| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85730617:85730618(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7196dupC |
| AA Mutation |
p.Thr2400AsnfsTer3(p.T2400Nfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85579990:85579991(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1922_1923insAATCTTGTC |
| AA Mutation |
p.His641delinsGlnIleLeuSer(p.H641delinsQILS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AKAP13
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85585713:85585713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4051G>A |
| AA Mutation |
p.Val1351Met(p.V1351M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85726424:85726424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6760C>A |
| AA Mutation |
p.Leu2254Ile(p.L2254I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85719106:85719106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778424032
|
| CDS Mutation |
c.6032G>A |
| AA Mutation |
p.Arg2011His(p.R2011H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85580511:85580511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2443A>T |
| AA Mutation |
p.Thr815Ser(p.T815S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85579200:85579200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1132A>G |
| AA Mutation |
p.Arg378Gly(p.R378G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85693309:85693309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5322G>T |
| AA Mutation |
p.Glu1774Asp(p.E1774D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394518 |
| Start |
85580552:85580552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2484A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394518 |
| Start |
85727111:85727111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6868G>T |
| AA Mutation |
p.Glu2290Ter(p.E2290*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|