| Mutation ID |
46 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142027737:142027737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782081782
|
| CDS Mutation |
c.1221+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
47 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142063587:142063587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373622603
|
| CDS Mutation |
c.4345+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MGAM
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142062601:142062601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4156T>G |
| AA Mutation |
p.Phe1386Val(p.F1386V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142021069:142021069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146995745
|
| CDS Mutation |
c.544C>T |
| AA Mutation |
p.Arg182Cys(p.R182C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142054883:142054883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749121609
|
| CDS Mutation |
c.3289C>T |
| AA Mutation |
p.Arg1097Cys(p.R1097C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142094784:142094784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4691A>C |
| AA Mutation |
p.Glu1564Ala(p.E1564A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142059887:142059887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3980C>A |
| AA Mutation |
p.Pro1327His(p.P1327H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142064386:142064386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4348T>A |
| AA Mutation |
p.Leu1450Met(p.L1450M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142034368:142034368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs191698936
|
| CDS Mutation |
c.1776C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142105825:142105825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369977200
|
| CDS Mutation |
c.5508C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142005575:142005575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.45G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000549489 |
| Start |
142063522:142063522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4281C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|