| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000374897 |
| Start |
32832625:32832625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1143+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000374897 |
| Start |
32830753:32830755(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1324_1326delAAG |
| AA Mutation |
p.Lys442del(p.K442del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TAP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374897 |
| Start |
32830640:32830640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1439G>A |
| AA Mutation |
p.Arg480His(p.R480H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374897 |
| Start |
32830756:32830756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1323G>T |
| AA Mutation |
p.Glu441Asp(p.E441D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374897 |
| Start |
32837902:32837909(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.325_332delGCGGGGCT |
| AA Mutation |
p.Ala109GlnfsTer55(p.A109Qfs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374897 |
| Start |
32838011:32838011(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.223delC |
| AA Mutation |
p.Leu75Ter(p.L75*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|