| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315170 |
| Start |
46712972:46712972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.850C>T |
| AA Mutation |
p.Pro284Ser(p.P284S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315170 |
| Start |
46717503:46717503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.241A>T |
| AA Mutation |
p.Thr81Ser(p.T81S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000315170 |
| Start |
46712931:46712931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138214038
|
| CDS Mutation |
c.891G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |