| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354234 |
| Start |
49491834:49491834(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs775302281
|
| CDS Mutation |
c.2152delA |
| AA Mutation |
p.Ile718TyrfsTer11(p.I718Yfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354234 |
| Start |
49476974:49476974(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.840T>A |
| AA Mutation |
p.Tyr280Ter(p.Y280*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SETDB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354234 |
| Start |
49476725:49476725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.591G>T |
| AA Mutation |
p.Arg197Ser(p.R197S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354234 |
| Start |
49476642:49476642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.508A>C |
| AA Mutation |
p.Lys170Gln(p.K170Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354234 |
| Start |
49460174:49460174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367767717
|
| CDS Mutation |
c.84A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354234 |
| Start |
49451901:49451901(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.14delA |
| AA Mutation |
p.Asn5MetfsTer11(p.N5Mfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|