| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38951539:38951539(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.780delT |
| AA Mutation |
p.Phe260LeufsTer8(p.F260Lfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38952300:38952300(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs754952124
|
| CDS Mutation |
c.1543delC |
| AA Mutation |
p.His515ThrfsTer6(p.H515Tfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FAM83D
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38952047:38952047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1285G>C |
| AA Mutation |
p.Ala429Pro(p.A429P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38947951:38947951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.727G>A |
| AA Mutation |
p.Glu243Lys(p.E243K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000619850 |
| Start |
38952385:38952385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1623G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|