| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319211 |
| Start |
76732406:76732406(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.185delA |
| AA Mutation |
p.Asn62MetfsTer5(p.N62Mfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000319211 |
| Start |
76732611:76732616(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.390_395delAATGAA |
| AA Mutation |
p.Met131_Lys132del(p.M131_K132del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> F2R
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319211 |
| Start |
76732787:76732787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746379887
|
| CDS Mutation |
c.562G>A |
| AA Mutation |
p.Ala188Thr(p.A188T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319211 |
| Start |
76733038:76733038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.813C>A |
| AA Mutation |
p.Phe271Leu(p.F271L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319211 |
| Start |
76732503:76732503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.278C>T |
| AA Mutation |
p.Ser93Phe(p.S93F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319211 |
| Start |
76733014:76733014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755668907
|
| CDS Mutation |
c.789C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|