| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377424 |
| Start |
9037611:9037611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1481T>C |
| AA Mutation |
p.Leu494Pro(p.L494P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377424 |
| Start |
9057554:9057554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.187G>T |
| AA Mutation |
p.Glu63Ter(p.E63*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000377424 |
| Start |
9038430:9038430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1174+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |