| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159129:20159129(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1232delA |
| AA Mutation |
p.Asn411ThrfsTer23(p.N411Tfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20158426:20158426(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1935delA |
| AA Mutation |
p.Lys645AsnfsTer2(p.K645Nfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MACC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159862:20159862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.499G>A |
| AA Mutation |
p.Asp167Asn(p.D167N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159240:20159240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1121T>G |
| AA Mutation |
p.Ile374Ser(p.I374S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20160224:20160224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.137T>C |
| AA Mutation |
p.Leu46Pro(p.L46P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20161846:20161846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.17G>T |
| AA Mutation |
p.Arg6Ile(p.R6I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20160092:20160092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.269G>T |
| AA Mutation |
p.Arg90Ile(p.R90I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159347:20159347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs535443647
|
| CDS Mutation |
c.1014C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000332878 |
| Start |
20160039:20160039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.322G>T |
| AA Mutation |
p.Glu108Ter(p.E108*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|