| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625286_50625287delinsCA | CA2410958403 | ARSA | c.1388_1389delinsTG (p.Leu463=) c.1130_1131delinsTG (p.Leu377=) c.180+76_180+77delinsTG c.*121_*122delinsTG (n.*121_*122delinsTG) c.1502_1503delinsTG (p.Leu501=) | |
| 22 | g.50625287del | CA16042033 | ARSA | c.1388del (p.Leu463ArgfsTer6) c.1130del (p.Leu377ArgfsTer6) c.180+76del c.*121del (n.*121del) c.1502del (p.Leu501ArgfsTer6) | ClinVar dbSNP |
| 22 | g.50625287A>C | CA412167971 | ARSA | c.1388T>G (p.Leu463Arg) c.1130T>G (p.Leu377Arg) c.180+76T>G c.*121T>G (n.*121T>G) c.1502T>G (p.Leu501Arg) | |
| 22 | g.50625287A>G | CA412167975 | ARSA | c.1388T>C (p.Leu463Pro) c.1130T>C (p.Leu377Pro) c.180+76T>C c.*121T>C (n.*121T>C) c.1502T>C (p.Leu501Pro) | |
| 22 | g.50625287A>T | CA412167980 | ARSA | c.1388T>A (p.Leu463Gln) c.1130T>A (p.Leu377Gln) c.180+76T>A c.*121T>A (n.*121T>A) c.1502T>A (p.Leu501Gln) | |
| 22 | g.50625288G>A | CA515391203 | ARSA | c.1387C>T (p.Leu463=) c.1129C>T (p.Leu377=) c.180+75C>T c.*120C>T (n.*120C>T) c.1501C>T (p.Leu501=) | |
| 22 | g.50625288G>C | CA412167985 | ARSA | c.1387C>G (p.Leu463Val) c.1129C>G (p.Leu377Val) c.180+75C>G c.*120C>G (n.*120C>G) c.1501C>G (p.Leu501Val) | |
| 22 | g.50625288G>T | CA412167988 | ARSA | c.1387C>A (p.Leu463Met) c.1129C>A (p.Leu377Met) c.180+75C>A c.*120C>A (n.*120C>A) c.1501C>A (p.Leu501Met) | |
| 22 | g.50625289C>A | CA412167995 | ARSA | c.1386G>T (p.Gln462His) c.1128G>T (p.Gln376His) c.180+74G>T c.*119G>T (n.*119G>T) c.1500G>T (p.Gln500His) | |
| 22 | g.50625289C>G | CA412167993 | ARSA | c.1386G>C (p.Gln462His) c.1128G>C (p.Gln376His) c.180+74G>C c.*119G>C (n.*119G>C) c.1500G>C (p.Gln500His) | gnomAD v4 |
| 22 | g.50625289C>T | CA515391206 | ARSA | c.1386G>A (p.Gln462=) c.1128G>A (p.Gln376=) c.180+74G>A c.*119G>A (n.*119G>A) c.1500G>A (p.Gln500=) | |
| 22 | g.50625290T>A | CA412168000 | ARSA | c.1385A>T (p.Gln462Leu) c.1127A>T (p.Gln376Leu) c.180+73A>T c.*118A>T (n.*118A>T) c.1499A>T (p.Gln500Leu) | |
| 22 | g.50625290T>C | CA412168003 | ARSA | c.1385A>G (p.Gln462Arg) c.1127A>G (p.Gln376Arg) c.180+73A>G c.*118A>G (n.*118A>G) c.1499A>G (p.Gln500Arg) | ClinVar dbSNP |
| 22 | g.50625290T>G | CA412168007 | ARSA | c.1385A>C (p.Gln462Pro) c.1127A>C (p.Gln376Pro) c.180+73A>C c.*118A>C (n.*118A>C) c.1499A>C (p.Gln500Pro) | |
| 22 | g.50625291G>A | CA10324736 | ARSA | c.1384C>T (p.Gln462Ter) c.1126C>T (p.Gln376Ter) c.180+72C>T c.*117C>T (n.*117C>T) c.1498C>T (p.Gln500Ter) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625291G>C | CA412168027 | ARSA | c.1384C>G (p.Gln462Glu) c.1126C>G (p.Gln376Glu) c.180+72C>G c.*117C>G (n.*117C>G) c.1498C>G (p.Gln500Glu) | |
| 22 | g.50625291G= | CA2410958404 | ARSA | c.1384C= (p.Gln462=) c.1126C= (p.Gln376=) c.180+72C= c.*117C= (n.*117C=) c.1498C= (p.Gln500=) | |
| 22 | g.50625291G>T | CA412168032 | ARSA | c.1384C>A (p.Gln462Lys) c.1126C>A (p.Gln376Lys) c.180+72C>A c.*117C>A (n.*117C>A) c.1498C>A (p.Gln500Lys) | |
| 22 | g.50625292A>C | CA515391217 | ARSA | c.1383T>G (p.Leu461=) c.1125T>G (p.Leu375=) c.180+71T>G c.*116T>G (n.*116T>G) c.1497T>G (p.Leu499=) | |
| 22 | g.50625292A>G | CA515391218 | ARSA | c.1383T>C (p.Leu461=) c.1125T>C (p.Leu375=) c.180+71T>C c.*116T>C (n.*116T>C) c.1497T>C (p.Leu499=) | |
| 22 | g.50625292A>T | CA515391219 | ARSA | c.1383T>A (p.Leu461=) c.1125T>A (p.Leu375=) c.180+71T>A c.*116T>A (n.*116T>A) c.1497T>A (p.Leu499=) | |
| 22 | g.50625293A>C | CA412168037 | ARSA | c.1382T>G (p.Leu461Arg) c.1124T>G (p.Leu375Arg) c.180+70T>G c.*115T>G (n.*115T>G) c.1496T>G (p.Leu499Arg) | |
| 22 | g.50625293A>G | CA412168046 | ARSA | c.1382T>C (p.Leu461Pro) c.1124T>C (p.Leu375Pro) c.180+70T>C c.*115T>C (n.*115T>C) c.1496T>C (p.Leu499Pro) | |
| 22 | g.50625293A>T | CA412168040 | ARSA | c.1382T>A (p.Leu461His) c.1124T>A (p.Leu375His) c.180+70T>A c.*115T>A (n.*115T>A) c.1496T>A (p.Leu499His) | |
| 22 | g.50625294G>A | CA412168050 | ARSA | c.1381C>T (p.Leu461Phe) c.1123C>T (p.Leu375Phe) c.180+69C>T c.*114C>T (n.*114C>T) c.1495C>T (p.Leu499Phe) | gnomAD v4 |
| 22 | g.50625294G>C | CA412168054 | ARSA | c.1381C>G (p.Leu461Val) c.1123C>G (p.Leu375Val) c.180+69C>G c.*114C>G (n.*114C>G) c.1495C>G (p.Leu499Val) | |
| 22 | g.50625294G>T | CA412168058 | ARSA | c.1381C>A (p.Leu461Ile) c.1123C>A (p.Leu375Ile) c.180+69C>A c.*114C>A (n.*114C>A) c.1495C>A (p.Leu499Ile) | |
| 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=) |