| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000391403 |
| Start |
22416525:22416525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1287A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000391403 |
| Start |
22415596:22415596(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs770098578
|
| CDS Mutation |
c.2216delT |
| AA Mutation |
p.Phe739SerfsTer17(p.F739Sfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000391403 |
| Start |
22416587:22416587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1225A>T |
| AA Mutation |
p.Lys409Ter(p.K409*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |