| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000298310 |
| Start |
49806118:49806118(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1760delC |
| AA Mutation |
p.Pro587HisfsTer4(p.P587Hfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000298310 |
| Start |
49802667:49802667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1974+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000298310 |
| Start |
49832206:49832206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.806+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |