Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45512225G>TCA410502175COL18A1,SLC19A1c.4387G>T (p.Gly1463Trp)
c.3847G>T (p.Gly1283Trp)
c.1891G>T (p.Gly631Trp)
c.5092G>T (p.Gly1698Trp)
c.497+13592C>A
c.801G>T
n.2173G>T
c.1293+13592C>A (n.1293+13592C>A)
c.4378G>T (p.Gly1460Trp)
c.5083G>T (p.Gly1695Trp)
c.3838G>T (p.Gly1280Trp)
c.1585-9256C>A (n.1585-9256C>A)
ClinVar dbSNP
21g.45512225G>ACA410502173COL18A1,SLC19A1c.4387G>A (p.Gly1463Arg)
c.3847G>A (p.Gly1283Arg)
c.1891G>A (p.Gly631Arg)
c.5092G>A (p.Gly1698Arg)
c.497+13592C>T
c.801G>A
n.2173G>A
c.1293+13592C>T (n.1293+13592C>T)
c.4378G>A (p.Gly1460Arg)
c.5083G>A (p.Gly1695Arg)
c.3838G>A (p.Gly1280Arg)
c.1585-9256C>T (n.1585-9256C>T)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched