| Mutation ID |
49 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61983584:61983585(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3013_3014insACATCCAG |
| AA Mutation |
p.Ser1005AsnfsTer24(p.S1005Nfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
50 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61676824:61676824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.270-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADGRL3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62070646:62070646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371830824
|
| CDS Mutation |
c.4148C>T |
| AA Mutation |
p.Pro1383Leu(p.P1383L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61733512:61733512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1153G>A |
| AA Mutation |
p.Val385Met(p.V385M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61909699:61909699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1823A>G |
| AA Mutation |
p.Asn608Ser(p.N608S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62070438:62070438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3940G>A |
| AA Mutation |
p.Glu1314Lys(p.E1314K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61912734:61912734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1885C>T |
| AA Mutation |
p.Arg629Cys(p.R629C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62070618:62070618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4120C>A |
| AA Mutation |
p.His1374Asn(p.H1374N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61946938:61946938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2240T>C |
| AA Mutation |
p.Leu747Pro(p.L747P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61983534:61983534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2963A>G |
| AA Mutation |
p.Tyr988Cys(p.Y988C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61813842:61813842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1229C>A |
| AA Mutation |
p.Ser410Tyr(p.S410Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61732842:61732842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.483C>A |
| AA Mutation |
p.Asp161Glu(p.D161E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61733149:61733149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.790G>A |
| AA Mutation |
p.Asp264Asn(p.D264N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61979703:61979703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2742G>T |
| AA Mutation |
p.Lys914Asn(p.K914N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62070272:62070272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3774G>T |
| AA Mutation |
p.Lys1258Asn(p.K1258N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62070665:62070665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372891189
|
| CDS Mutation |
c.4167C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61909592:61909592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1716T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61935939:61935939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2109A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62037784:62037784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3441T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000514591 |
| Start |
62044536:62044536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs182596389
|
| CDS Mutation |
c.3597G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000514591 |
| Start |
61998266:61998266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3191+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|