| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000436636 |
| Start |
171066207:171066207(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3979delC |
| AA Mutation |
p.Leu1327TyrfsTer24(p.L1327Yfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000436636 |
| Start |
171139544:171139544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1345C>T |
| AA Mutation |
p.Arg449Ter(p.R449*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000436636 |
| Start |
171140500:171140500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1231C>T |
| AA Mutation |
p.Arg411Ter(p.R411*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |