| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000237596 |
| Start |
88052141:88052141(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1704delT |
| AA Mutation |
p.Phe568LeufsTer16(p.F568Lfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000237596 |
| Start |
88067946:88067946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778235410
|
| CDS Mutation |
c.2407C>T |
| AA Mutation |
p.Arg803Ter(p.R803*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PKD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237596 |
| Start |
88068043:88068043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2504C>A |
| AA Mutation |
p.Ser835Tyr(p.S835Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237596 |
| Start |
88043254:88043254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1116A>C |
| AA Mutation |
p.Lys372Asn(p.K372N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000237596 |
| Start |
88075487:88075487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2700C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000237596 |
| Start |
88074822:88074822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369678636
|
| CDS Mutation |
c.2533C>T |
| AA Mutation |
p.Arg845Ter(p.R845*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|