| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33367264:33367264(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.828delT |
| AA Mutation |
p.Ala277GlnfsTer7(p.A277Qfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33332348:33332349(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1810_1814dupGGGTT |
| AA Mutation |
p.Phe605LeufsTer128(p.F605Lfs*128) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PHC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33367358:33367358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.734C>A |
| AA Mutation |
p.Pro245His(p.P245H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33375508:33375508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.32C>A |
| AA Mutation |
p.Ser11Tyr(p.S11Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33329016:33329016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2276C>T |
| AA Mutation |
p.Thr759Ile(p.T759I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33368615:33368615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.584T>C |
| AA Mutation |
p.Phe195Ser(p.F195S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257118 |
| Start |
33334129:33334129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772418882
|
| CDS Mutation |
c.1719C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|