| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000333987 |
| Start |
36950465:36950465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747404561
|
| CDS Mutation |
c.1312C>T |
| AA Mutation |
p.Arg438Ter(p.R438*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000617745 |
| Start |
36997303:36997303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1612A>T |
| AA Mutation |
p.Lys538Ter(p.K538*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZNF568
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36949606:36949606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.453A>T |
| AA Mutation |
p.Lys151Asn(p.K151N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36950466:36950466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1313G>A |
| AA Mutation |
p.Arg438Gln(p.R438Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36949629:36949629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765837806
|
| CDS Mutation |
c.476C>T |
| AA Mutation |
p.Ala159Val(p.A159V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36936819:36936819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.209G>T |
| AA Mutation |
p.Arg70Ile(p.R70I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36949602:36949602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.449A>G |
| AA Mutation |
p.Glu150Gly(p.E150G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36950566:36950566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1413G>T |
| AA Mutation |
p.Glu471Asp(p.E471D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36950854:36950854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1701C>A |
| AA Mutation |
p.Phe567Leu(p.F567L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617745 |
| Start |
36996851:36996851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1160G>T |
| AA Mutation |
p.Arg387Met(p.R387M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36925229:36925229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.106G>A |
| AA Mutation |
p.Glu36Lys(p.E36K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333987 |
| Start |
36950650:36950650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1497G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|