| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39115222:39115222(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2107delG |
| AA Mutation |
p.Val703SerfsTer41(p.V703Sfs*41) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39115258:39115259(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2145dupG |
| AA Mutation |
p.Tyr716ValfsTer2(p.Y716Vfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KLHL5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39082097:39082097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767326522
|
| CDS Mutation |
c.976C>T |
| AA Mutation |
p.Arg326Cys(p.R326C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39096873:39096873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1433C>T |
| AA Mutation |
p.Thr478Ile(p.T478I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39062858:39062858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201110544
|
| CDS Mutation |
c.344G>A |
| AA Mutation |
p.Arg115Gln(p.R115Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39076032:39076032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.589T>C |
| AA Mutation |
p.Phe197Leu(p.F197L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39086687:39086687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1211A>C |
| AA Mutation |
p.Lys404Thr(p.K404T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504108 |
| Start |
39062527:39062527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13T>G |
| AA Mutation |
p.Tyr5Asp(p.Y5D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|