| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295256 |
| Start |
94299505:94299505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.575A>G |
| AA Mutation |
p.Lys192Arg(p.K192R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295256 |
| Start |
94317878:94317878(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.221delA |
| AA Mutation |
p.Asn74ThrfsTer38(p.N74Tfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295256 |
| Start |
94299503:94299503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373744321
|
| CDS Mutation |
c.577C>T |
| AA Mutation |
p.Arg193Ter(p.R193*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |