| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000217289 |
| Start |
6116044:6116044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.152A>C |
| AA Mutation |
p.Asn51Thr(p.N51T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217289 |
| Start |
6084085:6084085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200005649
|
| CDS Mutation |
c.1673C>T |
| AA Mutation |
p.Ala558Val(p.A558V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000217289 |
| Start |
6110368:6110368(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs758685864
|
| CDS Mutation |
c.676delC |
| AA Mutation |
p.Gln226SerfsTer26(p.Q226Sfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FERMT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217289 |
| Start |
6085151:6085151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1508A>C |
| AA Mutation |
p.Gln503Pro(p.Q503P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|