| Mutation ID |
49 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000253332 |
| Start |
151351642:151351642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3251C>A |
| AA Mutation |
p.Ser1084Ter(p.S1084*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
50 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000253332 |
| Start |
151350591:151350591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2200G>T |
| AA Mutation |
p.Glu734Ter(p.E734*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AKAP12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151353712:151353712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5321C>T |
| AA Mutation |
p.Ser1774Phe(p.S1774F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151351262:151351262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377313534
|
| CDS Mutation |
c.2871C>A |
| AA Mutation |
p.Asn957Lys(p.N957K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151350214:151350214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1823C>A |
| AA Mutation |
p.Thr608Asn(p.T608N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151348743:151348743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.352A>G |
| AA Mutation |
p.Arg118Gly(p.R118G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151351339:151351339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2948G>T |
| AA Mutation |
p.Gly983Val(p.G983V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151351533:151351533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3142G>A |
| AA Mutation |
p.Glu1048Lys(p.E1048K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151352235:151352235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368517285
|
| CDS Mutation |
c.3844G>A |
| AA Mutation |
p.Glu1282Lys(p.E1282K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151349160:151349160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775211883
|
| CDS Mutation |
c.769G>A |
| AA Mutation |
p.Glu257Lys(p.E257K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151352617:151352617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4226A>C |
| AA Mutation |
p.Lys1409Thr(p.K1409T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151352387:151352387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142473808
|
| CDS Mutation |
c.3996C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151348931:151348931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.540C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000253332 |
| Start |
151350195:151350195(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1810delA |
| AA Mutation |
p.Arg604GlufsTer14(p.R604Efs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|