| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135905297:135905297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359G>A |
| AA Mutation |
p.Gly120Asp(p.G120D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135901641:135901641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.170C>G |
| AA Mutation |
p.Ser57Cys(p.S57C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135908094:135908094(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1165delA |
| AA Mutation |
p.Thr389ProfsTer40(p.T389Pfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |