| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378000 |
| Start |
16484701:16484702(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.322_323delCA |
| AA Mutation |
p.Gln108AspfsTer44(p.Q108Dfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378000 |
| Start |
16486559:16486559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370033967
|
| CDS Mutation |
c.640C>T |
| AA Mutation |
p.Arg214Ter(p.R214*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTER
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378000 |
| Start |
16484739:16484739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767872311
|
| CDS Mutation |
c.355G>A |
| AA Mutation |
p.Val119Ile(p.V119I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378000 |
| Start |
16484738:16484738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs561887103
|
| CDS Mutation |
c.354C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|