| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000570248 |
| Start |
58504271:58504271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.245A>G |
| AA Mutation |
p.Gln82Arg(p.Q82R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000570248 |
| Start |
58504647:58504647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.370G>T |
| AA Mutation |
p.Ala124Ser(p.A124S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000570248 |
| Start |
58504260:58504260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374032396
|
| CDS Mutation |
c.234G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |