| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376701 |
| Start |
48688782:48688782(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1058delC |
| AA Mutation |
p.Pro353HisfsTer92(p.P353Hfs*92) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000376701 |
| Start |
48688097:48688097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.777+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> WAS
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376701 |
| Start |
48688448:48688448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.926G>A |
| AA Mutation |
p.Arg309His(p.R309H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376701 |
| Start |
48688396:48688396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.874G>A |
| AA Mutation |
p.Asp292Asn(p.D292N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|