| Mutation ID |
55 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53536665:53536666(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12139_12140insTC |
| AA Mutation |
p.Tyr4047PhefsTer3(p.Y4047Ffs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
56 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000262854 |
| Start |
53536152:53536154(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12524_12526delGCA |
| AA Mutation |
p.Ser4175del(p.S4175del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HUWE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53538445:53538445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11888G>A |
| AA Mutation |
p.Arg3963His(p.R3963H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53550756:53550756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782521336
|
| CDS Mutation |
c.9398G>A |
| AA Mutation |
p.Arg3133His(p.R3133H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53560219:53560219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7705C>T |
| AA Mutation |
p.Arg2569Cys(p.R2569C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53569665:53569665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6475G>A |
| AA Mutation |
p.Ala2159Thr(p.A2159T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53583719:53583719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782600084
|
| CDS Mutation |
c.5359C>T |
| AA Mutation |
p.Arg1787Trp(p.R1787W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53627867:53627867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1255C>A |
| AA Mutation |
p.Leu419Ile(p.L419I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53589587:53589587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4421C>G |
| AA Mutation |
p.Ala1474Gly(p.A1474G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53534049:53534049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12980G>A |
| AA Mutation |
p.Arg4327Gln(p.R4327Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53547956:53547956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10353G>T |
| AA Mutation |
p.Glu3451Asp(p.E3451D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53617127:53617127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1800C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262854 |
| Start |
53565065:53565065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6880+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|