| Mutation ID |
41 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000504830 |
| Start |
33648958:33648958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1343G>A |
| AA Mutation |
p.Trp448Ter(p.W448*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33881295:33881296(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.312dupT |
| AA Mutation |
p.Asn105Ter(p.N105*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33643410:33643410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1540G>A |
| AA Mutation |
p.Ala514Thr(p.A514T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33534852:33534852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4587G>T |
| AA Mutation |
p.Gln1529His(p.Q1529H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33614286:33614286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2479T>G |
| AA Mutation |
p.Phe827Val(p.F827V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33881300:33881300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.308T>G |
| AA Mutation |
p.Phe103Cys(p.F103C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33596055:33596055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377712954
|
| CDS Mutation |
c.2533C>T |
| AA Mutation |
p.Arg845Cys(p.R845C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33616055:33616055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2161C>T |
| AA Mutation |
p.Leu721Phe(p.L721F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33648868:33648868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1433G>T |
| AA Mutation |
p.Cys478Phe(p.C478F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33576395:33576395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3631C>T |
| AA Mutation |
p.Pro1211Ser(p.P1211S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33549231:33549231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149971505
|
| CDS Mutation |
c.4278G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33588698:33588698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2766G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33577089:33577089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2937C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000504830 |
| Start |
33661981:33661981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.975G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|