| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000608999 |
| Start |
202449038:202449039(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1717_1718insGAAGG |
| AA Mutation |
p.Asn573ArgfsTer12(p.N573Rfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000608999 |
| Start |
202431521:202431541(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1048_1068delATGGAGGAAGAAAATAAAGAA |
| AA Mutation |
p.Met350_Glu356del(p.M350_E356del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPP1R12B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608999 |
| Start |
202416914:202416914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.419C>T |
| AA Mutation |
p.Ala140Val(p.A140V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608999 |
| Start |
202495447:202495447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2300C>A |
| AA Mutation |
p.Thr767Lys(p.T767K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608999 |
| Start |
202495621:202495621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs3817221
|
| CDS Mutation |
c.2387G>A |
| AA Mutation |
p.Arg796Gln(p.R796Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608999 |
| Start |
202495587:202495587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2353T>G |
| AA Mutation |
p.Leu785Val(p.L785V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000608999 |
| Start |
202428916:202428916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.908A>G |
| AA Mutation |
p.Lys303Arg(p.K303R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000608999 |
| Start |
202440712:202440712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1465G>T |
| AA Mutation |
p.Glu489Ter(p.E489*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|