| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10208356:10208356(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1158delC |
| AA Mutation |
p.Asn387IlefsTer36(p.N387Ifs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10185178:10185178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.144+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CLCN4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10213881:10213881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1777C>T |
| AA Mutation |
p.Arg593Cys(p.R593C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10233496:10233496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2195G>T |
| AA Mutation |
p.Arg732Ile(p.R732I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10220765:10220765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774722248
|
| CDS Mutation |
c.2080C>T |
| AA Mutation |
p.Arg694Trp(p.R694W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10208279:10208279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1078C>T |
| AA Mutation |
p.Arg360Cys(p.R360C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10213967:10213967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs36049237
|
| CDS Mutation |
c.1863C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380833 |
| Start |
10208560:10208560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747448852
|
| CDS Mutation |
c.1359C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|