| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422689 |
| Start |
52385185:52385185(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1611delA |
| AA Mutation |
p.Lys537AsnfsTer60(p.K537Nfs*60) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000422689 |
| Start |
52374298:52374298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.140-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZNF880
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422689 |
| Start |
52384091:52384091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.511C>T |
| AA Mutation |
p.Leu171Phe(p.L171F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422689 |
| Start |
52384986:52384986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1406G>A |
| AA Mutation |
p.Cys469Tyr(p.C469Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422689 |
| Start |
52384500:52384500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.920G>T |
| AA Mutation |
p.Arg307Ile(p.R307I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422689 |
| Start |
52384359:52384359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753990438
|
| CDS Mutation |
c.779G>T |
| AA Mutation |
p.Arg260Ile(p.R260I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000422689 |
| Start |
52385234:52385234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1654G>T |
| AA Mutation |
p.Glu552Ter(p.E552*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|