| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262160 |
| Start |
47845414:47845414(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1206delT |
| AA Mutation |
p.Phe402LeufsTer7(p.F402Lfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262160 |
| Start |
47869268:47869268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.495C>G |
| AA Mutation |
p.Tyr165Ter(p.Y165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262160 |
| Start |
47841840:47841840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1391C>G |
| AA Mutation |
p.Ser464Ter(p.S464*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |