| Mutation ID |
54 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68080448:68080449(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1654dupA |
| AA Mutation |
p.Ser552LysfsTer6(p.S552Kfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68120920:68120920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3596-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PREX2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68038241:68038241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.788G>A |
| AA Mutation |
p.Arg263Gln(p.R263Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68069108:68069108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1415G>T |
| AA Mutation |
p.Arg472Ile(p.R472I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68134143:68134143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375506738
|
| CDS Mutation |
c.3851C>T |
| AA Mutation |
p.Ala1284Val(p.A1284V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68157423:68157423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4333A>G |
| AA Mutation |
p.Asn1445Asp(p.N1445D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68060684:68060684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1244T>A |
| AA Mutation |
p.Phe415Tyr(p.F415Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68093677:68093677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2323C>G |
| AA Mutation |
p.Pro775Ala(p.P775A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68115790:68115790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200550325
|
| CDS Mutation |
c.3184C>T |
| AA Mutation |
p.Arg1062Cys(p.R1062C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68055853:68055853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1117G>A |
| AA Mutation |
p.Asp373Asn(p.D373N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68027278:68027278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.498A>T |
| AA Mutation |
p.Leu166Phe(p.L166F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68030551:68030551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.598G>A |
| AA Mutation |
p.Ala200Thr(p.A200T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68060680:68060680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201372935
|
| CDS Mutation |
c.1240G>A |
| AA Mutation |
p.Glu414Lys(p.E414K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68099824:68099824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2696G>T |
| AA Mutation |
p.Arg899Ile(p.R899I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288368 |
| Start |
68224582:68224582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756670148
|
| CDS Mutation |
c.4731G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|