| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000409085 |
| Start |
69496072:69496072(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2278delA |
| AA Mutation |
p.Arg760GlyfsTer14(p.R760Gfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000409085 |
| Start |
69642877:69642877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.163+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AAK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409085 |
| Start |
69505662:69505662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766166655
|
| CDS Mutation |
c.2176G>A |
| AA Mutation |
p.Glu726Lys(p.E726K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000409085 |
| Start |
69542634:69542634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.423C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000409085 |
| Start |
69532040:69532040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.656+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|