Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47350162G>ACA376671248RBP3c.1678G>A (p.Gly560Ser)
dbSNP gnomAD v3 gnomAD v4
10g.47350162G>CCA376671250RBP3c.1678G>C (p.Gly560Arg)
10g.47350162G=CA1907806219RBP3c.1678G= (p.Gly560=)
10g.47350162G>TCA376671251RBP3c.1678G>T (p.Gly560Cys)
10g.47350163G>ACA376671253RBP3c.1679G>A (p.Gly560Asp)
10g.47350163G>CCA376671255RBP3c.1679G>C (p.Gly560Ala)
dbSNP gnomAD v2 gnomAD v4
10g.47350163G=CA1907806220RBP3c.1679G= (p.Gly560=)
10g.47350163G>TCA376671256RBP3c.1679G>T (p.Gly560Val)
10g.47350164C>ACA469782205RBP3c.1680C>A (p.Gly560=)
10g.47350164C=CA1907806221RBP3c.1680C= (p.Gly560=)
10g.47350164C>GCA469782206RBP3c.1680C>G (p.Gly560=)
10g.47350164C>TCA469782207RBP3c.1680C>T (p.Gly560=)
dbSNP gnomAD v2 gnomAD v4
10g.47350165T>ACA376671258RBP3c.1681T>A (p.Trp561Arg)
10g.47350165T>CCA376671260RBP3c.1681T>C (p.Trp561Arg)
10g.47350165T>GCA376671261RBP3c.1681T>G (p.Trp561Gly)
10g.47350165T=CA1907806223RBP3c.1681T= (p.Trp561=)
10g.47350166G>ACA376671263RBP3c.1682G>A (p.Trp561Ter)
gnomAD v4
10g.47350166G>CCA376671264RBP3c.1682G>C (p.Trp561Ser)
10g.47350166G>TCA376671266RBP3c.1682G>T (p.Trp561Leu)
10g.47350166_47350170dupCA593487652RBP3c.1682_1686dup (p.Thr563GlyfsTer5)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350167G>ACA376671271RBP3c.1683G>A (p.Trp561Ter)
ClinVar gnomAD v4
10g.47350167G>CCA376671269RBP3c.1683G>C (p.Trp561Cys)
10g.47350167G>TCA376671268RBP3c.1683G>T (p.Trp561Cys)
10g.47350168G>ACA376671274RBP3c.1684G>A (p.Ala562Thr)
gnomAD v4
10g.47350168G>CCA376671272RBP3c.1684G>C (p.Ala562Pro)
10g.47350168G>TCA376671275RBP3c.1684G>T (p.Ala562Ser)
gnomAD v4
10g.47350169C>ACA376671278RBP3c.1685C>A (p.Ala562Asp)
10g.47350169C=CA1907806224RBP3c.1685C= (p.Ala562=)
10g.47350169C>GCA376671280RBP3c.1685C>G (p.Ala562Gly)
10g.47350169C>TCA376671279RBP3c.1685C>T (p.Ala562Val)
dbSNP gnomAD v3 gnomAD v4
10g.47350170C>ACA469782349RBP3c.1686C>A (p.Ala562=)
10g.47350170C>GCA469782348RBP3c.1686C>G (p.Ala562=)
10g.47350170C>TCA469782347RBP3c.1686C>T (p.Ala562=)
10g.47350171A>CCA376671283RBP3c.1687A>C (p.Thr563Pro)
10g.47350171A>GCA376671285RBP3c.1687A>G (p.Thr563Ala)
10g.47350171A>TCA376671284RBP3c.1687A>T (p.Thr563Ser)
10g.47350172C>ACA376671287RBP3c.1688C>A (p.Thr563Lys)
10g.47350172C=CA1907806226RBP3c.1688C= (p.Thr563=)
10g.47350172C>GCA376671289RBP3c.1688C>G (p.Thr563Arg)
10g.47350172C>TCA376671290RBP3c.1688C>T (p.Thr563Ile)
dbSNP gnomAD v2 gnomAD v4
10g.47350173A=CA1907806227RBP3c.1689A= (p.Thr563=)
10g.47350173A>CCA469782356RBP3c.1689A>C (p.Thr563=)
dbSNP gnomAD v4
10g.47350173A>GCA469782362RBP3c.1689A>G (p.Thr563=)
dbSNP
10g.47350173A>TCA469782364RBP3c.1689A>T (p.Thr563=)
10g.47350174C>ACA376671292RBP3c.1690C>A (p.Leu564Met)
10g.47350174C>GCA376671293RBP3c.1690C>G (p.Leu564Val)
10g.47350174C>TCA469782365RBP3c.1690C>T (p.Leu564=)
10g.47350175T>ACA376671295RBP3c.1691T>A (p.Leu564Gln)
10g.47350175T>CCA376671297RBP3c.1691T>C (p.Leu564Pro)
10g.47350175T>GCA376671298RBP3c.1691T>G (p.Leu564Arg)

Number of alleles fetched