| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000419869 |
| Start |
15889939:15889939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.260A>G |
| AA Mutation |
p.Asp87Gly(p.D87G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000419869 |
| Start |
15902921:15902921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.996A>C |
| AA Mutation |
p.Glu332Asp(p.E332D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000419869 |
| Start |
15894081:15894081(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.444delA |
| AA Mutation |
p.Ala149LeufsTer26(p.A149Lfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |