| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53413132G>C | CA16608889 | SMC1A | c.622C>G (p.Arg208Gly) c.346-1231C>G (n.346-1231C>G) n.466-1231C>G c.556C>G (p.Arg186Gly) c.*155C>G (n.*155C>G) | ClinVar dbSNP |
| X | g.53413132G>A | CA413259017 | SMC1A | c.622C>T (p.Arg208Trp) c.346-1231C>T (n.346-1231C>T) n.466-1231C>T c.556C>T (p.Arg186Trp) c.*155C>T (n.*155C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |