Gene >> DOK1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233668 |
| Start |
74556917:74556917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1249A>T |
| AA Mutation |
p.Thr417Ser(p.T417S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233668 |
| Start |
74555332:74555332(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.245delC |
| AA Mutation |
p.Pro82LeufsTer76(p.P82Lfs*76) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |