Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.15642040C>G | CA351605800 | BTD | c.382C>G (p.Arg128Gly) n.1221C>G c.148C>G (p.Arg50Gly) c.442C>G (p.Arg148Gly) c.448C>G (p.Arg150Gly) c.160C>G (p.Arg54Gly) n.517C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.15642040C>T | CA2277309 | BTD | c.382C>T (p.Arg128Cys) n.1221C>T c.148C>T (p.Arg50Cys) c.442C>T (p.Arg148Cys) c.448C>T (p.Arg150Cys) c.160C>T (p.Arg54Cys) n.517C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |