| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300571 |
| Start |
19872028:19872028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.818C>T |
| AA Mutation |
p.Ala273Val(p.A273V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300571 |
| Start |
19872608:19872608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200327225
|
| CDS Mutation |
c.238C>T |
| AA Mutation |
p.Arg80Trp(p.R80W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300571 |
| Start |
19871934:19871934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199673129
|
| CDS Mutation |
c.912G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |