Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127421337G>T | CA348397749 | PROC | c.125G>T (p.Arg42Leu) c.90G>T (p.Thr30=) n.208G>T c.308G>T (p.Arg103Leu) c.188G>T (p.Arg63Leu) c.368G>T (p.Arg123Leu) c.209G>T (p.Arg70Leu) c.101G>T (p.Arg34Leu) c.119G>T (p.Arg40Leu) | dbSNP gnomAD v4 |
2 | g.127421337G>A | CA211707 | PROC | c.125G>A (p.Arg42His) c.90G>A (p.Thr30=) n.208G>A c.308G>A (p.Arg103His) c.188G>A (p.Arg63His) c.368G>A (p.Arg123His) c.209G>A (p.Arg70His) c.101G>A (p.Arg34His) c.119G>A (p.Arg40His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |