| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356731 |
| Start |
179617643:179617643(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.928delT |
| AA Mutation |
p.Ser310HisfsTer6(p.S310Hfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356731 |
| Start |
179623040:179623040(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.94delT |
| AA Mutation |
p.Ser32LeufsTer40(p.S32Lfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356731 |
| Start |
179618187:179618187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.673G>T |
| AA Mutation |
p.Gly225Ter(p.G225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |