| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000400521 |
| Start |
19878165:19878165(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1370delC |
| AA Mutation |
p.Pro457HisfsTer34(p.P457Hfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000400521 |
| Start |
19895447:19895448(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.908dupA |
| AA Mutation |
p.Glu304GlyfsTer7(p.E304Gfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000400521 |
| Start |
19911376:19911376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.662+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |