| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55821497:55821497(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.561delG |
| AA Mutation |
p.Asn188ThrfsTer28(p.N188Tfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55821522:55821522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CES1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55820445:55820445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775828820
|
| 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 |
ENST00000361503 |
| Start |
55810629:55810629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1203G>T |
| AA Mutation |
p.Glu401Asp(p.E401D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55823666:55823666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373389314
|
| CDS Mutation |
c.420C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55833011:55833011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.45G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55810647:55810647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1185G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55816963:55816963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140353865
|
| CDS Mutation |
c.904-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|