| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345122 |
| Start |
32093258:32093258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2589G>A |
| AA Mutation |
p.Met863Ile(p.M863I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345122 |
| Start |
32091156:32091156(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.487A>G |
| AA Mutation |
p.Ile163Val(p.I163V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000345122 |
| Start |
32094173:32094173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3504T>A |
| AA Mutation |
p.Tyr1168Ter(p.Y1168*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |