Gene >> WASL
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223023 |
| Start |
123748677:123748677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.58C>G |
| AA Mutation |
p.Leu20Val(p.L20V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000223023 |
| Start |
123692431:123692431(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1263delA |
| AA Mutation |
p.Val422TrpfsTer17(p.V422Wfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |