| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18144549G>C | CA404791667 | MAST3 | c.2602G>C (p.Gly868Arg) c.2647G>C (p.Gly883Arg) c.2599G>C (p.Gly867Arg) c.2578G>C (p.Gly860Arg) c.2668G>C (p.Gly890Arg) c.2581G>C (p.Gly861Arg) c.3115G>C (p.Gly1039Arg) c.2620G>C (p.Gly874Arg) c.2596G>C (p.Gly866Arg) c.3139G>C (p.Gly1047Arg) c.3136G>C (p.Gly1046Arg) c.3118G>C (p.Gly1040Arg) c.2356G>C (p.Gly786Arg) c.2884G>C (p.Gly962Arg) c.2692G>C (p.Gly898Arg) c.2881G>C (p.Gly961Arg) c.2863G>C (p.Gly955Arg) c.2860G>C (p.Gly954Arg) c.2671G>C (p.Gly891Arg) c.2665G>C (p.Gly889Arg) c.2554G>C (p.Gly852Arg) | dbSNP gnomAD v4 |
| 19 | g.18144549G>A | CA9306255 | MAST3 | c.2602G>A (p.Gly868Ser) c.2647G>A (p.Gly883Ser) c.2599G>A (p.Gly867Ser) c.2578G>A (p.Gly860Ser) c.2668G>A (p.Gly890Ser) c.2581G>A (p.Gly861Ser) c.3115G>A (p.Gly1039Ser) c.2620G>A (p.Gly874Ser) c.2596G>A (p.Gly866Ser) c.3139G>A (p.Gly1047Ser) c.3136G>A (p.Gly1046Ser) c.3118G>A (p.Gly1040Ser) c.2356G>A (p.Gly786Ser) c.2884G>A (p.Gly962Ser) c.2692G>A (p.Gly898Ser) c.2881G>A (p.Gly961Ser) c.2863G>A (p.Gly955Ser) c.2860G>A (p.Gly954Ser) c.2671G>A (p.Gly891Ser) c.2665G>A (p.Gly889Ser) c.2554G>A (p.Gly852Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |