| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000531967 |
| Start |
127290128:127290128(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.665delA |
| AA Mutation |
p.Asn222MetfsTer3(p.N222Mfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000531967 |
| Start |
127327057:127327057(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.326delA |
| AA Mutation |
p.Asn109IlefsTer9(p.N109Ifs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ECHDC1
| Mutation ID |
1 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000531967 |
| Start |
127331031:127331031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.17-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|