| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45772602G>A | CA117101 | SLC6A20 | c.596C>T (p.Thr199Met) c.583-1144C>T (n.583-1144C>T) c.455C>T (p.Thr152Met) c.299C>T (p.Thr100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772602G>C | CA352454282 | SLC6A20 | c.596C>G (p.Thr199Arg) c.583-1144C>G (n.583-1144C>G) c.455C>G (p.Thr152Arg) c.299C>G (p.Thr100Arg) | |
| 3 | g.45772602G= | CA1361819939 | SLC6A20 | c.596C= (p.Thr199=) c.583-1144C= (n.583-1144C=) c.455C= (p.Thr152=) c.299C= (p.Thr100=) | |
| 3 | g.45772602G>T | CA352454285 | SLC6A20 | c.596C>A (p.Thr199Lys) c.583-1144C>A (n.583-1144C>A) c.455C>A (p.Thr152Lys) c.299C>A (p.Thr100Lys) | |
| 3 | g.45772603T>A | CA352454295 | SLC6A20 | c.595A>T (p.Thr199Ser) c.583-1145A>T (n.583-1145A>T) c.454A>T (p.Thr152Ser) c.298A>T (p.Thr100Ser) | |
| 3 | g.45772603T>C | CA352454296 | SLC6A20 | c.595A>G (p.Thr199Ala) c.583-1145A>G (n.583-1145A>G) c.454A>G (p.Thr152Ala) c.298A>G (p.Thr100Ala) | |
| 3 | g.45772603T>G | CA352454299 | SLC6A20 | c.595A>C (p.Thr199Pro) c.583-1145A>C (n.583-1145A>C) c.454A>C (p.Thr152Pro) c.298A>C (p.Thr100Pro) | |
| 3 | g.45772604G>A | CA2351560 | SLC6A20 | c.594C>T (p.Phe198=) c.583-1146C>T (n.583-1146C>T) c.453C>T (p.Phe151=) c.297C>T (p.Phe99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772604G>C | CA352454303 | SLC6A20 | c.594C>G (p.Phe198Leu) c.583-1146C>G (n.583-1146C>G) c.453C>G (p.Phe151Leu) c.297C>G (p.Phe99Leu) | |
| 3 | g.45772604G= | CA1361819948 | SLC6A20 | c.594C= (p.Phe198=) c.583-1146C= (n.583-1146C=) c.453C= (p.Phe151=) c.297C= (p.Phe99=) | |
| 3 | g.45772604G>T | CA352454310 | SLC6A20 | c.594C>A (p.Phe198Leu) c.583-1146C>A (n.583-1146C>A) c.453C>A (p.Phe151Leu) c.297C>A (p.Phe99Leu) | |
| 3 | g.45772605A>C | CA352454311 | SLC6A20 | c.593T>G (p.Phe198Cys) c.583-1147T>G (n.583-1147T>G) c.452T>G (p.Phe151Cys) c.296T>G (p.Phe99Cys) | |
| 3 | g.45772605A>G | CA352454315 | SLC6A20 | c.593T>C (p.Phe198Ser) c.583-1147T>C (n.583-1147T>C) c.452T>C (p.Phe151Ser) c.296T>C (p.Phe99Ser) | |
| 3 | g.45772605A>T | CA352454318 | SLC6A20 | c.593T>A (p.Phe198Tyr) c.583-1147T>A (n.583-1147T>A) c.452T>A (p.Phe151Tyr) c.296T>A (p.Phe99Tyr) | |
| 3 | g.45772606A>C | CA352454319 | SLC6A20 | c.592T>G (p.Phe198Val) c.583-1148T>G (n.583-1148T>G) c.451T>G (p.Phe151Val) c.295T>G (p.Phe99Val) | |
| 3 | g.45772606A>G | CA352454320 | SLC6A20 | c.592T>C (p.Phe198Leu) c.583-1148T>C (n.583-1148T>C) c.451T>C (p.Phe151Leu) c.295T>C (p.Phe99Leu) | gnomAD v4 |
| 3 | g.45772606A>T | CA352454321 | SLC6A20 | c.592T>A (p.Phe198Ile) c.583-1148T>A (n.583-1148T>A) c.451T>A (p.Phe151Ile) c.295T>A (p.Phe99Ile) | |
| 3 | g.45772607A>C | CA352454323 | SLC6A20 | c.591T>G (p.Tyr197Ter) c.583-1149T>G (n.583-1149T>G) c.450T>G (p.Tyr150Ter) c.294T>G (p.Tyr98Ter) | |
| 3 | g.45772607A>G | CA433447683 | SLC6A20 | c.591T>C (p.Tyr197=) c.583-1149T>C (n.583-1149T>C) c.450T>C (p.Tyr150=) c.294T>C (p.Tyr98=) | |
| 3 | g.45772607A>T | CA352454322 | SLC6A20 | c.591T>A (p.Tyr197Ter) c.583-1149T>A (n.583-1149T>A) c.450T>A (p.Tyr150Ter) c.294T>A (p.Tyr98Ter) | |
| 3 | g.45772608T>A | CA352454324 | SLC6A20 | c.590A>T (p.Tyr197Phe) c.583-1150A>T (n.583-1150A>T) c.449A>T (p.Tyr150Phe) c.293A>T (p.Tyr98Phe) | |
| 3 | g.45772608T>C | CA352454328 | SLC6A20 | c.590A>G (p.Tyr197Cys) c.583-1150A>G (n.583-1150A>G) c.449A>G (p.Tyr150Cys) c.293A>G (p.Tyr98Cys) | |
| 3 | g.45772608T>G | CA352454326 | SLC6A20 | c.590A>C (p.Tyr197Ser) c.583-1150A>C (n.583-1150A>C) c.449A>C (p.Tyr150Ser) c.293A>C (p.Tyr98Ser) | |
| 3 | g.45772609A>C | CA352454329 | SLC6A20 | c.589T>G (p.Tyr197Asp) c.583-1151T>G (n.583-1151T>G) c.448T>G (p.Tyr150Asp) c.292T>G (p.Tyr98Asp) | |
| 3 | g.45772609A>G | CA352454330 | SLC6A20 | c.589T>C (p.Tyr197His) c.583-1151T>C (n.583-1151T>C) c.448T>C (p.Tyr150His) c.292T>C (p.Tyr98His) | |
| 3 | g.45772609A>T | CA352454333 | SLC6A20 | c.589T>A (p.Tyr197Asn) c.583-1151T>A (n.583-1151T>A) c.448T>A (p.Tyr150Asn) c.292T>A (p.Tyr98Asn) | |
| 3 | g.45772609dup | CA2665411760 | SLC6A20 | c.589dup (p.Tyr197LeufsTer?) c.583-1151dup (n.583-1151dup) c.448dup (p.Tyr150LeufsTer?) c.292dup (p.Tyr98LeufsTer?) | gnomAD v4 |
| 3 | g.45772610C>A | CA433447684 | SLC6A20 | c.588G>T (p.Val196=) c.583-1152G>T (n.583-1152G>T) c.447G>T (p.Val149=) c.291G>T (p.Val97=) | |
| 3 | g.45772610C= | CA1361819953 | SLC6A20 | c.588G= (p.Val196=) c.583-1152G= (n.583-1152G=) c.447G= (p.Val149=) c.291G= (p.Val97=) | |
| 3 | g.45772610C>G | CA2351561 | SLC6A20 | c.588G>C (p.Val196=) c.583-1152G>C (n.583-1152G>C) c.447G>C (p.Val149=) c.291G>C (p.Val97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772610C>T | CA433447685 | SLC6A20 | c.588G>A (p.Val196=) c.583-1152G>A (n.583-1152G>A) c.447G>A (p.Val149=) c.291G>A (p.Val97=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772611A= | CA1361819956 | SLC6A20 | c.587T= (p.Val196=) c.583-1153T= (n.583-1153T=) c.446T= (p.Val149=) c.290T= (p.Val97=) | |
| 3 | g.45772611A>C | CA73646640 | SLC6A20 | c.587T>G (p.Val196Gly) c.583-1153T>G (n.583-1153T>G) c.446T>G (p.Val149Gly) c.290T>G (p.Val97Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772611A>G | CA352454337 | SLC6A20 | c.587T>C (p.Val196Ala) c.583-1153T>C (n.583-1153T>C) c.446T>C (p.Val149Ala) c.290T>C (p.Val97Ala) | |
