| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000618819 |
| Start |
75469838:75469839(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1520_1521delCT |
| AA Mutation |
p.Pro507ArgfsTer35(p.P507Rfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000618819 |
| Start |
75505918:75505942(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.701_725delACCTGGGTGGGTACGTCAAAATTGA |
| AA Mutation |
p.Asn234IlefsTer13(p.N234Ifs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000618819 |
| Start |
75490303:75490303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.969-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |