| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333129 |
| Start |
163610430:163610430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1402C>T |
| AA Mutation |
p.Leu468Phe(p.L468F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333129 |
| Start |
163611676:163611676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751344935
|
| CDS Mutation |
c.156C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000333129 |
| Start |
163609893:163609893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1939C>T |
| AA Mutation |
p.Arg647Ter(p.R647*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |