| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162272361:162272362(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2480_2481insCAATACCTTAT |
| AA Mutation |
p.Glu827AspfsTer5(p.E827Dfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162273945:162273945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2305-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IFIH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162277652:162277652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1807C>T |
| AA Mutation |
p.His603Tyr(p.H603Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162272377:162272377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376048533
|
| CDS Mutation |
c.2465G>A |
| AA Mutation |
p.Arg822Gln(p.R822Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162281439:162281440(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1412_1413delTC |
| AA Mutation |
p.Leu471GlnfsTer32(p.L471Qfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|