| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358415 |
| Start |
7707230:7707230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.189G>T |
| AA Mutation |
p.Met63Ile(p.M63I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358415 |
| Start |
7723484:7723484(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.902delC |
| AA Mutation |
p.Pro301LeufsTer17(p.P301Lfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358415 |
| Start |
7731887:7731887(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1538delT |
| AA Mutation |
p.Val513AlafsTer29(p.V513Afs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |