| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80881053:80881053(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs753314096
|
| CDS Mutation |
c.540delT |
| AA Mutation |
p.Phe180LeufsTer44(p.F180Lfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80881052:80881053(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs761205116
|
| CDS Mutation |
c.540dupT |
| AA Mutation |
p.Glu181Ter(p.E181*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CEMIP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80884282:80884282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776812160
|
| CDS Mutation |
c.725G>A |
| AA Mutation |
p.Arg242Gln(p.R242Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80906805:80906805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1554C>A |
| AA Mutation |
p.Phe518Leu(p.F518L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80936681:80936681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3017T>C |
| AA Mutation |
p.Ile1006Thr(p.I1006T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80936690:80936690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3026A>G |
| AA Mutation |
p.Tyr1009Cys(p.Y1009C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80878858:80878858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.232T>A |
| AA Mutation |
p.Ser78Thr(p.S78T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80943015:80943015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201722725
|
| CDS Mutation |
c.3770G>A |
| AA Mutation |
p.Arg1257His(p.R1257H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80929066:80929066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2504A>T |
| AA Mutation |
p.Asn835Ile(p.N835I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80880984:80880984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.465A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80947037:80947038(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3934dupG |
| AA Mutation |
p.Ala1312GlyfsTer30(p.A1312Gfs*30) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|