| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253024 |
| Start |
58548313:58548313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1121G>A |
| AA Mutation |
p.Arg374Gln(p.R374Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253024 |
| Start |
58549816:58549816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2062G>T |
| AA Mutation |
p.Asp688Tyr(p.D688Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253024 |
| Start |
58545855:58545855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.545A>G |
| AA Mutation |
p.Gln182Arg(p.Q182R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |