| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37480787:37480787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs1049773
|
| CDS Mutation |
c.477C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000398960 |
| Start |
37505352:37505352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs724159953
|
| CDS Mutation |
c.1309C>T |
| AA Mutation |
p.Arg437Ter(p.R437*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DYRK1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37480686:37480686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.376G>A |
| AA Mutation |
p.Asp126Asn(p.D126N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37490202:37490202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.692G>A |
| AA Mutation |
p.Arg231Gln(p.R231Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37505355:37505355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766592662
|
| CDS Mutation |
c.1312C>T |
| AA Mutation |
p.Arg438Cys(p.R438C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37472804:37472804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780254690
|
| CDS Mutation |
c.131G>A |
| AA Mutation |
p.Arg44His(p.R44H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37512204:37512204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1965G>T |
| AA Mutation |
p.Met655Ile(p.M655I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398960 |
| Start |
37480663:37480663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.353G>T |
| AA Mutation |
p.Arg118Ile(p.R118I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|