| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263915 |
| Start |
164619690:164619690(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.321delA |
| AA Mutation |
p.Lys107AsnfsTer3(p.K107Nfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000263915 |
| Start |
164508453:164508453(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1023+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000263915 |
| Start |
164621307:164621307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>T |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |