Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.159341583A>CCA358591020RAPGEF2c.2071A>C (p.Met691Leu)
c.2554A>C (p.Met852Leu)
c.2536A>C (p.Met846Leu)
c.2200A>C (p.Met734Leu)
c.2206A>C (p.Met736Leu)
c.2218A>C (p.Met740Leu)
c.2188A>C (p.Met730Leu)
4g.159341583A>GCA358591022RAPGEF2c.2071A>G (p.Met691Val)
c.2554A>G (p.Met852Val)
c.2536A>G (p.Met846Val)
c.2200A>G (p.Met734Val)
c.2206A>G (p.Met736Val)
c.2218A>G (p.Met740Val)
c.2188A>G (p.Met730Val)
gnomAD v4
4g.159341583A>TCA358591021RAPGEF2c.2071A>T (p.Met691Leu)
c.2554A>T (p.Met852Leu)
c.2536A>T (p.Met846Leu)
c.2200A>T (p.Met734Leu)
c.2206A>T (p.Met736Leu)
c.2218A>T (p.Met740Leu)
c.2188A>T (p.Met730Leu)
gnomAD v4
4g.159341584T>ACA358591023RAPGEF2c.2072T>A (p.Met691Lys)
c.2555T>A (p.Met852Lys)
c.2537T>A (p.Met846Lys)
c.2201T>A (p.Met734Lys)
c.2207T>A (p.Met736Lys)
c.2219T>A (p.Met740Lys)
c.2189T>A (p.Met730Lys)
4g.159341584T>CCA3124787RAPGEF2c.2072T>C (p.Met691Thr)
c.2555T>C (p.Met852Thr)
c.2537T>C (p.Met846Thr)
c.2201T>C (p.Met734Thr)
c.2207T>C (p.Met736Thr)
c.2219T>C (p.Met740Thr)
c.2189T>C (p.Met730Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.159341584T>GCA358591024RAPGEF2c.2072T>G (p.Met691Arg)
c.2555T>G (p.Met852Arg)
c.2537T>G (p.Met846Arg)
c.2201T>G (p.Met734Arg)
c.2207T>G (p.Met736Arg)
c.2219T>G (p.Met740Arg)
c.2189T>G (p.Met730Arg)
4g.159341584T=CA1507167696RAPGEF2c.2072T= (p.Met691=)
c.2555T= (p.Met852=)
c.2537T= (p.Met846=)
c.2201T= (p.Met734=)
c.2207T= (p.Met736=)
c.2219T= (p.Met740=)
c.2189T= (p.Met730=)
4g.159341585G>ACA3124788RAPGEF2c.2073G>A (p.Met691Ile)
c.2556G>A (p.Met852Ile)
c.2538G>A (p.Met846Ile)
c.2202G>A (p.Met734Ile)
c.2208G>A (p.Met736Ile)
c.2220G>A (p.Met740Ile)
c.2190G>A (p.Met730Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.159341585G>CCA358591025RAPGEF2c.2073G>C (p.Met691Ile)
c.2556G>C (p.Met852Ile)
c.2538G>C (p.Met846Ile)
c.2202G>C (p.Met734Ile)
c.2208G>C (p.Met736Ile)
c.2220G>C (p.Met740Ile)
c.2190G>C (p.Met730Ile)
4g.159341585G=CA1507167697RAPGEF2c.2073G= (p.Met691=)
c.2556G= (p.Met852=)
c.2538G= (p.Met846=)
c.2202G= (p.Met734=)
c.2208G= (p.Met736=)
c.2220G= (p.Met740=)
c.2190G= (p.Met730=)
4g.159341585G>TCA358591026RAPGEF2c.2073G>T (p.Met691Ile)
c.2556G>T (p.Met852Ile)
c.2538G>T (p.Met846Ile)
c.2202G>T (p.Met734Ile)
c.2208G>T (p.Met736Ile)
c.2220G>T (p.Met740Ile)
c.2190G>T (p.Met730Ile)
4g.159341586G>ACA358591027RAPGEF2c.2074G>A (p.Glu692Lys)
c.2557G>A (p.Glu853Lys)
c.2539G>A (p.Glu847Lys)
c.2203G>A (p.Glu735Lys)
c.2209G>A (p.Glu737Lys)
c.2221G>A (p.Glu741Lys)
c.2191G>A (p.Glu731Lys)
gnomAD v4
4g.159341586G>CCA358591028RAPGEF2c.2074G>C (p.Glu692Gln)
c.2557G>C (p.Glu853Gln)
c.2539G>C (p.Glu847Gln)
c.2203G>C (p.Glu735Gln)
c.2209G>C (p.Glu737Gln)
c.2221G>C (p.Glu741Gln)
c.2191G>C (p.Glu731Gln)
4g.159341586G>TCA358591029RAPGEF2c.2074G>T (p.Glu692Ter)
c.2557G>T (p.Glu853Ter)
c.2539G>T (p.Glu847Ter)
c.2203G>T (p.Glu735Ter)
c.2209G>T (p.Glu737Ter)
c.2221G>T (p.Glu741Ter)
c.2191G>T (p.Glu731Ter)
4g.159341587A>CCA358591030RAPGEF2c.2075A>C (p.Glu692Ala)
c.2558A>C (p.Glu853Ala)
c.2540A>C (p.Glu847Ala)
c.2204A>C (p.Glu735Ala)
c.2210A>C (p.Glu737Ala)
c.2222A>C (p.Glu741Ala)
c.2192A>C (p.Glu731Ala)
4g.159341587A>GCA358591031RAPGEF2c.2075A>G (p.Glu692Gly)
c.2558A>G (p.Glu853Gly)
c.2540A>G (p.Glu847Gly)
c.2204A>G (p.Glu735Gly)
c.2210A>G (p.Glu737Gly)
c.2222A>G (p.Glu741Gly)
c.2192A>G (p.Glu731Gly)
gnomAD v4
4g.159341587A>TCA358591032RAPGEF2c.2075A>T (p.Glu692Val)
c.2558A>T (p.Glu853Val)
c.2540A>T (p.Glu847Val)
c.2204A>T (p.Glu735Val)
c.2210A>T (p.Glu737Val)
c.2222A>T (p.Glu741Val)
c.2192A>T (p.Glu731Val)
4g.159341588A=CA1507167698RAPGEF2c.2076A= (p.Glu692=)
c.2559A= (p.Glu853=)
c.2541A= (p.Glu847=)
c.2205A= (p.Glu735=)
c.2211A= (p.Glu737=)
c.2223A= (p.Glu741=)
c.2193A= (p.Glu731=)
4g.159341588A>CCA358591033RAPGEF2c.2076A>C (p.Glu692Asp)
c.2559A>C (p.Glu853Asp)
c.2541A>C (p.Glu847Asp)
c.2205A>C (p.Glu735Asp)
c.2211A>C (p.Glu737Asp)
c.2223A>C (p.Glu741Asp)
c.2193A>C (p.Glu731Asp)
4g.159341588A>GCA442144663RAPGEF2c.2076A>G (p.Glu692=)
c.2559A>G (p.Glu853=)
c.2541A>G (p.Glu847=)
c.2205A>G (p.Glu735=)
c.2211A>G (p.Glu737=)
c.2223A>G (p.Glu741=)
c.2193A>G (p.Glu731=)
dbSNP gnomAD v4
4g.159341588A>TCA358591034RAPGEF2c.2076A>T (p.Glu692Asp)
c.2559A>T (p.Glu853Asp)
c.2541A>T (p.Glu847Asp)
c.2205A>T (p.Glu735Asp)
c.2211A>T (p.Glu737Asp)
c.2223A>T (p.Glu741Asp)
c.2193A>T (p.Glu731Asp)
4g.159341589A>CCA358591037RAPGEF2c.2077A>C (p.Thr693Pro)
c.2560A>C (p.Thr854Pro)
c.2542A>C (p.Thr848Pro)
c.2206A>C (p.Thr736Pro)
c.2212A>C (p.Thr738Pro)
c.2224A>C (p.Thr742Pro)
c.2194A>C (p.Thr732Pro)
4g.159341589A>GCA358591035RAPGEF2c.2077A>G (p.Thr693Ala)
c.2560A>G (p.Thr854Ala)
c.2542A>G (p.Thr848Ala)
c.2206A>G (p.Thr736Ala)
c.2212A>G (p.Thr738Ala)
c.2224A>G (p.Thr742Ala)
c.2194A>G (p.Thr732Ala)
4g.159341589A>TCA358591036RAPGEF2c.2077A>T (p.Thr693Ser)
c.2560A>T (p.Thr854Ser)
c.2542A>T (p.Thr848Ser)
c.2206A>T (p.Thr736Ser)
c.2212A>T (p.Thr738Ser)
c.2224A>T (p.Thr742Ser)
c.2194A>T (p.Thr732Ser)
4g.159341590C>ACA358591038RAPGEF2c.2078C>A (p.Thr693Lys)
c.2561C>A (p.Thr854Lys)
c.2543C>A (p.Thr848Lys)
c.2207C>A (p.Thr736Lys)
c.2213C>A (p.Thr738Lys)
c.2225C>A (p.Thr742Lys)
c.2195C>A (p.Thr732Lys)
4g.159341590C>GCA358591039RAPGEF2c.2078C>G (p.Thr693Arg)
c.2561C>G (p.Thr854Arg)
c.2543C>G (p.Thr848Arg)
c.2207C>G (p.Thr736Arg)
c.2213C>G (p.Thr738Arg)
c.2225C>G (p.Thr742Arg)
c.2195C>G (p.Thr732Arg)
4g.159341590C>TCA358591040RAPGEF2c.2078C>T (p.Thr693Ile)
c.2561C>T (p.Thr854Ile)
c.2543C>T (p.Thr848Ile)
c.2207C>T (p.Thr736Ile)
c.2213C>T (p.Thr738Ile)
c.2225C>T (p.Thr742Ile)
c.2195C>T (p.Thr732Ile)
4g.159341591A>CCA442144666RAPGEF2c.2079A>C (p.Thr693=)
c.2562A>C (p.Thr854=)
c.2544A>C (p.Thr848=)
c.2208A>C (p.Thr736=)
c.2214A>C (p.Thr738=)
c.2226A>C (p.Thr742=)
c.2196A>C (p.Thr732=)
4g.159341591A>GCA442144664RAPGEF2c.2079A>G (p.Thr693=)
c.2562A>G (p.Thr854=)
c.2544A>G (p.Thr848=)
c.2208A>G (p.Thr736=)
c.2214A>G (p.Thr738=)
c.2226A>G (p.Thr742=)
c.2196A>G (p.Thr732=)
4g.159341591A>TCA442144665RAPGEF2c.2079A>T (p.Thr693=)
c.2562A>T (p.Thr854=)
c.2544A>T (p.Thr848=)
c.2208A>T (p.Thr736=)
c.2214A>T (p.Thr738=)
c.2226A>T (p.Thr742=)
c.2196A>T (p.Thr732=)
4g.159341592_159341593delCA2672534869RAPGEF2c.2080_2081del (p.Glu694AsnfsTer6)
c.2563_2564del (p.Glu855AsnfsTer6)
c.2545_2546del (p.Glu849AsnfsTer6)
c.2209_2210del (p.Glu737AsnfsTer6)
c.2215_2216del (p.Glu739AsnfsTer6)
c.2227_2228del (p.Glu743AsnfsTer6)
c.2197_2198del (p.Glu733AsnfsTer6)
gnomAD v4
4g.159341592G>ACA358591041RAPGEF2c.2080G>A (p.Glu694Lys)
c.2563G>A (p.Glu855Lys)
c.2545G>A (p.Glu849Lys)
c.2209G>A (p.Glu737Lys)
c.2215G>A (p.Glu739Lys)
c.2227G>A (p.Glu743Lys)
c.2197G>A (p.Glu733Lys)
4g.159341592G>CCA358591042RAPGEF2c.2080G>C (p.Glu694Gln)
c.2563G>C (p.Glu855Gln)
c.2545G>C (p.Glu849Gln)
c.2209G>C (p.Glu737Gln)
c.2215G>C (p.Glu739Gln)
c.2227G>C (p.Glu743Gln)
c.2197G>C (p.Glu733Gln)
4g.159341592G>TCA358591043RAPGEF2c.2080G>T (p.Glu694Ter)
c.2563G>T (p.Glu855Ter)
c.2545G>T (p.Glu849Ter)
c.2209G>T (p.Glu737Ter)
c.2215G>T (p.Glu739Ter)
c.2227G>T (p.Glu743Ter)
c.2197G>T (p.Glu733Ter)
4g.159341593A>CCA358591044RAPGEF2c.2081A>C (p.Glu694Ala)
c.2564A>C (p.Glu855Ala)
c.2546A>C (p.Glu849Ala)
c.2210A>C (p.Glu737Ala)
c.2216A>C (p.Glu739Ala)
c.2228A>C (p.Glu743Ala)
c.2198A>C (p.Glu733Ala)
4g.159341593A>GCA358591045RAPGEF2c.2081A>G (p.Glu694Gly)
c.2564A>G (p.Glu855Gly)
c.2546A>G (p.Glu849Gly)
c.2210A>G (p.Glu737Gly)
c.2216A>G (p.Glu739Gly)
c.2228A>G (p.Glu743Gly)
c.2198A>G (p.Glu733Gly)
4g.159341593A>TCA358591046RAPGEF2c.2081A>T (p.Glu694Val)
c.2564A>T (p.Glu855Val)
c.2546A>T (p.Glu849Val)
c.2210A>T (p.Glu737Val)
c.2216A>T (p.Glu739Val)
c.2228A>T (p.Glu743Val)
c.2198A>T (p.Glu733Val)
4g.159341594A=CA1507167699RAPGEF2c.2082A= (p.Glu694=)
c.2565A= (p.Glu855=)
c.2547A= (p.Glu849=)
c.2211A= (p.Glu737=)
c.2217A= (p.Glu739=)
c.2229A= (p.Glu743=)
c.2199A= (p.Glu733=)
4g.159341594A>CCA358591047RAPGEF2c.2082A>C (p.Glu694Asp)
c.2565A>C (p.Glu855Asp)
c.2547A>C (p.Glu849Asp)
c.2211A>C (p.Glu737Asp)
c.2217A>C (p.Glu739Asp)
c.2229A>C (p.Glu743Asp)
c.2199A>C (p.Glu733Asp)
4g.159341594A>GCA442144667RAPGEF2c.2082A>G (p.Glu694=)
c.2565A>G (p.Glu855=)
c.2547A>G (p.Glu849=)
c.2211A>G (p.Glu737=)
c.2217A>G (p.Glu739=)
c.2229A>G (p.Glu743=)
c.2199A>G (p.Glu733=)
4g.159341594A>TCA358591048RAPGEF2c.2082A>T (p.Glu694Asp)
c.2565A>T (p.Glu855Asp)
c.2547A>T (p.Glu849Asp)
c.2211A>T (p.Glu737Asp)
c.2217A>T (p.Glu739Asp)
c.2229A>T (p.Glu743Asp)
c.2199A>T (p.Glu733Asp)
dbSNP
4g.159341595A>CCA358591050RAPGEF2c.2083A>C (p.Thr695Pro)
c.2566A>C (p.Thr856Pro)
c.2548A>C (p.Thr850Pro)
c.2212A>C (p.Thr738Pro)
c.2218A>C (p.Thr740Pro)
c.2230A>C (p.Thr744Pro)
c.2200A>C (p.Thr734Pro)
4g.159341595A>GCA358591051RAPGEF2c.2083A>G (p.Thr695Ala)
c.2566A>G (p.Thr856Ala)
c.2548A>G (p.Thr850Ala)
c.2212A>G (p.Thr738Ala)
c.2218A>G (p.Thr740Ala)
c.2230A>G (p.Thr744Ala)
c.2200A>G (p.Thr734Ala)
4g.159341595A>TCA358591049RAPGEF2c.2083A>T (p.Thr695Ser)
c.2566A>T (p.Thr856Ser)
c.2548A>T (p.Thr850Ser)
c.2212A>T (p.Thr738Ser)
c.2218A>T (p.Thr740Ser)
c.2230A>T (p.Thr744Ser)
c.2200A>T (p.Thr734Ser)
4g.159341596C>ACA358591052RAPGEF2c.2084C>A (p.Thr695Asn)
c.2567C>A (p.Thr856Asn)
c.2549C>A (p.Thr850Asn)
c.2213C>A (p.Thr738Asn)
c.2219C>A (p.Thr740Asn)
c.2231C>A (p.Thr744Asn)
c.2201C>A (p.Thr734Asn)
4g.159341596C>GCA358591053RAPGEF2c.2084C>G (p.Thr695Ser)
c.2567C>G (p.Thr856Ser)
c.2549C>G (p.Thr850Ser)
c.2213C>G (p.Thr738Ser)
c.2219C>G (p.Thr740Ser)
c.2231C>G (p.Thr744Ser)
c.2201C>G (p.Thr734Ser)
4g.159341596C>TCA358591054RAPGEF2c.2084C>T (p.Thr695Ile)
c.2567C>T (p.Thr856Ile)
c.2549C>T (p.Thr850Ile)
c.2213C>T (p.Thr738Ile)
c.2219C>T (p.Thr740Ile)
c.2231C>T (p.Thr744Ile)
c.2201C>T (p.Thr734Ile)
4g.159341597T>ACA442144668RAPGEF2c.2085T>A (p.Thr695=)
c.2568T>A (p.Thr856=)
c.2550T>A (p.Thr850=)
c.2214T>A (p.Thr738=)
c.2220T>A (p.Thr740=)
c.2232T>A (p.Thr744=)
c.2202T>A (p.Thr734=)
4g.159341597T>CCA442144669RAPGEF2c.2085T>C (p.Thr695=)
c.2568T>C (p.Thr856=)
c.2550T>C (p.Thr850=)
c.2214T>C (p.Thr738=)
c.2220T>C (p.Thr740=)
c.2232T>C (p.Thr744=)
c.2202T>C (p.Thr734=)
4g.159341597T>GCA442144670RAPGEF2c.2085T>G (p.Thr695=)
c.2568T>G (p.Thr856=)
c.2550T>G (p.Thr850=)
c.2214T>G (p.Thr738=)
c.2220T>G (p.Thr740=)
c.2232T>G (p.Thr744=)
c.2202T>G (p.Thr734=)
dbSNP gnomAD v4
4g.159341597T=CA1507167700RAPGEF2c.2085T= (p.Thr695=)
c.2568T= (p.Thr856=)
c.2550T= (p.Thr850=)
c.2214T= (p.Thr738=)
c.2220T= (p.Thr740=)
c.2232T= (p.Thr744=)
c.2202T= (p.Thr734=)
4g.159341598C>ACA358591055RAPGEF2c.2086C>A (p.Leu696Ile)
c.2569C>A (p.Leu857Ile)
c.2551C>A (p.Leu851Ile)
c.2215C>A (p.Leu739Ile)
c.2221C>A (p.Leu741Ile)
c.2233C>A (p.Leu745Ile)
c.2203C>A (p.Leu735Ile)
4g.159341598C>GCA358591056RAPGEF2c.2086C>G (p.Leu696Val)
c.2569C>G (p.Leu857Val)
c.2551C>G (p.Leu851Val)
c.2215C>G (p.Leu739Val)
c.2221C>G (p.Leu741Val)
c.2233C>G (p.Leu745Val)
c.2203C>G (p.Leu735Val)
4g.159341598C>TCA358591057RAPGEF2c.2086C>T (p.Leu696Phe)
c.2569C>T (p.Leu857Phe)
c.2551C>T (p.Leu851Phe)
c.2215C>T (p.Leu739Phe)
c.2221C>T (p.Leu741Phe)
c.2233C>T (p.Leu745Phe)
c.2203C>T (p.Leu735Phe)
4g.159341599T>ACA358591058RAPGEF2c.2087T>A (p.Leu696His)
c.2570T>A (p.Leu857His)
c.2552T>A (p.Leu851His)
c.2216T>A (p.Leu739His)
c.2222T>A (p.Leu741His)
c.2234T>A (p.Leu745His)
c.2204T>A (p.Leu735His)
4g.159341599T>CCA358591059RAPGEF2c.2087T>C (p.Leu696Pro)
c.2570T>C (p.Leu857Pro)
c.2552T>C (p.Leu851Pro)
c.2216T>C (p.Leu739Pro)
c.2222T>C (p.Leu741Pro)
c.2234T>C (p.Leu745Pro)
c.2204T>C (p.Leu735Pro)
4g.159341599T>GCA358591060RAPGEF2c.2087T>G (p.Leu696Arg)
c.2570T>G (p.Leu857Arg)
c.2552T>G (p.Leu851Arg)
c.2216T>G (p.Leu739Arg)
c.2222T>G (p.Leu741Arg)
c.2234T>G (p.Leu745Arg)
c.2204T>G (p.Leu735Arg)
4g.159341600T>ACA442144671RAPGEF2c.2088T>A (p.Leu696=)
c.2571T>A (p.Leu857=)
c.2553T>A (p.Leu851=)
c.2217T>A (p.Leu739=)
c.2223T>A (p.Leu741=)
c.2235T>A (p.Leu745=)
c.2205T>A (p.Leu735=)
4g.159341600T>CCA442144672RAPGEF2c.2088T>C (p.Leu696=)
c.2571T>C (p.Leu857=)
c.2553T>C (p.Leu851=)
c.2217T>C (p.Leu739=)
c.2223T>C (p.Leu741=)
c.2235T>C (p.Leu745=)
c.2205T>C (p.Leu735=)
dbSNP gnomAD v4
4g.159341600T>GCA442144673RAPGEF2c.2088T>G (p.Leu696=)
c.2571T>G (p.Leu857=)
c.2553T>G (p.Leu851=)
c.2217T>G (p.Leu739=)
c.2223T>G (p.Leu741=)
c.2235T>G (p.Leu745=)
c.2205T>G (p.Leu735=)
4g.159341600T=CA1507167701RAPGEF2c.2088T= (p.Leu696=)
c.2571T= (p.Leu857=)
c.2553T= (p.Leu851=)
c.2217T= (p.Leu739=)
c.2223T= (p.Leu741=)
c.2235T= (p.Leu745=)
c.2205T= (p.Leu735=)
4g.159341601T>ACA358591061RAPGEF2c.2089T>A (p.Cys697Ser)
c.2572T>A (p.Cys858Ser)
c.2554T>A (p.Cys852Ser)
c.2218T>A (p.Cys740Ser)
c.2224T>A (p.Cys742Ser)
c.2236T>A (p.Cys746Ser)
c.2206T>A (p.Cys736Ser)
4g.159341601T>CCA358591062RAPGEF2c.2089T>C (p.Cys697Arg)
c.2572T>C (p.Cys858Arg)
c.2554T>C (p.Cys852Arg)
c.2218T>C (p.Cys740Arg)
c.2224T>C (p.Cys742Arg)
c.2236T>C (p.Cys746Arg)
c.2206T>C (p.Cys736Arg)
4g.159341601T>GCA358591063RAPGEF2c.2089T>G (p.Cys697Gly)
c.2572T>G (p.Cys858Gly)
c.2554T>G (p.Cys852Gly)
c.2218T>G (p.Cys740Gly)
c.2224T>G (p.Cys742Gly)
c.2236T>G (p.Cys746Gly)
c.2206T>G (p.Cys736Gly)
4g.159341602G>ACA358591065RAPGEF2c.2090G>A (p.Cys697Tyr)
c.2573G>A (p.Cys858Tyr)
c.2555G>A (p.Cys852Tyr)
c.2219G>A (p.Cys740Tyr)
c.2225G>A (p.Cys742Tyr)
c.2237G>A (p.Cys746Tyr)
c.2207G>A (p.Cys736Tyr)
4g.159341602G>CCA358591066RAPGEF2c.2090G>C (p.Cys697Ser)
c.2573G>C (p.Cys858Ser)
c.2555G>C (p.Cys852Ser)
c.2219G>C (p.Cys740Ser)
c.2225G>C (p.Cys742Ser)
c.2237G>C (p.Cys746Ser)
c.2207G>C (p.Cys736Ser)
4g.159341602G>TCA358591064RAPGEF2c.2090G>T (p.Cys697Phe)
c.2573G>T (p.Cys858Phe)
c.2555G>T (p.Cys852Phe)
c.2219G>T (p.Cys740Phe)
c.2225G>T (p.Cys742Phe)
c.2237G>T (p.Cys746Phe)
c.2207G>T (p.Cys736Phe)
4g.159341603T>ACA358591067RAPGEF2c.2091T>A (p.Cys697Ter)
c.2574T>A (p.Cys858Ter)
c.2556T>A (p.Cys852Ter)
c.2220T>A (p.Cys740Ter)
c.2226T>A (p.Cys742Ter)
c.2238T>A (p.Cys746Ter)
c.2208T>A (p.Cys736Ter)
4g.159341603T>CCA442144674RAPGEF2c.2091T>C (p.Cys697=)
c.2574T>C (p.Cys858=)
c.2556T>C (p.Cys852=)
c.2220T>C (p.Cys740=)
c.2226T>C (p.Cys742=)
c.2238T>C (p.Cys746=)
c.2208T>C (p.Cys736=)
4g.159341603T>GCA358591068RAPGEF2c.2091T>G (p.Cys697Trp)
c.2574T>G (p.Cys858Trp)
c.2556T>G (p.Cys852Trp)
c.2220T>G (p.Cys740Trp)
c.2226T>G (p.Cys742Trp)
c.2238T>G (p.Cys746Trp)
c.2208T>G (p.Cys736Trp)
4g.159341604T>ACA358591069RAPGEF2c.2092T>A (p.Ser698Thr)
c.2575T>A (p.Ser859Thr)
c.2557T>A (p.Ser853Thr)
c.2221T>A (p.Ser741Thr)
c.2227T>A (p.Ser743Thr)
c.2239T>A (p.Ser747Thr)
c.2209T>A (p.Ser737Thr)
4g.159341604T>CCA358591070RAPGEF2c.2092T>C (p.Ser698Pro)
c.2575T>C (p.Ser859Pro)
c.2557T>C (p.Ser853Pro)
c.2221T>C (p.Ser741Pro)
c.2227T>C (p.Ser743Pro)
c.2239T>C (p.Ser747Pro)
c.2209T>C (p.Ser737Pro)
4g.159341604T>GCA358591071RAPGEF2c.2092T>G (p.Ser698Ala)
c.2575T>G (p.Ser859Ala)
c.2557T>G (p.Ser853Ala)
c.2221T>G (p.Ser741Ala)
c.2227T>G (p.Ser743Ala)
c.2239T>G (p.Ser747Ala)
c.2209T>G (p.Ser737Ala)
4g.159341605C>ACA358591073RAPGEF2c.2093C>A (p.Ser698Ter)
c.2576C>A (p.Ser859Ter)
c.2558C>A (p.Ser853Ter)
c.2222C>A (p.Ser741Ter)
c.2228C>A (p.Ser743Ter)
c.2240C>A (p.Ser747Ter)
c.2210C>A (p.Ser737Ter)
4g.159341605C=CA1507167702RAPGEF2c.2093C= (p.Ser698=)
c.2576C= (p.Ser859=)
c.2558C= (p.Ser853=)
c.2222C= (p.Ser741=)
c.2228C= (p.Ser743=)
c.2240C= (p.Ser747=)
c.2210C= (p.Ser737=)
4g.159341605C>GCA108901819RAPGEF2c.2093C>G (p.Ser698Ter)
c.2576C>G (p.Ser859Ter)
c.2558C>G (p.Ser853Ter)
c.2222C>G (p.Ser741Ter)
c.2228C>G (p.Ser743Ter)
c.2240C>G (p.Ser747Ter)
c.2210C>G (p.Ser737Ter)
dbSNP
4g.159341605C>TCA358591072RAPGEF2c.2093C>T (p.Ser698Leu)
c.2576C>T (p.Ser859Leu)
c.2558C>T (p.Ser853Leu)
c.2222C>T (p.Ser741Leu)
c.2228C>T (p.Ser743Leu)
c.2240C>T (p.Ser747Leu)
c.2210C>T (p.Ser737Leu)
4g.159341606A>CCA442144675RAPGEF2c.2094A>C (p.Ser698=)
c.2577A>C (p.Ser859=)
c.2559A>C (p.Ser853=)
c.2223A>C (p.Ser741=)
c.2229A>C (p.Ser743=)
c.2241A>C (p.Ser747=)
c.2211A>C (p.Ser737=)
4g.159341606A>GCA442144676RAPGEF2c.2094A>G (p.Ser698=)
c.2577A>G (p.Ser859=)
c.2559A>G (p.Ser853=)
c.2223A>G (p.Ser741=)
c.2229A>G (p.Ser743=)
c.2241A>G (p.Ser747=)
c.2211A>G (p.Ser737=)
4g.159341606A>TCA442144677RAPGEF2c.2094A>T (p.Ser698=)
c.2577A>T (p.Ser859=)
c.2559A>T (p.Ser853=)
c.2223A>T (p.Ser741=)
c.2229A>T (p.Ser743=)
c.2241A>T (p.Ser747=)
c.2211A>T (p.Ser737=)
4g.159341607G>ACA358591074RAPGEF2c.2095G>A (p.Asp699Asn)
c.2578G>A (p.Asp860Asn)
c.2560G>A (p.Asp854Asn)
c.2224G>A (p.Asp742Asn)
c.2230G>A (p.Asp744Asn)
c.2242G>A (p.Asp748Asn)
c.2212G>A (p.Asp738Asn)
4g.159341607G>CCA358591075RAPGEF2c.2095G>C (p.Asp699His)
c.2578G>C (p.Asp860His)
c.2560G>C (p.Asp854His)
c.2224G>C (p.Asp742His)
c.2230G>C (p.Asp744His)
c.2242G>C (p.Asp748His)
c.2212G>C (p.Asp738His)
4g.159341607G>TCA358591076RAPGEF2c.2095G>T (p.Asp699Tyr)
c.2578G>T (p.Asp860Tyr)
c.2560G>T (p.Asp854Tyr)
c.2224G>T (p.Asp742Tyr)
c.2230G>T (p.Asp744Tyr)
c.2242G>T (p.Asp748Tyr)
c.2212G>T (p.Asp738Tyr)
4g.159341608A=CA1507167703RAPGEF2c.2096A= (p.Asp699=)
c.2579A= (p.Asp860=)
c.2561A= (p.Asp854=)
c.2225A= (p.Asp742=)
c.2231A= (p.Asp744=)
c.2243A= (p.Asp748=)
c.2213A= (p.Asp738=)
4g.159341608A>CCA358591077RAPGEF2c.2096A>C (p.Asp699Ala)
c.2579A>C (p.Asp860Ala)
c.2561A>C (p.Asp854Ala)
c.2225A>C (p.Asp742Ala)
c.2231A>C (p.Asp744Ala)
c.2243A>C (p.Asp748Ala)
c.2213A>C (p.Asp738Ala)
4g.159341608A>GCA358591078RAPGEF2c.2096A>G (p.Asp699Gly)
c.2579A>G (p.Asp860Gly)
c.2561A>G (p.Asp854Gly)
c.2225A>G (p.Asp742Gly)
c.2231A>G (p.Asp744Gly)
c.2243A>G (p.Asp748Gly)
c.2213A>G (p.Asp738Gly)
4g.159341608A>TCA358591079RAPGEF2c.2096A>T (p.Asp699Val)
c.2579A>T (p.Asp860Val)
c.2561A>T (p.Asp854Val)
c.2225A>T (p.Asp742Val)
c.2231A>T (p.Asp744Val)
c.2243A>T (p.Asp748Val)
c.2213A>T (p.Asp738Val)
dbSNP
4g.159341609T>ACA358591080RAPGEF2c.2097T>A (p.Asp699Glu)
c.2580T>A (p.Asp860Glu)
c.2562T>A (p.Asp854Glu)
c.2226T>A (p.Asp742Glu)
c.2232T>A (p.Asp744Glu)
c.2244T>A (p.Asp748Glu)
c.2214T>A (p.Asp738Glu)
4g.159341609T>CCA442144678RAPGEF2c.2097T>C (p.Asp699=)
c.2580T>C (p.Asp860=)
c.2562T>C (p.Asp854=)
c.2226T>C (p.Asp742=)
c.2232T>C (p.Asp744=)
c.2244T>C (p.Asp748=)
c.2214T>C (p.Asp738=)
4g.159341609T>GCA358591081RAPGEF2c.2097T>G (p.Asp699Glu)
c.2580T>G (p.Asp860Glu)
c.2562T>G (p.Asp854Glu)
c.2226T>G (p.Asp742Glu)
c.2232T>G (p.Asp744Glu)
c.2244T>G (p.Asp748Glu)
c.2214T>G (p.Asp738Glu)
4g.159341610G>ACA358591082RAPGEF2c.2098G>A (p.Glu700Lys)
c.2581G>A (p.Glu861Lys)
c.2563G>A (p.Glu855Lys)
c.2227G>A (p.Glu743Lys)
c.2233G>A (p.Glu745Lys)
c.2245G>A (p.Glu749Lys)
c.2215G>A (p.Glu739Lys)
COSMIC
4g.159341610G>CCA358591083RAPGEF2c.2098G>C (p.Glu700Gln)
c.2581G>C (p.Glu861Gln)
c.2563G>C (p.Glu855Gln)
c.2227G>C (p.Glu743Gln)
c.2233G>C (p.Glu745Gln)
c.2245G>C (p.Glu749Gln)
c.2215G>C (p.Glu739Gln)
4g.159341610G>TCA358591084RAPGEF2c.2098G>T (p.Glu700Ter)
c.2581G>T (p.Glu861Ter)
c.2563G>T (p.Glu855Ter)
c.2227G>T (p.Glu743Ter)
c.2233G>T (p.Glu745Ter)
c.2245G>T (p.Glu749Ter)
c.2215G>T (p.Glu739Ter)
4g.159341611A>CCA358591085RAPGEF2c.2099A>C (p.Glu700Ala)
c.2582A>C (p.Glu861Ala)
c.2564A>C (p.Glu855Ala)
c.2228A>C (p.Glu743Ala)
c.2234A>C (p.Glu745Ala)
c.2246A>C (p.Glu749Ala)
c.2216A>C (p.Glu739Ala)
4g.159341611A>GCA358591086RAPGEF2c.2099A>G (p.Glu700Gly)
c.2582A>G (p.Glu861Gly)
c.2564A>G (p.Glu855Gly)
c.2228A>G (p.Glu743Gly)
c.2234A>G (p.Glu745Gly)
c.2246A>G (p.Glu749Gly)
c.2216A>G (p.Glu739Gly)
4g.159341611A>TCA358591087RAPGEF2c.2099A>T (p.Glu700Val)
c.2582A>T (p.Glu861Val)
c.2564A>T (p.Glu855Val)
c.2228A>T (p.Glu743Val)
c.2234A>T (p.Glu745Val)
c.2246A>T (p.Glu749Val)
c.2216A>T (p.Glu739Val)
4g.159341612A>CCA358591088RAPGEF2c.2100A>C (p.Glu700Asp)
c.2583A>C (p.Glu861Asp)
c.2565A>C (p.Glu855Asp)
c.2229A>C (p.Glu743Asp)
c.2235A>C (p.Glu745Asp)
c.2247A>C (p.Glu749Asp)
c.2217A>C (p.Glu739Asp)
4g.159341612A>GCA442144679RAPGEF2c.2100A>G (p.Glu700=)
c.2583A>G (p.Glu861=)
c.2565A>G (p.Glu855=)
c.2229A>G (p.Glu743=)
c.2235A>G (p.Glu745=)
c.2247A>G (p.Glu749=)
c.2217A>G (p.Glu739=)
4g.159341612A>TCA358591089RAPGEF2c.2100A>T (p.Glu700Asp)
c.2583A>T (p.Glu861Asp)
c.2565A>T (p.Glu855Asp)
c.2229A>T (p.Glu743Asp)
c.2235A>T (p.Glu745Asp)
c.2247A>T (p.Glu749Asp)
c.2217A>T (p.Glu739Asp)
4g.159341613G>ACA358591090RAPGEF2c.2101G>A (p.Asp701Asn)
c.2584G>A (p.Asp862Asn)
c.2566G>A (p.Asp856Asn)
c.2230G>A (p.Asp744Asn)
c.2236G>A (p.Asp746Asn)
c.2248G>A (p.Asp750Asn)
c.2218G>A (p.Asp740Asn)
4g.159341613G>CCA358591091RAPGEF2c.2101G>C (p.Asp701His)
c.2584G>C (p.Asp862His)
c.2566G>C (p.Asp856His)
c.2230G>C (p.Asp744His)
c.2236G>C (p.Asp746His)
c.2248G>C (p.Asp750His)
c.2218G>C (p.Asp740His)
4g.159341613G>TCA358591092RAPGEF2c.2101G>T (p.Asp701Tyr)
c.2584G>T (p.Asp862Tyr)
c.2566G>T (p.Asp856Tyr)
c.2230G>T (p.Asp744Tyr)
c.2236G>T (p.Asp746Tyr)
c.2248G>T (p.Asp750Tyr)
c.2218G>T (p.Asp740Tyr)
4g.159341614A>CCA358591093RAPGEF2c.2102A>C (p.Asp701Ala)
c.2585A>C (p.Asp862Ala)
c.2567A>C (p.Asp856Ala)
c.2231A>C (p.Asp744Ala)
c.2237A>C (p.Asp746Ala)
c.2249A>C (p.Asp750Ala)
c.2219A>C (p.Asp740Ala)
4g.159341614A>GCA358591094RAPGEF2c.2102A>G (p.Asp701Gly)
c.2585A>G (p.Asp862Gly)
c.2567A>G (p.Asp856Gly)
c.2231A>G (p.Asp744Gly)
c.2237A>G (p.Asp746Gly)
c.2249A>G (p.Asp750Gly)
c.2219A>G (p.Asp740Gly)
4g.159341614A>TCA358591095RAPGEF2c.2102A>T (p.Asp701Val)
c.2585A>T (p.Asp862Val)
c.2567A>T (p.Asp856Val)
c.2231A>T (p.Asp744Val)
c.2237A>T (p.Asp746Val)
c.2249A>T (p.Asp750Val)
c.2219A>T (p.Asp740Val)
4g.159341615T>ACA358591097RAPGEF2c.2103T>A (p.Asp701Glu)
c.2586T>A (p.Asp862Glu)
c.2568T>A (p.Asp856Glu)
c.2232T>A (p.Asp744Glu)
c.2238T>A (p.Asp746Glu)
c.2250T>A (p.Asp750Glu)
c.2220T>A (p.Asp740Glu)
4g.159341615T>CCA442144680RAPGEF2c.2103T>C (p.Asp701=)
c.2586T>C (p.Asp862=)
c.2568T>C (p.Asp856=)
c.2232T>C (p.Asp744=)
c.2238T>C (p.Asp746=)
c.2250T>C (p.Asp750=)
c.2220T>C (p.Asp740=)
dbSNP
4g.159341615T>GCA358591096RAPGEF2c.2103T>G (p.Asp701Glu)
c.2586T>G (p.Asp862Glu)
c.2568T>G (p.Asp856Glu)
c.2232T>G (p.Asp744Glu)
c.2238T>G (p.Asp746Glu)
c.2250T>G (p.Asp750Glu)
c.2220T>G (p.Asp740Glu)
4g.159341615T=CA1507167704RAPGEF2c.2103T= (p.Asp701=)
c.2586T= (p.Asp862=)
c.2568T= (p.Asp856=)
c.2232T= (p.Asp744=)
c.2238T= (p.Asp746=)
c.2250T= (p.Asp750=)
c.2220T= (p.Asp740=)
4g.159341616G>ACA358591098RAPGEF2c.2104G>A (p.Ala702Thr)
c.2587G>A (p.Ala863Thr)
c.2569G>A (p.Ala857Thr)
c.2233G>A (p.Ala745Thr)
c.2239G>A (p.Ala747Thr)
c.2251G>A (p.Ala751Thr)
c.2221G>A (p.Ala741Thr)
4g.159341616G>CCA358591099RAPGEF2c.2104G>C (p.Ala702Pro)
c.2587G>C (p.Ala863Pro)
c.2569G>C (p.Ala857Pro)
c.2233G>C (p.Ala745Pro)
c.2239G>C (p.Ala747Pro)
c.2251G>C (p.Ala751Pro)
c.2221G>C (p.Ala741Pro)
4g.159341616G=CA1507167705RAPGEF2c.2104G= (p.Ala702=)
c.2587G= (p.Ala863=)
c.2569G= (p.Ala857=)
c.2233G= (p.Ala745=)
c.2239G= (p.Ala747=)
c.2251G= (p.Ala751=)
c.2221G= (p.Ala741=)
4g.159341616G>TCA358591100RAPGEF2c.2104G>T (p.Ala702Ser)
c.2587G>T (p.Ala863Ser)
c.2569G>T (p.Ala857Ser)
c.2233G>T (p.Ala745Ser)
c.2239G>T (p.Ala747Ser)
c.2251G>T (p.Ala751Ser)
c.2221G>T (p.Ala741Ser)
dbSNP gnomAD v3 gnomAD v4
4g.159341617C>ACA3124790RAPGEF2c.2105C>A (p.Ala702Asp)
c.2588C>A (p.Ala863Asp)
c.2570C>A (p.Ala857Asp)
c.2234C>A (p.Ala745Asp)
c.2240C>A (p.Ala747Asp)
c.2252C>A (p.Ala751Asp)
c.2222C>A (p.Ala741Asp)
dbSNP ExAC
4g.159341617C=CA1507167706RAPGEF2c.2105C= (p.Ala702=)
c.2588C= (p.Ala863=)
c.2570C= (p.Ala857=)
c.2234C= (p.Ala745=)
c.2240C= (p.Ala747=)
c.2252C= (p.Ala751=)
c.2222C= (p.Ala741=)
4g.159341617C>GCA3124789RAPGEF2c.2105C>G (p.Ala702Gly)
c.2588C>G (p.Ala863Gly)
c.2570C>G (p.Ala857Gly)
c.2234C>G (p.Ala745Gly)
c.2240C>G (p.Ala747Gly)
c.2252C>G (p.Ala751Gly)
c.2222C>G (p.Ala741Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.159341617C>TCA358591101RAPGEF2c.2105C>T (p.Ala702Val)
c.2588C>T (p.Ala863Val)
c.2570C>T (p.Ala857Val)
c.2234C>T (p.Ala745Val)
c.2240C>T (p.Ala747Val)
c.2252C>T (p.Ala751Val)
c.2222C>T (p.Ala741Val)
4g.159341618T>ACA442144681RAPGEF2c.2106T>A (p.Ala702=)
c.2589T>A (p.Ala863=)
c.2571T>A (p.Ala857=)
c.2235T>A (p.Ala745=)
c.2241T>A (p.Ala747=)
c.2253T>A (p.Ala751=)
c.2223T>A (p.Ala741=)
4g.159341618T>CCA442144682RAPGEF2c.2106T>C (p.Ala702=)
c.2589T>C (p.Ala863=)
c.2571T>C (p.Ala857=)
c.2235T>C (p.Ala745=)
c.2241T>C (p.Ala747=)
c.2253T>C (p.Ala751=)
c.2223T>C (p.Ala741=)
4g.159341618T>GCA442144683RAPGEF2c.2106T>G (p.Ala702=)
c.2589T>G (p.Ala863=)
c.2571T>G (p.Ala857=)
c.2235T>G (p.Ala745=)
c.2241T>G (p.Ala747=)
c.2253T>G (p.Ala751=)
c.2223T>G (p.Ala741=)
4g.159341619C>ACA358591104RAPGEF2c.2107C>A (p.Gln703Lys)
c.2590C>A (p.Gln864Lys)
c.2572C>A (p.Gln858Lys)
c.2236C>A (p.Gln746Lys)
c.2242C>A (p.Gln748Lys)
c.2254C>A (p.Gln752Lys)
c.2224C>A (p.Gln742Lys)
gnomAD v4
4g.159341619C>GCA358591102RAPGEF2c.2107C>G (p.Gln703Glu)
c.2590C>G (p.Gln864Glu)
c.2572C>G (p.Gln858Glu)
c.2236C>G (p.Gln746Glu)
c.2242C>G (p.Gln748Glu)
c.2254C>G (p.Gln752Glu)
c.2224C>G (p.Gln742Glu)
4g.159341619C>TCA358591103RAPGEF2c.2107C>T (p.Gln703Ter)
c.2590C>T (p.Gln864Ter)
c.2572C>T (p.Gln858Ter)
c.2236C>T (p.Gln746Ter)
c.2242C>T (p.Gln748Ter)
c.2254C>T (p.Gln752Ter)
c.2224C>T (p.Gln742Ter)
4g.159341620A=CA1507167707RAPGEF2c.2108A= (p.Gln703=)
c.2591A= (p.Gln864=)
c.2573A= (p.Gln858=)
c.2237A= (p.Gln746=)
c.2243A= (p.Gln748=)
c.2255A= (p.Gln752=)
c.2225A= (p.Gln742=)
4g.159341620A>CCA358591105RAPGEF2c.2108A>C (p.Gln703Pro)
c.2591A>C (p.Gln864Pro)
c.2573A>C (p.Gln858Pro)
c.2237A>C (p.Gln746Pro)
c.2243A>C (p.Gln748Pro)
c.2255A>C (p.Gln752Pro)
c.2225A>C (p.Gln742Pro)
4g.159341620A>GCA108901825RAPGEF2c.2108A>G (p.Gln703Arg)
c.2591A>G (p.Gln864Arg)
c.2573A>G (p.Gln858Arg)
c.2237A>G (p.Gln746Arg)
c.2243A>G (p.Gln748Arg)
c.2255A>G (p.Gln752Arg)
c.2225A>G (p.Gln742Arg)
dbSNP gnomAD v2 gnomAD v4
4g.159341620A>TCA358591106RAPGEF2c.2108A>T (p.Gln703Leu)
c.2591A>T (p.Gln864Leu)
c.2573A>T (p.Gln858Leu)
c.2237A>T (p.Gln746Leu)
c.2243A>T (p.Gln748Leu)
c.2255A>T (p.Gln752Leu)
c.2225A>T (p.Gln742Leu)
4g.159341621G>ACA442144684RAPGEF2c.2109G>A (p.Gln703=)
c.2592G>A (p.Gln864=)
c.2574G>A (p.Gln858=)
c.2238G>A (p.Gln746=)
c.2244G>A (p.Gln748=)
c.2256G>A (p.Gln752=)
c.2226G>A (p.Gln742=)
gnomAD v4
4g.159341621G>CCA358591107RAPGEF2c.2109G>C (p.Gln703His)
c.2592G>C (p.Gln864His)
c.2574G>C (p.Gln858His)
c.2238G>C (p.Gln746His)
c.2244G>C (p.Gln748His)
c.2256G>C (p.Gln752His)
c.2226G>C (p.Gln742His)
4g.159341621G>TCA358591108RAPGEF2c.2109G>T (p.Gln703His)
c.2592G>T (p.Gln864His)
c.2574G>T (p.Gln858His)
c.2238G>T (p.Gln746His)
c.2244G>T (p.Gln748His)
c.2256G>T (p.Gln752His)
c.2226G>T (p.Gln742His)
4g.159341622G>ACA358591109RAPGEF2c.2110G>A (p.Glu704Lys)
c.2593G>A (p.Glu865Lys)
c.2575G>A (p.Glu859Lys)
c.2239G>A (p.Glu747Lys)
c.2245G>A (p.Glu749Lys)
c.2257G>A (p.Glu753Lys)
c.2227G>A (p.Glu743Lys)
4g.159341622G>CCA358591111RAPGEF2c.2110G>C (p.Glu704Gln)
c.2593G>C (p.Glu865Gln)
c.2575G>C (p.Glu859Gln)
c.2239G>C (p.Glu747Gln)
c.2245G>C (p.Glu749Gln)
c.2257G>C (p.Glu753Gln)
c.2227G>C (p.Glu743Gln)
4g.159341622G>TCA358591110RAPGEF2c.2110G>T (p.Glu704Ter)
c.2593G>T (p.Glu865Ter)
c.2575G>T (p.Glu859Ter)
c.2239G>T (p.Glu747Ter)
c.2245G>T (p.Glu749Ter)
c.2257G>T (p.Glu753Ter)
c.2227G>T (p.Glu743Ter)
4g.159341623A>CCA358591112RAPGEF2c.2111A>C (p.Glu704Ala)
c.2594A>C (p.Glu865Ala)
c.2576A>C (p.Glu859Ala)
c.2240A>C (p.Glu747Ala)
c.2246A>C (p.Glu749Ala)
c.2258A>C (p.Glu753Ala)
c.2228A>C (p.Glu743Ala)
4g.159341623A>GCA358591113RAPGEF2c.2111A>G (p.Glu704Gly)
c.2594A>G (p.Glu865Gly)
c.2576A>G (p.Glu859Gly)
c.2240A>G (p.Glu747Gly)
c.2246A>G (p.Glu749Gly)
c.2258A>G (p.Glu753Gly)
c.2228A>G (p.Glu743Gly)
4g.159341623A>TCA358591114RAPGEF2c.2111A>T (p.Glu704Val)
c.2594A>T (p.Glu865Val)
c.2576A>T (p.Glu859Val)
c.2240A>T (p.Glu747Val)
c.2246A>T (p.Glu749Val)
c.2258A>T (p.Glu753Val)
c.2228A>T (p.Glu743Val)
4g.159341624G>ACA442144685RAPGEF2c.2112G>A (p.Glu704=)
c.2595G>A (p.Glu865=)
c.2577G>A (p.Glu859=)
c.2241G>A (p.Glu747=)
c.2247G>A (p.Glu749=)
c.2259G>A (p.Glu753=)
c.2229G>A (p.Glu743=)
gnomAD v3 gnomAD v4
4g.159341624G>CCA358591115RAPGEF2c.2112G>C (p.Glu704Asp)
c.2595G>C (p.Glu865Asp)
c.2577G>C (p.Glu859Asp)
c.2241G>C (p.Glu747Asp)
c.2247G>C (p.Glu749Asp)
c.2259G>C (p.Glu753Asp)
c.2229G>C (p.Glu743Asp)
4g.159341624G>TCA358591116RAPGEF2c.2112G>T (p.Glu704Asp)
c.2595G>T (p.Glu865Asp)
c.2577G>T (p.Glu859Asp)
c.2241G>T (p.Glu747Asp)
c.2247G>T (p.Glu749Asp)
c.2259G>T (p.Glu753Asp)
c.2229G>T (p.Glu743Asp)
4g.159341628_159341630delCA2672534889RAPGEF2c.2116_2118del (p.Leu706del)
c.2599_2601del (p.Leu867del)
c.2581_2583del (p.Leu861del)
c.2245_2247del (p.Leu749del)
c.2251_2253del (p.Leu751del)
c.2263_2265del (p.Leu755del)
c.2233_2235del (p.Leu745del)
gnomAD v4
4g.159341625T>ACA358591117RAPGEF2c.2113T>A (p.Leu705Met)
c.2596T>A (p.Leu866Met)
c.2578T>A (p.Leu860Met)
c.2242T>A (p.Leu748Met)
c.2248T>A (p.Leu750Met)
c.2260T>A (p.Leu754Met)
c.2230T>A (p.Leu744Met)
4g.159341625T>CCA442144686RAPGEF2c.2113T>C (p.Leu705=)
c.2596T>C (p.Leu866=)
c.2578T>C (p.Leu860=)
c.2242T>C (p.Leu748=)
c.2248T>C (p.Leu750=)
c.2260T>C (p.Leu754=)
c.2230T>C (p.Leu744=)
4g.159341625T>GCA358591118RAPGEF2c.2113T>G (p.Leu705Val)
c.2596T>G (p.Leu866Val)
c.2578T>G (p.Leu860Val)
c.2242T>G (p.Leu748Val)
c.2248T>G (p.Leu750Val)
c.2260T>G (p.Leu754Val)
c.2230T>G (p.Leu744Val)
4g.159341626T>ACA358591119RAPGEF2c.2114T>A (p.Leu705Ter)
c.2597T>A (p.Leu866Ter)
c.2579T>A (p.Leu860Ter)
c.2243T>A (p.Leu748Ter)
c.2249T>A (p.Leu750Ter)
c.2261T>A (p.Leu754Ter)
c.2231T>A (p.Leu744Ter)
4g.159341626T>CCA358591120RAPGEF2c.2114T>C (p.Leu705Ser)
c.2597T>C (p.Leu866Ser)
c.2579T>C (p.Leu860Ser)
c.2243T>C (p.Leu748Ser)
c.2249T>C (p.Leu750Ser)
c.2261T>C (p.Leu754Ser)
c.2231T>C (p.Leu744Ser)
4g.159341626T>GCA358591121RAPGEF2c.2114T>G (p.Leu705Trp)
c.2597T>G (p.Leu866Trp)
c.2579T>G (p.Leu860Trp)
c.2243T>G (p.Leu748Trp)
c.2249T>G (p.Leu750Trp)
c.2261T>G (p.Leu754Trp)
c.2231T>G (p.Leu744Trp)
4g.159341627G>ACA442144687RAPGEF2c.2115G>A (p.Leu705=)
c.2598G>A (p.Leu866=)
c.2580G>A (p.Leu860=)
c.2244G>A (p.Leu748=)
c.2250G>A (p.Leu750=)
c.2262G>A (p.Leu754=)
c.2232G>A (p.Leu744=)
4g.159341627G>CCA358591122RAPGEF2c.2115G>C (p.Leu705Phe)
c.2598G>C (p.Leu866Phe)
c.2580G>C (p.Leu860Phe)
c.2244G>C (p.Leu748Phe)
c.2250G>C (p.Leu750Phe)
c.2262G>C (p.Leu754Phe)
c.2232G>C (p.Leu744Phe)
4g.159341627G>TCA358591123RAPGEF2c.2115G>T (p.Leu705Phe)
c.2598G>T (p.Leu866Phe)
c.2580G>T (p.Leu860Phe)
c.2244G>T (p.Leu748Phe)
c.2250G>T (p.Leu750Phe)
c.2262G>T (p.Leu754Phe)
c.2232G>T (p.Leu744Phe)
4g.159341628T>ACA358591125RAPGEF2c.2116T>A (p.Leu706Met)
c.2599T>A (p.Leu867Met)
c.2581T>A (p.Leu861Met)
c.2245T>A (p.Leu749Met)
c.2251T>A (p.Leu751Met)
c.2263T>A (p.Leu755Met)
c.2233T>A (p.Leu745Met)
4g.159341628T>CCA3124791RAPGEF2c.2116T>C (p.Leu706=)
c.2599T>C (p.Leu867=)
c.2581T>C (p.Leu861=)
c.2245T>C (p.Leu749=)
c.2251T>C (p.Leu751=)
c.2263T>C (p.Leu755=)
c.2233T>C (p.Leu745=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.159341628T>GCA358591124RAPGEF2c.2116T>G (p.Leu706Val)
c.2599T>G (p.Leu867Val)
c.2581T>G (p.Leu861Val)
c.2245T>G (p.Leu749Val)
c.2251T>G (p.Leu751Val)
c.2263T>G (p.Leu755Val)
c.2233T>G (p.Leu745Val)
4g.159341628T=CA1507167708RAPGEF2c.2116T= (p.Leu706=)
c.2599T= (p.Leu867=)
c.2581T= (p.Leu861=)
c.2245T= (p.Leu749=)
c.2251T= (p.Leu751=)
c.2263T= (p.Leu755=)
c.2233T= (p.Leu745=)
4g.159341629T>ACA358591126RAPGEF2c.2117T>A (p.Leu706Ter)
c.2600T>A (p.Leu867Ter)
c.2582T>A (p.Leu861Ter)
c.2246T>A (p.Leu749Ter)
c.2252T>A (p.Leu751Ter)
c.2264T>A (p.Leu755Ter)
c.2234T>A (p.Leu745Ter)
4g.159341629T>CCA358591127RAPGEF2c.2117T>C (p.Leu706Ser)
c.2600T>C (p.Leu867Ser)
c.2582T>C (p.Leu861Ser)
c.2246T>C (p.Leu749Ser)
c.2252T>C (p.Leu751Ser)
c.2264T>C (p.Leu755Ser)
c.2234T>C (p.Leu745Ser)
4g.159341629T>GCA358591128RAPGEF2c.2117T>G (p.Leu706Trp)
c.2600T>G (p.Leu867Trp)
c.2582T>G (p.Leu861Trp)
c.2246T>G (p.Leu749Trp)
c.2252T>G (p.Leu751Trp)
c.2264T>G (p.Leu755Trp)
c.2234T>G (p.Leu745Trp)
gnomAD v4
4g.159341630G>ACA442144688RAPGEF2c.2118G>A (p.Leu706=)
c.2601G>A (p.Leu867=)
c.2583G>A (p.Leu861=)
c.2247G>A (p.Leu749=)
c.2253G>A (p.Leu751=)
c.2265G>A (p.Leu755=)
c.2235G>A (p.Leu745=)
4g.159341630G>CCA358591129RAPGEF2c.2118G>C (p.Leu706Phe)
c.2601G>C (p.Leu867Phe)
c.2583G>C (p.Leu861Phe)
c.2247G>C (p.Leu749Phe)
c.2253G>C (p.Leu751Phe)
c.2265G>C (p.Leu755Phe)
c.2235G>C (p.Leu745Phe)
4g.159341630G>TCA358591130RAPGEF2c.2118G>T (p.Leu706Phe)
c.2601G>T (p.Leu867Phe)
c.2583G>T (p.Leu861Phe)
c.2247G>T (p.Leu749Phe)
c.2253G>T (p.Leu751Phe)
c.2265G>T (p.Leu755Phe)
c.2235G>T (p.Leu745Phe)
gnomAD v4
4g.159341637_159341638delCA2672534896RAPGEF2c.2125_2126del (p.Gln710AsnfsTer21)
c.2608_2609del (p.Gln871AsnfsTer21)
c.2590_2591del (p.Gln865AsnfsTer21)
c.2254_2255del (p.Gln753AsnfsTer21)
c.2260_2261del (p.Gln755AsnfsTer21)
c.2272_2273del (p.Gln759AsnfsTer21)
c.2242_2243del (p.Gln749AsnfsTer21)
gnomAD v4
4g.159341635_159341638delCA645540200RAPGEF2c.2123_2126del (p.Glu708ValfsTer?)
c.2606_2609del (p.Glu869ValfsTer?)
c.2588_2591del (p.Glu863ValfsTer?)
c.2252_2255del (p.Glu751ValfsTer?)
c.2258_2261del (p.Glu753ValfsTer?)
c.2270_2273del (p.Glu757ValfsTer?)
c.2240_2243del (p.Glu747ValfsTer?)
gnomAD v4 COSMIC
4g.159341631A>CCA442144689RAPGEF2c.2119A>C (p.Arg707=)
c.2602A>C (p.Arg868=)
c.2584A>C (p.Arg862=)
c.2248A>C (p.Arg750=)
c.2254A>C (p.Arg752=)
c.2266A>C (p.Arg756=)
c.2236A>C (p.Arg746=)
4g.159341631A>GCA358591131RAPGEF2c.2119A>G (p.Arg707Gly)
c.2602A>G (p.Arg868Gly)
c.2584A>G (p.Arg862Gly)
c.2248A>G (p.Arg750Gly)
c.2254A>G (p.Arg752Gly)
c.2266A>G (p.Arg756Gly)
c.2236A>G (p.Arg746Gly)
4g.159341631A>TCA358591132RAPGEF2c.2119A>T (p.Arg707Ter)
c.2602A>T (p.Arg868Ter)
c.2584A>T (p.Arg862Ter)
c.2248A>T (p.Arg750Ter)
c.2254A>T (p.Arg752Ter)
c.2266A>T (p.Arg756Ter)
c.2236A>T (p.Arg746Ter)
4g.159341632G>ACA358591133RAPGEF2c.2120G>A (p.Arg707Lys)
c.2603G>A (p.Arg868Lys)
c.2585G>A (p.Arg862Lys)
c.2249G>A (p.Arg750Lys)
c.2255G>A (p.Arg752Lys)
c.2267G>A (p.Arg756Lys)
c.2237G>A (p.Arg746Lys)
dbSNP gnomAD v3 gnomAD v4
4g.159341632G>CCA358591134RAPGEF2c.2120G>C (p.Arg707Thr)
c.2603G>C (p.Arg868Thr)
c.2585G>C (p.Arg862Thr)
c.2249G>C (p.Arg750Thr)
c.2255G>C (p.Arg752Thr)
c.2267G>C (p.Arg756Thr)
c.2237G>C (p.Arg746Thr)
4g.159341632G=CA1507167709RAPGEF2c.2120G= (p.Arg707=)
c.2603G= (p.Arg868=)
c.2585G= (p.Arg862=)
c.2249G= (p.Arg750=)
c.2255G= (p.Arg752=)
c.2267G= (p.Arg756=)
c.2237G= (p.Arg746=)
4g.159341632G>TCA358591135RAPGEF2c.2120G>T (p.Arg707Ile)
c.2603G>T (p.Arg868Ile)
c.2585G>T (p.Arg862Ile)
c.2249G>T (p.Arg750Ile)
c.2255G>T (p.Arg752Ile)
c.2267G>T (p.Arg756Ile)
c.2237G>T (p.Arg746Ile)
4g.159341633A=CA1507167710RAPGEF2c.2121A= (p.Arg707=)
c.2604A= (p.Arg868=)
c.2586A= (p.Arg862=)
c.2250A= (p.Arg750=)
c.2256A= (p.Arg752=)
c.2268A= (p.Arg756=)
c.2238A= (p.Arg746=)
4g.159341633A>CCA358591136RAPGEF2c.2121A>C (p.Arg707Ser)
c.2604A>C (p.Arg868Ser)
c.2586A>C (p.Arg862Ser)
c.2250A>C (p.Arg750Ser)
c.2256A>C (p.Arg752Ser)
c.2268A>C (p.Arg756Ser)
c.2238A>C (p.Arg746Ser)
4g.159341633A>GCA108901834RAPGEF2c.2121A>G (p.Arg707=)
c.2604A>G (p.Arg868=)
c.2586A>G (p.Arg862=)
c.2250A>G (p.Arg750=)
c.2256A>G (p.Arg752=)
c.2268A>G (p.Arg756=)
c.2238A>G (p.Arg746=)
dbSNP gnomAD v2 gnomAD v4
4g.159341633A>TCA358591137RAPGEF2c.2121A>T (p.Arg707Ser)
c.2604A>T (p.Arg868Ser)
c.2586A>T (p.Arg862Ser)
c.2250A>T (p.Arg750Ser)
c.2256A>T (p.Arg752Ser)
c.2268A>T (p.Arg756Ser)
c.2238A>T (p.Arg746Ser)
4g.159341634G>ACA358591138RAPGEF2c.2122G>A (p.Glu708Lys)
c.2605G>A (p.Glu869Lys)
c.2587G>A (p.Glu863Lys)
c.2251G>A (p.Glu751Lys)
c.2257G>A (p.Glu753Lys)
c.2269G>A (p.Glu757Lys)
c.2239G>A (p.Glu747Lys)
4g.159341634G>CCA358591140RAPGEF2c.2122G>C (p.Glu708Gln)
c.2605G>C (p.Glu869Gln)
c.2587G>C (p.Glu863Gln)
c.2251G>C (p.Glu751Gln)
c.2257G>C (p.Glu753Gln)
c.2269G>C (p.Glu757Gln)
c.2239G>C (p.Glu747Gln)
4g.159341634G>TCA358591139RAPGEF2c.2122G>T (p.Glu708Ter)
c.2605G>T (p.Glu869Ter)
c.2587G>T (p.Glu863Ter)
c.2251G>T (p.Glu751Ter)
c.2257G>T (p.Glu753Ter)
c.2269G>T (p.Glu757Ter)
c.2239G>T (p.Glu747Ter)
4g.159341635A>CCA358591141RAPGEF2c.2123A>C (p.Glu708Ala)
c.2606A>C (p.Glu869Ala)
c.2588A>C (p.Glu863Ala)
c.2252A>C (p.Glu751Ala)
c.2258A>C (p.Glu753Ala)
c.2270A>C (p.Glu757Ala)
c.2240A>C (p.Glu747Ala)
4g.159341635A>GCA358591143RAPGEF2c.2123A>G (p.Glu708Gly)
c.2606A>G (p.Glu869Gly)
c.2588A>G (p.Glu863Gly)
c.2252A>G (p.Glu751Gly)
c.2258A>G (p.Glu753Gly)
c.2270A>G (p.Glu757Gly)
c.2240A>G (p.Glu747Gly)
4g.159341635A>TCA358591142RAPGEF2c.2123A>T (p.Glu708Val)
c.2606A>T (p.Glu869Val)
c.2588A>T (p.Glu863Val)
c.2252A>T (p.Glu751Val)
c.2258A>T (p.Glu753Val)
c.2270A>T (p.Glu757Val)
c.2240A>T (p.Glu747Val)
4g.159341636G>ACA442144690RAPGEF2c.2124G>A (p.Glu708=)
c.2607G>A (p.Glu869=)
c.2589G>A (p.Glu863=)
c.2253G>A (p.Glu751=)
c.2259G>A (p.Glu753=)
c.2271G>A (p.Glu757=)
c.2241G>A (p.Glu747=)
4g.159341636G>CCA3124792RAPGEF2c.2124G>C (p.Glu708Asp)
c.2607G>C (p.Glu869Asp)
c.2589G>C (p.Glu863Asp)
c.2253G>C (p.Glu751Asp)
c.2259G>C (p.Glu753Asp)
c.2271G>C (p.Glu757Asp)
c.2241G>C (p.Glu747Asp)
dbSNP ExAC gnomAD v2
4g.159341636G=CA1507167711RAPGEF2c.2124G= (p.Glu708=)
c.2607G= (p.Glu869=)
c.2589G= (p.Glu863=)
c.2253G= (p.Glu751=)
c.2259G= (p.Glu753=)
c.2271G= (p.Glu757=)
c.2241G= (p.Glu747=)
4g.159341636G>TCA358591144RAPGEF2c.2124G>T (p.Glu708Asp)
c.2607G>T (p.Glu869Asp)
c.2589G>T (p.Glu863Asp)
c.2253G>T (p.Glu751Asp)
c.2259G>T (p.Glu753Asp)
c.2271G>T (p.Glu757Asp)
c.2241G>T (p.Glu747Asp)
4g.159341637A>CCA358591145RAPGEF2c.2125A>C (p.Ser709Arg)
c.2608A>C (p.Ser870Arg)
c.2590A>C (p.Ser864Arg)
c.2254A>C (p.Ser752Arg)
c.2260A>C (p.Ser754Arg)
c.2272A>C (p.Ser758Arg)
c.2242A>C (p.Ser748Arg)
4g.159341637A>GCA358591147RAPGEF2c.2125A>G (p.Ser709Gly)
c.2608A>G (p.Ser870Gly)
c.2590A>G (p.Ser864Gly)
c.2254A>G (p.Ser752Gly)
c.2260A>G (p.Ser754Gly)
c.2272A>G (p.Ser758Gly)
c.2242A>G (p.Ser748Gly)
4g.159341637A>TCA358591146RAPGEF2c.2125A>T (p.Ser709Cys)
c.2608A>T (p.Ser870Cys)
c.2590A>T (p.Ser864Cys)
c.2254A>T (p.Ser752Cys)
c.2260A>T (p.Ser754Cys)
c.2272A>T (p.Ser758Cys)
c.2242A>T (p.Ser748Cys)
4g.159341638G>ACA358591148RAPGEF2c.2126G>A (p.Ser709Asn)
c.2609G>A (p.Ser870Asn)
c.2591G>A (p.Ser864Asn)
c.2255G>A (p.Ser752Asn)
c.2261G>A (p.Ser754Asn)
c.2273G>A (p.Ser758Asn)
c.2243G>A (p.Ser748Asn)
gnomAD v4
4g.159341638G>CCA358591149RAPGEF2c.2126G>C (p.Ser709Thr)
c.2609G>C (p.Ser870Thr)
c.2591G>C (p.Ser864Thr)
c.2255G>C (p.Ser752Thr)
c.2261G>C (p.Ser754Thr)
c.2273G>C (p.Ser758Thr)
c.2243G>C (p.Ser748Thr)
4g.159341638G>TCA358591150RAPGEF2c.2126G>T (p.Ser709Ile)
c.2609G>T (p.Ser870Ile)
c.2591G>T (p.Ser864Ile)
c.2255G>T (p.Ser752Ile)
c.2261G>T (p.Ser754Ile)
c.2273G>T (p.Ser758Ile)
c.2243G>T (p.Ser748Ile)
4g.159341639T>ACA358591151RAPGEF2c.2127T>A (p.Ser709Arg)
c.2610T>A (p.Ser870Arg)
c.2592T>A (p.Ser864Arg)
c.2256T>A (p.Ser752Arg)
c.2262T>A (p.Ser754Arg)
c.2274T>A (p.Ser758Arg)
c.2244T>A (p.Ser748Arg)
4g.159341639T>CCA442144691RAPGEF2c.2127T>C (p.Ser709=)
c.2610T>C (p.Ser870=)
c.2592T>C (p.Ser864=)
c.2256T>C (p.Ser752=)
c.2262T>C (p.Ser754=)
c.2274T>C (p.Ser758=)
c.2244T>C (p.Ser748=)
4g.159341639T>GCA358591152RAPGEF2c.2127T>G (p.Ser709Arg)
c.2610T>G (p.Ser870Arg)
c.2592T>G (p.Ser864Arg)
c.2256T>G (p.Ser752Arg)
c.2262T>G (p.Ser754Arg)
c.2274T>G (p.Ser758Arg)
c.2244T>G (p.Ser748Arg)
4g.159341640C>ACA358591153RAPGEF2c.2128C>A (p.Gln710Lys)
c.2611C>A (p.Gln871Lys)
c.2593C>A (p.Gln865Lys)
c.2257C>A (p.Gln753Lys)
c.2263C>A (p.Gln755Lys)
c.2275C>A (p.Gln759Lys)
c.2245C>A (p.Gln749Lys)
4g.159341640C>GCA358591154RAPGEF2c.2128C>G (p.Gln710Glu)
c.2611C>G (p.Gln871Glu)
c.2593C>G (p.Gln865Glu)
c.2257C>G (p.Gln753Glu)
c.2263C>G (p.Gln755Glu)
c.2275C>G (p.Gln759Glu)
c.2245C>G (p.Gln749Glu)
4g.159341640C>TCA358591155RAPGEF2c.2128C>T (p.Gln710Ter)
c.2611C>T (p.Gln871Ter)
c.2593C>T (p.Gln865Ter)
c.2257C>T (p.Gln753Ter)
c.2263C>T (p.Gln755Ter)
c.2275C>T (p.Gln759Ter)
c.2245C>T (p.Gln749Ter)
4g.159341641A>CCA358591156RAPGEF2c.2129A>C (p.Gln710Pro)
c.2612A>C (p.Gln871Pro)
c.2594A>C (p.Gln865Pro)
c.2258A>C (p.Gln753Pro)
c.2264A>C (p.Gln755Pro)
c.2276A>C (p.Gln759Pro)
c.2246A>C (p.Gln749Pro)
4g.159341641A>GCA358591157RAPGEF2c.2129A>G (p.Gln710Arg)
c.2612A>G (p.Gln871Arg)
c.2594A>G (p.Gln865Arg)
c.2258A>G (p.Gln753Arg)
c.2264A>G (p.Gln755Arg)
c.2276A>G (p.Gln759Arg)
c.2246A>G (p.Gln749Arg)
4g.159341641A>TCA358591158RAPGEF2c.2129A>T (p.Gln710Leu)
c.2612A>T (p.Gln871Leu)
c.2594A>T (p.Gln865Leu)
c.2258A>T (p.Gln753Leu)
c.2264A>T (p.Gln755Leu)
c.2276A>T (p.Gln759Leu)
c.2246A>T (p.Gln749Leu)
4g.159341642A=CA1507167712RAPGEF2c.2130A= (p.Gln710=)
c.2613A= (p.Gln871=)
c.2595A= (p.Gln865=)
c.2259A= (p.Gln753=)
c.2265A= (p.Gln755=)
c.2277A= (p.Gln759=)
c.2247A= (p.Gln749=)
4g.159341642A>CCA358591159RAPGEF2c.2130A>C (p.Gln710His)
c.2613A>C (p.Gln871His)
c.2595A>C (p.Gln865His)
c.2259A>C (p.Gln753His)
c.2265A>C (p.Gln755His)
c.2277A>C (p.Gln759His)
c.2247A>C (p.Gln749His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.159341642A>GCA442144692RAPGEF2c.2130A>G (p.Gln710=)
c.2613A>G (p.Gln871=)
c.2595A>G (p.Gln865=)
c.2259A>G (p.Gln753=)
c.2265A>G (p.Gln755=)
c.2277A>G (p.Gln759=)
c.2247A>G (p.Gln749=)
gnomAD v4
4g.159341642A>TCA358591160RAPGEF2c.2130A>T (p.Gln710His)
c.2613A>T (p.Gln871His)
c.2595A>T (p.Gln865His)
c.2259A>T (p.Gln753His)
c.2265A>T (p.Gln755His)
c.2277A>T (p.Gln759His)
c.2247A>T (p.Gln749His)
gnomAD v4
4g.159341643A>CCA358591163RAPGEF2c.2131A>C (p.Ile711Leu)
c.2614A>C (p.Ile872Leu)
c.2596A>C (p.Ile866Leu)
c.2260A>C (p.Ile754Leu)
c.2266A>C (p.Ile756Leu)
c.2278A>C (p.Ile760Leu)
c.2248A>C (p.Ile750Leu)
4g.159341643A>GCA358591162RAPGEF2c.2131A>G (p.Ile711Val)
c.2614A>G (p.Ile872Val)
c.2596A>G (p.Ile866Val)
c.2260A>G (p.Ile754Val)
c.2266A>G (p.Ile756Val)
c.2278A>G (p.Ile760Val)
c.2248A>G (p.Ile750Val)
4g.159341643A>TCA358591161RAPGEF2c.2131A>T (p.Ile711Phe)
c.2614A>T (p.Ile872Phe)
c.2596A>T (p.Ile866Phe)
c.2260A>T (p.Ile754Phe)
c.2266A>T (p.Ile756Phe)
c.2278A>T (p.Ile760Phe)
c.2248A>T (p.Ile750Phe)
4g.159341644T>ACA358591164RAPGEF2c.2132T>A (p.Ile711Asn)
c.2615T>A (p.Ile872Asn)
c.2597T>A (p.Ile866Asn)
c.2261T>A (p.Ile754Asn)
c.2267T>A (p.Ile756Asn)
c.2279T>A (p.Ile760Asn)
c.2249T>A (p.Ile750Asn)
4g.159341644T>CCA358591165RAPGEF2c.2132T>C (p.Ile711Thr)
c.2615T>C (p.Ile872Thr)
c.2597T>C (p.Ile866Thr)
c.2261T>C (p.Ile754Thr)
c.2267T>C (p.Ile756Thr)
c.2279T>C (p.Ile760Thr)
c.2249T>C (p.Ile750Thr)
gnomAD v4
4g.159341644T>GCA358591166RAPGEF2c.2132T>G (p.Ile711Ser)
c.2615T>G (p.Ile872Ser)
c.2597T>G (p.Ile866Ser)
c.2261T>G (p.Ile754Ser)
c.2267T>G (p.Ile756Ser)
c.2279T>G (p.Ile760Ser)
c.2249T>G (p.Ile750Ser)
4g.159341645T>ACA442144693RAPGEF2c.2133T>A (p.Ile711=)
c.2616T>A (p.Ile872=)
c.2598T>A (p.Ile866=)
c.2262T>A (p.Ile754=)
c.2268T>A (p.Ile756=)
c.2280T>A (p.Ile760=)
c.2250T>A (p.Ile750=)
4g.159341645T>CCA442144694RAPGEF2c.2133T>C (p.Ile711=)
c.2616T>C (p.Ile872=)
c.2598T>C (p.Ile866=)
c.2262T>C (p.Ile754=)
c.2268T>C (p.Ile756=)
c.2280T>C (p.Ile760=)
c.2250T>C (p.Ile750=)
4g.159341645T>GCA358591167RAPGEF2c.2133T>G (p.Ile711Met)
c.2616T>G (p.Ile872Met)
c.2598T>G (p.Ile866Met)
c.2262T>G (p.Ile754Met)
c.2268T>G (p.Ile756Met)
c.2280T>G (p.Ile760Met)
c.2250T>G (p.Ile750Met)
4g.159341646T>ACA358591168RAPGEF2c.2134T>A (p.Ser712Thr)
c.2617T>A (p.Ser873Thr)
c.2599T>A (p.Ser867Thr)
c.2263T>A (p.Ser755Thr)
c.2269T>A (p.Ser757Thr)
c.2281T>A (p.Ser761Thr)
c.2251T>A (p.Ser751Thr)
4g.159341646T>CCA358591169RAPGEF2c.2134T>C (p.Ser712Pro)
c.2617T>C (p.Ser873Pro)
c.2599T>C (p.Ser867Pro)
c.2263T>C (p.Ser755Pro)
c.2269T>C (p.Ser757Pro)
c.2281T>C (p.Ser761Pro)
c.2251T>C (p.Ser751Pro)
4g.159341646T>GCA358591170RAPGEF2c.2134T>G (p.Ser712Ala)
c.2617T>G (p.Ser873Ala)
c.2599T>G (p.Ser867Ala)
c.2263T>G (p.Ser755Ala)
c.2269T>G (p.Ser757Ala)
c.2281T>G (p.Ser761Ala)
c.2251T>G (p.Ser751Ala)
dbSNP
4g.159341646T=CA1507167713RAPGEF2c.2134T= (p.Ser712=)
c.2617T= (p.Ser873=)
c.2599T= (p.Ser867=)
c.2263T= (p.Ser755=)
c.2269T= (p.Ser757=)
c.2281T= (p.Ser761=)
c.2251T= (p.Ser751=)
4g.159341647C>ACA358591171RAPGEF2c.2135C>A (p.Ser712Tyr)
c.2618C>A (p.Ser873Tyr)
c.2600C>A (p.Ser867Tyr)
c.2264C>A (p.Ser755Tyr)
c.2270C>A (p.Ser757Tyr)
c.2282C>A (p.Ser761Tyr)
c.2252C>A (p.Ser751Tyr)
4g.159341647C>GCA358591172RAPGEF2c.2135C>G (p.Ser712Cys)
c.2618C>G (p.Ser873Cys)
c.2600C>G (p.Ser867Cys)
c.2264C>G (p.Ser755Cys)
c.2270C>G (p.Ser757Cys)
c.2282C>G (p.Ser761Cys)
c.2252C>G (p.Ser751Cys)
4g.159341647C>TCA358591173RAPGEF2c.2135C>T (p.Ser712Phe)
c.2618C>T (p.Ser873Phe)
c.2600C>T (p.Ser867Phe)
c.2264C>T (p.Ser755Phe)
c.2270C>T (p.Ser757Phe)
c.2282C>T (p.Ser761Phe)
c.2252C>T (p.Ser751Phe)
4g.159341648C>ACA442144695RAPGEF2c.2136C>A (p.Ser712=)
c.2619C>A (p.Ser873=)
c.2601C>A (p.Ser867=)
c.2265C>A (p.Ser755=)
c.2271C>A (p.Ser757=)
c.2283C>A (p.Ser761=)
c.2253C>A (p.Ser751=)
4g.159341648C>GCA442144696RAPGEF2c.2136C>G (p.Ser712=)
c.2619C>G (p.Ser873=)
c.2601C>G (p.Ser867=)
c.2265C>G (p.Ser755=)
c.2271C>G (p.Ser757=)
c.2283C>G (p.Ser761=)
c.2253C>G (p.Ser751=)
4g.159341648C>TCA442144697RAPGEF2c.2136C>T (p.Ser712=)
c.2619C>T (p.Ser873=)
c.2601C>T (p.Ser867=)
c.2265C>T (p.Ser755=)
c.2271C>T (p.Ser757=)
c.2283C>T (p.Ser761=)
c.2253C>T (p.Ser751=)
gnomAD v4
4g.159341649C>ACA358591174RAPGEF2c.2137C>A (p.Leu713Ile)
c.2620C>A (p.Leu874Ile)
c.2602C>A (p.Leu868Ile)
c.2266C>A (p.Leu756Ile)
c.2272C>A (p.Leu758Ile)
c.2284C>A (p.Leu762Ile)
c.2254C>A (p.Leu752Ile)
4g.159341649C=CA1507167714RAPGEF2c.2137C= (p.Leu713=)
c.2620C= (p.Leu874=)
c.2602C= (p.Leu868=)
c.2266C= (p.Leu756=)
c.2272C= (p.Leu758=)
c.2284C= (p.Leu762=)
c.2254C= (p.Leu752=)
4g.159341649C>GCA358591175RAPGEF2c.2137C>G (p.Leu713Val)
c.2620C>G (p.Leu874Val)
c.2602C>G (p.Leu868Val)
c.2266C>G (p.Leu756Val)
c.2272C>G (p.Leu758Val)
c.2284C>G (p.Leu762Val)
c.2254C>G (p.Leu752Val)
4g.159341649C>TCA3124793RAPGEF2c.2137C>T (p.Leu713Phe)
c.2620C>T (p.Leu874Phe)
c.2602C>T (p.Leu868Phe)
c.2266C>T (p.Leu756Phe)
c.2272C>T (p.Leu758Phe)
c.2284C>T (p.Leu762Phe)
c.2254C>T (p.Leu752Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.159341650T>ACA358591177RAPGEF2c.2138T>A (p.Leu713His)
c.2621T>A (p.Leu874His)
c.2603T>A (p.Leu868His)
c.2267T>A (p.Leu756His)
c.2273T>A (p.Leu758His)
c.2285T>A (p.Leu762His)
c.2255T>A (p.Leu752His)
4g.159341650T>CCA358591178RAPGEF2c.2138T>C (p.Leu713Pro)
c.2621T>C (p.Leu874Pro)
c.2603T>C (p.Leu868Pro)
c.2267T>C (p.Leu756Pro)
c.2273T>C (p.Leu758Pro)
c.2285T>C (p.Leu762Pro)
c.2255T>C (p.Leu752Pro)
4g.159341650T>GCA358591176RAPGEF2c.2138T>G (p.Leu713Arg)
c.2621T>G (p.Leu874Arg)
c.2603T>G (p.Leu868Arg)
c.2267T>G (p.Leu756Arg)
c.2273T>G (p.Leu758Arg)
c.2285T>G (p.Leu762Arg)
c.2255T>G (p.Leu752Arg)
4g.159341651C>ACA442144698RAPGEF2c.2139C>A (p.Leu713=)
c.2622C>A (p.Leu874=)
c.2604C>A (p.Leu868=)
c.2268C>A (p.Leu756=)
c.2274C>A (p.Leu758=)
c.2286C>A (p.Leu762=)
c.2256C>A (p.Leu752=)
4g.159341651C=CA1507167715RAPGEF2c.2139C= (p.Leu713=)
c.2622C= (p.Leu874=)
c.2604C= (p.Leu868=)
c.2268C= (p.Leu756=)
c.2274C= (p.Leu758=)
c.2286C= (p.Leu762=)
c.2256C= (p.Leu752=)
4g.159341651C>GCA442144699RAPGEF2c.2139C>G (p.Leu713=)
c.2622C>G (p.Leu874=)
c.2604C>G (p.Leu868=)
c.2268C>G (p.Leu756=)
c.2274C>G (p.Leu758=)
c.2286C>G (p.Leu762=)
c.2256C>G (p.Leu752=)
4g.159341651C>TCA3124794RAPGEF2c.2139C>T (p.Leu713=)
c.2622C>T (p.Leu874=)
c.2604C>T (p.Leu868=)
c.2268C>T (p.Leu756=)
c.2274C>T (p.Leu758=)
c.2286C>T (p.Leu762=)
c.2256C>T (p.Leu752=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.159341652C>ACA358591179RAPGEF2c.2140C>A (p.Leu714Ile)
c.2623C>A (p.Leu875Ile)
c.2605C>A (p.Leu869Ile)
c.2269C>A (p.Leu757Ile)
c.2275C>A (p.Leu759Ile)
c.2287C>A (p.Leu763Ile)
c.2257C>A (p.Leu753Ile)
4g.159341652C>GCA358591180RAPGEF2c.2140C>G (p.Leu714Val)
c.2623C>G (p.Leu875Val)
c.2605C>G (p.Leu869Val)
c.2269C>G (p.Leu757Val)
c.2275C>G (p.Leu759Val)
c.2287C>G (p.Leu763Val)
c.2257C>G (p.Leu753Val)
4g.159341652C>TCA358591181RAPGEF2c.2140C>T (p.Leu714Phe)
c.2623C>T (p.Leu875Phe)
c.2605C>T (p.Leu869Phe)
c.2269C>T (p.Leu757Phe)
c.2275C>T (p.Leu759Phe)
c.2287C>T (p.Leu763Phe)
c.2257C>T (p.Leu753Phe)
4g.159341653_159341655delCA2672534917RAPGEF2c.2141_2143del (p.Leu714del)
c.2624_2626del (p.Leu875del)
c.2606_2608del (p.Leu869del)
c.2270_2272del (p.Leu757del)
c.2276_2278del (p.Leu759del)
c.2288_2290del (p.Leu763del)
c.2258_2260del (p.Leu753del)
gnomAD v4
4g.159341653T>ACA358591182RAPGEF2c.2141T>A (p.Leu714His)
c.2624T>A (p.Leu875His)
c.2606T>A (p.Leu869His)
c.2270T>A (p.Leu757His)
c.2276T>A (p.Leu759His)
c.2288T>A (p.Leu763His)
c.2258T>A (p.Leu753His)
4g.159341653T>CCA358591183RAPGEF2c.2141T>C (p.Leu714Pro)
c.2624T>C (p.Leu875Pro)
c.2606T>C (p.Leu869Pro)
c.2270T>C (p.Leu757Pro)
c.2276T>C (p.Leu759Pro)
c.2288T>C (p.Leu763Pro)
c.2258T>C (p.Leu753Pro)
gnomAD v4
4g.159341653T>GCA358591184RAPGEF2c.2141T>G (p.Leu714Arg)
c.2624T>G (p.Leu875Arg)
c.2606T>G (p.Leu869Arg)
c.2270T>G (p.Leu757Arg)
c.2276T>G (p.Leu759Arg)
c.2288T>G (p.Leu763Arg)
c.2258T>G (p.Leu753Arg)
4g.159341654T>ACA442144701RAPGEF2c.2142T>A (p.Leu714=)
c.2625T>A (p.Leu875=)
c.2607T>A (p.Leu869=)
c.2271T>A (p.Leu757=)
c.2277T>A (p.Leu759=)
c.2289T>A (p.Leu763=)
c.2259T>A (p.Leu753=)
4g.159341654T>CCA442144703RAPGEF2c.2142T>C (p.Leu714=)
c.2625T>C (p.Leu875=)
c.2607T>C (p.Leu869=)
c.2271T>C (p.Leu757=)
c.2277T>C (p.Leu759=)
c.2289T>C (p.Leu763=)
c.2259T>C (p.Leu753=)
4g.159341654T>GCA442144702RAPGEF2c.2142T>G (p.Leu714=)
c.2625T>G (p.Leu875=)
c.2607T>G (p.Leu869=)
c.2271T>G (p.Leu757=)
c.2277T>G (p.Leu759=)
c.2289T>G (p.Leu763=)
c.2259T>G (p.Leu753=)
dbSNP gnomAD v3 gnomAD v4
4g.159341655C>ACA358591185RAPGEF2c.2143C>A (p.Gln715Lys)
c.2626C>A (p.Gln876Lys)
c.2608C>A (p.Gln870Lys)
c.2272C>A (p.Gln758Lys)
c.2278C>A (p.Gln760Lys)
c.2290C>A (p.Gln764Lys)
c.2260C>A (p.Gln754Lys)
4g.159341655C>GCA358591186RAPGEF2c.2143C>G (p.Gln715Glu)
c.2626C>G (p.Gln876Glu)
c.2608C>G (p.Gln870Glu)
c.2272C>G (p.Gln758Glu)
c.2278C>G (p.Gln760Glu)
c.2290C>G (p.Gln764Glu)
c.2260C>G (p.Gln754Glu)
4g.159341655C>TCA358591187RAPGEF2c.2143C>T (p.Gln715Ter)
c.2626C>T (p.Gln876Ter)
c.2608C>T (p.Gln870Ter)
c.2272C>T (p.Gln758Ter)
c.2278C>T (p.Gln760Ter)
c.2290C>T (p.Gln764Ter)
c.2260C>T (p.Gln754Ter)
4g.159341656A>CCA358591188RAPGEF2c.2144A>C (p.Gln715Pro)
c.2627A>C (p.Gln876Pro)
c.2609A>C (p.Gln870Pro)
c.2273A>C (p.Gln758Pro)
c.2279A>C (p.Gln760Pro)
c.2291A>C (p.Gln764Pro)
c.2261A>C (p.Gln754Pro)
4g.159341656A>GCA358591189RAPGEF2c.2144A>G (p.Gln715Arg)
c.2627A>G (p.Gln876Arg)
c.2609A>G (p.Gln870Arg)
c.2273A>G (p.Gln758Arg)
c.2279A>G (p.Gln760Arg)
c.2291A>G (p.Gln764Arg)
c.2261A>G (p.Gln754Arg)
4g.159341656A>TCA358591190RAPGEF2c.2144A>T (p.Gln715Leu)
c.2627A>T (p.Gln876Leu)
c.2609A>T (p.Gln870Leu)
c.2273A>T (p.Gln758Leu)
c.2279A>T (p.Gln760Leu)
c.2291A>T (p.Gln764Leu)
c.2261A>T (p.Gln754Leu)
4g.159341657G>ACA442144704RAPGEF2c.2145G>A (p.Gln715=)
c.2628G>A (p.Gln876=)
c.2610G>A (p.Gln870=)
c.2274G>A (p.Gln758=)
c.2280G>A (p.Gln760=)
c.2292G>A (p.Gln764=)
c.2262G>A (p.Gln754=)
gnomAD v4
4g.159341657G>CCA358591191RAPGEF2c.2145G>C (p.Gln715His)
c.2628G>C (p.Gln876His)
c.2610G>C (p.Gln870His)
c.2274G>C (p.Gln758His)
c.2280G>C (p.Gln760His)
c.2292G>C (p.Gln764His)
c.2262G>C (p.Gln754His)
4g.159341657G>TCA358591192RAPGEF2c.2145G>T (p.Gln715His)
c.2628G>T (p.Gln876His)
c.2610G>T (p.Gln870His)
c.2274G>T (p.Gln758His)
c.2280G>T (p.Gln760His)
c.2292G>T (p.Gln764His)
c.2262G>T (p.Gln754His)
4g.159341658C>ACA358591193RAPGEF2c.2146C>A (p.Leu716Ile)
c.2629C>A (p.Leu877Ile)
c.2611C>A (p.Leu871Ile)
c.2275C>A (p.Leu759Ile)
c.2281C>A (p.Leu761Ile)
c.2293C>A (p.Leu765Ile)
c.2263C>A (p.Leu755Ile)
4g.159341658C>GCA358591194RAPGEF2c.2146C>G (p.Leu716Val)
c.2629C>G (p.Leu877Val)
c.2611C>G (p.Leu871Val)
c.2275C>G (p.Leu759Val)
c.2281C>G (p.Leu761Val)
c.2293C>G (p.Leu765Val)
c.2263C>G (p.Leu755Val)
4g.159341658C>TCA358591195RAPGEF2c.2146C>T (p.Leu716Phe)
c.2629C>T (p.Leu877Phe)
c.2611C>T (p.Leu871Phe)
c.2275C>T (p.Leu759Phe)
c.2281C>T (p.Leu761Phe)
c.2293C>T (p.Leu765Phe)
c.2263C>T (p.Leu755Phe)
4g.159341659T>ACA358591196RAPGEF2c.2147T>A (p.Leu716His)
c.2630T>A (p.Leu877His)
c.2612T>A (p.Leu871His)
c.2276T>A (p.Leu759His)
c.2282T>A (p.Leu761His)
c.2294T>A (p.Leu765His)
c.2264T>A (p.Leu755His)
4g.159341659T>CCA358591197RAPGEF2c.2147T>C (p.Leu716Pro)
c.2630T>C (p.Leu877Pro)
c.2612T>C (p.Leu871Pro)
c.2276T>C (p.Leu759Pro)
c.2282T>C (p.Leu761Pro)
c.2294T>C (p.Leu765Pro)
c.2264T>C (p.Leu755Pro)
4g.159341659T>GCA358591198RAPGEF2c.2147T>G (p.Leu716Arg)
c.2630T>G (p.Leu877Arg)
c.2612T>G (p.Leu871Arg)
c.2276T>G (p.Leu759Arg)
c.2282T>G (p.Leu761Arg)
c.2294T>G (p.Leu765Arg)
c.2264T>G (p.Leu755Arg)
4g.159341660C>ACA442144705RAPGEF2c.2148C>A (p.Leu716=)
c.2631C>A (p.Leu877=)
c.2613C>A (p.Leu871=)
c.2277C>A (p.Leu759=)
c.2283C>A (p.Leu761=)
c.2295C>A (p.Leu765=)
c.2265C>A (p.Leu755=)
4g.159341660C=CA1507167716RAPGEF2c.2148C= (p.Leu716=)
c.2631C= (p.Leu877=)
c.2613C= (p.Leu871=)
c.2277C= (p.Leu759=)
c.2283C= (p.Leu761=)
c.2295C= (p.Leu765=)
c.2265C= (p.Leu755=)
4g.159341660C>GCA442144706RAPGEF2c.2148C>G (p.Leu716=)
c.2631C>G (p.Leu877=)
c.2613C>G (p.Leu871=)
c.2277C>G (p.Leu759=)
c.2283C>G (p.Leu761=)
c.2295C>G (p.Leu765=)
c.2265C>G (p.Leu755=)
gnomAD v4
4g.159341660C>TCA3124795RAPGEF2c.2148C>T (p.Leu716=)
c.2631C>T (p.Leu877=)
c.2613C>T (p.Leu871=)
c.2277C>T (p.Leu759=)
c.2283C>T (p.Leu761=)
c.2295C>T (p.Leu765=)
c.2265C>T (p.Leu755=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.159341661A=CA1507167717RAPGEF2c.2149A= (p.Ser717=)
c.2632A= (p.Ser878=)
c.2614A= (p.Ser872=)
c.2278A= (p.Ser760=)
c.2284A= (p.Ser762=)
c.2296A= (p.Ser766=)
c.2266A= (p.Ser756=)
4g.159341661A>CCA358591199RAPGEF2c.2149A>C (p.Ser717Arg)
c.2632A>C (p.Ser878Arg)
c.2614A>C (p.Ser872Arg)
c.2278A>C (p.Ser760Arg)
c.2284A>C (p.Ser762Arg)
c.2296A>C (p.Ser766Arg)
c.2266A>C (p.Ser756Arg)
4g.159341661A>GCA358591200RAPGEF2c.2149A>G (p.Ser717Gly)
c.2632A>G (p.Ser878Gly)
c.2614A>G (p.Ser872Gly)
c.2278A>G (p.Ser760Gly)
c.2284A>G (p.Ser762Gly)
c.2296A>G (p.Ser766Gly)
c.2266A>G (p.Ser756Gly)
dbSNP
4g.159341661A>TCA358591201RAPGEF2c.2149A>T (p.Ser717Cys)
c.2632A>T (p.Ser878Cys)
c.2614A>T (p.Ser872Cys)
c.2278A>T (p.Ser760Cys)
c.2284A>T (p.Ser762Cys)
c.2296A>T (p.Ser766Cys)
c.2266A>T (p.Ser756Cys)
COSMIC
4g.159341662G>ACA358591204RAPGEF2c.2150G>A (p.Ser717Asn)
c.2633G>A (p.Ser878Asn)
c.2615G>A (p.Ser872Asn)
c.2279G>A (p.Ser760Asn)
c.2285G>A (p.Ser762Asn)
c.2297G>A (p.Ser766Asn)
c.2267G>A (p.Ser756Asn)
gnomAD v4
4g.159341662G>CCA358591203RAPGEF2c.2150G>C (p.Ser717Thr)
c.2633G>C (p.Ser878Thr)
c.2615G>C (p.Ser872Thr)
c.2279G>C (p.Ser760Thr)
c.2285G>C (p.Ser762Thr)
c.2297G>C (p.Ser766Thr)
c.2267G>C (p.Ser756Thr)
4g.159341662G>TCA358591202RAPGEF2c.2150G>T (p.Ser717Ile)
c.2633G>T (p.Ser878Ile)
c.2615G>T (p.Ser872Ile)
c.2279G>T (p.Ser760Ile)
c.2285G>T (p.Ser762Ile)
c.2297G>T (p.Ser766Ile)
c.2267G>T (p.Ser756Ile)
gnomAD v4
4g.159341663C>ACA358591205RAPGEF2c.2151C>A (p.Ser717Arg)
c.2634C>A (p.Ser878Arg)
c.2616C>A (p.Ser872Arg)
c.2280C>A (p.Ser760Arg)
c.2286C>A (p.Ser762Arg)
c.2298C>A (p.Ser766Arg)
c.2268C>A (p.Ser756Arg)
4g.159341663C>GCA358591206RAPGEF2c.2151C>G (p.Ser717Arg)
c.2634C>G (p.Ser878Arg)
c.2616C>G (p.Ser872Arg)
c.2280C>G (p.Ser760Arg)
c.2286C>G (p.Ser762Arg)
c.2298C>G (p.Ser766Arg)
c.2268C>G (p.Ser756Arg)
4g.159341663C>TCA442144707RAPGEF2c.2151C>T (p.Ser717=)
c.2634C>T (p.Ser878=)
c.2616C>T (p.Ser872=)
c.2280C>T (p.Ser760=)
c.2286C>T (p.Ser762=)
c.2298C>T (p.Ser766=)
c.2268C>T (p.Ser756=)
gnomAD v4
4g.159341664A>CCA358591207RAPGEF2c.2152A>C (p.Thr718Pro)
c.2635A>C (p.Thr879Pro)
c.2617A>C (p.Thr873Pro)
c.2281A>C (p.Thr761Pro)
c.2287A>C (p.Thr763Pro)
c.2299A>C (p.Thr767Pro)
c.2269A>C (p.Thr757Pro)
4g.159341664A>GCA358591208RAPGEF2c.2152A>G (p.Thr718Ala)
c.2635A>G (p.Thr879Ala)
c.2617A>G (p.Thr873Ala)
c.2281A>G (p.Thr761Ala)
c.2287A>G (p.Thr763Ala)
c.2299A>G (p.Thr767Ala)
c.2269A>G (p.Thr757Ala)
gnomAD v4
4g.159341664A>TCA358591209RAPGEF2c.2152A>T (p.Thr718Ser)
c.2635A>T (p.Thr879Ser)
c.2617A>T (p.Thr873Ser)
c.2281A>T (p.Thr761Ser)
c.2287A>T (p.Thr763Ser)
c.2299A>T (p.Thr767Ser)
c.2269A>T (p.Thr757Ser)
4g.159341665C>ACA358591210RAPGEF2c.2153C>A (p.Thr718Asn)
c.2636C>A (p.Thr879Asn)
c.2618C>A (p.Thr873Asn)
c.2282C>A (p.Thr761Asn)
c.2288C>A (p.Thr763Asn)
c.2300C>A (p.Thr767Asn)
c.2270C>A (p.Thr757Asn)
4g.159341665C>GCA358591211RAPGEF2c.2153C>G (p.Thr718Ser)
c.2636C>G (p.Thr879Ser)
c.2618C>G (p.Thr873Ser)
c.2282C>G (p.Thr761Ser)
c.2288C>G (p.Thr763Ser)
c.2300C>G (p.Thr767Ser)
c.2270C>G (p.Thr757Ser)
4g.159341665C>TCA358591212RAPGEF2c.2153C>T (p.Thr718Ile)
c.2636C>T (p.Thr879Ile)
c.2618C>T (p.Thr873Ile)
c.2282C>T (p.Thr761Ile)
c.2288C>T (p.Thr763Ile)
c.2300C>T (p.Thr767Ile)
c.2270C>T (p.Thr757Ile)
4g.159341666T>ACA442144708RAPGEF2c.2154T>A (p.Thr718=)
c.2637T>A (p.Thr879=)
c.2619T>A (p.Thr873=)
c.2283T>A (p.Thr761=)
c.2289T>A (p.Thr763=)
c.2301T>A (p.Thr767=)
c.2271T>A (p.Thr757=)
4g.159341666T>CCA442144709RAPGEF2c.2154T>C (p.Thr718=)
c.2637T>C (p.Thr879=)
c.2619T>C (p.Thr873=)
c.2283T>C (p.Thr761=)
c.2289T>C (p.Thr763=)
c.2301T>C (p.Thr767=)
c.2271T>C (p.Thr757=)
4g.159341666T>GCA442144710RAPGEF2c.2154T>G (p.Thr718=)
c.2637T>G (p.Thr879=)
c.2619T>G (p.Thr873=)
c.2283T>G (p.Thr761=)
c.2289T>G (p.Thr763=)
c.2301T>G (p.Thr767=)
c.2271T>G (p.Thr757=)
4g.159341667G>ACA3124796RAPGEF2c.2155G>A (p.Val719Met)
c.2638G>A (p.Val880Met)
c.2620G>A (p.Val874Met)
c.2284G>A (p.Val762Met)
c.2290G>A (p.Val764Met)
c.2302G>A (p.Val768Met)
c.2272G>A (p.Val758Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.159341667G>CCA358591213RAPGEF2c.2155G>C (p.Val719Leu)
c.2638G>C (p.Val880Leu)
c.2620G>C (p.Val874Leu)
c.2284G>C (p.Val762Leu)
c.2290G>C (p.Val764Leu)
c.2302G>C (p.Val768Leu)
c.2272G>C (p.Val758Leu)
4g.159341667G=CA1507167718RAPGEF2c.2155G= (p.Val719=)
c.2638G= (p.Val880=)
c.2620G= (p.Val874=)
c.2284G= (p.Val762=)
c.2290G= (p.Val764=)
c.2302G= (p.Val768=)
c.2272G= (p.Val758=)
4g.159341667G>TCA358591214RAPGEF2c.2155G>T (p.Val719Leu)
c.2638G>T (p.Val880Leu)
c.2620G>T (p.Val874Leu)
c.2284G>T (p.Val762Leu)
c.2290G>T (p.Val764Leu)
c.2302G>T (p.Val768Leu)
c.2272G>T (p.Val758Leu)
4g.159341668T>ACA358591215RAPGEF2c.2156T>A (p.Val719Glu)
c.2639T>A (p.Val880Glu)
c.2621T>A (p.Val874Glu)
c.2285T>A (p.Val762Glu)
c.2291T>A (p.Val764Glu)
c.2303T>A (p.Val768Glu)
c.2273T>A (p.Val758Glu)
4g.159341668T>CCA358591216RAPGEF2c.2156T>C (p.Val719Ala)
c.2639T>C (p.Val880Ala)
c.2621T>C (p.Val874Ala)
c.2285T>C (p.Val762Ala)
c.2291T>C (p.Val764Ala)
c.2303T>C (p.Val768Ala)
c.2273T>C (p.Val758Ala)
4g.159341668T>GCA358591217RAPGEF2c.2156T>G (p.Val719Gly)
c.2639T>G (p.Val880Gly)
c.2621T>G (p.Val874Gly)
c.2285T>G (p.Val762Gly)
c.2291T>G (p.Val764Gly)
c.2303T>G (p.Val768Gly)
c.2273T>G (p.Val758Gly)
4g.159341669G>ACA442144711RAPGEF2c.2157G>A (p.Val719=)
c.2640G>A (p.Val880=)
c.2622G>A (p.Val874=)
c.2286G>A (p.Val762=)
c.2292G>A (p.Val764=)
c.2304G>A (p.Val768=)
c.2274G>A (p.Val758=)
4g.159341669G>CCA442144712RAPGEF2c.2157G>C (p.Val719=)
c.2640G>C (p.Val880=)
c.2622G>C (p.Val874=)
c.2286G>C (p.Val762=)
c.2292G>C (p.Val764=)
c.2304G>C (p.Val768=)
c.2274G>C (p.Val758=)
4g.159341669G>TCA442144713RAPGEF2c.2157G>T (p.Val719=)
c.2640G>T (p.Val880=)
c.2622G>T (p.Val874=)
c.2286G>T (p.Val762=)
c.2292G>T (p.Val764=)
c.2304G>T (p.Val768=)
c.2274G>T (p.Val758=)
4g.159341670G>ACA358591220RAPGEF2c.2158G>A (p.Glu720Lys)
c.2641G>A (p.Glu881Lys)
c.2623G>A (p.Glu875Lys)
c.2287G>A (p.Glu763Lys)
c.2293G>A (p.Glu765Lys)
c.2305G>A (p.Glu769Lys)
c.2275G>A (p.Glu759Lys)
dbSNP
4g.159341670G>CCA358591218RAPGEF2c.2158G>C (p.Glu720Gln)
c.2641G>C (p.Glu881Gln)
c.2623G>C (p.Glu875Gln)
c.2287G>C (p.Glu763Gln)
c.2293G>C (p.Glu765Gln)
c.2305G>C (p.Glu769Gln)
c.2275G>C (p.Glu759Gln)
gnomAD v4
4g.159341670G=CA1507167719RAPGEF2c.2158G= (p.Glu720=)
c.2641G= (p.Glu881=)
c.2623G= (p.Glu875=)
c.2287G= (p.Glu763=)
c.2293G= (p.Glu765=)
c.2305G= (p.Glu769=)
c.2275G= (p.Glu759=)
4g.159341670G>TCA358591219RAPGEF2c.2158G>T (p.Glu720Ter)
c.2641G>T (p.Glu881Ter)
c.2623G>T (p.Glu875Ter)
c.2287G>T (p.Glu763Ter)
c.2293G>T (p.Glu765Ter)
c.2305G>T (p.Glu769Ter)
c.2275G>T (p.Glu759Ter)
4g.159341671A>CCA358591221RAPGEF2c.2159A>C (p.Glu720Ala)
c.2642A>C (p.Glu881Ala)
c.2624A>C (p.Glu875Ala)
c.2288A>C (p.Glu763Ala)
c.2294A>C (p.Glu765Ala)
c.2306A>C (p.Glu769Ala)
c.2276A>C (p.Glu759Ala)
4g.159341671A>GCA358591222RAPGEF2c.2159A>G (p.Glu720Gly)
c.2642A>G (p.Glu881Gly)
c.2624A>G (p.Glu875Gly)
c.2288A>G (p.Glu763Gly)
c.2294A>G (p.Glu765Gly)
c.2306A>G (p.Glu769Gly)
c.2276A>G (p.Glu759Gly)
4g.159341671A>TCA358591223RAPGEF2c.2159A>T (p.Glu720Val)
c.2642A>T (p.Glu881Val)
c.2624A>T (p.Glu875Val)
c.2288A>T (p.Glu763Val)
c.2294A>T (p.Glu765Val)
c.2306A>T (p.Glu769Val)
c.2276A>T (p.Glu759Val)
4g.159341672A>CCA358591224RAPGEF2c.2160A>C (p.Glu720Asp)
c.2643A>C (p.Glu881Asp)
c.2625A>C (p.Glu875Asp)
c.2289A>C (p.Glu763Asp)
c.2295A>C (p.Glu765Asp)
c.2307A>C (p.Glu769Asp)
c.2277A>C (p.Glu759Asp)
4g.159341672A>GCA442144714RAPGEF2c.2160A>G (p.Glu720=)
c.2643A>G (p.Glu881=)
c.2625A>G (p.Glu875=)
c.2289A>G (p.Glu763=)
c.2295A>G (p.Glu765=)
c.2307A>G (p.Glu769=)
c.2277A>G (p.Glu759=)
4g.159341672A>TCA358591225RAPGEF2c.2160A>T (p.Glu720Asp)
c.2643A>T (p.Glu881Asp)
c.2625A>T (p.Glu875Asp)
c.2289A>T (p.Glu763Asp)
c.2295A>T (p.Glu765Asp)
c.2307A>T (p.Glu769Asp)
c.2277A>T (p.Glu759Asp)
4g.159341673G>ACA358591226RAPGEF2c.2161G>A (p.Val721Ile)
c.2644G>A (p.Val882Ile)
c.2626G>A (p.Val876Ile)
c.2290G>A (p.Val764Ile)
c.2296G>A (p.Val766Ile)
c.2308G>A (p.Val770Ile)
c.2278G>A (p.Val760Ile)
dbSNP
4g.159341673G>CCA358591227RAPGEF2c.2161G>C (p.Val721Leu)
c.2644G>C (p.Val882Leu)
c.2626G>C (p.Val876Leu)
c.2290G>C (p.Val764Leu)
c.2296G>C (p.Val766Leu)
c.2308G>C (p.Val770Leu)
c.2278G>C (p.Val760Leu)
4g.159341673G>TCA358591228RAPGEF2c.2161G>T (p.Val721Phe)
c.2644G>T (p.Val882Phe)
c.2626G>T (p.Val876Phe)
c.2290G>T (p.Val764Phe)
c.2296G>T (p.Val766Phe)
c.2308G>T (p.Val770Phe)
c.2278G>T (p.Val760Phe)
4g.159341674T>ACA358591229RAPGEF2c.2162T>A (p.Val721Asp)
c.2645T>A (p.Val882Asp)
c.2627T>A (p.Val876Asp)
c.2291T>A (p.Val764Asp)
c.2297T>A (p.Val766Asp)
c.2309T>A (p.Val770Asp)
c.2279T>A (p.Val760Asp)
4g.159341674T>CCA358591230RAPGEF2c.2162T>C (p.Val721Ala)
c.2645T>C (p.Val882Ala)
c.2627T>C (p.Val876Ala)
c.2291T>C (p.Val764Ala)
c.2297T>C (p.Val766Ala)
c.2309T>C (p.Val770Ala)
c.2279T>C (p.Val760Ala)
dbSNP
4g.159341674T>GCA358591231RAPGEF2c.2162T>G (p.Val721Gly)
c.2645T>G (p.Val882Gly)
c.2627T>G (p.Val876Gly)
c.2291T>G (p.Val764Gly)
c.2297T>G (p.Val766Gly)
c.2309T>G (p.Val770Gly)
c.2279T>G (p.Val760Gly)
dbSNP gnomAD v2 gnomAD v4
4g.159341674T=CA1507167720RAPGEF2c.2162T= (p.Val721=)
c.2645T= (p.Val882=)
c.2627T= (p.Val876=)
c.2291T= (p.Val764=)
c.2297T= (p.Val766=)
c.2309T= (p.Val770=)
c.2279T= (p.Val760=)
4g.159341675T>ACA442144715RAPGEF2c.2163T>A (p.Val721=)
c.2646T>A (p.Val882=)
c.2628T>A (p.Val876=)
c.2292T>A (p.Val764=)
c.2298T>A (p.Val766=)
c.2310T>A (p.Val770=)
c.2280T>A (p.Val760=)
4g.159341675T>CCA442144716RAPGEF2c.2163T>C (p.Val721=)
c.2646T>C (p.Val882=)
c.2628T>C (p.Val876=)
c.2292T>C (p.Val764=)
c.2298T>C (p.Val766=)
c.2310T>C (p.Val770=)
c.2280T>C (p.Val760=)
4g.159341675T>GCA442144717RAPGEF2c.2163T>G (p.Val721=)
c.2646T>G (p.Val882=)
c.2628T>G (p.Val876=)
c.2292T>G (p.Val764=)
c.2298T>G (p.Val766=)
c.2310T>G (p.Val770=)
c.2280T>G (p.Val760=)
4g.159341676G>ACA358591233RAPGEF2c.2164G>A (p.Ala722Thr)
c.2647G>A (p.Ala883Thr)
c.2629G>A (p.Ala877Thr)
c.2293G>A (p.Ala765Thr)
c.2299G>A (p.Ala767Thr)
c.2311G>A (p.Ala771Thr)
c.2281G>A (p.Ala761Thr)
4g.159341676G>CCA358591234RAPGEF2c.2164G>C (p.Ala722Pro)
c.2647G>C (p.Ala883Pro)
c.2629G>C (p.Ala877Pro)
c.2293G>C (p.Ala765Pro)
c.2299G>C (p.Ala767Pro)
c.2311G>C (p.Ala771Pro)
c.2281G>C (p.Ala761Pro)
4g.159341676G>TCA358591232RAPGEF2c.2164G>T (p.Ala722Ser)
c.2647G>T (p.Ala883Ser)
c.2629G>T (p.Ala877Ser)
c.2293G>T (p.Ala765Ser)
c.2299G>T (p.Ala767Ser)
c.2311G>T (p.Ala771Ser)
c.2281G>T (p.Ala761Ser)
4g.159341677C>ACA358591235RAPGEF2c.2165C>A (p.Ala722Glu)
c.2648C>A (p.Ala883Glu)
c.2630C>A (p.Ala877Glu)
c.2294C>A (p.Ala765Glu)
c.2300C>A (p.Ala767Glu)
c.2312C>A (p.Ala771Glu)
c.2282C>A (p.Ala761Glu)
4g.159341677C=CA1507167721RAPGEF2c.2165C= (p.Ala722=)
c.2648C= (p.Ala883=)
c.2630C= (p.Ala877=)
c.2294C= (p.Ala765=)
c.2300C= (p.Ala767=)
c.2312C= (p.Ala771=)
c.2282C= (p.Ala761=)
4g.159341677C>GCA358591236RAPGEF2c.2165C>G (p.Ala722Gly)
c.2648C>G (p.Ala883Gly)
c.2630C>G (p.Ala877Gly)
c.2294C>G (p.Ala765Gly)
c.2300C>G (p.Ala767Gly)
c.2312C>G (p.Ala771Gly)
c.2282C>G (p.Ala761Gly)
dbSNP
4g.159341677C>TCA3124797RAPGEF2c.2165C>T (p.Ala722Val)
c.2648C>T (p.Ala883Val)
c.2630C>T (p.Ala877Val)
c.2294C>T (p.Ala765Val)
c.2300C>T (p.Ala767Val)
c.2312C>T (p.Ala771Val)
c.2282C>T (p.Ala761Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.159341678A>CCA442144718RAPGEF2c.2166A>C (p.Ala722=)
c.2649A>C (p.Ala883=)
c.2631A>C (p.Ala877=)
c.2295A>C (p.Ala765=)
c.2301A>C (p.Ala767=)
c.2313A>C (p.Ala771=)
c.2283A>C (p.Ala761=)
4g.159341678A>GCA442144719RAPGEF2c.2166A>G (p.Ala722=)
c.2649A>G (p.Ala883=)
c.2631A>G (p.Ala877=)
c.2295A>G (p.Ala765=)
c.2301A>G (p.Ala767=)
c.2313A>G (p.Ala771=)
c.2283A>G (p.Ala761=)
4g.159341678A>TCA442144720RAPGEF2c.2166A>T (p.Ala722=)
c.2649A>T (p.Ala883=)
c.2631A>T (p.Ala877=)
c.2295A>T (p.Ala765=)
c.2301A>T (p.Ala767=)
c.2313A>T (p.Ala771=)
c.2283A>T (p.Ala761=)
4g.159341679A>CCA358591237RAPGEF2c.2167A>C (p.Thr723Pro)
c.2650A>C (p.Thr884Pro)
c.2632A>C (p.Thr878Pro)
c.2296A>C (p.Thr766Pro)
c.2302A>C (p.Thr768Pro)
c.2314A>C (p.Thr772Pro)
c.2284A>C (p.Thr762Pro)
4g.159341679A>GCA358591238RAPGEF2c.2167A>G (p.Thr723Ala)
c.2650A>G (p.Thr884Ala)
c.2632A>G (p.Thr878Ala)
c.2296A>G (p.Thr766Ala)
c.2302A>G (p.Thr768Ala)
c.2314A>G (p.Thr772Ala)
c.2284A>G (p.Thr762Ala)
gnomAD v4
4g.159341679A>TCA358591239RAPGEF2c.2167A>T (p.Thr723Ser)
c.2650A>T (p.Thr884Ser)
c.2632A>T (p.Thr878Ser)
c.2296A>T (p.Thr766Ser)
c.2302A>T (p.Thr768Ser)
c.2314A>T (p.Thr772Ser)
c.2284A>T (p.Thr762Ser)
4g.159341680C>ACA358591240RAPGEF2c.2168C>A (p.Thr723Lys)
c.2651C>A (p.Thr884Lys)
c.2633C>A (p.Thr878Lys)
c.2297C>A (p.Thr766Lys)
c.2303C>A (p.Thr768Lys)
c.2315C>A (p.Thr772Lys)
c.2285C>A (p.Thr762Lys)
4g.159341680C=CA1507167722RAPGEF2c.2168C= (p.Thr723=)
c.2651C= (p.Thr884=)
c.2633C= (p.Thr878=)
c.2297C= (p.Thr766=)
c.2303C= (p.Thr768=)
c.2315C= (p.Thr772=)
c.2285C= (p.Thr762=)
4g.159341680C>GCA358591241RAPGEF2c.2168C>G (p.Thr723Arg)
c.2651C>G (p.Thr884Arg)
c.2633C>G (p.Thr878Arg)
c.2297C>G (p.Thr766Arg)
c.2303C>G (p.Thr768Arg)
c.2315C>G (p.Thr772Arg)
c.2285C>G (p.Thr762Arg)
4g.159341680C>TCA108901852RAPGEF2c.2168C>T (p.Thr723Ile)
c.2651C>T (p.Thr884Ile)
c.2633C>T (p.Thr878Ile)
c.2297C>T (p.Thr766Ile)
c.2303C>T (p.Thr768Ile)
c.2315C>T (p.Thr772Ile)
c.2285C>T (p.Thr762Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.159341681A>CCA442144723RAPGEF2c.2169A>C (p.Thr723=)
c.2652A>C (p.Thr884=)
c.2634A>C (p.Thr878=)
c.2298A>C (p.Thr766=)
c.2304A>C (p.Thr768=)
c.2316A>C (p.Thr772=)
c.2286A>C (p.Thr762=)
4g.159341681A>GCA442144722RAPGEF2c.2169A>G (p.Thr723=)
c.2652A>G (p.Thr884=)
c.2634A>G (p.Thr878=)
c.2298A>G (p.Thr766=)
c.2304A>G (p.Thr768=)
c.2316A>G (p.Thr772=)
c.2286A>G (p.Thr762=)
4g.159341681A>TCA442144721RAPGEF2c.2169A>T (p.Thr723=)
c.2652A>T (p.Thr884=)
c.2634A>T (p.Thr878=)
c.2298A>T (p.Thr766=)
c.2304A>T (p.Thr768=)
c.2316A>T (p.Thr772=)
c.2286A>T (p.Thr762=)
4g.159341682C>ACA358591242RAPGEF2c.2170C>A (p.Gln724Lys)
c.2653C>A (p.Gln885Lys)
c.2635C>A (p.Gln879Lys)
c.2299C>A (p.Gln767Lys)
c.2305C>A (p.Gln769Lys)
c.2317C>A (p.Gln773Lys)
c.2287C>A (p.Gln763Lys)
dbSNP
4g.159341682C=CA1507167723RAPGEF2c.2170C= (p.Gln724=)
c.2653C= (p.Gln885=)
c.2635C= (p.Gln879=)
c.2299C= (p.Gln767=)
c.2305C= (p.Gln769=)
c.2317C= (p.Gln773=)
c.2287C= (p.Gln763=)
4g.159341682C>GCA358591243RAPGEF2c.2170C>G (p.Gln724Glu)
c.2653C>G (p.Gln885Glu)
c.2635C>G (p.Gln879Glu)
c.2299C>G (p.Gln767Glu)
c.2305C>G (p.Gln769Glu)
c.2317C>G (p.Gln773Glu)
c.2287C>G (p.Gln763Glu)
dbSNP
4g.159341682C>TCA358591244RAPGEF2c.2170C>T (p.Gln724Ter)
c.2653C>T (p.Gln885Ter)
c.2635C>T (p.Gln879Ter)
c.2299C>T (p.Gln767Ter)
c.2305C>T (p.Gln769Ter)
c.2317C>T (p.Gln773Ter)
c.2287C>T (p.Gln763Ter)
4g.159341683A>CCA358591246RAPGEF2c.2171A>C (p.Gln724Pro)
c.2654A>C (p.Gln885Pro)
c.2636A>C (p.Gln879Pro)
c.2300A>C (p.Gln767Pro)
c.2306A>C (p.Gln769Pro)
c.2318A>C (p.Gln773Pro)
c.2288A>C (p.Gln763Pro)
4g.159341683A>GCA358591247RAPGEF2c.2171A>G (p.Gln724Arg)
c.2654A>G (p.Gln885Arg)
c.2636A>G (p.Gln879Arg)
c.2300A>G (p.Gln767Arg)
c.2306A>G (p.Gln769Arg)
c.2318A>G (p.Gln773Arg)
c.2288A>G (p.Gln763Arg)
4g.159341683A>TCA358591245RAPGEF2c.2171A>T (p.Gln724Leu)
c.2654A>T (p.Gln885Leu)
c.2636A>T (p.Gln879Leu)
c.2300A>T (p.Gln767Leu)
c.2306A>T (p.Gln769Leu)
c.2318A>T (p.Gln773Leu)
c.2288A>T (p.Gln763Leu)

Number of alleles fetched