| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274255 |
| Start |
36166649:36166649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.523G>A |
| AA Mutation |
p.Ala175Thr(p.A175T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274255 |
| Start |
36181931:36181931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1175A>G |
| AA Mutation |
p.His392Arg(p.H392R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274255 |
| Start |
36181999:36181999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1243C>T |
| AA Mutation |
p.Arg415Ter(p.R415*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |