-496C>G (n.948-496C>G)
c.3441+16955G>C (n.3441+16955G>C)
c.948-52C>G (n.948-52C>G)
c.1081C>G (p.Arg361Gly)
c.276+16955G>C (n.276+16955G>C)
c.*220+5589C>G (n.*220+5589C>G)
c.205C>G (p.Arg69Gly)
c.232C>G (p.Arg78Gly)
c.1087C>G (p.Arg363Gly)
c.901C>G (p.Arg301Gly)
c.820C>G (p.Arg274Gly)
c.526C>G (p.Arg176Gly)
c.907C>G (p.Arg303Gly)
2g.48688635G=CA1248601214GTF2A1L,LHCGR,STON1-GTF2A1Lc.1162C= (p.Arg388=)
c.948-496C= (n.948-496C=)
c.3441+16955G= (n.3441+16955G=)
c.948-52C= (n.948-52C=)
c.1081C= (p.Arg361=)
c.276+16955G= (n.276+16955G=)
c.*220+5589C= (n.*220+5589C=)
c.205C= (p.Arg69=)
c.232C= (p.Arg78=)
c.1087C= (p.Arg363=)
c.901C= (p.Arg301=)
c.820C= (p.Arg274=)
c.526C= (p.Arg176=)
c.907C= (p.Arg303=)
2g.48688635G>TCA1653073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1162C>A (p.Arg388Ser)
c.948-496C>A (n.948-496C>A)
c.3441+16955G>T (n.3441+16955G>T)
c.948-52C>A (n.948-52C>A)
c.1081C>A (p.Arg361Ser)
c.276+16955G>T (n.276+16955G>T)
c.*220+5589C>A (n.*220+5589C>A)
c.205C>A (p.Arg69Ser)
c.232C>A (p.Arg78Ser)
c.1087C>A (p.Arg363Ser)
c.901C>A (p.Arg301Ser)
c.820C>A (p.Arg274Ser)
c.526C>A (p.Arg176Ser)
c.907C>A (p.Arg303Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688636A>CCA346749043GTF2A1L,LHCGR,STON1-GTF2A1Lc.1161T>G (p.Ser387Arg)
c.948-497T>G (n.948-497T>G)
c.3441+16956A>C (n.3441+16956A>C)
c.948-53T>G (n.948-53T>G)
c.1080T>G (p.Ser360Arg)
c.276+16956A>C (n.276+16956A>C)
c.*220+5588T>G (n.*220+5588T>G)
c.204T>G (p.Ser68Arg)
c.231T>G (p.Ser77Arg)
c.1086T>G (p.Ser362Arg)
c.900T>G (p.Ser300Arg)
c.819T>G (p.Ser273Arg)
c.525T>G (p.Ser175Arg)
c.906T>G (p.Ser302Arg)
2g.48688636A>GCA426124591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1161T>C (p.Ser387=)
c.948-497T>C (n.948-497T>C)
c.3441+16956A>G (n.3441+16956A>G)
c.948-53T>C (n.948-53T>C)
c.1080T>C (p.Ser360=)
c.276+16956A>G (n.276+16956A>G)
c.*220+5588T>C (n.*220+5588T>C)
c.204T>C (p.Ser68=)
c.231T>C (p.Ser77=)
c.1086T>C (p.Ser362=)
c.900T>C (p.Ser300=)
c.819T>C (p.Ser273=)
c.525T>C (p.Ser175=)
c.906T>C (p.Ser302=)
2g.48688636A>TCA346749046GTF2A1L,LHCGR,STON1-GTF2A1Lc.1161T>A (p.Ser387Arg)
c.948-497T>A (n.948-497T>A)
c.3441+16956A>T (n.3441+16956A>T)
c.948-53T>A (n.948-53T>A)
c.1080T>A (p.Ser360Arg)
c.276+16956A>T (n.276+16956A>T)
c.*220+5588T>A (n.*220+5588T>A)
c.204T>A (p.Ser68Arg)
c.231T>A (p.Ser77Arg)
c.1086T>A (p.Ser362Arg)
c.900T>A (p.Ser300Arg)
c.819T>A (p.Ser273Arg)
c.525T>A (p.Ser175Arg)
c.906T>A (p.Ser302Arg)
2g.48688637C>ACA346749049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1160G>T (p.Ser387Ile)
c.948-498G>T (n.948-498G>T)
c.3441+16957C>A (n.3441+16957C>A)
c.948-54G>T (n.948-54G>T)
c.1079G>T (p.Ser360Ile)
c.276+16957C>A (n.276+16957C>A)
c.*220+5587G>T (n.*220+5587G>T)
c.203G>T (p.Ser68Ile)
c.230G>T (p.Ser77Ile)
c.1085G>T (p.Ser362Ile)
c.899G>T (p.Ser300Ile)
c.818G>T (p.Ser273Ile)
c.524G>T (p.Ser175Ile)
c.905G>T (p.Ser302Ile)
 COSMIC
2g.48688637C=CA1248601215GTF2A1L,LHCGR,STON1-GTF2A1Lc.1160G= (p.Ser387=)
c.948-498G= (n.948-498G=)
c.3441+16957C= (n.3441+16957C=)
c.948-54G= (n.948-54G=)
c.1079G= (p.Ser360=)
c.276+16957C= (n.276+16957C=)
c.*220+5587G= (n.*220+5587G=)
c.203G= (p.Ser68=)
c.230G= (p.Ser77=)
c.1085G= (p.Ser362=)
c.899G= (p.Ser300=)
c.818G= (p.Ser273=)
c.524G= (p.Ser175=)
c.905G= (p.Ser302=)
2g.48688637C>GCA346749060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1160G>C (p.Ser387Thr)
c.948-498G>C (n.948-498G>C)
c.3441+16957C>G (n.3441+16957C>G)
c.948-54G>C (n.948-54G>C)
c.1079G>C (p.Ser360Thr)
c.276+16957C>G (n.276+16957C>G)
c.*220+5587G>C (n.*220+5587G>C)
c.203G>C (p.Ser68Thr)
c.230G>C (p.Ser77Thr)
c.1085G>C (p.Ser362Thr)
c.899G>C (p.Ser300Thr)
c.818G>C (p.Ser273Thr)
c.524G>C (p.Ser175Thr)
c.905G>C (p.Ser302Thr)
2g.48688637C>TCA346749063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1160G>A (p.Ser387Asn)
c.948-498G>A (n.948-498G>A)
c.3441+16957C>T (n.3441+16957C>T)
c.948-54G>A (n.948-54G>A)
c.1079G>A (p.Ser360Asn)
c.276+16957C>T (n.276+16957C>T)
c.*220+5587G>A (n.*220+5587G>A)
c.203G>A (p.Ser68Asn)
c.230G>A (p.Ser77Asn)
c.1085G>A (p.Ser362Asn)
c.899G>A (p.Ser300Asn)
c.818G>A (p.Ser273Asn)
c.524G>A (p.Ser175Asn)
c.905G>A (p.Ser302Asn)
2g.48688638T>ACA346749072GTF2A1L,LHCGR,STON1-GTF2A1Lc.1159A>T (p.Ser387Cys)
c.948-499A>T (n.948-499A>T)
c.3441+16958T>A (n.3441+16958T>A)
c.948-55A>T (n.948-55A>T)
c.1078A>T (p.Ser360Cys)
c.276+16958T>A (n.276+16958T>A)
c.*220+5586A>T (n.*220+5586A>T)
c.202A>T (p.Ser68Cys)
c.229A>T (p.Ser77Cys)
c.1084A>T (p.Ser362Cys)
c.898A>T (p.Ser300Cys)
c.817A>T (p.Ser273Cys)
c.523A>T (p.Ser175Cys)
c.904A>T (p.Ser302Cys)
2g.48688638T>CCA346749073GTF2A1L,LHCGR,STON1-GTF2A1Lc.1159A>G (p.Ser387Gly)
c.948-499A>G (n.948-499A>G)
c.3441+16958T>C (n.3441+16958T>C)
c.948-55A>G (n.948-55A>G)
c.1078A>G (p.Ser360Gly)
c.276+16958T>C (n.276+16958T>C)
c.*220+5586A>G (n.*220+5586A>G)
c.202A>G (p.Ser68Gly)
c.229A>G (p.Ser77Gly)
c.1084A>G (p.Ser362Gly)
c.898A>G (p.Ser300Gly)
c.817A>G (p.Ser273Gly)
c.523A>G (p.Ser175Gly)
c.904A>G (p.Ser302Gly)
2g.48688638T>GCA346749071GTF2A1L,LHCGR,STON1-GTF2A1Lc.1159A>C (p.Ser387Arg)
c.948-499A>C (n.948-499A>C)
c.3441+16958T>G (n.3441+16958T>G)
c.948-55A>C (n.948-55A>C)
c.1078A>C (p.Ser360Arg)
c.276+16958T>G (n.276+16958T>G)
c.*220+5586A>C (n.*220+5586A>C)
c.202A>C (p.Ser68Arg)
c.229A>C (p.Ser77Arg)
c.1084A>C (p.Ser362Arg)
c.898A>C (p.Ser300Arg)
c.817A>C (p.Ser273Arg)
c.523A>C (p.Ser175Arg)
c.904A>C (p.Ser302Arg)
2g.48688639dupCA532706168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1159dup (p.Ser387LysfsTer?)
c.948-499dup (n.948-499dup)
c.3441+16959dup (n.3441+16959dup)
c.948-55dup (n.948-55dup)
c.1078dup (p.Ser360LysfsTer?)
c.276+16959dup (n.276+16959dup)
c.*220+5586dup (n.*220+5586dup)
c.202dup (p.Ser68LysfsTer?)
c.229dup (p.Ser77LysfsTer?)
c.1084dup (p.Ser362LysfsTer?)
c.898dup (p.Ser300LysfsTer?)
c.817dup (p.Ser273LysfsTer?)
c.523dup (p.Ser175LysfsTer?)
