| Mutation ID |
73 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32244184:32244184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6828+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
74 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32239882:32239882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6687+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FRY
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32186380:32186380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3440G>A |
| AA Mutation |
p.Arg1147Lys(p.R1147K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32209693:32209693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4384C>A |
| AA Mutation |
p.Leu1462Ile(p.L1462I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32231297:32231297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5524T>C |
| AA Mutation |
p.Ser1842Pro(p.S1842P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32276554:32276554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8377A>G |
| AA Mutation |
p.Thr2793Ala(p.T2793A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32147865:32147865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1310T>G |
| AA Mutation |
p.Leu437Arg(p.L437R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32228621:32228621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5372A>T |
| AA Mutation |
p.Lys1791Met(p.K1791M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32171056:32171056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1937A>C |
| AA Mutation |
p.Asn646Thr(p.N646T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32234669:32234669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5623C>T |
| AA Mutation |
p.Arg1875Trp(p.R1875W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32117368:32117368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.359G>A |
| AA Mutation |
p.Cys120Tyr(p.C120Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32131795:32131795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.840G>T |
| AA Mutation |
p.Lys280Asn(p.K280N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32186367:32186367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771312453
|
| CDS Mutation |
c.3427C>T |
| AA Mutation |
p.Arg1143Cys(p.R1143C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32237488:32237488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781683553
|
| CDS Mutation |
c.5920G>A |
| AA Mutation |
p.Glu1974Lys(p.E1974K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32239823:32239823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776871199
|
| CDS Mutation |
c.6629G>A |
| AA Mutation |
p.Arg2210Gln(p.R2210Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32202377:32202377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3868G>A |
| AA Mutation |
p.Val1290Ile(p.V1290I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32117460:32117460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.451A>G |
| AA Mutation |
p.Asn151Asp(p.N151D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32124329:32124329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377132504
|
| CDS Mutation |
c.508G>A |
| AA Mutation |
p.Ala170Thr(p.A170T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32131780:32131780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.825A>T |
| AA Mutation |
p.Lys275Asn(p.K275N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32234694:32234694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5648C>T |
| AA Mutation |
p.Ala1883Val(p.A1883V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32239787:32239787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779340624
|
| CDS Mutation |
c.6593C>T |
| AA Mutation |
p.Thr2198Met(p.T2198M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32224305:32224305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368924097
|
| CDS Mutation |
c.4836G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32218782:32218782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4716C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32274886:32274886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8181T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32178997:32178997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146037501
|
| CDS Mutation |
c.2835G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32251901:32251901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7194A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000542859 |
| Start |
32131712:32131712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757G>T |
| AA Mutation |
p.Glu253Ter(p.E253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000542859 |
| Start |
32147351:32147351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1249C>T |
| AA Mutation |
p.Arg417Ter(p.R417*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000542859 |
| Start |
32124682:32124682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.635+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|