| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338482 |
| Start |
71536690:71536690(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs745406065
|
| CDS Mutation |
c.19delA |
| AA Mutation |
p.Met7Ter(p.M7*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338482 |
| Start |
71536958:71536958(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.281delT |
| AA Mutation |
p.Val94GlyfsTer4(p.V94Gfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHST4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338482 |
| Start |
71537353:71537353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752235839
|
| CDS Mutation |
c.676C>T |
| AA Mutation |
p.Arg226Cys(p.R226C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338482 |
| Start |
71537338:71537338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199848968
|
| CDS Mutation |
c.661C>A |
| AA Mutation |
p.Leu221Ile(p.L221I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338482 |
| Start |
71537556:71537556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs541902014
|
| CDS Mutation |
c.879C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338482 |
| Start |
71537542:71537542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144191969
|
| CDS Mutation |
c.865C>T |
| AA Mutation |
p.Arg289Ter(p.R289*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|