| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252242 |
| Start |
52520119:52520119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.178T>A |
| AA Mutation |
p.Tyr60Asn(p.Y60N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252242 |
| Start |
52517624:52517624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1058G>T |
| AA Mutation |
p.Ser353Ile(p.S353I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252242 |
| Start |
52516776:52516776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1300G>T |
| AA Mutation |
p.Glu434Ter(p.E434*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |