Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6151813C>A | CA3624167 | F13A1 | c.2045G>T (p.Arg682Leu) c.2207G>T (p.Arg736Leu) | dbSNP ExAC gnomAD v2 |
6 | g.6151813C>T | CA126612 | F13A1 | c.2045G>A (p.Arg682His) c.2207G>A (p.Arg736His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6151813C= | CA1607955594 | F13A1 | c.2045G= (p.Arg682=) c.2207G= (p.Arg736=) | dbSNP |