Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.114324245C>T | CA388846226 | CHAMP1 | c.403C>T (p.Gln135Ter) n.123+9602C>T n.285+3013C>T | ClinVar dbSNP |
13 | g.114324245C>G | CA388846224 | CHAMP1 | c.403C>G (p.Gln135Glu) n.123+9602C>G n.285+3013C>G | dbSNP gnomAD v4 |