| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.220164733C>A | CA115207 | RAB3GAP2 | c.*479G>T (n.*479G>T) c.3154G>T (p.Gly1052Cys) c.2890G>T (p.Gly964Cys) n.3260G>T n.6164G>T c.3055G>T (p.Gly1019Cys) n.3493G>T c.3166G>T (p.Gly1056Cys) c.3052G>T (p.Gly1018Cys) c.3229G>T (p.Gly1077Cys) n.5740G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.220164733C= | CA1141581415 | RAB3GAP2 | c.*479G= (n.*479G=) c.3154G= (p.Gly1052=) c.2890G= (p.Gly964=) n.3260G= n.6164G= c.3055G= (p.Gly1019=) n.3493G= c.3166G= (p.Gly1056=) c.3052G= (p.Gly1018=) c.3229G= (p.Gly1077=) n.5740G= | dbSNP |
| 1 | g.220164733C>T | CA344633769 | RAB3GAP2 | c.*479G>A (n.*479G>A) c.3154G>A (p.Gly1052Ser) c.2890G>A (p.Gly964Ser) n.3260G>A n.6164G>A c.3055G>A (p.Gly1019Ser) n.3493G>A c.3166G>A (p.Gly1056Ser) c.3052G>A (p.Gly1018Ser) c.3229G>A (p.Gly1077Ser) n.5740G>A | dbSNP gnomAD v4 |