| Mutation ID |
28 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359246 |
| Start |
93662982:93662982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1774C>T |
| AA Mutation |
p.Arg592Ter(p.R592*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359246 |
| Start |
93676611:93676612(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2858dupA |
| AA Mutation |
p.Ser954GlufsTer9(p.S954Efs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PHF2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359246 |
| Start |
93677654:93677654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777779032
|
| CDS Mutation |
c.3269G>A |
| AA Mutation |
p.Arg1090Gln(p.R1090Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359246 |
| Start |
93674998:93674998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2698G>T |
| AA Mutation |
p.Asp900Tyr(p.D900Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359246 |
| Start |
93673798:93673798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201272131
|
| CDS Mutation |
c.2562C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|