| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000402685 |
| Start |
41573208:41573209(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2431_2432delTT |
| AA Mutation |
p.Leu811ArgfsTer7(p.L811Rfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402685 |
| Start |
41567849:41567849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1534G>T |
| AA Mutation |
p.Glu512Ter(p.E512*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402685 |
| Start |
41555756:41555756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1361T>A |
| AA Mutation |
p.Leu454Ter(p.L454*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |