| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47117875:47117876(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1459_1460insCTGG |
| AA Mutation |
p.Arg487ProfsTer28(p.R487Pfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47082333:47082333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769199451
|
| CDS Mutation |
c.365-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP4Z1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47068697:47068697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.253G>A |
| AA Mutation |
p.Gly85Arg(p.G85R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47115578:47115578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1251C>A |
| AA Mutation |
p.Phe417Leu(p.F417L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47099114:47099114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.897C>A |
| AA Mutation |
p.Phe299Leu(p.F299L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47117928:47117928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1512T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334194 |
| Start |
47116687:47116687(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1309delA |
| AA Mutation |
p.Ile437TyrfsTer13(p.I437Yfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|