| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000316099 |
| Start |
44414509:44414510(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496_497delAC |
| AA Mutation |
p.Thr166LeufsTer23(p.T166Lfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000316099 |
| Start |
44429521:44429521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1283-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HNF4A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316099 |
| Start |
44428448:44428448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757897768
|
| CDS Mutation |
c.1243G>A |
| AA Mutation |
p.Gly415Arg(p.G415R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316099 |
| Start |
44406090:44406090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.148G>A |
| AA Mutation |
p.Ala50Thr(p.A50T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316099 |
| Start |
44414609:44414609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.595G>A |
| AA Mutation |
p.Val199Ile(p.V199I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316099 |
| Start |
44407409:44407409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319G>T |
| AA Mutation |
p.Asp107Tyr(p.D107Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|