| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273221 |
| Start |
12936592:12936592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.466C>T |
| AA Mutation |
p.Arg156Cys(p.R156C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000273221 |
| Start |
12941864:12941864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754774497
|
| CDS Mutation |
c.67G>A |
| AA Mutation |
p.Val23Ile(p.V23I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000273221 |
| Start |
12915629:12915629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2167C>T |
| AA Mutation |
p.Gln723Ter(p.Q723*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |