| ID |
4 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000248594 |
| Start |
77600806:77600807(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.695_695+1insTGCAGGCTGTGGAAGAACAGGTGCCATTT |
| AA Mutation |
p.Cys242LeufsTer13(p.C242Lfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000248594 |
| Start |
77611046:77611047(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.939_939+1insAATGAAATTAACACTGAAAACATGGTCA |
| AA Mutation |
p.Ser323LysfsTer2(p.S323Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_insertion;splice_region_variant |
| Transcription ID |
ENST00000248594 |
| Start |
77537645:77537646(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.99_99+1insCGGTTAAGAAGATTGTCTACCAAATATAGAACA |
| AA Mutation |
p.Arg34_Thr44dup(p.R34_T44dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |