| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323030 |
| Start |
45114621:45114621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767813041
|
| CDS Mutation |
c.16G>A |
| AA Mutation |
p.Gly6Ser(p.G6S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323030 |
| Start |
45117883:45117883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.937T>G |
| AA Mutation |
p.Leu313Val(p.L313V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323030 |
| Start |
45116608:45116608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.433G>A |
| AA Mutation |
p.Ala145Thr(p.A145T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |