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 |
|---|---|---|---|---|---|
| 22 | g.50625295C>A | CA412168062 | ARSA | c.1380G>T (p.Gln460His) c.1122G>T (p.Gln374His) c.180+68G>T c.*113G>T (n.*113G>T) c.1494G>T (p.Gln498His) | |
| 22 | g.50625295C>G | CA412168065 | ARSA | c.1380G>C (p.Gln460His) c.1122G>C (p.Gln374His) c.180+68G>C c.*113G>C (n.*113G>C) c.1494G>C (p.Gln498His) | |
| 22 | g.50625295C>T | CA515391225 | ARSA | c.1380G>A (p.Gln460=) c.1122G>A (p.Gln374=) c.180+68G>A c.*113G>A (n.*113G>A) c.1494G>A (p.Gln498=) | |
| 22 | g.50625296T>A | CA412168069 | ARSA | c.1379A>T (p.Gln460Leu) c.1121A>T (p.Gln374Leu) c.180+67A>T c.*112A>T (n.*112A>T) c.1493A>T (p.Gln498Leu) | |
| 22 | g.50625296T>C | CA412168071 | ARSA | c.1379A>G (p.Gln460Arg) c.1121A>G (p.Gln374Arg) c.180+67A>G c.*112A>G (n.*112A>G) c.1493A>G (p.Gln498Arg) | |
| 22 | g.50625296T>G | CA412168078 | ARSA | c.1379A>C (p.Gln460Pro) c.1121A>C (p.Gln374Pro) c.180+67A>C c.*112A>C (n.*112A>C) c.1493A>C (p.Gln498Pro) | |
| 22 | g.50625297G>A | CA412168081 | ARSA | c.1378C>T (p.Gln460Ter) c.1120C>T (p.Gln374Ter) c.180+66C>T c.*111C>T (n.*111C>T) c.1492C>T (p.Gln498Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625297G>C | CA325531208 | ARSA | c.1378C>G (p.Gln460Glu) c.1120C>G (p.Gln374Glu) c.180+66C>G c.*111C>G (n.*111C>G) c.1492C>G (p.Gln498Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625297G= | CA2410958405 | ARSA | c.1378C= (p.Gln460=) c.1120C= (p.Gln374=) c.180+66C= c.*111C= (n.*111C=) c.1492C= (p.Gln498=) | |
| 22 | g.50625297G>T | CA412168087 | ARSA | c.1378C>A (p.Gln460Lys) c.1120C>A (p.Gln374Lys) c.180+66C>A c.*111C>A (n.*111C>A) c.1492C>A (p.Gln498Lys) | gnomAD v4 |
| 22 | g.50625298T>A | CA412168092 | ARSA | c.1377A>T (p.Lys459Asn) c.1119A>T (p.Lys373Asn) c.180+65A>T c.*110A>T (n.*110A>T) c.1491A>T (p.Lys497Asn) | |
| 22 | g.50625298T>C | CA515391234 | ARSA | c.1377A>G (p.Lys459=) c.1119A>G (p.Lys373=) c.180+65A>G c.*110A>G (n.*110A>G) c.1491A>G (p.Lys497=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625298T>G | CA412168096 | ARSA | c.1377A>C (p.Lys459Asn) c.1119A>C (p.Lys373Asn) c.180+65A>C c.*110A>C (n.*110A>C) c.1491A>C (p.Lys497Asn) | |
| 22 | g.50625298T= | CA2410958406 | ARSA | c.1377A= (p.Lys459=) c.1119A= (p.Lys373=) c.180+65A= c.*110A= (n.*110A=) c.1491A= (p.Lys497=) | |
| 22 | g.50625299T>A | CA412168100 | ARSA | c.1376A>T (p.Lys459Ile) c.1118A>T (p.Lys373Ile) c.180+64A>T c.*109A>T (n.*109A>T) c.1490A>T (p.Lys497Ile) | |
| 22 | g.50625299T>C | CA10324737 | ARSA | c.1376A>G (p.Lys459Arg) c.1118A>G (p.Lys373Arg) c.180+64A>G c.*109A>G (n.*109A>G) c.1490A>G (p.Lys497Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625299T>G | CA412168103 | ARSA | c.1376A>C (p.Lys459Thr) c.1118A>C (p.Lys373Thr) c.180+64A>C c.*109A>C (n.*109A>C) c.1490A>C (p.Lys497Thr) | |
| 22 | g.50625299T= | CA2410958407 | ARSA | c.1376A= (p.Lys459=) c.1118A= (p.Lys373=) c.180+64A= c.*109A= (n.*109A=) c.1490A= (p.Lys497=) | |
| 22 | g.50625300T>A | CA412168108 | ARSA | c.1375A>T (p.Lys459Ter) c.1117A>T (p.Lys373Ter) c.180+63A>T c.*108A>T (n.*108A>T) c.1489A>T (p.Lys497Ter) | |
| 22 | g.50625300T>C | CA412168111 | ARSA | c.1375A>G (p.Lys459Glu) c.1117A>G (p.Lys373Glu) c.180+63A>G c.*108A>G (n.*108A>G) c.1489A>G (p.Lys497Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625300T>G | CA412168115 | ARSA | c.1375A>C (p.Lys459Gln) c.1117A>C (p.Lys373Gln) c.180+63A>C c.*108A>C (n.*108A>C) c.1489A>C (p.Lys497Gln) | |
| 22 | g.50625300T= | CA2410958408 | ARSA | c.1375A= (p.Lys459=) c.1117A= (p.Lys373=) c.180+63A= c.*108A= (n.*108A=) c.1489A= (p.Lys497=) | |
| 22 | g.50625301C>A | CA515391235 | ARSA | c.1374G>T (p.Leu458=) c.1116G>T (p.Leu372=) c.180+62G>T c.*107G>T (n.*107G>T) c.1488G>T (p.Leu496=) | |
| 22 | g.50625301C= | CA2410958409 | ARSA | c.1374G= (p.Leu458=) c.1116G= (p.Leu372=) c.180+62G= c.*107G= (n.*107G=) c.1488G= (p.Leu496=) | |
| 22 | g.50625301C>G | CA515391236 | ARSA | c.1374G>C (p.Leu458=) c.1116G>C (p.Leu372=) c.180+62G>C c.*107G>C (n.*107G>C) c.1488G>C (p.Leu496=) | ClinVar |
| 22 | g.50625301C>T | CA325531211 | ARSA | c.1374G>A (p.Leu458=) c.1116G>A (p.Leu372=) c.180+62G>A c.*107G>A (n.*107G>A) c.1488G>A (p.Leu496=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625302A>C | CA412168122 | ARSA | c.1373T>G (p.Leu458Arg) c.1115T>G (p.Leu372Arg) c.180+61T>G c.*106T>G (n.*106T>G) c.1487T>G (p.Leu496Arg) | |
| 22 | g.50625302A>G | CA412168127 | ARSA | c.1373T>C (p.Leu458Pro) c.1115T>C (p.Leu372Pro) c.180+61T>C c.*106T>C (n.*106T>C) c.1487T>C (p.Leu496Pro) | |
| 22 | g.50625302A>T | CA412168130 | ARSA | c.1373T>A (p.Leu458Gln) c.1115T>A (p.Leu372Gln) c.180+61T>A c.*106T>A (n.*106T>A) c.1487T>A (p.Leu496Gln) | |
| 22 | g.50625303G>A | CA515391239 | ARSA | c.1372C>T (p.Leu458=) c.1114C>T (p.Leu372=) c.180+60C>T c.*105C>T (n.*105C>T) c.1486C>T (p.Leu496=) | dbSNP |
| 22 | g.50625303G>C | CA412168134 | ARSA | c.1372C>G (p.Leu458Val) c.1114C>G (p.Leu372Val) c.180+60C>G c.*105C>G (n.*105C>G) c.1486C>G (p.Leu496Val) | |
| 22 | g.50625303G= | CA2410958410 | ARSA | c.1372C= (p.Leu458=) c.1114C= (p.Leu372=) c.180+60C= c.*105C= (n.*105C=) c.1486C= (p.Leu496=) | |
| 22 | g.50625303G>T | CA412168136 | ARSA | c.1372C>A (p.Leu458Met) c.1114C>A (p.Leu372Met) c.180+60C>A c.*105C>A (n.*105C>A) c.1486C>A (p.Leu496Met) | |
| 22 | g.50625304G>A | CA515391246 | ARSA | c.1371C>T (p.Ala457=) c.1113C>T (p.Ala371=) c.180+59C>T c.*104C>T (n.*104C>T) c.1485C>T (p.Ala495=) | ClinVar gnomAD v4 |
| 22 | g.50625304G>C | CA515391245 | ARSA | c.1371C>G (p.Ala457=) c.1113C>G (p.Ala371=) c.180+59C>G c.*104C>G (n.*104C>G) c.1485C>G (p.Ala495=) | |
| 22 | g.50625304G>T | CA515391243 | ARSA | c.1371C>A (p.Ala457=) c.1113C>A (p.Ala371=) c.180+59C>A c.*104C>A (n.*104C>A) c.1485C>A (p.Ala495=) | |
| 22 | g.50625305G>A | CA412168142 | ARSA | c.1370C>T (p.Ala457Val) c.1112C>T (p.Ala371Val) c.180+58C>T c.*103C>T (n.*103C>T) c.1484C>T (p.Ala495Val) | ClinVar |
| 22 | g.50625305G>C | CA412168144 | ARSA | c.1370C>G (p.Ala457Gly) c.1112C>G (p.Ala371Gly) c.180+58C>G c.*103C>G (n.*103C>G) c.1484C>G (p.Ala495Gly) | |
| 22 | g.50625305G>T | CA412168148 | ARSA | c.1370C>A (p.Ala457Asp) c.1112C>A (p.Ala371Asp) c.180+58C>A c.*103C>A (n.*103C>A) c.1484C>A (p.Ala495Asp) | |
| 22 | g.50625306C>A | CA412168158 | ARSA | c.1369G>T (p.Ala457Ser) c.1111G>T (p.Ala371Ser) c.180+57G>T c.*102G>T (n.*102G>T) c.1483G>T (p.Ala495Ser) | dbSNP |
| 22 | g.50625306C= | CA2410958411 | ARSA | c.1369G= (p.Ala457=) c.1111G= (p.Ala371=) c.180+57G= c.*102G= (n.*102G=) c.1483G= (p.Ala495=) | |
| 22 | g.50625306C>G | CA412168152 | ARSA | c.1369G>C (p.Ala457Pro) c.1111G>C (p.Ala371Pro) c.180+57G>C c.*102G>C (n.*102G>C) c.1483G>C (p.Ala495Pro) | |
| 22 | g.50625306C>T | CA10324738 | ARSA | c.1369G>A (p.Ala457Thr) c.1111G>A (p.Ala371Thr) c.180+57G>A c.*102G>A (n.*102G>A) c.1483G>A (p.Ala495Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625307T>A | CA412168162 | ARSA | c.1368A>T (p.Gln456His) c.1110A>T (p.Gln370His) c.180+56A>T c.*101A>T (n.*101A>T) c.1482A>T (p.Gln494His) | |
| 22 | g.50625307T>C | CA515391253 | ARSA | c.1368A>G (p.Gln456=) c.1110A>G (p.Gln370=) c.180+56A>G c.*101A>G (n.*101A>G) c.1482A>G (p.Gln494=) | |
| 22 | g.50625307T>G | CA412168165 | ARSA | c.1368A>C (p.Gln456His) c.1110A>C (p.Gln370His) c.180+56A>C c.*101A>C (n.*101A>C) c.1482A>C (p.Gln494His) | |
| 22 | g.50625308T>A | CA412168168 | ARSA | c.1367A>T (p.Gln456Leu) c.1109A>T (p.Gln370Leu) c.180+55A>T c.*100A>T (n.*100A>T) c.1481A>T (p.Gln494Leu) | |
| 22 | g.50625308T>C | CA412168171 | ARSA | c.1367A>G (p.Gln456Arg) c.1109A>G (p.Gln370Arg) c.180+55A>G c.*100A>G (n.*100A>G) c.1481A>G (p.Gln494Arg) | gnomAD v4 |
| 22 | g.50625308T>G | CA412168174 | ARSA | c.1367A>C (p.Gln456Pro) c.1109A>C (p.Gln370Pro) c.180+55A>C c.*100A>C (n.*100A>C) c.1481A>C (p.Gln494Pro) | |
| 22 | g.50625309G>A | CA412168178 | ARSA | c.1366C>T (p.Gln456Ter) c.1108C>T (p.Gln370Ter) c.180+54C>T c.*99C>T (n.*99C>T) c.1480C>T (p.Gln494Ter) | ClinVar dbSNP |