| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000322954 |
| Start |
70682790:70682790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.790G>T |
| AA Mutation |
p.Glu264Ter(p.E264*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70669407:70669408(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1276_1277insATTT |
| AA Mutation |
p.Leu426HisfsTer14(p.L426Hfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UACA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70695061:70695061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.257C>T |
| AA Mutation |
p.Ala86Val(p.A86V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70668481:70668481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2203A>C |
| AA Mutation |
p.Asn735His(p.N735H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70679675:70679675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777479598
|
| CDS Mutation |
c.824G>A |
| AA Mutation |
p.Arg275Gln(p.R275Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70668382:70668382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2302C>A |
| AA Mutation |
p.Leu768Ile(p.L768I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70669126:70669126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1558T>G |
| AA Mutation |
p.Phe520Val(p.F520V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70691360:70691360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.305G>A |
| AA Mutation |
p.Arg102Lys(p.R102K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70699569:70699569(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.170delA |
| AA Mutation |
p.Lys57ArgfsTer8(p.K57Rfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000322954 |
| Start |
70666759:70666759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3925G>T |
| AA Mutation |
p.Glu1309Ter(p.E1309*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000322954 |
| Start |
70660195:70660195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4135G>T |
| AA Mutation |
p.Glu1379Ter(p.E1379*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000322954 |
| Start |
70671964:70671964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1168+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|