| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324816 |
| Start |
32155772:32155772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.422G>A |
| AA Mutation |
p.Gly141Glu(p.G141E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324816 |
| Start |
32155757:32155757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.407C>T |
| AA Mutation |
p.Ser136Phe(p.S136F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324816 |
| Start |
32162933:32162933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.892G>T |
| AA Mutation |
p.Glu298Ter(p.E298*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |