Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.119726897C>TCA116478PHGDHc.403C>T (p.Arg135Trp)
c.625C>T (p.Arg209Trp)
c.547C>T (p.Arg183Trp)
c.514C>T (p.Arg172Trp)
c.340C>T (p.Arg114Trp)
c.118C>T (p.Arg40Trp)
c.109C>T (p.Arg37Trp)
c.301C>T (p.Arg101Trp)
n.671C>T
n.592C>T
ClinVar dbSNP ExAC gnomAD COSMIC
1g.119726897C>GCA1037075PHGDHc.403C>G (p.Arg135Gly)
c.625C>G (p.Arg209Gly)
c.547C>G (p.Arg183Gly)
c.514C>G (p.Arg172Gly)
c.340C>G (p.Arg114Gly)
c.118C>G (p.Arg40Gly)
c.109C>G (p.Arg37Gly)
c.301C>G (p.Arg101Gly)
n.671C>G
n.592C>G
dbSNP ExAC gnomAD
1g.119726897C>ACA1037076PHGDHc.403C>A (p.Arg135=)
c.625C>A (p.Arg209=)
c.547C>A (p.Arg183=)
c.514C>A (p.Arg172=)
c.340C>A (p.Arg114=)
c.118C>A (p.Arg40=)
c.109C>A (p.Arg37=)
c.301C>A (p.Arg101=)
n.671C>A
n.592C>A
dbSNP ExAC gnomAD

Number of alleles fetched