| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285393 |
| Start |
86113766:86113766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.188A>C |
| AA Mutation |
p.Asn63Thr(p.N63T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285393 |
| Start |
86152857:86152857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376070860
|
| CDS Mutation |
c.933C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000285393 |
| Start |
86099039:86099039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759946535
|
| CDS Mutation |
c.61C>T |
| AA Mutation |
p.Arg21Ter(p.R21*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |