| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279404G>A | CA16608326 | ANKRD11 | c.7138C>T (p.Gln2380Ter) c.*6941C>T (n.*6941C>T) c.745-4213C>T (n.745-4213C>T) c.152-4213C>T n.313C>T c.7036C>T (p.Gln2346Ter) c.6841C>T (p.Gln2281Ter) c.7009C>T (p.Gln2337Ter) | ClinVar dbSNP |
| 16 | g.89279404G>C | CA397149232 | ANKRD11 | c.7138C>G (p.Gln2380Glu) c.*6941C>G (n.*6941C>G) c.745-4213C>G (n.745-4213C>G) c.152-4213C>G n.313C>G c.7036C>G (p.Gln2346Glu) c.6841C>G (p.Gln2281Glu) c.7009C>G (p.Gln2337Glu) | dbSNP gnomAD v4 |
| 16 | g.89279404G= | CA2241586688 | ANKRD11 | c.7138C= (p.Gln2380=) c.*6941C= (n.*6941C=) c.745-4213C= (n.745-4213C=) c.152-4213C= n.313C= c.7036C= (p.Gln2346=) c.6841C= (p.Gln2281=) c.7009C= (p.Gln2337=) | dbSNP |