| Mutation ID |
7 |
| Mutation Consequence |
stop_gained;frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147254974:147254975(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345_346insTTTTGATC |
| AA Mutation |
p.Arg116PhefsTer2(p.R116Ffs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147252621:147252621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.128-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147280193:147280193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587622399
|
| CDS Mutation |
c.1705+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHD1L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147294474:147294474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2572C>A |
| AA Mutation |
p.Leu858Ile(p.L858I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|