Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.66436818A>G | CA10576999 | MAP2K1 | c.298A>G (p.Asn100Asp) c.364A>G (p.Asn122Asp) c.291+1581A>G (n.291+1581A>G) n.800A>G n.875A>G | ClinVar dbSNP |
15 | g.66436818A>T | CA392930663 | MAP2K1 | c.298A>T (p.Asn100Tyr) c.364A>T (p.Asn122Tyr) c.291+1581A>T (n.291+1581A>T) n.800A>T n.875A>T | dbSNP |
15 | g.66436818A>C | CA392930653 | MAP2K1 | c.298A>C (p.Asn100His) c.364A>C (p.Asn122His) c.291+1581A>C (n.291+1581A>C) n.800A>C n.875A>C | dbSNP gnomAD v4 |