| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276659 |
| Start |
107989124:107989124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.215G>C |
| AA Mutation |
p.Gly72Ala(p.G72A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276659 |
| Start |
107960734:107960734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs192607553
|
| CDS Mutation |
c.367C>T |
| AA Mutation |
p.Arg123Cys(p.R123C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000276659 |
| Start |
107960722:107960722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.379G>T |
| AA Mutation |
p.Glu127Ter(p.E127*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |