Gene >> PTER
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378000 |
| Start |
16511248:16511248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1042T>G |
| AA Mutation |
p.Phe348Val(p.F348V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378000 |
| Start |
16511220:16511220(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1015delA |
| AA Mutation |
p.Ile339Ter(p.I339*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |