| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222002 |
| Start |
47882158:47882158(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.398delT |
| AA Mutation |
p.Phe133SerfsTer5(p.F133Sfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222002 |
| Start |
47882154:47882154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.402G>A |
| AA Mutation |
p.Trp134Ter(p.W134*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000222002 |
| Start |
47883575:47883575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |