| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9932813:9932813(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3535delC |
| AA Mutation |
p.Gln1179ArgfsTer3(p.Q1179Rfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9894857:9894857(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.953delC |
| AA Mutation |
p.Pro318LeufsTer143(p.P318Lfs*143) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SHROOM2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9898262:9898262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777124643
|
| CDS Mutation |
c.2863C>T |
| AA Mutation |
p.Arg955Trp(p.R955W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9944653:9944653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4324G>A |
| AA Mutation |
p.Glu1442Lys(p.E1442K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9896247:9896247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2339C>A |
| AA Mutation |
p.Pro780His(p.P780H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9895301:9895301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1393A>C |
| AA Mutation |
p.Ser465Arg(p.S465R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9939296:9939296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4241A>G |
| AA Mutation |
p.Asp1414Gly(p.D1414G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9894526:9894526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764456682
|
| CDS Mutation |
c.618C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9873672:9873672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374833426
|
| CDS Mutation |
c.186C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9894628:9894628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.720C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9937518:9937518(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3975delG |
| AA Mutation |
p.Lys1326ArgfsTer13(p.K1326Rfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000380913 |
| Start |
9932871:9932871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3587+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|