| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000428331 |
| Start |
130937465:130937465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.360+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000428331 |
| Start |
130894771:130894771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2T>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP2C1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428331 |
| Start |
130975368:130975368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768289092
|
| CDS Mutation |
c.1450G>A |
| AA Mutation |
p.Glu484Lys(p.E484K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428331 |
| Start |
130997713:130997713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2351T>C |
| AA Mutation |
p.Ile784Thr(p.I784T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428331 |
| Start |
130996053:130996053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2068G>A |
| AA Mutation |
p.Glu690Lys(p.E690K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|