| Mutation ID |
59 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000396087 |
| Start |
20068185:20068185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5053-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
60 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000396087 |
| Start |
20118258:20118258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7467A>G |
| AA Mutation |
p.Ter2489TrpextTer86(p.*2489Wext*86) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NAV2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396087 |
| Start |
19868931:19868931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.445A>C |
| AA Mutation |
p.Asn149His(p.N149H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396087 |
| Start |
20083031:20083031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5527T>A |
| AA Mutation |
p.Phe1843Ile(p.F1843I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396087 |
| Start |
20056569:20056569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771139211
|
| CDS Mutation |
c.4940G>A |
| AA Mutation |
p.Arg1647His(p.R1647H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396087 |
| Start |
19933686:19933686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1511C>A |
| AA Mutation |
p.Ser504Tyr(p.S504Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396087 |
| Start |
20048790:20048790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764024557
|
| CDS Mutation |
c.4034C>T |
| AA Mutation |
p.Ser1345Leu(p.S1345L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|