Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.7070184C>T | CA127067 | C1S | n.4336C>T n.2117C>T n.3676C>T n.4979C>T n.3426C>T n.3535C>T c.1600C>T (p.Arg534Trp) c.1099C>T (p.Arg367Trp) c.1704C>T n.776C>T c.1582C>T (p.Arg528Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7070184C>G | CA383705424 | C1S | n.4336C>G n.2117C>G n.3676C>G n.4979C>G n.3426C>G n.3535C>G c.1600C>G (p.Arg534Gly) c.1099C>G (p.Arg367Gly) c.1704C>G n.776C>G c.1582C>G (p.Arg528Gly) | dbSNP |