| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361413 |
| Start |
6623565:6623565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.832G>T |
| AA Mutation |
p.Glu278Ter(p.E278*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000361413 |
| Start |
6628547:6628548(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.287_288insGTATTTTAT |
| AA Mutation |
p.Arg96_Leu97insTyrPheIle(p.R96_L97insYFI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIAA0753
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361413 |
| Start |
6622920:6622920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1066G>A |
| AA Mutation |
p.Val356Ile(p.V356I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361413 |
| Start |
6612023:6612023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1441G>T |
| AA Mutation |
p.Asp481Tyr(p.D481Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361413 |
| Start |
6620817:6620817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199555049
|
| CDS Mutation |
c.1286G>A |
| AA Mutation |
p.Arg429Gln(p.R429Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000361413 |
| Start |
6628118:6628118(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.717delA |
| AA Mutation |
p.Asp240IlefsTer3(p.D240Ifs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|