| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13235666C>T | CA404336785 | CACNA1A | c.5015G>A (p.Arg1672His) c.5021G>A (p.Arg1674His) c.434G>A n.239G>A c.176G>A (p.Arg59His) n.220G>A c.5018G>A (p.Arg1673His) n.1004G>A c.330G>A c.5024G>A (p.Arg1675His) c.311G>A (p.Arg104His) c.5033G>A (p.Arg1678His) c.4877G>A (p.Arg1626His) c.275G>A n.408G>A c.419G>A (p.Arg140His) n.9G>A c.5219G>A (p.Arg1740His) c.1073G>A (p.Arg358His) c.476G>A (p.Arg159His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235666C>G | CA16044236 | CACNA1A | c.5015G>C (p.Arg1672Pro) c.5021G>C (p.Arg1674Pro) c.434G>C n.239G>C c.176G>C (p.Arg59Pro) n.220G>C c.5018G>C (p.Arg1673Pro) n.1004G>C c.330G>C c.5024G>C (p.Arg1675Pro) c.311G>C (p.Arg104Pro) c.5033G>C (p.Arg1678Pro) c.4877G>C (p.Arg1626Pro) c.275G>C n.408G>C c.419G>C (p.Arg140Pro) n.9G>C c.5219G>C (p.Arg1740Pro) c.1073G>C (p.Arg358Pro) c.476G>C (p.Arg159Pro) | ClinVar dbSNP |
| 19 | g.13235666C= | CA2323795776 | CACNA1A | c.5015G= (p.Arg1672=) c.5021G= (p.Arg1674=) c.434G= n.239G= c.176G= (p.Arg59=) n.220G= c.5018G= (p.Arg1673=) n.1004G= c.330G= c.5024G= (p.Arg1675=) c.311G= (p.Arg104=) c.5033G= (p.Arg1678=) c.4877G= (p.Arg1626=) c.275G= n.408G= c.419G= (p.Arg140=) n.9G= c.5219G= (p.Arg1740=) c.1073G= (p.Arg358=) c.476G= (p.Arg159=) | dbSNP dbSNP |