| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396634 |
| Start |
29943283:29943284(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359_360insAGCGCAAGTGGGAGGCGGCCCAT |
| AA Mutation |
p.Ile121AlafsTer8(p.I121Afs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;3_prime_UTR_variant |
| Transcription ID |
ENST00000396634 |
| Start |
29945450:29945463(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1094-1_*8delGTGTGAGACAGCTG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000396634 |
| Start |
29943266:29943266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.344-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |