| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342232 |
| Start |
74320979:74320979(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.309delC |
| AA Mutation |
p.Ala104LeufsTer51(p.A104Lfs*51) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342232 |
| Start |
74315021:74315021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.979G>T |
| AA Mutation |
p.Glu327Ter(p.E327*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> JPH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342232 |
| Start |
74244534:74244534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1900A>C |
| AA Mutation |
p.Asn634His(p.N634H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342232 |
| Start |
74315219:74315219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780428213
|
| CDS Mutation |
c.781G>A |
| AA Mutation |
p.Asp261Asn(p.D261N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|