| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361804 |
| Start |
110583907:110583907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1036G>A |
| AA Mutation |
p.Glu346Lys(p.E346K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361804 |
| Start |
110589652:110589652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1353G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361804 |
| Start |
110577859:110577859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.295C>T |
| AA Mutation |
p.Arg99Ter(p.R99*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |