Gene >> DOCK11
| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000276202 |
| Start |
118542840:118542840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.218C>A |
| AA Mutation |
p.Ser73Tyr(p.S73Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000276202 |
| Start |
118608123:118608133(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2735_2745delTAAGATCATTC |
| AA Mutation |
p.Leu912HisfsTer4(p.L912Hfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |