| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280605 |
| Start |
163472587:163472587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1148G>T |
| AA Mutation |
p.Arg383Leu(p.R383L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280605 |
| Start |
163473505:163473505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761348402
|
| CDS Mutation |
c.230G>A |
| AA Mutation |
p.Gly77Glu(p.G77E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280605 |
| Start |
163472705:163472705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1030G>T |
| AA Mutation |
p.Gly344Cys(p.G344C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |