| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46056565:46056565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3179+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46040615:46040615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142641765
|
| CDS Mutation |
c.923+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC12A5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46045112:46045112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771520319
|
| CDS Mutation |
c.1610C>T |
| AA Mutation |
p.Ser537Leu(p.S537L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46043242:46043242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200798560
|
| CDS Mutation |
c.1225G>A |
| AA Mutation |
p.Asp409Asn(p.D409N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46037374:46037374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.670G>A |
| AA Mutation |
p.Glu224Lys(p.E224K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46043713:46043713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769231047
|
| CDS Mutation |
c.1387G>A |
| AA Mutation |
p.Ala463Thr(p.A463T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46036779:46036779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376632862
|
| CDS Mutation |
c.534G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000454036 |
| Start |
46043875:46043875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1406-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|