| Mutation ID |
32 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52068766:52068766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.228+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52038745:52038745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2257+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NID2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52005784:52005784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149021065
|
| CDS Mutation |
c.4070G>A |
| AA Mutation |
p.Arg1357Gln(p.R1357Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52053762:52053762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151032833
|
| CDS Mutation |
c.1246G>A |
| AA Mutation |
p.Glu416Lys(p.E416K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52042291:52042291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149213118
|
| CDS Mutation |
c.1639G>A |
| AA Mutation |
p.Val547Met(p.V547M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52015186:52015186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3118G>A |
| AA Mutation |
p.Val1040Met(p.V1040M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52054221:52054221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.868G>C |
| AA Mutation |
p.Ala290Pro(p.A290P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52038755:52038755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145229633
|
| CDS Mutation |
c.2249C>T |
| AA Mutation |
p.Pro750Leu(p.P750L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52015175:52015175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3129C>G |
| AA Mutation |
p.Cys1043Trp(p.C1043W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52005820:52005820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4034G>A |
| AA Mutation |
p.Ser1345Asn(p.S1345N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000216286 |
| Start |
52040650:52040650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2026+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|