| Mutation ID |
20 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000257694 |
| Start |
108497482:108497482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1453+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000257694 |
| Start |
108514915:108514917(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.575_577delACA |
| AA Mutation |
p.Tyr192_Thr193delinsSer(p.Y192_T193delinsS) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PNPLA8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257694 |
| Start |
108479351:108479351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771622986
|
| CDS Mutation |
c.1907C>T |
| AA Mutation |
p.Ser636Leu(p.S636L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257694 |
| Start |
108502516:108502516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1333C>A |
| AA Mutation |
p.Leu445Ile(p.L445I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257694 |
| Start |
108479216:108479216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2042C>A |
| AA Mutation |
p.Ser681Tyr(p.S681Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257694 |
| Start |
108515220:108515220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.272C>T |
| AA Mutation |
p.Pro91Leu(p.P91L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|