| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134384168:134384168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753312357
|
| CDS Mutation |
c.133C>T |
| AA Mutation |
p.Arg45Cys(p.R45C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134387629:134387629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144109297
|
| CDS Mutation |
c.31G>A |
| AA Mutation |
p.Val11Ile(p.V11I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134383778:134383778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.523C>T |
| AA Mutation |
p.Arg175Cys(p.R175C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |