| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99318121:99318121(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.184delC |
| AA Mutation |
p.Leu62PhefsTer3(p.L62Ffs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99321313:99321313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.18+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADH1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99316271:99316271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.291G>T |
| AA Mutation |
p.Gln97His(p.Q97H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99318848:99318848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.57G>T |
| AA Mutation |
p.Lys19Asn(p.K19N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99311609:99311609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.876C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305046 |
| Start |
99313842:99313842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.807C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|