| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368468 |
| Start |
119189805:119189805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1405C>T |
| AA Mutation |
p.His469Tyr(p.H469Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368468 |
| Start |
119348500:119348500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.566A>T |
| AA Mutation |
p.Asp189Val(p.D189V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368468 |
| Start |
119189847:119189847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754857944
|
| CDS Mutation |
c.1363G>A |
| AA Mutation |
p.Gly455Arg(p.G455R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |