Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.56633654G>A | CA353286193 | TASOR | c.3137C>T (p.Thr1046Ile) c.2954C>T (p.Thr985Ile) c.1826C>T (p.Thr609Ile) n.319C>T c.1232C>T (p.Thr411Ile) c.3014C>T (p.Thr1005Ile) c.1949C>T (p.Thr650Ile) c.2189C>T (p.Thr730Ile) | dbSNP gnomAD v4 |
3 | g.56633654G>C | CA2461363 | TASOR | c.3137C>G (p.Thr1046Arg) c.2954C>G (p.Thr985Arg) c.1826C>G (p.Thr609Arg) n.319C>G c.1232C>G (p.Thr411Arg) c.3014C>G (p.Thr1005Arg) c.1949C>G (p.Thr650Arg) c.2189C>G (p.Thr730Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |