| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264010 |
| Start |
67628490:67628490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1639G>T |
| AA Mutation |
p.Asp547Tyr(p.D547Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264010 |
| Start |
67628463:67628463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1612C>A |
| AA Mutation |
p.Leu538Ile(p.L538I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264010 |
| Start |
67611968:67611968(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.799C>T |
| AA Mutation |
p.Gln267Ter(p.Q267*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |