Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50623878G>A | CA10654217 | ARSA | c.*1267C>T (n.*1267C>T) c.198C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623878G= | CA2410957639 | ARSA | c.*1267C= (n.*1267C=) c.198C= | |
22 | g.50623878G>T | CA2657589326 | ARSA | c.*1267C>A (n.*1267C>A) c.198C>A | gnomAD v4 |
22 | g.50623878_50623880delinsGAC | CA2410957638 | ARSA | c.*1265_*1267delinsGTC (n.*1265_*1267delinsGTC) c.196_198delinsGTC | |
22 | g.50623879A>G | CA2657589327 | ARSA | c.*1266T>C (n.*1266T>C) c.197T>C | gnomAD v4 |
22 | g.50623880_50623881del | CA2410957640 | ARSA | c.*1265_*1266del (n.*1265_*1266del) c.196_197del | dbSNP |
22 | g.50623880C>A | CA2657589329 | ARSA | c.*1265G>T (n.*1265G>T) c.196G>T | gnomAD v4 |
22 | g.50623880C= | CA2410957641 | ARSA | c.*1265G= (n.*1265G=) c.196G= | |
22 | g.50623880C>G | CA640051225 | ARSA | c.*1265G>C (n.*1265G>C) c.196G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623880C>T | CA2819315314 | ARSA | c.*1265G>A (n.*1265G>A) c.196G>A | |
22 | g.50623881A= | CA2410957642 | ARSA | c.*1264T= (n.*1264T=) c.195T= | |
22 | g.50623881A>G | CA325530783 | ARSA | c.*1264T>C (n.*1264T>C) c.195T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623882G>C | CA325530786 | ARSA | c.*1263C>G (n.*1263C>G) c.194C>G | dbSNP |
22 | g.50623882G= | CA2410957643 | ARSA | c.*1263C= (n.*1263C=) c.194C= | |
22 | g.50623883A>G | CA2657589330 | ARSA | c.*1262T>C (n.*1262T>C) c.193T>C | gnomAD v4 |
22 | g.50623884G>A | CA2657589332 | ARSA | c.*1261C>T (n.*1261C>T) c.192C>T | gnomAD v4 |
22 | g.50623884G>T | CA2657589331 | ARSA | c.*1261C>A (n.*1261C>A) c.192C>A | gnomAD v4 |
22 | g.50623885C>A | CA325530790 | ARSA | c.*1260G>T (n.*1260G>T) c.191G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623885C= | CA2410957644 | ARSA | c.*1260G= (n.*1260G=) c.191G= | |
22 | g.50623885C>G | CA2657589334 | ARSA | c.*1260G>C (n.*1260G>C) c.191G>C | gnomAD v4 |
22 | g.50623885C>T | CA1026678573 | ARSA | c.*1260G>A (n.*1260G>A) c.191G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623886G>A | CA754066246 | ARSA | c.*1259C>T (n.*1259C>T) c.190C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623886G>C | CA2410957646 | ARSA | c.*1259C>G (n.*1259C>G) c.190C>G | dbSNP |
22 | g.50623886G= | CA2410957645 | ARSA | c.*1259C= (n.*1259C=) c.190C= | |
22 | g.50623886G>T | CA2657589336 | ARSA | c.*1259C>A (n.*1259C>A) c.190C>A | gnomAD v4 |
22 | g.50623887A>C | CA2819315317 | ARSA | c.*1258T>G (n.*1258T>G) c.189T>G | |
22 | g.50623887A>G | CA2657589338 | ARSA | c.*1258T>C (n.*1258T>C) c.189T>C | gnomAD v4 |
22 | g.50623887A>T | CA2657589339 | ARSA | c.*1258T>A (n.*1258T>A) c.189T>A | gnomAD v4 |
22 | g.50623888G>A | CA1026678582 | ARSA | c.*1257C>T (n.*1257C>T) c.188C>T | gnomAD v3 gnomAD v4 |
22 | g.50623888G>C | CA2657589341 | ARSA | c.*1257C>G (n.*1257C>G) c.188C>G | gnomAD v4 |
22 | g.50623888G= | CA2410957647 | ARSA | c.*1257C= (n.*1257C=) c.188C= | |
22 | g.50623888G>T | CA2410957648 | ARSA | c.*1257C>A (n.*1257C>A) c.188C>A | dbSNP gnomAD v4 |
22 | g.50623889A>C | CA2657589344 | ARSA | c.*1256T>G (n.*1256T>G) c.187T>G | gnomAD v4 |
22 | g.50623889A>G | CA2657589345 | ARSA | c.*1256T>C (n.*1256T>C) c.187T>C | gnomAD v4 |
22 | g.50623889A>T | CA2657589346 | ARSA | c.*1256T>A (n.*1256T>A) c.187T>A | gnomAD v4 |
22 | g.50623890C>A | CA2410957650 | ARSA | c.*1255G>T (n.*1255G>T) c.186G>T | dbSNP gnomAD v4 |
22 | g.50623890C= | CA2410957649 | ARSA | c.*1255G= (n.*1255G=) c.186G= | |
22 | g.50623890C>T | CA2514617804 | ARSA | c.*1255G>A (n.*1255G>A) c.186G>A | |
22 | g.50623891T>A | CA2657589350 | ARSA | c.*1254A>T (n.*1254A>T) c.185A>T | gnomAD v4 |
22 | g.50623891T>C | CA1026678584 | ARSA | c.*1254A>G (n.*1254A>G) c.185A>G | gnomAD v3 gnomAD v4 |
22 | g.50623891T>G | CA2657589349 | ARSA | c.*1254A>C (n.*1254A>C) c.185A>C | gnomAD v4 |
22 | g.50623893C>A | CA2657589353 | ARSA | c.*1252G>T (n.*1252G>T) c.183G>T | gnomAD v4 |
22 | g.50623893C= | CA2410957651 | ARSA | c.*1252G= (n.*1252G=) c.183G= | |
22 | g.50623893C>T | CA640051226 | ARSA | c.*1252G>A (n.*1252G>A) c.183G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623894G>A | CA640051228 | ARSA | c.*1251C>T (n.*1251C>T) c.182C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623894G>C | CA2657589358 | ARSA | c.*1251C>G (n.*1251C>G) c.182C>G | gnomAD v4 |
22 | g.50623894G= | CA2410957652 | ARSA | c.*1251C= (n.*1251C=) c.182C= | |
22 | g.50623894G>T | CA2552349916 | ARSA | c.*1251C>A (n.*1251C>A) c.182C>A | gnomAD v4 |
22 | g.50623895T>A | CA2657589359 | ARSA | c.*1250A>T (n.*1250A>T) c.181A>T | gnomAD v4 |
22 | g.50623895T>C | CA2410957654 | ARSA | c.*1250A>G (n.*1250A>G) c.181A>G | dbSNP gnomAD v4 |