| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111913637:111913638(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1654_1655insAT |
| AA Mutation |
p.Pro552HisfsTer18(p.P552Hfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111939544:111939545(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2200_2201insTAACT |
| AA Mutation |
p.Ser734IlefsTer5(p.S734Ifs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PHLDB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111962165:111962165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748340744
|
| CDS Mutation |
c.2930G>A |
| AA Mutation |
p.Arg977His(p.R977H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111974427:111974427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3626C>A |
| AA Mutation |
p.Pro1209His(p.P1209H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111940542:111940542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2294T>G |
| AA Mutation |
p.Ile765Ser(p.I765S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393925 |
| Start |
111884959:111884959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148440828
|
| CDS Mutation |
c.882C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|