| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340022 |
| Start |
92241062:92241062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.193A>G |
| AA Mutation |
p.Thr65Ala(p.T65A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000340022 |
| Start |
92234553:92234553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761571988
|
| CDS Mutation |
c.885C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000340022 |
| Start |
92236480:92236480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.418C>T |
| AA Mutation |
p.Arg140Ter(p.R140*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |