| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323322 |
| Start |
63917352:63917352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.611G>A |
| AA Mutation |
p.Arg204His(p.R204H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323322 |
| Start |
63918030:63918030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.278C>T |
| AA Mutation |
p.Thr93Ile(p.T93I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000323322 |
| Start |
63917868:63917868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.348G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |