| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114325292:114325292(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1455delT |
| AA Mutation |
p.Phe485LeufsTer100(p.F485Lfs*100) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000361283 |
| Start |
114325218:114325220(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1378_1380delCCT |
| AA Mutation |
p.Pro460del(p.P460del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHAMP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114325577:114325577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377211098
|
| CDS Mutation |
c.1735G>A |
| AA Mutation |
p.Gly579Ser(p.G579S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114324750:114324750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.908C>T |
| AA Mutation |
p.Pro303Leu(p.P303L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114325428:114325428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1586C>T |
| AA Mutation |
p.Ala529Val(p.A529V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114323864:114323864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371511810
|
| CDS Mutation |
c.22C>T |
| AA Mutation |
p.Arg8Cys(p.R8C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114325197:114325197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1355C>A |
| AA Mutation |
p.Ser452Tyr(p.S452Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114324068:114324068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782107379
|
| CDS Mutation |
c.226A>G |
| AA Mutation |
p.Asn76Asp(p.N76D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114324017:114324017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.175G>T |
| AA Mutation |
p.Ala59Ser(p.A59S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114324018:114324018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.176C>T |
| AA Mutation |
p.Ala59Val(p.A59V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361283 |
| Start |
114325051:114325051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1209G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|