| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000608424 |
| Start |
49012993:49012993(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1463delC |
| AA Mutation |
p.Pro488GlnfsTer55(p.P488Qfs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000608424 |
| Start |
49013948:49013949(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs750038548
|
| CDS Mutation |
c.2421dupG |
| AA Mutation |
p.Arg808AlafsTer3(p.R808Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> WDR6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608424 |
| Start |
49013746:49013746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2212G>A |
| AA Mutation |
p.Asp738Asn(p.D738N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608424 |
| Start |
49013639:49013639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs546787787
|
| CDS Mutation |
c.2105G>A |
| AA Mutation |
p.Arg702His(p.R702H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608424 |
| Start |
49012680:49012680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1146G>T |
| AA Mutation |
p.Glu382Asp(p.E382D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000608424 |
| Start |
49011735:49011735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.201C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|