| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000402038 |
| Start |
49820231:49820231(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2710delG |
| AA Mutation |
p.Asp904ThrfsTer4(p.D904Tfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402038 |
| Start |
49934129:49934129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319G>T |
| AA Mutation |
p.Glu107Ter(p.E107*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PARG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402038 |
| Start |
49841963:49841963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782110437
|
| CDS Mutation |
c.2528G>A |
| AA Mutation |
p.Arg843His(p.R843H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402038 |
| Start |
49842028:49842028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2463C>G |
| AA Mutation |
p.Ile821Met(p.I821M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402038 |
| Start |
49934143:49934143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.305A>G |
| AA Mutation |
p.Asn102Ser(p.N102S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402038 |
| Start |
49915931:49915931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs548802619
|
| CDS Mutation |
c.1723G>A |
| AA Mutation |
p.Asp575Asn(p.D575N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402038 |
| Start |
49933839:49933839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.609G>T |
| AA Mutation |
p.Glu203Asp(p.E203D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402038 |
| Start |
49819456:49819456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2815G>T |
| AA Mutation |
p.Glu939Ter(p.E939*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|