| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38959796:38959796(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2034delA |
| AA Mutation |
p.Lys678AsnfsTer14(p.K678Nfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38945642:38945643(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4481_4482insCCCAGAAT |
| AA Mutation |
p.Ser1495ProfsTer13(p.S1495Pfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RICTOR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38949800:38949800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4048G>T |
| AA Mutation |
p.Ala1350Ser(p.A1350S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38950624:38950624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370517295
|
| CDS Mutation |
c.3224G>A |
| AA Mutation |
p.Arg1075Gln(p.R1075Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38981903:38981903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.717G>T |
| AA Mutation |
p.Lys239Asn(p.K239N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38950459:38950459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201384226
|
| CDS Mutation |
c.3389G>A |
| AA Mutation |
p.Arg1130Gln(p.R1130Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38955611:38955611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2593C>T |
| AA Mutation |
p.Arg865Cys(p.R865C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38960525:38960525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376491170
|
| CDS Mutation |
c.1724G>A |
| AA Mutation |
p.Arg575Gln(p.R575Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38962904:38962904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs547757338
|
| CDS Mutation |
c.1538G>A |
| AA Mutation |
p.Arg513Gln(p.R513Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357387 |
| Start |
38947426:38947426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4152A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357387 |
| Start |
38953541:38953541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2710G>T |
| AA Mutation |
p.Glu904Ter(p.E904*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|