| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262294 |
| Start |
59012406:59012406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2617A>C |
| AA Mutation |
p.Thr873Pro(p.T873P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262294 |
| Start |
59088388:59088388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.184G>A |
| AA Mutation |
p.Glu62Lys(p.E62K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262294 |
| Start |
59015703:59015703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371137363
|
| CDS Mutation |
c.2483G>A |
| AA Mutation |
p.Arg828Gln(p.R828Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |