| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276202 |
| Start |
118654747:118654747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4841C>T |
| AA Mutation |
p.Thr1614Ile(p.T1614I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276202 |
| Start |
118618701:118618701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3444T>G |
| AA Mutation |
p.His1148Gln(p.H1148Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000276202 |
| Start |
118542826:118542826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.204A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |