| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381033 |
| Start |
27924495:27924495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646G>A |
| AA Mutation |
p.Gly216Arg(p.G216R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381033 |
| Start |
27924376:27924376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.527G>T |
| AA Mutation |
p.Arg176Leu(p.R176L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381033 |
| Start |
27924388:27924388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.539C>T |
| AA Mutation |
p.Ala180Val(p.A180V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |