| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200604760:200604760(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.738delC |
| AA Mutation |
p.Val247Ter(p.V247*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000374700 |
| Start |
200621201:200621203(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs770755070
|
| CDS Mutation |
c.1958_1960delTCT |
| AA Mutation |
p.Phe653del(p.F653del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AOX1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200638231:200638231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749776412
|
| CDS Mutation |
c.2497C>T |
| AA Mutation |
p.Arg833Cys(p.R833C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200659273:200659273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3280C>A |
| AA Mutation |
p.Leu1094Ile(p.L1094I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200668673:200668673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3668C>A |
| AA Mutation |
p.Ser1223Tyr(p.S1223Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200651109:200651109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2983A>G |
| AA Mutation |
p.Lys995Glu(p.K995E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200612650:200612650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1305G>T |
| AA Mutation |
p.Glu435Asp(p.E435D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374700 |
| Start |
200650977:200650977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140878478
|
| CDS Mutation |
c.2851C>T |
| AA Mutation |
p.Arg951Ter(p.R951*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|