| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000395035 |
| Start |
39225909:39225909(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.220delA |
| AA Mutation |
p.Arg74GlyfsTer5(p.R74Gfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000395035 |
| Start |
39213398:39213398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.363+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CDKL4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395035 |
| Start |
39225876:39225876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.253C>A |
| AA Mutation |
p.His85Asn(p.H85N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000395035 |
| Start |
39190458:39190458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771548328
|
| CDS Mutation |
c.499C>T |
| AA Mutation |
p.Arg167Ter(p.R167*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|