| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73766088:73766088(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1270delC |
| AA Mutation |
p.Gln424LysfsTer20(p.Q424Kfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73818517:73818518(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4041_4042insCTCAGGAA |
| AA Mutation |
p.Asn1348LeufsTer7(p.N1348Lfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CD109
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73771443:73771443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1689G>T |
| AA Mutation |
p.Trp563Cys(p.W563C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73768105:73768105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1548G>A |
| AA Mutation |
p.Met516Ile(p.M516I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73787388:73787388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2492C>A |
| AA Mutation |
p.Pro831His(p.P831H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73812241:73812241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750803840
|
| CDS Mutation |
c.3739G>A |
| AA Mutation |
p.Ala1247Thr(p.A1247T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73730450:73730450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.383G>T |
| AA Mutation |
p.Arg128Ile(p.R128I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73766048:73766048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1226A>C |
| AA Mutation |
p.Asn409Thr(p.N409T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000287097 |
| Start |
73818499:73818499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs563120651
|
| CDS Mutation |
c.4023A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000287097 |
| Start |
73806959:73806959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3076G>T |
| AA Mutation |
p.Glu1026Ter(p.E1026*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000287097 |
| Start |
73783723:73783723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2122G>T |
| AA Mutation |
p.Glu708Ter(p.E708*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|