| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313080 |
| Start |
76477255:76477255(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.932delC |
| AA Mutation |
p.Pro311HisfsTer26(p.P311Hfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313080 |
| Start |
76477663:76477663(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.882delT |
| AA Mutation |
p.Phe294LeufsTer6(p.F294Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000313080 |
| Start |
76473837:76473837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1725+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |