| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000603300 |
| Start |
45106123:45106123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2148+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000603300 |
| Start |
45112719:45112719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.161-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DUOX2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000603300 |
| Start |
45109895:45109895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs119472029
|
| CDS Mutation |
c.1126C>T |
| AA Mutation |
p.Arg376Trp(p.R376W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000603300 |
| Start |
45103974:45103974(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2640C>A |
| AA Mutation |
p.Phe880Leu(p.F880L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000603300 |
| Start |
45108815:45108815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1372G>C |
| AA Mutation |
p.Asp458His(p.D458H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|