| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321535 |
| Start |
6780242:6780242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200344565
|
| CDS Mutation |
c.374G>A |
| AA Mutation |
p.Arg125His(p.R125H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321535 |
| Start |
6780661:6780661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202030641
|
| CDS Mutation |
c.793G>A |
| AA Mutation |
p.Gly265Arg(p.G265R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321535 |
| Start |
6786906:6786906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1150C>T |
| AA Mutation |
p.Arg384Trp(p.R384W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |