| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369798 |
| Start |
80013283:80013283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.901A>G |
| AA Mutation |
p.Thr301Ala(p.T301A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000369798 |
| Start |
80036598:80036598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2048A>G |
| AA Mutation |
p.Gln683Arg(p.Q683R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369798 |
| Start |
80007855:80007855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.186A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |