Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41967744C>A | CA406035620 | ATP1A3 | c.2878G>T (p.Gly960Trp) c.2839G>T (p.Gly947Trp) c.2872G>T (p.Gly958Trp) c.2749G>T (p.Gly917Trp) | ClinVar dbSNP |
19 | g.41967744C>G | CA345685 | ATP1A3 | c.2878G>C (p.Gly960Arg) c.2839G>C (p.Gly947Arg) c.2872G>C (p.Gly958Arg) c.2749G>C (p.Gly917Arg) | ClinVar dbSNP |
19 | g.41967744C>T | CA342905 | ATP1A3 | c.2878G>A (p.Gly960Arg) c.2839G>A (p.Gly947Arg) c.2872G>A (p.Gly958Arg) c.2749G>A (p.Gly917Arg) | ClinVar dbSNP COSMIC |