| Mutation ID |
92 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57204409:57204409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10952-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
93 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57201154:57201154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10345+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LRP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57191452:57191452(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7369C>T |
| AA Mutation |
p.Arg2457Cys(p.R2457C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57162462:57162462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374731359
|
| CDS Mutation |
c.2348G>A |
| AA Mutation |
p.Arg783His(p.R783H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57206601:57206601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11719G>T |
| AA Mutation |
p.Val3907Phe(p.V3907F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57176058:57176058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3943G>T |
| AA Mutation |
p.Asp1315Tyr(p.D1315Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57161111:57161111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2198G>A |
| AA Mutation |
p.Arg733Gln(p.R733Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57178502:57178502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4505C>A |
| AA Mutation |
p.Ala1502Asp(p.A1502D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57156258:57156258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1392C>G |
| AA Mutation |
p.Ile464Met(p.I464M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57190959:57190959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7186G>A |
| AA Mutation |
p.Ala2396Thr(p.A2396T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57192863:57192863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779968122
|
| CDS Mutation |
c.7448G>A |
| AA Mutation |
p.Arg2483Gln(p.R2483Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57191454:57191454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7371C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57154557:57154557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147797119
|
| CDS Mutation |
c.1083C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57195725:57195725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745849478
|
| CDS Mutation |
c.8505C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243077 |
| Start |
57159850:57159850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1824C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|