| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200043827:200043828(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.257_258delGT |
| AA Mutation |
p.Cys86SerfsTer6(p.C86Sfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200045446:200045446(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.330delT |
| AA Mutation |
p.Phe110LeufsTer14(p.F110Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NR5A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200120866:200120866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1289A>G |
| AA Mutation |
p.His430Arg(p.H430R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200111256:200111256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775644685
|
| CDS Mutation |
c.1165G>A |
| AA Mutation |
p.Asp389Asn(p.D389N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200174152:200174152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1568A>C |
| AA Mutation |
p.Asn523Thr(p.N523T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|