| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000239223 |
| Start |
172768816:172768816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138845473
|
| CDS Mutation |
c.1050G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000239223 |
| Start |
172769761:172769761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.547C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000239223 |
| Start |
172768765:172768765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1101C>A |
| AA Mutation |
p.Cys367Ter(p.C367*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |