| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000370397 |
| Start |
100207229:100207229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1231+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370397 |
| Start |
100222981:100222981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.201-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHUK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370397 |
| Start |
100204566:100204566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1447T>G |
| AA Mutation |
p.Phe483Val(p.F483V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000370397 |
| Start |
100207230:100207230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1231G>T |
| AA Mutation |
p.Val411Leu(p.V411L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370397 |
| Start |
100205185:100205185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1246A>C |
| AA Mutation |
p.Ile416Leu(p.I416L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370397 |
| Start |
100194068:100194068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1890T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|