| 3 | g.45772611A>T | CA352454339 | SLC6A20 | c.587T>A (p.Val196Glu) c.583-1153T>A (n.583-1153T>A) c.446T>A (p.Val149Glu) c.290T>A (p.Val97Glu) | dbSNP |
| 3 | g.45772612C>A | CA352454340 | SLC6A20 | c.586G>T (p.Val196Leu) c.583-1154G>T (n.583-1154G>T) c.445G>T (p.Val149Leu) c.289G>T (p.Val97Leu) | |
| 3 | g.45772612C>G | CA352454345 | SLC6A20 | c.586G>C (p.Val196Leu) c.583-1154G>C (n.583-1154G>C) c.445G>C (p.Val149Leu) c.289G>C (p.Val97Leu) | |
| 3 | g.45772612C>T | CA352454343 | SLC6A20 | c.586G>A (p.Val196Met) c.583-1154G>A (n.583-1154G>A) c.445G>A (p.Val149Met) c.289G>A (p.Val97Met) | |
| 3 | g.45772613C>A | CA433447686 | SLC6A20 | c.585G>T (p.Val195=) c.583-1155G>T (n.583-1155G>T) c.444G>T (p.Val148=) c.288G>T (p.Val96=) | |
| 3 | g.45772613C= | CA1361819959 | SLC6A20 | c.585G= (p.Val195=) c.583-1155G= (n.583-1155G=) c.444G= (p.Val148=) c.288G= (p.Val96=) | |
| 3 | g.45772613C>G | CA433447687 | SLC6A20 | c.585G>C (p.Val195=) c.583-1155G>C (n.583-1155G>C) c.444G>C (p.Val148=) c.288G>C (p.Val96=) | |
| 3 | g.45772613C>T | CA2351562 | SLC6A20 | c.585G>A (p.Val195=) c.583-1155G>A (n.583-1155G>A) c.444G>A (p.Val148=) c.288G>A (p.Val96=) | dbSNP ExAC gnomAD v2 |
| 3 | g.45772614A= | CA1361819964 | SLC6A20 | c.584T= (p.Val195=) c.583-1156T= (n.583-1156T=) c.443T= (p.Val148=) c.287T= (p.Val96=) | |
| 3 | g.45772614A>C | CA352454352 | SLC6A20 | c.584T>G (p.Val195Gly) c.583-1156T>G (n.583-1156T>G) c.443T>G (p.Val148Gly) c.287T>G (p.Val96Gly) | gnomAD v4 |
| 3 | g.45772614A>G | CA352454354 | SLC6A20 | c.584T>C (p.Val195Ala) c.583-1156T>C (n.583-1156T>C) c.443T>C (p.Val148Ala) c.287T>C (p.Val96Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.45772614A>T | CA352454355 | SLC6A20 | c.584T>A (p.Val195Glu) c.583-1156T>A (n.583-1156T>A) c.443T>A (p.Val148Glu) c.287T>A (p.Val96Glu) | |
| 3 | g.45772615C>A | CA352454358 | SLC6A20 | c.583G>T (p.Val195Leu) c.583-1157G>T (n.583-1157G>T) c.442G>T (p.Val148Leu) c.286G>T (p.Val96Leu) | |
| 3 | g.45772615C>G | CA352454365 | SLC6A20 | c.583G>C (p.Val195Leu) c.583-1157G>C (n.583-1157G>C) c.442G>C (p.Val148Leu) c.286G>C (p.Val96Leu) | |
| 3 | g.45772615C>T | CA352454361 | SLC6A20 | c.583G>A (p.Val195Met) c.583-1157G>A (n.583-1157G>A) c.442G>A (p.Val148Met) c.286G>A (p.Val96Met) | |
| 3 | g.45772616C>A | CA2351563 | SLC6A20 | c.583-1G>T (n.583-1G>T) c.583-1158G>T (n.583-1158G>T) c.442-1G>T (n.442-1G>T) c.286-1G>T (n.286-1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |