Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.38144382C>TCA120037STARc.749G>A (p.Trp250Ter)
n.2718G>A
c.591G>A
c.655G>A (p.Gly219Ser)
ClinVar dbSNP gnomAD v4
8g.38144382C=CA1777409325STARc.749G= (p.Trp250=)
n.2718G=
c.591G=
c.655G= (p.Gly219=)
dbSNP
8g.38144382C>GCA370696256STARc.749G>C (p.Trp250Ser)
n.2718G>C
c.591G>C
c.655G>C (p.Gly219Arg)
dbSNP gnomAD v4

Number of alleles fetched