| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290894 |
| Start |
45167963:45167963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1256C>T |
| AA Mutation |
p.Ala419Val(p.A419V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290894 |
| Start |
45171925:45171925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372948670
|
| CDS Mutation |
c.1043G>A |
| AA Mutation |
p.Arg348His(p.R348H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290894 |
| Start |
45178284:45178284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200925244
|
| CDS Mutation |
c.326C>T |
| AA Mutation |
p.Ala109Val(p.A109V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |