| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265970 |
| Start |
17097175:17097175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4208C>T |
| AA Mutation |
p.Ser1403Phe(p.S1403F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265970 |
| Start |
17169628:17169628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.114T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265970 |
| Start |
17119830:17119830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2802G>A |
| AA Mutation |
p.Trp934Ter(p.W934*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |