| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.133017940G>A | CA210705 | TG | c.6725G>A (p.Arg2242His) c.168+74G>A c.2091G>A c.1124G>A (p.Arg375His) n.786G>A c.3380G>A c.6533G>A (p.Arg2178His) c.6662G>A (p.Arg2221His) c.6659G>A (p.Arg2220His) c.6554G>A (p.Arg2185His) c.6506G>A (p.Arg2169His) c.6464G>A (p.Arg2155His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133017940G= | CA1821046397 | TG | c.6725G= (p.Arg2242=) c.168+74G= c.2091G= c.1124G= (p.Arg375=) n.786G= c.3380G= c.6533G= (p.Arg2178=) c.6662G= (p.Arg2221=) c.6659G= (p.Arg2220=) c.6554G= (p.Arg2185=) c.6506G= (p.Arg2169=) c.6464G= (p.Arg2155=) | dbSNP |
| 8 | g.133017940G>T | CA372233714 | TG | c.6725G>T (p.Arg2242Leu) c.168+74G>T c.2091G>T c.1124G>T (p.Arg375Leu) n.786G>T c.3380G>T c.6533G>T (p.Arg2178Leu) c.6662G>T (p.Arg2221Leu) c.6659G>T (p.Arg2220Leu) c.6554G>T (p.Arg2185Leu) c.6506G>T (p.Arg2169Leu) c.6464G>T (p.Arg2155Leu) | dbSNP gnomAD v4 |