| ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295971 |
| Start |
40437885:40437886(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1007_1008dupCG |
| AA Mutation |
p.Ala337ArgfsTer38(p.A337Rfs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295971 |
| Start |
40438519:40438520(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.374dupA |
| AA Mutation |
p.Arg126AlafsTer5(p.R126Afs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295971 |
| Start |
40436440:40436440(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1330+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |