| 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 |
| 3 | g.15642040C>A | CA351605798 | BTD | c.382C>A (p.Arg128Ser) n.1221C>A c.148C>A (p.Arg50Ser) c.442C>A (p.Arg148Ser) c.448C>A (p.Arg150Ser) c.160C>A (p.Arg54Ser) n.517C>A | dbSNP gnomAD v4 |
| 3 | g.15642040C= | CA1347644965 | BTD | c.382C= (p.Arg128=) n.1221C= c.148C= (p.Arg50=) c.442C= (p.Arg148=) c.448C= (p.Arg150=) c.160C= (p.Arg54=) n.517C= | dbSNP |