c.904dup (p.Ser302LysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.48688639T>ACA426124592GTF2A1L,LHCGR,STON1-GTF2A1Lc.1158A>T (p.Thr386=)
c.948-500A>T (n.948-500A>T)
c.3441+16959T>A (n.3441+16959T>A)
c.948-56A>T (n.948-56A>T)
c.1077A>T (p.Thr359=)
c.276+16959T>A (n.276+16959T>A)
c.*220+5585A>T (n.*220+5585A>T)
c.201A>T (p.Thr67=)
c.228A>T (p.Thr76=)
c.1083A>T (p.Thr361=)
c.897A>T (p.Thr299=)
c.816A>T (p.Thr272=)
c.522A>T (p.Thr174=)
c.903A>T (p.Thr301=)
2g.48688639T>CCA426124593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1158A>G (p.Thr386=)
c.948-500A>G (n.948-500A>G)
c.3441+16959T>C (n.3441+16959T>C)
c.948-56A>G (n.948-56A>G)
c.1077A>G (p.Thr359=)
c.276+16959T>C (n.276+16959T>C)
c.*220+5585A>G (n.*220+5585A>G)
c.201A>G (p.Thr67=)
c.228A>G (p.Thr76=)
c.1083A>G (p.Thr361=)
c.897A>G (p.Thr299=)
c.816A>G (p.Thr272=)
c.522A>G (p.Thr174=)
c.903A>G (p.Thr301=)
 gnomAD v4
2g.48688639T>GCA426124594GTF2A1L,LHCGR,STON1-GTF2A1Lc.1158A>C (p.Thr386=)
c.948-500A>C (n.948-500A>C)
c.3441+16959T>G (n.3441+16959T>G)
c.948-56A>C (n.948-56A>C)
c.1077A>C (p.Thr359=)
c.276+16959T>G (n.276+16959T>G)
c.*220+5585A>C (n.*220+5585A>C)
c.201A>C (p.Thr67=)
c.228A>C (p.Thr76=)
c.1083A>C (p.Thr361=)
c.897A>C (p.Thr299=)
c.816A>C (p.Thr272=)
c.522A>C (p.Thr174=)
c.903A>C (p.Thr301=)
2g.48688640G>ACA346749074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1157C>T (p.Thr386Ile)
c.948-501C>T (n.948-501C>T)
c.3441+16960G>A (n.3441+16960G>A)
c.948-57C>T (n.948-57C>T)
c.1076C>T (p.Thr359Ile)
c.276+16960G>A (n.276+16960G>A)
c.*220+5584C>T (n.*220+5584C>T)
c.200C>T (p.Thr67Ile)
c.227C>T (p.Thr76Ile)
c.1082C>T (p.Thr361Ile)
c.896C>T (p.Thr299Ile)
c.815C>T (p.Thr272Ile)
c.521C>T (p.Thr174Ile)
c.902C>T (p.Thr301Ile)
2g.48688640G>CCA1653075GTF2A1L,LHCGR,STON1-GTF2A1Lc.1157C>G (p.Thr386Arg)
c.948-501C>G (n.948-501C>G)
c.3441+16960G>C (n.3441+16960G>C)
c.948-57C>G (n.948-57C>G)
c.1076C>G (p.Thr359Arg)
c.276+16960G>C (n.276+16960G>C)
c.*220+5584C>G (n.*220+5584C>G)
c.200C>G (p.Thr67Arg)
c.227C>G (p.Thr76Arg)
c.1082C>G (p.Thr361Arg)
c.896C>G (p.Thr299Arg)
c.815C>G (p.Thr272Arg)
c.521C>G (p.Thr174Arg)
c.902C>G (p.Thr301Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688640G=CA1248601216GTF2A1L,LHCGR,STON1-GTF2A1Lc.1157C= (p.Thr386=)
c.948-501C= (n.948-501C=)
c.3441+16960G= (n.3441+16960G=)
c.948-57C= (n.948-57C=)
c.1076C= (p.Thr359=)
c.276+16960G= (n.276+16960G=)
c.*220+5584C= (n.*220+5584C=)
c.200C= (p.Thr67=)
c.227C= (p.Thr76=)
c.1082C= (p.Thr361=)
c.896C= (p.Thr299=)
c.815C= (p.Thr272=)
c.521C= (p.Thr174=)
c.902C= (p.Thr301=)
2g.48688640G>TCA1653074GTF2A1L,LHCGR,STON1-GTF2A1Lc.1157C>A (p.Thr386Lys)
c.948-501C>A (n.948-501C>A)
c.3441+16960G>T (n.3441+16960G>T)
c.948-57C>A (n.948-57C>A)
c.1076C>A (p.Thr359Lys)
c.276+16960G>T (n.276+16960G>T)
c.*220+5584C>A (n.*220+5584C>A)
c.200C>A (p.Thr67Lys)
c.227C>A (p.Thr76Lys)
c.1082C>A (p.Thr361Lys)
c.896C>A (p.Thr299Lys)
c.815C>A (p.Thr272Lys)
c.521C>A (p.Thr174Lys)
c.902C>A (p.Thr301Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688641T>ACA346749078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1156A>T (p.Thr386Ser)
c.948-502A>T (n.948-502A>T)
c.3441+16961T>A (n.3441+16961T>A)
c.948-58A>T (n.948-58A>T)
c.1075A>T (p.Thr359Ser)
c.276+16961T>A (n.276+16961T>A)
c.*220+5583A>T (n.*220+5583A>T)
c.199A>T (p.Thr67Ser)
c.226A>T (p.Thr76Ser)
c.1081A>T (p.Thr361Ser)
c.895A>T (p.Thr299Ser)
c.814A>T (p.Thr272Ser)
c.520A>T (p.Thr174Ser)
c.901A>T (p.Thr301Ser)
2g.48688641T>CCA346749091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1156A>G (p.Thr386Ala)
c.948-502A>G (n.948-502A>G)
c.3441+16961T>C (n.3441+16961T>C)
c.948-58A>G (n.948-58A>G)
c.1075A>G (p.Thr359Ala)
c.276+16961T>C (n.276+16961T>C)
c.*220+5583A>G (n.*220+5583A>G)
c.199A>G (p.Thr67Ala)
c.226A>G (p.Thr76Ala)
c.1081A>G (p.Thr361Ala)
c.895A>G (p.Thr299Ala)
c.814A>G (p.Thr272Ala)
c.520A>G (p.Thr174Ala)
c.901A>G (p.Thr301Ala)
2g.48688641T>GCA346749096GTF2A1L,LHCGR,STON1-GTF2A1Lc.1156A>C (p.Thr386Pro)
c.948-502A>C (n.948-502A>C)
c.3441+16961T>G (n.3441+16961T>G)
c.948-58A>C (n.948-58A>C)
c.1075A>C (p.Thr359Pro)
c.276+16961T>G (n.276+16961T>G)
c.*220+5583A>C (n.*220+5583A>C)
c.199A>C (p.Thr67Pro)
c.226A>C (p.Thr76Pro)
c.1081A>C (p.Thr361Pro)
c.895A>C (p.Thr299Pro)
c.814A>C (p.Thr272Pro)
c.520A>C (p.Thr174Pro)
c.901A>C (p.Thr301Pro)
2g.48688642C>ACA426124596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1155G>T (p.Leu385=)
c.948-503G>T (n.948-503G>T)
c.3441+16962C>A (n.3441+16962C>A)
c.948-59G>T (n.948-59G>T)
c.1074G>T (p.Leu358=)
c.276+16962C>A (n.276+16962C>A)
c.*220+5582G>T (n.*220+5582G>T)
c.198G>T (p.Leu66=)
c.225G>T (p.Leu75=)
c.1080G>T (p.Leu360=)
c.894G>T (p.Leu298=)
c.813G>T (p.Leu271=)
c.519G>T (p.Leu173=)
c.900G>T (p.Leu300=)
2g.48688642C>GCA426124597GTF2A1L,LHCGR,STON1-GTF2A1Lc.1155G>C (p.Leu385=)
c.948-503G>C (n.948-503G>C)
c.3441+16962C>G (n.3441+16962C>G)
c.948-59G>C (n.948-59G>C)
c.1074G>C (p.Leu358=)
c.276+16962C>G (n.276+16962C>G)
c.*220+5582G>C (n.*220+5582G>C)
c.198G>C (p.Leu66=)
c.225G>C (p.Leu75=)
c.1080G>C (p.Leu360=)
c.894G>C (p.Leu298=)
c.813G>C (p.Leu271=)
c.519G>C (p.Leu173=)
c.900G>C (p.Leu300=)
 gnomAD v4
2g.48688642C>TCA426124595GTF2A1L,LHCGR,STON1-GTF2A1Lc.1155G>A (p.Leu385=)
c.948-503G>A (n.948-503G>A)
c.3441+16962C>T (n.3441+16962C>T)
c.948-59G>A (n.948-59G>A)
c.1074G>A (p.Leu358=)
c.276+16962C>T (n.276+16962C>T)
c.*220+5582G>A (n.*220+5582G>A)
c.198G>A (p.Leu66=)
c.225G>A (p.Leu75=)
c.1080G>A (p.Leu360=)
c.894G>A (p.Leu298=)
c.813G>A (p.Leu271=)
c.519G>A (p.Leu173=)
c.900G>A (p.Leu300=)
2g.48688643A=CA1248601217GTF2A1L,LHCGR,STON1-GTF2A1Lc.1154T= (p.Leu385=)
c.948-504T= (n.948-504T=)
c.3441+16963A= (n.3441+16963A=)
c.948-60T= (n.948-60T=)
c.1073T= (p.Leu358=)
c.276+16963A= (n.276+16963A=)
c.*220+5581T= (n.*220+5581T=)
c.197T= (p.Leu66=)
c.224T= (p.Leu75=)
c.1079T= (p.Leu360=)
c.893T= (p.Leu298=)
c.812T= (p.Leu271=)
c.518T= (p.Leu173=)
c.899T= (p.Leu300=)
2g.48688643A>CCA346749104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1154T>G (p.Leu385Arg)
c.948-504T>G (n.948-504T>G)
c.3441+16963A>C (n.3441+16963A>C)
c.948-60T>G (n.948-60T>G)
c.1073T>G (p.Leu358Arg)
c.276+16963A>C (n.276+16963A>C)
c.*220+5581T>G (n.*220+5581T>G)
c.197T>G (p.Leu66Arg)
c.224T>G (p.Leu75Arg)
c.1079T>G (p.Leu360Arg)
c.893T>G (p.Leu298Arg)
c.812T>G (p.Leu271Arg)
c.518T>G (p.Leu173Arg)
c.899T>G (p.Leu300Arg)
2g.48688643A>GCA346749105GTF2A1L,LHCGR,STON1-GTF2A1Lc.1154T>C (p.Leu385Pro)
c.948-504T>C (n.948-504T>C)
c.3441+16963A>G (n.3441+16963A>G)
c.948-60T>C (n.948-60T>C)
c.1073T>C (p.Leu358Pro)
c.276+16963A>G (n.276+16963A>G)
c.*220+5581T>C (n.*220+5581T>C)
c.197T>C (p.Leu66Pro)
c.224T>C (p.Leu75Pro)
c.1079T>C (p.Leu360Pro)
c.893T>C (p.Leu298Pro)
c.812T>C (p.Leu271Pro)
c.518T>C (p.Leu173Pro)
c.899T>C (p.Leu300Pro)
2g.48688643A>TCA46753220GTF2A1L,LHCGR,STON1-GTF2A1Lc.1154T>A (p.Leu385Gln)
c.948-504T>A (n.948-504T>A)
c.3441+16963A>T (n.3441+16963A>T)
c.948-60T>A (n.948-60T>A)
c.1073T>A (p.Leu358Gln)
c.276+16963A>T (n.276+16963A>T)
c.*220+5581T>A (n.*220+5581T>A)
c.197T>A (p.Leu66Gln)
c.224T>A (p.Leu75Gln)
c.1079T>A (p.Leu360Gln)
c.893T>A (p.Leu298Gln)
c.812T>A (p.Leu271Gln)
c.518T>A (p.Leu173Gln)
c.899T>A (p.Leu300Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688644G>ACA426124669GTF2A1L,LHCGR,STON1-GTF2A1Lc.1153C>T (p.Leu385=)
c.948-505C>T (n.948-505C>T)
c.3441+16964G>A (n.3441+16964G>A)
c.948-61C>T (n.948-61C>T)
c.1072C>T (p.Leu358=)
c.276+16964G>A (n.276+16964G>A)
c.*220+5580C>T (n.*220+5580C>T)
c.196C>T (p.Leu66=)
c.223C>T (p.Leu75=)
c.1078C>T (p.Leu360=)
c.892C>T (p.Leu298=)
c.811C>T (p.Leu271=)
c.517C>T (p.Leu173=)
c.898C>T (p.Leu300=)
2g.48688644G>CCA346749109GTF2A1L,LHCGR,STON1-GTF2A1Lc.1153C>G (p.Leu385Val)
c.948-505C>G (n.948-505C>G)
c.3441+16964G>C (n.3441+16964G>C)
c.948-61C>G (n.948-61C>G)
c.1072C>G (p.Leu358Val)
c.276+16964G>C (n.276+16964G>C)
c.*220+5580C>G (n.*220+5580C>G)
c.196C>G (p.Leu66Val)
c.223C>G (p.Leu75Val)
c.1078C>G (p.Leu360Val)
c.892C>G (p.Leu298Val)
c.811C>G (p.Leu271Val)
c.517C>G (p.Leu173Val)
c.898C>G (p.Leu300Val)
2g.48688644G>TCA346749110GTF2A1L,LHCGR,STON1-GTF2A1Lc.1153C>A (p.Leu385Met)
c.948-505C>A (n.948-505C>A)
c.3441+16964G>T (n.3441+16964G>T)
c.948-61C>A (n.948-61C>A)
c.1072C>A (p.Leu358Met)
c.276+16964G>T (n.276+16964G>T)
c.*220+5580C>A (n.*220+5580C>A)
c.196C>A (p.Leu66Met)
c.223C>A (p.Leu75Met)
c.1078C>A (p.Leu360Met)
c.892C>A (p.Leu298Met)
c.811C>A (p.Leu271Met)
c.517C>A (p.Leu173Met)
c.898C>A (p.Leu300Met)
2g.48688645G>ACA426124670GTF2A1L,LHCGR,STON1-GTF2A1Lc.1152C>T (p.Leu384=)
c.948-506C>T (n.948-506C>T)
c.3441+16965G>A (n.3441+16965G>A)
c.948-62C>T (n.948-62C>T)
c.1071C>T (p.Leu357=)
c.276+16965G>A (n.276+16965G>A)
c.*220+5579C>T (n.*220+5579C>T)
c.195C>T (p.Leu65=)
c.222C>T (p.Leu74=)
c.1077C>T (p.Leu359=)
c.891C>T (p.Leu297=)
c.810C>T (p.Leu270=)
c.516C>T (p.Leu172=)
c.897C>T (p.Leu299=)
2g.48688645G>CCA426124671GTF2A1L,LHCGR,STON1-GTF2A1Lc.1152C>G (p.Leu384=)
c.948-506C>G (n.948-506C>G)
c.3441+16965G>C (n.3441+16965G>C)
c.948-62C>G (n.948-62C>G)
c.1071C>G (p.Leu357=)
c.276+16965G>C (n.276+16965G>C)
c.*220+5579C>G (n.*220+5579C>G)
c.195C>G (p.Leu65=)
c.222C>G (p.Leu74=)
c.1077C>G (p.Leu359=)
c.891C>G (p.Leu297=)
c.810C>G (p.Leu270=)
c.516C>G (p.Leu172=)
c.897C>G (p.Leu299=)
2g.48688645G>TCA426124673GTF2A1L,LHCGR,STON1-GTF2A1Lc.1152C>A (p.Leu384=)
c.948-506C>A (n.948-506C>A)
c.3441+16965G>T (n.3441+16965G>T)
c.948-62C>A (n.948-62C>A)
c.1071C>A (p.Leu357=)
c.276+16965G>T (n.276+16965G>T)
c.*220+5579C>A (n.*220+5579C>A)
c.195C>A (p.Leu65=)
c.222C>A (p.Leu74=)
c.1077C>A (p.Leu359=)
c.891C>A (p.Leu297=)
c.810C>A (p.Leu270=)
c.516C>A (p.Leu172=)
c.897C>A (p.Leu299=)
2g.48688646A>CCA346749114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1151T>G (p.Leu384Arg)
c.948-507T>G (n.948-507T>G)
c.3441+16966A>C (n.3441+16966A>C)
c.948-63T>G (n.948-63T>G)
c.1070T>G (p.Leu357Arg)
c.276+16966A>C (n.276+16966A>C)
c.*220+5578T>G (n.*220+5578T>G)
c.194T>G (p.Leu65Arg)
c.221T>G (p.Leu74Arg)
c.1076T>G (p.Leu359Arg)
c.890T>G (p.Leu297Arg)
c.809T>G (p.Leu270Arg)
c.515T>G (p.Leu172Arg)
c.896T>G (p.Leu299Arg)
2g.48688646A>GCA346749132GTF2A1L,LHCGR,STON1-GTF2A1Lc.1151T>C (p.Leu384Pro)
c.948-507T>C (n.948-507T>C)
c.3441+16966A>G (n.3441+16966A>G)
c.948-63T>C (n.948-63T>C)
c.1070T>C (p.Leu357Pro)
c.276+16966A>G (n.276+16966A>G)
c.*220+5578T>C (n.*220+5578T>C)
c.194T>C (p.Leu65Pro)
c.221T>C (p.Leu74Pro)
c.1076T>C (p.Leu359Pro)
c.890T>C (p.Leu297Pro)
c.809T>C (p.Leu270Pro)
c.515T>C (p.Leu172Pro)
c.896T>C (p.Leu299Pro)
 gnomAD v4 COSMIC
2g.48688646A>TCA346749111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1151T>A (p.Leu384His)
c.948-507T>A (n.948-507T>A)
c.3441+16966A>T (n.3441+16966A>T)
c.948-63T>A (n.948-63T>A)
c.1070T>A (p.Leu357His)
c.276+16966A>T (n.276+16966A>T)
c.*220+5578T>A (n.*220+5578T>A)
c.194T>A (p.Leu65His)
c.221T>A (p.Leu74His)
c.1076T>A (p.Leu359His)
c.890T>A (p.Leu297His)
c.809T>A (p.Leu270His)
c.515T>A (p.Leu172His)
c.896T>A (p.Leu299His)
2g.48688647G>ACA346749136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1150C>T (p.Leu384Phe)
c.948-508C>T (n.948-508C>T)
c.3441+16967G>A (n.3441+16967G>A)
c.948-64C>T (n.948-64C>T)
c.1069C>T (p.Leu357Phe)
c.276+16967G>A (n.276+16967G>A)
c.*220+5577C>T (n.*220+5577C>T)
c.193C>T (p.Leu65Phe)
c.220C>T (p.Leu74Phe)
c.1075C>T (p.Leu359Phe)
c.889C>T (p.Leu297Phe)
c.808C>T (p.Leu270Phe)
c.514C>T (p.Leu172Phe)
c.895C>T (p.Leu299Phe)
2g.48688647G>CCA346749138GTF2A1L,LHCGR,STON1-GTF2A1Lc.1150C>G (p.Leu384Val)
c.948-508C>G (n.948-508C>G)
c.3441+16967G>C (n.3441+16967G>C)
c.948-64C>G (n.948-64C>G)
c.1069C>G (p.Leu357Val)
c.276+16967G>C (n.276+16967G>C)
c.*220+5577C>G (n.*220+5577C>G)
c.193C>G (p.Leu65Val)
c.220C>G (p.Leu74Val)
c.1075C>G (p.Leu359Val)
c.889C>G (p.Leu297Val)
c.808C>G (p.Leu270Val)
c.514C>G (p.Leu172Val)
c.895C>G (p.Leu299Val)
2g.48688647G>TCA346749140GTF2A1L,LHCGR,STON1-GTF2A1Lc.1150C>A (p.Leu384Ile)
c.948-508C>A (n.948-508C>A)
c.3441+16967G>T (n.3441+16967G>T)
c.948-64C>A (n.948-64C>A)
c.1069C>A (p.Leu357Ile)
c.276+16967G>T (n.276+16967G>T)
c.*220+5577C>A (n.*220+5577C>A)
c.193C>A (p.Leu65Ile)
c.220C>A (p.Leu74Ile)
c.1075C>A (p.Leu359Ile)
c.889C>A (p.Leu297Ile)
c.808C>A (p.Leu270Ile)
c.514C>A (p.Leu172Ile)
c.895C>A (p.Leu299Ile)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.48688648A>CCA426124674GTF2A1L,LHCGR,STON1-GTF2A1Lc.1149T>G (p.Val383=)
c.948-509T>G (n.948-509T>G)
c.3441+16968A>C (n.3441+16968A>C)
c.948-65T>G (n.948-65T>G)
c.1068T>G (p.Val356=)
c.276+16968A>C (n.276+16968A>C)
c.*220+5576T>G (n.*220+5576T>G)
c.192T>G (p.Val64=)
c.219T>G (p.Val73=)
c.1074T>G (p.Val358=)
c.888T>G (p.Val296=)
c.807T>G (p.Val269=)
c.513T>G (p.Val171=)
c.894T>G (p.Val298=)
2g.48688648A>GCA426124675GTF2A1L,LHCGR,STON1-GTF2A1Lc.1149T>C (p.Val383=)
c.948-509T>C (n.948-509T>C)
c.3441+16968A>G (n.3441+16968A>G)
c.948-65T>C (n.948-65T>C)
c.1068T>C (p.Val356=)
c.276+16968A>G (n.276+16968A>G)
c.*220+5576T>C (n.*220+5576T>C)
c.192T>C (p.Val64=)
c.219T>C (p.Val73=)
c.1074T>C (p.Val358=)
c.888T>C (p.Val296=)
c.807T>C (p.Val269=)
c.513T>C (p.Val171=)
c.894T>C (p.Val298=)
2g.48688648A>TCA426124677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1149T>A (p.Val383=)
c.948-509T>A (n.948-509T>A)
c.3441+16968A>T (n.3441+16968A>T)
c.948-65T>A (n.948-65T>A)
c.1068T>A (p.Val356=)
c.276+16968A>T (n.276+16968A>T)
c.*220+5576T>A (n.*220+5576T>A)
c.192T>A (p.Val64=)
c.219T>A (p.Val73=)
c.1074T>A (p.Val358=)
c.888T>A (p.Val296=)
c.807T>A (p.Val269=)
c.513T>A (p.Val171=)
c.894T>A (p.Val298=)
2g.48688649A>CCA346749144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1148T>G (p.Val383Gly)
c.948-510T>G (n.948-510T>G)
c.3441+16969A>C (n.3441+16969A>C)
c.948-66T>G (n.948-66T>G)
c.1067T>G (p.Val356Gly)
c.276+16969A>C (n.276+16969A>C)
c.*220+5575T>G (n.*220+5575T>G)
c.191T>G (p.Val64Gly)
c.218T>G (p.Val73Gly)
c.1073T>G (p.Val358Gly)
c.887T>G (p.Val296Gly)
c.806T>G (p.Val269Gly)
c.512T>G (p.Val171Gly)
c.893T>G (p.Val298Gly)
2g.48688649A>GCA346749147GTF2A1L,LHCGR,STON1-GTF2A1Lc.1148T>C (p.Val383Ala)
c.948-510T>C (n.948-510T>C)
c.3441+16969A>G (n.3441+16969A>G)
c.948-66T>C (n.948-66T>C)
c.1067T>C (p.Val356Ala)
c.276+16969A>G (n.276+16969A>G)
c.*220+5575T>C (n.*220+5575T>C)
c.191T>C (p.Val64Ala)
c.218T>C (p.Val73Ala)
c.1073T>C (p.Val358Ala)
c.887T>C (p.Val296Ala)
c.806T>C (p.Val269Ala)
c.512T>C (p.Val171Ala)
c.893T>C (p.Val298Ala)
2g.48688649A>TCA346749150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1148T>A (p.Val383Asp)
c.948-510T>A (n.948-510T>A)
c.3441+16969A>T (n.3441+16969A>T)
c.948-66T>A (n.948-66T>A)
c.1067T>A (p.Val356Asp)
c.276+16969A>T (n.276+16969A>T)
c.*220+5575T>A (n.*220+5575T>A)
c.191T>A (p.Val64Asp)
c.218T>A (p.Val73Asp)
c.1073T>A (p.Val358Asp)
c.887T>A (p.Val296Asp)
c.806T>A (p.Val269Asp)
c.512T>A (p.Val171Asp)
c.893T>A (p.Val298Asp)
 gnomAD v4
2g.48688650delCA2552856205GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147del (p.Val383PhefsTer3)
c.948-511del (n.948-511del)
c.3441+16970del (n.3441+16970del)
c.948-67del (n.948-67del)
c.1066del (p.Val356PhefsTer3)
c.276+16970del (n.276+16970del)
c.*220+5574del (n.*220+5574del)
c.190del (p.Val64PhefsTer3)
c.217del (p.Val73PhefsTer3)
c.1072del (p.Val358PhefsTer3)
c.886del (p.Val296PhefsTer3)
c.805del (p.Val269PhefsTer3)
c.511del (p.Val171PhefsTer3)
c.892del (p.Val298PhefsTer3)
2g.48688650C>ACA346749154GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G>T (p.Val383Phe)
c.948-511G>T (n.948-511G>T)
c.3441+16970C>A (n.3441+16970C>A)
c.948-67G>T (n.948-67G>T)
c.1066G>T (p.Val356Phe)
c.276+16970C>A (n.276+16970C>A)
c.*220+5574G>T (n.*220+5574G>T)
c.190G>T (p.Val64Phe)
c.217G>T (p.Val73Phe)
c.1072G>T (p.Val358Phe)
c.886G>T (p.Val296Phe)
c.805G>T (p.Val269Phe)
c.511G>T (p.Val171Phe)
c.892G>T (p.Val298Phe)
2g.48688650C=CA1248601218GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G= (p.Val383=)
c.948-511G= (n.948-511G=)
c.3441+16970C= (n.3441+16970C=)
c.948-67G= (n.948-67G=)
c.1066G= (p.Val356=)
c.276+16970C= (n.276+16970C=)
c.*220+5574G= (n.*220+5574G=)
c.190G= (p.Val64=)
c.217G= (p.Val73=)
c.1072G= (p.Val358=)
c.886G= (p.Val296=)
c.805G= (p.Val269=)
c.511G= (p.Val171=)
c.892G= (p.Val298=)
2g.48688650C>GCA346749158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G>C (p.Val383Leu)
c.948-511G>C (n.948-511G>C)
c.3441+16970C>G (n.3441+16970C>G)
c.948-67G>C (n.948-67G>C)
c.1066G>C (p.Val356Leu)
c.276+16970C>G (n.276+16970C>G)
c.*220+5574G>C (n.*220+5574G>C)
c.190G>C (p.Val64Leu)
c.217G>C (p.Val73Leu)
c.1072G>C (p.Val358Leu)
c.886G>C (p.Val296Leu)
c.805G>C (p.Val269Leu)
c.511G>C (p.Val171Leu)
c.892G>C (p.Val298Leu)
2g.48688650C>TCA346749156GTF2A1L,LHCGR,STON1-GTF2A1Lc.1147G>A (p.Val383Ile)
c.948-511G>A (n.948-511G>A)
c.3441+16970C>T (n.3441+16970C>T)
c.948-67G>A (n.948-67G>A)
c.1066G>A (p.Val356Ile)
c.276+16970C>T (n.276+16970C>T)
c.*220+5574G>A (n.*220+5574G>A)
c.190G>A (p.Val64Ile)
c.217G>A (p.Val73Ile)
c.1072G>A (p.Val358Ile)
c.886G>A (p.Val296Ile)
c.805G>A (p.Val269Ile)
c.511G>A (p.Val171Ile)
c.892G>A (p.Val298Ile)
 dbSNP gnomAD v4
2g.48688651A>CCA346749177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1146T>G (p.Phe382Leu)
c.948-512T>G (n.948-512T>G)
c.3441+16971A>C (n.3441+16971A>C)
c.948-68T>G (n.948-68T>G)
c.1065T>G (p.Phe355Leu)
c.276+16971A>C (n.276+16971A>C)
c.*220+5573T>G (n.*220+5573T>G)
c.189T>G (p.Phe63Leu)
c.216T>G (p.Phe72Leu)
c.1071T>G (p.Phe357Leu)
c.885T>G (p.Phe295Leu)
c.804T>G (p.Phe268Leu)
c.510T>G (p.Phe170Leu)
c.891T>G (p.Phe297Leu)
 gnomAD v4
2g.48688651A>GCA426124678GTF2A1L,LHCGR,STON1-GTF2A1Lc.1146T>C (p.Phe382=)
c.948-512T>C (n.948-512T>C)
c.3441+16971A>G (n.3441+16971A>G)
c.948-68T>C (n.948-68T>C)
c.1065T>C (p.Phe355=)
c.276+16971A>G (n.276+16971A>G)
c.*220+5573T>C (n.*220+5573T>C)
c.189T>C (p.Phe63=)
c.216T>C (p.Phe72=)
c.1071T>C (p.Phe357=)
c.885T>C (p.Phe295=)
c.804T>C (p.Phe268=)
c.510T>C (p.Phe170=)
c.891T>C (p.Phe297=)
 gnomAD v4
2g.48688651A>TCA346749179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1146T>A (p.Phe382Leu)
c.948-512T>A (n.948-512T>A)
c.3441+16971A>T (n.3441+16971A>T)
c.948-68T>A (n.948-68T>A)
c.1065T>A (p.Phe355Leu)
c.276+16971A>T (n.276+16971A>T)
c.*220+5573T>A (n.*220+5573T>A)
c.189T>A (p.Phe63Leu)
c.216T>A (p.Phe72Leu)
c.1071T>A (p.Phe357Leu)
c.885T>A (p.Phe295Leu)
c.804T>A (p.Phe268Leu)
c.510T>A (p.Phe170Leu)
c.891T>A (p.Phe297Leu)
2g.48688652A>CCA346749183GTF2A1L,LHCGR,STON1-GTF2A1Lc.1145T>G (p.Phe382Cys)
c.948-513T>G (n.948-513T>G)
c.3441+16972A>C (n.3441+16972A>C)
c.948-69T>G (n.948-69T>G)
c.1064T>G (p.Phe355Cys)
c.276+16972A>C (n.276+16972A>C)
c.*220+5572T>G (n.*220+5572T>G)
c.188T>G (p.Phe63Cys)
c.215T>G (p.Phe72Cys)
c.1070T>G (p.Phe357Cys)
c.884T>G (p.Phe295Cys)
c.803T>G (p.Phe268Cys)
c.509T>G (p.Phe170Cys)
c.890T>G (p.Phe297Cys)
 gnomAD v4
2g.48688652A>GCA346749190GTF2A1L,LHCGR,STON1-GTF2A1Lc.1145T>C (p.Phe382Ser)
c.948-513T>C (n.948-513T>C)
c.3441+16972A>G (n.3441+16972A>G)
c.948-69T>C (n.948-69T>C)
c.1064T>C (p.Phe355Ser)
c.276+16972A>G (n.276+16972A>G)
c.*220+5572T>C (n.*220+5572T>C)
c.188T>C (p.Phe63Ser)
c.215T>C (p.Phe72Ser)
c.1070T>C (p.Phe357Ser)
c.884T>C (p.Phe295Ser)
c.803T>C (p.Phe268Ser)
c.509T>C (p.Phe170Ser)
c.890T>C (p.Phe297Ser)
 gnomAD v4
2g.48688652A>TCA346749197GTF2A1L,LHCGR,STON1-GTF2A1Lc.1145T>A (p.Phe382Tyr)
c.948-513T>A (n.948-513T>A)
c.3441+16972A>T (n.3441+16972A>T)
c.948-69T>A (n.948-69T>A)
c.1064T>A (p.Phe355Tyr)
c.276+16972A>T (n.276+16972A>T)
c.*220+5572T>A (n.*220+5572T>A)
c.188T>A (p.Phe63Tyr)
c.215T>A (p.Phe72Tyr)
c.1070T>A (p.Phe357Tyr)
c.884T>A (p.Phe295Tyr)
c.803T>A (p.Phe268Tyr)
c.509T>A (p.Phe170Tyr)
c.890T>A (p.Phe297Tyr)
2g.48688653A>CCA346749432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1144T>G (p.Phe382Val)
c.948-514T>G (n.948-514T>G)
c.3441+16973A>C (n.3441+16973A>C)
c.948-70T>G (n.948-70T>G)
c.1063T>G (p.Phe355Val)
c.276+16973A>C (n.276+16973A>C)
c.*220+5571T>G (n.*220+5571T>G)
c.187T>G (p.Phe63Val)
c.214T>G (p.Phe72Val)
c.1069T>G (p.Phe357Val)
c.883T>G (p.Phe295Val)
c.802T>G (p.Phe268Val)
c.508T>G (p.Phe170Val)
c.889T>G (p.Phe297Val)
2g.48688653A>GCA346749431GTF2A1L,LHCGR,STON1-GTF2A1Lc.1144T>C (p.Phe382Leu)
c.948-514T>C (n.948-514T>C)
c.3441+16973A>G (n.3441+16973A>G)
c.948-70T>C (n.948-70T>C)
c.1063T>C (p.Phe355Leu)
c.276+16973A>G (n.276+16973A>G)
c.*220+5571T>C (n.*220+5571T>C)
c.187T>C (p.Phe63Leu)
c.214T>C (p.Phe72Leu)
c.1069T>C (p.Phe357Leu)
c.883T>C (p.Phe295Leu)
c.802T>C (p.Phe268Leu)
c.508T>C (p.Phe170Leu)
c.889T>C (p.Phe297Leu)
2g.48688653A>TCA346749428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1144T>A (p.Phe382Ile)
c.948-514T>A (n.948-514T>A)
c.3441+16973A>T (n.3441+16973A>T)
c.948-70T>A (n.948-70T>A)
c.1063T>A (p.Phe355Ile)
c.276+16973A>T (n.276+16973A>T)
c.*220+5571T>A (n.*220+5571T>A)
c.187T>A (p.Phe63Ile)
c.214T>A (p.Phe72Ile)
c.1069T>A (p.Phe357Ile)
c.883T>A (p.Phe295Ile)
c.802T>A (p.Phe268Ile)
c.508T>A (p.Phe170Ile)
c.889T>A (p.Phe297Ile)
2g.48688654A>CCA426124682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1143T>G (p.Leu381=)
c.948-515T>G (n.948-515T>G)
c.3441+16974A>C (n.3441+16974A>C)
c.948-71T>G (n.948-71T>G)
c.1062T>G (p.Leu354=)
c.276+16974A>C (n.276+16974A>C)
c.*220+5570T>G (n.*220+5570T>G)
c.186T>G (p.Leu62=)
c.213T>G (p.Leu71=)
c.1068T>G (p.Leu356=)
c.882T>G (p.Leu294=)
c.801T>G (p.Leu267=)
c.507T>G (p.Leu169=)
c.888T>G (p.Leu296=)
2g.48688654A>GCA426124683GTF2A1L,LHCGR,STON1-GTF2A1Lc.1143T>C (p.Leu381=)
c.948-515T>C (n.948-515T>C)
c.3441+16974A>G (n.3441+16974A>G)
c.948-71T>C (n.948-71T>C)
c.1062T>C (p.Leu354=)
c.276+16974A>G (n.276+16974A>G)
c.*220+5570T>C (n.*220+5570T>C)
c.186T>C (p.Leu62=)
c.213T>C (p.Leu71=)
c.1068T>C (p.Leu356=)
c.882T>C (p.Leu294=)
c.801T>C (p.Leu267=)
c.507T>C (p.Leu169=)
c.888T>C (p.Leu296=)
2g.48688654A>TCA426124684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1143T>A (p.Leu381=)
c.948-515T>A (n.948-515T>A)
c.3441+16974A>T (n.3441+16974A>T)
c.948-71T>A (n.948-71T>A)
c.1062T>A (p.Leu354=)
c.276+16974A>T (n.276+16974A>T)
c.*220+5570T>A (n.*220+5570T>A)
c.186T>A (p.Leu62=)
c.213T>A (p.Leu71=)
c.1068T>A (p.Leu356=)
c.882T>A (p.Leu294=)
c.801T>A (p.Leu267=)
c.507T>A (p.Leu169=)
c.888T>A (p.Leu296=)
 gnomAD v4
2g.48688655A=CA1248601219GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T= (p.Leu381=)
c.948-516T= (n.948-516T=)
c.3441+16975A= (n.3441+16975A=)
c.948-72T= (n.948-72T=)
c.1061T= (p.Leu354=)
c.276+16975A= (n.276+16975A=)
c.*220+5569T= (n.*220+5569T=)
c.185T= (p.Leu62=)
c.212T= (p.Leu71=)
c.1067T= (p.Leu356=)
c.881T= (p.Leu294=)
c.800T= (p.Leu267=)
c.506T= (p.Leu169=)
c.887T= (p.Leu296=)
2g.48688655A>CCA346749438GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T>G (p.Leu381Arg)
c.948-516T>G (n.948-516T>G)
c.3441+16975A>C (n.3441+16975A>C)
c.948-72T>G (n.948-72T>G)
c.1061T>G (p.Leu354Arg)
c.276+16975A>C (n.276+16975A>C)
c.*220+5569T>G (n.*220+5569T>G)
c.185T>G (p.Leu62Arg)
c.212T>G (p.Leu71Arg)
c.1067T>G (p.Leu356Arg)
c.881T>G (p.Leu294Arg)
c.800T>G (p.Leu267Arg)
c.506T>G (p.Leu169Arg)
c.887T>G (p.Leu296Arg)
2g.48688655A>GCA346749436GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T>C (p.Leu381Pro)
c.948-516T>C (n.948-516T>C)
c.3441+16975A>G (n.3441+16975A>G)
c.948-72T>C (n.948-72T>C)
c.1061T>C (p.Leu354Pro)
c.276+16975A>G (n.276+16975A>G)
c.*220+5569T>C (n.*220+5569T>C)
c.185T>C (p.Leu62Pro)
c.212T>C (p.Leu71Pro)
c.1067T>C (p.Leu356Pro)
c.881T>C (p.Leu294Pro)
c.800T>C (p.Leu267Pro)
c.506T>C (p.Leu169Pro)
c.887T>C (p.Leu296Pro)
2g.48688655A>TCA346749444GTF2A1L,LHCGR,STON1-GTF2A1Lc.1142T>A (p.Leu381His)
c.948-516T>A (n.948-516T>A)
c.3441+16975A>T (n.3441+16975A>T)
c.948-72T>A (n.948-72T>A)
c.1061T>A (p.Leu354His)
c.276+16975A>T (n.276+16975A>T)
c.*220+5569T>A (n.*220+5569T>A)
c.185T>A (p.Leu62His)
c.212T>A (p.Leu71His)
c.1067T>A (p.Leu356His)
c.881T>A (p.Leu294His)
c.800T>A (p.Leu267His)
c.506T>A (p.Leu169His)
c.887T>A (p.Leu296His)
 dbSNP
2g.48688656delCA2658992086GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141del (p.Leu381PhefsTer5)
c.948-517del (n.948-517del)
c.3441+16976del (n.3441+16976del)
c.948-73del (n.948-73del)
c.1060del (p.Leu354PhefsTer5)
c.276+16976del (n.276+16976del)
c.*220+5568del (n.*220+5568del)
c.184del (p.Leu62PhefsTer5)
c.211del (p.Leu71PhefsTer5)
c.1066del (p.Leu356PhefsTer5)
c.880del (p.Leu294PhefsTer5)
c.799del (p.Leu267PhefsTer5)
c.505del (p.Leu169PhefsTer5)
c.886del (p.Leu296PhefsTer5)
 gnomAD v4
2g.48688656G>ACA346749448GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C>T (p.Leu381Phe)
c.948-517C>T (n.948-517C>T)
c.3441+16976G>A (n.3441+16976G>A)
c.948-73C>T (n.948-73C>T)
c.1060C>T (p.Leu354Phe)
c.276+16976G>A (n.276+16976G>A)
c.*220+5568C>T (n.*220+5568C>T)
c.184C>T (p.Leu62Phe)
c.211C>T (p.Leu71Phe)
c.1066C>T (p.Leu356Phe)
c.880C>T (p.Leu294Phe)
c.799C>T (p.Leu267Phe)
c.505C>T (p.Leu169Phe)
c.886C>T (p.Leu296Phe)
2g.48688656G>CCA346749450GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C>G (p.Leu381Val)
c.948-517C>G (n.948-517C>G)
c.3441+16976G>C (n.3441+16976G>C)
c.948-73C>G (n.948-73C>G)
c.1060C>G (p.Leu354Val)
c.276+16976G>C (n.276+16976G>C)
c.*220+5568C>G (n.*220+5568C>G)
c.184C>G (p.Leu62Val)
c.211C>G (p.Leu71Val)
c.1066C>G (p.Leu356Val)
c.880C>G (p.Leu294Val)
c.799C>G (p.Leu267Val)
c.505C>G (p.Leu169Val)
c.886C>G (p.Leu296Val)
2g.48688656G=CA1248601220GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C= (p.Leu381=)
c.948-517C= (n.948-517C=)
c.3441+16976G= (n.3441+16976G=)
c.948-73C= (n.948-73C=)
c.1060C= (p.Leu354=)
c.276+16976G= (n.276+16976G=)
c.*220+5568C= (n.*220+5568C=)
c.184C= (p.Leu62=)
c.211C= (p.Leu71=)
c.1066C= (p.Leu356=)
c.880C= (p.Leu294=)
c.799C= (p.Leu267=)
c.505C= (p.Leu169=)
c.886C= (p.Leu296=)
2g.48688656G>TCA346749452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1141C>A (p.Leu381Ile)
c.948-517C>A (n.948-517C>A)
c.3441+16976G>T (n.3441+16976G>T)
c.948-73C>A (n.948-73C>A)
c.1060C>A (p.Leu354Ile)
c.276+16976G>T (n.276+16976G>T)
c.*220+5568C>A (n.*220+5568C>A)
c.184C>A (p.Leu62Ile)
c.211C>A (p.Leu71Ile)
c.1066C>A (p.Leu356Ile)
c.880C>A (p.Leu294Ile)
c.799C>A (p.Leu267Ile)
c.505C>A (p.Leu169Ile)
c.886C>A (p.Leu296Ile)
 dbSNP gnomAD v2
2g.48688657A=CA1248601221GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T= (p.Val380=)
c.948-518T= (n.948-518T=)
c.3441+16977A= (n.3441+16977A=)
c.948-74T= (n.948-74T=)
c.1059T= (p.Val353=)
c.276+16977A= (n.276+16977A=)
c.*220+5567T= (n.*220+5567T=)
c.183T= (p.Val61=)
c.210T= (p.Val70=)
c.1065T= (p.Val355=)
c.879T= (p.Val293=)
c.798T= (p.Val266=)
c.504T= (p.Val168=)
c.885T= (p.Val295=)
2g.48688657A>CCA426124687GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T>G (p.Val380=)
c.948-518T>G (n.948-518T>G)
c.3441+16977A>C (n.3441+16977A>C)
c.948-74T>G (n.948-74T>G)
c.1059T>G (p.Val353=)
c.276+16977A>C (n.276+16977A>C)
c.*220+5567T>G (n.*220+5567T>G)
c.183T>G (p.Val61=)
c.210T>G (p.Val70=)
c.1065T>G (p.Val355=)
c.879T>G (p.Val293=)
c.798T>G (p.Val266=)
c.504T>G (p.Val168=)
c.885T>G (p.Val295=)
2g.48688657A>GCA426124688GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T>C (p.Val380=)
c.948-518T>C (n.948-518T>C)
c.3441+16977A>G (n.3441+16977A>G)
c.948-74T>C (n.948-74T>C)
c.1059T>C (p.Val353=)
c.276+16977A>G (n.276+16977A>G)
c.*220+5567T>C (n.*220+5567T>C)
c.183T>C (p.Val61=)
c.210T>C (p.Val70=)
c.1065T>C (p.Val355=)
c.879T>C (p.Val293=)
c.798T>C (p.Val266=)
c.504T>C (p.Val168=)
c.885T>C (p.Val295=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688657A>TCA426124689GTF2A1L,LHCGR,STON1-GTF2A1Lc.1140T>A (p.Val380=)
c.948-518T>A (n.948-518T>A)
c.3441+16977A>T (n.3441+16977A>T)
c.948-74T>A (n.948-74T>A)
c.1059T>A (p.Val353=)
c.276+16977A>T (n.276+16977A>T)
c.*220+5567T>A (n.*220+5567T>A)
c.183T>A (p.Val61=)
c.210T>A (p.Val70=)
c.1065T>A (p.Val355=)
c.879T>A (p.Val293=)
c.798T>A (p.Val266=)
c.504T>A (p.Val168=)
c.885T>A (p.Val295=)
2g.48688658A=CA1248601222GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T= (p.Val380=)
c.948-519T= (n.948-519T=)
c.3441+16978A= (n.3441+16978A=)
c.948-75T= (n.948-75T=)
c.1058T= (p.Val353=)
c.276+16978A= (n.276+16978A=)
c.*220+5566T= (n.*220+5566T=)
c.182T= (p.Val61=)
c.209T= (p.Val70=)
c.1064T= (p.Val355=)
c.878T= (p.Val293=)
c.797T= (p.Val266=)
c.503T= (p.Val168=)
c.884T= (p.Val295=)
2g.48688658A>CCA346749455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T>G (p.Val380Gly)
c.948-519T>G (n.948-519T>G)
c.3441+16978A>C (n.3441+16978A>C)
c.948-75T>G (n.948-75T>G)
c.1058T>G (p.Val353Gly)
c.276+16978A>C (n.276+16978A>C)
c.*220+5566T>G (n.*220+5566T>G)
c.182T>G (p.Val61Gly)
c.209T>G (p.Val70Gly)
c.1064T>G (p.Val355Gly)
c.878T>G (p.Val293Gly)
c.797T>G (p.Val266Gly)
c.503T>G (p.Val168Gly)
c.884T>G (p.Val295Gly)
2g.48688658A>GCA1653076GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T>C (p.Val380Ala)
c.948-519T>C (n.948-519T>C)
c.3441+16978A>G (n.3441+16978A>G)
c.948-75T>C (n.948-75T>C)
c.1058T>C (p.Val353Ala)
c.276+16978A>G (n.276+16978A>G)
c.*220+5566T>C (n.*220+5566T>C)
c.182T>C (p.Val61Ala)
c.209T>C (p.Val70Ala)
c.1064T>C (p.Val355Ala)
c.878T>C (p.Val293Ala)
c.797T>C (p.Val266Ala)
c.503T>C (p.Val168Ala)
c.884T>C (p.Val295Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688658A>TCA346749460GTF2A1L,LHCGR,STON1-GTF2A1Lc.1139T>A (p.Val380Asp)
c.948-519T>A (n.948-519T>A)
c.3441+16978A>T (n.3441+16978A>T)
c.948-75T>A (n.948-75T>A)
c.1058T>A (p.Val353Asp)
c.276+16978A>T (n.276+16978A>T)
c.*220+5566T>A (n.*220+5566T>A)
c.182T>A (p.Val61Asp)
c.209T>A (p.Val70Asp)
c.1064T>A (p.Val355Asp)
c.878T>A (p.Val293Asp)
c.797T>A (p.Val266Asp)
c.503T>A (p.Val168Asp)
c.884T>A (p.Val295Asp)
2g.48688659C>ACA346749465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G>T (p.Val380Phe)
c.948-520G>T (n.948-520G>T)
c.3441+16979C>A (n.3441+16979C>A)
c.948-76G>T (n.948-76G>T)
c.1057G>T (p.Val353Phe)
c.276+16979C>A (n.276+16979C>A)
c.*220+5565G>T (n.*220+5565G>T)
c.181G>T (p.Val61Phe)
c.208G>T (p.Val70Phe)
c.1063G>T (p.Val355Phe)
c.877G>T (p.Val293Phe)
c.796G>T (p.Val266Phe)
c.502G>T (p.Val168Phe)
c.883G>T (p.Val295Phe)
2g.48688659C=CA1248601223GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G= (p.Val380=)
c.948-520G= (n.948-520G=)
c.3441+16979C= (n.3441+16979C=)
c.948-76G= (n.948-76G=)
c.1057G= (p.Val353=)
c.276+16979C= (n.276+16979C=)
c.*220+5565G= (n.*220+5565G=)
c.181G= (p.Val61=)
c.208G= (p.Val70=)
c.1063G= (p.Val355=)
c.877G= (p.Val293=)
c.796G= (p.Val266=)
c.502G= (p.Val168=)
c.883G= (p.Val295=)
2g.48688659C>GCA346749464GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G>C (p.Val380Leu)
c.948-520G>C (n.948-520G>C)
c.3441+16979C>G (n.3441+16979C>G)
c.948-76G>C (n.948-76G>C)
c.1057G>C (p.Val353Leu)
c.276+16979C>G (n.276+16979C>G)
c.*220+5565G>C (n.*220+5565G>C)
c.181G>C (p.Val61Leu)
c.208G>C (p.Val70Leu)
c.1063G>C (p.Val355Leu)
c.877G>C (p.Val293Leu)
c.796G>C (p.Val266Leu)
c.502G>C (p.Val168Leu)
c.883G>C (p.Val295Leu)
 dbSNP gnomAD v4
2g.48688659C>TCA46753232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1138G>A (p.Val380Ile)
c.948-520G>A (n.948-520G>A)
c.3441+16979C>T (n.3441+16979C>T)
c.948-76G>A (n.948-76G>A)
c.1057G>A (p.Val353Ile)
c.276+16979C>T (n.276+16979C>T)
c.*220+5565G>A (n.*220+5565G>A)
c.181G>A (p.Val61Ile)
c.208G>A (p.Val70Ile)
c.1063G>A (p.Val355Ile)
c.877G>A (p.Val293Ile)
c.796G>A (p.Val266Ile)
c.502G>A (p.Val168Ile)
c.883G>A (p.Val295Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48688660A>CCA426124693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1137T>G (p.Thr379=)
c.948-521T>G (n.948-521T>G)
c.3441+16980A>C (n.3441+16980A>C)
c.948-77T>G (n.948-77T>G)
c.1056T>G (p.Thr352=)
c.276+16980A>C (n.276+16980A>C)
c.*220+5564T>G (n.*220+5564T>G)
c.180T>G (p.Thr60=)
c.207T>G (p.Thr69=)
c.1062T>G (p.Thr354=)
c.876T>G (p.Thr292=)
c.795T>G (p.Thr265=)
c.501T>G (p.Thr167=)
c.882T>G (p.Thr294=)
 gnomAD v4
2g.48688660A>GCA426124694GTF2A1L,LHCGR,STON1-GTF2A1Lc.1137T>C (p.Thr379=)
c.948-521T>C (n.948-521T>C)
c.3441+16980A>G (n.3441+16980A>G)
c.948-77T>C (n.948-77T>C)
c.1056T>C (p.Thr352=)
c.276+16980A>G (n.276+16980A>G)
c.*220+5564T>C (n.*220+5564T>C)
c.180T>C (p.Thr60=)
c.207T>C (p.Thr69=)
c.1062T>C (p.Thr354=)
c.876T>C (p.Thr292=)
c.795T>C (p.Thr265=)
c.501T>C (p.Thr167=)
c.882T>C (p.Thr294=)
2g.48688660A>TCA426124695GTF2A1L,LHCGR,STON1-GTF2A1Lc.1137T>A (p.Thr379=)
c.948-521T>A (n.948-521T>A)
c.3441+16980A>T (n.3441+16980A>T)
c.948-77T>A (n.948-77T>A)
c.1056T>A (p.Thr352=)
c.276+16980A>T (n.276+16980A>T)
c.*220+5564T>A (n.*220+5564T>A)
c.180T>A (p.Thr60=)
c.207T>A (p.Thr69=)
c.1062T>A (p.Thr354=)
c.876T>A (p.Thr292=)
c.795T>A (p.Thr265=)
c.501T>A (p.Thr167=)
c.882T>A (p.Thr294=)
2g.48688661G>ACA346749467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1136C>T (p.Thr379Ile)
c.948-522C>T (n.948-522C>T)
c.3441+16981G>A (n.3441+16981G>A)
c.948-78C>T (n.948-78C>T)
c.1055C>T (p.Thr352Ile)
c.276+16981G>A (n.276+16981G>A)
c.*220+5563C>T (n.*220+5563C>T)
c.179C>T (p.Thr60Ile)
c.206C>T (p.Thr69Ile)
c.1061C>T (p.Thr354Ile)
c.875C>T (p.Thr292Ile)
c.794C>T (p.Thr265Ile)
c.500C>T (p.Thr167Ile)
c.881C>T (p.Thr294Ile)
2g.48688661G>CCA346749470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1136C>G (p.Thr379Ser)
c.948-522C>G (n.948-522C>G)
c.3441+16981G>C (n.3441+16981G>C)
c.948-78C>G (n.948-78C>G)
c.1055C>G (p.Thr352Ser)
c.276+16981G>C (n.276+16981G>C)
c.*220+5563C>G (n.*220+5563C>G)
c.179C>G (p.Thr60Ser)
c.206C>G (p.Thr69Ser)
c.1061C>G (p.Thr354Ser)
c.875C>G (p.Thr292Ser)
c.794C>G (p.Thr265Ser)
c.500C>G (p.Thr167Ser)
c.881C>G (p.Thr294Ser)
2g.48688661G>TCA346749472GTF2A1L,LHCGR,STON1-GTF2A1Lc.1136C>A (p.Thr379Asn)
c.948-522C>A (n.948-522C>A)
c.3441+16981G>T (n.3441+16981G>T)
c.948-78C>A (n.948-78C>A)
c.1055C>A (p.Thr352Asn)
c.276+16981G>T (n.276+16981G>T)
c.*220+5563C>A (n.*220+5563C>A)
c.179C>A (p.Thr60Asn)
c.206C>A (p.Thr69Asn)
c.1061C>A (p.Thr354Asn)
c.875C>A (p.Thr292Asn)
c.794C>A (p.Thr265Asn)
c.500C>A (p.Thr167Asn)
c.881C>A (p.Thr294Asn)
2g.48688662T>ACA346749475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A>T (p.Thr379Ser)
c.948-523A>T (n.948-523A>T)
c.3441+16982T>A (n.3441+16982T>A)
c.948-79A>T (n.948-79A>T)
c.1054A>T (p.Thr352Ser)
c.276+16982T>A (n.276+16982T>A)
c.*220+5562A>T (n.*220+5562A>T)
c.178A>T (p.Thr60Ser)
c.205A>T (p.Thr69Ser)
c.1060A>T (p.Thr354Ser)
c.874A>T (p.Thr292Ser)
c.793A>T (p.Thr265Ser)
c.499A>T (p.Thr167Ser)
c.880A>T (p.Thr294Ser)
2g.48688662T>CCA1653077GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A>G (p.Thr379Ala)
c.948-523A>G (n.948-523A>G)
c.3441+16982T>C (n.3441+16982T>C)
c.948-79A>G (n.948-79A>G)
c.1054A>G (p.Thr352Ala)
c.276+16982T>C (n.276+16982T>C)
c.*220+5562A>G (n.*220+5562A>G)
c.178A>G (p.Thr60Ala)
c.205A>G (p.Thr69Ala)
c.1060A>G (p.Thr354Ala)
c.874A>G (p.Thr292Ala)
c.793A>G (p.Thr265Ala)
c.499A>G (p.Thr167Ala)
c.880A>G (p.Thr294Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688662T>GCA346749479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A>C (p.Thr379Pro)
c.948-523A>C (n.948-523A>C)
c.3441+16982T>G (n.3441+16982T>G)
c.948-79A>C (n.948-79A>C)
c.1054A>C (p.Thr352Pro)
c.276+16982T>G (n.276+16982T>G)
c.*220+5562A>C (n.*220+5562A>C)
c.178A>C (p.Thr60Pro)
c.205A>C (p.Thr69Pro)
c.1060A>C (p.Thr354Pro)
c.874A>C (p.Thr292Pro)
c.793A>C (p.Thr265Pro)
c.499A>C (p.Thr167Pro)
c.880A>C (p.Thr294Pro)
2g.48688662T=CA1248601224GTF2A1L,LHCGR,STON1-GTF2A1Lc.1135A= (p.Thr379=)
c.948-523A= (n.948-523A=)
c.3441+16982T= (n.3441+16982T=)
c.948-79A= (n.948-79A=)
c.1054A= (p.Thr352=)
c.276+16982T= (n.276+16982T=)
c.*220+5562A= (n.*220+5562A=)
c.178A= (p.Thr60=)
c.205A= (p.Thr69=)
c.1060A= (p.Thr354=)
c.874A= (p.Thr292=)
c.793A= (p.Thr265=)
c.499A= (p.Thr167=)
c.880A= (p.Thr294=)
2g.48688663C>ACA346749482GTF2A1L,LHCGR,STON1-GTF2A1Lc.1134G>T (p.Met378Ile)
c.948-524G>T (n.948-524G>T)
c.3441+16983C>A (n.3441+16983C>A)
c.948-80G>T (n.948-80G>T)
c.1053G>T (p.Met351Ile)
c.276+16983C>A (n.276+16983C>A)
c.*220+5561G>T (n.*220+5561G>T)
c.177G>T (p.Met59Ile)
c.204G>T (p.Met68Ile)
c.1059G>T (p.Met353Ile)
c.873G>T (p.Met291Ile)
c.792G>T (p.Met264Ile)
c.498G>T (p.Met166Ile)
c.879G>T (p.Met293Ile)
2g.48688663C>GCA346749487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1134G>C (p.Met378Ile)
c.948-524G>C (n.948-524G>C)
c.3441+16983C>G (n.3441+16983C>G)
c.948-80G>C (n.948-80G>C)
c.1053G>C (p.Met351Ile)
c.276+16983C>G (n.276+16983C>G)
c.*220+5561G>C (n.*220+5561G>C)
c.177G>C (p.Met59Ile)
c.204G>C (p.Met68Ile)
c.1059G>C (p.Met353Ile)
c.873G>C (p.Met291Ile)
c.792G>C (p.Met264Ile)
c.498G>C (p.Met166Ile)
c.879G>C (p.Met293Ile)
2g.48688663C>TCA346749485GTF2A1L,LHCGR,STON1-GTF2A1Lc.1134G>A (p.Met378Ile)
c.948-524G>A (n.948-524G>A)
c.3441+16983C>T (n.3441+16983C>T)
c.948-80G>A (n.948-80G>A)
c.1053G>A (p.Met351Ile)
c.276+16983C>T (n.276+16983C>T)
c.*220+5561G>A (n.*220+5561G>A)
c.177G>A (p.Met59Ile)
c.204G>A (p.Met68Ile)
c.1059G>A (p.Met353Ile)
c.873G>A (p.Met291Ile)
c.792G>A (p.Met264Ile)
c.498G>A (p.Met166Ile)
c.879G>A (p.Met293Ile)
 gnomAD v4
2g.48688664A=CA1248601225GTF2A1L,LHCGR,STON1-GTF2A1Lc.1133T= (p.Met378=)
c.948-525T= (n.948-525T=)
c.3441+16984A= (n.3441+16984A=)
c.948-81T= (n.948-81T=)
c.1052T= (p.Met351=)
c.276+16984A= (n.276+16984A=)
c.*220+5560T= (n.*220+5560T=)
c.176T= (p.Met59=)
c.203T= (p.Met68=)
c.1058T= (p.Met353=)
c.872T= (p.Met291=)
c.791T= (p.Met264=)
c.497T= (p.Met166=)
c.878T= (p.Met293=)
2g.48688664A>CCA346749489GTF2A1L,LHCGR,STON1-GTF2A1Lc.1133T>G (p.Met378Arg)
c.948-525T>G (n.948-525T>G)
c.3441+16984A>C (n.3441+16984A>C)
c.948-81T>G (n.948-81T>G)
c.1052T>G (p.Met351Arg)
c.276+16984A>C (n.276+16984A>C)
c.*220+5560T>G (n.*220+5560T>G)
c.176T>G (p.Met59Arg)
c.203T>G (p.Met68Arg)
c.1058T>G (p.Met353Arg)
c.872T>G (p.Met291Arg)
c.791T>G (p.Met264Arg)
c.497T>G (p.Met166Arg)
c.878T>G (p.Met293Arg)
2g.48688664A>GCA46753248GTF2A1L,LHCGR,STON1-GTF2A1Lc.1133T>C (p.Met378Thr)
c.948-525T>C (n.948-525T>C)
c.3441+16984A>G (n.3441+16984A>G)
c.948-81T>C (n.948-81T>C)
c.1052T>C (p.Met351Thr)
c.276+16984A>G (n.276+16984A>G)
c.*220+5560T>C (n.*220+5560T>C)
c.176T>C (p.Met59Thr)
c.203T>C (p.Met68Thr)
c.1058T>C (p.Met353Thr)
c.872T>C (p.Met291Thr)
c.791T>C (p.Met264Thr)
c.497T>C (p.Met166Thr)
c.878T>C (p.Met293Thr)
 dbSNP
2g.48688664A>TCA346749493GTF2A1L,LHCGR,STON1-GTF2A1Lc.1133T>A (p.Met378Lys)
c.948-525T>A (n.948-525T>A)
c.3441+16984A>T (n.3441+16984A>T)
c.948-81T>A (n.948-81T>A)
c.1052T>A (p.Met351Lys)
c.276+16984A>T (n.276+16984A>T)
c.*220+5560T>A (n.*220+5560T>A)
c.176T>A (p.Met59Lys)
c.203T>A (p.Met68Lys)
c.1058T>A (p.Met353Lys)
c.872T>A (p.Met291Lys)
c.791T>A (p.Met264Lys)
c.497T>A (p.Met166Lys)
c.878T>A (p.Met293Lys)
2g.48688665T>ACA346749495GTF2A1L,LHCGR,STON1-GTF2A1Lc.1132A>T (p.Met378Leu)
c.948-526A>T (n.948-526A>T)
c.3441+16985T>A (n.3441+16985T>A)
c.948-82A>T (n.948-82A>T)
c.1051A>T (p.Met351Leu)
c.276+16985T>A (n.276+16985T>A)
c.*220+5559A>T (n.*220+5559A>T)
c.175A>T (p.Met59Leu)
c.202A>T (p.Met68Leu)
c.1057A>T (p.Met353Leu)
c.871A>T (p.Met291Leu)
c.790A>T (p.Met264Leu)
c.496A>T (p.Met166Leu)
c.877A>T (p.Met293Leu)
2g.48688665T>CCA346749499GTF2A1L,LHCGR,STON1-GTF2A1Lc.1132A>G (p.Met378Val)
c.948-526A>G (n.948-526A>G)
c.3441+16985T>C (n.3441+16985T>C)
c.948-82A>G (n.948-82A>G)
c.1051A>G (p.Met351Val)
c.276+16985T>C (n.276+16985T>C)
c.*220+5559A>G (n.*220+5559A>G)
c.175A>G (p.Met59Val)
c.202A>G (p.Met68Val)
c.1057A>G (p.Met353Val)
c.871A>G (p.Met291Val)
c.790A>G (p.Met264Val)
c.496A>G (p.Met166Val)
c.877A>G (p.Met293Val)
2g.48688665T>GCA346749501GTF2A1L,LHCGR,STON1-GTF2A1Lc.1132A>C (p.Met378Leu)
c.948-526A>C (n.948-526A>C)
c.3441+16985T>G (n.3441+16985T>G)
c.948-82A>C (n.948-82A>C)
c.1051A>C (p.Met351Leu)
c.276+16985T>G (n.276+16985T>G)
c.*220+5559A>C (n.*220+5559A>C)
c.175A>C (p.Met59Leu)
c.202A>C (p.Met68Leu)
c.1057A>C (p.Met353Leu)
c.871A>C (p.Met291Leu)
c.790A>C (p.Met264Leu)
c.496A>C (p.Met166Leu)
c.877A>C (p.Met293Leu)
2g.48688666G>ACA426124699GTF2A1L,LHCGR,STON1-GTF2A1Lc.1131C>T (p.Asn377=)
c.948-527C>T (n.948-527C>T)
c.3441+16986G>A (n.3441+16986G>A)
c.948-83C>T (n.948-83C>T)
c.1050C>T (p.Asn350=)
c.276+16986G>A (n.276+16986G>A)
c.*220+5558C>T (n.*220+5558C>T)
c.174C>T (p.Asn58=)
c.201C>T (p.Asn67=)
c.1056C>T (p.Asn352=)
c.870C>T (p.Asn290=)
c.789C>T (p.Asn263=)
c.495C>T (p.Asn165=)
c.876C>T (p.Asn292=)
 gnomAD v4
2g.48688666G>CCA346749504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1131C>G (p.Asn377Lys)
c.948-527C>G (n.948-527C>G)
c.3441+16986G>C (n.3441+16986G>C)
c.948-83C>G (n.948-83C>G)
c.1050C>G (p.Asn350Lys)
c.276+16986G>C (n.276+16986G>C)
c.*220+5558C>G (n.*220+5558C>G)
c.174C>G (p.Asn58Lys)
c.201C>G (p.Asn67Lys)
c.1056C>G (p.Asn352Lys)
c.870C>G (p.Asn290Lys)
c.789C>G (p.Asn263Lys)
c.495C>G (p.Asn165Lys)
c.876C>G (p.Asn292Lys)
2g.48688666G>TCA346749507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1131C>A (p.Asn377Lys)
c.948-527C>A (n.948-527C>A)
c.3441+16986G>T (n.3441+16986G>T)
c.948-83C>A (n.948-83C>A)
c.1050C>A (p.Asn350Lys)
c.276+16986G>T (n.276+16986G>T)
c.*220+5558C>A (n.*220+5558C>A)
c.174C>A (p.Asn58Lys)
c.201C>A (p.Asn67Lys)
c.1056C>A (p.Asn352Lys)
c.870C>A (p.Asn290Lys)
c.789C>A (p.Asn263Lys)
c.495C>A (p.Asn165Lys)
c.876C>A (p.Asn292Lys)
2g.48688667T>ACA346749510GTF2A1L,LHCGR,STON1-GTF2A1Lc.1130A>T (p.Asn377Ile)
c.948-528A>T (n.948-528A>T)
c.3441+16987T>A (n.3441+16987T>A)
c.948-84A>T (n.948-84A>T)
c.1049A>T (p.Asn350Ile)
c.276+16987T>A (n.276+16987T>A)
c.*220+5557A>T (n.*220+5557A>T)
c.173A>T (p.Asn58Ile)
c.200A>T (p.Asn67Ile)
c.1055A>T (p.Asn352Ile)
c.869A>T (p.Asn290Ile)
c.788A>T (p.Asn263Ile)
c.494A>T (p.Asn165Ile)
c.875A>T (p.Asn292Ile)
2g.48688667T>CCA346749512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1130A>G (p.Asn377Ser)
c.948-528A>G (n.948-528A>G)
c.3441+16987T>C (n.3441+16987T>C)
c.948-84A>G (n.948-84A>G)
c.1049A>G (p.Asn350Ser)
c.276+16987T>C (n.276+16987T>C)
c.*220+5557A>G (n.*220+5557A>G)
c.173A>G (p.Asn58Ser)
c.200A>G (p.Asn67Ser)
c.1055A>G (p.Asn352Ser)
c.869A>G (p.Asn290Ser)
c.788A>G (p.Asn263Ser)
c.494A>G (p.Asn165Ser)
c.875A>G (p.Asn292Ser)
2g.48688667T>GCA346749515GTF2A1L,LHCGR,STON1-GTF2A1Lc.1130A>C (p.Asn377Thr)
c.948-528A>C (n.948-528A>C)
c.3441+16987T>G (n.3441+16987T>G)
c.948-84A>C (n.948-84A>C)
c.1049A>C (p.Asn350Thr)
c.276+16987T>G (n.276+16987T>G)
c.*220+5557A>C (n.*220+5557A>C)
c.173A>C (p.Asn58Thr)
c.200A>C (p.Asn67Thr)
c.1055A>C (p.Asn352Thr)
c.869A>C (p.Asn290Thr)
c.788A>C (p.Asn263Thr)
c.494A>C (p.Asn165Thr)
c.875A>C (p.Asn292Thr)
2g.48688669delCA2699269267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1130del (p.Asn377ThrfsTer2)
c.948-528del (n.948-528del)
c.3441+16989del (n.3441+16989del)
c.948-84del (n.948-84del)
c.1049del (p.Asn350ThrfsTer2)
c.276+16989del (n.276+16989del)
c.*220+5557del (n.*220+5557del)
c.173del (p.Asn58ThrfsTer2)
c.200del (p.Asn67ThrfsTer2)
c.1055del (p.Asn352ThrfsTer2)
c.869del (p.Asn290ThrfsTer2)
c.788del (p.Asn263ThrfsTer2)
c.494del (p.Asn165ThrfsTer2)
c.875del (p.Asn292ThrfsTer2)
 dbSNP
2g.48688668T>ACA346749517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1129A>T (p.Asn377Tyr)
c.948-529A>T (n.948-529A>T)
c.3441+16988T>A (n.3441+16988T>A)
c.948-85A>T (n.948-85A>T)
c.1048A>T (p.Asn350Tyr)
c.276+16988T>A (n.276+16988T>A)
c.*220+5556A>T (n.*220+5556A>T)
c.172A>T (p.Asn58Tyr)
c.199A>T (p.Asn67Tyr)
c.1054A>T (p.Asn352Tyr)
c.868A>T (p.Asn290Tyr)
c.787A>T (p.Asn263Tyr)
c.493A>T (p.Asn165Tyr)
c.874A>T (p.Asn292Tyr)
2g.48688668T>CCA346749521GTF2A1L,LHCGR,STON1-GTF2A1Lc.1129A>G (p.Asn377Asp)
c.948-529A>G (n.948-529A>G)
c.3441+16988T>C (n.3441+16988T>C)
c.948-85A>G (n.948-85A>G)
c.1048A>G (p.Asn350Asp)
c.276+16988T>C (n.276+16988T>C)
c.*220+5556A>G (n.*220+5556A>G)
c.172A>G (p.Asn58Asp)
c.199A>G (p.Asn67Asp)
c.1054A>G (p.Asn352Asp)
c.868A>G (p.Asn290Asp)
c.787A>G (p.Asn263Asp)
c.493A>G (p.Asn165Asp)
c.874A>G (p.Asn292Asp)
2g.48688668T>GCA346749519GTF2A1L,LHCGR,STON1-GTF2A1Lc.1129A>C (p.Asn377His)
c.948-529A>C (n.948-529A>C)
c.3441+16988T>G (n.3441+16988T>G)
c.948-85A>C (n.948-85A>C)
c.1048A>C (p.Asn350His)
c.276+16988T>G (n.276+16988T>G)
c.*220+5556A>C (n.*220+5556A>C)
c.172A>C (p.Asn58His)
c.199A>C (p.Asn67His)
c.1054A>C (p.Asn352His)
c.868A>C (p.Asn290His)
c.787A>C (p.Asn263His)
c.493A>C (p.Asn165His)
c.874A>C (p.Asn292His)
2g.48688669T>ACA426124700GTF2A1L,LHCGR,STON1-GTF2A1Lc.1128A>T (p.Gly376=)
c.948-530A>T (n.948-530A>T)
c.3441+16989T>A (n.3441+16989T>A)
c.948-86A>T (n.948-86A>T)
c.1047A>T (p.Gly349=)
c.276+16989T>A (n.276+16989T>A)
c.*220+5555A>T (n.*220+5555A>T)
