| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226319 |
| Start |
128843024:128843024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.124C>T |
| AA Mutation |
p.Arg42Ter(p.R42*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000226319 |
| Start |
128861896:128861897(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1180dupC |
| AA Mutation |
p.Arg394ProfsTer11(p.R394Pfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> JADE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226319 |
| Start |
128842983:128842983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371320173
|
| CDS Mutation |
c.83G>A |
| AA Mutation |
p.Arg28Gln(p.R28Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226319 |
| Start |
128831772:128831772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766185273
|
| CDS Mutation |
c.14G>A |
| AA Mutation |
p.Arg5His(p.R5H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226319 |
| Start |
128852176:128852176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.604G>T |
| AA Mutation |
p.Glu202Ter(p.E202*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|