| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000612423 |
| Start |
103787887:103787887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.543G>T |
| AA Mutation |
p.Trp181Cys(p.W181C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000612423 |
| Start |
103786589:103786589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.316A>G |
| AA Mutation |
p.Thr106Ala(p.T106A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000612423 |
| Start |
103786520:103786520(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.250delG |
| AA Mutation |
p.Ala84ProfsTer30(p.A84Pfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |