| Mutation ID |
36 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25574859:25574859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1712+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25530560:25530560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.322-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP8A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25579933:25579933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs535509828
|
| CDS Mutation |
c.1993G>A |
| AA Mutation |
p.Glu665Lys(p.E665K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25769224:25769224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200573494
|
| CDS Mutation |
c.2563G>A |
| AA Mutation |
p.Ala855Thr(p.A855T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25571633:25571633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1603G>A |
| AA Mutation |
p.Ala535Thr(p.A535T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25532307:25532307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.456G>T |
| AA Mutation |
p.Lys152Asn(p.K152N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25555033:25555033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1228G>A |
| AA Mutation |
p.Ala410Thr(p.A410T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25581828:25581828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2017C>A |
| AA Mutation |
p.Leu673Ile(p.L673I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381655 |
| Start |
25961627:25961627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3236C>A |
| AA Mutation |
p.Pro1079His(p.P1079H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|