| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69961419:69961420(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.705_706insGTTATAAT |
| AA Mutation |
p.Tyr236ValfsTer26(p.Y236Vfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69961446:69961446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.681-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KLHL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69961334:69961334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.791G>T |
| AA Mutation |
p.Trp264Leu(p.W264L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69839126:69839126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1264A>G |
| AA Mutation |
p.Asn422Asp(p.N422D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69701759:69701759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2190G>T |
| AA Mutation |
p.Met730Ile(p.M730I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69701760:69701760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2189T>C |
| AA Mutation |
p.Met730Thr(p.M730T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69707643:69707643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2169A>C |
| AA Mutation |
p.Gln723His(p.Q723H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377844 |
| Start |
70107490:70107490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.210G>T |
| AA Mutation |
p.Lys70Asn(p.K70N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377844 |
| Start |
70107610:70107610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764920556
|
| CDS Mutation |
c.90C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|