| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26780644:26780645(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6747dupA |
| AA Mutation |
p.Glu2250ArgfsTer28(p.E2250Rfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26774936:26774937(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4710dupT |
| AA Mutation |
p.Asn1571Ter(p.N1571*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26772807:26772827(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3540-5_3555delTGGAGCAGGAGCAATTCAGTT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |