Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49205282C>G | CA412956315 | CACNA1F | c.5756G>C (p.Arg1919Pro) c.5594G>C (p.Arg1865Pro) c.5789G>C (p.Arg1930Pro) c.5573G>C (p.Arg1858Pro) c.2939G>C (p.Arg980Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49205282C>A | CA412956313 | CACNA1F | c.5756G>T (p.Arg1919Leu) c.5594G>T (p.Arg1865Leu) c.5789G>T (p.Arg1930Leu) c.5573G>T (p.Arg1858Leu) c.2939G>T (p.Arg980Leu) | dbSNP gnomAD v4 |
X | g.49205282C>T | CA228910 | CACNA1F | c.5756G>A (p.Arg1919His) c.5594G>A (p.Arg1865His) c.5789G>A (p.Arg1930His) c.5573G>A (p.Arg1858His) c.2939G>A (p.Arg980His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |