| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265723 |
| Start |
87417396:87417396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2598T>G |
| AA Mutation |
p.Ile866Met(p.I866M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265723 |
| Start |
87462808:87462808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.236G>A |
| AA Mutation |
p.Gly79Glu(p.G79E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265723 |
| Start |
87444966:87444966(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs753104429
|
| CDS Mutation |
c.1015delT |
| AA Mutation |
p.Ser339GlnfsTer3(p.S339Qfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |