Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41967288C>G | CA406035074 | ATP1A3 | c.3013G>C (p.Asp1005His) c.2974G>C (p.Asp992His) c.3007G>C (p.Asp1003His) c.2884G>C (p.Asp962His) | ClinVar dbSNP |
19 | g.41967288C>A | CA346045 | ATP1A3 | c.3013G>T (p.Asp1005Tyr) c.2974G>T (p.Asp992Tyr) c.3007G>T (p.Asp1003Tyr) c.2884G>T (p.Asp962Tyr) | dbSNP |
19 | g.41967288C>T | CA406035073 | ATP1A3 | c.3013G>A (p.Asp1005Asn) c.2974G>A (p.Asp992Asn) c.3007G>A (p.Asp1003Asn) c.2884G>A (p.Asp962Asn) | ClinVar dbSNP gnomAD v2 COSMIC |