| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000528054 |
| Start |
24311015:24311015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.444G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000528054 |
| Start |
24311610:24311610(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1043delG |
| AA Mutation |
p.Gly348AlafsTer17(p.G348Afs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000528054 |
| Start |
24311699:24311699(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1133delG |
| AA Mutation |
p.Gly378ValfsTer47(p.G378Vfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |