| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000442628 |
| Start |
143835705:143835706(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1447_1462dupATGAAGCTGGCCGCCT |
| AA Mutation |
p.Phe488TyrfsTer95(p.F488Yfs*95) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000442628 |
| Start |
143837300:143837301(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1077-6_1077-2dupTGCCA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |