| Mutation ID |
22 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56884206:56884206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1825+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56880128:56880128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1444-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC12A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56872441:56872441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.943A>G |
| AA Mutation |
p.Lys315Glu(p.K315E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56879087:56879087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775931992
|
| CDS Mutation |
c.1195C>T |
| AA Mutation |
p.Arg399Cys(p.R399C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56872658:56872659(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967_968delGA |
| AA Mutation |
p.Asp323HisfsTer9(p.D323Hfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|