| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48074867:48074867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760328801
|
| CDS Mutation |
c.906C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48098260:48098261(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.448-2dupA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLA2G4C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48048362:48048362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114852075
|
| CDS Mutation |
c.1607G>A |
| AA Mutation |
p.Arg536Gln(p.R536Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48104622:48104622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149438480
|
| CDS Mutation |
c.223G>A |
| AA Mutation |
p.Val75Ile(p.V75I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48062009:48062009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1246G>A |
| AA Mutation |
p.Asp416Asn(p.D416N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48055048:48055048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1259C>A |
| AA Mutation |
p.Thr420Asn(p.T420N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48062024:48062024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs11564638
|
| CDS Mutation |
c.1231G>A |
| AA Mutation |
p.Asp411Asn(p.D411N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48098145:48098145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.562G>A |
| AA Mutation |
p.Ala188Thr(p.A188T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48099795:48099795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757288712
|
| CDS Mutation |
c.323G>A |
| AA Mutation |
p.Arg108Gln(p.R108Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48095531:48095531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147338051
|
| CDS Mutation |
c.642C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000599921 |
| Start |
48105420:48105420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.33G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000599921 |
| Start |
48105410:48105410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.43G>T |
| AA Mutation |
p.Glu15Ter(p.E15*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|