| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239461 |
| Start |
170736092:170736092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.644C>T |
| AA Mutation |
p.Ala215Val(p.A215V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239461 |
| Start |
170664324:170664324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.106G>T |
| AA Mutation |
p.Val36Phe(p.V36F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239461 |
| Start |
170664387:170664387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748836293
|
| CDS Mutation |
c.169G>A |
| AA Mutation |
p.Val57Met(p.V57M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |