| ID |
4 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000264110 |
| Start |
175118251:175118251(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.318delA |
| AA Mutation |
p.Met107CysfsTer3(p.M107Cfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264110 |
| Start |
175097478:175097478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.944T>A |
| AA Mutation |
p.Leu315Ter(p.L315*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264110 |
| Start |
175130189:175130189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.51G>A |
| AA Mutation |
p.Trp17Ter(p.W17*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |