| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302509 |
| Start |
20344044:20344044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748219272
|
| CDS Mutation |
c.1311C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000302509 |
| Start |
20346210:20346210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1098C>A |
| AA Mutation |
p.Cys366Ter(p.C366*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UMOD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302509 |
| Start |
20346245:20346245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767780614
|
| CDS Mutation |
c.1063G>A |
| AA Mutation |
p.Asp355Asn(p.D355N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302509 |
| Start |
20341175:20341175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs188397613
|
| CDS Mutation |
c.1493G>A |
| AA Mutation |
p.Arg498Gln(p.R498Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000302509 |
| Start |
20337455:20337455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1578-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|