| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221954 |
| Start |
41626952:41626952(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs550011355
|
| CDS Mutation |
c.12delC |
| AA Mutation |
p.Ser5GlnfsTer15(p.S5Qfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000221954 |
| Start |
41620212:41620212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.626C>A |
| AA Mutation |
p.Ser209Ter(p.S209*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CEACAM4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221954 |
| Start |
41625657:41625657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147125003
|
| CDS Mutation |
c.368G>A |
| AA Mutation |
p.Arg123Gln(p.R123Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000221954 |
| Start |
41626900:41626900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.64G>A |
| AA Mutation |
p.Ala22Thr(p.A22T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|