| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112435170:112435170(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3063delA |
| AA Mutation |
p.Lys1021AsnfsTer18(p.K1021Nfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112435215:112435215(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3106delG |
| AA Mutation |
p.Asp1036ThrfsTer3(p.D1036Tfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALPK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112432417:112432417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2870C>A |
| AA Mutation |
p.Ser957Tyr(p.S957Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112430768:112430768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1221A>C |
| AA Mutation |
p.Glu407Asp(p.E407D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000177648 |
| Start |
112432545:112432545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2998G>A |
| AA Mutation |
p.Gly1000Arg(p.G1000R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000177648 |
| Start |
112431849:112431849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774768880
|
| CDS Mutation |
c.2302G>T |
| AA Mutation |
p.Glu768Ter(p.E768*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|