| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529230 |
| Start |
46788741:46788741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1908A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000529230 |
| Start |
46744167:46744168(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5954_5955insTGCT |
| AA Mutation |
p.Arg1986AlafsTer16(p.R1986Afs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000529230 |
| Start |
46754887:46754887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4869+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |