Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.32879021G>A | CA011947 | PKP2 | c.235C>T (p.Arg79Ter) c.189C>T n.239C>T n.88C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.32879021G= | CA2026352603 | PKP2 | c.235C= (p.Arg79=) c.189C= n.239C= n.88C= | dbSNP |
12 | g.32879021G>C | CA384366669 | PKP2 | c.235C>G (p.Arg79Gly) c.189C>G n.239C>G n.88C>G | dbSNP |