| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46347136:46347136(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46delC |
| AA Mutation |
p.Arg16GlyfsTer10(p.R16Gfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46347135:46347136(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs766639242
|
| CDS Mutation |
c.46dupC |
| AA Mutation |
p.Arg16ProfsTer7(p.R16Pfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPP5C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46383843:46383843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758489583
|
| CDS Mutation |
c.763G>A |
| AA Mutation |
p.Glu255Lys(p.E255K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46383435:46383435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.658C>G |
| AA Mutation |
p.Leu220Val(p.L220V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46353937:46353937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.311C>A |
| AA Mutation |
p.Ala104Asp(p.A104D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46387193:46387193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371076132
|
| CDS Mutation |
c.1005C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000012443 |
| Start |
46347136:46347136(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46delC |
| AA Mutation |
p.Arg16GlyfsTer10(p.R16Gfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|