| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375448 |
| Start |
17342085:17342085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.795T>G |
| AA Mutation |
p.Ile265Met(p.I265M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375448 |
| Start |
17363564:17363564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1801C>A |
| AA Mutation |
p.Pro601Thr(p.P601T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375448 |
| Start |
17363729:17363729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1966T>A |
| AA Mutation |
p.Phe656Ile(p.F656I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |