Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.763636G>ACA346985SLC52A3c.935C>T (p.Ala312Val)
c.567+1572C>T (n.567+1572C>T)
n.618+1572C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.763636G=CA2345349316SLC52A3c.935C= (p.Ala312=)
c.567+1572C= (n.567+1572C=)
n.618+1572C=
 dbSNP

Number of alleles fetched