| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268459 |
| Start |
50633375:50633375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757531250
|
| CDS Mutation |
c.1007G>A |
| AA Mutation |
p.Arg336Gln(p.R336Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268459 |
| Start |
50632391:50632391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs554470098
|
| CDS Mutation |
c.806C>T |
| AA Mutation |
p.Thr269Met(p.T269M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268459 |
| Start |
50630267:50630267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377648064
|
| CDS Mutation |
c.544C>T |
| AA Mutation |
p.Arg182Trp(p.R182W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |