| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247452 |
| Start |
142203375:142203375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.613T>A |
| AA Mutation |
p.Phe205Ile(p.F205I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247452 |
| Start |
142203154:142203154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.834G>T |
| AA Mutation |
p.Trp278Cys(p.W278C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247452 |
| Start |
142203790:142203790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.198T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |