Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7467398_7467418delCA2576596228ARHGEF18c.2153_2173del (p.His718_Glu724del)
c.2468_2488del (p.His823_Glu829del)
c.2156_2176del (p.His719_Glu725del)
c.3194_3214del (p.His1065_Glu1071del)
c.2630_2650del (p.His877_Glu883del)
c.1545_1565del
c.2430_2450del
c.3389_3409del (p.His1130_Glu1136del)
c.3146_3166del (p.His1049_Glu1055del)
 gnomAD v4
19g.7467406_7467516delCA2587935237ARHGEF18c.2161_2271del (p.Gln721_Gln757del)
c.2476_2586del (p.Gln826_Gln862del)
c.2164_2274del (p.Gln722_Gln758del)
c.3202_3312del (p.Gln1068_Gln1104del)
c.2638_2748del (p.Gln880_Gln916del)
c.1553_1663del
c.2438_2548del
c.3397_3507del (p.Gln1133_Gln1169del)
c.3154_3264del (p.Gln1052_Gln1088del)
 gnomAD v4
19g.7467410G>ACA9137126ARHGEF18c.2165G>A (p.Arg722His)
c.2480G>A (p.Arg827His)
c.2168G>A (p.Arg723His)
c.3206G>A (p.Arg1069His)
c.2642G>A (p.Arg881His)
c.1557G>A
c.2442G>A
c.3401G>A (p.Arg1134His)
c.3158G>A (p.Arg1053His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7467410G>CCA403088016ARHGEF18c.2165G>C (p.Arg722Pro)
c.2480G>C (p.Arg827Pro)
c.2168G>C (p.Arg723Pro)
c.3206G>C (p.Arg1069Pro)
c.2642G>C (p.Arg881Pro)
c.1557G>C
c.2442G>C
c.3401G>C (p.Arg1134Pro)
c.3158G>C (p.Arg1053Pro)
19g.7467410G=CA2320932334ARHGEF18c.2165G= (p.Arg722=)
c.2480G= (p.Arg827=)
c.2168G= (p.Arg723=)
c.3206G= (p.Arg1069=)
c.2642G= (p.Arg881=)
c.1557G=
c.2442G=
c.3401G= (p.Arg1134=)
c.3158G= (p.Arg1053=)
19g.7467410G>TCA403088023ARHGEF18c.2165G>T (p.Arg722Leu)
c.2480G>T (p.Arg827Leu)
c.2168G>T (p.Arg723Leu)
c.3206G>T (p.Arg1069Leu)
c.2642G>T (p.Arg881Leu)
c.1557G>T
c.2442G>T
c.3401G>T (p.Arg1134Leu)
c.3158G>T (p.Arg1053Leu)
 gnomAD v4
19g.7467411C>ACA505401012ARHGEF18c.2166C>A (p.Arg722=)
c.2481C>A (p.Arg827=)
c.2169C>A (p.Arg723=)
c.3207C>A (p.Arg1069=)
c.2643C>A (p.Arg881=)
c.1558C>A
c.2443C>A
c.3402C>A (p.Arg1134=)
c.3159C>A (p.Arg1053=)
 gnomAD v4
19g.7467411C>GCA505401015ARHGEF18c.2166C>G (p.Arg722=)
c.2481C>G (p.Arg827=)
c.2169C>G (p.Arg723=)
c.3207C>G (p.Arg1069=)
c.2643C>G (p.Arg881=)
c.1558C>G
c.2443C>G
c.3402C>G (p.Arg1134=)
c.3159C>G (p.Arg1053=)
19g.7467411C>TCA505401014ARHGEF18c.2166C>T (p.Arg722=)
c.2481C>T (p.Arg827=)
c.2169C>T (p.Arg723=)
c.3207C>T (p.Arg1069=)
c.2643C>T (p.Arg881=)
c.1558C>T
c.2443C>T
c.3402C>T (p.Arg1134=)
c.3159C>T (p.Arg1053=)
 gnomAD v4
19g.7467412T>ACA403088031ARHGEF18c.2167T>A (p.Trp723Arg)
c.2482T>A (p.Trp828Arg)
c.2170T>A (p.Trp724Arg)
c.3208T>A (p.Trp1070Arg)
c.2644T>A (p.Trp882Arg)
c.1559T>A
c.2444T>A
c.3403T>A (p.Trp1135Arg)
c.3160T>A (p.Trp1054Arg)
19g.7467412T>CCA403088033ARHGEF18c.2167T>C (p.Trp723Arg)
c.2482T>C (p.Trp828Arg)
c.2170T>C (p.Trp724Arg)
c.3208T>C (p.Trp1070Arg)
c.2644T>C (p.Trp882Arg)
c.1559T>C
c.2444T>C
c.3403T>C (p.Trp1135Arg)
c.3160T>C (p.Trp1054Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.7467412T>GCA403088034ARHGEF18c.2167T>G (p.Trp723Gly)
c.2482T>G (p.Trp828Gly)
c.2170T>G (p.Trp724Gly)
c.3208T>G (p.Trp1070Gly)
c.2644T>G (p.Trp882Gly)
c.1559T>G
c.2444T>G
c.3403T>G (p.Trp1135Gly)
c.3160T>G (p.Trp1054Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7467412T=CA2320932335ARHGEF18c.2167T= (p.Trp723=)
c.2482T= (p.Trp828=)
c.2170T= (p.Trp724=)
c.3208T= (p.Trp1070=)
c.2644T= (p.Trp882=)
c.1559T=
c.2444T=
c.3403T= (p.Trp1135=)
c.3160T= (p.Trp1054=)
19g.7467413G>ACA403088036ARHGEF18c.2168G>A (p.Trp723Ter)
c.2483G>A (p.Trp828Ter)
c.2171G>A (p.Trp724Ter)
c.3209G>A (p.Trp1070Ter)
c.2645G>A (p.Trp882Ter)
c.1560G>A
c.2445G>A
c.3404G>A (p.Trp1135Ter)
c.3161G>A (p.Trp1054Ter)
 dbSNP gnomAD v3 gnomAD v4
19g.7467413G>CCA403088043ARHGEF18c.2168G>C (p.Trp723Ser)
c.2483G>C (p.Trp828Ser)
c.2171G>C (p.Trp724Ser)
c.3209G>C (p.Trp1070Ser)
c.2645G>C (p.Trp882Ser)
c.1560G>C
c.2445G>C
c.3404G>C (p.Trp1135Ser)
c.3161G>C (p.Trp1054Ser)
19g.7467413G=CA2320932336ARHGEF18c.2168G= (p.Trp723=)
c.2483G= (p.Trp828=)
c.2171G= (p.Trp724=)
c.3209G= (p.Trp1070=)
c.2645G= (p.Trp882=)
c.1560G=
c.2445G=
c.3404G= (p.Trp1135=)
c.3161G= (p.Trp1054=)
19g.7467413G>TCA403088045ARHGEF18c.2168G>T (p.Trp723Leu)
c.2483G>T (p.Trp828Leu)
c.2171G>T (p.Trp724Leu)
c.3209G>T (p.Trp1070Leu)
c.2645G>T (p.Trp882Leu)
c.1560G>T
c.2445G>T
c.3404G>T (p.Trp1135Leu)
c.3161G>T (p.Trp1054Leu)
 gnomAD v4
19g.7467414G>ACA403088067ARHGEF18c.2169G>A (p.Trp723Ter)
c.2484G>A (p.Trp828Ter)
c.2172G>A (p.Trp724Ter)
c.3210G>A (p.Trp1070Ter)
c.2646G>A (p.Trp882Ter)
c.1561G>A
c.2446G>A
c.3405G>A (p.Trp1135Ter)
c.3162G>A (p.Trp1054Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467414G>CCA403088069ARHGEF18c.2169G>C (p.Trp723Cys)
c.2484G>C (p.Trp828Cys)
c.2172G>C (p.Trp724Cys)
c.3210G>C (p.Trp1070Cys)
c.2646G>C (p.Trp882Cys)
c.1561G>C
c.2446G>C
c.3405G>C (p.Trp1135Cys)
c.3162G>C (p.Trp1054Cys)
19g.7467414G=CA2320932337ARHGEF18c.2169G= (p.Trp723=)
c.2484G= (p.Trp828=)
c.2172G= (p.Trp724=)
c.3210G= (p.Trp1070=)
c.2646G= (p.Trp882=)
c.1561G=
c.2446G=
c.3405G= (p.Trp1135=)
c.3162G= (p.Trp1054=)
19g.7467414G>TCA403088056ARHGEF18c.2169G>T (p.Trp723Cys)
c.2484G>T (p.Trp828Cys)
c.2172G>T (p.Trp724Cys)
c.3210G>T (p.Trp1070Cys)
c.2646G>T (p.Trp882Cys)
c.1561G>T
c.2446G>T
c.3405G>T (p.Trp1135Cys)
c.3162G>T (p.Trp1054Cys)
 gnomAD v4
19g.7467415G>ACA403088070ARHGEF18c.2170G>A (p.Glu724Lys)
c.2485G>A (p.Glu829Lys)
c.2173G>A (p.Glu725Lys)
c.3211G>A (p.Glu1071Lys)
c.2647G>A (p.Glu883Lys)
c.1562G>A
c.2447G>A
c.3406G>A (p.Glu1136Lys)
c.3163G>A (p.Glu1055Lys)
 gnomAD v4 COSMIC COSMIC
19g.7467415G>CCA403088074ARHGEF18c.2170G>C (p.Glu724Gln)
c.2485G>C (p.Glu829Gln)
c.2173G>C (p.Glu725Gln)
c.3211G>C (p.Glu1071Gln)
c.2647G>C (p.Glu883Gln)
c.1562G>C
c.2447G>C
c.3406G>C (p.Glu1136Gln)
c.3163G>C (p.Glu1055Gln)
 gnomAD v4
19g.7467415G>TCA403088082ARHGEF18c.2170G>T (p.Glu724Ter)
c.2485G>T (p.Glu829Ter)
c.2173G>T (p.Glu725Ter)
c.3211G>T (p.Glu1071Ter)
c.2647G>T (p.Glu883Ter)
c.1562G>T
c.2447G>T
c.3406G>T (p.Glu1136Ter)
c.3163G>T (p.Glu1055Ter)
 gnomAD v4
19g.7467416A>CCA403088098ARHGEF18c.2171A>C (p.Glu724Ala)
c.2486A>C (p.Glu829Ala)
c.2174A>C (p.Glu725Ala)
c.3212A>C (p.Glu1071Ala)
c.2648A>C (p.Glu883Ala)
c.1563A>C
c.2448A>C
c.3407A>C (p.Glu1136Ala)
c.3164A>C (p.Glu1055Ala)
19g.7467416A>GCA403088100ARHGEF18c.2171A>G (p.Glu724Gly)
c.2486A>G (p.Glu829Gly)
c.2174A>G (p.Glu725Gly)
c.3212A>G (p.Glu1071Gly)
c.2648A>G (p.Glu883Gly)
c.1563A>G
c.2448A>G
c.3407A>G (p.Glu1136Gly)
c.3164A>G (p.Glu1055Gly)
 gnomAD v4
19g.7467416A>TCA403088101ARHGEF18c.2171A>T (p.Glu724Val)
c.2486A>T (p.Glu829Val)
c.2174A>T (p.Glu725Val)
c.3212A>T (p.Glu1071Val)
c.2648A>T (p.Glu883Val)
c.1563A>T
c.2448A>T
c.3407A>T (p.Glu1136Val)
c.3164A>T (p.Glu1055Val)
19g.7467417G>ACA505401022ARHGEF18c.2172G>A (p.Glu724=)
c.2487G>A (p.Glu829=)
c.2175G>A (p.Glu725=)
c.3213G>A (p.Glu1071=)
c.2649G>A (p.Glu883=)
c.1564G>A
c.2449G>A
c.3408G>A (p.Glu1136=)
c.3165G>A (p.Glu1055=)
 gnomAD v4
19g.7467417G>CCA403088103ARHGEF18c.2172G>C (p.Glu724Asp)
c.2487G>C (p.Glu829Asp)
c.2175G>C (p.Glu725Asp)
c.3213G>C (p.Glu1071Asp)
c.2649G>C (p.Glu883Asp)
c.1564G>C
c.2449G>C
c.3408G>C (p.Glu1136Asp)
c.3165G>C (p.Glu1055Asp)
19g.7467417G>TCA403088107ARHGEF18c.2172G>T (p.Glu724Asp)
c.2487G>T (p.Glu829Asp)
c.2175G>T (p.Glu725Asp)
c.3213G>T (p.Glu1071Asp)
c.2649G>T (p.Glu883Asp)
c.1564G>T
c.2449G>T
c.3408G>T (p.Glu1136Asp)
c.3165G>T (p.Glu1055Asp)
 gnomAD v4
19g.7467418C>ACA403088121ARHGEF18c.2173C>A (p.Arg725Ser)
c.2488C>A (p.Arg830Ser)
c.2176C>A (p.Arg726Ser)
c.3214C>A (p.Arg1072Ser)
c.2650C>A (p.Arg884Ser)
c.1565C>A
c.2450C>A
c.3409C>A (p.Arg1137Ser)
c.3166C>A (p.Arg1056Ser)
 gnomAD v4
19g.7467418C=CA2320932338ARHGEF18c.2173C= (p.Arg725=)
c.2488C= (p.Arg830=)
c.2176C= (p.Arg726=)
c.3214C= (p.Arg1072=)
c.2650C= (p.Arg884=)
c.1565C=
c.2450C=
c.3409C= (p.Arg1137=)
c.3166C= (p.Arg1056=)
19g.7467418C>GCA304856539ARHGEF18c.2173C>G (p.Arg725Gly)
c.2488C>G (p.Arg830Gly)
c.2176C>G (p.Arg726Gly)
c.3214C>G (p.Arg1072Gly)
c.2650C>G (p.Arg884Gly)
c.1565C>G
c.2450C>G
c.3409C>G (p.Arg1137Gly)
c.3166C>G (p.Arg1056Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467418C>TCA403088136ARHGEF18c.2173C>T (p.Arg725Cys)
c.2488C>T (p.Arg830Cys)
c.2176C>T (p.Arg726Cys)
c.3214C>T (p.Arg1072Cys)
c.2650C>T (p.Arg884Cys)
c.1565C>T
c.2450C>T
c.3409C>T (p.Arg1137Cys)
c.3166C>T (p.Arg1056Cys)
 ClinVar gnomAD v4
19g.7467419G>ACA403088138ARHGEF18c.2174G>A (p.Arg725His)
c.2489G>A (p.Arg830His)
c.2177G>A (p.Arg726His)
c.3215G>A (p.Arg1072His)
c.2651G>A (p.Arg884His)
c.1566G>A
c.2451G>A
c.3410G>A (p.Arg1137His)
c.3167G>A (p.Arg1056His)
 gnomAD v4
19g.7467419G>CCA403088142ARHGEF18c.2174G>C (p.Arg725Pro)
c.2489G>C (p.Arg830Pro)
c.2177G>C (p.Arg726Pro)
c.3215G>C (p.Arg1072Pro)
c.2651G>C (p.Arg884Pro)
c.1566G>C
c.2451G>C
c.3410G>C (p.Arg1137Pro)
c.3167G>C (p.Arg1056Pro)
 gnomAD v4
19g.7467419G=CA2320932339ARHGEF18c.2174G= (p.Arg725=)
c.2489G= (p.Arg830=)
c.2177G= (p.Arg726=)
c.3215G= (p.Arg1072=)
c.2651G= (p.Arg884=)
c.1566G=
c.2451G=
c.3410G= (p.Arg1137=)
c.3167G= (p.Arg1056=)
19g.7467419G>TCA403088143ARHGEF18c.2174G>T (p.Arg725Leu)
c.2489G>T (p.Arg830Leu)
c.2177G>T (p.Arg726Leu)
c.3215G>T (p.Arg1072Leu)
c.2651G>T (p.Arg884Leu)
c.1566G>T
c.2451G>T
c.3410G>T (p.Arg1137Leu)
c.3167G>T (p.Arg1056Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.7467420C>ACA505401030ARHGEF18c.2175C>A (p.Arg725=)
c.2490C>A (p.Arg830=)
c.2178C>A (p.Arg726=)
c.3216C>A (p.Arg1072=)
c.2652C>A (p.Arg884=)
c.1567C>A
c.2452C>A
c.3411C>A (p.Arg1137=)
c.3168C>A (p.Arg1056=)
 gnomAD v4
19g.7467420C=CA2320932340ARHGEF18c.2175C= (p.Arg725=)
c.2490C= (p.Arg830=)
c.2178C= (p.Arg726=)
c.3216C= (p.Arg1072=)
c.2652C= (p.Arg884=)
c.1567C=
c.2452C=
c.3411C= (p.Arg1137=)
c.3168C= (p.Arg1056=)
19g.7467420C>GCA505401025ARHGEF18c.2175C>G (p.Arg725=)
c.2490C>G (p.Arg830=)
c.2178C>G (p.Arg726=)
c.3216C>G (p.Arg1072=)
c.2652C>G (p.Arg884=)
c.1567C>G
c.2452C>G
c.3411C>G (p.Arg1137=)
c.3168C>G (p.Arg1056=)
 gnomAD v4
19g.7467420C>TCA505401027ARHGEF18c.2175C>T (p.Arg725=)
c.2490C>T (p.Arg830=)
c.2178C>T (p.Arg726=)
c.3216C>T (p.Arg1072=)
c.2652C>T (p.Arg884=)
c.1567C>T
c.2452C>T
c.3411C>T (p.Arg1137=)
c.3168C>T (p.Arg1056=)
 dbSNP gnomAD v3 gnomAD v4
19g.7467421G>ACA9137127ARHGEF18c.2176G>A (p.Glu726Lys)
c.2491G>A (p.Glu831Lys)
c.2179G>A (p.Glu727Lys)
c.3217G>A (p.Glu1073Lys)
c.2653G>A (p.Glu885Lys)
c.1568G>A
c.2453G>A
c.3412G>A (p.Glu1138Lys)
c.3169G>A (p.Glu1057Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7467421G>CCA403088153ARHGEF18c.2176G>C (p.Glu726Gln)
c.2491G>C (p.Glu831Gln)
c.2179G>C (p.Glu727Gln)
c.3217G>C (p.Glu1073Gln)
c.2653G>C (p.Glu885Gln)
c.1568G>C
c.2453G>C
c.3412G>C (p.Glu1138Gln)
c.3169G>C (p.Glu1057Gln)
 gnomAD v4
19g.7467421G=CA2320932341ARHGEF18c.2176G= (p.Glu726=)
c.2491G= (p.Glu831=)
c.2179G= (p.Glu727=)
c.3217G= (p.Glu1073=)
c.2653G= (p.Glu885=)
c.1568G=
c.2453G=
c.3412G= (p.Glu1138=)
c.3169G= (p.Glu1057=)
19g.7467421G>TCA403088149ARHGEF18c.2176G>T (p.Glu726Ter)
c.2491G>T (p.Glu831Ter)
c.2179G>T (p.Glu727Ter)
c.3217G>T (p.Glu1073Ter)
c.2653G>T (p.Glu885Ter)
c.1568G>T
c.2453G>T
c.3412G>T (p.Glu1138Ter)
c.3169G>T (p.Glu1057Ter)
 gnomAD v4
19g.7467422A>CCA403088156ARHGEF18c.2177A>C (p.Glu726Ala)
c.2492A>C (p.Glu831Ala)
c.2180A>C (p.Glu727Ala)
c.3218A>C (p.Glu1073Ala)
c.2654A>C (p.Glu885Ala)
c.1569A>C
c.2454A>C
c.3413A>C (p.Glu1138Ala)
c.3170A>C (p.Glu1057Ala)
19g.7467422A>GCA403088165ARHGEF18c.2177A>G (p.Glu726Gly)
c.2492A>G (p.Glu831Gly)
c.2180A>G (p.Glu727Gly)
c.3218A>G (p.Glu1073Gly)
c.2654A>G (p.Glu885Gly)
c.1569A>G
c.2454A>G
c.3413A>G (p.Glu1138Gly)
c.3170A>G (p.Glu1057Gly)
19g.7467422A>TCA403088157ARHGEF18c.2177A>T (p.Glu726Val)
c.2492A>T (p.Glu831Val)
c.2180A>T (p.Glu727Val)
c.3218A>T (p.Glu1073Val)
c.2654A>T (p.Glu885Val)
c.1569A>T
c.2454A>T
c.3413A>T (p.Glu1138Val)
c.3170A>T (p.Glu1057Val)
19g.7467423G>ACA505401035ARHGEF18c.2178G>A (p.Glu726=)
c.2493G>A (p.Glu831=)
c.2181G>A (p.Glu727=)
c.3219G>A (p.Glu1073=)
c.2655G>A (p.Glu885=)
c.1570G>A
c.2455G>A
c.3414G>A (p.Glu1138=)
c.3171G>A (p.Glu1057=)
 ClinVar dbSNP gnomAD v4
19g.7467423G>CCA403088183ARHGEF18c.2178G>C (p.Glu726Asp)
c.2493G>C (p.Glu831Asp)
c.2181G>C (p.Glu727Asp)
c.3219G>C (p.Glu1073Asp)
c.2655G>C (p.Glu885Asp)
c.1570G>C
c.2455G>C
c.3414G>C (p.Glu1138Asp)
c.3171G>C (p.Glu1057Asp)
19g.7467423G>TCA403088199ARHGEF18c.2178G>T (p.Glu726Asp)
c.2493G>T (p.Glu831Asp)
c.2181G>T (p.Glu727Asp)
c.3219G>T (p.Glu1073Asp)
c.2655G>T (p.Glu885Asp)
c.1570G>T
c.2455G>T
c.3414G>T (p.Glu1138Asp)
c.3171G>T (p.Glu1057Asp)
 gnomAD v4
19g.7467424C>ACA403088202ARHGEF18c.2179C>A (p.Arg727Ser)
c.2494C>A (p.Arg832Ser)
c.2182C>A (p.Arg728Ser)
c.3220C>A (p.Arg1074Ser)
c.2656C>A (p.Arg886Ser)
c.1571C>A
c.2456C>A
c.3415C>A (p.Arg1139Ser)
c.3172C>A (p.Arg1058Ser)
 gnomAD v4
19g.7467424C>GCA403088206ARHGEF18c.2179C>G (p.Arg727Gly)
c.2494C>G (p.Arg832Gly)
c.2182C>G (p.Arg728Gly)
c.3220C>G (p.Arg1074Gly)
c.2656C>G (p.Arg886Gly)
c.1571C>G
c.2456C>G
c.3415C>G (p.Arg1139Gly)
c.3172C>G (p.Arg1058Gly)
19g.7467424C>TCA403088204ARHGEF18c.2179C>T (p.Arg727Cys)
c.2494C>T (p.Arg832Cys)
c.2182C>T (p.Arg728Cys)
c.3220C>T (p.Arg1074Cys)
c.2656C>T (p.Arg886Cys)
c.1571C>T
c.2456C>T
c.3415C>T (p.Arg1139Cys)
c.3172C>T (p.Arg1058Cys)
 gnomAD v4
19g.7467425G>ACA403088211ARHGEF18c.2180G>A (p.Arg727His)
c.2495G>A (p.Arg832His)
c.2183G>A (p.Arg728His)
c.3221G>A (p.Arg1074His)
c.2657G>A (p.Arg886His)
c.1572G>A
c.2457G>A
c.3416G>A (p.Arg1139His)
c.3173G>A (p.Arg1058His)
 dbSNP gnomAD v4
19g.7467425G>CCA403088217ARHGEF18c.2180G>C (p.Arg727Pro)
c.2495G>C (p.Arg832Pro)
c.2183G>C (p.Arg728Pro)
c.3221G>C (p.Arg1074Pro)
c.2657G>C (p.Arg886Pro)
c.1572G>C
c.2457G>C
c.3416G>C (p.Arg1139Pro)
c.3173G>C (p.Arg1058Pro)
19g.7467425G=CA2320932342ARHGEF18c.2180G= (p.Arg727=)
c.2495G= (p.Arg832=)
c.2183G= (p.Arg728=)
c.3221G= (p.Arg1074=)
c.2657G= (p.Arg886=)
c.1572G=
c.2457G=
c.3416G= (p.Arg1139=)
c.3173G= (p.Arg1058=)
19g.7467425G>TCA403088213ARHGEF18c.2180G>T (p.Arg727Leu)
c.2495G>T (p.Arg832Leu)
c.2183G>T (p.Arg728Leu)
c.3221G>T (p.Arg1074Leu)
c.2657G>T (p.Arg886Leu)
c.1572G>T
c.2457G>T
c.3416G>T (p.Arg1139Leu)
c.3173G>T (p.Arg1058Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.7467426C>ACA505401042ARHGEF18c.2181C>A (p.Arg727=)
c.2496C>A (p.Arg832=)
c.2184C>A (p.Arg728=)
c.3222C>A (p.Arg1074=)
c.2658C>A (p.Arg886=)
c.1573C>A
c.2458C>A
c.3417C>A (p.Arg1139=)
c.3174C>A (p.Arg1058=)
 gnomAD v4
19g.7467426C=CA2320932343ARHGEF18c.2181C= (p.Arg727=)
c.2496C= (p.Arg832=)
c.2184C= (p.Arg728=)
c.3222C= (p.Arg1074=)
c.2658C= (p.Arg886=)
c.1573C=
c.2458C=
c.3417C= (p.Arg1139=)
c.3174C= (p.Arg1058=)
19g.7467426C>GCA505401043ARHGEF18c.2181C>G (p.Arg727=)
c.2496C>G (p.Arg832=)
c.2184C>G (p.Arg728=)
c.3222C>G (p.Arg1074=)
c.2658C>G (p.Arg886=)
c.1573C>G
c.2458C>G
c.3417C>G (p.Arg1139=)
c.3174C>G (p.Arg1058=)
19g.7467426C>TCA505401045ARHGEF18c.2181C>T (p.Arg727=)
c.2496C>T (p.Arg832=)
c.2184C>T (p.Arg728=)
c.3222C>T (p.Arg1074=)
c.2658C>T (p.Arg886=)
c.1573C>T
c.2458C>T
c.3417C>T (p.Arg1139=)
c.3174C>T (p.Arg1058=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7467427C>ACA403088225ARHGEF18c.2182C>A (p.Gln728Lys)
c.2497C>A (p.Gln833Lys)
c.2185C>A (p.Gln729Lys)
c.3223C>A (p.Gln1075Lys)
c.2659C>A (p.Gln887Lys)
c.1574C>A
c.2459C>A
c.3418C>A (p.Gln1140Lys)
c.3175C>A (p.Gln1059Lys)
19g.7467427C>GCA403088230ARHGEF18c.2182C>G (p.Gln728Glu)
c.2497C>G (p.Gln833Glu)
c.2185C>G (p.Gln729Glu)
c.3223C>G (p.Gln1075Glu)
c.2659C>G (p.Gln887Glu)
c.1574C>G
c.2459C>G
c.3418C>G (p.Gln1140Glu)
c.3175C>G (p.Gln1059Glu)
19g.7467427C>TCA403088232ARHGEF18c.2182C>T (p.Gln728Ter)
c.2497C>T (p.Gln833Ter)
c.2185C>T (p.Gln729Ter)
c.3223C>T (p.Gln1075Ter)
c.2659C>T (p.Gln887Ter)
c.1574C>T
c.2459C>T
c.3418C>T (p.Gln1140Ter)
c.3175C>T (p.Gln1059Ter)
19g.7467428A=CA2320932344ARHGEF18c.2183A= (p.Gln728=)
c.2498A= (p.Gln833=)
c.2186A= (p.Gln729=)
c.3224A= (p.Gln1075=)
c.2660A= (p.Gln887=)
c.1575A=
c.2460A=
c.3419A= (p.Gln1140=)
c.3176A= (p.Gln1059=)
19g.7467428A>CCA403088238ARHGEF18c.2183A>C (p.Gln728Pro)
c.2498A>C (p.Gln833Pro)
c.2186A>C (p.Gln729Pro)
c.3224A>C (p.Gln1075Pro)
c.2660A>C (p.Gln887Pro)
c.1575A>C
c.2460A>C
c.3419A>C (p.Gln1140Pro)
c.3176A>C (p.Gln1059Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.7467428A>GCA403088243ARHGEF18c.2183A>G (p.Gln728Arg)
c.2498A>G (p.Gln833Arg)
c.2186A>G (p.Gln729Arg)
c.3224A>G (p.Gln1075Arg)
c.2660A>G (p.Gln887Arg)
c.1575A>G
c.2460A>G
c.3419A>G (p.Gln1140Arg)
c.3176A>G (p.Gln1059Arg)
 ClinVar dbSNP gnomAD v4
19g.7467428A>TCA403088244ARHGEF18c.2183A>T (p.Gln728Leu)
c.2498A>T (p.Gln833Leu)
c.2186A>T (p.Gln729Leu)
c.3224A>T (p.Gln1075Leu)
c.2660A>T (p.Gln887Leu)
c.1575A>T
c.2460A>T
c.3419A>T (p.Gln1140Leu)
c.3176A>T (p.Gln1059Leu)
19g.7467429G>ACA505401049ARHGEF18c.2184G>A (p.Gln728=)
c.2499G>A (p.Gln833=)
c.2187G>A (p.Gln729=)
c.3225G>A (p.Gln1075=)
c.2661G>A (p.Gln887=)
c.1576G>A
c.2461G>A
c.3420G>A (p.Gln1140=)
c.3177G>A (p.Gln1059=)
 gnomAD v4
19g.7467429G>CCA403088245ARHGEF18c.2184G>C (p.Gln728His)
c.2499G>C (p.Gln833His)
c.2187G>C (p.Gln729His)
c.3225G>C (p.Gln1075His)
c.2661G>C (p.Gln887His)
c.1576G>C
c.2461G>C
c.3420G>C (p.Gln1140His)
c.3177G>C (p.Gln1059His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7467429G=CA2320932345ARHGEF18c.2184G= (p.Gln728=)
c.2499G= (p.Gln833=)
c.2187G= (p.Gln729=)
c.3225G= (p.Gln1075=)
c.2661G= (p.Gln887=)
c.1576G=
c.2461G=
c.3420G= (p.Gln1140=)
c.3177G= (p.Gln1059=)
19g.7467429G>TCA403088246ARHGEF18c.2184G>T (p.Gln728His)
c.2499G>T (p.Gln833His)
c.2187G>T (p.Gln729His)
c.3225G>T (p.Gln1075His)
c.2661G>T (p.Gln887His)
c.1576G>T
c.2461G>T
c.3420G>T (p.Gln1140His)
c.3177G>T (p.Gln1059His)
 ClinVar dbSNP gnomAD v4
19g.7467430T>ACA403088252ARHGEF18c.2185T>A (p.Trp729Arg)
c.2500T>A (p.Trp834Arg)
c.2188T>A (p.Trp730Arg)
c.3226T>A (p.Trp1076Arg)
c.2662T>A (p.Trp888Arg)
c.1577T>A
c.2462T>A
c.3421T>A (p.Trp1141Arg)
c.3178T>A (p.Trp1060Arg)
19g.7467430T>CCA403088268ARHGEF18c.2185T>C (p.Trp729Arg)
c.2500T>C (p.Trp834Arg)
c.2188T>C (p.Trp730Arg)
c.3226T>C (p.Trp1076Arg)
c.2662T>C (p.Trp888Arg)
c.1577T>C
c.2462T>C
c.3421T>C (p.Trp1141Arg)
c.3178T>C (p.Trp1060Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.7467430T>GCA403088270ARHGEF18c.2185T>G (p.Trp729Gly)
c.2500T>G (p.Trp834Gly)
c.2188T>G (p.Trp730Gly)
c.3226T>G (p.Trp1076Gly)
c.2662T>G (p.Trp888Gly)
c.1577T>G
c.2462T>G
c.3421T>G (p.Trp1141Gly)
c.3178T>G (p.Trp1060Gly)
19g.7467430T=CA2320932346ARHGEF18c.2185T= (p.Trp729=)
c.2500T= (p.Trp834=)
c.2188T= (p.Trp730=)
c.3226T= (p.Trp1076=)
c.2662T= (p.Trp888=)
c.1577T=
c.2462T=
c.3421T= (p.Trp1141=)
c.3178T= (p.Trp1060=)
19g.7467431G>ACA403088303ARHGEF18c.2186G>A (p.Trp729Ter)
c.2501G>A (p.Trp834Ter)
c.2189G>A (p.Trp730Ter)
c.3227G>A (p.Trp1076Ter)
c.2663G>A (p.Trp888Ter)
c.1578G>A
c.2463G>A
c.3422G>A (p.Trp1141Ter)
c.3179G>A (p.Trp1060Ter)
19g.7467431G>CCA403088285ARHGEF18c.2186G>C (p.Trp729Ser)
c.2501G>C (p.Trp834Ser)
c.2189G>C (p.Trp730Ser)
c.3227G>C (p.Trp1076Ser)
c.2663G>C (p.Trp888Ser)
c.1578G>C
c.2463G>C
c.3422G>C (p.Trp1141Ser)
c.3179G>C (p.Trp1060Ser)
19g.7467431G>TCA403088278ARHGEF18c.2186G>T (p.Trp729Leu)
c.2501G>T (p.Trp834Leu)
c.2189G>T (p.Trp730Leu)
c.3227G>T (p.Trp1076Leu)
c.2663G>T (p.Trp888Leu)
c.1578G>T
c.2463G>T
c.3422G>T (p.Trp1141Leu)
c.3179G>T (p.Trp1060Leu)
 gnomAD v4
19g.7467432G>ACA403088309ARHGEF18c.2187G>A (p.Trp729Ter)
c.2502G>A (p.Trp834Ter)
c.2190G>A (p.Trp730Ter)
c.3228G>A (p.Trp1076Ter)
c.2664G>A (p.Trp888Ter)
c.1579G>A
c.2464G>A
c.3423G>A (p.Trp1141Ter)
c.3180G>A (p.Trp1060Ter)
19g.7467432G>CCA403088310ARHGEF18c.2187G>C (p.Trp729Cys)
c.2502G>C (p.Trp834Cys)
c.2190G>C (p.Trp730Cys)
c.3228G>C (p.Trp1076Cys)
c.2664G>C (p.Trp888Cys)
c.1579G>C
c.2464G>C
c.3423G>C (p.Trp1141Cys)
c.3180G>C (p.Trp1060Cys)
19g.7467432G>TCA403088311ARHGEF18c.2187G>T (p.Trp729Cys)
c.2502G>T (p.Trp834Cys)
c.2190G>T (p.Trp730Cys)
c.3228G>T (p.Trp1076Cys)
c.2664G>T (p.Trp888Cys)
c.1579G>T
c.2464G>T
c.3423G>T (p.Trp1141Cys)
c.3180G>T (p.Trp1060Cys)
 gnomAD v4
19g.7467433C>ACA403088312ARHGEF18c.2188C>A (p.Gln730Lys)
c.2503C>A (p.Gln835Lys)
c.2191C>A (p.Gln731Lys)
c.3229C>A (p.Gln1077Lys)
c.2665C>A (p.Gln889Lys)
c.1580C>A
c.2465C>A
c.3424C>A (p.Gln1142Lys)
c.3181C>A (p.Gln1061Lys)
 gnomAD v4
19g.7467433C>GCA403088314ARHGEF18c.2188C>G (p.Gln730Glu)
c.2503C>G (p.Gln835Glu)
c.2191C>G (p.Gln731Glu)
c.3229C>G (p.Gln1077Glu)
c.2665C>G (p.Gln889Glu)
c.1580C>G
c.2465C>G
c.3424C>G (p.Gln1142Glu)
c.3181C>G (p.Gln1061Glu)
19g.7467433C>TCA403088317ARHGEF18c.2188C>T (p.Gln730Ter)
c.2503C>T (p.Gln835Ter)
c.2191C>T (p.Gln731Ter)
c.3229C>T (p.Gln1077Ter)
c.2665C>T (p.Gln889Ter)
c.1580C>T
c.2465C>T
c.3424C>T (p.Gln1142Ter)
c.3181C>T (p.Gln1061Ter)
 gnomAD v4
19g.7467434A>CCA403088325ARHGEF18c.2189A>C (p.Gln730Pro)
c.2504A>C (p.Gln835Pro)
c.2192A>C (p.Gln731Pro)
c.3230A>C (p.Gln1077Pro)
c.2666A>C (p.Gln889Pro)
c.1581A>C
c.2466A>C
c.3425A>C (p.Gln1142Pro)
c.3182A>C (p.Gln1061Pro)
19g.7467434A>GCA403088333ARHGEF18c.2189A>G (p.Gln730Arg)
c.2504A>G (p.Gln835Arg)
c.2192A>G (p.Gln731Arg)
c.3230A>G (p.Gln1077Arg)
c.2666A>G (p.Gln889Arg)
c.1581A>G
c.2466A>G
c.3425A>G (p.Gln1142Arg)
c.3182A>G (p.Gln1061Arg)
19g.7467434A>TCA403088338ARHGEF18c.2189A>T (p.Gln730Leu)
c.2504A>T (p.Gln835Leu)
c.2192A>T (p.Gln731Leu)
c.3230A>T (p.Gln1077Leu)
c.2666A>T (p.Gln889Leu)
c.1581A>T
c.2466A>T
c.3425A>T (p.Gln1142Leu)
c.3182A>T (p.Gln1061Leu)
19g.7467435G>ACA505401058ARHGEF18c.2190G>A (p.Gln730=)
c.2505G>A (p.Gln835=)
c.2193G>A (p.Gln731=)
c.3231G>A (p.Gln1077=)
c.2667G>A (p.Gln889=)
c.1582G>A
c.2467G>A
c.3426G>A (p.Gln1142=)
c.3183G>A (p.Gln1061=)
 gnomAD v4
19g.7467435G>CCA403088343ARHGEF18c.2190G>C (p.Gln730His)
c.2505G>C (p.Gln835His)
c.2193G>C (p.Gln731His)
c.3231G>C (p.Gln1077His)
c.2667G>C (p.Gln889His)
c.1582G>C
c.2467G>C
c.3426G>C (p.Gln1142His)
c.3183G>C (p.Gln1061His)
 dbSNP gnomAD v3 gnomAD v4
19g.7467435G=CA2320932347ARHGEF18c.2190G= (p.Gln730=)
c.2505G= (p.Gln835=)
c.2193G= (p.Gln731=)
c.3231G= (p.Gln1077=)
c.2667G= (p.Gln889=)
c.1582G=
c.2467G=
c.3426G= (p.Gln1142=)
c.3183G= (p.Gln1061=)
19g.7467435G>TCA403088344ARHGEF18c.2190G>T (p.Gln730His)
c.2505G>T (p.Gln835His)
c.2193G>T (p.Gln731His)
c.3231G>T (p.Gln1077His)
c.2667G>T (p.Gln889His)
c.1582G>T
c.2467G>T
c.3426G>T (p.Gln1142His)
c.3183G>T (p.Gln1061His)
19g.7467436C>ACA403088368ARHGEF18c.2191C>A (p.His731Asn)
c.2506C>A (p.His836Asn)
c.2194C>A (p.His732Asn)
c.3232C>A (p.His1078Asn)
c.2668C>A (p.His890Asn)
c.1583C>A
c.2468C>A
c.3427C>A (p.His1143Asn)
c.3184C>A (p.His1062Asn)
 gnomAD v4
19g.7467436C>GCA403088360ARHGEF18c.2191C>G (p.His731Asp)
c.2506C>G (p.His836Asp)
c.2194C>G (p.His732Asp)
c.3232C>G (p.His1078Asp)
c.2668C>G (p.His890Asp)
c.1583C>G
c.2468C>G
c.3427C>G (p.His1143Asp)
c.3184C>G (p.His1062Asp)
19g.7467436C>TCA403088347ARHGEF18c.2191C>T (p.His731Tyr)
c.2506C>T (p.His836Tyr)
c.2194C>T (p.His732Tyr)
c.3232C>T (p.His1078Tyr)
c.2668C>T (p.His890Tyr)
c.1583C>T
c.2468C>T
c.3427C>T (p.His1143Tyr)
c.3184C>T (p.His1062Tyr)
19g.7467437A>CCA403088372ARHGEF18c.2192A>C (p.His731Pro)
c.2507A>C (p.His836Pro)
c.2195A>C (p.His732Pro)
c.3233A>C (p.His1078Pro)
c.2669A>C (p.His890Pro)
c.1584A>C
c.2469A>C
c.3428A>C (p.His1143Pro)
c.3185A>C (p.His1062Pro)
 COSMIC COSMIC
19g.7467437A>GCA403088376ARHGEF18c.2192A>G (p.His731Arg)
c.2507A>G (p.His836Arg)
c.2195A>G (p.His732Arg)
c.3233A>G (p.His1078Arg)
c.2669A>G (p.His890Arg)
c.1584A>G
c.2469A>G
c.3428A>G (p.His1143Arg)
c.3185A>G (p.His1062Arg)
19g.7467437A>TCA403088388ARHGEF18c.2192A>T (p.His731Leu)
c.2507A>T (p.His836Leu)
c.2195A>T (p.His732Leu)
c.3233A>T (p.His1078Leu)
c.2669A>T (p.His890Leu)
c.1584A>T
c.2469A>T
c.3428A>T (p.His1143Leu)
c.3185A>T (p.His1062Leu)
19g.7467438C>ACA403088392ARHGEF18c.2193C>A (p.His731Gln)
c.2508C>A (p.His836Gln)
c.2196C>A (p.His732Gln)
c.3234C>A (p.His1078Gln)
c.2670C>A (p.His890Gln)
c.1585C>A
c.2470C>A
c.3429C>A (p.His1143Gln)
c.3186C>A (p.His1062Gln)
 gnomAD v4
19g.7467438C>GCA403088396ARHGEF18c.2193C>G (p.His731Gln)
c.2508C>G (p.His836Gln)
c.2196C>G (p.His732Gln)
c.3234C>G (p.His1078Gln)
c.2670C>G (p.His890Gln)
c.1585C>G
c.2470C>G
c.3429C>G (p.His1143Gln)
c.3186C>G (p.His1062Gln)
 gnomAD v4
19g.7467438C>TCA505401064ARHGEF18c.2193C>T (p.His731=)
c.2508C>T (p.His836=)
c.2196C>T (p.His732=)
c.3234C>T (p.His1078=)
c.2670C>T (p.His890=)
c.1585C>T
c.2470C>T
c.3429C>T (p.His1143=)
c.3186C>T (p.His1062=)
19g.7467439C>ACA403088402ARHGEF18c.2194C>A (p.Gln732Lys)
c.2509C>A (p.Gln837Lys)
c.2197C>A (p.Gln733Lys)
c.3235C>A (p.Gln1079Lys)
c.2671C>A (p.Gln891Lys)
c.1586C>A
c.2471C>A
c.3430C>A (p.Gln1144Lys)
c.3187C>A (p.Gln1063Lys)
 gnomAD v4
19g.7467439C>GCA403088406ARHGEF18c.2194C>G (p.Gln732Glu)
c.2509C>G (p.Gln837Glu)
c.2197C>G (p.Gln733Glu)
c.3235C>G (p.Gln1079Glu)
c.2671C>G (p.Gln891Glu)
c.1586C>G
c.2471C>G
c.3430C>G (p.Gln1144Glu)
c.3187C>G (p.Gln1063Glu)
 ClinVar dbSNP
19g.7467439C>TCA403088411ARHGEF18c.2194C>T (p.Gln732Ter)
c.2509C>T (p.Gln837Ter)
c.2197C>T (p.Gln733Ter)
c.3235C>T (p.Gln1079Ter)
c.2671C>T (p.Gln891Ter)
c.1586C>T
c.2471C>T
c.3430C>T (p.Gln1144Ter)
c.3187C>T (p.Gln1063Ter)
 gnomAD v4
19g.7467440A>CCA403088418ARHGEF18c.2195A>C (p.Gln732Pro)
c.2510A>C (p.Gln837Pro)
c.2198A>C (p.Gln733Pro)
c.3236A>C (p.Gln1079Pro)
c.2672A>C (p.Gln891Pro)
c.1587A>C
c.2472A>C
c.3431A>C (p.Gln1144Pro)
c.3188A>C (p.Gln1063Pro)
19g.7467440A>GCA403088419ARHGEF18c.2195A>G (p.Gln732Arg)
c.2510A>G (p.Gln837Arg)
c.2198A>G (p.Gln733Arg)
c.3236A>G (p.Gln1079Arg)
c.2672A>G (p.Gln891Arg)
c.1587A>G
c.2472A>G
c.3431A>G (p.Gln1144Arg)
c.3188A>G (p.Gln1063Arg)
 gnomAD v4
19g.7467440A>TCA403088425ARHGEF18c.2195A>T (p.Gln732Leu)
c.2510A>T (p.Gln837Leu)
c.2198A>T (p.Gln733Leu)
c.3236A>T (p.Gln1079Leu)
c.2672A>T (p.Gln891Leu)
c.1587A>T
c.2472A>T
c.3431A>T (p.Gln1144Leu)
c.3188A>T (p.Gln1063Leu)
19g.7467441G>ACA505401065ARHGEF18c.2196G>A (p.Gln732=)
c.2511G>A (p.Gln837=)
c.2199G>A (p.Gln733=)
c.3237G>A (p.Gln1079=)
c.2673G>A (p.Gln891=)
c.1588G>A
c.2473G>A
c.3432G>A (p.Gln1144=)
c.3189G>A (p.Gln1063=)
 dbSNP
19g.7467441G>CCA403088431ARHGEF18c.2196G>C (p.Gln732His)
c.2511G>C (p.Gln837His)
c.2199G>C (p.Gln733His)
c.3237G>C (p.Gln1079His)
c.2673G>C (p.Gln891His)
c.1588G>C
c.2473G>C
c.3432G>C (p.Gln1144His)
c.3189G>C (p.Gln1063His)
19g.7467441G>TCA403088432ARHGEF18c.2196G>T (p.Gln732His)
c.2511G>T (p.Gln837His)
c.2199G>T (p.Gln733His)
c.3237G>T (p.Gln1079His)
c.2673G>T (p.Gln891His)
c.1588G>T
c.2473G>T
c.3432G>T (p.Gln1144His)
c.3189G>T (p.Gln1063His)
19g.7467442G>ACA403088433ARHGEF18c.2197G>A (p.Glu733Lys)
c.2512G>A (p.Glu838Lys)
c.2200G>A (p.Glu734Lys)
c.3238G>A (p.Glu1080Lys)
c.2674G>A (p.Glu892Lys)
c.1589G>A
c.2474G>A
c.3433G>A (p.Glu1145Lys)
c.3190G>A (p.Glu1064Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7467442G>CCA403088436ARHGEF18c.2197G>C (p.Glu733Gln)
c.2512G>C (p.Glu838Gln)
c.2200G>C (p.Glu734Gln)
c.3238G>C (p.Glu1080Gln)
c.2674G>C (p.Glu892Gln)
c.1589G>C
c.2474G>C
c.3433G>C (p.Glu1145Gln)
c.3190G>C (p.Glu1064Gln)
 gnomAD v4
19g.7467442G=CA2320932348ARHGEF18c.2197G= (p.Glu733=)
c.2512G= (p.Glu838=)
c.2200G= (p.Glu734=)
c.3238G= (p.Glu1080=)
c.2674G= (p.Glu892=)
c.1589G=
c.2474G=
c.3433G= (p.Glu1145=)
c.3190G= (p.Glu1064=)
19g.7467442G>TCA403088434ARHGEF18c.2197G>T (p.Glu733Ter)
c.2512G>T (p.Glu838Ter)
c.2200G>T (p.Glu734Ter)
c.3238G>T (p.Glu1080Ter)
c.2674G>T (p.Glu892Ter)
c.1589G>T
c.2474G>T
c.3433G>T (p.Glu1145Ter)
c.3190G>T (p.Glu1064Ter)
19g.7467453_7467536delCA2587935238ARHGEF18c.2208_2291del (p.Ala737_Arg764del)
c.2523_2606del (p.Ala842_Arg869del)
c.2211_2294del (p.Ala738_Arg765del)
c.3249_3332del (p.Ala1084_Arg1111del)
c.2685_2768del (p.Ala896_Arg923del)
c.1600_1683del
c.2485_2568del
c.3444_3527del (p.Ala1149_Arg1176del)
c.3201_3284del (p.Ala1068_Arg1095del)
 gnomAD v4
19g.7467443A>CCA403088439ARHGEF18c.2198A>C (p.Glu733Ala)
c.2513A>C (p.Glu838Ala)
c.2201A>C (p.Glu734Ala)
c.3239A>C (p.Glu1080Ala)
c.2675A>C (p.Glu892Ala)
c.1590A>C
c.2475A>C
c.3434A>C (p.Glu1145Ala)
c.3191A>C (p.Glu1064Ala)
19g.7467443A>GCA403088440ARHGEF18c.2198A>G (p.Glu733Gly)
c.2513A>G (p.Glu838Gly)
c.2201A>G (p.Glu734Gly)
c.3239A>G (p.Glu1080Gly)
c.2675A>G (p.Glu892Gly)
c.1590A>G
c.2475A>G
c.3434A>G (p.Glu1145Gly)
c.3191A>G (p.Glu1064Gly)
19g.7467443A>TCA403088442ARHGEF18c.2198A>T (p.Glu733Val)
c.2513A>T (p.Glu838Val)
c.2201A>T (p.Glu734Val)
c.3239A>T (p.Glu1080Val)
c.2675A>T (p.Glu892Val)
c.1590A>T
c.2475A>T
c.3434A>T (p.Glu1145Val)
c.3191A>T (p.Glu1064Val)
19g.7467444G>ACA505401067ARHGEF18c.2199G>A (p.Glu733=)
c.2514G>A (p.Glu838=)
c.2202G>A (p.Glu734=)
c.3240G>A (p.Glu1080=)
c.2676G>A (p.Glu892=)
c.1591G>A
c.2476G>A
c.3435G>A (p.Glu1145=)
c.3192G>A (p.Glu1064=)
 gnomAD v4
19g.7467444G>CCA403088447ARHGEF18c.2199G>C (p.Glu733Asp)
c.2514G>C (p.Glu838Asp)
c.2202G>C (p.Glu734Asp)
c.3240G>C (p.Glu1080Asp)
c.2676G>C (p.Glu892Asp)
c.1591G>C
c.2476G>C
c.3435G>C (p.Glu1145Asp)
c.3192G>C (p.Glu1064Asp)
19g.7467444G>TCA403088451ARHGEF18c.2199G>T (p.Glu733Asp)
c.2514G>T (p.Glu838Asp)
c.2202G>T (p.Glu734Asp)
c.3240G>T (p.Glu1080Asp)
c.2676G>T (p.Glu892Asp)
c.1591G>T
c.2476G>T
c.3435G>T (p.Glu1145Asp)
c.3192G>T (p.Glu1064Asp)
 gnomAD v4
19g.7467445C>ACA403088453ARHGEF18c.2200C>A (p.Leu734Met)
c.2515C>A (p.Leu839Met)
c.2203C>A (p.Leu735Met)
c.3241C>A (p.Leu1081Met)
c.2677C>A (p.Leu893Met)
c.1592C>A
c.2477C>A
c.3436C>A (p.Leu1146Met)
c.3193C>A (p.Leu1065Met)
 gnomAD v4
19g.7467445C=CA2320932349ARHGEF18c.2200C= (p.Leu734=)
c.2515C= (p.Leu839=)
c.2203C= (p.Leu735=)
c.3241C= (p.Leu1081=)
c.2677C= (p.Leu893=)
c.1592C=
c.2477C=
c.3436C= (p.Leu1146=)
c.3193C= (p.Leu1065=)
19g.7467445C>GCA403088457ARHGEF18c.2200C>G (p.Leu734Val)
c.2515C>G (p.Leu839Val)
c.2203C>G (p.Leu735Val)
c.3241C>G (p.Leu1081Val)
c.2677C>G (p.Leu893Val)
c.1592C>G
c.2477C>G
c.3436C>G (p.Leu1146Val)
c.3193C>G (p.Leu1065Val)
19g.7467445C>TCA505401068ARHGEF18c.2200C>T (p.Leu734=)
c.2515C>T (p.Leu839=)
c.2203C>T (p.Leu735=)
c.3241C>T (p.Leu1081=)
c.2677C>T (p.Leu893=)
c.1592C>T
c.2477C>T
c.3436C>T (p.Leu1146=)
c.3193C>T (p.Leu1065=)
 ClinVar dbSNP gnomAD v4
19g.7467446T>ACA403088464ARHGEF18c.2201T>A (p.Leu734Gln)
c.2516T>A (p.Leu839Gln)
c.2204T>A (p.Leu735Gln)
c.3242T>A (p.Leu1081Gln)
c.2678T>A (p.Leu893Gln)
c.1593T>A
c.2478T>A
c.3437T>A (p.Leu1146Gln)
c.3194T>A (p.Leu1065Gln)
19g.7467446T>CCA403088466ARHGEF18c.2201T>C (p.Leu734Pro)
c.2516T>C (p.Leu839Pro)
c.2204T>C (p.Leu735Pro)
c.3242T>C (p.Leu1081Pro)
c.2678T>C (p.Leu893Pro)
c.1593T>C
c.2478T>C
c.3437T>C (p.Leu1146Pro)
c.3194T>C (p.Leu1065Pro)
 ClinVar gnomAD v4
19g.7467446T>GCA9137128ARHGEF18c.2201T>G (p.Leu734Arg)
c.2516T>G (p.Leu839Arg)
c.2204T>G (p.Leu735Arg)
c.3242T>G (p.Leu1081Arg)
c.2678T>G (p.Leu893Arg)
c.1593T>G
c.2478T>G
c.3437T>G (p.Leu1146Arg)
c.3194T>G (p.Leu1065Arg)
 dbSNP ExAC gnomAD v2
19g.7467446T=CA2320932350ARHGEF18c.2201T= (p.Leu734=)
c.2516T= (p.Leu839=)
c.2204T= (p.Leu735=)
c.3242T= (p.Leu1081=)
c.2678T= (p.Leu893=)
c.1593T=
c.2478T=
c.3437T= (p.Leu1146=)
c.3194T= (p.Leu1065=)
19g.7467447G>ACA505401069ARHGEF18c.2202G>A (p.Leu734=)
c.2517G>A (p.Leu839=)
c.2205G>A (p.Leu735=)
c.3243G>A (p.Leu1081=)
c.2679G>A (p.Leu893=)
c.1594G>A
c.2479G>A
c.3438G>A (p.Leu1146=)
c.3195G>A (p.Leu1065=)
 ClinVar
19g.7467447G>CCA505401072ARHGEF18c.2202G>C (p.Leu734=)
c.2517G>C (p.Leu839=)
c.2205G>C (p.Leu735=)
c.3243G>C (p.Leu1081=)
c.2679G>C (p.Leu893=)
c.1594G>C
c.2479G>C
c.3438G>C (p.Leu1146=)
c.3195G>C (p.Leu1065=)
 dbSNP gnomAD v2 gnomAD v4
19g.7467447G=CA2320932351ARHGEF18c.2202G= (p.Leu734=)
c.2517G= (p.Leu839=)
c.2205G= (p.Leu735=)
c.3243G= (p.Leu1081=)
c.2679G= (p.Leu893=)
c.1594G=
c.2479G=
c.3438G= (p.Leu1146=)
c.3195G= (p.Leu1065=)
19g.7467447G>TCA505401071ARHGEF18c.2202G>T (p.Leu734=)
c.2517G>T (p.Leu839=)
c.2205G>T (p.Leu735=)
c.3243G>T (p.Leu1081=)
c.2679G>T (p.Leu893=)
c.1594G>T
c.2479G>T
c.3438G>T (p.Leu1146=)
c.3195G>T (p.Leu1065=)
19g.7467453_7467476delCA2573155889ARHGEF18c.2208_2231del (p.Ala737_Arg744del)
c.2523_2546del (p.Ala842_Arg849del)
c.2211_2234del (p.Ala738_Arg745del)
c.3249_3272del (p.Ala1084_Arg1091del)
c.2685_2708del (p.Ala896_Arg903del)
c.1600_1623del
c.2485_2508del
c.3444_3467del (p.Ala1149_Arg1156del)
c.3201_3224del (p.Ala1068_Arg1075del)
 ClinVar dbSNP
19g.7467448G>ACA403088478ARHGEF18c.2203G>A (p.Glu735Lys)
c.2518G>A (p.Glu840Lys)
c.2206G>A (p.Glu736Lys)
c.3244G>A (p.Glu1082Lys)
c.2680G>A (p.Glu894Lys)
c.1595G>A
c.2480G>A
c.3439G>A (p.Glu1147Lys)
c.3196G>A (p.Glu1066Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.7467448G>CCA403088475ARHGEF18c.2203G>C (p.Glu735Gln)
c.2518G>C (p.Glu840Gln)
c.2206G>C (p.Glu736Gln)
c.3244G>C (p.Glu1082Gln)
c.2680G>C (p.Glu894Gln)
c.1595G>C
c.2480G>C
c.3439G>C (p.Glu1147Gln)
c.3196G>C (p.Glu1066Gln)
 gnomAD v4
19g.7467448G=CA2320932352ARHGEF18c.2203G= (p.Glu735=)
c.2518G= (p.Glu840=)
c.2206G= (p.Glu736=)
c.3244G= (p.Glu1082=)
c.2680G= (p.Glu894=)
c.1595G=
c.2480G=
c.3439G= (p.Glu1147=)
c.3196G= (p.Glu1066=)
19g.7467448G>TCA403088472ARHGEF18c.2203G>T (p.Glu735Ter)
c.2518G>T (p.Glu840Ter)
c.2206G>T (p.Glu736Ter)
c.3244G>T (p.Glu1082Ter)
c.2680G>T (p.Glu894Ter)
c.1595G>T
c.2480G>T
c.3439G>T (p.Glu1147Ter)
c.3196G>T (p.Glu1066Ter)
 gnomAD v4
19g.7467449A=CA2320932353ARHGEF18c.2204A= (p.Glu735=)
c.2519A= (p.Glu840=)
c.2207A= (p.Glu736=)
c.3245A= (p.Glu1082=)
c.2681A= (p.Glu894=)
c.1596A=
c.2481A=
c.3440A= (p.Glu1147=)
c.3197A= (p.Glu1066=)
19g.7467449A>CCA403088481ARHGEF18c.2204A>C (p.Glu735Ala)
c.2519A>C (p.Glu840Ala)
c.2207A>C (p.Glu736Ala)
c.3245A>C (p.Glu1082Ala)
c.2681A>C (p.Glu894Ala)
c.1596A>C
c.2481A>C
c.3440A>C (p.Glu1147Ala)
c.3197A>C (p.Glu1066Ala)
19g.7467449A>GCA403088484ARHGEF18c.2204A>G (p.Glu735Gly)
c.2519A>G (p.Glu840Gly)
c.2207A>G (p.Glu736Gly)
c.3245A>G (p.Glu1082Gly)
c.2681A>G (p.Glu894Gly)
c.1596A>G
c.2481A>G
c.3440A>G (p.Glu1147Gly)
c.3197A>G (p.Glu1066Gly)
19g.7467449A>TCA304856555ARHGEF18c.2204A>T (p.Glu735Val)
c.2519A>T (p.Glu840Val)
c.2207A>T (p.Glu736Val)
c.3245A>T (p.Glu1082Val)
c.2681A>T (p.Glu894Val)
c.1596A>T
c.2481A>T
c.3440A>T (p.Glu1147Val)
c.3197A>T (p.Glu1066Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467450G>ACA505401077ARHGEF18c.2205G>A (p.Glu735=)
c.2520G>A (p.Glu840=)
c.2208G>A (p.Glu736=)
c.3246G>A (p.Glu1082=)
c.2682G>A (p.Glu894=)
c.1597G>A
c.2482G>A
c.3441G>A (p.Glu1147=)
c.3198G>A (p.Glu1066=)
19g.7467450G>CCA403088494ARHGEF18c.2205G>C (p.Glu735Asp)
c.2520G>C (p.Glu840Asp)
c.2208G>C (p.Glu736Asp)
c.3246G>C (p.Glu1082Asp)
c.2682G>C (p.Glu894Asp)
c.1597G>C
c.2482G>C
c.3441G>C (p.Glu1147Asp)
c.3198G>C (p.Glu1066Asp)
19g.7467450G=CA2320932354ARHGEF18c.2205G= (p.Glu735=)
c.2520G= (p.Glu840=)
c.2208G= (p.Glu736=)
c.3246G= (p.Glu1082=)
c.2682G= (p.Glu894=)
c.1597G=
c.2482G=
c.3441G= (p.Glu1147=)
c.3198G= (p.Glu1066=)
19g.7467450G>TCA403088496ARHGEF18c.2205G>T (p.Glu735Asp)
c.2520G>T (p.Glu840Asp)
c.2208G>T (p.Glu736Asp)
c.3246G>T (p.Glu1082Asp)
c.2682G>T (p.Glu894Asp)
c.1597G>T
c.2482G>T
c.3441G>T (p.Glu1147Asp)
c.3198G>T (p.Glu1066Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.7467451C>ACA403088500ARHGEF18c.2206C>A (p.Arg736Ser)
c.2521C>A (p.Arg841Ser)
c.2209C>A (p.Arg737Ser)
c.3247C>A (p.Arg1083Ser)
c.2683C>A (p.Arg895Ser)
c.1598C>A
c.2483C>A
c.3442C>A (p.Arg1148Ser)
c.3199C>A (p.Arg1067Ser)
 gnomAD v4
19g.7467451C=CA2320932355ARHGEF18c.2206C= (p.Arg736=)
c.2521C= (p.Arg841=)
c.2209C= (p.Arg737=)
c.3247C= (p.Arg1083=)
c.2683C= (p.Arg895=)
c.1598C=
c.2483C=
c.3442C= (p.Arg1148=)
c.3199C= (p.Arg1067=)
19g.7467451C>GCA403088503ARHGEF18c.2206C>G (p.Arg736Gly)
c.2521C>G (p.Arg841Gly)
c.2209C>G (p.Arg737Gly)
c.3247C>G (p.Arg1083Gly)
c.2683C>G (p.Arg895Gly)
c.1598C>G
c.2483C>G
c.3442C>G (p.Arg1148Gly)
c.3199C>G (p.Arg1067Gly)
19g.7467451C>TCA403088504ARHGEF18c.2206C>T (p.Arg736Cys)
c.2521C>T (p.Arg841Cys)
c.2209C>T (p.Arg737Cys)
c.3247C>T (p.Arg1083Cys)
c.2683C>T (p.Arg895Cys)
c.1598C>T
c.2483C>T
c.3442C>T (p.Arg1148Cys)
c.3199C>T (p.Arg1067Cys)
 dbSNP gnomAD v2 gnomAD v4
19g.7467452G>ACA403088507ARHGEF18c.2207G>A (p.Arg736His)
c.2522G>A (p.Arg841His)
c.2210G>A (p.Arg737His)
c.3248G>A (p.Arg1083His)
c.2684G>A (p.Arg895His)
c.1599G>A
c.2484G>A
c.3443G>A (p.Arg1148His)
c.3200G>A (p.Arg1067His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7467452G>CCA403088510ARHGEF18c.2207G>C (p.Arg736Pro)
c.2522G>C (p.Arg841Pro)
c.2210G>C (p.Arg737Pro)
c.3248G>C (p.Arg1083Pro)
c.2684G>C (p.Arg895Pro)
c.1599G>C
c.2484G>C
c.3443G>C (p.Arg1148Pro)
c.3200G>C (p.Arg1067Pro)
19g.7467452G=CA2320932356ARHGEF18c.2207G= (p.Arg736=)
c.2522G= (p.Arg841=)
c.2210G= (p.Arg737=)
c.3248G= (p.Arg1083=)
c.2684G= (p.Arg895=)
c.1599G=
c.2484G=
c.3443G= (p.Arg1148=)
c.3200G= (p.Arg1067=)
19g.7467452G>TCA403088513ARHGEF18c.2207G>T (p.Arg736Leu)
c.2522G>T (p.Arg841Leu)
c.2210G>T (p.Arg737Leu)
c.3248G>T (p.Arg1083Leu)
c.2684G>T (p.Arg895Leu)
c.1599G>T
c.2484G>T
c.3443G>T (p.Arg1148Leu)
c.3200G>T (p.Arg1067Leu)
 dbSNP
19g.7467453T>ACA505401080ARHGEF18c.2208T>A (p.Arg736=)
c.2523T>A (p.Arg841=)
c.2211T>A (p.Arg737=)
c.3249T>A (p.Arg1083=)
c.2685T>A (p.Arg895=)
c.1600T>A
c.2485T>A
c.3444T>A (p.Arg1148=)
c.3201T>A (p.Arg1067=)
19g.7467453T>CCA505401083ARHGEF18c.2208T>C (p.Arg736=)
c.2523T>C (p.Arg841=)
c.2211T>C (p.Arg737=)
c.3249T>C (p.Arg1083=)
c.2685T>C (p.Arg895=)
c.1600T>C
c.2485T>C
c.3444T>C (p.Arg1148=)
c.3201T>C (p.Arg1067=)
19g.7467453T>GCA505401082ARHGEF18c.2208T>G (p.Arg736=)
c.2523T>G (p.Arg841=)
c.2211T>G (p.Arg737=)
c.3249T>G (p.Arg1083=)
c.2685T>G (p.Arg895=)
c.1600T>G
c.2485T>G
c.3444T>G (p.Arg1148=)
c.3201T>G (p.Arg1067=)
19g.7467453_7467461delinsTGCGGGCGCCA2320932357ARHGEF18c.2208_2216delinsTGCGGGCGC (p.Arg736=)
c.2523_2531delinsTGCGGGCGC (p.Arg841=)
c.2211_2219delinsTGCGGGCGC (p.Arg737=)
c.3249_3257delinsTGCGGGCGC (p.Arg1083=)
c.2685_2693delinsTGCGGGCGC (p.Arg895=)
c.1600_1608delinsTGCGGGCGC
c.2485_2493delinsTGCGGGCGC
c.3444_3452delinsTGCGGGCGC (p.Arg1148=)
c.3201_3209delinsTGCGGGCGC (p.Arg1067=)
19g.7467454G>ACA403088516ARHGEF18c.2209G>A (p.Ala737Thr)
c.2524G>A (p.Ala842Thr)
c.2212G>A (p.Ala738Thr)
c.3250G>A (p.Ala1084Thr)
c.2686G>A (p.Ala896Thr)
c.1601G>A
c.2486G>A
c.3445G>A (p.Ala1149Thr)
c.3202G>A (p.Ala1068Thr)
 dbSNP
19g.7467454G>CCA403088517ARHGEF18c.2209G>C (p.Ala737Pro)
c.2524G>C (p.Ala842Pro)
c.2212G>C (p.Ala738Pro)
c.3250G>C (p.Ala1084Pro)
c.2686G>C (p.Ala896Pro)
c.1601G>C
c.2486G>C
c.3445G>C (p.Ala1149Pro)
c.3202G>C (p.Ala1068Pro)
19g.7467454G=CA2320932359ARHGEF18c.2209G= (p.Ala737=)
c.2524G= (p.Ala842=)
c.2212G= (p.Ala738=)
c.3250G= (p.Ala1084=)
c.2686G= (p.Ala896=)
c.1601G=
c.2486G=
c.3445G= (p.Ala1149=)
c.3202G= (p.Ala1068=)
19g.7467454G>TCA403088518ARHGEF18c.2209G>T (p.Ala737Ser)
c.2524G>T (p.Ala842Ser)
c.2212G>T (p.Ala738Ser)
c.3250G>T (p.Ala1084Ser)
c.2686G>T (p.Ala896Ser)
c.1601G>T
c.2486G>T
c.3445G>T (p.Ala1149Ser)
c.3202G>T (p.Ala1068Ser)
 gnomAD v4
19g.7467458_7467465delCA2320932358ARHGEF18c.2213_2220del (p.Gly738AlafsTer?)
c.2528_2535del (p.Gly843AlafsTer?)
c.2216_2223del (p.Gly739AlafsTer?)
c.3254_3261del (p.Gly1085AlafsTer?)
c.2690_2697del (p.Gly897AlafsTer?)
c.1605_1612del
c.2490_2497del
c.3449_3456del (p.Gly1150AlafsTer?)
c.3206_3213del (p.Gly1069AlafsTer?)
 dbSNP
19g.7467455C>ACA403088524ARHGEF18c.2210C>A (p.Ala737Glu)
c.2525C>A (p.Ala842Glu)
c.2213C>A (p.Ala738Glu)
c.3251C>A (p.Ala1084Glu)
c.2687C>A (p.Ala896Glu)
c.1602C>A
c.2487C>A
c.3446C>A (p.Ala1149Glu)
c.3203C>A (p.Ala1068Glu)
 gnomAD v4
19g.7467455C=CA2320932360ARHGEF18c.2210C= (p.Ala737=)
c.2525C= (p.Ala842=)
c.2213C= (p.Ala738=)
c.3251C= (p.Ala1084=)
c.2687C= (p.Ala896=)
c.1602C=
c.2487C=
c.3446C= (p.Ala1149=)
c.3203C= (p.Ala1068=)
19g.7467455C>GCA403088521ARHGEF18c.2210C>G (p.Ala737Gly)
c.2525C>G (p.Ala842Gly)
c.2213C>G (p.Ala738Gly)
c.3251C>G (p.Ala1084Gly)
c.2687C>G (p.Ala896Gly)
c.1602C>G
c.2487C>G
c.3446C>G (p.Ala1149Gly)
c.3203C>G (p.Ala1068Gly)
19g.7467455C>TCA403088520ARHGEF18c.2210C>T (p.Ala737Val)
c.2525C>T (p.Ala842Val)
c.2213C>T (p.Ala738Val)
c.3251C>T (p.Ala1084Val)
c.2687C>T (p.Ala896Val)
c.1602C>T
c.2487C>T
c.3446C>T (p.Ala1149Val)
c.3203C>T (p.Ala1068Val)
 dbSNP gnomAD v2 gnomAD v4
19g.7467456G>ACA304856566ARHGEF18c.2211G>A (p.Ala737=)
c.2526G>A (p.Ala842=)
c.2214G>A (p.Ala738=)
c.3252G>A (p.Ala1084=)
c.2688G>A (p.Ala896=)
c.1603G>A
c.2488G>A
c.3447G>A (p.Ala1149=)
c.3204G>A (p.Ala1068=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467456G>CCA505401086ARHGEF18c.2211G>C (p.Ala737=)
c.2526G>C (p.Ala842=)
c.2214G>C (p.Ala738=)
c.3252G>C (p.Ala1084=)
c.2688G>C (p.Ala896=)
c.1603G>C
c.2488G>C
c.3447G>C (p.Ala1149=)
c.3204G>C (p.Ala1068=)
19g.7467456G=CA2320932361ARHGEF18c.2211G= (p.Ala737=)
c.2526G= (p.Ala842=)
c.2214G= (p.Ala738=)
c.3252G= (p.Ala1084=)
c.2688G= (p.Ala896=)
c.1603G=
c.2488G=
c.3447G= (p.Ala1149=)
c.3204G= (p.Ala1068=)
19g.7467456G>TCA505401087ARHGEF18c.2211G>T (p.Ala737=)
c.2526G>T (p.Ala842=)
c.2214G>T (p.Ala738=)
c.3252G>T (p.Ala1084=)
c.2688G>T (p.Ala896=)
c.1603G>T
c.2488G>T
c.3447G>T (p.Ala1149=)
c.3204G>T (p.Ala1068=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467457G>ACA304856570ARHGEF18c.2212G>A (p.Gly738Ser)
c.2527G>A (p.Gly843Ser)
c.2215G>A (p.Gly739Ser)
c.3253G>A (p.Gly1085Ser)
c.2689G>A (p.Gly897Ser)
c.1604G>A
c.2489G>A
c.3448G>A (p.Gly1150Ser)
c.3205G>A (p.Gly1069Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7467457G>CCA403088529ARHGEF18c.2212G>C (p.Gly738Arg)
c.2527G>C (p.Gly843Arg)
c.2215G>C (p.Gly739Arg)
c.3253G>C (p.Gly1085Arg)
c.2689G>C (p.Gly897Arg)
c.1604G>C
c.2489G>C
c.3448G>C (p.Gly1150Arg)
c.3205G>C (p.Gly1069Arg)
19g.7467457G=CA2320932362ARHGEF18c.2212G= (p.Gly738=)
c.2527G= (p.Gly843=)
c.2215G= (p.Gly739=)
c.3253G= (p.Gly1085=)
c.2689G= (p.Gly897=)
c.1604G=
c.2489G=
c.3448G= (p.Gly1150=)
c.3205G= (p.Gly1069=)
19g.7467457G>TCA403088531ARHGEF18c.2212G>T (p.Gly738Cys)
c.2527G>T (p.Gly843Cys)
c.2215G>T (p.Gly739Cys)
c.3253G>T (p.Gly1085Cys)
c.2689G>T (p.Gly897Cys)
c.1604G>T
c.2489G>T
c.3448G>T (p.Gly1150Cys)
c.3205G>T (p.Gly1069Cys)
 gnomAD v4
19g.7467458G>ACA403088534ARHGEF18c.2213G>A (p.Gly738Asp)
c.2528G>A (p.Gly843Asp)
c.2216G>A (p.Gly739Asp)
c.3254G>A (p.Gly1085Asp)
c.2690G>A (p.Gly897Asp)
c.1605G>A
c.2490G>A
c.3449G>A (p.Gly1150Asp)
c.3206G>A (p.Gly1069Asp)
 gnomAD v4
19g.7467458G>CCA403088538ARHGEF18c.2213G>C (p.Gly738Ala)
c.2528G>C (p.Gly843Ala)
c.2216G>C (p.Gly739Ala)
c.3254G>C (p.Gly1085Ala)
c.2690G>C (p.Gly897Ala)
c.1605G>C
c.2490G>C
c.3449G>C (p.Gly1150Ala)
c.3206G>C (p.Gly1069Ala)
19g.7467458G>TCA403088540ARHGEF18c.2213G>T (p.Gly738Val)
c.2528G>T (p.Gly843Val)
c.2216G>T (p.Gly739Val)
c.3254G>T (p.Gly1085Val)
c.2690G>T (p.Gly897Val)
c.1605G>T
c.2490G>T
c.3449G>T (p.Gly1150Val)
c.3206G>T (p.Gly1069Val)
 gnomAD v4
19g.7467459C>ACA505401090ARHGEF18c.2214C>A (p.Gly738=)
c.2529C>A (p.Gly843=)
c.2217C>A (p.Gly739=)
c.3255C>A (p.Gly1085=)
c.2691C>A (p.Gly897=)
c.1606C>A
c.2491C>A
c.3450C>A (p.Gly1150=)
c.3207C>A (p.Gly1069=)
 gnomAD v4
19g.7467459C=CA2320932363ARHGEF18c.2214C= (p.Gly738=)
c.2529C= (p.Gly843=)
c.2217C= (p.Gly739=)
c.3255C= (p.Gly1085=)
c.2691C= (p.Gly897=)
c.1606C=
c.2491C=
c.3450C= (p.Gly1150=)
c.3207C= (p.Gly1069=)
19g.7467459C>GCA505401092ARHGEF18c.2214C>G (p.Gly738=)
c.2529C>G (p.Gly843=)
c.2217C>G (p.Gly739=)
c.3255C>G (p.Gly1085=)
c.2691C>G (p.Gly897=)
c.1606C>G
c.2491C>G
c.3450C>G (p.Gly1150=)
c.3207C>G (p.Gly1069=)
19g.7467459C>TCA505401093ARHGEF18c.2214C>T (p.Gly738=)
c.2529C>T (p.Gly843=)
c.2217C>T (p.Gly739=)
c.3255C>T (p.Gly1085=)
c.2691C>T (p.Gly897=)
c.1606C>T
c.2491C>T
c.3450C>T (p.Gly1150=)
c.3207C>T (p.Gly1069=)
 ClinVar dbSNP gnomAD v4
19g.7467460G>ACA403088546ARHGEF18c.2215G>A (p.Ala739Thr)
c.2530G>A (p.Ala844Thr)
c.2218G>A (p.Ala740Thr)
c.3256G>A (p.Ala1086Thr)
c.2692G>A (p.Ala898Thr)
c.1607G>A
c.2492G>A
c.3451G>A (p.Ala1151Thr)
c.3208G>A (p.Ala1070Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467460G>CCA403088555ARHGEF18c.2215G>C (p.Ala739Pro)
c.2530G>C (p.Ala844Pro)
c.2218G>C (p.Ala740Pro)
c.3256G>C (p.Ala1086Pro)
c.2692G>C (p.Ala898Pro)
c.1607G>C
c.2492G>C
c.3451G>C (p.Ala1151Pro)
c.3208G>C (p.Ala1070Pro)
19g.7467460G=CA2320932364ARHGEF18c.2215G= (p.Ala739=)
c.2530G= (p.Ala844=)
c.2218G= (p.Ala740=)
c.3256G= (p.Ala1086=)
c.2692G= (p.Ala898=)
c.1607G=
c.2492G=
c.3451G= (p.Ala1151=)
c.3208G= (p.Ala1070=)
19g.7467460G>TCA403088561ARHGEF18c.2215G>T (p.Ala739Ser)
c.2530G>T (p.Ala844Ser)
c.2218G>T (p.Ala740Ser)
c.3256G>T (p.Ala1086Ser)
c.2692G>T (p.Ala898Ser)
c.1607G>T
c.2492G>T
c.3451G>T (p.Ala1151Ser)
c.3208G>T (p.Ala1070Ser)
 gnomAD v4
19g.7467461C>ACA403088565ARHGEF18c.2216C>A (p.Ala739Glu)
c.2531C>A (p.Ala844Glu)
c.2219C>A (p.Ala740Glu)
c.3257C>A (p.Ala1086Glu)
c.2693C>A (p.Ala898Glu)
c.1608C>A
c.2493C>A
c.3452C>A (p.Ala1151Glu)
c.3209C>A (p.Ala1070Glu)
 gnomAD v4
19g.7467461C=CA2320932365ARHGEF18c.2216C= (p.Ala739=)
c.2531C= (p.Ala844=)
c.2219C= (p.Ala740=)
c.3257C= (p.Ala1086=)
c.2693C= (p.Ala898=)
c.1608C=
c.2493C=
c.3452C= (p.Ala1151=)
c.3209C= (p.Ala1070=)
19g.7467461C>GCA403088570ARHGEF18c.2216C>G (p.Ala739Gly)
c.2531C>G (p.Ala844Gly)
c.2219C>G (p.Ala740Gly)
c.3257C>G (p.Ala1086Gly)
c.2693C>G (p.Ala898Gly)
c.1608C>G
c.2493C>G
c.3452C>G (p.Ala1151Gly)
c.3209C>G (p.Ala1070Gly)
19g.7467461C>TCA9137129ARHGEF18c.2216C>T (p.Ala739Val)
c.2531C>T (p.Ala844Val)
c.2219C>T (p.Ala740Val)
c.3257C>T (p.Ala1086Val)
c.2693C>T (p.Ala898Val)
c.1608C>T
c.2493C>T
c.3452C>T (p.Ala1151Val)
c.3209C>T (p.Ala1070Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7467462G>ACA505401099ARHGEF18c.2217G>A (p.Ala739=)
c.2532G>A (p.Ala844=)
c.2220G>A (p.Ala740=)
c.3258G>A (p.Ala1086=)
c.2694G>A (p.Ala898=)
c.1609G>A
c.2494G>A
c.3453G>A (p.Ala1151=)
c.3210G>A (p.Ala1070=)
 dbSNP gnomAD v4
19g.7467462G>CCA505401097ARHGEF18c.2217G>C (p.Ala739=)
c.2532G>C (p.Ala844=)
c.2220G>C (p.Ala740=)
c.3258G>C (p.Ala1086=)
c.2694G>C (p.Ala898=)
c.1609G>C
c.2494G>C
c.3453G>C (p.Ala1151=)
c.3210G>C (p.Ala1070=)
19g.7467462G=CA2320932366ARHGEF18c.2217G= (p.Ala739=)
c.2532G= (p.Ala844=)
c.2220G= (p.Ala740=)
c.3258G= (p.Ala1086=)
c.2694G= (p.Ala898=)
c.1609G=
c.2494G=
c.3453G= (p.Ala1151=)
c.3210G= (p.Ala1070=)
19g.7467462G>TCA505401098ARHGEF18c.2217G>T (p.Ala739=)
c.2532G>T (p.Ala844=)
c.2220G>T (p.Ala740=)
c.3258G>T (p.Ala1086=)
c.2694G>T (p.Ala898=)
c.1609G>T
c.2494G>T
c.3453G>T (p.Ala1151=)
c.3210G>T (p.Ala1070=)
19g.7467463C>ACA505401100ARHGEF18c.2218C>A (p.Arg740=)
c.2533C>A (p.Arg845=)
c.2221C>A (p.Arg741=)
c.3259C>A (p.Arg1087=)
c.2695C>A (p.Arg899=)
c.1610C>A
c.2495C>A
c.3454C>A (p.Arg1152=)
c.3211C>A (p.Arg1071=)
 gnomAD v4
19g.7467463C=CA2320932367ARHGEF18c.2218C= (p.Arg740=)
c.2533C= (p.Arg845=)
c.2221C= (p.Arg741=)
c.3259C= (p.Arg1087=)
c.2695C= (p.Arg899=)
c.1610C=
c.2495C=
c.3454C= (p.Arg1152=)
c.3211C= (p.Arg1071=)
19g.7467463C>GCA403088578ARHGEF18c.2218C>G (p.Arg740Gly)
c.2533C>G (p.Arg845Gly)
c.2221C>G (p.Arg741Gly)
c.3259C>G (p.Arg1087Gly)
c.2695C>G (p.Arg899Gly)
c.1610C>G
c.2495C>G
c.3454C>G (p.Arg1152Gly)
c.3211C>G (p.Arg1071Gly)
 gnomAD v4
19g.7467463C>TCA9137130ARHGEF18c.2218C>T (p.Arg740Trp)
c.2533C>T (p.Arg845Trp)
c.2221C>T (p.Arg741Trp)
c.3259C>T (p.Arg1087Trp)
c.2695C>T (p.Arg899Trp)
c.1610C>T
c.2495C>T
c.3454C>T (p.Arg1152Trp)
c.3211C>T (p.Arg1071Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7467464G>ACA403088579ARHGEF18c.2219G>A (p.Arg740Gln)
c.2534G>A (p.Arg845Gln)
c.2222G>A (p.Arg741Gln)
c.3260G>A (p.Arg1087Gln)
c.2696G>A (p.Arg899Gln)
c.1611G>A
c.2496G>A
c.3455G>A (p.Arg1152Gln)
c.3212G>A (p.Arg1071Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.7467464G>CCA403088582ARHGEF18c.2219G>C (p.Arg740Pro)
c.2534G>C (p.Arg845Pro)
c.2222G>C (p.Arg741Pro)
c.3260G>C (p.Arg1087Pro)
c.2696G>C (p.Arg899Pro)
c.1611G>C
c.2496G>C
c.3455G>C (p.Arg1152Pro)
c.3212G>C (p.Arg1071Pro)
 gnomAD v4
19g.7467464G=CA2320932368ARHGEF18c.2219G= (p.Arg740=)
c.2534G= (p.Arg845=)
c.2222G= (p.Arg741=)
c.3260G= (p.Arg1087=)
c.2696G= (p.Arg899=)
c.1611G=
c.2496G=
c.3455G= (p.Arg1152=)
c.3212G= (p.Arg1071=)
19g.7467464G>TCA403088585ARHGEF18c.2219G>T (p.Arg740Leu)
c.2534G>T (p.Arg845Leu)
c.2222G>T (p.Arg741Leu)
c.3260G>T (p.Arg1087Leu)
c.2696G>T (p.Arg899Leu)
c.1611G>T
c.2496G>T
c.3455G>T (p.Arg1152Leu)
c.3212G>T (p.Arg1071Leu)
 gnomAD v4
19g.7467465G>ACA505401105ARHGEF18c.2220G>A (p.Arg740=)
c.2535G>A (p.Arg845=)
c.2223G>A (p.Arg741=)
c.3261G>A (p.Arg1087=)
c.2697G>A (p.Arg899=)
c.1612G>A
c.2497G>A
c.3456G>A (p.Arg1152=)
c.3213G>A (p.Arg1071=)
 gnomAD v4
19g.7467465G>CCA505401106ARHGEF18c.2220G>C (p.Arg740=)
c.2535G>C (p.Arg845=)
c.2223G>C (p.Arg741=)
c.3261G>C (p.Arg1087=)
c.2697G>C (p.Arg899=)
c.1612G>C
c.2497G>C
c.3456G>C (p.Arg1152=)
c.3213G>C (p.Arg1071=)
19g.7467465G>TCA505401107ARHGEF18c.2220G>T (p.Arg740=)
c.2535G>T (p.Arg845=)
c.2223G>T (p.Arg741=)
c.3261G>T (p.Arg1087=)
c.2697G>T (p.Arg899=)
c.1612G>T
c.2497G>T
c.3456G>T (p.Arg1152=)
c.3213G>T (p.Arg1071=)
19g.7467466C>ACA403088587ARHGEF18c.2221C>A (p.Leu741Met)
c.2536C>A (p.Leu846Met)
c.2224C>A (p.Leu742Met)
c.3262C>A (p.Leu1088Met)
c.2698C>A (p.Leu900Met)
c.1613C>A
c.2498C>A
c.3457C>A (p.Leu1153Met)
c.3214C>A (p.Leu1072Met)
19g.7467466C>GCA403088591ARHGEF18c.2221C>G (p.Leu741Val)
c.2536C>G (p.Leu846Val)
c.2224C>G (p.Leu742Val)
c.3262C>G (p.Leu1088Val)
c.2698C>G (p.Leu900Val)
c.1613C>G
c.2498C>G
c.3457C>G (p.Leu1153Val)
c.3214C>G (p.Leu1072Val)
19g.7467466C>TCA505401108ARHGEF18c.2221C>T (p.Leu741=)
c.2536C>T (p.Leu846=)
c.2224C>T (p.Leu742=)
c.3262C>T (p.Leu1088=)
c.2698C>T (p.Leu900=)
c.1613C>T
c.2498C>T
c.3457C>T (p.Leu1153=)
c.3214C>T (p.Leu1072=)
 gnomAD v4
19g.7467467T>ACA403088596ARHGEF18c.2222T>A (p.Leu741Gln)
c.2537T>A (p.Leu846Gln)
c.2225T>A (p.Leu742Gln)
c.3263T>A (p.Leu1088Gln)
c.2699T>A (p.Leu900Gln)
c.1614T>A
c.2499T>A
c.3458T>A (p.Leu1153Gln)
c.3215T>A (p.Leu1072Gln)
 gnomAD v4
19g.7467467T>CCA403088599ARHGEF18c.2222T>C (p.Leu741Pro)
c.2537T>C (p.Leu846Pro)
c.2225T>C (p.Leu742Pro)
c.3263T>C (p.Leu1088Pro)
c.2699T>C (p.Leu900Pro)
c.1614T>C
c.2499T>C
c.3458T>C (p.Leu1153Pro)
c.3215T>C (p.Leu1072Pro)
 gnomAD v4
19g.7467467T>GCA403088611ARHGEF18c.2222T>G (p.Leu741Arg)
c.2537T>G (p.Leu846Arg)
c.2225T>G (p.Leu742Arg)
c.3263T>G (p.Leu1088Arg)
c.2699T>G (p.Leu900Arg)
c.1614T>G
c.2499T>G
c.3458T>G (p.Leu1153Arg)
c.3215T>G (p.Leu1072Arg)
19g.7467468G>ACA505401109ARHGEF18c.2223G>A (p.Leu741=)
c.2538G>A (p.Leu846=)
c.2226G>A (p.Leu742=)
c.3264G>A (p.Leu1088=)
c.2700G>A (p.Leu900=)
c.1615G>A
c.2500G>A
c.3459G>A (p.Leu1153=)
c.3216G>A (p.Leu1072=)
 ClinVar dbSNP gnomAD v4
19g.7467468G>CCA505401110ARHGEF18c.2223G>C (p.Leu741=)
c.2538G>C (p.Leu846=)
c.2226G>C (p.Leu742=)
c.3264G>C (p.Leu1088=)
c.2700G>C (p.Leu900=)
c.1615G>C
c.2500G>C
c.3459G>C (p.Leu1153=)
c.3216G>C (p.Leu1072=)
19g.7467468G>TCA505401112ARHGEF18c.2223G>T (p.Leu741=)
c.2538G>T (p.Leu846=)
c.2226G>T (p.Leu742=)
c.3264G>T (p.Leu1088=)
c.2700G>T (p.Leu900=)
c.1615G>T
c.2500G>T
c.3459G>T (p.Leu1153=)
c.3216G>T (p.Leu1072=)
 gnomAD v4
19g.7467469C>ACA403088615ARHGEF18c.2224C>A (p.Gln742Lys)
c.2539C>A (p.Gln847Lys)
c.2227C>A (p.Gln743Lys)
c.3265C>A (p.Gln1089Lys)
c.2701C>A (p.Gln901Lys)
c.1616C>A
c.2501C>A
c.3460C>A (p.Gln1154Lys)
c.3217C>A (p.Gln1073Lys)
 gnomAD v4
19g.7467469C>GCA403088618ARHGEF18c.2224C>G (p.Gln742Glu)
c.2539C>G (p.Gln847Glu)
c.2227C>G (p.Gln743Glu)
c.3265C>G (p.Gln1089Glu)
c.2701C>G (p.Gln901Glu)
c.1616C>G
c.2501C>G
c.3460C>G (p.Gln1154Glu)
c.3217C>G (p.Gln1073Glu)
19g.7467469C>TCA403088620ARHGEF18c.2224C>T (p.Gln742Ter)
c.2539C>T (p.Gln847Ter)
c.2227C>T (p.Gln743Ter)
c.3265C>T (p.Gln1089Ter)
c.2701C>T (p.Gln901Ter)
c.1616C>T
c.2501C>T
c.3460C>T (p.Gln1154Ter)
c.3217C>T (p.Gln1073Ter)
 gnomAD v4
19g.7467470A>CCA403088626ARHGEF18c.2225A>C (p.Gln742Pro)
c.2540A>C (p.Gln847Pro)
c.2228A>C (p.Gln743Pro)
c.3266A>C (p.Gln1089Pro)
c.2702A>C (p.Gln901Pro)
c.1617A>C
c.2502A>C
c.3461A>C (p.Gln1154Pro)
c.3218A>C (p.Gln1073Pro)
19g.7467470A>GCA403088628ARHGEF18c.2225A>G (p.Gln742Arg)
c.2540A>G (p.Gln847Arg)
c.2228A>G (p.Gln743Arg)
c.3266A>G (p.Gln1089Arg)
c.2702A>G (p.Gln901Arg)
c.1617A>G
c.2502A>G
c.3461A>G (p.Gln1154Arg)
c.3218A>G (p.Gln1073Arg)
 gnomAD v4
19g.7467470A>TCA403088631ARHGEF18c.2225A>T (p.Gln742Leu)
c.2540A>T (p.Gln847Leu)
c.2228A>T (p.Gln743Leu)
c.3266A>T (p.Gln1089Leu)
c.2702A>T (p.Gln901Leu)
c.1617A>T
c.2502A>T
c.3461A>T (p.Gln1154Leu)
c.3218A>T (p.Gln1073Leu)
19g.7467471G>ACA505401120ARHGEF18c.2226G>A (p.Gln742=)
c.2541G>A (p.Gln847=)
c.2229G>A (p.Gln743=)
c.3267G>A (p.Gln1089=)
c.2703G>A (p.Gln901=)
c.1618G>A
c.2503G>A
c.3462G>A (p.Gln1154=)
c.3219G>A (p.Gln1073=)
 gnomAD v4
19g.7467471G>CCA403088634ARHGEF18c.2226G>C (p.Gln742His)
c.2541G>C (p.Gln847His)
c.2229G>C (p.Gln743His)
c.3267G>C (p.Gln1089His)
c.2703G>C (p.Gln901His)
c.1618G>C
c.2503G>C
c.3462G>C (p.Gln1154His)
c.3219G>C (p.Gln1073His)
19g.7467471G>TCA403088638ARHGEF18c.2226G>T (p.Gln742His)
c.2541G>T (p.Gln847His)
c.2229G>T (p.Gln743His)
c.3267G>T (p.Gln1089His)
c.2703G>T (p.Gln901His)
c.1618G>T
c.2503G>T
c.3462G>T (p.Gln1154His)
c.3219G>T (p.Gln1073His)
 gnomAD v4
19g.7467472G>ACA403088642ARHGEF18c.2227G>A (p.Glu743Lys)
c.2542G>A (p.Glu848Lys)
c.2230G>A (p.Glu744Lys)
c.3268G>A (p.Glu1090Lys)
c.2704G>A (p.Glu902Lys)
c.1619G>A
c.2504G>A
c.3463G>A (p.Glu1155Lys)
c.3220G>A (p.Glu1074Lys)
 gnomAD v4
19g.7467472G>CCA403088645ARHGEF18c.2227G>C (p.Glu743Gln)
c.2542G>C (p.Glu848Gln)
c.2230G>C (p.Glu744Gln)
c.3268G>C (p.Glu1090Gln)
c.2704G>C (p.Glu902Gln)
c.1619G>C
c.2504G>C
c.3463G>C (p.Glu1155Gln)
c.3220G>C (p.Glu1074Gln)
19g.7467472G>TCA403088649ARHGEF18c.2227G>T (p.Glu743Ter)
c.2542G>T (p.Glu848Ter)
c.2230G>T (p.Glu744Ter)
c.3268G>T (p.Glu1090Ter)
c.2704G>T (p.Glu902Ter)
c.1619G>T
c.2504G>T
c.3463G>T (p.Glu1155Ter)
c.3220G>T (p.Glu1074Ter)
 gnomAD v4
19g.7467473A>CCA403088654ARHGEF18c.2228A>C (p.Glu743Ala)
c.2543A>C (p.Glu848Ala)
c.2231A>C (p.Glu744Ala)
c.3269A>C (p.Glu1090Ala)
c.2705A>C (p.Glu902Ala)
c.1620A>C
c.2505A>C
c.3464A>C (p.Glu1155Ala)
c.3221A>C (p.Glu1074Ala)
19g.7467473A>GCA403088660ARHGEF18c.2228A>G (p.Glu743Gly)
c.2543A>G (p.Glu848Gly)
c.2231A>G (p.Glu744Gly)
c.3269A>G (p.Glu1090Gly)
c.2705A>G (p.Glu902Gly)
c.1620A>G
c.2505A>G
c.3464A>G (p.Glu1155Gly)
c.3221A>G (p.Glu1074Gly)
19g.7467473A>TCA403088662ARHGEF18c.2228A>T (p.Glu743Val)
c.2543A>T (p.Glu848Val)
c.2231A>T (p.Glu744Val)
c.3269A>T (p.Glu1090Val)
c.2705A>T (p.Glu902Val)
c.1620A>T
c.2505A>T
c.3464A>T (p.Glu1155Val)
c.3221A>T (p.Glu1074Val)
19g.7467474G>ACA304856587ARHGEF18c.2229G>A (p.Glu743=)
c.2544G>A (p.Glu848=)
c.2232G>A (p.Glu744=)
c.3270G>A (p.Glu1090=)
c.2706G>A (p.Glu902=)
c.1621G>A
c.2506G>A
c.3465G>A (p.Glu1155=)
c.3222G>A (p.Glu1074=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467474G>CCA403088665ARHGEF18c.2229G>C (p.Glu743Asp)
c.2544G>C (p.Glu848Asp)
c.2232G>C (p.Glu744Asp)
c.3270G>C (p.Glu1090Asp)
c.2706G>C (p.Glu902Asp)
c.1621G>C
c.2506G>C
c.3465G>C (p.Glu1155Asp)
c.3222G>C (p.Glu1074Asp)
19g.7467474G=CA2320932369ARHGEF18c.2229G= (p.Glu743=)
c.2544G= (p.Glu848=)
c.2232G= (p.Glu744=)
c.3270G= (p.Glu1090=)
c.2706G= (p.Glu902=)
c.1621G=
c.2506G=
c.3465G= (p.Glu1155=)
c.3222G= (p.Glu1074=)
19g.7467474G>TCA403088667ARHGEF18c.2229G>T (p.Glu743Asp)
c.2544G>T (p.Glu848Asp)
c.2232G>T (p.Glu744Asp)
c.3270G>T (p.Glu1090Asp)
c.2706G>T (p.Glu902Asp)
c.1621G>T
c.2506G>T
c.3465G>T (p.Glu1155Asp)
c.3222G>T (p.Glu1074Asp)
 gnomAD v4
19g.7467475C>ACA403088671ARHGEF18c.2230C>A (p.Arg744Ser)
c.2545C>A (p.Arg849Ser)
c.2233C>A (p.Arg745Ser)
c.3271C>A (p.Arg1091Ser)
c.2707C>A (p.Arg903Ser)
c.1622C>A
c.2507C>A
c.3466C>A (p.Arg1156Ser)
c.3223C>A (p.Arg1075Ser)
 gnomAD v4
19g.7467475C=CA2320932370ARHGEF18c.2230C= (p.Arg744=)
c.2545C= (p.Arg849=)
c.2233C= (p.Arg745=)
c.3271C= (p.Arg1091=)
c.2707C= (p.Arg903=)
c.1622C=
c.2507C=
c.3466C= (p.Arg1156=)
c.3223C= (p.Arg1075=)
19g.7467475C>GCA403088674ARHGEF18c.2230C>G (p.Arg744Gly)
c.2545C>G (p.Arg849Gly)
c.2233C>G (p.Arg745Gly)
c.3271C>G (p.Arg1091Gly)
c.2707C>G (p.Arg903Gly)
c.1622C>G
c.2507C>G
c.3466C>G (p.Arg1156Gly)
c.3223C>G (p.Arg1075Gly)
 gnomAD v4
19g.7467475C>TCA403088679ARHGEF18c.2230C>T (p.Arg744Cys)
c.2545C>T (p.Arg849Cys)
c.2233C>T (p.Arg745Cys)
c.3271C>T (p.Arg1091Cys)
c.2707C>T (p.Arg903Cys)
c.1622C>T
c.2507C>T
c.3466C>T (p.Arg1156Cys)
c.3223C>T (p.Arg1075Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467476G>ACA403088689ARHGEF18c.2231G>A (p.Arg744His)
c.2546G>A (p.Arg849His)
c.2234G>A (p.Arg745His)
c.3272G>A (p.Arg1091His)
c.2708G>A (p.Arg903His)
c.1623G>A
c.2508G>A
c.3467G>A (p.Arg1156His)
c.3224G>A (p.Arg1075His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7467476G>CCA403088688ARHGEF18c.2231G>C (p.Arg744Pro)
c.2546G>C (p.Arg849Pro)
c.2234G>C (p.Arg745Pro)
c.3272G>C (p.Arg1091Pro)
c.2708G>C (p.Arg903Pro)
c.1623G>C
c.2508G>C
c.3467G>C (p.Arg1156Pro)
c.3224G>C (p.Arg1075Pro)
 gnomAD v4
19g.7467476G=CA2320932371ARHGEF18c.2231G= (p.Arg744=)
c.2546G= (p.Arg849=)
c.2234G= (p.Arg745=)
c.3272G= (p.Arg1091=)
c.2708G= (p.Arg903=)
c.1623G=
c.2508G=
c.3467G= (p.Arg1156=)
c.3224G= (p.Arg1075=)
19g.7467476G>TCA403088685ARHGEF18c.2231G>T (p.Arg744Leu)
c.2546G>T (p.Arg849Leu)
c.2234G>T (p.Arg745Leu)
c.3272G>T (p.Arg1091Leu)
c.2708G>T (p.Arg903Leu)
c.1623G>T
c.2508G>T
c.3467G>T (p.Arg1156Leu)
c.3224G>T (p.Arg1075Leu)
 gnomAD v4
19g.7467477C>ACA505401126ARHGEF18c.2232C>A (p.Arg744=)
c.2547C>A (p.Arg849=)
c.2235C>A (p.Arg745=)
c.3273C>A (p.Arg1091=)
c.2709C>A (p.Arg903=)
c.1624C>A
c.2509C>A
c.3468C>A (p.Arg1156=)
c.3225C>A (p.Arg1075=)
19g.7467477C=CA2320932372ARHGEF18c.2232C= (p.Arg744=)
c.2547C= (p.Arg849=)
c.2235C= (p.Arg745=)
c.3273C= (p.Arg1091=)
c.2709C= (p.Arg903=)
c.1624C=
c.2509C=
c.3468C= (p.Arg1156=)
c.3225C= (p.Arg1075=)
19g.7467477C>GCA505401127ARHGEF18c.2232C>G (p.Arg744=)
c.2547C>G (p.Arg849=)
c.2235C>G (p.Arg745=)
c.3273C>G (p.Arg1091=)
c.2709C>G (p.Arg903=)
c.1624C>G
c.2509C>G
c.3468C>G (p.Arg1156=)
c.3225C>G (p.Arg1075=)
19g.7467477C>TCA505401128ARHGEF18c.2232C>T (p.Arg744=)
c.2547C>T (p.Arg849=)
c.2235C>T (p.Arg745=)
c.3273C>T (p.Arg1091=)
c.2709C>T (p.Arg903=)
c.1624C>T
c.2509C>T
c.3468C>T (p.Arg1156=)
c.3225C>T (p.Arg1075=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7467478G>ACA403088693ARHGEF18c.2233G>A (p.Glu745Lys)
c.2548G>A (p.Glu850Lys)
c.2236G>A (p.Glu746Lys)
c.3274G>A (p.Glu1092Lys)
c.2710G>A (p.Glu904Lys)
c.1625G>A
c.2510G>A
c.3469G>A (p.Glu1157Lys)
c.3226G>A (p.Glu1076Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.7467478G>CCA403088698ARHGEF18c.2233G>C (p.Glu745Gln)
c.2548G>C (p.Glu850Gln)
c.2236G>C (p.Glu746Gln)
c.3274G>C (p.Glu1092Gln)
c.2710G>C (p.Glu904Gln)
c.1625G>C
c.2510G>C
c.3469G>C (p.Glu1157Gln)
c.3226G>C (p.Glu1076Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.7467478G=CA2320932373ARHGEF18c.2233G= (p.Glu745=)
c.2548G= (p.Glu850=)
c.2236G= (p.Glu746=)
c.3274G= (p.Glu1092=)
c.2710G= (p.Glu904=)
c.1625G=
c.2510G=
c.3469G= (p.Glu1157=)
c.3226G= (p.Glu1076=)
19g.7467478G>TCA403088696ARHGEF18c.2233G>T (p.Glu745Ter)
c.2548G>T (p.Glu850Ter)
c.2236G>T (p.Glu746Ter)
c.3274G>T (p.Glu1092Ter)
c.2710G>T (p.Glu904Ter)
c.1625G>T
c.2510G>T
c.3469G>T (p.Glu1157Ter)
c.3226G>T (p.Glu1076Ter)
 gnomAD v4
19g.7467479A=CA2320932374ARHGEF18c.2234A= (p.Glu745=)
c.2549A= (p.Glu850=)
c.2237A= (p.Glu746=)
c.3275A= (p.Glu1092=)
c.2711A= (p.Glu904=)
c.1626A=
c.2511A=
c.3470A= (p.Glu1157=)
c.3227A= (p.Glu1076=)
19g.7467479A>CCA403088700ARHGEF18c.2234A>C (p.Glu745Ala)
c.2549A>C (p.Glu850Ala)
c.2237A>C (p.Glu746Ala)
c.3275A>C (p.Glu1092Ala)
c.2711A>C (p.Glu904Ala)
c.1626A>C
c.2511A>C
c.3470A>C (p.Glu1157Ala)
c.3227A>C (p.Glu1076Ala)
19g.7467479A>GCA403088705ARHGEF18c.2234A>G (p.Glu745Gly)
c.2549A>G (p.Glu850Gly)
c.2237A>G (p.Glu746Gly)
c.3275A>G (p.Glu1092Gly)
c.2711A>G (p.Glu904Gly)
c.1626A>G
c.2511A>G
c.3470A>G (p.Glu1157Gly)
c.3227A>G (p.Glu1076Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.7467479A>TCA403088703ARHGEF18c.2234A>T (p.Glu745Val)
c.2549A>T (p.Glu850Val)
c.2237A>T (p.Glu746Val)
c.3275A>T (p.Glu1092Val)
c.2711A>T (p.Glu904Val)
c.1626A>T
c.2511A>T
c.3470A>T (p.Glu1157Val)
c.3227A>T (p.Glu1076Val)
19g.7467480G>ACA505401134ARHGEF18c.2235G>A (p.Glu745=)
c.2550G>A (p.Glu850=)
c.2238G>A (p.Glu746=)
c.3276G>A (p.Glu1092=)
c.2712G>A (p.Glu904=)
c.1627G>A
c.2512G>A
c.3471G>A (p.Glu1157=)
c.3228G>A (p.Glu1076=)
 gnomAD v4
19g.7467480G>CCA403088708ARHGEF18c.2235G>C (p.Glu745Asp)
c.2550G>C (p.Glu850Asp)
c.2238G>C (p.Glu746Asp)
c.3276G>C (p.Glu1092Asp)
c.2712G>C (p.Glu904Asp)
c.1627G>C
c.2512G>C
c.3471G>C (p.Glu1157Asp)
c.3228G>C (p.Glu1076Asp)
19g.7467480G>TCA403088711ARHGEF18c.2235G>T (p.Glu745Asp)
c.2550G>T (p.Glu850Asp)
c.2238G>T (p.Glu746Asp)
c.3276G>T (p.Glu1092Asp)
c.2712G>T (p.Glu904Asp)
c.1627G>T
c.2512G>T
c.3471G>T (p.Glu1157Asp)
c.3228G>T (p.Glu1076Asp)
 gnomAD v4
19g.7467481G>ACA403088714ARHGEF18c.2236G>A (p.Gly746Ser)
c.2551G>A (p.Gly851Ser)
c.2239G>A (p.Gly747Ser)
c.3277G>A (p.Gly1093Ser)
c.2713G>A (p.Gly905Ser)
c.1628G>A
c.2513G>A
c.3472G>A (p.Gly1158Ser)
c.3229G>A (p.Gly1077Ser)
 gnomAD v4
19g.7467481G>CCA403088718ARHGEF18c.2236G>C (p.Gly746Arg)
c.2551G>C (p.Gly851Arg)
c.2239G>C (p.Gly747Arg)
c.3277G>C (p.Gly1093Arg)
c.2713G>C (p.Gly905Arg)
c.1628G>C
c.2513G>C
c.3472G>C (p.Gly1158Arg)
c.3229G>C (p.Gly1077Arg)
19g.7467481G>TCA403088721ARHGEF18c.2236G>T (p.Gly746Cys)
c.2551G>T (p.Gly851Cys)
c.2239G>T (p.Gly747Cys)
c.3277G>T (p.Gly1093Cys)
c.2713G>T (p.Gly905Cys)
c.1628G>T
c.2513G>T
c.3472G>T (p.Gly1158Cys)
c.3229G>T (p.Gly1077Cys)
19g.7467482G>ACA403088724ARHGEF18c.2237G>A (p.Gly746Asp)
c.2552G>A (p.Gly851Asp)
c.2240G>A (p.Gly747Asp)
c.3278G>A (p.Gly1093Asp)
c.2714G>A (p.Gly905Asp)
c.1629G>A
c.2514G>A
c.3473G>A (p.Gly1158Asp)
c.3230G>A (p.Gly1077Asp)
 gnomAD v4
19g.7467482G>CCA403088726ARHGEF18c.2237G>C (p.Gly746Ala)
c.2552G>C (p.Gly851Ala)
c.2240G>C (p.Gly747Ala)
c.3278G>C (p.Gly1093Ala)
c.2714G>C (p.Gly905Ala)
c.1629G>C
c.2514G>C
c.3473G>C (p.Gly1158Ala)
c.3230G>C (p.Gly1077Ala)
19g.7467482G>TCA403088729ARHGEF18c.2237G>T (p.Gly746Val)
c.2552G>T (p.Gly851Val)
c.2240G>T (p.Gly747Val)
c.3278G>T (p.Gly1093Val)
c.2714G>T (p.Gly905Val)
c.1629G>T
c.2514G>T
c.3473G>T (p.Gly1158Val)
c.3230G>T (p.Gly1077Val)
 gnomAD v4
19g.7467483_7467484delCA2587935239ARHGEF18c.2238_2239del (p.Glu747GlyfsTer?)
c.2553_2554del (p.Glu852GlyfsTer?)
c.2241_2242del (p.Glu748GlyfsTer?)
c.3279_3280del (p.Glu1094GlyfsTer?)
c.2715_2716del (p.Glu906GlyfsTer?)
c.1630_1631del
c.2515_2516del
c.3474_3475del (p.Glu1159GlyfsTer?)
c.3231_3232del (p.Glu1078GlyfsTer?)
 gnomAD v4
19g.7467483C>ACA505401143ARHGEF18c.2238C>A (p.Gly746=)
c.2553C>A (p.Gly851=)
c.2241C>A (p.Gly747=)
c.3279C>A (p.Gly1093=)
c.2715C>A (p.Gly905=)
c.1630C>A
c.2515C>A
c.3474C>A (p.Gly1158=)
c.3231C>A (p.Gly1077=)
 gnomAD v4
19g.7467483C=CA2320932375ARHGEF18c.2238C= (p.Gly746=)
c.2553C= (p.Gly851=)
c.2241C= (p.Gly747=)
c.3279C= (p.Gly1093=)
c.2715C= (p.Gly905=)
c.1630C=
c.2515C=
c.3474C= (p.Gly1158=)
c.3231C= (p.Gly1077=)
19g.7467483C>GCA505401139ARHGEF18c.2238C>G (p.Gly746=)
c.2553C>G (p.Gly851=)
c.2241C>G (p.Gly747=)
c.3279C>G (p.Gly1093=)
c.2715C>G (p.Gly905=)
c.1630C>G
c.2515C>G
c.3474C>G (p.Gly1158=)
c.3231C>G (p.Gly1077=)
19g.7467483C>TCA505401141ARHGEF18c.2238C>T (p.Gly746=)
c.2553C>T (p.Gly851=)
c.2241C>T (p.Gly747=)
c.3279C>T (p.Gly1093=)
c.2715C>T (p.Gly905=)
c.1630C>T
c.2515C>T
c.3474C>T (p.Gly1158=)
c.3231C>T (p.Gly1077=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467484G>ACA403088733ARHGEF18c.2239G>A (p.Glu747Lys)
c.2554G>A (p.Glu852Lys)
c.2242G>A (p.Glu748Lys)
c.3280G>A (p.Glu1094Lys)
c.2716G>A (p.Glu906Lys)
c.1631G>A
c.2516G>A
c.3475G>A (p.Glu1159Lys)
c.3232G>A (p.Glu1078Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.7467484G>CCA304856597ARHGEF18c.2239G>C (p.Glu747Gln)
c.2554G>C (p.Glu852Gln)
c.2242G>C (p.Glu748Gln)
c.3280G>C (p.Glu1094Gln)
c.2716G>C (p.Glu906Gln)
c.1631G>C
c.2516G>C
c.3475G>C (p.Glu1159Gln)
c.3232G>C (p.Glu1078Gln)
 dbSNP gnomAD v3 gnomAD v4
19g.7467484G=CA2320932376ARHGEF18c.2239G= (p.Glu747=)
c.2554G= (p.Glu852=)
c.2242G= (p.Glu748=)
c.3280G= (p.Glu1094=)
c.2716G= (p.Glu906=)
c.1631G=
c.2516G=
c.3475G= (p.Glu1159=)
c.3232G= (p.Glu1078=)
19g.7467484G>TCA403088744ARHGEF18c.2239G>T (p.Glu747Ter)
c.2554G>T (p.Glu852Ter)
c.2242G>T (p.Glu748Ter)
c.3280G>T (p.Glu1094Ter)
c.2716G>T (p.Glu906Ter)
c.1631G>T
c.2516G>T
c.3475G>T (p.Glu1159Ter)
c.3232G>T (p.Glu1078Ter)
 gnomAD v4
19g.7467485A>CCA403088749ARHGEF18c.2240A>C (p.Glu747Ala)
c.2555A>C (p.Glu852Ala)
c.2243A>C (p.Glu748Ala)
c.3281A>C (p.Glu1094Ala)
c.2717A>C (p.Glu906Ala)
c.1632A>C
c.2517A>C
c.3476A>C (p.Glu1159Ala)
c.3233A>C (p.Glu1078Ala)
19g.7467485A>GCA403088747ARHGEF18c.2240A>G (p.Glu747Gly)
c.2555A>G (p.Glu852Gly)
c.2243A>G (p.Glu748Gly)
c.3281A>G (p.Glu1094Gly)
c.2717A>G (p.Glu906Gly)
c.1632A>G
c.2517A>G
c.3476A>G (p.Glu1159Gly)
c.3233A>G (p.Glu1078Gly)
 gnomAD v4
19g.7467485A>TCA403088748ARHGEF18c.2240A>T (p.Glu747Val)
c.2555A>T (p.Glu852Val)
c.2243A>T (p.Glu748Val)
c.3281A>T (p.Glu1094Val)
c.2717A>T (p.Glu906Val)
c.1632A>T
c.2517A>T
c.3476A>T (p.Glu1159Val)
c.3233A>T (p.Glu1078Val)
 gnomAD v4
19g.7467486G>ACA505401145ARHGEF18c.2241G>A (p.Glu747=)
c.2556G>A (p.Glu852=)
c.2244G>A (p.Glu748=)
c.3282G>A (p.Glu1094=)
c.2718G>A (p.Glu906=)
c.1633G>A
c.2518G>A
c.3477G>A (p.Glu1159=)
c.3234G>A (p.Glu1078=)
 dbSNP gnomAD v3 gnomAD v4
19g.7467486G>CCA403088751ARHGEF18c.2241G>C (p.Glu747Asp)
c.2556G>C (p.Glu852Asp)
c.2244G>C (p.Glu748Asp)
c.3282G>C (p.Glu1094Asp)
c.2718G>C (p.Glu906Asp)
c.1633G>C
c.2518G>C
c.3477G>C (p.Glu1159Asp)
c.3234G>C (p.Glu1078Asp)
19g.7467486G=CA2320932377ARHGEF18c.2241G= (p.Glu747=)
c.2556G= (p.Glu852=)
c.2244G= (p.Glu748=)
c.3282G= (p.Glu1094=)
c.2718G= (p.Glu906=)
c.1633G=
c.2518G=
c.3477G= (p.Glu1159=)
c.3234G= (p.Glu1078=)
19g.7467486G>TCA403088758ARHGEF18c.2241G>T (p.Glu747Asp)
c.2556G>T (p.Glu852Asp)
c.2244G>T (p.Glu748Asp)
c.3282G>T (p.Glu1094Asp)
c.2718G>T (p.Glu906Asp)
c.1633G>T
c.2518G>T
c.3477G>T (p.Glu1159Asp)
c.3234G>T (p.Glu1078Asp)
 gnomAD v4
19g.7467487G>ACA403088762ARHGEF18c.2242G>A (p.Ala748Thr)
c.2557G>A (p.Ala853Thr)
c.2245G>A (p.Ala749Thr)
c.3283G>A (p.Ala1095Thr)
c.2719G>A (p.Ala907Thr)
c.1634G>A
c.2519G>A
c.3478G>A (p.Ala1160Thr)
c.3235G>A (p.Ala1079Thr)
 gnomAD v4
19g.7467487G>CCA403088763ARHGEF18c.2242G>C (p.Ala748Pro)
c.2557G>C (p.Ala853Pro)
c.2245G>C (p.Ala749Pro)
c.3283G>C (p.Ala1095Pro)
c.2719G>C (p.Ala907Pro)
c.1634G>C
c.2519G>C
c.3478G>C (p.Ala1160Pro)
c.3235G>C (p.Ala1079Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.7467487G=CA2320932378ARHGEF18c.2242G= (p.Ala748=)
c.2557G= (p.Ala853=)
c.2245G= (p.Ala749=)
c.3283G= (p.Ala1095=)
c.2719G= (p.Ala907=)
c.1634G=
c.2519G=
c.3478G= (p.Ala1160=)
c.3235G= (p.Ala1079=)
19g.7467487G>TCA403088765ARHGEF18c.2242G>T (p.Ala748Ser)
c.2557G>T (p.Ala853Ser)
c.2245G>T (p.Ala749Ser)
c.3283G>T (p.Ala1095Ser)
c.2719G>T (p.Ala907Ser)
c.1634G>T
c.2519G>T
c.3478G>T (p.Ala1160Ser)
c.3235G>T (p.Ala1079Ser)
 gnomAD v4
19g.7467488C>ACA403088769ARHGEF18c.2243C>A (p.Ala748Glu)
c.2558C>A (p.Ala853Glu)
c.2246C>A (p.Ala749Glu)
c.3284C>A (p.Ala1095Glu)
c.2720C>A (p.Ala907Glu)
c.1635C>A
c.2520C>A
c.3479C>A (p.Ala1160Glu)
c.3236C>A (p.Ala1079Glu)
 gnomAD v4
19g.7467488C=CA2320932379ARHGEF18c.2243C= (p.Ala748=)
c.2558C= (p.Ala853=)
c.2246C= (p.Ala749=)
c.3284C= (p.Ala1095=)
c.2720C= (p.Ala907=)
c.1635C=
c.2520C=
c.3479C= (p.Ala1160=)
c.3236C= (p.Ala1079=)
19g.7467488C>GCA403088773ARHGEF18c.2243C>G (p.Ala748Gly)
c.2558C>G (p.Ala853Gly)
c.2246C>G (p.Ala749Gly)
c.3284C>G (p.Ala1095Gly)
c.2720C>G (p.Ala907Gly)
c.1635C>G
c.2520C>G
c.3479C>G (p.Ala1160Gly)
c.3236C>G (p.Ala1079Gly)
19g.7467488C>TCA403088780ARHGEF18c.2243C>T (p.Ala748Val)
c.2558C>T (p.Ala853Val)
c.2246C>T (p.Ala749Val)
c.3284C>T (p.Ala1095Val)
c.2720C>T (p.Ala907Val)
c.1635C>T
c.2520C>T
c.3479C>T (p.Ala1160Val)
c.3236C>T (p.Ala1079Val)
 dbSNP gnomAD v2 gnomAD v4
19g.7467489G>ACA304856602ARHGEF18c.2244G>A (p.Ala748=)
c.2559G>A (p.Ala853=)
c.2247G>A (p.Ala749=)
c.3285G>A (p.Ala1095=)
c.2721G>A (p.Ala907=)
c.1636G>A
c.2521G>A
c.3480G>A (p.Ala1160=)
c.3237G>A (p.Ala1079=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467489G>CCA505401151ARHGEF18c.2244G>C (p.Ala748=)
c.2559G>C (p.Ala853=)
c.2247G>C (p.Ala749=)
c.3285G>C (p.Ala1095=)
c.2721G>C (p.Ala907=)
c.1636G>C
c.2521G>C
c.3480G>C (p.Ala1160=)
c.3237G>C (p.Ala1079=)
19g.7467489G=CA2320932380ARHGEF18c.2244G= (p.Ala748=)
c.2559G= (p.Ala853=)
c.2247G= (p.Ala749=)
c.3285G= (p.Ala1095=)
c.2721G= (p.Ala907=)
c.1636G=
c.2521G=
c.3480G= (p.Ala1160=)
c.3237G= (p.Ala1079=)
19g.7467489G>TCA505401150ARHGEF18c.2244G>T (p.Ala748=)
c.2559G>T (p.Ala853=)
c.2247G>T (p.Ala749=)
c.3285G>T (p.Ala1095=)
c.2721G>T (p.Ala907=)
c.1636G>T
c.2521G>T
c.3480G>T (p.Ala1160=)
c.3237G>T (p.Ala1079=)
19g.7467490C>ACA505401152ARHGEF18c.2245C>A (p.Arg749=)
c.2560C>A (p.Arg854=)
c.2248C>A (p.Arg750=)
c.3286C>A (p.Arg1096=)
c.2722C>A (p.Arg908=)
c.1637C>A
c.2522C>A
c.3481C>A (p.Arg1161=)
c.3238C>A (p.Arg1080=)
19g.7467490C=CA2320932381ARHGEF18c.2245C= (p.Arg749=)
c.2560C= (p.Arg854=)
c.2248C= (p.Arg750=)
c.3286C= (p.Arg1096=)
c.2722C= (p.Arg908=)
c.1637C=
c.2522C=
c.3481C= (p.Arg1161=)
c.3238C= (p.Arg1080=)
19g.7467490C>GCA403088784ARHGEF18c.2245C>G (p.Arg749Gly)
c.2560C>G (p.Arg854Gly)
c.2248C>G (p.Arg750Gly)
c.3286C>G (p.Arg1096Gly)
c.2722C>G (p.Arg908Gly)
c.1637C>G
c.2522C>G
c.3481C>G (p.Arg1161Gly)
c.3238C>G (p.Arg1080Gly)
19g.7467490C>TCA403088785ARHGEF18c.2245C>T (p.Arg749Trp)
c.2560C>T (p.Arg854Trp)
c.2248C>T (p.Arg750Trp)
c.3286C>T (p.Arg1096Trp)
c.2722C>T (p.Arg908Trp)
c.1637C>T
c.2522C>T
c.3481C>T (p.Arg1161Trp)
c.3238C>T (p.Arg1080Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467491G>ACA403088795ARHGEF18c.2246G>A (p.Arg749Gln)
c.2561G>A (p.Arg854Gln)
c.2249G>A (p.Arg750Gln)
c.3287G>A (p.Arg1096Gln)
c.2723G>A (p.Arg908Gln)
c.1638G>A
c.2523G>A
c.3482G>A (p.Arg1161Gln)
c.3239G>A (p.Arg1080Gln)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.7467491G>CCA403088789ARHGEF18c.2246G>C (p.Arg749Pro)
c.2561G>C (p.Arg854Pro)
c.2249G>C (p.Arg750Pro)
c.3287G>C (p.Arg1096Pro)
c.2723G>C (p.Arg908Pro)
c.1638G>C
c.2523G>C
c.3482G>C (p.Arg1161Pro)
c.3239G>C (p.Arg1080Pro)
 gnomAD v4
19g.7467491G=CA2320932382ARHGEF18c.2246G= (p.Arg749=)
c.2561G= (p.Arg854=)
c.2249G= (p.Arg750=)
c.3287G= (p.Arg1096=)
c.2723G= (p.Arg908=)
c.1638G=
c.2523G=
c.3482G= (p.Arg1161=)
c.3239G= (p.Arg1080=)
19g.7467491G>TCA403088787ARHGEF18c.2246G>T (p.Arg749Leu)
c.2561G>T (p.Arg854Leu)
c.2249G>T (p.Arg750Leu)
c.3287G>T (p.Arg1096Leu)
c.2723G>T (p.Arg908Leu)
c.1638G>T
c.2523G>T
c.3482G>T (p.Arg1161Leu)
c.3239G>T (p.Arg1080Leu)
 ClinVar dbSNP gnomAD v4
19g.7467492G>ACA505401154ARHGEF18c.2247G>A (p.Arg749=)
c.2562G>A (p.Arg854=)
c.2250G>A (p.Arg750=)
c.3288G>A (p.Arg1096=)
c.2724G>A (p.Arg908=)
c.1639G>A
c.2524G>A
c.3483G>A (p.Arg1161=)
c.3240G>A (p.Arg1080=)
 dbSNP gnomAD v2 gnomAD v4
19g.7467492G>CCA505401156ARHGEF18c.2247G>C (p.Arg749=)
c.2562G>C (p.Arg854=)
c.2250G>C (p.Arg750=)
c.3288G>C (p.Arg1096=)
c.2724G>C (p.Arg908=)
c.1639G>C
c.2524G>C
c.3483G>C (p.Arg1161=)
c.3240G>C (p.Arg1080=)
19g.7467492G=CA2320932383ARHGEF18c.2247G= (p.Arg749=)
c.2562G= (p.Arg854=)
c.2250G= (p.Arg750=)
c.3288G= (p.Arg1096=)
c.2724G= (p.Arg908=)
c.1639G=
c.2524G=
c.3483G= (p.Arg1161=)
c.3240G= (p.Arg1080=)
19g.7467492G>TCA505401159ARHGEF18c.2247G>T (p.Arg749=)
c.2562G>T (p.Arg854=)
c.2250G>T (p.Arg750=)
c.3288G>T (p.Arg1096=)
c.2724G>T (p.Arg908=)
c.1639G>T
c.2524G>T
c.3483G>T (p.Arg1161=)
c.3240G>T (p.Arg1080=)
 gnomAD v4
19g.7467493C>ACA403088798ARHGEF18c.2248C>A (p.Gln750Lys)
c.2563C>A (p.Gln855Lys)
c.2251C>A (p.Gln751Lys)
c.3289C>A (p.Gln1097Lys)
c.2725C>A (p.Gln909Lys)
c.1640C>A
c.2525C>A
c.3484C>A (p.Gln1162Lys)
c.3241C>A (p.Gln1081Lys)
 gnomAD v4
19g.7467493C>GCA403088800ARHGEF18c.2248C>G (p.Gln750Glu)
c.2563C>G (p.Gln855Glu)
c.2251C>G (p.Gln751Glu)
c.3289C>G (p.Gln1097Glu)
c.2725C>G (p.Gln909Glu)
c.1640C>G
c.2525C>G
c.3484C>G (p.Gln1162Glu)
c.3241C>G (p.Gln1081Glu)
 gnomAD v4
19g.7467493C>TCA403088802ARHGEF18c.2248C>T (p.Gln750Ter)
c.2563C>T (p.Gln855Ter)
c.2251C>T (p.Gln751Ter)
c.3289C>T (p.Gln1097Ter)
c.2725C>T (p.Gln909Ter)
c.1640C>T
c.2525C>T
c.3484C>T (p.Gln1162Ter)
c.3241C>T (p.Gln1081Ter)
 gnomAD v4
19g.7467494A>CCA403088805ARHGEF18c.2249A>C (p.Gln750Pro)
c.2564A>C (p.Gln855Pro)
c.2252A>C (p.Gln751Pro)
c.3290A>C (p.Gln1097Pro)
c.2726A>C (p.Gln909Pro)
c.1641A>C
c.2526A>C
c.3485A>C (p.Gln1162Pro)
c.3242A>C (p.Gln1081Pro)
19g.7467494A>GCA403088806ARHGEF18c.2249A>G (p.Gln750Arg)
c.2564A>G (p.Gln855Arg)
c.2252A>G (p.Gln751Arg)
c.3290A>G (p.Gln1097Arg)
c.2726A>G (p.Gln909Arg)
c.1641A>G
c.2526A>G
c.3485A>G (p.Gln1162Arg)
c.3242A>G (p.Gln1081Arg)
 gnomAD v4
19g.7467494A>TCA403088807ARHGEF18c.2249A>T (p.Gln750Leu)
c.2564A>T (p.Gln855Leu)
c.2252A>T (p.Gln751Leu)
c.3290A>T (p.Gln1097Leu)
c.2726A>T (p.Gln909Leu)
c.1641A>T
c.2526A>T
c.3485A>T (p.Gln1162Leu)
c.3242A>T (p.Gln1081Leu)
 gnomAD v4
19g.7467495G>ACA505401162ARHGEF18c.2250G>A (p.Gln750=)
c.2565G>A (p.Gln855=)
c.2253G>A (p.Gln751=)
c.3291G>A (p.Gln1097=)
c.2727G>A (p.Gln909=)
c.1642G>A
c.2527G>A
c.3486G>A (p.Gln1162=)
c.3243G>A (p.Gln1081=)
 gnomAD v4
19g.7467495G>CCA403088808ARHGEF18c.2250G>C (p.Gln750His)
c.2565G>C (p.Gln855His)
c.2253G>C (p.Gln751His)
c.3291G>C (p.Gln1097His)
c.2727G>C (p.Gln909His)
c.1642G>C
c.2527G>C
c.3486G>C (p.Gln1162His)
c.3243G>C (p.Gln1081His)
 gnomAD v4
19g.7467495G>TCA403088810ARHGEF18c.2250G>T (p.Gln750His)
c.2565G>T (p.Gln855His)
c.2253G>T (p.Gln751His)
c.3291G>T (p.Gln1097His)
c.2727G>T (p.Gln909His)
c.1642G>T
c.2527G>T
c.3486G>T (p.Gln1162His)
c.3243G>T (p.Gln1081His)
 gnomAD v4
19g.7467496C>ACA403088812ARHGEF18c.2251C>A (p.Leu751Ile)
c.2566C>A (p.Leu856Ile)
c.2254C>A (p.Leu752Ile)
c.3292C>A (p.Leu1098Ile)
c.2728C>A (p.Leu910Ile)
c.1643C>A
c.2528C>A
c.3487C>A (p.Leu1163Ile)
c.3244C>A (p.Leu1082Ile)
 gnomAD v4
19g.7467496C>GCA403088813ARHGEF18c.2251C>G (p.Leu751Val)
c.2566C>G (p.Leu856Val)
c.2254C>G (p.Leu752Val)
c.3292C>G (p.Leu1098Val)
c.2728C>G (p.Leu910Val)
c.1643C>G
c.2528C>G
c.3487C>G (p.Leu1163Val)
c.3244C>G (p.Leu1082Val)
 gnomAD v4
19g.7467496C>TCA505401165ARHGEF18c.2251C>T (p.Leu751=)
c.2566C>T (p.Leu856=)
c.2254C>T (p.Leu752=)
c.3292C>T (p.Leu1098=)
c.2728C>T (p.Leu910=)
c.1643C>T
c.2528C>T
c.3487C>T (p.Leu1163=)
c.3244C>T (p.Leu1082=)
19g.7467497T>ACA403088815ARHGEF18c.2252T>A (p.Leu751Gln)
c.2567T>A (p.Leu856Gln)
c.2255T>A (p.Leu752Gln)
c.3293T>A (p.Leu1098Gln)
c.2729T>A (p.Leu910Gln)
c.1644T>A
c.2529T>A
c.3488T>A (p.Leu1163Gln)
c.3245T>A (p.Leu1082Gln)
19g.7467497T>CCA403088817ARHGEF18c.2252T>C (p.Leu751Pro)
c.2567T>C (p.Leu856Pro)
c.2255T>C (p.Leu752Pro)
c.3293T>C (p.Leu1098Pro)
c.2729T>C (p.Leu910Pro)
c.1644T>C
c.2529T>C
c.3488T>C (p.Leu1163Pro)
c.3245T>C (p.Leu1082Pro)
19g.7467497T>GCA403088818ARHGEF18c.2252T>G (p.Leu751Arg)
c.2567T>G (p.Leu856Arg)
c.2255T>G (p.Leu752Arg)
c.3293T>G (p.Leu1098Arg)
c.2729T>G (p.Leu910Arg)
c.1644T>G
c.2529T>G
c.3488T>G (p.Leu1163Arg)
c.3245T>G (p.Leu1082Arg)
19g.7467498A>CCA505401168ARHGEF18c.2253A>C (p.Leu751=)
c.2568A>C (p.Leu856=)
c.2256A>C (p.Leu752=)
c.3294A>C (p.Leu1098=)
c.2730A>C (p.Leu910=)
c.1645A>C
c.2530A>C
c.3489A>C (p.Leu1163=)
c.3246A>C (p.Leu1082=)
19g.7467498A>GCA505401169ARHGEF18c.2253A>G (p.Leu751=)
c.2568A>G (p.Leu856=)
c.2256A>G (p.Leu752=)
c.3294A>G (p.Leu1098=)
c.2730A>G (p.Leu910=)
c.1645A>G
c.2530A>G
c.3489A>G (p.Leu1163=)
c.3246A>G (p.Leu1082=)
 gnomAD v4
19g.7467498A>TCA505401170ARHGEF18c.2253A>T (p.Leu751=)
c.2568A>T (p.Leu856=)
c.2256A>T (p.Leu752=)
c.3294A>T (p.Leu1098=)
c.2730A>T (p.Leu910=)
c.1645A>T
c.2530A>T
c.3489A>T (p.Leu1163=)
c.3246A>T (p.Leu1082=)
19g.7467499C>ACA403088819ARHGEF18c.2254C>A (p.Arg752Ser)
c.2569C>A (p.Arg857Ser)
c.2257C>A (p.Arg753Ser)
c.3295C>A (p.Arg1099Ser)
c.2731C>A (p.Arg911Ser)
c.1646C>A
c.2531C>A
c.3490C>A (p.Arg1164Ser)
c.3247C>A (p.Arg1083Ser)
 gnomAD v4
19g.7467499C=CA2320932384ARHGEF18c.2254C= (p.Arg752=)
c.2569C= (p.Arg857=)
c.2257C= (p.Arg753=)
c.3295C= (p.Arg1099=)
c.2731C= (p.Arg911=)
c.1646C=
c.2531C=
c.3490C= (p.Arg1164=)
c.3247C= (p.Arg1083=)
19g.7467499C>GCA403088822ARHGEF18c.2254C>G (p.Arg752Gly)
c.2569C>G (p.Arg857Gly)
c.2257C>G (p.Arg753Gly)
c.3295C>G (p.Arg1099Gly)
c.2731C>G (p.Arg911Gly)
c.1646C>G
c.2531C>G
c.3490C>G (p.Arg1164Gly)
c.3247C>G (p.Arg1083Gly)
 gnomAD v4
19g.7467499C>TCA304856603ARHGEF18c.2254C>T (p.Arg752Cys)
c.2569C>T (p.Arg857Cys)
c.2257C>T (p.Arg753Cys)
c.3295C>T (p.Arg1099Cys)
c.2731C>T (p.Arg911Cys)
c.1646C>T
c.2531C>T
c.3490C>T (p.Arg1164Cys)
c.3247C>T (p.Arg1083Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467500G>ACA304856604ARHGEF18c.2255G>A (p.Arg752His)
c.2570G>A (p.Arg857His)
c.2258G>A (p.Arg753His)
c.3296G>A (p.Arg1099His)
c.2732G>A (p.Arg911His)
c.1647G>A
c.2532G>A
c.3491G>A (p.Arg1164His)
c.3248G>A (p.Arg1083His)
 dbSNP gnomAD v4
19g.7467500G>CCA403088827ARHGEF18c.2255G>C (p.Arg752Pro)
c.2570G>C (p.Arg857Pro)
c.2258G>C (p.Arg753Pro)
c.3296G>C (p.Arg1099Pro)
c.2732G>C (p.Arg911Pro)
c.1647G>C
c.2532G>C
c.3491G>C (p.Arg1164Pro)
c.3248G>C (p.Arg1083Pro)
19g.7467500G=CA2320932386ARHGEF18c.2255G= (p.Arg752=)
c.2570G= (p.Arg857=)
c.2258G= (p.Arg753=)
c.3296G= (p.Arg1099=)
c.2732G= (p.Arg911=)
c.1647G=
c.2532G=
c.3491G= (p.Arg1164=)
c.3248G= (p.Arg1083=)
19g.7467500G>TCA403088829ARHGEF18c.2255G>T (p.Arg752Leu)
c.2570G>T (p.Arg857Leu)
c.2258G>T (p.Arg753Leu)
c.3296G>T (p.Arg1099Leu)
c.2732G>T (p.Arg911Leu)
c.1647G>T
c.2532G>T
c.3491G>T (p.Arg1164Leu)
c.3248G>T (p.Arg1083Leu)
19g.7467500_7467524delinsGCGAGCGGCTGGAGCAGGAGCGGGCCA2320932385ARHGEF18c.2255_2279delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg752=)
c.2570_2594delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg857=)
c.2258_2282delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg753=)
c.3296_3320delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg1099=)
c.2732_2756delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg911=)
c.1647_1671delinsGCGAGCGGCTGGAGCAGGAGCGGGC
c.2532_2556delinsGCGAGCGGCTGGAGCAGGAGCGGGC
c.3491_3515delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg1164=)
c.3248_3272delinsGCGAGCGGCTGGAGCAGGAGCGGGC (p.Arg1083=)
19g.7467501C>ACA505401174ARHGEF18c.2256C>A (p.Arg752=)
c.2571C>A (p.Arg857=)
c.2259C>A (p.Arg753=)
c.3297C>A (p.Arg1099=)
c.2733C>A (p.Arg911=)
c.1648C>A
c.2533C>A
c.3492C>A (p.Arg1164=)
c.3249C>A (p.Arg1083=)
 gnomAD v4
19g.7467501C=CA2320932387ARHGEF18c.2256C= (p.Arg752=)
c.2571C= (p.Arg857=)
c.2259C= (p.Arg753=)
c.3297C= (p.Arg1099=)
c.2733C= (p.Arg911=)
c.1648C=
c.2533C=
c.3492C= (p.Arg1164=)
c.3249C= (p.Arg1083=)
19g.7467501C>GCA505401176ARHGEF18c.2256C>G (p.Arg752=)
c.2571C>G (p.Arg857=)
c.2259C>G (p.Arg753=)
c.3297C>G (p.Arg1099=)
c.2733C>G (p.Arg911=)
c.1648C>G
c.2533C>G
c.3492C>G (p.Arg1164=)
c.3249C>G (p.Arg1083=)
 gnomAD v4
19g.7467501C>TCA505401177ARHGEF18c.2256C>T (p.Arg752=)
c.2571C>T (p.Arg857=)
c.2259C>T (p.Arg753=)
c.3297C>T (p.Arg1099=)
c.2733C>T (p.Arg911=)
c.1648C>T
c.2533C>T
c.3492C>T (p.Arg1164=)
c.3249C>T (p.Arg1083=)
 dbSNP gnomAD v3 gnomAD v4
19g.7467506_7467529delCA16616863ARHGEF18c.2261_2284del (p.Arg754_Glu761del)
c.2576_2599del (p.Arg859_Glu866del)
c.2264_2287del (p.Arg755_Glu762del)
c.3302_3325del (p.Arg1101_Glu1108del)
c.2738_2761del (p.Arg913_Glu920del)
c.1653_1676del
c.2538_2561del
c.3497_3520del (p.Arg1166_Glu1173del)
c.3254_3277del (p.Arg1085_Glu1092del)
 ClinVar dbSNP
19g.7467502G>ACA304856606ARHGEF18c.2257G>A (p.Glu753Lys)
c.2572G>A (p.Glu858Lys)
c.2260G>A (p.Glu754Lys)
c.3298G>A (p.Glu1100Lys)
c.2734G>A (p.Glu912Lys)
c.1649G>A
c.2534G>A
c.3493G>A (p.Glu1165Lys)
c.3250G>A (p.Glu1084Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7467502G>CCA403088833ARHGEF18c.2257G>C (p.Glu753Gln)
c.2572G>C (p.Glu858Gln)
c.2260G>C (p.Glu754Gln)
c.3298G>C (p.Glu1100Gln)
c.2734G>C (p.Glu912Gln)
c.1649G>C
c.2534G>C
c.3493G>C (p.Glu1165Gln)
c.3250G>C (p.Glu1084Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.7467502G=CA2320932388ARHGEF18c.2257G= (p.Glu753=)
c.2572G= (p.Glu858=)
c.2260G= (p.Glu754=)
c.3298G= (p.Glu1100=)
c.2734G= (p.Glu912=)
c.1649G=
c.2534G=
c.3493G= (p.Glu1165=)
c.3250G= (p.Glu1084=)
19g.7467502G>TCA403088834ARHGEF18c.2257G>T (p.Glu753Ter)
c.2572G>T (p.Glu858Ter)
c.2260G>T (p.Glu754Ter)
c.3298G>T (p.Glu1100Ter)
c.2734G>T (p.Glu912Ter)
c.1649G>T
c.2534G>T
c.3493G>T (p.Glu1165Ter)
c.3250G>T (p.Glu1084Ter)
 gnomAD v4
19g.7467503A>CCA403088837ARHGEF18c.2258A>C (p.Glu753Ala)
c.2573A>C (p.Glu858Ala)
c.2261A>C (p.Glu754Ala)
c.3299A>C (p.Glu1100Ala)
c.2735A>C (p.Glu912Ala)
c.1650A>C
c.2535A>C
c.3494A>C (p.Glu1165Ala)
c.3251A>C (p.Glu1084Ala)
19g.7467503A>GCA403088838ARHGEF18c.2258A>G (p.Glu753Gly)
c.2573A>G (p.Glu858Gly)
c.2261A>G (p.Glu754Gly)
c.3299A>G (p.Glu1100Gly)
c.2735A>G (p.Glu912Gly)
c.1650A>G
c.2535A>G
c.3494A>G (p.Glu1165Gly)
c.3251A>G (p.Glu1084Gly)
 gnomAD v4
19g.7467503A>TCA403088840ARHGEF18c.2258A>T (p.Glu753Val)
c.2573A>T (p.Glu858Val)
c.2261A>T (p.Glu754Val)
c.3299A>T (p.Glu1100Val)
c.2735A>T (p.Glu912Val)
c.1650A>T
c.2535A>T
c.3494A>T (p.Glu1165Val)
c.3251A>T (p.Glu1084Val)
19g.7467504G>ACA505401179ARHGEF18c.2259G>A (p.Glu753=)
c.2574G>A (p.Glu858=)
c.2262G>A (p.Glu754=)
c.3300G>A (p.Glu1100=)
c.2736G>A (p.Glu912=)
c.1651G>A
c.2536G>A
c.3495G>A (p.Glu1165=)
c.3252G>A (p.Glu1084=)
 dbSNP gnomAD v4
19g.7467504G>CCA403088842ARHGEF18c.2259G>C (p.Glu753Asp)
c.2574G>C (p.Glu858Asp)
c.2262G>C (p.Glu754Asp)
c.3300G>C (p.Glu1100Asp)
c.2736G>C (p.Glu912Asp)
c.1651G>C
c.2536G>C
c.3495G>C (p.Glu1165Asp)
c.3252G>C (p.Glu1084Asp)
19g.7467504G=CA2320932389ARHGEF18c.2259G= (p.Glu753=)
c.2574G= (p.Glu858=)
c.2262G= (p.Glu754=)
c.3300G= (p.Glu1100=)
c.2736G= (p.Glu912=)
c.1651G=
c.2536G=
c.3495G= (p.Glu1165=)
c.3252G= (p.Glu1084=)
19g.7467504G>TCA403088845ARHGEF18c.2259G>T (p.Glu753Asp)
c.2574G>T (p.Glu858Asp)
c.2262G>T (p.Glu754Asp)
c.3300G>T (p.Glu1100Asp)
c.2736G>T (p.Glu912Asp)
c.1651G>T
c.2536G>T
c.3495G>T (p.Glu1165Asp)
c.3252G>T (p.Glu1084Asp)
19g.7467505C>ACA505401181ARHGEF18c.2260C>A (p.Arg754=)
c.2575C>A (p.Arg859=)
c.2263C>A (p.Arg755=)
c.3301C>A (p.Arg1101=)
c.2737C>A (p.Arg913=)
c.1652C>A
c.2537C>A
c.3496C>A (p.Arg1166=)
c.3253C>A (p.Arg1085=)
 gnomAD v4
19g.7467505C=CA2320932390ARHGEF18c.2260C= (p.Arg754=)
c.2575C= (p.Arg859=)
c.2263C= (p.Arg755=)
c.3301C= (p.Arg1101=)
c.2737C= (p.Arg913=)
c.1652C=
c.2537C=
c.3496C= (p.Arg1166=)
c.3253C= (p.Arg1085=)
19g.7467505C>GCA403088848ARHGEF18c.2260C>G (p.Arg754Gly)
c.2575C>G (p.Arg859Gly)
c.2263C>G (p.Arg755Gly)
c.3301C>G (p.Arg1101Gly)
c.2737C>G (p.Arg913Gly)
c.1652C>G
c.2537C>G
c.3496C>G (p.Arg1166Gly)
c.3253C>G (p.Arg1085Gly)
19g.7467505C>TCA403088846ARHGEF18c.2260C>T (p.Arg754Trp)
c.2575C>T (p.Arg859Trp)
c.2263C>T (p.Arg755Trp)
c.3301C>T (p.Arg1101Trp)
c.2737C>T (p.Arg913Trp)
c.1652C>T
c.2537C>T
c.3496C>T (p.Arg1166Trp)
c.3253C>T (p.Arg1085Trp)
 dbSNP gnomAD v2 gnomAD v4
19g.7467506G>ACA403088850ARHGEF18c.2261G>A (p.Arg754Gln)
c.2576G>A (p.Arg859Gln)
c.2264G>A (p.Arg755Gln)
c.3302G>A (p.Arg1101Gln)
c.2738G>A (p.Arg913Gln)
c.1653G>A
c.2538G>A
c.3497G>A (p.Arg1166Gln)
c.3254G>A (p.Arg1085Gln)
 dbSNP gnomAD v3 gnomAD v4
19g.7467506G>CCA403088853ARHGEF18c.2261G>C (p.Arg754Pro)
c.2576G>C (p.Arg859Pro)
c.2264G>C (p.Arg755Pro)
c.3302G>C (p.Arg1101Pro)
c.2738G>C (p.Arg913Pro)
c.1653G>C
c.2538G>C
c.3497G>C (p.Arg1166Pro)
c.3254G>C (p.Arg1085Pro)
 dbSNP gnomAD v4
19g.7467506G=CA2320932391ARHGEF18c.2261G= (p.Arg754=)
c.2576G= (p.Arg859=)
c.2264G= (p.Arg755=)
c.3302G= (p.Arg1101=)
c.2738G= (p.Arg913=)
c.1653G=
c.2538G=
c.3497G= (p.Arg1166=)
c.3254G= (p.Arg1085=)
19g.7467506G>TCA403088852ARHGEF18c.2261G>T (p.Arg754Leu)
c.2576G>T (p.Arg859Leu)
c.2264G>T (p.Arg755Leu)
c.3302G>T (p.Arg1101Leu)
c.2738G>T (p.Arg913Leu)
c.1653G>T
c.2538G>T
c.3497G>T (p.Arg1166Leu)
c.3254G>T (p.Arg1085Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.7467507G>ACA505401184ARHGEF18c.2262G>A (p.Arg754=)
c.2577G>A (p.Arg859=)
c.2265G>A (p.Arg755=)
c.3303G>A (p.Arg1101=)
c.2739G>A (p.Arg913=)
c.1654G>A
c.2539G>A
c.3498G>A (p.Arg1166=)
c.3255G>A (p.Arg1085=)
 gnomAD v4
19g.7467507G>CCA505401186ARHGEF18c.2262G>C (p.Arg754=)
c.2577G>C (p.Arg859=)
c.2265G>C (p.Arg755=)
c.3303G>C (p.Arg1101=)
c.2739G>C (p.Arg913=)
c.1654G>C
c.2539G>C
c.3498G>C (p.Arg1166=)
c.3255G>C (p.Arg1085=)
 gnomAD v4
19g.7467507G>TCA505401187ARHGEF18c.2262G>T (p.Arg754=)
c.2577G>T (p.Arg859=)
c.2265G>T (p.Arg755=)
c.3303G>T (p.Arg1101=)
c.2739G>T (p.Arg913=)
c.1654G>T
c.2539G>T
c.3498G>T (p.Arg1166=)
c.3255G>T (p.Arg1085=)
 ClinVar gnomAD v4
19g.7467515_7467535dupCA2320932392ARHGEF18c.2270_2290dup (p.Glu763_Arg764insGlnGluArgAlaGluLeuGlu)
c.2585_2605dup (p.Glu868_Arg869insGlnGluArgAlaGluLeuGlu)
c.2273_2293dup (p.Glu764_Arg765insGlnGluArgAlaGluLeuGlu)
c.3311_3331dup (p.Glu1110_Arg1111insGlnGluArgAlaGluLeuGlu)
c.2747_2767dup (p.Glu922_Arg923insGlnGluArgAlaGluLeuGlu)
c.1662_1682dup
c.2547_2567dup
c.3506_3526dup (p.Glu1175_Arg1176insGlnGluArgAlaGluLeuGlu)
c.3263_3283dup (p.Glu1094_Arg1095insGlnGluArgAlaGluLeuGlu)
 ClinVar dbSNP
19g.7467508C>ACA403088854ARHGEF18c.2263C>A (p.Leu755Met)
c.2578C>A (p.Leu860Met)
c.2266C>A (p.Leu756Met)
c.3304C>A (p.Leu1102Met)
c.2740C>A (p.Leu914Met)
c.1655C>A
c.2540C>A
c.3499C>A (p.Leu1167Met)
c.3256C>A (p.Leu1086Met)
 gnomAD v4
19g.7467508C>GCA403088856ARHGEF18c.2263C>G (p.Leu755Val)
c.2578C>G (p.Leu860Val)
c.2266C>G (p.Leu756Val)
c.3304C>G (p.Leu1102Val)
c.2740C>G (p.Leu914Val)
c.1655C>G
c.2540C>G
c.3499C>G (p.Leu1167Val)
c.3256C>G (p.Leu1086Val)
 gnomAD v4
19g.7467508C>TCA505401188ARHGEF18c.2263C>T (p.Leu755=)
c.2578C>T (p.Leu860=)
c.2266C>T (p.Leu756=)
c.3304C>T (p.Leu1102=)
c.2740C>T (p.Leu914=)
c.1655C>T
c.2540C>T
c.3499C>T (p.Leu1167=)
c.3256C>T (p.Leu1086=)
 gnomAD v4
19g.7467509T>ACA403088857ARHGEF18c.2264T>A (p.Leu755Gln)
c.2579T>A (p.Leu860Gln)
c.2267T>A (p.Leu756Gln)
c.3305T>A (p.Leu1102Gln)
c.2741T>A (p.Leu914Gln)
c.1656T>A
c.2541T>A
c.3500T>A (p.Leu1167Gln)
c.3257T>A (p.Leu1086Gln)
19g.7467509T>CCA403088859ARHGEF18c.2264T>C (p.Leu755Pro)
c.2579T>C (p.Leu860Pro)
c.2267T>C (p.Leu756Pro)
c.3305T>C (p.Leu1102Pro)
c.2741T>C (p.Leu914Pro)
c.1656T>C
c.2541T>C
c.3500T>C (p.Leu1167Pro)
c.3257T>C (p.Leu1086Pro)
 gnomAD v4
19g.7467509T>GCA403088861ARHGEF18c.2264T>G (p.Leu755Arg)
c.2579T>G (p.Leu860Arg)
c.2267T>G (p.Leu756Arg)
c.3305T>G (p.Leu1102Arg)
c.2741T>G (p.Leu914Arg)
c.1656T>G
c.2541T>G
c.3500T>G (p.Leu1167Arg)
c.3257T>G (p.Leu1086Arg)
19g.7467510G>ACA505401192ARHGEF18c.2265G>A (p.Leu755=)
c.2580G>A (p.Leu860=)
c.2268G>A (p.Leu756=)
c.3306G>A (p.Leu1102=)
c.2742G>A (p.Leu914=)
c.1657G>A
c.2542G>A
c.3501G>A (p.Leu1167=)
c.3258G>A (p.Leu1086=)
 gnomAD v4
19g.7467510G>CCA505401191ARHGEF18c.2265G>C (p.Leu755=)
c.2580G>C (p.Leu860=)
c.2268G>C (p.Leu756=)
c.3306G>C (p.Leu1102=)
c.2742G>C (p.Leu914=)
c.1657G>C
c.2542G>C
c.3501G>C (p.Leu1167=)
c.3258G>C (p.Leu1086=)
19g.7467510G>TCA505401190ARHGEF18c.2265G>T (p.Leu755=)
c.2580G>T (p.Leu860=)
c.2268G>T (p.Leu756=)
c.3306G>T (p.Leu1102=)
c.2742G>T (p.Leu914=)
c.1657G>T
c.2542G>T
c.3501G>T (p.Leu1167=)
c.3258G>T (p.Leu1086=)

Number of alleles fetched