| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000532090 |
| Start |
65778054:65778054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2439C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000532090 |
| Start |
65777986:65777986(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2507delC |
| AA Mutation |
p.Pro836ArgfsTer65(p.P836Rfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AP5B1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000532090 |
| Start |
65779180:65779180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760963217
|
| CDS Mutation |
c.1313G>A |
| AA Mutation |
p.Arg438Gln(p.R438Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000532090 |
| Start |
65778307:65778307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2186A>G |
| AA Mutation |
p.Gln729Arg(p.Q729R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|