| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272847 |
| Start |
208489145:208489145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1210T>A |
| AA Mutation |
p.Phe404Ile(p.F404I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000272847 |
| Start |
208481122:208481122(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1036delG |
| AA Mutation |
p.Glu346ArgfsTer25(p.E346Rfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000272847 |
| Start |
208481100:208481100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1012A>T |
| AA Mutation |
p.Arg338Ter(p.R338*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |