| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000531114 |
| Start |
119187626:119187626(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.786delC |
| AA Mutation |
p.Ala264ProfsTer6(p.A264Pfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000531114 |
| Start |
119186556:119186556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.394C>T |
| AA Mutation |
p.Gln132Ter(p.Q132*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDZD3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000531114 |
| Start |
119186650:119186650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771058357
|
| CDS Mutation |
c.488C>T |
| AA Mutation |
p.Ala163Val(p.A163V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000531114 |
| Start |
119188447:119188447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774352787
|
| CDS Mutation |
c.1153G>A |
| AA Mutation |
p.Val385Met(p.V385M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000531114 |
| Start |
119188643:119188643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200892689
|
| CDS Mutation |
c.1261C>T |
| AA Mutation |
p.Arg421Cys(p.R421C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|