| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283243 |
| Start |
160044957:160044958(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.309_310insGAAATCCACT |
| AA Mutation |
p.Tyr104GlufsTer5(p.Y104Efs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000283243 |
| Start |
159949777:159949777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3541-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLA2R1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283243 |
| Start |
160045108:160045108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.159A>T |
| AA Mutation |
p.Gln53His(p.Q53H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283243 |
| Start |
159983966:159983966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2145G>T |
| AA Mutation |
p.Glu715Asp(p.E715D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283243 |
| Start |
159944963:159944963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4087T>G |
| AA Mutation |
p.Leu1363Val(p.L1363V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283243 |
| Start |
159949690:159949690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374812046
|
| CDS Mutation |
c.3627C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283243 |
| Start |
160044841:160044841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267598938
|
| CDS Mutation |
c.426G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283243 |
| Start |
160020129:160020129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1429C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000283243 |
| Start |
159976094:159976094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2569G>T |
| AA Mutation |
p.Glu857Ter(p.E857*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|