| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000268482 |
| Start |
72098779:72098779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.751C>T |
| AA Mutation |
p.Arg251Ter(p.R251*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268482 |
| Start |
72104557:72104558(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2088dupT |
| AA Mutation |
p.Gly697TrpfsTer16(p.G697Wfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DHX38
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268482 |
| Start |
72101186:72101186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779025493
|
| CDS Mutation |
c.1379G>A |
| AA Mutation |
p.Arg460His(p.R460H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268482 |
| Start |
72097773:72097773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.608G>A |
| AA Mutation |
p.Arg203Gln(p.R203Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268482 |
| Start |
72100442:72100442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773991276
|
| CDS Mutation |
c.1123G>A |
| AA Mutation |
p.Glu375Lys(p.E375K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268482 |
| Start |
72096969:72096969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375554088
|
| CDS Mutation |
c.471G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|