| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131583862G>A | CA3999410 | ARG1,MED23 | c.923G>A (p.Arg308Gln) c.665G>A (p.Arg222Gln) c.869G>A (p.Arg290Gln) c.*810G>A (n.*810G>A) c.668G>A (p.Arg223Gln) c.4095+3847C>T (n.4095+3847C>T) c.947G>A (p.Arg316Gln) c.4077+3847C>T (n.4077+3847C>T) n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583862G>T | CA365653714 | ARG1,MED23 | c.923G>T (p.Arg308Leu) c.665G>T (p.Arg222Leu) c.869G>T (p.Arg290Leu) c.*810G>T (n.*810G>T) c.668G>T (p.Arg223Leu) c.4095+3847C>A (n.4095+3847C>A) c.947G>T (p.Arg316Leu) c.4077+3847C>A (n.4077+3847C>A) n.907G>T | dbSNP |