Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43045225A=CA1624355880CUL7,KLC4n.1109+2T=
c.3038+2T= (n.3038+2T=)
n.3599+2T=
c.*1335+2T= (n.*1335+2T=)
n.3321+2T=
n.3615+2T=
c.987+2T=
n.3877+2T=
c.3134+2T= (n.3134+2T=)
c.1530+2T=
c.-553+1717A= (n.-553+1717A=)
c.3290+2T= (n.3290+2T=)
c.3194+2T= (n.3194+2T=)
c.899+2T= (n.899+2T=)
c.3317+2T= (n.3317+2T=)
c.3221+2T= (n.3221+2T=)
c.3161+2T= (n.3161+2T=)
c.3065+2T= (n.3065+2T=)
6g.43045225A>CCA364208111CUL7,KLC4n.1109+2T>G
c.3038+2T>G (n.3038+2T>G)
n.3599+2T>G
c.*1335+2T>G (n.*1335+2T>G)
n.3321+2T>G
n.3615+2T>G
c.987+2T>G
n.3877+2T>G
c.3134+2T>G (n.3134+2T>G)
c.1530+2T>G
c.-553+1717A>C (n.-553+1717A>C)
c.3290+2T>G (n.3290+2T>G)
c.3194+2T>G (n.3194+2T>G)
c.899+2T>G (n.899+2T>G)
c.3317+2T>G (n.3317+2T>G)
c.3221+2T>G (n.3221+2T>G)
c.3161+2T>G (n.3161+2T>G)
c.3065+2T>G (n.3065+2T>G)
6g.43045225A>GCA364208115CUL7,KLC4n.1109+2T>C
c.3038+2T>C (n.3038+2T>C)
n.3599+2T>C
c.*1335+2T>C (n.*1335+2T>C)
n.3321+2T>C
n.3615+2T>C
c.987+2T>C
n.3877+2T>C
c.3134+2T>C (n.3134+2T>C)
c.1530+2T>C
c.-553+1717A>G (n.-553+1717A>G)
c.3290+2T>C (n.3290+2T>C)
c.3194+2T>C (n.3194+2T>C)
c.899+2T>C (n.899+2T>C)
c.3317+2T>C (n.3317+2T>C)
c.3221+2T>C (n.3221+2T>C)
c.3161+2T>C (n.3161+2T>C)
c.3065+2T>C (n.3065+2T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.43045225A>TCA364208121CUL7,KLC4n.1109+2T>A
c.3038+2T>A (n.3038+2T>A)
n.3599+2T>A
c.*1335+2T>A (n.*1335+2T>A)
n.3321+2T>A
n.3615+2T>A
c.987+2T>A
n.3877+2T>A
c.3134+2T>A (n.3134+2T>A)
c.1530+2T>A
c.-553+1717A>T (n.-553+1717A>T)
c.3290+2T>A (n.3290+2T>A)
c.3194+2T>A (n.3194+2T>A)
c.899+2T>A (n.899+2T>A)
c.3317+2T>A (n.3317+2T>A)
c.3221+2T>A (n.3221+2T>A)
c.3161+2T>A (n.3161+2T>A)
c.3065+2T>A (n.3065+2T>A)
6g.43045226C>ACA364208127CUL7,KLC4n.1109+1G>T
c.3038+1G>T (n.3038+1G>T)
n.3599+1G>T
c.*1335+1G>T (n.*1335+1G>T)
n.3321+1G>T
n.3615+1G>T
c.987+1G>T
n.3877+1G>T
c.3134+1G>T (n.3134+1G>T)
c.1530+1G>T
c.-553+1718C>A (n.-553+1718C>A)
c.3290+1G>T (n.3290+1G>T)
c.3194+1G>T (n.3194+1G>T)
c.899+1G>T (n.899+1G>T)
c.3317+1G>T (n.3317+1G>T)
c.3221+1G>T (n.3221+1G>T)
c.3161+1G>T (n.3161+1G>T)
c.3065+1G>T (n.3065+1G>T)
6g.43045226C>GCA364208130CUL7,KLC4n.1109+1G>C
c.3038+1G>C (n.3038+1G>C)
n.3599+1G>C
c.*1335+1G>C (n.*1335+1G>C)
n.3321+1G>C
n.3615+1G>C
c.987+1G>C
n.3877+1G>C
c.3134+1G>C (n.3134+1G>C)
c.1530+1G>C
c.-553+1718C>G (n.-553+1718C>G)
c.3290+1G>C (n.3290+1G>C)
c.3194+1G>C (n.3194+1G>C)
c.899+1G>C (n.899+1G>C)
c.3317+1G>C (n.3317+1G>C)
c.3221+1G>C (n.3221+1G>C)
c.3161+1G>C (n.3161+1G>C)
c.3065+1G>C (n.3065+1G>C)
6g.43045226C>TCA364208131CUL7,KLC4n.1109+1G>A
c.3038+1G>A (n.3038+1G>A)
n.3599+1G>A
c.*1335+1G>A (n.*1335+1G>A)
n.3321+1G>A
n.3615+1G>A
c.987+1G>A
n.3877+1G>A
c.3134+1G>A (n.3134+1G>A)
c.1530+1G>A
c.-553+1718C>T (n.-553+1718C>T)
c.3290+1G>A (n.3290+1G>A)
c.3194+1G>A (n.3194+1G>A)
c.899+1G>A (n.899+1G>A)
c.3317+1G>A (n.3317+1G>A)
c.3221+1G>A (n.3221+1G>A)
c.3161+1G>A (n.3161+1G>A)
c.3065+1G>A (n.3065+1G>A)
6g.43045227C>ACA364208139CUL7,KLC4n.1109G>T
c.3038G>T (p.Arg1013Ile)
n.3599G>T
c.*1335G>T (n.*1335G>T)
n.3321G>T
n.3615G>T
c.987G>T
n.3877G>T
c.3134G>T (p.Arg1045Ile)
c.1530G>T
c.-553+1719C>A (n.-553+1719C>A)
c.3290G>T (p.Arg1097Ile)
c.3194G>T (p.Arg1065Ile)
c.899G>T (p.Arg300Ile)
c.3317G>T (p.Arg1106Ile)
c.3221G>T (p.Arg1074Ile)
c.3161G>T (p.Arg1054Ile)
c.3065G>T (p.Arg1022Ile)
6g.43045227C>GCA364208135CUL7,KLC4n.1109G>C
c.3038G>C (p.Arg1013Thr)
n.3599G>C
c.*1335G>C (n.*1335G>C)
n.3321G>C
n.3615G>C
c.987G>C
n.3877G>C
c.3134G>C (p.Arg1045Thr)
c.1530G>C
c.-553+1719C>G (n.-553+1719C>G)
c.3290G>C (p.Arg1097Thr)
c.3194G>C (p.Arg1065Thr)
c.899G>C (p.Arg300Thr)
c.3317G>C (p.Arg1106Thr)
c.3221G>C (p.Arg1074Thr)
c.3161G>C (p.Arg1054Thr)
c.3065G>C (p.Arg1022Thr)
6g.43045227C>TCA364208132CUL7,KLC4n.1109G>A
c.3038G>A (p.Arg1013Lys)
n.3599G>A
c.*1335G>A (n.*1335G>A)
n.3321G>A
n.3615G>A
c.987G>A
n.3877G>A
c.3134G>A (p.Arg1045Lys)
c.1530G>A
c.-553+1719C>T (n.-553+1719C>T)
c.3290G>A (p.Arg1097Lys)
c.3194G>A (p.Arg1065Lys)
c.899G>A (p.Arg300Lys)
c.3317G>A (p.Arg1106Lys)
c.3221G>A (p.Arg1074Lys)
c.3161G>A (p.Arg1054Lys)
c.3065G>A (p.Arg1022Lys)
6g.43045228T>ACA364208155CUL7,KLC4n.1108A>T
c.3037A>T (p.Arg1013Ter)
n.3598A>T
c.*1334A>T (n.*1334A>T)
n.3320A>T
n.3614A>T
c.986A>T
n.3876A>T
c.3133A>T (p.Arg1045Ter)
c.1529A>T
c.-553+1720T>A (n.-553+1720T>A)
c.3289A>T (p.Arg1097Ter)
c.3193A>T (p.Arg1065Ter)
c.898A>T (p.Arg300Ter)
c.3316A>T (p.Arg1106Ter)
c.3220A>T (p.Arg1074Ter)
c.3160A>T (p.Arg1054Ter)
c.3064A>T (p.Arg1022Ter)
6g.43045228T>CCA364208158CUL7,KLC4n.1108A>G
c.3037A>G (p.Arg1013Gly)
n.3598A>G
c.*1334A>G (n.*1334A>G)
n.3320A>G
n.3614A>G
c.986A>G
n.3876A>G
c.3133A>G (p.Arg1045Gly)
c.1529A>G
c.-553+1720T>C (n.-553+1720T>C)
c.3289A>G (p.Arg1097Gly)
c.3193A>G (p.Arg1065Gly)
c.898A>G (p.Arg300Gly)
c.3316A>G (p.Arg1106Gly)
c.3220A>G (p.Arg1074Gly)
c.3160A>G (p.Arg1054Gly)
c.3064A>G (p.Arg1022Gly)
6g.43045228T>GCA450260322CUL7,KLC4n.1108A>C
c.3037A>C (p.Arg1013=)
n.3598A>C
c.*1334A>C (n.*1334A>C)
n.3320A>C
n.3614A>C
c.986A>C
n.3876A>C
c.3133A>C (p.Arg1045=)
c.1529A>C
c.-553+1720T>G (n.-553+1720T>G)
c.3289A>C (p.Arg1097=)
c.3193A>C (p.Arg1065=)
c.898A>C (p.Arg300=)
c.3316A>C (p.Arg1106=)
c.3220A>C (p.Arg1074=)
c.3160A>C (p.Arg1054=)
c.3064A>C (p.Arg1022=)
6g.43045229A>CCA450260323CUL7,KLC4n.1107T>G
c.3036T>G (p.Ser1012=)
n.3597T>G
c.*1333T>G (n.*1333T>G)
n.3319T>G
n.3613T>G
c.985T>G
n.3875T>G
c.3132T>G (p.Ser1044=)
c.1528T>G
c.-553+1721A>C (n.-553+1721A>C)
c.3288T>G (p.Ser1096=)
c.3192T>G (p.Ser1064=)
c.897T>G (p.Ser299=)
c.3315T>G (p.Ser1105=)
c.3219T>G (p.Ser1073=)
c.3159T>G (p.Ser1053=)
c.3063T>G (p.Ser1021=)
6g.43045229A>GCA450260324CUL7,KLC4n.1107T>C
c.3036T>C (p.Ser1012=)
n.3597T>C
c.*1333T>C (n.*1333T>C)
n.3319T>C
n.3613T>C
c.985T>C
n.3875T>C
c.3132T>C (p.Ser1044=)
c.1528T>C
c.-553+1721A>G (n.-553+1721A>G)
c.3288T>C (p.Ser1096=)
c.3192T>C (p.Ser1064=)
c.897T>C (p.Ser299=)
c.3315T>C (p.Ser1105=)
c.3219T>C (p.Ser1073=)
c.3159T>C (p.Ser1053=)
c.3063T>C (p.Ser1021=)
6g.43045229A>TCA450260325CUL7,KLC4n.1107T>A
c.3036T>A (p.Ser1012=)
n.3597T>A
c.*1333T>A (n.*1333T>A)
n.3319T>A
n.3613T>A
c.985T>A
n.3875T>A
c.3132T>A (p.Ser1044=)
c.1528T>A
c.-553+1721A>T (n.-553+1721A>T)
c.3288T>A (p.Ser1096=)
c.3192T>A (p.Ser1064=)
c.897T>A (p.Ser299=)
c.3315T>A (p.Ser1105=)
c.3219T>A (p.Ser1073=)
c.3159T>A (p.Ser1053=)
c.3063T>A (p.Ser1021=)
6g.43045230G>ACA364208162CUL7,KLC4n.1106C>T
c.3035C>T (p.Ser1012Phe)
n.3596C>T
c.*1332C>T (n.*1332C>T)
n.3318C>T
n.3612C>T
c.984C>T
n.3874C>T
c.3131C>T (p.Ser1044Phe)
c.1527C>T
c.-553+1722G>A (n.-553+1722G>A)
c.3287C>T (p.Ser1096Phe)
c.3191C>T (p.Ser1064Phe)
c.896C>T (p.Ser299Phe)
c.3314C>T (p.Ser1105Phe)
c.3218C>T (p.Ser1073Phe)
c.3158C>T (p.Ser1053Phe)
c.3062C>T (p.Ser1021Phe)
6g.43045230G>CCA364208165CUL7,KLC4n.1106C>G
c.3035C>G (p.Ser1012Cys)
n.3596C>G
c.*1332C>G (n.*1332C>G)
n.3318C>G
n.3612C>G
c.984C>G
n.3874C>G
c.3131C>G (p.Ser1044Cys)
c.1527C>G
c.-553+1722G>C (n.-553+1722G>C)
c.3287C>G (p.Ser1096Cys)
c.3191C>G (p.Ser1064Cys)
c.896C>G (p.Ser299Cys)
c.3314C>G (p.Ser1105Cys)
c.3218C>G (p.Ser1073Cys)
c.3158C>G (p.Ser1053Cys)
c.3062C>G (p.Ser1021Cys)
6g.43045230G>TCA364208168CUL7,KLC4n.1106C>A
c.3035C>A (p.Ser1012Tyr)
n.3596C>A
c.*1332C>A (n.*1332C>A)
n.3318C>A
n.3612C>A
c.984C>A
n.3874C>A
c.3131C>A (p.Ser1044Tyr)
c.1527C>A
c.-553+1722G>T (n.-553+1722G>T)
c.3287C>A (p.Ser1096Tyr)
c.3191C>A (p.Ser1064Tyr)
c.896C>A (p.Ser299Tyr)
c.3314C>A (p.Ser1105Tyr)
c.3218C>A (p.Ser1073Tyr)
c.3158C>A (p.Ser1053Tyr)
c.3062C>A (p.Ser1021Tyr)
6g.43045231A>CCA364208173CUL7,KLC4n.1105T>G
c.3034T>G (p.Ser1012Ala)
n.3595T>G
c.*1331T>G (n.*1331T>G)
n.3317T>G
n.3611T>G
c.983T>G
n.3873T>G
c.3130T>G (p.Ser1044Ala)
c.1526T>G
c.-553+1723A>C (n.-553+1723A>C)
c.3286T>G (p.Ser1096Ala)
c.3190T>G (p.Ser1064Ala)
c.895T>G (p.Ser299Ala)
c.3313T>G (p.Ser1105Ala)
c.3217T>G (p.Ser1073Ala)
c.3157T>G (p.Ser1053Ala)
c.3061T>G (p.Ser1021Ala)
6g.43045231A>GCA364208174CUL7,KLC4n.1105T>C
c.3034T>C (p.Ser1012Pro)
n.3595T>C
c.*1331T>C (n.*1331T>C)
n.3317T>C
n.3611T>C
c.983T>C
n.3873T>C
c.3130T>C (p.Ser1044Pro)
c.1526T>C
c.-553+1723A>G (n.-553+1723A>G)
c.3286T>C (p.Ser1096Pro)
c.3190T>C (p.Ser1064Pro)
c.895T>C (p.Ser299Pro)
c.3313T>C (p.Ser1105Pro)
c.3217T>C (p.Ser1073Pro)
c.3157T>C (p.Ser1053Pro)
c.3061T>C (p.Ser1021Pro)
6g.43045231A>TCA364208182CUL7,KLC4n.1105T>A
c.3034T>A (p.Ser1012Thr)
n.3595T>A
c.*1331T>A (n.*1331T>A)
n.3317T>A
n.3611T>A
c.983T>A
n.3873T>A
c.3130T>A (p.Ser1044Thr)
c.1526T>A
c.-553+1723A>T (n.-553+1723A>T)
c.3286T>A (p.Ser1096Thr)
c.3190T>A (p.Ser1064Thr)
c.895T>A (p.Ser299Thr)
c.3313T>A (p.Ser1105Thr)
c.3217T>A (p.Ser1073Thr)
c.3157T>A (p.Ser1053Thr)
c.3061T>A (p.Ser1021Thr)
6g.43045232A>CCA364208183CUL7,KLC4n.1104T>G
c.3033T>G (p.Ser1011Arg)
n.3594T>G
c.*1330T>G (n.*1330T>G)
n.3316T>G
n.3610T>G
c.982T>G
n.3872T>G
c.3129T>G (p.Ser1043Arg)
c.1525T>G
c.-553+1724A>C (n.-553+1724A>C)
c.3285T>G (p.Ser1095Arg)
c.3189T>G (p.Ser1063Arg)
c.894T>G (p.Ser298Arg)
c.3312T>G (p.Ser1104Arg)
c.3216T>G (p.Ser1072Arg)
c.3156T>G (p.Ser1052Arg)
c.3060T>G (p.Ser1020Arg)
6g.43045232A>GCA450260326CUL7,KLC4n.1104T>C
c.3033T>C (p.Ser1011=)
n.3594T>C
c.*1330T>C (n.*1330T>C)
n.3316T>C
n.3610T>C
c.982T>C
n.3872T>C
c.3129T>C (p.Ser1043=)
c.1525T>C
c.-553+1724A>G (n.-553+1724A>G)
c.3285T>C (p.Ser1095=)
c.3189T>C (p.Ser1063=)
c.894T>C (p.Ser298=)
c.3312T>C (p.Ser1104=)
c.3216T>C (p.Ser1072=)
c.3156T>C (p.Ser1052=)
c.3060T>C (p.Ser1020=)
6g.43045232A>TCA364208186CUL7,KLC4n.1104T>A
c.3033T>A (p.Ser1011Arg)
n.3594T>A
c.*1330T>A (n.*1330T>A)
n.3316T>A
n.3610T>A
c.982T>A
n.3872T>A
c.3129T>A (p.Ser1043Arg)
c.1525T>A
c.-553+1724A>T (n.-553+1724A>T)
c.3285T>A (p.Ser1095Arg)
c.3189T>A (p.Ser1063Arg)
c.894T>A (p.Ser298Arg)
c.3312T>A (p.Ser1104Arg)
c.3216T>A (p.Ser1072Arg)
c.3156T>A (p.Ser1052Arg)
c.3060T>A (p.Ser1020Arg)
6g.43045233C>ACA364208192CUL7,KLC4n.1103G>T
c.3032G>T (p.Ser1011Ile)
n.3593G>T
c.*1329G>T (n.*1329G>T)
n.3315G>T
n.3609G>T
c.981G>T
n.3871G>T
c.3128G>T (p.Ser1043Ile)
c.1524G>T
c.-553+1725C>A (n.-553+1725C>A)
c.3284G>T (p.Ser1095Ile)
c.3188G>T (p.Ser1063Ile)
c.893G>T (p.Ser298Ile)
c.3311G>T (p.Ser1104Ile)
c.3215G>T (p.Ser1072Ile)
c.3155G>T (p.Ser1052Ile)
c.3059G>T (p.Ser1020Ile)
6g.43045233C>GCA364208195CUL7,KLC4n.1103G>C
c.3032G>C (p.Ser1011Thr)
n.3593G>C
c.*1329G>C (n.*1329G>C)
n.3315G>C
n.3609G>C
c.981G>C
n.3871G>C
c.3128G>C (p.Ser1043Thr)
c.1524G>C
c.-553+1725C>G (n.-553+1725C>G)
c.3284G>C (p.Ser1095Thr)
c.3188G>C (p.Ser1063Thr)
c.893G>C (p.Ser298Thr)
c.3311G>C (p.Ser1104Thr)
c.3215G>C (p.Ser1072Thr)
c.3155G>C (p.Ser1052Thr)
c.3059G>C (p.Ser1020Thr)
6g.43045233C>TCA364208197CUL7,KLC4n.1103G>A
c.3032G>A (p.Ser1011Asn)
n.3593G>A
c.*1329G>A (n.*1329G>A)
n.3315G>A
n.3609G>A
c.981G>A
n.3871G>A
c.3128G>A (p.Ser1043Asn)
c.1524G>A
c.-553+1725C>T (n.-553+1725C>T)
c.3284G>A (p.Ser1095Asn)
c.3188G>A (p.Ser1063Asn)
c.893G>A (p.Ser298Asn)
c.3311G>A (p.Ser1104Asn)
c.3215G>A (p.Ser1072Asn)
c.3155G>A (p.Ser1052Asn)
c.3059G>A (p.Ser1020Asn)
 gnomAD v4
6g.43045234T>ACA364208202CUL7,KLC4n.1102A>T
c.3031A>T (p.Ser1011Cys)
n.3592A>T
c.*1328A>T (n.*1328A>T)
n.3314A>T
n.3608A>T
c.980A>T
n.3870A>T
c.3127A>T (p.Ser1043Cys)
c.1523A>T
c.-553+1726T>A (n.-553+1726T>A)
c.3283A>T (p.Ser1095Cys)
c.3187A>T (p.Ser1063Cys)
c.892A>T (p.Ser298Cys)
c.3310A>T (p.Ser1104Cys)
c.3214A>T (p.Ser1072Cys)
c.3154A>T (p.Ser1052Cys)
c.3058A>T (p.Ser1020Cys)
6g.43045234T>CCA364208207CUL7,KLC4n.1102A>G
c.3031A>G (p.Ser1011Gly)
n.3592A>G
c.*1328A>G (n.*1328A>G)
n.3314A>G
n.3608A>G
c.980A>G
n.3870A>G
c.3127A>G (p.Ser1043Gly)
c.1523A>G
c.-553+1726T>C (n.-553+1726T>C)
c.3283A>G (p.Ser1095Gly)
c.3187A>G (p.Ser1063Gly)
c.892A>G (p.Ser298Gly)
c.3310A>G (p.Ser1104Gly)
c.3214A>G (p.Ser1072Gly)
c.3154A>G (p.Ser1052Gly)
c.3058A>G (p.Ser1020Gly)
6g.43045234T>GCA364208210CUL7,KLC4n.1102A>C
c.3031A>C (p.Ser1011Arg)
n.3592A>C
c.*1328A>C (n.*1328A>C)
n.3314A>C
n.3608A>C
c.980A>C
n.3870A>C
c.3127A>C (p.Ser1043Arg)
c.1523A>C
c.-553+1726T>G (n.-553+1726T>G)
c.3283A>C (p.Ser1095Arg)
c.3187A>C (p.Ser1063Arg)
c.892A>C (p.Ser298Arg)
c.3310A>C (p.Ser1104Arg)
c.3214A>C (p.Ser1072Arg)
c.3154A>C (p.Ser1052Arg)
c.3058A>C (p.Ser1020Arg)
6g.43045235C>ACA450260332CUL7,KLC4n.1101G>T
c.3030G>T (p.Leu1010=)
n.3591G>T
c.*1327G>T (n.*1327G>T)
n.3313G>T
n.3607G>T
c.979G>T
n.3869G>T
c.3126G>T (p.Leu1042=)
c.1522G>T
c.-553+1727C>A (n.-553+1727C>A)
c.3282G>T (p.Leu1094=)
c.3186G>T (p.Leu1062=)
c.891G>T (p.Leu297=)
c.3309G>T (p.Leu1103=)
c.3213G>T (p.Leu1071=)
c.3153G>T (p.Leu1051=)
c.3057G>T (p.Leu1019=)
6g.43045235C>GCA450260331CUL7,KLC4n.1101G>C
c.3030G>C (p.Leu1010=)
n.3591G>C
c.*1327G>C (n.*1327G>C)
n.3313G>C
n.3607G>C
c.979G>C
n.3869G>C
c.3126G>C (p.Leu1042=)
c.1522G>C
c.-553+1727C>G (n.-553+1727C>G)
c.3282G>C (p.Leu1094=)
c.3186G>C (p.Leu1062=)
c.891G>C (p.Leu297=)
c.3309G>C (p.Leu1103=)
c.3213G>C (p.Leu1071=)
c.3153G>C (p.Leu1051=)
c.3057G>C (p.Leu1019=)
6g.43045235C>TCA450260330CUL7,KLC4n.1101G>A
c.3030G>A (p.Leu1010=)
n.3591G>A
c.*1327G>A (n.*1327G>A)
n.3313G>A
n.3607G>A
c.979G>A
n.3869G>A
c.3126G>A (p.Leu1042=)
c.1522G>A
c.-553+1727C>T (n.-553+1727C>T)
c.3282G>A (p.Leu1094=)
c.3186G>A (p.Leu1062=)
c.891G>A (p.Leu297=)
c.3309G>A (p.Leu1103=)
c.3213G>A (p.Leu1071=)
c.3153G>A (p.Leu1051=)
c.3057G>A (p.Leu1019=)
6g.43045236delCA2678807100CUL7,KLC4n.1100del
c.3029del (p.Leu1010ArgfsTer?)
n.3590del
c.*1326del (n.*1326del)
n.3312del
n.3606del
c.978del
n.3868del
c.3125del (p.Leu1042ArgfsTer?)
c.1521del
c.-553+1728del (n.-553+1728del)
c.3281del (p.Leu1094ArgfsTer?)
c.3185del (p.Leu1062ArgfsTer?)
c.890del (p.Leu297ArgfsTer?)
c.3308del (p.Leu1103ArgfsTer?)
c.3212del (p.Leu1071ArgfsTer?)
c.3152del (p.Leu1051ArgfsTer?)
c.3056del (p.Leu1019ArgfsTer?)
 gnomAD v4
6g.43045236A>CCA364208216CUL7,KLC4n.1100T>G
c.3029T>G (p.Leu1010Arg)
n.3590T>G
c.*1326T>G (n.*1326T>G)
n.3312T>G
n.3606T>G
c.978T>G
n.3868T>G
c.3125T>G (p.Leu1042Arg)
c.1521T>G
c.-553+1728A>C (n.-553+1728A>C)
c.3281T>G (p.Leu1094Arg)
c.3185T>G (p.Leu1062Arg)
c.890T>G (p.Leu297Arg)
c.3308T>G (p.Leu1103Arg)
c.3212T>G (p.Leu1071Arg)
c.3152T>G (p.Leu1051Arg)
c.3056T>G (p.Leu1019Arg)
6g.43045236A>GCA364208235CUL7,KLC4n.1100T>C
c.3029T>C (p.Leu1010Pro)
n.3590T>C
c.*1326T>C (n.*1326T>C)
n.3312T>C
n.3606T>C
c.978T>C
n.3868T>C
c.3125T>C (p.Leu1042Pro)
c.1521T>C
c.-553+1728A>G (n.-553+1728A>G)
c.3281T>C (p.Leu1094Pro)
c.3185T>C (p.Leu1062Pro)
c.890T>C (p.Leu297Pro)
c.3308T>C (p.Leu1103Pro)
c.3212T>C (p.Leu1071Pro)
c.3152T>C (p.Leu1051Pro)
c.3056T>C (p.Leu1019Pro)
6g.43045236A>TCA364208219CUL7,KLC4n.1100T>A
c.3029T>A (p.Leu1010Gln)
n.3590T>A
c.*1326T>A (n.*1326T>A)
n.3312T>A
n.3606T>A
c.978T>A
n.3868T>A
c.3125T>A (p.Leu1042Gln)
c.1521T>A
c.-553+1728A>T (n.-553+1728A>T)
c.3281T>A (p.Leu1094Gln)
c.3185T>A (p.Leu1062Gln)
c.890T>A (p.Leu297Gln)
c.3308T>A (p.Leu1103Gln)
c.3212T>A (p.Leu1071Gln)
c.3152T>A (p.Leu1051Gln)
c.3056T>A (p.Leu1019Gln)
6g.43045237G>ACA3813624CUL7,KLC4n.1099C>T
c.3028C>T (p.Leu1010=)
n.3589C>T
c.*1325C>T (n.*1325C>T)
n.3311C>T
n.3605C>T
c.977C>T
n.3867C>T
c.3124C>T (p.Leu1042=)
c.1520C>T
c.-553+1729G>A (n.-553+1729G>A)
c.3280C>T (p.Leu1094=)
c.3184C>T (p.Leu1062=)
c.889C>T (p.Leu297=)
c.3307C>T (p.Leu1103=)
c.3211C>T (p.Leu1071=)
c.3151C>T (p.Leu1051=)
c.3055C>T (p.Leu1019=)
 dbSNP ExAC gnomAD v2
6g.43045237G>CCA364208242CUL7,KLC4n.1099C>G
c.3028C>G (p.Leu1010Val)
n.3589C>G
c.*1325C>G (n.*1325C>G)
n.3311C>G
n.3605C>G
c.977C>G
n.3867C>G
c.3124C>G (p.Leu1042Val)
c.1520C>G
c.-553+1729G>C (n.-553+1729G>C)
c.3280C>G (p.Leu1094Val)
c.3184C>G (p.Leu1062Val)
c.889C>G (p.Leu297Val)
c.3307C>G (p.Leu1103Val)
c.3211C>G (p.Leu1071Val)
c.3151C>G (p.Leu1051Val)
c.3055C>G (p.Leu1019Val)
6g.43045237G=CA1624355881CUL7,KLC4n.1099C=
c.3028C= (p.Leu1010=)
n.3589C=
c.*1325C= (n.*1325C=)
n.3311C=
n.3605C=
c.977C=
n.3867C=
c.3124C= (p.Leu1042=)
c.1520C=
c.-553+1729G= (n.-553+1729G=)
c.3280C= (p.Leu1094=)
c.3184C= (p.Leu1062=)
c.889C= (p.Leu297=)
c.3307C= (p.Leu1103=)
c.3211C= (p.Leu1071=)
c.3151C= (p.Leu1051=)
c.3055C= (p.Leu1019=)
6g.43045237G>TCA364208246CUL7,KLC4n.1099C>A
c.3028C>A (p.Leu1010Met)
n.3589C>A
c.*1325C>A (n.*1325C>A)
n.3311C>A
n.3605C>A
c.977C>A
n.3867C>A
c.3124C>A (p.Leu1042Met)
c.1520C>A
c.-553+1729G>T (n.-553+1729G>T)
c.3280C>A (p.Leu1094Met)
c.3184C>A (p.Leu1062Met)
c.889C>A (p.Leu297Met)
c.3307C>A (p.Leu1103Met)
c.3211C>A (p.Leu1071Met)
c.3151C>A (p.Leu1051Met)
c.3055C>A (p.Leu1019Met)
6g.43045238G>ACA10626898CUL7,KLC4n.1098C>T
c.3027C>T (p.His1009=)
n.3588C>T
c.*1324C>T (n.*1324C>T)
n.3310C>T
n.3604C>T
c.976C>T
n.3866C>T
c.3123C>T (p.His1041=)
c.1519C>T
c.-553+1730G>A (n.-553+1730G>A)
c.3279C>T (p.His1093=)
c.3183C>T (p.His1061=)
c.888C>T (p.His296=)
c.3306C>T (p.His1102=)
c.3210C>T (p.His1070=)
c.3150C>T (p.His1050=)
c.3054C>T (p.His1018=)
 ClinVar dbSNP gnomAD v4
6g.43045238G>CCA364208252CUL7,KLC4n.1098C>G
c.3027C>G (p.His1009Gln)
n.3588C>G
c.*1324C>G (n.*1324C>G)
n.3310C>G
n.3604C>G
c.976C>G
n.3866C>G
c.3123C>G (p.His1041Gln)
c.1519C>G
c.-553+1730G>C (n.-553+1730G>C)
c.3279C>G (p.His1093Gln)
c.3183C>G (p.His1061Gln)
c.888C>G (p.His296Gln)
c.3306C>G (p.His1102Gln)
c.3210C>G (p.His1070Gln)
c.3150C>G (p.His1050Gln)
c.3054C>G (p.His1018Gln)
6g.43045238G=CA1624355882CUL7,KLC4n.1098C=
c.3027C= (p.His1009=)
n.3588C=
c.*1324C= (n.*1324C=)
n.3310C=
n.3604C=
c.976C=
n.3866C=
c.3123C= (p.His1041=)
c.1519C=
c.-553+1730G= (n.-553+1730G=)
c.3279C= (p.His1093=)
c.3183C= (p.His1061=)
c.888C= (p.His296=)
c.3306C= (p.His1102=)
c.3210C= (p.His1070=)
c.3150C= (p.His1050=)
c.3054C= (p.His1018=)
6g.43045238G>TCA364208256CUL7,KLC4n.1098C>A
c.3027C>A (p.His1009Gln)
n.3588C>A
c.*1324C>A (n.*1324C>A)
n.3310C>A
n.3604C>A
c.976C>A
n.3866C>A
c.3123C>A (p.His1041Gln)
c.1519C>A
c.-553+1730G>T (n.-553+1730G>T)
c.3279C>A (p.His1093Gln)
c.3183C>A (p.His1061Gln)
c.888C>A (p.His296Gln)
c.3306C>A (p.His1102Gln)
c.3210C>A (p.His1070Gln)
c.3150C>A (p.His1050Gln)
c.3054C>A (p.His1018Gln)
6g.43045239T>ACA364208261CUL7,KLC4n.1097A>T
c.3026A>T (p.His1009Leu)
n.3587A>T
c.*1323A>T (n.*1323A>T)
n.3309A>T
n.3603A>T
c.975A>T
n.3865A>T
c.3122A>T (p.His1041Leu)
c.1518A>T
c.-553+1731T>A (n.-553+1731T>A)
c.3278A>T (p.His1093Leu)
c.3182A>T (p.His1061Leu)
c.887A>T (p.His296Leu)
c.3305A>T (p.His1102Leu)
c.3209A>T (p.His1070Leu)
c.3149A>T (p.His1050Leu)
c.3053A>T (p.His1018Leu)
6g.43045239T>CCA364208264CUL7,KLC4n.1097A>G
c.3026A>G (p.His1009Arg)
n.3587A>G
c.*1323A>G (n.*1323A>G)
n.3309A>G
n.3603A>G
c.975A>G
n.3865A>G
c.3122A>G (p.His1041Arg)
c.1518A>G
c.-553+1731T>C (n.-553+1731T>C)
c.3278A>G (p.His1093Arg)
c.3182A>G (p.His1061Arg)
c.887A>G (p.His296Arg)
c.3305A>G (p.His1102Arg)
c.3209A>G (p.His1070Arg)
c.3149A>G (p.His1050Arg)
c.3053A>G (p.His1018Arg)
6g.43045239T>GCA364208276CUL7,KLC4n.1097A>C
c.3026A>C (p.His1009Pro)
n.3587A>C
c.*1323A>C (n.*1323A>C)
n.3309A>C
n.3603A>C
c.975A>C
n.3865A>C
c.3122A>C (p.His1041Pro)
c.1518A>C
c.-553+1731T>G (n.-553+1731T>G)
c.3278A>C (p.His1093Pro)
c.3182A>C (p.His1061Pro)
c.887A>C (p.His296Pro)
c.3305A>C (p.His1102Pro)
c.3209A>C (p.His1070Pro)
c.3149A>C (p.His1050Pro)
c.3053A>C (p.His1018Pro)
6g.43045240G>ACA364208279CUL7,KLC4n.1096C>T
c.3025C>T (p.His1009Tyr)
n.3586C>T
c.*1322C>T (n.*1322C>T)
n.3308C>T
n.3602C>T
c.974C>T
n.3864C>T
c.3121C>T (p.His1041Tyr)
c.1517C>T
c.-553+1732G>A (n.-553+1732G>A)
c.3277C>T (p.His1093Tyr)
c.3181C>T (p.His1061Tyr)
c.886C>T (p.His296Tyr)
c.3304C>T (p.His1102Tyr)
c.3208C>T (p.His1070Tyr)
c.3148C>T (p.His1050Tyr)
c.3052C>T (p.His1018Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43045240G>CCA364208281CUL7,KLC4n.1096C>G
c.3025C>G (p.His1009Asp)
n.3586C>G
c.*1322C>G (n.*1322C>G)
n.3308C>G
n.3602C>G
c.974C>G
n.3864C>G
c.3121C>G (p.His1041Asp)
c.1517C>G
c.-553+1732G>C (n.-553+1732G>C)
c.3277C>G (p.His1093Asp)
c.3181C>G (p.His1061Asp)
c.886C>G (p.His296Asp)
c.3304C>G (p.His1102Asp)
c.3208C>G (p.His1070Asp)
c.3148C>G (p.His1050Asp)
c.3052C>G (p.His1018Asp)
6g.43045240G=CA1624355883CUL7,KLC4n.1096C=
c.3025C= (p.His1009=)
n.3586C=
c.*1322C= (n.*1322C=)
n.3308C=
n.3602C=
c.974C=
n.3864C=
c.3121C= (p.His1041=)
c.1517C=
c.-553+1732G= (n.-553+1732G=)
c.3277C= (p.His1093=)
c.3181C= (p.His1061=)
c.886C= (p.His296=)
c.3304C= (p.His1102=)
c.3208C= (p.His1070=)
c.3148C= (p.His1050=)
c.3052C= (p.His1018=)
6g.43045240G>TCA364208283CUL7,KLC4n.1096C>A
c.3025C>A (p.His1009Asn)
n.3586C>A
c.*1322C>A (n.*1322C>A)
n.3308C>A
n.3602C>A
c.974C>A
n.3864C>A
c.3121C>A (p.His1041Asn)
c.1517C>A
c.-553+1732G>T (n.-553+1732G>T)
c.3277C>A (p.His1093Asn)
c.3181C>A (p.His1061Asn)
c.886C>A (p.His296Asn)
c.3304C>A (p.His1102Asn)
c.3208C>A (p.His1070Asn)
c.3148C>A (p.His1050Asn)
c.3052C>A (p.His1018Asn)
6g.43045241C>ACA450260342CUL7,KLC4n.1095G>T
c.3024G>T (p.Leu1008=)
n.3585G>T
c.*1321G>T (n.*1321G>T)
n.3307G>T
n.3601G>T
c.973G>T
n.3863G>T
c.3120G>T (p.Leu1040=)
c.1516G>T
c.-553+1733C>A (n.-553+1733C>A)
c.3276G>T (p.Leu1092=)
c.3180G>T (p.Leu1060=)
c.885G>T (p.Leu295=)
c.3303G>T (p.Leu1101=)
c.3207G>T (p.Leu1069=)
c.3147G>T (p.Leu1049=)
c.3051G>T (p.Leu1017=)
6g.43045241C=CA1624355884CUL7,KLC4n.1095G=
c.3024G= (p.Leu1008=)
n.3585G=
c.*1321G= (n.*1321G=)
n.3307G=
n.3601G=
c.973G=
n.3863G=
c.3120G= (p.Leu1040=)
c.1516G=
c.-553+1733C= (n.-553+1733C=)
c.3276G= (p.Leu1092=)
c.3180G= (p.Leu1060=)
c.885G= (p.Leu295=)
c.3303G= (p.Leu1101=)
c.3207G= (p.Leu1069=)
c.3147G= (p.Leu1049=)
c.3051G= (p.Leu1017=)
6g.43045241C>GCA450260343CUL7,KLC4n.1095G>C
c.3024G>C (p.Leu1008=)
n.3585G>C
c.*1321G>C (n.*1321G>C)
n.3307G>C
n.3601G>C
c.973G>C
n.3863G>C
c.3120G>C (p.Leu1040=)
c.1516G>C
c.-553+1733C>G (n.-553+1733C>G)
c.3276G>C (p.Leu1092=)
c.3180G>C (p.Leu1060=)
c.885G>C (p.Leu295=)
c.3303G>C (p.Leu1101=)
c.3207G>C (p.Leu1069=)
c.3147G>C (p.Leu1049=)
c.3051G>C (p.Leu1017=)
6g.43045241C>TCA450260344CUL7,KLC4n.1095G>A
c.3024G>A (p.Leu1008=)
n.3585G>A
c.*1321G>A (n.*1321G>A)
n.3307G>A
n.3601G>A
c.973G>A
n.3863G>A
c.3120G>A (p.Leu1040=)
c.1516G>A
c.-553+1733C>T (n.-553+1733C>T)
c.3276G>A (p.Leu1092=)
c.3180G>A (p.Leu1060=)
c.885G>A (p.Leu295=)
c.3303G>A (p.Leu1101=)
c.3207G>A (p.Leu1069=)
c.3147G>A (p.Leu1049=)
c.3051G>A (p.Leu1017=)
 ClinVar dbSNP gnomAD v4
6g.43045242A>CCA364208284CUL7,KLC4n.1094T>G
c.3023T>G (p.Leu1008Arg)
n.3584T>G
c.*1320T>G (n.*1320T>G)
n.3306T>G
n.3600T>G
c.972T>G
n.3862T>G
c.3119T>G (p.Leu1040Arg)
c.1515T>G
c.-553+1734A>C (n.-553+1734A>C)
c.3275T>G (p.Leu1092Arg)
c.3179T>G (p.Leu1060Arg)
c.884T>G (p.Leu295Arg)
c.3302T>G (p.Leu1101Arg)
c.3206T>G (p.Leu1069Arg)
c.3146T>G (p.Leu1049Arg)
c.3050T>G (p.Leu1017Arg)
6g.43045242A>GCA364208286CUL7,KLC4n.1094T>C
c.3023T>C (p.Leu1008Pro)
n.3584T>C
c.*1320T>C (n.*1320T>C)
n.3306T>C
n.3600T>C
c.972T>C
n.3862T>C
c.3119T>C (p.Leu1040Pro)
c.1515T>C
c.-553+1734A>G (n.-553+1734A>G)
c.3275T>C (p.Leu1092Pro)
c.3179T>C (p.Leu1060Pro)
c.884T>C (p.Leu295Pro)
c.3302T>C (p.Leu1101Pro)
c.3206T>C (p.Leu1069Pro)
c.3146T>C (p.Leu1049Pro)
c.3050T>C (p.Leu1017Pro)
6g.43045242A>TCA364208285CUL7,KLC4n.1094T>A
c.3023T>A (p.Leu1008Gln)
n.3584T>A
c.*1320T>A (n.*1320T>A)
n.3306T>A
n.3600T>A
c.972T>A
n.3862T>A
c.3119T>A (p.Leu1040Gln)
c.1515T>A
c.-553+1734A>T (n.-553+1734A>T)
c.3275T>A (p.Leu1092Gln)
c.3179T>A (p.Leu1060Gln)
c.884T>A (p.Leu295Gln)
c.3302T>A (p.Leu1101Gln)
c.3206T>A (p.Leu1069Gln)
c.3146T>A (p.Leu1049Gln)
c.3050T>A (p.Leu1017Gln)
6g.43045243G>ACA450260349CUL7,KLC4n.1093C>T
c.3022C>T (p.Leu1008=)
n.3583C>T
c.*1319C>T (n.*1319C>T)
n.3305C>T
n.3599C>T
c.971C>T
n.3861C>T
c.3118C>T (p.Leu1040=)
c.1514C>T
c.-553+1735G>A (n.-553+1735G>A)
c.3274C>T (p.Leu1092=)
c.3178C>T (p.Leu1060=)
c.883C>T (p.Leu295=)
c.3301C>T (p.Leu1101=)
c.3205C>T (p.Leu1069=)
c.3145C>T (p.Leu1049=)
c.3049C>T (p.Leu1017=)
6g.43045243G>CCA364208288CUL7,KLC4n.1093C>G
c.3022C>G (p.Leu1008Val)
n.3583C>G
c.*1319C>G (n.*1319C>G)
n.3305C>G
n.3599C>G
c.971C>G
n.3861C>G
c.3118C>G (p.Leu1040Val)
c.1514C>G
c.-553+1735G>C (n.-553+1735G>C)
c.3274C>G (p.Leu1092Val)
c.3178C>G (p.Leu1060Val)
c.883C>G (p.Leu295Val)
c.3301C>G (p.Leu1101Val)
c.3205C>G (p.Leu1069Val)
c.3145C>G (p.Leu1049Val)
c.3049C>G (p.Leu1017Val)
6g.43045243G>TCA364208290CUL7,KLC4n.1093C>A
c.3022C>A (p.Leu1008Met)
n.3583C>A
c.*1319C>A (n.*1319C>A)
n.3305C>A
n.3599C>A
c.971C>A
n.3861C>A
c.3118C>A (p.Leu1040Met)
c.1514C>A
c.-553+1735G>T (n.-553+1735G>T)
c.3274C>A (p.Leu1092Met)
c.3178C>A (p.Leu1060Met)
c.883C>A (p.Leu295Met)
c.3301C>A (p.Leu1101Met)
c.3205C>A (p.Leu1069Met)
c.3145C>A (p.Leu1049Met)
c.3049C>A (p.Leu1017Met)
6g.43045244G>ACA450260350CUL7,KLC4n.1092C>T
c.3021C>T (p.Leu1007=)
n.3582C>T
c.*1318C>T (n.*1318C>T)
n.3304C>T
n.3598C>T
c.970C>T
n.3860C>T
c.3117C>T (p.Leu1039=)
c.1513C>T
c.-553+1736G>A (n.-553+1736G>A)
c.3273C>T (p.Leu1091=)
c.3177C>T (p.Leu1059=)
c.882C>T (p.Leu294=)
c.3300C>T (p.Leu1100=)
c.3204C>T (p.Leu1068=)
c.3144C>T (p.Leu1048=)
c.3048C>T (p.Leu1016=)
6g.43045244G>CCA450260351CUL7,KLC4n.1092C>G
c.3021C>G (p.Leu1007=)
n.3582C>G
c.*1318C>G (n.*1318C>G)
n.3304C>G
n.3598C>G
c.970C>G
n.3860C>G
c.3117C>G (p.Leu1039=)
c.1513C>G
c.-553+1736G>C (n.-553+1736G>C)
c.3273C>G (p.Leu1091=)
c.3177C>G (p.Leu1059=)
c.882C>G (p.Leu294=)
c.3300C>G (p.Leu1100=)
c.3204C>G (p.Leu1068=)
c.3144C>G (p.Leu1048=)
c.3048C>G (p.Leu1016=)
6g.43045244G=CA1624355885CUL7,KLC4n.1092C=
c.3021C= (p.Leu1007=)
n.3582C=
c.*1318C= (n.*1318C=)
n.3304C=
n.3598C=
c.970C=
n.3860C=
c.3117C= (p.Leu1039=)
c.1513C=
c.-553+1736G= (n.-553+1736G=)
c.3273C= (p.Leu1091=)
c.3177C= (p.Leu1059=)
c.882C= (p.Leu294=)
c.3300C= (p.Leu1100=)
c.3204C= (p.Leu1068=)
c.3144C= (p.Leu1048=)
c.3048C= (p.Leu1016=)
6g.43045244G>TCA450260352CUL7,KLC4n.1092C>A
c.3021C>A (p.Leu1007=)
n.3582C>A
c.*1318C>A (n.*1318C>A)
n.3304C>A
n.3598C>A
c.970C>A
n.3860C>A
c.3117C>A (p.Leu1039=)
c.1513C>A
c.-553+1736G>T (n.-553+1736G>T)
c.3273C>A (p.Leu1091=)
c.3177C>A (p.Leu1059=)
c.882C>A (p.Leu294=)
c.3300C>A (p.Leu1100=)
c.3204C>A (p.Leu1068=)
c.3144C>A (p.Leu1048=)
c.3048C>A (p.Leu1016=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43045245A>CCA364208306CUL7,KLC4n.1091T>G
c.3020T>G (p.Leu1007Arg)
n.3581T>G
c.*1317T>G (n.*1317T>G)
n.3303T>G
n.3597T>G
c.969T>G
n.3859T>G
c.3116T>G (p.Leu1039Arg)
c.1512T>G
c.-553+1737A>C (n.-553+1737A>C)
c.3272T>G (p.Leu1091Arg)
c.3176T>G (p.Leu1059Arg)
c.881T>G (p.Leu294Arg)
c.3299T>G (p.Leu1100Arg)
c.3203T>G (p.Leu1068Arg)
c.3143T>G (p.Leu1048Arg)
c.3047T>G (p.Leu1016Arg)
6g.43045245A>GCA364208310CUL7,KLC4n.1091T>C
c.3020T>C (p.Leu1007Pro)
n.3581T>C
c.*1317T>C (n.*1317T>C)
n.3303T>C
n.3597T>C
c.969T>C
n.3859T>C
c.3116T>C (p.Leu1039Pro)
c.1512T>C
c.-553+1737A>G (n.-553+1737A>G)
c.3272T>C (p.Leu1091Pro)
c.3176T>C (p.Leu1059Pro)
c.881T>C (p.Leu294Pro)
c.3299T>C (p.Leu1100Pro)
c.3203T>C (p.Leu1068Pro)
c.3143T>C (p.Leu1048Pro)
c.3047T>C (p.Leu1016Pro)
6g.43045245A>TCA364208313CUL7,KLC4n.1091T>A
c.3020T>A (p.Leu1007His)
n.3581T>A
c.*1317T>A (n.*1317T>A)
n.3303T>A
n.3597T>A
c.969T>A
n.3859T>A
c.3116T>A (p.Leu1039His)
c.1512T>A
c.-553+1737A>T (n.-553+1737A>T)
c.3272T>A (p.Leu1091His)
c.3176T>A (p.Leu1059His)
c.881T>A (p.Leu294His)
c.3299T>A (p.Leu1100His)
c.3203T>A (p.Leu1068His)
c.3143T>A (p.Leu1048His)
c.3047T>A (p.Leu1016His)
6g.43045246G>ACA364208316CUL7,KLC4n.1090C>T
c.3019C>T (p.Leu1007Phe)
n.3580C>T
c.*1316C>T (n.*1316C>T)
n.3302C>T
n.3596C>T
c.968C>T
n.3858C>T
c.3115C>T (p.Leu1039Phe)
c.1511C>T
c.-553+1738G>A (n.-553+1738G>A)
c.3271C>T (p.Leu1091Phe)
c.3175C>T (p.Leu1059Phe)
c.880C>T (p.Leu294Phe)
c.3298C>T (p.Leu1100Phe)
c.3202C>T (p.Leu1068Phe)
c.3142C>T (p.Leu1048Phe)
c.3046C>T (p.Leu1016Phe)
6g.43045246G>CCA364208319CUL7,KLC4n.1090C>G
c.3019C>G (p.Leu1007Val)
n.3580C>G
c.*1316C>G (n.*1316C>G)
n.3302C>G
n.3596C>G
c.968C>G
n.3858C>G
c.3115C>G (p.Leu1039Val)
c.1511C>G
c.-553+1738G>C (n.-553+1738G>C)
c.3271C>G (p.Leu1091Val)
c.3175C>G (p.Leu1059Val)
c.880C>G (p.Leu294Val)
c.3298C>G (p.Leu1100Val)
c.3202C>G (p.Leu1068Val)
c.3142C>G (p.Leu1048Val)
c.3046C>G (p.Leu1016Val)
6g.43045246G>TCA364208321CUL7,KLC4n.1090C>A
c.3019C>A (p.Leu1007Ile)
n.3580C>A
c.*1316C>A (n.*1316C>A)
n.3302C>A
n.3596C>A
c.968C>A
n.3858C>A
c.3115C>A (p.Leu1039Ile)
c.1511C>A
c.-553+1738G>T (n.-553+1738G>T)
c.3271C>A (p.Leu1091Ile)
c.3175C>A (p.Leu1059Ile)
c.880C>A (p.Leu294Ile)
c.3298C>A (p.Leu1100Ile)
c.3202C>A (p.Leu1068Ile)
c.3142C>A (p.Leu1048Ile)
c.3046C>A (p.Leu1016Ile)
6g.43045247G>ACA450260359CUL7,KLC4n.1089C>T
c.3018C>T (p.Ser1006=)
n.3579C>T
c.*1315C>T (n.*1315C>T)
n.3301C>T
n.3595C>T
c.967C>T
n.3857C>T
c.3114C>T (p.Ser1038=)
c.1510C>T
c.-553+1739G>A (n.-553+1739G>A)
c.3270C>T (p.Ser1090=)
c.3174C>T (p.Ser1058=)
c.879C>T (p.Ser293=)
c.3297C>T (p.Ser1099=)
c.3201C>T (p.Ser1067=)
c.3141C>T (p.Ser1047=)
c.3045C>T (p.Ser1015=)
6g.43045247G>CCA364208325CUL7,KLC4n.1089C>G
c.3018C>G (p.Ser1006Arg)
n.3579C>G
c.*1315C>G (n.*1315C>G)
n.3301C>G
n.3595C>G
c.967C>G
n.3857C>G
c.3114C>G (p.Ser1038Arg)
c.1510C>G
c.-553+1739G>C (n.-553+1739G>C)
c.3270C>G (p.Ser1090Arg)
c.3174C>G (p.Ser1058Arg)
c.879C>G (p.Ser293Arg)
c.3297C>G (p.Ser1099Arg)
c.3201C>G (p.Ser1067Arg)
c.3141C>G (p.Ser1047Arg)
c.3045C>G (p.Ser1015Arg)
6g.43045247G=CA1624355886CUL7,KLC4n.1089C=
c.3018C= (p.Ser1006=)
n.3579C=
c.*1315C= (n.*1315C=)
n.3301C=
n.3595C=
c.967C=
n.3857C=
c.3114C= (p.Ser1038=)
c.1510C=
c.-553+1739G= (n.-553+1739G=)
c.3270C= (p.Ser1090=)
c.3174C= (p.Ser1058=)
c.879C= (p.Ser293=)
c.3297C= (p.Ser1099=)
c.3201C= (p.Ser1067=)
c.3141C= (p.Ser1047=)
c.3045C= (p.Ser1015=)
6g.43045247G>TCA364208337CUL7,KLC4n.1089C>A
c.3018C>A (p.Ser1006Arg)
n.3579C>A
c.*1315C>A (n.*1315C>A)
n.3301C>A
n.3595C>A
c.967C>A
n.3857C>A
c.3114C>A (p.Ser1038Arg)
c.1510C>A
c.-553+1739G>T (n.-553+1739G>T)
c.3270C>A (p.Ser1090Arg)
c.3174C>A (p.Ser1058Arg)
c.879C>A (p.Ser293Arg)
c.3297C>A (p.Ser1099Arg)
c.3201C>A (p.Ser1067Arg)
c.3141C>A (p.Ser1047Arg)
c.3045C>A (p.Ser1015Arg)
 dbSNP
6g.43045248C>ACA364208342CUL7,KLC4n.1088G>T
c.3017G>T (p.Ser1006Ile)
n.3578G>T
c.*1314G>T (n.*1314G>T)
n.3300G>T
n.3594G>T
c.966G>T
n.3856G>T
c.3113G>T (p.Ser1038Ile)
c.1509G>T
c.-553+1740C>A (n.-553+1740C>A)
c.3269G>T (p.Ser1090Ile)
c.3173G>T (p.Ser1058Ile)
c.878G>T (p.Ser293Ile)
c.3296G>T (p.Ser1099Ile)
c.3200G>T (p.Ser1067Ile)
c.3140G>T (p.Ser1047Ile)
c.3044G>T (p.Ser1015Ile)
6g.43045248C>GCA364208345CUL7,KLC4n.1088G>C
c.3017G>C (p.Ser1006Thr)
n.3578G>C
c.*1314G>C (n.*1314G>C)
n.3300G>C
n.3594G>C
c.966G>C
n.3856G>C
c.3113G>C (p.Ser1038Thr)
c.1509G>C
c.-553+1740C>G (n.-553+1740C>G)
c.3269G>C (p.Ser1090Thr)
c.3173G>C (p.Ser1058Thr)
c.878G>C (p.Ser293Thr)
c.3296G>C (p.Ser1099Thr)
c.3200G>C (p.Ser1067Thr)
c.3140G>C (p.Ser1047Thr)
c.3044G>C (p.Ser1015Thr)
6g.43045248C>TCA364208347CUL7,KLC4n.1088G>A
c.3017G>A (p.Ser1006Asn)
n.3578G>A
c.*1314G>A (n.*1314G>A)
n.3300G>A
n.3594G>A
c.966G>A
n.3856G>A
c.3113G>A (p.Ser1038Asn)
c.1509G>A
c.-553+1740C>T (n.-553+1740C>T)
c.3269G>A (p.Ser1090Asn)
c.3173G>A (p.Ser1058Asn)
c.878G>A (p.Ser293Asn)
c.3296G>A (p.Ser1099Asn)
c.3200G>A (p.Ser1067Asn)
c.3140G>A (p.Ser1047Asn)
c.3044G>A (p.Ser1015Asn)
6g.43045249T>ACA364208355CUL7,KLC4n.1087A>T
c.3016A>T (p.Ser1006Cys)
n.3577A>T
c.*1313A>T (n.*1313A>T)
n.3299A>T
n.3593A>T
c.965A>T
n.3855A>T
c.3112A>T (p.Ser1038Cys)
c.1508A>T
c.-553+1741T>A (n.-553+1741T>A)
c.3268A>T (p.Ser1090Cys)
c.3172A>T (p.Ser1058Cys)
c.877A>T (p.Ser293Cys)
c.3295A>T (p.Ser1099Cys)
c.3199A>T (p.Ser1067Cys)
c.3139A>T (p.Ser1047Cys)
c.3043A>T (p.Ser1015Cys)
6g.43045249T>CCA364208349CUL7,KLC4n.1087A>G
c.3016A>G (p.Ser1006Gly)
n.3577A>G
c.*1313A>G (n.*1313A>G)
n.3299A>G
n.3593A>G
c.965A>G
n.3855A>G
c.3112A>G (p.Ser1038Gly)
c.1508A>G
c.-553+1741T>C (n.-553+1741T>C)
c.3268A>G (p.Ser1090Gly)
c.3172A>G (p.Ser1058Gly)
c.877A>G (p.Ser293Gly)
c.3295A>G (p.Ser1099Gly)
c.3199A>G (p.Ser1067Gly)
c.3139A>G (p.Ser1047Gly)
c.3043A>G (p.Ser1015Gly)
6g.43045249T>GCA364208351CUL7,KLC4n.1087A>C
c.3016A>C (p.Ser1006Arg)
n.3577A>C
c.*1313A>C (n.*1313A>C)
n.3299A>C
n.3593A>C
c.965A>C
n.3855A>C
c.3112A>C (p.Ser1038Arg)
c.1508A>C
c.-553+1741T>G (n.-553+1741T>G)
c.3268A>C (p.Ser1090Arg)
c.3172A>C (p.Ser1058Arg)
c.877A>C (p.Ser293Arg)
c.3295A>C (p.Ser1099Arg)
c.3199A>C (p.Ser1067Arg)
c.3139A>C (p.Ser1047Arg)
c.3043A>C (p.Ser1015Arg)
6g.43045250C>ACA364208357CUL7,KLC4n.1086G>T
c.3015G>T (p.Arg1005Ser)
n.3576G>T
c.*1312G>T (n.*1312G>T)
n.3298G>T
n.3592G>T
c.964G>T
n.3854G>T
c.3111G>T (p.Arg1037Ser)
c.1507G>T
c.-553+1742C>A (n.-553+1742C>A)
c.3267G>T (p.Arg1089Ser)
c.3171G>T (p.Arg1057Ser)
c.876G>T (p.Arg292Ser)
c.3294G>T (p.Arg1098Ser)
c.3198G>T (p.Arg1066Ser)
c.3138G>T (p.Arg1046Ser)
c.3042G>T (p.Arg1014Ser)
6g.43045250C=CA1624355887CUL7,KLC4n.1086G=
c.3015G= (p.Arg1005=)
n.3576G=
c.*1312G= (n.*1312G=)
n.3298G=
n.3592G=
c.964G=
n.3854G=
c.3111G= (p.Arg1037=)
c.1507G=
c.-553+1742C= (n.-553+1742C=)
c.3267G= (p.Arg1089=)
c.3171G= (p.Arg1057=)
c.876G= (p.Arg292=)
c.3294G= (p.Arg1098=)
c.3198G= (p.Arg1066=)
c.3138G= (p.Arg1046=)
c.3042G= (p.Arg1014=)
6g.43045250C>GCA364208361CUL7,KLC4n.1086G>C
c.3015G>C (p.Arg1005Ser)
n.3576G>C
c.*1312G>C (n.*1312G>C)
n.3298G>C
n.3592G>C
c.964G>C
n.3854G>C
c.3111G>C (p.Arg1037Ser)
c.1507G>C
c.-553+1742C>G (n.-553+1742C>G)
c.3267G>C (p.Arg1089Ser)
c.3171G>C (p.Arg1057Ser)
c.876G>C (p.Arg292Ser)
c.3294G>C (p.Arg1098Ser)
c.3198G>C (p.Arg1066Ser)
c.3138G>C (p.Arg1046Ser)
c.3042G>C (p.Arg1014Ser)
6g.43045250C>TCA3813625CUL7,KLC4n.1086G>A
c.3015G>A (p.Arg1005=)
n.3576G>A
c.*1312G>A (n.*1312G>A)
n.3298G>A
n.3592G>A
c.964G>A
n.3854G>A
c.3111G>A (p.Arg1037=)
c.1507G>A
c.-553+1742C>T (n.-553+1742C>T)
c.3267G>A (p.Arg1089=)
c.3171G>A (p.Arg1057=)
c.876G>A (p.Arg292=)
c.3294G>A (p.Arg1098=)
c.3198G>A (p.Arg1066=)
c.3138G>A (p.Arg1046=)
c.3042G>A (p.Arg1014=)
 dbSNP ExAC gnomAD v2
6g.43045250_43045260delinsCCTGCGGTCCTCA1624355888CUL7,KLC4n.1076_1086delinsAGGACCGCAGG
c.3005_3015delinsAGGACCGCAGG (p.Glu1002=)
n.3566_3576delinsAGGACCGCAGG
c.*1302_*1312delinsAGGACCGCAGG (n.*1302_*1312delinsAGGACCGCAGG)
n.3288_3298delinsAGGACCGCAGG
n.3582_3592delinsAGGACCGCAGG
c.954_964delinsAGGACCGCAGG
n.3844_3854delinsAGGACCGCAGG
c.3101_3111delinsAGGACCGCAGG (p.Glu1034=)
c.1497_1507delinsAGGACCGCAGG
c.-553+1742_-553+1752delinsCCTGCGGTCCT (n.-553+1742_-553+1752delinsCCTGCGGTCCT)
c.3257_3267delinsAGGACCGCAGG (p.Glu1086=)
c.3161_3171delinsAGGACCGCAGG (p.Glu1054=)
c.866_876delinsAGGACCGCAGG (p.Glu289=)
c.3284_3294delinsAGGACCGCAGG (p.Glu1095=)
c.3188_3198delinsAGGACCGCAGG (p.Glu1063=)
c.3128_3138delinsAGGACCGCAGG (p.Glu1043=)
c.3032_3042delinsAGGACCGCAGG (p.Glu1011=)
6g.43045251C>ACA364208380CUL7,KLC4n.1085G>T
c.3014G>T (p.Arg1005Met)
n.3575G>T
c.*1311G>T (n.*1311G>T)
n.3297G>T
n.3591G>T
c.963G>T
n.3853G>T
c.3110G>T (p.Arg1037Met)
c.1506G>T
c.-553+1743C>A (n.-553+1743C>A)
c.3266G>T (p.Arg1089Met)
c.3170G>T (p.Arg1057Met)
c.875G>T (p.Arg292Met)
c.3293G>T (p.Arg1098Met)
c.3197G>T (p.Arg1066Met)
c.3137G>T (p.Arg1046Met)
c.3041G>T (p.Arg1014Met)
6g.43045251C>GCA364208382CUL7,KLC4n.1085G>C
c.3014G>C (p.Arg1005Thr)
n.3575G>C
c.*1311G>C (n.*1311G>C)
n.3297G>C
n.3591G>C
c.963G>C
n.3853G>C
c.3110G>C (p.Arg1037Thr)
c.1506G>C
c.-553+1743C>G (n.-553+1743C>G)
c.3266G>C (p.Arg1089Thr)
c.3170G>C (p.Arg1057Thr)
c.875G>C (p.Arg292Thr)
c.3293G>C (p.Arg1098Thr)
c.3197G>C (p.Arg1066Thr)
c.3137G>C (p.Arg1046Thr)
c.3041G>C (p.Arg1014Thr)
6g.43045251C>TCA364208392CUL7,KLC4n.1085G>A
c.3014G>A (p.Arg1005Lys)
n.3575G>A
c.*1311G>A (n.*1311G>A)
n.3297G>A
n.3591G>A
c.963G>A
n.3853G>A
c.3110G>A (p.Arg1037Lys)
c.1506G>A
c.-553+1743C>T (n.-553+1743C>T)
c.3266G>A (p.Arg1089Lys)
c.3170G>A (p.Arg1057Lys)
c.875G>A (p.Arg292Lys)
c.3293G>A (p.Arg1098Lys)
c.3197G>A (p.Arg1066Lys)
c.3137G>A (p.Arg1046Lys)
c.3041G>A (p.Arg1014Lys)
6g.43045255_43045264delCA824882440CUL7,KLC4n.1076_1085del
c.3005_3014del (p.Glu1002GlyfsTer6)
n.3566_3575del
c.*1302_*1311del (n.*1302_*1311del)
n.3288_3297del
n.3582_3591del
c.954_963del
n.3844_3853del
c.3101_3110del (p.Glu1034GlyfsTer6)
c.1497_1506del
c.-553+1747_-553+1756del (n.-553+1747_-553+1756del)
c.3257_3266del (p.Glu1086GlyfsTer6)
c.3161_3170del (p.Glu1054GlyfsTer6)
c.866_875del (p.Glu289GlyfsTer6)
c.3284_3293del (p.Glu1095GlyfsTer6)
c.3188_3197del (p.Glu1063GlyfsTer6)
c.3128_3137del (p.Glu1043GlyfsTer6)
c.3032_3041del (p.Glu1011GlyfsTer6)
 dbSNP
6g.43045252T>ACA364208395CUL7,KLC4n.1084A>T
c.3013A>T (p.Arg1005Trp)
n.3574A>T
c.*1310A>T (n.*1310A>T)
n.3296A>T
n.3590A>T
c.962A>T
n.3852A>T
c.3109A>T (p.Arg1037Trp)
c.1505A>T
c.-553+1744T>A (n.-553+1744T>A)
c.3265A>T (p.Arg1089Trp)
c.3169A>T (p.Arg1057Trp)
c.874A>T (p.Arg292Trp)
c.3292A>T (p.Arg1098Trp)
c.3196A>T (p.Arg1066Trp)
c.3136A>T (p.Arg1046Trp)
c.3040A>T (p.Arg1014Trp)
6g.43045252T>CCA364208401CUL7,KLC4n.1084A>G
c.3013A>G (p.Arg1005Gly)
n.3574A>G
c.*1310A>G (n.*1310A>G)
n.3296A>G
n.3590A>G
c.962A>G
n.3852A>G
c.3109A>G (p.Arg1037Gly)
c.1505A>G
c.-553+1744T>C (n.-553+1744T>C)
c.3265A>G (p.Arg1089Gly)
c.3169A>G (p.Arg1057Gly)
c.874A>G (p.Arg292Gly)
c.3292A>G (p.Arg1098Gly)
c.3196A>G (p.Arg1066Gly)
c.3136A>G (p.Arg1046Gly)
c.3040A>G (p.Arg1014Gly)
6g.43045252T>GCA450260373CUL7,KLC4n.1084A>C
c.3013A>C (p.Arg1005=)
n.3574A>C
c.*1310A>C (n.*1310A>C)
n.3296A>C
n.3590A>C
c.962A>C
n.3852A>C
c.3109A>C (p.Arg1037=)
c.1505A>C
c.-553+1744T>G (n.-553+1744T>G)
c.3265A>C (p.Arg1089=)
c.3169A>C (p.Arg1057=)
c.874A>C (p.Arg292=)
c.3292A>C (p.Arg1098=)
c.3196A>C (p.Arg1066=)
c.3136A>C (p.Arg1046=)
c.3040A>C (p.Arg1014=)
6g.43045253G>ACA450260374CUL7,KLC4n.1083C>T
c.3012C>T (p.Arg1004=)
n.3573C>T
c.*1309C>T (n.*1309C>T)
n.3295C>T
n.3589C>T
c.961C>T
n.3851C>T
c.3108C>T (p.Arg1036=)
c.1504C>T
c.-553+1745G>A (n.-553+1745G>A)
c.3264C>T (p.Arg1088=)
c.3168C>T (p.Arg1056=)
c.873C>T (p.Arg291=)
c.3291C>T (p.Arg1097=)
c.3195C>T (p.Arg1065=)
c.3135C>T (p.Arg1045=)
c.3039C>T (p.Arg1013=)
6g.43045253G>CCA450260376CUL7,KLC4n.1083C>G
c.3012C>G (p.Arg1004=)
n.3573C>G
c.*1309C>G (n.*1309C>G)
n.3295C>G
n.3589C>G
c.961C>G
n.3851C>G
c.3108C>G (p.Arg1036=)
c.1504C>G
c.-553+1745G>C (n.-553+1745G>C)
c.3264C>G (p.Arg1088=)
c.3168C>G (p.Arg1056=)
c.873C>G (p.Arg291=)
c.3291C>G (p.Arg1097=)
c.3195C>G (p.Arg1065=)
c.3135C>G (p.Arg1045=)
c.3039C>G (p.Arg1013=)
6g.43045253G>TCA450260375CUL7,KLC4n.1083C>A
c.3012C>A (p.Arg1004=)
n.3573C>A
c.*1309C>A (n.*1309C>A)
n.3295C>A
n.3589C>A
c.961C>A
n.3851C>A
c.3108C>A (p.Arg1036=)
c.1504C>A
c.-553+1745G>T (n.-553+1745G>T)
c.3264C>A (p.Arg1088=)
c.3168C>A (p.Arg1056=)
c.873C>A (p.Arg291=)
c.3291C>A (p.Arg1097=)
c.3195C>A (p.Arg1065=)
c.3135C>A (p.Arg1045=)
c.3039C>A (p.Arg1013=)
6g.43045254C>ACA364208404CUL7,KLC4n.1082G>T
c.3011G>T (p.Arg1004Leu)
n.3572G>T
c.*1308G>T (n.*1308G>T)
n.3294G>T
n.3588G>T
c.960G>T
n.3850G>T
c.3107G>T (p.Arg1036Leu)
c.1503G>T
c.-553+1746C>A (n.-553+1746C>A)
c.3263G>T (p.Arg1088Leu)
c.3167G>T (p.Arg1056Leu)
c.872G>T (p.Arg291Leu)
c.3290G>T (p.Arg1097Leu)
c.3194G>T (p.Arg1065Leu)
c.3134G>T (p.Arg1045Leu)
c.3038G>T (p.Arg1013Leu)
6g.43045254C=CA1624355889CUL7,KLC4n.1082G=
c.3011G= (p.Arg1004=)
n.3572G=
c.*1308G= (n.*1308G=)
n.3294G=
n.3588G=
c.960G=
n.3850G=
c.3107G= (p.Arg1036=)
c.1503G=
c.-553+1746C= (n.-553+1746C=)
c.3263G= (p.Arg1088=)
c.3167G= (p.Arg1056=)
c.872G= (p.Arg291=)
c.3290G= (p.Arg1097=)
c.3194G= (p.Arg1065=)
c.3134G= (p.Arg1045=)
c.3038G= (p.Arg1013=)
6g.43045254C>GCA364208407CUL7,KLC4n.1082G>C
c.3011G>C (p.Arg1004Pro)
n.3572G>C
c.*1308G>C (n.*1308G>C)
n.3294G>C
n.3588G>C
c.960G>C
n.3850G>C
c.3107G>C (p.Arg1036Pro)
c.1503G>C
c.-553+1746C>G (n.-553+1746C>G)
c.3263G>C (p.Arg1088Pro)
c.3167G>C (p.Arg1056Pro)
c.872G>C (p.Arg291Pro)
c.3290G>C (p.Arg1097Pro)
c.3194G>C (p.Arg1065Pro)
c.3134G>C (p.Arg1045Pro)
c.3038G>C (p.Arg1013Pro)
6g.43045254C>TCA3813626CUL7,KLC4n.1082G>A
c.3011G>A (p.Arg1004His)
n.3572G>A
c.*1308G>A (n.*1308G>A)
n.3294G>A
n.3588G>A
c.960G>A
n.3850G>A
c.3107G>A (p.Arg1036His)
c.1503G>A
c.-553+1746C>T (n.-553+1746C>T)
c.3263G>A (p.Arg1088His)
c.3167G>A (p.Arg1056His)
c.872G>A (p.Arg291His)
c.3290G>A (p.Arg1097His)
c.3194G>A (p.Arg1065His)
c.3134G>A (p.Arg1045His)
c.3038G>A (p.Arg1013His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045255G>ACA3813627CUL7,KLC4n.1081C>T
c.3010C>T (p.Arg1004Cys)
n.3571C>T
c.*1307C>T (n.*1307C>T)
n.3293C>T
n.3587C>T
c.959C>T
n.3849C>T
c.3106C>T (p.Arg1036Cys)
c.1502C>T
c.-553+1747G>A (n.-553+1747G>A)
c.3262C>T (p.Arg1088Cys)
c.3166C>T (p.Arg1056Cys)
c.871C>T (p.Arg291Cys)
c.3289C>T (p.Arg1097Cys)
c.3193C>T (p.Arg1065Cys)
c.3133C>T (p.Arg1045Cys)
c.3037C>T (p.Arg1013Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045255G>CCA364208428CUL7,KLC4n.1081C>G
c.3010C>G (p.Arg1004Gly)
n.3571C>G
c.*1307C>G (n.*1307C>G)
n.3293C>G
n.3587C>G
c.959C>G
n.3849C>G
c.3106C>G (p.Arg1036Gly)
c.1502C>G
c.-553+1747G>C (n.-553+1747G>C)
c.3262C>G (p.Arg1088Gly)
c.3166C>G (p.Arg1056Gly)
c.871C>G (p.Arg291Gly)
c.3289C>G (p.Arg1097Gly)
c.3193C>G (p.Arg1065Gly)
c.3133C>G (p.Arg1045Gly)
c.3037C>G (p.Arg1013Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.43045255G=CA1624355890CUL7,KLC4n.1081C=
c.3010C= (p.Arg1004=)
n.3571C=
c.*1307C= (n.*1307C=)
n.3293C=
n.3587C=
c.959C=
n.3849C=
c.3106C= (p.Arg1036=)
c.1502C=
c.-553+1747G= (n.-553+1747G=)
c.3262C= (p.Arg1088=)
c.3166C= (p.Arg1056=)
c.871C= (p.Arg291=)
c.3289C= (p.Arg1097=)
c.3193C= (p.Arg1065=)
c.3133C= (p.Arg1045=)
c.3037C= (p.Arg1013=)
6g.43045255G>TCA364208423CUL7,KLC4n.1081C>A
c.3010C>A (p.Arg1004Ser)
n.3571C>A
c.*1307C>A (n.*1307C>A)
n.3293C>A
n.3587C>A
c.959C>A
n.3849C>A
c.3106C>A (p.Arg1036Ser)
c.1502C>A
c.-553+1747G>T (n.-553+1747G>T)
c.3262C>A (p.Arg1088Ser)
c.3166C>A (p.Arg1056Ser)
c.871C>A (p.Arg291Ser)
c.3289C>A (p.Arg1097Ser)
c.3193C>A (p.Arg1065Ser)
c.3133C>A (p.Arg1045Ser)
c.3037C>A (p.Arg1013Ser)
6g.43045256G>ACA450260379CUL7,KLC4n.1080C>T
c.3009C>T (p.Asp1003=)
n.3570C>T
c.*1306C>T (n.*1306C>T)
n.3292C>T
n.3586C>T
c.958C>T
n.3848C>T
c.3105C>T (p.Asp1035=)
c.1501C>T
c.-553+1748G>A (n.-553+1748G>A)
c.3261C>T (p.Asp1087=)
c.3165C>T (p.Asp1055=)
c.870C>T (p.Asp290=)
c.3288C>T (p.Asp1096=)
c.3192C>T (p.Asp1064=)
c.3132C>T (p.Asp1044=)
c.3036C>T (p.Asp1012=)
6g.43045256G>CCA364208431CUL7,KLC4n.1080C>G
c.3009C>G (p.Asp1003Glu)
n.3570C>G
c.*1306C>G (n.*1306C>G)
n.3292C>G
n.3586C>G
c.958C>G
n.3848C>G
c.3105C>G (p.Asp1035Glu)
c.1501C>G
c.-553+1748G>C (n.-553+1748G>C)
c.3261C>G (p.Asp1087Glu)
c.3165C>G (p.Asp1055Glu)
c.870C>G (p.Asp290Glu)
c.3288C>G (p.Asp1096Glu)
c.3192C>G (p.Asp1064Glu)
c.3132C>G (p.Asp1044Glu)
c.3036C>G (p.Asp1012Glu)
6g.43045256G>TCA364208435CUL7,KLC4n.1080C>A
c.3009C>A (p.Asp1003Glu)
n.3570C>A
c.*1306C>A (n.*1306C>A)
n.3292C>A
n.3586C>A
c.958C>A
n.3848C>A
c.3105C>A (p.Asp1035Glu)
c.1501C>A
c.-553+1748G>T (n.-553+1748G>T)
c.3261C>A (p.Asp1087Glu)
c.3165C>A (p.Asp1055Glu)
c.870C>A (p.Asp290Glu)
c.3288C>A (p.Asp1096Glu)
c.3192C>A (p.Asp1064Glu)
c.3132C>A (p.Asp1044Glu)
c.3036C>A (p.Asp1012Glu)
6g.43045257T>ACA364208438CUL7,KLC4n.1079A>T
c.3008A>T (p.Asp1003Val)
n.3569A>T
c.*1305A>T (n.*1305A>T)
n.3291A>T
n.3585A>T
c.957A>T
n.3847A>T
c.3104A>T (p.Asp1035Val)
c.1500A>T
c.-553+1749T>A (n.-553+1749T>A)
c.3260A>T (p.Asp1087Val)
c.3164A>T (p.Asp1055Val)
c.869A>T (p.Asp290Val)
c.3287A>T (p.Asp1096Val)
c.3191A>T (p.Asp1064Val)
c.3131A>T (p.Asp1044Val)
c.3035A>T (p.Asp1012Val)
6g.43045257T>CCA364208440CUL7,KLC4n.1079A>G
c.3008A>G (p.Asp1003Gly)
n.3569A>G
c.*1305A>G (n.*1305A>G)
n.3291A>G
n.3585A>G
c.957A>G
n.3847A>G
c.3104A>G (p.Asp1035Gly)
c.1500A>G
c.-553+1749T>C (n.-553+1749T>C)
c.3260A>G (p.Asp1087Gly)
c.3164A>G (p.Asp1055Gly)
c.869A>G (p.Asp290Gly)
c.3287A>G (p.Asp1096Gly)
c.3191A>G (p.Asp1064Gly)
c.3131A>G (p.Asp1044Gly)
c.3035A>G (p.Asp1012Gly)
6g.43045257T>GCA364208443CUL7,KLC4n.1079A>C
c.3008A>C (p.Asp1003Ala)
n.3569A>C
c.*1305A>C (n.*1305A>C)
n.3291A>C
n.3585A>C
c.957A>C
n.3847A>C
c.3104A>C (p.Asp1035Ala)
c.1500A>C
c.-553+1749T>G (n.-553+1749T>G)
c.3260A>C (p.Asp1087Ala)
c.3164A>C (p.Asp1055Ala)
c.869A>C (p.Asp290Ala)
c.3287A>C (p.Asp1096Ala)
c.3191A>C (p.Asp1064Ala)
c.3131A>C (p.Asp1044Ala)
c.3035A>C (p.Asp1012Ala)
6g.43045258C>ACA364208446CUL7,KLC4n.1078G>T
c.3007G>T (p.Asp1003Tyr)
n.3568G>T
c.*1304G>T (n.*1304G>T)
n.3290G>T
n.3584G>T
c.956G>T
n.3846G>T
c.3103G>T (p.Asp1035Tyr)
c.1499G>T
c.-553+1750C>A (n.-553+1750C>A)
c.3259G>T (p.Asp1087Tyr)
c.3163G>T (p.Asp1055Tyr)
c.868G>T (p.Asp290Tyr)
c.3286G>T (p.Asp1096Tyr)
c.3190G>T (p.Asp1064Tyr)
c.3130G>T (p.Asp1044Tyr)
c.3034G>T (p.Asp1012Tyr)
6g.43045258C>GCA364208449CUL7,KLC4n.1078G>C
c.3007G>C (p.Asp1003His)
n.3568G>C
c.*1304G>C (n.*1304G>C)
n.3290G>C
n.3584G>C
c.956G>C
n.3846G>C
c.3103G>C (p.Asp1035His)
c.1499G>C
c.-553+1750C>G (n.-553+1750C>G)
c.3259G>C (p.Asp1087His)
c.3163G>C (p.Asp1055His)
c.868G>C (p.Asp290His)
c.3286G>C (p.Asp1096His)
c.3190G>C (p.Asp1064His)
c.3130G>C (p.Asp1044His)
c.3034G>C (p.Asp1012His)
6g.43045258C>TCA364208450CUL7,KLC4n.1078G>A
c.3007G>A (p.Asp1003Asn)
n.3568G>A
c.*1304G>A (n.*1304G>A)
n.3290G>A
n.3584G>A
c.956G>A
n.3846G>A
c.3103G>A (p.Asp1035Asn)
c.1499G>A
c.-553+1750C>T (n.-553+1750C>T)
c.3259G>A (p.Asp1087Asn)
c.3163G>A (p.Asp1055Asn)
c.868G>A (p.Asp290Asn)
c.3286G>A (p.Asp1096Asn)
c.3190G>A (p.Asp1064Asn)
c.3130G>A (p.Asp1044Asn)
c.3034G>A (p.Asp1012Asn)
 COSMIC COSMIC
6g.43045259C>ACA364208453CUL7,KLC4n.1077G>T
c.3006G>T (p.Glu1002Asp)
n.3567G>T
c.*1303G>T (n.*1303G>T)
n.3289G>T
n.3583G>T
c.955G>T
n.3845G>T
c.3102G>T (p.Glu1034Asp)
c.1498G>T
c.-553+1751C>A (n.-553+1751C>A)
c.3258G>T (p.Glu1086Asp)
c.3162G>T (p.Glu1054Asp)
c.867G>T (p.Glu289Asp)
c.3285G>T (p.Glu1095Asp)
c.3189G>T (p.Glu1063Asp)
c.3129G>T (p.Glu1043Asp)
c.3033G>T (p.Glu1011Asp)
6g.43045259C>GCA364208455CUL7,KLC4n.1077G>C
c.3006G>C (p.Glu1002Asp)
n.3567G>C
c.*1303G>C (n.*1303G>C)
n.3289G>C
n.3583G>C
c.955G>C
n.3845G>C
c.3102G>C (p.Glu1034Asp)
c.1498G>C
c.-553+1751C>G (n.-553+1751C>G)
c.3258G>C (p.Glu1086Asp)
c.3162G>C (p.Glu1054Asp)
c.867G>C (p.Glu289Asp)
c.3285G>C (p.Glu1095Asp)
c.3189G>C (p.Glu1063Asp)
c.3129G>C (p.Glu1043Asp)
c.3033G>C (p.Glu1011Asp)
6g.43045259C>TCA450260383CUL7,KLC4n.1077G>A
c.3006G>A (p.Glu1002=)
n.3567G>A
c.*1303G>A (n.*1303G>A)
n.3289G>A
n.3583G>A
c.955G>A
n.3845G>A
c.3102G>A (p.Glu1034=)
c.1498G>A
c.-553+1751C>T (n.-553+1751C>T)
c.3258G>A (p.Glu1086=)
c.3162G>A (p.Glu1054=)
c.867G>A (p.Glu289=)
c.3285G>A (p.Glu1095=)
c.3189G>A (p.Glu1063=)
c.3129G>A (p.Glu1043=)
c.3033G>A (p.Glu1011=)
6g.43045260T>ACA364208460CUL7,KLC4n.1076A>T
c.3005A>T (p.Glu1002Val)
n.3566A>T
c.*1302A>T (n.*1302A>T)
n.3288A>T
n.3582A>T
c.954A>T
n.3844A>T
c.3101A>T (p.Glu1034Val)
c.1497A>T
c.-553+1752T>A (n.-553+1752T>A)
c.3257A>T (p.Glu1086Val)
c.3161A>T (p.Glu1054Val)
c.866A>T (p.Glu289Val)
c.3284A>T (p.Glu1095Val)
c.3188A>T (p.Glu1063Val)
c.3128A>T (p.Glu1043Val)
c.3032A>T (p.Glu1011Val)
6g.43045260T>CCA364208462CUL7,KLC4n.1076A>G
c.3005A>G (p.Glu1002Gly)
n.3566A>G
c.*1302A>G (n.*1302A>G)
n.3288A>G
n.3582A>G
c.954A>G
n.3844A>G
c.3101A>G (p.Glu1034Gly)
c.1497A>G
c.-553+1752T>C (n.-553+1752T>C)
c.3257A>G (p.Glu1086Gly)
c.3161A>G (p.Glu1054Gly)
c.866A>G (p.Glu289Gly)
c.3284A>G (p.Glu1095Gly)
c.3188A>G (p.Glu1063Gly)
c.3128A>G (p.Glu1043Gly)
c.3032A>G (p.Glu1011Gly)
6g.43045260T>GCA364208464CUL7,KLC4n.1076A>C
c.3005A>C (p.Glu1002Ala)
n.3566A>C
c.*1302A>C (n.*1302A>C)
n.3288A>C
n.3582A>C
c.954A>C
n.3844A>C
c.3101A>C (p.Glu1034Ala)
c.1497A>C
c.-553+1752T>G (n.-553+1752T>G)
c.3257A>C (p.Glu1086Ala)
c.3161A>C (p.Glu1054Ala)
c.866A>C (p.Glu289Ala)
c.3284A>C (p.Glu1095Ala)
c.3188A>C (p.Glu1063Ala)
c.3128A>C (p.Glu1043Ala)
c.3032A>C (p.Glu1011Ala)
6g.43045261C>ACA364208472CUL7,KLC4n.1075G>T
c.3004G>T (p.Glu1002Ter)
n.3565G>T
c.*1301G>T (n.*1301G>T)
n.3287G>T
n.3581G>T
c.953G>T
n.3843G>T
c.3100G>T (p.Glu1034Ter)
c.1496G>T
c.-553+1753C>A (n.-553+1753C>A)
c.3256G>T (p.Glu1086Ter)
c.3160G>T (p.Glu1054Ter)
c.865G>T (p.Glu289Ter)
c.3283G>T (p.Glu1095Ter)
c.3187G>T (p.Glu1063Ter)
c.3127G>T (p.Glu1043Ter)
c.3031G>T (p.Glu1011Ter)
6g.43045261C>GCA364208469CUL7,KLC4n.1075G>C
c.3004G>C (p.Glu1002Gln)
n.3565G>C
c.*1301G>C (n.*1301G>C)
n.3287G>C
n.3581G>C
c.953G>C
n.3843G>C
c.3100G>C (p.Glu1034Gln)
c.1496G>C
c.-553+1753C>G (n.-553+1753C>G)
c.3256G>C (p.Glu1086Gln)
c.3160G>C (p.Glu1054Gln)
c.865G>C (p.Glu289Gln)
c.3283G>C (p.Glu1095Gln)
c.3187G>C (p.Glu1063Gln)
c.3127G>C (p.Glu1043Gln)
c.3031G>C (p.Glu1011Gln)
 dbSNP
6g.43045261C>TCA364208467CUL7,KLC4n.1075G>A
c.3004G>A (p.Glu1002Lys)
n.3565G>A
c.*1301G>A (n.*1301G>A)
n.3287G>A
n.3581G>A
c.953G>A
n.3843G>A
c.3100G>A (p.Glu1034Lys)
c.1496G>A
c.-553+1753C>T (n.-553+1753C>T)
c.3256G>A (p.Glu1086Lys)
c.3160G>A (p.Glu1054Lys)
c.865G>A (p.Glu289Lys)
c.3283G>A (p.Glu1095Lys)
c.3187G>A (p.Glu1063Lys)
c.3127G>A (p.Glu1043Lys)
c.3031G>A (p.Glu1011Lys)
 gnomAD v4
6g.43045262T>ACA450260387CUL7,KLC4n.1074A>T
c.3003A>T (p.Ala1001=)
n.3564A>T
c.*1300A>T (n.*1300A>T)
n.3286A>T
n.3580A>T
c.952A>T
n.3842A>T
c.3099A>T (p.Ala1033=)
c.1495A>T
c.-553+1754T>A (n.-553+1754T>A)
c.3255A>T (p.Ala1085=)
c.3159A>T (p.Ala1053=)
c.864A>T (p.Ala288=)
c.3282A>T (p.Ala1094=)
c.3186A>T (p.Ala1062=)
c.3126A>T (p.Ala1042=)
c.3030A>T (p.Ala1010=)
6g.43045262T>CCA450260388CUL7,KLC4n.1074A>G
c.3003A>G (p.Ala1001=)
n.3564A>G
c.*1300A>G (n.*1300A>G)
n.3286A>G
n.3580A>G
c.952A>G
n.3842A>G
c.3099A>G (p.Ala1033=)
c.1495A>G
c.-553+1754T>C (n.-553+1754T>C)
c.3255A>G (p.Ala1085=)
c.3159A>G (p.Ala1053=)
c.864A>G (p.Ala288=)
c.3282A>G (p.Ala1094=)
c.3186A>G (p.Ala1062=)
c.3126A>G (p.Ala1042=)
c.3030A>G (p.Ala1010=)
6g.43045262T>GCA450260389CUL7,KLC4n.1074A>C
c.3003A>C (p.Ala1001=)
n.3564A>C
c.*1300A>C (n.*1300A>C)
n.3286A>C
n.3580A>C
c.952A>C
n.3842A>C
c.3099A>C (p.Ala1033=)
c.1495A>C
c.-553+1754T>G (n.-553+1754T>G)
c.3255A>C (p.Ala1085=)
c.3159A>C (p.Ala1053=)
c.864A>C (p.Ala288=)
c.3282A>C (p.Ala1094=)
c.3186A>C (p.Ala1062=)
c.3126A>C (p.Ala1042=)
c.3030A>C (p.Ala1010=)
6g.43045263G>ACA364208476CUL7,KLC4n.1073C>T
c.3002C>T (p.Ala1001Val)
n.3563C>T
c.*1299C>T (n.*1299C>T)
n.3285C>T
n.3579C>T
c.951C>T
n.3841C>T
c.3098C>T (p.Ala1033Val)
c.1494C>T
c.-553+1755G>A (n.-553+1755G>A)
c.3254C>T (p.Ala1085Val)
c.3158C>T (p.Ala1053Val)
c.863C>T (p.Ala288Val)
c.3281C>T (p.Ala1094Val)
c.3185C>T (p.Ala1062Val)
c.3125C>T (p.Ala1042Val)
c.3029C>T (p.Ala1010Val)
 gnomAD v4
6g.43045263G>CCA364208477CUL7,KLC4n.1073C>G
c.3002C>G (p.Ala1001Gly)
n.3563C>G
c.*1299C>G (n.*1299C>G)
n.3285C>G
n.3579C>G
c.951C>G
n.3841C>G
c.3098C>G (p.Ala1033Gly)
c.1494C>G
c.-553+1755G>C (n.-553+1755G>C)
c.3254C>G (p.Ala1085Gly)
c.3158C>G (p.Ala1053Gly)
c.863C>G (p.Ala288Gly)
c.3281C>G (p.Ala1094Gly)
c.3185C>G (p.Ala1062Gly)
c.3125C>G (p.Ala1042Gly)
c.3029C>G (p.Ala1010Gly)
6g.43045263G>TCA364208478CUL7,KLC4n.1073C>A
c.3002C>A (p.Ala1001Glu)
n.3563C>A
c.*1299C>A (n.*1299C>A)
n.3285C>A
n.3579C>A
c.951C>A
n.3841C>A
c.3098C>A (p.Ala1033Glu)
c.1494C>A
c.-553+1755G>T (n.-553+1755G>T)
c.3254C>A (p.Ala1085Glu)
c.3158C>A (p.Ala1053Glu)
c.863C>A (p.Ala288Glu)
c.3281C>A (p.Ala1094Glu)
c.3185C>A (p.Ala1062Glu)
c.3125C>A (p.Ala1042Glu)
c.3029C>A (p.Ala1010Glu)
6g.43045264C>ACA364208479CUL7,KLC4n.1072G>T
c.3001G>T (p.Ala1001Ser)
n.3562G>T
c.*1298G>T (n.*1298G>T)
n.3284G>T
n.3578G>T
c.950G>T
n.3840G>T
c.3097G>T (p.Ala1033Ser)
c.1493G>T
c.-553+1756C>A (n.-553+1756C>A)
c.3253G>T (p.Ala1085Ser)
c.3157G>T (p.Ala1053Ser)
c.862G>T (p.Ala288Ser)
c.3280G>T (p.Ala1094Ser)
c.3184G>T (p.Ala1062Ser)
c.3124G>T (p.Ala1042Ser)
c.3028G>T (p.Ala1010Ser)
6g.43045264C=CA1624355891CUL7,KLC4n.1072G=
c.3001G= (p.Ala1001=)
n.3562G=
c.*1298G= (n.*1298G=)
n.3284G=
n.3578G=
c.950G=
n.3840G=
c.3097G= (p.Ala1033=)
c.1493G=
c.-553+1756C= (n.-553+1756C=)
c.3253G= (p.Ala1085=)
c.3157G= (p.Ala1053=)
c.862G= (p.Ala288=)
c.3280G= (p.Ala1094=)
c.3184G= (p.Ala1062=)
c.3124G= (p.Ala1042=)
c.3028G= (p.Ala1010=)
6g.43045264C>GCA364208480CUL7,KLC4n.1072G>C
c.3001G>C (p.Ala1001Pro)
n.3562G>C
c.*1298G>C (n.*1298G>C)
n.3284G>C
n.3578G>C
c.950G>C
n.3840G>C
c.3097G>C (p.Ala1033Pro)
c.1493G>C
c.-553+1756C>G (n.-553+1756C>G)
c.3253G>C (p.Ala1085Pro)
c.3157G>C (p.Ala1053Pro)
c.862G>C (p.Ala288Pro)
c.3280G>C (p.Ala1094Pro)
c.3184G>C (p.Ala1062Pro)
c.3124G>C (p.Ala1042Pro)
c.3028G>C (p.Ala1010Pro)
6g.43045264C>TCA364208483CUL7,KLC4n.1072G>A
c.3001G>A (p.Ala1001Thr)
n.3562G>A
c.*1298G>A (n.*1298G>A)
n.3284G>A
n.3578G>A
c.950G>A
n.3840G>A
c.3097G>A (p.Ala1033Thr)
c.1493G>A
c.-553+1756C>T (n.-553+1756C>T)
c.3253G>A (p.Ala1085Thr)
c.3157G>A (p.Ala1053Thr)
c.862G>A (p.Ala288Thr)
c.3280G>A (p.Ala1094Thr)
c.3184G>A (p.Ala1062Thr)
c.3124G>A (p.Ala1042Thr)
c.3028G>A (p.Ala1010Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.43045265C>ACA364208486CUL7,KLC4n.1071G>T
c.3000G>T (p.Met1000Ile)
n.3561G>T
c.*1297G>T (n.*1297G>T)
n.3283G>T
n.3577G>T
c.949G>T
n.3839G>T
c.3096G>T (p.Met1032Ile)
c.1492G>T
c.-553+1757C>A (n.-553+1757C>A)
c.3252G>T (p.Met1084Ile)
c.3156G>T (p.Met1052Ile)
c.861G>T (p.Met287Ile)
c.3279G>T (p.Met1093Ile)
c.3183G>T (p.Met1061Ile)
c.3123G>T (p.Met1041Ile)
c.3027G>T (p.Met1009Ile)
6g.43045265C=CA1624355892CUL7,KLC4n.1071G=
c.3000G= (p.Met1000=)
n.3561G=
c.*1297G= (n.*1297G=)
n.3283G=
n.3577G=
c.949G=
n.3839G=
c.3096G= (p.Met1032=)
c.1492G=
c.-553+1757C= (n.-553+1757C=)
c.3252G= (p.Met1084=)
c.3156G= (p.Met1052=)
c.861G= (p.Met287=)
c.3279G= (p.Met1093=)
c.3183G= (p.Met1061=)
c.3123G= (p.Met1041=)
c.3027G= (p.Met1009=)
6g.43045265C>GCA364208488CUL7,KLC4n.1071G>C
c.3000G>C (p.Met1000Ile)
n.3561G>C
c.*1297G>C (n.*1297G>C)
n.3283G>C
n.3577G>C
c.949G>C
n.3839G>C
c.3096G>C (p.Met1032Ile)
c.1492G>C
c.-553+1757C>G (n.-553+1757C>G)
c.3252G>C (p.Met1084Ile)
c.3156G>C (p.Met1052Ile)
c.861G>C (p.Met287Ile)
c.3279G>C (p.Met1093Ile)
c.3183G>C (p.Met1061Ile)
c.3123G>C (p.Met1041Ile)
c.3027G>C (p.Met1009Ile)
6g.43045265C>TCA364208489CUL7,KLC4n.1071G>A
c.3000G>A (p.Met1000Ile)
n.3561G>A
c.*1297G>A (n.*1297G>A)
n.3283G>A
n.3577G>A
c.949G>A
n.3839G>A
c.3096G>A (p.Met1032Ile)
c.1492G>A
c.-553+1757C>T (n.-553+1757C>T)
c.3252G>A (p.Met1084Ile)
c.3156G>A (p.Met1052Ile)
c.861G>A (p.Met287Ile)
c.3279G>A (p.Met1093Ile)
c.3183G>A (p.Met1061Ile)
c.3123G>A (p.Met1041Ile)
c.3027G>A (p.Met1009Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43045266A>CCA364208492CUL7,KLC4n.1070T>G
c.2999T>G (p.Met1000Arg)
n.3560T>G
c.*1296T>G (n.*1296T>G)
n.3282T>G
n.3576T>G
c.948T>G
n.3838T>G
c.3095T>G (p.Met1032Arg)
c.1491T>G
c.-553+1758A>C (n.-553+1758A>C)
c.3251T>G (p.Met1084Arg)
c.3155T>G (p.Met1052Arg)
c.860T>G (p.Met287Arg)
c.3278T>G (p.Met1093Arg)
c.3182T>G (p.Met1061Arg)
c.3122T>G (p.Met1041Arg)
c.3026T>G (p.Met1009Arg)
6g.43045266A>GCA364208496CUL7,KLC4n.1070T>C
c.2999T>C (p.Met1000Thr)
n.3560T>C
c.*1296T>C (n.*1296T>C)
n.3282T>C
n.3576T>C
c.948T>C
n.3838T>C
c.3095T>C (p.Met1032Thr)
c.1491T>C
c.-553+1758A>G (n.-553+1758A>G)
c.3251T>C (p.Met1084Thr)
c.3155T>C (p.Met1052Thr)
c.860T>C (p.Met287Thr)
c.3278T>C (p.Met1093Thr)
c.3182T>C (p.Met1061Thr)
c.3122T>C (p.Met1041Thr)
c.3026T>C (p.Met1009Thr)
6g.43045266A>TCA364208500CUL7,KLC4n.1070T>A
c.2999T>A (p.Met1000Lys)
n.3560T>A
c.*1296T>A (n.*1296T>A)
n.3282T>A
n.3576T>A
c.948T>A
n.3838T>A
c.3095T>A (p.Met1032Lys)
c.1491T>A
c.-553+1758A>T (n.-553+1758A>T)
c.3251T>A (p.Met1084Lys)
c.3155T>A (p.Met1052Lys)
c.860T>A (p.Met287Lys)
c.3278T>A (p.Met1093Lys)
c.3182T>A (p.Met1061Lys)
c.3122T>A (p.Met1041Lys)
c.3026T>A (p.Met1009Lys)
6g.43045267T>ACA364208506CUL7,KLC4n.1069A>T
c.2998A>T (p.Met1000Leu)
n.3559A>T
c.*1295A>T (n.*1295A>T)
n.3281A>T
n.3575A>T
c.947A>T
n.3837A>T
c.3094A>T (p.Met1032Leu)
c.1490A>T
c.-553+1759T>A (n.-553+1759T>A)
c.3250A>T (p.Met1084Leu)
c.3154A>T (p.Met1052Leu)
c.859A>T (p.Met287Leu)
c.3277A>T (p.Met1093Leu)
c.3181A>T (p.Met1061Leu)
c.3121A>T (p.Met1041Leu)
c.3025A>T (p.Met1009Leu)
6g.43045267T>CCA364208503CUL7,KLC4n.1069A>G
c.2998A>G (p.Met1000Val)
n.3559A>G
c.*1295A>G (n.*1295A>G)
n.3281A>G
n.3575A>G
c.947A>G
n.3837A>G
c.3094A>G (p.Met1032Val)
c.1490A>G
c.-553+1759T>C (n.-553+1759T>C)
c.3250A>G (p.Met1084Val)
c.3154A>G (p.Met1052Val)
c.859A>G (p.Met287Val)
c.3277A>G (p.Met1093Val)
c.3181A>G (p.Met1061Val)
c.3121A>G (p.Met1041Val)
c.3025A>G (p.Met1009Val)
 dbSNP gnomAD v4
6g.43045267T>GCA364208502CUL7,KLC4n.1069A>C
c.2998A>C (p.Met1000Leu)
n.3559A>C
c.*1295A>C (n.*1295A>C)
n.3281A>C
n.3575A>C
c.947A>C
n.3837A>C
c.3094A>C (p.Met1032Leu)
c.1490A>C
c.-553+1759T>G (n.-553+1759T>G)
c.3250A>C (p.Met1084Leu)
c.3154A>C (p.Met1052Leu)
c.859A>C (p.Met287Leu)
c.3277A>C (p.Met1093Leu)
c.3181A>C (p.Met1061Leu)
c.3121A>C (p.Met1041Leu)
c.3025A>C (p.Met1009Leu)
6g.43045268G>ACA450260395CUL7,KLC4n.1068C>T
c.2997C>T (p.Asp999=)
n.3558C>T
c.*1294C>T (n.*1294C>T)
n.3280C>T
n.3574C>T
c.946C>T
n.3836C>T
c.3093C>T (p.Asp1031=)
c.1489C>T
c.-553+1760G>A (n.-553+1760G>A)
c.3249C>T (p.Asp1083=)
c.3153C>T (p.Asp1051=)
c.858C>T (p.Asp286=)
c.3276C>T (p.Asp1092=)
c.3180C>T (p.Asp1060=)
c.3120C>T (p.Asp1040=)
c.3024C>T (p.Asp1008=)
6g.43045268G>CCA364208509CUL7,KLC4n.1068C>G
c.2997C>G (p.Asp999Glu)
n.3558C>G
c.*1294C>G (n.*1294C>G)
n.3280C>G
n.3574C>G
c.946C>G
n.3836C>G
c.3093C>G (p.Asp1031Glu)
c.1489C>G
c.-553+1760G>C (n.-553+1760G>C)
c.3249C>G (p.Asp1083Glu)
c.3153C>G (p.Asp1051Glu)
c.858C>G (p.Asp286Glu)
c.3276C>G (p.Asp1092Glu)
c.3180C>G (p.Asp1060Glu)
c.3120C>G (p.Asp1040Glu)
c.3024C>G (p.Asp1008Glu)
6g.43045268G>TCA364208512CUL7,KLC4n.1068C>A
c.2997C>A (p.Asp999Glu)
n.3558C>A
c.*1294C>A (n.*1294C>A)
n.3280C>A
n.3574C>A
c.946C>A
n.3836C>A
c.3093C>A (p.Asp1031Glu)
c.1489C>A
c.-553+1760G>T (n.-553+1760G>T)
c.3249C>A (p.Asp1083Glu)
c.3153C>A (p.Asp1051Glu)
c.858C>A (p.Asp286Glu)
c.3276C>A (p.Asp1092Glu)
c.3180C>A (p.Asp1060Glu)
c.3120C>A (p.Asp1040Glu)
c.3024C>A (p.Asp1008Glu)
6g.43045269T>ACA364208516CUL7,KLC4n.1067A>T
c.2996A>T (p.Asp999Val)
n.3557A>T
c.*1293A>T (n.*1293A>T)
n.3279A>T
n.3573A>T
c.945A>T
n.3835A>T
c.3092A>T (p.Asp1031Val)
c.1488A>T
c.-553+1761T>A (n.-553+1761T>A)
c.3248A>T (p.Asp1083Val)
c.3152A>T (p.Asp1051Val)
c.857A>T (p.Asp286Val)
c.3275A>T (p.Asp1092Val)
c.3179A>T (p.Asp1060Val)
c.3119A>T (p.Asp1040Val)
c.3023A>T (p.Asp1008Val)
6g.43045269T>CCA364208518CUL7,KLC4n.1067A>G
c.2996A>G (p.Asp999Gly)
n.3557A>G
c.*1293A>G (n.*1293A>G)
n.3279A>G
n.3573A>G
c.945A>G
n.3835A>G
c.3092A>G (p.Asp1031Gly)
c.1488A>G
c.-553+1761T>C (n.-553+1761T>C)
c.3248A>G (p.Asp1083Gly)
c.3152A>G (p.Asp1051Gly)
c.857A>G (p.Asp286Gly)
c.3275A>G (p.Asp1092Gly)
c.3179A>G (p.Asp1060Gly)
c.3119A>G (p.Asp1040Gly)
c.3023A>G (p.Asp1008Gly)
6g.43045269T>GCA364208522CUL7,KLC4n.1067A>C
c.2996A>C (p.Asp999Ala)
n.3557A>C
c.*1293A>C (n.*1293A>C)
n.3279A>C
n.3573A>C
c.945A>C
n.3835A>C
c.3092A>C (p.Asp1031Ala)
c.1488A>C
c.-553+1761T>G (n.-553+1761T>G)
c.3248A>C (p.Asp1083Ala)
c.3152A>C (p.Asp1051Ala)
c.857A>C (p.Asp286Ala)
c.3275A>C (p.Asp1092Ala)
c.3179A>C (p.Asp1060Ala)
c.3119A>C (p.Asp1040Ala)
c.3023A>C (p.Asp1008Ala)
6g.43045270C>ACA364208524CUL7,KLC4n.1066G>T
c.2995G>T (p.Asp999Tyr)
n.3556G>T
c.*1292G>T (n.*1292G>T)
n.3278G>T
n.3572G>T
c.944G>T
n.3834G>T
c.3091G>T (p.Asp1031Tyr)
c.1487G>T
c.-553+1762C>A (n.-553+1762C>A)
c.3247G>T (p.Asp1083Tyr)
c.3151G>T (p.Asp1051Tyr)
c.856G>T (p.Asp286Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3178G>T (p.Asp1060Tyr)
c.3118G>T (p.Asp1040Tyr)
c.3022G>T (p.Asp1008Tyr)
6g.43045270C>GCA364208528CUL7,KLC4n.1066G>C
c.2995G>C (p.Asp999His)
n.3556G>C
c.*1292G>C (n.*1292G>C)
n.3278G>C
n.3572G>C
c.944G>C
n.3834G>C
c.3091G>C (p.Asp1031His)
c.1487G>C
c.-553+1762C>G (n.-553+1762C>G)
c.3247G>C (p.Asp1083His)
c.3151G>C (p.Asp1051His)
c.856G>C (p.Asp286His)
c.3274G>C (p.Asp1092His)
c.3178G>C (p.Asp1060His)
c.3118G>C (p.Asp1040His)
c.3022G>C (p.Asp1008His)
6g.43045270C>TCA364208534CUL7,KLC4n.1066G>A
c.2995G>A (p.Asp999Asn)
n.3556G>A
c.*1292G>A (n.*1292G>A)
n.3278G>A
n.3572G>A
c.944G>A
n.3834G>A
c.3091G>A (p.Asp1031Asn)
c.1487G>A
c.-553+1762C>T (n.-553+1762C>T)
c.3247G>A (p.Asp1083Asn)
c.3151G>A (p.Asp1051Asn)
c.856G>A (p.Asp286Asn)
c.3274G>A (p.Asp1092Asn)
c.3178G>A (p.Asp1060Asn)
c.3118G>A (p.Asp1040Asn)
c.3022G>A (p.Asp1008Asn)
6g.43045271C>ACA364208535CUL7,KLC4n.1065G>T
c.2994G>T (p.Gln998His)
n.3555G>T
c.*1291G>T (n.*1291G>T)
n.3277G>T
n.3571G>T
c.943G>T
n.3833G>T
c.3090G>T (p.Gln1030His)
c.1486G>T
c.-553+1763C>A (n.-553+1763C>A)
c.3246G>T (p.Gln1082His)
c.3150G>T (p.Gln1050His)
c.855G>T (p.Gln285His)
c.3273G>T (p.Gln1091His)
c.3177G>T (p.Gln1059His)
c.3117G>T (p.Gln1039His)
c.3021G>T (p.Gln1007His)
6g.43045271C>GCA364208537CUL7,KLC4n.1065G>C
c.2994G>C (p.Gln998His)
n.3555G>C
c.*1291G>C (n.*1291G>C)
n.3277G>C
n.3571G>C
c.943G>C
n.3833G>C
c.3090G>C (p.Gln1030His)
c.1486G>C
c.-553+1763C>G (n.-553+1763C>G)
c.3246G>C (p.Gln1082His)
c.3150G>C (p.Gln1050His)
c.855G>C (p.Gln285His)
c.3273G>C (p.Gln1091His)
c.3177G>C (p.Gln1059His)
c.3117G>C (p.Gln1039His)
c.3021G>C (p.Gln1007His)
6g.43045271C>TCA450260399CUL7,KLC4n.1065G>A
c.2994G>A (p.Gln998=)
n.3555G>A
c.*1291G>A (n.*1291G>A)
n.3277G>A
n.3571G>A
c.943G>A
n.3833G>A
c.3090G>A (p.Gln1030=)
c.1486G>A
c.-553+1763C>T (n.-553+1763C>T)
c.3246G>A (p.Gln1082=)
c.3150G>A (p.Gln1050=)
c.855G>A (p.Gln285=)
c.3273G>A (p.Gln1091=)
c.3177G>A (p.Gln1059=)
c.3117G>A (p.Gln1039=)
c.3021G>A (p.Gln1007=)
 gnomAD v4
6g.43045272T>ACA364208539CUL7,KLC4n.1064A>T
c.2993A>T (p.Gln998Leu)
n.3554A>T
c.*1290A>T (n.*1290A>T)
n.3276A>T
n.3570A>T
c.942A>T
n.3832A>T
c.3089A>T (p.Gln1030Leu)
c.1485A>T
c.-553+1764T>A (n.-553+1764T>A)
c.3245A>T (p.Gln1082Leu)
c.3149A>T (p.Gln1050Leu)
c.854A>T (p.Gln285Leu)
c.3272A>T (p.Gln1091Leu)
c.3176A>T (p.Gln1059Leu)
c.3116A>T (p.Gln1039Leu)
c.3020A>T (p.Gln1007Leu)
6g.43045272T>CCA364208541CUL7,KLC4n.1064A>G
c.2993A>G (p.Gln998Arg)
n.3554A>G
c.*1290A>G (n.*1290A>G)
n.3276A>G
n.3570A>G
c.942A>G
n.3832A>G
c.3089A>G (p.Gln1030Arg)
c.1485A>G
c.-553+1764T>C (n.-553+1764T>C)
c.3245A>G (p.Gln1082Arg)
c.3149A>G (p.Gln1050Arg)
c.854A>G (p.Gln285Arg)
c.3272A>G (p.Gln1091Arg)
c.3176A>G (p.Gln1059Arg)
c.3116A>G (p.Gln1039Arg)
c.3020A>G (p.Gln1007Arg)
6g.43045272T>GCA364208544CUL7,KLC4n.1064A>C
c.2993A>C (p.Gln998Pro)
n.3554A>C
c.*1290A>C (n.*1290A>C)
n.3276A>C
n.3570A>C
c.942A>C
n.3832A>C
c.3089A>C (p.Gln1030Pro)
c.1485A>C
c.-553+1764T>G (n.-553+1764T>G)
c.3245A>C (p.Gln1082Pro)
c.3149A>C (p.Gln1050Pro)
c.854A>C (p.Gln285Pro)
c.3272A>C (p.Gln1091Pro)
c.3176A>C (p.Gln1059Pro)
c.3116A>C (p.Gln1039Pro)
c.3020A>C (p.Gln1007Pro)
6g.43045273G>ACA364208563CUL7,KLC4n.1063C>T
c.2992C>T (p.Gln998Ter)
n.3553C>T
c.*1289C>T (n.*1289C>T)
n.3275C>T
n.3569C>T
c.941C>T
n.3831C>T
c.3088C>T (p.Gln1030Ter)
c.1484C>T
c.-553+1765G>A (n.-553+1765G>A)
c.3244C>T (p.Gln1082Ter)
c.3148C>T (p.Gln1050Ter)
c.853C>T (p.Gln285Ter)
c.3271C>T (p.Gln1091Ter)
c.3175C>T (p.Gln1059Ter)
c.3115C>T (p.Gln1039Ter)
c.3019C>T (p.Gln1007Ter)
 gnomAD v4
6g.43045273G>CCA364208547CUL7,KLC4n.1063C>G
c.2992C>G (p.Gln998Glu)
n.3553C>G
c.*1289C>G (n.*1289C>G)
n.3275C>G
n.3569C>G
c.941C>G
n.3831C>G
c.3088C>G (p.Gln1030Glu)
c.1484C>G
c.-553+1765G>C (n.-553+1765G>C)
c.3244C>G (p.Gln1082Glu)
c.3148C>G (p.Gln1050Glu)
c.853C>G (p.Gln285Glu)
c.3271C>G (p.Gln1091Glu)
c.3175C>G (p.Gln1059Glu)
c.3115C>G (p.Gln1039Glu)
c.3019C>G (p.Gln1007Glu)
6g.43045273G>TCA364208549CUL7,KLC4n.1063C>A
c.2992C>A (p.Gln998Lys)
n.3553C>A
c.*1289C>A (n.*1289C>A)
n.3275C>A
n.3569C>A
c.941C>A
n.3831C>A
c.3088C>A (p.Gln1030Lys)
c.1484C>A
c.-553+1765G>T (n.-553+1765G>T)
c.3244C>A (p.Gln1082Lys)
c.3148C>A (p.Gln1050Lys)
c.853C>A (p.Gln285Lys)
c.3271C>A (p.Gln1091Lys)
c.3175C>A (p.Gln1059Lys)
c.3115C>A (p.Gln1039Lys)
c.3019C>A (p.Gln1007Lys)
6g.43045274dupCA2842672684CUL7,KLC4n.1063dup
c.2992dup (p.Gln998ProfsTer16)
n.3553dup
c.*1289dup (n.*1289dup)
n.3275dup
n.3569dup
c.941dup
n.3831dup
c.3088dup (p.Gln1030ProfsTer16)
c.1484dup
c.-553+1766dup (n.-553+1766dup)
c.3244dup (p.Gln1082ProfsTer16)
c.3148dup (p.Gln1050ProfsTer16)
c.853dup (p.Gln285ProfsTer16)
c.3271dup (p.Gln1091ProfsTer16)
c.3175dup (p.Gln1059ProfsTer16)
c.3115dup (p.Gln1039ProfsTer16)
c.3019dup (p.Gln1007ProfsTer16)
6g.43045274G>ACA450260402CUL7,KLC4n.1062C>T
c.2991C>T (p.Ser997=)
n.3552C>T
c.*1288C>T (n.*1288C>T)
n.3274C>T
n.3568C>T
c.940C>T
n.3830C>T
c.3087C>T (p.Ser1029=)
c.1483C>T
c.-553+1766G>A (n.-553+1766G>A)
c.3243C>T (p.Ser1081=)
c.3147C>T (p.Ser1049=)
c.852C>T (p.Ser284=)
c.3270C>T (p.Ser1090=)
c.3174C>T (p.Ser1058=)
c.3114C>T (p.Ser1038=)
c.3018C>T (p.Ser1006=)
 dbSNP gnomAD v2 gnomAD v4
6g.43045274G>CCA364208566CUL7,KLC4n.1062C>G
c.2991C>G (p.Ser997Arg)
n.3552C>G
c.*1288C>G (n.*1288C>G)
n.3274C>G
n.3568C>G
c.940C>G
n.3830C>G
c.3087C>G (p.Ser1029Arg)
c.1483C>G
c.-553+1766G>C (n.-553+1766G>C)
c.3243C>G (p.Ser1081Arg)
c.3147C>G (p.Ser1049Arg)
c.852C>G (p.Ser284Arg)
c.3270C>G (p.Ser1090Arg)
c.3174C>G (p.Ser1058Arg)
c.3114C>G (p.Ser1038Arg)
c.3018C>G (p.Ser1006Arg)
6g.43045274G=CA1624355893CUL7,KLC4n.1062C=
c.2991C= (p.Ser997=)
n.3552C=
c.*1288C= (n.*1288C=)
n.3274C=
n.3568C=
c.940C=
n.3830C=
c.3087C= (p.Ser1029=)
c.1483C=
c.-553+1766G= (n.-553+1766G=)
c.3243C= (p.Ser1081=)
c.3147C= (p.Ser1049=)
c.852C= (p.Ser284=)
c.3270C= (p.Ser1090=)
c.3174C= (p.Ser1058=)
c.3114C= (p.Ser1038=)
c.3018C= (p.Ser1006=)
6g.43045274G>TCA364208569CUL7,KLC4n.1062C>A
c.2991C>A (p.Ser997Arg)
n.3552C>A
c.*1288C>A (n.*1288C>A)
n.3274C>A
n.3568C>A
c.940C>A
n.3830C>A
c.3087C>A (p.Ser1029Arg)
c.1483C>A
c.-553+1766G>T (n.-553+1766G>T)
c.3243C>A (p.Ser1081Arg)
c.3147C>A (p.Ser1049Arg)
c.852C>A (p.Ser284Arg)
c.3270C>A (p.Ser1090Arg)
c.3174C>A (p.Ser1058Arg)
c.3114C>A (p.Ser1038Arg)
c.3018C>A (p.Ser1006Arg)
6g.43045275C>ACA364208572CUL7,KLC4n.1061G>T
c.2990G>T (p.Ser997Ile)
n.3551G>T
c.*1287G>T (n.*1287G>T)
n.3273G>T
n.3567G>T
c.939G>T
n.3829G>T
c.3086G>T (p.Ser1029Ile)
c.1482G>T
c.-553+1767C>A (n.-553+1767C>A)
c.3242G>T (p.Ser1081Ile)
c.3146G>T (p.Ser1049Ile)
c.851G>T (p.Ser284Ile)
c.3269G>T (p.Ser1090Ile)
c.3173G>T (p.Ser1058Ile)
c.3113G>T (p.Ser1038Ile)
c.3017G>T (p.Ser1006Ile)
6g.43045275C>GCA364208575CUL7,KLC4n.1061G>C
c.2990G>C (p.Ser997Thr)
n.3551G>C
c.*1287G>C (n.*1287G>C)
n.3273G>C
n.3567G>C
c.939G>C
n.3829G>C
c.3086G>C (p.Ser1029Thr)
c.1482G>C
c.-553+1767C>G (n.-553+1767C>G)
c.3242G>C (p.Ser1081Thr)
c.3146G>C (p.Ser1049Thr)
c.851G>C (p.Ser284Thr)
c.3269G>C (p.Ser1090Thr)
c.3173G>C (p.Ser1058Thr)
c.3113G>C (p.Ser1038Thr)
c.3017G>C (p.Ser1006Thr)
6g.43045275C>TCA364208577CUL7,KLC4n.1061G>A
c.2990G>A (p.Ser997Asn)
n.3551G>A
c.*1287G>A (n.*1287G>A)
n.3273G>A
n.3567G>A
c.939G>A
n.3829G>A
c.3086G>A (p.Ser1029Asn)
c.1482G>A
c.-553+1767C>T (n.-553+1767C>T)
c.3242G>A (p.Ser1081Asn)
c.3146G>A (p.Ser1049Asn)
c.851G>A (p.Ser284Asn)
c.3269G>A (p.Ser1090Asn)
c.3173G>A (p.Ser1058Asn)
c.3113G>A (p.Ser1038Asn)
c.3017G>A (p.Ser1006Asn)
6g.43045276T>ACA364208581CUL7,KLC4n.1060A>T
c.2989A>T (p.Ser997Cys)
n.3550A>T
c.*1286A>T (n.*1286A>T)
n.3272A>T
n.3566A>T
c.938A>T
n.3828A>T
c.3085A>T (p.Ser1029Cys)
c.1481A>T
c.-553+1768T>A (n.-553+1768T>A)
c.3241A>T (p.Ser1081Cys)
c.3145A>T (p.Ser1049Cys)
c.850A>T (p.Ser284Cys)
c.3268A>T (p.Ser1090Cys)
c.3172A>T (p.Ser1058Cys)
c.3112A>T (p.Ser1038Cys)
c.3016A>T (p.Ser1006Cys)
6g.43045276T>CCA364208588CUL7,KLC4n.1060A>G
c.2989A>G (p.Ser997Gly)
n.3550A>G
c.*1286A>G (n.*1286A>G)
n.3272A>G
n.3566A>G
c.938A>G
n.3828A>G
c.3085A>G (p.Ser1029Gly)
c.1481A>G
c.-553+1768T>C (n.-553+1768T>C)
c.3241A>G (p.Ser1081Gly)
c.3145A>G (p.Ser1049Gly)
c.850A>G (p.Ser284Gly)
c.3268A>G (p.Ser1090Gly)
c.3172A>G (p.Ser1058Gly)
c.3112A>G (p.Ser1038Gly)
c.3016A>G (p.Ser1006Gly)
6g.43045276T>GCA364208590CUL7,KLC4n.1060A>C
c.2989A>C (p.Ser997Arg)
n.3550A>C
c.*1286A>C (n.*1286A>C)
n.3272A>C
n.3566A>C
c.938A>C
n.3828A>C
c.3085A>C (p.Ser1029Arg)
c.1481A>C
c.-553+1768T>G (n.-553+1768T>G)
c.3241A>C (p.Ser1081Arg)
c.3145A>C (p.Ser1049Arg)
c.850A>C (p.Ser284Arg)
c.3268A>C (p.Ser1090Arg)
c.3172A>C (p.Ser1058Arg)
c.3112A>C (p.Ser1038Arg)
c.3016A>C (p.Ser1006Arg)
6g.43045277C>ACA364208592CUL7,KLC4n.1059G>T
c.2988G>T (p.Trp996Cys)
n.3549G>T
c.*1285G>T (n.*1285G>T)
n.3271G>T
n.3565G>T
c.937G>T
n.3827G>T
c.3084G>T (p.Trp1028Cys)
c.1480G>T
c.-553+1769C>A (n.-553+1769C>A)
c.3240G>T (p.Trp1080Cys)
c.3144G>T (p.Trp1048Cys)
c.849G>T (p.Trp283Cys)
c.3267G>T (p.Trp1089Cys)
c.3171G>T (p.Trp1057Cys)
c.3111G>T (p.Trp1037Cys)
c.3015G>T (p.Trp1005Cys)
6g.43045277C=CA1624355894CUL7,KLC4n.1059G=
c.2988G= (p.Trp996=)
n.3549G=
c.*1285G= (n.*1285G=)
n.3271G=
n.3565G=
c.937G=
n.3827G=
c.3084G= (p.Trp1028=)
c.1480G=
c.-553+1769C= (n.-553+1769C=)
c.3240G= (p.Trp1080=)
c.3144G= (p.Trp1048=)
c.849G= (p.Trp283=)
c.3267G= (p.Trp1089=)
c.3171G= (p.Trp1057=)
c.3111G= (p.Trp1037=)
c.3015G= (p.Trp1005=)
6g.43045277C>GCA364208597CUL7,KLC4n.1059G>C
c.2988G>C (p.Trp996Cys)
n.3549G>C
c.*1285G>C (n.*1285G>C)
n.3271G>C
n.3565G>C
c.937G>C
n.3827G>C
c.3084G>C (p.Trp1028Cys)
c.1480G>C
c.-553+1769C>G (n.-553+1769C>G)
c.3240G>C (p.Trp1080Cys)
c.3144G>C (p.Trp1048Cys)
c.849G>C (p.Trp283Cys)
c.3267G>C (p.Trp1089Cys)
c.3171G>C (p.Trp1057Cys)
c.3111G>C (p.Trp1037Cys)
c.3015G>C (p.Trp1005Cys)
6g.43045277C>TCA364208599CUL7,KLC4n.1059G>A
c.2988G>A (p.Trp996Ter)
n.3549G>A
c.*1285G>A (n.*1285G>A)
n.3271G>A
n.3565G>A
c.937G>A
n.3827G>A
c.3084G>A (p.Trp1028Ter)
c.1480G>A
c.-553+1769C>T (n.-553+1769C>T)
c.3240G>A (p.Trp1080Ter)
c.3144G>A (p.Trp1048Ter)
c.849G>A (p.Trp283Ter)
c.3267G>A (p.Trp1089Ter)
c.3171G>A (p.Trp1057Ter)
c.3111G>A (p.Trp1037Ter)
c.3015G>A (p.Trp1005Ter)
 ClinVar dbSNP
6g.43045278C>ACA364208607CUL7,KLC4n.1058G>T
c.2987G>T (p.Trp996Leu)
n.3548G>T
c.*1284G>T (n.*1284G>T)
n.3270G>T
n.3564G>T
c.936G>T
n.3826G>T
c.3083G>T (p.Trp1028Leu)
c.1479G>T
c.-553+1770C>A (n.-553+1770C>A)
c.3239G>T (p.Trp1080Leu)
c.3143G>T (p.Trp1048Leu)
c.848G>T (p.Trp283Leu)
c.3266G>T (p.Trp1089Leu)
c.3170G>T (p.Trp1057Leu)
c.3110G>T (p.Trp1037Leu)
c.3014G>T (p.Trp1005Leu)
6g.43045278C>GCA364208604CUL7,KLC4n.1058G>C
c.2987G>C (p.Trp996Ser)
n.3548G>C
c.*1284G>C (n.*1284G>C)
n.3270G>C
n.3564G>C
c.936G>C
n.3826G>C
c.3083G>C (p.Trp1028Ser)
c.1479G>C
c.-553+1770C>G (n.-553+1770C>G)
c.3239G>C (p.Trp1080Ser)
c.3143G>C (p.Trp1048Ser)
c.848G>C (p.Trp283Ser)
c.3266G>C (p.Trp1089Ser)
c.3170G>C (p.Trp1057Ser)
c.3110G>C (p.Trp1037Ser)
c.3014G>C (p.Trp1005Ser)
6g.43045278C>TCA364208602CUL7,KLC4n.1058G>A
c.2987G>A (p.Trp996Ter)
n.3548G>A
c.*1284G>A (n.*1284G>A)
n.3270G>A
n.3564G>A
c.936G>A
n.3826G>A
c.3083G>A (p.Trp1028Ter)
c.1479G>A
c.-553+1770C>T (n.-553+1770C>T)
c.3239G>A (p.Trp1080Ter)
c.3143G>A (p.Trp1048Ter)
c.848G>A (p.Trp283Ter)
c.3266G>A (p.Trp1089Ter)
c.3170G>A (p.Trp1057Ter)
c.3110G>A (p.Trp1037Ter)
c.3014G>A (p.Trp1005Ter)
6g.43045279A>CCA364208609CUL7,KLC4n.1057T>G
c.2986T>G (p.Trp996Gly)
n.3547T>G
c.*1283T>G (n.*1283T>G)
n.3269T>G
n.3563T>G
c.935T>G
n.3825T>G
c.3082T>G (p.Trp1028Gly)
c.1478T>G
c.-553+1771A>C (n.-553+1771A>C)
c.3238T>G (p.Trp1080Gly)
c.3142T>G (p.Trp1048Gly)
c.847T>G (p.Trp283Gly)
c.3265T>G (p.Trp1089Gly)
c.3169T>G (p.Trp1057Gly)
c.3109T>G (p.Trp1037Gly)
c.3013T>G (p.Trp1005Gly)
6g.43045279A>GCA364208616CUL7,KLC4n.1057T>C
c.2986T>C (p.Trp996Arg)
n.3547T>C
c.*1283T>C (n.*1283T>C)
n.3269T>C
n.3563T>C
c.935T>C
n.3825T>C
c.3082T>C (p.Trp1028Arg)
c.1478T>C
c.-553+1771A>G (n.-553+1771A>G)
c.3238T>C (p.Trp1080Arg)
c.3142T>C (p.Trp1048Arg)
c.847T>C (p.Trp283Arg)
c.3265T>C (p.Trp1089Arg)
c.3169T>C (p.Trp1057Arg)
c.3109T>C (p.Trp1037Arg)
c.3013T>C (p.Trp1005Arg)
6g.43045279A>TCA364208614CUL7,KLC4n.1057T>A
c.2986T>A (p.Trp996Arg)
n.3547T>A
c.*1283T>A (n.*1283T>A)
n.3269T>A
n.3563T>A
c.935T>A
n.3825T>A
c.3082T>A (p.Trp1028Arg)
c.1478T>A
c.-553+1771A>T (n.-553+1771A>T)
c.3238T>A (p.Trp1080Arg)
c.3142T>A (p.Trp1048Arg)
c.847T>A (p.Trp283Arg)
c.3265T>A (p.Trp1089Arg)
c.3169T>A (p.Trp1057Arg)
c.3109T>A (p.Trp1037Arg)
c.3013T>A (p.Trp1005Arg)
6g.43045280G>ACA450260413CUL7,KLC4n.1056C>T
c.2985C>T (p.Ala995=)
n.3546C>T
c.*1282C>T (n.*1282C>T)
n.3268C>T
n.3562C>T
c.934C>T
n.3824C>T
c.3081C>T (p.Ala1027=)
c.1477C>T
c.-553+1772G>A (n.-553+1772G>A)
c.3237C>T (p.Ala1079=)
c.3141C>T (p.Ala1047=)
c.846C>T (p.Ala282=)
c.3264C>T (p.Ala1088=)
c.3168C>T (p.Ala1056=)
c.3108C>T (p.Ala1036=)
c.3012C>T (p.Ala1004=)
 dbSNP
6g.43045280G>CCA450260414CUL7,KLC4n.1056C>G
c.2985C>G (p.Ala995=)
n.3546C>G
c.*1282C>G (n.*1282C>G)
n.3268C>G
n.3562C>G
c.934C>G
n.3824C>G
c.3081C>G (p.Ala1027=)
c.1477C>G
c.-553+1772G>C (n.-553+1772G>C)
c.3237C>G (p.Ala1079=)
c.3141C>G (p.Ala1047=)
c.846C>G (p.Ala282=)
c.3264C>G (p.Ala1088=)
c.3168C>G (p.Ala1056=)
c.3108C>G (p.Ala1036=)
c.3012C>G (p.Ala1004=)
 gnomAD v4
6g.43045280G=CA1624355895CUL7,KLC4n.1056C=
c.2985C= (p.Ala995=)
n.3546C=
c.*1282C= (n.*1282C=)
n.3268C=
n.3562C=
c.934C=
n.3824C=
c.3081C= (p.Ala1027=)
c.1477C=
c.-553+1772G= (n.-553+1772G=)
c.3237C= (p.Ala1079=)
c.3141C= (p.Ala1047=)
c.846C= (p.Ala282=)
c.3264C= (p.Ala1088=)
c.3168C= (p.Ala1056=)
c.3108C= (p.Ala1036=)
c.3012C= (p.Ala1004=)
6g.43045280G>TCA450260415CUL7,KLC4n.1056C>A
c.2985C>A (p.Ala995=)
n.3546C>A
c.*1282C>A (n.*1282C>A)
n.3268C>A
n.3562C>A
c.934C>A
n.3824C>A
c.3081C>A (p.Ala1027=)
c.1477C>A
c.-553+1772G>T (n.-553+1772G>T)
c.3237C>A (p.Ala1079=)
c.3141C>A (p.Ala1047=)
c.846C>A (p.Ala282=)
c.3264C>A (p.Ala1088=)
c.3168C>A (p.Ala1056=)
c.3108C>A (p.Ala1036=)
c.3012C>A (p.Ala1004=)
6g.43045281G>ACA364208620CUL7,KLC4n.1055C>T
c.2984C>T (p.Ala995Val)
n.3545C>T
c.*1281C>T (n.*1281C>T)
n.3267C>T
n.3561C>T
c.933C>T
n.3823C>T
c.3080C>T (p.Ala1027Val)
c.1476C>T
c.-553+1773G>A (n.-553+1773G>A)
c.3236C>T (p.Ala1079Val)
c.3140C>T (p.Ala1047Val)
c.845C>T (p.Ala282Val)
c.3263C>T (p.Ala1088Val)
c.3167C>T (p.Ala1056Val)
c.3107C>T (p.Ala1036Val)
c.3011C>T (p.Ala1004Val)
 gnomAD v4
6g.43045281G>CCA364208627CUL7,KLC4n.1055C>G
c.2984C>G (p.Ala995Gly)
n.3545C>G
c.*1281C>G (n.*1281C>G)
n.3267C>G
n.3561C>G
c.933C>G
n.3823C>G
c.3080C>G (p.Ala1027Gly)
c.1476C>G
c.-553+1773G>C (n.-553+1773G>C)
c.3236C>G (p.Ala1079Gly)
c.3140C>G (p.Ala1047Gly)
c.845C>G (p.Ala282Gly)
c.3263C>G (p.Ala1088Gly)
c.3167C>G (p.Ala1056Gly)
c.3107C>G (p.Ala1036Gly)
c.3011C>G (p.Ala1004Gly)
6g.43045281G>TCA364208625CUL7,KLC4n.1055C>A
c.2984C>A (p.Ala995Asp)
n.3545C>A
c.*1281C>A (n.*1281C>A)
n.3267C>A
n.3561C>A
c.933C>A
n.3823C>A
c.3080C>A (p.Ala1027Asp)
c.1476C>A
c.-553+1773G>T (n.-553+1773G>T)
c.3236C>A (p.Ala1079Asp)
c.3140C>A (p.Ala1047Asp)
c.845C>A (p.Ala282Asp)
c.3263C>A (p.Ala1088Asp)
c.3167C>A (p.Ala1056Asp)
c.3107C>A (p.Ala1036Asp)
c.3011C>A (p.Ala1004Asp)
6g.43045282C>ACA364208630CUL7,KLC4n.1054G>T
c.2983G>T (p.Ala995Ser)
n.3544G>T
c.*1280G>T (n.*1280G>T)
n.3266G>T
n.3560G>T
c.932G>T
n.3822G>T
c.3079G>T (p.Ala1027Ser)
c.1475G>T
c.-553+1774C>A (n.-553+1774C>A)
c.3235G>T (p.Ala1079Ser)
c.3139G>T (p.Ala1047Ser)
c.844G>T (p.Ala282Ser)
c.3262G>T (p.Ala1088Ser)
c.3166G>T (p.Ala1056Ser)
c.3106G>T (p.Ala1036Ser)
c.3010G>T (p.Ala1004Ser)
6g.43045282C=CA1624355896CUL7,KLC4n.1054G=
c.2983G= (p.Ala995=)
n.3544G=
c.*1280G= (n.*1280G=)
n.3266G=
n.3560G=
c.932G=
n.3822G=
c.3079G= (p.Ala1027=)
c.1475G=
c.-553+1774C= (n.-553+1774C=)
c.3235G= (p.Ala1079=)
c.3139G= (p.Ala1047=)
c.844G= (p.Ala282=)
c.3262G= (p.Ala1088=)
c.3166G= (p.Ala1056=)
c.3106G= (p.Ala1036=)
c.3010G= (p.Ala1004=)
6g.43045282C>GCA364208649CUL7,KLC4n.1054G>C
c.2983G>C (p.Ala995Pro)
n.3544G>C
c.*1280G>C (n.*1280G>C)
n.3266G>C
n.3560G>C
c.932G>C
n.3822G>C
c.3079G>C (p.Ala1027Pro)
c.1475G>C
c.-553+1774C>G (n.-553+1774C>G)
c.3235G>C (p.Ala1079Pro)
c.3139G>C (p.Ala1047Pro)
c.844G>C (p.Ala282Pro)
c.3262G>C (p.Ala1088Pro)
c.3166G>C (p.Ala1056Pro)
c.3106G>C (p.Ala1036Pro)
c.3010G>C (p.Ala1004Pro)
6g.43045282C>TCA364208651CUL7,KLC4n.1054G>A
c.2983G>A (p.Ala995Thr)
n.3544G>A
c.*1280G>A (n.*1280G>A)
n.3266G>A
n.3560G>A
c.932G>A
n.3822G>A
c.3079G>A (p.Ala1027Thr)
c.1475G>A
c.-553+1774C>T (n.-553+1774C>T)
c.3235G>A (p.Ala1079Thr)
c.3139G>A (p.Ala1047Thr)
c.844G>A (p.Ala282Thr)
c.3262G>A (p.Ala1088Thr)
c.3166G>A (p.Ala1056Thr)
c.3106G>A (p.Ala1036Thr)
c.3010G>A (p.Ala1004Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.43045283C>ACA364208653CUL7,KLC4n.1053G>T
c.2982G>T (p.Gln994His)
n.3543G>T
c.*1279G>T (n.*1279G>T)
n.3265G>T
n.3559G>T
c.931G>T
n.3821G>T
c.3078G>T (p.Gln1026His)
c.1474G>T
c.-553+1775C>A (n.-553+1775C>A)
c.3234G>T (p.Gln1078His)
c.3138G>T (p.Gln1046His)
c.843G>T (p.Gln281His)
c.3261G>T (p.Gln1087His)
c.3165G>T (p.Gln1055His)
c.3105G>T (p.Gln1035His)
c.3009G>T (p.Gln1003His)
6g.43045283C>GCA364208655CUL7,KLC4n.1053G>C
c.2982G>C (p.Gln994His)
n.3543G>C
c.*1279G>C (n.*1279G>C)
n.3265G>C
n.3559G>C
c.931G>C
n.3821G>C
c.3078G>C (p.Gln1026His)
c.1474G>C
c.-553+1775C>G (n.-553+1775C>G)
c.3234G>C (p.Gln1078His)
c.3138G>C (p.Gln1046His)
c.843G>C (p.Gln281His)
c.3261G>C (p.Gln1087His)
c.3165G>C (p.Gln1055His)
c.3105G>C (p.Gln1035His)
c.3009G>C (p.Gln1003His)
6g.43045283C>TCA450260419CUL7,KLC4n.1053G>A
c.2982G>A (p.Gln994=)
n.3543G>A
c.*1279G>A (n.*1279G>A)
n.3265G>A
n.3559G>A
c.931G>A
n.3821G>A
c.3078G>A (p.Gln1026=)
c.1474G>A
c.-553+1775C>T (n.-553+1775C>T)
c.3234G>A (p.Gln1078=)
c.3138G>A (p.Gln1046=)
c.843G>A (p.Gln281=)
c.3261G>A (p.Gln1087=)
c.3165G>A (p.Gln1055=)
c.3105G>A (p.Gln1035=)
c.3009G>A (p.Gln1003=)
6g.43045284T>ACA364208659CUL7,KLC4n.1052A>T
c.2981A>T (p.Gln994Leu)
n.3542A>T
c.*1278A>T (n.*1278A>T)
n.3264A>T
n.3558A>T
c.930A>T
n.3820A>T
c.3077A>T (p.Gln1026Leu)
c.1473A>T
c.-553+1776T>A (n.-553+1776T>A)
c.3233A>T (p.Gln1078Leu)
c.3137A>T (p.Gln1046Leu)
c.842A>T (p.Gln281Leu)
c.3260A>T (p.Gln1087Leu)
c.3164A>T (p.Gln1055Leu)
c.3104A>T (p.Gln1035Leu)
c.3008A>T (p.Gln1003Leu)
6g.43045284T>CCA364208662CUL7,KLC4n.1052A>G
c.2981A>G (p.Gln994Arg)
n.3542A>G
c.*1278A>G (n.*1278A>G)
n.3264A>G
n.3558A>G
c.930A>G
n.3820A>G
c.3077A>G (p.Gln1026Arg)
c.1473A>G
c.-553+1776T>C (n.-553+1776T>C)
c.3233A>G (p.Gln1078Arg)
c.3137A>G (p.Gln1046Arg)
c.842A>G (p.Gln281Arg)
c.3260A>G (p.Gln1087Arg)
c.3164A>G (p.Gln1055Arg)
c.3104A>G (p.Gln1035Arg)
c.3008A>G (p.Gln1003Arg)
6g.43045284T>GCA364208666CUL7,KLC4n.1052A>C
c.2981A>C (p.Gln994Pro)
n.3542A>C
c.*1278A>C (n.*1278A>C)
n.3264A>C
n.3558A>C
c.930A>C
n.3820A>C
c.3077A>C (p.Gln1026Pro)
c.1473A>C
c.-553+1776T>G (n.-553+1776T>G)
c.3233A>C (p.Gln1078Pro)
c.3137A>C (p.Gln1046Pro)
c.842A>C (p.Gln281Pro)
c.3260A>C (p.Gln1087Pro)
c.3164A>C (p.Gln1055Pro)
c.3104A>C (p.Gln1035Pro)
c.3008A>C (p.Gln1003Pro)
6g.43045285G>ACA364208669CUL7,KLC4n.1051C>T
c.2980C>T (p.Gln994Ter)
n.3541C>T
c.*1277C>T (n.*1277C>T)
n.3263C>T
n.3557C>T
c.929C>T
n.3819C>T
c.3076C>T (p.Gln1026Ter)
c.1472C>T
c.-553+1777G>A (n.-553+1777G>A)
c.3232C>T (p.Gln1078Ter)
c.3136C>T (p.Gln1046Ter)
c.841C>T (p.Gln281Ter)
c.3259C>T (p.Gln1087Ter)
c.3163C>T (p.Gln1055Ter)
c.3103C>T (p.Gln1035Ter)
c.3007C>T (p.Gln1003Ter)
6g.43045285G>CCA364208689CUL7,KLC4n.1051C>G
c.2980C>G (p.Gln994Glu)
n.3541C>G
c.*1277C>G (n.*1277C>G)
n.3263C>G
n.3557C>G
c.929C>G
n.3819C>G
c.3076C>G (p.Gln1026Glu)
c.1472C>G
c.-553+1777G>C (n.-553+1777G>C)
c.3232C>G (p.Gln1078Glu)
c.3136C>G (p.Gln1046Glu)
c.841C>G (p.Gln281Glu)
c.3259C>G (p.Gln1087Glu)
c.3163C>G (p.Gln1055Glu)
c.3103C>G (p.Gln1035Glu)
c.3007C>G (p.Gln1003Glu)
6g.43045285G>TCA364208679CUL7,KLC4n.1051C>A
c.2980C>A (p.Gln994Lys)
n.3541C>A
c.*1277C>A (n.*1277C>A)
n.3263C>A
n.3557C>A
c.929C>A
n.3819C>A
c.3076C>A (p.Gln1026Lys)
c.1472C>A
c.-553+1777G>T (n.-553+1777G>T)
c.3232C>A (p.Gln1078Lys)
c.3136C>A (p.Gln1046Lys)
c.841C>A (p.Gln281Lys)
c.3259C>A (p.Gln1087Lys)
c.3163C>A (p.Gln1055Lys)
c.3103C>A (p.Gln1035Lys)
c.3007C>A (p.Gln1003Lys)
6g.43045286T>ACA450260424CUL7,KLC4n.1050A>T
c.2979A>T (p.Ala993=)
n.3540A>T
c.*1276A>T (n.*1276A>T)
n.3262A>T
n.3556A>T
c.928A>T
n.3818A>T
c.3075A>T (p.Ala1025=)
c.1471A>T
c.-553+1778T>A (n.-553+1778T>A)
c.3231A>T (p.Ala1077=)
c.3135A>T (p.Ala1045=)
c.840A>T (p.Ala280=)
c.3258A>T (p.Ala1086=)
c.3162A>T (p.Ala1054=)
c.3102A>T (p.Ala1034=)
c.3006A>T (p.Ala1002=)
6g.43045286T>CCA3813628CUL7,KLC4n.1050A>G
c.2979A>G (p.Ala993=)
n.3540A>G
c.*1276A>G (n.*1276A>G)
n.3262A>G
n.3556A>G
c.928A>G
n.3818A>G
c.3075A>G (p.Ala1025=)
c.1471A>G
c.-553+1778T>C (n.-553+1778T>C)
c.3231A>G (p.Ala1077=)
c.3135A>G (p.Ala1045=)
c.840A>G (p.Ala280=)
c.3258A>G (p.Ala1086=)
c.3162A>G (p.Ala1054=)
c.3102A>G (p.Ala1034=)
c.3006A>G (p.Ala1002=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045286T>GCA450260425CUL7,KLC4n.1050A>C
c.2979A>C (p.Ala993=)
n.3540A>C
c.*1276A>C (n.*1276A>C)
n.3262A>C
n.3556A>C
c.928A>C
n.3818A>C
c.3075A>C (p.Ala1025=)
c.1471A>C
c.-553+1778T>G (n.-553+1778T>G)
c.3231A>C (p.Ala1077=)
c.3135A>C (p.Ala1045=)
c.840A>C (p.Ala280=)
c.3258A>C (p.Ala1086=)
c.3162A>C (p.Ala1054=)
c.3102A>C (p.Ala1034=)
c.3006A>C (p.Ala1002=)
6g.43045286T=CA1624355897CUL7,KLC4n.1050A=
c.2979A= (p.Ala993=)
n.3540A=
c.*1276A= (n.*1276A=)
n.3262A=
n.3556A=
c.928A=
n.3818A=
c.3075A= (p.Ala1025=)
c.1471A=
c.-553+1778T= (n.-553+1778T=)
c.3231A= (p.Ala1077=)
c.3135A= (p.Ala1045=)
c.840A= (p.Ala280=)
c.3258A= (p.Ala1086=)
c.3162A= (p.Ala1054=)
c.3102A= (p.Ala1034=)
c.3006A= (p.Ala1002=)
6g.43045287G>ACA138245781CUL7,KLC4n.1049C>T
c.2978C>T (p.Ala993Val)
n.3539C>T
c.*1275C>T (n.*1275C>T)
n.3261C>T
n.3555C>T
c.927C>T
n.3817C>T
c.3074C>T (p.Ala1025Val)
c.1470C>T
c.-553+1779G>A (n.-553+1779G>A)
c.3230C>T (p.Ala1077Val)
c.3134C>T (p.Ala1045Val)
c.839C>T (p.Ala280Val)
c.3257C>T (p.Ala1086Val)
c.3161C>T (p.Ala1054Val)
c.3101C>T (p.Ala1034Val)
c.3005C>T (p.Ala1002Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43045287G>CCA364208691CUL7,KLC4n.1049C>G
c.2978C>G (p.Ala993Gly)
n.3539C>G
c.*1275C>G (n.*1275C>G)
n.3261C>G
n.3555C>G
c.927C>G
n.3817C>G
c.3074C>G (p.Ala1025Gly)
c.1470C>G
c.-553+1779G>C (n.-553+1779G>C)
c.3230C>G (p.Ala1077Gly)
c.3134C>G (p.Ala1045Gly)
c.839C>G (p.Ala280Gly)
c.3257C>G (p.Ala1086Gly)
c.3161C>G (p.Ala1054Gly)
c.3101C>G (p.Ala1034Gly)
c.3005C>G (p.Ala1002Gly)
6g.43045287G=CA1624355898CUL7,KLC4n.1049C=
c.2978C= (p.Ala993=)
n.3539C=
c.*1275C= (n.*1275C=)
n.3261C=
n.3555C=
c.927C=
n.3817C=
c.3074C= (p.Ala1025=)
c.1470C=
c.-553+1779G= (n.-553+1779G=)
c.3230C= (p.Ala1077=)
c.3134C= (p.Ala1045=)
c.839C= (p.Ala280=)
c.3257C= (p.Ala1086=)
c.3161C= (p.Ala1054=)
c.3101C= (p.Ala1034=)
c.3005C= (p.Ala1002=)
6g.43045287G>TCA364208695CUL7,KLC4n.1049C>A
c.2978C>A (p.Ala993Glu)
n.3539C>A
c.*1275C>A (n.*1275C>A)
n.3261C>A
n.3555C>A
c.927C>A
n.3817C>A
c.3074C>A (p.Ala1025Glu)
c.1470C>A
c.-553+1779G>T (n.-553+1779G>T)
c.3230C>A (p.Ala1077Glu)
c.3134C>A (p.Ala1045Glu)
c.839C>A (p.Ala280Glu)
c.3257C>A (p.Ala1086Glu)
c.3161C>A (p.Ala1054Glu)
c.3101C>A (p.Ala1034Glu)
c.3005C>A (p.Ala1002Glu)
6g.43045288C>ACA364208707CUL7,KLC4n.1048G>T
c.2977G>T (p.Ala993Ser)
n.3538G>T
c.*1274G>T (n.*1274G>T)
n.3260G>T
n.3554G>T
c.926G>T
n.3816G>T
c.3073G>T (p.Ala1025Ser)
c.1469G>T
c.-553+1780C>A (n.-553+1780C>A)
c.3229G>T (p.Ala1077Ser)
c.3133G>T (p.Ala1045Ser)
c.838G>T (p.Ala280Ser)
c.3256G>T (p.Ala1086Ser)
c.3160G>T (p.Ala1054Ser)
c.3100G>T (p.Ala1034Ser)
c.3004G>T (p.Ala1002Ser)
6g.43045288C>GCA364208714CUL7,KLC4n.1048G>C
c.2977G>C (p.Ala993Pro)
n.3538G>C
c.*1274G>C (n.*1274G>C)
n.3260G>C
n.3554G>C
c.926G>C
n.3816G>C
c.3073G>C (p.Ala1025Pro)
c.1469G>C
c.-553+1780C>G (n.-553+1780C>G)
c.3229G>C (p.Ala1077Pro)
c.3133G>C (p.Ala1045Pro)
c.838G>C (p.Ala280Pro)
c.3256G>C (p.Ala1086Pro)
c.3160G>C (p.Ala1054Pro)
c.3100G>C (p.Ala1034Pro)
c.3004G>C (p.Ala1002Pro)
6g.43045288C>TCA364208712CUL7,KLC4n.1048G>A
c.2977G>A (p.Ala993Thr)
n.3538G>A
c.*1274G>A (n.*1274G>A)
n.3260G>A
n.3554G>A
c.926G>A
n.3816G>A
c.3073G>A (p.Ala1025Thr)
c.1469G>A
c.-553+1780C>T (n.-553+1780C>T)
c.3229G>A (p.Ala1077Thr)
c.3133G>A (p.Ala1045Thr)
c.838G>A (p.Ala280Thr)
c.3256G>A (p.Ala1086Thr)
c.3160G>A (p.Ala1054Thr)
c.3100G>A (p.Ala1034Thr)
c.3004G>A (p.Ala1002Thr)
 gnomAD v4
6g.43045289C>ACA450260432CUL7,KLC4n.1047G>T
c.2976G>T (p.Arg992=)
n.3537G>T
c.*1273G>T (n.*1273G>T)
n.3259G>T
n.3553G>T
c.925G>T
n.3815G>T
c.3072G>T (p.Arg1024=)
c.1468G>T
c.-553+1781C>A (n.-553+1781C>A)
c.3228G>T (p.Arg1076=)
c.3132G>T (p.Arg1044=)
c.837G>T (p.Arg279=)
c.3255G>T (p.Arg1085=)
c.3159G>T (p.Arg1053=)
c.3099G>T (p.Arg1033=)
c.3003G>T (p.Arg1001=)
6g.43045289C>GCA450260433CUL7,KLC4n.1047G>C
c.2976G>C (p.Arg992=)
n.3537G>C
c.*1273G>C (n.*1273G>C)
n.3259G>C
n.3553G>C
c.925G>C
n.3815G>C
c.3072G>C (p.Arg1024=)
c.1468G>C
c.-553+1781C>G (n.-553+1781C>G)
c.3228G>C (p.Arg1076=)
c.3132G>C (p.Arg1044=)
c.837G>C (p.Arg279=)
c.3255G>C (p.Arg1085=)
c.3159G>C (p.Arg1053=)
c.3099G>C (p.Arg1033=)
c.3003G>C (p.Arg1001=)
6g.43045289C>TCA450260434CUL7,KLC4n.1047G>A
c.2976G>A (p.Arg992=)
n.3537G>A
c.*1273G>A (n.*1273G>A)
n.3259G>A
n.3553G>A
c.925G>A
n.3815G>A
c.3072G>A (p.Arg1024=)
c.1468G>A
c.-553+1781C>T (n.-553+1781C>T)
c.3228G>A (p.Arg1076=)
c.3132G>A (p.Arg1044=)
c.837G>A (p.Arg279=)
c.3255G>A (p.Arg1085=)
c.3159G>A (p.Arg1053=)
c.3099G>A (p.Arg1033=)
c.3003G>A (p.Arg1001=)
6g.43045290C>ACA364208722CUL7,KLC4n.1046G>T
c.2975G>T (p.Arg992Leu)
n.3536G>T
c.*1272G>T (n.*1272G>T)
n.3258G>T
n.3552G>T
c.924G>T
n.3814G>T
c.3071G>T (p.Arg1024Leu)
c.1467G>T
c.-553+1782C>A (n.-553+1782C>A)
c.3227G>T (p.Arg1076Leu)
c.3131G>T (p.Arg1044Leu)
c.836G>T (p.Arg279Leu)
c.3254G>T (p.Arg1085Leu)
c.3158G>T (p.Arg1053Leu)
c.3098G>T (p.Arg1033Leu)
c.3002G>T (p.Arg1001Leu)
6g.43045290C=CA1624355899CUL7,KLC4n.1046G=
c.2975G= (p.Arg992=)
n.3536G=
c.*1272G= (n.*1272G=)
n.3258G=
n.3552G=
c.924G=
n.3814G=
c.3071G= (p.Arg1024=)
c.1467G=
c.-553+1782C= (n.-553+1782C=)
c.3227G= (p.Arg1076=)
c.3131G= (p.Arg1044=)
c.836G= (p.Arg279=)
c.3254G= (p.Arg1085=)
c.3158G= (p.Arg1053=)
c.3098G= (p.Arg1033=)
c.3002G= (p.Arg1001=)
6g.43045290C>GCA364208726CUL7,KLC4n.1046G>C
c.2975G>C (p.Arg992Pro)
n.3536G>C
c.*1272G>C (n.*1272G>C)
n.3258G>C
n.3552G>C
c.924G>C
n.3814G>C
c.3071G>C (p.Arg1024Pro)
c.1467G>C
c.-553+1782C>G (n.-553+1782C>G)
c.3227G>C (p.Arg1076Pro)
c.3131G>C (p.Arg1044Pro)
c.836G>C (p.Arg279Pro)
c.3254G>C (p.Arg1085Pro)
c.3158G>C (p.Arg1053Pro)
c.3098G>C (p.Arg1033Pro)
c.3002G>C (p.Arg1001Pro)
 gnomAD v4
6g.43045290C>TCA3813629CUL7,KLC4n.1046G>A
c.2975G>A (p.Arg992Gln)
n.3536G>A
c.*1272G>A (n.*1272G>A)
n.3258G>A
n.3552G>A
c.924G>A
n.3814G>A
c.3071G>A (p.Arg1024Gln)
c.1467G>A
c.-553+1782C>T (n.-553+1782C>T)
c.3227G>A (p.Arg1076Gln)
c.3131G>A (p.Arg1044Gln)
c.836G>A (p.Arg279Gln)
c.3254G>A (p.Arg1085Gln)
c.3158G>A (p.Arg1053Gln)
c.3098G>A (p.Arg1033Gln)
c.3002G>A (p.Arg1001Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045291G>ACA364208732CUL7,KLC4n.1045C>T
c.2974C>T (p.Arg992Trp)
n.3535C>T
c.*1271C>T (n.*1271C>T)
n.3257C>T
n.3551C>T
c.923C>T
n.3813C>T
c.3070C>T (p.Arg1024Trp)
c.1466C>T
c.-553+1783G>A (n.-553+1783G>A)
c.3226C>T (p.Arg1076Trp)
c.3130C>T (p.Arg1044Trp)
c.835C>T (p.Arg279Trp)
c.3253C>T (p.Arg1085Trp)
c.3157C>T (p.Arg1053Trp)
c.3097C>T (p.Arg1033Trp)
c.3001C>T (p.Arg1001Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.43045291G>CCA364208733CUL7,KLC4n.1045C>G
c.2974C>G (p.Arg992Gly)
n.3535C>G
c.*1271C>G (n.*1271C>G)
n.3257C>G
n.3551C>G
c.923C>G
n.3813C>G
c.3070C>G (p.Arg1024Gly)
c.1466C>G
c.-553+1783G>C (n.-553+1783G>C)
c.3226C>G (p.Arg1076Gly)
c.3130C>G (p.Arg1044Gly)
c.835C>G (p.Arg279Gly)
c.3253C>G (p.Arg1085Gly)
c.3157C>G (p.Arg1053Gly)
c.3097C>G (p.Arg1033Gly)
c.3001C>G (p.Arg1001Gly)
6g.43045291G=CA1624355900CUL7,KLC4n.1045C=
c.2974C= (p.Arg992=)
n.3535C=
c.*1271C= (n.*1271C=)
n.3257C=
n.3551C=
c.923C=
n.3813C=
c.3070C= (p.Arg1024=)
c.1466C=
c.-553+1783G= (n.-553+1783G=)
c.3226C= (p.Arg1076=)
c.3130C= (p.Arg1044=)
c.835C= (p.Arg279=)
c.3253C= (p.Arg1085=)
c.3157C= (p.Arg1053=)
c.3097C= (p.Arg1033=)
c.3001C= (p.Arg1001=)
6g.43045291G>TCA450260436CUL7,KLC4n.1045C>A
c.2974C>A (p.Arg992=)
n.3535C>A
c.*1271C>A (n.*1271C>A)
n.3257C>A
n.3551C>A
c.923C>A
n.3813C>A
c.3070C>A (p.Arg1024=)
c.1466C>A
c.-553+1783G>T (n.-553+1783G>T)
c.3226C>A (p.Arg1076=)
c.3130C>A (p.Arg1044=)
c.835C>A (p.Arg279=)
c.3253C>A (p.Arg1085=)
c.3157C>A (p.Arg1053=)
c.3097C>A (p.Arg1033=)
c.3001C>A (p.Arg1001=)
6g.43045292A>CCA450260442CUL7,KLC4n.1044T>G
c.2973T>G (p.Val991=)
n.3534T>G
c.*1270T>G (n.*1270T>G)
n.3256T>G
n.3550T>G
c.922T>G
n.3812T>G
c.3069T>G (p.Val1023=)
c.1465T>G
c.-553+1784A>C (n.-553+1784A>C)
c.3225T>G (p.Val1075=)
c.3129T>G (p.Val1043=)
c.834T>G (p.Val278=)
c.3252T>G (p.Val1084=)
c.3156T>G (p.Val1052=)
c.3096T>G (p.Val1032=)
c.3000T>G (p.Val1000=)
6g.43045292A>GCA450260443CUL7,KLC4n.1044T>C
c.2973T>C (p.Val991=)
n.3534T>C
c.*1270T>C (n.*1270T>C)
n.3256T>C
n.3550T>C
c.922T>C
n.3812T>C
c.3069T>C (p.Val1023=)
c.1465T>C
c.-553+1784A>G (n.-553+1784A>G)
c.3225T>C (p.Val1075=)
c.3129T>C (p.Val1043=)
c.834T>C (p.Val278=)
c.3252T>C (p.Val1084=)
c.3156T>C (p.Val1052=)
c.3096T>C (p.Val1032=)
c.3000T>C (p.Val1000=)
6g.43045292A>TCA450260445CUL7,KLC4n.1044T>A
c.2973T>A (p.Val991=)
n.3534T>A
c.*1270T>A (n.*1270T>A)
n.3256T>A
n.3550T>A
c.922T>A
n.3812T>A
c.3069T>A (p.Val1023=)
c.1465T>A
c.-553+1784A>T (n.-553+1784A>T)
c.3225T>A (p.Val1075=)
c.3129T>A (p.Val1043=)
c.834T>A (p.Val278=)
c.3252T>A (p.Val1084=)
c.3156T>A (p.Val1052=)
c.3096T>A (p.Val1032=)
c.3000T>A (p.Val1000=)
6g.43045293A>CCA364208734CUL7,KLC4n.1043T>G
c.2972T>G (p.Val991Gly)
n.3533T>G
c.*1269T>G (n.*1269T>G)
n.3255T>G
n.3549T>G
c.921T>G
n.3811T>G
c.3068T>G (p.Val1023Gly)
c.1464T>G
c.-553+1785A>C (n.-553+1785A>C)
c.3224T>G (p.Val1075Gly)
c.3128T>G (p.Val1043Gly)
c.833T>G (p.Val278Gly)
c.3251T>G (p.Val1084Gly)
c.3155T>G (p.Val1052Gly)
c.3095T>G (p.Val1032Gly)
c.2999T>G (p.Val1000Gly)
6g.43045293A>GCA364208735CUL7,KLC4n.1043T>C
c.2972T>C (p.Val991Ala)
n.3533T>C
c.*1269T>C (n.*1269T>C)
n.3255T>C
n.3549T>C
c.921T>C
n.3811T>C
c.3068T>C (p.Val1023Ala)
c.1464T>C
c.-553+1785A>G (n.-553+1785A>G)
c.3224T>C (p.Val1075Ala)
c.3128T>C (p.Val1043Ala)
c.833T>C (p.Val278Ala)
c.3251T>C (p.Val1084Ala)
c.3155T>C (p.Val1052Ala)
c.3095T>C (p.Val1032Ala)
c.2999T>C (p.Val1000Ala)
6g.43045293A>TCA364208736CUL7,KLC4n.1043T>A
c.2972T>A (p.Val991Asp)
n.3533T>A
c.*1269T>A (n.*1269T>A)
n.3255T>A
n.3549T>A
c.921T>A
n.3811T>A
c.3068T>A (p.Val1023Asp)
c.1464T>A
c.-553+1785A>T (n.-553+1785A>T)
c.3224T>A (p.Val1075Asp)
c.3128T>A (p.Val1043Asp)
c.833T>A (p.Val278Asp)
c.3251T>A (p.Val1084Asp)
c.3155T>A (p.Val1052Asp)
c.3095T>A (p.Val1032Asp)
c.2999T>A (p.Val1000Asp)
6g.43045294C>ACA3813630CUL7,KLC4n.1042G>T
c.2971G>T (p.Val991Phe)
n.3532G>T
c.*1268G>T (n.*1268G>T)
n.3254G>T
n.3548G>T
c.920G>T
n.3810G>T
c.3067G>T (p.Val1023Phe)
c.1463G>T
c.-553+1786C>A (n.-553+1786C>A)
c.3223G>T (p.Val1075Phe)
c.3127G>T (p.Val1043Phe)
c.832G>T (p.Val278Phe)
c.3250G>T (p.Val1084Phe)
c.3154G>T (p.Val1052Phe)
c.3094G>T (p.Val1032Phe)
c.2998G>T (p.Val1000Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43045294C=CA1624355901CUL7,KLC4n.1042G=
c.2971G= (p.Val991=)
n.3532G=
c.*1268G= (n.*1268G=)
n.3254G=
n.3548G=
c.920G=
n.3810G=
c.3067G= (p.Val1023=)
c.1463G=
c.-553+1786C= (n.-553+1786C=)
c.3223G= (p.Val1075=)
c.3127G= (p.Val1043=)
c.832G= (p.Val278=)
c.3250G= (p.Val1084=)
c.3154G= (p.Val1052=)
c.3094G= (p.Val1032=)
c.2998G= (p.Val1000=)
6g.43045294C>GCA364208742CUL7,KLC4n.1042G>C
c.2971G>C (p.Val991Leu)
n.3532G>C
c.*1268G>C (n.*1268G>C)
n.3254G>C
n.3548G>C
c.920G>C
n.3810G>C
c.3067G>C (p.Val1023Leu)
c.1463G>C
c.-553+1786C>G (n.-553+1786C>G)
c.3223G>C (p.Val1075Leu)
c.3127G>C (p.Val1043Leu)
c.832G>C (p.Val278Leu)
c.3250G>C (p.Val1084Leu)
c.3154G>C (p.Val1052Leu)
c.3094G>C (p.Val1032Leu)
c.2998G>C (p.Val1000Leu)
6g.43045294C>TCA364208745CUL7,KLC4n.1042G>A
c.2971G>A (p.Val991Ile)
n.3532G>A
c.*1268G>A (n.*1268G>A)
n.3254G>A
n.3548G>A
c.920G>A
n.3810G>A
c.3067G>A (p.Val1023Ile)
c.1463G>A
c.-553+1786C>T (n.-553+1786C>T)
c.3223G>A (p.Val1075Ile)
c.3127G>A (p.Val1043Ile)
c.832G>A (p.Val278Ile)
c.3250G>A (p.Val1084Ile)
c.3154G>A (p.Val1052Ile)
c.3094G>A (p.Val1032Ile)
c.2998G>A (p.Val1000Ile)
 gnomAD v4
6g.43045295C>ACA364208746CUL7,KLC4n.1041G>T
c.2970G>T (p.Met990Ile)
n.3531G>T
c.*1267G>T (n.*1267G>T)
n.3253G>T
n.3547G>T
c.919G>T
n.3809G>T
c.3066G>T (p.Met1022Ile)
c.1462G>T
c.-553+1787C>A (n.-553+1787C>A)
c.3222G>T (p.Met1074Ile)
c.3126G>T (p.Met1042Ile)
c.831G>T (p.Met277Ile)
c.3249G>T (p.Met1083Ile)
c.3153G>T (p.Met1051Ile)
c.3093G>T (p.Met1031Ile)
c.2997G>T (p.Met999Ile)
6g.43045295C>GCA364208748CUL7,KLC4n.1041G>C
c.2970G>C (p.Met990Ile)
n.3531G>C
c.*1267G>C (n.*1267G>C)
n.3253G>C
n.3547G>C
c.919G>C
n.3809G>C
c.3066G>C (p.Met1022Ile)
c.1462G>C
c.-553+1787C>G (n.-553+1787C>G)
c.3222G>C (p.Met1074Ile)
c.3126G>C (p.Met1042Ile)
c.831G>C (p.Met277Ile)
c.3249G>C (p.Met1083Ile)
c.3153G>C (p.Met1051Ile)
c.3093G>C (p.Met1031Ile)
c.2997G>C (p.Met999Ile)
6g.43045295C>TCA364208747CUL7,KLC4n.1041G>A
c.2970G>A (p.Met990Ile)
n.3531G>A
c.*1267G>A (n.*1267G>A)
n.3253G>A
n.3547G>A
c.919G>A
n.3809G>A
c.3066G>A (p.Met1022Ile)
c.1462G>A
c.-553+1787C>T (n.-553+1787C>T)
c.3222G>A (p.Met1074Ile)
c.3126G>A (p.Met1042Ile)
c.831G>A (p.Met277Ile)
c.3249G>A (p.Met1083Ile)
c.3153G>A (p.Met1051Ile)
c.3093G>A (p.Met1031Ile)
c.2997G>A (p.Met999Ile)
6g.43045296A>CCA364208749CUL7,KLC4n.1040T>G
c.2969T>G (p.Met990Arg)
n.3530T>G
c.*1266T>G (n.*1266T>G)
n.3252T>G
n.3546T>G
c.918T>G
n.3808T>G
c.3065T>G (p.Met1022Arg)
c.1461T>G
c.-553+1788A>C (n.-553+1788A>C)
c.3221T>G (p.Met1074Arg)
c.3125T>G (p.Met1042Arg)
c.830T>G (p.Met277Arg)
c.3248T>G (p.Met1083Arg)
c.3152T>G (p.Met1051Arg)
c.3092T>G (p.Met1031Arg)
c.2996T>G (p.Met999Arg)
6g.43045296A>GCA364208751CUL7,KLC4n.1040T>C
c.2969T>C (p.Met990Thr)
n.3530T>C
c.*1266T>C (n.*1266T>C)
n.3252T>C
n.3546T>C
c.918T>C
n.3808T>C
c.3065T>C (p.Met1022Thr)
c.1461T>C
c.-553+1788A>G (n.-553+1788A>G)
c.3221T>C (p.Met1074Thr)
c.3125T>C (p.Met1042Thr)
c.830T>C (p.Met277Thr)
c.3248T>C (p.Met1083Thr)
c.3152T>C (p.Met1051Thr)
c.3092T>C (p.Met1031Thr)
c.2996T>C (p.Met999Thr)
6g.43045296A>TCA364208754CUL7,KLC4n.1040T>A
c.2969T>A (p.Met990Lys)
n.3530T>A
c.*1266T>A (n.*1266T>A)
n.3252T>A
n.3546T>A
c.918T>A
n.3808T>A
c.3065T>A (p.Met1022Lys)
c.1461T>A
c.-553+1788A>T (n.-553+1788A>T)
c.3221T>A (p.Met1074Lys)
c.3125T>A (p.Met1042Lys)
c.830T>A (p.Met277Lys)
c.3248T>A (p.Met1083Lys)
c.3152T>A (p.Met1051Lys)
c.3092T>A (p.Met1031Lys)
c.2996T>A (p.Met999Lys)
6g.43045297T>ACA364208757CUL7,KLC4n.1039A>T
c.2968A>T (p.Met990Leu)
n.3529A>T
c.*1265A>T (n.*1265A>T)
n.3251A>T
n.3545A>T
c.917A>T
n.3807A>T
c.3064A>T (p.Met1022Leu)
c.1460A>T
c.-553+1789T>A (n.-553+1789T>A)
c.3220A>T (p.Met1074Leu)
c.3124A>T (p.Met1042Leu)
c.829A>T (p.Met277Leu)
c.3247A>T (p.Met1083Leu)
c.3151A>T (p.Met1051Leu)
c.3091A>T (p.Met1031Leu)
c.2995A>T (p.Met999Leu)
6g.43045297T>CCA3813631CUL7,KLC4n.1039A>G
c.2968A>G (p.Met990Val)
n.3529A>G
c.*1265A>G (n.*1265A>G)
n.3251A>G
n.3545A>G
c.917A>G
n.3807A>G
c.3064A>G (p.Met1022Val)
c.1460A>G
c.-553+1789T>C (n.-553+1789T>C)
c.3220A>G (p.Met1074Val)
c.3124A>G (p.Met1042Val)
c.829A>G (p.Met277Val)
c.3247A>G (p.Met1083Val)
c.3151A>G (p.Met1051Val)
c.3091A>G (p.Met1031Val)
c.2995A>G (p.Met999Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045297T>GCA364208762CUL7,KLC4n.1039A>C
c.2968A>C (p.Met990Leu)
n.3529A>C
c.*1265A>C (n.*1265A>C)
n.3251A>C
n.3545A>C
c.917A>C
n.3807A>C
c.3064A>C (p.Met1022Leu)
c.1460A>C
c.-553+1789T>G (n.-553+1789T>G)
c.3220A>C (p.Met1074Leu)
c.3124A>C (p.Met1042Leu)
c.829A>C (p.Met277Leu)
c.3247A>C (p.Met1083Leu)
c.3151A>C (p.Met1051Leu)
c.3091A>C (p.Met1031Leu)
c.2995A>C (p.Met999Leu)
6g.43045297T=CA1624355902CUL7,KLC4n.1039A=
c.2968A= (p.Met990=)
n.3529A=
c.*1265A= (n.*1265A=)
n.3251A=
n.3545A=
c.917A=
n.3807A=
c.3064A= (p.Met1022=)
c.1460A=
c.-553+1789T= (n.-553+1789T=)
c.3220A= (p.Met1074=)
c.3124A= (p.Met1042=)
c.829A= (p.Met277=)
c.3247A= (p.Met1083=)
c.3151A= (p.Met1051=)
c.3091A= (p.Met1031=)
c.2995A= (p.Met999=)
6g.43045298G>ACA450260451CUL7,KLC4n.1038C>T
c.2967C>T (p.Tyr989=)
n.3528C>T
c.*1264C>T (n.*1264C>T)
n.3250C>T
n.3544C>T
c.916C>T
n.3806C>T
c.3063C>T (p.Tyr1021=)
c.1459C>T
c.-553+1790G>A (n.-553+1790G>A)
c.3219C>T (p.Tyr1073=)
c.3123C>T (p.Tyr1041=)
c.828C>T (p.Tyr276=)
c.3246C>T (p.Tyr1082=)
c.3150C>T (p.Tyr1050=)
c.3090C>T (p.Tyr1030=)
c.2994C>T (p.Tyr998=)
 gnomAD v4
6g.43045298G>CCA364208764CUL7,KLC4n.1038C>G
c.2967C>G (p.Tyr989Ter)
n.3528C>G
c.*1264C>G (n.*1264C>G)
n.3250C>G
n.3544C>G
c.916C>G
n.3806C>G
c.3063C>G (p.Tyr1021Ter)
c.1459C>G
c.-553+1790G>C (n.-553+1790G>C)
c.3219C>G (p.Tyr1073Ter)
c.3123C>G (p.Tyr1041Ter)
c.828C>G (p.Tyr276Ter)
c.3246C>G (p.Tyr1082Ter)
c.3150C>G (p.Tyr1050Ter)
c.3090C>G (p.Tyr1030Ter)
c.2994C>G (p.Tyr998Ter)
6g.43045298G>TCA364208766CUL7,KLC4n.1038C>A
c.2967C>A (p.Tyr989Ter)
n.3528C>A
c.*1264C>A (n.*1264C>A)
n.3250C>A
n.3544C>A
c.916C>A
n.3806C>A
c.3063C>A (p.Tyr1021Ter)
c.1459C>A
c.-553+1790G>T (n.-553+1790G>T)
c.3219C>A (p.Tyr1073Ter)
c.3123C>A (p.Tyr1041Ter)
c.828C>A (p.Tyr276Ter)
c.3246C>A (p.Tyr1082Ter)
c.3150C>A (p.Tyr1050Ter)
c.3090C>A (p.Tyr1030Ter)
c.2994C>A (p.Tyr998Ter)
6g.43045299T>ACA364208770CUL7,KLC4n.1037A>T
c.2966A>T (p.Tyr989Phe)
n.3527A>T
c.*1263A>T (n.*1263A>T)
n.3249A>T
n.3543A>T
c.915A>T
n.3805A>T
c.3062A>T (p.Tyr1021Phe)
c.1458A>T
c.-553+1791T>A (n.-553+1791T>A)
c.3218A>T (p.Tyr1073Phe)
c.3122A>T (p.Tyr1041Phe)
c.827A>T (p.Tyr276Phe)
c.3245A>T (p.Tyr1082Phe)
c.3149A>T (p.Tyr1050Phe)
c.3089A>T (p.Tyr1030Phe)
c.2993A>T (p.Tyr998Phe)
6g.43045299T>CCA364208774CUL7,KLC4n.1037A>G
c.2966A>G (p.Tyr989Cys)
n.3527A>G
c.*1263A>G (n.*1263A>G)
n.3249A>G
n.3543A>G
c.915A>G
n.3805A>G
c.3062A>G (p.Tyr1021Cys)
c.1458A>G
c.-553+1791T>C (n.-553+1791T>C)
c.3218A>G (p.Tyr1073Cys)
c.3122A>G (p.Tyr1041Cys)
c.827A>G (p.Tyr276Cys)
c.3245A>G (p.Tyr1082Cys)
c.3149A>G (p.Tyr1050Cys)
c.3089A>G (p.Tyr1030Cys)
c.2993A>G (p.Tyr998Cys)
 COSMIC COSMIC
6g.43045299T>GCA364208775CUL7,KLC4n.1037A>C
c.2966A>C (p.Tyr989Ser)
n.3527A>C
c.*1263A>C (n.*1263A>C)
n.3249A>C
n.3543A>C
c.915A>C
n.3805A>C
c.3062A>C (p.Tyr1021Ser)
c.1458A>C
c.-553+1791T>G (n.-553+1791T>G)
c.3218A>C (p.Tyr1073Ser)
c.3122A>C (p.Tyr1041Ser)
c.827A>C (p.Tyr276Ser)
c.3245A>C (p.Tyr1082Ser)
c.3149A>C (p.Tyr1050Ser)
c.3089A>C (p.Tyr1030Ser)
c.2993A>C (p.Tyr998Ser)
6g.43045300A=CA1624355903CUL7,KLC4n.1036T=
c.2965T= (p.Tyr989=)
n.3526T=
c.*1262T= (n.*1262T=)
n.3248T=
n.3542T=
c.914T=
n.3804T=
c.3061T= (p.Tyr1021=)
c.1457T=
c.-553+1792A= (n.-553+1792A=)
c.3217T= (p.Tyr1073=)
c.3121T= (p.Tyr1041=)
c.826T= (p.Tyr276=)
c.3244T= (p.Tyr1082=)
c.3148T= (p.Tyr1050=)
c.3088T= (p.Tyr1030=)
c.2992T= (p.Tyr998=)
6g.43045300A>CCA364208778CUL7,KLC4n.1036T>G
c.2965T>G (p.Tyr989Asp)
n.3526T>G
c.*1262T>G (n.*1262T>G)
n.3248T>G
n.3542T>G
c.914T>G
n.3804T>G
c.3061T>G (p.Tyr1021Asp)
c.1457T>G
c.-553+1792A>C (n.-553+1792A>C)
c.3217T>G (p.Tyr1073Asp)
c.3121T>G (p.Tyr1041Asp)
c.826T>G (p.Tyr276Asp)
c.3244T>G (p.Tyr1082Asp)
c.3148T>G (p.Tyr1050Asp)
c.3088T>G (p.Tyr1030Asp)
c.2992T>G (p.Tyr998Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.43045300A>GCA364208777CUL7,KLC4n.1036T>C
c.2965T>C (p.Tyr989His)
n.3526T>C
c.*1262T>C (n.*1262T>C)
n.3248T>C
n.3542T>C
c.914T>C
n.3804T>C
c.3061T>C (p.Tyr1021His)
c.1457T>C
c.-553+1792A>G (n.-553+1792A>G)
c.3217T>C (p.Tyr1073His)
c.3121T>C (p.Tyr1041His)
c.826T>C (p.Tyr276His)
c.3244T>C (p.Tyr1082His)
c.3148T>C (p.Tyr1050His)
c.3088T>C (p.Tyr1030His)
c.2992T>C (p.Tyr998His)
6g.43045300A>TCA364208776CUL7,KLC4n.1036T>A
c.2965T>A (p.Tyr989Asn)
n.3526T>A
c.*1262T>A (n.*1262T>A)
n.3248T>A
n.3542T>A
c.914T>A
n.3804T>A
c.3061T>A (p.Tyr1021Asn)
c.1457T>A
c.-553+1792A>T (n.-553+1792A>T)
c.3217T>A (p.Tyr1073Asn)
c.3121T>A (p.Tyr1041Asn)
c.826T>A (p.Tyr276Asn)
c.3244T>A (p.Tyr1082Asn)
c.3148T>A (p.Tyr1050Asn)
c.3088T>A (p.Tyr1030Asn)
c.2992T>A (p.Tyr998Asn)
6g.43045301G>ACA450260455CUL7,KLC4n.1035C>T
c.2964C>T (p.Phe988=)
n.3525C>T
c.*1261C>T (n.*1261C>T)
n.3247C>T
n.3541C>T
c.913C>T
n.3803C>T
c.3060C>T (p.Phe1020=)
c.1456C>T
c.-553+1793G>A (n.-553+1793G>A)
c.3216C>T (p.Phe1072=)
c.3120C>T (p.Phe1040=)
c.825C>T (p.Phe275=)
c.3243C>T (p.Phe1081=)
c.3147C>T (p.Phe1049=)
c.3087C>T (p.Phe1029=)
c.2991C>T (p.Phe997=)
6g.43045301G>CCA364208781CUL7,KLC4n.1035C>G
c.2964C>G (p.Phe988Leu)
n.3525C>G
c.*1261C>G (n.*1261C>G)
n.3247C>G
n.3541C>G
c.913C>G
n.3803C>G
c.3060C>G (p.Phe1020Leu)
c.1456C>G
c.-553+1793G>C (n.-553+1793G>C)
c.3216C>G (p.Phe1072Leu)
c.3120C>G (p.Phe1040Leu)
c.825C>G (p.Phe275Leu)
c.3243C>G (p.Phe1081Leu)
c.3147C>G (p.Phe1049Leu)
c.3087C>G (p.Phe1029Leu)
c.2991C>G (p.Phe997Leu)
6g.43045301G>TCA364208784CUL7,KLC4n.1035C>A
c.2964C>A (p.Phe988Leu)
n.3525C>A
c.*1261C>A (n.*1261C>A)
n.3247C>A
n.3541C>A
c.913C>A
n.3803C>A
c.3060C>A (p.Phe1020Leu)
c.1456C>A
c.-553+1793G>T (n.-553+1793G>T)
c.3216C>A (p.Phe1072Leu)
c.3120C>A (p.Phe1040Leu)
c.825C>A (p.Phe275Leu)
c.3243C>A (p.Phe1081Leu)
c.3147C>A (p.Phe1049Leu)
c.3087C>A (p.Phe1029Leu)
c.2991C>A (p.Phe997Leu)
6g.43045302A=CA1624355904CUL7,KLC4n.1034T=
c.2963T= (p.Phe988=)
n.3524T=
c.*1260T= (n.*1260T=)
n.3246T=
n.3540T=
c.912T=
n.3802T=
c.3059T= (p.Phe1020=)
c.1455T=
c.-553+1794A= (n.-553+1794A=)
c.3215T= (p.Phe1072=)
c.3119T= (p.Phe1040=)
c.824T= (p.Phe275=)
c.3242T= (p.Phe1081=)
c.3146T= (p.Phe1049=)
c.3086T= (p.Phe1029=)
c.2990T= (p.Phe997=)
6g.43045302A>CCA364208787CUL7,KLC4n.1034T>G
c.2963T>G (p.Phe988Cys)
n.3524T>G
c.*1260T>G (n.*1260T>G)
n.3246T>G
n.3540T>G
c.912T>G
n.3802T>G
c.3059T>G (p.Phe1020Cys)
c.1455T>G
c.-553+1794A>C (n.-553+1794A>C)
c.3215T>G (p.Phe1072Cys)
c.3119T>G (p.Phe1040Cys)
c.824T>G (p.Phe275Cys)
c.3242T>G (p.Phe1081Cys)
c.3146T>G (p.Phe1049Cys)
c.3086T>G (p.Phe1029Cys)
c.2990T>G (p.Phe997Cys)
6g.43045302A>GCA3813632CUL7,KLC4n.1034T>C
c.2963T>C (p.Phe988Ser)
n.3524T>C
c.*1260T>C (n.*1260T>C)
n.3246T>C
n.3540T>C
c.912T>C
n.3802T>C
c.3059T>C (p.Phe1020Ser)
c.1455T>C
c.-553+1794A>G (n.-553+1794A>G)
c.3215T>C (p.Phe1072Ser)
c.3119T>C (p.Phe1040Ser)
c.824T>C (p.Phe275Ser)
c.3242T>C (p.Phe1081Ser)
c.3146T>C (p.Phe1049Ser)
c.3086T>C (p.Phe1029Ser)
c.2990T>C (p.Phe997Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43045302A>TCA364208798CUL7,KLC4n.1034T>A
c.2963T>A (p.Phe988Tyr)
n.3524T>A
c.*1260T>A (n.*1260T>A)
n.3246T>A
n.3540T>A
c.912T>A
n.3802T>A
c.3059T>A (p.Phe1020Tyr)
c.1455T>A
c.-553+1794A>T (n.-553+1794A>T)
c.3215T>A (p.Phe1072Tyr)
c.3119T>A (p.Phe1040Tyr)
c.824T>A (p.Phe275Tyr)
c.3242T>A (p.Phe1081Tyr)
c.3146T>A (p.Phe1049Tyr)
c.3086T>A (p.Phe1029Tyr)
c.2990T>A (p.Phe997Tyr)
6g.43045303A>CCA364208803CUL7,KLC4n.1033T>G
c.2962T>G (p.Phe988Val)
n.3523T>G
c.*1259T>G (n.*1259T>G)
n.3245T>G
n.3539T>G
c.911T>G
n.3801T>G
c.3058T>G (p.Phe1020Val)
c.1454T>G
c.-553+1795A>C (n.-553+1795A>C)
c.3214T>G (p.Phe1072Val)
c.3118T>G (p.Phe1040Val)
c.823T>G (p.Phe275Val)
c.3241T>G (p.Phe1081Val)
c.3145T>G (p.Phe1049Val)
c.3085T>G (p.Phe1029Val)
c.2989T>G (p.Phe997Val)
6g.43045303A>GCA364208809CUL7,KLC4n.1033T>C
c.2962T>C (p.Phe988Leu)
n.3523T>C
c.*1259T>C (n.*1259T>C)
n.3245T>C
n.3539T>C
c.911T>C
n.3801T>C
c.3058T>C (p.Phe1020Leu)
c.1454T>C
c.-553+1795A>G (n.-553+1795A>G)
c.3214T>C (p.Phe1072Leu)
c.3118T>C (p.Phe1040Leu)
c.823T>C (p.Phe275Leu)
c.3241T>C (p.Phe1081Leu)
c.3145T>C (p.Phe1049Leu)
c.3085T>C (p.Phe1029Leu)
c.2989T>C (p.Phe997Leu)
6g.43045303A>TCA364208811CUL7,KLC4n.1033T>A
c.2962T>A (p.Phe988Ile)
n.3523T>A
c.*1259T>A (n.*1259T>A)
n.3245T>A
n.3539T>A
c.911T>A
n.3801T>A
c.3058T>A (p.Phe1020Ile)
c.1454T>A
c.-553+1795A>T (n.-553+1795A>T)
c.3214T>A (p.Phe1072Ile)
c.3118T>A (p.Phe1040Ile)
c.823T>A (p.Phe275Ile)
c.3241T>A (p.Phe1081Ile)
c.3145T>A (p.Phe1049Ile)
c.3085T>A (p.Phe1029Ile)
c.2989T>A (p.Phe997Ile)
6g.43045307_43045324delCA2695206333CUL7,KLC4n.1016_1033del
c.2945_2962del (p.Cys982_Leu987del)
n.3506_3523del
c.*1242_*1259del (n.*1242_*1259del)
n.3228_3245del
n.3522_3539del
c.894_911del
n.3784_3801del
c.3041_3058del (p.Cys1014_Leu1019del)
c.1437_1454del
c.-553+1799_-553+1816del (n.-553+1799_-553+1816del)
c.3197_3214del (p.Cys1066_Leu1071del)
c.3101_3118del (p.Cys1034_Leu1039del)
c.806_823del (p.Cys269_Leu274del)
c.3224_3241del (p.Cys1075_Leu1080del)
c.3128_3145del (p.Cys1043_Leu1048del)
c.3068_3085del (p.Cys1023_Leu1028del)
c.2972_2989del (p.Cys991_Leu996del)
6g.43045304G>ACA450260463CUL7,KLC4n.1032C>T
c.2961C>T (p.Leu987=)
n.3522C>T
c.*1258C>T (n.*1258C>T)
n.3244C>T
n.3538C>T
c.910C>T
n.3800C>T
c.3057C>T (p.Leu1019=)
c.1453C>T
c.-553+1796G>A (n.-553+1796G>A)
c.3213C>T (p.Leu1071=)
c.3117C>T (p.Leu1039=)
c.822C>T (p.Leu274=)
c.3240C>T (p.Leu1080=)
c.3144C>T (p.Leu1048=)
c.3084C>T (p.Leu1028=)
c.2988C>T (p.Leu996=)
 gnomAD v4
6g.43045304G>CCA450260464CUL7,KLC4n.1032C>G
c.2961C>G (p.Leu987=)
n.3522C>G
c.*1258C>G (n.*1258C>G)
n.3244C>G
n.3538C>G
c.910C>G
n.3800C>G
c.3057C>G (p.Leu1019=)
c.1453C>G
c.-553+1796G>C (n.-553+1796G>C)
c.3213C>G (p.Leu1071=)
c.3117C>G (p.Leu1039=)
c.822C>G (p.Leu274=)
c.3240C>G (p.Leu1080=)
c.3144C>G (p.Leu1048=)
c.3084C>G (p.Leu1028=)
c.2988C>G (p.Leu996=)
6g.43045304G>TCA450260465CUL7,KLC4n.1032C>A
c.2961C>A (p.Leu987=)
n.3522C>A
c.*1258C>A (n.*1258C>A)
n.3244C>A
n.3538C>A
c.910C>A
n.3800C>A
c.3057C>A (p.Leu1019=)
c.1453C>A
c.-553+1796G>T (n.-553+1796G>T)
c.3213C>A (p.Leu1071=)
c.3117C>A (p.Leu1039=)
c.822C>A (p.Leu274=)
c.3240C>A (p.Leu1080=)
c.3144C>A (p.Leu1048=)
c.3084C>A (p.Leu1028=)
c.2988C>A (p.Leu996=)
6g.43045305A>CCA364208815CUL7,KLC4n.1031T>G
c.2960T>G (p.Leu987Arg)
n.3521T>G
c.*1257T>G (n.*1257T>G)
n.3243T>G
n.3537T>G
c.909T>G
n.3799T>G
c.3056T>G (p.Leu1019Arg)
c.1452T>G
c.-553+1797A>C (n.-553+1797A>C)
c.3212T>G (p.Leu1071Arg)
c.3116T>G (p.Leu1039Arg)
c.821T>G (p.Leu274Arg)
c.3239T>G (p.Leu1080Arg)
c.3143T>G (p.Leu1048Arg)
c.3083T>G (p.Leu1028Arg)
c.2987T>G (p.Leu996Arg)
6g.43045305A>GCA364208820CUL7,KLC4n.1031T>C
c.2960T>C (p.Leu987Pro)
n.3521T>C
c.*1257T>C (n.*1257T>C)
n.3243T>C
n.3537T>C
c.909T>C
n.3799T>C
c.3056T>C (p.Leu1019Pro)
c.1452T>C
c.-553+1797A>G (n.-553+1797A>G)
c.3212T>C (p.Leu1071Pro)
c.3116T>C (p.Leu1039Pro)
c.821T>C (p.Leu274Pro)
c.3239T>C (p.Leu1080Pro)
c.3143T>C (p.Leu1048Pro)
c.3083T>C (p.Leu1028Pro)
c.2987T>C (p.Leu996Pro)
6g.43045305A>TCA364208821CUL7,KLC4n.1031T>A
c.2960T>A (p.Leu987His)
n.3521T>A
c.*1257T>A (n.*1257T>A)
n.3243T>A
n.3537T>A
c.909T>A
n.3799T>A
c.3056T>A (p.Leu1019His)
c.1452T>A
c.-553+1797A>T (n.-553+1797A>T)
c.3212T>A (p.Leu1071His)
c.3116T>A (p.Leu1039His)
c.821T>A (p.Leu274His)
c.3239T>A (p.Leu1080His)
c.3143T>A (p.Leu1048His)
c.3083T>A (p.Leu1028His)
c.2987T>A (p.Leu996His)
6g.43045306G>ACA364208825CUL7,KLC4n.1030C>T
c.2959C>T (p.Leu987Phe)
n.3520C>T
c.*1256C>T (n.*1256C>T)
n.3242C>T
n.3536C>T
c.908C>T
n.3798C>T
c.3055C>T (p.Leu1019Phe)
c.1451C>T
c.-553+1798G>A (n.-553+1798G>A)
c.3211C>T (p.Leu1071Phe)
c.3115C>T (p.Leu1039Phe)
c.820C>T (p.Leu274Phe)
c.3238C>T (p.Leu1080Phe)
c.3142C>T (p.Leu1048Phe)
c.3082C>T (p.Leu1028Phe)
c.2986C>T (p.Leu996Phe)
6g.43045306G>CCA364208823CUL7,KLC4n.1030C>G
c.2959C>G (p.Leu987Val)
n.3520C>G
c.*1256C>G (n.*1256C>G)
n.3242C>G
n.3536C>G
c.908C>G
n.3798C>G
c.3055C>G (p.Leu1019Val)
c.1451C>G
c.-553+1798G>C (n.-553+1798G>C)
c.3211C>G (p.Leu1071Val)
c.3115C>G (p.Leu1039Val)
c.820C>G (p.Leu274Val)
c.3238C>G (p.Leu1080Val)
c.3142C>G (p.Leu1048Val)
c.3082C>G (p.Leu1028Val)
c.2986C>G (p.Leu996Val)
6g.43045306G>TCA364208822CUL7,KLC4n.1030C>A
c.2959C>A (p.Leu987Ile)
n.3520C>A
c.*1256C>A (n.*1256C>A)
n.3242C>A
n.3536C>A
c.908C>A
n.3798C>A
c.3055C>A (p.Leu1019Ile)
c.1451C>A
c.-553+1798G>T (n.-553+1798G>T)
c.3211C>A (p.Leu1071Ile)
c.3115C>A (p.Leu1039Ile)
c.820C>A (p.Leu274Ile)
c.3238C>A (p.Leu1080Ile)
c.3142C>A (p.Leu1048Ile)
c.3082C>A (p.Leu1028Ile)
c.2986C>A (p.Leu996Ile)
6g.43045307G>ACA450260471CUL7,KLC4n.1029C>T
c.2958C>T (p.Arg986=)
n.3519C>T
c.*1255C>T (n.*1255C>T)
n.3241C>T
n.3535C>T
c.907C>T
n.3797C>T
c.3054C>T (p.Arg1018=)
c.1450C>T
c.-553+1799G>A (n.-553+1799G>A)
c.3210C>T (p.Arg1070=)
c.3114C>T (p.Arg1038=)
c.819C>T (p.Arg273=)
c.3237C>T (p.Arg1079=)
c.3141C>T (p.Arg1047=)
c.3081C>T (p.Arg1027=)
c.2985C>T (p.Arg995=)
 gnomAD v4
6g.43045307G>CCA450260470CUL7,KLC4n.1029C>G
c.2958C>G (p.Arg986=)
n.3519C>G
c.*1255C>G (n.*1255C>G)
n.3241C>G
n.3535C>G
c.907C>G
n.3797C>G
c.3054C>G (p.Arg1018=)
c.1450C>G
c.-553+1799G>C (n.-553+1799G>C)
c.3210C>G (p.Arg1070=)
c.3114C>G (p.Arg1038=)
c.819C>G (p.Arg273=)
c.3237C>G (p.Arg1079=)
c.3141C>G (p.Arg1047=)
c.3081C>G (p.Arg1027=)
c.2985C>G (p.Arg995=)
6g.43045307G>TCA450260469CUL7,KLC4n.1029C>A
c.2958C>A (p.Arg986=)
n.3519C>A
c.*1255C>A (n.*1255C>A)
n.3241C>A
n.3535C>A
c.907C>A
n.3797C>A
c.3054C>A (p.Arg1018=)
c.1450C>A
c.-553+1799G>T (n.-553+1799G>T)
c.3210C>A (p.Arg1070=)
c.3114C>A (p.Arg1038=)
c.819C>A (p.Arg273=)
c.3237C>A (p.Arg1079=)
c.3141C>A (p.Arg1047=)
c.3081C>A (p.Arg1027=)
c.2985C>A (p.Arg995=)
6g.43045308C>ACA364208829CUL7,KLC4n.1028G>T
c.2957G>T (p.Arg986Leu)
n.3518G>T
c.*1254G>T (n.*1254G>T)
n.3240G>T
n.3534G>T
c.906G>T
n.3796G>T
c.3053G>T (p.Arg1018Leu)
c.1449G>T
c.-553+1800C>A (n.-553+1800C>A)
c.3209G>T (p.Arg1070Leu)
c.3113G>T (p.Arg1038Leu)
c.818G>T (p.Arg273Leu)
c.3236G>T (p.Arg1079Leu)
c.3140G>T (p.Arg1047Leu)
c.3080G>T (p.Arg1027Leu)
c.2984G>T (p.Arg995Leu)
6g.43045308C=CA1624355905CUL7,KLC4n.1028G=
c.2957G= (p.Arg986=)
n.3518G=
c.*1254G= (n.*1254G=)
n.3240G=
n.3534G=
c.906G=
n.3796G=
c.3053G= (p.Arg1018=)
c.1449G=
c.-553+1800C= (n.-553+1800C=)
c.3209G= (p.Arg1070=)
c.3113G= (p.Arg1038=)
c.818G= (p.Arg273=)
c.3236G= (p.Arg1079=)
c.3140G= (p.Arg1047=)
c.3080G= (p.Arg1027=)
c.2984G= (p.Arg995=)
6g.43045308C>GCA364208835CUL7,KLC4n.1028G>C
c.2957G>C (p.Arg986Pro)
n.3518G>C
c.*1254G>C (n.*1254G>C)
n.3240G>C
n.3534G>C
c.906G>C
n.3796G>C
c.3053G>C (p.Arg1018Pro)
c.1449G>C
c.-553+1800C>G (n.-553+1800C>G)
c.3209G>C (p.Arg1070Pro)
c.3113G>C (p.Arg1038Pro)
c.818G>C (p.Arg273Pro)
c.3236G>C (p.Arg1079Pro)
c.3140G>C (p.Arg1047Pro)
c.3080G>C (p.Arg1027Pro)
c.2984G>C (p.Arg995Pro)
6g.43045308C>TCA3813633CUL7,KLC4n.1028G>A
c.2957G>A (p.Arg986His)
n.3518G>A
c.*1254G>A (n.*1254G>A)
n.3240G>A
n.3534G>A
c.906G>A
n.3796G>A
c.3053G>A (p.Arg1018His)
c.1449G>A
c.-553+1800C>T (n.-553+1800C>T)
c.3209G>A (p.Arg1070His)
c.3113G>A (p.Arg1038His)
c.818G>A (p.Arg273His)
c.3236G>A (p.Arg1079His)
c.3140G>A (p.Arg1047His)
c.3080G>A (p.Arg1027His)
c.2984G>A (p.Arg995His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.43045309G>ACA3813634CUL7,KLC4n.1027C>T
c.2956C>T (p.Arg986Cys)
n.3517C>T
c.*1253C>T (n.*1253C>T)
n.3239C>T
n.3533C>T
c.905C>T
n.3795C>T
c.3052C>T (p.Arg1018Cys)
c.1448C>T
c.-553+1801G>A (n.-553+1801G>A)
c.3208C>T (p.Arg1070Cys)
c.3112C>T (p.Arg1038Cys)
c.817C>T (p.Arg273Cys)
c.3235C>T (p.Arg1079Cys)
c.3139C>T (p.Arg1047Cys)
c.3079C>T (p.Arg1027Cys)
c.2983C>T (p.Arg995Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045309G>CCA364208845CUL7,KLC4n.1027C>G
c.2956C>G (p.Arg986Gly)
n.3517C>G
c.*1253C>G (n.*1253C>G)
n.3239C>G
n.3533C>G
c.905C>G
n.3795C>G
c.3052C>G (p.Arg1018Gly)
c.1448C>G
c.-553+1801G>C (n.-553+1801G>C)
c.3208C>G (p.Arg1070Gly)
c.3112C>G (p.Arg1038Gly)
c.817C>G (p.Arg273Gly)
c.3235C>G (p.Arg1079Gly)
c.3139C>G (p.Arg1047Gly)
c.3079C>G (p.Arg1027Gly)
c.2983C>G (p.Arg995Gly)
 gnomAD v4
6g.43045309G=CA1624355906CUL7,KLC4n.1027C=
c.2956C= (p.Arg986=)
n.3517C=
c.*1253C= (n.*1253C=)
n.3239C=
n.3533C=
c.905C=
n.3795C=
c.3052C= (p.Arg1018=)
c.1448C=
c.-553+1801G= (n.-553+1801G=)
c.3208C= (p.Arg1070=)
c.3112C= (p.Arg1038=)
c.817C= (p.Arg273=)
c.3235C= (p.Arg1079=)
c.3139C= (p.Arg1047=)
c.3079C= (p.Arg1027=)
c.2983C= (p.Arg995=)
6g.43045309G>TCA364208849CUL7,KLC4n.1027C>A
c.2956C>A (p.Arg986Ser)
n.3517C>A
c.*1253C>A (n.*1253C>A)
n.3239C>A
n.3533C>A
c.905C>A
n.3795C>A
c.3052C>A (p.Arg1018Ser)
c.1448C>A
c.-553+1801G>T (n.-553+1801G>T)
c.3208C>A (p.Arg1070Ser)
c.3112C>A (p.Arg1038Ser)
c.817C>A (p.Arg273Ser)
c.3235C>A (p.Arg1079Ser)
c.3139C>A (p.Arg1047Ser)
c.3079C>A (p.Arg1027Ser)
c.2983C>A (p.Arg995Ser)
6g.43045312_43045315delCA2678807101CUL7,KLC4n.1024_1027del
c.2953_2956del (p.Thr985AlafsTer25)
n.3514_3517del
c.*1250_*1253del (n.*1250_*1253del)
n.3236_3239del
n.3530_3533del
c.902_905del
n.3792_3795del
c.3049_3052del (p.Thr1017AlafsTer25)
c.1445_1448del
c.-553+1804_-553+1807del (n.-553+1804_-553+1807del)
c.3205_3208del (p.Thr1069AlafsTer25)
c.3109_3112del (p.Thr1037AlafsTer25)
c.814_817del (p.Thr272AlafsTer25)
c.3232_3235del (p.Thr1078AlafsTer25)
c.3136_3139del (p.Thr1046AlafsTer25)
c.3076_3079del (p.Thr1026AlafsTer25)
c.2980_2983del (p.Thr994AlafsTer25)
 gnomAD v4
6g.43045310T>ACA450260473CUL7,KLC4n.1026A>T
c.2955A>T (p.Thr985=)
n.3516A>T
c.*1252A>T (n.*1252A>T)
n.3238A>T
n.3532A>T
c.904A>T
n.3794A>T
c.3051A>T (p.Thr1017=)
c.1447A>T
c.-553+1802T>A (n.-553+1802T>A)
c.3207A>T (p.Thr1069=)
c.3111A>T (p.Thr1037=)
c.816A>T (p.Thr272=)
c.3234A>T (p.Thr1078=)
c.3138A>T (p.Thr1046=)
c.3078A>T (p.Thr1026=)
c.2982A>T (p.Thr994=)
6g.43045310T>CCA3813635CUL7,KLC4n.1026A>G
c.2955A>G (p.Thr985=)
n.3516A>G
c.*1252A>G (n.*1252A>G)
n.3238A>G
n.3532A>G
c.904A>G
n.3794A>G
c.3051A>G (p.Thr1017=)
c.1447A>G
c.-553+1802T>C (n.-553+1802T>C)
c.3207A>G (p.Thr1069=)
c.3111A>G (p.Thr1037=)
c.816A>G (p.Thr272=)
c.3234A>G (p.Thr1078=)
c.3138A>G (p.Thr1046=)
c.3078A>G (p.Thr1026=)
c.2982A>G (p.Thr994=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.43045310T>GCA450260474CUL7,KLC4n.1026A>C
c.2955A>C (p.Thr985=)
n.3516A>C
c.*1252A>C (n.*1252A>C)
n.3238A>C
n.3532A>C
c.904A>C
n.3794A>C
c.3051A>C (p.Thr1017=)
c.1447A>C
c.-553+1802T>G (n.-553+1802T>G)
c.3207A>C (p.Thr1069=)
c.3111A>C (p.Thr1037=)
c.816A>C (p.Thr272=)
c.3234A>C (p.Thr1078=)
c.3138A>C (p.Thr1046=)
c.3078A>C (p.Thr1026=)
c.2982A>C (p.Thr994=)
6g.43045310T=CA1624355907CUL7,KLC4n.1026A=
c.2955A= (p.Thr985=)
n.3516A=
c.*1252A= (n.*1252A=)
n.3238A=
n.3532A=
c.904A=
n.3794A=
c.3051A= (p.Thr1017=)
c.1447A=
c.-553+1802T= (n.-553+1802T=)
c.3207A= (p.Thr1069=)
c.3111A= (p.Thr1037=)
c.816A= (p.Thr272=)
c.3234A= (p.Thr1078=)
c.3138A= (p.Thr1046=)
c.3078A= (p.Thr1026=)
c.2982A= (p.Thr994=)
6g.43045310_43045311delinsTGCA1624355908CUL7,KLC4n.1025_1026delinsCA
c.2954_2955delinsCA (p.Thr985=)
n.3515_3516delinsCA
c.*1251_*1252delinsCA (n.*1251_*1252delinsCA)
n.3237_3238delinsCA
n.3531_3532delinsCA
c.903_904delinsCA
n.3793_3794delinsCA
c.3050_3051delinsCA (p.Thr1017=)
c.1446_1447delinsCA
c.-553+1802_-553+1803delinsTG (n.-553+1802_-553+1803delinsTG)
c.3206_3207delinsCA (p.Thr1069=)
c.3110_3111delinsCA (p.Thr1037=)
c.815_816delinsCA (p.Thr272=)
c.3233_3234delinsCA (p.Thr1078=)
c.3137_3138delinsCA (p.Thr1046=)
c.3077_3078delinsCA (p.Thr1026=)
c.2981_2982delinsCA (p.Thr994=)
6g.43045311delCA1624355909CUL7,KLC4n.1025del
c.2954del (p.Thr985AsnfsTer26)
n.3515del
c.*1251del (n.*1251del)
n.3237del
n.3531del
c.903del
n.3793del
c.3050del (p.Thr1017AsnfsTer26)
c.1446del
c.-553+1803del (n.-553+1803del)
c.3206del (p.Thr1069AsnfsTer26)
c.3110del (p.Thr1037AsnfsTer26)
c.815del (p.Thr272AsnfsTer26)
c.3233del (p.Thr1078AsnfsTer26)
c.3137del (p.Thr1046AsnfsTer26)
c.3077del (p.Thr1026AsnfsTer26)
c.2981del (p.Thr994AsnfsTer26)
 dbSNP
6g.43045311G>ACA3813636CUL7,KLC4n.1025C>T
c.2954C>T (p.Thr985Ile)
n.3515C>T
c.*1251C>T (n.*1251C>T)
n.3237C>T
n.3531C>T
c.903C>T
n.3793C>T
c.3050C>T (p.Thr1017Ile)
c.1446C>T
c.-553+1803G>A (n.-553+1803G>A)
c.3206C>T (p.Thr1069Ile)
c.3110C>T (p.Thr1037Ile)
c.815C>T (p.Thr272Ile)
c.3233C>T (p.Thr1078Ile)
c.3137C>T (p.Thr1046Ile)
c.3077C>T (p.Thr1026Ile)
c.2981C>T (p.Thr994Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43045311G>CCA364208856CUL7,KLC4n.1025C>G
c.2954C>G (p.Thr985Arg)
n.3515C>G
c.*1251C>G (n.*1251C>G)
n.3237C>G
n.3531C>G
c.903C>G
n.3793C>G
c.3050C>G (p.Thr1017Arg)
c.1446C>G
c.-553+1803G>C (n.-553+1803G>C)
c.3206C>G (p.Thr1069Arg)
c.3110C>G (p.Thr1037Arg)
c.815C>G (p.Thr272Arg)
c.3233C>G (p.Thr1078Arg)
c.3137C>G (p.Thr1046Arg)
c.3077C>G (p.Thr1026Arg)
c.2981C>G (p.Thr994Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43045311G=CA1624355910CUL7,KLC4n.1025C=
c.2954C= (p.Thr985=)
n.3515C=
c.*1251C= (n.*1251C=)
n.3237C=
n.3531C=
c.903C=
n.3793C=
c.3050C= (p.Thr1017=)
c.1446C=
c.-553+1803G= (n.-553+1803G=)
c.3206C= (p.Thr1069=)
c.3110C= (p.Thr1037=)
c.815C= (p.Thr272=)
c.3233C= (p.Thr1078=)
c.3137C= (p.Thr1046=)
c.3077C= (p.Thr1026=)
c.2981C= (p.Thr994=)
6g.43045311G>TCA364208857CUL7,KLC4n.1025C>A
c.2954C>A (p.Thr985Lys)
n.3515C>A
c.*1251C>A (n.*1251C>A)
n.3237C>A
n.3531C>A
c.903C>A
n.3793C>A
c.3050C>A (p.Thr1017Lys)
c.1446C>A
c.-553+1803G>T (n.-553+1803G>T)
c.3206C>A (p.Thr1069Lys)
c.3110C>A (p.Thr1037Lys)
c.815C>A (p.Thr272Lys)
c.3233C>A (p.Thr1078Lys)
c.3137C>A (p.Thr1046Lys)
c.3077C>A (p.Thr1026Lys)
c.2981C>A (p.Thr994Lys)
6g.43045312T>ACA364208860CUL7,KLC4n.1024A>T
c.2953A>T (p.Thr985Ser)
n.3514A>T
c.*1250A>T (n.*1250A>T)
n.3236A>T
n.3530A>T
c.902A>T
n.3792A>T
c.3049A>T (p.Thr1017Ser)
c.1445A>T
c.-553+1804T>A (n.-553+1804T>A)
c.3205A>T (p.Thr1069Ser)
c.3109A>T (p.Thr1037Ser)
c.814A>T (p.Thr272Ser)
c.3232A>T (p.Thr1078Ser)
c.3136A>T (p.Thr1046Ser)
c.3076A>T (p.Thr1026Ser)
c.2980A>T (p.Thr994Ser)
6g.43045312T>CCA364208863CUL7,KLC4n.1024A>G
c.2953A>G (p.Thr985Ala)
n.3514A>G
c.*1250A>G (n.*1250A>G)
n.3236A>G
n.3530A>G
c.902A>G
n.3792A>G
c.3049A>G (p.Thr1017Ala)
c.1445A>G
c.-553+1804T>C (n.-553+1804T>C)
c.3205A>G (p.Thr1069Ala)
c.3109A>G (p.Thr1037Ala)
c.814A>G (p.Thr272Ala)
c.3232A>G (p.Thr1078Ala)
c.3136A>G (p.Thr1046Ala)
c.3076A>G (p.Thr1026Ala)
c.2980A>G (p.Thr994Ala)
6g.43045312T>GCA364208866CUL7,KLC4n.1024A>C
c.2953A>C (p.Thr985Pro)
n.3514A>C
c.*1250A>C (n.*1250A>C)
n.3236A>C
n.3530A>C
c.902A>C
n.3792A>C
c.3049A>C (p.Thr1017Pro)
c.1445A>C
c.-553+1804T>G (n.-553+1804T>G)
c.3205A>C (p.Thr1069Pro)
c.3109A>C (p.Thr1037Pro)
c.814A>C (p.Thr272Pro)
c.3232A>C (p.Thr1078Pro)
c.3136A>C (p.Thr1046Pro)
c.3076A>C (p.Thr1026Pro)
c.2980A>C (p.Thr994Pro)
6g.43045312_43045313insATGCTTCA2524333454CUL7,KLC4n.1024_1025insAGCATA
c.2953_2954insAGCATA (p.His984_Thr985insLysHis)
n.3514_3515insAGCATA
c.*1250_*1251insAGCATA (n.*1250_*1251insAGCATA)
n.3236_3237insAGCATA
n.3530_3531insAGCATA
c.902_903insAGCATA
n.3792_3793insAGCATA
c.3049_3050insAGCATA (p.His1016_Thr1017insLysHis)
c.1445_1446insAGCATA
c.-553+1804_-553+1805insATGCTT (n.-553+1804_-553+1805insATGCTT)
c.3205_3206insAGCATA (p.His1068_Thr1069insLysHis)
c.3109_3110insAGCATA (p.His1036_Thr1037insLysHis)
c.814_815insAGCATA (p.His271_Thr272insLysHis)
c.3232_3233insAGCATA (p.His1077_Thr1078insLysHis)
c.3136_3137insAGCATA (p.His1045_Thr1046insLysHis)
c.3076_3077insAGCATA (p.His1025_Thr1026insLysHis)
c.2980_2981insAGCATA (p.His993_Thr994insLysHis)
6g.43045313G>ACA450260476CUL7,KLC4n.1023C>T
c.2952C>T (p.His984=)
n.3513C>T
c.*1249C>T (n.*1249C>T)
n.3235C>T
n.3529C>T
c.901C>T
n.3791C>T
c.3048C>T (p.His1016=)
c.1444C>T
c.-553+1805G>A (n.-553+1805G>A)
c.3204C>T (p.His1068=)
c.3108C>T (p.His1036=)
c.813C>T (p.His271=)
c.3231C>T (p.His1077=)
c.3135C>T (p.His1045=)
c.3075C>T (p.His1025=)
c.2979C>T (p.His993=)
6g.43045313G>CCA364208868CUL7,KLC4n.1023C>G
c.2952C>G (p.His984Gln)
n.3513C>G
c.*1249C>G (n.*1249C>G)
n.3235C>G
n.3529C>G
c.901C>G
n.3791C>G
c.3048C>G (p.His1016Gln)
c.1444C>G
c.-553+1805G>C (n.-553+1805G>C)
c.3204C>G (p.His1068Gln)
c.3108C>G (p.His1036Gln)
c.813C>G (p.His271Gln)
c.3231C>G (p.His1077Gln)
c.3135C>G (p.His1045Gln)
c.3075C>G (p.His1025Gln)
c.2979C>G (p.His993Gln)
6g.43045313G>TCA364208869CUL7,KLC4n.1023C>A
c.2952C>A (p.His984Gln)
n.3513C>A
c.*1249C>A (n.*1249C>A)
n.3235C>A
n.3529C>A
c.901C>A
n.3791C>A
c.3048C>A (p.His1016Gln)
c.1444C>A
c.-553+1805G>T (n.-553+1805G>T)
c.3204C>A (p.His1068Gln)
c.3108C>A (p.His1036Gln)
c.813C>A (p.His271Gln)
c.3231C>A (p.His1077Gln)
c.3135C>A (p.His1045Gln)
c.3075C>A (p.His1025Gln)
c.2979C>A (p.His993Gln)
6g.43045314T>ACA364208872CUL7,KLC4n.1022A>T
c.2951A>T (p.His984Leu)
n.3512A>T
c.*1248A>T (n.*1248A>T)
n.3234A>T
n.3528A>T
c.900A>T
n.3790A>T
c.3047A>T (p.His1016Leu)
c.1443A>T
c.-553+1806T>A (n.-553+1806T>A)
c.3203A>T (p.His1068Leu)
c.3107A>T (p.His1036Leu)
c.812A>T (p.His271Leu)
c.3230A>T (p.His1077Leu)
c.3134A>T (p.His1045Leu)
c.3074A>T (p.His1025Leu)
c.2978A>T (p.His993Leu)
6g.43045314T>CCA364208870CUL7,KLC4n.1022A>G
c.2951A>G (p.His984Arg)
n.3512A>G
c.*1248A>G (n.*1248A>G)
n.3234A>G
n.3528A>G
c.900A>G
n.3790A>G
c.3047A>G (p.His1016Arg)
c.1443A>G
c.-553+1806T>C (n.-553+1806T>C)
c.3203A>G (p.His1068Arg)
c.3107A>G (p.His1036Arg)
c.812A>G (p.His271Arg)
c.3230A>G (p.His1077Arg)
c.3134A>G (p.His1045Arg)
c.3074A>G (p.His1025Arg)
c.2978A>G (p.His993Arg)
6g.43045314T>GCA364208871CUL7,KLC4n.1022A>C
c.2951A>C (p.His984Pro)
n.3512A>C
c.*1248A>C (n.*1248A>C)
n.3234A>C
n.3528A>C
c.900A>C
n.3790A>C
c.3047A>C (p.His1016Pro)
c.1443A>C
c.-553+1806T>G (n.-553+1806T>G)
c.3203A>C (p.His1068Pro)
c.3107A>C (p.His1036Pro)
c.812A>C (p.His271Pro)
c.3230A>C (p.His1077Pro)
c.3134A>C (p.His1045Pro)
c.3074A>C (p.His1025Pro)
c.2978A>C (p.His993Pro)
6g.43045315G>ACA364208875CUL7,KLC4n.1021C>T
c.2950C>T (p.His984Tyr)
n.3511C>T
c.*1247C>T (n.*1247C>T)
n.3233C>T
n.3527C>T
c.899C>T
n.3789C>T
c.3046C>T (p.His1016Tyr)
c.1442C>T
c.-553+1807G>A (n.-553+1807G>A)
c.3202C>T (p.His1068Tyr)
c.3106C>T (p.His1036Tyr)
c.811C>T (p.His271Tyr)
c.3229C>T (p.His1077Tyr)
c.3133C>T (p.His1045Tyr)
c.3073C>T (p.His1025Tyr)
c.2977C>T (p.His993Tyr)
6g.43045315G>CCA364208878CUL7,KLC4n.1021C>G
c.2950C>G (p.His984Asp)
n.3511C>G
c.*1247C>G (n.*1247C>G)
n.3233C>G
n.3527C>G
c.899C>G
n.3789C>G
c.3046C>G (p.His1016Asp)
c.1442C>G
c.-553+1807G>C (n.-553+1807G>C)
c.3202C>G (p.His1068Asp)
c.3106C>G (p.His1036Asp)
c.811C>G (p.His271Asp)
c.3229C>G (p.His1077Asp)
c.3133C>G (p.His1045Asp)
c.3073C>G (p.His1025Asp)
c.2977C>G (p.His993Asp)
6g.43045315G>TCA364208880CUL7,KLC4n.1021C>A
c.2950C>A (p.His984Asn)
n.3511C>A
c.*1247C>A (n.*1247C>A)
n.3233C>A
n.3527C>A
c.899C>A
n.3789C>A
c.3046C>A (p.His1016Asn)
c.1442C>A
c.-553+1807G>T (n.-553+1807G>T)
c.3202C>A (p.His1068Asn)
c.3106C>A (p.His1036Asn)
c.811C>A (p.His271Asn)
c.3229C>A (p.His1077Asn)
c.3133C>A (p.His1045Asn)
c.3073C>A (p.His1025Asn)
c.2977C>A (p.His993Asn)
6g.43045315_43045316insTCTGTGGGAAAGGTCA2509230153CUL7,KLC4n.1020_1021insACCTTTCCCACAGA
c.2949_2950insACCTTTCCCACAGA (p.His984ThrfsTer32)
n.3510_3511insACCTTTCCCACAGA
c.*1246_*1247insACCTTTCCCACAGA (n.*1246_*1247insACCTTTCCCACAGA)
n.3232_3233insACCTTTCCCACAGA
n.3526_3527insACCTTTCCCACAGA
c.898_899insACCTTTCCCACAGA
n.3788_3789insACCTTTCCCACAGA
c.3045_3046insACCTTTCCCACAGA (p.His1016ThrfsTer32)
c.1441_1442insACCTTTCCCACAGA
c.-553+1807_-553+1808insTCTGTGGGAAAGGT (n.-553+1807_-553+1808insTCTGTGGGAAAGGT)
c.3201_3202insACCTTTCCCACAGA (p.His1068ThrfsTer32)
c.3105_3106insACCTTTCCCACAGA (p.His1036ThrfsTer32)
c.810_811insACCTTTCCCACAGA (p.His271ThrfsTer32)
c.3228_3229insACCTTTCCCACAGA (p.His1077ThrfsTer32)
c.3132_3133insACCTTTCCCACAGA (p.His1045ThrfsTer32)
c.3072_3073insACCTTTCCCACAGA (p.His1025ThrfsTer32)
c.2976_2977insACCTTTCCCACAGA (p.His993ThrfsTer32)
6g.43045316A>CCA450260480CUL7,KLC4n.1020T>G
c.2949T>G (p.Arg983=)
n.3510T>G
c.*1246T>G (n.*1246T>G)
n.3232T>G
n.3526T>G
c.898T>G
n.3788T>G
c.3045T>G (p.Arg1015=)
c.1441T>G
c.-553+1808A>C (n.-553+1808A>C)
c.3201T>G (p.Arg1067=)
c.3105T>G (p.Arg1035=)
c.810T>G (p.Arg270=)
c.3228T>G (p.Arg1076=)
c.3132T>G (p.Arg1044=)
c.3072T>G (p.Arg1024=)
c.2976T>G (p.Arg992=)
6g.43045316A>GCA450260481CUL7,KLC4n.1020T>C
c.2949T>C (p.Arg983=)
n.3510T>C
c.*1246T>C (n.*1246T>C)
n.3232T>C
n.3526T>C
c.898T>C
n.3788T>C
c.3045T>C (p.Arg1015=)
c.1441T>C
c.-553+1808A>G (n.-553+1808A>G)
c.3201T>C (p.Arg1067=)
c.3105T>C (p.Arg1035=)
c.810T>C (p.Arg270=)
c.3228T>C (p.Arg1076=)
c.3132T>C (p.Arg1044=)
c.3072T>C (p.Arg1024=)
c.2976T>C (p.Arg992=)
6g.43045316A>TCA450260482CUL7,KLC4n.1020T>A
c.2949T>A (p.Arg983=)
n.3510T>A
c.*1246T>A (n.*1246T>A)
n.3232T>A
n.3526T>A
c.898T>A
n.3788T>A
c.3045T>A (p.Arg1015=)
c.1441T>A
c.-553+1808A>T (n.-553+1808A>T)
c.3201T>A (p.Arg1067=)
c.3105T>A (p.Arg1035=)
c.810T>A (p.Arg270=)
c.3228T>A (p.Arg1076=)
c.3132T>A (p.Arg1044=)
c.3072T>A (p.Arg1024=)
c.2976T>A (p.Arg992=)
6g.43045317C>ACA364208888CUL7,KLC4n.1019G>T
c.2948G>T (p.Arg983Leu)
n.3509G>T
c.*1245G>T (n.*1245G>T)
n.3231G>T
n.3525G>T
c.897G>T
n.3787G>T
c.3044G>T (p.Arg1015Leu)
c.1440G>T
c.-553+1809C>A (n.-553+1809C>A)
c.3200G>T (p.Arg1067Leu)
c.3104G>T (p.Arg1035Leu)
c.809G>T (p.Arg270Leu)
c.3227G>T (p.Arg1076Leu)
c.3131G>T (p.Arg1044Leu)
c.3071G>T (p.Arg1024Leu)
c.2975G>T (p.Arg992Leu)
6g.43045317C=CA1624355911CUL7,KLC4n.1019G=
c.2948G= (p.Arg983=)
n.3509G=
c.*1245G= (n.*1245G=)
n.3231G=
n.3525G=
c.897G=
n.3787G=
c.3044G= (p.Arg1015=)
c.1440G=
c.-553+1809C= (n.-553+1809C=)
c.3200G= (p.Arg1067=)
c.3104G= (p.Arg1035=)
c.809G= (p.Arg270=)
c.3227G= (p.Arg1076=)
c.3131G= (p.Arg1044=)
c.3071G= (p.Arg1024=)
c.2975G= (p.Arg992=)
6g.43045317C>GCA364208891CUL7,KLC4n.1019G>C
c.2948G>C (p.Arg983Pro)
n.3509G>C
c.*1245G>C (n.*1245G>C)
n.3231G>C
n.3525G>C
c.897G>C
n.3787G>C
c.3044G>C (p.Arg1015Pro)
c.1440G>C
c.-553+1809C>G (n.-553+1809C>G)
c.3200G>C (p.Arg1067Pro)
c.3104G>C (p.Arg1035Pro)
c.809G>C (p.Arg270Pro)
c.3227G>C (p.Arg1076Pro)
c.3131G>C (p.Arg1044Pro)
c.3071G>C (p.Arg1024Pro)
c.2975G>C (p.Arg992Pro)
6g.43045317C>TCA3813637CUL7,KLC4n.1019G>A
c.2948G>A (p.Arg983His)
n.3509G>A
c.*1245G>A (n.*1245G>A)
n.3231G>A
n.3525G>A
c.897G>A
n.3787G>A
c.3044G>A (p.Arg1015His)
c.1440G>A
c.-553+1809C>T (n.-553+1809C>T)
c.3200G>A (p.Arg1067His)
c.3104G>A (p.Arg1035His)
c.809G>A (p.Arg270His)
c.3227G>A (p.Arg1076His)
c.3131G>A (p.Arg1044His)
c.3071G>A (p.Arg1024His)
c.2975G>A (p.Arg992His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045318G>ACA3813638CUL7,KLC4n.1018C>T
c.2947C>T (p.Arg983Cys)
n.3508C>T
c.*1244C>T (n.*1244C>T)
n.3230C>T
n.3524C>T
c.896C>T
n.3786C>T
c.3043C>T (p.Arg1015Cys)
c.1439C>T
c.-553+1810G>A (n.-553+1810G>A)
c.3199C>T (p.Arg1067Cys)
c.3103C>T (p.Arg1035Cys)
c.808C>T (p.Arg270Cys)
c.3226C>T (p.Arg1076Cys)
c.3130C>T (p.Arg1044Cys)
c.3070C>T (p.Arg1024Cys)
c.2974C>T (p.Arg992Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43045318G>CCA364208897CUL7,KLC4n.1018C>G
c.2947C>G (p.Arg983Gly)
n.3508C>G
c.*1244C>G (n.*1244C>G)
n.3230C>G
n.3524C>G
c.896C>G
n.3786C>G
c.3043C>G (p.Arg1015Gly)
c.1439C>G
c.-553+1810G>C (n.-553+1810G>C)
c.3199C>G (p.Arg1067Gly)
c.3103C>G (p.Arg1035Gly)
c.808C>G (p.Arg270Gly)
c.3226C>G (p.Arg1076Gly)
c.3130C>G (p.Arg1044Gly)
c.3070C>G (p.Arg1024Gly)
c.2974C>G (p.Arg992Gly)
 gnomAD v4
6g.43045318G=CA1624355912CUL7,KLC4n.1018C=
c.2947C= (p.Arg983=)
n.3508C=
c.*1244C= (n.*1244C=)
n.3230C=
n.3524C=
c.896C=
n.3786C=
c.3043C= (p.Arg1015=)
c.1439C=
c.-553+1810G= (n.-553+1810G=)
c.3199C= (p.Arg1067=)
c.3103C= (p.Arg1035=)
c.808C= (p.Arg270=)
c.3226C= (p.Arg1076=)
c.3130C= (p.Arg1044=)
c.3070C= (p.Arg1024=)
c.2974C= (p.Arg992=)
6g.43045318G>TCA364208900CUL7,KLC4n.1018C>A
c.2947C>A (p.Arg983Ser)
n.3508C>A
c.*1244C>A (n.*1244C>A)
n.3230C>A
n.3524C>A
c.896C>A
n.3786C>A
c.3043C>A (p.Arg1015Ser)
c.1439C>A
c.-553+1810G>T (n.-553+1810G>T)
c.3199C>A (p.Arg1067Ser)
c.3103C>A (p.Arg1035Ser)
c.808C>A (p.Arg270Ser)
c.3226C>A (p.Arg1076Ser)
c.3130C>A (p.Arg1044Ser)
c.3070C>A (p.Arg1024Ser)
c.2974C>A (p.Arg992Ser)
6g.43045319A=CA1624355913CUL7,KLC4n.1017T=
c.2946T= (p.Cys982=)
n.3507T=
c.*1243T= (n.*1243T=)
n.3229T=
n.3523T=
c.895T=
n.3785T=
c.3042T= (p.Cys1014=)
c.1438T=
c.-553+1811A= (n.-553+1811A=)
c.3198T= (p.Cys1066=)
c.3102T= (p.Cys1034=)
c.807T= (p.Cys269=)
c.3225T= (p.Cys1075=)
c.3129T= (p.Cys1043=)
c.3069T= (p.Cys1023=)
c.2973T= (p.Cys991=)
6g.43045319A>CCA364208902CUL7,KLC4n.1017T>G
c.2946T>G (p.Cys982Trp)
n.3507T>G
c.*1243T>G (n.*1243T>G)
n.3229T>G
n.3523T>G
c.895T>G
n.3785T>G
c.3042T>G (p.Cys1014Trp)
c.1438T>G
c.-553+1811A>C (n.-553+1811A>C)
c.3198T>G (p.Cys1066Trp)
c.3102T>G (p.Cys1034Trp)
c.807T>G (p.Cys269Trp)
c.3225T>G (p.Cys1075Trp)
c.3129T>G (p.Cys1043Trp)
c.3069T>G (p.Cys1023Trp)
c.2973T>G (p.Cys991Trp)
6g.43045319A>GCA138245800CUL7,KLC4n.1017T>C
c.2946T>C (p.Cys982=)
n.3507T>C
c.*1243T>C (n.*1243T>C)
n.3229T>C
n.3523T>C
c.895T>C
n.3785T>C
c.3042T>C (p.Cys1014=)
c.1438T>C
c.-553+1811A>G (n.-553+1811A>G)
c.3198T>C (p.Cys1066=)
c.3102T>C (p.Cys1034=)
c.807T>C (p.Cys269=)
c.3225T>C (p.Cys1075=)
c.3129T>C (p.Cys1043=)
c.3069T>C (p.Cys1023=)
c.2973T>C (p.Cys991=)
 dbSNP gnomAD v3 gnomAD v4
6g.43045319A>TCA364208904CUL7,KLC4n.1017T>A
c.2946T>A (p.Cys982Ter)
n.3507T>A
c.*1243T>A (n.*1243T>A)
n.3229T>A
n.3523T>A
c.895T>A
n.3785T>A
c.3042T>A (p.Cys1014Ter)
c.1438T>A
c.-553+1811A>T (n.-553+1811A>T)
c.3198T>A (p.Cys1066Ter)
c.3102T>A (p.Cys1034Ter)
c.807T>A (p.Cys269Ter)
c.3225T>A (p.Cys1075Ter)
c.3129T>A (p.Cys1043Ter)
c.3069T>A (p.Cys1023Ter)
c.2973T>A (p.Cys991Ter)
6g.43045320C>ACA364208926CUL7,KLC4n.1016G>T
c.2945G>T (p.Cys982Phe)
n.3506G>T
c.*1242G>T (n.*1242G>T)
n.3228G>T
n.3522G>T
c.894G>T
n.3784G>T
c.3041G>T (p.Cys1014Phe)
c.1437G>T
c.-553+1812C>A (n.-553+1812C>A)
c.3197G>T (p.Cys1066Phe)
c.3101G>T (p.Cys1034Phe)
c.806G>T (p.Cys269Phe)
c.3224G>T (p.Cys1075Phe)
c.3128G>T (p.Cys1043Phe)
c.3068G>T (p.Cys1023Phe)
c.2972G>T (p.Cys991Phe)
6g.43045320C=CA1624355915CUL7,KLC4n.1016G=
c.2945G= (p.Cys982=)
n.3506G=
c.*1242G= (n.*1242G=)
n.3228G=
n.3522G=
c.894G=
n.3784G=
c.3041G= (p.Cys1014=)
c.1437G=
c.-553+1812C= (n.-553+1812C=)
c.3197G= (p.Cys1066=)
c.3101G= (p.Cys1034=)
c.806G= (p.Cys269=)
c.3224G= (p.Cys1075=)
c.3128G= (p.Cys1043=)
c.3068G= (p.Cys1023=)
c.2972G= (p.Cys991=)
6g.43045320C>GCA364208922CUL7,KLC4n.1016G>C
c.2945G>C (p.Cys982Ser)
n.3506G>C
c.*1242G>C (n.*1242G>C)
n.3228G>C
n.3522G>C
c.894G>C
n.3784G>C
c.3041G>C (p.Cys1014Ser)
c.1437G>C
c.-553+1812C>G (n.-553+1812C>G)
c.3197G>C (p.Cys1066Ser)
c.3101G>C (p.Cys1034Ser)
c.806G>C (p.Cys269Ser)
c.3224G>C (p.Cys1075Ser)
c.3128G>C (p.Cys1043Ser)
c.3068G>C (p.Cys1023Ser)
c.2972G>C (p.Cys991Ser)
6g.43045320C>TCA364208919CUL7,KLC4n.1016G>A
c.2945G>A (p.Cys982Tyr)
n.3506G>A
c.*1242G>A (n.*1242G>A)
n.3228G>A
n.3522G>A
c.894G>A
n.3784G>A
c.3041G>A (p.Cys1014Tyr)
c.1437G>A
c.-553+1812C>T (n.-553+1812C>T)
c.3197G>A (p.Cys1066Tyr)
c.3101G>A (p.Cys1034Tyr)
c.806G>A (p.Cys269Tyr)
c.3224G>A (p.Cys1075Tyr)
c.3128G>A (p.Cys1043Tyr)
c.3068G>A (p.Cys1023Tyr)
c.2972G>A (p.Cys991Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.43045320_43045322delinsCAGCA1624355914CUL7,KLC4n.1014_1016delinsCTG
c.2943_2945delinsCTG (p.Leu981=)
n.3504_3506delinsCTG
c.*1240_*1242delinsCTG (n.*1240_*1242delinsCTG)
n.3226_3228delinsCTG
n.3520_3522delinsCTG
c.892_894delinsCTG
n.3782_3784delinsCTG
c.3039_3041delinsCTG (p.Leu1013=)
c.1435_1437delinsCTG
c.-553+1812_-553+1814delinsCAG (n.-553+1812_-553+1814delinsCAG)
c.3195_3197delinsCTG (p.Leu1065=)
c.3099_3101delinsCTG (p.Leu1033=)
c.804_806delinsCTG (p.Leu268=)
c.3222_3224delinsCTG (p.Leu1074=)
c.3126_3128delinsCTG (p.Leu1042=)
c.3066_3068delinsCTG (p.Leu1022=)
c.2970_2972delinsCTG (p.Leu990=)
6g.43045321A>CCA364208967CUL7,KLC4n.1015T>G
c.2944T>G (p.Cys982Gly)
n.3505T>G
c.*1241T>G (n.*1241T>G)
n.3227T>G
n.3521T>G
c.893T>G
n.3783T>G
c.3040T>G (p.Cys1014Gly)
c.1436T>G
c.-553+1813A>C (n.-553+1813A>C)
c.3196T>G (p.Cys1066Gly)
c.3100T>G (p.Cys1034Gly)
c.805T>G (p.Cys269Gly)
c.3223T>G (p.Cys1075Gly)
c.3127T>G (p.Cys1043Gly)
c.3067T>G (p.Cys1023Gly)
c.2971T>G (p.Cys991Gly)
 gnomAD v4
6g.43045321A>GCA364208973CUL7,KLC4n.1015T>C
c.2944T>C (p.Cys982Arg)
n.3505T>C
c.*1241T>C (n.*1241T>C)
n.3227T>C
n.3521T>C
c.893T>C
n.3783T>C
c.3040T>C (p.Cys1014Arg)
c.1436T>C
c.-553+1813A>G (n.-553+1813A>G)
c.3196T>C (p.Cys1066Arg)
c.3100T>C (p.Cys1034Arg)
c.805T>C (p.Cys269Arg)
c.3223T>C (p.Cys1075Arg)
c.3127T>C (p.Cys1043Arg)
c.3067T>C (p.Cys1023Arg)
c.2971T>C (p.Cys991Arg)
6g.43045321A>TCA364208975CUL7,KLC4n.1015T>A
c.2944T>A (p.Cys982Ser)
n.3505T>A
c.*1241T>A (n.*1241T>A)
n.3227T>A
n.3521T>A
c.893T>A
n.3783T>A
c.3040T>A (p.Cys1014Ser)
c.1436T>A
c.-553+1813A>T (n.-553+1813A>T)
c.3196T>A (p.Cys1066Ser)
c.3100T>A (p.Cys1034Ser)
c.805T>A (p.Cys269Ser)
c.3223T>A (p.Cys1075Ser)
c.3127T>A (p.Cys1043Ser)
c.3067T>A (p.Cys1023Ser)
c.2971T>A (p.Cys991Ser)
6g.43045323_43045324delCA16621906CUL7,KLC4n.1014_1015del
c.2943_2944del (p.Cys982SerfsTer?)
n.3504_3505del
c.*1240_*1241del (n.*1240_*1241del)
n.3226_3227del
n.3520_3521del
c.892_893del
n.3782_3783del
c.3039_3040del (p.Cys1014SerfsTer?)
c.1435_1436del
c.-553+1815_-553+1816del (n.-553+1815_-553+1816del)
c.3195_3196del (p.Cys1066SerfsTer?)
c.3099_3100del (p.Cys1034SerfsTer?)
c.804_805del (p.Cys269SerfsTer?)
c.3222_3223del (p.Cys1075SerfsTer?)
c.3126_3127del (p.Cys1043SerfsTer?)
c.3066_3067del (p.Cys1023SerfsTer?)
c.2970_2971del (p.Cys991SerfsTer?)
 ClinVar dbSNP
6g.43045322G>ACA450260490CUL7,KLC4n.1014C>T
c.2943C>T (p.Leu981=)
n.3504C>T
c.*1240C>T (n.*1240C>T)
n.3226C>T
n.3520C>T
c.892C>T
n.3782C>T
c.3039C>T (p.Leu1013=)
c.1435C>T
c.-553+1814G>A (n.-553+1814G>A)
c.3195C>T (p.Leu1065=)
c.3099C>T (p.Leu1033=)
c.804C>T (p.Leu268=)
c.3222C>T (p.Leu1074=)
c.3126C>T (p.Leu1042=)
c.3066C>T (p.Leu1022=)
c.2970C>T (p.Leu990=)
 gnomAD v4
6g.43045322G>CCA450260492CUL7,KLC4n.1014C>G
c.2943C>G (p.Leu981=)
n.3504C>G
c.*1240C>G (n.*1240C>G)
n.3226C>G
n.3520C>G
c.892C>G
n.3782C>G
c.3039C>G (p.Leu1013=)
c.1435C>G
c.-553+1814G>C (n.-553+1814G>C)
c.3195C>G (p.Leu1065=)
c.3099C>G (p.Leu1033=)
c.804C>G (p.Leu268=)
c.3222C>G (p.Leu1074=)
c.3126C>G (p.Leu1042=)
c.3066C>G (p.Leu1022=)
c.2970C>G (p.Leu990=)
6g.43045322G>TCA450260493CUL7,KLC4n.1014C>A
c.2943C>A (p.Leu981=)
n.3504C>A
c.*1240C>A (n.*1240C>A)
n.3226C>A
n.3520C>A
c.892C>A
n.3782C>A
c.3039C>A (p.Leu1013=)
c.1435C>A
c.-553+1814G>T (n.-553+1814G>T)
c.3195C>A (p.Leu1065=)
c.3099C>A (p.Leu1033=)
c.804C>A (p.Leu268=)
c.3222C>A (p.Leu1074=)
c.3126C>A (p.Leu1042=)
c.3066C>A (p.Leu1022=)
c.2970C>A (p.Leu990=)
6g.43045323A>CCA364208978CUL7,KLC4n.1013T>G
c.2942T>G (p.Leu981Arg)
n.3503T>G
c.*1239T>G (n.*1239T>G)
n.3225T>G
n.3519T>G
c.891T>G
n.3781T>G
c.3038T>G (p.Leu1013Arg)
c.1434T>G
c.-553+1815A>C (n.-553+1815A>C)
c.3194T>G (p.Leu1065Arg)
c.3098T>G (p.Leu1033Arg)
c.803T>G (p.Leu268Arg)
c.3221T>G (p.Leu1074Arg)
c.3125T>G (p.Leu1042Arg)
c.3065T>G (p.Leu1022Arg)
c.2969T>G (p.Leu990Arg)
6g.43045323A>GCA364208982CUL7,KLC4n.1013T>C
c.2942T>C (p.Leu981Pro)
n.3503T>C
c.*1239T>C (n.*1239T>C)
n.3225T>C
n.3519T>C
c.891T>C
n.3781T>C
c.3038T>C (p.Leu1013Pro)
c.1434T>C
c.-553+1815A>G (n.-553+1815A>G)
c.3194T>C (p.Leu1065Pro)
c.3098T>C (p.Leu1033Pro)
c.803T>C (p.Leu268Pro)
c.3221T>C (p.Leu1074Pro)
c.3125T>C (p.Leu1042Pro)
c.3065T>C (p.Leu1022Pro)
c.2969T>C (p.Leu990Pro)
6g.43045323A>TCA364209008CUL7,KLC4n.1013T>A
c.2942T>A (p.Leu981His)
n.3503T>A
c.*1239T>A (n.*1239T>A)
n.3225T>A
n.3519T>A
c.891T>A
n.3781T>A
c.3038T>A (p.Leu1013His)
c.1434T>A
c.-553+1815A>T (n.-553+1815A>T)
c.3194T>A (p.Leu1065His)
c.3098T>A (p.Leu1033His)
c.803T>A (p.Leu268His)
c.3221T>A (p.Leu1074His)
c.3125T>A (p.Leu1042His)
c.3065T>A (p.Leu1022His)
c.2969T>A (p.Leu990His)
6g.43045324G>ACA364209018CUL7,KLC4n.1012C>T
c.2941C>T (p.Leu981Phe)
n.3502C>T
c.*1238C>T (n.*1238C>T)
n.3224C>T
n.3518C>T
c.890C>T
n.3780C>T
c.3037C>T (p.Leu1013Phe)
c.1433C>T
c.-553+1816G>A (n.-553+1816G>A)
c.3193C>T (p.Leu1065Phe)
c.3097C>T (p.Leu1033Phe)
c.802C>T (p.Leu268Phe)
c.3220C>T (p.Leu1074Phe)
c.3124C>T (p.Leu1042Phe)
c.3064C>T (p.Leu1022Phe)
c.2968C>T (p.Leu990Phe)
6g.43045324G>CCA364209011CUL7,KLC4n.1012C>G
c.2941C>G (p.Leu981Val)
n.3502C>G
c.*1238C>G (n.*1238C>G)
n.3224C>G
n.3518C>G
c.890C>G
n.3780C>G
c.3037C>G (p.Leu1013Val)
c.1433C>G
c.-553+1816G>C (n.-553+1816G>C)
c.3193C>G (p.Leu1065Val)
c.3097C>G (p.Leu1033Val)
c.802C>G (p.Leu268Val)
c.3220C>G (p.Leu1074Val)
c.3124C>G (p.Leu1042Val)
c.3064C>G (p.Leu1022Val)
c.2968C>G (p.Leu990Val)
6g.43045324G>TCA364209013CUL7,KLC4n.1012C>A
c.2941C>A (p.Leu981Ile)
n.3502C>A
c.*1238C>A (n.*1238C>A)
n.3224C>A
n.3518C>A
c.890C>A
n.3780C>A
c.3037C>A (p.Leu1013Ile)
c.1433C>A
c.-553+1816G>T (n.-553+1816G>T)
c.3193C>A (p.Leu1065Ile)
c.3097C>A (p.Leu1033Ile)
c.802C>A (p.Leu268Ile)
c.3220C>A (p.Leu1074Ile)
c.3124C>A (p.Leu1042Ile)
c.3064C>A (p.Leu1022Ile)
c.2968C>A (p.Leu990Ile)
6g.43045325C>ACA364209021CUL7,KLC4n.1011G>T
c.2940G>T (p.Gln980His)
n.3501G>T
c.*1237G>T (n.*1237G>T)
n.3223G>T
n.3517G>T
c.889G>T
n.3779G>T
c.3036G>T (p.Gln1012His)
c.1432G>T
c.-553+1817C>A (n.-553+1817C>A)
c.3192G>T (p.Gln1064His)
c.3096G>T (p.Gln1032His)
c.801G>T (p.Gln267His)
c.3219G>T (p.Gln1073His)
c.3123G>T (p.Gln1041His)
c.3063G>T (p.Gln1021His)
c.2967G>T (p.Gln989His)
 gnomAD v4
6g.43045325C>GCA364209023CUL7,KLC4n.1011G>C
c.2940G>C (p.Gln980His)
n.3501G>C
c.*1237G>C (n.*1237G>C)
n.3223G>C
n.3517G>C
c.889G>C
n.3779G>C
c.3036G>C (p.Gln1012His)
c.1432G>C
c.-553+1817C>G (n.-553+1817C>G)
c.3192G>C (p.Gln1064His)
c.3096G>C (p.Gln1032His)
c.801G>C (p.Gln267His)
c.3219G>C (p.Gln1073His)
c.3123G>C (p.Gln1041His)
c.3063G>C (p.Gln1021His)
c.2967G>C (p.Gln989His)
6g.43045325C>TCA450260592CUL7,KLC4n.1011G>A
c.2940G>A (p.Gln980=)
n.3501G>A
c.*1237G>A (n.*1237G>A)
n.3223G>A
n.3517G>A
c.889G>A
n.3779G>A
c.3036G>A (p.Gln1012=)
c.1432G>A
c.-553+1817C>T (n.-553+1817C>T)
c.3192G>A (p.Gln1064=)
c.3096G>A (p.Gln1032=)
c.801G>A (p.Gln267=)
c.3219G>A (p.Gln1073=)
c.3123G>A (p.Gln1041=)
c.3063G>A (p.Gln1021=)
c.2967G>A (p.Gln989=)

Number of alleles fetched