| ID |
10 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000342295 |
| Start |
26415476:26415476(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.202delT |
| AA Mutation |
p.Cys68AlafsTer38(p.C68Afs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342295 |
| Start |
26430482:26430482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1147C>T |
| AA Mutation |
p.Arg383Ter(p.R383*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342295 |
| Start |
26424456:26424456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.650G>A |
| AA Mutation |
p.Trp217Ter(p.W217*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342295 |
| Start |
26406185:26406185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.109C>T |
| AA Mutation |
p.Arg37Ter(p.R37*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |