| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68433664:68433664(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3829delG |
| AA Mutation |
p.Ala1277ProfsTer162(p.A1277Pfs*162) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68423650:68423651(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3193dupG |
| AA Mutation |
p.Asp1065GlyfsTer73(p.D1065Gfs*73) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LRP5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68357801:68357801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121908671
|
| CDS Mutation |
c.640G>A |
| AA Mutation |
p.Ala214Thr(p.A214T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68413880:68413880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760734426
|
| CDS Mutation |
c.2695C>T |
| AA Mutation |
p.Arg899Cys(p.R899C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68429592:68429592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139847357
|
| CDS Mutation |
c.3655C>T |
| AA Mutation |
p.Arg1219Cys(p.R1219C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68386548:68386548(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149682423
|
| CDS Mutation |
c.1248C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294304 |
| Start |
68433624:68433624(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3787delC |
| AA Mutation |
p.Gln1263SerfsTer176(p.Q1263Sfs*176) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|