Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154584893G>ACA421231423ADARc.3488C>T (n.3488C>T)
c.3624C>T (p.Tyr1208=)
c.3477C>T (p.Tyr1159=)
c.3246C>T (p.Tyr1082=)
c.2709C>T (p.Tyr903=)
c.3594C>T (p.Tyr1198=)
n.2387C>T
c.3516C>T (p.Tyr1172=)
n.3579C>T
c.*1069C>T (n.*1069C>T)
n.4330C>T
c.*760C>T (n.*760C>T)
c.*1826C>T (n.*1826C>T)
n.4455C>T
c.2652C>T (p.Tyr884=)
c.3411C>T (p.Tyr1137=)
c.*3116C>T (n.*3116C>T)
n.3262C>T
c.*3194C>T (n.*3194C>T)
n.353C>T
c.3501C>T (p.Tyr1167=)
c.3459C>T (p.Tyr1153=)
c.3723C>T (p.Tyr1241=)
c.3645C>T (p.Tyr1215=)
c.3612C>T (p.Tyr1204=)
c.3621C>T (p.Tyr1207=)
c.2631C>T (p.Tyr877=)
 dbSNP
1g.154584893G>CCA342634617ADARc.3488C>G (n.3488C>G)
c.3624C>G (p.Tyr1208Ter)
c.3477C>G (p.Tyr1159Ter)
c.3246C>G (p.Tyr1082Ter)
c.2709C>G (p.Tyr903Ter)
c.3594C>G (p.Tyr1198Ter)
n.2387C>G
c.3516C>G (p.Tyr1172Ter)
n.3579C>G
c.*1069C>G (n.*1069C>G)
n.4330C>G
c.*760C>G (n.*760C>G)
c.*1826C>G (n.*1826C>G)
n.4455C>G
c.2652C>G (p.Tyr884Ter)
c.3411C>G (p.Tyr1137Ter)
c.*3116C>G (n.*3116C>G)
n.3262C>G
c.*3194C>G (n.*3194C>G)
n.353C>G
c.3501C>G (p.Tyr1167Ter)
c.3459C>G (p.Tyr1153Ter)
c.3723C>G (p.Tyr1241Ter)
c.3645C>G (p.Tyr1215Ter)
c.3612C>G (p.Tyr1204Ter)
c.3621C>G (p.Tyr1207Ter)
c.2631C>G (p.Tyr877Ter)
1g.154584893G=CA2480931194ADARc.3488C= (n.3488C=)
c.3624C= (p.Tyr1208=)
c.3477C= (p.Tyr1159=)
c.3246C= (p.Tyr1082=)
c.2709C= (p.Tyr903=)
c.3594C= (p.Tyr1198=)
n.2387C=
c.3516C= (p.Tyr1172=)
n.3579C=
c.*1069C= (n.*1069C=)
n.4330C=
c.*760C= (n.*760C=)
c.*1826C= (n.*1826C=)
n.4455C=
c.2652C= (p.Tyr884=)
c.3411C= (p.Tyr1137=)
c.*3116C= (n.*3116C=)
n.3262C=
c.*3194C= (n.*3194C=)
n.353C=
c.3501C= (p.Tyr1167=)
c.3459C= (p.Tyr1153=)
c.3723C= (p.Tyr1241=)
c.3645C= (p.Tyr1215=)
c.3612C= (p.Tyr1204=)
c.3621C= (p.Tyr1207=)
c.2631C= (p.Tyr877=)
1g.154584893G>TCA342634618ADARc.3488C>A (n.3488C>A)
c.3624C>A (p.Tyr1208Ter)
c.3477C>A (p.Tyr1159Ter)
c.3246C>A (p.Tyr1082Ter)
c.2709C>A (p.Tyr903Ter)
c.3594C>A (p.Tyr1198Ter)
n.2387C>A
c.3516C>A (p.Tyr1172Ter)
n.3579C>A
c.*1069C>A (n.*1069C>A)
n.4330C>A
c.*760C>A (n.*760C>A)
c.*1826C>A (n.*1826C>A)
n.4455C>A
c.2652C>A (p.Tyr884Ter)
c.3411C>A (p.Tyr1137Ter)
c.*3116C>A (n.*3116C>A)
n.3262C>A
c.*3194C>A (n.*3194C>A)
n.353C>A
c.3501C>A (p.Tyr1167Ter)
c.3459C>A (p.Tyr1153Ter)
c.3723C>A (p.Tyr1241Ter)
c.3645C>A (p.Tyr1215Ter)
c.3612C>A (p.Tyr1204Ter)
c.3621C>A (p.Tyr1207Ter)
c.2631C>A (p.Tyr877Ter)
 gnomAD v4
1g.154584894T>ACA342634619ADARc.3487A>T (n.3487A>T)
c.3623A>T (p.Tyr1208Phe)
c.3476A>T (p.Tyr1159Phe)
c.3245A>T (p.Tyr1082Phe)
c.2708A>T (p.Tyr903Phe)
c.3593A>T (p.Tyr1198Phe)
n.2386A>T
c.3515A>T (p.Tyr1172Phe)
n.3578A>T
c.*1068A>T (n.*1068A>T)
n.4329A>T
c.*759A>T (n.*759A>T)
c.*1825A>T (n.*1825A>T)
n.4454A>T
c.2651A>T (p.Tyr884Phe)
c.3410A>T (p.Tyr1137Phe)
c.*3115A>T (n.*3115A>T)
n.3261A>T
c.*3193A>T (n.*3193A>T)
n.352A>T
c.3500A>T (p.Tyr1167Phe)
c.3458A>T (p.Tyr1153Phe)
c.3722A>T (p.Tyr1241Phe)
c.3644A>T (p.Tyr1215Phe)
c.3611A>T (p.Tyr1204Phe)
c.3620A>T (p.Tyr1207Phe)
c.2630A>T (p.Tyr877Phe)
1g.154584894T>CCA342634620ADARc.3487A>G (n.3487A>G)
c.3623A>G (p.Tyr1208Cys)
c.3476A>G (p.Tyr1159Cys)
c.3245A>G (p.Tyr1082Cys)
c.2708A>G (p.Tyr903Cys)
c.3593A>G (p.Tyr1198Cys)
n.2386A>G
c.3515A>G (p.Tyr1172Cys)
n.3578A>G
c.*1068A>G (n.*1068A>G)
n.4329A>G
c.*759A>G (n.*759A>G)
c.*1825A>G (n.*1825A>G)
n.4454A>G
c.2651A>G (p.Tyr884Cys)
c.3410A>G (p.Tyr1137Cys)
c.*3115A>G (n.*3115A>G)
n.3261A>G
c.*3193A>G (n.*3193A>G)
n.352A>G
c.3500A>G (p.Tyr1167Cys)
c.3458A>G (p.Tyr1153Cys)
c.3722A>G (p.Tyr1241Cys)
c.3644A>G (p.Tyr1215Cys)
c.3611A>G (p.Tyr1204Cys)
c.3620A>G (p.Tyr1207Cys)
c.2630A>G (p.Tyr877Cys)
1g.154584894T>GCA342634621ADARc.3487A>C (n.3487A>C)
c.3623A>C (p.Tyr1208Ser)
c.3476A>C (p.Tyr1159Ser)
c.3245A>C (p.Tyr1082Ser)
c.2708A>C (p.Tyr903Ser)
c.3593A>C (p.Tyr1198Ser)
n.2386A>C
c.3515A>C (p.Tyr1172Ser)
n.3578A>C
c.*1068A>C (n.*1068A>C)
n.4329A>C
c.*759A>C (n.*759A>C)
c.*1825A>C (n.*1825A>C)
n.4454A>C
c.2651A>C (p.Tyr884Ser)
c.3410A>C (p.Tyr1137Ser)
c.*3115A>C (n.*3115A>C)
n.3261A>C
c.*3193A>C (n.*3193A>C)
n.352A>C
c.3500A>C (p.Tyr1167Ser)
c.3458A>C (p.Tyr1153Ser)
c.3722A>C (p.Tyr1241Ser)
c.3644A>C (p.Tyr1215Ser)
c.3611A>C (p.Tyr1204Ser)
c.3620A>C (p.Tyr1207Ser)
c.2630A>C (p.Tyr877Ser)
1g.154584895A>CCA342634622ADARc.3486T>G (n.3486T>G)
c.3622T>G (p.Tyr1208Asp)
c.3475T>G (p.Tyr1159Asp)
c.3244T>G (p.Tyr1082Asp)
c.2707T>G (p.Tyr903Asp)
c.3592T>G (p.Tyr1198Asp)
n.2385T>G
c.3514T>G (p.Tyr1172Asp)
n.3577T>G
c.*1067T>G (n.*1067T>G)
n.4328T>G
c.*758T>G (n.*758T>G)
c.*1824T>G (n.*1824T>G)
n.4453T>G
c.2650T>G (p.Tyr884Asp)
c.3409T>G (p.Tyr1137Asp)
c.*3114T>G (n.*3114T>G)
n.3260T>G
c.*3192T>G (n.*3192T>G)
n.351T>G
c.3499T>G (p.Tyr1167Asp)
c.3457T>G (p.Tyr1153Asp)
c.3721T>G (p.Tyr1241Asp)
c.3643T>G (p.Tyr1215Asp)
c.3610T>G (p.Tyr1204Asp)
c.3619T>G (p.Tyr1207Asp)
c.2629T>G (p.Tyr877Asp)
1g.154584895A>GCA342634624ADARc.3486T>C (n.3486T>C)
c.3622T>C (p.Tyr1208His)
c.3475T>C (p.Tyr1159His)
c.3244T>C (p.Tyr1082His)
c.2707T>C (p.Tyr903His)
c.3592T>C (p.Tyr1198His)
n.2385T>C
c.3514T>C (p.Tyr1172His)
n.3577T>C
c.*1067T>C (n.*1067T>C)
n.4328T>C
c.*758T>C (n.*758T>C)
c.*1824T>C (n.*1824T>C)
n.4453T>C
c.2650T>C (p.Tyr884His)
c.3409T>C (p.Tyr1137His)
c.*3114T>C (n.*3114T>C)
n.3260T>C
c.*3192T>C (n.*3192T>C)
n.351T>C
c.3499T>C (p.Tyr1167His)
c.3457T>C (p.Tyr1153His)
c.3721T>C (p.Tyr1241His)
c.3643T>C (p.Tyr1215His)
c.3610T>C (p.Tyr1204His)
c.3619T>C (p.Tyr1207His)
c.2629T>C (p.Tyr877His)
1g.154584895A>TCA342634623ADARc.3486T>A (n.3486T>A)
c.3622T>A (p.Tyr1208Asn)
c.3475T>A (p.Tyr1159Asn)
c.3244T>A (p.Tyr1082Asn)
c.2707T>A (p.Tyr903Asn)
c.3592T>A (p.Tyr1198Asn)
n.2385T>A
c.3514T>A (p.Tyr1172Asn)
n.3577T>A
c.*1067T>A (n.*1067T>A)
n.4328T>A
c.*758T>A (n.*758T>A)
c.*1824T>A (n.*1824T>A)
n.4453T>A
c.2650T>A (p.Tyr884Asn)
c.3409T>A (p.Tyr1137Asn)
c.*3114T>A (n.*3114T>A)
n.3260T>A
c.*3192T>A (n.*3192T>A)
n.351T>A
c.3499T>A (p.Tyr1167Asn)
c.3457T>A (p.Tyr1153Asn)
c.3721T>A (p.Tyr1241Asn)
c.3643T>A (p.Tyr1215Asn)
c.3610T>A (p.Tyr1204Asn)
c.3619T>A (p.Tyr1207Asn)
c.2629T>A (p.Tyr877Asn)
1g.154584896G>ACA421231428ADARc.3485C>T (n.3485C>T)
c.3621C>T (p.Asn1207=)
c.3474C>T (p.Asn1158=)
c.3243C>T (p.Asn1081=)
c.2706C>T (p.Asn902=)
c.3591C>T (p.Asn1197=)
n.2384C>T
c.3513C>T (p.Asn1171=)
n.3576C>T
c.*1066C>T (n.*1066C>T)
n.4327C>T
c.*757C>T (n.*757C>T)
c.*1823C>T (n.*1823C>T)
n.4452C>T
c.2649C>T (p.Asn883=)
c.3408C>T (p.Asn1136=)
c.*3113C>T (n.*3113C>T)
n.3259C>T
c.*3191C>T (n.*3191C>T)
n.350C>T
c.3498C>T (p.Asn1166=)
c.3456C>T (p.Asn1152=)
c.3720C>T (p.Asn1240=)
c.3642C>T (p.Asn1214=)
c.3609C>T (p.Asn1203=)
c.3618C>T (p.Asn1206=)
c.2628C>T (p.Asn876=)
1g.154584896G>CCA342634625ADARc.3485C>G (n.3485C>G)
c.3621C>G (p.Asn1207Lys)
c.3474C>G (p.Asn1158Lys)
c.3243C>G (p.Asn1081Lys)
c.2706C>G (p.Asn902Lys)
c.3591C>G (p.Asn1197Lys)
n.2384C>G
c.3513C>G (p.Asn1171Lys)
n.3576C>G
c.*1066C>G (n.*1066C>G)
n.4327C>G
c.*757C>G (n.*757C>G)
c.*1823C>G (n.*1823C>G)
n.4452C>G
c.2649C>G (p.Asn883Lys)
c.3408C>G (p.Asn1136Lys)
c.*3113C>G (n.*3113C>G)
n.3259C>G
c.*3191C>G (n.*3191C>G)
n.350C>G
c.3498C>G (p.Asn1166Lys)
c.3456C>G (p.Asn1152Lys)
c.3720C>G (p.Asn1240Lys)
c.3642C>G (p.Asn1214Lys)
c.3609C>G (p.Asn1203Lys)
c.3618C>G (p.Asn1206Lys)
c.2628C>G (p.Asn876Lys)
1g.154584896G>TCA342634626ADARc.3485C>A (n.3485C>A)
c.3621C>A (p.Asn1207Lys)
c.3474C>A (p.Asn1158Lys)
c.3243C>A (p.Asn1081Lys)
c.2706C>A (p.Asn902Lys)
c.3591C>A (p.Asn1197Lys)
n.2384C>A
c.3513C>A (p.Asn1171Lys)
n.3576C>A
c.*1066C>A (n.*1066C>A)
n.4327C>A
c.*757C>A (n.*757C>A)
c.*1823C>A (n.*1823C>A)
n.4452C>A
c.2649C>A (p.Asn883Lys)
c.3408C>A (p.Asn1136Lys)
c.*3113C>A (n.*3113C>A)
n.3259C>A
c.*3191C>A (n.*3191C>A)
n.350C>A
c.3498C>A (p.Asn1166Lys)
c.3456C>A (p.Asn1152Lys)
c.3720C>A (p.Asn1240Lys)
c.3642C>A (p.Asn1214Lys)
c.3609C>A (p.Asn1203Lys)
c.3618C>A (p.Asn1206Lys)
c.2628C>A (p.Asn876Lys)
1g.154584897T>ACA342634627ADARc.3484A>T (n.3484A>T)
c.3620A>T (p.Asn1207Ile)
c.3473A>T (p.Asn1158Ile)
c.3242A>T (p.Asn1081Ile)
c.2705A>T (p.Asn902Ile)
c.3590A>T (p.Asn1197Ile)
n.2383A>T
c.3512A>T (p.Asn1171Ile)
n.3575A>T
c.*1065A>T (n.*1065A>T)
n.4326A>T
c.*756A>T (n.*756A>T)
c.*1822A>T (n.*1822A>T)
n.4451A>T
c.2648A>T (p.Asn883Ile)
c.3407A>T (p.Asn1136Ile)
c.*3112A>T (n.*3112A>T)
n.3258A>T
c.*3190A>T (n.*3190A>T)
n.349A>T
c.3497A>T (p.Asn1166Ile)
c.3455A>T (p.Asn1152Ile)
c.3719A>T (p.Asn1240Ile)
c.3641A>T (p.Asn1214Ile)
c.3608A>T (p.Asn1203Ile)
c.3617A>T (p.Asn1206Ile)
c.2627A>T (p.Asn876Ile)
1g.154584897T>CCA342634629ADARc.3484A>G (n.3484A>G)
c.3620A>G (p.Asn1207Ser)
c.3473A>G (p.Asn1158Ser)
c.3242A>G (p.Asn1081Ser)
c.2705A>G (p.Asn902Ser)
c.3590A>G (p.Asn1197Ser)
n.2383A>G
c.3512A>G (p.Asn1171Ser)
n.3575A>G
c.*1065A>G (n.*1065A>G)
n.4326A>G
c.*756A>G (n.*756A>G)
c.*1822A>G (n.*1822A>G)
n.4451A>G
c.2648A>G (p.Asn883Ser)
c.3407A>G (p.Asn1136Ser)
c.*3112A>G (n.*3112A>G)
n.3258A>G
c.*3190A>G (n.*3190A>G)
n.349A>G
c.3497A>G (p.Asn1166Ser)
c.3455A>G (p.Asn1152Ser)
c.3719A>G (p.Asn1240Ser)
c.3641A>G (p.Asn1214Ser)
c.3608A>G (p.Asn1203Ser)
c.3617A>G (p.Asn1206Ser)
c.2627A>G (p.Asn876Ser)
1g.154584897T>GCA342634628ADARc.3484A>C (n.3484A>C)
c.3620A>C (p.Asn1207Thr)
c.3473A>C (p.Asn1158Thr)
c.3242A>C (p.Asn1081Thr)
c.2705A>C (p.Asn902Thr)
c.3590A>C (p.Asn1197Thr)
n.2383A>C
c.3512A>C (p.Asn1171Thr)
n.3575A>C
c.*1065A>C (n.*1065A>C)
n.4326A>C
c.*756A>C (n.*756A>C)
c.*1822A>C (n.*1822A>C)
n.4451A>C
c.2648A>C (p.Asn883Thr)
c.3407A>C (p.Asn1136Thr)
c.*3112A>C (n.*3112A>C)
n.3258A>C
c.*3190A>C (n.*3190A>C)
n.349A>C
c.3497A>C (p.Asn1166Thr)
c.3455A>C (p.Asn1152Thr)
c.3719A>C (p.Asn1240Thr)
c.3641A>C (p.Asn1214Thr)
c.3608A>C (p.Asn1203Thr)
c.3617A>C (p.Asn1206Thr)
c.2627A>C (p.Asn876Thr)
1g.154584898T>ACA342634630ADARc.3483A>T (n.3483A>T)
c.3619A>T (p.Asn1207Tyr)
c.3472A>T (p.Asn1158Tyr)
c.3241A>T (p.Asn1081Tyr)
c.2704A>T (p.Asn902Tyr)
c.3589A>T (p.Asn1197Tyr)
n.2382A>T
c.3511A>T (p.Asn1171Tyr)
n.3574A>T
c.*1064A>T (n.*1064A>T)
n.4325A>T
c.*755A>T (n.*755A>T)
c.*1821A>T (n.*1821A>T)
n.4450A>T
c.2647A>T (p.Asn883Tyr)
c.3406A>T (p.Asn1136Tyr)
c.*3111A>T (n.*3111A>T)
n.3257A>T
c.*3189A>T (n.*3189A>T)
n.348A>T
c.3496A>T (p.Asn1166Tyr)
c.3454A>T (p.Asn1152Tyr)
c.3718A>T (p.Asn1240Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3607A>T (p.Asn1203Tyr)
c.3616A>T (p.Asn1206Tyr)
c.2626A>T (p.Asn876Tyr)
1g.154584898T>CCA342634632ADARc.3483A>G (n.3483A>G)
c.3619A>G (p.Asn1207Asp)
c.3472A>G (p.Asn1158Asp)
c.3241A>G (p.Asn1081Asp)
c.2704A>G (p.Asn902Asp)
c.3589A>G (p.Asn1197Asp)
n.2382A>G
c.3511A>G (p.Asn1171Asp)
n.3574A>G
c.*1064A>G (n.*1064A>G)
n.4325A>G
c.*755A>G (n.*755A>G)
c.*1821A>G (n.*1821A>G)
n.4450A>G
c.2647A>G (p.Asn883Asp)
c.3406A>G (p.Asn1136Asp)
c.*3111A>G (n.*3111A>G)
n.3257A>G
c.*3189A>G (n.*3189A>G)
n.348A>G
c.3496A>G (p.Asn1166Asp)
c.3454A>G (p.Asn1152Asp)
c.3718A>G (p.Asn1240Asp)
c.3640A>G (p.Asn1214Asp)
c.3607A>G (p.Asn1203Asp)
c.3616A>G (p.Asn1206Asp)
c.2626A>G (p.Asn876Asp)
 gnomAD v4
1g.154584898T>GCA342634631ADARc.3483A>C (n.3483A>C)
c.3619A>C (p.Asn1207His)
c.3472A>C (p.Asn1158His)
c.3241A>C (p.Asn1081His)
c.2704A>C (p.Asn902His)
c.3589A>C (p.Asn1197His)
n.2382A>C
c.3511A>C (p.Asn1171His)
n.3574A>C
c.*1064A>C (n.*1064A>C)
n.4325A>C
c.*755A>C (n.*755A>C)
c.*1821A>C (n.*1821A>C)
n.4450A>C
c.2647A>C (p.Asn883His)
c.3406A>C (p.Asn1136His)
c.*3111A>C (n.*3111A>C)
n.3257A>C
c.*3189A>C (n.*3189A>C)
n.348A>C
c.3496A>C (p.Asn1166His)
c.3454A>C (p.Asn1152His)
c.3718A>C (p.Asn1240His)
c.3640A>C (p.Asn1214His)
c.3607A>C (p.Asn1203His)
c.3616A>C (p.Asn1206His)
c.2626A>C (p.Asn876His)
 gnomAD v4
1g.154584899C>ACA342634633ADARc.3482G>T (n.3482G>T)
c.3618G>T (p.Lys1206Asn)
c.3471G>T (p.Lys1157Asn)
c.3240G>T (p.Lys1080Asn)
c.2703G>T (p.Lys901Asn)
c.3588G>T (p.Lys1196Asn)
n.2381G>T
c.3510G>T (p.Lys1170Asn)
n.3573G>T
c.*1063G>T (n.*1063G>T)
n.4324G>T
c.*754G>T (n.*754G>T)
c.*1820G>T (n.*1820G>T)
n.4449G>T
c.2646G>T (p.Lys882Asn)
c.3405G>T (p.Lys1135Asn)
c.*3110G>T (n.*3110G>T)
n.3256G>T
c.*3188G>T (n.*3188G>T)
n.347G>T
c.3495G>T (p.Lys1165Asn)
c.3453G>T (p.Lys1151Asn)
c.3717G>T (p.Lys1239Asn)
c.3639G>T (p.Lys1213Asn)
c.3606G>T (p.Lys1202Asn)
c.3615G>T (p.Lys1205Asn)
c.2625G>T (p.Lys875Asn)
1g.154584899C>GCA342634634ADARc.3482G>C (n.3482G>C)
c.3618G>C (p.Lys1206Asn)
c.3471G>C (p.Lys1157Asn)
c.3240G>C (p.Lys1080Asn)
c.2703G>C (p.Lys901Asn)
c.3588G>C (p.Lys1196Asn)
n.2381G>C
c.3510G>C (p.Lys1170Asn)
n.3573G>C
c.*1063G>C (n.*1063G>C)
n.4324G>C
c.*754G>C (n.*754G>C)
c.*1820G>C (n.*1820G>C)
n.4449G>C
c.2646G>C (p.Lys882Asn)
c.3405G>C (p.Lys1135Asn)
c.*3110G>C (n.*3110G>C)
n.3256G>C
c.*3188G>C (n.*3188G>C)
n.347G>C
c.3495G>C (p.Lys1165Asn)
c.3453G>C (p.Lys1151Asn)
c.3717G>C (p.Lys1239Asn)
c.3639G>C (p.Lys1213Asn)
c.3606G>C (p.Lys1202Asn)
c.3615G>C (p.Lys1205Asn)
c.2625G>C (p.Lys875Asn)
1g.154584899C>TCA421231435ADARc.3482G>A (n.3482G>A)
c.3618G>A (p.Lys1206=)
c.3471G>A (p.Lys1157=)
c.3240G>A (p.Lys1080=)
c.2703G>A (p.Lys901=)
c.3588G>A (p.Lys1196=)
n.2381G>A
c.3510G>A (p.Lys1170=)
n.3573G>A
c.*1063G>A (n.*1063G>A)
n.4324G>A
c.*754G>A (n.*754G>A)
c.*1820G>A (n.*1820G>A)
n.4449G>A
c.2646G>A (p.Lys882=)
c.3405G>A (p.Lys1135=)
c.*3110G>A (n.*3110G>A)
n.3256G>A
c.*3188G>A (n.*3188G>A)
n.347G>A
c.3495G>A (p.Lys1165=)
c.3453G>A (p.Lys1151=)
c.3717G>A (p.Lys1239=)
c.3639G>A (p.Lys1213=)
c.3606G>A (p.Lys1202=)
c.3615G>A (p.Lys1205=)
c.2625G>A (p.Lys875=)
 gnomAD v4
1g.154584900T>ACA342634635ADARc.3481A>T (n.3481A>T)
c.3617A>T (p.Lys1206Met)
c.3470A>T (p.Lys1157Met)
c.3239A>T (p.Lys1080Met)
c.2702A>T (p.Lys901Met)
c.3587A>T (p.Lys1196Met)
n.2380A>T
c.3509A>T (p.Lys1170Met)
n.3572A>T
c.*1062A>T (n.*1062A>T)
n.4323A>T
c.*753A>T (n.*753A>T)
c.*1819A>T (n.*1819A>T)
n.4448A>T
c.2645A>T (p.Lys882Met)
c.3404A>T (p.Lys1135Met)
c.*3109A>T (n.*3109A>T)
n.3255A>T
c.*3187A>T (n.*3187A>T)
n.346A>T
c.3494A>T (p.Lys1165Met)
c.3452A>T (p.Lys1151Met)
c.3716A>T (p.Lys1239Met)
c.3638A>T (p.Lys1213Met)
c.3605A>T (p.Lys1202Met)
c.3614A>T (p.Lys1205Met)
c.2624A>T (p.Lys875Met)
1g.154584900T>CCA342634637ADARc.3481A>G (n.3481A>G)
c.3617A>G (p.Lys1206Arg)
c.3470A>G (p.Lys1157Arg)
c.3239A>G (p.Lys1080Arg)
c.2702A>G (p.Lys901Arg)
c.3587A>G (p.Lys1196Arg)
n.2380A>G
c.3509A>G (p.Lys1170Arg)
n.3572A>G
c.*1062A>G (n.*1062A>G)
n.4323A>G
c.*753A>G (n.*753A>G)
c.*1819A>G (n.*1819A>G)
n.4448A>G
c.2645A>G (p.Lys882Arg)
c.3404A>G (p.Lys1135Arg)
c.*3109A>G (n.*3109A>G)
n.3255A>G
c.*3187A>G (n.*3187A>G)
n.346A>G
c.3494A>G (p.Lys1165Arg)
c.3452A>G (p.Lys1151Arg)
c.3716A>G (p.Lys1239Arg)
c.3638A>G (p.Lys1213Arg)
c.3605A>G (p.Lys1202Arg)
c.3614A>G (p.Lys1205Arg)
c.2624A>G (p.Lys875Arg)
1g.154584900T>GCA342634636ADARc.3481A>C (n.3481A>C)
c.3617A>C (p.Lys1206Thr)
c.3470A>C (p.Lys1157Thr)
c.3239A>C (p.Lys1080Thr)
c.2702A>C (p.Lys901Thr)
c.3587A>C (p.Lys1196Thr)
n.2380A>C
c.3509A>C (p.Lys1170Thr)
n.3572A>C
c.*1062A>C (n.*1062A>C)
n.4323A>C
c.*753A>C (n.*753A>C)
c.*1819A>C (n.*1819A>C)
n.4448A>C
c.2645A>C (p.Lys882Thr)
c.3404A>C (p.Lys1135Thr)
c.*3109A>C (n.*3109A>C)
n.3255A>C
c.*3187A>C (n.*3187A>C)
n.346A>C
c.3494A>C (p.Lys1165Thr)
c.3452A>C (p.Lys1151Thr)
c.3716A>C (p.Lys1239Thr)
c.3638A>C (p.Lys1213Thr)
c.3605A>C (p.Lys1202Thr)
c.3614A>C (p.Lys1205Thr)
c.2624A>C (p.Lys875Thr)
1g.154584901T>ACA342634638ADARc.3480A>T (n.3480A>T)
c.3616A>T (p.Lys1206Ter)
c.3469A>T (p.Lys1157Ter)
c.3238A>T (p.Lys1080Ter)
c.2701A>T (p.Lys901Ter)
c.3586A>T (p.Lys1196Ter)
n.2379A>T
c.3508A>T (p.Lys1170Ter)
n.3571A>T
c.*1061A>T (n.*1061A>T)
n.4322A>T
c.*752A>T (n.*752A>T)
c.*1818A>T (n.*1818A>T)
n.4447A>T
c.2644A>T (p.Lys882Ter)
c.3403A>T (p.Lys1135Ter)
c.*3108A>T (n.*3108A>T)
n.3254A>T
c.*3186A>T (n.*3186A>T)
n.345A>T
c.3493A>T (p.Lys1165Ter)
c.3451A>T (p.Lys1151Ter)
c.3715A>T (p.Lys1239Ter)
c.3637A>T (p.Lys1213Ter)
c.3604A>T (p.Lys1202Ter)
c.3613A>T (p.Lys1205Ter)
c.2623A>T (p.Lys875Ter)
1g.154584901T>CCA342634640ADARc.3480A>G (n.3480A>G)
c.3616A>G (p.Lys1206Glu)
c.3469A>G (p.Lys1157Glu)
c.3238A>G (p.Lys1080Glu)
c.2701A>G (p.Lys901Glu)
c.3586A>G (p.Lys1196Glu)
n.2379A>G
c.3508A>G (p.Lys1170Glu)
n.3571A>G
c.*1061A>G (n.*1061A>G)
n.4322A>G
c.*752A>G (n.*752A>G)
c.*1818A>G (n.*1818A>G)
n.4447A>G
c.2644A>G (p.Lys882Glu)
c.3403A>G (p.Lys1135Glu)
c.*3108A>G (n.*3108A>G)
n.3254A>G
c.*3186A>G (n.*3186A>G)
n.345A>G
c.3493A>G (p.Lys1165Glu)
c.3451A>G (p.Lys1151Glu)
c.3715A>G (p.Lys1239Glu)
c.3637A>G (p.Lys1213Glu)
c.3604A>G (p.Lys1202Glu)
c.3613A>G (p.Lys1205Glu)
c.2623A>G (p.Lys875Glu)
 gnomAD v4
1g.154584901T>GCA342634639ADARc.3480A>C (n.3480A>C)
c.3616A>C (p.Lys1206Gln)
c.3469A>C (p.Lys1157Gln)
c.3238A>C (p.Lys1080Gln)
c.2701A>C (p.Lys901Gln)
c.3586A>C (p.Lys1196Gln)
n.2379A>C
c.3508A>C (p.Lys1170Gln)
n.3571A>C
c.*1061A>C (n.*1061A>C)
n.4322A>C
c.*752A>C (n.*752A>C)
c.*1818A>C (n.*1818A>C)
n.4447A>C
c.2644A>C (p.Lys882Gln)
c.3403A>C (p.Lys1135Gln)
c.*3108A>C (n.*3108A>C)
n.3254A>C
c.*3186A>C (n.*3186A>C)
n.345A>C
c.3493A>C (p.Lys1165Gln)
c.3451A>C (p.Lys1151Gln)
c.3715A>C (p.Lys1239Gln)
c.3637A>C (p.Lys1213Gln)
c.3604A>C (p.Lys1202Gln)
c.3613A>C (p.Lys1205Gln)
c.2623A>C (p.Lys875Gln)
1g.154584902G>ACA421231437ADARc.3479C>T (n.3479C>T)
c.3615C>T (p.Ala1205=)
c.3468C>T (p.Ala1156=)
c.3237C>T (p.Ala1079=)
c.2700C>T (p.Ala900=)
c.3585C>T (p.Ala1195=)
n.2378C>T
c.3507C>T (p.Ala1169=)
n.3570C>T
c.*1060C>T (n.*1060C>T)
n.4321C>T
c.*751C>T (n.*751C>T)
c.*1817C>T (n.*1817C>T)
n.4446C>T
c.2643C>T (p.Ala881=)
c.3402C>T (p.Ala1134=)
c.*3107C>T (n.*3107C>T)
n.3253C>T
c.*3185C>T (n.*3185C>T)
n.344C>T
c.3492C>T (p.Ala1164=)
c.3450C>T (p.Ala1150=)
c.3714C>T (p.Ala1238=)
c.3636C>T (p.Ala1212=)
c.3603C>T (p.Ala1201=)
c.3612C>T (p.Ala1204=)
c.2622C>T (p.Ala874=)
1g.154584902G>CCA421231438ADARc.3479C>G (n.3479C>G)
c.3615C>G (p.Ala1205=)
c.3468C>G (p.Ala1156=)
c.3237C>G (p.Ala1079=)
c.2700C>G (p.Ala900=)
c.3585C>G (p.Ala1195=)
n.2378C>G
c.3507C>G (p.Ala1169=)
n.3570C>G
c.*1060C>G (n.*1060C>G)
n.4321C>G
c.*751C>G (n.*751C>G)
c.*1817C>G (n.*1817C>G)
n.4446C>G
c.2643C>G (p.Ala881=)
c.3402C>G (p.Ala1134=)
c.*3107C>G (n.*3107C>G)
n.3253C>G
c.*3185C>G (n.*3185C>G)
n.344C>G
c.3492C>G (p.Ala1164=)
c.3450C>G (p.Ala1150=)
c.3714C>G (p.Ala1238=)
c.3636C>G (p.Ala1212=)
c.3603C>G (p.Ala1201=)
c.3612C>G (p.Ala1204=)
c.2622C>G (p.Ala874=)
1g.154584902G>TCA421231439ADARc.3479C>A (n.3479C>A)
c.3615C>A (p.Ala1205=)
c.3468C>A (p.Ala1156=)
c.3237C>A (p.Ala1079=)
c.2700C>A (p.Ala900=)
c.3585C>A (p.Ala1195=)
n.2378C>A
c.3507C>A (p.Ala1169=)
n.3570C>A
c.*1060C>A (n.*1060C>A)
n.4321C>A
c.*751C>A (n.*751C>A)
c.*1817C>A (n.*1817C>A)
n.4446C>A
c.2643C>A (p.Ala881=)
c.3402C>A (p.Ala1134=)
c.*3107C>A (n.*3107C>A)
n.3253C>A
c.*3185C>A (n.*3185C>A)
n.344C>A
c.3492C>A (p.Ala1164=)
c.3450C>A (p.Ala1150=)
c.3714C>A (p.Ala1238=)
c.3636C>A (p.Ala1212=)
c.3603C>A (p.Ala1201=)
c.3612C>A (p.Ala1204=)
c.2622C>A (p.Ala874=)
1g.154584903G>ACA342634641ADARc.3478C>T (n.3478C>T)
c.3614C>T (p.Ala1205Val)
c.3467C>T (p.Ala1156Val)
c.3236C>T (p.Ala1079Val)
c.2699C>T (p.Ala900Val)
c.3584C>T (p.Ala1195Val)
n.2377C>T
c.3506C>T (p.Ala1169Val)
n.3569C>T
c.*1059C>T (n.*1059C>T)
n.4320C>T
c.*750C>T (n.*750C>T)
c.*1816C>T (n.*1816C>T)
n.4445C>T
c.2642C>T (p.Ala881Val)
c.3401C>T (p.Ala1134Val)
c.*3106C>T (n.*3106C>T)
n.3252C>T
c.*3184C>T (n.*3184C>T)
n.343C>T
c.3491C>T (p.Ala1164Val)
c.3449C>T (p.Ala1150Val)
c.3713C>T (p.Ala1238Val)
c.3635C>T (p.Ala1212Val)
c.3602C>T (p.Ala1201Val)
c.3611C>T (p.Ala1204Val)
c.2621C>T (p.Ala874Val)
1g.154584903G>CCA30848578ADARc.3478C>G (n.3478C>G)
c.3614C>G (p.Ala1205Gly)
c.3467C>G (p.Ala1156Gly)
c.3236C>G (p.Ala1079Gly)
c.2699C>G (p.Ala900Gly)
c.3584C>G (p.Ala1195Gly)
n.2377C>G
c.3506C>G (p.Ala1169Gly)
n.3569C>G
c.*1059C>G (n.*1059C>G)
n.4320C>G
c.*750C>G (n.*750C>G)
c.*1816C>G (n.*1816C>G)
n.4445C>G
c.2642C>G (p.Ala881Gly)
c.3401C>G (p.Ala1134Gly)
c.*3106C>G (n.*3106C>G)
n.3252C>G
c.*3184C>G (n.*3184C>G)
n.343C>G
c.3491C>G (p.Ala1164Gly)
c.3449C>G (p.Ala1150Gly)
c.3713C>G (p.Ala1238Gly)
c.3635C>G (p.Ala1212Gly)
c.3602C>G (p.Ala1201Gly)
c.3611C>G (p.Ala1204Gly)
c.2621C>G (p.Ala874Gly)
 ClinVar dbSNP
1g.154584903G=CA2480931195ADARc.3478C= (n.3478C=)
c.3614C= (p.Ala1205=)
c.3467C= (p.Ala1156=)
c.3236C= (p.Ala1079=)
c.2699C= (p.Ala900=)
c.3584C= (p.Ala1195=)
n.2377C=
c.3506C= (p.Ala1169=)
n.3569C=
c.*1059C= (n.*1059C=)
n.4320C=
c.*750C= (n.*750C=)
c.*1816C= (n.*1816C=)
n.4445C=
c.2642C= (p.Ala881=)
c.3401C= (p.Ala1134=)
c.*3106C= (n.*3106C=)
n.3252C=
c.*3184C= (n.*3184C=)
n.343C=
c.3491C= (p.Ala1164=)
c.3449C= (p.Ala1150=)
c.3713C= (p.Ala1238=)
c.3635C= (p.Ala1212=)
c.3602C= (p.Ala1201=)
c.3611C= (p.Ala1204=)
c.2621C= (p.Ala874=)
1g.154584903G>TCA342634642ADARc.3478C>A (n.3478C>A)
c.3614C>A (p.Ala1205Asp)
c.3467C>A (p.Ala1156Asp)
c.3236C>A (p.Ala1079Asp)
c.2699C>A (p.Ala900Asp)
c.3584C>A (p.Ala1195Asp)
n.2377C>A
c.3506C>A (p.Ala1169Asp)
n.3569C>A
c.*1059C>A (n.*1059C>A)
n.4320C>A
c.*750C>A (n.*750C>A)
c.*1816C>A (n.*1816C>A)
n.4445C>A
c.2642C>A (p.Ala881Asp)
c.3401C>A (p.Ala1134Asp)
c.*3106C>A (n.*3106C>A)
n.3252C>A
c.*3184C>A (n.*3184C>A)
n.343C>A
c.3491C>A (p.Ala1164Asp)
c.3449C>A (p.Ala1150Asp)
c.3713C>A (p.Ala1238Asp)
c.3635C>A (p.Ala1212Asp)
c.3602C>A (p.Ala1201Asp)
c.3611C>A (p.Ala1204Asp)
c.2621C>A (p.Ala874Asp)
1g.154584904C>ACA342634643ADARc.3477G>T (n.3477G>T)
c.3613G>T (p.Ala1205Ser)
c.3466G>T (p.Ala1156Ser)
c.3235G>T (p.Ala1079Ser)
c.2698G>T (p.Ala900Ser)
c.3583G>T (p.Ala1195Ser)
n.2376G>T
c.3505G>T (p.Ala1169Ser)
n.3568G>T
c.*1058G>T (n.*1058G>T)
n.4319G>T
c.*749G>T (n.*749G>T)
c.*1815G>T (n.*1815G>T)
n.4444G>T
c.2641G>T (p.Ala881Ser)
c.3400G>T (p.Ala1134Ser)
c.*3105G>T (n.*3105G>T)
n.3251G>T
c.*3183G>T (n.*3183G>T)
n.342G>T
c.3490G>T (p.Ala1164Ser)
c.3448G>T (p.Ala1150Ser)
c.3712G>T (p.Ala1238Ser)
c.3634G>T (p.Ala1212Ser)
c.3601G>T (p.Ala1201Ser)
c.3610G>T (p.Ala1204Ser)
c.2620G>T (p.Ala874Ser)
1g.154584904C>GCA342634645ADARc.3477G>C (n.3477G>C)
c.3613G>C (p.Ala1205Pro)
c.3466G>C (p.Ala1156Pro)
c.3235G>C (p.Ala1079Pro)
c.2698G>C (p.Ala900Pro)
c.3583G>C (p.Ala1195Pro)
n.2376G>C
c.3505G>C (p.Ala1169Pro)
n.3568G>C
c.*1058G>C (n.*1058G>C)
n.4319G>C
c.*749G>C (n.*749G>C)
c.*1815G>C (n.*1815G>C)
n.4444G>C
c.2641G>C (p.Ala881Pro)
c.3400G>C (p.Ala1134Pro)
c.*3105G>C (n.*3105G>C)
n.3251G>C
c.*3183G>C (n.*3183G>C)
n.342G>C
c.3490G>C (p.Ala1164Pro)
c.3448G>C (p.Ala1150Pro)
c.3712G>C (p.Ala1238Pro)
c.3634G>C (p.Ala1212Pro)
c.3601G>C (p.Ala1201Pro)
c.3610G>C (p.Ala1204Pro)
c.2620G>C (p.Ala874Pro)
1g.154584904C>TCA342634644ADARc.3477G>A (n.3477G>A)
c.3613G>A (p.Ala1205Thr)
c.3466G>A (p.Ala1156Thr)
c.3235G>A (p.Ala1079Thr)
c.2698G>A (p.Ala900Thr)
c.3583G>A (p.Ala1195Thr)
n.2376G>A
c.3505G>A (p.Ala1169Thr)
n.3568G>A
c.*1058G>A (n.*1058G>A)
n.4319G>A
c.*749G>A (n.*749G>A)
c.*1815G>A (n.*1815G>A)
n.4444G>A
c.2641G>A (p.Ala881Thr)
c.3400G>A (p.Ala1134Thr)
c.*3105G>A (n.*3105G>A)
n.3251G>A
c.*3183G>A (n.*3183G>A)
n.342G>A
c.3490G>A (p.Ala1164Thr)
c.3448G>A (p.Ala1150Thr)
c.3712G>A (p.Ala1238Thr)
c.3634G>A (p.Ala1212Thr)
c.3601G>A (p.Ala1201Thr)
c.3610G>A (p.Ala1204Thr)
c.2620G>A (p.Ala874Thr)
 COSMIC COSMIC
1g.154584905C>ACA421231440ADARc.3476G>T (n.3476G>T)
c.3612G>T (p.Thr1204=)
c.3465G>T (p.Thr1155=)
c.3234G>T (p.Thr1078=)
c.2697G>T (p.Thr899=)
c.3582G>T (p.Thr1194=)
n.2375G>T
c.3504G>T (p.Thr1168=)
n.3567G>T
c.*1057G>T (n.*1057G>T)
n.4318G>T
c.*748G>T (n.*748G>T)
c.*1814G>T (n.*1814G>T)
n.4443G>T
c.2640G>T (p.Thr880=)
c.3399G>T (p.Thr1133=)
c.*3104G>T (n.*3104G>T)
n.3250G>T
c.*3182G>T (n.*3182G>T)
n.341G>T
c.3489G>T (p.Thr1163=)
c.3447G>T (p.Thr1149=)
c.3711G>T (p.Thr1237=)
c.3633G>T (p.Thr1211=)
c.3600G>T (p.Thr1200=)
c.3609G>T (p.Thr1203=)
c.2619G>T (p.Thr873=)
 dbSNP
1g.154584905C=CA2480931196ADARc.3476G= (n.3476G=)
c.3612G= (p.Thr1204=)
c.3465G= (p.Thr1155=)
c.3234G= (p.Thr1078=)
c.2697G= (p.Thr899=)
c.3582G= (p.Thr1194=)
n.2375G=
c.3504G= (p.Thr1168=)
n.3567G=
c.*1057G= (n.*1057G=)
n.4318G=
c.*748G= (n.*748G=)
c.*1814G= (n.*1814G=)
n.4443G=
c.2640G= (p.Thr880=)
c.3399G= (p.Thr1133=)
c.*3104G= (n.*3104G=)
n.3250G=
c.*3182G= (n.*3182G=)
n.341G=
c.3489G= (p.Thr1163=)
c.3447G= (p.Thr1149=)
c.3711G= (p.Thr1237=)
c.3633G= (p.Thr1211=)
c.3600G= (p.Thr1200=)
c.3609G= (p.Thr1203=)
c.2619G= (p.Thr873=)
1g.154584905C>GCA421231441ADARc.3476G>C (n.3476G>C)
c.3612G>C (p.Thr1204=)
c.3465G>C (p.Thr1155=)
c.3234G>C (p.Thr1078=)
c.2697G>C (p.Thr899=)
c.3582G>C (p.Thr1194=)
n.2375G>C
c.3504G>C (p.Thr1168=)
n.3567G>C
c.*1057G>C (n.*1057G>C)
n.4318G>C
c.*748G>C (n.*748G>C)
c.*1814G>C (n.*1814G>C)
n.4443G>C
c.2640G>C (p.Thr880=)
c.3399G>C (p.Thr1133=)
c.*3104G>C (n.*3104G>C)
n.3250G>C
c.*3182G>C (n.*3182G>C)
n.341G>C
c.3489G>C (p.Thr1163=)
c.3447G>C (p.Thr1149=)
c.3711G>C (p.Thr1237=)
c.3633G>C (p.Thr1211=)
c.3600G>C (p.Thr1200=)
c.3609G>C (p.Thr1203=)
c.2619G>C (p.Thr873=)
1g.154584905C>TCA1130917ADARc.3476G>A (n.3476G>A)
c.3612G>A (p.Thr1204=)
c.3465G>A (p.Thr1155=)
c.3234G>A (p.Thr1078=)
c.2697G>A (p.Thr899=)
c.3582G>A (p.Thr1194=)
n.2375G>A
c.3504G>A (p.Thr1168=)
n.3567G>A
c.*1057G>A (n.*1057G>A)
n.4318G>A
c.*748G>A (n.*748G>A)
c.*1814G>A (n.*1814G>A)
n.4443G>A
c.2640G>A (p.Thr880=)
c.3399G>A (p.Thr1133=)
c.*3104G>A (n.*3104G>A)
n.3250G>A
c.*3182G>A (n.*3182G>A)
n.341G>A
c.3489G>A (p.Thr1163=)
c.3447G>A (p.Thr1149=)
c.3711G>A (p.Thr1237=)
c.3633G>A (p.Thr1211=)
c.3600G>A (p.Thr1200=)
c.3609G>A (p.Thr1203=)
c.2619G>A (p.Thr873=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584906G>ACA1130918ADARc.3475C>T (n.3475C>T)
c.3611C>T (p.Thr1204Met)
c.3464C>T (p.Thr1155Met)
c.3233C>T (p.Thr1078Met)
c.2696C>T (p.Thr899Met)
c.3581C>T (p.Thr1194Met)
n.2374C>T
c.3503C>T (p.Thr1168Met)
n.3566C>T
c.*1056C>T (n.*1056C>T)
n.4317C>T
c.*747C>T (n.*747C>T)
c.*1813C>T (n.*1813C>T)
n.4442C>T
c.2639C>T (p.Thr880Met)
c.3398C>T (p.Thr1133Met)
c.*3103C>T (n.*3103C>T)
n.3249C>T
c.*3181C>T (n.*3181C>T)
n.340C>T
c.3488C>T (p.Thr1163Met)
c.3446C>T (p.Thr1149Met)
c.3710C>T (p.Thr1237Met)
c.3632C>T (p.Thr1211Met)
c.3599C>T (p.Thr1200Met)
c.3608C>T (p.Thr1203Met)
c.2618C>T (p.Thr873Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584906G>CCA342634646ADARc.3475C>G (n.3475C>G)
c.3611C>G (p.Thr1204Arg)
c.3464C>G (p.Thr1155Arg)
c.3233C>G (p.Thr1078Arg)
c.2696C>G (p.Thr899Arg)
c.3581C>G (p.Thr1194Arg)
n.2374C>G
c.3503C>G (p.Thr1168Arg)
n.3566C>G
c.*1056C>G (n.*1056C>G)
n.4317C>G
c.*747C>G (n.*747C>G)
c.*1813C>G (n.*1813C>G)
n.4442C>G
c.2639C>G (p.Thr880Arg)
c.3398C>G (p.Thr1133Arg)
c.*3103C>G (n.*3103C>G)
n.3249C>G
c.*3181C>G (n.*3181C>G)
n.340C>G
c.3488C>G (p.Thr1163Arg)
c.3446C>G (p.Thr1149Arg)
c.3710C>G (p.Thr1237Arg)
c.3632C>G (p.Thr1211Arg)
c.3599C>G (p.Thr1200Arg)
c.3608C>G (p.Thr1203Arg)
c.2618C>G (p.Thr873Arg)
1g.154584906G=CA1143562032ADARc.3475C= (n.3475C=)
c.3611C= (p.Thr1204=)
c.3464C= (p.Thr1155=)
c.3233C= (p.Thr1078=)
c.2696C= (p.Thr899=)
c.3581C= (p.Thr1194=)
n.2374C=
c.3503C= (p.Thr1168=)
n.3566C=
c.*1056C= (n.*1056C=)
n.4317C=
c.*747C= (n.*747C=)
c.*1813C= (n.*1813C=)
n.4442C=
c.2639C= (p.Thr880=)
c.3398C= (p.Thr1133=)
c.*3103C= (n.*3103C=)
n.3249C=
c.*3181C= (n.*3181C=)
n.340C=
c.3488C= (p.Thr1163=)
c.3446C= (p.Thr1149=)
c.3710C= (p.Thr1237=)
c.3632C= (p.Thr1211=)
c.3599C= (p.Thr1200=)
c.3608C= (p.Thr1203=)
c.2618C= (p.Thr873=)
1g.154584906G>TCA342634647ADARc.3475C>A (n.3475C>A)
c.3611C>A (p.Thr1204Lys)
c.3464C>A (p.Thr1155Lys)
c.3233C>A (p.Thr1078Lys)
c.2696C>A (p.Thr899Lys)
c.3581C>A (p.Thr1194Lys)
n.2374C>A
c.3503C>A (p.Thr1168Lys)
n.3566C>A
c.*1056C>A (n.*1056C>A)
n.4317C>A
c.*747C>A (n.*747C>A)
c.*1813C>A (n.*1813C>A)
n.4442C>A
c.2639C>A (p.Thr880Lys)
c.3398C>A (p.Thr1133Lys)
c.*3103C>A (n.*3103C>A)
n.3249C>A
c.*3181C>A (n.*3181C>A)
n.340C>A
c.3488C>A (p.Thr1163Lys)
c.3446C>A (p.Thr1149Lys)
c.3710C>A (p.Thr1237Lys)
c.3632C>A (p.Thr1211Lys)
c.3599C>A (p.Thr1200Lys)
c.3608C>A (p.Thr1203Lys)
c.2618C>A (p.Thr873Lys)
1g.154584907T>ACA342634648ADARc.3474A>T (n.3474A>T)
c.3610A>T (p.Thr1204Ser)
c.3463A>T (p.Thr1155Ser)
c.3232A>T (p.Thr1078Ser)
c.2695A>T (p.Thr899Ser)
c.3580A>T (p.Thr1194Ser)
n.2373A>T
c.3502A>T (p.Thr1168Ser)
n.3565A>T
c.*1055A>T (n.*1055A>T)
n.4316A>T
c.*746A>T (n.*746A>T)
c.*1812A>T (n.*1812A>T)
n.4441A>T
c.2638A>T (p.Thr880Ser)
c.3397A>T (p.Thr1133Ser)
c.*3102A>T (n.*3102A>T)
n.3248A>T
c.*3180A>T (n.*3180A>T)
n.339A>T
c.3487A>T (p.Thr1163Ser)
c.3445A>T (p.Thr1149Ser)
c.3709A>T (p.Thr1237Ser)
c.3631A>T (p.Thr1211Ser)
c.3598A>T (p.Thr1200Ser)
c.3607A>T (p.Thr1203Ser)
c.2617A>T (p.Thr873Ser)
1g.154584907T>CCA342634649ADARc.3474A>G (n.3474A>G)
c.3610A>G (p.Thr1204Ala)
c.3463A>G (p.Thr1155Ala)
c.3232A>G (p.Thr1078Ala)
c.2695A>G (p.Thr899Ala)
c.3580A>G (p.Thr1194Ala)
n.2373A>G
c.3502A>G (p.Thr1168Ala)
n.3565A>G
c.*1055A>G (n.*1055A>G)
n.4316A>G
c.*746A>G (n.*746A>G)
c.*1812A>G (n.*1812A>G)
n.4441A>G
c.2638A>G (p.Thr880Ala)
c.3397A>G (p.Thr1133Ala)
c.*3102A>G (n.*3102A>G)
n.3248A>G
c.*3180A>G (n.*3180A>G)
n.339A>G
c.3487A>G (p.Thr1163Ala)
c.3445A>G (p.Thr1149Ala)
c.3709A>G (p.Thr1237Ala)
c.3631A>G (p.Thr1211Ala)
c.3598A>G (p.Thr1200Ala)
c.3607A>G (p.Thr1203Ala)
c.2617A>G (p.Thr873Ala)
 COSMIC COSMIC
1g.154584907T>GCA342634650ADARc.3474A>C (n.3474A>C)
c.3610A>C (p.Thr1204Pro)
c.3463A>C (p.Thr1155Pro)
c.3232A>C (p.Thr1078Pro)
c.2695A>C (p.Thr899Pro)
c.3580A>C (p.Thr1194Pro)
n.2373A>C
c.3502A>C (p.Thr1168Pro)
n.3565A>C
c.*1055A>C (n.*1055A>C)
n.4316A>C
c.*746A>C (n.*746A>C)
c.*1812A>C (n.*1812A>C)
n.4441A>C
c.2638A>C (p.Thr880Pro)
c.3397A>C (p.Thr1133Pro)
c.*3102A>C (n.*3102A>C)
n.3248A>C
c.*3180A>C (n.*3180A>C)
n.339A>C
c.3487A>C (p.Thr1163Pro)
c.3445A>C (p.Thr1149Pro)
c.3709A>C (p.Thr1237Pro)
c.3631A>C (p.Thr1211Pro)
c.3598A>C (p.Thr1200Pro)
c.3607A>C (p.Thr1203Pro)
c.2617A>C (p.Thr873Pro)
1g.154584908C>ACA342634651ADARc.3473G>T (n.3473G>T)
c.3609G>T (p.Glu1203Asp)
c.3462G>T (p.Glu1154Asp)
c.3231G>T (p.Glu1077Asp)
c.2694G>T (p.Glu898Asp)
c.3579G>T (p.Glu1193Asp)
n.2372G>T
c.3501G>T (p.Glu1167Asp)
n.3564G>T
c.*1054G>T (n.*1054G>T)
n.4315G>T
c.*745G>T (n.*745G>T)
c.*1811G>T (n.*1811G>T)
n.4440G>T
c.2637G>T (p.Glu879Asp)
c.3396G>T (p.Glu1132Asp)
c.*3101G>T (n.*3101G>T)
n.3247G>T
c.*3179G>T (n.*3179G>T)
n.338G>T
c.3486G>T (p.Glu1162Asp)
c.3444G>T (p.Glu1148Asp)
c.3708G>T (p.Glu1236Asp)
c.3630G>T (p.Glu1210Asp)
c.3597G>T (p.Glu1199Asp)
c.3606G>T (p.Glu1202Asp)
c.2616G>T (p.Glu872Asp)
 gnomAD v4
1g.154584908C>GCA342634652ADARc.3473G>C (n.3473G>C)
c.3609G>C (p.Glu1203Asp)
c.3462G>C (p.Glu1154Asp)
c.3231G>C (p.Glu1077Asp)
c.2694G>C (p.Glu898Asp)
c.3579G>C (p.Glu1193Asp)
n.2372G>C
c.3501G>C (p.Glu1167Asp)
n.3564G>C
c.*1054G>C (n.*1054G>C)
n.4315G>C
c.*745G>C (n.*745G>C)
c.*1811G>C (n.*1811G>C)
n.4440G>C
c.2637G>C (p.Glu879Asp)
c.3396G>C (p.Glu1132Asp)
c.*3101G>C (n.*3101G>C)
n.3247G>C
c.*3179G>C (n.*3179G>C)
n.338G>C
c.3486G>C (p.Glu1162Asp)
c.3444G>C (p.Glu1148Asp)
c.3708G>C (p.Glu1236Asp)
c.3630G>C (p.Glu1210Asp)
c.3597G>C (p.Glu1199Asp)
c.3606G>C (p.Glu1202Asp)
c.2616G>C (p.Glu872Asp)
1g.154584908C>TCA421231445ADARc.3473G>A (n.3473G>A)
c.3609G>A (p.Glu1203=)
c.3462G>A (p.Glu1154=)
c.3231G>A (p.Glu1077=)
c.2694G>A (p.Glu898=)
c.3579G>A (p.Glu1193=)
n.2372G>A
c.3501G>A (p.Glu1167=)
n.3564G>A
c.*1054G>A (n.*1054G>A)
n.4315G>A
c.*745G>A (n.*745G>A)
c.*1811G>A (n.*1811G>A)
n.4440G>A
c.2637G>A (p.Glu879=)
c.3396G>A (p.Glu1132=)
c.*3101G>A (n.*3101G>A)
n.3247G>A
c.*3179G>A (n.*3179G>A)
n.338G>A
c.3486G>A (p.Glu1162=)
c.3444G>A (p.Glu1148=)
c.3708G>A (p.Glu1236=)
c.3630G>A (p.Glu1210=)
c.3597G>A (p.Glu1199=)
c.3606G>A (p.Glu1202=)
c.2616G>A (p.Glu872=)
1g.154584909T>ACA342634653ADARc.3472A>T (n.3472A>T)
c.3608A>T (p.Glu1203Val)
c.3461A>T (p.Glu1154Val)
c.3230A>T (p.Glu1077Val)
c.2693A>T (p.Glu898Val)
c.3578A>T (p.Glu1193Val)
n.2371A>T
c.3500A>T (p.Glu1167Val)
n.3563A>T
c.*1053A>T (n.*1053A>T)
n.4314A>T
c.*744A>T (n.*744A>T)
c.*1810A>T (n.*1810A>T)
n.4439A>T
c.2636A>T (p.Glu879Val)
c.3395A>T (p.Glu1132Val)
c.*3100A>T (n.*3100A>T)
n.3246A>T
c.*3178A>T (n.*3178A>T)
n.337A>T
c.3485A>T (p.Glu1162Val)
c.3443A>T (p.Glu1148Val)
c.3707A>T (p.Glu1236Val)
c.3629A>T (p.Glu1210Val)
c.3596A>T (p.Glu1199Val)
c.3605A>T (p.Glu1202Val)
c.2615A>T (p.Glu872Val)
1g.154584909T>CCA342634654ADARc.3472A>G (n.3472A>G)
c.3608A>G (p.Glu1203Gly)
c.3461A>G (p.Glu1154Gly)
c.3230A>G (p.Glu1077Gly)
c.2693A>G (p.Glu898Gly)
c.3578A>G (p.Glu1193Gly)
n.2371A>G
c.3500A>G (p.Glu1167Gly)
n.3563A>G
c.*1053A>G (n.*1053A>G)
n.4314A>G
c.*744A>G (n.*744A>G)
c.*1810A>G (n.*1810A>G)
n.4439A>G
c.2636A>G (p.Glu879Gly)
c.3395A>G (p.Glu1132Gly)
c.*3100A>G (n.*3100A>G)
n.3246A>G
c.*3178A>G (n.*3178A>G)
n.337A>G
c.3485A>G (p.Glu1162Gly)
c.3443A>G (p.Glu1148Gly)
c.3707A>G (p.Glu1236Gly)
c.3629A>G (p.Glu1210Gly)
c.3596A>G (p.Glu1199Gly)
c.3605A>G (p.Glu1202Gly)
c.2615A>G (p.Glu872Gly)
1g.154584909T>GCA342634655ADARc.3472A>C (n.3472A>C)
c.3608A>C (p.Glu1203Ala)
c.3461A>C (p.Glu1154Ala)
c.3230A>C (p.Glu1077Ala)
c.2693A>C (p.Glu898Ala)
c.3578A>C (p.Glu1193Ala)
n.2371A>C
c.3500A>C (p.Glu1167Ala)
n.3563A>C
c.*1053A>C (n.*1053A>C)
n.4314A>C
c.*744A>C (n.*744A>C)
c.*1810A>C (n.*1810A>C)
n.4439A>C
c.2636A>C (p.Glu879Ala)
c.3395A>C (p.Glu1132Ala)
c.*3100A>C (n.*3100A>C)
n.3246A>C
c.*3178A>C (n.*3178A>C)
n.337A>C
c.3485A>C (p.Glu1162Ala)
c.3443A>C (p.Glu1148Ala)
c.3707A>C (p.Glu1236Ala)
c.3629A>C (p.Glu1210Ala)
c.3596A>C (p.Glu1199Ala)
c.3605A>C (p.Glu1202Ala)
c.2615A>C (p.Glu872Ala)
1g.154584910C>ACA342634657ADARc.3471G>T (n.3471G>T)
c.3607G>T (p.Glu1203Ter)
c.3460G>T (p.Glu1154Ter)
c.3229G>T (p.Glu1077Ter)
c.2692G>T (p.Glu898Ter)
c.3577G>T (p.Glu1193Ter)
n.2370G>T
c.3499G>T (p.Glu1167Ter)
n.3562G>T
c.*1052G>T (n.*1052G>T)
n.4313G>T
c.*743G>T (n.*743G>T)
c.*1809G>T (n.*1809G>T)
n.4438G>T
c.2635G>T (p.Glu879Ter)
c.3394G>T (p.Glu1132Ter)
c.*3099G>T (n.*3099G>T)
n.3245G>T
c.*3177G>T (n.*3177G>T)
n.336G>T
c.3484G>T (p.Glu1162Ter)
c.3442G>T (p.Glu1148Ter)
c.3706G>T (p.Glu1236Ter)
c.3628G>T (p.Glu1210Ter)
c.3595G>T (p.Glu1199Ter)
c.3604G>T (p.Glu1202Ter)
c.2614G>T (p.Glu872Ter)
1g.154584910C=CA2480931197ADARc.3471G= (n.3471G=)
c.3607G= (p.Glu1203=)
c.3460G= (p.Glu1154=)
c.3229G= (p.Glu1077=)
c.2692G= (p.Glu898=)
c.3577G= (p.Glu1193=)
n.2370G=
c.3499G= (p.Glu1167=)
n.3562G=
c.*1052G= (n.*1052G=)
n.4313G=
c.*743G= (n.*743G=)
c.*1809G= (n.*1809G=)
n.4438G=
c.2635G= (p.Glu879=)
c.3394G= (p.Glu1132=)
c.*3099G= (n.*3099G=)
n.3245G=
c.*3177G= (n.*3177G=)
n.336G=
c.3484G= (p.Glu1162=)
c.3442G= (p.Glu1148=)
c.3706G= (p.Glu1236=)
c.3628G= (p.Glu1210=)
c.3595G= (p.Glu1199=)
c.3604G= (p.Glu1202=)
c.2614G= (p.Glu872=)
1g.154584910C>GCA342634656ADARc.3471G>C (n.3471G>C)
c.3607G>C (p.Glu1203Gln)
c.3460G>C (p.Glu1154Gln)
c.3229G>C (p.Glu1077Gln)
c.2692G>C (p.Glu898Gln)
c.3577G>C (p.Glu1193Gln)
n.2370G>C
c.3499G>C (p.Glu1167Gln)
n.3562G>C
c.*1052G>C (n.*1052G>C)
n.4313G>C
c.*743G>C (n.*743G>C)
c.*1809G>C (n.*1809G>C)
n.4438G>C
c.2635G>C (p.Glu879Gln)
c.3394G>C (p.Glu1132Gln)
c.*3099G>C (n.*3099G>C)
n.3245G>C
c.*3177G>C (n.*3177G>C)
n.336G>C
c.3484G>C (p.Glu1162Gln)
c.3442G>C (p.Glu1148Gln)
c.3706G>C (p.Glu1236Gln)
c.3628G>C (p.Glu1210Gln)
c.3595G>C (p.Glu1199Gln)
c.3604G>C (p.Glu1202Gln)
c.2614G>C (p.Glu872Gln)
1g.154584910C>TCA16616992ADARc.3471G>A (n.3471G>A)
c.3607G>A (p.Glu1203Lys)
c.3460G>A (p.Glu1154Lys)
c.3229G>A (p.Glu1077Lys)
c.2692G>A (p.Glu898Lys)
c.3577G>A (p.Glu1193Lys)
n.2370G>A
c.3499G>A (p.Glu1167Lys)
n.3562G>A
c.*1052G>A (n.*1052G>A)
n.4313G>A
c.*743G>A (n.*743G>A)
c.*1809G>A (n.*1809G>A)
n.4438G>A
c.2635G>A (p.Glu879Lys)
c.3394G>A (p.Glu1132Lys)
c.*3099G>A (n.*3099G>A)
n.3245G>A
c.*3177G>A (n.*3177G>A)
n.336G>A
c.3484G>A (p.Glu1162Lys)
c.3442G>A (p.Glu1148Lys)
c.3706G>A (p.Glu1236Lys)
c.3628G>A (p.Glu1210Lys)
c.3595G>A (p.Glu1199Lys)
c.3604G>A (p.Glu1202Lys)
c.2614G>A (p.Glu872Lys)
 ClinVar dbSNP gnomAD v4
1g.154584911G>ACA1130919ADARc.3470C>T (n.3470C>T)
c.3606C>T (p.Tyr1202=)
c.3459C>T (p.Tyr1153=)
c.3228C>T (p.Tyr1076=)
c.2691C>T (p.Tyr897=)
c.3576C>T (p.Tyr1192=)
n.2369C>T
c.3498C>T (p.Tyr1166=)
n.3561C>T
c.*1051C>T (n.*1051C>T)
n.4312C>T
c.*742C>T (n.*742C>T)
c.*1808C>T (n.*1808C>T)
n.4437C>T
c.2634C>T (p.Tyr878=)
c.3393C>T (p.Tyr1131=)
c.*3098C>T (n.*3098C>T)
n.3244C>T
c.*3176C>T (n.*3176C>T)
n.335C>T
c.3483C>T (p.Tyr1161=)
c.3441C>T (p.Tyr1147=)
c.3705C>T (p.Tyr1235=)
c.3627C>T (p.Tyr1209=)
c.3594C>T (p.Tyr1198=)
c.3603C>T (p.Tyr1201=)
c.2613C>T (p.Tyr871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154584911G>CCA342634658ADARc.3470C>G (n.3470C>G)
c.3606C>G (p.Tyr1202Ter)
c.3459C>G (p.Tyr1153Ter)
c.3228C>G (p.Tyr1076Ter)
c.2691C>G (p.Tyr897Ter)
c.3576C>G (p.Tyr1192Ter)
n.2369C>G
c.3498C>G (p.Tyr1166Ter)
n.3561C>G
c.*1051C>G (n.*1051C>G)
n.4312C>G
c.*742C>G (n.*742C>G)
c.*1808C>G (n.*1808C>G)
n.4437C>G
c.2634C>G (p.Tyr878Ter)
c.3393C>G (p.Tyr1131Ter)
c.*3098C>G (n.*3098C>G)
n.3244C>G
c.*3176C>G (n.*3176C>G)
n.335C>G
c.3483C>G (p.Tyr1161Ter)
c.3441C>G (p.Tyr1147Ter)
c.3705C>G (p.Tyr1235Ter)
c.3627C>G (p.Tyr1209Ter)
c.3594C>G (p.Tyr1198Ter)
c.3603C>G (p.Tyr1201Ter)
c.2613C>G (p.Tyr871Ter)
1g.154584911G=CA2480931198ADARc.3470C= (n.3470C=)
c.3606C= (p.Tyr1202=)
c.3459C= (p.Tyr1153=)
c.3228C= (p.Tyr1076=)
c.2691C= (p.Tyr897=)
c.3576C= (p.Tyr1192=)
n.2369C=
c.3498C= (p.Tyr1166=)
n.3561C=
c.*1051C= (n.*1051C=)
n.4312C=
c.*742C= (n.*742C=)
c.*1808C= (n.*1808C=)
n.4437C=
c.2634C= (p.Tyr878=)
c.3393C= (p.Tyr1131=)
c.*3098C= (n.*3098C=)
n.3244C=
c.*3176C= (n.*3176C=)
n.335C=
c.3483C= (p.Tyr1161=)
c.3441C= (p.Tyr1147=)
c.3705C= (p.Tyr1235=)
c.3627C= (p.Tyr1209=)
c.3594C= (p.Tyr1198=)
c.3603C= (p.Tyr1201=)
c.2613C= (p.Tyr871=)
1g.154584911G>TCA342634659ADARc.3470C>A (n.3470C>A)
c.3606C>A (p.Tyr1202Ter)
c.3459C>A (p.Tyr1153Ter)
c.3228C>A (p.Tyr1076Ter)
c.2691C>A (p.Tyr897Ter)
c.3576C>A (p.Tyr1192Ter)
n.2369C>A
c.3498C>A (p.Tyr1166Ter)
n.3561C>A
c.*1051C>A (n.*1051C>A)
n.4312C>A
c.*742C>A (n.*742C>A)
c.*1808C>A (n.*1808C>A)
n.4437C>A
c.2634C>A (p.Tyr878Ter)
c.3393C>A (p.Tyr1131Ter)
c.*3098C>A (n.*3098C>A)
n.3244C>A
c.*3176C>A (n.*3176C>A)
n.335C>A
c.3483C>A (p.Tyr1161Ter)
c.3441C>A (p.Tyr1147Ter)
c.3705C>A (p.Tyr1235Ter)
c.3627C>A (p.Tyr1209Ter)
c.3594C>A (p.Tyr1198Ter)
c.3603C>A (p.Tyr1201Ter)
c.2613C>A (p.Tyr871Ter)
1g.154584912T>ACA342634660ADARc.3469A>T (n.3469A>T)
c.3605A>T (p.Tyr1202Phe)
c.3458A>T (p.Tyr1153Phe)
c.3227A>T (p.Tyr1076Phe)
c.2690A>T (p.Tyr897Phe)
c.3575A>T (p.Tyr1192Phe)
n.2368A>T
c.3497A>T (p.Tyr1166Phe)
n.3560A>T
c.*1050A>T (n.*1050A>T)
n.4311A>T
c.*741A>T (n.*741A>T)
c.*1807A>T (n.*1807A>T)
n.4436A>T
c.2633A>T (p.Tyr878Phe)
c.3392A>T (p.Tyr1131Phe)
c.*3097A>T (n.*3097A>T)
n.3243A>T
c.*3175A>T (n.*3175A>T)
n.334A>T
c.3482A>T (p.Tyr1161Phe)
c.3440A>T (p.Tyr1147Phe)
c.3704A>T (p.Tyr1235Phe)
c.3626A>T (p.Tyr1209Phe)
c.3593A>T (p.Tyr1198Phe)
c.3602A>T (p.Tyr1201Phe)
c.2612A>T (p.Tyr871Phe)
1g.154584912T>CCA342634661ADARc.3469A>G (n.3469A>G)
c.3605A>G (p.Tyr1202Cys)
c.3458A>G (p.Tyr1153Cys)
c.3227A>G (p.Tyr1076Cys)
c.2690A>G (p.Tyr897Cys)
c.3575A>G (p.Tyr1192Cys)
n.2368A>G
c.3497A>G (p.Tyr1166Cys)
n.3560A>G
c.*1050A>G (n.*1050A>G)
n.4311A>G
c.*741A>G (n.*741A>G)
c.*1807A>G (n.*1807A>G)
n.4436A>G
c.2633A>G (p.Tyr878Cys)
c.3392A>G (p.Tyr1131Cys)
c.*3097A>G (n.*3097A>G)
n.3243A>G
c.*3175A>G (n.*3175A>G)
n.334A>G
c.3482A>G (p.Tyr1161Cys)
c.3440A>G (p.Tyr1147Cys)
c.3704A>G (p.Tyr1235Cys)
c.3626A>G (p.Tyr1209Cys)
c.3593A>G (p.Tyr1198Cys)
c.3602A>G (p.Tyr1201Cys)
c.2612A>G (p.Tyr871Cys)
 gnomAD v4
1g.154584912T>GCA342634662ADARc.3469A>C (n.3469A>C)
c.3605A>C (p.Tyr1202Ser)
c.3458A>C (p.Tyr1153Ser)
c.3227A>C (p.Tyr1076Ser)
c.2690A>C (p.Tyr897Ser)
c.3575A>C (p.Tyr1192Ser)
n.2368A>C
c.3497A>C (p.Tyr1166Ser)
n.3560A>C
c.*1050A>C (n.*1050A>C)
n.4311A>C
c.*741A>C (n.*741A>C)
c.*1807A>C (n.*1807A>C)
n.4436A>C
c.2633A>C (p.Tyr878Ser)
c.3392A>C (p.Tyr1131Ser)
c.*3097A>C (n.*3097A>C)
n.3243A>C
c.*3175A>C (n.*3175A>C)
n.334A>C
c.3482A>C (p.Tyr1161Ser)
c.3440A>C (p.Tyr1147Ser)
c.3704A>C (p.Tyr1235Ser)
c.3626A>C (p.Tyr1209Ser)
c.3593A>C (p.Tyr1198Ser)
c.3602A>C (p.Tyr1201Ser)
c.2612A>C (p.Tyr871Ser)
1g.154584913A>CCA342634663ADARc.3468T>G (n.3468T>G)
c.3604T>G (p.Tyr1202Asp)
c.3457T>G (p.Tyr1153Asp)
c.3226T>G (p.Tyr1076Asp)
c.2689T>G (p.Tyr897Asp)
c.3574T>G (p.Tyr1192Asp)
n.2367T>G
c.3496T>G (p.Tyr1166Asp)
n.3559T>G
c.*1049T>G (n.*1049T>G)
n.4310T>G
c.*740T>G (n.*740T>G)
c.*1806T>G (n.*1806T>G)
n.4435T>G
c.2632T>G (p.Tyr878Asp)
c.3391T>G (p.Tyr1131Asp)
c.*3096T>G (n.*3096T>G)
n.3242T>G
c.*3174T>G (n.*3174T>G)
n.333T>G
c.3481T>G (p.Tyr1161Asp)
c.3439T>G (p.Tyr1147Asp)
c.3703T>G (p.Tyr1235Asp)
c.3625T>G (p.Tyr1209Asp)
c.3592T>G (p.Tyr1198Asp)
c.3601T>G (p.Tyr1201Asp)
c.2611T>G (p.Tyr871Asp)
 ClinVar
1g.154584913A>GCA342634664ADARc.3468T>C (n.3468T>C)
c.3604T>C (p.Tyr1202His)
c.3457T>C (p.Tyr1153His)
c.3226T>C (p.Tyr1076His)
c.2689T>C (p.Tyr897His)
c.3574T>C (p.Tyr1192His)
n.2367T>C
c.3496T>C (p.Tyr1166His)
n.3559T>C
c.*1049T>C (n.*1049T>C)
n.4310T>C
c.*740T>C (n.*740T>C)
c.*1806T>C (n.*1806T>C)
n.4435T>C
c.2632T>C (p.Tyr878His)
c.3391T>C (p.Tyr1131His)
c.*3096T>C (n.*3096T>C)
n.3242T>C
c.*3174T>C (n.*3174T>C)
n.333T>C
c.3481T>C (p.Tyr1161His)
c.3439T>C (p.Tyr1147His)
c.3703T>C (p.Tyr1235His)
c.3625T>C (p.Tyr1209His)
c.3592T>C (p.Tyr1198His)
c.3601T>C (p.Tyr1201His)
c.2611T>C (p.Tyr871His)
1g.154584913A>TCA342634665ADARc.3468T>A (n.3468T>A)
c.3604T>A (p.Tyr1202Asn)
c.3457T>A (p.Tyr1153Asn)
c.3226T>A (p.Tyr1076Asn)
c.2689T>A (p.Tyr897Asn)
c.3574T>A (p.Tyr1192Asn)
n.2367T>A
c.3496T>A (p.Tyr1166Asn)
n.3559T>A
c.*1049T>A (n.*1049T>A)
n.4310T>A
c.*740T>A (n.*740T>A)
c.*1806T>A (n.*1806T>A)
n.4435T>A
c.2632T>A (p.Tyr878Asn)
c.3391T>A (p.Tyr1131Asn)
c.*3096T>A (n.*3096T>A)
n.3242T>A
c.*3174T>A (n.*3174T>A)
n.333T>A
c.3481T>A (p.Tyr1161Asn)
c.3439T>A (p.Tyr1147Asn)
c.3703T>A (p.Tyr1235Asn)
c.3625T>A (p.Tyr1209Asn)
c.3592T>A (p.Tyr1198Asn)
c.3601T>A (p.Tyr1201Asn)
c.2611T>A (p.Tyr871Asn)
1g.154584914G>ACA421231449ADARc.3467C>T (n.3467C>T)
c.3603C>T (p.Asp1201=)
c.3456C>T (p.Asp1152=)
c.3225C>T (p.Asp1075=)
c.2688C>T (p.Asp896=)
c.3573C>T (p.Asp1191=)
n.2366C>T
c.3495C>T (p.Asp1165=)
n.3558C>T
c.*1048C>T (n.*1048C>T)
n.4309C>T
c.*739C>T (n.*739C>T)
c.*1805C>T (n.*1805C>T)
n.4434C>T
c.2631C>T (p.Asp877=)
c.3390C>T (p.Asp1130=)
c.*3095C>T (n.*3095C>T)
n.3241C>T
c.*3173C>T (n.*3173C>T)
n.332C>T
c.3480C>T (p.Asp1160=)
c.3438C>T (p.Asp1146=)
c.3702C>T (p.Asp1234=)
c.3624C>T (p.Asp1208=)
c.3591C>T (p.Asp1197=)
c.3600C>T (p.Asp1200=)
c.2610C>T (p.Asp870=)
1g.154584914G>CCA342634666ADARc.3467C>G (n.3467C>G)
c.3603C>G (p.Asp1201Glu)
c.3456C>G (p.Asp1152Glu)
c.3225C>G (p.Asp1075Glu)
c.2688C>G (p.Asp896Glu)
c.3573C>G (p.Asp1191Glu)
n.2366C>G
c.3495C>G (p.Asp1165Glu)
n.3558C>G
c.*1048C>G (n.*1048C>G)
n.4309C>G
c.*739C>G (n.*739C>G)
c.*1805C>G (n.*1805C>G)
n.4434C>G
c.2631C>G (p.Asp877Glu)
c.3390C>G (p.Asp1130Glu)
c.*3095C>G (n.*3095C>G)
n.3241C>G
c.*3173C>G (n.*3173C>G)
n.332C>G
c.3480C>G (p.Asp1160Glu)
c.3438C>G (p.Asp1146Glu)
c.3702C>G (p.Asp1234Glu)
c.3624C>G (p.Asp1208Glu)
c.3591C>G (p.Asp1197Glu)
c.3600C>G (p.Asp1200Glu)
c.2610C>G (p.Asp870Glu)
1g.154584914G>TCA342634667ADARc.3467C>A (n.3467C>A)
c.3603C>A (p.Asp1201Glu)
c.3456C>A (p.Asp1152Glu)
c.3225C>A (p.Asp1075Glu)
c.2688C>A (p.Asp896Glu)
c.3573C>A (p.Asp1191Glu)
n.2366C>A
c.3495C>A (p.Asp1165Glu)
n.3558C>A
c.*1048C>A (n.*1048C>A)
n.4309C>A
c.*739C>A (n.*739C>A)
c.*1805C>A (n.*1805C>A)
n.4434C>A
c.2631C>A (p.Asp877Glu)
c.3390C>A (p.Asp1130Glu)
c.*3095C>A (n.*3095C>A)
n.3241C>A
c.*3173C>A (n.*3173C>A)
n.332C>A
c.3480C>A (p.Asp1160Glu)
c.3438C>A (p.Asp1146Glu)
c.3702C>A (p.Asp1234Glu)
c.3624C>A (p.Asp1208Glu)
c.3591C>A (p.Asp1197Glu)
c.3600C>A (p.Asp1200Glu)
c.2610C>A (p.Asp870Glu)
 dbSNP
1g.154584915T>ACA342634669ADARc.3466A>T (n.3466A>T)
c.3602A>T (p.Asp1201Val)
c.3455A>T (p.Asp1152Val)
c.3224A>T (p.Asp1075Val)
c.2687A>T (p.Asp896Val)
c.3572A>T (p.Asp1191Val)
n.2365A>T
c.3494A>T (p.Asp1165Val)
n.3557A>T
c.*1047A>T (n.*1047A>T)
n.4308A>T
c.*738A>T (n.*738A>T)
c.*1804A>T (n.*1804A>T)
n.4433A>T
c.2630A>T (p.Asp877Val)
c.3389A>T (p.Asp1130Val)
c.*3094A>T (n.*3094A>T)
n.3240A>T
c.*3172A>T (n.*3172A>T)
n.331A>T
c.3479A>T (p.Asp1160Val)
c.3437A>T (p.Asp1146Val)
c.3701A>T (p.Asp1234Val)
c.3623A>T (p.Asp1208Val)
c.3590A>T (p.Asp1197Val)
c.3599A>T (p.Asp1200Val)
c.2609A>T (p.Asp870Val)
1g.154584915T>CCA342634670ADARc.3466A>G (n.3466A>G)
c.3602A>G (p.Asp1201Gly)
c.3455A>G (p.Asp1152Gly)
c.3224A>G (p.Asp1075Gly)
c.2687A>G (p.Asp896Gly)
c.3572A>G (p.Asp1191Gly)
n.2365A>G
c.3494A>G (p.Asp1165Gly)
n.3557A>G
c.*1047A>G (n.*1047A>G)
n.4308A>G
c.*738A>G (n.*738A>G)
c.*1804A>G (n.*1804A>G)
n.4433A>G
c.2630A>G (p.Asp877Gly)
c.3389A>G (p.Asp1130Gly)
c.*3094A>G (n.*3094A>G)
n.3240A>G
c.*3172A>G (n.*3172A>G)
n.331A>G
c.3479A>G (p.Asp1160Gly)
c.3437A>G (p.Asp1146Gly)
c.3701A>G (p.Asp1234Gly)
c.3623A>G (p.Asp1208Gly)
c.3590A>G (p.Asp1197Gly)
c.3599A>G (p.Asp1200Gly)
c.2609A>G (p.Asp870Gly)
1g.154584915T>GCA342634668ADARc.3466A>C (n.3466A>C)
c.3602A>C (p.Asp1201Ala)
c.3455A>C (p.Asp1152Ala)
c.3224A>C (p.Asp1075Ala)
c.2687A>C (p.Asp896Ala)
c.3572A>C (p.Asp1191Ala)
n.2365A>C
c.3494A>C (p.Asp1165Ala)
n.3557A>C
c.*1047A>C (n.*1047A>C)
n.4308A>C
c.*738A>C (n.*738A>C)
c.*1804A>C (n.*1804A>C)
n.4433A>C
c.2630A>C (p.Asp877Ala)
c.3389A>C (p.Asp1130Ala)
c.*3094A>C (n.*3094A>C)
n.3240A>C
c.*3172A>C (n.*3172A>C)
n.331A>C
c.3479A>C (p.Asp1160Ala)
c.3437A>C (p.Asp1146Ala)
c.3701A>C (p.Asp1234Ala)
c.3623A>C (p.Asp1208Ala)
c.3590A>C (p.Asp1197Ala)
c.3599A>C (p.Asp1200Ala)
c.2609A>C (p.Asp870Ala)
1g.154584915_154584916insAACA2740187397ADARc.3465_3466insTT (n.3465_3466insTT)
c.3601_3602insTT (p.Asp1201ValfsTer14)
c.3454_3455insTT (p.Asp1152ValfsTer14)
c.3223_3224insTT (p.Asp1075ValfsTer14)
c.2686_2687insTT (p.Asp896ValfsTer14)
c.3571_3572insTT (p.Asp1191ValfsTer14)
n.2364_2365insTT
c.3493_3494insTT (p.Asp1165ValfsTer14)
n.3556_3557insTT
c.*1046_*1047insTT (n.*1046_*1047insTT)
n.4307_4308insTT
c.*737_*738insTT (n.*737_*738insTT)
c.*1803_*1804insTT (n.*1803_*1804insTT)
n.4432_4433insTT
c.2629_2630insTT (p.Asp877ValfsTer14)
c.3388_3389insTT (p.Asp1130ValfsTer14)
c.*3093_*3094insTT (n.*3093_*3094insTT)
n.3239_3240insTT
c.*3171_*3172insTT (n.*3171_*3172insTT)
n.330_331insTT
c.3478_3479insTT (p.Asp1160ValfsTer14)
c.3436_3437insTT (p.Asp1146ValfsTer14)
c.3700_3701insTT (p.Asp1234ValfsTer14)
c.3622_3623insTT (p.Asp1208ValfsTer14)
c.3589_3590insTT (p.Asp1197ValfsTer14)
c.3598_3599insTT (p.Asp1200ValfsTer14)
c.2608_2609insTT (p.Asp870ValfsTer14)
1g.154584916C>ACA342634671ADARc.3465G>T (n.3465G>T)
c.3601G>T (p.Asp1201Tyr)
c.3454G>T (p.Asp1152Tyr)
c.3223G>T (p.Asp1075Tyr)
c.2686G>T (p.Asp896Tyr)
c.3571G>T (p.Asp1191Tyr)
n.2364G>T
c.3493G>T (p.Asp1165Tyr)
n.3556G>T
c.*1046G>T (n.*1046G>T)
n.4307G>T
c.*737G>T (n.*737G>T)
c.*1803G>T (n.*1803G>T)
n.4432G>T
c.2629G>T (p.Asp877Tyr)
c.3388G>T (p.Asp1130Tyr)
c.*3093G>T (n.*3093G>T)
n.3239G>T
c.*3171G>T (n.*3171G>T)
n.330G>T
c.3478G>T (p.Asp1160Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3598G>T (p.Asp1200Tyr)
c.2608G>T (p.Asp870Tyr)
1g.154584916C=CA2480931199ADARc.3465G= (n.3465G=)
c.3601G= (p.Asp1201=)
c.3454G= (p.Asp1152=)
c.3223G= (p.Asp1075=)
c.2686G= (p.Asp896=)
c.3571G= (p.Asp1191=)
n.2364G=
c.3493G= (p.Asp1165=)
n.3556G=
c.*1046G= (n.*1046G=)
n.4307G=
c.*737G= (n.*737G=)
c.*1803G= (n.*1803G=)
n.4432G=
c.2629G= (p.Asp877=)
c.3388G= (p.Asp1130=)
c.*3093G= (n.*3093G=)
n.3239G=
c.*3171G= (n.*3171G=)
n.330G=
c.3478G= (p.Asp1160=)
c.3436G= (p.Asp1146=)
c.3700G= (p.Asp1234=)
c.3622G= (p.Asp1208=)
c.3589G= (p.Asp1197=)
c.3598G= (p.Asp1200=)
c.2608G= (p.Asp870=)
1g.154584916C>GCA342634672ADARc.3465G>C (n.3465G>C)
c.3601G>C (p.Asp1201His)
c.3454G>C (p.Asp1152His)
c.3223G>C (p.Asp1075His)
c.2686G>C (p.Asp896His)
c.3571G>C (p.Asp1191His)
n.2364G>C
c.3493G>C (p.Asp1165His)
n.3556G>C
c.*1046G>C (n.*1046G>C)
n.4307G>C
c.*737G>C (n.*737G>C)
c.*1803G>C (n.*1803G>C)
n.4432G>C
c.2629G>C (p.Asp877His)
c.3388G>C (p.Asp1130His)
c.*3093G>C (n.*3093G>C)
n.3239G>C
c.*3171G>C (n.*3171G>C)
n.330G>C
c.3478G>C (p.Asp1160His)
c.3436G>C (p.Asp1146His)
c.3700G>C (p.Asp1234His)
c.3622G>C (p.Asp1208His)
c.3589G>C (p.Asp1197His)
c.3598G>C (p.Asp1200His)
c.2608G>C (p.Asp870His)
 ClinVar dbSNP gnomAD v4
1g.154584916C>TCA342634673ADARc.3465G>A (n.3465G>A)
c.3601G>A (p.Asp1201Asn)
c.3454G>A (p.Asp1152Asn)
c.3223G>A (p.Asp1075Asn)
c.2686G>A (p.Asp896Asn)
c.3571G>A (p.Asp1191Asn)
n.2364G>A
c.3493G>A (p.Asp1165Asn)
n.3556G>A
c.*1046G>A (n.*1046G>A)
n.4307G>A
c.*737G>A (n.*737G>A)
c.*1803G>A (n.*1803G>A)
n.4432G>A
c.2629G>A (p.Asp877Asn)
c.3388G>A (p.Asp1130Asn)
c.*3093G>A (n.*3093G>A)
n.3239G>A
c.*3171G>A (n.*3171G>A)
n.330G>A
c.3478G>A (p.Asp1160Asn)
c.3436G>A (p.Asp1146Asn)
c.3700G>A (p.Asp1234Asn)
c.3622G>A (p.Asp1208Asn)
c.3589G>A (p.Asp1197Asn)
c.3598G>A (p.Asp1200Asn)
c.2608G>A (p.Asp870Asn)
1g.154584917A=CA2480931200ADARc.3464T= (n.3464T=)
c.3600T= (p.Arg1200=)
c.3453T= (p.Arg1151=)
c.3222T= (p.Arg1074=)
c.2685T= (p.Arg895=)
c.3570T= (p.Arg1190=)
n.2363T=
c.3492T= (p.Arg1164=)
n.3555T=
c.*1045T= (n.*1045T=)
n.4306T=
c.*736T= (n.*736T=)
c.*1802T= (n.*1802T=)
n.4431T=
c.2628T= (p.Arg876=)
c.3387T= (p.Arg1129=)
c.*3092T= (n.*3092T=)
n.3238T=
c.*3170T= (n.*3170T=)
n.329T=
c.3477T= (p.Arg1159=)
c.3435T= (p.Arg1145=)
c.3699T= (p.Arg1233=)
c.3621T= (p.Arg1207=)
c.3588T= (p.Arg1196=)
c.3597T= (p.Arg1199=)
c.2607T= (p.Arg869=)
1g.154584917A>CCA421231450ADARc.3464T>G (n.3464T>G)
c.3600T>G (p.Arg1200=)
c.3453T>G (p.Arg1151=)
c.3222T>G (p.Arg1074=)
c.2685T>G (p.Arg895=)
c.3570T>G (p.Arg1190=)
n.2363T>G
c.3492T>G (p.Arg1164=)
n.3555T>G
c.*1045T>G (n.*1045T>G)
n.4306T>G
c.*736T>G (n.*736T>G)
c.*1802T>G (n.*1802T>G)
n.4431T>G
c.2628T>G (p.Arg876=)
c.3387T>G (p.Arg1129=)
c.*3092T>G (n.*3092T>G)
n.3238T>G
c.*3170T>G (n.*3170T>G)
n.329T>G
c.3477T>G (p.Arg1159=)
c.3435T>G (p.Arg1145=)
c.3699T>G (p.Arg1233=)
c.3621T>G (p.Arg1207=)
c.3588T>G (p.Arg1196=)
c.3597T>G (p.Arg1199=)
c.2607T>G (p.Arg869=)
 dbSNP
1g.154584917A>GCA421231452ADARc.3464T>C (n.3464T>C)
c.3600T>C (p.Arg1200=)
c.3453T>C (p.Arg1151=)
c.3222T>C (p.Arg1074=)
c.2685T>C (p.Arg895=)
c.3570T>C (p.Arg1190=)
n.2363T>C
c.3492T>C (p.Arg1164=)
n.3555T>C
c.*1045T>C (n.*1045T>C)
n.4306T>C
c.*736T>C (n.*736T>C)
c.*1802T>C (n.*1802T>C)
n.4431T>C
c.2628T>C (p.Arg876=)
c.3387T>C (p.Arg1129=)
c.*3092T>C (n.*3092T>C)
n.3238T>C
c.*3170T>C (n.*3170T>C)
n.329T>C
c.3477T>C (p.Arg1159=)
c.3435T>C (p.Arg1145=)
c.3699T>C (p.Arg1233=)
c.3621T>C (p.Arg1207=)
c.3588T>C (p.Arg1196=)
c.3597T>C (p.Arg1199=)
c.2607T>C (p.Arg869=)
1g.154584917A>TCA421231451ADARc.3464T>A (n.3464T>A)
c.3600T>A (p.Arg1200=)
c.3453T>A (p.Arg1151=)
c.3222T>A (p.Arg1074=)
c.2685T>A (p.Arg895=)
c.3570T>A (p.Arg1190=)
n.2363T>A
c.3492T>A (p.Arg1164=)
n.3555T>A
c.*1045T>A (n.*1045T>A)
n.4306T>A
c.*736T>A (n.*736T>A)
c.*1802T>A (n.*1802T>A)
n.4431T>A
c.2628T>A (p.Arg876=)
c.3387T>A (p.Arg1129=)
c.*3092T>A (n.*3092T>A)
n.3238T>A
c.*3170T>A (n.*3170T>A)
n.329T>A
c.3477T>A (p.Arg1159=)
c.3435T>A (p.Arg1145=)
c.3699T>A (p.Arg1233=)
c.3621T>A (p.Arg1207=)
c.3588T>A (p.Arg1196=)
c.3597T>A (p.Arg1199=)
c.2607T>A (p.Arg869=)
1g.154584918C>ACA342634674ADARc.3463G>T (n.3463G>T)
c.3599G>T (p.Arg1200Leu)
c.3452G>T (p.Arg1151Leu)
c.3221G>T (p.Arg1074Leu)
c.2684G>T (p.Arg895Leu)
c.3569G>T (p.Arg1190Leu)
n.2362G>T
c.3491G>T (p.Arg1164Leu)
n.3554G>T
c.*1044G>T (n.*1044G>T)
n.4305G>T
c.*735G>T (n.*735G>T)
c.*1801G>T (n.*1801G>T)
n.4430G>T
c.2627G>T (p.Arg876Leu)
c.3386G>T (p.Arg1129Leu)
c.*3091G>T (n.*3091G>T)
n.3237G>T
c.*3169G>T (n.*3169G>T)
n.328G>T
c.3476G>T (p.Arg1159Leu)
c.3434G>T (p.Arg1145Leu)
c.3698G>T (p.Arg1233Leu)
c.3620G>T (p.Arg1207Leu)
c.3587G>T (p.Arg1196Leu)
c.3596G>T (p.Arg1199Leu)
c.2606G>T (p.Arg869Leu)
1g.154584918C=CA2480931201ADARc.3463G= (n.3463G=)
c.3599G= (p.Arg1200=)
c.3452G= (p.Arg1151=)
c.3221G= (p.Arg1074=)
c.2684G= (p.Arg895=)
c.3569G= (p.Arg1190=)
n.2362G=
c.3491G= (p.Arg1164=)
n.3554G=
c.*1044G= (n.*1044G=)
n.4305G=
c.*735G= (n.*735G=)
c.*1801G= (n.*1801G=)
n.4430G=
c.2627G= (p.Arg876=)
c.3386G= (p.Arg1129=)
c.*3091G= (n.*3091G=)
n.3237G=
c.*3169G= (n.*3169G=)
n.328G=
c.3476G= (p.Arg1159=)
c.3434G= (p.Arg1145=)
c.3698G= (p.Arg1233=)
c.3620G= (p.Arg1207=)
c.3587G= (p.Arg1196=)
c.3596G= (p.Arg1199=)
c.2606G= (p.Arg869=)
1g.154584918C>GCA342634675ADARc.3463G>C (n.3463G>C)
c.3599G>C (p.Arg1200Pro)
c.3452G>C (p.Arg1151Pro)
c.3221G>C (p.Arg1074Pro)
c.2684G>C (p.Arg895Pro)
c.3569G>C (p.Arg1190Pro)
n.2362G>C
c.3491G>C (p.Arg1164Pro)
n.3554G>C
c.*1044G>C (n.*1044G>C)
n.4305G>C
c.*735G>C (n.*735G>C)
c.*1801G>C (n.*1801G>C)
n.4430G>C
c.2627G>C (p.Arg876Pro)
c.3386G>C (p.Arg1129Pro)
c.*3091G>C (n.*3091G>C)
n.3237G>C
c.*3169G>C (n.*3169G>C)
n.328G>C
c.3476G>C (p.Arg1159Pro)
c.3434G>C (p.Arg1145Pro)
c.3698G>C (p.Arg1233Pro)
c.3620G>C (p.Arg1207Pro)
c.3587G>C (p.Arg1196Pro)
c.3596G>C (p.Arg1199Pro)
c.2606G>C (p.Arg869Pro)
1g.154584918C>TCA342634676ADARc.3463G>A (n.3463G>A)
c.3599G>A (p.Arg1200His)
c.3452G>A (p.Arg1151His)
c.3221G>A (p.Arg1074His)
c.2684G>A (p.Arg895His)
c.3569G>A (p.Arg1190His)
n.2362G>A
c.3491G>A (p.Arg1164His)
n.3554G>A
c.*1044G>A (n.*1044G>A)
n.4305G>A
c.*735G>A (n.*735G>A)
c.*1801G>A (n.*1801G>A)
n.4430G>A
c.2627G>A (p.Arg876His)
c.3386G>A (p.Arg1129His)
c.*3091G>A (n.*3091G>A)
n.3237G>A
c.*3169G>A (n.*3169G>A)
n.328G>A
c.3476G>A (p.Arg1159His)
c.3434G>A (p.Arg1145His)
c.3698G>A (p.Arg1233His)
c.3620G>A (p.Arg1207His)
c.3587G>A (p.Arg1196His)
c.3596G>A (p.Arg1199His)
c.2606G>A (p.Arg869His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154584919G>ACA30848594ADARc.3462C>T (n.3462C>T)
c.3598C>T (p.Arg1200Cys)
c.3451C>T (p.Arg1151Cys)
c.3220C>T (p.Arg1074Cys)
c.2683C>T (p.Arg895Cys)
c.3568C>T (p.Arg1190Cys)
n.2361C>T
c.3490C>T (p.Arg1164Cys)
n.3553C>T
c.*1043C>T (n.*1043C>T)
n.4304C>T
c.*734C>T (n.*734C>T)
c.*1800C>T (n.*1800C>T)
n.4429C>T
c.2626C>T (p.Arg876Cys)
c.3385C>T (p.Arg1129Cys)
c.*3090C>T (n.*3090C>T)
n.3236C>T
c.*3168C>T (n.*3168C>T)
n.327C>T
c.3475C>T (p.Arg1159Cys)
c.3433C>T (p.Arg1145Cys)
c.3697C>T (p.Arg1233Cys)
c.3619C>T (p.Arg1207Cys)
c.3586C>T (p.Arg1196Cys)
c.3595C>T (p.Arg1199Cys)
c.2605C>T (p.Arg869Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154584919G>CCA342634678ADARc.3462C>G (n.3462C>G)
c.3598C>G (p.Arg1200Gly)
c.3451C>G (p.Arg1151Gly)
c.3220C>G (p.Arg1074Gly)
c.2683C>G (p.Arg895Gly)
c.3568C>G (p.Arg1190Gly)
n.2361C>G
c.3490C>G (p.Arg1164Gly)
n.3553C>G
c.*1043C>G (n.*1043C>G)
n.4304C>G
c.*734C>G (n.*734C>G)
c.*1800C>G (n.*1800C>G)
n.4429C>G
c.2626C>G (p.Arg876Gly)
c.3385C>G (p.Arg1129Gly)
c.*3090C>G (n.*3090C>G)
n.3236C>G
c.*3168C>G (n.*3168C>G)
n.327C>G
c.3475C>G (p.Arg1159Gly)
c.3433C>G (p.Arg1145Gly)
c.3697C>G (p.Arg1233Gly)
c.3619C>G (p.Arg1207Gly)
c.3586C>G (p.Arg1196Gly)
c.3595C>G (p.Arg1199Gly)
c.2605C>G (p.Arg869Gly)
 ClinVar dbSNP gnomAD v4
1g.154584919G=CA2480931202ADARc.3462C= (n.3462C=)
c.3598C= (p.Arg1200=)
c.3451C= (p.Arg1151=)
c.3220C= (p.Arg1074=)
c.2683C= (p.Arg895=)
c.3568C= (p.Arg1190=)
n.2361C=
c.3490C= (p.Arg1164=)
n.3553C=
c.*1043C= (n.*1043C=)
n.4304C=
c.*734C= (n.*734C=)
c.*1800C= (n.*1800C=)
n.4429C=
c.2626C= (p.Arg876=)
c.3385C= (p.Arg1129=)
c.*3090C= (n.*3090C=)
n.3236C=
c.*3168C= (n.*3168C=)
n.327C=
c.3475C= (p.Arg1159=)
c.3433C= (p.Arg1145=)
c.3697C= (p.Arg1233=)
c.3619C= (p.Arg1207=)
c.3586C= (p.Arg1196=)
c.3595C= (p.Arg1199=)
c.2605C= (p.Arg869=)
1g.154584919G>TCA342634677ADARc.3462C>A (n.3462C>A)
c.3598C>A (p.Arg1200Ser)
c.3451C>A (p.Arg1151Ser)
c.3220C>A (p.Arg1074Ser)
c.2683C>A (p.Arg895Ser)
c.3568C>A (p.Arg1190Ser)
n.2361C>A
c.3490C>A (p.Arg1164Ser)
n.3553C>A
c.*1043C>A (n.*1043C>A)
n.4304C>A
c.*734C>A (n.*734C>A)
c.*1800C>A (n.*1800C>A)
n.4429C>A
c.2626C>A (p.Arg876Ser)
c.3385C>A (p.Arg1129Ser)
c.*3090C>A (n.*3090C>A)
n.3236C>A
c.*3168C>A (n.*3168C>A)
n.327C>A
c.3475C>A (p.Arg1159Ser)
c.3433C>A (p.Arg1145Ser)
c.3697C>A (p.Arg1233Ser)
c.3619C>A (p.Arg1207Ser)
c.3586C>A (p.Arg1196Ser)
c.3595C>A (p.Arg1199Ser)
c.2605C>A (p.Arg869Ser)
1g.154584920G>ACA1130920ADARc.3461C>T (n.3461C>T)
c.3597C>T (p.Ala1199=)
c.3450C>T (p.Ala1150=)
c.3219C>T (p.Ala1073=)
c.2682C>T (p.Ala894=)
c.3567C>T (p.Ala1189=)
n.2360C>T
c.3489C>T (p.Ala1163=)
n.3552C>T
c.*1042C>T (n.*1042C>T)
n.4303C>T
c.*733C>T (n.*733C>T)
c.*1799C>T (n.*1799C>T)
n.4428C>T
c.2625C>T (p.Ala875=)
c.3384C>T (p.Ala1128=)
c.*3089C>T (n.*3089C>T)
n.3235C>T
c.*3167C>T (n.*3167C>T)
n.326C>T
c.3474C>T (p.Ala1158=)
c.3432C>T (p.Ala1144=)
c.3696C>T (p.Ala1232=)
c.3618C>T (p.Ala1206=)
c.3585C>T (p.Ala1195=)
c.3594C>T (p.Ala1198=)
c.2604C>T (p.Ala868=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584920G>CCA421231454ADARc.3461C>G (n.3461C>G)
c.3597C>G (p.Ala1199=)
c.3450C>G (p.Ala1150=)
c.3219C>G (p.Ala1073=)
c.2682C>G (p.Ala894=)
c.3567C>G (p.Ala1189=)
n.2360C>G
c.3489C>G (p.Ala1163=)
n.3552C>G
c.*1042C>G (n.*1042C>G)
n.4303C>G
c.*733C>G (n.*733C>G)
c.*1799C>G (n.*1799C>G)
n.4428C>G
c.2625C>G (p.Ala875=)
c.3384C>G (p.Ala1128=)
c.*3089C>G (n.*3089C>G)
n.3235C>G
c.*3167C>G (n.*3167C>G)
n.326C>G
c.3474C>G (p.Ala1158=)
c.3432C>G (p.Ala1144=)
c.3696C>G (p.Ala1232=)
c.3618C>G (p.Ala1206=)
c.3585C>G (p.Ala1195=)
c.3594C>G (p.Ala1198=)
c.2604C>G (p.Ala868=)
 gnomAD v4
1g.154584920G=CA1143732040ADARc.3461C= (n.3461C=)
c.3597C= (p.Ala1199=)
c.3450C= (p.Ala1150=)
c.3219C= (p.Ala1073=)
c.2682C= (p.Ala894=)
c.3567C= (p.Ala1189=)
n.2360C=
c.3489C= (p.Ala1163=)
n.3552C=
c.*1042C= (n.*1042C=)
n.4303C=
c.*733C= (n.*733C=)
c.*1799C= (n.*1799C=)
n.4428C=
c.2625C= (p.Ala875=)
c.3384C= (p.Ala1128=)
c.*3089C= (n.*3089C=)
n.3235C=
c.*3167C= (n.*3167C=)
n.326C=
c.3474C= (p.Ala1158=)
c.3432C= (p.Ala1144=)
c.3696C= (p.Ala1232=)
c.3618C= (p.Ala1206=)
c.3585C= (p.Ala1195=)
c.3594C= (p.Ala1198=)
c.2604C= (p.Ala868=)
1g.154584920G>TCA421231455ADARc.3461C>A (n.3461C>A)
c.3597C>A (p.Ala1199=)
c.3450C>A (p.Ala1150=)
c.3219C>A (p.Ala1073=)
c.2682C>A (p.Ala894=)
c.3567C>A (p.Ala1189=)
n.2360C>A
c.3489C>A (p.Ala1163=)
n.3552C>A
c.*1042C>A (n.*1042C>A)
n.4303C>A
c.*733C>A (n.*733C>A)
c.*1799C>A (n.*1799C>A)
n.4428C>A
c.2625C>A (p.Ala875=)
c.3384C>A (p.Ala1128=)
c.*3089C>A (n.*3089C>A)
n.3235C>A
c.*3167C>A (n.*3167C>A)
n.326C>A
c.3474C>A (p.Ala1158=)
c.3432C>A (p.Ala1144=)
c.3696C>A (p.Ala1232=)
c.3618C>A (p.Ala1206=)
c.3585C>A (p.Ala1195=)
c.3594C>A (p.Ala1198=)
c.2604C>A (p.Ala868=)
1g.154584921G>ACA342634679ADARc.3460C>T (n.3460C>T)
c.3596C>T (p.Ala1199Val)
c.3449C>T (p.Ala1150Val)
c.3218C>T (p.Ala1073Val)
c.2681C>T (p.Ala894Val)
c.3566C>T (p.Ala1189Val)
n.2359C>T
c.3488C>T (p.Ala1163Val)
n.3551C>T
c.*1041C>T (n.*1041C>T)
n.4302C>T
c.*732C>T (n.*732C>T)
c.*1798C>T (n.*1798C>T)
n.4427C>T
c.2624C>T (p.Ala875Val)
c.3383C>T (p.Ala1128Val)
c.*3088C>T (n.*3088C>T)
n.3234C>T
c.*3166C>T (n.*3166C>T)
n.325C>T
c.3473C>T (p.Ala1158Val)
c.3431C>T (p.Ala1144Val)
c.3695C>T (p.Ala1232Val)
c.3617C>T (p.Ala1206Val)
c.3584C>T (p.Ala1195Val)
c.3593C>T (p.Ala1198Val)
c.2603C>T (p.Ala868Val)
 ClinVar
1g.154584921G>CCA342634680ADARc.3460C>G (n.3460C>G)
c.3596C>G (p.Ala1199Gly)
c.3449C>G (p.Ala1150Gly)
c.3218C>G (p.Ala1073Gly)
c.2681C>G (p.Ala894Gly)
c.3566C>G (p.Ala1189Gly)
n.2359C>G
c.3488C>G (p.Ala1163Gly)
n.3551C>G
c.*1041C>G (n.*1041C>G)
n.4302C>G
c.*732C>G (n.*732C>G)
c.*1798C>G (n.*1798C>G)
n.4427C>G
c.2624C>G (p.Ala875Gly)
c.3383C>G (p.Ala1128Gly)
c.*3088C>G (n.*3088C>G)
n.3234C>G
c.*3166C>G (n.*3166C>G)
n.325C>G
c.3473C>G (p.Ala1158Gly)
c.3431C>G (p.Ala1144Gly)
c.3695C>G (p.Ala1232Gly)
c.3617C>G (p.Ala1206Gly)
c.3584C>G (p.Ala1195Gly)
c.3593C>G (p.Ala1198Gly)
c.2603C>G (p.Ala868Gly)
1g.154584921G>TCA342634681ADARc.3460C>A (n.3460C>A)
c.3596C>A (p.Ala1199Asp)
c.3449C>A (p.Ala1150Asp)
c.3218C>A (p.Ala1073Asp)
c.2681C>A (p.Ala894Asp)
c.3566C>A (p.Ala1189Asp)
n.2359C>A
c.3488C>A (p.Ala1163Asp)
n.3551C>A
c.*1041C>A (n.*1041C>A)
n.4302C>A
c.*732C>A (n.*732C>A)
c.*1798C>A (n.*1798C>A)
n.4427C>A
c.2624C>A (p.Ala875Asp)
c.3383C>A (p.Ala1128Asp)
c.*3088C>A (n.*3088C>A)
n.3234C>A
c.*3166C>A (n.*3166C>A)
n.325C>A
c.3473C>A (p.Ala1158Asp)
c.3431C>A (p.Ala1144Asp)
c.3695C>A (p.Ala1232Asp)
c.3617C>A (p.Ala1206Asp)
c.3584C>A (p.Ala1195Asp)
c.3593C>A (p.Ala1198Asp)
c.2603C>A (p.Ala868Asp)
1g.154584922C>ACA342634682ADARc.3459G>T (n.3459G>T)
c.3595G>T (p.Ala1199Ser)
c.3448G>T (p.Ala1150Ser)
c.3217G>T (p.Ala1073Ser)
c.2680G>T (p.Ala894Ser)
c.3565G>T (p.Ala1189Ser)
n.2358G>T
c.3487G>T (p.Ala1163Ser)
n.3550G>T
c.*1040G>T (n.*1040G>T)
n.4301G>T
c.*731G>T (n.*731G>T)
c.*1797G>T (n.*1797G>T)
n.4426G>T
c.2623G>T (p.Ala875Ser)
c.3382G>T (p.Ala1128Ser)
c.*3087G>T (n.*3087G>T)
n.3233G>T
c.*3165G>T (n.*3165G>T)
n.324G>T
c.3472G>T (p.Ala1158Ser)
c.3430G>T (p.Ala1144Ser)
c.3694G>T (p.Ala1232Ser)
c.3616G>T (p.Ala1206Ser)
c.3583G>T (p.Ala1195Ser)
c.3592G>T (p.Ala1198Ser)
c.2602G>T (p.Ala868Ser)
1g.154584922C>GCA342634684ADARc.3459G>C (n.3459G>C)
c.3595G>C (p.Ala1199Pro)
c.3448G>C (p.Ala1150Pro)
c.3217G>C (p.Ala1073Pro)
c.2680G>C (p.Ala894Pro)
c.3565G>C (p.Ala1189Pro)
n.2358G>C
c.3487G>C (p.Ala1163Pro)
n.3550G>C
c.*1040G>C (n.*1040G>C)
n.4301G>C
c.*731G>C (n.*731G>C)
c.*1797G>C (n.*1797G>C)
n.4426G>C
c.2623G>C (p.Ala875Pro)
c.3382G>C (p.Ala1128Pro)
c.*3087G>C (n.*3087G>C)
n.3233G>C
c.*3165G>C (n.*3165G>C)
n.324G>C
c.3472G>C (p.Ala1158Pro)
c.3430G>C (p.Ala1144Pro)
c.3694G>C (p.Ala1232Pro)
c.3616G>C (p.Ala1206Pro)
c.3583G>C (p.Ala1195Pro)
c.3592G>C (p.Ala1198Pro)
c.2602G>C (p.Ala868Pro)
1g.154584922C>TCA342634683ADARc.3459G>A (n.3459G>A)
c.3595G>A (p.Ala1199Thr)
c.3448G>A (p.Ala1150Thr)
c.3217G>A (p.Ala1073Thr)
c.2680G>A (p.Ala894Thr)
c.3565G>A (p.Ala1189Thr)
n.2358G>A
c.3487G>A (p.Ala1163Thr)
n.3550G>A
c.*1040G>A (n.*1040G>A)
n.4301G>A
c.*731G>A (n.*731G>A)
c.*1797G>A (n.*1797G>A)
n.4426G>A
c.2623G>A (p.Ala875Thr)
c.3382G>A (p.Ala1128Thr)
c.*3087G>A (n.*3087G>A)
n.3233G>A
c.*3165G>A (n.*3165G>A)
n.324G>A
c.3472G>A (p.Ala1158Thr)
c.3430G>A (p.Ala1144Thr)
c.3694G>A (p.Ala1232Thr)
c.3616G>A (p.Ala1206Thr)
c.3583G>A (p.Ala1195Thr)
c.3592G>A (p.Ala1198Thr)
c.2602G>A (p.Ala868Thr)
1g.154584923A>CCA421231459ADARc.3458T>G (n.3458T>G)
c.3594T>G (p.Ala1198=)
c.3447T>G (p.Ala1149=)
c.3216T>G (p.Ala1072=)
c.2679T>G (p.Ala893=)
c.3564T>G (p.Ala1188=)
n.2357T>G
c.3486T>G (p.Ala1162=)
n.3549T>G
c.*1039T>G (n.*1039T>G)
n.4300T>G
c.*730T>G (n.*730T>G)
c.*1796T>G (n.*1796T>G)
n.4425T>G
c.2622T>G (p.Ala874=)
c.3381T>G (p.Ala1127=)
c.*3086T>G (n.*3086T>G)
n.3232T>G
c.*3164T>G (n.*3164T>G)
n.323T>G
c.3471T>G (p.Ala1157=)
c.3429T>G (p.Ala1143=)
c.3693T>G (p.Ala1231=)
c.3615T>G (p.Ala1205=)
c.3582T>G (p.Ala1194=)
c.3591T>G (p.Ala1197=)
c.2601T>G (p.Ala867=)
1g.154584923A>GCA421231460ADARc.3458T>C (n.3458T>C)
c.3594T>C (p.Ala1198=)
c.3447T>C (p.Ala1149=)
c.3216T>C (p.Ala1072=)
c.2679T>C (p.Ala893=)
c.3564T>C (p.Ala1188=)
n.2357T>C
c.3486T>C (p.Ala1162=)
n.3549T>C
c.*1039T>C (n.*1039T>C)
n.4300T>C
c.*730T>C (n.*730T>C)
c.*1796T>C (n.*1796T>C)
n.4425T>C
c.2622T>C (p.Ala874=)
c.3381T>C (p.Ala1127=)
c.*3086T>C (n.*3086T>C)
n.3232T>C
c.*3164T>C (n.*3164T>C)
n.323T>C
c.3471T>C (p.Ala1157=)
c.3429T>C (p.Ala1143=)
c.3693T>C (p.Ala1231=)
c.3615T>C (p.Ala1205=)
c.3582T>C (p.Ala1194=)
c.3591T>C (p.Ala1197=)
c.2601T>C (p.Ala867=)
 ClinVar
1g.154584923A>TCA421231461ADARc.3458T>A (n.3458T>A)
c.3594T>A (p.Ala1198=)
c.3447T>A (p.Ala1149=)
c.3216T>A (p.Ala1072=)
c.2679T>A (p.Ala893=)
c.3564T>A (p.Ala1188=)
n.2357T>A
c.3486T>A (p.Ala1162=)
n.3549T>A
c.*1039T>A (n.*1039T>A)
n.4300T>A
c.*730T>A (n.*730T>A)
c.*1796T>A (n.*1796T>A)
n.4425T>A
c.2622T>A (p.Ala874=)
c.3381T>A (p.Ala1127=)
c.*3086T>A (n.*3086T>A)
n.3232T>A
c.*3164T>A (n.*3164T>A)
n.323T>A
c.3471T>A (p.Ala1157=)
c.3429T>A (p.Ala1143=)
c.3693T>A (p.Ala1231=)
c.3615T>A (p.Ala1205=)
c.3582T>A (p.Ala1194=)
c.3591T>A (p.Ala1197=)
c.2601T>A (p.Ala867=)
1g.154584924G>ACA342634685ADARc.3457C>T (n.3457C>T)
c.3593C>T (p.Ala1198Val)
c.3446C>T (p.Ala1149Val)
c.3215C>T (p.Ala1072Val)
c.2678C>T (p.Ala893Val)
c.3563C>T (p.Ala1188Val)
n.2356C>T
c.3485C>T (p.Ala1162Val)
n.3548C>T
c.*1038C>T (n.*1038C>T)
n.4299C>T
c.*729C>T (n.*729C>T)
c.*1795C>T (n.*1795C>T)
n.4424C>T
c.2621C>T (p.Ala874Val)
c.3380C>T (p.Ala1127Val)
c.*3085C>T (n.*3085C>T)
n.3231C>T
c.*3163C>T (n.*3163C>T)
n.322C>T
c.3470C>T (p.Ala1157Val)
c.3428C>T (p.Ala1143Val)
c.3692C>T (p.Ala1231Val)
c.3614C>T (p.Ala1205Val)
c.3581C>T (p.Ala1194Val)
c.3590C>T (p.Ala1197Val)
c.2600C>T (p.Ala867Val)
 gnomAD v4
1g.154584924G>CCA342634686ADARc.3457C>G (n.3457C>G)
c.3593C>G (p.Ala1198Gly)
c.3446C>G (p.Ala1149Gly)
c.3215C>G (p.Ala1072Gly)
c.2678C>G (p.Ala893Gly)
c.3563C>G (p.Ala1188Gly)
n.2356C>G
c.3485C>G (p.Ala1162Gly)
n.3548C>G
c.*1038C>G (n.*1038C>G)
n.4299C>G
c.*729C>G (n.*729C>G)
c.*1795C>G (n.*1795C>G)
n.4424C>G
c.2621C>G (p.Ala874Gly)
c.3380C>G (p.Ala1127Gly)
c.*3085C>G (n.*3085C>G)
n.3231C>G
c.*3163C>G (n.*3163C>G)
n.322C>G
c.3470C>G (p.Ala1157Gly)
c.3428C>G (p.Ala1143Gly)
c.3692C>G (p.Ala1231Gly)
c.3614C>G (p.Ala1205Gly)
c.3581C>G (p.Ala1194Gly)
c.3590C>G (p.Ala1197Gly)
c.2600C>G (p.Ala867Gly)
1g.154584924G>TCA342634687ADARc.3457C>A (n.3457C>A)
c.3593C>A (p.Ala1198Asp)
c.3446C>A (p.Ala1149Asp)
c.3215C>A (p.Ala1072Asp)
c.2678C>A (p.Ala893Asp)
c.3563C>A (p.Ala1188Asp)
n.2356C>A
c.3485C>A (p.Ala1162Asp)
n.3548C>A
c.*1038C>A (n.*1038C>A)
n.4299C>A
c.*729C>A (n.*729C>A)
c.*1795C>A (n.*1795C>A)
n.4424C>A
c.2621C>A (p.Ala874Asp)
c.3380C>A (p.Ala1127Asp)
c.*3085C>A (n.*3085C>A)
n.3231C>A
c.*3163C>A (n.*3163C>A)
n.322C>A
c.3470C>A (p.Ala1157Asp)
c.3428C>A (p.Ala1143Asp)
c.3692C>A (p.Ala1231Asp)
c.3614C>A (p.Ala1205Asp)
c.3581C>A (p.Ala1194Asp)
c.3590C>A (p.Ala1197Asp)
c.2600C>A (p.Ala867Asp)
1g.154584925C>ACA342634688ADARc.3456G>T (n.3456G>T)
c.3592G>T (p.Ala1198Ser)
c.3445G>T (p.Ala1149Ser)
c.3214G>T (p.Ala1072Ser)
c.2677G>T (p.Ala893Ser)
c.3562G>T (p.Ala1188Ser)
n.2355G>T
c.3484G>T (p.Ala1162Ser)
n.3547G>T
c.*1037G>T (n.*1037G>T)
n.4298G>T
c.*728G>T (n.*728G>T)
c.*1794G>T (n.*1794G>T)
n.4423G>T
c.2620G>T (p.Ala874Ser)
c.3379G>T (p.Ala1127Ser)
c.*3084G>T (n.*3084G>T)
n.3230G>T
c.*3162G>T (n.*3162G>T)
n.321G>T
c.3469G>T (p.Ala1157Ser)
c.3427G>T (p.Ala1143Ser)
c.3691G>T (p.Ala1231Ser)
c.3613G>T (p.Ala1205Ser)
c.3580G>T (p.Ala1194Ser)
c.3589G>T (p.Ala1197Ser)
c.2599G>T (p.Ala867Ser)
1g.154584925C=CA2480931203ADARc.3456G= (n.3456G=)
c.3592G= (p.Ala1198=)
c.3445G= (p.Ala1149=)
c.3214G= (p.Ala1072=)
c.2677G= (p.Ala893=)
c.3562G= (p.Ala1188=)
n.2355G=
c.3484G= (p.Ala1162=)
n.3547G=
c.*1037G= (n.*1037G=)
n.4298G=
c.*728G= (n.*728G=)
c.*1794G= (n.*1794G=)
n.4423G=
c.2620G= (p.Ala874=)
c.3379G= (p.Ala1127=)
c.*3084G= (n.*3084G=)
n.3230G=
c.*3162G= (n.*3162G=)
n.321G=
c.3469G= (p.Ala1157=)
c.3427G= (p.Ala1143=)
c.3691G= (p.Ala1231=)
c.3613G= (p.Ala1205=)
c.3580G= (p.Ala1194=)
c.3589G= (p.Ala1197=)
c.2599G= (p.Ala867=)
1g.154584925C>GCA342634689ADARc.3456G>C (n.3456G>C)
c.3592G>C (p.Ala1198Pro)
c.3445G>C (p.Ala1149Pro)
c.3214G>C (p.Ala1072Pro)
c.2677G>C (p.Ala893Pro)
c.3562G>C (p.Ala1188Pro)
n.2355G>C
c.3484G>C (p.Ala1162Pro)
n.3547G>C
c.*1037G>C (n.*1037G>C)
n.4298G>C
c.*728G>C (n.*728G>C)
c.*1794G>C (n.*1794G>C)
n.4423G>C
c.2620G>C (p.Ala874Pro)
c.3379G>C (p.Ala1127Pro)
c.*3084G>C (n.*3084G>C)
n.3230G>C
c.*3162G>C (n.*3162G>C)
n.321G>C
c.3469G>C (p.Ala1157Pro)
c.3427G>C (p.Ala1143Pro)
c.3691G>C (p.Ala1231Pro)
c.3613G>C (p.Ala1205Pro)
c.3580G>C (p.Ala1194Pro)
c.3589G>C (p.Ala1197Pro)
c.2599G>C (p.Ala867Pro)
1g.154584925C>TCA1130921ADARc.3456G>A (n.3456G>A)
c.3592G>A (p.Ala1198Thr)
c.3445G>A (p.Ala1149Thr)
c.3214G>A (p.Ala1072Thr)
c.2677G>A (p.Ala893Thr)
c.3562G>A (p.Ala1188Thr)
n.2355G>A
c.3484G>A (p.Ala1162Thr)
n.3547G>A
c.*1037G>A (n.*1037G>A)
n.4298G>A
c.*728G>A (n.*728G>A)
c.*1794G>A (n.*1794G>A)
n.4423G>A
c.2620G>A (p.Ala874Thr)
c.3379G>A (p.Ala1127Thr)
c.*3084G>A (n.*3084G>A)
n.3230G>A
c.*3162G>A (n.*3162G>A)
n.321G>A
c.3469G>A (p.Ala1157Thr)
c.3427G>A (p.Ala1143Thr)
c.3691G>A (p.Ala1231Thr)
c.3613G>A (p.Ala1205Thr)
c.3580G>A (p.Ala1194Thr)
c.3589G>A (p.Ala1197Thr)
c.2599G>A (p.Ala867Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584926T>ACA342634690ADARc.3455A>T (n.3455A>T)
c.3591A>T (p.Lys1197Asn)
c.3444A>T (p.Lys1148Asn)
c.3213A>T (p.Lys1071Asn)
c.2676A>T (p.Lys892Asn)
c.3561A>T (p.Lys1187Asn)
n.2354A>T
c.3483A>T (p.Lys1161Asn)
n.3546A>T
c.*1036A>T (n.*1036A>T)
n.4297A>T
c.*727A>T (n.*727A>T)
c.*1793A>T (n.*1793A>T)
n.4422A>T
c.2619A>T (p.Lys873Asn)
c.3378A>T (p.Lys1126Asn)
c.*3083A>T (n.*3083A>T)
n.3229A>T
c.*3161A>T (n.*3161A>T)
n.320A>T
c.3468A>T (p.Lys1156Asn)
c.3426A>T (p.Lys1142Asn)
c.3690A>T (p.Lys1230Asn)
c.3612A>T (p.Lys1204Asn)
c.3579A>T (p.Lys1193Asn)
c.3588A>T (p.Lys1196Asn)
c.2598A>T (p.Lys866Asn)
1g.154584926T>CCA421231465ADARc.3455A>G (n.3455A>G)
c.3591A>G (p.Lys1197=)
c.3444A>G (p.Lys1148=)
c.3213A>G (p.Lys1071=)
c.2676A>G (p.Lys892=)
c.3561A>G (p.Lys1187=)
n.2354A>G
c.3483A>G (p.Lys1161=)
n.3546A>G
c.*1036A>G (n.*1036A>G)
n.4297A>G
c.*727A>G (n.*727A>G)
c.*1793A>G (n.*1793A>G)
n.4422A>G
c.2619A>G (p.Lys873=)
c.3378A>G (p.Lys1126=)
c.*3083A>G (n.*3083A>G)
n.3229A>G
c.*3161A>G (n.*3161A>G)
n.320A>G
c.3468A>G (p.Lys1156=)
c.3426A>G (p.Lys1142=)
c.3690A>G (p.Lys1230=)
c.3612A>G (p.Lys1204=)
c.3579A>G (p.Lys1193=)
c.3588A>G (p.Lys1196=)
c.2598A>G (p.Lys866=)
 gnomAD v4
1g.154584926T>GCA342634691ADARc.3455A>C (n.3455A>C)
c.3591A>C (p.Lys1197Asn)
c.3444A>C (p.Lys1148Asn)
c.3213A>C (p.Lys1071Asn)
c.2676A>C (p.Lys892Asn)
c.3561A>C (p.Lys1187Asn)
n.2354A>C
c.3483A>C (p.Lys1161Asn)
n.3546A>C
c.*1036A>C (n.*1036A>C)
n.4297A>C
c.*727A>C (n.*727A>C)
c.*1793A>C (n.*1793A>C)
n.4422A>C
c.2619A>C (p.Lys873Asn)
c.3378A>C (p.Lys1126Asn)
c.*3083A>C (n.*3083A>C)
n.3229A>C
c.*3161A>C (n.*3161A>C)
n.320A>C
c.3468A>C (p.Lys1156Asn)
c.3426A>C (p.Lys1142Asn)
c.3690A>C (p.Lys1230Asn)
c.3612A>C (p.Lys1204Asn)
c.3579A>C (p.Lys1193Asn)
c.3588A>C (p.Lys1196Asn)
c.2598A>C (p.Lys866Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.154584926T=CA2480931204ADARc.3455A= (n.3455A=)
c.3591A= (p.Lys1197=)
c.3444A= (p.Lys1148=)
c.3213A= (p.Lys1071=)
c.2676A= (p.Lys892=)
c.3561A= (p.Lys1187=)
n.2354A=
c.3483A= (p.Lys1161=)
n.3546A=
c.*1036A= (n.*1036A=)
n.4297A=
c.*727A= (n.*727A=)
c.*1793A= (n.*1793A=)
n.4422A=
c.2619A= (p.Lys873=)
c.3378A= (p.Lys1126=)
c.*3083A= (n.*3083A=)
n.3229A=
c.*3161A= (n.*3161A=)
n.320A=
c.3468A= (p.Lys1156=)
c.3426A= (p.Lys1142=)
c.3690A= (p.Lys1230=)
c.3612A= (p.Lys1204=)
c.3579A= (p.Lys1193=)
c.3588A= (p.Lys1196=)
c.2598A= (p.Lys866=)
1g.154584928dupCA2573912075ADARc.3455dup (n.3455dup)
c.3591dup (p.Ala1198SerfsTer4)
c.3444dup (p.Ala1149SerfsTer4)
c.3213dup (p.Ala1072SerfsTer4)
c.2676dup (p.Ala893SerfsTer4)
c.3561dup (p.Ala1188SerfsTer4)
n.2354dup
c.3483dup (p.Ala1162SerfsTer4)
n.3546dup
c.*1036dup (n.*1036dup)
n.4297dup
c.*727dup (n.*727dup)
c.*1793dup (n.*1793dup)
n.4422dup
c.2619dup (p.Ala874SerfsTer4)
c.3378dup (p.Ala1127SerfsTer4)
c.*3083dup (n.*3083dup)
n.3229dup
c.*3161dup (n.*3161dup)
n.320dup
c.3468dup (p.Ala1157SerfsTer4)
c.3426dup (p.Ala1143SerfsTer4)
c.3690dup (p.Ala1231SerfsTer4)
c.3612dup (p.Ala1205SerfsTer4)
c.3579dup (p.Ala1194SerfsTer4)
c.3588dup (p.Ala1197SerfsTer4)
c.2598dup (p.Ala867SerfsTer4)
1g.154584927T>ACA342634692ADARc.3454A>T (n.3454A>T)
c.3590A>T (p.Lys1197Ile)
c.3443A>T (p.Lys1148Ile)
c.3212A>T (p.Lys1071Ile)
c.2675A>T (p.Lys892Ile)
c.3560A>T (p.Lys1187Ile)
n.2353A>T
c.3482A>T (p.Lys1161Ile)
n.3545A>T
c.*1035A>T (n.*1035A>T)
n.4296A>T
c.*726A>T (n.*726A>T)
c.*1792A>T (n.*1792A>T)
n.4421A>T
c.2618A>T (p.Lys873Ile)
c.3377A>T (p.Lys1126Ile)
c.*3082A>T (n.*3082A>T)
n.3228A>T
c.*3160A>T (n.*3160A>T)
n.319A>T
c.3467A>T (p.Lys1156Ile)
c.3425A>T (p.Lys1142Ile)
c.3689A>T (p.Lys1230Ile)
c.3611A>T (p.Lys1204Ile)
c.3578A>T (p.Lys1193Ile)
c.3587A>T (p.Lys1196Ile)
c.2597A>T (p.Lys866Ile)
1g.154584927T>CCA342634693ADARc.3454A>G (n.3454A>G)
c.3590A>G (p.Lys1197Arg)
c.3443A>G (p.Lys1148Arg)
c.3212A>G (p.Lys1071Arg)
c.2675A>G (p.Lys892Arg)
c.3560A>G (p.Lys1187Arg)
n.2353A>G
c.3482A>G (p.Lys1161Arg)
n.3545A>G
c.*1035A>G (n.*1035A>G)
n.4296A>G
c.*726A>G (n.*726A>G)
c.*1792A>G (n.*1792A>G)
n.4421A>G
c.2618A>G (p.Lys873Arg)
c.3377A>G (p.Lys1126Arg)
c.*3082A>G (n.*3082A>G)
n.3228A>G
c.*3160A>G (n.*3160A>G)
n.319A>G
c.3467A>G (p.Lys1156Arg)
c.3425A>G (p.Lys1142Arg)
c.3689A>G (p.Lys1230Arg)
c.3611A>G (p.Lys1204Arg)
c.3578A>G (p.Lys1193Arg)
c.3587A>G (p.Lys1196Arg)
c.2597A>G (p.Lys866Arg)
1g.154584927T>GCA342634694ADARc.3454A>C (n.3454A>C)
c.3590A>C (p.Lys1197Thr)
c.3443A>C (p.Lys1148Thr)
c.3212A>C (p.Lys1071Thr)
c.2675A>C (p.Lys892Thr)
c.3560A>C (p.Lys1187Thr)
n.2353A>C
c.3482A>C (p.Lys1161Thr)
n.3545A>C
c.*1035A>C (n.*1035A>C)
n.4296A>C
c.*726A>C (n.*726A>C)
c.*1792A>C (n.*1792A>C)
n.4421A>C
c.2618A>C (p.Lys873Thr)
c.3377A>C (p.Lys1126Thr)
c.*3082A>C (n.*3082A>C)
n.3228A>C
c.*3160A>C (n.*3160A>C)
n.319A>C
c.3467A>C (p.Lys1156Thr)
c.3425A>C (p.Lys1142Thr)
c.3689A>C (p.Lys1230Thr)
c.3611A>C (p.Lys1204Thr)
c.3578A>C (p.Lys1193Thr)
c.3587A>C (p.Lys1196Thr)
c.2597A>C (p.Lys866Thr)
1g.154584928T>ACA342634697ADARc.3453A>T (n.3453A>T)
c.3589A>T (p.Lys1197Ter)
c.3442A>T (p.Lys1148Ter)
c.3211A>T (p.Lys1071Ter)
c.2674A>T (p.Lys892Ter)
c.3559A>T (p.Lys1187Ter)
n.2352A>T
c.3481A>T (p.Lys1161Ter)
n.3544A>T
c.*1034A>T (n.*1034A>T)
n.4295A>T
c.*725A>T (n.*725A>T)
c.*1791A>T (n.*1791A>T)
n.4420A>T
c.2617A>T (p.Lys873Ter)
c.3376A>T (p.Lys1126Ter)
c.*3081A>T (n.*3081A>T)
n.3227A>T
c.*3159A>T (n.*3159A>T)
n.318A>T
c.3466A>T (p.Lys1156Ter)
c.3424A>T (p.Lys1142Ter)
c.3688A>T (p.Lys1230Ter)
c.3610A>T (p.Lys1204Ter)
c.3577A>T (p.Lys1193Ter)
c.3586A>T (p.Lys1196Ter)
c.2596A>T (p.Lys866Ter)
1g.154584928T>CCA342634696ADARc.3453A>G (n.3453A>G)
c.3589A>G (p.Lys1197Glu)
c.3442A>G (p.Lys1148Glu)
c.3211A>G (p.Lys1071Glu)
c.2674A>G (p.Lys892Glu)
c.3559A>G (p.Lys1187Glu)
n.2352A>G
c.3481A>G (p.Lys1161Glu)
n.3544A>G
c.*1034A>G (n.*1034A>G)
n.4295A>G
c.*725A>G (n.*725A>G)
c.*1791A>G (n.*1791A>G)
n.4420A>G
c.2617A>G (p.Lys873Glu)
c.3376A>G (p.Lys1126Glu)
c.*3081A>G (n.*3081A>G)
n.3227A>G
c.*3159A>G (n.*3159A>G)
n.318A>G
c.3466A>G (p.Lys1156Glu)
c.3424A>G (p.Lys1142Glu)
c.3688A>G (p.Lys1230Glu)
c.3610A>G (p.Lys1204Glu)
c.3577A>G (p.Lys1193Glu)
c.3586A>G (p.Lys1196Glu)
c.2596A>G (p.Lys866Glu)
1g.154584928T>GCA342634695ADARc.3453A>C (n.3453A>C)
c.3589A>C (p.Lys1197Gln)
c.3442A>C (p.Lys1148Gln)
c.3211A>C (p.Lys1071Gln)
c.2674A>C (p.Lys892Gln)
c.3559A>C (p.Lys1187Gln)
n.2352A>C
c.3481A>C (p.Lys1161Gln)
n.3544A>C
c.*1034A>C (n.*1034A>C)
n.4295A>C
c.*725A>C (n.*725A>C)
c.*1791A>C (n.*1791A>C)
n.4420A>C
c.2617A>C (p.Lys873Gln)
c.3376A>C (p.Lys1126Gln)
c.*3081A>C (n.*3081A>C)
n.3227A>C
c.*3159A>C (n.*3159A>C)
n.318A>C
c.3466A>C (p.Lys1156Gln)
c.3424A>C (p.Lys1142Gln)
c.3688A>C (p.Lys1230Gln)
c.3610A>C (p.Lys1204Gln)
c.3577A>C (p.Lys1193Gln)
c.3586A>C (p.Lys1196Gln)
c.2596A>C (p.Lys866Gln)
1g.154584929C>ACA342634698ADARc.3452G>T (n.3452G>T)
c.3588G>T (p.Lys1196Asn)
c.3441G>T (p.Lys1147Asn)
c.3210G>T (p.Lys1070Asn)
c.2673G>T (p.Lys891Asn)
c.3558G>T (p.Lys1186Asn)
n.2351G>T
c.3480G>T (p.Lys1160Asn)
n.3543G>T
c.*1033G>T (n.*1033G>T)
n.4294G>T
c.*724G>T (n.*724G>T)
c.*1790G>T (n.*1790G>T)
n.4419G>T
c.2616G>T (p.Lys872Asn)
c.3375G>T (p.Lys1125Asn)
c.*3080G>T (n.*3080G>T)
n.3226G>T
c.*3158G>T (n.*3158G>T)
n.317G>T
c.3465G>T (p.Lys1155Asn)
c.3423G>T (p.Lys1141Asn)
c.3687G>T (p.Lys1229Asn)
c.3609G>T (p.Lys1203Asn)
c.3576G>T (p.Lys1192Asn)
c.3585G>T (p.Lys1195Asn)
c.2595G>T (p.Lys865Asn)
1g.154584929C>GCA342634699ADARc.3452G>C (n.3452G>C)
c.3588G>C (p.Lys1196Asn)
c.3441G>C (p.Lys1147Asn)
c.3210G>C (p.Lys1070Asn)
c.2673G>C (p.Lys891Asn)
c.3558G>C (p.Lys1186Asn)
n.2351G>C
c.3480G>C (p.Lys1160Asn)
n.3543G>C
c.*1033G>C (n.*1033G>C)
n.4294G>C
c.*724G>C (n.*724G>C)
c.*1790G>C (n.*1790G>C)
n.4419G>C
c.2616G>C (p.Lys872Asn)
c.3375G>C (p.Lys1125Asn)
c.*3080G>C (n.*3080G>C)
n.3226G>C
c.*3158G>C (n.*3158G>C)
n.317G>C
c.3465G>C (p.Lys1155Asn)
c.3423G>C (p.Lys1141Asn)
c.3687G>C (p.Lys1229Asn)
c.3609G>C (p.Lys1203Asn)
c.3576G>C (p.Lys1192Asn)
c.3585G>C (p.Lys1195Asn)
c.2595G>C (p.Lys865Asn)
1g.154584929C>TCA421231469ADARc.3452G>A (n.3452G>A)
c.3588G>A (p.Lys1196=)
c.3441G>A (p.Lys1147=)
c.3210G>A (p.Lys1070=)
c.2673G>A (p.Lys891=)
c.3558G>A (p.Lys1186=)
n.2351G>A
c.3480G>A (p.Lys1160=)
n.3543G>A
c.*1033G>A (n.*1033G>A)
n.4294G>A
c.*724G>A (n.*724G>A)
c.*1790G>A (n.*1790G>A)
n.4419G>A
c.2616G>A (p.Lys872=)
c.3375G>A (p.Lys1125=)
c.*3080G>A (n.*3080G>A)
n.3226G>A
c.*3158G>A (n.*3158G>A)
n.317G>A
c.3465G>A (p.Lys1155=)
c.3423G>A (p.Lys1141=)
c.3687G>A (p.Lys1229=)
c.3609G>A (p.Lys1203=)
c.3576G>A (p.Lys1192=)
c.3585G>A (p.Lys1195=)
c.2595G>A (p.Lys865=)
1g.154584930T>ACA342634700ADARc.3451A>T (n.3451A>T)
c.3587A>T (p.Lys1196Met)
c.3440A>T (p.Lys1147Met)
c.3209A>T (p.Lys1070Met)
c.2672A>T (p.Lys891Met)
c.3557A>T (p.Lys1186Met)
n.2350A>T
c.3479A>T (p.Lys1160Met)
n.3542A>T
c.*1032A>T (n.*1032A>T)
n.4293A>T
c.*723A>T (n.*723A>T)
c.*1789A>T (n.*1789A>T)
n.4418A>T
c.2615A>T (p.Lys872Met)
c.3374A>T (p.Lys1125Met)
c.*3079A>T (n.*3079A>T)
n.3225A>T
c.*3157A>T (n.*3157A>T)
n.316A>T
c.3464A>T (p.Lys1155Met)
c.3422A>T (p.Lys1141Met)
c.3686A>T (p.Lys1229Met)
c.3608A>T (p.Lys1203Met)
c.3575A>T (p.Lys1192Met)
c.3584A>T (p.Lys1195Met)
c.2594A>T (p.Lys865Met)
1g.154584930T>CCA342634701ADARc.3451A>G (n.3451A>G)
c.3587A>G (p.Lys1196Arg)
c.3440A>G (p.Lys1147Arg)
c.3209A>G (p.Lys1070Arg)
c.2672A>G (p.Lys891Arg)
c.3557A>G (p.Lys1186Arg)
n.2350A>G
c.3479A>G (p.Lys1160Arg)
n.3542A>G
c.*1032A>G (n.*1032A>G)
n.4293A>G
c.*723A>G (n.*723A>G)
c.*1789A>G (n.*1789A>G)
n.4418A>G
c.2615A>G (p.Lys872Arg)
c.3374A>G (p.Lys1125Arg)
c.*3079A>G (n.*3079A>G)
n.3225A>G
c.*3157A>G (n.*3157A>G)
n.316A>G
c.3464A>G (p.Lys1155Arg)
c.3422A>G (p.Lys1141Arg)
c.3686A>G (p.Lys1229Arg)
c.3608A>G (p.Lys1203Arg)
c.3575A>G (p.Lys1192Arg)
c.3584A>G (p.Lys1195Arg)
c.2594A>G (p.Lys865Arg)
 gnomAD v4
1g.154584930T>GCA342634702ADARc.3451A>C (n.3451A>C)
c.3587A>C (p.Lys1196Thr)
c.3440A>C (p.Lys1147Thr)
c.3209A>C (p.Lys1070Thr)
c.2672A>C (p.Lys891Thr)
c.3557A>C (p.Lys1186Thr)
n.2350A>C
c.3479A>C (p.Lys1160Thr)
n.3542A>C
c.*1032A>C (n.*1032A>C)
n.4293A>C
c.*723A>C (n.*723A>C)
c.*1789A>C (n.*1789A>C)
n.4418A>C
c.2615A>C (p.Lys872Thr)
c.3374A>C (p.Lys1125Thr)
c.*3079A>C (n.*3079A>C)
n.3225A>C
c.*3157A>C (n.*3157A>C)
n.316A>C
c.3464A>C (p.Lys1155Thr)
c.3422A>C (p.Lys1141Thr)
c.3686A>C (p.Lys1229Thr)
c.3608A>C (p.Lys1203Thr)
c.3575A>C (p.Lys1192Thr)
c.3584A>C (p.Lys1195Thr)
c.2594A>C (p.Lys865Thr)
1g.154584931T>ACA342634703ADARc.3450A>T (n.3450A>T)
c.3586A>T (p.Lys1196Ter)
c.3439A>T (p.Lys1147Ter)
c.3208A>T (p.Lys1070Ter)
c.2671A>T (p.Lys891Ter)
c.3556A>T (p.Lys1186Ter)
n.2349A>T
c.3478A>T (p.Lys1160Ter)
n.3541A>T
c.*1031A>T (n.*1031A>T)
n.4292A>T
c.*722A>T (n.*722A>T)
c.*1788A>T (n.*1788A>T)
n.4417A>T
c.2614A>T (p.Lys872Ter)
c.3373A>T (p.Lys1125Ter)
c.*3078A>T (n.*3078A>T)
n.3224A>T
c.*3156A>T (n.*3156A>T)
n.315A>T
c.3463A>T (p.Lys1155Ter)
c.3421A>T (p.Lys1141Ter)
c.3685A>T (p.Lys1229Ter)
c.3607A>T (p.Lys1203Ter)
c.3574A>T (p.Lys1192Ter)
c.3583A>T (p.Lys1195Ter)
c.2593A>T (p.Lys865Ter)
1g.154584931T>CCA342634704ADARc.3450A>G (n.3450A>G)
c.3586A>G (p.Lys1196Glu)
c.3439A>G (p.Lys1147Glu)
c.3208A>G (p.Lys1070Glu)
c.2671A>G (p.Lys891Glu)
c.3556A>G (p.Lys1186Glu)
n.2349A>G
c.3478A>G (p.Lys1160Glu)
n.3541A>G
c.*1031A>G (n.*1031A>G)
n.4292A>G
c.*722A>G (n.*722A>G)
c.*1788A>G (n.*1788A>G)
n.4417A>G
c.2614A>G (p.Lys872Glu)
c.3373A>G (p.Lys1125Glu)
c.*3078A>G (n.*3078A>G)
n.3224A>G
c.*3156A>G (n.*3156A>G)
n.315A>G
c.3463A>G (p.Lys1155Glu)
c.3421A>G (p.Lys1141Glu)
c.3685A>G (p.Lys1229Glu)
c.3607A>G (p.Lys1203Glu)
c.3574A>G (p.Lys1192Glu)
c.3583A>G (p.Lys1195Glu)
c.2593A>G (p.Lys865Glu)
 ClinVar dbSNP
1g.154584931T>GCA342634705ADARc.3450A>C (n.3450A>C)
c.3586A>C (p.Lys1196Gln)
c.3439A>C (p.Lys1147Gln)
c.3208A>C (p.Lys1070Gln)
c.2671A>C (p.Lys891Gln)
c.3556A>C (p.Lys1186Gln)
n.2349A>C
c.3478A>C (p.Lys1160Gln)
n.3541A>C
c.*1031A>C (n.*1031A>C)
n.4292A>C
c.*722A>C (n.*722A>C)
c.*1788A>C (n.*1788A>C)
n.4417A>C
c.2614A>C (p.Lys872Gln)
c.3373A>C (p.Lys1125Gln)
c.*3078A>C (n.*3078A>C)
n.3224A>C
c.*3156A>C (n.*3156A>C)
n.315A>C
c.3463A>C (p.Lys1155Gln)
c.3421A>C (p.Lys1141Gln)
c.3685A>C (p.Lys1229Gln)
c.3607A>C (p.Lys1203Gln)
c.3574A>C (p.Lys1192Gln)
c.3583A>C (p.Lys1195Gln)
c.2593A>C (p.Lys865Gln)
1g.154584932G>ACA421231471ADARc.3449C>T (n.3449C>T)
c.3585C>T (p.Ala1195=)
c.3438C>T (p.Ala1146=)
c.3207C>T (p.Ala1069=)
c.2670C>T (p.Ala890=)
c.3555C>T (p.Ala1185=)
n.2348C>T
c.3477C>T (p.Ala1159=)
n.3540C>T
c.*1030C>T (n.*1030C>T)
n.4291C>T
c.*721C>T (n.*721C>T)
c.*1787C>T (n.*1787C>T)
n.4416C>T
c.2613C>T (p.Ala871=)
c.3372C>T (p.Ala1124=)
c.*3077C>T (n.*3077C>T)
n.3223C>T
c.*3155C>T (n.*3155C>T)
n.314C>T
c.3462C>T (p.Ala1154=)
c.3420C>T (p.Ala1140=)
c.3684C>T (p.Ala1228=)
c.3606C>T (p.Ala1202=)
c.3573C>T (p.Ala1191=)
c.3582C>T (p.Ala1194=)
c.2592C>T (p.Ala864=)
1g.154584932G>CCA421231474ADARc.3449C>G (n.3449C>G)
c.3585C>G (p.Ala1195=)
c.3438C>G (p.Ala1146=)
c.3207C>G (p.Ala1069=)
c.2670C>G (p.Ala890=)
c.3555C>G (p.Ala1185=)
n.2348C>G
c.3477C>G (p.Ala1159=)
n.3540C>G
c.*1030C>G (n.*1030C>G)
n.4291C>G
c.*721C>G (n.*721C>G)
c.*1787C>G (n.*1787C>G)
n.4416C>G
c.2613C>G (p.Ala871=)
c.3372C>G (p.Ala1124=)
c.*3077C>G (n.*3077C>G)
n.3223C>G
c.*3155C>G (n.*3155C>G)
n.314C>G
c.3462C>G (p.Ala1154=)
c.3420C>G (p.Ala1140=)
c.3684C>G (p.Ala1228=)
c.3606C>G (p.Ala1202=)
c.3573C>G (p.Ala1191=)
c.3582C>G (p.Ala1194=)
c.2592C>G (p.Ala864=)
1g.154584932G>TCA421231472ADARc.3449C>A (n.3449C>A)
c.3585C>A (p.Ala1195=)
c.3438C>A (p.Ala1146=)
c.3207C>A (p.Ala1069=)
c.2670C>A (p.Ala890=)
c.3555C>A (p.Ala1185=)
n.2348C>A
c.3477C>A (p.Ala1159=)
n.3540C>A
c.*1030C>A (n.*1030C>A)
n.4291C>A
c.*721C>A (n.*721C>A)
c.*1787C>A (n.*1787C>A)
n.4416C>A
c.2613C>A (p.Ala871=)
c.3372C>A (p.Ala1124=)
c.*3077C>A (n.*3077C>A)
n.3223C>A
c.*3155C>A (n.*3155C>A)
n.314C>A
c.3462C>A (p.Ala1154=)
c.3420C>A (p.Ala1140=)
c.3684C>A (p.Ala1228=)
c.3606C>A (p.Ala1202=)
c.3573C>A (p.Ala1191=)
c.3582C>A (p.Ala1194=)
c.2592C>A (p.Ala864=)
1g.154584933G>ACA342634706ADARc.3448C>T (n.3448C>T)
c.3584C>T (p.Ala1195Val)
c.3437C>T (p.Ala1146Val)
c.3206C>T (p.Ala1069Val)
c.2669C>T (p.Ala890Val)
c.3554C>T (p.Ala1185Val)
n.2347C>T
c.3476C>T (p.Ala1159Val)
n.3539C>T
c.*1029C>T (n.*1029C>T)
n.4290C>T
c.*720C>T (n.*720C>T)
c.*1786C>T (n.*1786C>T)
n.4415C>T
c.2612C>T (p.Ala871Val)
c.3371C>T (p.Ala1124Val)
c.*3076C>T (n.*3076C>T)
n.3222C>T
c.*3154C>T (n.*3154C>T)
n.313C>T
c.3461C>T (p.Ala1154Val)
c.3419C>T (p.Ala1140Val)
c.3683C>T (p.Ala1228Val)
c.3605C>T (p.Ala1202Val)
c.3572C>T (p.Ala1191Val)
c.3581C>T (p.Ala1194Val)
c.2591C>T (p.Ala864Val)
 gnomAD v4
1g.154584933G>CCA342634707ADARc.3448C>G (n.3448C>G)
c.3584C>G (p.Ala1195Gly)
c.3437C>G (p.Ala1146Gly)
c.3206C>G (p.Ala1069Gly)
c.2669C>G (p.Ala890Gly)
c.3554C>G (p.Ala1185Gly)
n.2347C>G
c.3476C>G (p.Ala1159Gly)
n.3539C>G
c.*1029C>G (n.*1029C>G)
n.4290C>G
c.*720C>G (n.*720C>G)
c.*1786C>G (n.*1786C>G)
n.4415C>G
c.2612C>G (p.Ala871Gly)
c.3371C>G (p.Ala1124Gly)
c.*3076C>G (n.*3076C>G)
n.3222C>G
c.*3154C>G (n.*3154C>G)
n.313C>G
c.3461C>G (p.Ala1154Gly)
c.3419C>G (p.Ala1140Gly)
c.3683C>G (p.Ala1228Gly)
c.3605C>G (p.Ala1202Gly)
c.3572C>G (p.Ala1191Gly)
c.3581C>G (p.Ala1194Gly)
c.2591C>G (p.Ala864Gly)
1g.154584933G>TCA342634708ADARc.3448C>A (n.3448C>A)
c.3584C>A (p.Ala1195Asp)
c.3437C>A (p.Ala1146Asp)
c.3206C>A (p.Ala1069Asp)
c.2669C>A (p.Ala890Asp)
c.3554C>A (p.Ala1185Asp)
n.2347C>A
c.3476C>A (p.Ala1159Asp)
n.3539C>A
c.*1029C>A (n.*1029C>A)
n.4290C>A
c.*720C>A (n.*720C>A)
c.*1786C>A (n.*1786C>A)
n.4415C>A
c.2612C>A (p.Ala871Asp)
c.3371C>A (p.Ala1124Asp)
c.*3076C>A (n.*3076C>A)
n.3222C>A
c.*3154C>A (n.*3154C>A)
n.313C>A
c.3461C>A (p.Ala1154Asp)
c.3419C>A (p.Ala1140Asp)
c.3683C>A (p.Ala1228Asp)
c.3605C>A (p.Ala1202Asp)
c.3572C>A (p.Ala1191Asp)
c.3581C>A (p.Ala1194Asp)
c.2591C>A (p.Ala864Asp)
1g.154584934C>ACA342634709ADARc.3447G>T (n.3447G>T)
c.3583G>T (p.Ala1195Ser)
c.3436G>T (p.Ala1146Ser)
c.3205G>T (p.Ala1069Ser)
c.2668G>T (p.Ala890Ser)
c.3553G>T (p.Ala1185Ser)
n.2346G>T
c.3475G>T (p.Ala1159Ser)
n.3538G>T
c.*1028G>T (n.*1028G>T)
n.4289G>T
c.*719G>T (n.*719G>T)
c.*1785G>T (n.*1785G>T)
n.4414G>T
c.2611G>T (p.Ala871Ser)
c.3370G>T (p.Ala1124Ser)
c.*3075G>T (n.*3075G>T)
n.3221G>T
c.*3153G>T (n.*3153G>T)
n.312G>T
c.3460G>T (p.Ala1154Ser)
c.3418G>T (p.Ala1140Ser)
c.3682G>T (p.Ala1228Ser)
c.3604G>T (p.Ala1202Ser)
c.3571G>T (p.Ala1191Ser)
c.3580G>T (p.Ala1194Ser)
c.2590G>T (p.Ala864Ser)
 gnomAD v4
1g.154584934C>GCA342634710ADARc.3447G>C (n.3447G>C)
c.3583G>C (p.Ala1195Pro)
c.3436G>C (p.Ala1146Pro)
c.3205G>C (p.Ala1069Pro)
c.2668G>C (p.Ala890Pro)
c.3553G>C (p.Ala1185Pro)
n.2346G>C
c.3475G>C (p.Ala1159Pro)
n.3538G>C
c.*1028G>C (n.*1028G>C)
n.4289G>C
c.*719G>C (n.*719G>C)
c.*1785G>C (n.*1785G>C)
n.4414G>C
c.2611G>C (p.Ala871Pro)
c.3370G>C (p.Ala1124Pro)
c.*3075G>C (n.*3075G>C)
n.3221G>C
c.*3153G>C (n.*3153G>C)
n.312G>C
c.3460G>C (p.Ala1154Pro)
c.3418G>C (p.Ala1140Pro)
c.3682G>C (p.Ala1228Pro)
c.3604G>C (p.Ala1202Pro)
c.3571G>C (p.Ala1191Pro)
c.3580G>C (p.Ala1194Pro)
c.2590G>C (p.Ala864Pro)
1g.154584934C>TCA342634711ADARc.3447G>A (n.3447G>A)
c.3583G>A (p.Ala1195Thr)
c.3436G>A (p.Ala1146Thr)
c.3205G>A (p.Ala1069Thr)
c.2668G>A (p.Ala890Thr)
c.3553G>A (p.Ala1185Thr)
n.2346G>A
c.3475G>A (p.Ala1159Thr)
n.3538G>A
c.*1028G>A (n.*1028G>A)
n.4289G>A
c.*719G>A (n.*719G>A)
c.*1785G>A (n.*1785G>A)
n.4414G>A
c.2611G>A (p.Ala871Thr)
c.3370G>A (p.Ala1124Thr)
c.*3075G>A (n.*3075G>A)
n.3221G>A
c.*3153G>A (n.*3153G>A)
n.312G>A
c.3460G>A (p.Ala1154Thr)
c.3418G>A (p.Ala1140Thr)
c.3682G>A (p.Ala1228Thr)
c.3604G>A (p.Ala1202Thr)
c.3571G>A (p.Ala1191Thr)
c.3580G>A (p.Ala1194Thr)
c.2590G>A (p.Ala864Thr)
1g.154584935C>ACA342634713ADARc.3446G>T (n.3446G>T)
c.3582G>T (p.Glu1194Asp)
c.3435G>T (p.Glu1145Asp)
c.3204G>T (p.Glu1068Asp)
c.2667G>T (p.Glu889Asp)
c.3552G>T (p.Glu1184Asp)
n.2345G>T
c.3474G>T (p.Glu1158Asp)
n.3537G>T
c.*1027G>T (n.*1027G>T)
n.4288G>T
c.*718G>T (n.*718G>T)
c.*1784G>T (n.*1784G>T)
n.4413G>T
c.2610G>T (p.Glu870Asp)
c.3369G>T (p.Glu1123Asp)
c.*3074G>T (n.*3074G>T)
n.3220G>T
c.*3152G>T (n.*3152G>T)
n.311G>T
c.3459G>T (p.Glu1153Asp)
c.3417G>T (p.Glu1139Asp)
c.3681G>T (p.Glu1227Asp)
c.3603G>T (p.Glu1201Asp)
c.3570G>T (p.Glu1190Asp)
c.3579G>T (p.Glu1193Asp)
c.2589G>T (p.Glu863Asp)
1g.154584935C>GCA342634712ADARc.3446G>C (n.3446G>C)
c.3582G>C (p.Glu1194Asp)
c.3435G>C (p.Glu1145Asp)
c.3204G>C (p.Glu1068Asp)
c.2667G>C (p.Glu889Asp)
c.3552G>C (p.Glu1184Asp)
n.2345G>C
c.3474G>C (p.Glu1158Asp)
n.3537G>C
c.*1027G>C (n.*1027G>C)
n.4288G>C
c.*718G>C (n.*718G>C)
c.*1784G>C (n.*1784G>C)
n.4413G>C
c.2610G>C (p.Glu870Asp)
c.3369G>C (p.Glu1123Asp)
c.*3074G>C (n.*3074G>C)
n.3220G>C
c.*3152G>C (n.*3152G>C)
n.311G>C
c.3459G>C (p.Glu1153Asp)
c.3417G>C (p.Glu1139Asp)
c.3681G>C (p.Glu1227Asp)
c.3603G>C (p.Glu1201Asp)
c.3570G>C (p.Glu1190Asp)
c.3579G>C (p.Glu1193Asp)
c.2589G>C (p.Glu863Asp)
1g.154584935C>TCA421231476ADARc.3446G>A (n.3446G>A)
c.3582G>A (p.Glu1194=)
c.3435G>A (p.Glu1145=)
c.3204G>A (p.Glu1068=)
c.2667G>A (p.Glu889=)
c.3552G>A (p.Glu1184=)
n.2345G>A
c.3474G>A (p.Glu1158=)
n.3537G>A
c.*1027G>A (n.*1027G>A)
n.4288G>A
c.*718G>A (n.*718G>A)
c.*1784G>A (n.*1784G>A)
n.4413G>A
c.2610G>A (p.Glu870=)
c.3369G>A (p.Glu1123=)
c.*3074G>A (n.*3074G>A)
n.3220G>A
c.*3152G>A (n.*3152G>A)
n.311G>A
c.3459G>A (p.Glu1153=)
c.3417G>A (p.Glu1139=)
c.3681G>A (p.Glu1227=)
c.3603G>A (p.Glu1201=)
c.3570G>A (p.Glu1190=)
c.3579G>A (p.Glu1193=)
c.2589G>A (p.Glu863=)
1g.154584936T>ACA342634714ADARc.3445A>T (n.3445A>T)
c.3581A>T (p.Glu1194Val)
c.3434A>T (p.Glu1145Val)
c.3203A>T (p.Glu1068Val)
c.2666A>T (p.Glu889Val)
c.3551A>T (p.Glu1184Val)
n.2344A>T
c.3473A>T (p.Glu1158Val)
n.3536A>T
c.*1026A>T (n.*1026A>T)
n.4287A>T
c.*717A>T (n.*717A>T)
c.*1783A>T (n.*1783A>T)
n.4412A>T
c.2609A>T (p.Glu870Val)
c.3368A>T (p.Glu1123Val)
c.*3073A>T (n.*3073A>T)
n.3219A>T
c.*3151A>T (n.*3151A>T)
n.310A>T
c.3458A>T (p.Glu1153Val)
c.3416A>T (p.Glu1139Val)
c.3680A>T (p.Glu1227Val)
c.3602A>T (p.Glu1201Val)
c.3569A>T (p.Glu1190Val)
c.3578A>T (p.Glu1193Val)
c.2588A>T (p.Glu863Val)
1g.154584936T>CCA342634715ADARc.3445A>G (n.3445A>G)
c.3581A>G (p.Glu1194Gly)
c.3434A>G (p.Glu1145Gly)
c.3203A>G (p.Glu1068Gly)
c.2666A>G (p.Glu889Gly)
c.3551A>G (p.Glu1184Gly)
n.2344A>G
c.3473A>G (p.Glu1158Gly)
n.3536A>G
c.*1026A>G (n.*1026A>G)
n.4287A>G
c.*717A>G (n.*717A>G)
c.*1783A>G (n.*1783A>G)
n.4412A>G
c.2609A>G (p.Glu870Gly)
c.3368A>G (p.Glu1123Gly)
c.*3073A>G (n.*3073A>G)
n.3219A>G
c.*3151A>G (n.*3151A>G)
n.310A>G
c.3458A>G (p.Glu1153Gly)
c.3416A>G (p.Glu1139Gly)
c.3680A>G (p.Glu1227Gly)
c.3602A>G (p.Glu1201Gly)
c.3569A>G (p.Glu1190Gly)
c.3578A>G (p.Glu1193Gly)
c.2588A>G (p.Glu863Gly)
1g.154584936T>GCA342634716ADARc.3445A>C (n.3445A>C)
c.3581A>C (p.Glu1194Ala)
c.3434A>C (p.Glu1145Ala)
c.3203A>C (p.Glu1068Ala)
c.2666A>C (p.Glu889Ala)
c.3551A>C (p.Glu1184Ala)
n.2344A>C
c.3473A>C (p.Glu1158Ala)
n.3536A>C
c.*1026A>C (n.*1026A>C)
n.4287A>C
c.*717A>C (n.*717A>C)
c.*1783A>C (n.*1783A>C)
n.4412A>C
c.2609A>C (p.Glu870Ala)
c.3368A>C (p.Glu1123Ala)
c.*3073A>C (n.*3073A>C)
n.3219A>C
c.*3151A>C (n.*3151A>C)
n.310A>C
c.3458A>C (p.Glu1153Ala)
c.3416A>C (p.Glu1139Ala)
c.3680A>C (p.Glu1227Ala)
c.3602A>C (p.Glu1201Ala)
c.3569A>C (p.Glu1190Ala)
c.3578A>C (p.Glu1193Ala)
c.2588A>C (p.Glu863Ala)
1g.154584937C>ACA342634717ADARc.3444G>T (n.3444G>T)
c.3580G>T (p.Glu1194Ter)
c.3433G>T (p.Glu1145Ter)
c.3202G>T (p.Glu1068Ter)
c.2665G>T (p.Glu889Ter)
c.3550G>T (p.Glu1184Ter)
n.2343G>T
c.3472G>T (p.Glu1158Ter)
n.3535G>T
c.*1025G>T (n.*1025G>T)
n.4286G>T
c.*716G>T (n.*716G>T)
c.*1782G>T (n.*1782G>T)
n.4411G>T
c.2608G>T (p.Glu870Ter)
c.3367G>T (p.Glu1123Ter)
c.*3072G>T (n.*3072G>T)
n.3218G>T
c.*3150G>T (n.*3150G>T)
n.309G>T
c.3457G>T (p.Glu1153Ter)
c.3415G>T (p.Glu1139Ter)
c.3679G>T (p.Glu1227Ter)
c.3601G>T (p.Glu1201Ter)
c.3568G>T (p.Glu1190Ter)
c.3577G>T (p.Glu1193Ter)
c.2587G>T (p.Glu863Ter)
1g.154584937C>GCA342634718ADARc.3444G>C (n.3444G>C)
c.3580G>C (p.Glu1194Gln)
c.3433G>C (p.Glu1145Gln)
c.3202G>C (p.Glu1068Gln)
c.2665G>C (p.Glu889Gln)
c.3550G>C (p.Glu1184Gln)
n.2343G>C
c.3472G>C (p.Glu1158Gln)
n.3535G>C
c.*1025G>C (n.*1025G>C)
n.4286G>C
c.*716G>C (n.*716G>C)
c.*1782G>C (n.*1782G>C)
n.4411G>C
c.2608G>C (p.Glu870Gln)
c.3367G>C (p.Glu1123Gln)
c.*3072G>C (n.*3072G>C)
n.3218G>C
c.*3150G>C (n.*3150G>C)
n.309G>C
c.3457G>C (p.Glu1153Gln)
c.3415G>C (p.Glu1139Gln)
c.3679G>C (p.Glu1227Gln)
c.3601G>C (p.Glu1201Gln)
c.3568G>C (p.Glu1190Gln)
c.3577G>C (p.Glu1193Gln)
c.2587G>C (p.Glu863Gln)
1g.154584937C>TCA342634719ADARc.3444G>A (n.3444G>A)
c.3580G>A (p.Glu1194Lys)
c.3433G>A (p.Glu1145Lys)
c.3202G>A (p.Glu1068Lys)
c.2665G>A (p.Glu889Lys)
c.3550G>A (p.Glu1184Lys)
n.2343G>A
c.3472G>A (p.Glu1158Lys)
n.3535G>A
c.*1025G>A (n.*1025G>A)
n.4286G>A
c.*716G>A (n.*716G>A)
c.*1782G>A (n.*1782G>A)
n.4411G>A
c.2608G>A (p.Glu870Lys)
c.3367G>A (p.Glu1123Lys)
c.*3072G>A (n.*3072G>A)
n.3218G>A
c.*3150G>A (n.*3150G>A)
n.309G>A
c.3457G>A (p.Glu1153Lys)
c.3415G>A (p.Glu1139Lys)
c.3679G>A (p.Glu1227Lys)
c.3601G>A (p.Glu1201Lys)
c.3568G>A (p.Glu1190Lys)
c.3577G>A (p.Glu1193Lys)
c.2587G>A (p.Glu863Lys)
 COSMIC
1g.154584938A=CA2480931205ADARc.3443T= (n.3443T=)
c.3579T= (p.Gly1193=)
c.3432T= (p.Gly1144=)
c.3201T= (p.Gly1067=)
c.2664T= (p.Gly888=)
c.3549T= (p.Gly1183=)
n.2342T=
c.3471T= (p.Gly1157=)
n.3534T=
c.*1024T= (n.*1024T=)
n.4285T=
c.*715T= (n.*715T=)
c.*1781T= (n.*1781T=)
n.4410T=
c.2607T= (p.Gly869=)
c.3366T= (p.Gly1122=)
c.*3071T= (n.*3071T=)
n.3217T=
c.*3149T= (n.*3149T=)
n.308T=
c.3456T= (p.Gly1152=)
c.3414T= (p.Gly1138=)
c.3678T= (p.Gly1226=)
c.3600T= (p.Gly1200=)
c.3567T= (p.Gly1189=)
c.3576T= (p.Gly1192=)
c.2586T= (p.Gly862=)
1g.154584938A>CCA421231480ADARc.3443T>G (n.3443T>G)
c.3579T>G (p.Gly1193=)
c.3432T>G (p.Gly1144=)
c.3201T>G (p.Gly1067=)
c.2664T>G (p.Gly888=)
c.3549T>G (p.Gly1183=)
n.2342T>G
c.3471T>G (p.Gly1157=)
n.3534T>G
c.*1024T>G (n.*1024T>G)
n.4285T>G
c.*715T>G (n.*715T>G)
c.*1781T>G (n.*1781T>G)
n.4410T>G
c.2607T>G (p.Gly869=)
c.3366T>G (p.Gly1122=)
c.*3071T>G (n.*3071T>G)
n.3217T>G
c.*3149T>G (n.*3149T>G)
n.308T>G
c.3456T>G (p.Gly1152=)
c.3414T>G (p.Gly1138=)
c.3678T>G (p.Gly1226=)
c.3600T>G (p.Gly1200=)
c.3567T>G (p.Gly1189=)
c.3576T>G (p.Gly1192=)
c.2586T>G (p.Gly862=)
 dbSNP gnomAD v2 gnomAD v4
1g.154584938A>GCA421231481ADARc.3443T>C (n.3443T>C)
c.3579T>C (p.Gly1193=)
c.3432T>C (p.Gly1144=)
c.3201T>C (p.Gly1067=)
c.2664T>C (p.Gly888=)
c.3549T>C (p.Gly1183=)
n.2342T>C
c.3471T>C (p.Gly1157=)
n.3534T>C
c.*1024T>C (n.*1024T>C)
n.4285T>C
c.*715T>C (n.*715T>C)
c.*1781T>C (n.*1781T>C)
n.4410T>C
c.2607T>C (p.Gly869=)
c.3366T>C (p.Gly1122=)
c.*3071T>C (n.*3071T>C)
n.3217T>C
c.*3149T>C (n.*3149T>C)
n.308T>C
c.3456T>C (p.Gly1152=)
c.3414T>C (p.Gly1138=)
c.3678T>C (p.Gly1226=)
c.3600T>C (p.Gly1200=)
c.3567T>C (p.Gly1189=)
c.3576T>C (p.Gly1192=)
c.2586T>C (p.Gly862=)
1g.154584938A>TCA421231482ADARc.3443T>A (n.3443T>A)
c.3579T>A (p.Gly1193=)
c.3432T>A (p.Gly1144=)
c.3201T>A (p.Gly1067=)
c.2664T>A (p.Gly888=)
c.3549T>A (p.Gly1183=)
n.2342T>A
c.3471T>A (p.Gly1157=)
n.3534T>A
c.*1024T>A (n.*1024T>A)
n.4285T>A
c.*715T>A (n.*715T>A)
c.*1781T>A (n.*1781T>A)
n.4410T>A
c.2607T>A (p.Gly869=)
c.3366T>A (p.Gly1122=)
c.*3071T>A (n.*3071T>A)
n.3217T>A
c.*3149T>A (n.*3149T>A)
n.308T>A
c.3456T>A (p.Gly1152=)
c.3414T>A (p.Gly1138=)
c.3678T>A (p.Gly1226=)
c.3600T>A (p.Gly1200=)
c.3567T>A (p.Gly1189=)
c.3576T>A (p.Gly1192=)
c.2586T>A (p.Gly862=)
1g.154584939C>ACA342634720ADARc.3442G>T (n.3442G>T)
