| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87566170:87566170(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.602delT |
| AA Mutation |
p.Phe201SerfsTer5(p.F201Sfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265724 |
| Start |
87539300:87539300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2365C>T |
| AA Mutation |
p.Arg789Ter(p.R789*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87541430:87541430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754765644
|
| CDS Mutation |
c.2246G>A |
| AA Mutation |
p.Arg749Gln(p.R749Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87550481:87550481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201352027
|
| CDS Mutation |
c.1211G>A |
| AA Mutation |
p.Arg404Gln(p.R404Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87516562:87516562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3031A>G |
| AA Mutation |
p.Ile1011Val(p.I1011V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87549886:87549886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1519G>A |
| AA Mutation |
p.Ala507Thr(p.A507T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87504442:87504442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3644A>G |
| AA Mutation |
p.Gln1215Arg(p.Q1215R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87536541:87536541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2398G>T |
| AA Mutation |
p.Asp800Tyr(p.D800Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87553903:87553903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.857G>T |
| AA Mutation |
p.Arg286Ile(p.R286I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87585542:87585542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.256G>C |
| AA Mutation |
p.Glu86Gln(p.E86Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87544911:87544911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1976G>T |
| AA Mutation |
p.Arg659Ile(p.R659I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87585564:87585564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777306673
|
| CDS Mutation |
c.234C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265724 |
| Start |
87516632:87516632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757389269
|
| CDS Mutation |
c.2961C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265724 |
| Start |
87520858:87520858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2704G>T |
| AA Mutation |
p.Glu902Ter(p.E902*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265724 |
| Start |
87550476:87550476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1216G>T |
| AA Mutation |
p.Glu406Ter(p.E406*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|