Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43044783G>ACA450260173CUL7,KLC4n.1212C>T
c.3141C>T (p.Val1047=)
n.3702C>T
c.*1438C>T (n.*1438C>T)
n.3424C>T
n.3718C>T
c.1090C>T
n.3980C>T
c.3237C>T (p.Val1079=)
c.1633C>T
c.-553+1275G>A (n.-553+1275G>A)
c.3393C>T (p.Val1131=)
c.3297C>T (p.Val1099=)
c.1002C>T (p.Val334=)
c.3420C>T (p.Val1140=)
c.3324C>T (p.Val1108=)
c.3264C>T (p.Val1088=)
c.3168C>T (p.Val1056=)
 dbSNP gnomAD v2 gnomAD v4
6g.43044783G>CCA450260174CUL7,KLC4n.1212C>G
c.3141C>G (p.Val1047=)
n.3702C>G
c.*1438C>G (n.*1438C>G)
n.3424C>G
n.3718C>G
c.1090C>G
n.3980C>G
c.3237C>G (p.Val1079=)
c.1633C>G
c.-553+1275G>C (n.-553+1275G>C)
c.3393C>G (p.Val1131=)
c.3297C>G (p.Val1099=)
c.1002C>G (p.Val334=)
c.3420C>G (p.Val1140=)
c.3324C>G (p.Val1108=)
c.3264C>G (p.Val1088=)
c.3168C>G (p.Val1056=)
6g.43044783G=CA1624355696CUL7,KLC4n.1212C=
c.3141C= (p.Val1047=)
n.3702C=
c.*1438C= (n.*1438C=)
n.3424C=
n.3718C=
c.1090C=
n.3980C=
c.3237C= (p.Val1079=)
c.1633C=
c.-553+1275G= (n.-553+1275G=)
c.3393C= (p.Val1131=)
c.3297C= (p.Val1099=)
c.1002C= (p.Val334=)
c.3420C= (p.Val1140=)
c.3324C= (p.Val1108=)
c.3264C= (p.Val1088=)
c.3168C= (p.Val1056=)
6g.43044783G>TCA450260175CUL7,KLC4n.1212C>A
c.3141C>A (p.Val1047=)
n.3702C>A
c.*1438C>A (n.*1438C>A)
n.3424C>A
n.3718C>A
c.1090C>A
n.3980C>A
c.3237C>A (p.Val1079=)
c.1633C>A
c.-553+1275G>T (n.-553+1275G>T)
c.3393C>A (p.Val1131=)
c.3297C>A (p.Val1099=)
c.1002C>A (p.Val334=)
c.3420C>A (p.Val1140=)
c.3324C>A (p.Val1108=)
c.3264C>A (p.Val1088=)
c.3168C>A (p.Val1056=)
 gnomAD v4
6g.43044784A>CCA364207136CUL7,KLC4n.1211T>G
c.3140T>G (p.Val1047Gly)
n.3701T>G
c.*1437T>G (n.*1437T>G)
n.3423T>G
n.3717T>G
c.1089T>G
n.3979T>G
c.3236T>G (p.Val1079Gly)
c.1632T>G
c.-553+1276A>C (n.-553+1276A>C)
c.3392T>G (p.Val1131Gly)
c.3296T>G (p.Val1099Gly)
c.1001T>G (p.Val334Gly)
c.3419T>G (p.Val1140Gly)
c.3323T>G (p.Val1108Gly)
c.3263T>G (p.Val1088Gly)
c.3167T>G (p.Val1056Gly)
6g.43044784A>GCA364207138CUL7,KLC4n.1211T>C
c.3140T>C (p.Val1047Ala)
n.3701T>C
c.*1437T>C (n.*1437T>C)
n.3423T>C
n.3717T>C
c.1089T>C
n.3979T>C
c.3236T>C (p.Val1079Ala)
c.1632T>C
c.-553+1276A>G (n.-553+1276A>G)
c.3392T>C (p.Val1131Ala)
c.3296T>C (p.Val1099Ala)
c.1001T>C (p.Val334Ala)
c.3419T>C (p.Val1140Ala)
c.3323T>C (p.Val1108Ala)
c.3263T>C (p.Val1088Ala)
c.3167T>C (p.Val1056Ala)
6g.43044784A>TCA364207142CUL7,KLC4n.1211T>A
c.3140T>A (p.Val1047Asp)
n.3701T>A
c.*1437T>A (n.*1437T>A)
n.3423T>A
n.3717T>A
c.1089T>A
n.3979T>A
c.3236T>A (p.Val1079Asp)
c.1632T>A
c.-553+1276A>T (n.-553+1276A>T)
c.3392T>A (p.Val1131Asp)
c.3296T>A (p.Val1099Asp)
c.1001T>A (p.Val334Asp)
c.3419T>A (p.Val1140Asp)
c.3323T>A (p.Val1108Asp)
c.3263T>A (p.Val1088Asp)
c.3167T>A (p.Val1056Asp)
6g.43044785C>ACA364207148CUL7,KLC4n.1210G>T
c.3139G>T (p.Val1047Phe)
n.3700G>T
c.*1436G>T (n.*1436G>T)
n.3422G>T
n.3716G>T
c.1088G>T
n.3978G>T
c.3235G>T (p.Val1079Phe)
c.1631G>T
c.-553+1277C>A (n.-553+1277C>A)
c.3391G>T (p.Val1131Phe)
c.3295G>T (p.Val1099Phe)
c.1000G>T (p.Val334Phe)
c.3418G>T (p.Val1140Phe)
c.3322G>T (p.Val1108Phe)
c.3262G>T (p.Val1088Phe)
c.3166G>T (p.Val1056Phe)
6g.43044785C=CA1624355697CUL7,KLC4n.1210G=
c.3139G= (p.Val1047=)
n.3700G=
c.*1436G= (n.*1436G=)
n.3422G=
n.3716G=
c.1088G=
n.3978G=
c.3235G= (p.Val1079=)
c.1631G=
c.-553+1277C= (n.-553+1277C=)
c.3391G= (p.Val1131=)
c.3295G= (p.Val1099=)
c.1000G= (p.Val334=)
c.3418G= (p.Val1140=)
c.3322G= (p.Val1108=)
c.3262G= (p.Val1088=)
c.3166G= (p.Val1056=)
6g.43044785C>GCA364207153CUL7,KLC4n.1210G>C
c.3139G>C (p.Val1047Leu)
n.3700G>C
c.*1436G>C (n.*1436G>C)
n.3422G>C
n.3716G>C
c.1088G>C
n.3978G>C
c.3235G>C (p.Val1079Leu)
c.1631G>C
c.-553+1277C>G (n.-553+1277C>G)
c.3391G>C (p.Val1131Leu)
c.3295G>C (p.Val1099Leu)
c.1000G>C (p.Val334Leu)
c.3418G>C (p.Val1140Leu)
c.3322G>C (p.Val1108Leu)
c.3262G>C (p.Val1088Leu)
c.3166G>C (p.Val1056Leu)
6g.43044785C>TCA364207157CUL7,KLC4n.1210G>A
c.3139G>A (p.Val1047Ile)
n.3700G>A
c.*1436G>A (n.*1436G>A)
n.3422G>A
n.3716G>A
c.1088G>A
n.3978G>A
c.3235G>A (p.Val1079Ile)
c.1631G>A
c.-553+1277C>T (n.-553+1277C>T)
c.3391G>A (p.Val1131Ile)
c.3295G>A (p.Val1099Ile)
c.1000G>A (p.Val334Ile)
c.3418G>A (p.Val1140Ile)
c.3322G>A (p.Val1108Ile)
c.3262G>A (p.Val1088Ile)
c.3166G>A (p.Val1056Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.43044786C>ACA450260176CUL7,KLC4n.1209G>T
c.3138G>T (p.Leu1046=)
n.3699G>T
c.*1435G>T (n.*1435G>T)
n.3421G>T
n.3715G>T
c.1087G>T
n.3977G>T
c.3234G>T (p.Leu1078=)
c.1630G>T
c.-553+1278C>A (n.-553+1278C>A)
c.3390G>T (p.Leu1130=)
c.3294G>T (p.Leu1098=)
c.999G>T (p.Leu333=)
c.3417G>T (p.Leu1139=)
c.3321G>T (p.Leu1107=)
c.3261G>T (p.Leu1087=)
c.3165G>T (p.Leu1055=)
6g.43044786C>GCA450260177CUL7,KLC4n.1209G>C
c.3138G>C (p.Leu1046=)
n.3699G>C
c.*1435G>C (n.*1435G>C)
n.3421G>C
n.3715G>C
c.1087G>C
n.3977G>C
c.3234G>C (p.Leu1078=)
c.1630G>C
c.-553+1278C>G (n.-553+1278C>G)
c.3390G>C (p.Leu1130=)
c.3294G>C (p.Leu1098=)
c.999G>C (p.Leu333=)
c.3417G>C (p.Leu1139=)
c.3321G>C (p.Leu1107=)
c.3261G>C (p.Leu1087=)
c.3165G>C (p.Leu1055=)
6g.43044786C>TCA450260178CUL7,KLC4n.1209G>A
c.3138G>A (p.Leu1046=)
n.3699G>A
c.*1435G>A (n.*1435G>A)
n.3421G>A
n.3715G>A
c.1087G>A
n.3977G>A
c.3234G>A (p.Leu1078=)
c.1630G>A
c.-553+1278C>T (n.-553+1278C>T)
c.3390G>A (p.Leu1130=)
c.3294G>A (p.Leu1098=)
c.999G>A (p.Leu333=)
c.3417G>A (p.Leu1139=)
c.3321G>A (p.Leu1107=)
c.3261G>A (p.Leu1087=)
c.3165G>A (p.Leu1055=)
6g.43044787A=CA1624355698CUL7,KLC4n.1208T=
c.3137T= (p.Leu1046=)
n.3698T=
c.*1434T= (n.*1434T=)
n.3420T=
n.3714T=
c.1086T=
n.3976T=
c.3233T= (p.Leu1078=)
c.1629T=
c.-553+1279A= (n.-553+1279A=)
c.3389T= (p.Leu1130=)
c.3293T= (p.Leu1098=)
c.998T= (p.Leu333=)
c.3416T= (p.Leu1139=)
c.3320T= (p.Leu1107=)
c.3260T= (p.Leu1087=)
c.3164T= (p.Leu1055=)
6g.43044787A>CCA364207166CUL7,KLC4n.1208T>G
c.3137T>G (p.Leu1046Arg)
n.3698T>G
c.*1434T>G (n.*1434T>G)
n.3420T>G
n.3714T>G
c.1086T>G
n.3976T>G
c.3233T>G (p.Leu1078Arg)
c.1629T>G
c.-553+1279A>C (n.-553+1279A>C)
c.3389T>G (p.Leu1130Arg)
c.3293T>G (p.Leu1098Arg)
c.998T>G (p.Leu333Arg)
c.3416T>G (p.Leu1139Arg)
c.3320T>G (p.Leu1107Arg)
c.3260T>G (p.Leu1087Arg)
c.3164T>G (p.Leu1055Arg)
6g.43044787A>GCA364207161CUL7,KLC4n.1208T>C
c.3137T>C (p.Leu1046Pro)
n.3698T>C
c.*1434T>C (n.*1434T>C)
n.3420T>C
n.3714T>C
c.1086T>C
n.3976T>C
c.3233T>C (p.Leu1078Pro)
c.1629T>C
c.-553+1279A>G (n.-553+1279A>G)
c.3389T>C (p.Leu1130Pro)
c.3293T>C (p.Leu1098Pro)
c.998T>C (p.Leu333Pro)
c.3416T>C (p.Leu1139Pro)
c.3320T>C (p.Leu1107Pro)
c.3260T>C (p.Leu1087Pro)
c.3164T>C (p.Leu1055Pro)
 ClinVar dbSNP gnomAD v4
6g.43044787A>TCA364207164CUL7,KLC4n.1208T>A
c.3137T>A (p.Leu1046Gln)
n.3698T>A
c.*1434T>A (n.*1434T>A)
n.3420T>A
n.3714T>A
c.1086T>A
n.3976T>A
c.3233T>A (p.Leu1078Gln)
c.1629T>A
c.-553+1279A>T (n.-553+1279A>T)
c.3389T>A (p.Leu1130Gln)
c.3293T>A (p.Leu1098Gln)
c.998T>A (p.Leu333Gln)
c.3416T>A (p.Leu1139Gln)
c.3320T>A (p.Leu1107Gln)
c.3260T>A (p.Leu1087Gln)
c.3164T>A (p.Leu1055Gln)
6g.43044787_43044788delinsAGCA1624355699CUL7,KLC4n.1207_1208delinsCT
c.3136_3137delinsCT (p.Leu1046=)
n.3697_3698delinsCT
c.*1433_*1434delinsCT (n.*1433_*1434delinsCT)
n.3419_3420delinsCT
n.3713_3714delinsCT
c.1085_1086delinsCT
n.3975_3976delinsCT
c.3232_3233delinsCT (p.Leu1078=)
c.1628_1629delinsCT
c.-553+1279_-553+1280delinsAG (n.-553+1279_-553+1280delinsAG)
c.3388_3389delinsCT (p.Leu1130=)
c.3292_3293delinsCT (p.Leu1098=)
c.997_998delinsCT (p.Leu333=)
c.3415_3416delinsCT (p.Leu1139=)
c.3319_3320delinsCT (p.Leu1107=)
c.3259_3260delinsCT (p.Leu1087=)
c.3163_3164delinsCT (p.Leu1055=)
6g.43044788G>ACA450260180CUL7,KLC4n.1207C>T
c.3136C>T (p.Leu1046=)
n.3697C>T
c.*1433C>T (n.*1433C>T)
n.3419C>T
n.3713C>T
c.1085C>T
n.3975C>T
c.3232C>T (p.Leu1078=)
c.1628C>T
c.-553+1280G>A (n.-553+1280G>A)
c.3388C>T (p.Leu1130=)
c.3292C>T (p.Leu1098=)
c.997C>T (p.Leu333=)
c.3415C>T (p.Leu1139=)
c.3319C>T (p.Leu1107=)
c.3259C>T (p.Leu1087=)
c.3163C>T (p.Leu1055=)
6g.43044788G>CCA364207168CUL7,KLC4n.1207C>G
c.3136C>G (p.Leu1046Val)
n.3697C>G
c.*1433C>G (n.*1433C>G)
n.3419C>G
n.3713C>G
c.1085C>G
n.3975C>G
c.3232C>G (p.Leu1078Val)
c.1628C>G
c.-553+1280G>C (n.-553+1280G>C)
c.3388C>G (p.Leu1130Val)
c.3292C>G (p.Leu1098Val)
c.997C>G (p.Leu333Val)
c.3415C>G (p.Leu1139Val)
c.3319C>G (p.Leu1107Val)
c.3259C>G (p.Leu1087Val)
c.3163C>G (p.Leu1055Val)
6g.43044788G>TCA364207171CUL7,KLC4n.1207C>A
c.3136C>A (p.Leu1046Met)
n.3697C>A
c.*1433C>A (n.*1433C>A)
n.3419C>A
n.3713C>A
c.1085C>A
n.3975C>A
c.3232C>A (p.Leu1078Met)
c.1628C>A
c.-553+1280G>T (n.-553+1280G>T)
c.3388C>A (p.Leu1130Met)
c.3292C>A (p.Leu1098Met)
c.997C>A (p.Leu333Met)
c.3415C>A (p.Leu1139Met)
c.3319C>A (p.Leu1107Met)
c.3259C>A (p.Leu1087Met)
c.3163C>A (p.Leu1055Met)
6g.43044790delCA450260179CUL7,KLC4n.1207del
c.3136del (p.Leu1046TrpfsTer?)
n.3697del
c.*1433del (n.*1433del)
n.3419del
n.3713del
c.1085del
n.3975del
c.3232del (p.Leu1078TrpfsTer?)
c.1628del
c.-553+1282del (n.-553+1282del)
c.3388del (p.Leu1130TrpfsTer?)
c.3292del (p.Leu1098TrpfsTer?)
c.997del (p.Leu333TrpfsTer?)
c.3415del (p.Leu1139TrpfsTer?)
c.3319del (p.Leu1107TrpfsTer?)
c.3259del (p.Leu1087TrpfsTer?)
c.3163del (p.Leu1055TrpfsTer?)
 ClinVar dbSNP gnomAD v4
6g.43044789G>ACA450260181CUL7,KLC4n.1206C>T
c.3135C>T (p.Ala1045=)
n.3696C>T
c.*1432C>T (n.*1432C>T)
n.3418C>T
n.3712C>T
c.1084C>T
n.3974C>T
c.3231C>T (p.Ala1077=)
c.1627C>T
c.-553+1281G>A (n.-553+1281G>A)
c.3387C>T (p.Ala1129=)
c.3291C>T (p.Ala1097=)
c.996C>T (p.Ala332=)
c.3414C>T (p.Ala1138=)
c.3318C>T (p.Ala1106=)
c.3258C>T (p.Ala1086=)
c.3162C>T (p.Ala1054=)
6g.43044789G>CCA450260182CUL7,KLC4n.1206C>G
c.3135C>G (p.Ala1045=)
n.3696C>G
c.*1432C>G (n.*1432C>G)
n.3418C>G
n.3712C>G
c.1084C>G
n.3974C>G
c.3231C>G (p.Ala1077=)
c.1627C>G
c.-553+1281G>C (n.-553+1281G>C)
c.3387C>G (p.Ala1129=)
c.3291C>G (p.Ala1097=)
c.996C>G (p.Ala332=)
c.3414C>G (p.Ala1138=)
c.3318C>G (p.Ala1106=)
c.3258C>G (p.Ala1086=)
c.3162C>G (p.Ala1054=)
6g.43044789G>TCA450260183CUL7,KLC4n.1206C>A
c.3135C>A (p.Ala1045=)
n.3696C>A
c.*1432C>A (n.*1432C>A)
n.3418C>A
n.3712C>A
c.1084C>A
n.3974C>A
c.3231C>A (p.Ala1077=)
c.1627C>A
c.-553+1281G>T (n.-553+1281G>T)
c.3387C>A (p.Ala1129=)
c.3291C>A (p.Ala1097=)
c.996C>A (p.Ala332=)
c.3414C>A (p.Ala1138=)
c.3318C>A (p.Ala1106=)
c.3258C>A (p.Ala1086=)
c.3162C>A (p.Ala1054=)
6g.43044790G>ACA364207173CUL7,KLC4n.1205C>T
c.3134C>T (p.Ala1045Val)
n.3695C>T
c.*1431C>T (n.*1431C>T)
n.3417C>T
n.3711C>T
c.1083C>T
n.3973C>T
c.3230C>T (p.Ala1077Val)
c.1626C>T
c.-553+1282G>A (n.-553+1282G>A)
c.3386C>T (p.Ala1129Val)
c.3290C>T (p.Ala1097Val)
c.995C>T (p.Ala332Val)
c.3413C>T (p.Ala1138Val)
c.3317C>T (p.Ala1106Val)
c.3257C>T (p.Ala1086Val)
c.3161C>T (p.Ala1054Val)
6g.43044790G>CCA364207175CUL7,KLC4n.1205C>G
c.3134C>G (p.Ala1045Gly)
n.3695C>G
c.*1431C>G (n.*1431C>G)
n.3417C>G
n.3711C>G
c.1083C>G
n.3973C>G
c.3230C>G (p.Ala1077Gly)
c.1626C>G
c.-553+1282G>C (n.-553+1282G>C)
c.3386C>G (p.Ala1129Gly)
c.3290C>G (p.Ala1097Gly)
c.995C>G (p.Ala332Gly)
c.3413C>G (p.Ala1138Gly)
c.3317C>G (p.Ala1106Gly)
c.3257C>G (p.Ala1086Gly)
c.3161C>G (p.Ala1054Gly)
6g.43044790G=CA1624355700CUL7,KLC4n.1205C=
c.3134C= (p.Ala1045=)
n.3695C=
c.*1431C= (n.*1431C=)
n.3417C=
n.3711C=
c.1083C=
n.3973C=
c.3230C= (p.Ala1077=)
c.1626C=
c.-553+1282G= (n.-553+1282G=)
c.3386C= (p.Ala1129=)
c.3290C= (p.Ala1097=)
c.995C= (p.Ala332=)
c.3413C= (p.Ala1138=)
c.3317C= (p.Ala1106=)
c.3257C= (p.Ala1086=)
c.3161C= (p.Ala1054=)
6g.43044790G>TCA364207178CUL7,KLC4n.1205C>A
c.3134C>A (p.Ala1045Asp)
n.3695C>A
c.*1431C>A (n.*1431C>A)
n.3417C>A
n.3711C>A
c.1083C>A
n.3973C>A
c.3230C>A (p.Ala1077Asp)
c.1626C>A
c.-553+1282G>T (n.-553+1282G>T)
c.3386C>A (p.Ala1129Asp)
c.3290C>A (p.Ala1097Asp)
c.995C>A (p.Ala332Asp)
c.3413C>A (p.Ala1138Asp)
c.3317C>A (p.Ala1106Asp)
c.3257C>A (p.Ala1086Asp)
c.3161C>A (p.Ala1054Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.43044791C>ACA364207181CUL7,KLC4n.1204G>T
c.3133G>T (p.Ala1045Ser)
n.3694G>T
c.*1430G>T (n.*1430G>T)
n.3416G>T
n.3710G>T
c.1082G>T
n.3972G>T
c.3229G>T (p.Ala1077Ser)
c.1625G>T
c.-553+1283C>A (n.-553+1283C>A)
c.3385G>T (p.Ala1129Ser)
c.3289G>T (p.Ala1097Ser)
c.994G>T (p.Ala332Ser)
c.3412G>T (p.Ala1138Ser)
c.3316G>T (p.Ala1106Ser)
c.3256G>T (p.Ala1086Ser)
c.3160G>T (p.Ala1054Ser)
6g.43044791C>GCA364207185CUL7,KLC4n.1204G>C
c.3133G>C (p.Ala1045Pro)
n.3694G>C
c.*1430G>C (n.*1430G>C)
n.3416G>C
n.3710G>C
c.1082G>C
n.3972G>C
c.3229G>C (p.Ala1077Pro)
c.1625G>C
c.-553+1283C>G (n.-553+1283C>G)
c.3385G>C (p.Ala1129Pro)
c.3289G>C (p.Ala1097Pro)
c.994G>C (p.Ala332Pro)
c.3412G>C (p.Ala1138Pro)
c.3316G>C (p.Ala1106Pro)
c.3256G>C (p.Ala1086Pro)
c.3160G>C (p.Ala1054Pro)
6g.43044791C>TCA364207183CUL7,KLC4n.1204G>A
c.3133G>A (p.Ala1045Thr)
n.3694G>A
c.*1430G>A (n.*1430G>A)
n.3416G>A
n.3710G>A
c.1082G>A
n.3972G>A
c.3229G>A (p.Ala1077Thr)
c.1625G>A
c.-553+1283C>T (n.-553+1283C>T)
c.3385G>A (p.Ala1129Thr)
c.3289G>A (p.Ala1097Thr)
c.994G>A (p.Ala332Thr)
c.3412G>A (p.Ala1138Thr)
c.3316G>A (p.Ala1106Thr)
c.3256G>A (p.Ala1086Thr)
c.3160G>A (p.Ala1054Thr)
 gnomAD v4
6g.43044792C>ACA364207188CUL7,KLC4n.1203G>T
c.3132G>T (p.Glu1044Asp)
n.3693G>T
c.*1429G>T (n.*1429G>T)
n.3415G>T
n.3709G>T
c.1081G>T
n.3971G>T
c.3228G>T (p.Glu1076Asp)
c.1624G>T
c.-553+1284C>A (n.-553+1284C>A)
c.3384G>T (p.Glu1128Asp)
c.3288G>T (p.Glu1096Asp)
c.993G>T (p.Glu331Asp)
c.3411G>T (p.Glu1137Asp)
c.3315G>T (p.Glu1105Asp)
c.3255G>T (p.Glu1085Asp)
c.3159G>T (p.Glu1053Asp)
6g.43044792C>GCA364207190CUL7,KLC4n.1203G>C
c.3132G>C (p.Glu1044Asp)
n.3693G>C
c.*1429G>C (n.*1429G>C)
n.3415G>C
n.3709G>C
c.1081G>C
n.3971G>C
c.3228G>C (p.Glu1076Asp)
c.1624G>C
c.-553+1284C>G (n.-553+1284C>G)
c.3384G>C (p.Glu1128Asp)
c.3288G>C (p.Glu1096Asp)
c.993G>C (p.Glu331Asp)
c.3411G>C (p.Glu1137Asp)
c.3315G>C (p.Glu1105Asp)
c.3255G>C (p.Glu1085Asp)
c.3159G>C (p.Glu1053Asp)
6g.43044792C>TCA450260184CUL7,KLC4n.1203G>A
c.3132G>A (p.Glu1044=)
n.3693G>A
c.*1429G>A (n.*1429G>A)
n.3415G>A
n.3709G>A
c.1081G>A
n.3971G>A
c.3228G>A (p.Glu1076=)
c.1624G>A
c.-553+1284C>T (n.-553+1284C>T)
c.3384G>A (p.Glu1128=)
c.3288G>A (p.Glu1096=)
c.993G>A (p.Glu331=)
c.3411G>A (p.Glu1137=)
c.3315G>A (p.Glu1105=)
c.3255G>A (p.Glu1085=)
c.3159G>A (p.Glu1053=)
6g.43044793T>ACA364207194CUL7,KLC4n.1202A>T
c.3131A>T (p.Glu1044Val)
n.3692A>T
c.*1428A>T (n.*1428A>T)
n.3414A>T
n.3708A>T
c.1080A>T
n.3970A>T
c.3227A>T (p.Glu1076Val)
c.1623A>T
c.-553+1285T>A (n.-553+1285T>A)
c.3383A>T (p.Glu1128Val)
c.3287A>T (p.Glu1096Val)
c.992A>T (p.Glu331Val)
c.3410A>T (p.Glu1137Val)
c.3314A>T (p.Glu1105Val)
c.3254A>T (p.Glu1085Val)
c.3158A>T (p.Glu1053Val)
6g.43044793T>CCA364207196CUL7,KLC4n.1202A>G
c.3131A>G (p.Glu1044Gly)
n.3692A>G
c.*1428A>G (n.*1428A>G)
n.3414A>G
n.3708A>G
c.1080A>G
n.3970A>G
c.3227A>G (p.Glu1076Gly)
c.1623A>G
c.-553+1285T>C (n.-553+1285T>C)
c.3383A>G (p.Glu1128Gly)
c.3287A>G (p.Glu1096Gly)
c.992A>G (p.Glu331Gly)
c.3410A>G (p.Glu1137Gly)
c.3314A>G (p.Glu1105Gly)
c.3254A>G (p.Glu1085Gly)
c.3158A>G (p.Glu1053Gly)
6g.43044793T>GCA364207199CUL7,KLC4n.1202A>C
c.3131A>C (p.Glu1044Ala)
n.3692A>C
c.*1428A>C (n.*1428A>C)
n.3414A>C
n.3708A>C
c.1080A>C
n.3970A>C
c.3227A>C (p.Glu1076Ala)
c.1623A>C
c.-553+1285T>G (n.-553+1285T>G)
c.3383A>C (p.Glu1128Ala)
c.3287A>C (p.Glu1096Ala)
c.992A>C (p.Glu331Ala)
c.3410A>C (p.Glu1137Ala)
c.3314A>C (p.Glu1105Ala)
c.3254A>C (p.Glu1085Ala)
c.3158A>C (p.Glu1053Ala)
6g.43044794C>ACA364207202CUL7,KLC4n.1201G>T
c.3130G>T (p.Glu1044Ter)
n.3691G>T
c.*1427G>T (n.*1427G>T)
n.3413G>T
n.3707G>T
c.1079G>T
n.3969G>T
c.3226G>T (p.Glu1076Ter)
c.1622G>T
c.-553+1286C>A (n.-553+1286C>A)
c.3382G>T (p.Glu1128Ter)
c.3286G>T (p.Glu1096Ter)
c.991G>T (p.Glu331Ter)
c.3409G>T (p.Glu1137Ter)
c.3313G>T (p.Glu1105Ter)
c.3253G>T (p.Glu1085Ter)
c.3157G>T (p.Glu1053Ter)
6g.43044794C=CA1624355701CUL7,KLC4n.1201G=
c.3130G= (p.Glu1044=)
n.3691G=
c.*1427G= (n.*1427G=)
n.3413G=
n.3707G=
c.1079G=
n.3969G=
c.3226G= (p.Glu1076=)
c.1622G=
c.-553+1286C= (n.-553+1286C=)
c.3382G= (p.Glu1128=)
c.3286G= (p.Glu1096=)
c.991G= (p.Glu331=)
c.3409G= (p.Glu1137=)
c.3313G= (p.Glu1105=)
c.3253G= (p.Glu1085=)
c.3157G= (p.Glu1053=)
6g.43044794C>GCA364207204CUL7,KLC4n.1201G>C
c.3130G>C (p.Glu1044Gln)
n.3691G>C
c.*1427G>C (n.*1427G>C)
n.3413G>C
n.3707G>C
c.1079G>C
n.3969G>C
c.3226G>C (p.Glu1076Gln)
c.1622G>C
c.-553+1286C>G (n.-553+1286C>G)
c.3382G>C (p.Glu1128Gln)
c.3286G>C (p.Glu1096Gln)
c.991G>C (p.Glu331Gln)
c.3409G>C (p.Glu1137Gln)
c.3313G>C (p.Glu1105Gln)
c.3253G>C (p.Glu1085Gln)
c.3157G>C (p.Glu1053Gln)
6g.43044794C>TCA3813577CUL7,KLC4n.1201G>A
c.3130G>A (p.Glu1044Lys)
n.3691G>A
c.*1427G>A (n.*1427G>A)
n.3413G>A
n.3707G>A
c.1079G>A
n.3969G>A
c.3226G>A (p.Glu1076Lys)
c.1622G>A
c.-553+1286C>T (n.-553+1286C>T)
c.3382G>A (p.Glu1128Lys)
c.3286G>A (p.Glu1096Lys)
c.991G>A (p.Glu331Lys)
c.3409G>A (p.Glu1137Lys)
c.3313G>A (p.Glu1105Lys)
c.3253G>A (p.Glu1085Lys)
c.3157G>A (p.Glu1053Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044795C>ACA364207209CUL7,KLC4n.1200G>T
c.3129G>T (p.Trp1043Cys)
n.3690G>T
c.*1426G>T (n.*1426G>T)
n.3412G>T
n.3706G>T
c.1078G>T
n.3968G>T
c.3225G>T (p.Trp1075Cys)
c.1621G>T
c.-553+1287C>A (n.-553+1287C>A)
c.3381G>T (p.Trp1127Cys)
c.3285G>T (p.Trp1095Cys)
c.990G>T (p.Trp330Cys)
c.3408G>T (p.Trp1136Cys)
c.3312G>T (p.Trp1104Cys)
c.3252G>T (p.Trp1084Cys)
c.3156G>T (p.Trp1052Cys)
6g.43044795C=CA1624355702CUL7,KLC4n.1200G=
c.3129G= (p.Trp1043=)
n.3690G=
c.*1426G= (n.*1426G=)
n.3412G=
n.3706G=
c.1078G=
n.3968G=
c.3225G= (p.Trp1075=)
c.1621G=
c.-553+1287C= (n.-553+1287C=)
c.3381G= (p.Trp1127=)
c.3285G= (p.Trp1095=)
c.990G= (p.Trp330=)
c.3408G= (p.Trp1136=)
c.3312G= (p.Trp1104=)
c.3252G= (p.Trp1084=)
c.3156G= (p.Trp1052=)
6g.43044795C>GCA364207211CUL7,KLC4n.1200G>C
c.3129G>C (p.Trp1043Cys)
n.3690G>C
c.*1426G>C (n.*1426G>C)
n.3412G>C
n.3706G>C
c.1078G>C
n.3968G>C
c.3225G>C (p.Trp1075Cys)
c.1621G>C
c.-553+1287C>G (n.-553+1287C>G)
c.3381G>C (p.Trp1127Cys)
c.3285G>C (p.Trp1095Cys)
c.990G>C (p.Trp330Cys)
c.3408G>C (p.Trp1136Cys)
c.3312G>C (p.Trp1104Cys)
c.3252G>C (p.Trp1084Cys)
c.3156G>C (p.Trp1052Cys)
6g.43044795C>TCA3813578CUL7,KLC4n.1200G>A
c.3129G>A (p.Trp1043Ter)
n.3690G>A
c.*1426G>A (n.*1426G>A)
n.3412G>A
n.3706G>A
c.1078G>A
n.3968G>A
c.3225G>A (p.Trp1075Ter)
c.1621G>A
c.-553+1287C>T (n.-553+1287C>T)
c.3381G>A (p.Trp1127Ter)
c.3285G>A (p.Trp1095Ter)
c.990G>A (p.Trp330Ter)
c.3408G>A (p.Trp1136Ter)
c.3312G>A (p.Trp1104Ter)
c.3252G>A (p.Trp1084Ter)
c.3156G>A (p.Trp1052Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044796C>ACA364207219CUL7,KLC4n.1199G>T
c.3128G>T (p.Trp1043Leu)
n.3689G>T
c.*1425G>T (n.*1425G>T)
n.3411G>T
n.3705G>T
c.1077G>T
n.3967G>T
c.3224G>T (p.Trp1075Leu)
c.1620G>T
c.-553+1288C>A (n.-553+1288C>A)
c.3380G>T (p.Trp1127Leu)
c.3284G>T (p.Trp1095Leu)
c.989G>T (p.Trp330Leu)
c.3407G>T (p.Trp1136Leu)
c.3311G>T (p.Trp1104Leu)
c.3251G>T (p.Trp1084Leu)
c.3155G>T (p.Trp1052Leu)
6g.43044796C>GCA364207221CUL7,KLC4n.1199G>C
c.3128G>C (p.Trp1043Ser)
n.3689G>C
c.*1425G>C (n.*1425G>C)
n.3411G>C
n.3705G>C
c.1077G>C
n.3967G>C
c.3224G>C (p.Trp1075Ser)
c.1620G>C
c.-553+1288C>G (n.-553+1288C>G)
c.3380G>C (p.Trp1127Ser)
c.3284G>C (p.Trp1095Ser)
c.989G>C (p.Trp330Ser)
c.3407G>C (p.Trp1136Ser)
c.3311G>C (p.Trp1104Ser)
c.3251G>C (p.Trp1084Ser)
c.3155G>C (p.Trp1052Ser)
6g.43044796C>TCA364207216CUL7,KLC4n.1199G>A
c.3128G>A (p.Trp1043Ter)
n.3689G>A
c.*1425G>A (n.*1425G>A)
n.3411G>A
n.3705G>A
c.1077G>A
n.3967G>A
c.3224G>A (p.Trp1075Ter)
c.1620G>A
c.-553+1288C>T (n.-553+1288C>T)
c.3380G>A (p.Trp1127Ter)
c.3284G>A (p.Trp1095Ter)
c.989G>A (p.Trp330Ter)
c.3407G>A (p.Trp1136Ter)
c.3311G>A (p.Trp1104Ter)
c.3251G>A (p.Trp1084Ter)
c.3155G>A (p.Trp1052Ter)
6g.43044797A>CCA364207229CUL7,KLC4n.1198T>G
c.3127T>G (p.Trp1043Gly)
n.3688T>G
c.*1424T>G (n.*1424T>G)
n.3410T>G
n.3704T>G
c.1076T>G
n.3966T>G
c.3223T>G (p.Trp1075Gly)
c.1619T>G
c.-553+1289A>C (n.-553+1289A>C)
c.3379T>G (p.Trp1127Gly)
c.3283T>G (p.Trp1095Gly)
c.988T>G (p.Trp330Gly)
c.3406T>G (p.Trp1136Gly)
c.3310T>G (p.Trp1104Gly)
c.3250T>G (p.Trp1084Gly)
c.3154T>G (p.Trp1052Gly)
6g.43044797A>GCA364207227CUL7,KLC4n.1198T>C
c.3127T>C (p.Trp1043Arg)
n.3688T>C
c.*1424T>C (n.*1424T>C)
n.3410T>C
n.3704T>C
c.1076T>C
n.3966T>C
c.3223T>C (p.Trp1075Arg)
c.1619T>C
c.-553+1289A>G (n.-553+1289A>G)
c.3379T>C (p.Trp1127Arg)
c.3283T>C (p.Trp1095Arg)
c.988T>C (p.Trp330Arg)
c.3406T>C (p.Trp1136Arg)
c.3310T>C (p.Trp1104Arg)
c.3250T>C (p.Trp1084Arg)
c.3154T>C (p.Trp1052Arg)
6g.43044797A>TCA364207231CUL7,KLC4n.1198T>A
c.3127T>A (p.Trp1043Arg)
n.3688T>A
c.*1424T>A (n.*1424T>A)
n.3410T>A
n.3704T>A
c.1076T>A
n.3966T>A
c.3223T>A (p.Trp1075Arg)
c.1619T>A
c.-553+1289A>T (n.-553+1289A>T)
c.3379T>A (p.Trp1127Arg)
c.3283T>A (p.Trp1095Arg)
c.988T>A (p.Trp330Arg)
c.3406T>A (p.Trp1136Arg)
c.3310T>A (p.Trp1104Arg)
c.3250T>A (p.Trp1084Arg)
c.3154T>A (p.Trp1052Arg)
6g.43044798G>ACA450260185CUL7,KLC4n.1197C>T
c.3126C>T (p.Cys1042=)
n.3687C>T
c.*1423C>T (n.*1423C>T)
n.3409C>T
n.3703C>T
c.1075C>T
n.3965C>T
c.3222C>T (p.Cys1074=)
c.1618C>T
c.-553+1290G>A (n.-553+1290G>A)
c.3378C>T (p.Cys1126=)
c.3282C>T (p.Cys1094=)
c.987C>T (p.Cys329=)
c.3405C>T (p.Cys1135=)
c.3309C>T (p.Cys1103=)
c.3249C>T (p.Cys1083=)
c.3153C>T (p.Cys1051=)
6g.43044798G>CCA364207237CUL7,KLC4n.1197C>G
c.3126C>G (p.Cys1042Trp)
n.3687C>G
c.*1423C>G (n.*1423C>G)
n.3409C>G
n.3703C>G
c.1075C>G
n.3965C>G
c.3222C>G (p.Cys1074Trp)
c.1618C>G
c.-553+1290G>C (n.-553+1290G>C)
c.3378C>G (p.Cys1126Trp)
c.3282C>G (p.Cys1094Trp)
c.987C>G (p.Cys329Trp)
c.3405C>G (p.Cys1135Trp)
c.3309C>G (p.Cys1103Trp)
c.3249C>G (p.Cys1083Trp)
c.3153C>G (p.Cys1051Trp)
6g.43044798G>TCA364207239CUL7,KLC4n.1197C>A
c.3126C>A (p.Cys1042Ter)
n.3687C>A
c.*1423C>A (n.*1423C>A)
n.3409C>A
n.3703C>A
c.1075C>A
n.3965C>A
c.3222C>A (p.Cys1074Ter)
c.1618C>A
c.-553+1290G>T (n.-553+1290G>T)
c.3378C>A (p.Cys1126Ter)
c.3282C>A (p.Cys1094Ter)
c.987C>A (p.Cys329Ter)
c.3405C>A (p.Cys1135Ter)
c.3309C>A (p.Cys1103Ter)
c.3249C>A (p.Cys1083Ter)
c.3153C>A (p.Cys1051Ter)
6g.43044799C>ACA364207244CUL7,KLC4n.1196G>T
c.3125G>T (p.Cys1042Phe)
n.3686G>T
c.*1422G>T (n.*1422G>T)
n.3408G>T
n.3702G>T
c.1074G>T
n.3964G>T
c.3221G>T (p.Cys1074Phe)
c.1617G>T
c.-553+1291C>A (n.-553+1291C>A)
c.3377G>T (p.Cys1126Phe)
c.3281G>T (p.Cys1094Phe)
c.986G>T (p.Cys329Phe)
c.3404G>T (p.Cys1135Phe)
c.3308G>T (p.Cys1103Phe)
c.3248G>T (p.Cys1083Phe)
c.3152G>T (p.Cys1051Phe)
6g.43044799C>GCA364207247CUL7,KLC4n.1196G>C
c.3125G>C (p.Cys1042Ser)
n.3686G>C
c.*1422G>C (n.*1422G>C)
n.3408G>C
n.3702G>C
c.1074G>C
n.3964G>C
c.3221G>C (p.Cys1074Ser)
c.1617G>C
c.-553+1291C>G (n.-553+1291C>G)
c.3377G>C (p.Cys1126Ser)
c.3281G>C (p.Cys1094Ser)
c.986G>C (p.Cys329Ser)
c.3404G>C (p.Cys1135Ser)
c.3308G>C (p.Cys1103Ser)
c.3248G>C (p.Cys1083Ser)
c.3152G>C (p.Cys1051Ser)
6g.43044799C>TCA364207250CUL7,KLC4n.1196G>A
c.3125G>A (p.Cys1042Tyr)
n.3686G>A
c.*1422G>A (n.*1422G>A)
n.3408G>A
n.3702G>A
c.1074G>A
n.3964G>A
c.3221G>A (p.Cys1074Tyr)
c.1617G>A
c.-553+1291C>T (n.-553+1291C>T)
c.3377G>A (p.Cys1126Tyr)
c.3281G>A (p.Cys1094Tyr)
c.986G>A (p.Cys329Tyr)
c.3404G>A (p.Cys1135Tyr)
c.3308G>A (p.Cys1103Tyr)
c.3248G>A (p.Cys1083Tyr)
c.3152G>A (p.Cys1051Tyr)
 gnomAD v4
6g.43044800A>CCA364207253CUL7,KLC4n.1195T>G
c.3124T>G (p.Cys1042Gly)
n.3685T>G
c.*1421T>G (n.*1421T>G)
n.3407T>G
n.3701T>G
c.1073T>G
n.3963T>G
c.3220T>G (p.Cys1074Gly)
c.1616T>G
c.-553+1292A>C (n.-553+1292A>C)
c.3376T>G (p.Cys1126Gly)
c.3280T>G (p.Cys1094Gly)
c.985T>G (p.Cys329Gly)
c.3403T>G (p.Cys1135Gly)
c.3307T>G (p.Cys1103Gly)
c.3247T>G (p.Cys1083Gly)
c.3151T>G (p.Cys1051Gly)
6g.43044800A>GCA364207255CUL7,KLC4n.1195T>C
c.3124T>C (p.Cys1042Arg)
n.3685T>C
c.*1421T>C (n.*1421T>C)
n.3407T>C
n.3701T>C
c.1073T>C
n.3963T>C
c.3220T>C (p.Cys1074Arg)
c.1616T>C
c.-553+1292A>G (n.-553+1292A>G)
c.3376T>C (p.Cys1126Arg)
c.3280T>C (p.Cys1094Arg)
c.985T>C (p.Cys329Arg)
c.3403T>C (p.Cys1135Arg)
c.3307T>C (p.Cys1103Arg)
c.3247T>C (p.Cys1083Arg)
c.3151T>C (p.Cys1051Arg)
6g.43044800A>TCA364207260CUL7,KLC4n.1195T>A
c.3124T>A (p.Cys1042Ser)
n.3685T>A
c.*1421T>A (n.*1421T>A)
n.3407T>A
n.3701T>A
c.1073T>A
n.3963T>A
c.3220T>A (p.Cys1074Ser)
c.1616T>A
c.-553+1292A>T (n.-553+1292A>T)
c.3376T>A (p.Cys1126Ser)
c.3280T>A (p.Cys1094Ser)
c.985T>A (p.Cys329Ser)
c.3403T>A (p.Cys1135Ser)
c.3307T>A (p.Cys1103Ser)
c.3247T>A (p.Cys1083Ser)
c.3151T>A (p.Cys1051Ser)
 gnomAD v4
6g.43044801G>ACA450260186CUL7,KLC4n.1194C>T
c.3123C>T (p.Thr1041=)
n.3684C>T
c.*1420C>T (n.*1420C>T)
n.3406C>T
n.3700C>T
c.1072C>T
n.3962C>T
c.3219C>T (p.Thr1073=)
c.1615C>T
c.-553+1293G>A (n.-553+1293G>A)
c.3375C>T (p.Thr1125=)
c.3279C>T (p.Thr1093=)
c.984C>T (p.Thr328=)
c.3402C>T (p.Thr1134=)
c.3306C>T (p.Thr1102=)
c.3246C>T (p.Thr1082=)
c.3150C>T (p.Thr1050=)
6g.43044801G>CCA450260187CUL7,KLC4n.1194C>G
c.3123C>G (p.Thr1041=)
n.3684C>G
c.*1420C>G (n.*1420C>G)
n.3406C>G
n.3700C>G
c.1072C>G
n.3962C>G
c.3219C>G (p.Thr1073=)
c.1615C>G
c.-553+1293G>C (n.-553+1293G>C)
c.3375C>G (p.Thr1125=)
c.3279C>G (p.Thr1093=)
c.984C>G (p.Thr328=)
c.3402C>G (p.Thr1134=)
c.3306C>G (p.Thr1102=)
c.3246C>G (p.Thr1082=)
c.3150C>G (p.Thr1050=)
6g.43044801G>TCA450260188CUL7,KLC4n.1194C>A
c.3123C>A (p.Thr1041=)
n.3684C>A
c.*1420C>A (n.*1420C>A)
n.3406C>A
n.3700C>A
c.1072C>A
n.3962C>A
c.3219C>A (p.Thr1073=)
c.1615C>A
c.-553+1293G>T (n.-553+1293G>T)
c.3375C>A (p.Thr1125=)
c.3279C>A (p.Thr1093=)
c.984C>A (p.Thr328=)
c.3402C>A (p.Thr1134=)
c.3306C>A (p.Thr1102=)
c.3246C>A (p.Thr1082=)
c.3150C>A (p.Thr1050=)
 gnomAD v4 COSMIC COSMIC
6g.43044802G>ACA364207264CUL7,KLC4n.1193C>T
c.3122C>T (p.Thr1041Ile)
n.3683C>T
c.*1419C>T (n.*1419C>T)
n.3405C>T
n.3699C>T
c.1071C>T
n.3961C>T
c.3218C>T (p.Thr1073Ile)
c.1614C>T
c.-553+1294G>A (n.-553+1294G>A)
c.3374C>T (p.Thr1125Ile)
c.3278C>T (p.Thr1093Ile)
c.983C>T (p.Thr328Ile)
c.3401C>T (p.Thr1134Ile)
c.3305C>T (p.Thr1102Ile)
c.3245C>T (p.Thr1082Ile)
c.3149C>T (p.Thr1050Ile)
6g.43044802G>CCA364207266CUL7,KLC4n.1193C>G
c.3122C>G (p.Thr1041Ser)
n.3683C>G
c.*1419C>G (n.*1419C>G)
n.3405C>G
n.3699C>G
c.1071C>G
n.3961C>G
c.3218C>G (p.Thr1073Ser)
c.1614C>G
c.-553+1294G>C (n.-553+1294G>C)
c.3374C>G (p.Thr1125Ser)
c.3278C>G (p.Thr1093Ser)
c.983C>G (p.Thr328Ser)
c.3401C>G (p.Thr1134Ser)
c.3305C>G (p.Thr1102Ser)
c.3245C>G (p.Thr1082Ser)
c.3149C>G (p.Thr1050Ser)
6g.43044802G>TCA364207270CUL7,KLC4n.1193C>A
c.3122C>A (p.Thr1041Asn)
n.3683C>A
c.*1419C>A (n.*1419C>A)
n.3405C>A
n.3699C>A
c.1071C>A
n.3961C>A
c.3218C>A (p.Thr1073Asn)
c.1614C>A
c.-553+1294G>T (n.-553+1294G>T)
c.3374C>A (p.Thr1125Asn)
c.3278C>A (p.Thr1093Asn)
c.983C>A (p.Thr328Asn)
c.3401C>A (p.Thr1134Asn)
c.3305C>A (p.Thr1102Asn)
c.3245C>A (p.Thr1082Asn)
c.3149C>A (p.Thr1050Asn)
6g.43044803T>ACA364207281CUL7,KLC4n.1192A>T
c.3121A>T (p.Thr1041Ser)
n.3682A>T
c.*1418A>T (n.*1418A>T)
n.3404A>T
n.3698A>T
c.1070A>T
n.3960A>T
c.3217A>T (p.Thr1073Ser)
c.1613A>T
c.-553+1295T>A (n.-553+1295T>A)
c.3373A>T (p.Thr1125Ser)
c.3277A>T (p.Thr1093Ser)
c.982A>T (p.Thr328Ser)
c.3400A>T (p.Thr1134Ser)
c.3304A>T (p.Thr1102Ser)
c.3244A>T (p.Thr1082Ser)
c.3148A>T (p.Thr1050Ser)
6g.43044803T>CCA364207278CUL7,KLC4n.1192A>G
c.3121A>G (p.Thr1041Ala)
n.3682A>G
c.*1418A>G (n.*1418A>G)
n.3404A>G
n.3698A>G
c.1070A>G
n.3960A>G
c.3217A>G (p.Thr1073Ala)
c.1613A>G
c.-553+1295T>C (n.-553+1295T>C)
c.3373A>G (p.Thr1125Ala)
c.3277A>G (p.Thr1093Ala)
c.982A>G (p.Thr328Ala)
c.3400A>G (p.Thr1134Ala)
c.3304A>G (p.Thr1102Ala)
c.3244A>G (p.Thr1082Ala)
c.3148A>G (p.Thr1050Ala)
6g.43044803T>GCA364207274CUL7,KLC4n.1192A>C
c.3121A>C (p.Thr1041Pro)
n.3682A>C
c.*1418A>C (n.*1418A>C)
n.3404A>C
n.3698A>C
c.1070A>C
n.3960A>C
c.3217A>C (p.Thr1073Pro)
c.1613A>C
c.-553+1295T>G (n.-553+1295T>G)
c.3373A>C (p.Thr1125Pro)
c.3277A>C (p.Thr1093Pro)
c.982A>C (p.Thr328Pro)
c.3400A>C (p.Thr1134Pro)
c.3304A>C (p.Thr1102Pro)
c.3244A>C (p.Thr1082Pro)
c.3148A>C (p.Thr1050Pro)
6g.43044804C>ACA364207285CUL7,KLC4n.1191G>T
c.3120G>T (p.Lys1040Asn)
n.3681G>T
c.*1417G>T (n.*1417G>T)
n.3403G>T
n.3697G>T
c.1069G>T
n.3959G>T
c.3216G>T (p.Lys1072Asn)
c.1612G>T
c.-553+1296C>A (n.-553+1296C>A)
c.3372G>T (p.Lys1124Asn)
c.3276G>T (p.Lys1092Asn)
c.981G>T (p.Lys327Asn)
c.3399G>T (p.Lys1133Asn)
c.3303G>T (p.Lys1101Asn)
c.3243G>T (p.Lys1081Asn)
c.3147G>T (p.Lys1049Asn)
6g.43044804C>GCA364207287CUL7,KLC4n.1191G>C
c.3120G>C (p.Lys1040Asn)
n.3681G>C
c.*1417G>C (n.*1417G>C)
n.3403G>C
n.3697G>C
c.1069G>C
n.3959G>C
c.3216G>C (p.Lys1072Asn)
c.1612G>C
c.-553+1296C>G (n.-553+1296C>G)
c.3372G>C (p.Lys1124Asn)
c.3276G>C (p.Lys1092Asn)
c.981G>C (p.Lys327Asn)
c.3399G>C (p.Lys1133Asn)
c.3303G>C (p.Lys1101Asn)
c.3243G>C (p.Lys1081Asn)
c.3147G>C (p.Lys1049Asn)
 COSMIC COSMIC
6g.43044804C>TCA450260189CUL7,KLC4n.1191G>A
c.3120G>A (p.Lys1040=)
n.3681G>A
c.*1417G>A (n.*1417G>A)
n.3403G>A
n.3697G>A
c.1069G>A
n.3959G>A
c.3216G>A (p.Lys1072=)
c.1612G>A
c.-553+1296C>T (n.-553+1296C>T)
c.3372G>A (p.Lys1124=)
c.3276G>A (p.Lys1092=)
c.981G>A (p.Lys327=)
c.3399G>A (p.Lys1133=)
c.3303G>A (p.Lys1101=)
c.3243G>A (p.Lys1081=)
c.3147G>A (p.Lys1049=)
6g.43044805T>ACA364207291CUL7,KLC4n.1190A>T
c.3119A>T (p.Lys1040Met)
n.3680A>T
c.*1416A>T (n.*1416A>T)
n.3402A>T
n.3696A>T
c.1068A>T
n.3958A>T
c.3215A>T (p.Lys1072Met)
c.1611A>T
c.-553+1297T>A (n.-553+1297T>A)
c.3371A>T (p.Lys1124Met)
c.3275A>T (p.Lys1092Met)
c.980A>T (p.Lys327Met)
c.3398A>T (p.Lys1133Met)
c.3302A>T (p.Lys1101Met)
c.3242A>T (p.Lys1081Met)
c.3146A>T (p.Lys1049Met)
6g.43044805T>CCA364207293CUL7,KLC4n.1190A>G
c.3119A>G (p.Lys1040Arg)
n.3680A>G
c.*1416A>G (n.*1416A>G)
n.3402A>G
n.3696A>G
c.1068A>G
n.3958A>G
c.3215A>G (p.Lys1072Arg)
c.1611A>G
c.-553+1297T>C (n.-553+1297T>C)
c.3371A>G (p.Lys1124Arg)
c.3275A>G (p.Lys1092Arg)
c.980A>G (p.Lys327Arg)
c.3398A>G (p.Lys1133Arg)
c.3302A>G (p.Lys1101Arg)
c.3242A>G (p.Lys1081Arg)
c.3146A>G (p.Lys1049Arg)
6g.43044805T>GCA364207297CUL7,KLC4n.1190A>C
c.3119A>C (p.Lys1040Thr)
n.3680A>C
c.*1416A>C (n.*1416A>C)
n.3402A>C
n.3696A>C
c.1068A>C
n.3958A>C
c.3215A>C (p.Lys1072Thr)
c.1611A>C
c.-553+1297T>G (n.-553+1297T>G)
c.3371A>C (p.Lys1124Thr)
c.3275A>C (p.Lys1092Thr)
c.980A>C (p.Lys327Thr)
c.3398A>C (p.Lys1133Thr)
c.3302A>C (p.Lys1101Thr)
c.3242A>C (p.Lys1081Thr)
c.3146A>C (p.Lys1049Thr)
6g.43044806T>ACA364207302CUL7,KLC4n.1189A>T
c.3118A>T (p.Lys1040Ter)
n.3679A>T
c.*1415A>T (n.*1415A>T)
n.3401A>T
n.3695A>T
c.1067A>T
n.3957A>T
c.3214A>T (p.Lys1072Ter)
c.1610A>T
c.-553+1298T>A (n.-553+1298T>A)
c.3370A>T (p.Lys1124Ter)
c.3274A>T (p.Lys1092Ter)
c.979A>T (p.Lys327Ter)
c.3397A>T (p.Lys1133Ter)
c.3301A>T (p.Lys1101Ter)
c.3241A>T (p.Lys1081Ter)
c.3145A>T (p.Lys1049Ter)
6g.43044806T>CCA364207306CUL7,KLC4n.1189A>G
c.3118A>G (p.Lys1040Glu)
n.3679A>G
c.*1415A>G (n.*1415A>G)
n.3401A>G
n.3695A>G
c.1067A>G
n.3957A>G
c.3214A>G (p.Lys1072Glu)
c.1610A>G
c.-553+1298T>C (n.-553+1298T>C)
c.3370A>G (p.Lys1124Glu)
c.3274A>G (p.Lys1092Glu)
c.979A>G (p.Lys327Glu)
c.3397A>G (p.Lys1133Glu)
c.3301A>G (p.Lys1101Glu)
c.3241A>G (p.Lys1081Glu)
c.3145A>G (p.Lys1049Glu)
6g.43044806T>GCA364207309CUL7,KLC4n.1189A>C
c.3118A>C (p.Lys1040Gln)
n.3679A>C
c.*1415A>C (n.*1415A>C)
n.3401A>C
n.3695A>C
c.1067A>C
n.3957A>C
c.3214A>C (p.Lys1072Gln)
c.1610A>C
c.-553+1298T>G (n.-553+1298T>G)
c.3370A>C (p.Lys1124Gln)
c.3274A>C (p.Lys1092Gln)
c.979A>C (p.Lys327Gln)
c.3397A>C (p.Lys1133Gln)
c.3301A>C (p.Lys1101Gln)
c.3241A>C (p.Lys1081Gln)
c.3145A>C (p.Lys1049Gln)
6g.43044807G>ACA3813579CUL7,KLC4n.1188C>T
c.3117C>T (p.Gly1039=)
n.3678C>T
c.*1414C>T (n.*1414C>T)
n.3400C>T
n.3694C>T
c.1066C>T
n.3956C>T
c.3213C>T (p.Gly1071=)
c.1609C>T
c.-553+1299G>A (n.-553+1299G>A)
c.3369C>T (p.Gly1123=)
c.3273C>T (p.Gly1091=)
c.978C>T (p.Gly326=)
c.3396C>T (p.Gly1132=)
c.3300C>T (p.Gly1100=)
c.3240C>T (p.Gly1080=)
c.3144C>T (p.Gly1048=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044807G>CCA450260190CUL7,KLC4n.1188C>G
c.3117C>G (p.Gly1039=)
n.3678C>G
c.*1414C>G (n.*1414C>G)
n.3400C>G
n.3694C>G
c.1066C>G
n.3956C>G
c.3213C>G (p.Gly1071=)
c.1609C>G
c.-553+1299G>C (n.-553+1299G>C)
c.3369C>G (p.Gly1123=)
c.3273C>G (p.Gly1091=)
c.978C>G (p.Gly326=)
c.3396C>G (p.Gly1132=)
c.3300C>G (p.Gly1100=)
c.3240C>G (p.Gly1080=)
c.3144C>G (p.Gly1048=)
 gnomAD v4
6g.43044807G=CA1624355703CUL7,KLC4n.1188C=
c.3117C= (p.Gly1039=)
n.3678C=
c.*1414C= (n.*1414C=)
n.3400C=
n.3694C=
c.1066C=
n.3956C=
c.3213C= (p.Gly1071=)
c.1609C=
c.-553+1299G= (n.-553+1299G=)
c.3369C= (p.Gly1123=)
c.3273C= (p.Gly1091=)
c.978C= (p.Gly326=)
c.3396C= (p.Gly1132=)
c.3300C= (p.Gly1100=)
c.3240C= (p.Gly1080=)
c.3144C= (p.Gly1048=)
6g.43044807G>TCA450260191CUL7,KLC4n.1188C>A
c.3117C>A (p.Gly1039=)
n.3678C>A
c.*1414C>A (n.*1414C>A)
n.3400C>A
n.3694C>A
c.1066C>A
n.3956C>A
c.3213C>A (p.Gly1071=)
c.1609C>A
c.-553+1299G>T (n.-553+1299G>T)
c.3369C>A (p.Gly1123=)
c.3273C>A (p.Gly1091=)
c.978C>A (p.Gly326=)
c.3396C>A (p.Gly1132=)
c.3300C>A (p.Gly1100=)
c.3240C>A (p.Gly1080=)
c.3144C>A (p.Gly1048=)
 dbSNP gnomAD v3 gnomAD v4
6g.43044808C>ACA364207316CUL7,KLC4n.1187G>T
c.3116G>T (p.Gly1039Val)
n.3677G>T
c.*1413G>T (n.*1413G>T)
n.3399G>T
n.3693G>T
c.1065G>T
n.3955G>T
c.3212G>T (p.Gly1071Val)
c.1608G>T
c.-553+1300C>A (n.-553+1300C>A)
c.3368G>T (p.Gly1123Val)
c.3272G>T (p.Gly1091Val)
c.977G>T (p.Gly326Val)
c.3395G>T (p.Gly1132Val)
c.3299G>T (p.Gly1100Val)
c.3239G>T (p.Gly1080Val)
c.3143G>T (p.Gly1048Val)
6g.43044808C=CA1624355704CUL7,KLC4n.1187G=
c.3116G= (p.Gly1039=)
n.3677G=
c.*1413G= (n.*1413G=)
n.3399G=
n.3693G=
c.1065G=
n.3955G=
c.3212G= (p.Gly1071=)
c.1608G=
c.-553+1300C= (n.-553+1300C=)
c.3368G= (p.Gly1123=)
c.3272G= (p.Gly1091=)
c.977G= (p.Gly326=)
c.3395G= (p.Gly1132=)
c.3299G= (p.Gly1100=)
c.3239G= (p.Gly1080=)
c.3143G= (p.Gly1048=)
6g.43044808C>GCA364207320CUL7,KLC4n.1187G>C
c.3116G>C (p.Gly1039Ala)
n.3677G>C
c.*1413G>C (n.*1413G>C)
n.3399G>C
n.3693G>C
c.1065G>C
n.3955G>C
c.3212G>C (p.Gly1071Ala)
c.1608G>C
c.-553+1300C>G (n.-553+1300C>G)
c.3368G>C (p.Gly1123Ala)
c.3272G>C (p.Gly1091Ala)
c.977G>C (p.Gly326Ala)
c.3395G>C (p.Gly1132Ala)
c.3299G>C (p.Gly1100Ala)
c.3239G>C (p.Gly1080Ala)
c.3143G>C (p.Gly1048Ala)
6g.43044808C>TCA3813580CUL7,KLC4n.1187G>A
c.3116G>A (p.Gly1039Asp)
n.3677G>A
c.*1413G>A (n.*1413G>A)
n.3399G>A
n.3693G>A
c.1065G>A
n.3955G>A
c.3212G>A (p.Gly1071Asp)
c.1608G>A
c.-553+1300C>T (n.-553+1300C>T)
c.3368G>A (p.Gly1123Asp)
c.3272G>A (p.Gly1091Asp)
c.977G>A (p.Gly326Asp)
c.3395G>A (p.Gly1132Asp)
c.3299G>A (p.Gly1100Asp)
c.3239G>A (p.Gly1080Asp)
c.3143G>A (p.Gly1048Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044809C>ACA364207327CUL7,KLC4n.1186G>T
c.3115G>T (p.Gly1039Cys)
n.3676G>T
c.*1412G>T (n.*1412G>T)
n.3398G>T
n.3692G>T
c.1064G>T
n.3954G>T
c.3211G>T (p.Gly1071Cys)
c.1607G>T
c.-553+1301C>A (n.-553+1301C>A)
c.3367G>T (p.Gly1123Cys)
c.3271G>T (p.Gly1091Cys)
c.976G>T (p.Gly326Cys)
c.3394G>T (p.Gly1132Cys)
c.3298G>T (p.Gly1100Cys)
c.3238G>T (p.Gly1080Cys)
c.3142G>T (p.Gly1048Cys)
6g.43044809C>GCA364207329CUL7,KLC4n.1186G>C
c.3115G>C (p.Gly1039Arg)
n.3676G>C
c.*1412G>C (n.*1412G>C)
n.3398G>C
n.3692G>C
c.1064G>C
n.3954G>C
c.3211G>C (p.Gly1071Arg)
c.1607G>C
c.-553+1301C>G (n.-553+1301C>G)
c.3367G>C (p.Gly1123Arg)
c.3271G>C (p.Gly1091Arg)
c.976G>C (p.Gly326Arg)
c.3394G>C (p.Gly1132Arg)
c.3298G>C (p.Gly1100Arg)
c.3238G>C (p.Gly1080Arg)
c.3142G>C (p.Gly1048Arg)
6g.43044809C>TCA364207325CUL7,KLC4n.1186G>A
c.3115G>A (p.Gly1039Ser)
n.3676G>A
c.*1412G>A (n.*1412G>A)
n.3398G>A
n.3692G>A
c.1064G>A
n.3954G>A
c.3211G>A (p.Gly1071Ser)
c.1607G>A
c.-553+1301C>T (n.-553+1301C>T)
c.3367G>A (p.Gly1123Ser)
c.3271G>A (p.Gly1091Ser)
c.976G>A (p.Gly326Ser)
c.3394G>A (p.Gly1132Ser)
c.3298G>A (p.Gly1100Ser)
c.3238G>A (p.Gly1080Ser)
c.3142G>A (p.Gly1048Ser)
6g.43044810C>ACA450260192CUL7,KLC4n.1185G>T
c.3114G>T (p.Leu1038=)
n.3675G>T
c.*1411G>T (n.*1411G>T)
n.3397G>T
n.3691G>T
c.1063G>T
n.3953G>T
c.3210G>T (p.Leu1070=)
c.1606G>T
c.-553+1302C>A (n.-553+1302C>A)
c.3366G>T (p.Leu1122=)
c.3270G>T (p.Leu1090=)
c.975G>T (p.Leu325=)
c.3393G>T (p.Leu1131=)
c.3297G>T (p.Leu1099=)
c.3237G>T (p.Leu1079=)
c.3141G>T (p.Leu1047=)
6g.43044810C=CA1624355705CUL7,KLC4n.1185G=
c.3114G= (p.Leu1038=)
n.3675G=
c.*1411G= (n.*1411G=)
n.3397G=
n.3691G=
c.1063G=
n.3953G=
c.3210G= (p.Leu1070=)
c.1606G=
c.-553+1302C= (n.-553+1302C=)
c.3366G= (p.Leu1122=)
c.3270G= (p.Leu1090=)
c.975G= (p.Leu325=)
c.3393G= (p.Leu1131=)
c.3297G= (p.Leu1099=)
c.3237G= (p.Leu1079=)
c.3141G= (p.Leu1047=)
6g.43044810C>GCA3813581CUL7,KLC4n.1185G>C
c.3114G>C (p.Leu1038=)
n.3675G>C
c.*1411G>C (n.*1411G>C)
n.3397G>C
n.3691G>C
c.1063G>C
n.3953G>C
c.3210G>C (p.Leu1070=)
c.1606G>C
c.-553+1302C>G (n.-553+1302C>G)
c.3366G>C (p.Leu1122=)
c.3270G>C (p.Leu1090=)
c.975G>C (p.Leu325=)
c.3393G>C (p.Leu1131=)
c.3297G>C (p.Leu1099=)
c.3237G>C (p.Leu1079=)
c.3141G>C (p.Leu1047=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044810C>TCA450260193CUL7,KLC4n.1185G>A
c.3114G>A (p.Leu1038=)
n.3675G>A
c.*1411G>A (n.*1411G>A)
n.3397G>A
n.3691G>A
c.1063G>A
n.3953G>A
c.3210G>A (p.Leu1070=)
c.1606G>A
c.-553+1302C>T (n.-553+1302C>T)
c.3366G>A (p.Leu1122=)
c.3270G>A (p.Leu1090=)
c.975G>A (p.Leu325=)
c.3393G>A (p.Leu1131=)
c.3297G>A (p.Leu1099=)
c.3237G>A (p.Leu1079=)
c.3141G>A (p.Leu1047=)
6g.43044811A>CCA364207332CUL7,KLC4n.1184T>G
c.3113T>G (p.Leu1038Arg)
n.3674T>G
c.*1410T>G (n.*1410T>G)
n.3396T>G
n.3690T>G
c.1062T>G
n.3952T>G
c.3209T>G (p.Leu1070Arg)
c.1605T>G
c.-553+1303A>C (n.-553+1303A>C)
c.3365T>G (p.Leu1122Arg)
c.3269T>G (p.Leu1090Arg)
c.974T>G (p.Leu325Arg)
c.3392T>G (p.Leu1131Arg)
c.3296T>G (p.Leu1099Arg)
c.3236T>G (p.Leu1079Arg)
c.3140T>G (p.Leu1047Arg)
6g.43044811A>GCA364207337CUL7,KLC4n.1184T>C
c.3113T>C (p.Leu1038Pro)
n.3674T>C
c.*1410T>C (n.*1410T>C)
n.3396T>C
n.3690T>C
c.1062T>C
n.3952T>C
c.3209T>C (p.Leu1070Pro)
c.1605T>C
c.-553+1303A>G (n.-553+1303A>G)
c.3365T>C (p.Leu1122Pro)
c.3269T>C (p.Leu1090Pro)
c.974T>C (p.Leu325Pro)
c.3392T>C (p.Leu1131Pro)
c.3296T>C (p.Leu1099Pro)
c.3236T>C (p.Leu1079Pro)
c.3140T>C (p.Leu1047Pro)
6g.43044811A>TCA364207341CUL7,KLC4n.1184T>A
c.3113T>A (p.Leu1038Gln)
n.3674T>A
c.*1410T>A (n.*1410T>A)
n.3396T>A
n.3690T>A
c.1062T>A
n.3952T>A
c.3209T>A (p.Leu1070Gln)
c.1605T>A
c.-553+1303A>T (n.-553+1303A>T)
c.3365T>A (p.Leu1122Gln)
c.3269T>A (p.Leu1090Gln)
c.974T>A (p.Leu325Gln)
c.3392T>A (p.Leu1131Gln)
c.3296T>A (p.Leu1099Gln)
c.3236T>A (p.Leu1079Gln)
c.3140T>A (p.Leu1047Gln)
6g.43044812delCA2578622004CUL7,KLC4n.1183del
c.3112del (p.Leu1038TrpfsTer?)
n.3673del
c.*1409del (n.*1409del)
n.3395del
n.3689del
c.1061del
n.3951del
c.3208del (p.Leu1070TrpfsTer?)
c.1604del
c.-553+1304del (n.-553+1304del)
c.3364del (p.Leu1122TrpfsTer?)
c.3268del (p.Leu1090TrpfsTer?)
c.973del (p.Leu325TrpfsTer?)
c.3391del (p.Leu1131TrpfsTer?)
c.3295del (p.Leu1099TrpfsTer?)
c.3235del (p.Leu1079TrpfsTer?)
c.3139del (p.Leu1047TrpfsTer?)
6g.43044812G>ACA450260207CUL7,KLC4n.1183C>T
c.3112C>T (p.Leu1038=)
n.3673C>T
c.*1409C>T (n.*1409C>T)
n.3395C>T
n.3689C>T
c.1061C>T
n.3951C>T
c.3208C>T (p.Leu1070=)
c.1604C>T
c.-553+1304G>A (n.-553+1304G>A)
c.3364C>T (p.Leu1122=)
c.3268C>T (p.Leu1090=)
c.973C>T (p.Leu325=)
c.3391C>T (p.Leu1131=)
c.3295C>T (p.Leu1099=)
c.3235C>T (p.Leu1079=)
c.3139C>T (p.Leu1047=)
 COSMIC COSMIC
6g.43044812G>CCA364207344CUL7,KLC4n.1183C>G
c.3112C>G (p.Leu1038Val)
n.3673C>G
c.*1409C>G (n.*1409C>G)
n.3395C>G
n.3689C>G
c.1061C>G
n.3951C>G
c.3208C>G (p.Leu1070Val)
c.1604C>G
c.-553+1304G>C (n.-553+1304G>C)
c.3364C>G (p.Leu1122Val)
c.3268C>G (p.Leu1090Val)
c.973C>G (p.Leu325Val)
c.3391C>G (p.Leu1131Val)
c.3295C>G (p.Leu1099Val)
c.3235C>G (p.Leu1079Val)
c.3139C>G (p.Leu1047Val)
6g.43044812G>TCA364207348CUL7,KLC4n.1183C>A
c.3112C>A (p.Leu1038Met)
n.3673C>A
c.*1409C>A (n.*1409C>A)
n.3395C>A
n.3689C>A
c.1061C>A
n.3951C>A
c.3208C>A (p.Leu1070Met)
c.1604C>A
c.-553+1304G>T (n.-553+1304G>T)
c.3364C>A (p.Leu1122Met)
c.3268C>A (p.Leu1090Met)
c.973C>A (p.Leu325Met)
c.3391C>A (p.Leu1131Met)
c.3295C>A (p.Leu1099Met)
c.3235C>A (p.Leu1079Met)
c.3139C>A (p.Leu1047Met)
6g.43044813A>CCA450260208CUL7,KLC4n.1182T>G
c.3111T>G (p.Ala1037=)
n.3672T>G
c.*1408T>G (n.*1408T>G)
n.3394T>G
n.3688T>G
c.1060T>G
n.3950T>G
c.3207T>G (p.Ala1069=)
c.1603T>G
c.-553+1305A>C (n.-553+1305A>C)
c.3363T>G (p.Ala1121=)
c.3267T>G (p.Ala1089=)
c.972T>G (p.Ala324=)
c.3390T>G (p.Ala1130=)
c.3294T>G (p.Ala1098=)
c.3234T>G (p.Ala1078=)
c.3138T>G (p.Ala1046=)
 gnomAD v4
6g.43044813A>GCA450260209CUL7,KLC4n.1182T>C
c.3111T>C (p.Ala1037=)
n.3672T>C
c.*1408T>C (n.*1408T>C)
n.3394T>C
n.3688T>C
c.1060T>C
n.3950T>C
c.3207T>C (p.Ala1069=)
c.1603T>C
c.-553+1305A>G (n.-553+1305A>G)
c.3363T>C (p.Ala1121=)
c.3267T>C (p.Ala1089=)
c.972T>C (p.Ala324=)
c.3390T>C (p.Ala1130=)
c.3294T>C (p.Ala1098=)
c.3234T>C (p.Ala1078=)
c.3138T>C (p.Ala1046=)
6g.43044813A>TCA450260210CUL7,KLC4n.1182T>A
c.3111T>A (p.Ala1037=)
n.3672T>A
c.*1408T>A (n.*1408T>A)
n.3394T>A
n.3688T>A
c.1060T>A
n.3950T>A
c.3207T>A (p.Ala1069=)
c.1603T>A
c.-553+1305A>T (n.-553+1305A>T)
c.3363T>A (p.Ala1121=)
c.3267T>A (p.Ala1089=)
c.972T>A (p.Ala324=)
c.3390T>A (p.Ala1130=)
c.3294T>A (p.Ala1098=)
c.3234T>A (p.Ala1078=)
c.3138T>A (p.Ala1046=)
6g.43044814G>ACA364207358CUL7,KLC4n.1181C>T
c.3110C>T (p.Ala1037Val)
n.3671C>T
c.*1407C>T (n.*1407C>T)
n.3393C>T
n.3687C>T
c.1059C>T
n.3949C>T
c.3206C>T (p.Ala1069Val)
c.1602C>T
c.-553+1306G>A (n.-553+1306G>A)
c.3362C>T (p.Ala1121Val)
c.3266C>T (p.Ala1089Val)
c.971C>T (p.Ala324Val)
c.3389C>T (p.Ala1130Val)
c.3293C>T (p.Ala1098Val)
c.3233C>T (p.Ala1078Val)
c.3137C>T (p.Ala1046Val)
6g.43044814G>CCA364207351CUL7,KLC4n.1181C>G
c.3110C>G (p.Ala1037Gly)
n.3671C>G
c.*1407C>G (n.*1407C>G)
n.3393C>G
n.3687C>G
c.1059C>G
n.3949C>G
c.3206C>G (p.Ala1069Gly)
c.1602C>G
c.-553+1306G>C (n.-553+1306G>C)
c.3362C>G (p.Ala1121Gly)
c.3266C>G (p.Ala1089Gly)
c.971C>G (p.Ala324Gly)
c.3389C>G (p.Ala1130Gly)
c.3293C>G (p.Ala1098Gly)
c.3233C>G (p.Ala1078Gly)
c.3137C>G (p.Ala1046Gly)
 dbSNP
6g.43044814G=CA1624355706CUL7,KLC4n.1181C=
c.3110C= (p.Ala1037=)
n.3671C=
c.*1407C= (n.*1407C=)
n.3393C=
n.3687C=
c.1059C=
n.3949C=
c.3206C= (p.Ala1069=)
c.1602C=
c.-553+1306G= (n.-553+1306G=)
c.3362C= (p.Ala1121=)
c.3266C= (p.Ala1089=)
c.971C= (p.Ala324=)
c.3389C= (p.Ala1130=)
c.3293C= (p.Ala1098=)
c.3233C= (p.Ala1078=)
c.3137C= (p.Ala1046=)
6g.43044814G>TCA364207354CUL7,KLC4n.1181C>A
c.3110C>A (p.Ala1037Asp)
n.3671C>A
c.*1407C>A (n.*1407C>A)
n.3393C>A
n.3687C>A
c.1059C>A
n.3949C>A
c.3206C>A (p.Ala1069Asp)
c.1602C>A
c.-553+1306G>T (n.-553+1306G>T)
c.3362C>A (p.Ala1121Asp)
c.3266C>A (p.Ala1089Asp)
c.971C>A (p.Ala324Asp)
c.3389C>A (p.Ala1130Asp)
c.3293C>A (p.Ala1098Asp)
c.3233C>A (p.Ala1078Asp)
c.3137C>A (p.Ala1046Asp)
6g.43044815C>ACA364207362CUL7,KLC4n.1180G>T
c.3109G>T (p.Ala1037Ser)
n.3670G>T
c.*1406G>T (n.*1406G>T)
n.3392G>T
n.3686G>T
c.1058G>T
n.3948G>T
c.3205G>T (p.Ala1069Ser)
c.1601G>T
c.-553+1307C>A (n.-553+1307C>A)
c.3361G>T (p.Ala1121Ser)
c.3265G>T (p.Ala1089Ser)
c.970G>T (p.Ala324Ser)
c.3388G>T (p.Ala1130Ser)
c.3292G>T (p.Ala1098Ser)
c.3232G>T (p.Ala1078Ser)
c.3136G>T (p.Ala1046Ser)
6g.43044815C=CA1624355707CUL7,KLC4n.1180G=
c.3109G= (p.Ala1037=)
n.3670G=
c.*1406G= (n.*1406G=)
n.3392G=
n.3686G=
c.1058G=
n.3948G=
c.3205G= (p.Ala1069=)
c.1601G=
c.-553+1307C= (n.-553+1307C=)
c.3361G= (p.Ala1121=)
c.3265G= (p.Ala1089=)
c.970G= (p.Ala324=)
c.3388G= (p.Ala1130=)
c.3292G= (p.Ala1098=)
c.3232G= (p.Ala1078=)
c.3136G= (p.Ala1046=)
6g.43044815C>GCA364207368CUL7,KLC4n.1180G>C
c.3109G>C (p.Ala1037Pro)
n.3670G>C
c.*1406G>C (n.*1406G>C)
n.3392G>C
n.3686G>C
c.1058G>C
n.3948G>C
c.3205G>C (p.Ala1069Pro)
c.1601G>C
c.-553+1307C>G (n.-553+1307C>G)
c.3361G>C (p.Ala1121Pro)
c.3265G>C (p.Ala1089Pro)
c.970G>C (p.Ala324Pro)
c.3388G>C (p.Ala1130Pro)
c.3292G>C (p.Ala1098Pro)
c.3232G>C (p.Ala1078Pro)
c.3136G>C (p.Ala1046Pro)
6g.43044815C>TCA364207373CUL7,KLC4n.1180G>A
c.3109G>A (p.Ala1037Thr)
n.3670G>A
c.*1406G>A (n.*1406G>A)
n.3392G>A
n.3686G>A
c.1058G>A
n.3948G>A
c.3205G>A (p.Ala1069Thr)
c.1601G>A
c.-553+1307C>T (n.-553+1307C>T)
c.3361G>A (p.Ala1121Thr)
c.3265G>A (p.Ala1089Thr)
c.970G>A (p.Ala324Thr)
c.3388G>A (p.Ala1130Thr)
c.3292G>A (p.Ala1098Thr)
c.3232G>A (p.Ala1078Thr)
c.3136G>A (p.Ala1046Thr)
 dbSNP gnomAD v4
6g.43044816T>ACA364207377CUL7,KLC4n.1179A>T
c.3108A>T (p.Gln1036His)
n.3669A>T
c.*1405A>T (n.*1405A>T)
n.3391A>T
n.3685A>T
c.1057A>T
n.3947A>T
c.3204A>T (p.Gln1068His)
c.1600A>T
c.-553+1308T>A (n.-553+1308T>A)
c.3360A>T (p.Gln1120His)
c.3264A>T (p.Gln1088His)
c.969A>T (p.Gln323His)
c.3387A>T (p.Gln1129His)
c.3291A>T (p.Gln1097His)
c.3231A>T (p.Gln1077His)
c.3135A>T (p.Gln1045His)
6g.43044816T>CCA450260212CUL7,KLC4n.1179A>G
c.3108A>G (p.Gln1036=)
n.3669A>G
c.*1405A>G (n.*1405A>G)
n.3391A>G
n.3685A>G
c.1057A>G
n.3947A>G
c.3204A>G (p.Gln1068=)
c.1600A>G
c.-553+1308T>C (n.-553+1308T>C)
c.3360A>G (p.Gln1120=)
c.3264A>G (p.Gln1088=)
c.969A>G (p.Gln323=)
c.3387A>G (p.Gln1129=)
c.3291A>G (p.Gln1097=)
c.3231A>G (p.Gln1077=)
c.3135A>G (p.Gln1045=)
6g.43044816T>GCA364207380CUL7,KLC4n.1179A>C
c.3108A>C (p.Gln1036His)
n.3669A>C
c.*1405A>C (n.*1405A>C)
n.3391A>C
n.3685A>C
c.1057A>C
n.3947A>C
c.3204A>C (p.Gln1068His)
c.1600A>C
c.-553+1308T>G (n.-553+1308T>G)
c.3360A>C (p.Gln1120His)
c.3264A>C (p.Gln1088His)
c.969A>C (p.Gln323His)
c.3387A>C (p.Gln1129His)
c.3291A>C (p.Gln1097His)
c.3231A>C (p.Gln1077His)
c.3135A>C (p.Gln1045His)
6g.43044816_43044817insCCA2578622005CUL7,KLC4n.1178_1179insG
c.3107_3108insG (p.Ala1037SerfsTer22)
n.3668_3669insG
c.*1404_*1405insG (n.*1404_*1405insG)
n.3390_3391insG
n.3684_3685insG
c.1056_1057insG
n.3946_3947insG
c.3203_3204insG (p.Ala1069SerfsTer22)
c.1599_1600insG
c.-553+1308_-553+1309insC (n.-553+1308_-553+1309insC)
c.3359_3360insG (p.Ala1121SerfsTer22)
c.3263_3264insG (p.Ala1089SerfsTer22)
c.968_969insG (p.Ala324SerfsTer22)
c.3386_3387insG (p.Ala1130SerfsTer22)
c.3290_3291insG (p.Ala1098SerfsTer22)
c.3230_3231insG (p.Ala1078SerfsTer22)
c.3134_3135insG (p.Ala1046SerfsTer22)
6g.43044817T>ACA364207385CUL7,KLC4n.1178A>T
c.3107A>T (p.Gln1036Leu)
n.3668A>T
c.*1404A>T (n.*1404A>T)
n.3390A>T
n.3684A>T
c.1056A>T
n.3946A>T
c.3203A>T (p.Gln1068Leu)
c.1599A>T
c.-553+1309T>A (n.-553+1309T>A)
c.3359A>T (p.Gln1120Leu)
c.3263A>T (p.Gln1088Leu)
c.968A>T (p.Gln323Leu)
c.3386A>T (p.Gln1129Leu)
c.3290A>T (p.Gln1097Leu)
c.3230A>T (p.Gln1077Leu)
c.3134A>T (p.Gln1045Leu)
6g.43044817T>CCA364207392CUL7,KLC4n.1178A>G
c.3107A>G (p.Gln1036Arg)
n.3668A>G
c.*1404A>G (n.*1404A>G)
n.3390A>G
n.3684A>G
c.1056A>G
n.3946A>G
c.3203A>G (p.Gln1068Arg)
c.1599A>G
c.-553+1309T>C (n.-553+1309T>C)
c.3359A>G (p.Gln1120Arg)
c.3263A>G (p.Gln1088Arg)
c.968A>G (p.Gln323Arg)
c.3386A>G (p.Gln1129Arg)
c.3290A>G (p.Gln1097Arg)
c.3230A>G (p.Gln1077Arg)
c.3134A>G (p.Gln1045Arg)
6g.43044817T>GCA364207388CUL7,KLC4n.1178A>C
c.3107A>C (p.Gln1036Pro)
n.3668A>C
c.*1404A>C (n.*1404A>C)
n.3390A>C
n.3684A>C
c.1056A>C
n.3946A>C
c.3203A>C (p.Gln1068Pro)
c.1599A>C
c.-553+1309T>G (n.-553+1309T>G)
c.3359A>C (p.Gln1120Pro)
c.3263A>C (p.Gln1088Pro)
c.968A>C (p.Gln323Pro)
c.3386A>C (p.Gln1129Pro)
c.3290A>C (p.Gln1097Pro)
c.3230A>C (p.Gln1077Pro)
c.3134A>C (p.Gln1045Pro)
6g.43044818G>ACA3813582CUL7,KLC4n.1177C>T
c.3106C>T (p.Gln1036Ter)
n.3667C>T
c.*1403C>T (n.*1403C>T)
n.3389C>T
n.3683C>T
c.1055C>T
n.3945C>T
c.3202C>T (p.Gln1068Ter)
c.1598C>T
c.-553+1310G>A (n.-553+1310G>A)
c.3358C>T (p.Gln1120Ter)
c.3262C>T (p.Gln1088Ter)
c.967C>T (p.Gln323Ter)
c.3385C>T (p.Gln1129Ter)
c.3289C>T (p.Gln1097Ter)
c.3229C>T (p.Gln1077Ter)
c.3133C>T (p.Gln1045Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044818G>CCA364207397CUL7,KLC4n.1177C>G
c.3106C>G (p.Gln1036Glu)
n.3667C>G
c.*1403C>G (n.*1403C>G)
n.3389C>G
n.3683C>G
c.1055C>G
n.3945C>G
c.3202C>G (p.Gln1068Glu)
c.1598C>G
c.-553+1310G>C (n.-553+1310G>C)
c.3358C>G (p.Gln1120Glu)
c.3262C>G (p.Gln1088Glu)
c.967C>G (p.Gln323Glu)
c.3385C>G (p.Gln1129Glu)
c.3289C>G (p.Gln1097Glu)
c.3229C>G (p.Gln1077Glu)
c.3133C>G (p.Gln1045Glu)
6g.43044818G=CA1624355708CUL7,KLC4n.1177C=
c.3106C= (p.Gln1036=)
n.3667C=
c.*1403C= (n.*1403C=)
n.3389C=
n.3683C=
c.1055C=
n.3945C=
c.3202C= (p.Gln1068=)
c.1598C=
c.-553+1310G= (n.-553+1310G=)
c.3358C= (p.Gln1120=)
c.3262C= (p.Gln1088=)
c.967C= (p.Gln323=)
c.3385C= (p.Gln1129=)
c.3289C= (p.Gln1097=)
c.3229C= (p.Gln1077=)
c.3133C= (p.Gln1045=)
6g.43044818G>TCA364207400CUL7,KLC4n.1177C>A
c.3106C>A (p.Gln1036Lys)
n.3667C>A
c.*1403C>A (n.*1403C>A)
n.3389C>A
n.3683C>A
c.1055C>A
n.3945C>A
c.3202C>A (p.Gln1068Lys)
c.1598C>A
c.-553+1310G>T (n.-553+1310G>T)
c.3358C>A (p.Gln1120Lys)
c.3262C>A (p.Gln1088Lys)
c.967C>A (p.Gln323Lys)
c.3385C>A (p.Gln1129Lys)
c.3289C>A (p.Gln1097Lys)
c.3229C>A (p.Gln1077Lys)
c.3133C>A (p.Gln1045Lys)
 COSMIC COSMIC
6g.43044819G>ACA450260218CUL7,KLC4n.1176C>T
c.3105C>T (p.Ala1035=)
n.3666C>T
c.*1402C>T (n.*1402C>T)
n.3388C>T
n.3682C>T
c.1054C>T
n.3944C>T
c.3201C>T (p.Ala1067=)
c.1597C>T
c.-553+1311G>A (n.-553+1311G>A)
c.3357C>T (p.Ala1119=)
c.3261C>T (p.Ala1087=)
c.966C>T (p.Ala322=)
c.3384C>T (p.Ala1128=)
c.3288C>T (p.Ala1096=)
c.3228C>T (p.Ala1076=)
c.3132C>T (p.Ala1044=)
 gnomAD v4
6g.43044819G>CCA450260217CUL7,KLC4n.1176C>G
c.3105C>G (p.Ala1035=)
n.3666C>G
c.*1402C>G (n.*1402C>G)
n.3388C>G
n.3682C>G
c.1054C>G
n.3944C>G
c.3201C>G (p.Ala1067=)
c.1597C>G
c.-553+1311G>C (n.-553+1311G>C)
c.3357C>G (p.Ala1119=)
c.3261C>G (p.Ala1087=)
c.966C>G (p.Ala322=)
c.3384C>G (p.Ala1128=)
c.3288C>G (p.Ala1096=)
c.3228C>G (p.Ala1076=)
c.3132C>G (p.Ala1044=)
6g.43044819G>TCA450260216CUL7,KLC4n.1176C>A
c.3105C>A (p.Ala1035=)
n.3666C>A
c.*1402C>A (n.*1402C>A)
n.3388C>A
n.3682C>A
c.1054C>A
n.3944C>A
c.3201C>A (p.Ala1067=)
c.1597C>A
c.-553+1311G>T (n.-553+1311G>T)
c.3357C>A (p.Ala1119=)
c.3261C>A (p.Ala1087=)
c.966C>A (p.Ala322=)
c.3384C>A (p.Ala1128=)
c.3288C>A (p.Ala1096=)
c.3228C>A (p.Ala1076=)
c.3132C>A (p.Ala1044=)
6g.43044820G>ACA364207403CUL7,KLC4n.1175C>T
c.3104C>T (p.Ala1035Val)
n.3665C>T
c.*1401C>T (n.*1401C>T)
n.3387C>T
n.3681C>T
c.1053C>T
n.3943C>T
c.3200C>T (p.Ala1067Val)
c.1596C>T
c.-553+1312G>A (n.-553+1312G>A)
c.3356C>T (p.Ala1119Val)
c.3260C>T (p.Ala1087Val)
c.965C>T (p.Ala322Val)
c.3383C>T (p.Ala1128Val)
c.3287C>T (p.Ala1096Val)
c.3227C>T (p.Ala1076Val)
c.3131C>T (p.Ala1044Val)
6g.43044820G>CCA364207404CUL7,KLC4n.1175C>G
c.3104C>G (p.Ala1035Gly)
n.3665C>G
c.*1401C>G (n.*1401C>G)
n.3387C>G
n.3681C>G
c.1053C>G
n.3943C>G
c.3200C>G (p.Ala1067Gly)
c.1596C>G
c.-553+1312G>C (n.-553+1312G>C)
c.3356C>G (p.Ala1119Gly)
c.3260C>G (p.Ala1087Gly)
c.965C>G (p.Ala322Gly)
c.3383C>G (p.Ala1128Gly)
c.3287C>G (p.Ala1096Gly)
c.3227C>G (p.Ala1076Gly)
c.3131C>G (p.Ala1044Gly)
6g.43044820G>TCA364207405CUL7,KLC4n.1175C>A
c.3104C>A (p.Ala1035Asp)
n.3665C>A
c.*1401C>A (n.*1401C>A)
n.3387C>A
n.3681C>A
c.1053C>A
n.3943C>A
c.3200C>A (p.Ala1067Asp)
c.1596C>A
c.-553+1312G>T (n.-553+1312G>T)
c.3356C>A (p.Ala1119Asp)
c.3260C>A (p.Ala1087Asp)
c.965C>A (p.Ala322Asp)
c.3383C>A (p.Ala1128Asp)
c.3287C>A (p.Ala1096Asp)
c.3227C>A (p.Ala1076Asp)
c.3131C>A (p.Ala1044Asp)
6g.43044821C>ACA364207406CUL7,KLC4n.1174G>T
c.3103G>T (p.Ala1035Ser)
n.3664G>T
c.*1400G>T (n.*1400G>T)
n.3386G>T
n.3680G>T
c.1052G>T
n.3942G>T
c.3199G>T (p.Ala1067Ser)
c.1595G>T
c.-553+1313C>A (n.-553+1313C>A)
c.3355G>T (p.Ala1119Ser)
c.3259G>T (p.Ala1087Ser)
c.964G>T (p.Ala322Ser)
c.3382G>T (p.Ala1128Ser)
c.3286G>T (p.Ala1096Ser)
c.3226G>T (p.Ala1076Ser)
c.3130G>T (p.Ala1044Ser)
6g.43044821C>GCA364207407CUL7,KLC4n.1174G>C
c.3103G>C (p.Ala1035Pro)
n.3664G>C
c.*1400G>C (n.*1400G>C)
n.3386G>C
n.3680G>C
c.1052G>C
n.3942G>C
c.3199G>C (p.Ala1067Pro)
c.1595G>C
c.-553+1313C>G (n.-553+1313C>G)
c.3355G>C (p.Ala1119Pro)
c.3259G>C (p.Ala1087Pro)
c.964G>C (p.Ala322Pro)
c.3382G>C (p.Ala1128Pro)
c.3286G>C (p.Ala1096Pro)
c.3226G>C (p.Ala1076Pro)
c.3130G>C (p.Ala1044Pro)
6g.43044821C>TCA364207414CUL7,KLC4n.1174G>A
c.3103G>A (p.Ala1035Thr)
n.3664G>A
c.*1400G>A (n.*1400G>A)
n.3386G>A
n.3680G>A
c.1052G>A
n.3942G>A
c.3199G>A (p.Ala1067Thr)
c.1595G>A
c.-553+1313C>T (n.-553+1313C>T)
c.3355G>A (p.Ala1119Thr)
c.3259G>A (p.Ala1087Thr)
c.964G>A (p.Ala322Thr)
c.3382G>A (p.Ala1128Thr)
c.3286G>A (p.Ala1096Thr)
c.3226G>A (p.Ala1076Thr)
c.3130G>A (p.Ala1044Thr)
6g.43044822A>CCA450260224CUL7,KLC4n.1173T>G
c.3102T>G (p.Ala1034=)
n.3663T>G
c.*1399T>G (n.*1399T>G)
n.3385T>G
n.3679T>G
c.1051T>G
n.3941T>G
c.3198T>G (p.Ala1066=)
c.1594T>G
c.-553+1314A>C (n.-553+1314A>C)
c.3354T>G (p.Ala1118=)
c.3258T>G (p.Ala1086=)
c.963T>G (p.Ala321=)
c.3381T>G (p.Ala1127=)
c.3285T>G (p.Ala1095=)
c.3225T>G (p.Ala1075=)
c.3129T>G (p.Ala1043=)
6g.43044822A>GCA450260222CUL7,KLC4n.1173T>C
c.3102T>C (p.Ala1034=)
n.3663T>C
c.*1399T>C (n.*1399T>C)
n.3385T>C
n.3679T>C
c.1051T>C
n.3941T>C
c.3198T>C (p.Ala1066=)
c.1594T>C
c.-553+1314A>G (n.-553+1314A>G)
c.3354T>C (p.Ala1118=)
c.3258T>C (p.Ala1086=)
c.963T>C (p.Ala321=)
c.3381T>C (p.Ala1127=)
c.3285T>C (p.Ala1095=)
c.3225T>C (p.Ala1075=)
c.3129T>C (p.Ala1043=)
6g.43044822A>TCA450260221CUL7,KLC4n.1173T>A
c.3102T>A (p.Ala1034=)
n.3663T>A
c.*1399T>A (n.*1399T>A)
n.3385T>A
n.3679T>A
c.1051T>A
n.3941T>A
c.3198T>A (p.Ala1066=)
c.1594T>A
c.-553+1314A>T (n.-553+1314A>T)
c.3354T>A (p.Ala1118=)
c.3258T>A (p.Ala1086=)
c.963T>A (p.Ala321=)
c.3381T>A (p.Ala1127=)
c.3285T>A (p.Ala1095=)
c.3225T>A (p.Ala1075=)
c.3129T>A (p.Ala1043=)
6g.43044823G>ACA364207417CUL7,KLC4n.1172C>T
c.3101C>T (p.Ala1034Val)
n.3662C>T
c.*1398C>T (n.*1398C>T)
n.3384C>T
n.3678C>T
c.1050C>T
n.3940C>T
c.3197C>T (p.Ala1066Val)
c.1593C>T
c.-553+1315G>A (n.-553+1315G>A)
c.3353C>T (p.Ala1118Val)
c.3257C>T (p.Ala1086Val)
c.962C>T (p.Ala321Val)
c.3380C>T (p.Ala1127Val)
c.3284C>T (p.Ala1095Val)
c.3224C>T (p.Ala1075Val)
c.3128C>T (p.Ala1043Val)
 gnomAD v4
6g.43044823G>CCA364207418CUL7,KLC4n.1172C>G
c.3101C>G (p.Ala1034Gly)
n.3662C>G
c.*1398C>G (n.*1398C>G)
n.3384C>G
n.3678C>G
c.1050C>G
n.3940C>G
c.3197C>G (p.Ala1066Gly)
c.1593C>G
c.-553+1315G>C (n.-553+1315G>C)
c.3353C>G (p.Ala1118Gly)
c.3257C>G (p.Ala1086Gly)
c.962C>G (p.Ala321Gly)
c.3380C>G (p.Ala1127Gly)
c.3284C>G (p.Ala1095Gly)
c.3224C>G (p.Ala1075Gly)
c.3128C>G (p.Ala1043Gly)
6g.43044823G>TCA364207419CUL7,KLC4n.1172C>A
c.3101C>A (p.Ala1034Asp)
n.3662C>A
c.*1398C>A (n.*1398C>A)
n.3384C>A
n.3678C>A
c.1050C>A
n.3940C>A
c.3197C>A (p.Ala1066Asp)
c.1593C>A
c.-553+1315G>T (n.-553+1315G>T)
c.3353C>A (p.Ala1118Asp)
c.3257C>A (p.Ala1086Asp)
c.962C>A (p.Ala321Asp)
c.3380C>A (p.Ala1127Asp)
c.3284C>A (p.Ala1095Asp)
c.3224C>A (p.Ala1075Asp)
c.3128C>A (p.Ala1043Asp)
6g.43044824C>ACA364207426CUL7,KLC4n.1171G>T
c.3100G>T (p.Ala1034Ser)
n.3661G>T
c.*1397G>T (n.*1397G>T)
n.3383G>T
n.3677G>T
c.1049G>T
n.3939G>T
c.3196G>T (p.Ala1066Ser)
c.1592G>T
c.-553+1316C>A (n.-553+1316C>A)
c.3352G>T (p.Ala1118Ser)
c.3256G>T (p.Ala1086Ser)
c.961G>T (p.Ala321Ser)
c.3379G>T (p.Ala1127Ser)
c.3283G>T (p.Ala1095Ser)
c.3223G>T (p.Ala1075Ser)
c.3127G>T (p.Ala1043Ser)
6g.43044824C>GCA364207422CUL7,KLC4n.1171G>C
c.3100G>C (p.Ala1034Pro)
n.3661G>C
c.*1397G>C (n.*1397G>C)
n.3383G>C
n.3677G>C
c.1049G>C
n.3939G>C
c.3196G>C (p.Ala1066Pro)
c.1592G>C
c.-553+1316C>G (n.-553+1316C>G)
c.3352G>C (p.Ala1118Pro)
c.3256G>C (p.Ala1086Pro)
c.961G>C (p.Ala321Pro)
c.3379G>C (p.Ala1127Pro)
c.3283G>C (p.Ala1095Pro)
c.3223G>C (p.Ala1075Pro)
c.3127G>C (p.Ala1043Pro)
6g.43044824C>TCA364207420CUL7,KLC4n.1171G>A
c.3100G>A (p.Ala1034Thr)
n.3661G>A
c.*1397G>A (n.*1397G>A)
n.3383G>A
n.3677G>A
c.1049G>A
n.3939G>A
c.3196G>A (p.Ala1066Thr)
c.1592G>A
c.-553+1316C>T (n.-553+1316C>T)
c.3352G>A (p.Ala1118Thr)
c.3256G>A (p.Ala1086Thr)
c.961G>A (p.Ala321Thr)
c.3379G>A (p.Ala1127Thr)
c.3283G>A (p.Ala1095Thr)
c.3223G>A (p.Ala1075Thr)
c.3127G>A (p.Ala1043Thr)
6g.43044825C>ACA364207431CUL7,KLC4n.1170G>T
c.3099G>T (p.Glu1033Asp)
n.3660G>T
c.*1396G>T (n.*1396G>T)
n.3382G>T
n.3676G>T
c.1048G>T
n.3938G>T
c.3195G>T (p.Glu1065Asp)
c.1591G>T
c.-553+1317C>A (n.-553+1317C>A)
c.3351G>T (p.Glu1117Asp)
c.3255G>T (p.Glu1085Asp)
c.960G>T (p.Glu320Asp)
c.3378G>T (p.Glu1126Asp)
c.3282G>T (p.Glu1094Asp)
c.3222G>T (p.Glu1074Asp)
c.3126G>T (p.Glu1042Asp)
6g.43044825C>GCA364207434CUL7,KLC4n.1170G>C
c.3099G>C (p.Glu1033Asp)
n.3660G>C
c.*1396G>C (n.*1396G>C)
n.3382G>C
n.3676G>C
c.1048G>C
n.3938G>C
c.3195G>C (p.Glu1065Asp)
c.1591G>C
c.-553+1317C>G (n.-553+1317C>G)
c.3351G>C (p.Glu1117Asp)
c.3255G>C (p.Glu1085Asp)
c.960G>C (p.Glu320Asp)
c.3378G>C (p.Glu1126Asp)
c.3282G>C (p.Glu1094Asp)
c.3222G>C (p.Glu1074Asp)
c.3126G>C (p.Glu1042Asp)
6g.43044825C>TCA450260225CUL7,KLC4n.1170G>A
c.3099G>A (p.Glu1033=)
n.3660G>A
c.*1396G>A (n.*1396G>A)
n.3382G>A
n.3676G>A
c.1048G>A
n.3938G>A
c.3195G>A (p.Glu1065=)
c.1591G>A
c.-553+1317C>T (n.-553+1317C>T)
c.3351G>A (p.Glu1117=)
c.3255G>A (p.Glu1085=)
c.960G>A (p.Glu320=)
c.3378G>A (p.Glu1126=)
c.3282G>A (p.Glu1094=)
c.3222G>A (p.Glu1074=)
c.3126G>A (p.Glu1042=)
6g.43044826T>ACA364207437CUL7,KLC4n.1169A>T
c.3098A>T (p.Glu1033Val)
n.3659A>T
c.*1395A>T (n.*1395A>T)
n.3381A>T
n.3675A>T
c.1047A>T
n.3937A>T
c.3194A>T (p.Glu1065Val)
c.1590A>T
c.-553+1318T>A (n.-553+1318T>A)
c.3350A>T (p.Glu1117Val)
c.3254A>T (p.Glu1085Val)
c.959A>T (p.Glu320Val)
c.3377A>T (p.Glu1126Val)
c.3281A>T (p.Glu1094Val)
c.3221A>T (p.Glu1074Val)
c.3125A>T (p.Glu1042Val)
6g.43044826T>CCA364207440CUL7,KLC4n.1169A>G
c.3098A>G (p.Glu1033Gly)
n.3659A>G
c.*1395A>G (n.*1395A>G)
n.3381A>G
n.3675A>G
c.1047A>G
n.3937A>G
c.3194A>G (p.Glu1065Gly)
c.1590A>G
c.-553+1318T>C (n.-553+1318T>C)
c.3350A>G (p.Glu1117Gly)
c.3254A>G (p.Glu1085Gly)
c.959A>G (p.Glu320Gly)
c.3377A>G (p.Glu1126Gly)
c.3281A>G (p.Glu1094Gly)
c.3221A>G (p.Glu1074Gly)
c.3125A>G (p.Glu1042Gly)
6g.43044826T>GCA364207441CUL7,KLC4n.1169A>C
c.3098A>C (p.Glu1033Ala)
n.3659A>C
c.*1395A>C (n.*1395A>C)
n.3381A>C
n.3675A>C
c.1047A>C
n.3937A>C
c.3194A>C (p.Glu1065Ala)
c.1590A>C
c.-553+1318T>G (n.-553+1318T>G)
c.3350A>C (p.Glu1117Ala)
c.3254A>C (p.Glu1085Ala)
c.959A>C (p.Glu320Ala)
c.3377A>C (p.Glu1126Ala)
c.3281A>C (p.Glu1094Ala)
c.3221A>C (p.Glu1074Ala)
c.3125A>C (p.Glu1042Ala)
6g.43044827C>ACA364207443CUL7,KLC4n.1168G>T
c.3097G>T (p.Glu1033Ter)
n.3658G>T
c.*1394G>T (n.*1394G>T)
n.3380G>T
n.3674G>T
c.1046G>T
n.3936G>T
c.3193G>T (p.Glu1065Ter)
c.1589G>T
c.-553+1319C>A (n.-553+1319C>A)
c.3349G>T (p.Glu1117Ter)
c.3253G>T (p.Glu1085Ter)
c.958G>T (p.Glu320Ter)
c.3376G>T (p.Glu1126Ter)
c.3280G>T (p.Glu1094Ter)
c.3220G>T (p.Glu1074Ter)
c.3124G>T (p.Glu1042Ter)
6g.43044827C=CA1624355709CUL7,KLC4n.1168G=
c.3097G= (p.Glu1033=)
n.3658G=
c.*1394G= (n.*1394G=)
n.3380G=
n.3674G=
c.1046G=
n.3936G=
c.3193G= (p.Glu1065=)
c.1589G=
c.-553+1319C= (n.-553+1319C=)
c.3349G= (p.Glu1117=)
c.3253G= (p.Glu1085=)
c.958G= (p.Glu320=)
c.3376G= (p.Glu1126=)
c.3280G= (p.Glu1094=)
c.3220G= (p.Glu1074=)
c.3124G= (p.Glu1042=)
6g.43044827C>GCA364207445CUL7,KLC4n.1168G>C
c.3097G>C (p.Glu1033Gln)
n.3658G>C
c.*1394G>C (n.*1394G>C)
n.3380G>C
n.3674G>C
c.1046G>C
n.3936G>C
c.3193G>C (p.Glu1065Gln)
c.1589G>C
c.-553+1319C>G (n.-553+1319C>G)
c.3349G>C (p.Glu1117Gln)
c.3253G>C (p.Glu1085Gln)
c.958G>C (p.Glu320Gln)
c.3376G>C (p.Glu1126Gln)
c.3280G>C (p.Glu1094Gln)
c.3220G>C (p.Glu1074Gln)
c.3124G>C (p.Glu1042Gln)
 gnomAD v4
6g.43044827C>TCA3813583CUL7,KLC4n.1168G>A
c.3097G>A (p.Glu1033Lys)
n.3658G>A
c.*1394G>A (n.*1394G>A)
n.3380G>A
n.3674G>A
c.1046G>A
n.3936G>A
c.3193G>A (p.Glu1065Lys)
c.1589G>A
c.-553+1319C>T (n.-553+1319C>T)
c.3349G>A (p.Glu1117Lys)
c.3253G>A (p.Glu1085Lys)
c.958G>A (p.Glu320Lys)
c.3376G>A (p.Glu1126Lys)
c.3280G>A (p.Glu1094Lys)
c.3220G>A (p.Glu1074Lys)
c.3124G>A (p.Glu1042Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044828G>ACA3813584CUL7,KLC4n.1167C>T
c.3096C>T (p.Asp1032=)
n.3657C>T
c.*1393C>T (n.*1393C>T)
n.3379C>T
n.3673C>T
c.1045C>T
n.3935C>T
c.3192C>T (p.Asp1064=)
c.1588C>T
c.-553+1320G>A (n.-553+1320G>A)
c.3348C>T (p.Asp1116=)
c.3252C>T (p.Asp1084=)
c.957C>T (p.Asp319=)
c.3375C>T (p.Asp1125=)
c.3279C>T (p.Asp1093=)
c.3219C>T (p.Asp1073=)
c.3123C>T (p.Asp1041=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.43044828G>CCA3813585CUL7,KLC4n.1167C>G
c.3096C>G (p.Asp1032Glu)
n.3657C>G
c.*1393C>G (n.*1393C>G)
n.3379C>G
n.3673C>G
c.1045C>G
n.3935C>G
c.3192C>G (p.Asp1064Glu)
c.1588C>G
c.-553+1320G>C (n.-553+1320G>C)
c.3348C>G (p.Asp1116Glu)
c.3252C>G (p.Asp1084Glu)
c.957C>G (p.Asp319Glu)
c.3375C>G (p.Asp1125Glu)
c.3279C>G (p.Asp1093Glu)
c.3219C>G (p.Asp1073Glu)
c.3123C>G (p.Asp1041Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044828G=CA1624355710CUL7,KLC4n.1167C=
c.3096C= (p.Asp1032=)
n.3657C=
c.*1393C= (n.*1393C=)
n.3379C=
n.3673C=
c.1045C=
n.3935C=
c.3192C= (p.Asp1064=)
c.1588C=
c.-553+1320G= (n.-553+1320G=)
c.3348C= (p.Asp1116=)
c.3252C= (p.Asp1084=)
c.957C= (p.Asp319=)
c.3375C= (p.Asp1125=)
c.3279C= (p.Asp1093=)
c.3219C= (p.Asp1073=)
c.3123C= (p.Asp1041=)
6g.43044828G>TCA364207461CUL7,KLC4n.1167C>A
c.3096C>A (p.Asp1032Glu)
n.3657C>A
c.*1393C>A (n.*1393C>A)
n.3379C>A
n.3673C>A
c.1045C>A
n.3935C>A
c.3192C>A (p.Asp1064Glu)
c.1588C>A
c.-553+1320G>T (n.-553+1320G>T)
c.3348C>A (p.Asp1116Glu)
c.3252C>A (p.Asp1084Glu)
c.957C>A (p.Asp319Glu)
c.3375C>A (p.Asp1125Glu)
c.3279C>A (p.Asp1093Glu)
c.3219C>A (p.Asp1073Glu)
c.3123C>A (p.Asp1041Glu)
6g.43044829T>ACA364207464CUL7,KLC4n.1166A>T
c.3095A>T (p.Asp1032Val)
n.3656A>T
c.*1392A>T (n.*1392A>T)
n.3378A>T
n.3672A>T
c.1044A>T
n.3934A>T
c.3191A>T (p.Asp1064Val)
c.1587A>T
c.-553+1321T>A (n.-553+1321T>A)
c.3347A>T (p.Asp1116Val)
c.3251A>T (p.Asp1084Val)
c.956A>T (p.Asp319Val)
c.3374A>T (p.Asp1125Val)
c.3278A>T (p.Asp1093Val)
c.3218A>T (p.Asp1073Val)
c.3122A>T (p.Asp1041Val)
6g.43044829T>CCA364207465CUL7,KLC4n.1166A>G
c.3095A>G (p.Asp1032Gly)
n.3656A>G
c.*1392A>G (n.*1392A>G)
n.3378A>G
n.3672A>G
c.1044A>G
n.3934A>G
c.3191A>G (p.Asp1064Gly)
c.1587A>G
c.-553+1321T>C (n.-553+1321T>C)
c.3347A>G (p.Asp1116Gly)
c.3251A>G (p.Asp1084Gly)
c.956A>G (p.Asp319Gly)
c.3374A>G (p.Asp1125Gly)
c.3278A>G (p.Asp1093Gly)
c.3218A>G (p.Asp1073Gly)
c.3122A>G (p.Asp1041Gly)
6g.43044829T>GCA364207468CUL7,KLC4n.1166A>C
c.3095A>C (p.Asp1032Ala)
n.3656A>C
c.*1392A>C (n.*1392A>C)
n.3378A>C
n.3672A>C
c.1044A>C
n.3934A>C
c.3191A>C (p.Asp1064Ala)
c.1587A>C
c.-553+1321T>G (n.-553+1321T>G)
c.3347A>C (p.Asp1116Ala)
c.3251A>C (p.Asp1084Ala)
c.956A>C (p.Asp319Ala)
c.3374A>C (p.Asp1125Ala)
c.3278A>C (p.Asp1093Ala)
c.3218A>C (p.Asp1073Ala)
c.3122A>C (p.Asp1041Ala)
6g.43044830C>ACA364207477CUL7,KLC4n.1165G>T
c.3094G>T (p.Asp1032Tyr)
n.3655G>T
c.*1391G>T (n.*1391G>T)
n.3377G>T
n.3671G>T
c.1043G>T
n.3933G>T
c.3190G>T (p.Asp1064Tyr)
c.1586G>T
c.-553+1322C>A (n.-553+1322C>A)
c.3346G>T (p.Asp1116Tyr)
c.3250G>T (p.Asp1084Tyr)
c.955G>T (p.Asp319Tyr)
c.3373G>T (p.Asp1125Tyr)
c.3277G>T (p.Asp1093Tyr)
c.3217G>T (p.Asp1073Tyr)
c.3121G>T (p.Asp1041Tyr)
6g.43044830C>GCA364207472CUL7,KLC4n.1165G>C
c.3094G>C (p.Asp1032His)
n.3655G>C
c.*1391G>C (n.*1391G>C)
n.3377G>C
n.3671G>C
c.1043G>C
n.3933G>C
c.3190G>C (p.Asp1064His)
c.1586G>C
c.-553+1322C>G (n.-553+1322C>G)
c.3346G>C (p.Asp1116His)
c.3250G>C (p.Asp1084His)
c.955G>C (p.Asp319His)
c.3373G>C (p.Asp1125His)
c.3277G>C (p.Asp1093His)
c.3217G>C (p.Asp1073His)
c.3121G>C (p.Asp1041His)
6g.43044830C>TCA364207475CUL7,KLC4n.1165G>A
c.3094G>A (p.Asp1032Asn)
n.3655G>A
c.*1391G>A (n.*1391G>A)
n.3377G>A
n.3671G>A
c.1043G>A
n.3933G>A
c.3190G>A (p.Asp1064Asn)
c.1586G>A
c.-553+1322C>T (n.-553+1322C>T)
c.3346G>A (p.Asp1116Asn)
c.3250G>A (p.Asp1084Asn)
c.955G>A (p.Asp319Asn)
c.3373G>A (p.Asp1125Asn)
c.3277G>A (p.Asp1093Asn)
c.3217G>A (p.Asp1073Asn)
c.3121G>A (p.Asp1041Asn)
6g.43044831A>CCA364207481CUL7,KLC4n.1164T>G
c.3093T>G (p.Asp1031Glu)
n.3654T>G
c.*1390T>G (n.*1390T>G)
n.3376T>G
n.3670T>G
c.1042T>G
n.3932T>G
c.3189T>G (p.Asp1063Glu)
c.1585T>G
c.-553+1323A>C (n.-553+1323A>C)
c.3345T>G (p.Asp1115Glu)
c.3249T>G (p.Asp1083Glu)
c.954T>G (p.Asp318Glu)
c.3372T>G (p.Asp1124Glu)
c.3276T>G (p.Asp1092Glu)
c.3216T>G (p.Asp1072Glu)
c.3120T>G (p.Asp1040Glu)
6g.43044831A>GCA450260230CUL7,KLC4n.1164T>C
c.3093T>C (p.Asp1031=)
n.3654T>C
c.*1390T>C (n.*1390T>C)
n.3376T>C
n.3670T>C
c.1042T>C
n.3932T>C
c.3189T>C (p.Asp1063=)
c.1585T>C
c.-553+1323A>G (n.-553+1323A>G)
c.3345T>C (p.Asp1115=)
c.3249T>C (p.Asp1083=)
c.954T>C (p.Asp318=)
c.3372T>C (p.Asp1124=)
c.3276T>C (p.Asp1092=)
c.3216T>C (p.Asp1072=)
c.3120T>C (p.Asp1040=)
 dbSNP
6g.43044831A>TCA364207482CUL7,KLC4n.1164T>A
c.3093T>A (p.Asp1031Glu)
n.3654T>A
c.*1390T>A (n.*1390T>A)
n.3376T>A
n.3670T>A
c.1042T>A
n.3932T>A
c.3189T>A (p.Asp1063Glu)
c.1585T>A
c.-553+1323A>T (n.-553+1323A>T)
c.3345T>A (p.Asp1115Glu)
c.3249T>A (p.Asp1083Glu)
c.954T>A (p.Asp318Glu)
c.3372T>A (p.Asp1124Glu)
c.3276T>A (p.Asp1092Glu)
c.3216T>A (p.Asp1072Glu)
c.3120T>A (p.Asp1040Glu)
6g.43044832T>ACA364207486CUL7,KLC4n.1163A>T
c.3092A>T (p.Asp1031Val)
n.3653A>T
c.*1389A>T (n.*1389A>T)
n.3375A>T
n.3669A>T
c.1041A>T
n.3931A>T
c.3188A>T (p.Asp1063Val)
c.1584A>T
c.-553+1324T>A (n.-553+1324T>A)
c.3344A>T (p.Asp1115Val)
c.3248A>T (p.Asp1083Val)
c.953A>T (p.Asp318Val)
c.3371A>T (p.Asp1124Val)
c.3275A>T (p.Asp1092Val)
c.3215A>T (p.Asp1072Val)
c.3119A>T (p.Asp1040Val)
6g.43044832T>CCA364207488CUL7,KLC4n.1163A>G
c.3092A>G (p.Asp1031Gly)
n.3653A>G
c.*1389A>G (n.*1389A>G)
n.3375A>G
n.3669A>G
c.1041A>G
n.3931A>G
c.3188A>G (p.Asp1063Gly)
c.1584A>G
c.-553+1324T>C (n.-553+1324T>C)
c.3344A>G (p.Asp1115Gly)
c.3248A>G (p.Asp1083Gly)
c.953A>G (p.Asp318Gly)
c.3371A>G (p.Asp1124Gly)
c.3275A>G (p.Asp1092Gly)
c.3215A>G (p.Asp1072Gly)
c.3119A>G (p.Asp1040Gly)
6g.43044832T>GCA364207491CUL7,KLC4n.1163A>C
c.3092A>C (p.Asp1031Ala)
n.3653A>C
c.*1389A>C (n.*1389A>C)
n.3375A>C
n.3669A>C
c.1041A>C
n.3931A>C
c.3188A>C (p.Asp1063Ala)
c.1584A>C
c.-553+1324T>G (n.-553+1324T>G)
c.3344A>C (p.Asp1115Ala)
c.3248A>C (p.Asp1083Ala)
c.953A>C (p.Asp318Ala)
c.3371A>C (p.Asp1124Ala)
c.3275A>C (p.Asp1092Ala)
c.3215A>C (p.Asp1072Ala)
c.3119A>C (p.Asp1040Ala)
6g.43044833C>ACA364207498CUL7,KLC4n.1162G>T
c.3091G>T (p.Asp1031Tyr)
n.3652G>T
c.*1388G>T (n.*1388G>T)
n.3374G>T
n.3668G>T
c.1040G>T
n.3930G>T
c.3187G>T (p.Asp1063Tyr)
c.1583G>T
c.-553+1325C>A (n.-553+1325C>A)
c.3343G>T (p.Asp1115Tyr)
c.3247G>T (p.Asp1083Tyr)
c.952G>T (p.Asp318Tyr)
c.3370G>T (p.Asp1124Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3118G>T (p.Asp1040Tyr)
6g.43044833C>GCA364207500CUL7,KLC4n.1162G>C
c.3091G>C (p.Asp1031His)
n.3652G>C
c.*1388G>C (n.*1388G>C)
n.3374G>C
n.3668G>C
c.1040G>C
n.3930G>C
c.3187G>C (p.Asp1063His)
c.1583G>C
c.-553+1325C>G (n.-553+1325C>G)
c.3343G>C (p.Asp1115His)
c.3247G>C (p.Asp1083His)
c.952G>C (p.Asp318His)
c.3370G>C (p.Asp1124His)
c.3274G>C (p.Asp1092His)
c.3214G>C (p.Asp1072His)
c.3118G>C (p.Asp1040His)
6g.43044833C>TCA364207505CUL7,KLC4n.1162G>A
c.3091G>A (p.Asp1031Asn)
n.3652G>A
c.*1388G>A (n.*1388G>A)
n.3374G>A
n.3668G>A
c.1040G>A
n.3930G>A
c.3187G>A (p.Asp1063Asn)
c.1583G>A
c.-553+1325C>T (n.-553+1325C>T)
c.3343G>A (p.Asp1115Asn)
c.3247G>A (p.Asp1083Asn)
c.952G>A (p.Asp318Asn)
c.3370G>A (p.Asp1124Asn)
c.3274G>A (p.Asp1092Asn)
c.3214G>A (p.Asp1072Asn)
c.3118G>A (p.Asp1040Asn)
6g.43044834A=CA1624355712CUL7,KLC4n.1161T=
c.3090T= (p.Pro1030=)
n.3651T=
c.*1387T= (n.*1387T=)
n.3373T=
n.3667T=
c.1039T=
n.3929T=
c.3186T= (p.Pro1062=)
c.1582T=
c.-553+1326A= (n.-553+1326A=)
c.3342T= (p.Pro1114=)
c.3246T= (p.Pro1082=)
c.951T= (p.Pro317=)
c.3369T= (p.Pro1123=)
c.3273T= (p.Pro1091=)
c.3213T= (p.Pro1071=)
c.3117T= (p.Pro1039=)
6g.43044834A>CCA450260234CUL7,KLC4n.1161T>G
c.3090T>G (p.Pro1030=)
n.3651T>G
c.*1387T>G (n.*1387T>G)
n.3373T>G
n.3667T>G
c.1039T>G
n.3929T>G
c.3186T>G (p.Pro1062=)
c.1582T>G
c.-553+1326A>C (n.-553+1326A>C)
c.3342T>G (p.Pro1114=)
c.3246T>G (p.Pro1082=)
c.951T>G (p.Pro317=)
c.3369T>G (p.Pro1123=)
c.3273T>G (p.Pro1091=)
c.3213T>G (p.Pro1071=)
c.3117T>G (p.Pro1039=)
6g.43044834A>GCA450260235CUL7,KLC4n.1161T>C
c.3090T>C (p.Pro1030=)
n.3651T>C
c.*1387T>C (n.*1387T>C)
n.3373T>C
n.3667T>C
c.1039T>C
n.3929T>C
c.3186T>C (p.Pro1062=)
c.1582T>C
c.-553+1326A>G (n.-553+1326A>G)
c.3342T>C (p.Pro1114=)
c.3246T>C (p.Pro1082=)
c.951T>C (p.Pro317=)
c.3369T>C (p.Pro1123=)
c.3273T>C (p.Pro1091=)
c.3213T>C (p.Pro1071=)
c.3117T>C (p.Pro1039=)
6g.43044834A>TCA450260236CUL7,KLC4n.1161T>A
c.3090T>A (p.Pro1030=)
n.3651T>A
c.*1387T>A (n.*1387T>A)
n.3373T>A
n.3667T>A
c.1039T>A
n.3929T>A
c.3186T>A (p.Pro1062=)
c.1582T>A
c.-553+1326A>T (n.-553+1326A>T)
c.3342T>A (p.Pro1114=)
c.3246T>A (p.Pro1082=)
c.951T>A (p.Pro317=)
c.3369T>A (p.Pro1123=)
c.3273T>A (p.Pro1091=)
c.3213T>A (p.Pro1071=)
c.3117T>A (p.Pro1039=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43044834_43044835delinsAGCA1624355711CUL7,KLC4n.1160_1161delinsCT
c.3089_3090delinsCT (p.Pro1030=)
n.3650_3651delinsCT
c.*1386_*1387delinsCT (n.*1386_*1387delinsCT)
n.3372_3373delinsCT
n.3666_3667delinsCT
c.1038_1039delinsCT
n.3928_3929delinsCT
c.3185_3186delinsCT (p.Pro1062=)
c.1581_1582delinsCT
c.-553+1326_-553+1327delinsAG (n.-553+1326_-553+1327delinsAG)
c.3341_3342delinsCT (p.Pro1114=)
c.3245_3246delinsCT (p.Pro1082=)
c.950_951delinsCT (p.Pro317=)
c.3368_3369delinsCT (p.Pro1123=)
c.3272_3273delinsCT (p.Pro1091=)
c.3212_3213delinsCT (p.Pro1071=)
c.3116_3117delinsCT (p.Pro1039=)
6g.43044835G>ACA364207514CUL7,KLC4n.1160C>T
c.3089C>T (p.Pro1030Leu)
n.3650C>T
c.*1386C>T (n.*1386C>T)
n.3372C>T
n.3666C>T
c.1038C>T
n.3928C>T
c.3185C>T (p.Pro1062Leu)
c.1581C>T
c.-553+1327G>A (n.-553+1327G>A)
c.3341C>T (p.Pro1114Leu)
c.3245C>T (p.Pro1082Leu)
c.950C>T (p.Pro317Leu)
c.3368C>T (p.Pro1123Leu)
c.3272C>T (p.Pro1091Leu)
c.3212C>T (p.Pro1071Leu)
c.3116C>T (p.Pro1039Leu)
 gnomAD v4
6g.43044835G>CCA364207520CUL7,KLC4n.1160C>G
c.3089C>G (p.Pro1030Arg)
n.3650C>G
c.*1386C>G (n.*1386C>G)
n.3372C>G
n.3666C>G
c.1038C>G
n.3928C>G
c.3185C>G (p.Pro1062Arg)
c.1581C>G
c.-553+1327G>C (n.-553+1327G>C)
c.3341C>G (p.Pro1114Arg)
c.3245C>G (p.Pro1082Arg)
c.950C>G (p.Pro317Arg)
c.3368C>G (p.Pro1123Arg)
c.3272C>G (p.Pro1091Arg)
c.3212C>G (p.Pro1071Arg)
c.3116C>G (p.Pro1039Arg)
6g.43044835G>TCA364207524CUL7,KLC4n.1160C>A
c.3089C>A (p.Pro1030His)
n.3650C>A
c.*1386C>A (n.*1386C>A)
n.3372C>A
n.3666C>A
c.1038C>A
n.3928C>A
c.3185C>A (p.Pro1062His)
c.1581C>A
c.-553+1327G>T (n.-553+1327G>T)
c.3341C>A (p.Pro1114His)
c.3245C>A (p.Pro1082His)
c.950C>A (p.Pro317His)
c.3368C>A (p.Pro1123His)
c.3272C>A (p.Pro1091His)
c.3212C>A (p.Pro1071His)
c.3116C>A (p.Pro1039His)
6g.43044837delCA913189790CUL7,KLC4n.1160del
c.3089del (p.Pro1030LeufsTer?)
n.3650del
c.*1386del (n.*1386del)
n.3372del
n.3666del
c.1038del
n.3928del
c.3185del (p.Pro1062LeufsTer?)
c.1581del
c.-553+1329del (n.-553+1329del)
c.3341del (p.Pro1114LeufsTer?)
c.3245del (p.Pro1082LeufsTer?)
c.950del (p.Pro317LeufsTer?)
c.3368del (p.Pro1123LeufsTer?)
c.3272del (p.Pro1091LeufsTer?)
c.3212del (p.Pro1071LeufsTer?)
c.3116del (p.Pro1039LeufsTer?)
 ClinVar dbSNP
6g.43044836G>ACA364207533CUL7,KLC4n.1159C>T
c.3088C>T (p.Pro1030Ser)
n.3649C>T
c.*1385C>T (n.*1385C>T)
n.3371C>T
n.3665C>T
c.1037C>T
n.3927C>T
c.3184C>T (p.Pro1062Ser)
c.1580C>T
c.-553+1328G>A (n.-553+1328G>A)
c.3340C>T (p.Pro1114Ser)
c.3244C>T (p.Pro1082Ser)
c.949C>T (p.Pro317Ser)
c.3367C>T (p.Pro1123Ser)
c.3271C>T (p.Pro1091Ser)
c.3211C>T (p.Pro1071Ser)
c.3115C>T (p.Pro1039Ser)
6g.43044836G>CCA364207537CUL7,KLC4n.1159C>G
c.3088C>G (p.Pro1030Ala)
n.3649C>G
c.*1385C>G (n.*1385C>G)
n.3371C>G
n.3665C>G
c.1037C>G
n.3927C>G
c.3184C>G (p.Pro1062Ala)
c.1580C>G
c.-553+1328G>C (n.-553+1328G>C)
c.3340C>G (p.Pro1114Ala)
c.3244C>G (p.Pro1082Ala)
c.949C>G (p.Pro317Ala)
c.3367C>G (p.Pro1123Ala)
c.3271C>G (p.Pro1091Ala)
c.3211C>G (p.Pro1071Ala)
c.3115C>G (p.Pro1039Ala)
6g.43044836G>TCA364207528CUL7,KLC4n.1159C>A
c.3088C>A (p.Pro1030Thr)
n.3649C>A
c.*1385C>A (n.*1385C>A)
n.3371C>A
n.3665C>A
c.1037C>A
n.3927C>A
c.3184C>A (p.Pro1062Thr)
c.1580C>A
c.-553+1328G>T (n.-553+1328G>T)
c.3340C>A (p.Pro1114Thr)
c.3244C>A (p.Pro1082Thr)
c.949C>A (p.Pro317Thr)
c.3367C>A (p.Pro1123Thr)
c.3271C>A (p.Pro1091Thr)
c.3211C>A (p.Pro1071Thr)
c.3115C>A (p.Pro1039Thr)
6g.43044837G>ACA3813586CUL7,KLC4n.1158C>T
c.3087C>T (p.Leu1029=)
n.3648C>T
c.*1384C>T (n.*1384C>T)
n.3370C>T
n.3664C>T
c.1036C>T
n.3926C>T
c.3183C>T (p.Leu1061=)
c.1579C>T
c.-553+1329G>A (n.-553+1329G>A)
c.3339C>T (p.Leu1113=)
c.3243C>T (p.Leu1081=)
c.948C>T (p.Leu316=)
c.3366C>T (p.Leu1122=)
c.3270C>T (p.Leu1090=)
c.3210C>T (p.Leu1070=)
c.3114C>T (p.Leu1038=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044837G>CCA450260240CUL7,KLC4n.1158C>G
c.3087C>G (p.Leu1029=)
n.3648C>G
c.*1384C>G (n.*1384C>G)
n.3370C>G
n.3664C>G
c.1036C>G
n.3926C>G
c.3183C>G (p.Leu1061=)
c.1579C>G
c.-553+1329G>C (n.-553+1329G>C)
c.3339C>G (p.Leu1113=)
c.3243C>G (p.Leu1081=)
c.948C>G (p.Leu316=)
c.3366C>G (p.Leu1122=)
c.3270C>G (p.Leu1090=)
c.3210C>G (p.Leu1070=)
c.3114C>G (p.Leu1038=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43044837G=CA1624355713CUL7,KLC4n.1158C=
c.3087C= (p.Leu1029=)
n.3648C=
c.*1384C= (n.*1384C=)
n.3370C=
n.3664C=
c.1036C=
n.3926C=
c.3183C= (p.Leu1061=)
c.1579C=
c.-553+1329G= (n.-553+1329G=)
c.3339C= (p.Leu1113=)
c.3243C= (p.Leu1081=)
c.948C= (p.Leu316=)
c.3366C= (p.Leu1122=)
c.3270C= (p.Leu1090=)
c.3210C= (p.Leu1070=)
c.3114C= (p.Leu1038=)
6g.43044837G>TCA450260241CUL7,KLC4n.1158C>A
c.3087C>A (p.Leu1029=)
n.3648C>A
c.*1384C>A (n.*1384C>A)
n.3370C>A
n.3664C>A
c.1036C>A
n.3926C>A
c.3183C>A (p.Leu1061=)
c.1579C>A
c.-553+1329G>T (n.-553+1329G>T)
c.3339C>A (p.Leu1113=)
c.3243C>A (p.Leu1081=)
c.948C>A (p.Leu316=)
c.3366C>A (p.Leu1122=)
c.3270C>A (p.Leu1090=)
c.3210C>A (p.Leu1070=)
c.3114C>A (p.Leu1038=)
6g.43044838A>CCA364207544CUL7,KLC4n.1157T>G
c.3086T>G (p.Leu1029Arg)
n.3647T>G
c.*1383T>G (n.*1383T>G)
n.3369T>G
n.3663T>G
c.1035T>G
n.3925T>G
c.3182T>G (p.Leu1061Arg)
c.1578T>G
c.-553+1330A>C (n.-553+1330A>C)
c.3338T>G (p.Leu1113Arg)
c.3242T>G (p.Leu1081Arg)
c.947T>G (p.Leu316Arg)
c.3365T>G (p.Leu1122Arg)
c.3269T>G (p.Leu1090Arg)
c.3209T>G (p.Leu1070Arg)
c.3113T>G (p.Leu1038Arg)
6g.43044838A>GCA364207556CUL7,KLC4n.1157T>C
c.3086T>C (p.Leu1029Pro)
n.3647T>C
c.*1383T>C (n.*1383T>C)
n.3369T>C
n.3663T>C
c.1035T>C
n.3925T>C
c.3182T>C (p.Leu1061Pro)
c.1578T>C
c.-553+1330A>G (n.-553+1330A>G)
c.3338T>C (p.Leu1113Pro)
c.3242T>C (p.Leu1081Pro)
c.947T>C (p.Leu316Pro)
c.3365T>C (p.Leu1122Pro)
c.3269T>C (p.Leu1090Pro)
c.3209T>C (p.Leu1070Pro)
c.3113T>C (p.Leu1038Pro)
6g.43044838A>TCA364207562CUL7,KLC4n.1157T>A
c.3086T>A (p.Leu1029His)
n.3647T>A
c.*1383T>A (n.*1383T>A)
n.3369T>A
n.3663T>A
c.1035T>A
n.3925T>A
c.3182T>A (p.Leu1061His)
c.1578T>A
c.-553+1330A>T (n.-553+1330A>T)
c.3338T>A (p.Leu1113His)
c.3242T>A (p.Leu1081His)
c.947T>A (p.Leu316His)
c.3365T>A (p.Leu1122His)
c.3269T>A (p.Leu1090His)
c.3209T>A (p.Leu1070His)
c.3113T>A (p.Leu1038His)
6g.43044839G>ACA364207570CUL7,KLC4n.1156C>T
c.3085C>T (p.Leu1029Phe)
n.3646C>T
c.*1382C>T (n.*1382C>T)
n.3368C>T
n.3662C>T
c.1034C>T
n.3924C>T
c.3181C>T (p.Leu1061Phe)
c.1577C>T
c.-553+1331G>A (n.-553+1331G>A)
c.3337C>T (p.Leu1113Phe)
c.3241C>T (p.Leu1081Phe)
c.946C>T (p.Leu316Phe)
c.3364C>T (p.Leu1122Phe)
c.3268C>T (p.Leu1090Phe)
c.3208C>T (p.Leu1070Phe)
c.3112C>T (p.Leu1038Phe)
 gnomAD v4
6g.43044839G>CCA364207582CUL7,KLC4n.1156C>G
c.3085C>G (p.Leu1029Val)
n.3646C>G
c.*1382C>G (n.*1382C>G)
n.3368C>G
n.3662C>G
c.1034C>G
n.3924C>G
c.3181C>G (p.Leu1061Val)
c.1577C>G
c.-553+1331G>C (n.-553+1331G>C)
c.3337C>G (p.Leu1113Val)
c.3241C>G (p.Leu1081Val)
c.946C>G (p.Leu316Val)
c.3364C>G (p.Leu1122Val)
c.3268C>G (p.Leu1090Val)
c.3208C>G (p.Leu1070Val)
c.3112C>G (p.Leu1038Val)
6g.43044839G>TCA364207584CUL7,KLC4n.1156C>A
c.3085C>A (p.Leu1029Ile)
n.3646C>A
c.*1382C>A (n.*1382C>A)
n.3368C>A
n.3662C>A
c.1034C>A
n.3924C>A
c.3181C>A (p.Leu1061Ile)
c.1577C>A
c.-553+1331G>T (n.-553+1331G>T)
c.3337C>A (p.Leu1113Ile)
c.3241C>A (p.Leu1081Ile)
c.946C>A (p.Leu316Ile)
c.3364C>A (p.Leu1122Ile)
c.3268C>A (p.Leu1090Ile)
c.3208C>A (p.Leu1070Ile)
c.3112C>A (p.Leu1038Ile)
6g.43044840G>ACA450260242CUL7,KLC4n.1155C>T
c.3084C>T (p.Phe1028=)
n.3645C>T
c.*1381C>T (n.*1381C>T)
n.3367C>T
n.3661C>T
c.1033C>T
n.3923C>T
c.3180C>T (p.Phe1060=)
c.1576C>T
c.-553+1332G>A (n.-553+1332G>A)
c.3336C>T (p.Phe1112=)
c.3240C>T (p.Phe1080=)
c.945C>T (p.Phe315=)
c.3363C>T (p.Phe1121=)
c.3267C>T (p.Phe1089=)
c.3207C>T (p.Phe1069=)
c.3111C>T (p.Phe1037=)
6g.43044840G>CCA364207588CUL7,KLC4n.1155C>G
c.3084C>G (p.Phe1028Leu)
n.3645C>G
c.*1381C>G (n.*1381C>G)
n.3367C>G
n.3661C>G
c.1033C>G
n.3923C>G
c.3180C>G (p.Phe1060Leu)
c.1576C>G
c.-553+1332G>C (n.-553+1332G>C)
c.3336C>G (p.Phe1112Leu)
c.3240C>G (p.Phe1080Leu)
c.945C>G (p.Phe315Leu)
c.3363C>G (p.Phe1121Leu)
c.3267C>G (p.Phe1089Leu)
c.3207C>G (p.Phe1069Leu)
c.3111C>G (p.Phe1037Leu)
6g.43044840G>TCA364207589CUL7,KLC4n.1155C>A
c.3084C>A (p.Phe1028Leu)
n.3645C>A
c.*1381C>A (n.*1381C>A)
n.3367C>A
n.3661C>A
c.1033C>A
n.3923C>A
c.3180C>A (p.Phe1060Leu)
c.1576C>A
c.-553+1332G>T (n.-553+1332G>T)
c.3336C>A (p.Phe1112Leu)
c.3240C>A (p.Phe1080Leu)
c.945C>A (p.Phe315Leu)
c.3363C>A (p.Phe1121Leu)
c.3267C>A (p.Phe1089Leu)
c.3207C>A (p.Phe1069Leu)
c.3111C>A (p.Phe1037Leu)
6g.43044841A>CCA364207590CUL7,KLC4n.1154T>G
c.3083T>G (p.Phe1028Cys)
n.3644T>G
c.*1380T>G (n.*1380T>G)
n.3366T>G
n.3660T>G
c.1032T>G
n.3922T>G
c.3179T>G (p.Phe1060Cys)
c.1575T>G
c.-553+1333A>C (n.-553+1333A>C)
c.3335T>G (p.Phe1112Cys)
c.3239T>G (p.Phe1080Cys)
c.944T>G (p.Phe315Cys)
c.3362T>G (p.Phe1121Cys)
c.3266T>G (p.Phe1089Cys)
c.3206T>G (p.Phe1069Cys)
c.3110T>G (p.Phe1037Cys)
6g.43044841A>GCA364207593CUL7,KLC4n.1154T>C
c.3083T>C (p.Phe1028Ser)
n.3644T>C
c.*1380T>C (n.*1380T>C)
n.3366T>C
n.3660T>C
c.1032T>C
n.3922T>C
c.3179T>C (p.Phe1060Ser)
c.1575T>C
c.-553+1333A>G (n.-553+1333A>G)
c.3335T>C (p.Phe1112Ser)
c.3239T>C (p.Phe1080Ser)
c.944T>C (p.Phe315Ser)
c.3362T>C (p.Phe1121Ser)
c.3266T>C (p.Phe1089Ser)
c.3206T>C (p.Phe1069Ser)
c.3110T>C (p.Phe1037Ser)
6g.43044841A>TCA364207597CUL7,KLC4n.1154T>A
c.3083T>A (p.Phe1028Tyr)
n.3644T>A
c.*1380T>A (n.*1380T>A)
n.3366T>A
n.3660T>A
c.1032T>A
n.3922T>A
c.3179T>A (p.Phe1060Tyr)
c.1575T>A
c.-553+1333A>T (n.-553+1333A>T)
c.3335T>A (p.Phe1112Tyr)
c.3239T>A (p.Phe1080Tyr)
c.944T>A (p.Phe315Tyr)
c.3362T>A (p.Phe1121Tyr)
c.3266T>A (p.Phe1089Tyr)
c.3206T>A (p.Phe1069Tyr)
c.3110T>A (p.Phe1037Tyr)
 gnomAD v4
6g.43044842A=CA1624355714CUL7,KLC4n.1153T=
c.3082T= (p.Phe1028=)
n.3643T=
c.*1379T= (n.*1379T=)
n.3365T=
n.3659T=
c.1031T=
n.3921T=
c.3178T= (p.Phe1060=)
c.1574T=
c.-553+1334A= (n.-553+1334A=)
c.3334T= (p.Phe1112=)
c.3238T= (p.Phe1080=)
c.943T= (p.Phe315=)
c.3361T= (p.Phe1121=)
c.3265T= (p.Phe1089=)
c.3205T= (p.Phe1069=)
c.3109T= (p.Phe1037=)
6g.43044842A>CCA3813587CUL7,KLC4n.1153T>G
c.3082T>G (p.Phe1028Val)
n.3643T>G
c.*1379T>G (n.*1379T>G)
n.3365T>G
n.3659T>G
c.1031T>G
n.3921T>G
c.3178T>G (p.Phe1060Val)
c.1574T>G
c.-553+1334A>C (n.-553+1334A>C)
c.3334T>G (p.Phe1112Val)
c.3238T>G (p.Phe1080Val)
c.943T>G (p.Phe315Val)
c.3361T>G (p.Phe1121Val)
c.3265T>G (p.Phe1089Val)
c.3205T>G (p.Phe1069Val)
c.3109T>G (p.Phe1037Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044842A>GCA364207617CUL7,KLC4n.1153T>C
c.3082T>C (p.Phe1028Leu)
n.3643T>C
c.*1379T>C (n.*1379T>C)
n.3365T>C
n.3659T>C
c.1031T>C
n.3921T>C
c.3178T>C (p.Phe1060Leu)
c.1574T>C
c.-553+1334A>G (n.-553+1334A>G)
c.3334T>C (p.Phe1112Leu)
c.3238T>C (p.Phe1080Leu)
c.943T>C (p.Phe315Leu)
c.3361T>C (p.Phe1121Leu)
c.3265T>C (p.Phe1089Leu)
c.3205T>C (p.Phe1069Leu)
c.3109T>C (p.Phe1037Leu)
6g.43044842A>TCA364207601CUL7,KLC4n.1153T>A
c.3082T>A (p.Phe1028Ile)
n.3643T>A
c.*1379T>A (n.*1379T>A)
n.3365T>A
n.3659T>A
c.1031T>A
n.3921T>A
c.3178T>A (p.Phe1060Ile)
c.1574T>A
c.-553+1334A>T (n.-553+1334A>T)
c.3334T>A (p.Phe1112Ile)
c.3238T>A (p.Phe1080Ile)
c.943T>A (p.Phe315Ile)
c.3361T>A (p.Phe1121Ile)
c.3265T>A (p.Phe1089Ile)
c.3205T>A (p.Phe1069Ile)
c.3109T>A (p.Phe1037Ile)
6g.43044843G>ACA450260250CUL7,KLC4n.1152C>T
c.3081C>T (p.Arg1027=)
n.3642C>T
c.*1378C>T (n.*1378C>T)
n.3364C>T
n.3658C>T
c.1030C>T
n.3920C>T
c.3177C>T (p.Arg1059=)
c.1573C>T
c.-553+1335G>A (n.-553+1335G>A)
c.3333C>T (p.Arg1111=)
c.3237C>T (p.Arg1079=)
c.942C>T (p.Arg314=)
c.3360C>T (p.Arg1120=)
c.3264C>T (p.Arg1088=)
c.3204C>T (p.Arg1068=)
c.3108C>T (p.Arg1036=)
6g.43044843G>CCA450260248CUL7,KLC4n.1152C>G
c.3081C>G (p.Arg1027=)
n.3642C>G
c.*1378C>G (n.*1378C>G)
n.3364C>G
n.3658C>G
c.1030C>G
n.3920C>G
c.3177C>G (p.Arg1059=)
c.1573C>G
c.-553+1335G>C (n.-553+1335G>C)
c.3333C>G (p.Arg1111=)
c.3237C>G (p.Arg1079=)
c.942C>G (p.Arg314=)
c.3360C>G (p.Arg1120=)
c.3264C>G (p.Arg1088=)
c.3204C>G (p.Arg1068=)
c.3108C>G (p.Arg1036=)
6g.43044843G>TCA450260249CUL7,KLC4n.1152C>A
c.3081C>A (p.Arg1027=)
n.3642C>A
c.*1378C>A (n.*1378C>A)
n.3364C>A
n.3658C>A
c.1030C>A
n.3920C>A
c.3177C>A (p.Arg1059=)
c.1573C>A
c.-553+1335G>T (n.-553+1335G>T)
c.3333C>A (p.Arg1111=)
c.3237C>A (p.Arg1079=)
c.942C>A (p.Arg314=)
c.3360C>A (p.Arg1120=)
c.3264C>A (p.Arg1088=)
c.3204C>A (p.Arg1068=)
c.3108C>A (p.Arg1036=)
6g.43044844C>ACA3813589CUL7,KLC4n.1151G>T
c.3080G>T (p.Arg1027Leu)
n.3641G>T
c.*1377G>T (n.*1377G>T)
n.3363G>T
n.3657G>T
c.1029G>T
n.3919G>T
c.3176G>T (p.Arg1059Leu)
c.1572G>T
c.-553+1336C>A (n.-553+1336C>A)
c.3332G>T (p.Arg1111Leu)
c.3236G>T (p.Arg1079Leu)
c.941G>T (p.Arg314Leu)
c.3359G>T (p.Arg1120Leu)
c.3263G>T (p.Arg1088Leu)
c.3203G>T (p.Arg1068Leu)
c.3107G>T (p.Arg1036Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044844C=CA1624355715CUL7,KLC4n.1151G=
c.3080G= (p.Arg1027=)
n.3641G=
c.*1377G= (n.*1377G=)
n.3363G=
n.3657G=
c.1029G=
n.3919G=
c.3176G= (p.Arg1059=)
c.1572G=
c.-553+1336C= (n.-553+1336C=)
c.3332G= (p.Arg1111=)
c.3236G= (p.Arg1079=)
c.941G= (p.Arg314=)
c.3359G= (p.Arg1120=)
c.3263G= (p.Arg1088=)
c.3203G= (p.Arg1068=)
c.3107G= (p.Arg1036=)
6g.43044844C>GCA364207624CUL7,KLC4n.1151G>C
c.3080G>C (p.Arg1027Pro)
n.3641G>C
c.*1377G>C (n.*1377G>C)
n.3363G>C
n.3657G>C
c.1029G>C
n.3919G>C
c.3176G>C (p.Arg1059Pro)
c.1572G>C
c.-553+1336C>G (n.-553+1336C>G)
c.3332G>C (p.Arg1111Pro)
c.3236G>C (p.Arg1079Pro)
c.941G>C (p.Arg314Pro)
c.3359G>C (p.Arg1120Pro)
c.3263G>C (p.Arg1088Pro)
c.3203G>C (p.Arg1068Pro)
c.3107G>C (p.Arg1036Pro)
6g.43044844C>TCA3813588CUL7,KLC4n.1151G>A
c.3080G>A (p.Arg1027His)
n.3641G>A
c.*1377G>A (n.*1377G>A)
n.3363G>A
n.3657G>A
c.1029G>A
n.3919G>A
c.3176G>A (p.Arg1059His)
c.1572G>A
c.-553+1336C>T (n.-553+1336C>T)
c.3332G>A (p.Arg1111His)
c.3236G>A (p.Arg1079His)
c.941G>A (p.Arg314His)
c.3359G>A (p.Arg1120His)
c.3263G>A (p.Arg1088His)
c.3203G>A (p.Arg1068His)
c.3107G>A (p.Arg1036His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044845G>ACA3813590CUL7,KLC4n.1150C>T
c.3079C>T (p.Arg1027Cys)
n.3640C>T
c.*1376C>T (n.*1376C>T)
n.3362C>T
n.3656C>T
c.1028C>T
n.3918C>T
c.3175C>T (p.Arg1059Cys)
c.1571C>T
c.-553+1337G>A (n.-553+1337G>A)
c.3331C>T (p.Arg1111Cys)
c.3235C>T (p.Arg1079Cys)
c.940C>T (p.Arg314Cys)
c.3358C>T (p.Arg1120Cys)
c.3262C>T (p.Arg1088Cys)
c.3202C>T (p.Arg1068Cys)
c.3106C>T (p.Arg1036Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044845G>CCA3813591CUL7,KLC4n.1150C>G
c.3079C>G (p.Arg1027Gly)
n.3640C>G
c.*1376C>G (n.*1376C>G)
n.3362C>G
n.3656C>G
c.1028C>G
n.3918C>G
c.3175C>G (p.Arg1059Gly)
c.1571C>G
c.-553+1337G>C (n.-553+1337G>C)
c.3331C>G (p.Arg1111Gly)
c.3235C>G (p.Arg1079Gly)
c.940C>G (p.Arg314Gly)
c.3358C>G (p.Arg1120Gly)
c.3262C>G (p.Arg1088Gly)
c.3202C>G (p.Arg1068Gly)
c.3106C>G (p.Arg1036Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044845G=CA1624355716CUL7,KLC4n.1150C=
c.3079C= (p.Arg1027=)
n.3640C=
c.*1376C= (n.*1376C=)
n.3362C=
n.3656C=
c.1028C=
n.3918C=
c.3175C= (p.Arg1059=)
c.1571C=
c.-553+1337G= (n.-553+1337G=)
c.3331C= (p.Arg1111=)
c.3235C= (p.Arg1079=)
c.940C= (p.Arg314=)
c.3358C= (p.Arg1120=)
c.3262C= (p.Arg1088=)
c.3202C= (p.Arg1068=)
c.3106C= (p.Arg1036=)
6g.43044845G>TCA364207641CUL7,KLC4n.1150C>A
c.3079C>A (p.Arg1027Ser)
n.3640C>A
c.*1376C>A (n.*1376C>A)
n.3362C>A
n.3656C>A
c.1028C>A
n.3918C>A
c.3175C>A (p.Arg1059Ser)
c.1571C>A
c.-553+1337G>T (n.-553+1337G>T)
c.3331C>A (p.Arg1111Ser)
c.3235C>A (p.Arg1079Ser)
c.940C>A (p.Arg314Ser)
c.3358C>A (p.Arg1120Ser)
c.3262C>A (p.Arg1088Ser)
c.3202C>A (p.Arg1068Ser)
c.3106C>A (p.Arg1036Ser)
6g.43044846G>ACA450260254CUL7,KLC4n.1149C>T
c.3078C>T (p.Asp1026=)
n.3639C>T
c.*1375C>T (n.*1375C>T)
n.3361C>T
n.3655C>T
c.1027C>T
n.3917C>T
c.3174C>T (p.Asp1058=)
c.1570C>T
c.-553+1338G>A (n.-553+1338G>A)
c.3330C>T (p.Asp1110=)
c.3234C>T (p.Asp1078=)
c.939C>T (p.Asp313=)
c.3357C>T (p.Asp1119=)
c.3261C>T (p.Asp1087=)
c.3201C>T (p.Asp1067=)
c.3105C>T (p.Asp1035=)
6g.43044846G>CCA364207648CUL7,KLC4n.1149C>G
c.3078C>G (p.Asp1026Glu)
n.3639C>G
c.*1375C>G (n.*1375C>G)
n.3361C>G
n.3655C>G
c.1027C>G
n.3917C>G
c.3174C>G (p.Asp1058Glu)
c.1570C>G
c.-553+1338G>C (n.-553+1338G>C)
c.3330C>G (p.Asp1110Glu)
c.3234C>G (p.Asp1078Glu)
c.939C>G (p.Asp313Glu)
c.3357C>G (p.Asp1119Glu)
c.3261C>G (p.Asp1087Glu)
c.3201C>G (p.Asp1067Glu)
c.3105C>G (p.Asp1035Glu)
6g.43044846G>TCA364207645CUL7,KLC4n.1149C>A
c.3078C>A (p.Asp1026Glu)
n.3639C>A
c.*1375C>A (n.*1375C>A)
n.3361C>A
n.3655C>A
c.1027C>A
n.3917C>A
c.3174C>A (p.Asp1058Glu)
c.1570C>A
c.-553+1338G>T (n.-553+1338G>T)
c.3330C>A (p.Asp1110Glu)
c.3234C>A (p.Asp1078Glu)
c.939C>A (p.Asp313Glu)
c.3357C>A (p.Asp1119Glu)
c.3261C>A (p.Asp1087Glu)
c.3201C>A (p.Asp1067Glu)
c.3105C>A (p.Asp1035Glu)
6g.43044847T>ACA364207652CUL7,KLC4n.1148A>T
c.3077A>T (p.Asp1026Val)
n.3638A>T
c.*1374A>T (n.*1374A>T)
n.3360A>T
n.3654A>T
c.1026A>T
n.3916A>T
c.3173A>T (p.Asp1058Val)
c.1569A>T
c.-553+1339T>A (n.-553+1339T>A)
c.3329A>T (p.Asp1110Val)
c.3233A>T (p.Asp1078Val)
c.938A>T (p.Asp313Val)
c.3356A>T (p.Asp1119Val)
c.3260A>T (p.Asp1087Val)
c.3200A>T (p.Asp1067Val)
c.3104A>T (p.Asp1035Val)
6g.43044847T>CCA364207664CUL7,KLC4n.1148A>G
c.3077A>G (p.Asp1026Gly)
n.3638A>G
c.*1374A>G (n.*1374A>G)
n.3360A>G
n.3654A>G
c.1026A>G
n.3916A>G
c.3173A>G (p.Asp1058Gly)
c.1569A>G
c.-553+1339T>C (n.-553+1339T>C)
c.3329A>G (p.Asp1110Gly)
c.3233A>G (p.Asp1078Gly)
c.938A>G (p.Asp313Gly)
c.3356A>G (p.Asp1119Gly)
c.3260A>G (p.Asp1087Gly)
c.3200A>G (p.Asp1067Gly)
c.3104A>G (p.Asp1035Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.43044847T>GCA364207667CUL7,KLC4n.1148A>C
c.3077A>C (p.Asp1026Ala)
n.3638A>C
c.*1374A>C (n.*1374A>C)
n.3360A>C
n.3654A>C
c.1026A>C
n.3916A>C
c.3173A>C (p.Asp1058Ala)
c.1569A>C
c.-553+1339T>G (n.-553+1339T>G)
c.3329A>C (p.Asp1110Ala)
c.3233A>C (p.Asp1078Ala)
c.938A>C (p.Asp313Ala)
c.3356A>C (p.Asp1119Ala)
c.3260A>C (p.Asp1087Ala)
c.3200A>C (p.Asp1067Ala)
c.3104A>C (p.Asp1035Ala)
6g.43044847T=CA1624355717CUL7,KLC4n.1148A=
c.3077A= (p.Asp1026=)
n.3638A=
c.*1374A= (n.*1374A=)
n.3360A=
n.3654A=
c.1026A=
n.3916A=
c.3173A= (p.Asp1058=)
c.1569A=
c.-553+1339T= (n.-553+1339T=)
c.3329A= (p.Asp1110=)
c.3233A= (p.Asp1078=)
c.938A= (p.Asp313=)
c.3356A= (p.Asp1119=)
c.3260A= (p.Asp1087=)
c.3200A= (p.Asp1067=)
c.3104A= (p.Asp1035=)
6g.43044848delCA2695206502CUL7,KLC4n.1147del
c.3076del (p.Asp1026ThrfsTer?)
n.3637del
c.*1373del (n.*1373del)
n.3359del
n.3653del
c.1025del
n.3915del
c.3172del (p.Asp1058ThrfsTer?)
c.1568del
c.-553+1340del (n.-553+1340del)
c.3328del (p.Asp1110ThrfsTer?)
c.3232del (p.Asp1078ThrfsTer?)
c.937del (p.Asp313ThrfsTer?)
c.3355del (p.Asp1119ThrfsTer?)
c.3259del (p.Asp1087ThrfsTer?)
c.3199del (p.Asp1067ThrfsTer?)
c.3103del (p.Asp1035ThrfsTer?)
6g.43044848C>ACA364207671CUL7,KLC4n.1147G>T
c.3076G>T (p.Asp1026Tyr)
n.3637G>T
c.*1373G>T (n.*1373G>T)
n.3359G>T
n.3653G>T
c.1025G>T
n.3915G>T
c.3172G>T (p.Asp1058Tyr)
c.1568G>T
c.-553+1340C>A (n.-553+1340C>A)
c.3328G>T (p.Asp1110Tyr)
c.3232G>T (p.Asp1078Tyr)
c.937G>T (p.Asp313Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3199G>T (p.Asp1067Tyr)
c.3103G>T (p.Asp1035Tyr)
6g.43044848C>GCA364207672CUL7,KLC4n.1147G>C
c.3076G>C (p.Asp1026His)
n.3637G>C
c.*1373G>C (n.*1373G>C)
n.3359G>C
n.3653G>C
c.1025G>C
n.3915G>C
c.3172G>C (p.Asp1058His)
c.1568G>C
c.-553+1340C>G (n.-553+1340C>G)
c.3328G>C (p.Asp1110His)
c.3232G>C (p.Asp1078His)
c.937G>C (p.Asp313His)
c.3355G>C (p.Asp1119His)
c.3259G>C (p.Asp1087His)
c.3199G>C (p.Asp1067His)
c.3103G>C (p.Asp1035His)
6g.43044848C>TCA364207673CUL7,KLC4n.1147G>A
c.3076G>A (p.Asp1026Asn)
n.3637G>A
c.*1373G>A (n.*1373G>A)
n.3359G>A
n.3653G>A
c.1025G>A
n.3915G>A
c.3172G>A (p.Asp1058Asn)
c.1568G>A
c.-553+1340C>T (n.-553+1340C>T)
c.3328G>A (p.Asp1110Asn)
c.3232G>A (p.Asp1078Asn)
c.937G>A (p.Asp313Asn)
c.3355G>A (p.Asp1119Asn)
c.3259G>A (p.Asp1087Asn)
c.3199G>A (p.Asp1067Asn)
c.3103G>A (p.Asp1035Asn)
6g.43044849A=CA1624355718CUL7,KLC4n.1146T=
c.3075T= (p.Ala1025=)
n.3636T=
c.*1372T= (n.*1372T=)
n.3358T=
n.3652T=
c.1024T=
n.3914T=
c.3171T= (p.Ala1057=)
c.1567T=
c.-553+1341A= (n.-553+1341A=)
c.3327T= (p.Ala1109=)
c.3231T= (p.Ala1077=)
c.936T= (p.Ala312=)
c.3354T= (p.Ala1118=)
c.3258T= (p.Ala1086=)
c.3198T= (p.Ala1066=)
c.3102T= (p.Ala1034=)
6g.43044849A>CCA450260258CUL7,KLC4n.1146T>G
c.3075T>G (p.Ala1025=)
n.3636T>G
c.*1372T>G (n.*1372T>G)
n.3358T>G
n.3652T>G
c.1024T>G
n.3914T>G
c.3171T>G (p.Ala1057=)
c.1567T>G
c.-553+1341A>C (n.-553+1341A>C)
c.3327T>G (p.Ala1109=)
c.3231T>G (p.Ala1077=)
c.936T>G (p.Ala312=)
c.3354T>G (p.Ala1118=)
c.3258T>G (p.Ala1086=)
c.3198T>G (p.Ala1066=)
c.3102T>G (p.Ala1034=)
6g.43044849A>GCA450260259CUL7,KLC4n.1146T>C
c.3075T>C (p.Ala1025=)
n.3636T>C
c.*1372T>C (n.*1372T>C)
n.3358T>C
n.3652T>C
c.1024T>C
n.3914T>C
c.3171T>C (p.Ala1057=)
c.1567T>C
c.-553+1341A>G (n.-553+1341A>G)
c.3327T>C (p.Ala1109=)
c.3231T>C (p.Ala1077=)
c.936T>C (p.Ala312=)
c.3354T>C (p.Ala1118=)
c.3258T>C (p.Ala1086=)
c.3198T>C (p.Ala1066=)
c.3102T>C (p.Ala1034=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43044849A>TCA450260260CUL7,KLC4n.1146T>A
c.3075T>A (p.Ala1025=)
n.3636T>A
c.*1372T>A (n.*1372T>A)
n.3358T>A
n.3652T>A
c.1024T>A
n.3914T>A
c.3171T>A (p.Ala1057=)
c.1567T>A
c.-553+1341A>T (n.-553+1341A>T)
c.3327T>A (p.Ala1109=)
c.3231T>A (p.Ala1077=)
c.936T>A (p.Ala312=)
c.3354T>A (p.Ala1118=)
c.3258T>A (p.Ala1086=)
c.3198T>A (p.Ala1066=)
c.3102T>A (p.Ala1034=)
6g.43044850G>ACA364207683CUL7,KLC4n.1145C>T
c.3074C>T (p.Ala1025Val)
n.3635C>T
c.*1371C>T (n.*1371C>T)
n.3357C>T
n.3651C>T
c.1023C>T
n.3913C>T
c.3170C>T (p.Ala1057Val)
c.1566C>T
c.-553+1342G>A (n.-553+1342G>A)
c.3326C>T (p.Ala1109Val)
c.3230C>T (p.Ala1077Val)
c.935C>T (p.Ala312Val)
c.3353C>T (p.Ala1118Val)
c.3257C>T (p.Ala1086Val)
c.3197C>T (p.Ala1066Val)
c.3101C>T (p.Ala1034Val)
 gnomAD v4
6g.43044850G>CCA364207680CUL7,KLC4n.1145C>G
c.3074C>G (p.Ala1025Gly)
n.3635C>G
c.*1371C>G (n.*1371C>G)
n.3357C>G
n.3651C>G
c.1023C>G
n.3913C>G
c.3170C>G (p.Ala1057Gly)
c.1566C>G
c.-553+1342G>C (n.-553+1342G>C)
c.3326C>G (p.Ala1109Gly)
c.3230C>G (p.Ala1077Gly)
c.935C>G (p.Ala312Gly)
c.3353C>G (p.Ala1118Gly)
c.3257C>G (p.Ala1086Gly)
c.3197C>G (p.Ala1066Gly)
c.3101C>G (p.Ala1034Gly)
6g.43044850G=CA1624355719CUL7,KLC4n.1145C=
c.3074C= (p.Ala1025=)
n.3635C=
c.*1371C= (n.*1371C=)
n.3357C=
n.3651C=
c.1023C=
n.3913C=
c.3170C= (p.Ala1057=)
c.1566C=
c.-553+1342G= (n.-553+1342G=)
c.3326C= (p.Ala1109=)
c.3230C= (p.Ala1077=)
c.935C= (p.Ala312=)
c.3353C= (p.Ala1118=)
c.3257C= (p.Ala1086=)
c.3197C= (p.Ala1066=)
c.3101C= (p.Ala1034=)
6g.43044850G>TCA3813592CUL7,KLC4n.1145C>A
c.3074C>A (p.Ala1025Asp)
n.3635C>A
c.*1371C>A (n.*1371C>A)
n.3357C>A
n.3651C>A
c.1023C>A
n.3913C>A
c.3170C>A (p.Ala1057Asp)
c.1566C>A
c.-553+1342G>T (n.-553+1342G>T)
c.3326C>A (p.Ala1109Asp)
c.3230C>A (p.Ala1077Asp)
c.935C>A (p.Ala312Asp)
c.3353C>A (p.Ala1118Asp)
c.3257C>A (p.Ala1086Asp)
c.3197C>A (p.Ala1066Asp)
c.3101C>A (p.Ala1034Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044851C>ACA364207687CUL7,KLC4n.1144G>T
c.3073G>T (p.Ala1025Ser)
n.3634G>T
c.*1370G>T (n.*1370G>T)
n.3356G>T
n.3650G>T
c.1022G>T
n.3912G>T
c.3169G>T (p.Ala1057Ser)
c.1565G>T
c.-553+1343C>A (n.-553+1343C>A)
c.3325G>T (p.Ala1109Ser)
c.3229G>T (p.Ala1077Ser)
c.934G>T (p.Ala312Ser)
c.3352G>T (p.Ala1118Ser)
c.3256G>T (p.Ala1086Ser)
c.3196G>T (p.Ala1066Ser)
c.3100G>T (p.Ala1034Ser)
 gnomAD v4
6g.43044851C>GCA364207703CUL7,KLC4n.1144G>C
c.3073G>C (p.Ala1025Pro)
n.3634G>C
c.*1370G>C (n.*1370G>C)
n.3356G>C
n.3650G>C
c.1022G>C
n.3912G>C
c.3169G>C (p.Ala1057Pro)
c.1565G>C
c.-553+1343C>G (n.-553+1343C>G)
c.3325G>C (p.Ala1109Pro)
c.3229G>C (p.Ala1077Pro)
c.934G>C (p.Ala312Pro)
c.3352G>C (p.Ala1118Pro)
c.3256G>C (p.Ala1086Pro)
c.3196G>C (p.Ala1066Pro)
c.3100G>C (p.Ala1034Pro)
6g.43044851C>TCA364207690CUL7,KLC4n.1144G>A
c.3073G>A (p.Ala1025Thr)
n.3634G>A
c.*1370G>A (n.*1370G>A)
n.3356G>A
n.3650G>A
c.1022G>A
n.3912G>A
c.3169G>A (p.Ala1057Thr)
c.1565G>A
c.-553+1343C>T (n.-553+1343C>T)
c.3325G>A (p.Ala1109Thr)
c.3229G>A (p.Ala1077Thr)
c.934G>A (p.Ala312Thr)
c.3352G>A (p.Ala1118Thr)
c.3256G>A (p.Ala1086Thr)
c.3196G>A (p.Ala1066Thr)
c.3100G>A (p.Ala1034Thr)
6g.43044852A=CA1624355720CUL7,KLC4n.1143T=
c.3072T= (p.Phe1024=)
n.3633T=
c.*1369T= (n.*1369T=)
n.3355T=
n.3649T=
c.1021T=
n.3911T=
c.3168T= (p.Phe1056=)
c.1564T=
c.-553+1344A= (n.-553+1344A=)
c.3324T= (p.Phe1108=)
c.3228T= (p.Phe1076=)
c.933T= (p.Phe311=)
c.3351T= (p.Phe1117=)
c.3255T= (p.Phe1085=)
c.3195T= (p.Phe1065=)
c.3099T= (p.Phe1033=)
6g.43044852A>CCA364207708CUL7,KLC4n.1143T>G
c.3072T>G (p.Phe1024Leu)
n.3633T>G
c.*1369T>G (n.*1369T>G)
n.3355T>G
n.3649T>G
c.1021T>G
n.3911T>G
c.3168T>G (p.Phe1056Leu)
c.1564T>G
c.-553+1344A>C (n.-553+1344A>C)
c.3324T>G (p.Phe1108Leu)
c.3228T>G (p.Phe1076Leu)
c.933T>G (p.Phe311Leu)
c.3351T>G (p.Phe1117Leu)
c.3255T>G (p.Phe1085Leu)
c.3195T>G (p.Phe1065Leu)
c.3099T>G (p.Phe1033Leu)
6g.43044852A>GCA450260262CUL7,KLC4n.1143T>C
c.3072T>C (p.Phe1024=)
n.3633T>C
c.*1369T>C (n.*1369T>C)
n.3355T>C
n.3649T>C
c.1021T>C
n.3911T>C
c.3168T>C (p.Phe1056=)
c.1564T>C
c.-553+1344A>G (n.-553+1344A>G)
c.3324T>C (p.Phe1108=)
c.3228T>C (p.Phe1076=)
c.933T>C (p.Phe311=)
c.3351T>C (p.Phe1117=)
c.3255T>C (p.Phe1085=)
c.3195T>C (p.Phe1065=)
c.3099T>C (p.Phe1033=)
 dbSNP
6g.43044852A>TCA364207711CUL7,KLC4n.1143T>A
c.3072T>A (p.Phe1024Leu)
n.3633T>A
c.*1369T>A (n.*1369T>A)
n.3355T>A
n.3649T>A
c.1021T>A
n.3911T>A
c.3168T>A (p.Phe1056Leu)
c.1564T>A
c.-553+1344A>T (n.-553+1344A>T)
c.3324T>A (p.Phe1108Leu)
c.3228T>A (p.Phe1076Leu)
c.933T>A (p.Phe311Leu)
c.3351T>A (p.Phe1117Leu)
c.3255T>A (p.Phe1085Leu)
c.3195T>A (p.Phe1065Leu)
c.3099T>A (p.Phe1033Leu)
6g.43044853A>CCA364207715CUL7,KLC4n.1142T>G
c.3071T>G (p.Phe1024Cys)
n.3632T>G
c.*1368T>G (n.*1368T>G)
n.3354T>G
n.3648T>G
c.1020T>G
n.3910T>G
c.3167T>G (p.Phe1056Cys)
c.1563T>G
c.-553+1345A>C (n.-553+1345A>C)
c.3323T>G (p.Phe1108Cys)
c.3227T>G (p.Phe1076Cys)
c.932T>G (p.Phe311Cys)
c.3350T>G (p.Phe1117Cys)
c.3254T>G (p.Phe1085Cys)
c.3194T>G (p.Phe1065Cys)
c.3098T>G (p.Phe1033Cys)
6g.43044853A>GCA364207722CUL7,KLC4n.1142T>C
c.3071T>C (p.Phe1024Ser)
n.3632T>C
c.*1368T>C (n.*1368T>C)
n.3354T>C
n.3648T>C
c.1020T>C
n.3910T>C
c.3167T>C (p.Phe1056Ser)
c.1563T>C
c.-553+1345A>G (n.-553+1345A>G)
c.3323T>C (p.Phe1108Ser)
c.3227T>C (p.Phe1076Ser)
c.932T>C (p.Phe311Ser)
c.3350T>C (p.Phe1117Ser)
c.3254T>C (p.Phe1085Ser)
c.3194T>C (p.Phe1065Ser)
c.3098T>C (p.Phe1033Ser)
6g.43044853A>TCA364207720CUL7,KLC4n.1142T>A
c.3071T>A (p.Phe1024Tyr)
n.3632T>A
c.*1368T>A (n.*1368T>A)
n.3354T>A
n.3648T>A
c.1020T>A
n.3910T>A
c.3167T>A (p.Phe1056Tyr)
c.1563T>A
c.-553+1345A>T (n.-553+1345A>T)
c.3323T>A (p.Phe1108Tyr)
c.3227T>A (p.Phe1076Tyr)
c.932T>A (p.Phe311Tyr)
c.3350T>A (p.Phe1117Tyr)
c.3254T>A (p.Phe1085Tyr)
c.3194T>A (p.Phe1065Tyr)
c.3098T>A (p.Phe1033Tyr)
6g.43044854A>CCA364207726CUL7,KLC4n.1141T>G
c.3070T>G (p.Phe1024Val)
n.3631T>G
c.*1367T>G (n.*1367T>G)
n.3353T>G
n.3647T>G
c.1019T>G
n.3909T>G
c.3166T>G (p.Phe1056Val)
c.1562T>G
c.-553+1346A>C (n.-553+1346A>C)
c.3322T>G (p.Phe1108Val)
c.3226T>G (p.Phe1076Val)
c.931T>G (p.Phe311Val)
c.3349T>G (p.Phe1117Val)
c.3253T>G (p.Phe1085Val)
c.3193T>G (p.Phe1065Val)
c.3097T>G (p.Phe1033Val)
6g.43044854A>GCA364207733CUL7,KLC4n.1141T>C
c.3070T>C (p.Phe1024Leu)
n.3631T>C
c.*1367T>C (n.*1367T>C)
n.3353T>C
n.3647T>C
c.1019T>C
n.3909T>C
c.3166T>C (p.Phe1056Leu)
c.1562T>C
c.-553+1346A>G (n.-553+1346A>G)
c.3322T>C (p.Phe1108Leu)
c.3226T>C (p.Phe1076Leu)
c.931T>C (p.Phe311Leu)
c.3349T>C (p.Phe1117Leu)
c.3253T>C (p.Phe1085Leu)
c.3193T>C (p.Phe1065Leu)
c.3097T>C (p.Phe1033Leu)
6g.43044854A>TCA364207730CUL7,KLC4n.1141T>A
c.3070T>A (p.Phe1024Ile)
n.3631T>A
c.*1367T>A (n.*1367T>A)
n.3353T>A
n.3647T>A
c.1019T>A
n.3909T>A
c.3166T>A (p.Phe1056Ile)
c.1562T>A
c.-553+1346A>T (n.-553+1346A>T)
c.3322T>A (p.Phe1108Ile)
c.3226T>A (p.Phe1076Ile)
c.931T>A (p.Phe311Ile)
c.3349T>A (p.Phe1117Ile)
c.3253T>A (p.Phe1085Ile)
c.3193T>A (p.Phe1065Ile)
c.3097T>A (p.Phe1033Ile)
6g.43044855A>CCA364207736CUL7,KLC4n.1140T>G
c.3069T>G (p.Asn1023Lys)
n.3630T>G
c.*1366T>G (n.*1366T>G)
n.3352T>G
n.3646T>G
c.1018T>G
n.3908T>G
c.3165T>G (p.Asn1055Lys)
c.1561T>G
c.-553+1347A>C (n.-553+1347A>C)
c.3321T>G (p.Asn1107Lys)
c.3225T>G (p.Asn1075Lys)
c.930T>G (p.Asn310Lys)
c.3348T>G (p.Asn1116Lys)
c.3252T>G (p.Asn1084Lys)
c.3192T>G (p.Asn1064Lys)
c.3096T>G (p.Asn1032Lys)
6g.43044855A>GCA450260266CUL7,KLC4n.1140T>C
c.3069T>C (p.Asn1023=)
n.3630T>C
c.*1366T>C (n.*1366T>C)
n.3352T>C
n.3646T>C
c.1018T>C
n.3908T>C
c.3165T>C (p.Asn1055=)
c.1561T>C
c.-553+1347A>G (n.-553+1347A>G)
c.3321T>C (p.Asn1107=)
c.3225T>C (p.Asn1075=)
c.930T>C (p.Asn310=)
c.3348T>C (p.Asn1116=)
c.3252T>C (p.Asn1084=)
c.3192T>C (p.Asn1064=)
c.3096T>C (p.Asn1032=)
6g.43044855A>TCA364207739CUL7,KLC4n.1140T>A
c.3069T>A (p.Asn1023Lys)
n.3630T>A
c.*1366T>A (n.*1366T>A)
n.3352T>A
n.3646T>A
c.1018T>A
n.3908T>A
c.3165T>A (p.Asn1055Lys)
c.1561T>A
c.-553+1347A>T (n.-553+1347A>T)
c.3321T>A (p.Asn1107Lys)
c.3225T>A (p.Asn1075Lys)
c.930T>A (p.Asn310Lys)
c.3348T>A (p.Asn1116Lys)
c.3252T>A (p.Asn1084Lys)
c.3192T>A (p.Asn1064Lys)
c.3096T>A (p.Asn1032Lys)
6g.43044856T>ACA364207740CUL7,KLC4n.1139A>T
c.3068A>T (p.Asn1023Ile)
n.3629A>T
c.*1365A>T (n.*1365A>T)
n.3351A>T
n.3645A>T
c.1017A>T
n.3907A>T
c.3164A>T (p.Asn1055Ile)
c.1560A>T
c.-553+1348T>A (n.-553+1348T>A)
c.3320A>T (p.Asn1107Ile)
c.3224A>T (p.Asn1075Ile)
c.929A>T (p.Asn310Ile)
c.3347A>T (p.Asn1116Ile)
c.3251A>T (p.Asn1084Ile)
c.3191A>T (p.Asn1064Ile)
c.3095A>T (p.Asn1032Ile)
6g.43044856T>CCA364207741CUL7,KLC4n.1139A>G
c.3068A>G (p.Asn1023Ser)
n.3629A>G
c.*1365A>G (n.*1365A>G)
n.3351A>G
n.3645A>G
c.1017A>G
n.3907A>G
c.3164A>G (p.Asn1055Ser)
c.1560A>G
c.-553+1348T>C (n.-553+1348T>C)
c.3320A>G (p.Asn1107Ser)
c.3224A>G (p.Asn1075Ser)
c.929A>G (p.Asn310Ser)
c.3347A>G (p.Asn1116Ser)
c.3251A>G (p.Asn1084Ser)
c.3191A>G (p.Asn1064Ser)
c.3095A>G (p.Asn1032Ser)
6g.43044856T>GCA364207742CUL7,KLC4n.1139A>C
c.3068A>C (p.Asn1023Thr)
n.3629A>C
c.*1365A>C (n.*1365A>C)
n.3351A>C
n.3645A>C
c.1017A>C
n.3907A>C
c.3164A>C (p.Asn1055Thr)
c.1560A>C
c.-553+1348T>G (n.-553+1348T>G)
c.3320A>C (p.Asn1107Thr)
c.3224A>C (p.Asn1075Thr)
c.929A>C (p.Asn310Thr)
c.3347A>C (p.Asn1116Thr)
c.3251A>C (p.Asn1084Thr)
c.3191A>C (p.Asn1064Thr)
c.3095A>C (p.Asn1032Thr)
6g.43044857T>ACA364207745CUL7,KLC4n.1138A>T
c.3067A>T (p.Asn1023Tyr)
n.3628A>T
c.*1364A>T (n.*1364A>T)
n.3350A>T
n.3644A>T
c.1016A>T
n.3906A>T
c.3163A>T (p.Asn1055Tyr)
c.1559A>T
c.-553+1349T>A (n.-553+1349T>A)
c.3319A>T (p.Asn1107Tyr)
c.3223A>T (p.Asn1075Tyr)
c.928A>T (p.Asn310Tyr)
c.3346A>T (p.Asn1116Tyr)
c.3250A>T (p.Asn1084Tyr)
c.3190A>T (p.Asn1064Tyr)
c.3094A>T (p.Asn1032Tyr)
6g.43044857T>CCA364207750CUL7,KLC4n.1138A>G
c.3067A>G (p.Asn1023Asp)
n.3628A>G
c.*1364A>G (n.*1364A>G)
n.3350A>G
n.3644A>G
c.1016A>G
n.3906A>G
c.3163A>G (p.Asn1055Asp)
c.1559A>G
c.-553+1349T>C (n.-553+1349T>C)
c.3319A>G (p.Asn1107Asp)
c.3223A>G (p.Asn1075Asp)
c.928A>G (p.Asn310Asp)
c.3346A>G (p.Asn1116Asp)
c.3250A>G (p.Asn1084Asp)
c.3190A>G (p.Asn1064Asp)
c.3094A>G (p.Asn1032Asp)
6g.43044857T>GCA364207753CUL7,KLC4n.1138A>C
c.3067A>C (p.Asn1023His)
n.3628A>C
c.*1364A>C (n.*1364A>C)
n.3350A>C
n.3644A>C
c.1016A>C
n.3906A>C
c.3163A>C (p.Asn1055His)
c.1559A>C
c.-553+1349T>G (n.-553+1349T>G)
c.3319A>C (p.Asn1107His)
c.3223A>C (p.Asn1075His)
c.928A>C (p.Asn310His)
c.3346A>C (p.Asn1116His)
c.3250A>C (p.Asn1084His)
c.3190A>C (p.Asn1064His)
c.3094A>C (p.Asn1032His)
6g.43044858C>ACA364207756CUL7,KLC4n.1137G>T
c.3066G>T (p.Gln1022His)
n.3627G>T
c.*1363G>T (n.*1363G>T)
n.3349G>T
n.3643G>T
c.1015G>T
n.3905G>T
c.3162G>T (p.Gln1054His)
c.1558G>T
c.-553+1350C>A (n.-553+1350C>A)
c.3318G>T (p.Gln1106His)
c.3222G>T (p.Gln1074His)
c.927G>T (p.Gln309His)
c.3345G>T (p.Gln1115His)
c.3249G>T (p.Gln1083His)
c.3189G>T (p.Gln1063His)
c.3093G>T (p.Gln1031His)
6g.43044858C>GCA364207757CUL7,KLC4n.1137G>C
c.3066G>C (p.Gln1022His)
n.3627G>C
c.*1363G>C (n.*1363G>C)
n.3349G>C
n.3643G>C
c.1015G>C
n.3905G>C
c.3162G>C (p.Gln1054His)
c.1558G>C
c.-553+1350C>G (n.-553+1350C>G)
c.3318G>C (p.Gln1106His)
c.3222G>C (p.Gln1074His)
c.927G>C (p.Gln309His)
c.3345G>C (p.Gln1115His)
c.3249G>C (p.Gln1083His)
c.3189G>C (p.Gln1063His)
c.3093G>C (p.Gln1031His)
6g.43044858C>TCA450260269CUL7,KLC4n.1137G>A
c.3066G>A (p.Gln1022=)
n.3627G>A
c.*1363G>A (n.*1363G>A)
n.3349G>A
n.3643G>A
c.1015G>A
n.3905G>A
c.3162G>A (p.Gln1054=)
c.1558G>A
c.-553+1350C>T (n.-553+1350C>T)
c.3318G>A (p.Gln1106=)
c.3222G>A (p.Gln1074=)
c.927G>A (p.Gln309=)
c.3345G>A (p.Gln1115=)
c.3249G>A (p.Gln1083=)
c.3189G>A (p.Gln1063=)
c.3093G>A (p.Gln1031=)
6g.43044859T>ACA364207762CUL7,KLC4n.1136A>T
c.3065A>T (p.Gln1022Leu)
n.3626A>T
c.*1362A>T (n.*1362A>T)
n.3348A>T
n.3642A>T
c.1014A>T
n.3904A>T
c.3161A>T (p.Gln1054Leu)
c.1557A>T
c.-553+1351T>A (n.-553+1351T>A)
c.3317A>T (p.Gln1106Leu)
c.3221A>T (p.Gln1074Leu)
c.926A>T (p.Gln309Leu)
c.3344A>T (p.Gln1115Leu)
c.3248A>T (p.Gln1083Leu)
c.3188A>T (p.Gln1063Leu)
c.3092A>T (p.Gln1031Leu)
6g.43044859T>CCA364207761CUL7,KLC4n.1136A>G
c.3065A>G (p.Gln1022Arg)
n.3626A>G
c.*1362A>G (n.*1362A>G)
n.3348A>G
n.3642A>G
c.1014A>G
n.3904A>G
c.3161A>G (p.Gln1054Arg)
c.1557A>G
c.-553+1351T>C (n.-553+1351T>C)
c.3317A>G (p.Gln1106Arg)
c.3221A>G (p.Gln1074Arg)
c.926A>G (p.Gln309Arg)
c.3344A>G (p.Gln1115Arg)
c.3248A>G (p.Gln1083Arg)
c.3188A>G (p.Gln1063Arg)
c.3092A>G (p.Gln1031Arg)
 gnomAD v4
6g.43044859T>GCA364207758CUL7,KLC4n.1136A>C
c.3065A>C (p.Gln1022Pro)
n.3626A>C
c.*1362A>C (n.*1362A>C)
n.3348A>C
n.3642A>C
c.1014A>C
n.3904A>C
c.3161A>C (p.Gln1054Pro)
c.1557A>C
c.-553+1351T>G (n.-553+1351T>G)
c.3317A>C (p.Gln1106Pro)
c.3221A>C (p.Gln1074Pro)
c.926A>C (p.Gln309Pro)
c.3344A>C (p.Gln1115Pro)
c.3248A>C (p.Gln1083Pro)
c.3188A>C (p.Gln1063Pro)
c.3092A>C (p.Gln1031Pro)
6g.43044860G>ACA364207768CUL7,KLC4n.1135C>T
c.3064C>T (p.Gln1022Ter)
n.3625C>T
c.*1361C>T (n.*1361C>T)
n.3347C>T
n.3641C>T
c.1013C>T
n.3903C>T
c.3160C>T (p.Gln1054Ter)
c.1556C>T
c.-553+1352G>A (n.-553+1352G>A)
c.3316C>T (p.Gln1106Ter)
c.3220C>T (p.Gln1074Ter)
c.925C>T (p.Gln309Ter)
c.3343C>T (p.Gln1115Ter)
c.3247C>T (p.Gln1083Ter)
c.3187C>T (p.Gln1063Ter)
c.3091C>T (p.Gln1031Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43044860G>CCA364207770CUL7,KLC4n.1135C>G
c.3064C>G (p.Gln1022Glu)
n.3625C>G
c.*1361C>G (n.*1361C>G)
n.3347C>G
n.3641C>G
c.1013C>G
n.3903C>G
c.3160C>G (p.Gln1054Glu)
c.1556C>G
c.-553+1352G>C (n.-553+1352G>C)
c.3316C>G (p.Gln1106Glu)
c.3220C>G (p.Gln1074Glu)
c.925C>G (p.Gln309Glu)
c.3343C>G (p.Gln1115Glu)
c.3247C>G (p.Gln1083Glu)
c.3187C>G (p.Gln1063Glu)
c.3091C>G (p.Gln1031Glu)
6g.43044860G=CA1624355721CUL7,KLC4n.1135C=
c.3064C= (p.Gln1022=)
n.3625C=
c.*1361C= (n.*1361C=)
n.3347C=
n.3641C=
c.1013C=
n.3903C=
c.3160C= (p.Gln1054=)
c.1556C=
c.-553+1352G= (n.-553+1352G=)
c.3316C= (p.Gln1106=)
c.3220C= (p.Gln1074=)
c.925C= (p.Gln309=)
c.3343C= (p.Gln1115=)
c.3247C= (p.Gln1083=)
c.3187C= (p.Gln1063=)
c.3091C= (p.Gln1031=)
6g.43044860G>TCA364207778CUL7,KLC4n.1135C>A
c.3064C>A (p.Gln1022Lys)
n.3625C>A
c.*1361C>A (n.*1361C>A)
n.3347C>A
n.3641C>A
c.1013C>A
n.3903C>A
c.3160C>A (p.Gln1054Lys)
c.1556C>A
c.-553+1352G>T (n.-553+1352G>T)
c.3316C>A (p.Gln1106Lys)
c.3220C>A (p.Gln1074Lys)
c.925C>A (p.Gln309Lys)
c.3343C>A (p.Gln1115Lys)
c.3247C>A (p.Gln1083Lys)
c.3187C>A (p.Gln1063Lys)
c.3091C>A (p.Gln1031Lys)
6g.43044861C>ACA364207786CUL7,KLC4n.1134G>T
c.3063G>T (p.Glu1021Asp)
n.3624G>T
c.*1360G>T (n.*1360G>T)
n.3346G>T
n.3640G>T
c.1012G>T
n.3902G>T
c.3159G>T (p.Glu1053Asp)
c.1555G>T
c.-553+1353C>A (n.-553+1353C>A)
c.3315G>T (p.Glu1105Asp)
c.3219G>T (p.Glu1073Asp)
c.924G>T (p.Glu308Asp)
c.3342G>T (p.Glu1114Asp)
c.3246G>T (p.Glu1082Asp)
c.3186G>T (p.Glu1062Asp)
c.3090G>T (p.Glu1030Asp)
 gnomAD v4
6g.43044861C=CA1624355722CUL7,KLC4n.1134G=
c.3063G= (p.Glu1021=)
n.3624G=
c.*1360G= (n.*1360G=)
n.3346G=
n.3640G=
c.1012G=
n.3902G=
c.3159G= (p.Glu1053=)
c.1555G=
c.-553+1353C= (n.-553+1353C=)
c.3315G= (p.Glu1105=)
c.3219G= (p.Glu1073=)
c.924G= (p.Glu308=)
c.3342G= (p.Glu1114=)
c.3246G= (p.Glu1082=)
c.3186G= (p.Glu1062=)
c.3090G= (p.Glu1030=)
6g.43044861C>GCA364207794CUL7,KLC4n.1134G>C
c.3063G>C (p.Glu1021Asp)
n.3624G>C
c.*1360G>C (n.*1360G>C)
n.3346G>C
n.3640G>C
c.1012G>C
n.3902G>C
c.3159G>C (p.Glu1053Asp)
c.1555G>C
c.-553+1353C>G (n.-553+1353C>G)
c.3315G>C (p.Glu1105Asp)
c.3219G>C (p.Glu1073Asp)
c.924G>C (p.Glu308Asp)
c.3342G>C (p.Glu1114Asp)
c.3246G>C (p.Glu1082Asp)
c.3186G>C (p.Glu1062Asp)
c.3090G>C (p.Glu1030Asp)
 gnomAD v4
6g.43044861C>TCA450260273CUL7,KLC4n.1134G>A
c.3063G>A (p.Glu1021=)
n.3624G>A
c.*1360G>A (n.*1360G>A)
n.3346G>A
n.3640G>A
c.1012G>A
n.3902G>A
c.3159G>A (p.Glu1053=)
c.1555G>A
c.-553+1353C>T (n.-553+1353C>T)
c.3315G>A (p.Glu1105=)
c.3219G>A (p.Glu1073=)
c.924G>A (p.Glu308=)
c.3342G>A (p.Glu1114=)
c.3246G>A (p.Glu1082=)
c.3186G>A (p.Glu1062=)
c.3090G>A (p.Glu1030=)
 dbSNP
6g.43044862T>ACA364207797CUL7,KLC4n.1133A>T
c.3062A>T (p.Glu1021Val)
n.3623A>T
c.*1359A>T (n.*1359A>T)
n.3345A>T
n.3639A>T
c.1011A>T
n.3901A>T
c.3158A>T (p.Glu1053Val)
c.1554A>T
c.-553+1354T>A (n.-553+1354T>A)
c.3314A>T (p.Glu1105Val)
c.3218A>T (p.Glu1073Val)
c.923A>T (p.Glu308Val)
c.3341A>T (p.Glu1114Val)
c.3245A>T (p.Glu1082Val)
c.3185A>T (p.Glu1062Val)
c.3089A>T (p.Glu1030Val)
6g.43044862T>CCA364207799CUL7,KLC4n.1133A>G
c.3062A>G (p.Glu1021Gly)
n.3623A>G
c.*1359A>G (n.*1359A>G)
n.3345A>G
n.3639A>G
c.1011A>G
n.3901A>G
c.3158A>G (p.Glu1053Gly)
c.1554A>G
c.-553+1354T>C (n.-553+1354T>C)
c.3314A>G (p.Glu1105Gly)
c.3218A>G (p.Glu1073Gly)
c.923A>G (p.Glu308Gly)
c.3341A>G (p.Glu1114Gly)
c.3245A>G (p.Glu1082Gly)
c.3185A>G (p.Glu1062Gly)
c.3089A>G (p.Glu1030Gly)
6g.43044862T>GCA364207802CUL7,KLC4n.1133A>C
c.3062A>C (p.Glu1021Ala)
n.3623A>C
c.*1359A>C (n.*1359A>C)
n.3345A>C
n.3639A>C
c.1011A>C
n.3901A>C
c.3158A>C (p.Glu1053Ala)
c.1554A>C
c.-553+1354T>G (n.-553+1354T>G)
c.3314A>C (p.Glu1105Ala)
c.3218A>C (p.Glu1073Ala)
c.923A>C (p.Glu308Ala)
c.3341A>C (p.Glu1114Ala)
c.3245A>C (p.Glu1082Ala)
c.3185A>C (p.Glu1062Ala)
c.3089A>C (p.Glu1030Ala)
6g.43044863C>ACA364207805CUL7,KLC4n.1132G>T
c.3061G>T (p.Glu1021Ter)
n.3622G>T
c.*1358G>T (n.*1358G>T)
n.3344G>T
n.3638G>T
c.1010G>T
n.3900G>T
c.3157G>T (p.Glu1053Ter)
c.1553G>T
c.-553+1355C>A (n.-553+1355C>A)
c.3313G>T (p.Glu1105Ter)
c.3217G>T (p.Glu1073Ter)
c.922G>T (p.Glu308Ter)
c.3340G>T (p.Glu1114Ter)
c.3244G>T (p.Glu1082Ter)
c.3184G>T (p.Glu1062Ter)
c.3088G>T (p.Glu1030Ter)
6g.43044863C>GCA364207814CUL7,KLC4n.1132G>C
c.3061G>C (p.Glu1021Gln)
n.3622G>C
c.*1358G>C (n.*1358G>C)
n.3344G>C
n.3638G>C
c.1010G>C
n.3900G>C
c.3157G>C (p.Glu1053Gln)
c.1553G>C
c.-553+1355C>G (n.-553+1355C>G)
c.3313G>C (p.Glu1105Gln)
c.3217G>C (p.Glu1073Gln)
c.922G>C (p.Glu308Gln)
c.3340G>C (p.Glu1114Gln)
c.3244G>C (p.Glu1082Gln)
c.3184G>C (p.Glu1062Gln)
c.3088G>C (p.Glu1030Gln)
6g.43044863C>TCA364207817CUL7,KLC4n.1132G>A
c.3061G>A (p.Glu1021Lys)
n.3622G>A
c.*1358G>A (n.*1358G>A)
n.3344G>A
n.3638G>A
c.1010G>A
n.3900G>A
c.3157G>A (p.Glu1053Lys)
c.1553G>A
c.-553+1355C>T (n.-553+1355C>T)
c.3313G>A (p.Glu1105Lys)
c.3217G>A (p.Glu1073Lys)
c.922G>A (p.Glu308Lys)
c.3340G>A (p.Glu1114Lys)
c.3244G>A (p.Glu1082Lys)
c.3184G>A (p.Glu1062Lys)
c.3088G>A (p.Glu1030Lys)
 ClinVar dbSNP
6g.43044864C>ACA3813593CUL7,KLC4n.1131G>T
c.3060G>T (p.Gln1020His)
n.3621G>T
c.*1357G>T (n.*1357G>T)
n.3343G>T
n.3637G>T
c.1009G>T
n.3899G>T
c.3156G>T (p.Gln1052His)
c.1552G>T
c.-553+1356C>A (n.-553+1356C>A)
c.3312G>T (p.Gln1104His)
c.3216G>T (p.Gln1072His)
c.921G>T (p.Gln307His)
c.3339G>T (p.Gln1113His)
c.3243G>T (p.Gln1081His)
c.3183G>T (p.Gln1061His)
c.3087G>T (p.Gln1029His)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044864C=CA1624355723CUL7,KLC4n.1131G=
c.3060G= (p.Gln1020=)
n.3621G=
c.*1357G= (n.*1357G=)
n.3343G=
n.3637G=
c.1009G=
n.3899G=
c.3156G= (p.Gln1052=)
c.1552G=
c.-553+1356C= (n.-553+1356C=)
c.3312G= (p.Gln1104=)
c.3216G= (p.Gln1072=)
c.921G= (p.Gln307=)
c.3339G= (p.Gln1113=)
c.3243G= (p.Gln1081=)
c.3183G= (p.Gln1061=)
c.3087G= (p.Gln1029=)
6g.43044864C>GCA364207829CUL7,KLC4n.1131G>C
c.3060G>C (p.Gln1020His)
n.3621G>C
c.*1357G>C (n.*1357G>C)
n.3343G>C
n.3637G>C
c.1009G>C
n.3899G>C
c.3156G>C (p.Gln1052His)
c.1552G>C
c.-553+1356C>G (n.-553+1356C>G)
c.3312G>C (p.Gln1104His)
c.3216G>C (p.Gln1072His)
c.921G>C (p.Gln307His)
c.3339G>C (p.Gln1113His)
c.3243G>C (p.Gln1081His)
c.3183G>C (p.Gln1061His)
c.3087G>C (p.Gln1029His)
6g.43044864C>TCA450260274CUL7,KLC4n.1131G>A
c.3060G>A (p.Gln1020=)
n.3621G>A
c.*1357G>A (n.*1357G>A)
n.3343G>A
n.3637G>A
c.1009G>A
n.3899G>A
c.3156G>A (p.Gln1052=)
c.1552G>A
c.-553+1356C>T (n.-553+1356C>T)
c.3312G>A (p.Gln1104=)
c.3216G>A (p.Gln1072=)
c.921G>A (p.Gln307=)
c.3339G>A (p.Gln1113=)
c.3243G>A (p.Gln1081=)
c.3183G>A (p.Gln1061=)
c.3087G>A (p.Gln1029=)
6g.43044865T>ACA364207834CUL7,KLC4n.1130A>T
c.3059A>T (p.Gln1020Leu)
n.3620A>T
c.*1356A>T (n.*1356A>T)
n.3342A>T
n.3636A>T
c.1008A>T
n.3898A>T
c.3155A>T (p.Gln1052Leu)
c.1551A>T
c.-553+1357T>A (n.-553+1357T>A)
c.3311A>T (p.Gln1104Leu)
c.3215A>T (p.Gln1072Leu)
c.920A>T (p.Gln307Leu)
c.3338A>T (p.Gln1113Leu)
c.3242A>T (p.Gln1081Leu)
c.3182A>T (p.Gln1061Leu)
c.3086A>T (p.Gln1029Leu)
6g.43044865T>CCA364207838CUL7,KLC4n.1130A>G
c.3059A>G (p.Gln1020Arg)
n.3620A>G
c.*1356A>G (n.*1356A>G)
n.3342A>G
n.3636A>G
c.1008A>G
n.3898A>G
c.3155A>G (p.Gln1052Arg)
c.1551A>G
c.-553+1357T>C (n.-553+1357T>C)
c.3311A>G (p.Gln1104Arg)
c.3215A>G (p.Gln1072Arg)
c.920A>G (p.Gln307Arg)
c.3338A>G (p.Gln1113Arg)
c.3242A>G (p.Gln1081Arg)
c.3182A>G (p.Gln1061Arg)
c.3086A>G (p.Gln1029Arg)
6g.43044865T>GCA364207839CUL7,KLC4n.1130A>C
c.3059A>C (p.Gln1020Pro)
n.3620A>C
c.*1356A>C (n.*1356A>C)
n.3342A>C
n.3636A>C
c.1008A>C
n.3898A>C
c.3155A>C (p.Gln1052Pro)
c.1551A>C
c.-553+1357T>G (n.-553+1357T>G)
c.3311A>C (p.Gln1104Pro)
c.3215A>C (p.Gln1072Pro)
c.920A>C (p.Gln307Pro)
c.3338A>C (p.Gln1113Pro)
c.3242A>C (p.Gln1081Pro)
c.3182A>C (p.Gln1061Pro)
c.3086A>C (p.Gln1029Pro)
6g.43044866G>ACA364207842CUL7,KLC4n.1129C>T
c.3058C>T (p.Gln1020Ter)
n.3619C>T
c.*1355C>T (n.*1355C>T)
n.3341C>T
n.3635C>T
c.1007C>T
n.3897C>T
c.3154C>T (p.Gln1052Ter)
c.1550C>T
c.-553+1358G>A (n.-553+1358G>A)
c.3310C>T (p.Gln1104Ter)
c.3214C>T (p.Gln1072Ter)
c.919C>T (p.Gln307Ter)
c.3337C>T (p.Gln1113Ter)
c.3241C>T (p.Gln1081Ter)
c.3181C>T (p.Gln1061Ter)
c.3085C>T (p.Gln1029Ter)
6g.43044866G>CCA364207844CUL7,KLC4n.1129C>G
c.3058C>G (p.Gln1020Glu)
n.3619C>G
c.*1355C>G (n.*1355C>G)
n.3341C>G
n.3635C>G
c.1007C>G
n.3897C>G
c.3154C>G (p.Gln1052Glu)
c.1550C>G
c.-553+1358G>C (n.-553+1358G>C)
c.3310C>G (p.Gln1104Glu)
c.3214C>G (p.Gln1072Glu)
c.919C>G (p.Gln307Glu)
c.3337C>G (p.Gln1113Glu)
c.3241C>G (p.Gln1081Glu)
c.3181C>G (p.Gln1061Glu)
c.3085C>G (p.Gln1029Glu)
6g.43044866G>TCA364207847CUL7,KLC4n.1129C>A
c.3058C>A (p.Gln1020Lys)
n.3619C>A
c.*1355C>A (n.*1355C>A)
n.3341C>A
n.3635C>A
c.1007C>A
n.3897C>A
c.3154C>A (p.Gln1052Lys)
c.1550C>A
c.-553+1358G>T (n.-553+1358G>T)
c.3310C>A (p.Gln1104Lys)
c.3214C>A (p.Gln1072Lys)
c.919C>A (p.Gln307Lys)
c.3337C>A (p.Gln1113Lys)
c.3241C>A (p.Gln1081Lys)
c.3181C>A (p.Gln1061Lys)
c.3085C>A (p.Gln1029Lys)
6g.43044867G>ACA450260277CUL7,KLC4n.1128C>T
c.3057C>T (p.Arg1019=)
n.3618C>T
c.*1354C>T (n.*1354C>T)
n.3340C>T
n.3634C>T
c.1006C>T
n.3896C>T
c.3153C>T (p.Arg1051=)
c.1549C>T
c.-553+1359G>A (n.-553+1359G>A)
c.3309C>T (p.Arg1103=)
c.3213C>T (p.Arg1071=)
c.918C>T (p.Arg306=)
c.3336C>T (p.Arg1112=)
c.3240C>T (p.Arg1080=)
c.3180C>T (p.Arg1060=)
c.3084C>T (p.Arg1028=)
 dbSNP gnomAD v3 gnomAD v4
6g.43044867G>CCA450260278CUL7,KLC4n.1128C>G
c.3057C>G (p.Arg1019=)
n.3618C>G
c.*1354C>G (n.*1354C>G)
n.3340C>G
n.3634C>G
c.1006C>G
n.3896C>G
c.3153C>G (p.Arg1051=)
c.1549C>G
c.-553+1359G>C (n.-553+1359G>C)
c.3309C>G (p.Arg1103=)
c.3213C>G (p.Arg1071=)
c.918C>G (p.Arg306=)
c.3336C>G (p.Arg1112=)
c.3240C>G (p.Arg1080=)
c.3180C>G (p.Arg1060=)
c.3084C>G (p.Arg1028=)
6g.43044867G=CA1624355724CUL7,KLC4n.1128C=
c.3057C= (p.Arg1019=)
n.3618C=
c.*1354C= (n.*1354C=)
n.3340C=
n.3634C=
c.1006C=
n.3896C=
c.3153C= (p.Arg1051=)
c.1549C=
c.-553+1359G= (n.-553+1359G=)
c.3309C= (p.Arg1103=)
c.3213C= (p.Arg1071=)
c.918C= (p.Arg306=)
c.3336C= (p.Arg1112=)
c.3240C= (p.Arg1080=)
c.3180C= (p.Arg1060=)
c.3084C= (p.Arg1028=)
6g.43044867G>TCA450260279CUL7,KLC4n.1128C>A
c.3057C>A (p.Arg1019=)
n.3618C>A
c.*1354C>A (n.*1354C>A)
n.3340C>A
n.3634C>A
c.1006C>A
n.3896C>A
c.3153C>A (p.Arg1051=)
c.1549C>A
c.-553+1359G>T (n.-553+1359G>T)
c.3309C>A (p.Arg1103=)
c.3213C>A (p.Arg1071=)
c.918C>A (p.Arg306=)
c.3336C>A (p.Arg1112=)
c.3240C>A (p.Arg1080=)
c.3180C>A (p.Arg1060=)
c.3084C>A (p.Arg1028=)
6g.43044868C>ACA3813594CUL7,KLC4n.1127G>T
c.3056G>T (p.Arg1019Leu)
n.3617G>T
c.*1353G>T (n.*1353G>T)
n.3339G>T
n.3633G>T
c.1005G>T
n.3895G>T
c.3152G>T (p.Arg1051Leu)
c.1548G>T
c.-553+1360C>A (n.-553+1360C>A)
c.3308G>T (p.Arg1103Leu)
c.3212G>T (p.Arg1071Leu)
c.917G>T (p.Arg306Leu)
c.3335G>T (p.Arg1112Leu)
c.3239G>T (p.Arg1080Leu)
c.3179G>T (p.Arg1060Leu)
c.3083G>T (p.Arg1028Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044868C=CA1624355725CUL7,KLC4n.1127G=
c.3056G= (p.Arg1019=)
n.3617G=
c.*1353G= (n.*1353G=)
n.3339G=
n.3633G=
c.1005G=
n.3895G=
c.3152G= (p.Arg1051=)
c.1548G=
c.-553+1360C= (n.-553+1360C=)
c.3308G= (p.Arg1103=)
c.3212G= (p.Arg1071=)
c.917G= (p.Arg306=)
c.3335G= (p.Arg1112=)
c.3239G= (p.Arg1080=)
c.3179G= (p.Arg1060=)
c.3083G= (p.Arg1028=)
6g.43044868C>GCA364207854CUL7,KLC4n.1127G>C
c.3056G>C (p.Arg1019Pro)
n.3617G>C
c.*1353G>C (n.*1353G>C)
n.3339G>C
n.3633G>C
c.1005G>C
n.3895G>C
c.3152G>C (p.Arg1051Pro)
c.1548G>C
c.-553+1360C>G (n.-553+1360C>G)
c.3308G>C (p.Arg1103Pro)
c.3212G>C (p.Arg1071Pro)
c.917G>C (p.Arg306Pro)
c.3335G>C (p.Arg1112Pro)
c.3239G>C (p.Arg1080Pro)
c.3179G>C (p.Arg1060Pro)
c.3083G>C (p.Arg1028Pro)
6g.43044868C>TCA3813595CUL7,KLC4n.1127G>A
c.3056G>A (p.Arg1019His)
n.3617G>A
c.*1353G>A (n.*1353G>A)
n.3339G>A
n.3633G>A
c.1005G>A
n.3895G>A
c.3152G>A (p.Arg1051His)
c.1548G>A
c.-553+1360C>T (n.-553+1360C>T)
c.3308G>A (p.Arg1103His)
c.3212G>A (p.Arg1071His)
c.917G>A (p.Arg306His)
c.3335G>A (p.Arg1112His)
c.3239G>A (p.Arg1080His)
c.3179G>A (p.Arg1060His)
c.3083G>A (p.Arg1028His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.43044869G>ACA3813596CUL7,KLC4n.1126C>T
c.3055C>T (p.Arg1019Cys)
n.3616C>T
c.*1352C>T (n.*1352C>T)
n.3338C>T
n.3632C>T
c.1004C>T
n.3894C>T
c.3151C>T (p.Arg1051Cys)
c.1547C>T
c.-553+1361G>A (n.-553+1361G>A)
c.3307C>T (p.Arg1103Cys)
c.3211C>T (p.Arg1071Cys)
c.916C>T (p.Arg306Cys)
c.3334C>T (p.Arg1112Cys)
c.3238C>T (p.Arg1080Cys)
c.3178C>T (p.Arg1060Cys)
c.3082C>T (p.Arg1028Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044869G>CCA364207865CUL7,KLC4n.1126C>G
c.3055C>G (p.Arg1019Gly)
n.3616C>G
c.*1352C>G (n.*1352C>G)
n.3338C>G
n.3632C>G
c.1004C>G
n.3894C>G
c.3151C>G (p.Arg1051Gly)
c.1547C>G
c.-553+1361G>C (n.-553+1361G>C)
c.3307C>G (p.Arg1103Gly)
c.3211C>G (p.Arg1071Gly)
c.916C>G (p.Arg306Gly)
c.3334C>G (p.Arg1112Gly)
c.3238C>G (p.Arg1080Gly)
c.3178C>G (p.Arg1060Gly)
c.3082C>G (p.Arg1028Gly)
6g.43044869G=CA1624355726CUL7,KLC4n.1126C=
c.3055C= (p.Arg1019=)
n.3616C=
c.*1352C= (n.*1352C=)
n.3338C=
n.3632C=
c.1004C=
n.3894C=
c.3151C= (p.Arg1051=)
c.1547C=
c.-553+1361G= (n.-553+1361G=)
c.3307C= (p.Arg1103=)
c.3211C= (p.Arg1071=)
c.916C= (p.Arg306=)
c.3334C= (p.Arg1112=)
c.3238C= (p.Arg1080=)
c.3178C= (p.Arg1060=)
c.3082C= (p.Arg1028=)
6g.43044869G>TCA364207868CUL7,KLC4n.1126C>A
c.3055C>A (p.Arg1019Ser)
n.3616C>A
c.*1352C>A (n.*1352C>A)
n.3338C>A
n.3632C>A
c.1004C>A
n.3894C>A
c.3151C>A (p.Arg1051Ser)
c.1547C>A
c.-553+1361G>T (n.-553+1361G>T)
c.3307C>A (p.Arg1103Ser)
c.3211C>A (p.Arg1071Ser)
c.916C>A (p.Arg306Ser)
c.3334C>A (p.Arg1112Ser)
c.3238C>A (p.Arg1080Ser)
c.3178C>A (p.Arg1060Ser)
c.3082C>A (p.Arg1028Ser)
 gnomAD v4
6g.43044870C>ACA450260284CUL7,KLC4n.1125G>T
c.3054G>T (p.Leu1018=)
n.3615G>T
c.*1351G>T (n.*1351G>T)
n.3337G>T
n.3631G>T
c.1003G>T
n.3893G>T
c.3150G>T (p.Leu1050=)
c.1546G>T
c.-553+1362C>A (n.-553+1362C>A)
c.3306G>T (p.Leu1102=)
c.3210G>T (p.Leu1070=)
c.915G>T (p.Leu305=)
c.3333G>T (p.Leu1111=)
c.3237G>T (p.Leu1079=)
c.3177G>T (p.Leu1059=)
c.3081G>T (p.Leu1027=)
6g.43044870C=CA1624355727CUL7,KLC4n.1125G=
c.3054G= (p.Leu1018=)
n.3615G=
c.*1351G= (n.*1351G=)
n.3337G=
n.3631G=
c.1003G=
n.3893G=
c.3150G= (p.Leu1050=)
c.1546G=
c.-553+1362C= (n.-553+1362C=)
c.3306G= (p.Leu1102=)
c.3210G= (p.Leu1070=)
c.915G= (p.Leu305=)
c.3333G= (p.Leu1111=)
c.3237G= (p.Leu1079=)
c.3177G= (p.Leu1059=)
c.3081G= (p.Leu1027=)
6g.43044870C>GCA3813597CUL7,KLC4n.1125G>C
c.3054G>C (p.Leu1018=)
n.3615G>C
c.*1351G>C (n.*1351G>C)
n.3337G>C
n.3631G>C
c.1003G>C
n.3893G>C
c.3150G>C (p.Leu1050=)
c.1546G>C
c.-553+1362C>G (n.-553+1362C>G)
c.3306G>C (p.Leu1102=)
c.3210G>C (p.Leu1070=)
c.915G>C (p.Leu305=)
c.3333G>C (p.Leu1111=)
c.3237G>C (p.Leu1079=)
c.3177G>C (p.Leu1059=)
c.3081G>C (p.Leu1027=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044870C>TCA450260285CUL7,KLC4n.1125G>A
c.3054G>A (p.Leu1018=)
n.3615G>A
c.*1351G>A (n.*1351G>A)
n.3337G>A
n.3631G>A
c.1003G>A
n.3893G>A
c.3150G>A (p.Leu1050=)
c.1546G>A
c.-553+1362C>T (n.-553+1362C>T)
c.3306G>A (p.Leu1102=)
c.3210G>A (p.Leu1070=)
c.915G>A (p.Leu305=)
c.3333G>A (p.Leu1111=)
c.3237G>A (p.Leu1079=)
c.3177G>A (p.Leu1059=)
c.3081G>A (p.Leu1027=)
 gnomAD v4
6g.43044870_43044871delinsCACA1624355728CUL7,KLC4n.1124_1125delinsTG
c.3053_3054delinsTG (p.Leu1018=)
n.3614_3615delinsTG
c.*1350_*1351delinsTG (n.*1350_*1351delinsTG)
n.3336_3337delinsTG
n.3630_3631delinsTG
c.1002_1003delinsTG
n.3892_3893delinsTG
c.3149_3150delinsTG (p.Leu1050=)
c.1545_1546delinsTG
c.-553+1362_-553+1363delinsCA (n.-553+1362_-553+1363delinsCA)
c.3305_3306delinsTG (p.Leu1102=)
c.3209_3210delinsTG (p.Leu1070=)
c.914_915delinsTG (p.Leu305=)
c.3332_3333delinsTG (p.Leu1111=)
c.3236_3237delinsTG (p.Leu1079=)
c.3176_3177delinsTG (p.Leu1059=)
c.3080_3081delinsTG (p.Leu1027=)
6g.43044871delCA1624355729CUL7,KLC4n.1124del
c.3053del (p.Leu1018ArgfsTer?)
n.3614del
c.*1350del (n.*1350del)
n.3336del
n.3630del
c.1002del
n.3892del
c.3149del (p.Leu1050ArgfsTer?)
c.1545del
c.-553+1363del (n.-553+1363del)
c.3305del (p.Leu1102ArgfsTer?)
c.3209del (p.Leu1070ArgfsTer?)
c.914del (p.Leu305ArgfsTer?)
c.3332del (p.Leu1111ArgfsTer?)
c.3236del (p.Leu1079ArgfsTer?)
c.3176del (p.Leu1059ArgfsTer?)
c.3080del (p.Leu1027ArgfsTer?)
 dbSNP gnomAD v4
6g.43044871A>CCA364207872CUL7,KLC4n.1124T>G
c.3053T>G (p.Leu1018Arg)
n.3614T>G
c.*1350T>G (n.*1350T>G)
n.3336T>G
n.3630T>G
c.1002T>G
n.3892T>G
c.3149T>G (p.Leu1050Arg)
c.1545T>G
c.-553+1363A>C (n.-553+1363A>C)
c.3305T>G (p.Leu1102Arg)
c.3209T>G (p.Leu1070Arg)
c.914T>G (p.Leu305Arg)
c.3332T>G (p.Leu1111Arg)
c.3236T>G (p.Leu1079Arg)
c.3176T>G (p.Leu1059Arg)
c.3080T>G (p.Leu1027Arg)
6g.43044871A>GCA364207874CUL7,KLC4n.1124T>C
c.3053T>C (p.Leu1018Pro)
n.3614T>C
c.*1350T>C (n.*1350T>C)
n.3336T>C
n.3630T>C
c.1002T>C
n.3892T>C
c.3149T>C (p.Leu1050Pro)
c.1545T>C
c.-553+1363A>G (n.-553+1363A>G)
c.3305T>C (p.Leu1102Pro)
c.3209T>C (p.Leu1070Pro)
c.914T>C (p.Leu305Pro)
c.3332T>C (p.Leu1111Pro)
c.3236T>C (p.Leu1079Pro)
c.3176T>C (p.Leu1059Pro)
c.3080T>C (p.Leu1027Pro)
6g.43044871A>TCA364207873CUL7,KLC4n.1124T>A
c.3053T>A (p.Leu1018Gln)
n.3614T>A
c.*1350T>A (n.*1350T>A)
n.3336T>A
n.3630T>A
c.1002T>A
n.3892T>A
c.3149T>A (p.Leu1050Gln)
c.1545T>A
c.-553+1363A>T (n.-553+1363A>T)
c.3305T>A (p.Leu1102Gln)
c.3209T>A (p.Leu1070Gln)
c.914T>A (p.Leu305Gln)
c.3332T>A (p.Leu1111Gln)
c.3236T>A (p.Leu1079Gln)
c.3176T>A (p.Leu1059Gln)
c.3080T>A (p.Leu1027Gln)
6g.43044872G>ACA450260289CUL7,KLC4n.1123C>T
c.3052C>T (p.Leu1018=)
n.3613C>T
c.*1349C>T (n.*1349C>T)
n.3335C>T
n.3629C>T
c.1001C>T
n.3891C>T
c.3148C>T (p.Leu1050=)
c.1544C>T
c.-553+1364G>A (n.-553+1364G>A)
c.3304C>T (p.Leu1102=)
c.3208C>T (p.Leu1070=)
c.913C>T (p.Leu305=)
c.3331C>T (p.Leu1111=)
c.3235C>T (p.Leu1079=)
c.3175C>T (p.Leu1059=)
c.3079C>T (p.Leu1027=)
 gnomAD v4
6g.43044872G>CCA364207877CUL7,KLC4n.1123C>G
c.3052C>G (p.Leu1018Val)
n.3613C>G
c.*1349C>G (n.*1349C>G)
n.3335C>G
n.3629C>G
c.1001C>G
n.3891C>G
c.3148C>G (p.Leu1050Val)
c.1544C>G
c.-553+1364G>C (n.-553+1364G>C)
c.3304C>G (p.Leu1102Val)
c.3208C>G (p.Leu1070Val)
c.913C>G (p.Leu305Val)
c.3331C>G (p.Leu1111Val)
c.3235C>G (p.Leu1079Val)
c.3175C>G (p.Leu1059Val)
c.3079C>G (p.Leu1027Val)
6g.43044872G>TCA364207879CUL7,KLC4n.1123C>A
c.3052C>A (p.Leu1018Met)
n.3613C>A
c.*1349C>A (n.*1349C>A)
n.3335C>A
n.3629C>A
c.1001C>A
n.3891C>A
c.3148C>A (p.Leu1050Met)
c.1544C>A
c.-553+1364G>T (n.-553+1364G>T)
c.3304C>A (p.Leu1102Met)
c.3208C>A (p.Leu1070Met)
c.913C>A (p.Leu305Met)
c.3331C>A (p.Leu1111Met)
c.3235C>A (p.Leu1079Met)
c.3175C>A (p.Leu1059Met)
c.3079C>A (p.Leu1027Met)
 gnomAD v4
6g.43044873A>CCA450260290CUL7,KLC4n.1122T>G
c.3051T>G (p.Ala1017=)
n.3612T>G
c.*1348T>G (n.*1348T>G)
n.3334T>G
n.3628T>G
c.1000T>G
n.3890T>G
c.3147T>G (p.Ala1049=)
c.1543T>G
c.-553+1365A>C (n.-553+1365A>C)
c.3303T>G (p.Ala1101=)
c.3207T>G (p.Ala1069=)
c.912T>G (p.Ala304=)
c.3330T>G (p.Ala1110=)
c.3234T>G (p.Ala1078=)
c.3174T>G (p.Ala1058=)
c.3078T>G (p.Ala1026=)
6g.43044873A>GCA450260292CUL7,KLC4n.1122T>C
c.3051T>C (p.Ala1017=)
n.3612T>C
c.*1348T>C (n.*1348T>C)
n.3334T>C
n.3628T>C
c.1000T>C
n.3890T>C
c.3147T>C (p.Ala1049=)
c.1543T>C
c.-553+1365A>G (n.-553+1365A>G)
c.3303T>C (p.Ala1101=)
c.3207T>C (p.Ala1069=)
c.912T>C (p.Ala304=)
c.3330T>C (p.Ala1110=)
c.3234T>C (p.Ala1078=)
c.3174T>C (p.Ala1058=)
c.3078T>C (p.Ala1026=)
6g.43044873A>TCA450260291CUL7,KLC4n.1122T>A
c.3051T>A (p.Ala1017=)
n.3612T>A
c.*1348T>A (n.*1348T>A)
n.3334T>A
n.3628T>A
c.1000T>A
n.3890T>A
c.3147T>A (p.Ala1049=)
c.1543T>A
c.-553+1365A>T (n.-553+1365A>T)
c.3303T>A (p.Ala1101=)
c.3207T>A (p.Ala1069=)
c.912T>A (p.Ala304=)
c.3330T>A (p.Ala1110=)
c.3234T>A (p.Ala1078=)
c.3174T>A (p.Ala1058=)
c.3078T>A (p.Ala1026=)
6g.43044874G>ACA364207882CUL7,KLC4n.1121C>T
c.3050C>T (p.Ala1017Val)
n.3611C>T
c.*1347C>T (n.*1347C>T)
n.3333C>T
n.3627C>T
c.999C>T
n.3889C>T
c.3146C>T (p.Ala1049Val)
c.1542C>T
c.-553+1366G>A (n.-553+1366G>A)
c.3302C>T (p.Ala1101Val)
c.3206C>T (p.Ala1069Val)
c.911C>T (p.Ala304Val)
c.3329C>T (p.Ala1110Val)
c.3233C>T (p.Ala1078Val)
c.3173C>T (p.Ala1058Val)
c.3077C>T (p.Ala1026Val)
6g.43044874G>CCA364207886CUL7,KLC4n.1121C>G
c.3050C>G (p.Ala1017Gly)
n.3611C>G
c.*1347C>G (n.*1347C>G)
n.3333C>G
n.3627C>G
c.999C>G
n.3889C>G
c.3146C>G (p.Ala1049Gly)
c.1542C>G
c.-553+1366G>C (n.-553+1366G>C)
c.3302C>G (p.Ala1101Gly)
c.3206C>G (p.Ala1069Gly)
c.911C>G (p.Ala304Gly)
c.3329C>G (p.Ala1110Gly)
c.3233C>G (p.Ala1078Gly)
c.3173C>G (p.Ala1058Gly)
c.3077C>G (p.Ala1026Gly)
6g.43044874G>TCA364207889CUL7,KLC4n.1121C>A
c.3050C>A (p.Ala1017Asp)
n.3611C>A
c.*1347C>A (n.*1347C>A)
n.3333C>A
n.3627C>A
c.999C>A
n.3889C>A
c.3146C>A (p.Ala1049Asp)
c.1542C>A
c.-553+1366G>T (n.-553+1366G>T)
c.3302C>A (p.Ala1101Asp)
c.3206C>A (p.Ala1069Asp)
c.911C>A (p.Ala304Asp)
c.3329C>A (p.Ala1110Asp)
c.3233C>A (p.Ala1078Asp)
c.3173C>A (p.Ala1058Asp)
c.3077C>A (p.Ala1026Asp)
6g.43044875C>ACA364207891CUL7,KLC4n.1120G>T
c.3049G>T (p.Ala1017Ser)
n.3610G>T
c.*1346G>T (n.*1346G>T)
n.3332G>T
n.3626G>T
c.998G>T
n.3888G>T
c.3145G>T (p.Ala1049Ser)
c.1541G>T
c.-553+1367C>A (n.-553+1367C>A)
c.3301G>T (p.Ala1101Ser)
c.3205G>T (p.Ala1069Ser)
c.910G>T (p.Ala304Ser)
c.3328G>T (p.Ala1110Ser)
c.3232G>T (p.Ala1078Ser)
c.3172G>T (p.Ala1058Ser)
c.3076G>T (p.Ala1026Ser)
6g.43044875C=CA1624355730CUL7,KLC4n.1120G=
c.3049G= (p.Ala1017=)
n.3610G=
c.*1346G= (n.*1346G=)
n.3332G=
n.3626G=
c.998G=
n.3888G=
c.3145G= (p.Ala1049=)
c.1541G=
c.-553+1367C= (n.-553+1367C=)
c.3301G= (p.Ala1101=)
c.3205G= (p.Ala1069=)
c.910G= (p.Ala304=)
c.3328G= (p.Ala1110=)
c.3232G= (p.Ala1078=)
c.3172G= (p.Ala1058=)
c.3076G= (p.Ala1026=)
6g.43044875C>GCA364207892CUL7,KLC4n.1120G>C
c.3049G>C (p.Ala1017Pro)
n.3610G>C
c.*1346G>C (n.*1346G>C)
n.3332G>C
n.3626G>C
c.998G>C
n.3888G>C
c.3145G>C (p.Ala1049Pro)
c.1541G>C
c.-553+1367C>G (n.-553+1367C>G)
c.3301G>C (p.Ala1101Pro)
c.3205G>C (p.Ala1069Pro)
c.910G>C (p.Ala304Pro)
c.3328G>C (p.Ala1110Pro)
c.3232G>C (p.Ala1078Pro)
c.3172G>C (p.Ala1058Pro)
c.3076G>C (p.Ala1026Pro)
 gnomAD v4
6g.43044875C>TCA3813598CUL7,KLC4n.1120G>A
c.3049G>A (p.Ala1017Thr)
n.3610G>A
c.*1346G>A (n.*1346G>A)
n.3332G>A
n.3626G>A
c.998G>A
n.3888G>A
c.3145G>A (p.Ala1049Thr)
c.1541G>A
c.-553+1367C>T (n.-553+1367C>T)
c.3301G>A (p.Ala1101Thr)
c.3205G>A (p.Ala1069Thr)
c.910G>A (p.Ala304Thr)
c.3328G>A (p.Ala1110Thr)
c.3232G>A (p.Ala1078Thr)
c.3172G>A (p.Ala1058Thr)
c.3076G>A (p.Ala1026Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044876A>CCA450260297CUL7,KLC4n.1119T>G
c.3048T>G (p.Gly1016=)
n.3609T>G
c.*1345T>G (n.*1345T>G)
n.3331T>G
n.3625T>G
c.997T>G
n.3887T>G
c.3144T>G (p.Gly1048=)
c.1540T>G
c.-553+1368A>C (n.-553+1368A>C)
c.3300T>G (p.Gly1100=)
c.3204T>G (p.Gly1068=)
c.909T>G (p.Gly303=)
c.3327T>G (p.Gly1109=)
c.3231T>G (p.Gly1077=)
c.3171T>G (p.Gly1057=)
c.3075T>G (p.Gly1025=)
6g.43044876A>GCA450260298CUL7,KLC4n.1119T>C
c.3048T>C (p.Gly1016=)
n.3609T>C
c.*1345T>C (n.*1345T>C)
n.3331T>C
n.3625T>C
c.997T>C
n.3887T>C
c.3144T>C (p.Gly1048=)
c.1540T>C
c.-553+1368A>G (n.-553+1368A>G)
c.3300T>C (p.Gly1100=)
c.3204T>C (p.Gly1068=)
c.909T>C (p.Gly303=)
c.3327T>C (p.Gly1109=)
c.3231T>C (p.Gly1077=)
c.3171T>C (p.Gly1057=)
c.3075T>C (p.Gly1025=)
6g.43044876A>TCA450260299CUL7,KLC4n.1119T>A
c.3048T>A (p.Gly1016=)
n.3609T>A
c.*1345T>A (n.*1345T>A)
n.3331T>A
n.3625T>A
c.997T>A
n.3887T>A
c.3144T>A (p.Gly1048=)
c.1540T>A
c.-553+1368A>T (n.-553+1368A>T)
c.3300T>A (p.Gly1100=)
c.3204T>A (p.Gly1068=)
c.909T>A (p.Gly303=)
c.3327T>A (p.Gly1109=)
c.3231T>A (p.Gly1077=)
c.3171T>A (p.Gly1057=)
c.3075T>A (p.Gly1025=)
 gnomAD v4
6g.43044877C>ACA364207894CUL7,KLC4n.1118G>T
c.3047G>T (p.Gly1016Val)
n.3608G>T
c.*1344G>T (n.*1344G>T)
n.3330G>T
n.3624G>T
c.996G>T
n.3886G>T
c.3143G>T (p.Gly1048Val)
c.1539G>T
c.-553+1369C>A (n.-553+1369C>A)
c.3299G>T (p.Gly1100Val)
c.3203G>T (p.Gly1068Val)
c.908G>T (p.Gly303Val)
c.3326G>T (p.Gly1109Val)
c.3230G>T (p.Gly1077Val)
c.3170G>T (p.Gly1057Val)
c.3074G>T (p.Gly1025Val)
6g.43044877C>GCA364207896CUL7,KLC4n.1118G>C
c.3047G>C (p.Gly1016Ala)
n.3608G>C
c.*1344G>C (n.*1344G>C)
n.3330G>C
n.3624G>C
c.996G>C
n.3886G>C
c.3143G>C (p.Gly1048Ala)
c.1539G>C
c.-553+1369C>G (n.-553+1369C>G)
c.3299G>C (p.Gly1100Ala)
c.3203G>C (p.Gly1068Ala)
c.908G>C (p.Gly303Ala)
c.3326G>C (p.Gly1109Ala)
c.3230G>C (p.Gly1077Ala)
c.3170G>C (p.Gly1057Ala)
c.3074G>C (p.Gly1025Ala)
6g.43044877C>TCA364207898CUL7,KLC4n.1118G>A
c.3047G>A (p.Gly1016Asp)
n.3608G>A
c.*1344G>A (n.*1344G>A)
n.3330G>A
n.3624G>A
c.996G>A
n.3886G>A
c.3143G>A (p.Gly1048Asp)
c.1539G>A
c.-553+1369C>T (n.-553+1369C>T)
c.3299G>A (p.Gly1100Asp)
c.3203G>A (p.Gly1068Asp)
c.908G>A (p.Gly303Asp)
c.3326G>A (p.Gly1109Asp)
c.3230G>A (p.Gly1077Asp)
c.3170G>A (p.Gly1057Asp)
c.3074G>A (p.Gly1025Asp)
6g.43044878C>ACA364207907CUL7,KLC4n.1117G>T
c.3046G>T (p.Gly1016Cys)
n.3607G>T
c.*1343G>T (n.*1343G>T)
n.3329G>T
n.3623G>T
c.995G>T
n.3885G>T
c.3142G>T (p.Gly1048Cys)
c.1538G>T
c.-553+1370C>A (n.-553+1370C>A)
c.3298G>T (p.Gly1100Cys)
c.3202G>T (p.Gly1068Cys)
c.907G>T (p.Gly303Cys)
c.3325G>T (p.Gly1109Cys)
c.3229G>T (p.Gly1077Cys)
c.3169G>T (p.Gly1057Cys)
c.3073G>T (p.Gly1025Cys)
6g.43044878C=CA1624355731CUL7,KLC4n.1117G=
c.3046G= (p.Gly1016=)
n.3607G=
c.*1343G= (n.*1343G=)
n.3329G=
n.3623G=
c.995G=
n.3885G=
c.3142G= (p.Gly1048=)
c.1538G=
c.-553+1370C= (n.-553+1370C=)
c.3298G= (p.Gly1100=)
c.3202G= (p.Gly1068=)
c.907G= (p.Gly303=)
c.3325G= (p.Gly1109=)
c.3229G= (p.Gly1077=)
c.3169G= (p.Gly1057=)
c.3073G= (p.Gly1025=)
6g.43044878C>GCA364207911CUL7,KLC4n.1117G>C
c.3046G>C (p.Gly1016Arg)
n.3607G>C
c.*1343G>C (n.*1343G>C)
n.3329G>C
n.3623G>C
c.995G>C
n.3885G>C
c.3142G>C (p.Gly1048Arg)
c.1538G>C
c.-553+1370C>G (n.-553+1370C>G)
c.3298G>C (p.Gly1100Arg)
c.3202G>C (p.Gly1068Arg)
c.907G>C (p.Gly303Arg)
c.3325G>C (p.Gly1109Arg)
c.3229G>C (p.Gly1077Arg)
c.3169G>C (p.Gly1057Arg)
c.3073G>C (p.Gly1025Arg)
6g.43044878C>TCA3813599CUL7,KLC4n.1117G>A
c.3046G>A (p.Gly1016Ser)
n.3607G>A
c.*1343G>A (n.*1343G>A)
n.3329G>A
n.3623G>A
c.995G>A
n.3885G>A
c.3142G>A (p.Gly1048Ser)
c.1538G>A
c.-553+1370C>T (n.-553+1370C>T)
c.3298G>A (p.Gly1100Ser)
c.3202G>A (p.Gly1068Ser)
c.907G>A (p.Gly303Ser)
c.3325G>A (p.Gly1109Ser)
c.3229G>A (p.Gly1077Ser)
c.3169G>A (p.Gly1057Ser)
c.3073G>A (p.Gly1025Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044879G>ACA3813600CUL7,KLC4n.1116C>T
c.3045C>T (p.Asn1015=)
n.3606C>T
c.*1342C>T (n.*1342C>T)
n.3328C>T
n.3622C>T
c.994C>T
n.3884C>T
c.3141C>T (p.Asn1047=)
c.1537C>T
c.-553+1371G>A (n.-553+1371G>A)
c.3297C>T (p.Asn1099=)
c.3201C>T (p.Asn1067=)
c.906C>T (p.Asn302=)
c.3324C>T (p.Asn1108=)
c.3228C>T (p.Asn1076=)
c.3168C>T (p.Asn1056=)
c.3072C>T (p.Asn1024=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044879G>CCA364207916CUL7,KLC4n.1116C>G
c.3045C>G (p.Asn1015Lys)
n.3606C>G
c.*1342C>G (n.*1342C>G)
n.3328C>G
n.3622C>G
c.994C>G
n.3884C>G
c.3141C>G (p.Asn1047Lys)
c.1537C>G
c.-553+1371G>C (n.-553+1371G>C)
c.3297C>G (p.Asn1099Lys)
c.3201C>G (p.Asn1067Lys)
c.906C>G (p.Asn302Lys)
c.3324C>G (p.Asn1108Lys)
c.3228C>G (p.Asn1076Lys)
c.3168C>G (p.Asn1056Lys)
c.3072C>G (p.Asn1024Lys)
6g.43044879G=CA1624355732CUL7,KLC4n.1116C=
c.3045C= (p.Asn1015=)
n.3606C=
c.*1342C= (n.*1342C=)
n.3328C=
n.3622C=
c.994C=
n.3884C=
c.3141C= (p.Asn1047=)
c.1537C=
c.-553+1371G= (n.-553+1371G=)
c.3297C= (p.Asn1099=)
c.3201C= (p.Asn1067=)
c.906C= (p.Asn302=)
c.3324C= (p.Asn1108=)
c.3228C= (p.Asn1076=)
c.3168C= (p.Asn1056=)
c.3072C= (p.Asn1024=)
6g.43044879G>TCA364207918CUL7,KLC4n.1116C>A
c.3045C>A (p.Asn1015Lys)
n.3606C>A
c.*1342C>A (n.*1342C>A)
n.3328C>A
n.3622C>A
c.994C>A
n.3884C>A
c.3141C>A (p.Asn1047Lys)
c.1537C>A
c.-553+1371G>T (n.-553+1371G>T)
c.3297C>A (p.Asn1099Lys)
c.3201C>A (p.Asn1067Lys)
c.906C>A (p.Asn302Lys)
c.3324C>A (p.Asn1108Lys)
c.3228C>A (p.Asn1076Lys)
c.3168C>A (p.Asn1056Lys)
c.3072C>A (p.Asn1024Lys)
 gnomAD v4
6g.43044880T>ACA364207925CUL7,KLC4n.1115A>T
c.3044A>T (p.Asn1015Ile)
n.3605A>T
c.*1341A>T (n.*1341A>T)
n.3327A>T
n.3621A>T
c.993A>T
n.3883A>T
c.3140A>T (p.Asn1047Ile)
c.1536A>T
c.-553+1372T>A (n.-553+1372T>A)
c.3296A>T (p.Asn1099Ile)
c.3200A>T (p.Asn1067Ile)
c.905A>T (p.Asn302Ile)
c.3323A>T (p.Asn1108Ile)
c.3227A>T (p.Asn1076Ile)
c.3167A>T (p.Asn1056Ile)
c.3071A>T (p.Asn1024Ile)
6g.43044880T>CCA364207929CUL7,KLC4n.1115A>G
c.3044A>G (p.Asn1015Ser)
n.3605A>G
c.*1341A>G (n.*1341A>G)
n.3327A>G
n.3621A>G
c.993A>G
n.3883A>G
c.3140A>G (p.Asn1047Ser)
c.1536A>G
c.-553+1372T>C (n.-553+1372T>C)
c.3296A>G (p.Asn1099Ser)
c.3200A>G (p.Asn1067Ser)
c.905A>G (p.Asn302Ser)
c.3323A>G (p.Asn1108Ser)
c.3227A>G (p.Asn1076Ser)
c.3167A>G (p.Asn1056Ser)
c.3071A>G (p.Asn1024Ser)
 dbSNP gnomAD v4
6g.43044880T>GCA364207932CUL7,KLC4n.1115A>C
c.3044A>C (p.Asn1015Thr)
n.3605A>C
c.*1341A>C (n.*1341A>C)
n.3327A>C
n.3621A>C
c.993A>C
n.3883A>C
c.3140A>C (p.Asn1047Thr)
c.1536A>C
c.-553+1372T>G (n.-553+1372T>G)
c.3296A>C (p.Asn1099Thr)
c.3200A>C (p.Asn1067Thr)
c.905A>C (p.Asn302Thr)
c.3323A>C (p.Asn1108Thr)
c.3227A>C (p.Asn1076Thr)
c.3167A>C (p.Asn1056Thr)
c.3071A>C (p.Asn1024Thr)
6g.43044880T=CA1624355733CUL7,KLC4n.1115A=
c.3044A= (p.Asn1015=)
n.3605A=
c.*1341A= (n.*1341A=)
n.3327A=
n.3621A=
c.993A=
n.3883A=
c.3140A= (p.Asn1047=)
c.1536A=
c.-553+1372T= (n.-553+1372T=)
c.3296A= (p.Asn1099=)
c.3200A= (p.Asn1067=)
c.905A= (p.Asn302=)
c.3323A= (p.Asn1108=)
c.3227A= (p.Asn1076=)
c.3167A= (p.Asn1056=)
c.3071A= (p.Asn1024=)
6g.43044881T>ACA364207935CUL7,KLC4n.1114A>T
c.3043A>T (p.Asn1015Tyr)
n.3604A>T
c.*1340A>T (n.*1340A>T)
n.3326A>T
n.3620A>T
c.992A>T
n.3882A>T
c.3139A>T (p.Asn1047Tyr)
c.1535A>T
c.-553+1373T>A (n.-553+1373T>A)
c.3295A>T (p.Asn1099Tyr)
c.3199A>T (p.Asn1067Tyr)
c.904A>T (p.Asn302Tyr)
c.3322A>T (p.Asn1108Tyr)
c.3226A>T (p.Asn1076Tyr)
c.3166A>T (p.Asn1056Tyr)
c.3070A>T (p.Asn1024Tyr)
6g.43044881T>CCA364207939CUL7,KLC4n.1114A>G
c.3043A>G (p.Asn1015Asp)
n.3604A>G
c.*1340A>G (n.*1340A>G)
n.3326A>G
n.3620A>G
c.992A>G
n.3882A>G
c.3139A>G (p.Asn1047Asp)
c.1535A>G
c.-553+1373T>C (n.-553+1373T>C)
c.3295A>G (p.Asn1099Asp)
c.3199A>G (p.Asn1067Asp)
c.904A>G (p.Asn302Asp)
c.3322A>G (p.Asn1108Asp)
c.3226A>G (p.Asn1076Asp)
c.3166A>G (p.Asn1056Asp)
c.3070A>G (p.Asn1024Asp)
6g.43044881T>GCA364207943CUL7,KLC4n.1114A>C
c.3043A>C (p.Asn1015His)
n.3604A>C
c.*1340A>C (n.*1340A>C)
n.3326A>C
n.3620A>C
c.992A>C
n.3882A>C
c.3139A>C (p.Asn1047His)
c.1535A>C
c.-553+1373T>G (n.-553+1373T>G)
c.3295A>C (p.Asn1099His)
c.3199A>C (p.Asn1067His)
c.904A>C (p.Asn302His)
c.3322A>C (p.Asn1108His)
c.3226A>C (p.Asn1076His)
c.3166A>C (p.Asn1056His)
c.3070A>C (p.Asn1024His)
6g.43044882G>ACA450260302CUL7,KLC4n.1113C>T
c.3042C>T (p.Leu1014=)
n.3603C>T
c.*1339C>T (n.*1339C>T)
n.3325C>T
n.3619C>T
c.991C>T
n.3881C>T
c.3138C>T (p.Leu1046=)
c.1534C>T
c.-553+1374G>A (n.-553+1374G>A)
c.3294C>T (p.Leu1098=)
c.3198C>T (p.Leu1066=)
c.903C>T (p.Leu301=)
c.3321C>T (p.Leu1107=)
c.3225C>T (p.Leu1075=)
c.3165C>T (p.Leu1055=)
c.3069C>T (p.Leu1023=)
6g.43044882G>CCA3813601CUL7,KLC4n.1113C>G
c.3042C>G (p.Leu1014=)
n.3603C>G
c.*1339C>G (n.*1339C>G)
n.3325C>G
n.3619C>G
c.991C>G
n.3881C>G
c.3138C>G (p.Leu1046=)
c.1534C>G
c.-553+1374G>C (n.-553+1374G>C)
c.3294C>G (p.Leu1098=)
c.3198C>G (p.Leu1066=)
c.903C>G (p.Leu301=)
c.3321C>G (p.Leu1107=)
c.3225C>G (p.Leu1075=)
c.3165C>G (p.Leu1055=)
c.3069C>G (p.Leu1023=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43044882G=CA1624355734CUL7,KLC4n.1113C=
c.3042C= (p.Leu1014=)
n.3603C=
c.*1339C= (n.*1339C=)
n.3325C=
n.3619C=
c.991C=
n.3881C=
c.3138C= (p.Leu1046=)
c.1534C=
c.-553+1374G= (n.-553+1374G=)
c.3294C= (p.Leu1098=)
c.3198C= (p.Leu1066=)
c.903C= (p.Leu301=)
c.3321C= (p.Leu1107=)
c.3225C= (p.Leu1075=)
c.3165C= (p.Leu1055=)
c.3069C= (p.Leu1023=)
6g.43044882G>TCA450260305CUL7,KLC4n.1113C>A
c.3042C>A (p.Leu1014=)
n.3603C>A
c.*1339C>A (n.*1339C>A)
n.3325C>A
n.3619C>A
c.991C>A
n.3881C>A
c.3138C>A (p.Leu1046=)
c.1534C>A
c.-553+1374G>T (n.-553+1374G>T)
c.3294C>A (p.Leu1098=)
c.3198C>A (p.Leu1066=)
c.903C>A (p.Leu301=)
c.3321C>A (p.Leu1107=)
c.3225C>A (p.Leu1075=)
c.3165C>A (p.Leu1055=)
c.3069C>A (p.Leu1023=)
6g.43044883A=CA1624355735CUL7,KLC4n.1112T=
c.3041T= (p.Leu1014=)
n.3602T=
c.*1338T= (n.*1338T=)
n.3324T=
n.3618T=
c.990T=
n.3880T=
c.3137T= (p.Leu1046=)
c.1533T=
c.-553+1375A= (n.-553+1375A=)
c.3293T= (p.Leu1098=)
c.3197T= (p.Leu1066=)
c.902T= (p.Leu301=)
c.3320T= (p.Leu1107=)
c.3224T= (p.Leu1075=)
c.3164T= (p.Leu1055=)
c.3068T= (p.Leu1023=)
6g.43044883A>CCA275038CUL7,KLC4n.1112T>G
c.3041T>G (p.Leu1014Arg)
n.3602T>G
c.*1338T>G (n.*1338T>G)
n.3324T>G
n.3618T>G
c.990T>G
n.3880T>G
c.3137T>G (p.Leu1046Arg)
c.1533T>G
c.-553+1375A>C (n.-553+1375A>C)
c.3293T>G (p.Leu1098Arg)
c.3197T>G (p.Leu1066Arg)
c.902T>G (p.Leu301Arg)
c.3320T>G (p.Leu1107Arg)
c.3224T>G (p.Leu1075Arg)
c.3164T>G (p.Leu1055Arg)
c.3068T>G (p.Leu1023Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43044883A>GCA364207952CUL7,KLC4n.1112T>C
c.3041T>C (p.Leu1014Pro)
n.3602T>C
c.*1338T>C (n.*1338T>C)
n.3324T>C
n.3618T>C
c.990T>C
n.3880T>C
c.3137T>C (p.Leu1046Pro)
c.1533T>C
c.-553+1375A>G (n.-553+1375A>G)
c.3293T>C (p.Leu1098Pro)
c.3197T>C (p.Leu1066Pro)
c.902T>C (p.Leu301Pro)
c.3320T>C (p.Leu1107Pro)
c.3224T>C (p.Leu1075Pro)
c.3164T>C (p.Leu1055Pro)
c.3068T>C (p.Leu1023Pro)
6g.43044883A>TCA364207956CUL7,KLC4n.1112T>A
c.3041T>A (p.Leu1014His)
n.3602T>A
c.*1338T>A (n.*1338T>A)
n.3324T>A
n.3618T>A
c.990T>A
n.3880T>A
c.3137T>A (p.Leu1046His)
c.1533T>A
c.-553+1375A>T (n.-553+1375A>T)
c.3293T>A (p.Leu1098His)
c.3197T>A (p.Leu1066His)
c.902T>A (p.Leu301His)
c.3320T>A (p.Leu1107His)
c.3224T>A (p.Leu1075His)
c.3164T>A (p.Leu1055His)
c.3068T>A (p.Leu1023His)

Number of alleles fetched