| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249005 |
| Start |
42693468:42693468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.484G>A |
| AA Mutation |
p.Val162Met(p.V162M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249005 |
| Start |
42692979:42692979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767523802
|
| CDS Mutation |
c.973C>T |
| AA Mutation |
p.Arg325Trp(p.R325W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249005 |
| Start |
42693132:42693132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770640796
|
| CDS Mutation |
c.820C>T |
| AA Mutation |
p.Arg274Cys(p.R274C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |