| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356082 |
| Start |
209616604:209616604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3249A>T |
| AA Mutation |
p.Gln1083His(p.Q1083H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356082 |
| Start |
209625997:209625997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1627G>T |
| AA Mutation |
p.Gly543Cys(p.G543C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356082 |
| Start |
209616573:209616573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3280C>T |
| AA Mutation |
p.Gln1094Ter(p.Q1094*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |