| ID |
8 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160058118:160058122(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2893_2897delTTTAT |
| AA Mutation |
p.Phe965ValfsTer2(p.F965Vfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356956 |
| Start |
160032995:160032995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1099G>T |
| AA Mutation |
p.Gly367Ter(p.G367*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356956 |
| Start |
160070032:160070032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4417C>T |
| AA Mutation |
p.Arg1473Ter(p.R1473*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |