| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311895 |
| Start |
13935664:13935664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202186213
|
| CDS Mutation |
c.1732G>A |
| AA Mutation |
p.Val578Met(p.V578M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311895 |
| Start |
13947897:13947897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2301C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000311895 |
| Start |
13920358:13920358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.193C>T |
| AA Mutation |
p.Gln65Ter(p.Q65*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |