Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35503623C>G | CA227700 | TULP1 | c.1259G>C (p.Arg420Pro) c.1100G>C (p.Arg367Pro) n.435G>C n.276G>C c.1253G>C (p.Arg418Pro) | ClinVar dbSNP gnomAD v4 |
6 | g.35503623C>T | CA363779162 | TULP1 | c.1259G>A (p.Arg420His) c.1100G>A (p.Arg367His) n.435G>A n.276G>A c.1253G>A (p.Arg418His) | ClinVar dbSNP gnomAD v4 COSMIC |