| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197396258:197396258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3337A>G |
| AA Mutation |
p.Thr1113Ala(p.T1113A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197392348:197392348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3870T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000335508 |
| Start |
197403652:197403652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1652T>A |
| AA Mutation |
p.Leu551Ter(p.L551*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |