Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6469079T>ACA338117994PLEKHG5c.2212A>T (p.Met738Leu)
c.2386A>T (p.Met796Leu)
c.2323A>T (p.Met775Leu)
n.2688A>T
c.2419A>T (p.Met807Leu)
c.2509A>T (p.Met837Leu)
c.*2424A>T (n.*2424A>T)
n.283A>T
c.*2040A>T (n.*2040A>T)
c.85A>T (p.Met29Leu)
c.2443A>T (p.Met815Leu)
c.2380A>T (p.Met794Leu)
n.1414A>T
c.2449A>T (p.Met817Leu)
 dbSNP
1g.6469079T>CCA561218PLEKHG5c.2212A>G (p.Met738Val)
c.2386A>G (p.Met796Val)
c.2323A>G (p.Met775Val)
n.2688A>G
c.2419A>G (p.Met807Val)
c.2509A>G (p.Met837Val)
c.*2424A>G (n.*2424A>G)
n.283A>G
c.*2040A>G (n.*2040A>G)
c.85A>G (p.Met29Val)
c.2443A>G (p.Met815Val)
c.2380A>G (p.Met794Val)
n.1414A>G
c.2449A>G (p.Met817Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469079T>GCA338117995PLEKHG5c.2212A>C (p.Met738Leu)
c.2386A>C (p.Met796Leu)
c.2323A>C (p.Met775Leu)
n.2688A>C
c.2419A>C (p.Met807Leu)
c.2509A>C (p.Met837Leu)
c.*2424A>C (n.*2424A>C)
n.283A>C
c.*2040A>C (n.*2040A>C)
c.85A>C (p.Met29Leu)
c.2443A>C (p.Met815Leu)
c.2380A>C (p.Met794Leu)
n.1414A>C
c.2449A>C (p.Met817Leu)
1g.6469079T=CA1151520054PLEKHG5c.2212A= (p.Met738=)
c.2386A= (p.Met796=)
c.2323A= (p.Met775=)
n.2688A=
c.2419A= (p.Met807=)
c.2509A= (p.Met837=)
c.*2424A= (n.*2424A=)
n.283A=
c.*2040A= (n.*2040A=)
c.85A= (p.Met29=)
c.2443A= (p.Met815=)
c.2380A= (p.Met794=)
n.1414A=
c.2449A= (p.Met817=)
1g.6469080G>ACA415831906PLEKHG5c.2211C>T (p.Ile737=)
c.2385C>T (p.Ile795=)
c.2322C>T (p.Ile774=)
n.2687C>T
c.2418C>T (p.Ile806=)
c.2508C>T (p.Ile836=)
c.*2423C>T (n.*2423C>T)
n.282C>T
c.*2039C>T (n.*2039C>T)
c.84C>T (p.Ile28=)
c.2442C>T (p.Ile814=)
c.2379C>T (p.Ile793=)
n.1413C>T
c.2448C>T (p.Ile816=)
1g.6469080G>CCA338117996PLEKHG5c.2211C>G (p.Ile737Met)
c.2385C>G (p.Ile795Met)
c.2322C>G (p.Ile774Met)
n.2687C>G
c.2418C>G (p.Ile806Met)
c.2508C>G (p.Ile836Met)
c.*2423C>G (n.*2423C>G)
n.282C>G
c.*2039C>G (n.*2039C>G)
c.84C>G (p.Ile28Met)
c.2442C>G (p.Ile814Met)
c.2379C>G (p.Ile793Met)
n.1413C>G
c.2448C>G (p.Ile816Met)
1g.6469080G>TCA415831907PLEKHG5c.2211C>A (p.Ile737=)
c.2385C>A (p.Ile795=)
c.2322C>A (p.Ile774=)
n.2687C>A
c.2418C>A (p.Ile806=)
c.2508C>A (p.Ile836=)
c.*2423C>A (n.*2423C>A)
n.282C>A
c.*2039C>A (n.*2039C>A)
c.84C>A (p.Ile28=)
c.2442C>A (p.Ile814=)
c.2379C>A (p.Ile793=)
n.1413C>A
c.2448C>A (p.Ile816=)
1g.6469081A=CA1151520068PLEKHG5c.2210T= (p.Ile737=)
c.2384T= (p.Ile795=)
c.2321T= (p.Ile774=)
n.2686T=
c.2417T= (p.Ile806=)
c.2507T= (p.Ile836=)
c.*2422T= (n.*2422T=)
n.281T=
c.*2038T= (n.*2038T=)
c.83T= (p.Ile28=)
c.2441T= (p.Ile814=)
c.2378T= (p.Ile793=)
n.1412T=
c.2447T= (p.Ile816=)
1g.6469081A>CCA338117997PLEKHG5c.2210T>G (p.Ile737Ser)
c.2384T>G (p.Ile795Ser)
c.2321T>G (p.Ile774Ser)
n.2686T>G
c.2417T>G (p.Ile806Ser)
c.2507T>G (p.Ile836Ser)
c.*2422T>G (n.*2422T>G)
n.281T>G
c.*2038T>G (n.*2038T>G)
c.83T>G (p.Ile28Ser)
c.2441T>G (p.Ile814Ser)
c.2378T>G (p.Ile793Ser)
n.1412T>G
c.2447T>G (p.Ile816Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6469081A>GCA338117999PLEKHG5c.2210T>C (p.Ile737Thr)
c.2384T>C (p.Ile795Thr)
c.2321T>C (p.Ile774Thr)
n.2686T>C
c.2417T>C (p.Ile806Thr)
c.2507T>C (p.Ile836Thr)
c.*2422T>C (n.*2422T>C)
n.281T>C
c.*2038T>C (n.*2038T>C)
c.83T>C (p.Ile28Thr)
c.2441T>C (p.Ile814Thr)
c.2378T>C (p.Ile793Thr)
n.1412T>C
c.2447T>C (p.Ile816Thr)
1g.6469081A>TCA338117998PLEKHG5c.2210T>A (p.Ile737Asn)
c.2384T>A (p.Ile795Asn)
c.2321T>A (p.Ile774Asn)
n.2686T>A
c.2417T>A (p.Ile806Asn)
c.2507T>A (p.Ile836Asn)
c.*2422T>A (n.*2422T>A)
n.281T>A
c.*2038T>A (n.*2038T>A)
c.83T>A (p.Ile28Asn)
c.2441T>A (p.Ile814Asn)
c.2378T>A (p.Ile793Asn)
n.1412T>A
c.2447T>A (p.Ile816Asn)
1g.6469081dupCA2574193855PLEKHG5c.2210dup (p.Met738HisfsTer?)
c.2384dup (p.Met796HisfsTer?)
c.2321dup (p.Met775HisfsTer?)
n.2686dup
c.2417dup (p.Met807HisfsTer?)
c.2507dup (p.Met837HisfsTer?)
c.*2422dup (n.*2422dup)
c.2210dup (p.Met738HisfsTer30)
n.281dup
c.*2038dup (n.*2038dup)
c.83dup (p.Met29HisfsTer?)
c.2441dup (p.Met815HisfsTer30)
c.2441dup (p.Met815HisfsTer?)
c.2378dup (p.Met794HisfsTer?)
n.1412dup
c.2447dup (p.Met817HisfsTer?)
1g.6469082T>ACA338118000PLEKHG5c.2209A>T (p.Ile737Phe)
c.2383A>T (p.Ile795Phe)
c.2320A>T (p.Ile774Phe)
n.2685A>T
c.2416A>T (p.Ile806Phe)
c.2506A>T (p.Ile836Phe)
c.*2421A>T (n.*2421A>T)
n.280A>T
c.*2037A>T (n.*2037A>T)
c.82A>T (p.Ile28Phe)
c.2440A>T (p.Ile814Phe)
c.2377A>T (p.Ile793Phe)
n.1411A>T
c.2446A>T (p.Ile816Phe)
1g.6469082T>CCA338118001PLEKHG5c.2209A>G (p.Ile737Val)
c.2383A>G (p.Ile795Val)
c.2320A>G (p.Ile774Val)
n.2685A>G
c.2416A>G (p.Ile806Val)
c.2506A>G (p.Ile836Val)
c.*2421A>G (n.*2421A>G)
n.280A>G
c.*2037A>G (n.*2037A>G)
c.82A>G (p.Ile28Val)
c.2440A>G (p.Ile814Val)
c.2377A>G (p.Ile793Val)
n.1411A>G
c.2446A>G (p.Ile816Val)
 ClinVar dbSNP gnomAD v4
1g.6469082T>GCA338118002PLEKHG5c.2209A>C (p.Ile737Leu)
c.2383A>C (p.Ile795Leu)
c.2320A>C (p.Ile774Leu)
n.2685A>C
c.2416A>C (p.Ile806Leu)
c.2506A>C (p.Ile836Leu)
c.*2421A>C (n.*2421A>C)
n.280A>C
c.*2037A>C (n.*2037A>C)
c.82A>C (p.Ile28Leu)
c.2440A>C (p.Ile814Leu)
c.2377A>C (p.Ile793Leu)
n.1411A>C
c.2446A>C (p.Ile816Leu)
1g.6469082T=CA1151520082PLEKHG5c.2209A= (p.Ile737=)
c.2383A= (p.Ile795=)
c.2320A= (p.Ile774=)
n.2685A=
c.2416A= (p.Ile806=)
c.2506A= (p.Ile836=)
c.*2421A= (n.*2421A=)
n.280A=
c.*2037A= (n.*2037A=)
c.82A= (p.Ile28=)
c.2440A= (p.Ile814=)
c.2377A= (p.Ile793=)
n.1411A=
c.2446A= (p.Ile816=)
1g.6469083G>ACA415831908PLEKHG5c.2208C>T (p.Thr736=)
c.2382C>T (p.Thr794=)
c.2319C>T (p.Thr773=)
n.2684C>T
c.2415C>T (p.Thr805=)
c.2505C>T (p.Thr835=)
c.*2420C>T (n.*2420C>T)
n.279C>T
c.*2036C>T (n.*2036C>T)
c.81C>T (p.Thr27=)
c.2439C>T (p.Thr813=)
c.2376C>T (p.Thr792=)
n.1410C>T
c.2445C>T (p.Thr815=)
1g.6469083G>CCA561219PLEKHG5c.2208C>G (p.Thr736=)
c.2382C>G (p.Thr794=)
c.2319C>G (p.Thr773=)
n.2684C>G
c.2415C>G (p.Thr805=)
c.2505C>G (p.Thr835=)
c.*2420C>G (n.*2420C>G)
n.279C>G
c.*2036C>G (n.*2036C>G)
c.81C>G (p.Thr27=)
c.2439C>G (p.Thr813=)
c.2376C>G (p.Thr792=)
n.1410C>G
c.2445C>G (p.Thr815=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469083G=CA1148472387PLEKHG5c.2208C= (p.Thr736=)
c.2382C= (p.Thr794=)
c.2319C= (p.Thr773=)
n.2684C=
c.2415C= (p.Thr805=)
c.2505C= (p.Thr835=)
c.*2420C= (n.*2420C=)
n.279C=
c.*2036C= (n.*2036C=)
c.81C= (p.Thr27=)
c.2439C= (p.Thr813=)
c.2376C= (p.Thr792=)
n.1410C=
c.2445C= (p.Thr815=)
1g.6469083G>TCA415831909PLEKHG5c.2208C>A (p.Thr736=)
c.2382C>A (p.Thr794=)
c.2319C>A (p.Thr773=)
n.2684C>A
c.2415C>A (p.Thr805=)
c.2505C>A (p.Thr835=)
c.*2420C>A (n.*2420C>A)
n.279C>A
c.*2036C>A (n.*2036C>A)
c.81C>A (p.Thr27=)
c.2439C>A (p.Thr813=)
c.2376C>A (p.Thr792=)
n.1410C>A
c.2445C>A (p.Thr815=)
1g.6469084G>ACA338118003PLEKHG5c.2207C>T (p.Thr736Ile)
c.2381C>T (p.Thr794Ile)
c.2318C>T (p.Thr773Ile)
n.2683C>T
c.2414C>T (p.Thr805Ile)
c.2504C>T (p.Thr835Ile)
c.*2419C>T (n.*2419C>T)
n.278C>T
c.*2035C>T (n.*2035C>T)
c.80C>T (p.Thr27Ile)
c.2438C>T (p.Thr813Ile)
c.2375C>T (p.Thr792Ile)
n.1409C>T
c.2444C>T (p.Thr815Ile)
 gnomAD v4
1g.6469084G>CCA338118004PLEKHG5c.2207C>G (p.Thr736Ser)
c.2381C>G (p.Thr794Ser)
c.2318C>G (p.Thr773Ser)
n.2683C>G
c.2414C>G (p.Thr805Ser)
c.2504C>G (p.Thr835Ser)
c.*2419C>G (n.*2419C>G)
n.278C>G
c.*2035C>G (n.*2035C>G)
c.80C>G (p.Thr27Ser)
c.2438C>G (p.Thr813Ser)
c.2375C>G (p.Thr792Ser)
n.1409C>G
c.2444C>G (p.Thr815Ser)
 gnomAD v4
1g.6469084G=CA1151520095PLEKHG5c.2207C= (p.Thr736=)
c.2381C= (p.Thr794=)
c.2318C= (p.Thr773=)
n.2683C=
c.2414C= (p.Thr805=)
c.2504C= (p.Thr835=)
c.*2419C= (n.*2419C=)
n.278C=
c.*2035C= (n.*2035C=)
c.80C= (p.Thr27=)
c.2438C= (p.Thr813=)
c.2375C= (p.Thr792=)
n.1409C=
c.2444C= (p.Thr815=)
1g.6469084G>TCA338118005PLEKHG5c.2207C>A (p.Thr736Asn)
c.2381C>A (p.Thr794Asn)
c.2318C>A (p.Thr773Asn)
n.2683C>A
c.2414C>A (p.Thr805Asn)
c.2504C>A (p.Thr835Asn)
c.*2419C>A (n.*2419C>A)
n.278C>A
c.*2035C>A (n.*2035C>A)
c.80C>A (p.Thr27Asn)
c.2438C>A (p.Thr813Asn)
c.2375C>A (p.Thr792Asn)
n.1409C>A
c.2444C>A (p.Thr815Asn)
 dbSNP
1g.6469085T>ACA338118006PLEKHG5c.2206A>T (p.Thr736Ser)
c.2380A>T (p.Thr794Ser)
c.2317A>T (p.Thr773Ser)
n.2682A>T
c.2413A>T (p.Thr805Ser)
c.2503A>T (p.Thr835Ser)
c.*2418A>T (n.*2418A>T)
n.277A>T
c.*2034A>T (n.*2034A>T)
c.79A>T (p.Thr27Ser)
c.2437A>T (p.Thr813Ser)
c.2374A>T (p.Thr792Ser)
n.1408A>T
c.2443A>T (p.Thr815Ser)
1g.6469085T>CCA338118008PLEKHG5c.2206A>G (p.Thr736Ala)
c.2380A>G (p.Thr794Ala)
c.2317A>G (p.Thr773Ala)
n.2682A>G
c.2413A>G (p.Thr805Ala)
c.2503A>G (p.Thr835Ala)
c.*2418A>G (n.*2418A>G)
n.277A>G
c.*2034A>G (n.*2034A>G)
c.79A>G (p.Thr27Ala)
c.2437A>G (p.Thr813Ala)
c.2374A>G (p.Thr792Ala)
n.1408A>G
c.2443A>G (p.Thr815Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.6469085T>GCA338118014PLEKHG5c.2206A>C (p.Thr736Pro)
c.2380A>C (p.Thr794Pro)
c.2317A>C (p.Thr773Pro)
n.2682A>C
c.2413A>C (p.Thr805Pro)
c.2503A>C (p.Thr835Pro)
c.*2418A>C (n.*2418A>C)
n.277A>C
c.*2034A>C (n.*2034A>C)
c.79A>C (p.Thr27Pro)
c.2437A>C (p.Thr813Pro)
c.2374A>C (p.Thr792Pro)
n.1408A>C
c.2443A>C (p.Thr815Pro)
1g.6469085T=CA1151520098PLEKHG5c.2206A= (p.Thr736=)
c.2380A= (p.Thr794=)
c.2317A= (p.Thr773=)
n.2682A=
c.2413A= (p.Thr805=)
c.2503A= (p.Thr835=)
c.*2418A= (n.*2418A=)
n.277A=
c.*2034A= (n.*2034A=)
c.79A= (p.Thr27=)
c.2437A= (p.Thr813=)
c.2374A= (p.Thr792=)
n.1408A=
c.2443A= (p.Thr815=)
1g.6469086A>CCA415831910PLEKHG5c.2205T>G (p.Pro735=)
c.2379T>G (p.Pro793=)
c.2316T>G (p.Pro772=)
n.2681T>G
c.2412T>G (p.Pro804=)
c.2502T>G (p.Pro834=)
c.*2417T>G (n.*2417T>G)
n.276T>G
c.*2033T>G (n.*2033T>G)
c.78T>G (p.Pro26=)
c.2436T>G (p.Pro812=)
c.2373T>G (p.Pro791=)
n.1407T>G
c.2442T>G (p.Pro814=)
1g.6469086A>GCA415831911PLEKHG5c.2205T>C (p.Pro735=)
c.2379T>C (p.Pro793=)
c.2316T>C (p.Pro772=)
n.2681T>C
c.2412T>C (p.Pro804=)
c.2502T>C (p.Pro834=)
c.*2417T>C (n.*2417T>C)
n.276T>C
c.*2033T>C (n.*2033T>C)
c.78T>C (p.Pro26=)
c.2436T>C (p.Pro812=)
c.2373T>C (p.Pro791=)
n.1407T>C
c.2442T>C (p.Pro814=)
1g.6469086A>TCA415831912PLEKHG5c.2205T>A (p.Pro735=)
c.2379T>A (p.Pro793=)
c.2316T>A (p.Pro772=)
n.2681T>A
c.2412T>A (p.Pro804=)
c.2502T>A (p.Pro834=)
c.*2417T>A (n.*2417T>A)
n.276T>A
c.*2033T>A (n.*2033T>A)
c.78T>A (p.Pro26=)
c.2436T>A (p.Pro812=)
c.2373T>A (p.Pro791=)
n.1407T>A
c.2442T>A (p.Pro814=)
1g.6469087G>ACA338118017PLEKHG5c.2204C>T (p.Pro735Leu)
c.2378C>T (p.Pro793Leu)
c.2315C>T (p.Pro772Leu)
n.2680C>T
c.2411C>T (p.Pro804Leu)
c.2501C>T (p.Pro834Leu)
c.*2416C>T (n.*2416C>T)
n.275C>T
c.*2032C>T (n.*2032C>T)
c.77C>T (p.Pro26Leu)
c.2435C>T (p.Pro812Leu)
c.2372C>T (p.Pro791Leu)
n.1406C>T
c.2441C>T (p.Pro814Leu)
1g.6469087G>CCA338118019PLEKHG5c.2204C>G (p.Pro735Arg)
c.2378C>G (p.Pro793Arg)
c.2315C>G (p.Pro772Arg)
n.2680C>G
c.2411C>G (p.Pro804Arg)
c.2501C>G (p.Pro834Arg)
c.*2416C>G (n.*2416C>G)
n.275C>G
c.*2032C>G (n.*2032C>G)
c.77C>G (p.Pro26Arg)
c.2435C>G (p.Pro812Arg)
c.2372C>G (p.Pro791Arg)
n.1406C>G
c.2441C>G (p.Pro814Arg)
1g.6469087G>TCA338118021PLEKHG5c.2204C>A (p.Pro735His)
c.2378C>A (p.Pro793His)
c.2315C>A (p.Pro772His)
n.2680C>A
c.2411C>A (p.Pro804His)
c.2501C>A (p.Pro834His)
c.*2416C>A (n.*2416C>A)
n.275C>A
c.*2032C>A (n.*2032C>A)
c.77C>A (p.Pro26His)
c.2435C>A (p.Pro812His)
c.2372C>A (p.Pro791His)
n.1406C>A
c.2441C>A (p.Pro814His)
1g.6469090delCA645511753PLEKHG5c.2204del (p.Pro735LeufsTer30)
c.2378del (p.Pro793LeufsTer30)
c.2315del (p.Pro772LeufsTer30)
n.2680del
c.2411del (p.Pro804LeufsTer30)
c.2501del (p.Pro834LeufsTer30)
c.*2416del (n.*2416del)
c.2204del (p.Pro735LeufsTer18)
n.275del
c.*2032del (n.*2032del)
c.77del (p.Pro26LeufsTer30)
c.2435del (p.Pro812LeufsTer18)
c.2435del (p.Pro812LeufsTer30)
c.2372del (p.Pro791LeufsTer30)
n.1406del
c.2441del (p.Pro814LeufsTer30)
 COSMIC COSMIC COSMIC
1g.6469088G>ACA338118028PLEKHG5c.2203C>T (p.Pro735Ser)
c.2377C>T (p.Pro793Ser)
c.2314C>T (p.Pro772Ser)
n.2679C>T
c.2410C>T (p.Pro804Ser)
c.2500C>T (p.Pro834Ser)
c.*2415C>T (n.*2415C>T)
n.274C>T
c.*2031C>T (n.*2031C>T)
c.76C>T (p.Pro26Ser)
c.2434C>T (p.Pro812Ser)
c.2371C>T (p.Pro791Ser)
n.1405C>T
c.2440C>T (p.Pro814Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.6469088G>CCA338118023PLEKHG5c.2203C>G (p.Pro735Ala)
c.2377C>G (p.Pro793Ala)
c.2314C>G (p.Pro772Ala)
n.2679C>G
c.2410C>G (p.Pro804Ala)
c.2500C>G (p.Pro834Ala)
c.*2415C>G (n.*2415C>G)
n.274C>G
c.*2031C>G (n.*2031C>G)
c.76C>G (p.Pro26Ala)
c.2434C>G (p.Pro812Ala)
c.2371C>G (p.Pro791Ala)
n.1405C>G
c.2440C>G (p.Pro814Ala)
1g.6469088G=CA1151520102PLEKHG5c.2203C= (p.Pro735=)
c.2377C= (p.Pro793=)
c.2314C= (p.Pro772=)
n.2679C=
c.2410C= (p.Pro804=)
c.2500C= (p.Pro834=)
c.*2415C= (n.*2415C=)
n.274C=
c.*2031C= (n.*2031C=)
c.76C= (p.Pro26=)
c.2434C= (p.Pro812=)
c.2371C= (p.Pro791=)
n.1405C=
c.2440C= (p.Pro814=)
1g.6469088G>TCA338118026PLEKHG5c.2203C>A (p.Pro735Thr)
c.2377C>A (p.Pro793Thr)
c.2314C>A (p.Pro772Thr)
n.2679C>A
c.2410C>A (p.Pro804Thr)
c.2500C>A (p.Pro834Thr)
c.*2415C>A (n.*2415C>A)
n.274C>A
c.*2031C>A (n.*2031C>A)
c.76C>A (p.Pro26Thr)
c.2434C>A (p.Pro812Thr)
c.2371C>A (p.Pro791Thr)
n.1405C>A
c.2440C>A (p.Pro814Thr)
1g.6469089G>ACA415831914PLEKHG5c.2202C>T (p.Ser734=)
c.2376C>T (p.Ser792=)
c.2313C>T (p.Ser771=)
n.2678C>T
c.2409C>T (p.Ser803=)
c.2499C>T (p.Ser833=)
c.*2414C>T (n.*2414C>T)
n.273C>T
c.*2030C>T (n.*2030C>T)
c.75C>T (p.Ser25=)
c.2433C>T (p.Ser811=)
c.2370C>T (p.Ser790=)
n.1404C>T
c.2439C>T (p.Ser813=)
1g.6469089G>CCA415831915PLEKHG5c.2202C>G (p.Ser734=)
c.2376C>G (p.Ser792=)
c.2313C>G (p.Ser771=)
n.2678C>G
c.2409C>G (p.Ser803=)
c.2499C>G (p.Ser833=)
c.*2414C>G (n.*2414C>G)
n.273C>G
c.*2030C>G (n.*2030C>G)
c.75C>G (p.Ser25=)
c.2433C>G (p.Ser811=)
c.2370C>G (p.Ser790=)
n.1404C>G
c.2439C>G (p.Ser813=)
1g.6469089G>TCA415831913PLEKHG5c.2202C>A (p.Ser734=)
c.2376C>A (p.Ser792=)
c.2313C>A (p.Ser771=)
n.2678C>A
c.2409C>A (p.Ser803=)
c.2499C>A (p.Ser833=)
c.*2414C>A (n.*2414C>A)
n.273C>A
c.*2030C>A (n.*2030C>A)
c.75C>A (p.Ser25=)
c.2433C>A (p.Ser811=)
c.2370C>A (p.Ser790=)
n.1404C>A
c.2439C>A (p.Ser813=)
1g.6469090G>ACA561220PLEKHG5c.2201C>T (p.Ser734Phe)
c.2375C>T (p.Ser792Phe)
c.2312C>T (p.Ser771Phe)
n.2677C>T
c.2408C>T (p.Ser803Phe)
c.2498C>T (p.Ser833Phe)
c.*2413C>T (n.*2413C>T)
n.272C>T
c.*2029C>T (n.*2029C>T)
c.74C>T (p.Ser25Phe)
c.2432C>T (p.Ser811Phe)
c.2369C>T (p.Ser790Phe)
n.1403C>T
c.2438C>T (p.Ser813Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469090G>CCA338118033PLEKHG5c.2201C>G (p.Ser734Cys)
c.2375C>G (p.Ser792Cys)
c.2312C>G (p.Ser771Cys)
n.2677C>G
c.2408C>G (p.Ser803Cys)
c.2498C>G (p.Ser833Cys)
c.*2413C>G (n.*2413C>G)
n.272C>G
c.*2029C>G (n.*2029C>G)
c.74C>G (p.Ser25Cys)
c.2432C>G (p.Ser811Cys)
c.2369C>G (p.Ser790Cys)
n.1403C>G
c.2438C>G (p.Ser813Cys)
1g.6469090G=CA1146331426PLEKHG5c.2201C= (p.Ser734=)
c.2375C= (p.Ser792=)
c.2312C= (p.Ser771=)
n.2677C=
c.2408C= (p.Ser803=)
c.2498C= (p.Ser833=)
c.*2413C= (n.*2413C=)
n.272C=
c.*2029C= (n.*2029C=)
c.74C= (p.Ser25=)
c.2432C= (p.Ser811=)
c.2369C= (p.Ser790=)
n.1403C=
c.2438C= (p.Ser813=)
1g.6469090G>TCA338118035PLEKHG5c.2201C>A (p.Ser734Tyr)
c.2375C>A (p.Ser792Tyr)
c.2312C>A (p.Ser771Tyr)
n.2677C>A
c.2408C>A (p.Ser803Tyr)
c.2498C>A (p.Ser833Tyr)
c.*2413C>A (n.*2413C>A)
n.272C>A
c.*2029C>A (n.*2029C>A)
c.74C>A (p.Ser25Tyr)
c.2432C>A (p.Ser811Tyr)
c.2369C>A (p.Ser790Tyr)
n.1403C>A
c.2438C>A (p.Ser813Tyr)
 gnomAD v4
1g.6469091A=CA1143951697PLEKHG5c.2200T= (p.Ser734=)
c.2374T= (p.Ser792=)
c.2311T= (p.Ser771=)
n.2676T=
c.2407T= (p.Ser803=)
c.2497T= (p.Ser833=)
c.*2412T= (n.*2412T=)
n.271T=
c.*2028T= (n.*2028T=)
c.73T= (p.Ser25=)
c.2431T= (p.Ser811=)
c.2368T= (p.Ser790=)
n.1402T=
c.2437T= (p.Ser813=)
1g.6469091A>CCA338118037PLEKHG5c.2200T>G (p.Ser734Ala)
c.2374T>G (p.Ser792Ala)
c.2311T>G (p.Ser771Ala)
n.2676T>G
c.2407T>G (p.Ser803Ala)
c.2497T>G (p.Ser833Ala)
c.*2412T>G (n.*2412T>G)
n.271T>G
c.*2028T>G (n.*2028T>G)
c.73T>G (p.Ser25Ala)
c.2431T>G (p.Ser811Ala)
c.2368T>G (p.Ser790Ala)
n.1402T>G
c.2437T>G (p.Ser813Ala)
1g.6469091A>GCA17234741PLEKHG5c.2200T>C (p.Ser734Pro)
c.2374T>C (p.Ser792Pro)
c.2311T>C (p.Ser771Pro)
n.2676T>C
c.2407T>C (p.Ser803Pro)
c.2497T>C (p.Ser833Pro)
c.*2412T>C (n.*2412T>C)
n.271T>C
c.*2028T>C (n.*2028T>C)
c.73T>C (p.Ser25Pro)
c.2431T>C (p.Ser811Pro)
c.2368T>C (p.Ser790Pro)
n.1402T>C
c.2437T>C (p.Ser813Pro)
 dbSNP gnomAD v4
1g.6469091A>TCA338118040PLEKHG5c.2200T>A (p.Ser734Thr)
c.2374T>A (p.Ser792Thr)
c.2311T>A (p.Ser771Thr)
n.2676T>A
c.2407T>A (p.Ser803Thr)
c.2497T>A (p.Ser833Thr)
c.*2412T>A (n.*2412T>A)
n.271T>A
c.*2028T>A (n.*2028T>A)
c.73T>A (p.Ser25Thr)
c.2431T>A (p.Ser811Thr)
c.2368T>A (p.Ser790Thr)
n.1402T>A
c.2437T>A (p.Ser813Thr)
1g.6469092G>ACA17234745PLEKHG5c.2199C>T (p.Ser733=)
c.2373C>T (p.Ser791=)
c.2310C>T (p.Ser770=)
n.2675C>T
c.2406C>T (p.Ser802=)
c.2496C>T (p.Ser832=)
c.*2411C>T (n.*2411C>T)
n.270C>T
c.*2027C>T (n.*2027C>T)
c.72C>T (p.Ser24=)
c.2430C>T (p.Ser810=)
c.2367C>T (p.Ser789=)
n.1401C>T
c.2436C>T (p.Ser812=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469092G>CCA338118044PLEKHG5c.2199C>G (p.Ser733Arg)
c.2373C>G (p.Ser791Arg)
c.2310C>G (p.Ser770Arg)
n.2675C>G
c.2406C>G (p.Ser802Arg)
c.2496C>G (p.Ser832Arg)
c.*2411C>G (n.*2411C>G)
n.270C>G
c.*2027C>G (n.*2027C>G)
c.72C>G (p.Ser24Arg)
c.2430C>G (p.Ser810Arg)
c.2367C>G (p.Ser789Arg)
n.1401C>G
c.2436C>G (p.Ser812Arg)
1g.6469092G=CA1151520118PLEKHG5c.2199C= (p.Ser733=)
c.2373C= (p.Ser791=)
c.2310C= (p.Ser770=)
n.2675C=
c.2406C= (p.Ser802=)
c.2496C= (p.Ser832=)
c.*2411C= (n.*2411C=)
n.270C=
c.*2027C= (n.*2027C=)
c.72C= (p.Ser24=)
c.2430C= (p.Ser810=)
c.2367C= (p.Ser789=)
n.1401C=
c.2436C= (p.Ser812=)
1g.6469092G>TCA338118047PLEKHG5c.2199C>A (p.Ser733Arg)
c.2373C>A (p.Ser791Arg)
c.2310C>A (p.Ser770Arg)
n.2675C>A
c.2406C>A (p.Ser802Arg)
c.2496C>A (p.Ser832Arg)
c.*2411C>A (n.*2411C>A)
n.270C>A
c.*2027C>A (n.*2027C>A)
c.72C>A (p.Ser24Arg)
c.2430C>A (p.Ser810Arg)
c.2367C>A (p.Ser789Arg)
n.1401C>A
c.2436C>A (p.Ser812Arg)
 gnomAD v4
1g.6469093C>ACA338118050PLEKHG5c.2198G>T (p.Ser733Ile)
c.2372G>T (p.Ser791Ile)
c.2309G>T (p.Ser770Ile)
n.2674G>T
c.2405G>T (p.Ser802Ile)
c.2495G>T (p.Ser832Ile)
c.*2410G>T (n.*2410G>T)
n.269G>T
c.*2026G>T (n.*2026G>T)
c.71G>T (p.Ser24Ile)
c.2429G>T (p.Ser810Ile)
c.2366G>T (p.Ser789Ile)
n.1400G>T
c.2435G>T (p.Ser812Ile)
1g.6469093C>GCA338118052PLEKHG5c.2198G>C (p.Ser733Thr)
c.2372G>C (p.Ser791Thr)
c.2309G>C (p.Ser770Thr)
n.2674G>C
c.2405G>C (p.Ser802Thr)
c.2495G>C (p.Ser832Thr)
c.*2410G>C (n.*2410G>C)
n.269G>C
c.*2026G>C (n.*2026G>C)
c.71G>C (p.Ser24Thr)
c.2429G>C (p.Ser810Thr)
c.2366G>C (p.Ser789Thr)
n.1400G>C
c.2435G>C (p.Ser812Thr)
1g.6469093C>TCA338118054PLEKHG5c.2198G>A (p.Ser733Asn)
c.2372G>A (p.Ser791Asn)
c.2309G>A (p.Ser770Asn)
n.2674G>A
c.2405G>A (p.Ser802Asn)
c.2495G>A (p.Ser832Asn)
c.*2410G>A (n.*2410G>A)
n.269G>A
c.*2026G>A (n.*2026G>A)
c.71G>A (p.Ser24Asn)
c.2429G>A (p.Ser810Asn)
c.2366G>A (p.Ser789Asn)
n.1400G>A
c.2435G>A (p.Ser812Asn)
1g.6469094T>ACA338118057PLEKHG5c.2197A>T (p.Ser733Cys)
c.2371A>T (p.Ser791Cys)
c.2308A>T (p.Ser770Cys)
n.2673A>T
c.2404A>T (p.Ser802Cys)
c.2494A>T (p.Ser832Cys)
c.*2409A>T (n.*2409A>T)
n.268A>T
c.*2025A>T (n.*2025A>T)
c.70A>T (p.Ser24Cys)
c.2428A>T (p.Ser810Cys)
c.2365A>T (p.Ser789Cys)
n.1399A>T
c.2434A>T (p.Ser812Cys)
1g.6469094T>CCA338118063PLEKHG5c.2197A>G (p.Ser733Gly)
c.2371A>G (p.Ser791Gly)
c.2308A>G (p.Ser770Gly)
n.2673A>G
c.2404A>G (p.Ser802Gly)
c.2494A>G (p.Ser832Gly)
c.*2409A>G (n.*2409A>G)
n.268A>G
c.*2025A>G (n.*2025A>G)
c.70A>G (p.Ser24Gly)
c.2428A>G (p.Ser810Gly)
c.2365A>G (p.Ser789Gly)
n.1399A>G
c.2434A>G (p.Ser812Gly)
1g.6469094T>GCA338118060PLEKHG5c.2197A>C (p.Ser733Arg)
c.2371A>C (p.Ser791Arg)
c.2308A>C (p.Ser770Arg)
n.2673A>C
c.2404A>C (p.Ser802Arg)
c.2494A>C (p.Ser832Arg)
c.*2409A>C (n.*2409A>C)
n.268A>C
c.*2025A>C (n.*2025A>C)
c.70A>C (p.Ser24Arg)
c.2428A>C (p.Ser810Arg)
c.2365A>C (p.Ser789Arg)
n.1399A>C
c.2434A>C (p.Ser812Arg)
1g.6469095G>ACA415831917PLEKHG5c.2196C>T (p.Ala732=)
c.2370C>T (p.Ala790=)
c.2307C>T (p.Ala769=)
n.2672C>T
c.2403C>T (p.Ala801=)
c.2493C>T (p.Ala831=)
c.*2408C>T (n.*2408C>T)
n.267C>T
c.*2024C>T (n.*2024C>T)
c.69C>T (p.Ala23=)
c.2427C>T (p.Ala809=)
c.2364C>T (p.Ala788=)
n.1398C>T
c.2433C>T (p.Ala811=)
1g.6469095G>CCA415831918PLEKHG5c.2196C>G (p.Ala732=)
c.2370C>G (p.Ala790=)
c.2307C>G (p.Ala769=)
n.2672C>G
c.2403C>G (p.Ala801=)
c.2493C>G (p.Ala831=)
c.*2408C>G (n.*2408C>G)
n.267C>G
c.*2024C>G (n.*2024C>G)
c.69C>G (p.Ala23=)
c.2427C>G (p.Ala809=)
c.2364C>G (p.Ala788=)
n.1398C>G
c.2433C>G (p.Ala811=)
1g.6469095G>TCA415831919PLEKHG5c.2196C>A (p.Ala732=)
c.2370C>A (p.Ala790=)
c.2307C>A (p.Ala769=)
n.2672C>A
c.2403C>A (p.Ala801=)
c.2493C>A (p.Ala831=)
c.*2408C>A (n.*2408C>A)
n.267C>A
c.*2024C>A (n.*2024C>A)
c.69C>A (p.Ala23=)
c.2427C>A (p.Ala809=)
c.2364C>A (p.Ala788=)
n.1398C>A
c.2433C>A (p.Ala811=)
1g.6469096G>ACA338118066PLEKHG5c.2195C>T (p.Ala732Val)
c.2369C>T (p.Ala790Val)
c.2306C>T (p.Ala769Val)
n.2671C>T
c.2402C>T (p.Ala801Val)
c.2492C>T (p.Ala831Val)
c.*2407C>T (n.*2407C>T)
n.266C>T
c.*2023C>T (n.*2023C>T)
c.68C>T (p.Ala23Val)
c.2426C>T (p.Ala809Val)
c.2363C>T (p.Ala788Val)
n.1397C>T
c.2432C>T (p.Ala811Val)
 dbSNP gnomAD v3 gnomAD v4
1g.6469096G>CCA338118070PLEKHG5c.2195C>G (p.Ala732Gly)
c.2369C>G (p.Ala790Gly)
c.2306C>G (p.Ala769Gly)
n.2671C>G
c.2402C>G (p.Ala801Gly)
c.2492C>G (p.Ala831Gly)
c.*2407C>G (n.*2407C>G)
n.266C>G
c.*2023C>G (n.*2023C>G)
c.68C>G (p.Ala23Gly)
c.2426C>G (p.Ala809Gly)
c.2363C>G (p.Ala788Gly)
n.1397C>G
c.2432C>G (p.Ala811Gly)
1g.6469096G=CA1151520122PLEKHG5c.2195C= (p.Ala732=)
c.2369C= (p.Ala790=)
c.2306C= (p.Ala769=)
n.2671C=
c.2402C= (p.Ala801=)
c.2492C= (p.Ala831=)
c.*2407C= (n.*2407C=)
n.266C=
c.*2023C= (n.*2023C=)
c.68C= (p.Ala23=)
c.2426C= (p.Ala809=)
c.2363C= (p.Ala788=)
n.1397C=
c.2432C= (p.Ala811=)
1g.6469096G>TCA338118068PLEKHG5c.2195C>A (p.Ala732Asp)
c.2369C>A (p.Ala790Asp)
c.2306C>A (p.Ala769Asp)
n.2671C>A
c.2402C>A (p.Ala801Asp)
c.2492C>A (p.Ala831Asp)
c.*2407C>A (n.*2407C>A)
n.266C>A
c.*2023C>A (n.*2023C>A)
c.68C>A (p.Ala23Asp)
c.2426C>A (p.Ala809Asp)
c.2363C>A (p.Ala788Asp)
n.1397C>A
c.2432C>A (p.Ala811Asp)
 gnomAD v4
1g.6469097C>ACA338118073PLEKHG5c.2194G>T (p.Ala732Ser)
c.2368G>T (p.Ala790Ser)
c.2305G>T (p.Ala769Ser)
n.2670G>T
c.2401G>T (p.Ala801Ser)
c.2491G>T (p.Ala831Ser)
c.*2406G>T (n.*2406G>T)
n.265G>T
c.*2022G>T (n.*2022G>T)
c.67G>T (p.Ala23Ser)
c.2425G>T (p.Ala809Ser)
c.2362G>T (p.Ala788Ser)
n.1396G>T
c.2431G>T (p.Ala811Ser)
1g.6469097C=CA1151520127PLEKHG5c.2194G= (p.Ala732=)
c.2368G= (p.Ala790=)
c.2305G= (p.Ala769=)
n.2670G=
c.2401G= (p.Ala801=)
c.2491G= (p.Ala831=)
c.*2406G= (n.*2406G=)
n.265G=
c.*2022G= (n.*2022G=)
c.67G= (p.Ala23=)
c.2425G= (p.Ala809=)
c.2362G= (p.Ala788=)
n.1396G=
c.2431G= (p.Ala811=)
1g.6469097C>GCA338118075PLEKHG5c.2194G>C (p.Ala732Pro)
c.2368G>C (p.Ala790Pro)
c.2305G>C (p.Ala769Pro)
n.2670G>C
c.2401G>C (p.Ala801Pro)
c.2491G>C (p.Ala831Pro)
c.*2406G>C (n.*2406G>C)
n.265G>C
c.*2022G>C (n.*2022G>C)
c.67G>C (p.Ala23Pro)
c.2425G>C (p.Ala809Pro)
c.2362G>C (p.Ala788Pro)
n.1396G>C
c.2431G>C (p.Ala811Pro)
1g.6469097C>TCA338118077PLEKHG5c.2194G>A (p.Ala732Thr)
c.2368G>A (p.Ala790Thr)
c.2305G>A (p.Ala769Thr)
n.2670G>A
c.2401G>A (p.Ala801Thr)
c.2491G>A (p.Ala831Thr)
c.*2406G>A (n.*2406G>A)
n.265G>A
c.*2022G>A (n.*2022G>A)
c.67G>A (p.Ala23Thr)
c.2425G>A (p.Ala809Thr)
c.2362G>A (p.Ala788Thr)
n.1396G>A
c.2431G>A (p.Ala811Thr)
 dbSNP gnomAD v2
1g.6469098A>CCA415831920PLEKHG5c.2193T>G (p.Ala731=)
c.2367T>G (p.Ala789=)
c.2304T>G (p.Ala768=)
n.2669T>G
c.2400T>G (p.Ala800=)
c.2490T>G (p.Ala830=)
c.*2405T>G (n.*2405T>G)
n.264T>G
c.*2021T>G (n.*2021T>G)
c.66T>G (p.Ala22=)
c.2424T>G (p.Ala808=)
c.2361T>G (p.Ala787=)
n.1395T>G
c.2430T>G (p.Ala810=)
 gnomAD v4
1g.6469098A>GCA415831921PLEKHG5c.2193T>C (p.Ala731=)
c.2367T>C (p.Ala789=)
c.2304T>C (p.Ala768=)
n.2669T>C
c.2400T>C (p.Ala800=)
c.2490T>C (p.Ala830=)
c.*2405T>C (n.*2405T>C)
n.264T>C
c.*2021T>C (n.*2021T>C)
c.66T>C (p.Ala22=)
c.2424T>C (p.Ala808=)
c.2361T>C (p.Ala787=)
n.1395T>C
c.2430T>C (p.Ala810=)
1g.6469098A>TCA415831922PLEKHG5c.2193T>A (p.Ala731=)
c.2367T>A (p.Ala789=)
c.2304T>A (p.Ala768=)
n.2669T>A
c.2400T>A (p.Ala800=)
c.2490T>A (p.Ala830=)
c.*2405T>A (n.*2405T>A)
n.264T>A
c.*2021T>A (n.*2021T>A)
c.66T>A (p.Ala22=)
c.2424T>A (p.Ala808=)
c.2361T>A (p.Ala787=)
n.1395T>A
c.2430T>A (p.Ala810=)
1g.6469099G>ACA338118080PLEKHG5c.2192C>T (p.Ala731Val)
c.2366C>T (p.Ala789Val)
c.2303C>T (p.Ala768Val)
n.2668C>T
c.2399C>T (p.Ala800Val)
c.2489C>T (p.Ala830Val)
c.*2404C>T (n.*2404C>T)
n.263C>T
c.*2020C>T (n.*2020C>T)
c.65C>T (p.Ala22Val)
c.2423C>T (p.Ala808Val)
c.2360C>T (p.Ala787Val)
n.1394C>T
c.2429C>T (p.Ala810Val)
1g.6469099G>CCA338118082PLEKHG5c.2192C>G (p.Ala731Gly)
c.2366C>G (p.Ala789Gly)
c.2303C>G (p.Ala768Gly)
n.2668C>G
c.2399C>G (p.Ala800Gly)
c.2489C>G (p.Ala830Gly)
c.*2404C>G (n.*2404C>G)
n.263C>G
c.*2020C>G (n.*2020C>G)
c.65C>G (p.Ala22Gly)
c.2423C>G (p.Ala808Gly)
c.2360C>G (p.Ala787Gly)
n.1394C>G
c.2429C>G (p.Ala810Gly)
1g.6469099G>TCA338118083PLEKHG5c.2192C>A (p.Ala731Asp)
c.2366C>A (p.Ala789Asp)
c.2303C>A (p.Ala768Asp)
n.2668C>A
c.2399C>A (p.Ala800Asp)
c.2489C>A (p.Ala830Asp)
c.*2404C>A (n.*2404C>A)
n.263C>A
c.*2020C>A (n.*2020C>A)
c.65C>A (p.Ala22Asp)
c.2423C>A (p.Ala808Asp)
c.2360C>A (p.Ala787Asp)
n.1394C>A
c.2429C>A (p.Ala810Asp)
1g.6469100C>ACA338118087PLEKHG5c.2191G>T (p.Ala731Ser)
c.2365G>T (p.Ala789Ser)
c.2302G>T (p.Ala768Ser)
n.2667G>T
c.2398G>T (p.Ala800Ser)
c.2488G>T (p.Ala830Ser)
c.*2403G>T (n.*2403G>T)
n.262G>T
c.*2019G>T (n.*2019G>T)
c.64G>T (p.Ala22Ser)
c.2422G>T (p.Ala808Ser)
c.2359G>T (p.Ala787Ser)
n.1393G>T
c.2428G>T (p.Ala810Ser)
1g.6469100C>GCA338118089PLEKHG5c.2191G>C (p.Ala731Pro)
c.2365G>C (p.Ala789Pro)
c.2302G>C (p.Ala768Pro)
n.2667G>C
c.2398G>C (p.Ala800Pro)
c.2488G>C (p.Ala830Pro)
c.*2403G>C (n.*2403G>C)
n.262G>C
c.*2019G>C (n.*2019G>C)
c.64G>C (p.Ala22Pro)
c.2422G>C (p.Ala808Pro)
c.2359G>C (p.Ala787Pro)
n.1393G>C
c.2428G>C (p.Ala810Pro)
1g.6469100C>TCA338118091PLEKHG5c.2191G>A (p.Ala731Thr)
c.2365G>A (p.Ala789Thr)
c.2302G>A (p.Ala768Thr)
n.2667G>A
c.2398G>A (p.Ala800Thr)
c.2488G>A (p.Ala830Thr)
c.*2403G>A (n.*2403G>A)
n.262G>A
c.*2019G>A (n.*2019G>A)
c.64G>A (p.Ala22Thr)
c.2422G>A (p.Ala808Thr)
c.2359G>A (p.Ala787Thr)
n.1393G>A
c.2428G>A (p.Ala810Thr)
1g.6469101T>ACA415831923PLEKHG5c.2190A>T (p.Ser730=)
c.2364A>T (p.Ser788=)
c.2301A>T (p.Ser767=)
n.2666A>T
c.2397A>T (p.Ser799=)
c.2487A>T (p.Ser829=)
c.*2402A>T (n.*2402A>T)
n.261A>T
c.*2018A>T (n.*2018A>T)
c.63A>T (p.Ser21=)
c.2421A>T (p.Ser807=)
c.2358A>T (p.Ser786=)
n.1392A>T
c.2427A>T (p.Ser809=)
1g.6469101T>CCA415831925PLEKHG5c.2190A>G (p.Ser730=)
c.2364A>G (p.Ser788=)
c.2301A>G (p.Ser767=)
n.2666A>G
c.2397A>G (p.Ser799=)
c.2487A>G (p.Ser829=)
c.*2402A>G (n.*2402A>G)
n.261A>G
c.*2018A>G (n.*2018A>G)
c.63A>G (p.Ser21=)
c.2421A>G (p.Ser807=)
c.2358A>G (p.Ser786=)
n.1392A>G
c.2427A>G (p.Ser809=)
 gnomAD v4
1g.6469101T>GCA415831924PLEKHG5c.2190A>C (p.Ser730=)
c.2364A>C (p.Ser788=)
c.2301A>C (p.Ser767=)
n.2666A>C
c.2397A>C (p.Ser799=)
c.2487A>C (p.Ser829=)
c.*2402A>C (n.*2402A>C)
n.261A>C
c.*2018A>C (n.*2018A>C)
c.63A>C (p.Ser21=)
c.2421A>C (p.Ser807=)
c.2358A>C (p.Ser786=)
n.1392A>C
c.2427A>C (p.Ser809=)
1g.6469102G>ACA338118092PLEKHG5c.2189C>T (p.Ser730Leu)
c.2363C>T (p.Ser788Leu)
c.2300C>T (p.Ser767Leu)
n.2665C>T
c.2396C>T (p.Ser799Leu)
c.2486C>T (p.Ser829Leu)
c.*2401C>T (n.*2401C>T)
n.260C>T
c.*2017C>T (n.*2017C>T)
c.62C>T (p.Ser21Leu)
c.2420C>T (p.Ser807Leu)
c.2357C>T (p.Ser786Leu)
n.1391C>T
c.2426C>T (p.Ser809Leu)
 dbSNP gnomAD v4
1g.6469102G>CCA338118093PLEKHG5c.2189C>G (p.Ser730Ter)
c.2363C>G (p.Ser788Ter)
c.2300C>G (p.Ser767Ter)
n.2665C>G
c.2396C>G (p.Ser799Ter)
c.2486C>G (p.Ser829Ter)
c.*2401C>G (n.*2401C>G)
n.260C>G
c.*2017C>G (n.*2017C>G)
c.62C>G (p.Ser21Ter)
c.2420C>G (p.Ser807Ter)
c.2357C>G (p.Ser786Ter)
n.1391C>G
c.2426C>G (p.Ser809Ter)
1g.6469102G=CA1151520131PLEKHG5c.2189C= (p.Ser730=)
c.2363C= (p.Ser788=)
c.2300C= (p.Ser767=)
n.2665C=
c.2396C= (p.Ser799=)
c.2486C= (p.Ser829=)
c.*2401C= (n.*2401C=)
n.260C=
c.*2017C= (n.*2017C=)
c.62C= (p.Ser21=)
c.2420C= (p.Ser807=)
c.2357C= (p.Ser786=)
n.1391C=
c.2426C= (p.Ser809=)
1g.6469102G>TCA338118095PLEKHG5c.2189C>A (p.Ser730Ter)
c.2363C>A (p.Ser788Ter)
c.2300C>A (p.Ser767Ter)
n.2665C>A
c.2396C>A (p.Ser799Ter)
c.2486C>A (p.Ser829Ter)
c.*2401C>A (n.*2401C>A)
n.260C>A
c.*2017C>A (n.*2017C>A)
c.62C>A (p.Ser21Ter)
c.2420C>A (p.Ser807Ter)
c.2357C>A (p.Ser786Ter)
n.1391C>A
c.2426C>A (p.Ser809Ter)
1g.6469103A=CA1151520134PLEKHG5c.2188T= (p.Ser730=)
c.2362T= (p.Ser788=)
c.2299T= (p.Ser767=)
n.2664T=
c.2395T= (p.Ser799=)
c.2485T= (p.Ser829=)
c.*2400T= (n.*2400T=)
n.259T=
c.*2016T= (n.*2016T=)
c.61T= (p.Ser21=)
c.2419T= (p.Ser807=)
c.2356T= (p.Ser786=)
n.1390T=
c.2425T= (p.Ser809=)
1g.6469103A>CCA338118097PLEKHG5c.2188T>G (p.Ser730Ala)
c.2362T>G (p.Ser788Ala)
c.2299T>G (p.Ser767Ala)
n.2664T>G
c.2395T>G (p.Ser799Ala)
c.2485T>G (p.Ser829Ala)
c.*2400T>G (n.*2400T>G)
n.259T>G
c.*2016T>G (n.*2016T>G)
c.61T>G (p.Ser21Ala)
c.2419T>G (p.Ser807Ala)
c.2356T>G (p.Ser786Ala)
n.1390T>G
c.2425T>G (p.Ser809Ala)
1g.6469103A>GCA338118099PLEKHG5c.2188T>C (p.Ser730Pro)
c.2362T>C (p.Ser788Pro)
c.2299T>C (p.Ser767Pro)
n.2664T>C
c.2395T>C (p.Ser799Pro)
c.2485T>C (p.Ser829Pro)
c.*2400T>C (n.*2400T>C)
n.259T>C
c.*2016T>C (n.*2016T>C)
c.61T>C (p.Ser21Pro)
c.2419T>C (p.Ser807Pro)
c.2356T>C (p.Ser786Pro)
n.1390T>C
c.2425T>C (p.Ser809Pro)
 dbSNP gnomAD v4
1g.6469103A>TCA338118098PLEKHG5c.2188T>A (p.Ser730Thr)
c.2362T>A (p.Ser788Thr)
c.2299T>A (p.Ser767Thr)
n.2664T>A
c.2395T>A (p.Ser799Thr)
c.2485T>A (p.Ser829Thr)
c.*2400T>A (n.*2400T>A)
n.259T>A
c.*2016T>A (n.*2016T>A)
c.61T>A (p.Ser21Thr)
c.2419T>A (p.Ser807Thr)
c.2356T>A (p.Ser786Thr)
n.1390T>A
c.2425T>A (p.Ser809Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469104A>CCA415831926PLEKHG5c.2187T>G (p.Thr729=)
c.2361T>G (p.Thr787=)
c.2298T>G (p.Thr766=)
n.2663T>G
c.2394T>G (p.Thr798=)
c.2484T>G (p.Thr828=)
c.*2399T>G (n.*2399T>G)
n.258T>G
c.*2015T>G (n.*2015T>G)
c.60T>G (p.Thr20=)
c.2418T>G (p.Thr806=)
c.2355T>G (p.Thr785=)
n.1389T>G
c.2424T>G (p.Thr808=)
1g.6469104A>GCA415831927PLEKHG5c.2187T>C (p.Thr729=)
c.2361T>C (p.Thr787=)
c.2298T>C (p.Thr766=)
n.2663T>C
c.2394T>C (p.Thr798=)
c.2484T>C (p.Thr828=)
c.*2399T>C (n.*2399T>C)
n.258T>C
c.*2015T>C (n.*2015T>C)
c.60T>C (p.Thr20=)
c.2418T>C (p.Thr806=)
c.2355T>C (p.Thr785=)
n.1389T>C
c.2424T>C (p.Thr808=)
1g.6469104A>TCA415831928PLEKHG5c.2187T>A (p.Thr729=)
c.2361T>A (p.Thr787=)
c.2298T>A (p.Thr766=)
n.2663T>A
c.2394T>A (p.Thr798=)
c.2484T>A (p.Thr828=)
c.*2399T>A (n.*2399T>A)
n.258T>A
c.*2015T>A (n.*2015T>A)
c.60T>A (p.Thr20=)
c.2418T>A (p.Thr806=)
c.2355T>A (p.Thr785=)
n.1389T>A
c.2424T>A (p.Thr808=)
 gnomAD v4
1g.6469105G>ACA338118100PLEKHG5c.2186C>T (p.Thr729Ile)
c.2360C>T (p.Thr787Ile)
c.2297C>T (p.Thr766Ile)
n.2662C>T
c.2393C>T (p.Thr798Ile)
c.2483C>T (p.Thr828Ile)
c.*2398C>T (n.*2398C>T)
n.257C>T
c.*2014C>T (n.*2014C>T)
c.59C>T (p.Thr20Ile)
c.2417C>T (p.Thr806Ile)
c.2354C>T (p.Thr785Ile)
n.1388C>T
c.2423C>T (p.Thr808Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.6469105G>CCA338118102PLEKHG5c.2186C>G (p.Thr729Ser)
c.2360C>G (p.Thr787Ser)
c.2297C>G (p.Thr766Ser)
n.2662C>G
c.2393C>G (p.Thr798Ser)
c.2483C>G (p.Thr828Ser)
c.*2398C>G (n.*2398C>G)
n.257C>G
c.*2014C>G (n.*2014C>G)
c.59C>G (p.Thr20Ser)
c.2417C>G (p.Thr806Ser)
c.2354C>G (p.Thr785Ser)
n.1388C>G
c.2423C>G (p.Thr808Ser)
 gnomAD v4
1g.6469105G=CA1151520139PLEKHG5c.2186C= (p.Thr729=)
c.2360C= (p.Thr787=)
c.2297C= (p.Thr766=)
n.2662C=
c.2393C= (p.Thr798=)
c.2483C= (p.Thr828=)
c.*2398C= (n.*2398C=)
n.257C=
c.*2014C= (n.*2014C=)
c.59C= (p.Thr20=)
c.2417C= (p.Thr806=)
c.2354C= (p.Thr785=)
n.1388C=
c.2423C= (p.Thr808=)
1g.6469105G>TCA338118103PLEKHG5c.2186C>A (p.Thr729Asn)
c.2360C>A (p.Thr787Asn)
c.2297C>A (p.Thr766Asn)
n.2662C>A
c.2393C>A (p.Thr798Asn)
c.2483C>A (p.Thr828Asn)
c.*2398C>A (n.*2398C>A)
n.257C>A
c.*2014C>A (n.*2014C>A)
c.59C>A (p.Thr20Asn)
c.2417C>A (p.Thr806Asn)
c.2354C>A (p.Thr785Asn)
n.1388C>A
c.2423C>A (p.Thr808Asn)
1g.6469106T>ACA338118106PLEKHG5c.2185A>T (p.Thr729Ser)
c.2359A>T (p.Thr787Ser)
c.2296A>T (p.Thr766Ser)
n.2661A>T
c.2392A>T (p.Thr798Ser)
c.2482A>T (p.Thr828Ser)
c.*2397A>T (n.*2397A>T)
n.256A>T
c.*2013A>T (n.*2013A>T)
c.58A>T (p.Thr20Ser)
c.2416A>T (p.Thr806Ser)
c.2353A>T (p.Thr785Ser)
n.1387A>T
c.2422A>T (p.Thr808Ser)
1g.6469106T>CCA338118111PLEKHG5c.2185A>G (p.Thr729Ala)
c.2359A>G (p.Thr787Ala)
c.2296A>G (p.Thr766Ala)
n.2661A>G
c.2392A>G (p.Thr798Ala)
c.2482A>G (p.Thr828Ala)
c.*2397A>G (n.*2397A>G)
n.256A>G
c.*2013A>G (n.*2013A>G)
c.58A>G (p.Thr20Ala)
c.2416A>G (p.Thr806Ala)
c.2353A>G (p.Thr785Ala)
n.1387A>G
c.2422A>G (p.Thr808Ala)
1g.6469106T>GCA561221PLEKHG5c.2185A>C (p.Thr729Pro)
c.2359A>C (p.Thr787Pro)
c.2296A>C (p.Thr766Pro)
n.2661A>C
c.2392A>C (p.Thr798Pro)
c.2482A>C (p.Thr828Pro)
c.*2397A>C (n.*2397A>C)
n.256A>C
c.*2013A>C (n.*2013A>C)
c.58A>C (p.Thr20Pro)
c.2416A>C (p.Thr806Pro)
c.2353A>C (p.Thr785Pro)
n.1387A>C
c.2422A>C (p.Thr808Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469106T=CA1149144059PLEKHG5c.2185A= (p.Thr729=)
c.2359A= (p.Thr787=)
c.2296A= (p.Thr766=)
n.2661A=
c.2392A= (p.Thr798=)
c.2482A= (p.Thr828=)
c.*2397A= (n.*2397A=)
n.256A=
c.*2013A= (n.*2013A=)
c.58A= (p.Thr20=)
c.2416A= (p.Thr806=)
c.2353A= (p.Thr785=)
n.1387A=
c.2422A= (p.Thr808=)
1g.6469107G>ACA415831929PLEKHG5c.2184C>T (p.Gly728=)
c.2358C>T (p.Gly786=)
c.2295C>T (p.Gly765=)
n.2660C>T
c.2391C>T (p.Gly797=)
c.2481C>T (p.Gly827=)
c.*2396C>T (n.*2396C>T)
n.255C>T
c.*2012C>T (n.*2012C>T)
c.57C>T (p.Gly19=)
c.2415C>T (p.Gly805=)
c.2352C>T (p.Gly784=)
n.1386C>T
c.2421C>T (p.Gly807=)
1g.6469107G>CCA415831930PLEKHG5c.2184C>G (p.Gly728=)
c.2358C>G (p.Gly786=)
c.2295C>G (p.Gly765=)
n.2660C>G
c.2391C>G (p.Gly797=)
c.2481C>G (p.Gly827=)
c.*2396C>G (n.*2396C>G)
n.255C>G
c.*2012C>G (n.*2012C>G)
c.57C>G (p.Gly19=)
c.2415C>G (p.Gly805=)
c.2352C>G (p.Gly784=)
n.1386C>G
c.2421C>G (p.Gly807=)
1g.6469107G>TCA415831931PLEKHG5c.2184C>A (p.Gly728=)
c.2358C>A (p.Gly786=)
c.2295C>A (p.Gly765=)
n.2660C>A
c.2391C>A (p.Gly797=)
c.2481C>A (p.Gly827=)
c.*2396C>A (n.*2396C>A)
n.255C>A
c.*2012C>A (n.*2012C>A)
c.57C>A (p.Gly19=)
c.2415C>A (p.Gly805=)
c.2352C>A (p.Gly784=)
n.1386C>A
c.2421C>A (p.Gly807=)
 gnomAD v4
1g.6469108C>ACA338118115PLEKHG5c.2183G>T (p.Gly728Val)
c.2357G>T (p.Gly786Val)
c.2294G>T (p.Gly765Val)
n.2659G>T
c.2390G>T (p.Gly797Val)
c.2480G>T (p.Gly827Val)
c.*2395G>T (n.*2395G>T)
n.254G>T
c.*2011G>T (n.*2011G>T)
c.56G>T (p.Gly19Val)
c.2414G>T (p.Gly805Val)
c.2351G>T (p.Gly784Val)
n.1385G>T
c.2420G>T (p.Gly807Val)
1g.6469108C>GCA338118116PLEKHG5c.2183G>C (p.Gly728Ala)
c.2357G>C (p.Gly786Ala)
c.2294G>C (p.Gly765Ala)
n.2659G>C
c.2390G>C (p.Gly797Ala)
c.2480G>C (p.Gly827Ala)
c.*2395G>C (n.*2395G>C)
n.254G>C
c.*2011G>C (n.*2011G>C)
c.56G>C (p.Gly19Ala)
c.2414G>C (p.Gly805Ala)
c.2351G>C (p.Gly784Ala)
n.1385G>C
c.2420G>C (p.Gly807Ala)
1g.6469108C>TCA338118117PLEKHG5c.2183G>A (p.Gly728Asp)
c.2357G>A (p.Gly786Asp)
c.2294G>A (p.Gly765Asp)
n.2659G>A
c.2390G>A (p.Gly797Asp)
c.2480G>A (p.Gly827Asp)
c.*2395G>A (n.*2395G>A)
n.254G>A
c.*2011G>A (n.*2011G>A)
c.56G>A (p.Gly19Asp)
c.2414G>A (p.Gly805Asp)
c.2351G>A (p.Gly784Asp)
n.1385G>A
c.2420G>A (p.Gly807Asp)
 gnomAD v4
1g.6469109C>ACA338118120PLEKHG5c.2182G>T (p.Gly728Cys)
c.2356G>T (p.Gly786Cys)
c.2293G>T (p.Gly765Cys)
n.2658G>T
c.2389G>T (p.Gly797Cys)
c.2479G>T (p.Gly827Cys)
c.*2394G>T (n.*2394G>T)
n.253G>T
c.*2010G>T (n.*2010G>T)
c.55G>T (p.Gly19Cys)
c.2413G>T (p.Gly805Cys)
c.2350G>T (p.Gly784Cys)
n.1384G>T
c.2419G>T (p.Gly807Cys)
1g.6469109C>GCA338118122PLEKHG5c.2182G>C (p.Gly728Arg)
c.2356G>C (p.Gly786Arg)
c.2293G>C (p.Gly765Arg)
n.2658G>C
c.2389G>C (p.Gly797Arg)
c.2479G>C (p.Gly827Arg)
c.*2394G>C (n.*2394G>C)
n.253G>C
c.*2010G>C (n.*2010G>C)
c.55G>C (p.Gly19Arg)
c.2413G>C (p.Gly805Arg)
c.2350G>C (p.Gly784Arg)
n.1384G>C
c.2419G>C (p.Gly807Arg)
1g.6469109C>TCA338118118PLEKHG5c.2182G>A (p.Gly728Ser)
c.2356G>A (p.Gly786Ser)
c.2293G>A (p.Gly765Ser)
n.2658G>A
c.2389G>A (p.Gly797Ser)
c.2479G>A (p.Gly827Ser)
c.*2394G>A (n.*2394G>A)
n.253G>A
c.*2010G>A (n.*2010G>A)
c.55G>A (p.Gly19Ser)
c.2413G>A (p.Gly805Ser)
c.2350G>A (p.Gly784Ser)
n.1384G>A
c.2419G>A (p.Gly807Ser)
1g.6469110A=CA1148425750PLEKHG5c.2181T= (p.Ser727=)
c.2355T= (p.Ser785=)
c.2292T= (p.Ser764=)
n.2657T=
c.2388T= (p.Ser796=)
c.2478T= (p.Ser826=)
c.*2393T= (n.*2393T=)
n.252T=
c.*2009T= (n.*2009T=)
c.54T= (p.Ser18=)
c.2412T= (p.Ser804=)
c.2349T= (p.Ser783=)
n.1383T=
c.2418T= (p.Ser806=)
1g.6469110A>CCA338118124PLEKHG5c.2181T>G (p.Ser727Arg)
c.2355T>G (p.Ser785Arg)
c.2292T>G (p.Ser764Arg)
n.2657T>G
c.2388T>G (p.Ser796Arg)
c.2478T>G (p.Ser826Arg)
c.*2393T>G (n.*2393T>G)
n.252T>G
c.*2009T>G (n.*2009T>G)
c.54T>G (p.Ser18Arg)
c.2412T>G (p.Ser804Arg)
c.2349T>G (p.Ser783Arg)
n.1383T>G
c.2418T>G (p.Ser806Arg)
1g.6469110A>GCA561222PLEKHG5c.2181T>C (p.Ser727=)
c.2355T>C (p.Ser785=)
c.2292T>C (p.Ser764=)
n.2657T>C
c.2388T>C (p.Ser796=)
c.2478T>C (p.Ser826=)
c.*2393T>C (n.*2393T>C)
n.252T>C
c.*2009T>C (n.*2009T>C)
c.54T>C (p.Ser18=)
c.2412T>C (p.Ser804=)
c.2349T>C (p.Ser783=)
n.1383T>C
c.2418T>C (p.Ser806=)
 dbSNP ExAC
1g.6469110A>TCA338118129PLEKHG5c.2181T>A (p.Ser727Arg)
c.2355T>A (p.Ser785Arg)
c.2292T>A (p.Ser764Arg)
n.2657T>A
c.2388T>A (p.Ser796Arg)
c.2478T>A (p.Ser826Arg)
c.*2393T>A (n.*2393T>A)
n.252T>A
c.*2009T>A (n.*2009T>A)
c.54T>A (p.Ser18Arg)
c.2412T>A (p.Ser804Arg)
c.2349T>A (p.Ser783Arg)
n.1383T>A
c.2418T>A (p.Ser806Arg)
1g.6469111C>ACA561223PLEKHG5c.2180G>T (p.Ser727Ile)
c.2354G>T (p.Ser785Ile)
c.2291G>T (p.Ser764Ile)
n.2656G>T
c.2387G>T (p.Ser796Ile)
c.2477G>T (p.Ser826Ile)
c.*2392G>T (n.*2392G>T)
n.251G>T
c.*2008G>T (n.*2008G>T)
c.53G>T (p.Ser18Ile)
c.2411G>T (p.Ser804Ile)
c.2348G>T (p.Ser783Ile)
n.1382G>T
c.2417G>T (p.Ser806Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6469111C=CA1151520150PLEKHG5c.2180G= (p.Ser727=)
c.2354G= (p.Ser785=)
c.2291G= (p.Ser764=)
n.2656G=
c.2387G= (p.Ser796=)
c.2477G= (p.Ser826=)
c.*2392G= (n.*2392G=)
n.251G=
c.*2008G= (n.*2008G=)
c.53G= (p.Ser18=)
c.2411G= (p.Ser804=)
c.2348G= (p.Ser783=)
n.1382G=
c.2417G= (p.Ser806=)
1g.6469111C>GCA338118136PLEKHG5c.2180G>C (p.Ser727Thr)
c.2354G>C (p.Ser785Thr)
c.2291G>C (p.Ser764Thr)
n.2656G>C
c.2387G>C (p.Ser796Thr)
c.2477G>C (p.Ser826Thr)
c.*2392G>C (n.*2392G>C)
n.251G>C
c.*2008G>C (n.*2008G>C)
c.53G>C (p.Ser18Thr)
c.2411G>C (p.Ser804Thr)
c.2348G>C (p.Ser783Thr)
n.1382G>C
c.2417G>C (p.Ser806Thr)
 gnomAD v4
1g.6469111C>TCA338118140PLEKHG5c.2180G>A (p.Ser727Asn)
c.2354G>A (p.Ser785Asn)
c.2291G>A (p.Ser764Asn)
n.2656G>A
c.2387G>A (p.Ser796Asn)
c.2477G>A (p.Ser826Asn)
c.*2392G>A (n.*2392G>A)
n.251G>A
c.*2008G>A (n.*2008G>A)
c.53G>A (p.Ser18Asn)
c.2411G>A (p.Ser804Asn)
c.2348G>A (p.Ser783Asn)
n.1382G>A
c.2417G>A (p.Ser806Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.6469112T>ACA338118148PLEKHG5c.2179A>T (p.Ser727Cys)
c.2353A>T (p.Ser785Cys)
c.2290A>T (p.Ser764Cys)
n.2655A>T
c.2386A>T (p.Ser796Cys)
c.2476A>T (p.Ser826Cys)
c.*2391A>T (n.*2391A>T)
n.250A>T
c.*2007A>T (n.*2007A>T)
c.52A>T (p.Ser18Cys)
c.2410A>T (p.Ser804Cys)
c.2347A>T (p.Ser783Cys)
n.1381A>T
c.2416A>T (p.Ser806Cys)
1g.6469112T>CCA338118144PLEKHG5c.2179A>G (p.Ser727Gly)
c.2353A>G (p.Ser785Gly)
c.2290A>G (p.Ser764Gly)
n.2655A>G
c.2386A>G (p.Ser796Gly)
c.2476A>G (p.Ser826Gly)
c.*2391A>G (n.*2391A>G)
n.250A>G
c.*2007A>G (n.*2007A>G)
c.52A>G (p.Ser18Gly)
c.2410A>G (p.Ser804Gly)
c.2347A>G (p.Ser783Gly)
n.1381A>G
c.2416A>G (p.Ser806Gly)
1g.6469112T>GCA338118146PLEKHG5c.2179A>C (p.Ser727Arg)
c.2353A>C (p.Ser785Arg)
c.2290A>C (p.Ser764Arg)
n.2655A>C
c.2386A>C (p.Ser796Arg)
c.2476A>C (p.Ser826Arg)
c.*2391A>C (n.*2391A>C)
n.250A>C
c.*2007A>C (n.*2007A>C)
c.52A>C (p.Ser18Arg)
c.2410A>C (p.Ser804Arg)
c.2347A>C (p.Ser783Arg)
n.1381A>C
c.2416A>C (p.Ser806Arg)
1g.6469113G>ACA415831932PLEKHG5c.2178C>T (p.Asp726=)
c.2352C>T (p.Asp784=)
c.2289C>T (p.Asp763=)
n.2654C>T
c.2385C>T (p.Asp795=)
c.2475C>T (p.Asp825=)
c.*2390C>T (n.*2390C>T)
n.249C>T
c.*2006C>T (n.*2006C>T)
c.51C>T (p.Asp17=)
c.2409C>T (p.Asp803=)
c.2346C>T (p.Asp782=)
n.1380C>T
c.2415C>T (p.Asp805=)
 COSMIC COSMIC COSMIC
1g.6469113G>CCA17234775PLEKHG5c.2178C>G (p.Asp726Glu)
c.2352C>G (p.Asp784Glu)
c.2289C>G (p.Asp763Glu)
n.2654C>G
c.2385C>G (p.Asp795Glu)
c.2475C>G (p.Asp825Glu)
c.*2390C>G (n.*2390C>G)
n.249C>G
c.*2006C>G (n.*2006C>G)
c.51C>G (p.Asp17Glu)
c.2409C>G (p.Asp803Glu)
c.2346C>G (p.Asp782Glu)
n.1380C>G
c.2415C>G (p.Asp805Glu)
 dbSNP
1g.6469113G=CA1151520154PLEKHG5c.2178C= (p.Asp726=)
c.2352C= (p.Asp784=)
c.2289C= (p.Asp763=)
n.2654C=
c.2385C= (p.Asp795=)
c.2475C= (p.Asp825=)
c.*2390C= (n.*2390C=)
n.249C=
c.*2006C= (n.*2006C=)
c.51C= (p.Asp17=)
c.2409C= (p.Asp803=)
c.2346C= (p.Asp782=)
n.1380C=
c.2415C= (p.Asp805=)
1g.6469113G>TCA338118156PLEKHG5c.2178C>A (p.Asp726Glu)
c.2352C>A (p.Asp784Glu)
c.2289C>A (p.Asp763Glu)
n.2654C>A
c.2385C>A (p.Asp795Glu)
c.2475C>A (p.Asp825Glu)
c.*2390C>A (n.*2390C>A)
n.249C>A
c.*2006C>A (n.*2006C>A)
c.51C>A (p.Asp17Glu)
c.2409C>A (p.Asp803Glu)
c.2346C>A (p.Asp782Glu)
n.1380C>A
c.2415C>A (p.Asp805Glu)
1g.6469114T>ACA338118160PLEKHG5c.2177A>T (p.Asp726Val)
c.2351A>T (p.Asp784Val)
c.2288A>T (p.Asp763Val)
n.2653A>T
c.2384A>T (p.Asp795Val)
c.2474A>T (p.Asp825Val)
c.*2389A>T (n.*2389A>T)
n.248A>T
c.*2005A>T (n.*2005A>T)
c.50A>T (p.Asp17Val)
c.2408A>T (p.Asp803Val)
c.2345A>T (p.Asp782Val)
n.1379A>T
c.2414A>T (p.Asp805Val)
1g.6469114T>CCA338118162PLEKHG5c.2177A>G (p.Asp726Gly)
c.2351A>G (p.Asp784Gly)
c.2288A>G (p.Asp763Gly)
n.2653A>G
c.2384A>G (p.Asp795Gly)
c.2474A>G (p.Asp825Gly)
c.*2389A>G (n.*2389A>G)
n.248A>G
c.*2005A>G (n.*2005A>G)
c.50A>G (p.Asp17Gly)
c.2408A>G (p.Asp803Gly)
c.2345A>G (p.Asp782Gly)
n.1379A>G
c.2414A>G (p.Asp805Gly)
1g.6469114T>GCA338118164PLEKHG5c.2177A>C (p.Asp726Ala)
c.2351A>C (p.Asp784Ala)
c.2288A>C (p.Asp763Ala)
n.2653A>C
c.2384A>C (p.Asp795Ala)
c.2474A>C (p.Asp825Ala)
c.*2389A>C (n.*2389A>C)
n.248A>C
c.*2005A>C (n.*2005A>C)
c.50A>C (p.Asp17Ala)
c.2408A>C (p.Asp803Ala)
c.2345A>C (p.Asp782Ala)
n.1379A>C
c.2414A>C (p.Asp805Ala)
1g.6469115C>ACA338118167PLEKHG5c.2176G>T (p.Asp726Tyr)
c.2350G>T (p.Asp784Tyr)
c.2287G>T (p.Asp763Tyr)
n.2652G>T
c.2383G>T (p.Asp795Tyr)
c.2473G>T (p.Asp825Tyr)
c.*2388G>T (n.*2388G>T)
n.247G>T
c.*2004G>T (n.*2004G>T)
c.49G>T (p.Asp17Tyr)
c.2407G>T (p.Asp803Tyr)
c.2344G>T (p.Asp782Tyr)
n.1378G>T
c.2413G>T (p.Asp805Tyr)
1g.6469115C=CA1151520162PLEKHG5c.2176G= (p.Asp726=)
c.2350G= (p.Asp784=)
c.2287G= (p.Asp763=)
n.2652G=
c.2383G= (p.Asp795=)
c.2473G= (p.Asp825=)
c.*2388G= (n.*2388G=)
n.247G=
c.*2004G= (n.*2004G=)
c.49G= (p.Asp17=)
c.2407G= (p.Asp803=)
c.2344G= (p.Asp782=)
n.1378G=
c.2413G= (p.Asp805=)
1g.6469115C>GCA338118175PLEKHG5c.2176G>C (p.Asp726His)
c.2350G>C (p.Asp784His)
c.2287G>C (p.Asp763His)
n.2652G>C
c.2383G>C (p.Asp795His)
c.2473G>C (p.Asp825His)
c.*2388G>C (n.*2388G>C)
n.247G>C
c.*2004G>C (n.*2004G>C)
c.49G>C (p.Asp17His)
c.2407G>C (p.Asp803His)
c.2344G>C (p.Asp782His)
n.1378G>C
c.2413G>C (p.Asp805His)
1g.6469115C>TCA17234793PLEKHG5c.2176G>A (p.Asp726Asn)
c.2350G>A (p.Asp784Asn)
c.2287G>A (p.Asp763Asn)
n.2652G>A
c.2383G>A (p.Asp795Asn)
c.2473G>A (p.Asp825Asn)
c.*2388G>A (n.*2388G>A)
n.247G>A
c.*2004G>A (n.*2004G>A)
c.49G>A (p.Asp17Asn)
c.2407G>A (p.Asp803Asn)
c.2344G>A (p.Asp782Asn)
n.1378G>A
c.2413G>A (p.Asp805Asn)
 dbSNP gnomAD v2
1g.6469116C>ACA338118179PLEKHG5c.2175G>T (p.Glu725Asp)
c.2349G>T (p.Glu783Asp)
c.2286G>T (p.Glu762Asp)
n.2651G>T
c.2382G>T (p.Glu794Asp)
c.2472G>T (p.Glu824Asp)
c.*2387G>T (n.*2387G>T)
n.246G>T
c.*2003G>T (n.*2003G>T)
c.48G>T (p.Glu16Asp)
c.2406G>T (p.Glu802Asp)
c.2343G>T (p.Glu781Asp)
n.1377G>T
c.2412G>T (p.Glu804Asp)
1g.6469116C>GCA338118186PLEKHG5c.2175G>C (p.Glu725Asp)
c.2349G>C (p.Glu783Asp)
c.2286G>C (p.Glu762Asp)
n.2651G>C
c.2382G>C (p.Glu794Asp)
c.2472G>C (p.Glu824Asp)
c.*2387G>C (n.*2387G>C)
n.246G>C
c.*2003G>C (n.*2003G>C)
c.48G>C (p.Glu16Asp)
c.2406G>C (p.Glu802Asp)
c.2343G>C (p.Glu781Asp)
n.1377G>C
c.2412G>C (p.Glu804Asp)
 gnomAD v4
1g.6469116C>TCA415831933PLEKHG5c.2175G>A (p.Glu725=)
c.2349G>A (p.Glu783=)
c.2286G>A (p.Glu762=)
n.2651G>A
c.2382G>A (p.Glu794=)
c.2472G>A (p.Glu824=)
c.*2387G>A (n.*2387G>A)
n.246G>A
c.*2003G>A (n.*2003G>A)
c.48G>A (p.Glu16=)
c.2406G>A (p.Glu802=)
c.2343G>A (p.Glu781=)
n.1377G>A
c.2412G>A (p.Glu804=)
1g.6469117T>ACA338118191PLEKHG5c.2174A>T (p.Glu725Val)
c.2348A>T (p.Glu783Val)
c.2285A>T (p.Glu762Val)
n.2650A>T
c.2381A>T (p.Glu794Val)
c.2471A>T (p.Glu824Val)
c.*2386A>T (n.*2386A>T)
n.245A>T
c.*2002A>T (n.*2002A>T)
c.47A>T (p.Glu16Val)
c.2405A>T (p.Glu802Val)
c.2342A>T (p.Glu781Val)
n.1376A>T
c.2411A>T (p.Glu804Val)
1g.6469117T>CCA338118193PLEKHG5c.2174A>G (p.Glu725Gly)
c.2348A>G (p.Glu783Gly)
c.2285A>G (p.Glu762Gly)
n.2650A>G
c.2381A>G (p.Glu794Gly)
c.2471A>G (p.Glu824Gly)
c.*2386A>G (n.*2386A>G)
n.245A>G
c.*2002A>G (n.*2002A>G)
c.47A>G (p.Glu16Gly)
c.2405A>G (p.Glu802Gly)
c.2342A>G (p.Glu781Gly)
n.1376A>G
c.2411A>G (p.Glu804Gly)
1g.6469117T>GCA338118195PLEKHG5c.2174A>C (p.Glu725Ala)
c.2348A>C (p.Glu783Ala)
c.2285A>C (p.Glu762Ala)
n.2650A>C
c.2381A>C (p.Glu794Ala)
c.2471A>C (p.Glu824Ala)
c.*2386A>C (n.*2386A>C)
n.245A>C
c.*2002A>C (n.*2002A>C)
c.47A>C (p.Glu16Ala)
c.2405A>C (p.Glu802Ala)
c.2342A>C (p.Glu781Ala)
n.1376A>C
c.2411A>C (p.Glu804Ala)
1g.6469118C>ACA338118208PLEKHG5c.2173G>T (p.Glu725Ter)
c.2347G>T (p.Glu783Ter)
c.2284G>T (p.Glu762Ter)
n.2649G>T
c.2380G>T (p.Glu794Ter)
c.2470G>T (p.Glu824Ter)
c.*2385G>T (n.*2385G>T)
n.244G>T
c.*2001G>T (n.*2001G>T)
c.46G>T (p.Glu16Ter)
c.2404G>T (p.Glu802Ter)
c.2341G>T (p.Glu781Ter)
n.1375G>T
c.2410G>T (p.Glu804Ter)
 gnomAD v4
1g.6469118C=CA1151520170PLEKHG5c.2173G= (p.Glu725=)
c.2347G= (p.Glu783=)
c.2284G= (p.Glu762=)
n.2649G=
c.2380G= (p.Glu794=)
c.2470G= (p.Glu824=)
c.*2385G= (n.*2385G=)
n.244G=
c.*2001G= (n.*2001G=)
c.46G= (p.Glu16=)
c.2404G= (p.Glu802=)
c.2341G= (p.Glu781=)
n.1375G=
c.2410G= (p.Glu804=)
1g.6469118C>GCA338118209PLEKHG5c.2173G>C (p.Glu725Gln)
c.2347G>C (p.Glu783Gln)
c.2284G>C (p.Glu762Gln)
n.2649G>C
c.2380G>C (p.Glu794Gln)
c.2470G>C (p.Glu824Gln)
c.*2385G>C (n.*2385G>C)
n.244G>C
c.*2001G>C (n.*2001G>C)
c.46G>C (p.Glu16Gln)
c.2404G>C (p.Glu802Gln)
c.2341G>C (p.Glu781Gln)
n.1375G>C
c.2410G>C (p.Glu804Gln)
1g.6469118C>TCA561224PLEKHG5c.2173G>A (p.Glu725Lys)
c.2347G>A (p.Glu783Lys)
c.2284G>A (p.Glu762Lys)
n.2649G>A
c.2380G>A (p.Glu794Lys)
c.2470G>A (p.Glu824Lys)
c.*2385G>A (n.*2385G>A)
n.244G>A
c.*2001G>A (n.*2001G>A)
c.46G>A (p.Glu16Lys)
c.2404G>A (p.Glu802Lys)
c.2341G>A (p.Glu781Lys)
n.1375G>A
c.2410G>A (p.Glu804Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469119G>ACA561225PLEKHG5c.2172C>T (p.Gly724=)
c.2346C>T (p.Gly782=)
c.2283C>T (p.Gly761=)
n.2648C>T
c.2379C>T (p.Gly793=)
c.2469C>T (p.Gly823=)
c.*2384C>T (n.*2384C>T)
n.243C>T
c.*2000C>T (n.*2000C>T)
c.45C>T (p.Gly15=)
c.2403C>T (p.Gly801=)
c.2340C>T (p.Gly780=)
n.1374C>T
c.2409C>T (p.Gly803=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469119G>CCA415831934PLEKHG5c.2172C>G (p.Gly724=)
c.2346C>G (p.Gly782=)
c.2283C>G (p.Gly761=)
n.2648C>G
c.2379C>G (p.Gly793=)
c.2469C>G (p.Gly823=)
c.*2384C>G (n.*2384C>G)
n.243C>G
c.*2000C>G (n.*2000C>G)
c.45C>G (p.Gly15=)
c.2403C>G (p.Gly801=)
c.2340C>G (p.Gly780=)
n.1374C>G
c.2409C>G (p.Gly803=)
1g.6469119G=CA1151520179PLEKHG5c.2172C= (p.Gly724=)
c.2346C= (p.Gly782=)
c.2283C= (p.Gly761=)
n.2648C=
c.2379C= (p.Gly793=)
c.2469C= (p.Gly823=)
c.*2384C= (n.*2384C=)
n.243C=
c.*2000C= (n.*2000C=)
c.45C= (p.Gly15=)
c.2403C= (p.Gly801=)
c.2340C= (p.Gly780=)
n.1374C=
c.2409C= (p.Gly803=)
1g.6469119G>TCA415831935PLEKHG5c.2172C>A (p.Gly724=)
c.2346C>A (p.Gly782=)
c.2283C>A (p.Gly761=)
n.2648C>A
c.2379C>A (p.Gly793=)
c.2469C>A (p.Gly823=)
c.*2384C>A (n.*2384C>A)
n.243C>A
c.*2000C>A (n.*2000C>A)
c.45C>A (p.Gly15=)
c.2403C>A (p.Gly801=)
c.2340C>A (p.Gly780=)
n.1374C>A
c.2409C>A (p.Gly803=)
 gnomAD v4
1g.6469120C>ACA338118214PLEKHG5c.2171G>T (p.Gly724Val)
c.2345G>T (p.Gly782Val)
c.2282G>T (p.Gly761Val)
n.2647G>T
c.2378G>T (p.Gly793Val)
c.2468G>T (p.Gly823Val)
c.*2383G>T (n.*2383G>T)
n.242G>T
c.*1999G>T (n.*1999G>T)
c.44G>T (p.Gly15Val)
c.2402G>T (p.Gly801Val)
c.2339G>T (p.Gly780Val)
n.1373G>T
c.2408G>T (p.Gly803Val)
1g.6469120C=CA1151520184PLEKHG5c.2171G= (p.Gly724=)
c.2345G= (p.Gly782=)
c.2282G= (p.Gly761=)
n.2647G=
c.2378G= (p.Gly793=)
c.2468G= (p.Gly823=)
c.*2383G= (n.*2383G=)
n.242G=
c.*1999G= (n.*1999G=)
c.44G= (p.Gly15=)
c.2402G= (p.Gly801=)
c.2339G= (p.Gly780=)
n.1373G=
c.2408G= (p.Gly803=)
1g.6469120C>GCA338118216PLEKHG5c.2171G>C (p.Gly724Ala)
c.2345G>C (p.Gly782Ala)
c.2282G>C (p.Gly761Ala)
n.2647G>C
c.2378G>C (p.Gly793Ala)
c.2468G>C (p.Gly823Ala)
c.*2383G>C (n.*2383G>C)
n.242G>C
c.*1999G>C (n.*1999G>C)
c.44G>C (p.Gly15Ala)
c.2402G>C (p.Gly801Ala)
c.2339G>C (p.Gly780Ala)
n.1373G>C
c.2408G>C (p.Gly803Ala)
 gnomAD v4
1g.6469120C>TCA338118228PLEKHG5c.2171G>A (p.Gly724Asp)
c.2345G>A (p.Gly782Asp)
c.2282G>A (p.Gly761Asp)
n.2647G>A
c.2378G>A (p.Gly793Asp)
c.2468G>A (p.Gly823Asp)
c.*2383G>A (n.*2383G>A)
n.242G>A
c.*1999G>A (n.*1999G>A)
c.44G>A (p.Gly15Asp)
c.2402G>A (p.Gly801Asp)
c.2339G>A (p.Gly780Asp)
n.1373G>A
c.2408G>A (p.Gly803Asp)
1g.6469120_6469123delinsCCTTCA1151520186PLEKHG5c.2168_2171delinsAAGG (p.Glu723=)
c.2342_2345delinsAAGG (p.Glu781=)
c.2279_2282delinsAAGG (p.Glu760=)
n.2644_2647delinsAAGG
c.2375_2378delinsAAGG (p.Glu792=)
c.2465_2468delinsAAGG (p.Glu822=)
c.*2380_*2383delinsAAGG (n.*2380_*2383delinsAAGG)
n.239_242delinsAAGG
c.*1996_*1999delinsAAGG (n.*1996_*1999delinsAAGG)
c.41_44delinsAAGG (p.Glu14=)
c.2399_2402delinsAAGG (p.Glu800=)
c.2336_2339delinsAAGG (p.Glu779=)
n.1370_1373delinsAAGG
c.2405_2408delinsAAGG (p.Glu802=)
1g.6469123_6469126dupCA2838243554PLEKHG5c.2168_2171dup (p.Glu725ArgfsTer?)
c.2342_2345dup (p.Glu783ArgfsTer?)
c.2279_2282dup (p.Glu762ArgfsTer?)
n.2644_2647dup
c.2375_2378dup (p.Glu794ArgfsTer?)
c.2465_2468dup (p.Glu824ArgfsTer?)
c.*2380_*2383dup (n.*2380_*2383dup)
n.239_242dup
c.*1996_*1999dup (n.*1996_*1999dup)
c.41_44dup (p.Glu16ArgfsTer?)
c.2399_2402dup (p.Glu802ArgfsTer?)
c.2336_2339dup (p.Glu781ArgfsTer?)
n.1370_1373dup
c.2405_2408dup (p.Glu804ArgfsTer?)
1g.6469120_6469147delinsCCTTCCTCCTCCTCCTCCTCCTCCTCCTCA1151520202PLEKHG5c.2144_2171delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu715=)
c.2318_2345delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu773=)
c.2255_2282delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu752=)
n.2620_2647delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG
c.2351_2378delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu784=)
c.2441_2468delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu814=)
c.*2356_*2383delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (n.*2356_*2383delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG)
n.215_242delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG
c.*1972_*1999delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (n.*1972_*1999delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG)
c.17_44delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu6=)
c.2375_2402delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu792=)
c.2312_2339delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu771=)
n.1346_1373delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG
c.2381_2408delinsAGGAGGAGGAGGAGGAGGAGGAGGAAGG (p.Glu794=)
1g.6469121C>ACA338118231PLEKHG5c.2170G>T (p.Gly724Cys)
c.2344G>T (p.Gly782Cys)
c.2281G>T (p.Gly761Cys)
n.2646G>T
c.2377G>T (p.Gly793Cys)
c.2467G>T (p.Gly823Cys)
c.*2382G>T (n.*2382G>T)
n.241G>T
c.*1998G>T (n.*1998G>T)
c.43G>T (p.Gly15Cys)
c.2401G>T (p.Gly801Cys)
c.2338G>T (p.Gly780Cys)
n.1372G>T
c.2407G>T (p.Gly803Cys)
1g.6469121C=CA1151520213PLEKHG5c.2170G= (p.Gly724=)
c.2344G= (p.Gly782=)
c.2281G= (p.Gly761=)
n.2646G=
c.2377G= (p.Gly793=)
c.2467G= (p.Gly823=)
c.*2382G= (n.*2382G=)
n.241G=
c.*1998G= (n.*1998G=)
c.43G= (p.Gly15=)
c.2401G= (p.Gly801=)
c.2338G= (p.Gly780=)
n.1372G=
c.2407G= (p.Gly803=)
1g.6469121C>GCA338118232PLEKHG5c.2170G>C (p.Gly724Arg)
c.2344G>C (p.Gly782Arg)
c.2281G>C (p.Gly761Arg)
n.2646G>C
c.2377G>C (p.Gly793Arg)
c.2467G>C (p.Gly823Arg)
c.*2382G>C (n.*2382G>C)
n.241G>C
c.*1998G>C (n.*1998G>C)
c.43G>C (p.Gly15Arg)
c.2401G>C (p.Gly801Arg)
c.2338G>C (p.Gly780Arg)
n.1372G>C
c.2407G>C (p.Gly803Arg)
 gnomAD v4
1g.6469121C>TCA338118230PLEKHG5c.2170G>A (p.Gly724Ser)
c.2344G>A (p.Gly782Ser)
c.2281G>A (p.Gly761Ser)
n.2646G>A
c.2377G>A (p.Gly793Ser)
c.2467G>A (p.Gly823Ser)
c.*2382G>A (n.*2382G>A)
n.241G>A
c.*1998G>A (n.*1998G>A)
c.43G>A (p.Gly15Ser)
c.2401G>A (p.Gly801Ser)
c.2338G>A (p.Gly780Ser)
n.1372G>A
c.2407G>A (p.Gly803Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469122_6469124delCA1151520207PLEKHG5c.2168_2170del (p.Glu723del)
c.2342_2344del (p.Glu781del)
c.2279_2281del (p.Glu760del)
n.2644_2646del
c.2375_2377del (p.Glu792del)
c.2465_2467del (p.Glu822del)
c.*2380_*2382del (n.*2380_*2382del)
n.239_241del
c.*1996_*1998del (n.*1996_*1998del)
c.41_43del (p.Glu14del)
c.2399_2401del (p.Glu800del)
c.2336_2338del (p.Glu779del)
n.1370_1372del
c.2405_2407del (p.Glu802del)
 dbSNP
1g.6469122_6469127dupCA17234799PLEKHG5c.2165_2170dup (p.Glu723_Gly724insGluGlu)
c.2339_2344dup (p.Glu781_Gly782insGluGlu)
c.2276_2281dup (p.Glu760_Gly761insGluGlu)
n.2641_2646dup
c.2372_2377dup (p.Glu792_Gly793insGluGlu)
c.2462_2467dup (p.Glu822_Gly823insGluGlu)
c.*2377_*2382dup (n.*2377_*2382dup)
n.236_241dup
c.*1993_*1998dup (n.*1993_*1998dup)
c.38_43dup (p.Glu14_Gly15insGluGlu)
c.2396_2401dup (p.Glu800_Gly801insGluGlu)
c.2333_2338dup (p.Glu779_Gly780insGluGlu)
n.1367_1372dup
c.2402_2407dup (p.Glu802_Gly803insGluGlu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6469122_6469127delCA2695253119PLEKHG5c.2165_2170del (p.Glu722_Glu723del)
c.2339_2344del (p.Glu780_Glu781del)
c.2276_2281del (p.Glu759_Glu760del)
n.2641_2646del
c.2372_2377del (p.Glu791_Glu792del)
c.2462_2467del (p.Glu821_Glu822del)
c.*2377_*2382del (n.*2377_*2382del)
n.236_241del
c.*1993_*1998del (n.*1993_*1998del)
c.38_43del (p.Glu13_Glu14del)
c.2396_2401del (p.Glu799_Glu800del)
c.2333_2338del (p.Glu778_Glu779del)
n.1367_1372del
c.2402_2407del (p.Glu801_Glu802del)
 dbSNP
1g.6469133_6469159dupCA2642975077PLEKHG5c.2144_2170dup (p.Glu723_Gly724insGluGluGluGluGluGluGluGluGlu)
c.2318_2344dup (p.Glu781_Gly782insGluGluGluGluGluGluGluGluGlu)
c.2255_2281dup (p.Glu760_Gly761insGluGluGluGluGluGluGluGluGlu)
n.2620_2646dup
c.2351_2377dup (p.Glu792_Gly793insGluGluGluGluGluGluGluGluGlu)
c.2441_2467dup (p.Glu822_Gly823insGluGluGluGluGluGluGluGluGlu)
c.*2356_*2382dup (n.*2356_*2382dup)
n.215_241dup
c.*1972_*1998dup (n.*1972_*1998dup)
c.17_43dup (p.Glu14_Gly15insGluGluGluGluGluGluGluGluGlu)
c.2375_2401dup (p.Glu800_Gly801insGluGluGluGluGluGluGluGluGlu)
c.2312_2338dup (p.Glu779_Gly780insGluGluGluGluGluGluGluGluGlu)
n.1346_1372dup
c.2381_2407dup (p.Glu802_Gly803insGluGluGluGluGluGluGluGluGlu)
 gnomAD v4
1g.6469133_6469159delCA1151520209PLEKHG5c.2144_2170del (p.Glu715_Glu723del)
c.2318_2344del (p.Glu773_Glu781del)
c.2255_2281del (p.Glu752_Glu760del)
n.2620_2646del
c.2351_2377del (p.Glu784_Glu792del)
c.2441_2467del (p.Glu814_Glu822del)
c.*2356_*2382del (n.*2356_*2382del)
n.215_241del
c.*1972_*1998del (n.*1972_*1998del)
c.17_43del (p.Glu6_Glu14del)
c.2375_2401del (p.Glu792_Glu800del)
c.2312_2338del (p.Glu771_Glu779del)
n.1346_1372del
c.2381_2407del (p.Glu794_Glu802del)
 dbSNP gnomAD v4
1g.6469122T>ACA338118236PLEKHG5c.2169A>T (p.Glu723Asp)
c.2343A>T (p.Glu781Asp)
c.2280A>T (p.Glu760Asp)
n.2645A>T
c.2376A>T (p.Glu792Asp)
c.2466A>T (p.Glu822Asp)
c.*2381A>T (n.*2381A>T)
n.240A>T
c.*1997A>T (n.*1997A>T)
c.42A>T (p.Glu14Asp)
c.2400A>T (p.Glu800Asp)
c.2337A>T (p.Glu779Asp)
n.1371A>T
c.2406A>T (p.Glu802Asp)
1g.6469122T>CCA416022209PLEKHG5c.2169A>G (p.Glu723=)
c.2343A>G (p.Glu781=)
c.2280A>G (p.Glu760=)
n.2645A>G
c.2376A>G (p.Glu792=)
c.2466A>G (p.Glu822=)
c.*2381A>G (n.*2381A>G)
n.240A>G
c.*1997A>G (n.*1997A>G)
c.42A>G (p.Glu14=)
c.2400A>G (p.Glu800=)
c.2337A>G (p.Glu779=)
n.1371A>G
c.2406A>G (p.Glu802=)
1g.6469122T>GCA338118238PLEKHG5c.2169A>C (p.Glu723Asp)
c.2343A>C (p.Glu781Asp)
c.2280A>C (p.Glu760Asp)
n.2645A>C
c.2376A>C (p.Glu792Asp)
c.2466A>C (p.Glu822Asp)
c.*2381A>C (n.*2381A>C)
n.240A>C
c.*1997A>C (n.*1997A>C)
c.42A>C (p.Glu14Asp)
c.2400A>C (p.Glu800Asp)
c.2337A>C (p.Glu779Asp)
n.1371A>C
c.2406A>C (p.Glu802Asp)
1g.6469123delCA2838196809PLEKHG5c.2169del (p.Gly724AlafsTer?)
c.2343del (p.Gly782AlafsTer?)
c.2280del (p.Gly761AlafsTer?)
n.2645del
c.2376del (p.Gly793AlafsTer?)
c.2466del (p.Gly823AlafsTer?)
c.*2381del (n.*2381del)
c.2169del (p.Gly724AlafsTer29)
n.240del
c.*1997del (n.*1997del)
c.42del (p.Gly15AlafsTer?)
c.2400del (p.Gly801AlafsTer29)
c.2400del (p.Gly801AlafsTer?)
c.2337del (p.Gly780AlafsTer?)
n.1371del
c.2406del (p.Gly803AlafsTer?)
1g.6469122_6469140delinsTTCCTCCTCCTCCTCCTCCCA1151520219PLEKHG5c.2151_2169delinsGGAGGAGGAGGAGGAGGAA (p.Glu717=)
c.2325_2343delinsGGAGGAGGAGGAGGAGGAA (p.Glu775=)
c.2262_2280delinsGGAGGAGGAGGAGGAGGAA (p.Glu754=)
n.2627_2645delinsGGAGGAGGAGGAGGAGGAA
c.2358_2376delinsGGAGGAGGAGGAGGAGGAA (p.Glu786=)
c.2448_2466delinsGGAGGAGGAGGAGGAGGAA (p.Glu816=)
c.*2363_*2381delinsGGAGGAGGAGGAGGAGGAA (n.*2363_*2381delinsGGAGGAGGAGGAGGAGGAA)
n.222_240delinsGGAGGAGGAGGAGGAGGAA
c.*1979_*1997delinsGGAGGAGGAGGAGGAGGAA (n.*1979_*1997delinsGGAGGAGGAGGAGGAGGAA)
c.24_42delinsGGAGGAGGAGGAGGAGGAA (p.Glu8=)
c.2382_2400delinsGGAGGAGGAGGAGGAGGAA (p.Glu794=)
c.2319_2337delinsGGAGGAGGAGGAGGAGGAA (p.Glu773=)
n.1353_1371delinsGGAGGAGGAGGAGGAGGAA
c.2388_2406delinsGGAGGAGGAGGAGGAGGAA (p.Glu796=)
1g.6469123T>ACA338118274PLEKHG5c.2168A>T (p.Glu723Val)
c.2342A>T (p.Glu781Val)
c.2279A>T (p.Glu760Val)
n.2644A>T
c.2375A>T (p.Glu792Val)
c.2465A>T (p.Glu822Val)
c.*2380A>T (n.*2380A>T)
n.239A>T
c.*1996A>T (n.*1996A>T)
c.41A>T (p.Glu14Val)
c.2399A>T (p.Glu800Val)
c.2336A>T (p.Glu779Val)
n.1370A>T
c.2405A>T (p.Glu802Val)
1g.6469123T>CCA338118267PLEKHG5c.2168A>G (p.Glu723Gly)
c.2342A>G (p.Glu781Gly)
c.2279A>G (p.Glu760Gly)
n.2644A>G
c.2375A>G (p.Glu792Gly)
c.2465A>G (p.Glu822Gly)
c.*2380A>G (n.*2380A>G)
n.239A>G
c.*1996A>G (n.*1996A>G)
c.41A>G (p.Glu14Gly)
c.2399A>G (p.Glu800Gly)
c.2336A>G (p.Glu779Gly)
n.1370A>G
c.2405A>G (p.Glu802Gly)
 gnomAD v4
1g.6469123T>GCA338118269PLEKHG5c.2168A>C (p.Glu723Ala)
c.2342A>C (p.Glu781Ala)
c.2279A>C (p.Glu760Ala)
n.2644A>C
c.2375A>C (p.Glu792Ala)
c.2465A>C (p.Glu822Ala)
c.*2380A>C (n.*2380A>C)
n.239A>C
c.*1996A>C (n.*1996A>C)
c.41A>C (p.Glu14Ala)
c.2399A>C (p.Glu800Ala)
c.2336A>C (p.Glu779Ala)
n.1370A>C
c.2405A>C (p.Glu802Ala)
1g.6469123_6469148delinsTCCTCCTCCTCCTCCTCCTCCTCCTCCA1141342942PLEKHG5c.2143_2168delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu715=)
c.2317_2342delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu773=)
c.2254_2279delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu752=)
n.2619_2644delinsGAGGAGGAGGAGGAGGAGGAGGAGGA
c.2350_2375delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu784=)
c.2440_2465delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu814=)
c.*2355_*2380delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (n.*2355_*2380delinsGAGGAGGAGGAGGAGGAGGAGGAGGA)
n.214_239delinsGAGGAGGAGGAGGAGGAGGAGGAGGA
c.*1971_*1996delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (n.*1971_*1996delinsGAGGAGGAGGAGGAGGAGGAGGAGGA)
c.16_41delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu6=)
c.2374_2399delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu792=)
c.2311_2336delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu771=)
n.1345_1370delinsGAGGAGGAGGAGGAGGAGGAGGAGGA
c.2380_2405delinsGAGGAGGAGGAGGAGGAGGAGGAGGA (p.Glu794=)
1g.6469146_6469148dupCA561227PLEKHG5c.2166_2168dup (p.Glu723_Gly724insGlu)
c.2340_2342dup (p.Glu781_Gly782insGlu)
c.2277_2279dup (p.Glu760_Gly761insGlu)
n.2642_2644dup
c.2373_2375dup (p.Glu792_Gly793insGlu)
c.2463_2465dup (p.Glu822_Gly823insGlu)
c.*2378_*2380dup (n.*2378_*2380dup)
n.237_239dup
c.*1994_*1996dup (n.*1994_*1996dup)
c.39_41dup (p.Glu14_Gly15insGlu)
c.2397_2399dup (p.Glu800_Gly801insGlu)
c.2334_2336dup (p.Glu779_Gly780insGlu)
n.1368_1370dup
c.2403_2405dup (p.Glu802_Gly803insGlu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469143_6469148dupCA561228PLEKHG5c.2163_2168dup (p.Glu723_Gly724insGluGlu)
c.2337_2342dup (p.Glu781_Gly782insGluGlu)
c.2274_2279dup (p.Glu760_Gly761insGluGlu)
n.2639_2644dup
c.2370_2375dup (p.Glu792_Gly793insGluGlu)
c.2460_2465dup (p.Glu822_Gly823insGluGlu)
c.*2375_*2380dup (n.*2375_*2380dup)
n.234_239dup
c.*1991_*1996dup (n.*1991_*1996dup)
c.36_41dup (p.Glu14_Gly15insGluGlu)
c.2394_2399dup (p.Glu800_Gly801insGluGlu)
c.2331_2336dup (p.Glu779_Gly780insGluGlu)
n.1365_1370dup
c.2400_2405dup (p.Glu802_Gly803insGluGlu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469140_6469148dupCA737847491PLEKHG5c.2160_2168dup (p.Glu723_Gly724insGluGluGlu)
c.2334_2342dup (p.Glu781_Gly782insGluGluGlu)
c.2271_2279dup (p.Glu760_Gly761insGluGluGlu)
n.2636_2644dup
c.2367_2375dup (p.Glu792_Gly793insGluGluGlu)
c.2457_2465dup (p.Glu822_Gly823insGluGluGlu)
c.*2372_*2380dup (n.*2372_*2380dup)
n.231_239dup
c.*1988_*1996dup (n.*1988_*1996dup)
c.33_41dup (p.Glu14_Gly15insGluGluGlu)
c.2391_2399dup (p.Glu800_Gly801insGluGluGlu)
c.2328_2336dup (p.Glu779_Gly780insGluGluGlu)
n.1362_1370dup
c.2397_2405dup (p.Glu802_Gly803insGluGluGlu)
 dbSNP gnomAD v4
1g.6469137_6469148dupCA561229PLEKHG5c.2157_2168dup (p.Glu723_Gly724insGluGluGluGlu)
c.2331_2342dup (p.Glu781_Gly782insGluGluGluGlu)
c.2268_2279dup (p.Glu760_Gly761insGluGluGluGlu)
n.2633_2644dup
c.2364_2375dup (p.Glu792_Gly793insGluGluGluGlu)
c.2454_2465dup (p.Glu822_Gly823insGluGluGluGlu)
c.*2369_*2380dup (n.*2369_*2380dup)
n.228_239dup
c.*1985_*1996dup (n.*1985_*1996dup)
c.30_41dup (p.Glu14_Gly15insGluGluGluGlu)
c.2388_2399dup (p.Glu800_Gly801insGluGluGluGlu)
c.2325_2336dup (p.Glu779_Gly780insGluGluGluGlu)
n.1359_1370dup
c.2394_2405dup (p.Glu802_Gly803insGluGluGluGlu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469134_6469148dupCA2642975080PLEKHG5c.2154_2168dup (p.Glu723_Gly724insGluGluGluGluGlu)
c.2328_2342dup (p.Glu781_Gly782insGluGluGluGluGlu)
c.2265_2279dup (p.Glu760_Gly761insGluGluGluGluGlu)
n.2630_2644dup
c.2361_2375dup (p.Glu792_Gly793insGluGluGluGluGlu)
c.2451_2465dup (p.Glu822_Gly823insGluGluGluGluGlu)
c.*2366_*2380dup (n.*2366_*2380dup)
n.225_239dup
c.*1982_*1996dup (n.*1982_*1996dup)
c.27_41dup (p.Glu14_Gly15insGluGluGluGluGlu)
c.2385_2399dup (p.Glu800_Gly801insGluGluGluGluGlu)
c.2322_2336dup (p.Glu779_Gly780insGluGluGluGluGlu)
n.1356_1370dup
c.2391_2405dup (p.Glu802_Gly803insGluGluGluGluGlu)
 gnomAD v4
1g.6469146_6469148delCA201473PLEKHG5c.2166_2168del (p.Glu723del)
c.2340_2342del (p.Glu781del)
c.2277_2279del (p.Glu760del)
n.2642_2644del
c.2373_2375del (p.Glu792del)
c.2463_2465del (p.Glu822del)
c.*2378_*2380del (n.*2378_*2380del)
n.237_239del
c.*1994_*1996del (n.*1994_*1996del)
c.39_41del (p.Glu14del)
c.2397_2399del (p.Glu800del)
c.2334_2336del (p.Glu779del)
n.1368_1370del
c.2403_2405del (p.Glu802del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
1g.6469143_6469148delCA201467PLEKHG5c.2163_2168del (p.Glu722_Glu723del)
c.2337_2342del (p.Glu780_Glu781del)
c.2274_2279del (p.Glu759_Glu760del)
n.2639_2644del
c.2370_2375del (p.Glu791_Glu792del)
c.2460_2465del (p.Glu821_Glu822del)
c.*2375_*2380del (n.*2375_*2380del)
n.234_239del
c.*1991_*1996del (n.*1991_*1996del)
c.36_41del (p.Glu13_Glu14del)
c.2394_2399del (p.Glu799_Glu800del)
c.2331_2336del (p.Glu778_Glu779del)
n.1365_1370del
c.2400_2405del (p.Glu801_Glu802del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.6469140_6469148delCA561226PLEKHG5c.2160_2168del (p.Glu721_Glu723del)
c.2334_2342del (p.Glu779_Glu781del)
c.2271_2279del (p.Glu758_Glu760del)
n.2636_2644del
c.2367_2375del (p.Glu790_Glu792del)
c.2457_2465del (p.Glu820_Glu822del)
c.*2372_*2380del (n.*2372_*2380del)
n.231_239del
c.*1988_*1996del (n.*1988_*1996del)
c.33_41del (p.Glu12_Glu14del)
c.2391_2399del (p.Glu798_Glu800del)
c.2328_2336del (p.Glu777_Glu779del)
n.1362_1370del
c.2397_2405del (p.Glu800_Glu802del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469137_6469148delCA521018686PLEKHG5c.2157_2168del (p.Glu720_Glu723del)
c.2331_2342del (p.Glu778_Glu781del)
c.2268_2279del (p.Glu757_Glu760del)
n.2633_2644del
c.2364_2375del (p.Glu789_Glu792del)
c.2454_2465del (p.Glu819_Glu822del)
c.*2369_*2380del (n.*2369_*2380del)
n.228_239del
c.*1985_*1996del (n.*1985_*1996del)
c.30_41del (p.Glu11_Glu14del)
c.2388_2399del (p.Glu797_Glu800del)
c.2325_2336del (p.Glu776_Glu779del)
n.1359_1370del
c.2394_2405del (p.Glu799_Glu802del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469131_6469148delCA658795381PLEKHG5c.2151_2168del (p.Glu718_Glu723del)
c.2325_2342del (p.Glu776_Glu781del)
c.2262_2279del (p.Glu755_Glu760del)
n.2627_2644del
c.2358_2375del (p.Glu787_Glu792del)
c.2448_2465del (p.Glu817_Glu822del)
c.*2363_*2380del (n.*2363_*2380del)
n.222_239del
c.*1979_*1996del (n.*1979_*1996del)
c.24_41del (p.Glu9_Glu14del)
c.2382_2399del (p.Glu795_Glu800del)
c.2319_2336del (p.Glu774_Glu779del)
n.1353_1370del
c.2388_2405del (p.Glu797_Glu802del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6469128_6469148delCA2642975079PLEKHG5c.2148_2168del (p.Glu717_Glu723del)
c.2322_2342del (p.Glu775_Glu781del)
c.2259_2279del (p.Glu754_Glu760del)
n.2624_2644del
c.2355_2375del (p.Glu786_Glu792del)
c.2445_2465del (p.Glu816_Glu822del)
c.*2360_*2380del (n.*2360_*2380del)
n.219_239del
c.*1976_*1996del (n.*1976_*1996del)
c.21_41del (p.Glu8_Glu14del)
c.2379_2399del (p.Glu794_Glu800del)
c.2316_2336del (p.Glu773_Glu779del)
n.1350_1370del
c.2385_2405del (p.Glu796_Glu802del)
 gnomAD v4
1g.6469124C>ACA338118281PLEKHG5c.2167G>T (p.Glu723Ter)
c.2341G>T (p.Glu781Ter)
c.2278G>T (p.Glu760Ter)
n.2643G>T
c.2374G>T (p.Glu792Ter)
c.2464G>T (p.Glu822Ter)
c.*2379G>T (n.*2379G>T)
n.238G>T
c.*1995G>T (n.*1995G>T)
c.40G>T (p.Glu14Ter)
c.2398G>T (p.Glu800Ter)
c.2335G>T (p.Glu779Ter)
n.1369G>T
c.2404G>T (p.Glu802Ter)
1g.6469124C=CA1151520269PLEKHG5c.2167G= (p.Glu723=)
c.2341G= (p.Glu781=)
c.2278G= (p.Glu760=)
n.2643G=
c.2374G= (p.Glu792=)
c.2464G= (p.Glu822=)
c.*2379G= (n.*2379G=)
n.238G=
c.*1995G= (n.*1995G=)
c.40G= (p.Glu14=)
c.2398G= (p.Glu800=)
c.2335G= (p.Glu779=)
n.1369G=
c.2404G= (p.Glu802=)
1g.6469124C>GCA338118298PLEKHG5c.2167G>C (p.Glu723Gln)
c.2341G>C (p.Glu781Gln)
c.2278G>C (p.Glu760Gln)
n.2643G>C
c.2374G>C (p.Glu792Gln)
c.2464G>C (p.Glu822Gln)
c.*2379G>C (n.*2379G>C)
n.238G>C
c.*1995G>C (n.*1995G>C)
c.40G>C (p.Glu14Gln)
c.2398G>C (p.Glu800Gln)
c.2335G>C (p.Glu779Gln)
n.1369G>C
c.2404G>C (p.Glu802Gln)
1g.6469124C>TCA338118300PLEKHG5c.2167G>A (p.Glu723Lys)
c.2341G>A (p.Glu781Lys)
c.2278G>A (p.Glu760Lys)
n.2643G>A
c.2374G>A (p.Glu792Lys)
c.2464G>A (p.Glu822Lys)
c.*2379G>A (n.*2379G>A)
n.238G>A
c.*1995G>A (n.*1995G>A)
c.40G>A (p.Glu14Lys)
c.2398G>A (p.Glu800Lys)
c.2335G>A (p.Glu779Lys)
n.1369G>A
c.2404G>A (p.Glu802Lys)
 dbSNP gnomAD v2 COSMIC
1g.6469125C>ACA338118305PLEKHG5c.2166G>T (p.Glu722Asp)
c.2340G>T (p.Glu780Asp)
c.2277G>T (p.Glu759Asp)
n.2642G>T
c.2373G>T (p.Glu791Asp)
c.2463G>T (p.Glu821Asp)
c.*2378G>T (n.*2378G>T)
n.237G>T
c.*1994G>T (n.*1994G>T)
c.39G>T (p.Glu13Asp)
c.2397G>T (p.Glu799Asp)
c.2334G>T (p.Glu778Asp)
n.1368G>T
c.2403G>T (p.Glu801Asp)
1g.6469125C=CA1151520283PLEKHG5c.2166G= (p.Glu722=)
c.2340G= (p.Glu780=)
c.2277G= (p.Glu759=)
n.2642G=
c.2373G= (p.Glu791=)
c.2463G= (p.Glu821=)
c.*2378G= (n.*2378G=)
n.237G=
c.*1994G= (n.*1994G=)
c.39G= (p.Glu13=)
c.2397G= (p.Glu799=)
c.2334G= (p.Glu778=)
n.1368G=
c.2403G= (p.Glu801=)
1g.6469125C>GCA338118307PLEKHG5c.2166G>C (p.Glu722Asp)
c.2340G>C (p.Glu780Asp)
c.2277G>C (p.Glu759Asp)
n.2642G>C
c.2373G>C (p.Glu791Asp)
c.2463G>C (p.Glu821Asp)
c.*2378G>C (n.*2378G>C)
n.237G>C
c.*1994G>C (n.*1994G>C)
c.39G>C (p.Glu13Asp)
c.2397G>C (p.Glu799Asp)
c.2334G>C (p.Glu778Asp)
n.1368G>C
c.2403G>C (p.Glu801Asp)
1g.6469125C>TCA416022253PLEKHG5c.2166G>A (p.Glu722=)
c.2340G>A (p.Glu780=)
c.2277G>A (p.Glu759=)
n.2642G>A
c.2373G>A (p.Glu791=)
c.2463G>A (p.Glu821=)
c.*2378G>A (n.*2378G>A)
n.237G>A
c.*1994G>A (n.*1994G>A)
c.39G>A (p.Glu13=)
c.2397G>A (p.Glu799=)
c.2334G>A (p.Glu778=)
n.1368G>A
c.2403G>A (p.Glu801=)
 dbSNP gnomAD v4
1g.6469127_6469128insTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCCA2580611385PLEKHG5c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
c.2340_2341insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu780_Glu781insGlnGluGluGluGluGluGluGluGluGluGluGlu)
c.2277_2278insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu759_Glu760insGlnGluGluGluGluGluGluGluGluGluGluGlu)
n.2642_2643insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG
c.2373_2374insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu791_Glu792insGlnGluGluGluGluGluGluGluGluGluGluGlu)
c.2463_2464insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu821_Glu822insGlnGluGluGluGluGluGluGluGluGluGluGlu)
c.*2378_*2379insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (n.*2378_*2379insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG)
n.237_238insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG
c.*1994_*1995insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (n.*1994_*1995insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG)
c.39_40insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu13_Glu14insGlnGluGluGluGluGluGluGluGluGluGluGlu)
c.2397_2398insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu799_Glu800insGlnGluGluGluGluGluGluGluGluGluGluGlu)
c.2334_2335insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu778_Glu779insGlnGluGluGluGluGluGluGluGluGluGluGlu)
n.1368_1369insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG
c.2403_2404insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu801_Glu802insGlnGluGluGluGluGluGluGluGluGluGluGlu)
1g.6469126T>ACA338118314PLEKHG5c.2165A>T (p.Glu722Val)
c.2339A>T (p.Glu780Val)
c.2276A>T (p.Glu759Val)
n.2641A>T
c.2372A>T (p.Glu791Val)
c.2462A>T (p.Glu821Val)
c.*2377A>T (n.*2377A>T)
n.236A>T
c.*1993A>T (n.*1993A>T)
c.38A>T (p.Glu13Val)
c.2396A>T (p.Glu799Val)
c.2333A>T (p.Glu778Val)
n.1367A>T
c.2402A>T (p.Glu801Val)
1g.6469126T>CCA338118321PLEKHG5c.2165A>G (p.Glu722Gly)
c.2339A>G (p.Glu780Gly)
c.2276A>G (p.Glu759Gly)
n.2641A>G
c.2372A>G (p.Glu791Gly)
c.2462A>G (p.Glu821Gly)
c.*2377A>G (n.*2377A>G)
n.236A>G
c.*1993A>G (n.*1993A>G)
c.38A>G (p.Glu13Gly)
c.2396A>G (p.Glu799Gly)
c.2333A>G (p.Glu778Gly)
n.1367A>G
c.2402A>G (p.Glu801Gly)
1g.6469126T>GCA338118325PLEKHG5c.2165A>C (p.Glu722Ala)
c.2339A>C (p.Glu780Ala)
c.2276A>C (p.Glu759Ala)
n.2641A>C
c.2372A>C (p.Glu791Ala)
c.2462A>C (p.Glu821Ala)
c.*2377A>C (n.*2377A>C)
n.236A>C
c.*1993A>C (n.*1993A>C)
c.38A>C (p.Glu13Ala)
c.2396A>C (p.Glu799Ala)
c.2333A>C (p.Glu778Ala)
n.1367A>C
c.2402A>C (p.Glu801Ala)
1g.6469126_6469127delinsTCCA1151520296PLEKHG5c.2164_2165delinsGA (p.Glu722=)
c.2338_2339delinsGA (p.Glu780=)
c.2275_2276delinsGA (p.Glu759=)
n.2640_2641delinsGA
c.2371_2372delinsGA (p.Glu791=)
c.2461_2462delinsGA (p.Glu821=)
c.*2376_*2377delinsGA (n.*2376_*2377delinsGA)
n.235_236delinsGA
c.*1992_*1993delinsGA (n.*1992_*1993delinsGA)
c.37_38delinsGA (p.Glu13=)
c.2395_2396delinsGA (p.Glu799=)
c.2332_2333delinsGA (p.Glu778=)
n.1366_1367delinsGA
c.2401_2402delinsGA (p.Glu801=)
1g.6469127_6469128insTTCCA521018690PLEKHG5c.2165_2166insAGA (p.Glu722_Glu723insGlu)
c.2339_2340insAGA (p.Glu780_Glu781insGlu)
c.2276_2277insAGA (p.Glu759_Glu760insGlu)
n.2641_2642insAGA
c.2372_2373insAGA (p.Glu791_Glu792insGlu)
c.2462_2463insAGA (p.Glu821_Glu822insGlu)
c.*2377_*2378insAGA (n.*2377_*2378insAGA)
n.236_237insAGA
c.*1993_*1994insAGA (n.*1993_*1994insAGA)
c.38_39insAGA (p.Glu13_Glu14insGlu)
c.2396_2397insAGA (p.Glu799_Glu800insGlu)
c.2333_2334insAGA (p.Glu778_Glu779insGlu)
n.1367_1368insAGA
c.2402_2403insAGA (p.Glu801_Glu802insGlu)
 dbSNP gnomAD v2 gnomAD v4
1g.6469126_6469128delinsTCCCA1151520297PLEKHG5c.2163_2165delinsGGA (p.Glu721=)
c.2337_2339delinsGGA (p.Glu779=)
c.2274_2276delinsGGA (p.Glu758=)
n.2639_2641delinsGGA
c.2370_2372delinsGGA (p.Glu790=)
c.2460_2462delinsGGA (p.Glu820=)
c.*2375_*2377delinsGGA (n.*2375_*2377delinsGGA)
n.234_236delinsGGA
c.*1991_*1993delinsGGA (n.*1991_*1993delinsGGA)
c.36_38delinsGGA (p.Glu12=)
c.2394_2396delinsGGA (p.Glu798=)
c.2331_2333delinsGGA (p.Glu777=)
n.1365_1367delinsGGA
c.2400_2402delinsGGA (p.Glu800=)
1g.6469136_6469159dupCA2742316333PLEKHG5c.2142_2165dup (p.Glu722_Glu723insGluGluGluGluGluGluGluGlu)
c.2316_2339dup (p.Glu780_Glu781insGluGluGluGluGluGluGluGlu)
c.2253_2276dup (p.Glu759_Glu760insGluGluGluGluGluGluGluGlu)
n.2618_2641dup
c.2349_2372dup (p.Glu791_Glu792insGluGluGluGluGluGluGluGlu)
c.2439_2462dup (p.Glu821_Glu822insGluGluGluGluGluGluGluGlu)
c.*2354_*2377dup (n.*2354_*2377dup)
n.213_236dup
c.*1970_*1993dup (n.*1970_*1993dup)
c.15_38dup (p.Glu13_Glu14insGluGluGluGluGluGluGluGlu)
c.2373_2396dup (p.Glu799_Glu800insGluGluGluGluGluGluGluGlu)
c.2310_2333dup (p.Glu778_Glu779insGluGluGluGluGluGluGluGlu)
n.1344_1367dup
c.2379_2402dup (p.Glu801_Glu802insGluGluGluGluGluGluGluGlu)
1g.6469137_6469175dupCA2642975088PLEKHG5c.2127_2165dup (p.Glu721_Glu722insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
c.2301_2339dup (p.Glu779_Glu780insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
c.2238_2276dup (p.Glu758_Glu759insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
n.2603_2641dup
c.2334_2372dup (p.Glu790_Glu791insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
c.2424_2462dup (p.Glu820_Glu821insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
c.*2339_*2377dup (n.*2339_*2377dup)
n.198_236dup
c.*1955_*1993dup (n.*1955_*1993dup)
c.2358_2396dup (p.Glu798_Glu799insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
c.2295_2333dup (p.Glu777_Glu778insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
n.1329_1367dup
c.2364_2402dup (p.Glu800_Glu801insAspGluGlnGluGluGluGluGluGluGluGluGluGlu)
 gnomAD v4
1g.6469127C>ACA338118338PLEKHG5c.2164G>T (p.Glu722Ter)
c.2338G>T (p.Glu780Ter)
c.2275G>T (p.Glu759Ter)
n.2640G>T
c.2371G>T (p.Glu791Ter)
c.2461G>T (p.Glu821Ter)
c.*2376G>T (n.*2376G>T)
n.235G>T
c.*1992G>T (n.*1992G>T)
c.37G>T (p.Glu13Ter)
c.2395G>T (p.Glu799Ter)
c.2332G>T (p.Glu778Ter)
n.1366G>T
c.2401G>T (p.Glu801Ter)
1g.6469127C=CA1143489352PLEKHG5c.2164G= (p.Glu722=)
c.2338G= (p.Glu780=)
c.2275G= (p.Glu759=)
n.2640G=
c.2371G= (p.Glu791=)
c.2461G= (p.Glu821=)
c.*2376G= (n.*2376G=)
n.235G=
c.*1992G= (n.*1992G=)
c.37G= (p.Glu13=)
c.2395G= (p.Glu799=)
c.2332G= (p.Glu778=)
n.1366G=
c.2401G= (p.Glu801=)
1g.6469127C>GCA338118337PLEKHG5c.2164G>C (p.Glu722Gln)
c.2338G>C (p.Glu780Gln)
c.2275G>C (p.Glu759Gln)
n.2640G>C
c.2371G>C (p.Glu791Gln)
c.2461G>C (p.Glu821Gln)
c.*2376G>C (n.*2376G>C)
n.235G>C
c.*1992G>C (n.*1992G>C)
c.37G>C (p.Glu13Gln)
c.2395G>C (p.Glu799Gln)
c.2332G>C (p.Glu778Gln)
n.1366G>C
c.2401G>C (p.Glu801Gln)
1g.6469127C>TCA561232PLEKHG5c.2164G>A (p.Glu722Lys)
c.2338G>A (p.Glu780Lys)
c.2275G>A (p.Glu759Lys)
n.2640G>A
c.2371G>A (p.Glu791Lys)
c.2461G>A (p.Glu821Lys)
c.*2376G>A (n.*2376G>A)
n.235G>A
c.*1992G>A (n.*1992G>A)
c.37G>A (p.Glu13Lys)
c.2395G>A (p.Glu799Lys)
c.2332G>A (p.Glu778Lys)
n.1366G>A
c.2401G>A (p.Glu801Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469127_6469128delCA561231PLEKHG5c.2163_2164del (p.Glu722GlyfsTer?)
c.2337_2338del (p.Glu780GlyfsTer?)
c.2274_2275del (p.Glu759GlyfsTer?)
n.2639_2640del
c.2370_2371del (p.Glu791GlyfsTer?)
c.2460_2461del (p.Glu821GlyfsTer?)
c.*2375_*2376del (n.*2375_*2376del)
n.234_235del
c.*1991_*1992del (n.*1991_*1992del)
c.36_37del (p.Glu13GlyfsTer?)
c.2394_2395del (p.Glu799GlyfsTer?)
c.2331_2332del (p.Glu778GlyfsTer?)
n.1365_1366del
c.2400_2401del (p.Glu801GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469127_6469128delinsCCCA1143465724PLEKHG5c.2163_2164delinsGG (p.Glu721=)
c.2337_2338delinsGG (p.Glu779=)
c.2274_2275delinsGG (p.Glu758=)
n.2639_2640delinsGG
c.2370_2371delinsGG (p.Glu790=)
c.2460_2461delinsGG (p.Glu820=)
c.*2375_*2376delinsGG (n.*2375_*2376delinsGG)
n.234_235delinsGG
c.*1991_*1992delinsGG (n.*1991_*1992delinsGG)
c.36_37delinsGG (p.Glu12=)
c.2394_2395delinsGG (p.Glu798=)
c.2331_2332delinsGG (p.Glu777=)
n.1365_1366delinsGG
c.2400_2401delinsGG (p.Glu800=)
1g.6469127_6469128dupCA17234868PLEKHG5c.2163_2164dup (p.Glu722GlyfsTer?)
c.2337_2338dup (p.Glu780GlyfsTer?)
c.2274_2275dup (p.Glu759GlyfsTer?)
n.2639_2640dup
c.2370_2371dup (p.Glu791GlyfsTer?)
c.2460_2461dup (p.Glu821GlyfsTer?)
c.*2375_*2376dup (n.*2375_*2376dup)
n.234_235dup
c.*1991_*1992dup (n.*1991_*1992dup)
c.36_37dup (p.Glu13GlyfsTer?)
c.2394_2395dup (p.Glu799GlyfsTer?)
c.2331_2332dup (p.Glu778GlyfsTer?)
n.1365_1366dup
c.2400_2401dup (p.Glu801GlyfsTer?)
1g.6469128delCA561230PLEKHG5c.2164del (p.Glu722ArgfsTer?)
c.2338del (p.Glu780ArgfsTer?)
c.2275del (p.Glu759ArgfsTer?)
n.2640del
c.2371del (p.Glu791ArgfsTer?)
c.2461del (p.Glu821ArgfsTer?)
c.*2376del (n.*2376del)
n.235del
c.*1992del (n.*1992del)
c.37del (p.Glu13ArgfsTer?)
c.2395del (p.Glu799ArgfsTer?)
c.2332del (p.Glu778ArgfsTer?)
n.1366del
c.2401del (p.Glu801ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.6469127_6469131delinsCCTCCCA1151520312PLEKHG5c.2160_2164delinsGGAGG (p.Glu720=)
c.2334_2338delinsGGAGG (p.Glu778=)
c.2271_2275delinsGGAGG (p.Glu757=)
n.2636_2640delinsGGAGG
c.2367_2371delinsGGAGG (p.Glu789=)
c.2457_2461delinsGGAGG (p.Glu819=)
c.*2372_*2376delinsGGAGG (n.*2372_*2376delinsGGAGG)
n.231_235delinsGGAGG
c.*1988_*1992delinsGGAGG (n.*1988_*1992delinsGGAGG)
c.33_37delinsGGAGG (p.Glu11=)
c.2391_2395delinsGGAGG (p.Glu797=)
c.2328_2332delinsGGAGG (p.Glu776=)
n.1362_1366delinsGGAGG
c.2397_2401delinsGGAGG (p.Glu799=)
1g.6469127_6469128insTTCA561233PLEKHG5c.2163_2164insAA (p.Glu722LysfsTer?)
c.2337_2338insAA (p.Glu780LysfsTer?)
c.2274_2275insAA (p.Glu759LysfsTer?)
n.2639_2640insAA
c.2370_2371insAA (p.Glu791LysfsTer?)
c.2460_2461insAA (p.Glu821LysfsTer?)
c.*2375_*2376insAA (n.*2375_*2376insAA)
n.234_235insAA
c.*1991_*1992insAA (n.*1991_*1992insAA)
c.36_37insAA (p.Glu13LysfsTer?)
c.2394_2395insAA (p.Glu799LysfsTer?)
c.2331_2332insAA (p.Glu778LysfsTer?)
n.1365_1366insAA
c.2400_2401insAA (p.Glu801LysfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469128C>ACA17234894PLEKHG5c.2163G>T (p.Glu721Asp)
c.2337G>T (p.Glu779Asp)
c.2274G>T (p.Glu758Asp)
n.2639G>T
c.2370G>T (p.Glu790Asp)
c.2460G>T (p.Glu820Asp)
c.*2375G>T (n.*2375G>T)
n.234G>T
c.*1991G>T (n.*1991G>T)
c.36G>T (p.Glu12Asp)
c.2394G>T (p.Glu798Asp)
c.2331G>T (p.Glu777Asp)
n.1365G>T
c.2400G>T (p.Glu800Asp)
 ClinVar dbSNP
1g.6469128C=CA1140762427PLEKHG5c.2163G= (p.Glu721=)
c.2337G= (p.Glu779=)
c.2274G= (p.Glu758=)
n.2639G=
c.2370G= (p.Glu790=)
c.2460G= (p.Glu820=)
c.*2375G= (n.*2375G=)
n.234G=
c.*1991G= (n.*1991G=)
c.36G= (p.Glu12=)
c.2394G= (p.Glu798=)
c.2331G= (p.Glu777=)
n.1365G=
c.2400G= (p.Glu800=)
1g.6469128C>GCA338118351PLEKHG5c.2163G>C (p.Glu721Asp)
c.2337G>C (p.Glu779Asp)
c.2274G>C (p.Glu758Asp)
n.2639G>C
c.2370G>C (p.Glu790Asp)
c.2460G>C (p.Glu820Asp)
c.*2375G>C (n.*2375G>C)
n.234G>C
c.*1991G>C (n.*1991G>C)
c.36G>C (p.Glu12Asp)
c.2394G>C (p.Glu798Asp)
c.2331G>C (p.Glu777Asp)
n.1365G>C
c.2400G>C (p.Glu800Asp)
1g.6469128C>TCA201470PLEKHG5c.2163G>A (p.Glu721=)
c.2337G>A (p.Glu779=)
c.2274G>A (p.Glu758=)
n.2639G>A
c.2370G>A (p.Glu790=)
c.2460G>A (p.Glu820=)
c.*2375G>A (n.*2375G>A)
n.234G>A
c.*1991G>A (n.*1991G>A)
c.36G>A (p.Glu12=)
c.2394G>A (p.Glu798=)
c.2331G>A (p.Glu777=)
n.1365G>A
c.2400G>A (p.Glu800=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469128delinsTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCACA2580062545PLEKHG5c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2337delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu778_Glu779insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2274delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu757_Glu758insAspGluGlnGluGluGluGluGluGluGluGluGlu)
n.2639delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA
c.2370delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu789_Glu790insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2460delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu819_Glu820insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.*2375delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (n.*2375delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA)
n.234delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA
c.*1991delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (n.*1991delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA)
c.36delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu11_Glu12insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2394delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu797_Glu798insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2331delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu776_Glu777insAspGluGlnGluGluGluGluGluGluGluGluGlu)
n.1365delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA
c.2400delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu799_Glu800insAspGluGlnGluGluGluGluGluGluGluGluGlu)
 ClinVar
1g.6469129_6469130delCA913076519PLEKHG5c.2162_2163del (p.Glu721GlyfsTer?)
c.2336_2337del (p.Glu779GlyfsTer?)
c.2273_2274del (p.Glu758GlyfsTer?)
n.2638_2639del
c.2369_2370del (p.Glu790GlyfsTer?)
c.2459_2460del (p.Glu820GlyfsTer?)
c.*2374_*2375del (n.*2374_*2375del)
n.233_234del
c.*1990_*1991del (n.*1990_*1991del)
c.35_36del (p.Glu12GlyfsTer?)
c.2393_2394del (p.Glu798GlyfsTer?)
c.2330_2331del (p.Glu777GlyfsTer?)
n.1364_1365del
c.2399_2400del (p.Glu800GlyfsTer?)
1g.6469128_6469131delinsTCA17234893PLEKHG5c.2160_2163delinsA (p.Glu721del)
c.2334_2337delinsA (p.Glu779del)
c.2271_2274delinsA (p.Glu758del)
n.2636_2639delinsA
c.2367_2370delinsA (p.Glu790del)
c.2457_2460delinsA (p.Glu820del)
c.*2372_*2375delinsA (n.*2372_*2375delinsA)
n.231_234delinsA
c.*1988_*1991delinsA (n.*1988_*1991delinsA)
c.33_36delinsA (p.Glu12del)
c.2391_2394delinsA (p.Glu798del)
c.2328_2331delinsA (p.Glu777del)
n.1362_1365delinsA
c.2397_2400delinsA (p.Glu800del)
 ClinVar dbSNP
1g.6469128_6469131delinsCTCCCA1144216155PLEKHG5c.2160_2163delinsGGAG (p.Glu720=)
c.2334_2337delinsGGAG (p.Glu778=)
c.2271_2274delinsGGAG (p.Glu757=)
n.2636_2639delinsGGAG
c.2367_2370delinsGGAG (p.Glu789=)
c.2457_2460delinsGGAG (p.Glu819=)
c.*2372_*2375delinsGGAG (n.*2372_*2375delinsGGAG)
n.231_234delinsGGAG
c.*1988_*1991delinsGGAG (n.*1988_*1991delinsGGAG)
c.33_36delinsGGAG (p.Glu11=)
c.2391_2394delinsGGAG (p.Glu797=)
c.2328_2331delinsGGAG (p.Glu776=)
n.1362_1365delinsGGAG
c.2397_2400delinsGGAG (p.Glu799=)
1g.6469128_6469149delinsCTCCTCCTCCTCCTCCTCCTCTCA1151520330PLEKHG5c.2142_2163delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu714=)
c.2316_2337delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu772=)
c.2253_2274delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu751=)
n.2618_2639delinsAGAGGAGGAGGAGGAGGAGGAG
c.2349_2370delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu783=)
c.2439_2460delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu813=)
c.*2354_*2375delinsAGAGGAGGAGGAGGAGGAGGAG (n.*2354_*2375delinsAGAGGAGGAGGAGGAGGAGGAG)
n.213_234delinsAGAGGAGGAGGAGGAGGAGGAG
c.*1970_*1991delinsAGAGGAGGAGGAGGAGGAGGAG (n.*1970_*1991delinsAGAGGAGGAGGAGGAGGAGGAG)
c.15_36delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu5=)
c.2373_2394delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu791=)
c.2310_2331delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu770=)
n.1344_1365delinsAGAGGAGGAGGAGGAGGAGGAG
c.2379_2400delinsAGAGGAGGAGGAGGAGGAGGAG (p.Glu793=)
1g.6469128_6469129insCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCACA561234PLEKHG5c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721AspfsTer?)
c.2336_2337insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu779AspfsTer?)
c.2273_2274insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu758AspfsTer?)
n.2638_2639insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG
c.2369_2370insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu790AspfsTer?)
c.2459_2460insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu820AspfsTer?)
c.*2374_*2375insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (n.*2374_*2375insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG)
n.233_234insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG
c.*1990_*1991insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (n.*1990_*1991insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG)
c.35_36insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu12AspfsTer?)
c.2393_2394insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu798AspfsTer?)
c.2330_2331insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu777AspfsTer?)
n.1364_1365insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG
c.2399_2400insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu800AspfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469129T>ACA338118358PLEKHG5c.2162A>T (p.Glu721Val)
c.2336A>T (p.Glu779Val)
c.2273A>T (p.Glu758Val)
n.2638A>T
c.2369A>T (p.Glu790Val)
c.2459A>T (p.Glu820Val)
c.*2374A>T (n.*2374A>T)
n.233A>T
c.*1990A>T (n.*1990A>T)
c.35A>T (p.Glu12Val)
c.2393A>T (p.Glu798Val)
c.2330A>T (p.Glu777Val)
n.1364A>T
c.2399A>T (p.Glu800Val)
1g.6469129T>CCA338118364PLEKHG5c.2162A>G (p.Glu721Gly)
c.2336A>G (p.Glu779Gly)
c.2273A>G (p.Glu758Gly)
n.2638A>G
c.2369A>G (p.Glu790Gly)
c.2459A>G (p.Glu820Gly)
c.*2374A>G (n.*2374A>G)
n.233A>G
c.*1990A>G (n.*1990A>G)
c.35A>G (p.Glu12Gly)
c.2393A>G (p.Glu798Gly)
c.2330A>G (p.Glu777Gly)
n.1364A>G
c.2399A>G (p.Glu800Gly)
1g.6469129T>GCA338118366PLEKHG5c.2162A>C (p.Glu721Ala)
c.2336A>C (p.Glu779Ala)
c.2273A>C (p.Glu758Ala)
n.2638A>C
c.2369A>C (p.Glu790Ala)
c.2459A>C (p.Glu820Ala)
c.*2374A>C (n.*2374A>C)
n.233A>C
c.*1990A>C (n.*1990A>C)
c.35A>C (p.Glu12Ala)
c.2393A>C (p.Glu798Ala)
c.2330A>C (p.Glu777Ala)
n.1364A>C
c.2399A>C (p.Glu800Ala)
1g.6469129_6469130delinsTCCA1151520367PLEKHG5c.2161_2162delinsGA (p.Glu721=)
c.2335_2336delinsGA (p.Glu779=)
c.2272_2273delinsGA (p.Glu758=)
n.2637_2638delinsGA
c.2368_2369delinsGA (p.Glu790=)
c.2458_2459delinsGA (p.Glu820=)
c.*2373_*2374delinsGA (n.*2373_*2374delinsGA)
n.232_233delinsGA
c.*1989_*1990delinsGA (n.*1989_*1990delinsGA)
c.34_35delinsGA (p.Glu12=)
c.2392_2393delinsGA (p.Glu798=)
c.2329_2330delinsGA (p.Glu777=)
n.1363_1364delinsGA
c.2398_2399delinsGA (p.Glu800=)
1g.6469129_6469131delinsTCCCA1151520360PLEKHG5c.2160_2162delinsGGA (p.Glu720=)
c.2334_2336delinsGGA (p.Glu778=)
c.2271_2273delinsGGA (p.Glu757=)
n.2636_2638delinsGGA
c.2367_2369delinsGGA (p.Glu789=)
c.2457_2459delinsGGA (p.Glu819=)
c.*2372_*2374delinsGGA (n.*2372_*2374delinsGGA)
n.231_233delinsGGA
c.*1988_*1990delinsGGA (n.*1988_*1990delinsGGA)
c.33_35delinsGGA (p.Glu11=)
c.2391_2393delinsGGA (p.Glu797=)
c.2328_2330delinsGGA (p.Glu776=)
n.1362_1364delinsGGA
c.2397_2399delinsGGA (p.Glu799=)
1g.6469134_6469135insCCTCCTCCTCCTCTTCCTCCCA561235PLEKHG5c.2162_2163insAGAGGAGGAGGAGGGGAGGA (p.Gly724GlufsTer?)
c.2336_2337insAGAGGAGGAGGAGGGGAGGA (p.Gly782GlufsTer?)
c.2273_2274insAGAGGAGGAGGAGGGGAGGA (p.Gly761GlufsTer?)
n.2638_2639insAGAGGAGGAGGAGGGGAGGA
c.2369_2370insAGAGGAGGAGGAGGGGAGGA (p.Gly793GlufsTer?)
c.2459_2460insAGAGGAGGAGGAGGGGAGGA (p.Gly823GlufsTer?)
c.*2374_*2375insAGAGGAGGAGGAGGGGAGGA (n.*2374_*2375insAGAGGAGGAGGAGGGGAGGA)
n.233_234insAGAGGAGGAGGAGGGGAGGA
c.*1990_*1991insAGAGGAGGAGGAGGGGAGGA (n.*1990_*1991insAGAGGAGGAGGAGGGGAGGA)
c.35_36insAGAGGAGGAGGAGGGGAGGA (p.Gly15GlufsTer?)
c.2393_2394insAGAGGAGGAGGAGGGGAGGA (p.Gly801GlufsTer?)
c.2330_2331insAGAGGAGGAGGAGGGGAGGA (p.Gly780GlufsTer?)
n.1364_1365insAGAGGAGGAGGAGGGGAGGA
c.2399_2400insAGAGGAGGAGGAGGGGAGGA (p.Gly803GlufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469142_6469143insTTCCTCCTCCTGCTCATCCTCCTCCTCCTCCA2642975126PLEKHG5c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGlu)
c.2336_2337insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu778_Glu779insAspGluGlnGluGluGluGluGluGluGlu)
c.2273_2274insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu757_Glu758insAspGluGlnGluGluGluGluGluGluGlu)
n.2638_2639insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA
c.2369_2370insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu789_Glu790insAspGluGlnGluGluGluGluGluGluGlu)
c.2459_2460insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu819_Glu820insAspGluGlnGluGluGluGluGluGluGlu)
c.*2374_*2375insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (n.*2374_*2375insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA)
n.233_234insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA
c.*1990_*1991insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (n.*1990_*1991insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA)
c.35_36insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu11_Glu12insAspGluGlnGluGluGluGluGluGluGlu)
c.2393_2394insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu797_Glu798insAspGluGlnGluGluGluGluGluGluGlu)
c.2330_2331insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu776_Glu777insAspGluGlnGluGluGluGluGluGluGlu)
n.1364_1365insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA
c.2399_2400insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu799_Glu800insAspGluGlnGluGluGluGluGluGluGlu)
 gnomAD v4
1g.6469139_6469159delCA561236PLEKHG5c.2142_2162del (p.Glu715_Glu721del)
c.2316_2336del (p.Glu773_Glu779del)
c.2253_2273del (p.Glu752_Glu758del)
n.2618_2638del
c.2349_2369del (p.Glu784_Glu790del)
c.2439_2459del (p.Glu814_Glu820del)
c.*2354_*2374del (n.*2354_*2374del)
n.213_233del
c.*1970_*1990del (n.*1970_*1990del)
c.15_35del (p.Glu6_Glu12del)
c.2373_2393del (p.Glu792_Glu798del)
c.2310_2330del (p.Glu771_Glu777del)
n.1344_1364del
c.2379_2399del (p.Glu794_Glu800del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6469140_6469175dupCA658795382PLEKHG5c.2127_2162dup (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2301_2336dup (p.Glu778_Glu779insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2238_2273dup (p.Glu757_Glu758insAspGluGlnGluGluGluGluGluGluGluGluGlu)
n.2603_2638dup
c.2334_2369dup (p.Glu789_Glu790insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2424_2459dup (p.Glu819_Glu820insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.*2339_*2374dup (n.*2339_*2374dup)
n.198_233dup
c.*1955_*1990dup (n.*1955_*1990dup)
c.2358_2393dup (p.Glu797_Glu798insAspGluGlnGluGluGluGluGluGluGluGluGlu)
c.2295_2330dup (p.Glu776_Glu777insAspGluGlnGluGluGluGluGluGluGluGluGlu)
n.1329_1364dup
c.2364_2399dup (p.Glu799_Glu800insAspGluGlnGluGluGluGluGluGluGluGluGlu)
 ClinVar dbSNP
1g.6469130C>ACA338118384PLEKHG5c.2161G>T (p.Glu721Ter)
c.2335G>T (p.Glu779Ter)
c.2272G>T (p.Glu758Ter)
n.2637G>T
c.2368G>T (p.Glu790Ter)
c.2458G>T (p.Glu820Ter)
c.*2373G>T (n.*2373G>T)
n.232G>T
c.*1989G>T (n.*1989G>T)
c.34G>T (p.Glu12Ter)
c.2392G>T (p.Glu798Ter)
c.2329G>T (p.Glu777Ter)
n.1363G>T
c.2398G>T (p.Glu800Ter)
1g.6469130C=CA1151520376PLEKHG5c.2161G= (p.Glu721=)
c.2335G= (p.Glu779=)
c.2272G= (p.Glu758=)
n.2637G=
c.2368G= (p.Glu790=)
c.2458G= (p.Glu820=)
c.*2373G= (n.*2373G=)
n.232G=
c.*1989G= (n.*1989G=)
c.34G= (p.Glu12=)
c.2392G= (p.Glu798=)
c.2329G= (p.Glu777=)
n.1363G=
c.2398G= (p.Glu800=)
1g.6469130C>GCA338118392PLEKHG5c.2161G>C (p.Glu721Gln)
c.2335G>C (p.Glu779Gln)
c.2272G>C (p.Glu758Gln)
n.2637G>C
c.2368G>C (p.Glu790Gln)
c.2458G>C (p.Glu820Gln)
c.*2373G>C (n.*2373G>C)
n.232G>C
c.*1989G>C (n.*1989G>C)
c.34G>C (p.Glu12Gln)
c.2392G>C (p.Glu798Gln)
c.2329G>C (p.Glu777Gln)
n.1363G>C
c.2398G>C (p.Glu800Gln)
1g.6469130C>TCA17234907PLEKHG5c.2161G>A (p.Glu721Lys)
c.2335G>A (p.Glu779Lys)
c.2272G>A (p.Glu758Lys)
n.2637G>A
c.2368G>A (p.Glu790Lys)
c.2458G>A (p.Glu820Lys)
c.*2373G>A (n.*2373G>A)
n.232G>A
c.*1989G>A (n.*1989G>A)
c.34G>A (p.Glu12Lys)
c.2392G>A (p.Glu798Lys)
c.2329G>A (p.Glu777Lys)
n.1363G>A
c.2398G>A (p.Glu800Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.6469130_6469131delCA561237PLEKHG5c.2160_2161del (p.Glu721GlyfsTer?)
c.2334_2335del (p.Glu779GlyfsTer?)
c.2271_2272del (p.Glu758GlyfsTer?)
n.2636_2637del
c.2367_2368del (p.Glu790GlyfsTer?)
c.2457_2458del (p.Glu820GlyfsTer?)
c.*2372_*2373del (n.*2372_*2373del)
n.231_232del
c.*1988_*1989del (n.*1988_*1989del)
c.33_34del (p.Glu12GlyfsTer?)
c.2391_2392del (p.Glu798GlyfsTer?)
c.2328_2329del (p.Glu777GlyfsTer?)
n.1362_1363del
c.2397_2398del (p.Glu800GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469130_6469131delinsCCCA1145555029PLEKHG5c.2160_2161delinsGG (p.Glu720=)
c.2334_2335delinsGG (p.Glu778=)
c.2271_2272delinsGG (p.Glu757=)
n.2636_2637delinsGG
c.2367_2368delinsGG (p.Glu789=)
c.2457_2458delinsGG (p.Glu819=)
c.*2372_*2373delinsGG (n.*2372_*2373delinsGG)
n.231_232delinsGG
c.*1988_*1989delinsGG (n.*1988_*1989delinsGG)
c.33_34delinsGG (p.Glu11=)
c.2391_2392delinsGG (p.Glu797=)
c.2328_2329delinsGG (p.Glu776=)
n.1362_1363delinsGG
c.2397_2398delinsGG (p.Glu799=)
1g.6469131delCA561238PLEKHG5c.2161del (p.Glu721ArgfsTer?)
c.2335del (p.Glu779ArgfsTer?)
c.2272del (p.Glu758ArgfsTer?)
n.2637del
c.2368del (p.Glu790ArgfsTer?)
c.2458del (p.Glu820ArgfsTer?)
c.*2373del (n.*2373del)
n.232del
c.*1989del (n.*1989del)
c.34del (p.Glu12ArgfsTer?)
c.2392del (p.Glu798ArgfsTer?)
c.2329del (p.Glu777ArgfsTer?)
n.1363del
c.2398del (p.Glu800ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469130_6469134delCA2642975144PLEKHG5c.2157_2161del (p.Glu720GlyfsTer?)
c.2331_2335del (p.Glu778GlyfsTer?)
c.2268_2272del (p.Glu757GlyfsTer?)
n.2633_2637del
c.2364_2368del (p.Glu789GlyfsTer?)
c.2454_2458del (p.Glu819GlyfsTer?)
c.*2369_*2373del (n.*2369_*2373del)
n.228_232del
c.*1985_*1989del (n.*1985_*1989del)
c.30_34del (p.Glu11GlyfsTer?)
c.2388_2392del (p.Glu797GlyfsTer?)
c.2325_2329del (p.Glu776GlyfsTer?)
n.1359_1363del
c.2394_2398del (p.Glu799GlyfsTer?)
 gnomAD v4
1g.6469130_6469137delCA2642975146PLEKHG5c.2154_2161del (p.Glu719GlyfsTer?)
c.2328_2335del (p.Glu777GlyfsTer?)
c.2265_2272del (p.Glu756GlyfsTer?)
n.2630_2637del
c.2361_2368del (p.Glu788GlyfsTer?)
c.2451_2458del (p.Glu818GlyfsTer?)
c.*2366_*2373del (n.*2366_*2373del)
n.225_232del
c.*1982_*1989del (n.*1982_*1989del)
c.27_34del (p.Glu10GlyfsTer?)
c.2385_2392del (p.Glu796GlyfsTer?)
c.2322_2329del (p.Glu775GlyfsTer?)
n.1356_1363del
c.2391_2398del (p.Glu798GlyfsTer?)
 gnomAD v4
1g.6469131C>ACA338118395PLEKHG5c.2160G>T (p.Glu720Asp)
c.2334G>T (p.Glu778Asp)
c.2271G>T (p.Glu757Asp)
n.2636G>T
c.2367G>T (p.Glu789Asp)
c.2457G>T (p.Glu819Asp)
c.*2372G>T (n.*2372G>T)
n.231G>T
c.*1988G>T (n.*1988G>T)
c.33G>T (p.Glu11Asp)
c.2391G>T (p.Glu797Asp)
c.2328G>T (p.Glu776Asp)
n.1362G>T
c.2397G>T (p.Glu799Asp)
1g.6469131C=CA1151520382PLEKHG5c.2160G= (p.Glu720=)
c.2334G= (p.Glu778=)
c.2271G= (p.Glu757=)
n.2636G=
c.2367G= (p.Glu789=)
c.2457G= (p.Glu819=)
c.*2372G= (n.*2372G=)
n.231G=
c.*1988G= (n.*1988G=)
c.33G= (p.Glu11=)
c.2391G= (p.Glu797=)
c.2328G= (p.Glu776=)
n.1362G=
c.2397G= (p.Glu799=)
1g.6469131C>GCA338118398PLEKHG5c.2160G>C (p.Glu720Asp)
c.2334G>C (p.Glu778Asp)
c.2271G>C (p.Glu757Asp)
n.2636G>C
c.2367G>C (p.Glu789Asp)
c.2457G>C (p.Glu819Asp)
c.*2372G>C (n.*2372G>C)
n.231G>C
c.*1988G>C (n.*1988G>C)
c.33G>C (p.Glu11Asp)
c.2391G>C (p.Glu797Asp)
c.2328G>C (p.Glu776Asp)
n.1362G>C
c.2397G>C (p.Glu799Asp)
1g.6469131C>TCA10604822PLEKHG5c.2160G>A (p.Glu720=)
c.2334G>A (p.Glu778=)
c.2271G>A (p.Glu757=)
n.2636G>A
c.2367G>A (p.Glu789=)
c.2457G>A (p.Glu819=)
c.*2372G>A (n.*2372G>A)
n.231G>A
c.*1988G>A (n.*1988G>A)
c.33G>A (p.Glu11=)
c.2391G>A (p.Glu797=)
c.2328G>A (p.Glu776=)
n.1362G>A
c.2397G>A (p.Glu799=)
 ClinVar dbSNP gnomAD v4
1g.6469131_6469149delinsCTCCTCCTCCTCCTCCTCTCA1151520390PLEKHG5c.2142_2160delinsAGAGGAGGAGGAGGAGGAG (p.Glu714=)
c.2316_2334delinsAGAGGAGGAGGAGGAGGAG (p.Glu772=)
c.2253_2271delinsAGAGGAGGAGGAGGAGGAG (p.Glu751=)
n.2618_2636delinsAGAGGAGGAGGAGGAGGAG
c.2349_2367delinsAGAGGAGGAGGAGGAGGAG (p.Glu783=)
c.2439_2457delinsAGAGGAGGAGGAGGAGGAG (p.Glu813=)
c.*2354_*2372delinsAGAGGAGGAGGAGGAGGAG (n.*2354_*2372delinsAGAGGAGGAGGAGGAGGAG)
n.213_231delinsAGAGGAGGAGGAGGAGGAG
c.*1970_*1988delinsAGAGGAGGAGGAGGAGGAG (n.*1970_*1988delinsAGAGGAGGAGGAGGAGGAG)
c.15_33delinsAGAGGAGGAGGAGGAGGAG (p.Glu5=)
c.2373_2391delinsAGAGGAGGAGGAGGAGGAG (p.Glu791=)
c.2310_2328delinsAGAGGAGGAGGAGGAGGAG (p.Glu770=)
n.1344_1362delinsAGAGGAGGAGGAGGAGGAG
c.2379_2397delinsAGAGGAGGAGGAGGAGGAG (p.Glu793=)
1g.6469132T>ACA338118401PLEKHG5c.2159A>T (p.Glu720Val)
c.2333A>T (p.Glu778Val)
c.2270A>T (p.Glu757Val)
n.2635A>T
c.2366A>T (p.Glu789Val)
c.2456A>T (p.Glu819Val)
c.*2371A>T (n.*2371A>T)
n.230A>T
c.*1987A>T (n.*1987A>T)
c.32A>T (p.Glu11Val)
c.2390A>T (p.Glu797Val)
c.2327A>T (p.Glu776Val)
n.1361A>T
c.2396A>T (p.Glu799Val)
1g.6469132T>CCA338118402PLEKHG5c.2159A>G (p.Glu720Gly)
c.2333A>G (p.Glu778Gly)
c.2270A>G (p.Glu757Gly)
n.2635A>G
c.2366A>G (p.Glu789Gly)
c.2456A>G (p.Glu819Gly)
c.*2371A>G (n.*2371A>G)
n.230A>G
c.*1987A>G (n.*1987A>G)
c.32A>G (p.Glu11Gly)
c.2390A>G (p.Glu797Gly)
c.2327A>G (p.Glu776Gly)
n.1361A>G
c.2396A>G (p.Glu799Gly)
1g.6469132T>GCA338118404PLEKHG5c.2159A>C (p.Glu720Ala)
c.2333A>C (p.Glu778Ala)
c.2270A>C (p.Glu757Ala)
n.2635A>C
c.2366A>C (p.Glu789Ala)
c.2456A>C (p.Glu819Ala)
c.*2371A>C (n.*2371A>C)
n.230A>C
c.*1987A>C (n.*1987A>C)
c.32A>C (p.Glu11Ala)
c.2390A>C (p.Glu797Ala)
c.2327A>C (p.Glu776Ala)
n.1361A>C
c.2396A>C (p.Glu799Ala)
1g.6469142_6469143insTTCCTCCTCCTCCA2642975163PLEKHG5c.2159_2160insAGAGGAGGAGGA (p.Glu720_Glu721insGluGluGluGlu)
c.2333_2334insAGAGGAGGAGGA (p.Glu778_Glu779insGluGluGluGlu)
c.2270_2271insAGAGGAGGAGGA (p.Glu757_Glu758insGluGluGluGlu)
n.2635_2636insAGAGGAGGAGGA
c.2366_2367insAGAGGAGGAGGA (p.Glu789_Glu790insGluGluGluGlu)
c.2456_2457insAGAGGAGGAGGA (p.Glu819_Glu820insGluGluGluGlu)
c.*2371_*2372insAGAGGAGGAGGA (n.*2371_*2372insAGAGGAGGAGGA)
n.230_231insAGAGGAGGAGGA
c.*1987_*1988insAGAGGAGGAGGA (n.*1987_*1988insAGAGGAGGAGGA)
c.32_33insAGAGGAGGAGGA (p.Glu11_Glu12insGluGluGluGlu)
c.2390_2391insAGAGGAGGAGGA (p.Glu797_Glu798insGluGluGluGlu)
c.2327_2328insAGAGGAGGAGGA (p.Glu776_Glu777insGluGluGluGlu)
n.1361_1362insAGAGGAGGAGGA
c.2396_2397insAGAGGAGGAGGA (p.Glu799_Glu800insGluGluGluGlu)
 gnomAD v4
1g.6469145_6469146insTTCCTCCTCCTGCTCATCCTCCTCCTCCTCCA2642975161PLEKHG5c.2159_2160insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu719_Glu720insAspGluGlnGluGluGluGluGluGluGlu)
c.2333_2334insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu777_Glu778insAspGluGlnGluGluGluGluGluGluGlu)
c.2270_2271insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu756_Glu757insAspGluGlnGluGluGluGluGluGluGlu)
n.2635_2636insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA
c.2366_2367insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu788_Glu789insAspGluGlnGluGluGluGluGluGluGlu)
c.2456_2457insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu818_Glu819insAspGluGlnGluGluGluGluGluGluGlu)
c.*2371_*2372insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (n.*2371_*2372insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA)
n.230_231insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA
c.*1987_*1988insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (n.*1987_*1988insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA)
c.32_33insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu10_Glu11insAspGluGlnGluGluGluGluGluGluGlu)
c.2390_2391insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu796_Glu797insAspGluGlnGluGluGluGluGluGluGlu)
c.2327_2328insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu775_Glu776insAspGluGlnGluGluGluGluGluGluGlu)
n.1361_1362insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA
c.2396_2397insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGA (p.Glu798_Glu799insAspGluGlnGluGluGluGluGluGluGlu)
 gnomAD v4
1g.6469142_6469159delCA737847594PLEKHG5c.2142_2159del (p.Glu715_Glu720del)
c.2316_2333del (p.Glu773_Glu778del)
c.2253_2270del (p.Glu752_Glu757del)
n.2618_2635del
c.2349_2366del (p.Glu784_Glu789del)
c.2439_2456del (p.Glu814_Glu819del)
c.*2354_*2371del (n.*2354_*2371del)
n.213_230del
c.*1970_*1987del (n.*1970_*1987del)
c.15_32del (p.Glu6_Glu11del)
c.2373_2390del (p.Glu792_Glu797del)
c.2310_2327del (p.Glu771_Glu776del)
n.1344_1361del
c.2379_2396del (p.Glu794_Glu799del)
 dbSNP gnomAD v4
1g.6469133C>ACA338118415PLEKHG5c.2158G>T (p.Glu720Ter)
c.2332G>T (p.Glu778Ter)
c.2269G>T (p.Glu757Ter)
n.2634G>T
c.2365G>T (p.Glu789Ter)
c.2455G>T (p.Glu819Ter)
c.*2370G>T (n.*2370G>T)
n.229G>T
c.*1986G>T (n.*1986G>T)
c.31G>T (p.Glu11Ter)
c.2389G>T (p.Glu797Ter)
c.2326G>T (p.Glu776Ter)
n.1360G>T
c.2395G>T (p.Glu799Ter)
 ClinVar gnomAD v4
1g.6469133C=CA1151520401PLEKHG5c.2158G= (p.Glu720=)
c.2332G= (p.Glu778=)
c.2269G= (p.Glu757=)
n.2634G=
c.2365G= (p.Glu789=)
c.2455G= (p.Glu819=)
c.*2370G= (n.*2370G=)
n.229G=
c.*1986G= (n.*1986G=)
c.31G= (p.Glu11=)
c.2389G= (p.Glu797=)
c.2326G= (p.Glu776=)
n.1360G=
c.2395G= (p.Glu799=)
1g.6469133C>GCA338118419PLEKHG5c.2158G>C (p.Glu720Gln)
c.2332G>C (p.Glu778Gln)
c.2269G>C (p.Glu757Gln)
n.2634G>C
c.2365G>C (p.Glu789Gln)
c.2455G>C (p.Glu819Gln)
c.*2370G>C (n.*2370G>C)
n.229G>C
c.*1986G>C (n.*1986G>C)
c.31G>C (p.Glu11Gln)
c.2389G>C (p.Glu797Gln)
c.2326G>C (p.Glu776Gln)
n.1360G>C
c.2395G>C (p.Glu799Gln)
 dbSNP
1g.6469133C>TCA338118423PLEKHG5c.2158G>A (p.Glu720Lys)
c.2332G>A (p.Glu778Lys)
c.2269G>A (p.Glu757Lys)
n.2634G>A
c.2365G>A (p.Glu789Lys)
c.2455G>A (p.Glu819Lys)
c.*2370G>A (n.*2370G>A)
n.229G>A
c.*1986G>A (n.*1986G>A)
c.31G>A (p.Glu11Lys)
c.2389G>A (p.Glu797Lys)
c.2326G>A (p.Glu776Lys)
n.1360G>A
c.2395G>A (p.Glu799Lys)
1g.6469133_6469134delCA2642975172PLEKHG5c.2157_2158del (p.Glu720GlyfsTer?)
c.2331_2332del (p.Glu778GlyfsTer?)
c.2268_2269del (p.Glu757GlyfsTer?)
n.2633_2634del
c.2364_2365del (p.Glu789GlyfsTer?)
c.2454_2455del (p.Glu819GlyfsTer?)
c.*2369_*2370del (n.*2369_*2370del)
n.228_229del
c.*1985_*1986del (n.*1985_*1986del)
c.30_31del (p.Glu11GlyfsTer?)
c.2388_2389del (p.Glu797GlyfsTer?)
c.2325_2326del (p.Glu776GlyfsTer?)
n.1359_1360del
c.2394_2395del (p.Glu799GlyfsTer?)
 gnomAD v4
1g.6469134C>ACA338118431PLEKHG5c.2157G>T (p.Glu719Asp)
c.2331G>T (p.Glu777Asp)
c.2268G>T (p.Glu756Asp)
n.2633G>T
c.2364G>T (p.Glu788Asp)
c.2454G>T (p.Glu818Asp)
c.*2369G>T (n.*2369G>T)
n.228G>T
c.*1985G>T (n.*1985G>T)
c.30G>T (p.Glu10Asp)
c.2388G>T (p.Glu796Asp)
c.2325G>T (p.Glu775Asp)
n.1359G>T
c.2394G>T (p.Glu798Asp)
1g.6469134C=CA1151520409PLEKHG5c.2157G= (p.Glu719=)
c.2331G= (p.Glu777=)
c.2268G= (p.Glu756=)
n.2633G=
c.2364G= (p.Glu788=)
c.2454G= (p.Glu818=)
c.*2369G= (n.*2369G=)
n.228G=
c.*1985G= (n.*1985G=)
c.30G= (p.Glu10=)
c.2388G= (p.Glu796=)
c.2325G= (p.Glu775=)
n.1359G=
c.2394G= (p.Glu798=)
1g.6469134C>GCA338118432PLEKHG5c.2157G>C (p.Glu719Asp)
c.2331G>C (p.Glu777Asp)
c.2268G>C (p.Glu756Asp)
n.2633G>C
c.2364G>C (p.Glu788Asp)
c.2454G>C (p.Glu818Asp)
c.*2369G>C (n.*2369G>C)
n.228G>C
c.*1985G>C (n.*1985G>C)
c.30G>C (p.Glu10Asp)
c.2388G>C (p.Glu796Asp)
c.2325G>C (p.Glu775Asp)
n.1359G>C
c.2394G>C (p.Glu798Asp)
1g.6469134C>TCA416022285PLEKHG5c.2157G>A (p.Glu719=)
c.2331G>A (p.Glu777=)
c.2268G>A (p.Glu756=)
n.2633G>A
c.2364G>A (p.Glu788=)
c.2454G>A (p.Glu818=)
c.*2369G>A (n.*2369G>A)
n.228G>A
c.*1985G>A (n.*1985G>A)
c.30G>A (p.Glu10=)
c.2388G>A (p.Glu796=)
c.2325G>A (p.Glu775=)
n.1359G>A
c.2394G>A (p.Glu798=)
 ClinVar dbSNP
1g.6469134_6469135delinsCTCA1151520418PLEKHG5c.2156_2157delinsAG (p.Glu719=)
c.2330_2331delinsAG (p.Glu777=)
c.2267_2268delinsAG (p.Glu756=)
n.2632_2633delinsAG
c.2363_2364delinsAG (p.Glu788=)
c.2453_2454delinsAG (p.Glu818=)
c.*2368_*2369delinsAG (n.*2368_*2369delinsAG)
n.227_228delinsAG
c.*1984_*1985delinsAG (n.*1984_*1985delinsAG)
c.29_30delinsAG (p.Glu10=)
c.2387_2388delinsAG (p.Glu796=)
c.2324_2325delinsAG (p.Glu775=)
n.1358_1359delinsAG
c.2393_2394delinsAG (p.Glu798=)
1g.6469134_6469149delinsCTCCTCCTCCTCCTCTCA1151520422PLEKHG5c.2142_2157delinsAGAGGAGGAGGAGGAG (p.Glu714=)
c.2316_2331delinsAGAGGAGGAGGAGGAG (p.Glu772=)
c.2253_2268delinsAGAGGAGGAGGAGGAG (p.Glu751=)
n.2618_2633delinsAGAGGAGGAGGAGGAG
c.2349_2364delinsAGAGGAGGAGGAGGAG (p.Glu783=)
c.2439_2454delinsAGAGGAGGAGGAGGAG (p.Glu813=)
c.*2354_*2369delinsAGAGGAGGAGGAGGAG (n.*2354_*2369delinsAGAGGAGGAGGAGGAG)
n.213_228delinsAGAGGAGGAGGAGGAG
c.*1970_*1985delinsAGAGGAGGAGGAGGAG (n.*1970_*1985delinsAGAGGAGGAGGAGGAG)
c.15_30delinsAGAGGAGGAGGAGGAG (p.Glu5=)
c.2373_2388delinsAGAGGAGGAGGAGGAG (p.Glu791=)
c.2310_2325delinsAGAGGAGGAGGAGGAG (p.Glu770=)
n.1344_1359delinsAGAGGAGGAGGAGGAG
c.2379_2394delinsAGAGGAGGAGGAGGAG (p.Glu793=)
1g.6469134_6469164delinsCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCACA1151520415PLEKHG5c.2127_2157delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp709=)
c.2301_2331delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp767=)
c.2238_2268delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp746=)
n.2603_2633delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG
c.2334_2364delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp778=)
c.2424_2454delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp808=)
c.*2339_*2369delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (n.*2339_*2369delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG)
n.198_228delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG
c.*1955_*1985delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (n.*1955_*1985delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG)
c.2358_2388delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp786=)
c.2295_2325delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp765=)
n.1329_1359delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG
c.2364_2394delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAG (p.Asp788=)
1g.6469135delCA416022295PLEKHG5c.2156del (p.Glu719GlyfsTer?)
c.2330del (p.Glu777GlyfsTer?)
c.2267del (p.Glu756GlyfsTer?)
n.2632del
c.2363del (p.Glu788GlyfsTer?)
c.2453del (p.Glu818GlyfsTer?)
c.*2368del (n.*2368del)
n.227del
c.*1984del (n.*1984del)
c.29del (p.Glu10GlyfsTer?)
c.2387del (p.Glu796GlyfsTer?)
c.2324del (p.Glu775GlyfsTer?)
n.1358del
c.2393del (p.Glu798GlyfsTer?)
 dbSNP
1g.6469135T>ACA338118435PLEKHG5c.2156A>T (p.Glu719Val)
c.2330A>T (p.Glu777Val)
c.2267A>T (p.Glu756Val)
n.2632A>T
c.2363A>T (p.Glu788Val)
c.2453A>T (p.Glu818Val)
c.*2368A>T (n.*2368A>T)
n.227A>T
c.*1984A>T (n.*1984A>T)
c.29A>T (p.Glu10Val)
c.2387A>T (p.Glu796Val)
c.2324A>T (p.Glu775Val)
n.1358A>T
c.2393A>T (p.Glu798Val)
1g.6469135T>CCA338118453PLEKHG5c.2156A>G (p.Glu719Gly)
c.2330A>G (p.Glu777Gly)
c.2267A>G (p.Glu756Gly)
n.2632A>G
c.2363A>G (p.Glu788Gly)
c.2453A>G (p.Glu818Gly)
c.*2368A>G (n.*2368A>G)
n.227A>G
c.*1984A>G (n.*1984A>G)
c.29A>G (p.Glu10Gly)
c.2387A>G (p.Glu796Gly)
c.2324A>G (p.Glu775Gly)
n.1358A>G
c.2393A>G (p.Glu798Gly)
1g.6469135T>GCA338118441PLEKHG5c.2156A>C (p.Glu719Ala)
c.2330A>C (p.Glu777Ala)
c.2267A>C (p.Glu756Ala)
n.2632A>C
c.2363A>C (p.Glu788Ala)
c.2453A>C (p.Glu818Ala)
c.*2368A>C (n.*2368A>C)
n.227A>C
c.*1984A>C (n.*1984A>C)
c.29A>C (p.Glu10Ala)
c.2387A>C (p.Glu796Ala)
c.2324A>C (p.Glu775Ala)
n.1358A>C
c.2393A>C (p.Glu798Ala)
1g.6469136_6469137insTTCCA658656872PLEKHG5c.2156_2157insAGA (p.Glu719_Glu720insGlu)
c.2330_2331insAGA (p.Glu777_Glu778insGlu)
c.2267_2268insAGA (p.Glu756_Glu757insGlu)
n.2632_2633insAGA
c.2363_2364insAGA (p.Glu788_Glu789insGlu)
c.2453_2454insAGA (p.Glu818_Glu819insGlu)
c.*2368_*2369insAGA (n.*2368_*2369insAGA)
n.227_228insAGA
c.*1984_*1985insAGA (n.*1984_*1985insAGA)
c.29_30insAGA (p.Glu10_Glu11insGlu)
c.2387_2388insAGA (p.Glu796_Glu797insGlu)
c.2324_2325insAGA (p.Glu775_Glu776insGlu)
n.1358_1359insAGA
c.2393_2394insAGA (p.Glu798_Glu799insGlu)
 ClinVar dbSNP
1g.6469145_6469159delCA561239PLEKHG5c.2142_2156del (p.Glu715_Glu719del)
c.2316_2330del (p.Glu773_Glu777del)
c.2253_2267del (p.Glu752_Glu756del)
n.2618_2632del
c.2349_2363del (p.Glu784_Glu788del)
c.2439_2453del (p.Glu814_Glu818del)
c.*2354_*2368del (n.*2354_*2368del)
n.213_227del
c.*1970_*1984del (n.*1970_*1984del)
c.15_29del (p.Glu6_Glu10del)
c.2373_2387del (p.Glu792_Glu796del)
c.2310_2324del (p.Glu771_Glu775del)
n.1344_1358del
c.2379_2393del (p.Glu794_Glu798del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469146_6469175delCA998186542PLEKHG5c.2127_2156del (p.Asp709_Glu718del)
c.2301_2330del (p.Asp767_Glu776del)
c.2238_2267del (p.Asp746_Glu755del)
n.2603_2632del
c.2334_2363del (p.Asp778_Glu787del)
c.2424_2453del (p.Asp808_Glu817del)
c.*2339_*2368del (n.*2339_*2368del)
n.198_227del
c.*1955_*1984del (n.*1955_*1984del)
c.2358_2387del (p.Asp786_Glu795del)
c.2295_2324del (p.Asp765_Glu774del)
n.1329_1358del
c.2364_2393del (p.Asp788_Glu797del)
 dbSNP gnomAD v4
1g.6469136C>ACA338118458PLEKHG5c.2155G>T (p.Glu719Ter)
c.2329G>T (p.Glu777Ter)
c.2266G>T (p.Glu756Ter)
n.2631G>T
c.2362G>T (p.Glu788Ter)
c.2452G>T (p.Glu818Ter)
c.*2367G>T (n.*2367G>T)
n.226G>T
c.*1983G>T (n.*1983G>T)
c.28G>T (p.Glu10Ter)
c.2386G>T (p.Glu796Ter)
c.2323G>T (p.Glu775Ter)
n.1357G>T
c.2392G>T (p.Glu798Ter)
1g.6469136C=CA1147128742PLEKHG5c.2155G= (p.Glu719=)
c.2329G= (p.Glu777=)
c.2266G= (p.Glu756=)
n.2631G=
c.2362G= (p.Glu788=)
c.2452G= (p.Glu818=)
c.*2367G= (n.*2367G=)
n.226G=
c.*1983G= (n.*1983G=)
c.28G= (p.Glu10=)
c.2386G= (p.Glu796=)
c.2323G= (p.Glu775=)
n.1357G=
c.2392G= (p.Glu798=)
1g.6469136C>GCA561240PLEKHG5c.2155G>C (p.Glu719Gln)
c.2329G>C (p.Glu777Gln)
c.2266G>C (p.Glu756Gln)
n.2631G>C
c.2362G>C (p.Glu788Gln)
c.2452G>C (p.Glu818Gln)
c.*2367G>C (n.*2367G>C)
n.226G>C
c.*1983G>C (n.*1983G>C)
c.28G>C (p.Glu10Gln)
c.2386G>C (p.Glu796Gln)
c.2323G>C (p.Glu775Gln)
n.1357G>C
c.2392G>C (p.Glu798Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469136C>TCA338118471PLEKHG5c.2155G>A (p.Glu719Lys)
c.2329G>A (p.Glu777Lys)
c.2266G>A (p.Glu756Lys)
n.2631G>A
c.2362G>A (p.Glu788Lys)
c.2452G>A (p.Glu818Lys)
c.*2367G>A (n.*2367G>A)
n.226G>A
c.*1983G>A (n.*1983G>A)
c.28G>A (p.Glu10Lys)
c.2386G>A (p.Glu796Lys)
c.2323G>A (p.Glu775Lys)
n.1357G>A
c.2392G>A (p.Glu798Lys)
 dbSNP gnomAD v4
1g.6469137delCA338118475PLEKHG5c.2155del (p.Glu719ArgfsTer?)
c.2329del (p.Glu777ArgfsTer?)
c.2266del (p.Glu756ArgfsTer?)
n.2631del
c.2362del (p.Glu788ArgfsTer?)
c.2452del (p.Glu818ArgfsTer?)
c.*2367del (n.*2367del)
n.226del
c.*1983del (n.*1983del)
c.28del (p.Glu10ArgfsTer?)
c.2386del (p.Glu796ArgfsTer?)
c.2323del (p.Glu775ArgfsTer?)
n.1357del
c.2392del (p.Glu798ArgfsTer?)
1g.6469137C>ACA338118482PLEKHG5c.2154G>T (p.Glu718Asp)
c.2328G>T (p.Glu776Asp)
c.2265G>T (p.Glu755Asp)
n.2630G>T
c.2361G>T (p.Glu787Asp)
c.2451G>T (p.Glu817Asp)
c.*2366G>T (n.*2366G>T)
n.225G>T
c.*1982G>T (n.*1982G>T)
c.27G>T (p.Glu9Asp)
c.2385G>T (p.Glu795Asp)
c.2322G>T (p.Glu774Asp)
n.1356G>T
c.2391G>T (p.Glu797Asp)
 dbSNP
1g.6469137C=CA1151520444PLEKHG5c.2154G= (p.Glu718=)
c.2328G= (p.Glu776=)
c.2265G= (p.Glu755=)
n.2630G=
c.2361G= (p.Glu787=)
c.2451G= (p.Glu817=)
c.*2366G= (n.*2366G=)
n.225G=
c.*1982G= (n.*1982G=)
c.27G= (p.Glu9=)
c.2385G= (p.Glu795=)
c.2322G= (p.Glu774=)
n.1356G=
c.2391G= (p.Glu797=)
1g.6469137C>GCA338118486PLEKHG5c.2154G>C (p.Glu718Asp)
c.2328G>C (p.Glu776Asp)
c.2265G>C (p.Glu755Asp)
n.2630G>C
c.2361G>C (p.Glu787Asp)
c.2451G>C (p.Glu817Asp)
c.*2366G>C (n.*2366G>C)
n.225G>C
c.*1982G>C (n.*1982G>C)
c.27G>C (p.Glu9Asp)
c.2385G>C (p.Glu795Asp)
c.2322G>C (p.Glu774Asp)
n.1356G>C
c.2391G>C (p.Glu797Asp)
1g.6469137C>TCA416022297PLEKHG5c.2154G>A (p.Glu718=)
c.2328G>A (p.Glu776=)
c.2265G>A (p.Glu755=)
n.2630G>A
c.2361G>A (p.Glu787=)
c.2451G>A (p.Glu817=)
c.*2366G>A (n.*2366G>A)
n.225G>A
c.*1982G>A (n.*1982G>A)
c.27G>A (p.Glu9=)
c.2385G>A (p.Glu795=)
c.2322G>A (p.Glu774=)
n.1356G>A
c.2391G>A (p.Glu797=)
 ClinVar dbSNP gnomAD v4
1g.6469138_6469142delCA2740090576PLEKHG5c.2150_2154del (p.Glu717GlyfsTer?)
c.2324_2328del (p.Glu775GlyfsTer?)
c.2261_2265del (p.Glu754GlyfsTer?)
n.2626_2630del
c.2357_2361del (p.Glu786GlyfsTer?)
c.2447_2451del (p.Glu816GlyfsTer?)
c.*2362_*2366del (n.*2362_*2366del)
n.221_225del
c.*1978_*1982del (n.*1978_*1982del)
c.23_27del (p.Glu8GlyfsTer?)
c.2381_2385del (p.Glu794GlyfsTer?)
c.2318_2322del (p.Glu773GlyfsTer?)
n.1352_1356del
c.2387_2391del (p.Glu796GlyfsTer?)
 ClinVar
1g.6469138T>ACA338118489PLEKHG5c.2153A>T (p.Glu718Val)
c.2327A>T (p.Glu776Val)
c.2264A>T (p.Glu755Val)
n.2629A>T
c.2360A>T (p.Glu787Val)
c.2450A>T (p.Glu817Val)
c.*2365A>T (n.*2365A>T)
n.224A>T
c.*1981A>T (n.*1981A>T)
c.26A>T (p.Glu9Val)
c.2384A>T (p.Glu795Val)
c.2321A>T (p.Glu774Val)
n.1355A>T
c.2390A>T (p.Glu797Val)
1g.6469138T>CCA338118490PLEKHG5c.2153A>G (p.Glu718Gly)
c.2327A>G (p.Glu776Gly)
c.2264A>G (p.Glu755Gly)
n.2629A>G
c.2360A>G (p.Glu787Gly)
c.2450A>G (p.Glu817Gly)
c.*2365A>G (n.*2365A>G)
n.224A>G
c.*1981A>G (n.*1981A>G)
c.26A>G (p.Glu9Gly)
c.2384A>G (p.Glu795Gly)
c.2321A>G (p.Glu774Gly)
n.1355A>G
c.2390A>G (p.Glu797Gly)
1g.6469138T>GCA338118492PLEKHG5c.2153A>C (p.Glu718Ala)
c.2327A>C (p.Glu776Ala)
c.2264A>C (p.Glu755Ala)
n.2629A>C
c.2360A>C (p.Glu787Ala)
c.2450A>C (p.Glu817Ala)
c.*2365A>C (n.*2365A>C)
n.224A>C
c.*1981A>C (n.*1981A>C)
c.26A>C (p.Glu9Ala)
c.2384A>C (p.Glu795Ala)
c.2321A>C (p.Glu774Ala)
n.1355A>C
c.2390A>C (p.Glu797Ala)
1g.6469148_6469159dupCA658795383PLEKHG5c.2142_2153dup (p.Glu718_Glu719insGluGluGluGlu)
c.2316_2327dup (p.Glu776_Glu777insGluGluGluGlu)
c.2253_2264dup (p.Glu755_Glu756insGluGluGluGlu)
n.2618_2629dup
c.2349_2360dup (p.Glu787_Glu788insGluGluGluGlu)
c.2439_2450dup (p.Glu817_Glu818insGluGluGluGlu)
c.*2354_*2365dup (n.*2354_*2365dup)
n.213_224dup
c.*1970_*1981dup (n.*1970_*1981dup)
c.15_26dup (p.Glu9_Glu10insGluGluGluGlu)
c.2373_2384dup (p.Glu795_Glu796insGluGluGluGlu)
c.2310_2321dup (p.Glu774_Glu775insGluGluGluGlu)
n.1344_1355dup
c.2379_2390dup (p.Glu797_Glu798insGluGluGluGlu)
 ClinVar dbSNP
1g.6469148_6469159delCA2642975197PLEKHG5c.2142_2153del (p.Glu715_Glu718del)
c.2316_2327del (p.Glu773_Glu776del)
c.2253_2264del (p.Glu752_Glu755del)
n.2618_2629del
c.2349_2360del (p.Glu784_Glu787del)
c.2439_2450del (p.Glu814_Glu817del)
c.*2354_*2365del (n.*2354_*2365del)
n.213_224del
c.*1970_*1981del (n.*1970_*1981del)
c.15_26del (p.Glu6_Glu9del)
c.2373_2384del (p.Glu792_Glu795del)
c.2310_2321del (p.Glu771_Glu774del)
n.1344_1355del
c.2379_2390del (p.Glu794_Glu797del)
 gnomAD v4
1g.6469153_6469179dupCA916099452PLEKHG5c.2127_2153dup (p.Glu717_Glu718insAspGluGlnGluGluGluGluGluGlu)
c.2301_2327dup (p.Glu775_Glu776insAspGluGlnGluGluGluGluGluGlu)
c.2238_2264dup (p.Glu754_Glu755insAspGluGlnGluGluGluGluGluGlu)
n.2603_2629dup
c.2334_2360dup (p.Glu786_Glu787insAspGluGlnGluGluGluGluGluGlu)
c.2424_2450dup (p.Glu816_Glu817insAspGluGlnGluGluGluGluGluGlu)
c.*2339_*2365dup (n.*2339_*2365dup)
n.198_224dup
c.*1955_*1981dup (n.*1955_*1981dup)
c.2358_2384dup (p.Glu794_Glu795insAspGluGlnGluGluGluGluGluGlu)
c.2295_2321dup (p.Glu773_Glu774insAspGluGlnGluGluGluGluGluGlu)
n.1329_1355dup
c.2364_2390dup (p.Glu796_Glu797insAspGluGlnGluGluGluGluGluGlu)
 dbSNP gnomAD v4
1g.6469153_6469179delCA2592134378PLEKHG5c.2127_2153del (p.Asp709_Glu717del)
c.2301_2327del (p.Asp767_Glu775del)
c.2238_2264del (p.Asp746_Glu754del)
n.2603_2629del
c.2334_2360del (p.Asp778_Glu786del)
c.2424_2450del (p.Asp808_Glu816del)
c.*2339_*2365del (n.*2339_*2365del)
n.198_224del
c.*1955_*1981del (n.*1955_*1981del)
c.2358_2384del (p.Asp786_Glu794del)
c.2295_2321del (p.Asp765_Glu773del)
n.1329_1355del
c.2364_2390del (p.Asp788_Glu796del)
 gnomAD v3 gnomAD v4
1g.6469139C>ACA338118502PLEKHG5c.2152G>T (p.Glu718Ter)
c.2326G>T (p.Glu776Ter)
c.2263G>T (p.Glu755Ter)
n.2628G>T
c.2359G>T (p.Glu787Ter)
c.2449G>T (p.Glu817Ter)
c.*2364G>T (n.*2364G>T)
n.223G>T
c.*1980G>T (n.*1980G>T)
c.25G>T (p.Glu9Ter)
c.2383G>T (p.Glu795Ter)
c.2320G>T (p.Glu774Ter)
n.1354G>T
c.2389G>T (p.Glu797Ter)
1g.6469139C=CA1151520454PLEKHG5c.2152G= (p.Glu718=)
c.2326G= (p.Glu776=)
c.2263G= (p.Glu755=)
n.2628G=
c.2359G= (p.Glu787=)
c.2449G= (p.Glu817=)
c.*2364G= (n.*2364G=)
n.223G=
c.*1980G= (n.*1980G=)
c.25G= (p.Glu9=)
c.2383G= (p.Glu795=)
c.2320G= (p.Glu774=)
n.1354G=
c.2389G= (p.Glu797=)
1g.6469139C>GCA338118501PLEKHG5c.2152G>C (p.Glu718Gln)
c.2326G>C (p.Glu776Gln)
c.2263G>C (p.Glu755Gln)
n.2628G>C
c.2359G>C (p.Glu787Gln)
c.2449G>C (p.Glu817Gln)
c.*2364G>C (n.*2364G>C)
n.223G>C
c.*1980G>C (n.*1980G>C)
c.25G>C (p.Glu9Gln)
c.2383G>C (p.Glu795Gln)
c.2320G>C (p.Glu774Gln)
n.1354G>C
c.2389G>C (p.Glu797Gln)
1g.6469139C>TCA338118497PLEKHG5c.2152G>A (p.Glu718Lys)
c.2326G>A (p.Glu776Lys)
c.2263G>A (p.Glu755Lys)
n.2628G>A
c.2359G>A (p.Glu787Lys)
c.2449G>A (p.Glu817Lys)
c.*2364G>A (n.*2364G>A)
n.223G>A
c.*1980G>A (n.*1980G>A)
c.25G>A (p.Glu9Lys)
c.2383G>A (p.Glu795Lys)
c.2320G>A (p.Glu774Lys)
n.1354G>A
c.2389G>A (p.Glu797Lys)
 dbSNP gnomAD v4
1g.6469140C>ACA338118504PLEKHG5c.2151G>T (p.Glu717Asp)
c.2325G>T (p.Glu775Asp)
c.2262G>T (p.Glu754Asp)
n.2627G>T
c.2358G>T (p.Glu786Asp)
c.2448G>T (p.Glu816Asp)
c.*2363G>T (n.*2363G>T)
n.222G>T
c.*1979G>T (n.*1979G>T)
c.24G>T (p.Glu8Asp)
c.2382G>T (p.Glu794Asp)
c.2319G>T (p.Glu773Asp)
n.1353G>T
c.2388G>T (p.Glu796Asp)
1g.6469140C=CA1151520457PLEKHG5c.2151G= (p.Glu717=)
c.2325G= (p.Glu775=)
c.2262G= (p.Glu754=)
n.2627G=
c.2358G= (p.Glu786=)
c.2448G= (p.Glu816=)
c.*2363G= (n.*2363G=)
n.222G=
c.*1979G= (n.*1979G=)
c.24G= (p.Glu8=)
c.2382G= (p.Glu794=)
c.2319G= (p.Glu773=)
n.1353G=
c.2388G= (p.Glu796=)
1g.6469140C>GCA561241PLEKHG5c.2151G>C (p.Glu717Asp)
c.2325G>C (p.Glu775Asp)
c.2262G>C (p.Glu754Asp)
n.2627G>C
c.2358G>C (p.Glu786Asp)
c.2448G>C (p.Glu816Asp)
c.*2363G>C (n.*2363G>C)
n.222G>C
c.*1979G>C (n.*1979G>C)
c.24G>C (p.Glu8Asp)
c.2382G>C (p.Glu794Asp)
c.2319G>C (p.Glu773Asp)
n.1353G>C
c.2388G>C (p.Glu796Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6469140C>TCA416022300PLEKHG5c.2151G>A (p.Glu717=)
c.2325G>A (p.Glu775=)
c.2262G>A (p.Glu754=)
n.2627G>A
c.2358G>A (p.Glu786=)
c.2448G>A (p.Glu816=)
c.*2363G>A (n.*2363G>A)
n.222G>A
c.*1979G>A (n.*1979G>A)
c.24G>A (p.Glu8=)
c.2382G>A (p.Glu794=)
c.2319G>A (p.Glu773=)
n.1353G>A
c.2388G>A (p.Glu796=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469140_6469149delinsCTCCTCCTCTCA1151520459PLEKHG5c.2142_2151delinsAGAGGAGGAG (p.Glu714=)
c.2316_2325delinsAGAGGAGGAG (p.Glu772=)
c.2253_2262delinsAGAGGAGGAG (p.Glu751=)
n.2618_2627delinsAGAGGAGGAG
c.2349_2358delinsAGAGGAGGAG (p.Glu783=)
c.2439_2448delinsAGAGGAGGAG (p.Glu813=)
c.*2354_*2363delinsAGAGGAGGAG (n.*2354_*2363delinsAGAGGAGGAG)
n.213_222delinsAGAGGAGGAG
c.*1970_*1979delinsAGAGGAGGAG (n.*1970_*1979delinsAGAGGAGGAG)
c.15_24delinsAGAGGAGGAG (p.Glu5=)
c.2373_2382delinsAGAGGAGGAG (p.Glu791=)
c.2310_2319delinsAGAGGAGGAG (p.Glu770=)
n.1344_1353delinsAGAGGAGGAG
c.2379_2388delinsAGAGGAGGAG (p.Glu793=)
1g.6469141T>ACA338118509PLEKHG5c.2150A>T (p.Glu717Val)
c.2324A>T (p.Glu775Val)
c.2261A>T (p.Glu754Val)
n.2626A>T
c.2357A>T (p.Glu786Val)
c.2447A>T (p.Glu816Val)
c.*2362A>T (n.*2362A>T)
n.221A>T
c.*1978A>T (n.*1978A>T)
c.23A>T (p.Glu8Val)
c.2381A>T (p.Glu794Val)
c.2318A>T (p.Glu773Val)
n.1352A>T
c.2387A>T (p.Glu796Val)
1g.6469141T>CCA338118511PLEKHG5c.2150A>G (p.Glu717Gly)
c.2324A>G (p.Glu775Gly)
c.2261A>G (p.Glu754Gly)
n.2626A>G
c.2357A>G (p.Glu786Gly)
c.2447A>G (p.Glu816Gly)
c.*2362A>G (n.*2362A>G)
n.221A>G
c.*1978A>G (n.*1978A>G)
c.23A>G (p.Glu8Gly)
c.2381A>G (p.Glu794Gly)
c.2318A>G (p.Glu773Gly)
n.1352A>G
c.2387A>G (p.Glu796Gly)
1g.6469141T>GCA338118515PLEKHG5c.2150A>C (p.Glu717Ala)
c.2324A>C (p.Glu775Ala)
c.2261A>C (p.Glu754Ala)
n.2626A>C
c.2357A>C (p.Glu786Ala)
c.2447A>C (p.Glu816Ala)
c.*2362A>C (n.*2362A>C)
n.221A>C
c.*1978A>C (n.*1978A>C)
c.23A>C (p.Glu8Ala)
c.2381A>C (p.Glu794Ala)
c.2318A>C (p.Glu773Ala)
n.1352A>C
c.2387A>C (p.Glu796Ala)
1g.6469141_6469142delinsTCCA1151520464PLEKHG5c.2149_2150delinsGA (p.Glu717=)
c.2323_2324delinsGA (p.Glu775=)
c.2260_2261delinsGA (p.Glu754=)
n.2625_2626delinsGA
c.2356_2357delinsGA (p.Glu786=)
c.2446_2447delinsGA (p.Glu816=)
c.*2361_*2362delinsGA (n.*2361_*2362delinsGA)
n.220_221delinsGA
c.*1977_*1978delinsGA (n.*1977_*1978delinsGA)
c.22_23delinsGA (p.Glu8=)
c.2380_2381delinsGA (p.Glu794=)
c.2317_2318delinsGA (p.Glu773=)
n.1351_1352delinsGA
c.2386_2387delinsGA (p.Glu796=)
1g.6469142_6469143insTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCA2642975213PLEKHG5c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluGlu)
c.2324_2325insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu775_Glu776insGluGluGluAspGluGlnGluGluGluGlu)
c.2261_2262insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu754_Glu755insGluGluGluAspGluGlnGluGluGluGlu)
n.2626_2627insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
c.2357_2358insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu786_Glu787insGluGluGluAspGluGlnGluGluGluGlu)
c.2447_2448insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu816_Glu817insGluGluGluAspGluGlnGluGluGluGlu)
c.*2362_*2363insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (n.*2362_*2363insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA)
n.221_222insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
c.*1978_*1979insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (n.*1978_*1979insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA)
c.23_24insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu8_Glu9insGluGluGluAspGluGlnGluGluGluGlu)
c.2381_2382insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu794_Glu795insGluGluGluAspGluGlnGluGluGluGlu)
c.2318_2319insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu773_Glu774insGluGluGluAspGluGlnGluGluGluGlu)
n.1352_1353insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
c.2387_2388insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA (p.Glu796_Glu797insGluGluGluAspGluGlnGluGluGluGlu)
 gnomAD v4
1g.6469149_6469157delCA737847635PLEKHG5c.2142_2150del (p.Glu715_Glu717del)
c.2316_2324del (p.Glu773_Glu775del)
c.2253_2261del (p.Glu752_Glu754del)
n.2618_2626del
c.2349_2357del (p.Glu784_Glu786del)
c.2439_2447del (p.Glu814_Glu816del)
c.*2354_*2362del (n.*2354_*2362del)
n.213_221del
c.*1970_*1978del (n.*1970_*1978del)
c.15_23del (p.Glu6_Glu8del)
c.2373_2381del (p.Glu792_Glu794del)
c.2310_2318del (p.Glu771_Glu773del)
n.1344_1352del
c.2379_2387del (p.Glu794_Glu796del)
 dbSNP gnomAD v4
1g.6469142C>ACA338118522PLEKHG5c.2149G>T (p.Glu717Ter)
c.2323G>T (p.Glu775Ter)
c.2260G>T (p.Glu754Ter)
n.2625G>T
c.2356G>T (p.Glu786Ter)
c.2446G>T (p.Glu816Ter)
c.*2361G>T (n.*2361G>T)
n.220G>T
c.*1977G>T (n.*1977G>T)
c.22G>T (p.Glu8Ter)
c.2380G>T (p.Glu794Ter)
c.2317G>T (p.Glu773Ter)
n.1351G>T
c.2386G>T (p.Glu796Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469142C=CA1142684335PLEKHG5c.2149G= (p.Glu717=)
c.2323G= (p.Glu775=)
c.2260G= (p.Glu754=)
n.2625G=
c.2356G= (p.Glu786=)
c.2446G= (p.Glu816=)
c.*2361G= (n.*2361G=)
n.220G=
c.*1977G= (n.*1977G=)
c.22G= (p.Glu8=)
c.2380G= (p.Glu794=)
c.2317G= (p.Glu773=)
n.1351G=
c.2386G= (p.Glu796=)
1g.6469142C>GCA338118540PLEKHG5c.2149G>C (p.Glu717Gln)
c.2323G>C (p.Glu775Gln)
c.2260G>C (p.Glu754Gln)
n.2625G>C
c.2356G>C (p.Glu786Gln)
c.2446G>C (p.Glu816Gln)
c.*2361G>C (n.*2361G>C)
n.220G>C
c.*1977G>C (n.*1977G>C)
c.22G>C (p.Glu8Gln)
c.2380G>C (p.Glu794Gln)
c.2317G>C (p.Glu773Gln)
n.1351G>C
c.2386G>C (p.Glu796Gln)
1g.6469142C>TCA561242PLEKHG5c.2149G>A (p.Glu717Lys)
c.2323G>A (p.Glu775Lys)
c.2260G>A (p.Glu754Lys)
n.2625G>A
c.2356G>A (p.Glu786Lys)
c.2446G>A (p.Glu816Lys)
c.*2361G>A (n.*2361G>A)
n.220G>A
c.*1977G>A (n.*1977G>A)
c.22G>A (p.Glu8Lys)
c.2380G>A (p.Glu794Lys)
c.2317G>A (p.Glu773Lys)
n.1351G>A
c.2386G>A (p.Glu796Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469143delCA916099461PLEKHG5c.2149del (p.Glu717ArgfsTer?)
c.2323del (p.Glu775ArgfsTer?)
c.2260del (p.Glu754ArgfsTer?)
n.2625del
c.2356del (p.Glu786ArgfsTer?)
c.2446del (p.Glu816ArgfsTer?)
c.*2361del (n.*2361del)
n.220del
c.*1977del (n.*1977del)
c.22del (p.Glu8ArgfsTer?)
c.2380del (p.Glu794ArgfsTer?)
c.2317del (p.Glu773ArgfsTer?)
n.1351del
c.2386del (p.Glu796ArgfsTer?)
 dbSNP
1g.6469143C>ACA338118558PLEKHG5c.2148G>T (p.Glu716Asp)
c.2322G>T (p.Glu774Asp)
c.2259G>T (p.Glu753Asp)
n.2624G>T
c.2355G>T (p.Glu785Asp)
c.2445G>T (p.Glu815Asp)
c.*2360G>T (n.*2360G>T)
n.219G>T
c.*1976G>T (n.*1976G>T)
c.21G>T (p.Glu7Asp)
c.2379G>T (p.Glu793Asp)
c.2316G>T (p.Glu772Asp)
n.1350G>T
c.2385G>T (p.Glu795Asp)
1g.6469143C=CA1151520489PLEKHG5c.2148G= (p.Glu716=)
c.2322G= (p.Glu774=)
c.2259G= (p.Glu753=)
n.2624G=
c.2355G= (p.Glu785=)
c.2445G= (p.Glu815=)
c.*2360G= (n.*2360G=)
n.219G=
c.*1976G= (n.*1976G=)
c.21G= (p.Glu7=)
c.2379G= (p.Glu793=)
c.2316G= (p.Glu772=)
n.1350G=
c.2385G= (p.Glu795=)
1g.6469143C>GCA338118561PLEKHG5c.2148G>C (p.Glu716Asp)
c.2322G>C (p.Glu774Asp)
c.2259G>C (p.Glu753Asp)
n.2624G>C
c.2355G>C (p.Glu785Asp)
c.2445G>C (p.Glu815Asp)
c.*2360G>C (n.*2360G>C)
n.219G>C
c.*1976G>C (n.*1976G>C)
c.21G>C (p.Glu7Asp)
c.2379G>C (p.Glu793Asp)
c.2316G>C (p.Glu772Asp)
n.1350G>C
c.2385G>C (p.Glu795Asp)
1g.6469143C>TCA416022311PLEKHG5c.2148G>A (p.Glu716=)
c.2322G>A (p.Glu774=)
c.2259G>A (p.Glu753=)
n.2624G>A
c.2355G>A (p.Glu785=)
c.2445G>A (p.Glu815=)
c.*2360G>A (n.*2360G>A)
n.219G>A
c.*1976G>A (n.*1976G>A)
c.21G>A (p.Glu7=)
c.2379G>A (p.Glu793=)
c.2316G>A (p.Glu772=)
n.1350G>A
c.2385G>A (p.Glu795=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
1g.6469143_6469149delinsCTCCTCTCA1151520487PLEKHG5c.2142_2148delinsAGAGGAG (p.Glu714=)
c.2316_2322delinsAGAGGAG (p.Glu772=)
c.2253_2259delinsAGAGGAG (p.Glu751=)
n.2618_2624delinsAGAGGAG
c.2349_2355delinsAGAGGAG (p.Glu783=)
c.2439_2445delinsAGAGGAG (p.Glu813=)
c.*2354_*2360delinsAGAGGAG (n.*2354_*2360delinsAGAGGAG)
n.213_219delinsAGAGGAG
c.*1970_*1976delinsAGAGGAG (n.*1970_*1976delinsAGAGGAG)
c.15_21delinsAGAGGAG (p.Glu5=)
c.2373_2379delinsAGAGGAG (p.Glu791=)
c.2310_2316delinsAGAGGAG (p.Glu770=)
n.1344_1350delinsAGAGGAG
c.2379_2385delinsAGAGGAG (p.Glu793=)
1g.6469145_6469149dupCA916099463PLEKHG5c.2144_2148dup (p.Glu717ArgfsTer?)
c.2318_2322dup (p.Glu775ArgfsTer?)
c.2255_2259dup (p.Glu754ArgfsTer?)
n.2620_2624dup
c.2351_2355dup (p.Glu786ArgfsTer?)
c.2441_2445dup (p.Glu816ArgfsTer?)
c.*2356_*2360dup (n.*2356_*2360dup)
n.215_219dup
c.*1972_*1976dup (n.*1972_*1976dup)
c.17_21dup (p.Glu8ArgfsTer?)
c.2375_2379dup (p.Glu794ArgfsTer?)
c.2312_2316dup (p.Glu773ArgfsTer?)
n.1346_1350dup
c.2381_2385dup (p.Glu796ArgfsTer?)
 dbSNP
1g.6469144T>ACA338118567PLEKHG5c.2147A>T (p.Glu716Val)
c.2321A>T (p.Glu774Val)
c.2258A>T (p.Glu753Val)
n.2623A>T
c.2354A>T (p.Glu785Val)
c.2444A>T (p.Glu815Val)
c.*2359A>T (n.*2359A>T)
n.218A>T
c.*1975A>T (n.*1975A>T)
c.20A>T (p.Glu7Val)
c.2378A>T (p.Glu793Val)
c.2315A>T (p.Glu772Val)
n.1349A>T
c.2384A>T (p.Glu795Val)
1g.6469144T>CCA338118574PLEKHG5c.2147A>G (p.Glu716Gly)
c.2321A>G (p.Glu774Gly)
c.2258A>G (p.Glu753Gly)
n.2623A>G
c.2354A>G (p.Glu785Gly)
c.2444A>G (p.Glu815Gly)
c.*2359A>G (n.*2359A>G)
n.218A>G
c.*1975A>G (n.*1975A>G)
c.20A>G (p.Glu7Gly)
c.2378A>G (p.Glu793Gly)
c.2315A>G (p.Glu772Gly)
n.1349A>G
c.2384A>G (p.Glu795Gly)
 gnomAD v4
1g.6469144T>GCA338118575PLEKHG5c.2147A>C (p.Glu716Ala)
c.2321A>C (p.Glu774Ala)
c.2258A>C (p.Glu753Ala)
n.2623A>C
c.2354A>C (p.Glu785Ala)
c.2444A>C (p.Glu815Ala)
c.*2359A>C (n.*2359A>C)
n.218A>C
c.*1975A>C (n.*1975A>C)
c.20A>C (p.Glu7Ala)
c.2378A>C (p.Glu793Ala)
c.2315A>C (p.Glu772Ala)
n.1349A>C
c.2384A>C (p.Glu795Ala)
1g.6469144_6469145delinsTCCA1151520499PLEKHG5c.2146_2147delinsGA (p.Glu716=)
c.2320_2321delinsGA (p.Glu774=)
c.2257_2258delinsGA (p.Glu753=)
n.2622_2623delinsGA
c.2353_2354delinsGA (p.Glu785=)
c.2443_2444delinsGA (p.Glu815=)
c.*2358_*2359delinsGA (n.*2358_*2359delinsGA)
n.217_218delinsGA
c.*1974_*1975delinsGA (n.*1974_*1975delinsGA)
c.19_20delinsGA (p.Glu7=)
c.2377_2378delinsGA (p.Glu793=)
c.2314_2315delinsGA (p.Glu772=)
n.1348_1349delinsGA
c.2383_2384delinsGA (p.Glu795=)
1g.6469145_6469146insTTCCA521018691PLEKHG5c.2147_2148insAGA (p.Glu716_Glu717insGlu)
c.2321_2322insAGA (p.Glu774_Glu775insGlu)
c.2258_2259insAGA (p.Glu753_Glu754insGlu)
n.2623_2624insAGA
c.2354_2355insAGA (p.Glu785_Glu786insGlu)
c.2444_2445insAGA (p.Glu815_Glu816insGlu)
c.*2359_*2360insAGA (n.*2359_*2360insAGA)
n.218_219insAGA
c.*1975_*1976insAGA (n.*1975_*1976insAGA)
c.20_21insAGA (p.Glu7_Glu8insGlu)
c.2378_2379insAGA (p.Glu793_Glu794insGlu)
c.2315_2316insAGA (p.Glu772_Glu773insGlu)
n.1349_1350insAGA
c.2384_2385insAGA (p.Glu795_Glu796insGlu)
 dbSNP gnomAD v2 gnomAD v4
1g.6469149_6469154delCA737847641PLEKHG5c.2142_2147del (p.Glu715_Glu716del)
c.2316_2321del (p.Glu773_Glu774del)
c.2253_2258del (p.Glu752_Glu753del)
n.2618_2623del
c.2349_2354del (p.Glu784_Glu785del)
c.2439_2444del (p.Glu814_Glu815del)
c.*2354_*2359del (n.*2354_*2359del)
n.213_218del
c.*1970_*1975del (n.*1970_*1975del)
c.15_20del (p.Glu6_Glu7del)
c.2373_2378del (p.Glu792_Glu793del)
c.2310_2315del (p.Glu771_Glu772del)
n.1344_1349del
c.2379_2384del (p.Glu794_Glu795del)
 dbSNP gnomAD v3 gnomAD v4
1g.6469145C>ACA338118576PLEKHG5c.2146G>T (p.Glu716Ter)
c.2320G>T (p.Glu774Ter)
c.2257G>T (p.Glu753Ter)
n.2622G>T
c.2353G>T (p.Glu785Ter)
c.2443G>T (p.Glu815Ter)
c.*2358G>T (n.*2358G>T)
n.217G>T
c.*1974G>T (n.*1974G>T)
c.19G>T (p.Glu7Ter)
c.2377G>T (p.Glu793Ter)
c.2314G>T (p.Glu772Ter)
n.1348G>T
c.2383G>T (p.Glu795Ter)
 ClinVar gnomAD v4
1g.6469145C=CA1151520502PLEKHG5c.2146G= (p.Glu716=)
c.2320G= (p.Glu774=)
c.2257G= (p.Glu753=)
n.2622G=
c.2353G= (p.Glu785=)
c.2443G= (p.Glu815=)
c.*2358G= (n.*2358G=)
n.217G=
c.*1974G= (n.*1974G=)
c.19G= (p.Glu7=)
c.2377G= (p.Glu793=)
c.2314G= (p.Glu772=)
n.1348G=
c.2383G= (p.Glu795=)
1g.6469145C>GCA338118578PLEKHG5c.2146G>C (p.Glu716Gln)
c.2320G>C (p.Glu774Gln)
c.2257G>C (p.Glu753Gln)
n.2622G>C
c.2353G>C (p.Glu785Gln)
c.2443G>C (p.Glu815Gln)
c.*2358G>C (n.*2358G>C)
n.217G>C
c.*1974G>C (n.*1974G>C)
c.19G>C (p.Glu7Gln)
c.2377G>C (p.Glu793Gln)
c.2314G>C (p.Glu772Gln)
n.1348G>C
c.2383G>C (p.Glu795Gln)
 dbSNP
1g.6469145C>TCA338118580PLEKHG5c.2146G>A (p.Glu716Lys)
c.2320G>A (p.Glu774Lys)
c.2257G>A (p.Glu753Lys)
n.2622G>A
c.2353G>A (p.Glu785Lys)
c.2443G>A (p.Glu815Lys)
c.*2358G>A (n.*2358G>A)
n.217G>A
c.*1974G>A (n.*1974G>A)
c.19G>A (p.Glu7Lys)
c.2377G>A (p.Glu793Lys)
c.2314G>A (p.Glu772Lys)
n.1348G>A
c.2383G>A (p.Glu795Lys)
 dbSNP
1g.6469146delCA916099467PLEKHG5c.2146del (p.Glu716ArgfsTer?)
c.2320del (p.Glu774ArgfsTer?)
c.2257del (p.Glu753ArgfsTer?)
n.2622del
c.2353del (p.Glu785ArgfsTer?)
c.2443del (p.Glu815ArgfsTer?)
c.*2358del (n.*2358del)
n.217del
c.*1974del (n.*1974del)
c.19del (p.Glu7ArgfsTer?)
c.2377del (p.Glu793ArgfsTer?)
c.2314del (p.Glu772ArgfsTer?)
n.1348del
c.2383del (p.Glu795ArgfsTer?)
 dbSNP
1g.6469145_6469146insTTCCTCCTCCTGCA2642975243PLEKHG5c.2145_2146insCAGGAGGAGGAA (p.Glu715_Glu716insGlnGluGluGlu)
c.2319_2320insCAGGAGGAGGAA (p.Glu773_Glu774insGlnGluGluGlu)
c.2256_2257insCAGGAGGAGGAA (p.Glu752_Glu753insGlnGluGluGlu)
n.2621_2622insCAGGAGGAGGAA
c.2352_2353insCAGGAGGAGGAA (p.Glu784_Glu785insGlnGluGluGlu)
c.2442_2443insCAGGAGGAGGAA (p.Glu814_Glu815insGlnGluGluGlu)
c.*2357_*2358insCAGGAGGAGGAA (n.*2357_*2358insCAGGAGGAGGAA)
n.216_217insCAGGAGGAGGAA
c.*1973_*1974insCAGGAGGAGGAA (n.*1973_*1974insCAGGAGGAGGAA)
c.18_19insCAGGAGGAGGAA (p.Glu6_Glu7insGlnGluGluGlu)
c.2376_2377insCAGGAGGAGGAA (p.Glu792_Glu793insGlnGluGluGlu)
c.2313_2314insCAGGAGGAGGAA (p.Glu771_Glu772insGlnGluGluGlu)
n.1347_1348insCAGGAGGAGGAA
c.2382_2383insCAGGAGGAGGAA (p.Glu794_Glu795insGlnGluGluGlu)
 gnomAD v4
1g.6469146C>ACA338118583PLEKHG5c.2145G>T (p.Glu715Asp)
c.2319G>T (p.Glu773Asp)
c.2256G>T (p.Glu752Asp)
n.2621G>T
c.2352G>T (p.Glu784Asp)
c.2442G>T (p.Glu814Asp)
c.*2357G>T (n.*2357G>T)
n.216G>T
c.*1973G>T (n.*1973G>T)
c.18G>T (p.Glu6Asp)
c.2376G>T (p.Glu792Asp)
c.2313G>T (p.Glu771Asp)
n.1347G>T
c.2382G>T (p.Glu794Asp)
1g.6469146C=CA1151520512PLEKHG5c.2145G= (p.Glu715=)
c.2319G= (p.Glu773=)
c.2256G= (p.Glu752=)
n.2621G=
c.2352G= (p.Glu784=)
c.2442G= (p.Glu814=)
c.*2357G= (n.*2357G=)
n.216G=
c.*1973G= (n.*1973G=)
c.18G= (p.Glu6=)
c.2376G= (p.Glu792=)
c.2313G= (p.Glu771=)
n.1347G=
c.2382G= (p.Glu794=)
1g.6469146C>GCA338118585PLEKHG5c.2145G>C (p.Glu715Asp)
c.2319G>C (p.Glu773Asp)
c.2256G>C (p.Glu752Asp)
n.2621G>C
c.2352G>C (p.Glu784Asp)
c.2442G>C (p.Glu814Asp)
c.*2357G>C (n.*2357G>C)
n.216G>C
c.*1973G>C (n.*1973G>C)
c.18G>C (p.Glu6Asp)
c.2376G>C (p.Glu792Asp)
c.2313G>C (p.Glu771Asp)
n.1347G>C
c.2382G>C (p.Glu794Asp)
1g.6469146C>TCA416022333PLEKHG5c.2145G>A (p.Glu715=)
c.2319G>A (p.Glu773=)
c.2256G>A (p.Glu752=)
n.2621G>A
c.2352G>A (p.Glu784=)
c.2442G>A (p.Glu814=)
c.*2357G>A (n.*2357G>A)
n.216G>A
c.*1973G>A (n.*1973G>A)
c.18G>A (p.Glu6=)
c.2376G>A (p.Glu792=)
c.2313G>A (p.Glu771=)
n.1347G>A
c.2382G>A (p.Glu794=)
 dbSNP gnomAD v2 gnomAD v4
1g.6469146_6469149delinsCTCTCA1151520534PLEKHG5c.2142_2145delinsAGAG (p.Glu714=)
c.2316_2319delinsAGAG (p.Glu772=)
c.2253_2256delinsAGAG (p.Glu751=)
n.2618_2621delinsAGAG
c.2349_2352delinsAGAG (p.Glu783=)
c.2439_2442delinsAGAG (p.Glu813=)
c.*2354_*2357delinsAGAG (n.*2354_*2357delinsAGAG)
n.213_216delinsAGAG
c.*1970_*1973delinsAGAG (n.*1970_*1973delinsAGAG)
c.15_18delinsAGAG (p.Glu5=)
c.2373_2376delinsAGAG (p.Glu791=)
c.2310_2313delinsAGAG (p.Glu770=)
n.1344_1347delinsAGAG
c.2379_2382delinsAGAG (p.Glu793=)
1g.6469148_6469149dupCA916099468PLEKHG5c.2144_2145dup (p.Glu716ArgfsTer?)
c.2318_2319dup (p.Glu774ArgfsTer?)
c.2255_2256dup (p.Glu753ArgfsTer?)
n.2620_2621dup
c.2351_2352dup (p.Glu785ArgfsTer?)
c.2441_2442dup (p.Glu815ArgfsTer?)
c.*2356_*2357dup (n.*2356_*2357dup)
n.215_216dup
c.*1972_*1973dup (n.*1972_*1973dup)
c.17_18dup (p.Glu7ArgfsTer?)
c.2375_2376dup (p.Glu793ArgfsTer?)
c.2312_2313dup (p.Glu772ArgfsTer?)
n.1346_1347dup
c.2381_2382dup (p.Glu795ArgfsTer?)
 dbSNP
1g.6469147T>ACA338118587PLEKHG5c.2144A>T (p.Glu715Val)
c.2318A>T (p.Glu773Val)
c.2255A>T (p.Glu752Val)
n.2620A>T
c.2351A>T (p.Glu784Val)
c.2441A>T (p.Glu814Val)
c.*2356A>T (n.*2356A>T)
n.215A>T
c.*1972A>T (n.*1972A>T)
c.17A>T (p.Glu6Val)
c.2375A>T (p.Glu792Val)
c.2312A>T (p.Glu771Val)
n.1346A>T
c.2381A>T (p.Glu794Val)
1g.6469147T>CCA338118591PLEKHG5c.2144A>G (p.Glu715Gly)
c.2318A>G (p.Glu773Gly)
c.2255A>G (p.Glu752Gly)
n.2620A>G
c.2351A>G (p.Glu784Gly)
c.2441A>G (p.Glu814Gly)
c.*2356A>G (n.*2356A>G)
n.215A>G
c.*1972A>G (n.*1972A>G)
c.17A>G (p.Glu6Gly)
c.2375A>G (p.Glu792Gly)
c.2312A>G (p.Glu771Gly)
n.1346A>G
c.2381A>G (p.Glu794Gly)
1g.6469147T>GCA338118594PLEKHG5c.2144A>C (p.Glu715Ala)
c.2318A>C (p.Glu773Ala)
c.2255A>C (p.Glu752Ala)
n.2620A>C
c.2351A>C (p.Glu784Ala)
c.2441A>C (p.Glu814Ala)
c.*2356A>C (n.*2356A>C)
n.215A>C
c.*1972A>C (n.*1972A>C)
c.17A>C (p.Glu6Ala)
c.2375A>C (p.Glu792Ala)
c.2312A>C (p.Glu771Ala)
n.1346A>C
c.2381A>C (p.Glu794Ala)
1g.6469149_6469151delCA561243PLEKHG5c.2142_2144del (p.Glu715del)
c.2316_2318del (p.Glu773del)
c.2253_2255del (p.Glu752del)
n.2618_2620del
c.2349_2351del (p.Glu784del)
c.2439_2441del (p.Glu814del)
c.*2354_*2356del (n.*2354_*2356del)
n.213_215del
c.*1970_*1972del (n.*1970_*1972del)
c.15_17del (p.Glu6del)
c.2373_2375del (p.Glu792del)
c.2310_2312del (p.Glu771del)
n.1344_1346del
c.2379_2381del (p.Glu794del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6469148C>ACA338118598PLEKHG5c.2143G>T (p.Glu715Ter)
c.2317G>T (p.Glu773Ter)
c.2254G>T (p.Glu752Ter)
n.2619G>T
c.2350G>T (p.Glu784Ter)
c.2440G>T (p.Glu814Ter)
c.*2355G>T (n.*2355G>T)
n.214G>T
c.*1971G>T (n.*1971G>T)
c.16G>T (p.Glu6Ter)
c.2374G>T (p.Glu792Ter)
c.2311G>T (p.Glu771Ter)
n.1345G>T
c.2380G>T (p.Glu794Ter)
1g.6469148C=CA1151520541PLEKHG5c.2143G= (p.Glu715=)
c.2317G= (p.Glu773=)
c.2254G= (p.Glu752=)
n.2619G=
c.2350G= (p.Glu784=)
c.2440G= (p.Glu814=)
c.*2355G= (n.*2355G=)
n.214G=
c.*1971G= (n.*1971G=)
c.16G= (p.Glu6=)
c.2374G= (p.Glu792=)
c.2311G= (p.Glu771=)
n.1345G=
c.2380G= (p.Glu794=)
1g.6469148C>GCA338118599PLEKHG5c.2143G>C (p.Glu715Gln)
c.2317G>C (p.Glu773Gln)
c.2254G>C (p.Glu752Gln)
n.2619G>C
c.2350G>C (p.Glu784Gln)
c.2440G>C (p.Glu814Gln)
c.*2355G>C (n.*2355G>C)
n.214G>C
c.*1971G>C (n.*1971G>C)
c.16G>C (p.Glu6Gln)
c.2374G>C (p.Glu792Gln)
c.2311G>C (p.Glu771Gln)
n.1345G>C
c.2380G>C (p.Glu794Gln)
1g.6469148C>TCA338118600PLEKHG5c.2143G>A (p.Glu715Lys)
c.2317G>A (p.Glu773Lys)
c.2254G>A (p.Glu752Lys)
n.2619G>A
c.2350G>A (p.Glu784Lys)
c.2440G>A (p.Glu814Lys)
c.*2355G>A (n.*2355G>A)
n.214G>A
c.*1971G>A (n.*1971G>A)
c.16G>A (p.Glu6Lys)
c.2374G>A (p.Glu792Lys)
c.2311G>A (p.Glu771Lys)
n.1345G>A
c.2380G>A (p.Glu794Lys)
 dbSNP gnomAD v2
1g.6469149T>ACA338118604PLEKHG5c.2142A>T (p.Glu714Asp)
c.2316A>T (p.Glu772Asp)
c.2253A>T (p.Glu751Asp)
n.2618A>T
c.2349A>T (p.Glu783Asp)
c.2439A>T (p.Glu813Asp)
c.*2354A>T (n.*2354A>T)
n.213A>T
c.*1970A>T (n.*1970A>T)
c.15A>T (p.Glu5Asp)
c.2373A>T (p.Glu791Asp)
c.2310A>T (p.Glu770Asp)
n.1344A>T
c.2379A>T (p.Glu793Asp)
 dbSNP gnomAD v4
1g.6469149T>CCA561244PLEKHG5c.2142A>G (p.Glu714=)
c.2316A>G (p.Glu772=)
c.2253A>G (p.Glu751=)
n.2618A>G
c.2349A>G (p.Glu783=)
c.2439A>G (p.Glu813=)
c.*2354A>G (n.*2354A>G)
n.213A>G
c.*1970A>G (n.*1970A>G)
c.15A>G (p.Glu5=)
c.2373A>G (p.Glu791=)
c.2310A>G (p.Glu770=)
n.1344A>G
c.2379A>G (p.Glu793=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469149T>GCA338118609PLEKHG5c.2142A>C (p.Glu714Asp)
c.2316A>C (p.Glu772Asp)
c.2253A>C (p.Glu751Asp)
n.2618A>C
c.2349A>C (p.Glu783Asp)
c.2439A>C (p.Glu813Asp)
c.*2354A>C (n.*2354A>C)
n.213A>C
c.*1970A>C (n.*1970A>C)
c.15A>C (p.Glu5Asp)
c.2373A>C (p.Glu791Asp)
c.2310A>C (p.Glu770Asp)
n.1344A>C
c.2379A>C (p.Glu793Asp)
1g.6469149T=CA1151520547PLEKHG5c.2142A= (p.Glu714=)
c.2316A= (p.Glu772=)
c.2253A= (p.Glu751=)
n.2618A=
c.2349A= (p.Glu783=)
c.2439A= (p.Glu813=)
c.*2354A= (n.*2354A=)
n.213A=
c.*1970A= (n.*1970A=)
c.15A= (p.Glu5=)
c.2373A= (p.Glu791=)
c.2310A= (p.Glu770=)
n.1344A=
c.2379A= (p.Glu793=)
1g.6469149_6469150insGCTCACA2642975259PLEKHG5c.2141_2142insTGAGC (p.Glu714AspfsTer?)
c.2315_2316insTGAGC (p.Glu772AspfsTer?)
c.2252_2253insTGAGC (p.Glu751AspfsTer?)
n.2617_2618insTGAGC
c.2348_2349insTGAGC (p.Glu783AspfsTer?)
c.2438_2439insTGAGC (p.Glu813AspfsTer?)
c.*2353_*2354insTGAGC (n.*2353_*2354insTGAGC)
n.212_213insTGAGC
c.*1969_*1970insTGAGC (n.*1969_*1970insTGAGC)
c.14_15insTGAGC (p.Glu5AspfsTer?)
c.2372_2373insTGAGC (p.Glu791AspfsTer?)
c.2309_2310insTGAGC (p.Glu770AspfsTer?)
n.1343_1344insTGAGC
c.2378_2379insTGAGC (p.Glu793AspfsTer?)
 gnomAD v4
1g.6469150T>ACA338118614PLEKHG5c.2141A>T (p.Glu714Val)
c.2315A>T (p.Glu772Val)
c.2252A>T (p.Glu751Val)
n.2617A>T
c.2348A>T (p.Glu783Val)
c.2438A>T (p.Glu813Val)
c.*2353A>T (n.*2353A>T)
n.212A>T
c.*1969A>T (n.*1969A>T)
c.14A>T (p.Glu5Val)
c.2372A>T (p.Glu791Val)
c.2309A>T (p.Glu770Val)
n.1343A>T
c.2378A>T (p.Glu793Val)
1g.6469150T>CCA338118621PLEKHG5c.2141A>G (p.Glu714Gly)
c.2315A>G (p.Glu772Gly)
c.2252A>G (p.Glu751Gly)
n.2617A>G
c.2348A>G (p.Glu783Gly)
c.2438A>G (p.Glu813Gly)
c.*2353A>G (n.*2353A>G)
n.212A>G
c.*1969A>G (n.*1969A>G)
c.14A>G (p.Glu5Gly)
c.2372A>G (p.Glu791Gly)
c.2309A>G (p.Glu770Gly)
n.1343A>G
c.2378A>G (p.Glu793Gly)
1g.6469150T>GCA338118624PLEKHG5c.2141A>C (p.Glu714Ala)
c.2315A>C (p.Glu772Ala)
c.2252A>C (p.Glu751Ala)
n.2617A>C
c.2348A>C (p.Glu783Ala)
c.2438A>C (p.Glu813Ala)
c.*2353A>C (n.*2353A>C)
n.212A>C
c.*1969A>C (n.*1969A>C)
c.14A>C (p.Glu5Ala)
c.2372A>C (p.Glu791Ala)
c.2309A>C (p.Glu770Ala)
n.1343A>C
c.2378A>C (p.Glu793Ala)
1g.6469157_6469159delCA2642975260PLEKHG5c.2139_2141del (p.Glu714del)
c.2313_2315del (p.Glu772del)
c.2250_2252del (p.Glu751del)
n.2615_2617del
c.2346_2348del (p.Glu783del)
c.2436_2438del (p.Glu813del)
c.*2351_*2353del (n.*2351_*2353del)
n.210_212del
c.*1967_*1969del (n.*1967_*1969del)
c.12_14del (p.Glu5del)
c.2370_2372del (p.Glu791del)
c.2307_2309del (p.Glu770del)
n.1341_1343del
c.2376_2378del (p.Glu793del)
 gnomAD v4
1g.6469160_6469174delCA2642975261PLEKHG5c.2127_2141del (p.Asp709_Glu713del)
c.2301_2315del (p.Asp767_Glu771del)
c.2238_2252del (p.Asp746_Glu750del)
n.2603_2617del
c.2334_2348del (p.Asp778_Glu782del)
c.2424_2438del (p.Asp808_Glu812del)
c.*2339_*2353del (n.*2339_*2353del)
n.198_212del
c.*1955_*1969del (n.*1955_*1969del)
c.2358_2372del (p.Asp786_Glu790del)
c.2295_2309del (p.Asp765_Glu769del)
n.1329_1343del
c.2364_2378del (p.Asp788_Glu792del)
 gnomAD v4
1g.6469155_6469175dupCA2742316341PLEKHG5c.2121_2141dup (p.Glu714_Glu715insGluAspGluGlnGluGluGlu)
c.2295_2315dup (p.Glu772_Glu773insGluAspGluGlnGluGluGlu)
c.2232_2252dup (p.Glu751_Glu752insGluAspGluGlnGluGluGlu)
n.2597_2617dup
c.2328_2348dup (p.Glu783_Glu784insGluAspGluGlnGluGluGlu)
c.2418_2438dup (p.Glu813_Glu814insGluAspGluGlnGluGluGlu)
c.*2333_*2353dup (n.*2333_*2353dup)
n.192_212dup
c.*1949_*1969dup (n.*1949_*1969dup)
c.2352_2372dup (p.Glu791_Glu792insGluAspGluGlnGluGluGlu)
c.2289_2309dup (p.Glu770_Glu771insGluAspGluGlnGluGluGlu)
n.1323_1343dup
c.2358_2378dup (p.Glu793_Glu794insGluAspGluGlnGluGluGlu)
1g.6469151C>ACA338118631PLEKHG5c.2140G>T (p.Glu714Ter)
c.2314G>T (p.Glu772Ter)
c.2251G>T (p.Glu751Ter)
n.2616G>T
c.2347G>T (p.Glu783Ter)
c.2437G>T (p.Glu813Ter)
c.*2352G>T (n.*2352G>T)
n.211G>T
c.*1968G>T (n.*1968G>T)
c.13G>T (p.Glu5Ter)
c.2371G>T (p.Glu791Ter)
c.2308G>T (p.Glu770Ter)
n.1342G>T
c.2377G>T (p.Glu793Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.6469151C=CA1151520552PLEKHG5c.2140G= (p.Glu714=)
c.2314G= (p.Glu772=)
c.2251G= (p.Glu751=)
n.2616G=
c.2347G= (p.Glu783=)
c.2437G= (p.Glu813=)
c.*2352G= (n.*2352G=)
n.211G=
c.*1968G= (n.*1968G=)
c.13G= (p.Glu5=)
c.2371G= (p.Glu791=)
c.2308G= (p.Glu770=)
n.1342G=
c.2377G= (p.Glu793=)
1g.6469151C>GCA338118645PLEKHG5c.2140G>C (p.Glu714Gln)
c.2314G>C (p.Glu772Gln)
c.2251G>C (p.Glu751Gln)
n.2616G>C
c.2347G>C (p.Glu783Gln)
c.2437G>C (p.Glu813Gln)
c.*2352G>C (n.*2352G>C)
n.211G>C
c.*1968G>C (n.*1968G>C)
c.13G>C (p.Glu5Gln)
c.2371G>C (p.Glu791Gln)
c.2308G>C (p.Glu770Gln)
n.1342G>C
c.2377G>C (p.Glu793Gln)
1g.6469151C>TCA338118637PLEKHG5c.2140G>A (p.Glu714Lys)
c.2314G>A (p.Glu772Lys)
c.2251G>A (p.Glu751Lys)
n.2616G>A
c.2347G>A (p.Glu783Lys)
c.2437G>A (p.Glu813Lys)
c.*2352G>A (n.*2352G>A)
n.211G>A
c.*1968G>A (n.*1968G>A)
c.13G>A (p.Glu5Lys)
c.2371G>A (p.Glu791Lys)
c.2308G>A (p.Glu770Lys)
n.1342G>A
c.2377G>A (p.Glu793Lys)
1g.6469152C>ACA338118649PLEKHG5c.2139G>T (p.Glu713Asp)
c.2313G>T (p.Glu771Asp)
c.2250G>T (p.Glu750Asp)
n.2615G>T
c.2346G>T (p.Glu782Asp)
c.2436G>T (p.Glu812Asp)
c.*2351G>T (n.*2351G>T)
n.210G>T
c.*1967G>T (n.*1967G>T)
c.12G>T (p.Glu4Asp)
c.2370G>T (p.Glu790Asp)
c.2307G>T (p.Glu769Asp)
n.1341G>T
c.2376G>T (p.Glu792Asp)
 COSMIC COSMIC COSMIC
1g.6469152C=CA1151520557PLEKHG5c.2139G= (p.Glu713=)
c.2313G= (p.Glu771=)
c.2250G= (p.Glu750=)
n.2615G=
c.2346G= (p.Glu782=)
c.2436G= (p.Glu812=)
c.*2351G= (n.*2351G=)
n.210G=
c.*1967G= (n.*1967G=)
c.12G= (p.Glu4=)
c.2370G= (p.Glu790=)
c.2307G= (p.Glu769=)
n.1341G=
c.2376G= (p.Glu792=)
1g.6469152C>GCA338118651PLEKHG5c.2139G>C (p.Glu713Asp)
c.2313G>C (p.Glu771Asp)
c.2250G>C (p.Glu750Asp)
n.2615G>C
c.2346G>C (p.Glu782Asp)
c.2436G>C (p.Glu812Asp)
c.*2351G>C (n.*2351G>C)
n.210G>C
c.*1967G>C (n.*1967G>C)
c.12G>C (p.Glu4Asp)
c.2370G>C (p.Glu790Asp)
c.2307G>C (p.Glu769Asp)
n.1341G>C
c.2376G>C (p.Glu792Asp)
 dbSNP
1g.6469152C>TCA416022362PLEKHG5c.2139G>A (p.Glu713=)
c.2313G>A (p.Glu771=)
c.2250G>A (p.Glu750=)
n.2615G>A
c.2346G>A (p.Glu782=)
c.2436G>A (p.Glu812=)
c.*2351G>A (n.*2351G>A)
n.210G>A
c.*1967G>A (n.*1967G>A)
c.12G>A (p.Glu4=)
c.2370G>A (p.Glu790=)
c.2307G>A (p.Glu769=)
n.1341G>A
c.2376G>A (p.Glu792=)
 ClinVar
1g.6469153T>ACA338118653PLEKHG5c.2138A>T (p.Glu713Val)
c.2312A>T (p.Glu771Val)
c.2249A>T (p.Glu750Val)
n.2614A>T
c.2345A>T (p.Glu782Val)
c.2435A>T (p.Glu812Val)
c.*2350A>T (n.*2350A>T)
n.209A>T
c.*1966A>T (n.*1966A>T)
c.11A>T (p.Glu4Val)
c.2369A>T (p.Glu790Val)
c.2306A>T (p.Glu769Val)
n.1340A>T
c.2375A>T (p.Glu792Val)
1g.6469153T>CCA338118656PLEKHG5c.2138A>G (p.Glu713Gly)
c.2312A>G (p.Glu771Gly)
c.2249A>G (p.Glu750Gly)
n.2614A>G
c.2345A>G (p.Glu782Gly)
c.2435A>G (p.Glu812Gly)
c.*2350A>G (n.*2350A>G)
n.209A>G
c.*1966A>G (n.*1966A>G)
c.11A>G (p.Glu4Gly)
c.2369A>G (p.Glu790Gly)
c.2306A>G (p.Glu769Gly)
n.1340A>G
c.2375A>G (p.Glu792Gly)
1g.6469153T>GCA338118662PLEKHG5c.2138A>C (p.Glu713Ala)
c.2312A>C (p.Glu771Ala)
c.2249A>C (p.Glu750Ala)
n.2614A>C
c.2345A>C (p.Glu782Ala)
c.2435A>C (p.Glu812Ala)
c.*2350A>C (n.*2350A>C)
n.209A>C
c.*1966A>C (n.*1966A>C)
c.11A>C (p.Glu4Ala)
c.2369A>C (p.Glu790Ala)
c.2306A>C (p.Glu769Ala)
n.1340A>C
c.2375A>C (p.Glu792Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.6469153T=CA1151520560PLEKHG5c.2138A= (p.Glu713=)
c.2312A= (p.Glu771=)
c.2249A= (p.Glu750=)
n.2614A=
c.2345A= (p.Glu782=)
c.2435A= (p.Glu812=)
c.*2350A= (n.*2350A=)
n.209A=
c.*1966A= (n.*1966A=)
c.11A= (p.Glu4=)
c.2369A= (p.Glu790=)
c.2306A= (p.Glu769=)
n.1340A=
c.2375A= (p.Glu792=)
1g.6469154C>ACA338118668PLEKHG5c.2137G>T (p.Glu713Ter)
c.2311G>T (p.Glu771Ter)
c.2248G>T (p.Glu750Ter)
n.2613G>T
c.2344G>T (p.Glu782Ter)
c.2434G>T (p.Glu812Ter)
c.*2349G>T (n.*2349G>T)
n.208G>T
c.*1965G>T (n.*1965G>T)
c.10G>T (p.Glu4Ter)
c.2368G>T (p.Glu790Ter)
c.2305G>T (p.Glu769Ter)
n.1339G>T
c.2374G>T (p.Glu792Ter)
1g.6469154C>GCA338118674PLEKHG5c.2137G>C (p.Glu713Gln)
c.2311G>C (p.Glu771Gln)
c.2248G>C (p.Glu750Gln)
n.2613G>C
c.2344G>C (p.Glu782Gln)
c.2434G>C (p.Glu812Gln)
c.*2349G>C (n.*2349G>C)
n.208G>C
c.*1965G>C (n.*1965G>C)
c.10G>C (p.Glu4Gln)
c.2368G>C (p.Glu790Gln)
c.2305G>C (p.Glu769Gln)
n.1339G>C
c.2374G>C (p.Glu792Gln)
1g.6469154C>TCA338118688PLEKHG5c.2137G>A (p.Glu713Lys)
c.2311G>A (p.Glu771Lys)
c.2248G>A (p.Glu750Lys)
n.2613G>A
c.2344G>A (p.Glu782Lys)
c.2434G>A (p.Glu812Lys)
c.*2349G>A (n.*2349G>A)
n.208G>A
c.*1965G>A (n.*1965G>A)
c.10G>A (p.Glu4Lys)
c.2368G>A (p.Glu790Lys)
c.2305G>A (p.Glu769Lys)
n.1339G>A
c.2374G>A (p.Glu792Lys)
1g.6469155C>ACA338118691PLEKHG5c.2136G>T (p.Glu712Asp)
c.2310G>T (p.Glu770Asp)
c.2247G>T (p.Glu749Asp)
n.2612G>T
c.2343G>T (p.Glu781Asp)
c.2433G>T (p.Glu811Asp)
c.*2348G>T (n.*2348G>T)
n.207G>T
c.*1964G>T (n.*1964G>T)
c.9G>T (p.Glu3Asp)
c.2367G>T (p.Glu789Asp)
c.2304G>T (p.Glu768Asp)
n.1338G>T
c.2373G>T (p.Glu791Asp)
1g.6469155C=CA1151520577PLEKHG5c.2136G= (p.Glu712=)
c.2310G= (p.Glu770=)
c.2247G= (p.Glu749=)
n.2612G=
c.2343G= (p.Glu781=)
c.2433G= (p.Glu811=)
c.*2348G= (n.*2348G=)
n.207G=
c.*1964G= (n.*1964G=)
c.9G= (p.Glu3=)
c.2367G= (p.Glu789=)
c.2304G= (p.Glu768=)
n.1338G=
c.2373G= (p.Glu791=)
1g.6469155C>GCA338118694PLEKHG5c.2136G>C (p.Glu712Asp)
c.2310G>C (p.Glu770Asp)
c.2247G>C (p.Glu749Asp)
n.2612G>C
c.2343G>C (p.Glu781Asp)
c.2433G>C (p.Glu811Asp)
c.*2348G>C (n.*2348G>C)
n.207G>C
c.*1964G>C (n.*1964G>C)
c.9G>C (p.Glu3Asp)
c.2367G>C (p.Glu789Asp)
c.2304G>C (p.Glu768Asp)
n.1338G>C
c.2373G>C (p.Glu791Asp)
1g.6469155C>TCA416022370PLEKHG5c.2136G>A (p.Glu712=)
c.2310G>A (p.Glu770=)
c.2247G>A (p.Glu749=)
n.2612G>A
c.2343G>A (p.Glu781=)
c.2433G>A (p.Glu811=)
c.*2348G>A (n.*2348G>A)
n.207G>A
c.*1964G>A (n.*1964G>A)
c.9G>A (p.Glu3=)
c.2367G>A (p.Glu789=)
c.2304G>A (p.Glu768=)
n.1338G>A
c.2373G>A (p.Glu791=)
 dbSNP gnomAD v2 gnomAD v4
1g.6469155_6469164delinsCTCCTGCTCACA1151520575PLEKHG5c.2127_2136delinsTGAGCAGGAG (p.Asp709=)
c.2301_2310delinsTGAGCAGGAG (p.Asp767=)
c.2238_2247delinsTGAGCAGGAG (p.Asp746=)
n.2603_2612delinsTGAGCAGGAG
c.2334_2343delinsTGAGCAGGAG (p.Asp778=)
c.2424_2433delinsTGAGCAGGAG (p.Asp808=)
c.*2339_*2348delinsTGAGCAGGAG (n.*2339_*2348delinsTGAGCAGGAG)
n.198_207delinsTGAGCAGGAG
c.*1955_*1964delinsTGAGCAGGAG (n.*1955_*1964delinsTGAGCAGGAG)
c.2358_2367delinsTGAGCAGGAG (p.Asp786=)
c.2295_2304delinsTGAGCAGGAG (p.Asp765=)
n.1329_1338delinsTGAGCAGGAG
c.2364_2373delinsTGAGCAGGAG (p.Asp788=)
1g.6469156T>ACA338118698PLEKHG5c.2135A>T (p.Glu712Val)
c.2309A>T (p.Glu770Val)
c.2246A>T (p.Glu749Val)
n.2611A>T
c.2342A>T (p.Glu781Val)
c.2432A>T (p.Glu811Val)
c.*2347A>T (n.*2347A>T)
n.206A>T
c.*1963A>T (n.*1963A>T)
c.8A>T (p.Glu3Val)
c.2366A>T (p.Glu789Val)
c.2303A>T (p.Glu768Val)
n.1337A>T
c.2372A>T (p.Glu791Val)
1g.6469156T>CCA338118697PLEKHG5c.2135A>G (p.Glu712Gly)
c.2309A>G (p.Glu770Gly)
c.2246A>G (p.Glu749Gly)
n.2611A>G
c.2342A>G (p.Glu781Gly)
c.2432A>G (p.Glu811Gly)
c.*2347A>G (n.*2347A>G)
n.206A>G
c.*1963A>G (n.*1963A>G)
c.8A>G (p.Glu3Gly)
c.2366A>G (p.Glu789Gly)
c.2303A>G (p.Glu768Gly)
n.1337A>G
c.2372A>G (p.Glu791Gly)
1g.6469156T>GCA338118695PLEKHG5c.2135A>C (p.Glu712Ala)
c.2309A>C (p.Glu770Ala)
c.2246A>C (p.Glu749Ala)
n.2611A>C
c.2342A>C (p.Glu781Ala)
c.2432A>C (p.Glu811Ala)
c.*2347A>C (n.*2347A>C)
n.206A>C
c.*1963A>C (n.*1963A>C)
c.8A>C (p.Glu3Ala)
c.2366A>C (p.Glu789Ala)
c.2303A>C (p.Glu768Ala)
n.1337A>C
c.2372A>C (p.Glu791Ala)
1g.6469160_6469168delCA561245PLEKHG5c.2127_2135del (p.Asp709_Gln711del)
c.2301_2309del (p.Asp767_Gln769del)
c.2238_2246del (p.Asp746_Gln748del)
n.2603_2611del
c.2334_2342del (p.Asp778_Gln780del)
c.2424_2432del (p.Asp808_Gln810del)
c.*2339_*2347del (n.*2339_*2347del)
n.198_206del
c.*1955_*1963del (n.*1955_*1963del)
c.2358_2366del (p.Asp786_Gln788del)
c.2295_2303del (p.Asp765_Gln767del)
n.1329_1337del
c.2364_2372del (p.Asp788_Gln790del)
 dbSNP ExAC
1g.6469157C>ACA338118699PLEKHG5c.2134G>T (p.Glu712Ter)
c.2308G>T (p.Glu770Ter)
c.2245G>T (p.Glu749Ter)
n.2610G>T
c.2341G>T (p.Glu781Ter)
c.2431G>T (p.Glu811Ter)
c.*2346G>T (n.*2346G>T)
n.205G>T
c.*1962G>T (n.*1962G>T)
c.7G>T (p.Glu3Ter)
c.2365G>T (p.Glu789Ter)
c.2302G>T (p.Glu768Ter)
n.1336G>T
c.2371G>T (p.Glu791Ter)
1g.6469157C>GCA338118702PLEKHG5c.2134G>C (p.Glu712Gln)
c.2308G>C (p.Glu770Gln)
c.2245G>C (p.Glu749Gln)
n.2610G>C
c.2341G>C (p.Glu781Gln)
c.2431G>C (p.Glu811Gln)
c.*2346G>C (n.*2346G>C)
n.205G>C
c.*1962G>C (n.*1962G>C)
c.7G>C (p.Glu3Gln)
c.2365G>C (p.Glu789Gln)
c.2302G>C (p.Glu768Gln)
n.1336G>C
c.2371G>C (p.Glu791Gln)
1g.6469157C>TCA338118705PLEKHG5c.2134G>A (p.Glu712Lys)
c.2308G>A (p.Glu770Lys)
c.2245G>A (p.Glu749Lys)
n.2610G>A
c.2341G>A (p.Glu781Lys)
c.2431G>A (p.Glu811Lys)
c.*2346G>A (n.*2346G>A)
n.205G>A
c.*1962G>A (n.*1962G>A)
c.7G>A (p.Glu3Lys)
c.2365G>A (p.Glu789Lys)
c.2302G>A (p.Glu768Lys)
n.1336G>A
c.2371G>A (p.Glu791Lys)
 gnomAD v4
1g.6469157_6469160delinsCCTGCA1151520584PLEKHG5c.2131_2134delinsCAGG (p.Gln711=)
c.2305_2308delinsCAGG (p.Gln769=)
c.2242_2245delinsCAGG (p.Gln748=)
n.2607_2610delinsCAGG
c.2338_2341delinsCAGG (p.Gln780=)
c.2428_2431delinsCAGG (p.Gln810=)
c.*2343_*2346delinsCAGG (n.*2343_*2346delinsCAGG)
n.202_205delinsCAGG
c.*1959_*1962delinsCAGG (n.*1959_*1962delinsCAGG)
c.4_7delinsCAGG (p.Gln2=)
c.2362_2365delinsCAGG (p.Gln788=)
c.2299_2302delinsCAGG (p.Gln767=)
n.1333_1336delinsCAGG
c.2368_2371delinsCAGG (p.Gln790=)
1g.6469158C>ACA338118714PLEKHG5c.2133G>T (p.Gln711His)
c.2307G>T (p.Gln769His)
c.2244G>T (p.Gln748His)
n.2609G>T
c.2340G>T (p.Gln780His)
c.2430G>T (p.Gln810His)
c.*2345G>T (n.*2345G>T)
n.204G>T
c.*1961G>T (n.*1961G>T)
c.6G>T (p.Gln2His)
c.2364G>T (p.Gln788His)
c.2301G>T (p.Gln767His)
n.1335G>T
c.2370G>T (p.Gln790His)
1g.6469158C>GCA338118719PLEKHG5c.2133G>C (p.Gln711His)
c.2307G>C (p.Gln769His)
c.2244G>C (p.Gln748His)
n.2609G>C
c.2340G>C (p.Gln780His)
c.2430G>C (p.Gln810His)
c.*2345G>C (n.*2345G>C)
n.204G>C
c.*1961G>C (n.*1961G>C)
c.6G>C (p.Gln2His)
c.2364G>C (p.Gln788His)
c.2301G>C (p.Gln767His)
n.1335G>C
c.2370G>C (p.Gln790His)
1g.6469158C>TCA416022386PLEKHG5c.2133G>A (p.Gln711=)
c.2307G>A (p.Gln769=)
c.2244G>A (p.Gln748=)
n.2609G>A
c.2340G>A (p.Gln780=)
c.2430G>A (p.Gln810=)
c.*2345G>A (n.*2345G>A)
n.204G>A
c.*1961G>A (n.*1961G>A)
c.6G>A (p.Gln2=)
c.2364G>A (p.Gln788=)
c.2301G>A (p.Gln767=)
n.1335G>A
c.2370G>A (p.Gln790=)
1g.6469160_6469162delCA521018692PLEKHG5c.2131_2133del (p.Gln711del)
c.2305_2307del (p.Gln769del)
c.2242_2244del (p.Gln748del)
n.2607_2609del
c.2338_2340del (p.Gln780del)
c.2428_2430del (p.Gln810del)
c.*2343_*2345del (n.*2343_*2345del)
n.202_204del
c.*1959_*1961del (n.*1959_*1961del)
c.4_6del (p.Gln2del)
c.2362_2364del (p.Gln788del)
c.2299_2301del (p.Gln767del)
n.1333_1335del
c.2368_2370del (p.Gln790del)
 dbSNP gnomAD v2 gnomAD v4
1g.6469158_6469164delinsCTGCTCACA1151520589PLEKHG5c.2127_2133delinsTGAGCAG (p.Asp709=)
c.2301_2307delinsTGAGCAG (p.Asp767=)
c.2238_2244delinsTGAGCAG (p.Asp746=)
n.2603_2609delinsTGAGCAG
c.2334_2340delinsTGAGCAG (p.Asp778=)
c.2424_2430delinsTGAGCAG (p.Asp808=)
c.*2339_*2345delinsTGAGCAG (n.*2339_*2345delinsTGAGCAG)
n.198_204delinsTGAGCAG
c.*1955_*1961delinsTGAGCAG (n.*1955_*1961delinsTGAGCAG)
c.2358_2364delinsTGAGCAG (p.Asp786=)
c.2295_2301delinsTGAGCAG (p.Asp765=)
n.1329_1335delinsTGAGCAG
c.2364_2370delinsTGAGCAG (p.Asp788=)
1g.6469159delCA2740090577PLEKHG5c.2132del (p.Gln711ArgfsTer?)
c.2306del (p.Gln769ArgfsTer?)
c.2243del (p.Gln748ArgfsTer?)
n.2608del
c.2339del (p.Gln780ArgfsTer?)
c.2429del (p.Gln810ArgfsTer?)
c.*2344del (n.*2344del)
n.203del
c.*1960del (n.*1960del)
c.5del (p.Gln2ArgfsTer?)
c.2363del (p.Gln788ArgfsTer?)
c.2300del (p.Gln767ArgfsTer?)
n.1334del
c.2369del (p.Gln790ArgfsTer?)
 ClinVar
1g.6469159T>ACA338118724PLEKHG5c.2132A>T (p.Gln711Leu)
c.2306A>T (p.Gln769Leu)
c.2243A>T (p.Gln748Leu)
n.2608A>T
c.2339A>T (p.Gln780Leu)
c.2429A>T (p.Gln810Leu)
c.*2344A>T (n.*2344A>T)
n.203A>T
c.*1960A>T (n.*1960A>T)
c.5A>T (p.Gln2Leu)
c.2363A>T (p.Gln788Leu)
c.2300A>T (p.Gln767Leu)
n.1334A>T
c.2369A>T (p.Gln790Leu)
1g.6469159T>CCA10610666PLEKHG5c.2132A>G (p.Gln711Arg)
c.2306A>G (p.Gln769Arg)
c.2243A>G (p.Gln748Arg)
n.2608A>G
c.2339A>G (p.Gln780Arg)
c.2429A>G (p.Gln810Arg)
c.*2344A>G (n.*2344A>G)
n.203A>G
c.*1960A>G (n.*1960A>G)
c.5A>G (p.Gln2Arg)
c.2363A>G (p.Gln788Arg)
c.2300A>G (p.Gln767Arg)
n.1334A>G
c.2369A>G (p.Gln790Arg)
 ClinVar dbSNP
1g.6469159T>GCA338118735PLEKHG5c.2132A>C (p.Gln711Pro)
c.2306A>C (p.Gln769Pro)
c.2243A>C (p.Gln748Pro)
n.2608A>C
c.2339A>C (p.Gln780Pro)
c.2429A>C (p.Gln810Pro)
c.*2344A>C (n.*2344A>C)
n.203A>C
c.*1960A>C (n.*1960A>C)
c.5A>C (p.Gln2Pro)
c.2363A>C (p.Gln788Pro)
c.2300A>C (p.Gln767Pro)
n.1334A>C
c.2369A>C (p.Gln790Pro)
1g.6469159T=CA1151520628PLEKHG5c.2132A= (p.Gln711=)
c.2306A= (p.Gln769=)
c.2243A= (p.Gln748=)
n.2608A=
c.2339A= (p.Gln780=)
c.2429A= (p.Gln810=)
c.*2344A= (n.*2344A=)
n.203A=
c.*1960A= (n.*1960A=)
c.5A= (p.Gln2=)
c.2363A= (p.Gln788=)
c.2300A= (p.Gln767=)
n.1334A=
c.2369A= (p.Gln790=)
1g.6469160_6469165delCA645511754PLEKHG5c.2127_2132del (p.Asp709_Gln711delinsGlu)
c.2301_2306del (p.Asp767_Gln769delinsGlu)
c.2238_2243del (p.Asp746_Gln748delinsGlu)
n.2603_2608del
c.2334_2339del (p.Asp778_Gln780delinsGlu)
c.2424_2429del (p.Asp808_Gln810delinsGlu)
c.*2339_*2344del (n.*2339_*2344del)
n.198_203del
c.*1955_*1960del (n.*1955_*1960del)
c.2358_2363del (p.Asp786_Gln788delinsGlu)
c.2295_2300del (p.Asp765_Gln767delinsGlu)
n.1329_1334del
c.2364_2369del (p.Asp788_Gln790delinsGlu)
 dbSNP COSMIC
1g.6469160G>ACA338118741PLEKHG5c.2131C>T (p.Gln711Ter)
c.2305C>T (p.Gln769Ter)
c.2242C>T (p.Gln748Ter)
n.2607C>T
c.2338C>T (p.Gln780Ter)
c.2428C>T (p.Gln810Ter)
c.*2343C>T (n.*2343C>T)
n.202C>T
c.*1959C>T (n.*1959C>T)
c.4C>T (p.Gln2Ter)
c.2362C>T (p.Gln788Ter)
c.2299C>T (p.Gln767Ter)
n.1333C>T
c.2368C>T (p.Gln790Ter)
 gnomAD v4
1g.6469160G>CCA561246PLEKHG5c.2131C>G (p.Gln711Glu)
c.2305C>G (p.Gln769Glu)
c.2242C>G (p.Gln748Glu)
n.2607C>G
c.2338C>G (p.Gln780Glu)
c.2428C>G (p.Gln810Glu)
c.*2343C>G (n.*2343C>G)
n.202C>G
c.*1959C>G (n.*1959C>G)
c.4C>G (p.Gln2Glu)
c.2362C>G (p.Gln788Glu)
c.2299C>G (p.Gln767Glu)
n.1333C>G
c.2368C>G (p.Gln790Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469160G=CA1151520635PLEKHG5c.2131C= (p.Gln711=)
c.2305C= (p.Gln769=)
c.2242C= (p.Gln748=)
n.2607C=
c.2338C= (p.Gln780=)
c.2428C= (p.Gln810=)
c.*2343C= (n.*2343C=)
n.202C=
c.*1959C= (n.*1959C=)
c.4C= (p.Gln2=)
c.2362C= (p.Gln788=)
c.2299C= (p.Gln767=)
n.1333C=
c.2368C= (p.Gln790=)
1g.6469160G>TCA338118757PLEKHG5c.2131C>A (p.Gln711Lys)
c.2305C>A (p.Gln769Lys)
c.2242C>A (p.Gln748Lys)
n.2607C>A
c.2338C>A (p.Gln780Lys)
c.2428C>A (p.Gln810Lys)
c.*2343C>A (n.*2343C>A)
n.202C>A
c.*1959C>A (n.*1959C>A)
c.4C>A (p.Gln2Lys)
c.2362C>A (p.Gln788Lys)
c.2299C>A (p.Gln767Lys)
n.1333C>A
c.2368C>A (p.Gln790Lys)
1g.6469161C>ACA338118760PLEKHG5c.2130G>T (p.Glu710Asp)
c.2304G>T (p.Glu768Asp)
c.2241G>T (p.Glu747Asp)
n.2606G>T
c.2337G>T (p.Glu779Asp)
c.2427G>T (p.Glu809Asp)
c.*2342G>T (n.*2342G>T)
n.201G>T
c.*1958G>T (n.*1958G>T)
c.3G>T (p.Glu1Asp)
c.2361G>T (p.Glu787Asp)
c.2298G>T (p.Glu766Asp)
n.1332G>T
c.2367G>T (p.Glu789Asp)
1g.6469161C=CA1151520644PLEKHG5c.2130G= (p.Glu710=)
c.2304G= (p.Glu768=)
c.2241G= (p.Glu747=)
n.2606G=
c.2337G= (p.Glu779=)
c.2427G= (p.Glu809=)
c.*2342G= (n.*2342G=)
n.201G=
c.*1958G= (n.*1958G=)
c.3G= (p.Glu1=)
c.2361G= (p.Glu787=)
c.2298G= (p.Glu766=)
n.1332G=
c.2367G= (p.Glu789=)
1g.6469161C>GCA338118761PLEKHG5c.2130G>C (p.Glu710Asp)
c.2304G>C (p.Glu768Asp)
c.2241G>C (p.Glu747Asp)
n.2606G>C
c.2337G>C (p.Glu779Asp)
c.2427G>C (p.Glu809Asp)
c.*2342G>C (n.*2342G>C)
n.201G>C
c.*1958G>C (n.*1958G>C)
c.3G>C (p.Glu1Asp)
c.2361G>C (p.Glu787Asp)
c.2298G>C (p.Glu766Asp)
n.1332G>C
c.2367G>C (p.Glu789Asp)
1g.6469161C>TCA416022400PLEKHG5c.2130G>A (p.Glu710=)
c.2304G>A (p.Glu768=)
c.2241G>A (p.Glu747=)
n.2606G>A
c.2337G>A (p.Glu779=)
c.2427G>A (p.Glu809=)
c.*2342G>A (n.*2342G>A)
n.201G>A
c.*1958G>A (n.*1958G>A)
c.3G>A (p.Glu1=)
c.2361G>A (p.Glu787=)
c.2298G>A (p.Glu766=)
n.1332G>A
c.2367G>A (p.Glu789=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6469162T>ACA338118764PLEKHG5c.2129A>T (p.Glu710Val)
c.2303A>T (p.Glu768Val)
c.2240A>T (p.Glu747Val)
n.2605A>T
c.2336A>T (p.Glu779Val)
c.2426A>T (p.Glu809Val)
c.*2341A>T (n.*2341A>T)
n.200A>T
c.*1957A>T (n.*1957A>T)
c.2A>T (p.Glu1Val)
c.2360A>T (p.Glu787Val)
c.2297A>T (p.Glu766Val)
n.1331A>T
c.2366A>T (p.Glu789Val)
1g.6469162T>CCA338118765PLEKHG5c.2129A>G (p.Glu710Gly)
c.2303A>G (p.Glu768Gly)
c.2240A>G (p.Glu747Gly)
n.2605A>G
c.2336A>G (p.Glu779Gly)
c.2426A>G (p.Glu809Gly)
c.*2341A>G (n.*2341A>G)
n.200A>G
c.*1957A>G (n.*1957A>G)
c.2A>G (p.Glu1Gly)
c.2360A>G (p.Glu787Gly)
c.2297A>G (p.Glu766Gly)
n.1331A>G
c.2366A>G (p.Glu789Gly)
1g.6469162T>GCA338118762PLEKHG5c.2129A>C (p.Glu710Ala)
c.2303A>C (p.Glu768Ala)
c.2240A>C (p.Glu747Ala)
n.2605A>C
c.2336A>C (p.Glu779Ala)
c.2426A>C (p.Glu809Ala)
c.*2341A>C (n.*2341A>C)
n.200A>C
c.*1957A>C (n.*1957A>C)
c.2A>C (p.Glu1Ala)
c.2360A>C (p.Glu787Ala)
c.2297A>C (p.Glu766Ala)
n.1331A>C
c.2366A>C (p.Glu789Ala)
1g.6469163C>ACA338118766PLEKHG5c.2128G>T (p.Glu710Ter)
c.2302G>T (p.Glu768Ter)
c.2239G>T (p.Glu747Ter)
n.2604G>T
c.2335G>T (p.Glu779Ter)
c.2425G>T (p.Glu809Ter)
c.*2340G>T (n.*2340G>T)
n.199G>T
c.*1956G>T (n.*1956G>T)
c.1G>T (p.Glu1Ter)
c.2359G>T (p.Glu787Ter)
c.2296G>T (p.Glu766Ter)
n.1330G>T
c.2365G>T (p.Glu789Ter)
1g.6469163C>GCA338118770PLEKHG5c.2128G>C (p.Glu710Gln)
c.2302G>C (p.Glu768Gln)
c.2239G>C (p.Glu747Gln)
n.2604G>C
c.2335G>C (p.Glu779Gln)
c.2425G>C (p.Glu809Gln)
c.*2340G>C (n.*2340G>C)
n.199G>C
c.*1956G>C (n.*1956G>C)
c.1G>C (p.Glu1Gln)
c.2359G>C (p.Glu787Gln)
c.2296G>C (p.Glu766Gln)
n.1330G>C
c.2365G>C (p.Glu789Gln)
1g.6469163C>TCA338118767PLEKHG5c.2128G>A (p.Glu710Lys)
c.2302G>A (p.Glu768Lys)
c.2239G>A (p.Glu747Lys)
n.2604G>A
c.2335G>A (p.Glu779Lys)
c.2425G>A (p.Glu809Lys)
c.*2340G>A (n.*2340G>A)
n.199G>A
c.*1956G>A (n.*1956G>A)
c.1G>A (p.Glu1Lys)
c.2359G>A (p.Glu787Lys)
c.2296G>A (p.Glu766Lys)
n.1330G>A
c.2365G>A (p.Glu789Lys)
1g.6469164A=CA1151520649PLEKHG5c.2127T= (p.Asp709=)
c.2301T= (p.Asp767=)
c.2238T= (p.Asp746=)
n.2603T=
c.2334T= (p.Asp778=)
c.2424T= (p.Asp808=)
c.*2339T= (n.*2339T=)
n.198T=
c.*1955T= (n.*1955T=)
c.2358T= (p.Asp786=)
c.2295T= (p.Asp765=)
n.1329T=
c.2364T= (p.Asp788=)
1g.6469164A>CCA338118775PLEKHG5c.2127T>G (p.Asp709Glu)
c.2301T>G (p.Asp767Glu)
c.2238T>G (p.Asp746Glu)
n.2603T>G
c.2334T>G (p.Asp778Glu)
c.2424T>G (p.Asp808Glu)
c.*2339T>G (n.*2339T>G)
n.198T>G
c.*1955T>G (n.*1955T>G)
c.2358T>G (p.Asp786Glu)
c.2295T>G (p.Asp765Glu)
n.1329T>G
c.2364T>G (p.Asp788Glu)
1g.6469164A>GCA416022410PLEKHG5c.2127T>C (p.Asp709=)
c.2301T>C (p.Asp767=)
c.2238T>C (p.Asp746=)
n.2603T>C
c.2334T>C (p.Asp778=)
c.2424T>C (p.Asp808=)
c.*2339T>C (n.*2339T>C)
n.198T>C
c.*1955T>C (n.*1955T>C)
c.2358T>C (p.Asp786=)
c.2295T>C (p.Asp765=)
n.1329T>C
c.2364T>C (p.Asp788=)
1g.6469164A>TCA17234975PLEKHG5c.2127T>A (p.Asp709Glu)
c.2301T>A (p.Asp767Glu)
c.2238T>A (p.Asp746Glu)
n.2603T>A
c.2334T>A (p.Asp778Glu)
c.2424T>A (p.Asp808Glu)
c.*2339T>A (n.*2339T>A)
n.198T>A
c.*1955T>A (n.*1955T>A)
c.2358T>A (p.Asp786Glu)
c.2295T>A (p.Asp765Glu)
n.1329T>A
c.2364T>A (p.Asp788Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.6469165T>ACA338118788PLEKHG5c.2126A>T (p.Asp709Val)
c.2300A>T (p.Asp767Val)
c.2237A>T (p.Asp746Val)
n.2602A>T
c.2333A>T (p.Asp778Val)
c.2423A>T (p.Asp808Val)
c.*2338A>T (n.*2338A>T)
n.197A>T
c.*1954A>T (n.*1954A>T)
c.2357A>T (p.Asp786Val)
c.2294A>T (p.Asp765Val)
n.1328A>T
c.2363A>T (p.Asp788Val)
1g.6469165T>CCA338118790PLEKHG5c.2126A>G (p.Asp709Gly)
c.2300A>G (p.Asp767Gly)
c.2237A>G (p.Asp746Gly)
n.2602A>G
c.2333A>G (p.Asp778Gly)
c.2423A>G (p.Asp808Gly)
c.*2338A>G (n.*2338A>G)
n.197A>G
c.*1954A>G (n.*1954A>G)
c.2357A>G (p.Asp786Gly)
c.2294A>G (p.Asp765Gly)
n.1328A>G
c.2363A>G (p.Asp788Gly)
1g.6469165T>GCA338118792PLEKHG5c.2126A>C (p.Asp709Ala)
c.2300A>C (p.Asp767Ala)
c.2237A>C (p.Asp746Ala)
n.2602A>C
c.2333A>C (p.Asp778Ala)
c.2423A>C (p.Asp808Ala)
c.*2338A>C (n.*2338A>C)
n.197A>C
c.*1954A>C (n.*1954A>C)
c.2357A>C (p.Asp786Ala)
c.2294A>C (p.Asp765Ala)
n.1328A>C
c.2363A>C (p.Asp788Ala)
1g.6469173_6469175dupCA2580611387PLEKHG5c.2124_2126dup (p.Glu708_Asp709insGlu)
c.2298_2300dup (p.Glu766_Asp767insGlu)
c.2235_2237dup (p.Glu745_Asp746insGlu)
n.2600_2602dup
c.2331_2333dup (p.Glu777_Asp778insGlu)
c.2421_2423dup (p.Glu807_Asp808insGlu)
c.*2336_*2338dup (n.*2336_*2338dup)
n.195_197dup
c.*1952_*1954dup (n.*1952_*1954dup)
c.2355_2357dup (p.Glu785_Asp786insGlu)
c.2292_2294dup (p.Glu764_Asp765insGlu)
n.1326_1328dup
c.2361_2363dup (p.Glu787_Asp788insGlu)
 ClinVar
1g.6469167_6469175dupCA561247PLEKHG5c.2118_2126dup (p.Glu708_Asp709insGluGluGlu)
c.2292_2300dup (p.Glu766_Asp767insGluGluGlu)
c.2229_2237dup (p.Glu745_Asp746insGluGluGlu)
n.2594_2602dup
c.2325_2333dup (p.Glu777_Asp778insGluGluGlu)
c.2415_2423dup (p.Glu807_Asp808insGluGluGlu)
c.*2330_*2338dup (n.*2330_*2338dup)
n.189_197dup
c.*1946_*1954dup (n.*1946_*1954dup)
c.2349_2357dup (p.Glu785_Asp786insGluGluGlu)
c.2286_2294dup (p.Glu764_Asp765insGluGluGlu)
n.1320_1328dup
c.2355_2363dup (p.Glu787_Asp788insGluGluGlu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6469173_6469175delCA2580611386PLEKHG5c.2124_2126del (p.Glu708del)
c.2298_2300del (p.Glu766del)
c.2235_2237del (p.Glu745del)
n.2600_2602del
c.2331_2333del (p.Glu777del)
c.2421_2423del (p.Glu807del)
c.*2336_*2338del (n.*2336_*2338del)
n.195_197del
c.*1952_*1954del (n.*1952_*1954del)
c.2355_2357del (p.Glu785del)
c.2292_2294del (p.Glu764del)
n.1326_1328del
c.2361_2363del (p.Glu787del)
 ClinVar dbSNP gnomAD v4
1g.6469166C>ACA338118795PLEKHG5c.2125G>T (p.Asp709Tyr)
c.2299G>T (p.Asp767Tyr)
c.2236G>T (p.Asp746Tyr)
n.2601G>T
c.2332G>T (p.Asp778Tyr)
c.2422G>T (p.Asp808Tyr)
c.*2337G>T (n.*2337G>T)
n.196G>T
c.*1953G>T (n.*1953G>T)
c.2356G>T (p.Asp786Tyr)
c.2293G>T (p.Asp765Tyr)
n.1327G>T
c.2362G>T (p.Asp788Tyr)
1g.6469166C=CA1143541672PLEKHG5c.2125G= (p.Asp709=)
c.2299G= (p.Asp767=)
c.2236G= (p.Asp746=)
n.2601G=
c.2332G= (p.Asp778=)
c.2422G= (p.Asp808=)
c.*2337G= (n.*2337G=)
n.196G=
c.*1953G= (n.*1953G=)
c.2356G= (p.Asp786=)
c.2293G= (p.Asp765=)
n.1327G=
c.2362G= (p.Asp788=)
1g.6469166C>GCA338118797PLEKHG5c.2125G>C (p.Asp709His)
c.2299G>C (p.Asp767His)
c.2236G>C (p.Asp746His)
n.2601G>C
c.2332G>C (p.Asp778His)
c.2422G>C (p.Asp808His)
c.*2337G>C (n.*2337G>C)
n.196G>C
c.*1953G>C (n.*1953G>C)
c.2356G>C (p.Asp786His)
c.2293G>C (p.Asp765His)
n.1327G>C
c.2362G>C (p.Asp788His)
1g.6469166C>TCA561248PLEKHG5c.2125G>A (p.Asp709Asn)
c.2299G>A (p.Asp767Asn)
c.2236G>A (p.Asp746Asn)
n.2601G>A
c.2332G>A (p.Asp778Asn)
c.2422G>A (p.Asp808Asn)
c.*2337G>A (n.*2337G>A)
n.196G>A
c.*1953G>A (n.*1953G>A)
c.2356G>A (p.Asp786Asn)
c.2293G>A (p.Asp765Asn)
n.1327G>A
c.2362G>A (p.Asp788Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6469167C>ACA338118806PLEKHG5c.2124G>T (p.Glu708Asp)
c.2298G>T (p.Glu766Asp)
c.2235G>T (p.Glu745Asp)
n.2600G>T
c.2331G>T (p.Glu777Asp)
c.2421G>T (p.Glu807Asp)
c.*2336G>T (n.*2336G>T)
n.195G>T
c.*1952G>T (n.*1952G>T)
c.2355G>T (p.Glu785Asp)
c.2292G>T (p.Glu764Asp)
n.1326G>T
c.2361G>T (p.Glu787Asp)
1g.6469167C=CA1143734309PLEKHG5c.2124G= (p.Glu708=)
c.2298G= (p.Glu766=)
c.2235G= (p.Glu745=)
n.2600G=
c.2331G= (p.Glu777=)
c.2421G= (p.Glu807=)
c.*2336G= (n.*2336G=)
n.195G=
c.*1952G= (n.*1952G=)
c.2355G= (p.Glu785=)
c.2292G= (p.Glu764=)
n.1326G=
c.2361G= (p.Glu787=)
1g.6469167C>GCA338118809PLEKHG5c.2124G>C (p.Glu708Asp)
c.2298G>C (p.Glu766Asp)
c.2235G>C (p.Glu745Asp)
n.2600G>C
c.2331G>C (p.Glu777Asp)
c.2421G>C (p.Glu807Asp)
c.*2336G>C (n.*2336G>C)
n.195G>C
c.*1952G>C (n.*1952G>C)
c.2355G>C (p.Glu785Asp)
c.2292G>C (p.Glu764Asp)
n.1326G>C
c.2361G>C (p.Glu787Asp)
1g.6469167C>TCA561249PLEKHG5c.2124G>A (p.Glu708=)
c.2298G>A (p.Glu766=)
c.2235G>A (p.Glu745=)
n.2600G>A
c.2331G>A (p.Glu777=)
c.2421G>A (p.Glu807=)
c.*2336G>A (n.*2336G>A)
n.195G>A
c.*1952G>A (n.*1952G>A)
c.2355G>A (p.Glu785=)
c.2292G>A (p.Glu764=)
n.1326G>A
c.2361G>A (p.Glu787=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469168T>ACA338118816PLEKHG5c.2123A>T (p.Glu708Val)
c.2297A>T (p.Glu766Val)
c.2234A>T (p.Glu745Val)
n.2599A>T
c.2330A>T (p.Glu777Val)
c.2420A>T (p.Glu807Val)
c.*2335A>T (n.*2335A>T)
n.194A>T
c.*1951A>T (n.*1951A>T)
c.2354A>T (p.Glu785Val)
c.2291A>T (p.Glu764Val)
n.1325A>T
c.2360A>T (p.Glu787Val)
1g.6469168T>CCA338118842PLEKHG5c.2123A>G (p.Glu708Gly)
c.2297A>G (p.Glu766Gly)
c.2234A>G (p.Glu745Gly)
n.2599A>G
c.2330A>G (p.Glu777Gly)
c.2420A>G (p.Glu807Gly)
c.*2335A>G (n.*2335A>G)
n.194A>G
c.*1951A>G (n.*1951A>G)
c.2354A>G (p.Glu785Gly)
c.2291A>G (p.Glu764Gly)
n.1325A>G
c.2360A>G (p.Glu787Gly)
1g.6469168T>GCA338118847PLEKHG5c.2123A>C (p.Glu708Ala)
c.2297A>C (p.Glu766Ala)
c.2234A>C (p.Glu745Ala)
n.2599A>C
c.2330A>C (p.Glu777Ala)
c.2420A>C (p.Glu807Ala)
c.*2335A>C (n.*2335A>C)
n.194A>C
c.*1951A>C (n.*1951A>C)
c.2354A>C (p.Glu785Ala)
c.2291A>C (p.Glu764Ala)
n.1325A>C
c.2360A>C (p.Glu787Ala)
1g.6469169C>ACA338118852PLEKHG5c.2122G>T (p.Glu708Ter)
c.2296G>T (p.Glu766Ter)
c.2233G>T (p.Glu745Ter)
n.2598G>T
c.2329G>T (p.Glu777Ter)
c.2419G>T (p.Glu807Ter)
c.*2334G>T (n.*2334G>T)
n.193G>T
c.*1950G>T (n.*1950G>T)
c.2353G>T (p.Glu785Ter)
c.2290G>T (p.Glu764Ter)
n.1324G>T
c.2359G>T (p.Glu787Ter)
1g.6469169C>GCA338118859PLEKHG5c.2122G>C (p.Glu708Gln)
c.2296G>C (p.Glu766Gln)
c.2233G>C (p.Glu745Gln)
n.2598G>C
c.2329G>C (p.Glu777Gln)
c.2419G>C (p.Glu807Gln)
c.*2334G>C (n.*2334G>C)
n.193G>C
c.*1950G>C (n.*1950G>C)
c.2353G>C (p.Glu785Gln)
c.2290G>C (p.Glu764Gln)
n.1324G>C
c.2359G>C (p.Glu787Gln)
1g.6469169C>TCA338118855PLEKHG5c.2122G>A (p.Glu708Lys)
c.2296G>A (p.Glu766Lys)
c.2233G>A (p.Glu745Lys)
n.2598G>A
c.2329G>A (p.Glu777Lys)
c.2419G>A (p.Glu807Lys)
c.*2334G>A (n.*2334G>A)
n.193G>A
c.*1950G>A (n.*1950G>A)
c.2353G>A (p.Glu785Lys)
c.2290G>A (p.Glu764Lys)
n.1324G>A
c.2359G>A (p.Glu787Lys)
 gnomAD v4
1g.6469170C>ACA338118863PLEKHG5c.2121G>T (p.Glu707Asp)
c.2295G>T (p.Glu765Asp)
c.2232G>T (p.Glu744Asp)
n.2597G>T
c.2328G>T (p.Glu776Asp)
c.2418G>T (p.Glu806Asp)
c.*2333G>T (n.*2333G>T)
n.192G>T
c.*1949G>T (n.*1949G>T)
c.2352G>T (p.Glu784Asp)
c.2289G>T (p.Glu763Asp)
n.1323G>T
c.2358G>T (p.Glu786Asp)
1g.6469170C>GCA338118877PLEKHG5c.2121G>C (p.Glu707Asp)
c.2295G>C (p.Glu765Asp)
c.2232G>C (p.Glu744Asp)
n.2597G>C
c.2328G>C (p.Glu776Asp)
c.2418G>C (p.Glu806Asp)
c.*2333G>C (n.*2333G>C)
n.192G>C
c.*1949G>C (n.*1949G>C)
c.2352G>C (p.Glu784Asp)
c.2289G>C (p.Glu763Asp)
n.1323G>C
c.2358G>C (p.Glu786Asp)
 gnomAD v4
1g.6469170C>TCA416022445PLEKHG5c.2121G>A (p.Glu707=)
c.2295G>A (p.Glu765=)
c.2232G>A (p.Glu744=)
n.2597G>A
c.2328G>A (p.Glu776=)
c.2418G>A (p.Glu806=)
c.*2333G>A (n.*2333G>A)
n.192G>A
c.*1949G>A (n.*1949G>A)
c.2352G>A (p.Glu784=)
c.2289G>A (p.Glu763=)
n.1323G>A
c.2358G>A (p.Glu786=)
 gnomAD v4
1g.6469171T>ACA338118883PLEKHG5c.2120A>T (p.Glu707Val)
c.2294A>T (p.Glu765Val)
c.2231A>T (p.Glu744Val)
n.2596A>T
c.2327A>T (p.Glu776Val)
c.2417A>T (p.Glu806Val)
c.*2332A>T (n.*2332A>T)
n.191A>T
c.*1948A>T (n.*1948A>T)
c.2351A>T (p.Glu784Val)
c.2288A>T (p.Glu763Val)
n.1322A>T
c.2357A>T (p.Glu786Val)
1g.6469171T>CCA338118885PLEKHG5c.2120A>G (p.Glu707Gly)
c.2294A>G (p.Glu765Gly)
c.2231A>G (p.Glu744Gly)
n.2596A>G
c.2327A>G (p.Glu776Gly)
c.2417A>G (p.Glu806Gly)
c.*2332A>G (n.*2332A>G)
n.191A>G
c.*1948A>G (n.*1948A>G)
c.2351A>G (p.Glu784Gly)
c.2288A>G (p.Glu763Gly)
n.1322A>G
c.2357A>G (p.Glu786Gly)
 dbSNP
1g.6469171T>GCA338118887PLEKHG5c.2120A>C (p.Glu707Ala)
c.2294A>C (p.Glu765Ala)
c.2231A>C (p.Glu744Ala)
n.2596A>C
c.2327A>C (p.Glu776Ala)
c.2417A>C (p.Glu806Ala)
c.*2332A>C (n.*2332A>C)
n.191A>C
c.*1948A>C (n.*1948A>C)
c.2351A>C (p.Glu784Ala)
c.2288A>C (p.Glu763Ala)
n.1322A>C
c.2357A>C (p.Glu786Ala)
1g.6469171T=CA1151520662PLEKHG5c.2120A= (p.Glu707=)
c.2294A= (p.Glu765=)
c.2231A= (p.Glu744=)
n.2596A=
c.2327A= (p.Glu776=)
c.2417A= (p.Glu806=)
c.*2332A= (n.*2332A=)
n.191A=
c.*1948A= (n.*1948A=)
c.2351A= (p.Glu784=)
c.2288A= (p.Glu763=)
n.1322A=
c.2357A= (p.Glu786=)
1g.6469172C>ACA338118891PLEKHG5c.2119G>T (p.Glu707Ter)
c.2293G>T (p.Glu765Ter)
c.2230G>T (p.Glu744Ter)
n.2595G>T
c.2326G>T (p.Glu776Ter)
c.2416G>T (p.Glu806Ter)
c.*2331G>T (n.*2331G>T)
n.190G>T
c.*1947G>T (n.*1947G>T)
c.2350G>T (p.Glu784Ter)
c.2287G>T (p.Glu763Ter)
n.1321G>T
c.2356G>T (p.Glu786Ter)
1g.6469172C>GCA338118893PLEKHG5c.2119G>C (p.Glu707Gln)
c.2293G>C (p.Glu765Gln)
c.2230G>C (p.Glu744Gln)
n.2595G>C
c.2326G>C (p.Glu776Gln)
c.2416G>C (p.Glu806Gln)
c.*2331G>C (n.*2331G>C)
n.190G>C
c.*1947G>C (n.*1947G>C)
c.2350G>C (p.Glu784Gln)
c.2287G>C (p.Glu763Gln)
n.1321G>C
c.2356G>C (p.Glu786Gln)
1g.6469172C>TCA338118894PLEKHG5c.2119G>A (p.Glu707Lys)
c.2293G>A (p.Glu765Lys)
c.2230G>A (p.Glu744Lys)
n.2595G>A
c.2326G>A (p.Glu776Lys)
c.2416G>A (p.Glu806Lys)
c.*2331G>A (n.*2331G>A)
n.190G>A
c.*1947G>A (n.*1947G>A)
c.2350G>A (p.Glu784Lys)
c.2287G>A (p.Glu763Lys)
n.1321G>A
c.2356G>A (p.Glu786Lys)
1g.6469173C>ACA338118895PLEKHG5c.2118G>T (p.Glu706Asp)
c.2292G>T (p.Glu764Asp)
c.2229G>T (p.Glu743Asp)
n.2594G>T
c.2325G>T (p.Glu775Asp)
c.2415G>T (p.Glu805Asp)
c.*2330G>T (n.*2330G>T)
n.189G>T
c.*1946G>T (n.*1946G>T)
c.2349G>T (p.Glu783Asp)
c.2286G>T (p.Glu762Asp)
n.1320G>T
c.2355G>T (p.Glu785Asp)
1g.6469173C>GCA338118896PLEKHG5c.2118G>C (p.Glu706Asp)
c.2292G>C (p.Glu764Asp)
c.2229G>C (p.Glu743Asp)
n.2594G>C
c.2325G>C (p.Glu775Asp)
c.2415G>C (p.Glu805Asp)
c.*2330G>C (n.*2330G>C)
n.189G>C
c.*1946G>C (n.*1946G>C)
c.2349G>C (p.Glu783Asp)
c.2286G>C (p.Glu762Asp)
n.1320G>C
c.2355G>C (p.Glu785Asp)
1g.6469173C>TCA416022453PLEKHG5c.2118G>A (p.Glu706=)
c.2292G>A (p.Glu764=)
c.2229G>A (p.Glu743=)
n.2594G>A
c.2325G>A (p.Glu775=)
c.2415G>A (p.Glu805=)
c.*2330G>A (n.*2330G>A)
n.189G>A
c.*1946G>A (n.*1946G>A)
c.2349G>A (p.Glu783=)
c.2286G>A (p.Glu762=)
n.1320G>A
c.2355G>A (p.Glu785=)
1g.6469174T>ACA338118908PLEKHG5c.2117A>T (p.Glu706Val)
c.2291A>T (p.Glu764Val)
c.2228A>T (p.Glu743Val)
n.2593A>T
c.2324A>T (p.Glu775Val)
c.2414A>T (p.Glu805Val)
c.*2329A>T (n.*2329A>T)
n.188A>T
c.*1945A>T (n.*1945A>T)
c.2348A>T (p.Glu783Val)
c.2285A>T (p.Glu762Val)
n.1319A>T
c.2354A>T (p.Glu785Val)
1g.6469174T>CCA561250PLEKHG5c.2117A>G (p.Glu706Gly)
c.2291A>G (p.Glu764Gly)
c.2228A>G (p.Glu743Gly)
n.2593A>G
c.2324A>G (p.Glu775Gly)
c.2414A>G (p.Glu805Gly)
c.*2329A>G (n.*2329A>G)
n.188A>G
c.*1945A>G (n.*1945A>G)
c.2348A>G (p.Glu783Gly)
c.2285A>G (p.Glu762Gly)
n.1319A>G
c.2354A>G (p.Glu785Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469174T>GCA338118899PLEKHG5c.2117A>C (p.Glu706Ala)
c.2291A>C (p.Glu764Ala)
c.2228A>C (p.Glu743Ala)
n.2593A>C
c.2324A>C (p.Glu775Ala)
c.2414A>C (p.Glu805Ala)
c.*2329A>C (n.*2329A>C)
n.188A>C
c.*1945A>C (n.*1945A>C)
c.2348A>C (p.Glu783Ala)
c.2285A>C (p.Glu762Ala)
n.1319A>C
c.2354A>C (p.Glu785Ala)
1g.6469174T=CA1143451552PLEKHG5c.2117A= (p.Glu706=)
c.2291A= (p.Glu764=)
c.2228A= (p.Glu743=)
n.2593A=
c.2324A= (p.Glu775=)
c.2414A= (p.Glu805=)
c.*2329A= (n.*2329A=)
n.188A=
c.*1945A= (n.*1945A=)
c.2348A= (p.Glu783=)
c.2285A= (p.Glu762=)
n.1319A=
c.2354A= (p.Glu785=)
1g.6469175C>ACA338118910PLEKHG5c.2116G>T (p.Glu706Ter)
c.2290G>T (p.Glu764Ter)
c.2227G>T (p.Glu743Ter)
n.2592G>T
c.2323G>T (p.Glu775Ter)
c.2413G>T (p.Glu805Ter)
c.*2328G>T (n.*2328G>T)
n.187G>T
c.*1944G>T (n.*1944G>T)
c.2347G>T (p.Glu783Ter)
c.2284G>T (p.Glu762Ter)
n.1318G>T
c.2353G>T (p.Glu785Ter)
1g.6469175C=CA1151520674PLEKHG5c.2116G= (p.Glu706=)
c.2290G= (p.Glu764=)
c.2227G= (p.Glu743=)
n.2592G=
c.2323G= (p.Glu775=)
c.2413G= (p.Glu805=)
c.*2328G= (n.*2328G=)
n.187G=
c.*1944G= (n.*1944G=)
c.2347G= (p.Glu783=)
c.2284G= (p.Glu762=)
n.1318G=
c.2353G= (p.Glu785=)
1g.6469175C>GCA338118912PLEKHG5c.2116G>C (p.Glu706Gln)
c.2290G>C (p.Glu764Gln)
c.2227G>C (p.Glu743Gln)
n.2592G>C
c.2323G>C (p.Glu775Gln)
c.2413G>C (p.Glu805Gln)
c.*2328G>C (n.*2328G>C)
n.187G>C
c.*1944G>C (n.*1944G>C)
c.2347G>C (p.Glu783Gln)
c.2284G>C (p.Glu762Gln)
n.1318G>C
c.2353G>C (p.Glu785Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.6469175C>TCA338118913PLEKHG5c.2116G>A (p.Glu706Lys)
c.2290G>A (p.Glu764Lys)
c.2227G>A (p.Glu743Lys)
n.2592G>A
c.2323G>A (p.Glu775Lys)
c.2413G>A (p.Glu805Lys)
c.*2328G>A (n.*2328G>A)
n.187G>A
c.*1944G>A (n.*1944G>A)
c.2347G>A (p.Glu783Lys)
c.2284G>A (p.Glu762Lys)
n.1318G>A
c.2353G>A (p.Glu785Lys)
1g.6469175dupCA916099469PLEKHG5c.2116dup (p.Glu706GlyfsTer5)
c.2290dup (p.Glu764GlyfsTer5)
c.2227dup (p.Glu743GlyfsTer5)
n.2592dup
c.2323dup (p.Glu775GlyfsTer5)
c.2413dup (p.Glu805GlyfsTer5)
c.*2328dup (n.*2328dup)
n.187dup
c.*1944dup (n.*1944dup)
c.2347dup (p.Glu783GlyfsTer5)
c.2284dup (p.Glu762GlyfsTer5)
n.1318dup
c.2353dup (p.Glu785GlyfsTer5)
 dbSNP gnomAD v4
1g.6469176T>ACA338118914PLEKHG5c.2115A>T (p.Glu705Asp)
c.2289A>T (p.Glu763Asp)
c.2226A>T (p.Glu742Asp)
n.2591A>T
c.2322A>T (p.Glu774Asp)
c.2412A>T (p.Glu804Asp)
c.*2327A>T (n.*2327A>T)
n.186A>T
c.*1943A>T (n.*1943A>T)
c.2346A>T (p.Glu782Asp)
c.2283A>T (p.Glu761Asp)
n.1317A>T
c.2352A>T (p.Glu784Asp)
1g.6469176T>CCA416022463PLEKHG5c.2115A>G (p.Glu705=)
c.2289A>G (p.Glu763=)
c.2226A>G (p.Glu742=)
n.2591A>G
c.2322A>G (p.Glu774=)
c.2412A>G (p.Glu804=)
c.*2327A>G (n.*2327A>G)
n.186A>G
c.*1943A>G (n.*1943A>G)
c.2346A>G (p.Glu782=)
c.2283A>G (p.Glu761=)
n.1317A>G
c.2352A>G (p.Glu784=)
1g.6469176T>GCA338118917PLEKHG5c.2115A>C (p.Glu705Asp)
c.2289A>C (p.Glu763Asp)
c.2226A>C (p.Glu742Asp)
n.2591A>C
c.2322A>C (p.Glu774Asp)
c.2412A>C (p.Glu804Asp)
c.*2327A>C (n.*2327A>C)
n.186A>C
c.*1943A>C (n.*1943A>C)
c.2346A>C (p.Glu782Asp)
c.2283A>C (p.Glu761Asp)
n.1317A>C
c.2352A>C (p.Glu784Asp)
 gnomAD v4
1g.6469176T=CA1151520678PLEKHG5c.2115A= (p.Glu705=)
c.2289A= (p.Glu763=)
c.2226A= (p.Glu742=)
n.2591A=
c.2322A= (p.Glu774=)
c.2412A= (p.Glu804=)
c.*2327A= (n.*2327A=)
n.186A=
c.*1943A= (n.*1943A=)
c.2346A= (p.Glu782=)
c.2283A= (p.Glu761=)
n.1317A=
c.2352A= (p.Glu784=)
1g.6469176_6469177insCCTCCTCTTCCCA2642975331PLEKHG5c.2114_2115insGGAAGAGGAGG (p.Asp709GlufsTer?)
c.2288_2289insGGAAGAGGAGG (p.Asp767GlufsTer?)
c.2225_2226insGGAAGAGGAGG (p.Asp746GlufsTer?)
n.2590_2591insGGAAGAGGAGG
c.2321_2322insGGAAGAGGAGG (p.Asp778GlufsTer?)
c.2411_2412insGGAAGAGGAGG (p.Asp808GlufsTer?)
c.*2326_*2327insGGAAGAGGAGG (n.*2326_*2327insGGAAGAGGAGG)
n.185_186insGGAAGAGGAGG
c.*1942_*1943insGGAAGAGGAGG (n.*1942_*1943insGGAAGAGGAGG)
c.2345_2346insGGAAGAGGAGG (p.Asp786GlufsTer?)
c.2282_2283insGGAAGAGGAGG (p.Asp765GlufsTer?)
n.1316_1317insGGAAGAGGAGG
c.2351_2352insGGAAGAGGAGG (p.Asp788GlufsTer?)
 gnomAD v4
1g.6469176_6469177insCCTCCTCTTCCTCCTCCTGCTCACA916099471PLEKHG5c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu705AspfsTer?)
c.2288_2289insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu763AspfsTer?)
c.2225_2226insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu742AspfsTer?)
n.2590_2591insTGAGCAGGAGGAGGAAGAGGAGG
c.2321_2322insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu774AspfsTer?)
c.2411_2412insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu804AspfsTer?)
c.*2326_*2327insTGAGCAGGAGGAGGAAGAGGAGG (n.*2326_*2327insTGAGCAGGAGGAGGAAGAGGAGG)
n.185_186insTGAGCAGGAGGAGGAAGAGGAGG
c.*1942_*1943insTGAGCAGGAGGAGGAAGAGGAGG (n.*1942_*1943insTGAGCAGGAGGAGGAAGAGGAGG)
c.2345_2346insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu782AspfsTer?)
c.2282_2283insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu761AspfsTer?)
n.1316_1317insTGAGCAGGAGGAGGAAGAGGAGG
c.2351_2352insTGAGCAGGAGGAGGAAGAGGAGG (p.Glu784AspfsTer?)
 dbSNP gnomAD v4
1g.6469177T>ACA338118921PLEKHG5c.2114A>T (p.Glu705Val)
c.2288A>T (p.Glu763Val)
c.2225A>T (p.Glu742Val)
n.2590A>T
c.2321A>T (p.Glu774Val)
c.2411A>T (p.Glu804Val)
c.*2326A>T (n.*2326A>T)
n.185A>T
c.*1942A>T (n.*1942A>T)
c.2345A>T (p.Glu782Val)
c.2282A>T (p.Glu761Val)
n.1316A>T
c.2351A>T (p.Glu784Val)
1g.6469177T>CCA338118923PLEKHG5c.2114A>G (p.Glu705Gly)
c.2288A>G (p.Glu763Gly)
c.2225A>G (p.Glu742Gly)
n.2590A>G
c.2321A>G (p.Glu774Gly)
c.2411A>G (p.Glu804Gly)
c.*2326A>G (n.*2326A>G)
n.185A>G
c.*1942A>G (n.*1942A>G)
c.2345A>G (p.Glu782Gly)
c.2282A>G (p.Glu761Gly)
n.1316A>G
c.2351A>G (p.Glu784Gly)
1g.6469177T>GCA338118925PLEKHG5c.2114A>C (p.Glu705Ala)
c.2288A>C (p.Glu763Ala)
c.2225A>C (p.Glu742Ala)
n.2590A>C
c.2321A>C (p.Glu774Ala)
c.2411A>C (p.Glu804Ala)
c.*2326A>C (n.*2326A>C)
n.185A>C
c.*1942A>C (n.*1942A>C)
c.2345A>C (p.Glu782Ala)
c.2282A>C (p.Glu761Ala)
n.1316A>C
c.2351A>C (p.Glu784Ala)
1g.6469178C>ACA338118929PLEKHG5c.2113G>T (p.Glu705Ter)
c.2287G>T (p.Glu763Ter)
c.2224G>T (p.Glu742Ter)
n.2589G>T
c.2320G>T (p.Glu774Ter)
c.2410G>T (p.Glu804Ter)
c.*2325G>T (n.*2325G>T)
n.184G>T
c.*1941G>T (n.*1941G>T)
c.2344G>T (p.Glu782Ter)
c.2281G>T (p.Glu761Ter)
n.1315G>T
c.2350G>T (p.Glu784Ter)
1g.6469178C=CA1151520683PLEKHG5c.2113G= (p.Glu705=)
c.2287G= (p.Glu763=)
c.2224G= (p.Glu742=)
n.2589G=
c.2320G= (p.Glu774=)
c.2410G= (p.Glu804=)
c.*2325G= (n.*2325G=)
n.184G=
c.*1941G= (n.*1941G=)
c.2344G= (p.Glu782=)
c.2281G= (p.Glu761=)
n.1315G=
c.2350G= (p.Glu784=)
1g.6469178C>GCA338118933PLEKHG5c.2113G>C (p.Glu705Gln)
c.2287G>C (p.Glu763Gln)
c.2224G>C (p.Glu742Gln)
n.2589G>C
c.2320G>C (p.Glu774Gln)
c.2410G>C (p.Glu804Gln)
c.*2325G>C (n.*2325G>C)
n.184G>C
c.*1941G>C (n.*1941G>C)
c.2344G>C (p.Glu782Gln)
c.2281G>C (p.Glu761Gln)
n.1315G>C
c.2350G>C (p.Glu784Gln)
1g.6469178C>TCA17234996PLEKHG5c.2113G>A (p.Glu705Lys)
c.2287G>A (p.Glu763Lys)
c.2224G>A (p.Glu742Lys)
n.2589G>A
c.2320G>A (p.Glu774Lys)
c.2410G>A (p.Glu804Lys)
c.*2325G>A (n.*2325G>A)
n.184G>A
c.*1941G>A (n.*1941G>A)
c.2344G>A (p.Glu782Lys)
c.2281G>A (p.Glu761Lys)
n.1315G>A
c.2350G>A (p.Glu784Lys)
 ClinVar dbSNP gnomAD v4
1g.6469179C>ACA416022471PLEKHG5c.2112G>T (p.Leu704=)
c.2286G>T (p.Leu762=)
c.2223G>T (p.Leu741=)
n.2588G>T
c.2319G>T (p.Leu773=)
c.2409G>T (p.Leu803=)
c.*2324G>T (n.*2324G>T)
n.183G>T
c.*1940G>T (n.*1940G>T)
c.2343G>T (p.Leu781=)
c.2280G>T (p.Leu760=)
n.1314G>T
c.2349G>T (p.Leu783=)
1g.6469179C=CA1146712596PLEKHG5c.2112G= (p.Leu704=)
c.2286G= (p.Leu762=)
c.2223G= (p.Leu741=)
n.2588G=
c.2319G= (p.Leu773=)
c.2409G= (p.Leu803=)
c.*2324G= (n.*2324G=)
n.183G=
c.*1940G= (n.*1940G=)
c.2343G= (p.Leu781=)
c.2280G= (p.Leu760=)
n.1314G=
c.2349G= (p.Leu783=)
1g.6469179C>GCA416022472PLEKHG5c.2112G>C (p.Leu704=)
c.2286G>C (p.Leu762=)
c.2223G>C (p.Leu741=)
n.2588G>C
c.2319G>C (p.Leu773=)
c.2409G>C (p.Leu803=)
c.*2324G>C (n.*2324G>C)
n.183G>C
c.*1940G>C (n.*1940G>C)
c.2343G>C (p.Leu781=)
c.2280G>C (p.Leu760=)
n.1314G>C
c.2349G>C (p.Leu783=)
1g.6469179C>TCA561251PLEKHG5c.2112G>A (p.Leu704=)
c.2286G>A (p.Leu762=)
c.2223G>A (p.Leu741=)
n.2588G>A
c.2319G>A (p.Leu773=)
c.2409G>A (p.Leu803=)
c.*2324G>A (n.*2324G>A)
n.183G>A
c.*1940G>A (n.*1940G>A)
c.2343G>A (p.Leu781=)
c.2280G>A (p.Leu760=)
n.1314G>A
c.2349G>A (p.Leu783=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6469179_6469180insTCCTCCTGCTCATCCA521018693PLEKHG5c.2112_2113insATGAGCAGGAGGAG (p.Glu705MetfsTer?)
c.2286_2287insATGAGCAGGAGGAG (p.Glu763MetfsTer?)
c.2223_2224insATGAGCAGGAGGAG (p.Glu742MetfsTer?)
n.2588_2589insATGAGCAGGAGGAG
c.2319_2320insATGAGCAGGAGGAG (p.Glu774MetfsTer?)
c.2409_2410insATGAGCAGGAGGAG (p.Glu804MetfsTer?)
c.*2324_*2325insATGAGCAGGAGGAG (n.*2324_*2325insATGAGCAGGAGGAG)
n.183_184insATGAGCAGGAGGAG
c.*1940_*1941insATGAGCAGGAGGAG (n.*1940_*1941insATGAGCAGGAGGAG)
c.2343_2344insATGAGCAGGAGGAG (p.Glu782MetfsTer?)
c.2280_2281insATGAGCAGGAGGAG (p.Glu761MetfsTer?)
n.1314_1315insATGAGCAGGAGGAG
c.2349_2350insATGAGCAGGAGGAG (p.Glu784MetfsTer?)
 dbSNP gnomAD v2
1g.6469179_6469181delinsCAGCA1151520695PLEKHG5c.2110_2112delinsCTG (p.Leu704=)
c.2284_2286delinsCTG (p.Leu762=)
c.2221_2223delinsCTG (p.Leu741=)
n.2586_2588delinsCTG
c.2317_2319delinsCTG (p.Leu773=)
c.2407_2409delinsCTG (p.Leu803=)
c.*2322_*2324delinsCTG (n.*2322_*2324delinsCTG)
n.181_183delinsCTG
c.*1938_*1940delinsCTG (n.*1938_*1940delinsCTG)
c.2341_2343delinsCTG (p.Leu781=)
c.2278_2280delinsCTG (p.Leu760=)
n.1312_1314delinsCTG
c.2347_2349delinsCTG (p.Leu783=)

Number of alleles fetched