| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000295822 |
| Start |
170907643:170907643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.164A>G |
| AA Mutation |
p.Lys55Arg(p.K55R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295822 |
| Start |
170907055:170907055(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.204delA |
| AA Mutation |
p.Lys68AsnfsTer24(p.K68Nfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295822 |
| Start |
170907724:170907724(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.83delA |
| AA Mutation |
p.Asn28ThrfsTer13(p.N28Tfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |