| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000382100 |
| Start |
2646519:2646520(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1670_1671insATGGACTTTTT |
| AA Mutation |
p.Pro558TrpfsTer8(p.P558Wfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000382100 |
| Start |
2643960:2643960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774744705
|
| CDS Mutation |
c.1066+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VLDLR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382100 |
| Start |
2648774:2648774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2068G>T |
| AA Mutation |
p.Asp690Tyr(p.D690Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382100 |
| Start |
2643238:2643238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.527A>T |
| AA Mutation |
p.Gln176Leu(p.Q176L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382100 |
| Start |
2648223:2648223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35948251
|
| CDS Mutation |
c.1838G>A |
| AA Mutation |
p.Arg613His(p.R613H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000382100 |
| Start |
2651465:2651465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2302G>T |
| AA Mutation |
p.Glu768Ter(p.E768*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|