| Mutation ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000330714 |
| Start |
41377157:41377157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.249+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000330714 |
| Start |
41406969:41406980(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1876_1887delATAGGCATCCAC |
| AA Mutation |
p.Ile626_His629del(p.I626_H629del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MX2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330714 |
| Start |
41377007:41377007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201924000
|
| CDS Mutation |
c.101C>T |
| AA Mutation |
p.Pro34Leu(p.P34L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330714 |
| Start |
41406883:41406883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1790T>G |
| AA Mutation |
p.Phe597Cys(p.F597C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330714 |
| Start |
41408097:41408097(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2018delA |
| AA Mutation |
p.Asn673IlefsTer110(p.N673Ifs*110) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|