| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260315 |
| Start |
105002175:105002175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.570C>G |
| AA Mutation |
p.Asp190Glu(p.D190E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260315 |
| Start |
105000486:105000486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.727T>C |
| AA Mutation |
p.Ser243Pro(p.S243P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260315 |
| Start |
105003284:105003284(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.533delA |
| AA Mutation |
p.Asn178IlefsTer8(p.N178Ifs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |