| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375006 |
| Start |
54958865:54958865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764589093
|
| CDS Mutation |
c.445G>T |
| AA Mutation |
p.Glu149Ter(p.E149*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375006 |
| Start |
54963290:54963290(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372795411
|
| CDS Mutation |
c.190C>T |
| AA Mutation |
p.Arg64Ter(p.R64*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PFKFB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375006 |
| Start |
54945462:54945462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771700798
|
| CDS Mutation |
c.1075C>T |
| AA Mutation |
p.Arg359Cys(p.R359C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375006 |
| Start |
54960913:54960913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.228T>A |
| AA Mutation |
p.Phe76Leu(p.F76L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375006 |
| Start |
54956204:54956204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.587G>T |
| AA Mutation |
p.Arg196Ile(p.R196I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375006 |
| Start |
54956242:54956243(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.548_549delAC |
| AA Mutation |
p.Asp183ValfsTer2(p.D183Vfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|