| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357402 |
| Start |
29836786:29836786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.737G>T |
| AA Mutation |
p.Gly246Val(p.G246V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357402 |
| Start |
29831002:29831002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146114293
|
| CDS Mutation |
c.250C>T |
| AA Mutation |
p.Arg84Cys(p.R84C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357402 |
| Start |
29841924:29841924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748325373
|
| CDS Mutation |
c.1446C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |