UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688548A= | CA1248601182 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1249T= (p.Ser417=) c.948-409T= (n.948-409T=) c.3441+16868A= (n.3441+16868A=) c.983T= (p.Leu328=) c.1168T= (p.Ser390=) c.276+16868A= (n.276+16868A=) c.*220+5676T= (n.*220+5676T=) c.292T= (p.Ser98=) c.319T= (p.Ser107=) c.1174T= (p.Ser392=) c.988T= (p.Ser330=) c.907T= (p.Ser303=) c.613T= (p.Ser205=) c.994T= (p.Ser332=) | |
| 2 | g.48688548A>C | CA346748458 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1249T>G (p.Ser417Ala) c.948-409T>G (n.948-409T>G) c.3441+16868A>C (n.3441+16868A>C) c.983T>G (p.Leu328Arg) c.1168T>G (p.Ser390Ala) c.276+16868A>C (n.276+16868A>C) c.*220+5676T>G (n.*220+5676T>G) c.292T>G (p.Ser98Ala) c.319T>G (p.Ser107Ala) c.1174T>G (p.Ser392Ala) c.988T>G (p.Ser330Ala) c.907T>G (p.Ser303Ala) c.613T>G (p.Ser205Ala) c.994T>G (p.Ser332Ala) | |
| 2 | g.48688548A>G | CA46753120 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1249T>C (p.Ser417Pro) c.948-409T>C (n.948-409T>C) c.3441+16868A>G (n.3441+16868A>G) c.983T>C (p.Leu328Pro) c.1168T>C (p.Ser390Pro) c.276+16868A>G (n.276+16868A>G) c.*220+5676T>C (n.*220+5676T>C) c.292T>C (p.Ser98Pro) c.319T>C (p.Ser107Pro) c.1174T>C (p.Ser392Pro) c.988T>C (p.Ser330Pro) c.907T>C (p.Ser303Pro) c.613T>C (p.Ser205Pro) c.994T>C (p.Ser332Pro) | dbSNP |
| 2 | g.48688548A>T | CA346748461 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1249T>A (p.Ser417Thr) c.948-409T>A (n.948-409T>A) c.3441+16868A>T (n.3441+16868A>T) c.983T>A (p.Leu328His) c.1168T>A (p.Ser390Thr) c.276+16868A>T (n.276+16868A>T) c.*220+5676T>A (n.*220+5676T>A) c.292T>A (p.Ser98Thr) c.319T>A (p.Ser107Thr) c.1174T>A (p.Ser392Thr) c.988T>A (p.Ser330Thr) c.907T>A (p.Ser303Thr) c.613T>A (p.Ser205Thr) c.994T>A (p.Ser332Thr) | |
| 2 | g.48688549G>A | CA346748463 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1248C>T (p.Ala416=) c.948-410C>T (n.948-410C>T) c.3441+16869G>A (n.3441+16869G>A) c.982C>T (p.Leu328Phe) c.1167C>T (p.Ala389=) c.276+16869G>A (n.276+16869G>A) c.*220+5675C>T (n.*220+5675C>T) c.291C>T (p.Ala97=) c.318C>T (p.Ala106=) c.1173C>T (p.Ala391=) c.987C>T (p.Ala329=) c.906C>T (p.Ala302=) c.612C>T (p.Ala204=) c.993C>T (p.Ala331=) | |
| 2 | g.48688549G>C | CA346748465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1248C>G (p.Ala416=) c.948-410C>G (n.948-410C>G) c.3441+16869G>C (n.3441+16869G>C) c.982C>G (p.Leu328Val) c.1167C>G (p.Ala389=) c.276+16869G>C (n.276+16869G>C) c.*220+5675C>G (n.*220+5675C>G) c.291C>G (p.Ala97=) c.318C>G (p.Ala106=) c.1173C>G (p.Ala391=) c.987C>G (p.Ala329=) c.906C>G (p.Ala302=) c.612C>G (p.Ala204=) c.993C>G (p.Ala331=) | |
| 2 | g.48688549G= | CA1248601183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1248C= (p.Ala416=) c.948-410C= (n.948-410C=) c.3441+16869G= (n.3441+16869G=) c.982C= (p.Leu328=) c.1167C= (p.Ala389=) c.276+16869G= (n.276+16869G=) c.*220+5675C= (n.*220+5675C=) c.291C= (p.Ala97=) c.318C= (p.Ala106=) c.1173C= (p.Ala391=) c.987C= (p.Ala329=) c.906C= (p.Ala302=) c.612C= (p.Ala204=) c.993C= (p.Ala331=) | |
| 2 | g.48688549G>T | CA346748467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1248C>A (p.Ala416=) c.948-410C>A (n.948-410C>A) c.3441+16869G>T (n.3441+16869G>T) c.982C>A (p.Leu328Ile) c.1167C>A (p.Ala389=) c.276+16869G>T (n.276+16869G>T) c.*220+5675C>A (n.*220+5675C>A) c.291C>A (p.Ala97=) c.318C>A (p.Ala106=) c.1173C>A (p.Ala391=) c.987C>A (p.Ala329=) c.906C>A (p.Ala302=) c.612C>A (p.Ala204=) c.993C>A (p.Ala331=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.48688550G>A | CA346748469 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1247C>T (p.Ala416Val) c.948-411C>T (n.948-411C>T) c.3441+16870G>A (n.3441+16870G>A) c.981C>T (p.Ser327=) c.1166C>T (p.Ala389Val) c.276+16870G>A (n.276+16870G>A) c.*220+5674C>T (n.*220+5674C>T) c.290C>T (p.Ala97Val) c.317C>T (p.Ala106Val) c.1172C>T (p.Ala391Val) c.986C>T (p.Ala329Val) c.905C>T (p.Ala302Val) c.611C>T (p.Ala204Val) c.992C>T (p.Ala331Val) | |
| 2 | g.48688550G>C | CA346748470 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1247C>G (p.Ala416Gly) c.948-411C>G (n.948-411C>G) c.3441+16870G>C (n.3441+16870G>C) c.981C>G (p.Ser327Arg) c.1166C>G (p.Ala389Gly) c.276+16870G>C (n.276+16870G>C) c.*220+5674C>G (n.*220+5674C>G) c.290C>G (p.Ala97Gly) c.317C>G (p.Ala106Gly) c.1172C>G (p.Ala391Gly) c.986C>G (p.Ala329Gly) c.905C>G (p.Ala302Gly) c.611C>G (p.Ala204Gly) c.992C>G (p.Ala331Gly) | |
| 2 | g.48688550G>T | CA346748471 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1247C>A (p.Ala416Asp) c.948-411C>A (n.948-411C>A) c.3441+16870G>T (n.3441+16870G>T) c.981C>A (p.Ser327Arg) c.1166C>A (p.Ala389Asp) c.276+16870G>T (n.276+16870G>T) c.*220+5674C>A (n.*220+5674C>A) c.290C>A (p.Ala97Asp) c.317C>A (p.Ala106Asp) c.1172C>A (p.Ala391Asp) c.986C>A (p.Ala329Asp) c.905C>A (p.Ala302Asp) c.611C>A (p.Ala204Asp) c.992C>A (p.Ala331Asp) | |
| 2 | g.48688551C>A | CA346748473 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1246G>T (p.Ala416Ser) c.948-412G>T (n.948-412G>T) c.3441+16871C>A (n.3441+16871C>A) c.980G>T (p.Ser327Ile) c.1165G>T (p.Ala389Ser) c.276+16871C>A (n.276+16871C>A) c.*220+5673G>T (n.*220+5673G>T) c.289G>T (p.Ala97Ser) c.316G>T (p.Ala106Ser) c.1171G>T (p.Ala391Ser) c.985G>T (p.Ala329Ser) c.904G>T (p.Ala302Ser) c.610G>T (p.Ala204Ser) c.991G>T (p.Ala331Ser) | |
| 2 | g.48688551C>G | CA346748475 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1246G>C (p.Ala416Pro) c.948-412G>C (n.948-412G>C) c.3441+16871C>G (n.3441+16871C>G) c.980G>C (p.Ser327Thr) c.1165G>C (p.Ala389Pro) c.276+16871C>G (n.276+16871C>G) c.*220+5673G>C (n.*220+5673G>C) c.289G>C (p.Ala97Pro) c.316G>C (p.Ala106Pro) c.1171G>C (p.Ala391Pro) c.985G>C (p.Ala329Pro) c.904G>C (p.Ala302Pro) c.610G>C (p.Ala204Pro) c.991G>C (p.Ala331Pro) | gnomAD v4 |
| 2 | g.48688551C>T | CA346748477 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1246G>A (p.Ala416Thr) c.948-412G>A (n.948-412G>A) c.3441+16871C>T (n.3441+16871C>T) c.980G>A (p.Ser327Asn) c.1165G>A (p.Ala389Thr) c.276+16871C>T (n.276+16871C>T) c.*220+5673G>A (n.*220+5673G>A) c.289G>A (p.Ala97Thr) c.316G>A (p.Ala106Thr) c.1171G>A (p.Ala391Thr) c.985G>A (p.Ala329Thr) c.904G>A (p.Ala302Thr) c.610G>A (p.Ala204Thr) c.991G>A (p.Ala331Thr) | |
| 2 | g.48688552T>A | CA346748483 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1245A>T (p.Ile415=) c.948-413A>T (n.948-413A>T) c.3441+16872T>A (n.3441+16872T>A) c.979A>T (p.Ser327Cys) c.1164A>T (p.Ile388=) c.276+16872T>A (n.276+16872T>A) c.*220+5672A>T (n.*220+5672A>T) c.288A>T (p.Ile96=) c.315A>T (p.Ile105=) c.1170A>T (p.Ile390=) c.984A>T (p.Ile328=) c.903A>T (p.Ile301=) c.609A>T (p.Ile203=) c.990A>T (p.Ile330=) | |
| 2 | g.48688552T>C | CA346748481 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1245A>G (p.Ile415Met) c.948-413A>G (n.948-413A>G) c.3441+16872T>C (n.3441+16872T>C) c.979A>G (p.Ser327Gly) c.1164A>G (p.Ile388Met) c.276+16872T>C (n.276+16872T>C) c.*220+5672A>G (n.*220+5672A>G) c.288A>G (p.Ile96Met) c.315A>G (p.Ile105Met) c.1170A>G (p.Ile390Met) c.984A>G (p.Ile328Met) c.903A>G (p.Ile301Met) c.609A>G (p.Ile203Met) c.990A>G (p.Ile330Met) | |
| 2 | g.48688552T>G | CA346748479 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1245A>C (p.Ile415=) c.948-413A>C (n.948-413A>C) c.3441+16872T>G (n.3441+16872T>G) c.979A>C (p.Ser327Arg) c.1164A>C (p.Ile388=) c.276+16872T>G (n.276+16872T>G) c.*220+5672A>C (n.*220+5672A>C) c.288A>C (p.Ile96=) c.315A>C (p.Ile105=) c.1170A>C (p.Ile390=) c.984A>C (p.Ile328=) c.903A>C (p.Ile301=) c.609A>C (p.Ile203=) c.990A>C (p.Ile330=) | |
| 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 |