| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217188 |
| Start |
63540931:63540931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1354C>T |
| AA Mutation |
p.Pro452Ser(p.P452S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217188 |
| Start |
63547262:63547262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149894938
|
| CDS Mutation |
c.202G>A |
| AA Mutation |
p.Gly68Arg(p.G68R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217188 |
| Start |
63541506:63541506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775845157
|
| CDS Mutation |
c.1061G>A |
| AA Mutation |
p.Arg354Gln(p.R354Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |