| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227101004:227101005(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2236dupA |
| AA Mutation |
p.Thr746AsnfsTer8(p.T746Nfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227193785:227193785(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.599+1delG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CDC42BPA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227145578:227145578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1054C>T |
| AA Mutation |
p.Arg352Trp(p.R352W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227091956:227091956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770731771
|
| CDS Mutation |
c.2285A>G |
| AA Mutation |
p.Lys762Arg(p.K762R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227119835:227119835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375379778
|
| CDS Mutation |
c.1616C>T |
| AA Mutation |
p.Thr539Met(p.T539M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227023314:227023314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4498C>A |
| AA Mutation |
p.Leu1500Ile(p.L1500I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227034774:227034774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3291G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227101004:227101005(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2236dupA |
| AA Mutation |
p.Thr746AsnfsTer8(p.T746Nfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|