| Mutation ID |
92 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57633388:57633389(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.845dupT |
| AA Mutation |
p.Ser283GlnfsTer6(p.S283Qfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
93 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634873:57634874(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2327_2328insTGATG |
| AA Mutation |
p.Glu776AspfsTer7(p.E776Dfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCDH17
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57725028:57725028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3214T>G |
| AA Mutation |
p.Leu1072Val(p.L1072V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57724794:57724794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2980G>A |
| AA Mutation |
p.Gly994Arg(p.G994R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634380:57634380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1834G>A |
| AA Mutation |
p.Ala612Thr(p.A612T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634899:57634899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2353G>A |
| AA Mutation |
p.Val785Met(p.V785M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57633457:57633457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200448406
|
| CDS Mutation |
c.911G>A |
| AA Mutation |
p.Arg304His(p.R304H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57666774:57666774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2738C>A |
| AA Mutation |
p.Ser913Tyr(p.S913Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57725208:57725208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3394T>A |
| AA Mutation |
p.Ser1132Thr(p.S1132T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57633522:57633522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.976C>A |
| AA Mutation |
p.Leu326Met(p.L326M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57633063:57633063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.517C>T |
| AA Mutation |
p.Arg173Cys(p.R173C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634881:57634881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2335G>T |
| AA Mutation |
p.Ala779Ser(p.A779S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57635035:57635035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2489C>T |
| AA Mutation |
p.Ala830Val(p.A830V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634940:57634940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2394C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57633509:57633509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.963G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57725028:57725028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3214T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634391:57634391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1845C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57634151:57634151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143619660
|
| CDS Mutation |
c.1605C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57725141:57725141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3327G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57633344:57633344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.798C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377918 |
| Start |
57725111:57725111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3297C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|