| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000441222 |
| Start |
52631062:52631062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.117+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000441222 |
| Start |
52626227:52626228(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.351_352insGTTTATTATTTT |
| AA Mutation |
p.Met117_Gln118insValTyrTyrPhe(p.M117_Q118insVYYF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP46
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441222 |
| Start |
52598696:52598696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.931C>T |
| AA Mutation |
p.Arg311Cys(p.R311C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441222 |
| Start |
52601898:52601898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.879C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441222 |
| Start |
52601979:52601979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.798A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|