| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000318507 |
| Start |
218135731:218135731(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934delC |
| AA Mutation |
p.Leu312SerfsTer18(p.L312Sfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000318507 |
| Start |
218135180:218135180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.379G>T |
| AA Mutation |
p.Glu127Ter(p.E127*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000318507 |
| Start |
218134820:218134820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.19G>T |
| AA Mutation |
p.Glu7Ter(p.E7*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |