| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000502773 |
| Start |
156970839:156970839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.65C>A |
| AA Mutation |
p.Ala22Glu(p.A22E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000502773 |
| Start |
156810914:156810914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.418A>G |
| AA Mutation |
p.Ile140Val(p.I140V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000502773 |
| Start |
156970858:156970867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.37_46delCTGGCCGGCC |
| AA Mutation |
p.Leu13ArgfsTer11(p.L13Rfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |