| Mutation ID |
32 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196217006:196217006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4494+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196271280:196271281(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3247_3248insCAT |
| AA Mutation |
p.Asp1083delinsAlaTyr(p.D1083delinsAY) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HECW2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196278614:196278614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3049C>T |
| AA Mutation |
p.Arg1017Trp(p.R1017W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196433383:196433383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775414332
|
| CDS Mutation |
c.41G>A |
| AA Mutation |
p.Arg14His(p.R14H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196318891:196318891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1999C>T |
| AA Mutation |
p.Arg667Trp(p.R667W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196215906:196215906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4566A>C |
| AA Mutation |
p.Arg1522Ser(p.R1522S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196222272:196222272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4085A>G |
| AA Mutation |
p.Asp1362Gly(p.D1362G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196271227:196271227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3301C>T |
| AA Mutation |
p.Arg1101Cys(p.R1101C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196319823:196319823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1067A>G |
| AA Mutation |
p.Asp356Gly(p.D356G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196308033:196308033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2487A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196318970:196318970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370830289
|
| CDS Mutation |
c.1920C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196242155:196242155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146564746
|
| CDS Mutation |
c.3579C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260983 |
| Start |
196228205:196228205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3814G>T |
| AA Mutation |
p.Glu1272Ter(p.E1272*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000260983 |
| Start |
196343656:196343656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.400+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|