| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124137245:124137246(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1857dupA |
| AA Mutation |
p.Leu620IlefsTer16(p.L620Ifs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124123455:124123455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748858579
|
| CDS Mutation |
c.1019+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VWA5A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124118315:124118315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.373G>A |
| AA Mutation |
p.Val125Ile(p.V125I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124123762:124123762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1122G>T |
| AA Mutation |
p.Gln374His(p.Q374H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124136242:124136242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1473C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124145933:124145933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2349C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392748 |
| Start |
124134987:124134987(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1316delG |
| AA Mutation |
p.Gly439AlafsTer20(p.G439Afs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|