| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366956 |
| Start |
214384141:214384141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200947677
|
| CDS Mutation |
c.1714C>T |
| AA Mutation |
p.Arg572Trp(p.R572W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366956 |
| Start |
214372724:214372724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3023T>C |
| AA Mutation |
p.Val1008Ala(p.V1008A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366956 |
| Start |
214383884:214383884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761909201
|
| CDS Mutation |
c.1971G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |