| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000266000 |
| Start |
33318756:33318756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2210C>G |
| AA Mutation |
p.Ser737Ter(p.S737*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33319435:33319436(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1884dupC |
| AA Mutation |
p.Cys629LeufsTer29(p.C629Lfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DAXX
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33319836:33319836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1484G>A |
| AA Mutation |
p.Ser495Asn(p.S495N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33321883:33321883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758327720
|
| CDS Mutation |
c.43G>A |
| AA Mutation |
p.Glu15Lys(p.E15K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33320831:33320831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.944A>T |
| AA Mutation |
p.Asp315Val(p.D315V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33319436:33319436(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1884delC |
| AA Mutation |
p.Cys629AlafsTer16(p.C629Afs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|