| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360046 |
| Start |
27129418:27129418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200302499
|
| CDS Mutation |
c.770G>A |
| AA Mutation |
p.Arg257His(p.R257H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360046 |
| Start |
27130622:27130622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.112G>A |
| AA Mutation |
p.Gly38Arg(p.G38R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360046 |
| Start |
27129323:27129323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.865G>A |
| AA Mutation |
p.Ala289Thr(p.A289T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |