| ID |
1 |
| Mutation Consequence |
stop_gained;frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000256585 |
| Start |
119794685:119794686(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.410-1_410insCACTGTGCTGAGATGAGCTCCAATAACA |
| AA Mutation |
p.Asn137ThrfsTer4(p.N137Tfs*4) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000256585 |
| Start |
119799846:119799847(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.181_182insGAGTGGCTGGGGTGGGGTGCAGGCA |
| AA Mutation |
p.Tyr61Ter(p.Y61*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000256585 |
| Start |
119798495:119798495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.409+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |