| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311208 |
| Start |
41620844:41620844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.996G>T |
| AA Mutation |
p.Glu332Asp(p.E332D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311208 |
| Start |
41621691:41621691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.736G>T |
| AA Mutation |
p.Gly246Cys(p.G246C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311208 |
| Start |
41620673:41620673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1167G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |