Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688553A= | CA1248601184 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1244T= (p.Ile415=) c.948-414T= (n.948-414T=) c.3441+16873A= (n.3441+16873A=) c.978T= (p.His326=) c.1163T= (p.Ile388=) c.276+16873A= (n.276+16873A=) c.*220+5671T= (n.*220+5671T=) c.287T= (p.Ile96=) c.314T= (p.Ile105=) c.1169T= (p.Ile390=) c.983T= (p.Ile328=) c.902T= (p.Ile301=) c.608T= (p.Ile203=) c.989T= (p.Ile330=) | |
2 | g.48688553A>C | CA346748484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1244T>G (p.Ile415Arg) c.948-414T>G (n.948-414T>G) c.3441+16873A>C (n.3441+16873A>C) c.978T>G (p.His326Gln) c.1163T>G (p.Ile388Arg) c.276+16873A>C (n.276+16873A>C) c.*220+5671T>G (n.*220+5671T>G) c.287T>G (p.Ile96Arg) c.314T>G (p.Ile105Arg) c.1169T>G (p.Ile390Arg) c.983T>G (p.Ile328Arg) c.902T>G (p.Ile301Arg) c.608T>G (p.Ile203Arg) c.989T>G (p.Ile330Arg) | |
2 | g.48688553A>G | CA346748485 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1244T>C (p.Ile415Thr) c.948-414T>C (n.948-414T>C) c.3441+16873A>G (n.3441+16873A>G) c.978T>C (p.His326=) c.1163T>C (p.Ile388Thr) c.276+16873A>G (n.276+16873A>G) c.*220+5671T>C (n.*220+5671T>C) c.287T>C (p.Ile96Thr) c.314T>C (p.Ile105Thr) c.1169T>C (p.Ile390Thr) c.983T>C (p.Ile328Thr) c.902T>C (p.Ile301Thr) c.608T>C (p.Ile203Thr) c.989T>C (p.Ile330Thr) | |
2 | g.48688553A>T | CA346748487 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1244T>A (p.Ile415Lys) c.948-414T>A (n.948-414T>A) c.3441+16873A>T (n.3441+16873A>T) c.978T>A (p.His326Gln) c.1163T>A (p.Ile388Lys) c.276+16873A>T (n.276+16873A>T) c.*220+5671T>A (n.*220+5671T>A) c.287T>A (p.Ile96Lys) c.314T>A (p.Ile105Lys) c.1169T>A (p.Ile390Lys) c.983T>A (p.Ile328Lys) c.902T>A (p.Ile301Lys) c.608T>A (p.Ile203Lys) c.989T>A (p.Ile330Lys) | |
2 | g.48688554T>A | CA346748489 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1243A>T (p.Ile415Leu) c.948-415A>T (n.948-415A>T) c.3441+16874T>A (n.3441+16874T>A) c.977A>T (p.His326Leu) c.1162A>T (p.Ile388Leu) c.276+16874T>A (n.276+16874T>A) c.*220+5670A>T (n.*220+5670A>T) c.286A>T (p.Ile96Leu) c.313A>T (p.Ile105Leu) c.1168A>T (p.Ile390Leu) c.982A>T (p.Ile328Leu) c.901A>T (p.Ile301Leu) c.607A>T (p.Ile203Leu) c.988A>T (p.Ile330Leu) | |
2 | g.48688554T>C | CA346748492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1243A>G (p.Ile415Val) c.948-415A>G (n.948-415A>G) c.3441+16874T>C (n.3441+16874T>C) c.977A>G (p.His326Arg) c.1162A>G (p.Ile388Val) c.276+16874T>C (n.276+16874T>C) c.*220+5670A>G (n.*220+5670A>G) c.286A>G (p.Ile96Val) c.313A>G (p.Ile105Val) c.1168A>G (p.Ile390Val) c.982A>G (p.Ile328Val) c.901A>G (p.Ile301Val) c.607A>G (p.Ile203Val) c.988A>G (p.Ile330Val) | |
2 | g.48688554T>G | CA346748494 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1243A>C (p.Ile415Leu) c.948-415A>C (n.948-415A>C) c.3441+16874T>G (n.3441+16874T>G) c.977A>C (p.His326Pro) c.1162A>C (p.Ile388Leu) c.276+16874T>G (n.276+16874T>G) c.*220+5670A>C (n.*220+5670A>C) c.286A>C (p.Ile96Leu) c.313A>C (p.Ile105Leu) c.1168A>C (p.Ile390Leu) c.982A>C (p.Ile328Leu) c.901A>C (p.Ile301Leu) c.607A>C (p.Ile203Leu) c.988A>C (p.Ile330Leu) | |
2 | g.48688556_48688600dup | CA1248601185 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688555G>A | CA346748502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1242C>T (p.Leu414=) c.948-416C>T (n.948-416C>T) c.3441+16875G>A (n.3441+16875G>A) c.976C>T (p.His326Tyr) c.1161C>T (p.Leu387=) c.276+16875G>A (n.276+16875G>A) c.*220+5669C>T (n.*220+5669C>T) c.285C>T (p.Leu95=) c.312C>T (p.Leu104=) c.1167C>T (p.Leu389=) c.981C>T (p.Leu327=) c.900C>T (p.Leu300=) c.606C>T (p.Leu202=) c.987C>T (p.Leu329=) | |
2 | g.48688555G>C | CA346748500 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1242C>G (p.Leu414=) c.948-416C>G (n.948-416C>G) c.3441+16875G>C (n.3441+16875G>C) c.976C>G (p.His326Asp) c.1161C>G (p.Leu387=) c.276+16875G>C (n.276+16875G>C) c.*220+5669C>G (n.*220+5669C>G) c.285C>G (p.Leu95=) c.312C>G (p.Leu104=) c.1167C>G (p.Leu389=) c.981C>G (p.Leu327=) c.900C>G (p.Leu300=) c.606C>G (p.Leu202=) c.987C>G (p.Leu329=) | |
2 | g.48688555G>T | CA346748498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1242C>A (p.Leu414=) c.948-416C>A (n.948-416C>A) c.3441+16875G>T (n.3441+16875G>T) c.976C>A (p.His326Asn) c.1161C>A (p.Leu387=) c.276+16875G>T (n.276+16875G>T) c.*220+5669C>A (n.*220+5669C>A) c.285C>A (p.Leu95=) c.312C>A (p.Leu104=) c.1167C>A (p.Leu389=) c.981C>A (p.Leu327=) c.900C>A (p.Leu300=) c.606C>A (p.Leu202=) c.987C>A (p.Leu329=) | dbSNP |
2 | g.48688556A>C | CA346748504 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1241T>G (p.Leu414Arg) c.948-417T>G (n.948-417T>G) c.3441+16876A>C (n.3441+16876A>C) c.975T>G (p.Ala325=) c.1160T>G (p.Leu387Arg) c.276+16876A>C (n.276+16876A>C) c.*220+5668T>G (n.*220+5668T>G) c.284T>G (p.Leu95Arg) c.311T>G (p.Leu104Arg) c.1166T>G (p.Leu389Arg) c.980T>G (p.Leu327Arg) c.899T>G (p.Leu300Arg) c.605T>G (p.Leu202Arg) c.986T>G (p.Leu329Arg) | |
2 | g.48688556A>G | CA346748507 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1241T>C (p.Leu414Pro) c.948-417T>C (n.948-417T>C) c.3441+16876A>G (n.3441+16876A>G) c.975T>C (p.Ala325=) c.1160T>C (p.Leu387Pro) c.276+16876A>G (n.276+16876A>G) c.*220+5668T>C (n.*220+5668T>C) c.284T>C (p.Leu95Pro) c.311T>C (p.Leu104Pro) c.1166T>C (p.Leu389Pro) c.980T>C (p.Leu327Pro) c.899T>C (p.Leu300Pro) c.605T>C (p.Leu202Pro) c.986T>C (p.Leu329Pro) | gnomAD v4 |
2 | g.48688556A>T | CA346748509 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1241T>A (p.Leu414His) c.948-417T>A (n.948-417T>A) c.3441+16876A>T (n.3441+16876A>T) c.975T>A (p.Ala325=) c.1160T>A (p.Leu387His) c.276+16876A>T (n.276+16876A>T) c.*220+5668T>A (n.*220+5668T>A) c.284T>A (p.Leu95His) c.311T>A (p.Leu104His) c.1166T>A (p.Leu389His) c.980T>A (p.Leu327His) c.899T>A (p.Leu300His) c.605T>A (p.Leu202His) c.986T>A (p.Leu329His) | |
2 | g.48688557G>A | CA346748512 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1240C>T (p.Leu414Phe) c.948-418C>T (n.948-418C>T) c.3441+16877G>A (n.3441+16877G>A) c.974C>T (p.Ala325Val) c.1159C>T (p.Leu387Phe) c.276+16877G>A (n.276+16877G>A) c.*220+5667C>T (n.*220+5667C>T) c.283C>T (p.Leu95Phe) c.310C>T (p.Leu104Phe) c.1165C>T (p.Leu389Phe) c.979C>T (p.Leu327Phe) c.898C>T (p.Leu300Phe) c.604C>T (p.Leu202Phe) c.985C>T (p.Leu329Phe) | |
2 | g.48688557G>C | CA346748513 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1240C>G (p.Leu414Val) c.948-418C>G (n.948-418C>G) c.3441+16877G>C (n.3441+16877G>C) c.974C>G (p.Ala325Gly) c.1159C>G (p.Leu387Val) c.276+16877G>C (n.276+16877G>C) c.*220+5667C>G (n.*220+5667C>G) c.283C>G (p.Leu95Val) c.310C>G (p.Leu104Val) c.1165C>G (p.Leu389Val) c.979C>G (p.Leu327Val) c.898C>G (p.Leu300Val) c.604C>G (p.Leu202Val) c.985C>G (p.Leu329Val) | |
2 | g.48688557G>T | CA346748515 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1240C>A (p.Leu414Ile) c.948-418C>A (n.948-418C>A) c.3441+16877G>T (n.3441+16877G>T) c.974C>A (p.Ala325Asp) c.1159C>A (p.Leu387Ile) c.276+16877G>T (n.276+16877G>T) c.*220+5667C>A (n.*220+5667C>A) c.283C>A (p.Leu95Ile) c.310C>A (p.Leu104Ile) c.1165C>A (p.Leu389Ile) c.979C>A (p.Leu327Ile) c.898C>A (p.Leu300Ile) c.604C>A (p.Leu202Ile) c.985C>A (p.Leu329Ile) | |
2 | g.48688558C>A | CA1653059 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1239G>T (p.Leu413=) c.948-419G>T (n.948-419G>T) c.3441+16878C>A (n.3441+16878C>A) c.973G>T (p.Ala325Ser) c.1158G>T (p.Leu386=) c.276+16878C>A (n.276+16878C>A) c.*220+5666G>T (n.*220+5666G>T) c.282G>T (p.Leu94=) c.309G>T (p.Leu103=) c.1164G>T (p.Leu388=) c.978G>T (p.Leu326=) c.897G>T (p.Leu299=) c.603G>T (p.Leu201=) c.984G>T (p.Leu328=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.48688558C= | CA1248601186 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1239G= (p.Leu413=) c.948-419G= (n.948-419G=) c.3441+16878C= (n.3441+16878C=) c.973G= (p.Ala325=) c.1158G= (p.Leu386=) c.276+16878C= (n.276+16878C=) c.*220+5666G= (n.*220+5666G=) c.282G= (p.Leu94=) c.309G= (p.Leu103=) c.1164G= (p.Leu388=) c.978G= (p.Leu326=) c.897G= (p.Leu299=) c.603G= (p.Leu201=) c.984G= (p.Leu328=) | |
2 | g.48688558C>G | CA346748520 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1239G>C (p.Leu413=) c.948-419G>C (n.948-419G>C) c.3441+16878C>G (n.3441+16878C>G) c.973G>C (p.Ala325Pro) c.1158G>C (p.Leu386=) c.276+16878C>G (n.276+16878C>G) c.*220+5666G>C (n.*220+5666G>C) c.282G>C (p.Leu94=) c.309G>C (p.Leu103=) c.1164G>C (p.Leu388=) c.978G>C (p.Leu326=) c.897G>C (p.Leu299=) c.603G>C (p.Leu201=) c.984G>C (p.Leu328=) | |
2 | g.48688558C>T | CA346748518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1239G>A (p.Leu413=) c.948-419G>A (n.948-419G>A) c.3441+16878C>T (n.3441+16878C>T) c.973G>A (p.Ala325Thr) c.1158G>A (p.Leu386=) c.276+16878C>T (n.276+16878C>T) c.*220+5666G>A (n.*220+5666G>A) c.282G>A (p.Leu94=) c.309G>A (p.Leu103=) c.1164G>A (p.Leu388=) c.978G>A (p.Leu326=) c.897G>A (p.Leu299=) c.603G>A (p.Leu201=) c.984G>A (p.Leu328=) | |
2 | g.48688559A>C | CA346748522 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1238T>G (p.Leu413Arg) c.948-420T>G (n.948-420T>G) c.3441+16879A>C (n.3441+16879A>C) c.972T>G (p.Ala324=) c.1157T>G (p.Leu386Arg) c.276+16879A>C (n.276+16879A>C) c.*220+5665T>G (n.*220+5665T>G) c.281T>G (p.Leu94Arg) c.308T>G (p.Leu103Arg) c.1163T>G (p.Leu388Arg) c.977T>G (p.Leu326Arg) c.896T>G (p.Leu299Arg) c.602T>G (p.Leu201Arg) c.983T>G (p.Leu328Arg) | |
2 | g.48688559A>G | CA346748525 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1238T>C (p.Leu413Pro) c.948-420T>C (n.948-420T>C) c.3441+16879A>G (n.3441+16879A>G) c.972T>C (p.Ala324=) c.1157T>C (p.Leu386Pro) c.276+16879A>G (n.276+16879A>G) c.*220+5665T>C (n.*220+5665T>C) c.281T>C (p.Leu94Pro) c.308T>C (p.Leu103Pro) c.1163T>C (p.Leu388Pro) c.977T>C (p.Leu326Pro) c.896T>C (p.Leu299Pro) c.602T>C (p.Leu201Pro) c.983T>C (p.Leu328Pro) | |
2 | g.48688559A>T | CA346748528 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1238T>A (p.Leu413Gln) c.948-420T>A (n.948-420T>A) c.3441+16879A>T (n.3441+16879A>T) c.972T>A (p.Ala324=) c.1157T>A (p.Leu386Gln) c.276+16879A>T (n.276+16879A>T) c.*220+5665T>A (n.*220+5665T>A) c.281T>A (p.Leu94Gln) c.308T>A (p.Leu103Gln) c.1163T>A (p.Leu388Gln) c.977T>A (p.Leu326Gln) c.896T>A (p.Leu299Gln) c.602T>A (p.Leu201Gln) c.983T>A (p.Leu328Gln) | |
2 | g.48688560G>A | CA346748534 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1237C>T (p.Leu413=) c.948-421C>T (n.948-421C>T) c.3441+16880G>A (n.3441+16880G>A) c.971C>T (p.Ala324Val) c.1156C>T (p.Leu386=) c.276+16880G>A (n.276+16880G>A) c.*220+5664C>T (n.*220+5664C>T) c.280C>T (p.Leu94=) c.307C>T (p.Leu103=) c.1162C>T (p.Leu388=) c.976C>T (p.Leu326=) c.895C>T (p.Leu299=) c.601C>T (p.Leu201=) c.982C>T (p.Leu328=) | |
2 | g.48688560G>C | CA346748537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1237C>G (p.Leu413Val) c.948-421C>G (n.948-421C>G) c.3441+16880G>C (n.3441+16880G>C) c.971C>G (p.Ala324Gly) c.1156C>G (p.Leu386Val) c.276+16880G>C (n.276+16880G>C) c.*220+5664C>G (n.*220+5664C>G) c.280C>G (p.Leu94Val) c.307C>G (p.Leu103Val) c.1162C>G (p.Leu388Val) c.976C>G (p.Leu326Val) c.895C>G (p.Leu299Val) c.601C>G (p.Leu201Val) c.982C>G (p.Leu328Val) | |
2 | g.48688560G>T | CA346748539 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1237C>A (p.Leu413Met) c.948-421C>A (n.948-421C>A) c.3441+16880G>T (n.3441+16880G>T) c.971C>A (p.Ala324Asp) c.1156C>A (p.Leu386Met) c.276+16880G>T (n.276+16880G>T) c.*220+5664C>A (n.*220+5664C>A) c.280C>A (p.Leu94Met) c.307C>A (p.Leu103Met) c.1162C>A (p.Leu388Met) c.976C>A (p.Leu326Met) c.895C>A (p.Leu299Met) c.601C>A (p.Leu201Met) c.982C>A (p.Leu328Met) | |
2 | g.48688561C>A | CA346748541 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1236G>T (p.Leu412=) c.948-422G>T (n.948-422G>T) c.3441+16881C>A (n.3441+16881C>A) c.970G>T (p.Ala324Ser) c.1155G>T (p.Leu385=) c.276+16881C>A (n.276+16881C>A) c.*220+5663G>T (n.*220+5663G>T) c.279G>T (p.Leu93=) c.306G>T (p.Leu102=) c.1161G>T (p.Leu387=) c.975G>T (p.Leu325=) c.894G>T (p.Leu298=) c.600G>T (p.Leu200=) c.981G>T (p.Leu327=) | |
2 | g.48688561C>G | CA346748547 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1236G>C (p.Leu412=) c.948-422G>C (n.948-422G>C) c.3441+16881C>G (n.3441+16881C>G) c.970G>C (p.Ala324Pro) c.1155G>C (p.Leu385=) c.276+16881C>G (n.276+16881C>G) c.*220+5663G>C (n.*220+5663G>C) c.279G>C (p.Leu93=) c.306G>C (p.Leu102=) c.1161G>C (p.Leu387=) c.975G>C (p.Leu325=) c.894G>C (p.Leu298=) c.600G>C (p.Leu200=) c.981G>C (p.Leu327=) | |
2 | g.48688561C>T | CA346748549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1236G>A (p.Leu412=) c.948-422G>A (n.948-422G>A) c.3441+16881C>T (n.3441+16881C>T) c.970G>A (p.Ala324Thr) c.1155G>A (p.Leu385=) c.276+16881C>T (n.276+16881C>T) c.*220+5663G>A (n.*220+5663G>A) c.279G>A (p.Leu93=) c.306G>A (p.Leu102=) c.1161G>A (p.Leu387=) c.975G>A (p.Leu325=) c.894G>A (p.Leu298=) c.600G>A (p.Leu200=) c.981G>A (p.Leu327=) | |
2 | g.48688562A>C | CA346748553 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1235T>G (p.Leu412Arg) c.948-423T>G (n.948-423T>G) c.3441+16882A>C (n.3441+16882A>C) c.969T>G (p.Ser323=) c.1154T>G (p.Leu385Arg) c.276+16882A>C (n.276+16882A>C) c.*220+5662T>G (n.*220+5662T>G) c.278T>G (p.Leu93Arg) c.305T>G (p.Leu102Arg) c.1160T>G (p.Leu387Arg) c.974T>G (p.Leu325Arg) c.893T>G (p.Leu298Arg) c.599T>G (p.Leu200Arg) c.980T>G (p.Leu327Arg) | |
2 | g.48688562A>G | CA346748555 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1235T>C (p.Leu412Pro) c.948-423T>C (n.948-423T>C) c.3441+16882A>G (n.3441+16882A>G) c.969T>C (p.Ser323=) c.1154T>C (p.Leu385Pro) c.276+16882A>G (n.276+16882A>G) c.*220+5662T>C (n.*220+5662T>C) c.278T>C (p.Leu93Pro) c.305T>C (p.Leu102Pro) c.1160T>C (p.Leu387Pro) c.974T>C (p.Leu325Pro) c.893T>C (p.Leu298Pro) c.599T>C (p.Leu200Pro) c.980T>C (p.Leu327Pro) | |
2 | g.48688562A>T | CA346748556 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1235T>A (p.Leu412Gln) c.948-423T>A (n.948-423T>A) c.3441+16882A>T (n.3441+16882A>T) c.969T>A (p.Ser323=) c.1154T>A (p.Leu385Gln) c.276+16882A>T (n.276+16882A>T) c.*220+5662T>A (n.*220+5662T>A) c.278T>A (p.Leu93Gln) c.305T>A (p.Leu102Gln) c.1160T>A (p.Leu387Gln) c.974T>A (p.Leu325Gln) c.893T>A (p.Leu298Gln) c.599T>A (p.Leu200Gln) c.980T>A (p.Leu327Gln) | gnomAD v4 |
2 | g.48688563G>A | CA346748562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1234C>T (p.Leu412=) c.948-424C>T (n.948-424C>T) c.3441+16883G>A (n.3441+16883G>A) c.968C>T (p.Ser323Phe) c.1153C>T (p.Leu385=) c.276+16883G>A (n.276+16883G>A) c.*220+5661C>T (n.*220+5661C>T) c.277C>T (p.Leu93=) c.304C>T (p.Leu102=) c.1159C>T (p.Leu387=) c.973C>T (p.Leu325=) c.892C>T (p.Leu298=) c.598C>T (p.Leu200=) c.979C>T (p.Leu327=) | |
2 | g.48688563G>C | CA1653060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1234C>G (p.Leu412Val) c.948-424C>G (n.948-424C>G) c.3441+16883G>C (n.3441+16883G>C) c.968C>G (p.Ser323Cys) c.1153C>G (p.Leu385Val) c.276+16883G>C (n.276+16883G>C) c.*220+5661C>G (n.*220+5661C>G) c.277C>G (p.Leu93Val) c.304C>G (p.Leu102Val) c.1159C>G (p.Leu387Val) c.973C>G (p.Leu325Val) c.892C>G (p.Leu298Val) c.598C>G (p.Leu200Val) c.979C>G (p.Leu327Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688563G= | CA1248601187 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1234C= (p.Leu412=) c.948-424C= (n.948-424C=) c.3441+16883G= (n.3441+16883G=) c.968C= (p.Ser323=) c.1153C= (p.Leu385=) c.276+16883G= (n.276+16883G=) c.*220+5661C= (n.*220+5661C=) c.277C= (p.Leu93=) c.304C= (p.Leu102=) c.1159C= (p.Leu387=) c.973C= (p.Leu325=) c.892C= (p.Leu298=) c.598C= (p.Leu200=) c.979C= (p.Leu327=) | |
2 | g.48688563G>T | CA346748560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1234C>A (p.Leu412Met) c.948-424C>A (n.948-424C>A) c.3441+16883G>T (n.3441+16883G>T) c.968C>A (p.Ser323Tyr) c.1153C>A (p.Leu385Met) c.276+16883G>T (n.276+16883G>T) c.*220+5661C>A (n.*220+5661C>A) c.277C>A (p.Leu93Met) c.304C>A (p.Leu102Met) c.1159C>A (p.Leu387Met) c.973C>A (p.Leu325Met) c.892C>A (p.Leu298Met) c.598C>A (p.Leu200Met) c.979C>A (p.Leu327Met) | |
2 | g.48688564A>C | CA346748565 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1233T>G (p.Tyr411Ter) c.948-425T>G (n.948-425T>G) c.3441+16884A>C (n.3441+16884A>C) c.967T>G (p.Ser323Ala) c.1152T>G (p.Tyr384Ter) c.276+16884A>C (n.276+16884A>C) c.*220+5660T>G (n.*220+5660T>G) c.276T>G (p.Tyr92Ter) c.303T>G (p.Tyr101Ter) c.1158T>G (p.Tyr386Ter) c.972T>G (p.Tyr324Ter) c.891T>G (p.Tyr297Ter) c.597T>G (p.Tyr199Ter) c.978T>G (p.Tyr326Ter) | |
2 | g.48688564A>G | CA346748572 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1233T>C (p.Tyr411=) c.948-425T>C (n.948-425T>C) c.3441+16884A>G (n.3441+16884A>G) c.967T>C (p.Ser323Pro) c.1152T>C (p.Tyr384=) c.276+16884A>G (n.276+16884A>G) c.*220+5660T>C (n.*220+5660T>C) c.276T>C (p.Tyr92=) c.303T>C (p.Tyr101=) c.1158T>C (p.Tyr386=) c.972T>C (p.Tyr324=) c.891T>C (p.Tyr297=) c.597T>C (p.Tyr199=) c.978T>C (p.Tyr326=) | gnomAD v4 |
2 | g.48688564A>T | CA346748574 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1233T>A (p.Tyr411Ter) c.948-425T>A (n.948-425T>A) c.3441+16884A>T (n.3441+16884A>T) c.967T>A (p.Ser323Thr) c.1152T>A (p.Tyr384Ter) c.276+16884A>T (n.276+16884A>T) c.*220+5660T>A (n.*220+5660T>A) c.276T>A (p.Tyr92Ter) c.303T>A (p.Tyr101Ter) c.1158T>A (p.Tyr386Ter) c.972T>A (p.Tyr324Ter) c.891T>A (p.Tyr297Ter) c.597T>A (p.Tyr199Ter) c.978T>A (p.Tyr326Ter) | |
2 | g.48688565T>A | CA346748577 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1232A>T (p.Tyr411Phe) c.948-426A>T (n.948-426A>T) c.3441+16885T>A (n.3441+16885T>A) c.966A>T (p.Leu322=) c.1151A>T (p.Tyr384Phe) c.276+16885T>A (n.276+16885T>A) c.*220+5659A>T (n.*220+5659A>T) c.275A>T (p.Tyr92Phe) c.302A>T (p.Tyr101Phe) c.1157A>T (p.Tyr386Phe) c.971A>T (p.Tyr324Phe) c.890A>T (p.Tyr297Phe) c.596A>T (p.Tyr199Phe) c.977A>T (p.Tyr326Phe) | |
2 | g.48688565T>C | CA346748579 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1232A>G (p.Tyr411Cys) c.948-426A>G (n.948-426A>G) c.3441+16885T>C (n.3441+16885T>C) c.966A>G (p.Leu322=) c.1151A>G (p.Tyr384Cys) c.276+16885T>C (n.276+16885T>C) c.*220+5659A>G (n.*220+5659A>G) c.275A>G (p.Tyr92Cys) c.302A>G (p.Tyr101Cys) c.1157A>G (p.Tyr386Cys) c.971A>G (p.Tyr324Cys) c.890A>G (p.Tyr297Cys) c.596A>G (p.Tyr199Cys) c.977A>G (p.Tyr326Cys) | |
2 | g.48688565T>G | CA346748581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1232A>C (p.Tyr411Ser) c.948-426A>C (n.948-426A>C) c.3441+16885T>G (n.3441+16885T>G) c.966A>C (p.Leu322=) c.1151A>C (p.Tyr384Ser) c.276+16885T>G (n.276+16885T>G) c.*220+5659A>C (n.*220+5659A>C) c.275A>C (p.Tyr92Ser) c.302A>C (p.Tyr101Ser) c.1157A>C (p.Tyr386Ser) c.971A>C (p.Tyr324Ser) c.890A>C (p.Tyr297Ser) c.596A>C (p.Tyr199Ser) c.977A>C (p.Tyr326Ser) | |
2 | g.48688566A>C | CA346748586 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1231T>G (p.Tyr411Asp) c.948-427T>G (n.948-427T>G) c.3441+16886A>C (n.3441+16886A>C) c.965T>G (p.Leu322Arg) c.1150T>G (p.Tyr384Asp) c.276+16886A>C (n.276+16886A>C) c.*220+5658T>G (n.*220+5658T>G) c.274T>G (p.Tyr92Asp) c.301T>G (p.Tyr101Asp) c.1156T>G (p.Tyr386Asp) c.970T>G (p.Tyr324Asp) c.889T>G (p.Tyr297Asp) c.595T>G (p.Tyr199Asp) c.976T>G (p.Tyr326Asp) | |
2 | g.48688566A>G | CA346748582 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1231T>C (p.Tyr411His) c.948-427T>C (n.948-427T>C) c.3441+16886A>G (n.3441+16886A>G) c.965T>C (p.Leu322Pro) c.1150T>C (p.Tyr384His) c.276+16886A>G (n.276+16886A>G) c.*220+5658T>C (n.*220+5658T>C) c.274T>C (p.Tyr92His) c.301T>C (p.Tyr101His) c.1156T>C (p.Tyr386His) c.970T>C (p.Tyr324His) c.889T>C (p.Tyr297His) c.595T>C (p.Tyr199His) c.976T>C (p.Tyr326His) | |
2 | g.48688566A>T | CA346748585 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1231T>A (p.Tyr411Asn) c.948-427T>A (n.948-427T>A) c.3441+16886A>T (n.3441+16886A>T) c.965T>A (p.Leu322Gln) c.1150T>A (p.Tyr384Asn) c.276+16886A>T (n.276+16886A>T) c.*220+5658T>A (n.*220+5658T>A) c.274T>A (p.Tyr92Asn) c.301T>A (p.Tyr101Asn) c.1156T>A (p.Tyr386Asn) c.970T>A (p.Tyr324Asn) c.889T>A (p.Tyr297Asn) c.595T>A (p.Tyr199Asn) c.976T>A (p.Tyr326Asn) | |
2 | g.48688567G>A | CA426124557 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1230C>T (p.Leu410=) c.948-428C>T (n.948-428C>T) c.3441+16887G>A (n.3441+16887G>A) c.964C>T (p.Leu322=) c.1149C>T (p.Leu383=) c.276+16887G>A (n.276+16887G>A) c.*220+5657C>T (n.*220+5657C>T) c.273C>T (p.Leu91=) c.300C>T (p.Leu100=) c.1155C>T (p.Leu385=) c.969C>T (p.Leu323=) c.888C>T (p.Leu296=) c.594C>T (p.Leu198=) c.975C>T (p.Leu325=) | |
2 | g.48688567G>C | CA1653061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1230C>G (p.Leu410=) c.948-428C>G (n.948-428C>G) c.3441+16887G>C (n.3441+16887G>C) c.964C>G (p.Leu322Val) c.1149C>G (p.Leu383=) c.276+16887G>C (n.276+16887G>C) c.*220+5657C>G (n.*220+5657C>G) c.273C>G (p.Leu91=) c.300C>G (p.Leu100=) c.1155C>G (p.Leu385=) c.969C>G (p.Leu323=) c.888C>G (p.Leu296=) c.594C>G (p.Leu198=) c.975C>G (p.Leu325=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688567G= | CA1248601188 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1230C= (p.Leu410=) c.948-428C= (n.948-428C=) c.3441+16887G= (n.3441+16887G=) c.964C= (p.Leu322=) c.1149C= (p.Leu383=) c.276+16887G= (n.276+16887G=) c.*220+5657C= (n.*220+5657C=) c.273C= (p.Leu91=) c.300C= (p.Leu100=) c.1155C= (p.Leu385=) c.969C= (p.Leu323=) c.888C= (p.Leu296=) c.594C= (p.Leu198=) c.975C= (p.Leu325=) | |
2 | g.48688567G>T | CA346748590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1230C>A (p.Leu410=) c.948-428C>A (n.948-428C>A) c.3441+16887G>T (n.3441+16887G>T) c.964C>A (p.Leu322Ile) c.1149C>A (p.Leu383=) c.276+16887G>T (n.276+16887G>T) c.*220+5657C>A (n.*220+5657C>A) c.273C>A (p.Leu91=) c.300C>A (p.Leu100=) c.1155C>A (p.Leu385=) c.969C>A (p.Leu323=) c.888C>A (p.Leu296=) c.594C>A (p.Leu198=) c.975C>A (p.Leu325=) | |
2 | g.48688568A>C | CA346748592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1229T>G (p.Leu410Arg) c.948-429T>G (n.948-429T>G) c.3441+16888A>C (n.3441+16888A>C) c.963T>G (p.Ala321=) c.1148T>G (p.Leu383Arg) c.276+16888A>C (n.276+16888A>C) c.*220+5656T>G (n.*220+5656T>G) c.272T>G (p.Leu91Arg) c.299T>G (p.Leu100Arg) c.1154T>G (p.Leu385Arg) c.968T>G (p.Leu323Arg) c.887T>G (p.Leu296Arg) c.593T>G (p.Leu198Arg) c.974T>G (p.Leu325Arg) | |
2 | g.48688568A>G | CA346748593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1229T>C (p.Leu410Pro) c.948-429T>C (n.948-429T>C) c.3441+16888A>G (n.3441+16888A>G) c.963T>C (p.Ala321=) c.1148T>C (p.Leu383Pro) c.276+16888A>G (n.276+16888A>G) c.*220+5656T>C (n.*220+5656T>C) c.272T>C (p.Leu91Pro) c.299T>C (p.Leu100Pro) c.1154T>C (p.Leu385Pro) c.968T>C (p.Leu323Pro) c.887T>C (p.Leu296Pro) c.593T>C (p.Leu198Pro) c.974T>C (p.Leu325Pro) | |
2 | g.48688568A>T | CA346748594 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1229T>A (p.Leu410His) c.948-429T>A (n.948-429T>A) c.3441+16888A>T (n.3441+16888A>T) c.963T>A (p.Ala321=) c.1148T>A (p.Leu383His) c.276+16888A>T (n.276+16888A>T) c.*220+5656T>A (n.*220+5656T>A) c.272T>A (p.Leu91His) c.299T>A (p.Leu100His) c.1154T>A (p.Leu385His) c.968T>A (p.Leu323His) c.887T>A (p.Leu296His) c.593T>A (p.Leu198His) c.974T>A (p.Leu325His) | |
2 | g.48688569G>A | CA346748600 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1228C>T (p.Leu410Phe) c.948-430C>T (n.948-430C>T) c.3441+16889G>A (n.3441+16889G>A) c.962C>T (p.Ala321Val) c.1147C>T (p.Leu383Phe) c.276+16889G>A (n.276+16889G>A) c.*220+5655C>T (n.*220+5655C>T) c.271C>T (p.Leu91Phe) c.298C>T (p.Leu100Phe) c.1153C>T (p.Leu385Phe) c.967C>T (p.Leu323Phe) c.886C>T (p.Leu296Phe) c.592C>T (p.Leu198Phe) c.973C>T (p.Leu325Phe) | |
2 | g.48688569G>C | CA346748596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1228C>G (p.Leu410Val) c.948-430C>G (n.948-430C>G) c.3441+16889G>C (n.3441+16889G>C) c.962C>G (p.Ala321Gly) c.1147C>G (p.Leu383Val) c.276+16889G>C (n.276+16889G>C) c.*220+5655C>G (n.*220+5655C>G) c.271C>G (p.Leu91Val) c.298C>G (p.Leu100Val) c.1153C>G (p.Leu385Val) c.967C>G (p.Leu323Val) c.886C>G (p.Leu296Val) c.592C>G (p.Leu198Val) c.973C>G (p.Leu325Val) | |
2 | g.48688569G>T | CA346748597 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1228C>A (p.Leu410Ile) c.948-430C>A (n.948-430C>A) c.3441+16889G>T (n.3441+16889G>T) c.962C>A (p.Ala321Asp) c.1147C>A (p.Leu383Ile) c.276+16889G>T (n.276+16889G>T) c.*220+5655C>A (n.*220+5655C>A) c.271C>A (p.Leu91Ile) c.298C>A (p.Leu100Ile) c.1153C>A (p.Leu385Ile) c.967C>A (p.Leu323Ile) c.886C>A (p.Leu296Ile) c.592C>A (p.Leu198Ile) c.973C>A (p.Leu325Ile) | gnomAD v4 |
2 | g.48688570C>A | CA346748603 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1227G>T (p.Gly409=) c.948-431G>T (n.948-431G>T) c.3441+16890C>A (n.3441+16890C>A) c.961G>T (p.Ala321Ser) c.1146G>T (p.Gly382=) c.276+16890C>A (n.276+16890C>A) c.*220+5654G>T (n.*220+5654G>T) c.270G>T (p.Gly90=) c.297G>T (p.Gly99=) c.1152G>T (p.Gly384=) c.966G>T (p.Gly322=) c.885G>T (p.Gly295=) c.591G>T (p.Gly197=) c.972G>T (p.Gly324=) | gnomAD v4 |
2 | g.48688570C= | CA1248601189 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1227G= (p.Gly409=) c.948-431G= (n.948-431G=) c.3441+16890C= (n.3441+16890C=) c.961G= (p.Ala321=) c.1146G= (p.Gly382=) c.276+16890C= (n.276+16890C=) c.*220+5654G= (n.*220+5654G=) c.270G= (p.Gly90=) c.297G= (p.Gly99=) c.1152G= (p.Gly384=) c.966G= (p.Gly322=) c.885G= (p.Gly295=) c.591G= (p.Gly197=) c.972G= (p.Gly324=) | |
2 | g.48688570C>G | CA346748604 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1227G>C (p.Gly409=) c.948-431G>C (n.948-431G>C) c.3441+16890C>G (n.3441+16890C>G) c.961G>C (p.Ala321Pro) c.1146G>C (p.Gly382=) c.276+16890C>G (n.276+16890C>G) c.*220+5654G>C (n.*220+5654G>C) c.270G>C (p.Gly90=) c.297G>C (p.Gly99=) c.1152G>C (p.Gly384=) c.966G>C (p.Gly322=) c.885G>C (p.Gly295=) c.591G>C (p.Gly197=) c.972G>C (p.Gly324=) | |
2 | g.48688570C>T | CA346748608 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1227G>A (p.Gly409=) c.948-431G>A (n.948-431G>A) c.3441+16890C>T (n.3441+16890C>T) c.961G>A (p.Ala321Thr) c.1146G>A (p.Gly382=) c.276+16890C>T (n.276+16890C>T) c.*220+5654G>A (n.*220+5654G>A) c.270G>A (p.Gly90=) c.297G>A (p.Gly99=) c.1152G>A (p.Gly384=) c.966G>A (p.Gly322=) c.885G>A (p.Gly295=) c.591G>A (p.Gly197=) c.972G>A (p.Gly324=) | dbSNP gnomAD v4 |
2 | g.48688571C>A | CA346748613 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1226G>T (p.Gly409Val) c.948-432G>T (n.948-432G>T) c.3441+16891C>A (n.3441+16891C>A) c.960G>T (p.Gly320=) c.1145G>T (p.Gly382Val) c.276+16891C>A (n.276+16891C>A) c.*220+5653G>T (n.*220+5653G>T) c.269G>T (p.Gly90Val) c.296G>T (p.Gly99Val) c.1151G>T (p.Gly384Val) c.965G>T (p.Gly322Val) c.884G>T (p.Gly295Val) c.590G>T (p.Gly197Val) c.971G>T (p.Gly324Val) | gnomAD v4 |
2 | g.48688571C>G | CA346748614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1226G>C (p.Gly409Ala) c.948-432G>C (n.948-432G>C) c.3441+16891C>G (n.3441+16891C>G) c.960G>C (p.Gly320=) c.1145G>C (p.Gly382Ala) c.276+16891C>G (n.276+16891C>G) c.*220+5653G>C (n.*220+5653G>C) c.269G>C (p.Gly90Ala) c.296G>C (p.Gly99Ala) c.1151G>C (p.Gly384Ala) c.965G>C (p.Gly322Ala) c.884G>C (p.Gly295Ala) c.590G>C (p.Gly197Ala) c.971G>C (p.Gly324Ala) | |
2 | g.48688571C>T | CA346748616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1226G>A (p.Gly409Glu) c.948-432G>A (n.948-432G>A) c.3441+16891C>T (n.3441+16891C>T) c.960G>A (p.Gly320=) c.1145G>A (p.Gly382Glu) c.276+16891C>T (n.276+16891C>T) c.*220+5653G>A (n.*220+5653G>A) c.269G>A (p.Gly90Glu) c.296G>A (p.Gly99Glu) c.1151G>A (p.Gly384Glu) c.965G>A (p.Gly322Glu) c.884G>A (p.Gly295Glu) c.590G>A (p.Gly197Glu) c.971G>A (p.Gly324Glu) | |
2 | g.48688572C>A | CA346748617 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1225G>T (p.Gly409Trp) c.948-433G>T (n.948-433G>T) c.3441+16892C>A (n.3441+16892C>A) c.959G>T (p.Gly320Val) c.1144G>T (p.Gly382Trp) c.276+16892C>A (n.276+16892C>A) c.*220+5652G>T (n.*220+5652G>T) c.268G>T (p.Gly90Trp) c.295G>T (p.Gly99Trp) c.1150G>T (p.Gly384Trp) c.964G>T (p.Gly322Trp) c.883G>T (p.Gly295Trp) c.589G>T (p.Gly197Trp) c.970G>T (p.Gly324Trp) | |
2 | g.48688572C= | CA1248601190 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1225G= (p.Gly409=) c.948-433G= (n.948-433G=) c.3441+16892C= (n.3441+16892C=) c.959G= (p.Gly320=) c.1144G= (p.Gly382=) c.276+16892C= (n.276+16892C=) c.*220+5652G= (n.*220+5652G=) c.268G= (p.Gly90=) c.295G= (p.Gly99=) c.1150G= (p.Gly384=) c.964G= (p.Gly322=) c.883G= (p.Gly295=) c.589G= (p.Gly197=) c.970G= (p.Gly324=) | |
2 | g.48688572C>G | CA346748619 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1225G>C (p.Gly409Arg) c.948-433G>C (n.948-433G>C) c.3441+16892C>G (n.3441+16892C>G) c.959G>C (p.Gly320Ala) c.1144G>C (p.Gly382Arg) c.276+16892C>G (n.276+16892C>G) c.*220+5652G>C (n.*220+5652G>C) c.268G>C (p.Gly90Arg) c.295G>C (p.Gly99Arg) c.1150G>C (p.Gly384Arg) c.964G>C (p.Gly322Arg) c.883G>C (p.Gly295Arg) c.589G>C (p.Gly197Arg) c.970G>C (p.Gly324Arg) | |
2 | g.48688572C>T | CA346748622 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1225G>A (p.Gly409Arg) c.948-433G>A (n.948-433G>A) c.3441+16892C>T (n.3441+16892C>T) c.959G>A (p.Gly320Glu) c.1144G>A (p.Gly382Arg) c.276+16892C>T (n.276+16892C>T) c.*220+5652G>A (n.*220+5652G>A) c.268G>A (p.Gly90Arg) c.295G>A (p.Gly99Arg) c.1150G>A (p.Gly384Arg) c.964G>A (p.Gly322Arg) c.883G>A (p.Gly295Arg) c.589G>A (p.Gly197Arg) c.970G>A (p.Gly324Arg) | dbSNP COSMIC |
2 | g.48688573C>A | CA346748624 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688573C= | CA1248601191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688573C>G | CA346748626 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688573C>T | CA1653062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688574A= | CA1248601192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688574A>C | CA346748628 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688574A>G | CA1653063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688574A>T | CA346748632 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688575T>A | CA346748634 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688575T>C | CA1653064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688575T>G | CA346748635 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688575T= | CA1248601193 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688576G>A | CA346748636 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688576G>C | CA346748637 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688576G>T | CA346748640 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688577C>A | CA346748646 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688577C>G | CA346748642 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688577C>T | CA346748644 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688578A>C | CA346748648 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688578A>G | CA346748649 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688578A>T | CA346748650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688579A= | CA1248601194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688579A>C | CA346748651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688579A>G | CA426124558 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688579A>T | CA346748653 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688580A= | CA1248601195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688580A>C | CA1653065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688580A>G | CA346748655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688580A>T | CA346748658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688581A>C | CA346748663 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688581A>G | CA346748665 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688581A>T | CA346748668 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688582G>A | CA346748670 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688582G>C | CA346748673 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688582G>T | CA346748677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688583T>A | CA346748678 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688583T>C | CA346748680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688583T>G | CA346748681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688583T= | CA1248601196 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688584C>A | CA346748682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688584C>G | CA346748683 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688584C>T | CA346748684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688585T>A | CA346748686 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688585T>C | CA346748690 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688585T>G | CA346748688 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688586G>A | CA346748693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688586G>C | CA346748696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688586G>T | CA346748698 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688587C>A | CA346748700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688587C>G | CA346748703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688587C>T | CA346748706 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688588A>C | CA346748709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688588A>G | CA426124559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688588A>T | CA346748710 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688589A>C | CA346748713 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688589A>G | CA346748715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688589A>T | CA346748718 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688590A= | CA1248601197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688590A>C | CA346748724 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688590A>G | CA346748723 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688590A>T | CA346748720 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688591G>A | CA426124560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688591G>C | CA426124561 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688591G>T | CA426124562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688592G>A | CA346748725 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688592G>C | CA346748726 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688592G>T | CA346748727 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688593A>C | CA346748728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688593A>G | CA346748729 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688593A>T | CA346748733 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688594G>A | CA426124563 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688594G>C | CA1653066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688594G= | CA1248601198 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688594G>T | CA426124564 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688595A= | CA1248601199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688595A>C | CA346748739 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688595A>G | CA346748742 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688595A>T | CA346748744 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688596G>A | CA346748748 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688596G>C | CA346748756 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688596G>T | CA346748757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688597A>C | CA346748762 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688597A>G | CA426124565 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688597A>T | CA346748760 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688598T>A | CA346748763 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688598T>C | CA346748767 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688598T>G | CA346748765 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688599T>A | CA346748769 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688599T>C | CA346748771 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688599T>G | CA346748773 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688600G>A | CA426124566 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688600G>C | CA346748777 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688600G>T | CA346748784 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688601C>A | CA346748785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688601C>G | CA346748787 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688601C>T | CA346748789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688602A>C | CA346748794 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688602A>G | CA346748796 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688602A>T | CA346748799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688603C>A | CA346748803 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688603C= | CA1248601200 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688603C>G | CA346748804 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688603C>T | CA346748808 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688604A= | CA1248601201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688604A>C | CA346748814 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688604A>G | CA123924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688604A>T | CA346748811 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688605T>A | CA346748815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688605T>C | CA1653067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688605T>G | CA346748820 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688605T= | CA1248601202 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688606G>A | CA426124567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688606G>C | CA426124568 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688606G>T | CA426124569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688607A>C | CA346748821 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688607A>G | CA346748823 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688607A>T | CA346748826 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688608G>A | CA346748828 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688608G>C | CA346748834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688608G>T | CA346748836 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688609A>C | CA346748838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688609A>G | CA426124570 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688609A>T | CA346748839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688610A>C | CA346748845 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688610A>G | CA346748846 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688610A>T | CA346748848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688611A= | CA1248601203 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688611A>C | CA346748853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688611A>G | CA346748856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688611A>T | CA346748851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688612A>C | CA426124573 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688612A>G | CA426124571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688612A>T | CA426124572 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688613C>A | CA346748860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688613C= | CA1248601204 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688613C>G | CA346748864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688613C>T | CA1653068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688614G>A | CA346748873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688614G>C | CA346748875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688614G>T | CA346748878 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688615A>C | CA426124574 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688615A>G | CA426124576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688615A>T | CA426124575 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688616G>A | CA346748926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688616G>C | CA346748928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688616G>T | CA346748930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688617G>A | CA346748932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688617G>C | CA346748935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688617G>T | CA346748938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688618C>A | CA426124577 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688618C>G | CA426124578 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688618C>T | CA426124579 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688619A= | CA1248601205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688619A>C | CA346748944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688619A>G | CA346748941 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688619A>T | CA346748940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688620C>A | CA346748947 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688620C= | CA1248601206 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688620C>G | CA346748954 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688620C>T | CA1653069 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688621T>A | CA426124580 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688621T>C | CA426124581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688621T>G | CA426124582 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688621T= | CA1248601207 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688622G>A | CA346748956 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688622G>C | CA346748957 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688622G= | CA1248601208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688622G>T | CA346748958 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688623T>A | CA346748959 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688623T>C | CA346748962 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688623T>G | CA346748964 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688624A= | CA1248601209 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688624A>C | CA426124583 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688624A>G | CA426124584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688624A>T | CA426124585 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688625A>C | CA346748967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688625A>G | CA346748972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688625A>T | CA346748974 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688626G>A | CA346748977 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688626G>C | CA346748981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688626G>T | CA346748979 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688627T>A | CA346748984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688627T>C | CA426124586 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688627T>G | CA346748986 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688628T>A | CA346748988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688628T>C | CA1653070 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688628T>G | CA346748989 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688628T= | CA1248601210 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688629T>A | CA346748993 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688629T>C | CA346748998 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688629T>G | CA346749000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688630G>A | CA426124587 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688630G>C | CA346749002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688630G= | CA1248601211 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688630G>T | CA346749004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688631T>A | CA346749008 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688631T>C | CA1653071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688631T>G | CA346749015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688631T= | CA1248601212 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688632A>C | CA346749031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688632A>G | CA346749016 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688632A>T | CA346749028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688633A>C | CA426124588 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688633A>G | CA426124590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688633A>T | CA426124589 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688634C>A | CA346749032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688634C= | CA1248601213 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688634C>G | CA346749033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688634C>T | CA1653072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688635G>A | CA46753204 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688635G>C | CA346749038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688635G= | CA1248601214 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688635G>T | CA1653073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688636A>C | CA346749043 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688636A>G | CA426124591 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688636A>T | CA346749046 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688637C>A | CA346749049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688637C= | CA1248601215 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688637C>G | CA346749060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688637C>T | CA346749063 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688638T>A | CA346749072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688638T>C | CA346749073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688638T>G | CA346749071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688639dup | CA532706168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688639T>A | CA426124592 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688639T>C | CA426124593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688639T>G | CA426124594 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688640G>A | CA346749074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688640G>C | CA1653075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688640G= | CA1248601216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688640G>T | CA1653074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688641T>A | CA346749078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688641T>C | CA346749091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688641T>G | CA346749096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688642C>A | CA426124596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688642C>G | CA426124597 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688642C>T | CA426124595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688643A= | CA1248601217 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688643A>C | CA346749104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688643A>G | CA346749105 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688643A>T | CA46753220 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688644G>A | CA426124669 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688644G>C | CA346749109 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688644G>T | CA346749110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688645G>A | CA426124670 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688645G>C | CA426124671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688645G>T | CA426124673 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688646A>C | CA346749114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688646A>G | CA346749132 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688646A>T | CA346749111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688647G>A | CA346749136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688647G>C | CA346749138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688647G>T | CA346749140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688648A>C | CA426124674 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688648A>G | CA426124675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688648A>T | CA426124677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688649A>C | CA346749144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688649A>G | CA346749147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688649A>T | CA346749150 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688650del | CA2552856205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688650C>A | CA346749154 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688650C= | CA1248601218 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688650C>G | CA346749158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688650C>T | CA346749156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688651A>C | CA346749177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688651A>G | CA426124678 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688651A>T | CA346749179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688652A>C | CA346749183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688652A>G | CA346749190 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688652A>T | CA346749197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688653A>C | CA346749432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688653A>G | CA346749431 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688653A>T | CA346749428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) |