Gene >> VWF
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
5949845:5949845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8194C>A |
| AA Mutation |
p.Gln2732Lys(p.Q2732K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6044389:6044389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61748471
|
| CDS Mutation |
c.2344C>T |
| AA Mutation |
p.Arg782Trp(p.R782W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |