| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252486 |
| Start |
44909113:44909113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.817G>C |
| AA Mutation |
p.Glu273Gln(p.E273Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252486 |
| Start |
44908644:44908644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.348G>T |
| AA Mutation |
p.Gln116His(p.Q116H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252486 |
| Start |
44909181:44909181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.885C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |