| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131652833:131652833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.406G>T |
| AA Mutation |
p.Glu136Ter(p.E136*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131746924:131746925(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2596_2597insGCTT |
| AA Mutation |
p.Thr866SerfsTer8(p.T866Sfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ENPP3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131637390:131637390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6A>C |
| AA Mutation |
p.Glu2Asp(p.E2D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131722228:131722228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1569T>A |
| AA Mutation |
p.Asp523Glu(p.D523E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131652575:131652575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.311G>C |
| AA Mutation |
p.Gly104Ala(p.G104A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131675105:131675105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.788G>A |
| AA Mutation |
p.Gly263Asp(p.G263D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131674224:131674224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.705G>T |
| AA Mutation |
p.Lys235Asn(p.K235N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357639 |
| Start |
131685451:131685451(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1213delC |
| AA Mutation |
p.Arg405AlafsTer36(p.R405Afs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|