| Mutation ID |
31 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367051 |
| Start |
207614408:207614408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs55749440
|
| CDS Mutation |
c.5230C>T |
| AA Mutation |
p.Arg1744Ter(p.R1744*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000367051 |
| Start |
207563988:207563989(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2361_2362insTTTTCCCCTAGA |
| AA Mutation |
p.Ser787_Met788insPheSerProArg(p.S787_M788insFSPR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207496319:207496319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.52G>A |
| AA Mutation |
p.Gly18Ser(p.G18S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207580601:207580601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3854T>C |
| AA Mutation |
p.Val1285Ala(p.V1285A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207580322:207580322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3669C>A |
| AA Mutation |
p.Phe1223Leu(p.F1223L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207567922:207567922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs571845275
|
| CDS Mutation |
c.2701G>A |
| AA Mutation |
p.Asp901Asn(p.D901N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207616673:207616673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113247278
|
| CDS Mutation |
c.5410G>A |
| AA Mutation |
p.Asp1804Asn(p.D1804N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207611813:207611813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373764420
|
| CDS Mutation |
c.5082G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207618099:207618099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773564932
|
| CDS Mutation |
c.5568C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367051 |
| Start |
207506084:207506084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199647026
|
| CDS Mutation |
c.301+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|