| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21297402:21297402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1075+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000307378 |
| Start |
21304518:21304556(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.460_498delAAATCATTAATGTGGGTGTACGTCCTAGTAGGCAATATT |
| AA Mutation |
p.Lys154_Ile166del(p.K154_I166del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLCO1A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21269704:21269704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1857C>G |
| AA Mutation |
p.Ile619Met(p.I619M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21293958:21293958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141238012
|
| CDS Mutation |
c.1424C>T |
| AA Mutation |
p.Thr475Met(p.T475M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21295625:21295625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1243G>T |
| AA Mutation |
p.Val415Phe(p.V415F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|