| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372764 |
| Start |
73913304:73913304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371297216
|
| CDS Mutation |
c.383G>A |
| AA Mutation |
p.Arg128Gln(p.R128Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372764 |
| Start |
73913053:73913053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.323G>A |
| AA Mutation |
p.Arg108Lys(p.R108K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372764 |
| Start |
73913659:73913659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145865648
|
| CDS Mutation |
c.581C>T |
| AA Mutation |
p.Ala194Val(p.A194V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |