| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336411 |
| Start |
99780017:99780017(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.140delT |
| AA Mutation |
p.Leu47TrpfsTer43(p.L47Wfs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336411 |
| Start |
99762157:99762157(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1137delA |
| AA Mutation |
p.Asp380MetfsTer15(p.D380Mfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000336411 |
| Start |
99779990:99779990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.165+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |