| Mutation ID |
29 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261349 |
| Start |
12244482:12244482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.229C>T |
| AA Mutation |
p.Arg77Ter(p.R77*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12165235:12165236(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1605_1606insAGAAAGC |
| AA Mutation |
p.Phe536ArgfsTer10(p.F536Rfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LRP6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12126711:12126711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4292C>A |
| AA Mutation |
p.Ser1431Tyr(p.S1431Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12131859:12131859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3932C>T |
| AA Mutation |
p.Ala1311Val(p.A1311V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12138486:12138486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3446G>A |
| AA Mutation |
p.Gly1149Glu(p.G1149E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12158979:12158979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767098954
|
| CDS Mutation |
c.2641G>A |
| AA Mutation |
p.Val881Ile(p.V881I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12164301:12164301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376188127
|
| CDS Mutation |
c.2024G>A |
| AA Mutation |
p.Arg675Gln(p.R675Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12164388:12164388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1937C>A |
| AA Mutation |
p.Ser646Tyr(p.S646Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12203307:12203307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.543T>G |
| AA Mutation |
p.Ile181Met(p.I181M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12132053:12132053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3738T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|