| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296849 |
| Start |
1037961:1037961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375289481
|
| CDS Mutation |
c.944G>A |
| AA Mutation |
p.Arg315Gln(p.R315Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296849 |
| Start |
1036312:1036312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369152047
|
| CDS Mutation |
c.715G>A |
| AA Mutation |
p.Glu239Lys(p.E239K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296849 |
| Start |
1037851:1037851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776840483
|
| CDS Mutation |
c.834G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |