| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367265 |
| Start |
202733583:202733583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3727C>T |
| AA Mutation |
p.Arg1243Ter(p.R1243*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202762741:202762742(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.875_876insAAGGAAGGGAA |
| AA Mutation |
p.Lys293ArgfsTer51(p.K293Rfs*51) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KDM5B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202773164:202773164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750789070
|
| CDS Mutation |
c.530G>A |
| AA Mutation |
p.Arg177Gln(p.R177Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202736382:202736382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777499012
|
| CDS Mutation |
c.3095G>A |
| AA Mutation |
p.Arg1032His(p.R1032H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202758462:202758462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1126G>C |
| AA Mutation |
p.Asp376His(p.D376H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202729065:202729065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4606A>G |
| AA Mutation |
p.Thr1536Ala(p.T1536A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202762761:202762761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.856G>T |
| AA Mutation |
p.Asp286Tyr(p.D286Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367265 |
| Start |
202758463:202758463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1125G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367265 |
| Start |
202733469:202733469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3841C>T |
| AA Mutation |
p.Arg1281Ter(p.R1281*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|