| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251101 |
| Start |
677824:677824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967C>T |
| AA Mutation |
p.Gln323Ter(p.Q323*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251101 |
| Start |
677406:677406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1087G>T |
| AA Mutation |
p.Glu363Ter(p.E363*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000251101 |
| Start |
674307:674307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1330T>C |
| AA Mutation |
p.Ter444GlnextTer21(p.*444Qext*21) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |