| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361487 |
| Start |
36663484:36663484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.592G>A |
| AA Mutation |
p.Val198Ile(p.V198I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361487 |
| Start |
36663330:36663330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.438C>A |
| AA Mutation |
p.His146Gln(p.H146Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361487 |
| Start |
36663067:36663067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.175C>T |
| AA Mutation |
p.Arg59Ter(p.R59*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |