| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294172 |
| Start |
62795923:62795924(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1481_1482delCT |
| AA Mutation |
p.Ser494CysfsTer29(p.S494Cfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000294172 |
| Start |
62795945:62795945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1462-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NXF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294172 |
| Start |
62803865:62803865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779393008
|
| CDS Mutation |
c.142C>T |
| AA Mutation |
p.Arg48Trp(p.R48W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294172 |
| Start |
62798561:62798561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1031G>A |
| AA Mutation |
p.Arg344Gln(p.R344Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000294172 |
| Start |
62802261:62802261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.370-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|