c.171A>T (p.Gly57=)
c.198A>T (p.Gly66=)
c.1053A>T (p.Gly351=)
c.867A>T (p.Gly289=)
c.786A>T (p.Gly262=)
c.492A>T (p.Gly164=)
c.873A>T (p.Gly291=)
2g.48688669T>CCA1653078GTF2A1L,LHCGR,STON1-GTF2A1Lc.1128A>G (p.Gly376=)
c.948-530A>G (n.948-530A>G)
c.3441+16989T>C (n.3441+16989T>C)
c.948-86A>G (n.948-86A>G)
c.1047A>G (p.Gly349=)
c.276+16989T>C (n.276+16989T>C)
c.*220+5555A>G (n.*220+5555A>G)
c.171A>G (p.Gly57=)
c.198A>G (p.Gly66=)
c.1053A>G (p.Gly351=)
c.867A>G (p.Gly289=)
c.786A>G (p.Gly262=)
c.492A>G (p.Gly164=)
c.873A>G (p.Gly291=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688669T>GCA426124701GTF2A1L,LHCGR,STON1-GTF2A1Lc.1128A>C (p.Gly376=)
c.948-530A>C (n.948-530A>C)
c.3441+16989T>G (n.3441+16989T>G)
c.948-86A>C (n.948-86A>C)
c.1047A>C (p.Gly349=)
c.276+16989T>G (n.276+16989T>G)
c.*220+5555A>C (n.*220+5555A>C)
c.171A>C (p.Gly57=)
c.198A>C (p.Gly66=)
c.1053A>C (p.Gly351=)
c.867A>C (p.Gly289=)
c.786A>C (p.Gly262=)
c.492A>C (p.Gly164=)
c.873A>C (p.Gly291=)
2g.48688669T=CA1248601226GTF2A1L,LHCGR,STON1-GTF2A1Lc.1128A= (p.Gly376=)
c.948-530A= (n.948-530A=)
c.3441+16989T= (n.3441+16989T=)
c.948-86A= (n.948-86A=)
c.1047A= (p.Gly349=)
c.276+16989T= (n.276+16989T=)
c.*220+5555A= (n.*220+5555A=)
c.171A= (p.Gly57=)
c.198A= (p.Gly66=)
c.1053A= (p.Gly351=)
c.867A= (p.Gly289=)
c.786A= (p.Gly262=)
c.492A= (p.Gly164=)
c.873A= (p.Gly291=)
2g.48688670C>ACA346749524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1127G>T (p.Gly376Val)
c.948-531G>T (n.948-531G>T)
c.3441+16990C>A (n.3441+16990C>A)
c.948-87G>T (n.948-87G>T)
c.1046G>T (p.Gly349Val)
c.276+16990C>A (n.276+16990C>A)
c.*220+5554G>T (n.*220+5554G>T)
c.170G>T (p.Gly57Val)
c.197G>T (p.Gly66Val)
c.1052G>T (p.Gly351Val)
c.866G>T (p.Gly289Val)
c.785G>T (p.Gly262Val)
c.491G>T (p.Gly164Val)
c.872G>T (p.Gly291Val)
2g.48688670C=CA1248601227GTF2A1L,LHCGR,STON1-GTF2A1Lc.1127G= (p.Gly376=)
c.948-531G= (n.948-531G=)
c.3441+16990C= (n.3441+16990C=)
c.948-87G= (n.948-87G=)
c.1046G= (p.Gly349=)
c.276+16990C= (n.276+16990C=)
c.*220+5554G= (n.*220+5554G=)
c.170G= (p.Gly57=)
c.197G= (p.Gly66=)
c.1052G= (p.Gly351=)
c.866G= (p.Gly289=)
c.785G= (p.Gly262=)
c.491G= (p.Gly164=)
c.872G= (p.Gly291=)
2g.48688670C>GCA346749526GTF2A1L,LHCGR,STON1-GTF2A1Lc.1127G>C (p.Gly376Ala)
c.948-531G>C (n.948-531G>C)
c.3441+16990C>G (n.3441+16990C>G)
c.948-87G>C (n.948-87G>C)
c.1046G>C (p.Gly349Ala)
c.276+16990C>G (n.276+16990C>G)
c.*220+5554G>C (n.*220+5554G>C)
c.170G>C (p.Gly57Ala)
c.197G>C (p.Gly66Ala)
c.1052G>C (p.Gly351Ala)
c.866G>C (p.Gly289Ala)
c.785G>C (p.Gly262Ala)
c.491G>C (p.Gly164Ala)
c.872G>C (p.Gly291Ala)
2g.48688670C>TCA46753255GTF2A1L,LHCGR,STON1-GTF2A1Lc.1127G>A (p.Gly376Glu)
c.948-531G>A (n.948-531G>A)
c.3441+16990C>T (n.3441+16990C>T)
c.948-87G>A (n.948-87G>A)
c.1046G>A (p.Gly349Glu)
c.276+16990C>T (n.276+16990C>T)
c.*220+5554G>A (n.*220+5554G>A)
c.170G>A (p.Gly57Glu)
c.197G>A (p.Gly66Glu)
c.1052G>A (p.Gly351Glu)
c.866G>A (p.Gly289Glu)
c.785G>A (p.Gly262Glu)
c.491G>A (p.Gly164Glu)
c.872G>A (p.Gly291Glu)
 dbSNP COSMIC
2g.48688671C>ACA346749528GTF2A1L,LHCGR,STON1-GTF2A1Lc.1126G>T (p.Gly376Ter)
c.948-532G>T (n.948-532G>T)
c.3441+16991C>A (n.3441+16991C>A)
c.948-88G>T (n.948-88G>T)
c.1045G>T (p.Gly349Ter)
c.276+16991C>A (n.276+16991C>A)
c.*220+5553G>T (n.*220+5553G>T)
c.169G>T (p.Gly57Ter)
c.196G>T (p.Gly66Ter)
c.1051G>T (p.Gly351Ter)
c.865G>T (p.Gly289Ter)
c.784G>T (p.Gly262Ter)
c.490G>T (p.Gly164Ter)
c.871G>T (p.Gly291Ter)
2g.48688671C>GCA346749533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1126G>C (p.Gly376Arg)
c.948-532G>C (n.948-532G>C)
c.3441+16991C>G (n.3441+16991C>G)
c.948-88G>C (n.948-88G>C)
c.1045G>C (p.Gly349Arg)
c.276+16991C>G (n.276+16991C>G)
c.*220+5553G>C (n.*220+5553G>C)
c.169G>C (p.Gly57Arg)
c.196G>C (p.Gly66Arg)
c.1051G>C (p.Gly351Arg)
c.865G>C (p.Gly289Arg)
c.784G>C (p.Gly262Arg)
c.490G>C (p.Gly164Arg)
c.871G>C (p.Gly291Arg)
2g.48688671C>TCA346749535GTF2A1L,LHCGR,STON1-GTF2A1Lc.1126G>A (p.Gly376Arg)
c.948-532G>A (n.948-532G>A)
c.3441+16991C>T (n.3441+16991C>T)
c.948-88G>A (n.948-88G>A)
c.1045G>A (p.Gly349Arg)
c.276+16991C>T (n.276+16991C>T)
c.*220+5553G>A (n.*220+5553G>A)
c.169G>A (p.Gly57Arg)
c.196G>A (p.Gly66Arg)
c.1051G>A (p.Gly351Arg)
c.865G>A (p.Gly289Arg)
c.784G>A (p.Gly262Arg)
c.490G>A (p.Gly164Arg)
c.871G>A (p.Gly291Arg)
2g.48688672C>ACA346749537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1125G>T (p.Met375Ile)
c.948-533G>T (n.948-533G>T)
c.3441+16992C>A (n.3441+16992C>A)
c.948-89G>T (n.948-89G>T)
c.1044G>T (p.Met348Ile)
c.276+16992C>A (n.276+16992C>A)
c.*220+5552G>T (n.*220+5552G>T)
c.168G>T (p.Met56Ile)
c.195G>T (p.Met65Ile)
c.1050G>T (p.Met350Ile)
c.864G>T (p.Met288Ile)
c.783G>T (p.Met261Ile)
c.489G>T (p.Met163Ile)
c.870G>T (p.Met290Ile)
 dbSNP
2g.48688672C>GCA346749538GTF2A1L,LHCGR,STON1-GTF2A1Lc.1125G>C (p.Met375Ile)
c.948-533G>C (n.948-533G>C)
c.3441+16992C>G (n.3441+16992C>G)
c.948-89G>C (n.948-89G>C)
c.1044G>C (p.Met348Ile)
c.276+16992C>G (n.276+16992C>G)
c.*220+5552G>C (n.*220+5552G>C)
c.168G>C (p.Met56Ile)
c.195G>C (p.Met65Ile)
c.1050G>C (p.Met350Ile)
c.864G>C (p.Met288Ile)
c.783G>C (p.Met261Ile)
c.489G>C (p.Met163Ile)
c.870G>C (p.Met290Ile)
2g.48688672C>TCA346749540GTF2A1L,LHCGR,STON1-GTF2A1Lc.1125G>A (p.Met375Ile)
c.948-533G>A (n.948-533G>A)
c.3441+16992C>T (n.3441+16992C>T)
c.948-89G>A (n.948-89G>A)
c.1044G>A (p.Met348Ile)
c.276+16992C>T (n.276+16992C>T)
c.*220+5552G>A (n.*220+5552G>A)
c.168G>A (p.Met56Ile)
c.195G>A (p.Met65Ile)
c.1050G>A (p.Met350Ile)
c.864G>A (p.Met288Ile)
c.783G>A (p.Met261Ile)
c.489G>A (p.Met163Ile)
c.870G>A (p.Met290Ile)
2g.48688673A=CA1248601228GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T= (p.Met375=)
c.948-534T= (n.948-534T=)
c.3441+16993A= (n.3441+16993A=)
c.948-90T= (n.948-90T=)
c.1043T= (p.Met348=)
c.276+16993A= (n.276+16993A=)
c.*220+5551T= (n.*220+5551T=)
c.167T= (p.Met56=)
c.194T= (p.Met65=)
c.1049T= (p.Met350=)
c.863T= (p.Met288=)
c.782T= (p.Met261=)
c.488T= (p.Met163=)
c.869T= (p.Met290=)
2g.48688673A>CCA346749542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T>G (p.Met375Arg)
c.948-534T>G (n.948-534T>G)
c.3441+16993A>C (n.3441+16993A>C)
c.948-90T>G (n.948-90T>G)
c.1043T>G (p.Met348Arg)
c.276+16993A>C (n.276+16993A>C)
c.*220+5551T>G (n.*220+5551T>G)
c.167T>G (p.Met56Arg)
c.194T>G (p.Met65Arg)
c.1049T>G (p.Met350Arg)
c.863T>G (p.Met288Arg)
c.782T>G (p.Met261Arg)
c.488T>G (p.Met163Arg)
c.869T>G (p.Met290Arg)
2g.48688673A>GCA346749545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T>C (p.Met375Thr)
c.948-534T>C (n.948-534T>C)
c.3441+16993A>G (n.3441+16993A>G)
c.948-90T>C (n.948-90T>C)
c.1043T>C (p.Met348Thr)
c.276+16993A>G (n.276+16993A>G)
c.*220+5551T>C (n.*220+5551T>C)
c.167T>C (p.Met56Thr)
c.194T>C (p.Met65Thr)
c.1049T>C (p.Met350Thr)
c.863T>C (p.Met288Thr)
c.782T>C (p.Met261Thr)
c.488T>C (p.Met163Thr)
c.869T>C (p.Met290Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.48688673A>TCA346749548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1124T>A (p.Met375Lys)
c.948-534T>A (n.948-534T>A)
c.3441+16993A>T (n.3441+16993A>T)
c.948-90T>A (n.948-90T>A)
c.1043T>A (p.Met348Lys)
c.276+16993A>T (n.276+16993A>T)
c.*220+5551T>A (n.*220+5551T>A)
c.167T>A (p.Met56Lys)
c.194T>A (p.Met65Lys)
c.1049T>A (p.Met350Lys)
c.863T>A (p.Met288Lys)
c.782T>A (p.Met261Lys)
c.488T>A (p.Met163Lys)
c.869T>A (p.Met290Lys)

Number of alleles fetched