| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251566 |
| Start |
68951223:68951223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs570452785
|
| CDS Mutation |
c.538C>T |
| AA Mutation |
p.Arg180Ter(p.R180*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251566 |
| Start |
68931215:68931216(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1023dupA |
| AA Mutation |
p.Pro342ThrfsTer12(p.P342Tfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UGT2A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251566 |
| Start |
68951130:68951130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.631A>G |
| AA Mutation |
p.Asn211Asp(p.N211D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251566 |
| Start |
68929967:68929967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770995000
|
| CDS Mutation |
c.1430C>T |
| AA Mutation |
p.Ala477Val(p.A477V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251566 |
| Start |
68929915:68929915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1482C>A |
| AA Mutation |
p.Phe494Leu(p.F494L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251566 |
| Start |
68951427:68951427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769667800
|
| CDS Mutation |
c.334G>T |
| AA Mutation |
p.Asp112Tyr(p.D112Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|