| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000447234 |
| Start |
195729677:195729710(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2000_2033delTGAGTGTGGCTTCCCCGGAAGACCTCACTGACCC |
| AA Mutation |
p.Leu667ProfsTer7(p.L667Pfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000447234 |
| Start |
195725012:195725012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.409G>T |
| AA Mutation |
p.Glu137Ter(p.E137*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |