| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000379883 |
| Start |
32481338:32481338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1638+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000379883 |
| Start |
32473006:32473017(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1972_1983delCCTGGCATATTG |
| AA Mutation |
p.Pro658_Leu661del(p.P658_L661del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DDX58
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379883 |
| Start |
32493916:32493916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.268G>A |
| AA Mutation |
p.Glu90Lys(p.E90K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379883 |
| Start |
32480317:32480317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1676G>A |
| AA Mutation |
p.Arg559Gln(p.R559Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379883 |
| Start |
32493820:32493820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749687427
|
| CDS Mutation |
c.364G>A |
| AA Mutation |
p.Asp122Asn(p.D122N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379883 |
| Start |
32466355:32466355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs553716308
|
| CDS Mutation |
c.2272G>T |
| AA Mutation |
p.Glu758Ter(p.E758*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|