| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000235372 |
| Start |
13773082:13773083(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.522dupA |
| AA Mutation |
p.Ser175IlefsTer5(p.S175Ifs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000235372 |
| Start |
13778627:13778629(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs754175809
|
| CDS Mutation |
c.846_848delAGA |
| AA Mutation |
p.Glu282del(p.E282del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRDM2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000235372 |
| Start |
13742072:13742072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.299G>A |
| AA Mutation |
p.Arg100Gln(p.R100Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000235372 |
| Start |
13781107:13781107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3312A>C |
| AA Mutation |
p.Glu1104Asp(p.E1104D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000235372 |
| Start |
13781633:13781633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760416218
|
| CDS Mutation |
c.3838A>G |
| AA Mutation |
p.Ile1280Val(p.I1280V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000235372 |
| Start |
13779204:13779204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1409C>A |
| AA Mutation |
p.Ser470Tyr(p.S470Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000235372 |
| Start |
13782118:13782118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4323G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000235372 |
| Start |
13816449:13816449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5059C>T |
| AA Mutation |
p.Arg1687Ter(p.R1687*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|