| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245479 |
| Start |
72121497:72121497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.106C>T |
| AA Mutation |
p.Pro36Ser(p.P36S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245479 |
| Start |
72123912:72123912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1055C>T |
| AA Mutation |
p.Ala352Val(p.A352V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245479 |
| Start |
72122914:72122914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752697003
|
| CDS Mutation |
c.627C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |