| Mutation ID |
22 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54528247:54528247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2376G>A |
| AA Mutation |
p.Trp792Ter(p.W792*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54508424:54508425(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.399_400insAGTGCTCAATATATTCCGAGTGAATCTAT |
| AA Mutation |
p.Leu134SerfsTer11(p.L134Sfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NCKAP1L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54531266:54531266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2513G>A |
| AA Mutation |
p.Arg838Gln(p.R838Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54509686:54509686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs180951280
|
| CDS Mutation |
c.524G>A |
| AA Mutation |
p.Arg175His(p.R175H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54507889:54507889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.343T>A |
| AA Mutation |
p.Cys115Ser(p.C115S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54526670:54526670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376865577
|
| CDS Mutation |
c.2299C>T |
| AA Mutation |
p.Arg767Cys(p.R767C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54500566:54500566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.247G>A |
| AA Mutation |
p.Glu83Lys(p.E83K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54508473:54508473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.448G>T |
| AA Mutation |
p.Asp150Tyr(p.D150Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54516246:54516246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.949A>C |
| AA Mutation |
p.Lys317Gln(p.K317Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54521222:54521222(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759730685
|
| CDS Mutation |
c.1862G>A |
| AA Mutation |
p.Arg621Gln(p.R621Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000293373 |
| Start |
54520760:54520760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540937692
|
| CDS Mutation |
c.1692T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|