c.3578G>T (p.Gly1193Val)
c.3431G>T (p.Gly1144Val)
c.3200G>T (p.Gly1067Val)
c.2663G>T (p.Gly888Val)
c.3548G>T (p.Gly1183Val)
n.2341G>T
c.3470G>T (p.Gly1157Val)
n.3533G>T
c.*1023G>T (n.*1023G>T)
n.4284G>T
c.*714G>T (n.*714G>T)
c.*1780G>T (n.*1780G>T)
n.4409G>T
c.2606G>T (p.Gly869Val)
c.3365G>T (p.Gly1122Val)
c.*3070G>T (n.*3070G>T)
n.3216G>T
c.*3148G>T (n.*3148G>T)
n.307G>T
c.3455G>T (p.Gly1152Val)
c.3413G>T (p.Gly1138Val)
c.3677G>T (p.Gly1226Val)
c.3599G>T (p.Gly1200Val)
c.3566G>T (p.Gly1189Val)
c.3575G>T (p.Gly1192Val)
c.2585G>T (p.Gly862Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154584939C=CA2480931206ADARc.3442G= (n.3442G=)
c.3578G= (p.Gly1193=)
c.3431G= (p.Gly1144=)
c.3200G= (p.Gly1067=)
c.2663G= (p.Gly888=)
c.3548G= (p.Gly1183=)
n.2341G=
c.3470G= (p.Gly1157=)
n.3533G=
c.*1023G= (n.*1023G=)
n.4284G=
c.*714G= (n.*714G=)
c.*1780G= (n.*1780G=)
n.4409G=
c.2606G= (p.Gly869=)
c.3365G= (p.Gly1122=)
c.*3070G= (n.*3070G=)
n.3216G=
c.*3148G= (n.*3148G=)
n.307G=
c.3455G= (p.Gly1152=)
c.3413G= (p.Gly1138=)
c.3677G= (p.Gly1226=)
c.3599G= (p.Gly1200=)
c.3566G= (p.Gly1189=)
c.3575G= (p.Gly1192=)
c.2585G= (p.Gly862=)
1g.154584939C>GCA342634721ADARc.3442G>C (n.3442G>C)
c.3578G>C (p.Gly1193Ala)
c.3431G>C (p.Gly1144Ala)
c.3200G>C (p.Gly1067Ala)
c.2663G>C (p.Gly888Ala)
c.3548G>C (p.Gly1183Ala)
n.2341G>C
c.3470G>C (p.Gly1157Ala)
n.3533G>C
c.*1023G>C (n.*1023G>C)
n.4284G>C
c.*714G>C (n.*714G>C)
c.*1780G>C (n.*1780G>C)
n.4409G>C
c.2606G>C (p.Gly869Ala)
c.3365G>C (p.Gly1122Ala)
c.*3070G>C (n.*3070G>C)
n.3216G>C
c.*3148G>C (n.*3148G>C)
n.307G>C
c.3455G>C (p.Gly1152Ala)
c.3413G>C (p.Gly1138Ala)
c.3677G>C (p.Gly1226Ala)
c.3599G>C (p.Gly1200Ala)
c.3566G>C (p.Gly1189Ala)
c.3575G>C (p.Gly1192Ala)
c.2585G>C (p.Gly862Ala)
1g.154584939C>TCA1130922ADARc.3442G>A (n.3442G>A)
c.3578G>A (p.Gly1193Asp)
c.3431G>A (p.Gly1144Asp)
c.3200G>A (p.Gly1067Asp)
c.2663G>A (p.Gly888Asp)
c.3548G>A (p.Gly1183Asp)
n.2341G>A
c.3470G>A (p.Gly1157Asp)
n.3533G>A
c.*1023G>A (n.*1023G>A)
n.4284G>A
c.*714G>A (n.*714G>A)
c.*1780G>A (n.*1780G>A)
n.4409G>A
c.2606G>A (p.Gly869Asp)
c.3365G>A (p.Gly1122Asp)
c.*3070G>A (n.*3070G>A)
n.3216G>A
c.*3148G>A (n.*3148G>A)
n.307G>A
c.3455G>A (p.Gly1152Asp)
c.3413G>A (p.Gly1138Asp)
c.3677G>A (p.Gly1226Asp)
c.3599G>A (p.Gly1200Asp)
c.3566G>A (p.Gly1189Asp)
c.3575G>A (p.Gly1192Asp)
c.2585G>A (p.Gly862Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584940C>ACA342634722ADARc.3441G>T (n.3441G>T)
c.3577G>T (p.Gly1193Cys)
c.3430G>T (p.Gly1144Cys)
c.3199G>T (p.Gly1067Cys)
c.2662G>T (p.Gly888Cys)
c.3547G>T (p.Gly1183Cys)
n.2340G>T
c.3469G>T (p.Gly1157Cys)
n.3532G>T
c.*1022G>T (n.*1022G>T)
n.4283G>T
c.*713G>T (n.*713G>T)
c.*1779G>T (n.*1779G>T)
n.4408G>T
c.2605G>T (p.Gly869Cys)
c.3364G>T (p.Gly1122Cys)
c.*3069G>T (n.*3069G>T)
n.3215G>T
c.*3147G>T (n.*3147G>T)
n.306G>T
c.3454G>T (p.Gly1152Cys)
c.3412G>T (p.Gly1138Cys)
c.3676G>T (p.Gly1226Cys)
c.3598G>T (p.Gly1200Cys)
c.3565G>T (p.Gly1189Cys)
c.3574G>T (p.Gly1192Cys)
c.2584G>T (p.Gly862Cys)
1g.154584940C>GCA342634723ADARc.3441G>C (n.3441G>C)
c.3577G>C (p.Gly1193Arg)
c.3430G>C (p.Gly1144Arg)
c.3199G>C (p.Gly1067Arg)
c.2662G>C (p.Gly888Arg)
c.3547G>C (p.Gly1183Arg)
n.2340G>C
c.3469G>C (p.Gly1157Arg)
n.3532G>C
c.*1022G>C (n.*1022G>C)
n.4283G>C
c.*713G>C (n.*713G>C)
c.*1779G>C (n.*1779G>C)
n.4408G>C
c.2605G>C (p.Gly869Arg)
c.3364G>C (p.Gly1122Arg)
c.*3069G>C (n.*3069G>C)
n.3215G>C
c.*3147G>C (n.*3147G>C)
n.306G>C
c.3454G>C (p.Gly1152Arg)
c.3412G>C (p.Gly1138Arg)
c.3676G>C (p.Gly1226Arg)
c.3598G>C (p.Gly1200Arg)
c.3565G>C (p.Gly1189Arg)
c.3574G>C (p.Gly1192Arg)
c.2584G>C (p.Gly862Arg)
 ClinVar
1g.154584940C>TCA342634724ADARc.3441G>A (n.3441G>A)
c.3577G>A (p.Gly1193Ser)
c.3430G>A (p.Gly1144Ser)
c.3199G>A (p.Gly1067Ser)
c.2662G>A (p.Gly888Ser)
c.3547G>A (p.Gly1183Ser)
n.2340G>A
c.3469G>A (p.Gly1157Ser)
n.3532G>A
c.*1022G>A (n.*1022G>A)
n.4283G>A
c.*713G>A (n.*713G>A)
c.*1779G>A (n.*1779G>A)
n.4408G>A
c.2605G>A (p.Gly869Ser)
c.3364G>A (p.Gly1122Ser)
c.*3069G>A (n.*3069G>A)
n.3215G>A
c.*3147G>A (n.*3147G>A)
n.306G>A
c.3454G>A (p.Gly1152Ser)
c.3412G>A (p.Gly1138Ser)
c.3676G>A (p.Gly1226Ser)
c.3598G>A (p.Gly1200Ser)
c.3565G>A (p.Gly1189Ser)
c.3574G>A (p.Gly1192Ser)
c.2584G>A (p.Gly862Ser)
1g.154584941A>CCA342634726ADARc.3440T>G (n.3440T>G)
c.3576T>G (p.Tyr1192Ter)
c.3429T>G (p.Tyr1143Ter)
c.3198T>G (p.Tyr1066Ter)
c.2661T>G (p.Tyr887Ter)
c.3546T>G (p.Tyr1182Ter)
n.2339T>G
c.3468T>G (p.Tyr1156Ter)
n.3531T>G
c.*1021T>G (n.*1021T>G)
n.4282T>G
c.*712T>G (n.*712T>G)
c.*1778T>G (n.*1778T>G)
n.4407T>G
c.2604T>G (p.Tyr868Ter)
c.3363T>G (p.Tyr1121Ter)
c.*3068T>G (n.*3068T>G)
n.3214T>G
c.*3146T>G (n.*3146T>G)
n.305T>G
c.3453T>G (p.Tyr1151Ter)
c.3411T>G (p.Tyr1137Ter)
c.3675T>G (p.Tyr1225Ter)
c.3597T>G (p.Tyr1199Ter)
c.3564T>G (p.Tyr1188Ter)
c.3573T>G (p.Tyr1191Ter)
c.2583T>G (p.Tyr861Ter)
1g.154584941A>GCA421231485ADARc.3440T>C (n.3440T>C)
c.3576T>C (p.Tyr1192=)
c.3429T>C (p.Tyr1143=)
c.3198T>C (p.Tyr1066=)
c.2661T>C (p.Tyr887=)
c.3546T>C (p.Tyr1182=)
n.2339T>C
c.3468T>C (p.Tyr1156=)
n.3531T>C
c.*1021T>C (n.*1021T>C)
n.4282T>C
c.*712T>C (n.*712T>C)
c.*1778T>C (n.*1778T>C)
n.4407T>C
c.2604T>C (p.Tyr868=)
c.3363T>C (p.Tyr1121=)
c.*3068T>C (n.*3068T>C)
n.3214T>C
c.*3146T>C (n.*3146T>C)
n.305T>C
c.3453T>C (p.Tyr1151=)
c.3411T>C (p.Tyr1137=)
c.3675T>C (p.Tyr1225=)
c.3597T>C (p.Tyr1199=)
c.3564T>C (p.Tyr1188=)
c.3573T>C (p.Tyr1191=)
c.2583T>C (p.Tyr861=)
 gnomAD v4
1g.154584941A>TCA342634725ADARc.3440T>A (n.3440T>A)
c.3576T>A (p.Tyr1192Ter)
c.3429T>A (p.Tyr1143Ter)
c.3198T>A (p.Tyr1066Ter)
c.2661T>A (p.Tyr887Ter)
c.3546T>A (p.Tyr1182Ter)
n.2339T>A
c.3468T>A (p.Tyr1156Ter)
n.3531T>A
c.*1021T>A (n.*1021T>A)
n.4282T>A
c.*712T>A (n.*712T>A)
c.*1778T>A (n.*1778T>A)
n.4407T>A
c.2604T>A (p.Tyr868Ter)
c.3363T>A (p.Tyr1121Ter)
c.*3068T>A (n.*3068T>A)
n.3214T>A
c.*3146T>A (n.*3146T>A)
n.305T>A
c.3453T>A (p.Tyr1151Ter)
c.3411T>A (p.Tyr1137Ter)
c.3675T>A (p.Tyr1225Ter)
c.3597T>A (p.Tyr1199Ter)
c.3564T>A (p.Tyr1188Ter)
c.3573T>A (p.Tyr1191Ter)
c.2583T>A (p.Tyr861Ter)
1g.154584942T>ACA342634727ADARc.3439A>T (n.3439A>T)
c.3575A>T (p.Tyr1192Phe)
c.3428A>T (p.Tyr1143Phe)
c.3197A>T (p.Tyr1066Phe)
c.2660A>T (p.Tyr887Phe)
c.3545A>T (p.Tyr1182Phe)
n.2338A>T
c.3467A>T (p.Tyr1156Phe)
n.3530A>T
c.*1020A>T (n.*1020A>T)
n.4281A>T
c.*711A>T (n.*711A>T)
c.*1777A>T (n.*1777A>T)
n.4406A>T
c.2603A>T (p.Tyr868Phe)
c.3362A>T (p.Tyr1121Phe)
c.*3067A>T (n.*3067A>T)
n.3213A>T
c.*3145A>T (n.*3145A>T)
n.304A>T
c.3452A>T (p.Tyr1151Phe)
c.3410A>T (p.Tyr1137Phe)
c.3674A>T (p.Tyr1225Phe)
c.3596A>T (p.Tyr1199Phe)
c.3563A>T (p.Tyr1188Phe)
c.3572A>T (p.Tyr1191Phe)
c.2582A>T (p.Tyr861Phe)
1g.154584942T>CCA30848629ADARc.3439A>G (n.3439A>G)
c.3575A>G (p.Tyr1192Cys)
c.3428A>G (p.Tyr1143Cys)
c.3197A>G (p.Tyr1066Cys)
c.2660A>G (p.Tyr887Cys)
c.3545A>G (p.Tyr1182Cys)
n.2338A>G
c.3467A>G (p.Tyr1156Cys)
n.3530A>G
c.*1020A>G (n.*1020A>G)
n.4281A>G
c.*711A>G (n.*711A>G)
c.*1777A>G (n.*1777A>G)
n.4406A>G
c.2603A>G (p.Tyr868Cys)
c.3362A>G (p.Tyr1121Cys)
c.*3067A>G (n.*3067A>G)
n.3213A>G
c.*3145A>G (n.*3145A>G)
n.304A>G
c.3452A>G (p.Tyr1151Cys)
c.3410A>G (p.Tyr1137Cys)
c.3674A>G (p.Tyr1225Cys)
c.3596A>G (p.Tyr1199Cys)
c.3563A>G (p.Tyr1188Cys)
c.3572A>G (p.Tyr1191Cys)
c.2582A>G (p.Tyr861Cys)
 dbSNP
1g.154584942T>GCA342634728ADARc.3439A>C (n.3439A>C)
c.3575A>C (p.Tyr1192Ser)
c.3428A>C (p.Tyr1143Ser)
c.3197A>C (p.Tyr1066Ser)
c.2660A>C (p.Tyr887Ser)
c.3545A>C (p.Tyr1182Ser)
n.2338A>C
c.3467A>C (p.Tyr1156Ser)
n.3530A>C
c.*1020A>C (n.*1020A>C)
n.4281A>C
c.*711A>C (n.*711A>C)
c.*1777A>C (n.*1777A>C)
n.4406A>C
c.2603A>C (p.Tyr868Ser)
c.3362A>C (p.Tyr1121Ser)
c.*3067A>C (n.*3067A>C)
n.3213A>C
c.*3145A>C (n.*3145A>C)
n.304A>C
c.3452A>C (p.Tyr1151Ser)
c.3410A>C (p.Tyr1137Ser)
c.3674A>C (p.Tyr1225Ser)
c.3596A>C (p.Tyr1199Ser)
c.3563A>C (p.Tyr1188Ser)
c.3572A>C (p.Tyr1191Ser)
c.2582A>C (p.Tyr861Ser)
1g.154584942T=CA2480931207ADARc.3439A= (n.3439A=)
c.3575A= (p.Tyr1192=)
c.3428A= (p.Tyr1143=)
c.3197A= (p.Tyr1066=)
c.2660A= (p.Tyr887=)
c.3545A= (p.Tyr1182=)
n.2338A=
c.3467A= (p.Tyr1156=)
n.3530A=
c.*1020A= (n.*1020A=)
n.4281A=
c.*711A= (n.*711A=)
c.*1777A= (n.*1777A=)
n.4406A=
c.2603A= (p.Tyr868=)
c.3362A= (p.Tyr1121=)
c.*3067A= (n.*3067A=)
n.3213A=
c.*3145A= (n.*3145A=)
n.304A=
c.3452A= (p.Tyr1151=)
c.3410A= (p.Tyr1137=)
c.3674A= (p.Tyr1225=)
c.3596A= (p.Tyr1199=)
c.3563A= (p.Tyr1188=)
c.3572A= (p.Tyr1191=)
c.2582A= (p.Tyr861=)
1g.154584943A>CCA342634729ADARc.3438T>G (n.3438T>G)
c.3574T>G (p.Tyr1192Asp)
c.3427T>G (p.Tyr1143Asp)
c.3196T>G (p.Tyr1066Asp)
c.2659T>G (p.Tyr887Asp)
c.3544T>G (p.Tyr1182Asp)
n.2337T>G
c.3466T>G (p.Tyr1156Asp)
n.3529T>G
c.*1019T>G (n.*1019T>G)
n.4280T>G
c.*710T>G (n.*710T>G)
c.*1776T>G (n.*1776T>G)
n.4405T>G
c.2602T>G (p.Tyr868Asp)
c.3361T>G (p.Tyr1121Asp)
c.*3066T>G (n.*3066T>G)
n.3212T>G
c.*3144T>G (n.*3144T>G)
n.303T>G
c.3451T>G (p.Tyr1151Asp)
c.3409T>G (p.Tyr1137Asp)
c.3673T>G (p.Tyr1225Asp)
c.3595T>G (p.Tyr1199Asp)
c.3562T>G (p.Tyr1188Asp)
c.3571T>G (p.Tyr1191Asp)
c.2581T>G (p.Tyr861Asp)
1g.154584943A>GCA342634730ADARc.3438T>C (n.3438T>C)
c.3574T>C (p.Tyr1192His)
c.3427T>C (p.Tyr1143His)
c.3196T>C (p.Tyr1066His)
c.2659T>C (p.Tyr887His)
c.3544T>C (p.Tyr1182His)
n.2337T>C
c.3466T>C (p.Tyr1156His)
n.3529T>C
c.*1019T>C (n.*1019T>C)
n.4280T>C
c.*710T>C (n.*710T>C)
c.*1776T>C (n.*1776T>C)
n.4405T>C
c.2602T>C (p.Tyr868His)
c.3361T>C (p.Tyr1121His)
c.*3066T>C (n.*3066T>C)
n.3212T>C
c.*3144T>C (n.*3144T>C)
n.303T>C
c.3451T>C (p.Tyr1151His)
c.3409T>C (p.Tyr1137His)
c.3673T>C (p.Tyr1225His)
c.3595T>C (p.Tyr1199His)
c.3562T>C (p.Tyr1188His)
c.3571T>C (p.Tyr1191His)
c.2581T>C (p.Tyr861His)
1g.154584943A>TCA342634731ADARc.3438T>A (n.3438T>A)
c.3574T>A (p.Tyr1192Asn)
c.3427T>A (p.Tyr1143Asn)
c.3196T>A (p.Tyr1066Asn)
c.2659T>A (p.Tyr887Asn)
c.3544T>A (p.Tyr1182Asn)
n.2337T>A
c.3466T>A (p.Tyr1156Asn)
n.3529T>A
c.*1019T>A (n.*1019T>A)
n.4280T>A
c.*710T>A (n.*710T>A)
c.*1776T>A (n.*1776T>A)
n.4405T>A
c.2602T>A (p.Tyr868Asn)
c.3361T>A (p.Tyr1121Asn)
c.*3066T>A (n.*3066T>A)
n.3212T>A
c.*3144T>A (n.*3144T>A)
n.303T>A
c.3451T>A (p.Tyr1151Asn)
c.3409T>A (p.Tyr1137Asn)
c.3673T>A (p.Tyr1225Asn)
c.3595T>A (p.Tyr1199Asn)
c.3562T>A (p.Tyr1188Asn)
c.3571T>A (p.Tyr1191Asn)
c.2581T>A (p.Tyr861Asn)
1g.154584944G>ACA421231488ADARc.3437C>T (n.3437C>T)
c.3573C>T (p.Ser1191=)
c.3426C>T (p.Ser1142=)
c.3195C>T (p.Ser1065=)
c.2658C>T (p.Ser886=)
c.3543C>T (p.Ser1181=)
n.2336C>T
c.3465C>T (p.Ser1155=)
n.3528C>T
c.*1018C>T (n.*1018C>T)
n.4279C>T
c.*709C>T (n.*709C>T)
c.*1775C>T (n.*1775C>T)
n.4404C>T
c.2601C>T (p.Ser867=)
c.3360C>T (p.Ser1120=)
c.*3065C>T (n.*3065C>T)
n.3211C>T
c.*3143C>T (n.*3143C>T)
n.302C>T
c.3450C>T (p.Ser1150=)
c.3408C>T (p.Ser1136=)
c.3672C>T (p.Ser1224=)
c.3594C>T (p.Ser1198=)
c.3561C>T (p.Ser1187=)
c.3570C>T (p.Ser1190=)
c.2580C>T (p.Ser860=)
1g.154584944G>CCA421231489ADARc.3437C>G (n.3437C>G)
c.3573C>G (p.Ser1191=)
c.3426C>G (p.Ser1142=)
c.3195C>G (p.Ser1065=)
c.2658C>G (p.Ser886=)
c.3543C>G (p.Ser1181=)
n.2336C>G
c.3465C>G (p.Ser1155=)
n.3528C>G
c.*1018C>G (n.*1018C>G)
n.4279C>G
c.*709C>G (n.*709C>G)
c.*1775C>G (n.*1775C>G)
n.4404C>G
c.2601C>G (p.Ser867=)
c.3360C>G (p.Ser1120=)
c.*3065C>G (n.*3065C>G)
n.3211C>G
c.*3143C>G (n.*3143C>G)
n.302C>G
c.3450C>G (p.Ser1150=)
c.3408C>G (p.Ser1136=)
c.3672C>G (p.Ser1224=)
c.3594C>G (p.Ser1198=)
c.3561C>G (p.Ser1187=)
c.3570C>G (p.Ser1190=)
c.2580C>G (p.Ser860=)
1g.154584944G>TCA421231490ADARc.3437C>A (n.3437C>A)
c.3573C>A (p.Ser1191=)
c.3426C>A (p.Ser1142=)
c.3195C>A (p.Ser1065=)
c.2658C>A (p.Ser886=)
c.3543C>A (p.Ser1181=)
n.2336C>A
c.3465C>A (p.Ser1155=)
n.3528C>A
c.*1018C>A (n.*1018C>A)
n.4279C>A
c.*709C>A (n.*709C>A)
c.*1775C>A (n.*1775C>A)
n.4404C>A
c.2601C>A (p.Ser867=)
c.3360C>A (p.Ser1120=)
c.*3065C>A (n.*3065C>A)
n.3211C>A
c.*3143C>A (n.*3143C>A)
n.302C>A
c.3450C>A (p.Ser1150=)
c.3408C>A (p.Ser1136=)
c.3672C>A (p.Ser1224=)
c.3594C>A (p.Ser1198=)
c.3561C>A (p.Ser1187=)
c.3570C>A (p.Ser1190=)
c.2580C>A (p.Ser860=)
1g.154584945delCA2580061112ADARc.3437del (n.3437del)
c.3573del (p.Tyr1192MetfsTer22)
c.3426del (p.Tyr1143MetfsTer22)
c.3195del (p.Tyr1066MetfsTer22)
c.2658del (p.Tyr887MetfsTer22)
c.3543del (p.Tyr1182MetfsTer22)
n.2336del
c.3465del (p.Tyr1156MetfsTer22)
n.3528del
c.*1018del (n.*1018del)
n.4279del
c.*709del (n.*709del)
c.*1775del (n.*1775del)
n.4404del
c.2601del (p.Tyr868MetfsTer22)
c.3360del (p.Tyr1121MetfsTer22)
c.*3065del (n.*3065del)
n.3211del
c.*3143del (n.*3143del)
n.302del
c.3450del (p.Tyr1151MetfsTer22)
c.3408del (p.Tyr1137MetfsTer22)
c.3672del (p.Tyr1225MetfsTer22)
c.3594del (p.Tyr1199MetfsTer22)
c.3561del (p.Tyr1188MetfsTer22)
c.3570del (p.Tyr1191MetfsTer22)
c.2580del (p.Tyr861MetfsTer22)
 ClinVar
1g.154584945G>ACA342634732ADARc.3436C>T (n.3436C>T)
c.3572C>T (p.Ser1191Phe)
c.3425C>T (p.Ser1142Phe)
c.3194C>T (p.Ser1065Phe)
c.2657C>T (p.Ser886Phe)
c.3542C>T (p.Ser1181Phe)
n.2335C>T
c.3464C>T (p.Ser1155Phe)
n.3527C>T
c.*1017C>T (n.*1017C>T)
n.4278C>T
c.*708C>T (n.*708C>T)
c.*1774C>T (n.*1774C>T)
n.4403C>T
c.2600C>T (p.Ser867Phe)
c.3359C>T (p.Ser1120Phe)
c.*3064C>T (n.*3064C>T)
n.3210C>T
c.*3142C>T (n.*3142C>T)
n.301C>T
c.3449C>T (p.Ser1150Phe)
c.3407C>T (p.Ser1136Phe)
c.3671C>T (p.Ser1224Phe)
c.3593C>T (p.Ser1198Phe)
c.3560C>T (p.Ser1187Phe)
c.3569C>T (p.Ser1190Phe)
c.2579C>T (p.Ser860Phe)
1g.154584945G>CCA342634733ADARc.3436C>G (n.3436C>G)
c.3572C>G (p.Ser1191Cys)
c.3425C>G (p.Ser1142Cys)
c.3194C>G (p.Ser1065Cys)
c.2657C>G (p.Ser886Cys)
c.3542C>G (p.Ser1181Cys)
n.2335C>G
c.3464C>G (p.Ser1155Cys)
n.3527C>G
c.*1017C>G (n.*1017C>G)
n.4278C>G
c.*708C>G (n.*708C>G)
c.*1774C>G (n.*1774C>G)
n.4403C>G
c.2600C>G (p.Ser867Cys)
c.3359C>G (p.Ser1120Cys)
c.*3064C>G (n.*3064C>G)
n.3210C>G
c.*3142C>G (n.*3142C>G)
n.301C>G
c.3449C>G (p.Ser1150Cys)
c.3407C>G (p.Ser1136Cys)
c.3671C>G (p.Ser1224Cys)
c.3593C>G (p.Ser1198Cys)
c.3560C>G (p.Ser1187Cys)
c.3569C>G (p.Ser1190Cys)
c.2579C>G (p.Ser860Cys)
1g.154584945G>TCA342634734ADARc.3436C>A (n.3436C>A)
c.3572C>A (p.Ser1191Tyr)
c.3425C>A (p.Ser1142Tyr)
c.3194C>A (p.Ser1065Tyr)
c.2657C>A (p.Ser886Tyr)
c.3542C>A (p.Ser1181Tyr)
n.2335C>A
c.3464C>A (p.Ser1155Tyr)
n.3527C>A
c.*1017C>A (n.*1017C>A)
n.4278C>A
c.*708C>A (n.*708C>A)
c.*1774C>A (n.*1774C>A)
n.4403C>A
c.2600C>A (p.Ser867Tyr)
c.3359C>A (p.Ser1120Tyr)
c.*3064C>A (n.*3064C>A)
n.3210C>A
c.*3142C>A (n.*3142C>A)
n.301C>A
c.3449C>A (p.Ser1150Tyr)
c.3407C>A (p.Ser1136Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3593C>A (p.Ser1198Tyr)
c.3560C>A (p.Ser1187Tyr)
c.3569C>A (p.Ser1190Tyr)
c.2579C>A (p.Ser860Tyr)
1g.154584946delCA2586967335ADARc.3435del (n.3435del)
c.3571del (p.Ser1191ProfsTer23)
c.3424del (p.Ser1142ProfsTer23)
c.3193del (p.Ser1065ProfsTer23)
c.2656del (p.Ser886ProfsTer23)
c.3541del (p.Ser1181ProfsTer23)
n.2334del
c.3463del (p.Ser1155ProfsTer23)
n.3526del
c.*1016del (n.*1016del)
n.4277del
c.*707del (n.*707del)
c.*1773del (n.*1773del)
n.4402del
c.2599del (p.Ser867ProfsTer23)
c.3358del (p.Ser1120ProfsTer23)
c.*3063del (n.*3063del)
n.3209del
c.*3141del (n.*3141del)
n.300del
c.3448del (p.Ser1150ProfsTer23)
c.3406del (p.Ser1136ProfsTer23)
c.3670del (p.Ser1224ProfsTer23)
c.3592del (p.Ser1198ProfsTer23)
c.3559del (p.Ser1187ProfsTer23)
c.3568del (p.Ser1190ProfsTer23)
c.2578del (p.Ser860ProfsTer23)
1g.154584946A=CA1143983933ADARc.3435T= (n.3435T=)
c.3571T= (p.Ser1191=)
c.3424T= (p.Ser1142=)
c.3193T= (p.Ser1065=)
c.2656T= (p.Ser886=)
c.3541T= (p.Ser1181=)
n.2334T=
c.3463T= (p.Ser1155=)
n.3526T=
c.*1016T= (n.*1016T=)
n.4277T=
c.*707T= (n.*707T=)
c.*1773T= (n.*1773T=)
n.4402T=
c.2599T= (p.Ser867=)
c.3358T= (p.Ser1120=)
c.*3063T= (n.*3063T=)
n.3209T=
c.*3141T= (n.*3141T=)
n.300T=
c.3448T= (p.Ser1150=)
c.3406T= (p.Ser1136=)
c.3670T= (p.Ser1224=)
c.3592T= (p.Ser1198=)
c.3559T= (p.Ser1187=)
c.3568T= (p.Ser1190=)
c.2578T= (p.Ser860=)
1g.154584946A>CCA342634735ADARc.3435T>G (n.3435T>G)
c.3571T>G (p.Ser1191Ala)
c.3424T>G (p.Ser1142Ala)
c.3193T>G (p.Ser1065Ala)
c.2656T>G (p.Ser886Ala)
c.3541T>G (p.Ser1181Ala)
n.2334T>G
c.3463T>G (p.Ser1155Ala)
n.3526T>G
c.*1016T>G (n.*1016T>G)
n.4277T>G
c.*707T>G (n.*707T>G)
c.*1773T>G (n.*1773T>G)
n.4402T>G
c.2599T>G (p.Ser867Ala)
c.3358T>G (p.Ser1120Ala)
c.*3063T>G (n.*3063T>G)
n.3209T>G
c.*3141T>G (n.*3141T>G)
n.300T>G
c.3448T>G (p.Ser1150Ala)
c.3406T>G (p.Ser1136Ala)
c.3670T>G (p.Ser1224Ala)
c.3592T>G (p.Ser1198Ala)
c.3559T>G (p.Ser1187Ala)
c.3568T>G (p.Ser1190Ala)
c.2578T>G (p.Ser860Ala)
1g.154584946A>GCA30848642ADARc.3435T>C (n.3435T>C)
c.3571T>C (p.Ser1191Pro)
c.3424T>C (p.Ser1142Pro)
c.3193T>C (p.Ser1065Pro)
c.2656T>C (p.Ser886Pro)
c.3541T>C (p.Ser1181Pro)
n.2334T>C
c.3463T>C (p.Ser1155Pro)
n.3526T>C
c.*1016T>C (n.*1016T>C)
n.4277T>C
c.*707T>C (n.*707T>C)
c.*1773T>C (n.*1773T>C)
n.4402T>C
c.2599T>C (p.Ser867Pro)
c.3358T>C (p.Ser1120Pro)
c.*3063T>C (n.*3063T>C)
n.3209T>C
c.*3141T>C (n.*3141T>C)
n.300T>C
c.3448T>C (p.Ser1150Pro)
c.3406T>C (p.Ser1136Pro)
c.3670T>C (p.Ser1224Pro)
c.3592T>C (p.Ser1198Pro)
c.3559T>C (p.Ser1187Pro)
c.3568T>C (p.Ser1190Pro)
c.2578T>C (p.Ser860Pro)
 ClinVar dbSNP gnomAD v4
1g.154584946A>TCA342634736ADARc.3435T>A (n.3435T>A)
c.3571T>A (p.Ser1191Thr)
c.3424T>A (p.Ser1142Thr)
c.3193T>A (p.Ser1065Thr)
c.2656T>A (p.Ser886Thr)
c.3541T>A (p.Ser1181Thr)
n.2334T>A
c.3463T>A (p.Ser1155Thr)
n.3526T>A
c.*1016T>A (n.*1016T>A)
n.4277T>A
c.*707T>A (n.*707T>A)
c.*1773T>A (n.*1773T>A)
n.4402T>A
c.2599T>A (p.Ser867Thr)
c.3358T>A (p.Ser1120Thr)
c.*3063T>A (n.*3063T>A)
n.3209T>A
c.*3141T>A (n.*3141T>A)
n.300T>A
c.3448T>A (p.Ser1150Thr)
c.3406T>A (p.Ser1136Thr)
c.3670T>A (p.Ser1224Thr)
c.3592T>A (p.Ser1198Thr)
c.3559T>A (p.Ser1187Thr)
c.3568T>A (p.Ser1190Thr)
c.2578T>A (p.Ser860Thr)
1g.154584947G>ACA1130923ADARc.3434C>T (n.3434C>T)
c.3570C>T (p.Leu1190=)
c.3423C>T (p.Leu1141=)
c.3192C>T (p.Leu1064=)
c.2655C>T (p.Leu885=)
c.3540C>T (p.Leu1180=)
n.2333C>T
c.3462C>T (p.Leu1154=)
n.3525C>T
c.*1015C>T (n.*1015C>T)
n.4276C>T
c.*706C>T (n.*706C>T)
c.*1772C>T (n.*1772C>T)
n.4401C>T
c.2598C>T (p.Leu866=)
c.3357C>T (p.Leu1119=)
c.*3062C>T (n.*3062C>T)
n.3208C>T
c.*3140C>T (n.*3140C>T)
n.299C>T
c.3447C>T (p.Leu1149=)
c.3405C>T (p.Leu1135=)
c.3669C>T (p.Leu1223=)
c.3591C>T (p.Leu1197=)
c.3558C>T (p.Leu1186=)
c.3567C>T (p.Leu1189=)
c.2577C>T (p.Leu859=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584947G>CCA421231491ADARc.3434C>G (n.3434C>G)
c.3570C>G (p.Leu1190=)
c.3423C>G (p.Leu1141=)
c.3192C>G (p.Leu1064=)
c.2655C>G (p.Leu885=)
c.3540C>G (p.Leu1180=)
n.2333C>G
c.3462C>G (p.Leu1154=)
n.3525C>G
c.*1015C>G (n.*1015C>G)
n.4276C>G
c.*706C>G (n.*706C>G)
c.*1772C>G (n.*1772C>G)
n.4401C>G
c.2598C>G (p.Leu866=)
c.3357C>G (p.Leu1119=)
c.*3062C>G (n.*3062C>G)
n.3208C>G
c.*3140C>G (n.*3140C>G)
n.299C>G
c.3447C>G (p.Leu1149=)
c.3405C>G (p.Leu1135=)
c.3669C>G (p.Leu1223=)
c.3591C>G (p.Leu1197=)
c.3558C>G (p.Leu1186=)
c.3567C>G (p.Leu1189=)
c.2577C>G (p.Leu859=)
1g.154584947G=CA1143596632ADARc.3434C= (n.3434C=)
c.3570C= (p.Leu1190=)
c.3423C= (p.Leu1141=)
c.3192C= (p.Leu1064=)
c.2655C= (p.Leu885=)
c.3540C= (p.Leu1180=)
n.2333C=
c.3462C= (p.Leu1154=)
n.3525C=
c.*1015C= (n.*1015C=)
n.4276C=
c.*706C= (n.*706C=)
c.*1772C= (n.*1772C=)
n.4401C=
c.2598C= (p.Leu866=)
c.3357C= (p.Leu1119=)
c.*3062C= (n.*3062C=)
n.3208C=
c.*3140C= (n.*3140C=)
n.299C=
c.3447C= (p.Leu1149=)
c.3405C= (p.Leu1135=)
c.3669C= (p.Leu1223=)
c.3591C= (p.Leu1197=)
c.3558C= (p.Leu1186=)
c.3567C= (p.Leu1189=)
c.2577C= (p.Leu859=)
1g.154584947G>TCA421231492ADARc.3434C>A (n.3434C>A)
c.3570C>A (p.Leu1190=)
c.3423C>A (p.Leu1141=)
c.3192C>A (p.Leu1064=)
c.2655C>A (p.Leu885=)
c.3540C>A (p.Leu1180=)
n.2333C>A
c.3462C>A (p.Leu1154=)
n.3525C>A
c.*1015C>A (n.*1015C>A)
n.4276C>A
c.*706C>A (n.*706C>A)
c.*1772C>A (n.*1772C>A)
n.4401C>A
c.2598C>A (p.Leu866=)
c.3357C>A (p.Leu1119=)
c.*3062C>A (n.*3062C>A)
n.3208C>A
c.*3140C>A (n.*3140C>A)
n.299C>A
c.3447C>A (p.Leu1149=)
c.3405C>A (p.Leu1135=)
c.3669C>A (p.Leu1223=)
c.3591C>A (p.Leu1197=)
c.3558C>A (p.Leu1186=)
c.3567C>A (p.Leu1189=)
c.2577C>A (p.Leu859=)
1g.154584948A>CCA342634739ADARc.3433T>G (n.3433T>G)
c.3569T>G (p.Leu1190Arg)
c.3422T>G (p.Leu1141Arg)
c.3191T>G (p.Leu1064Arg)
c.2654T>G (p.Leu885Arg)
c.3539T>G (p.Leu1180Arg)
n.2332T>G
c.3461T>G (p.Leu1154Arg)
n.3524T>G
c.*1014T>G (n.*1014T>G)
n.4275T>G
c.*705T>G (n.*705T>G)
c.*1771T>G (n.*1771T>G)
n.4400T>G
c.2597T>G (p.Leu866Arg)
c.3356T>G (p.Leu1119Arg)
c.*3061T>G (n.*3061T>G)
n.3207T>G
c.*3139T>G (n.*3139T>G)
n.298T>G
c.3446T>G (p.Leu1149Arg)
c.3404T>G (p.Leu1135Arg)
c.3668T>G (p.Leu1223Arg)
c.3590T>G (p.Leu1197Arg)
c.3557T>G (p.Leu1186Arg)
c.3566T>G (p.Leu1189Arg)
c.2576T>G (p.Leu859Arg)
1g.154584948A>GCA342634737ADARc.3433T>C (n.3433T>C)
c.3569T>C (p.Leu1190Pro)
c.3422T>C (p.Leu1141Pro)
c.3191T>C (p.Leu1064Pro)
c.2654T>C (p.Leu885Pro)
c.3539T>C (p.Leu1180Pro)
n.2332T>C
c.3461T>C (p.Leu1154Pro)
n.3524T>C
c.*1014T>C (n.*1014T>C)
n.4275T>C
c.*705T>C (n.*705T>C)
c.*1771T>C (n.*1771T>C)
n.4400T>C
c.2597T>C (p.Leu866Pro)
c.3356T>C (p.Leu1119Pro)
c.*3061T>C (n.*3061T>C)
n.3207T>C
c.*3139T>C (n.*3139T>C)
n.298T>C
c.3446T>C (p.Leu1149Pro)
c.3404T>C (p.Leu1135Pro)
c.3668T>C (p.Leu1223Pro)
c.3590T>C (p.Leu1197Pro)
c.3557T>C (p.Leu1186Pro)
c.3566T>C (p.Leu1189Pro)
c.2576T>C (p.Leu859Pro)
1g.154584948A>TCA342634738ADARc.3433T>A (n.3433T>A)
c.3569T>A (p.Leu1190His)
c.3422T>A (p.Leu1141His)
c.3191T>A (p.Leu1064His)
c.2654T>A (p.Leu885His)
c.3539T>A (p.Leu1180His)
n.2332T>A
c.3461T>A (p.Leu1154His)
n.3524T>A
c.*1014T>A (n.*1014T>A)
n.4275T>A
c.*705T>A (n.*705T>A)
c.*1771T>A (n.*1771T>A)
n.4400T>A
c.2597T>A (p.Leu866His)
c.3356T>A (p.Leu1119His)
c.*3061T>A (n.*3061T>A)
n.3207T>A
c.*3139T>A (n.*3139T>A)
n.298T>A
c.3446T>A (p.Leu1149His)
c.3404T>A (p.Leu1135His)
c.3668T>A (p.Leu1223His)
c.3590T>A (p.Leu1197His)
c.3557T>A (p.Leu1186His)
c.3566T>A (p.Leu1189His)
c.2576T>A (p.Leu859His)
 gnomAD v4
1g.154584949G>ACA342634740ADARc.3432C>T (n.3432C>T)
c.3568C>T (p.Leu1190Phe)
c.3421C>T (p.Leu1141Phe)
c.3190C>T (p.Leu1064Phe)
c.2653C>T (p.Leu885Phe)
c.3538C>T (p.Leu1180Phe)
n.2331C>T
c.3460C>T (p.Leu1154Phe)
n.3523C>T
c.*1013C>T (n.*1013C>T)
n.4274C>T
c.*704C>T (n.*704C>T)
c.*1770C>T (n.*1770C>T)
n.4399C>T
c.2596C>T (p.Leu866Phe)
c.3355C>T (p.Leu1119Phe)
c.*3060C>T (n.*3060C>T)
n.3206C>T
c.*3138C>T (n.*3138C>T)
n.297C>T
c.3445C>T (p.Leu1149Phe)
c.3403C>T (p.Leu1135Phe)
c.3667C>T (p.Leu1223Phe)
c.3589C>T (p.Leu1197Phe)
c.3556C>T (p.Leu1186Phe)
c.3565C>T (p.Leu1189Phe)
c.2575C>T (p.Leu859Phe)
 dbSNP gnomAD v4
1g.154584949G>CCA342634741ADARc.3432C>G (n.3432C>G)
c.3568C>G (p.Leu1190Val)
c.3421C>G (p.Leu1141Val)
c.3190C>G (p.Leu1064Val)
c.2653C>G (p.Leu885Val)
c.3538C>G (p.Leu1180Val)
n.2331C>G
c.3460C>G (p.Leu1154Val)
n.3523C>G
c.*1013C>G (n.*1013C>G)
n.4274C>G
c.*704C>G (n.*704C>G)
c.*1770C>G (n.*1770C>G)
n.4399C>G
c.2596C>G (p.Leu866Val)
c.3355C>G (p.Leu1119Val)
c.*3060C>G (n.*3060C>G)
n.3206C>G
c.*3138C>G (n.*3138C>G)
n.297C>G
c.3445C>G (p.Leu1149Val)
c.3403C>G (p.Leu1135Val)
c.3667C>G (p.Leu1223Val)
c.3589C>G (p.Leu1197Val)
c.3556C>G (p.Leu1186Val)
c.3565C>G (p.Leu1189Val)
c.2575C>G (p.Leu859Val)
 gnomAD v4
1g.154584949G=CA2480931208ADARc.3432C= (n.3432C=)
c.3568C= (p.Leu1190=)
c.3421C= (p.Leu1141=)
c.3190C= (p.Leu1064=)
c.2653C= (p.Leu885=)
c.3538C= (p.Leu1180=)
n.2331C=
c.3460C= (p.Leu1154=)
n.3523C=
c.*1013C= (n.*1013C=)
n.4274C=
c.*704C= (n.*704C=)
c.*1770C= (n.*1770C=)
n.4399C=
c.2596C= (p.Leu866=)
c.3355C= (p.Leu1119=)
c.*3060C= (n.*3060C=)
n.3206C=
c.*3138C= (n.*3138C=)
n.297C=
c.3445C= (p.Leu1149=)
c.3403C= (p.Leu1135=)
c.3667C= (p.Leu1223=)
c.3589C= (p.Leu1197=)
c.3556C= (p.Leu1186=)
c.3565C= (p.Leu1189=)
c.2575C= (p.Leu859=)
1g.154584949G>TCA342634742ADARc.3432C>A (n.3432C>A)
c.3568C>A (p.Leu1190Ile)
c.3421C>A (p.Leu1141Ile)
c.3190C>A (p.Leu1064Ile)
c.2653C>A (p.Leu885Ile)
c.3538C>A (p.Leu1180Ile)
n.2331C>A
c.3460C>A (p.Leu1154Ile)
n.3523C>A
c.*1013C>A (n.*1013C>A)
n.4274C>A
c.*704C>A (n.*704C>A)
c.*1770C>A (n.*1770C>A)
n.4399C>A
c.2596C>A (p.Leu866Ile)
c.3355C>A (p.Leu1119Ile)
c.*3060C>A (n.*3060C>A)
n.3206C>A
c.*3138C>A (n.*3138C>A)
n.297C>A
c.3445C>A (p.Leu1149Ile)
c.3403C>A (p.Leu1135Ile)
c.3667C>A (p.Leu1223Ile)
c.3589C>A (p.Leu1197Ile)
c.3556C>A (p.Leu1186Ile)
c.3565C>A (p.Leu1189Ile)
c.2575C>A (p.Leu859Ile)
1g.154584950T>ACA342634743ADARc.3431A>T (n.3431A>T)
c.3567A>T (p.Arg1189Ser)
c.3420A>T (p.Arg1140Ser)
c.3189A>T (p.Arg1063Ser)
c.2652A>T (p.Arg884Ser)
c.3537A>T (p.Arg1179Ser)
n.2330A>T
c.3459A>T (p.Arg1153Ser)
n.3522A>T
c.*1012A>T (n.*1012A>T)
n.4273A>T
c.*703A>T (n.*703A>T)
c.*1769A>T (n.*1769A>T)
n.4398A>T
c.2595A>T (p.Arg865Ser)
c.3354A>T (p.Arg1118Ser)
c.*3059A>T (n.*3059A>T)
n.3205A>T
c.*3137A>T (n.*3137A>T)
n.296A>T
c.3444A>T (p.Arg1148Ser)
c.3402A>T (p.Arg1134Ser)
c.3666A>T (p.Arg1222Ser)
c.3588A>T (p.Arg1196Ser)
c.3555A>T (p.Arg1185Ser)
c.3564A>T (p.Arg1188Ser)
c.2574A>T (p.Arg858Ser)
1g.154584950T>CCA421231495ADARc.3431A>G (n.3431A>G)
c.3567A>G (p.Arg1189=)
c.3420A>G (p.Arg1140=)
c.3189A>G (p.Arg1063=)
c.2652A>G (p.Arg884=)
c.3537A>G (p.Arg1179=)
n.2330A>G
c.3459A>G (p.Arg1153=)
n.3522A>G
c.*1012A>G (n.*1012A>G)
n.4273A>G
c.*703A>G (n.*703A>G)
c.*1769A>G (n.*1769A>G)
n.4398A>G
c.2595A>G (p.Arg865=)
c.3354A>G (p.Arg1118=)
c.*3059A>G (n.*3059A>G)
n.3205A>G
c.*3137A>G (n.*3137A>G)
n.296A>G
c.3444A>G (p.Arg1148=)
c.3402A>G (p.Arg1134=)
c.3666A>G (p.Arg1222=)
c.3588A>G (p.Arg1196=)
c.3555A>G (p.Arg1185=)
c.3564A>G (p.Arg1188=)
c.2574A>G (p.Arg858=)
 dbSNP gnomAD v3 gnomAD v4
1g.154584950T>GCA342634744ADARc.3431A>C (n.3431A>C)
c.3567A>C (p.Arg1189Ser)
c.3420A>C (p.Arg1140Ser)
c.3189A>C (p.Arg1063Ser)
c.2652A>C (p.Arg884Ser)
c.3537A>C (p.Arg1179Ser)
n.2330A>C
c.3459A>C (p.Arg1153Ser)
n.3522A>C
c.*1012A>C (n.*1012A>C)
n.4273A>C
c.*703A>C (n.*703A>C)
c.*1769A>C (n.*1769A>C)
n.4398A>C
c.2595A>C (p.Arg865Ser)
c.3354A>C (p.Arg1118Ser)
c.*3059A>C (n.*3059A>C)
n.3205A>C
c.*3137A>C (n.*3137A>C)
n.296A>C
c.3444A>C (p.Arg1148Ser)
c.3402A>C (p.Arg1134Ser)
c.3666A>C (p.Arg1222Ser)
c.3588A>C (p.Arg1196Ser)
c.3555A>C (p.Arg1185Ser)
c.3564A>C (p.Arg1188Ser)
c.2574A>C (p.Arg858Ser)
1g.154584950T=CA2480931209ADARc.3431A= (n.3431A=)
c.3567A= (p.Arg1189=)
c.3420A= (p.Arg1140=)
c.3189A= (p.Arg1063=)
c.2652A= (p.Arg884=)
c.3537A= (p.Arg1179=)
n.2330A=
c.3459A= (p.Arg1153=)
n.3522A=
c.*1012A= (n.*1012A=)
n.4273A=
c.*703A= (n.*703A=)
c.*1769A= (n.*1769A=)
n.4398A=
c.2595A= (p.Arg865=)
c.3354A= (p.Arg1118=)
c.*3059A= (n.*3059A=)
n.3205A=
c.*3137A= (n.*3137A=)
n.296A=
c.3444A= (p.Arg1148=)
c.3402A= (p.Arg1134=)
c.3666A= (p.Arg1222=)
c.3588A= (p.Arg1196=)
c.3555A= (p.Arg1185=)
c.3564A= (p.Arg1188=)
c.2574A= (p.Arg858=)
1g.154584951C>ACA342634745ADARc.3430G>T (n.3430G>T)
c.3566G>T (p.Arg1189Ile)
c.3419G>T (p.Arg1140Ile)
c.3188G>T (p.Arg1063Ile)
c.2651G>T (p.Arg884Ile)
c.3536G>T (p.Arg1179Ile)
n.2329G>T
c.3458G>T (p.Arg1153Ile)
n.3521G>T
c.*1011G>T (n.*1011G>T)
n.4272G>T
c.*702G>T (n.*702G>T)
c.*1768G>T (n.*1768G>T)
n.4397G>T
c.2594G>T (p.Arg865Ile)
c.3353G>T (p.Arg1118Ile)
c.*3058G>T (n.*3058G>T)
n.3204G>T
c.*3136G>T (n.*3136G>T)
n.295G>T
c.3443G>T (p.Arg1148Ile)
c.3401G>T (p.Arg1134Ile)
c.3665G>T (p.Arg1222Ile)
c.3587G>T (p.Arg1196Ile)
c.3554G>T (p.Arg1185Ile)
c.3563G>T (p.Arg1188Ile)
c.2573G>T (p.Arg858Ile)
1g.154584951C>GCA342634746ADARc.3430G>C (n.3430G>C)
c.3566G>C (p.Arg1189Thr)
c.3419G>C (p.Arg1140Thr)
c.3188G>C (p.Arg1063Thr)
c.2651G>C (p.Arg884Thr)
c.3536G>C (p.Arg1179Thr)
n.2329G>C
c.3458G>C (p.Arg1153Thr)
n.3521G>C
c.*1011G>C (n.*1011G>C)
n.4272G>C
c.*702G>C (n.*702G>C)
c.*1768G>C (n.*1768G>C)
n.4397G>C
c.2594G>C (p.Arg865Thr)
c.3353G>C (p.Arg1118Thr)
c.*3058G>C (n.*3058G>C)
n.3204G>C
c.*3136G>C (n.*3136G>C)
n.295G>C
c.3443G>C (p.Arg1148Thr)
c.3401G>C (p.Arg1134Thr)
c.3665G>C (p.Arg1222Thr)
c.3587G>C (p.Arg1196Thr)
c.3554G>C (p.Arg1185Thr)
c.3563G>C (p.Arg1188Thr)
c.2573G>C (p.Arg858Thr)
1g.154584951C>TCA342634747ADARc.3430G>A (n.3430G>A)
c.3566G>A (p.Arg1189Lys)
c.3419G>A (p.Arg1140Lys)
c.3188G>A (p.Arg1063Lys)
c.2651G>A (p.Arg884Lys)
c.3536G>A (p.Arg1179Lys)
n.2329G>A
c.3458G>A (p.Arg1153Lys)
n.3521G>A
c.*1011G>A (n.*1011G>A)
n.4272G>A
c.*702G>A (n.*702G>A)
c.*1768G>A (n.*1768G>A)
n.4397G>A
c.2594G>A (p.Arg865Lys)
c.3353G>A (p.Arg1118Lys)
c.*3058G>A (n.*3058G>A)
n.3204G>A
c.*3136G>A (n.*3136G>A)
n.295G>A
c.3443G>A (p.Arg1148Lys)
c.3401G>A (p.Arg1134Lys)
c.3665G>A (p.Arg1222Lys)
c.3587G>A (p.Arg1196Lys)
c.3554G>A (p.Arg1185Lys)
c.3563G>A (p.Arg1188Lys)
c.2573G>A (p.Arg858Lys)
1g.154584952T>ACA342634748ADARc.3429A>T (n.3429A>T)
c.3565A>T (p.Arg1189Ter)
c.3418A>T (p.Arg1140Ter)
c.3187A>T (p.Arg1063Ter)
c.2650A>T (p.Arg884Ter)
c.3535A>T (p.Arg1179Ter)
n.2328A>T
c.3457A>T (p.Arg1153Ter)
n.3520A>T
c.*1010A>T (n.*1010A>T)
n.4271A>T
c.*701A>T (n.*701A>T)
c.*1767A>T (n.*1767A>T)
n.4396A>T
c.2593A>T (p.Arg865Ter)
c.3352A>T (p.Arg1118Ter)
c.*3057A>T (n.*3057A>T)
n.3203A>T
c.*3135A>T (n.*3135A>T)
n.294A>T
c.3442A>T (p.Arg1148Ter)
c.3400A>T (p.Arg1134Ter)
c.3664A>T (p.Arg1222Ter)
c.3586A>T (p.Arg1196Ter)
c.3553A>T (p.Arg1185Ter)
c.3562A>T (p.Arg1188Ter)
c.2572A>T (p.Arg858Ter)
1g.154584952T>CCA342634749ADARc.3429A>G (n.3429A>G)
c.3565A>G (p.Arg1189Gly)
c.3418A>G (p.Arg1140Gly)
c.3187A>G (p.Arg1063Gly)
c.2650A>G (p.Arg884Gly)
c.3535A>G (p.Arg1179Gly)
n.2328A>G
c.3457A>G (p.Arg1153Gly)
n.3520A>G
c.*1010A>G (n.*1010A>G)
n.4271A>G
c.*701A>G (n.*701A>G)
c.*1767A>G (n.*1767A>G)
n.4396A>G
c.2593A>G (p.Arg865Gly)
c.3352A>G (p.Arg1118Gly)
c.*3057A>G (n.*3057A>G)
n.3203A>G
c.*3135A>G (n.*3135A>G)
n.294A>G
c.3442A>G (p.Arg1148Gly)
c.3400A>G (p.Arg1134Gly)
c.3664A>G (p.Arg1222Gly)
c.3586A>G (p.Arg1196Gly)
c.3553A>G (p.Arg1185Gly)
c.3562A>G (p.Arg1188Gly)
c.2572A>G (p.Arg858Gly)
1g.154584952T>GCA421231496ADARc.3429A>C (n.3429A>C)
c.3565A>C (p.Arg1189=)
c.3418A>C (p.Arg1140=)
c.3187A>C (p.Arg1063=)
c.2650A>C (p.Arg884=)
c.3535A>C (p.Arg1179=)
n.2328A>C
c.3457A>C (p.Arg1153=)
n.3520A>C
c.*1010A>C (n.*1010A>C)
n.4271A>C
c.*701A>C (n.*701A>C)
c.*1767A>C (n.*1767A>C)
n.4396A>C
c.2593A>C (p.Arg865=)
c.3352A>C (p.Arg1118=)
c.*3057A>C (n.*3057A>C)
n.3203A>C
c.*3135A>C (n.*3135A>C)
n.294A>C
c.3442A>C (p.Arg1148=)
c.3400A>C (p.Arg1134=)
c.3664A>C (p.Arg1222=)
c.3586A>C (p.Arg1196=)
c.3553A>C (p.Arg1185=)
c.3562A>C (p.Arg1188=)
c.2572A>C (p.Arg858=)
1g.154584953C>ACA421231497ADARc.3428G>T (n.3428G>T)
c.3564G>T (p.Leu1188=)
c.3417G>T (p.Leu1139=)
c.3186G>T (p.Leu1062=)
c.2649G>T (p.Leu883=)
c.3534G>T (p.Leu1178=)
n.2327G>T
c.3456G>T (p.Leu1152=)
n.3519G>T
c.*1009G>T (n.*1009G>T)
n.4270G>T
c.*700G>T (n.*700G>T)
c.*1766G>T (n.*1766G>T)
n.4395G>T
c.2592G>T (p.Leu864=)
c.3351G>T (p.Leu1117=)
c.*3056G>T (n.*3056G>T)
n.3202G>T
c.*3134G>T (n.*3134G>T)
n.293G>T
c.3441G>T (p.Leu1147=)
c.3399G>T (p.Leu1133=)
c.3663G>T (p.Leu1221=)
c.3585G>T (p.Leu1195=)
c.3552G>T (p.Leu1184=)
c.3561G>T (p.Leu1187=)
c.2571G>T (p.Leu857=)
1g.154584953C>GCA421231498ADARc.3428G>C (n.3428G>C)
c.3564G>C (p.Leu1188=)
c.3417G>C (p.Leu1139=)
c.3186G>C (p.Leu1062=)
c.2649G>C (p.Leu883=)
c.3534G>C (p.Leu1178=)
n.2327G>C
c.3456G>C (p.Leu1152=)
n.3519G>C
c.*1009G>C (n.*1009G>C)
n.4270G>C
c.*700G>C (n.*700G>C)
c.*1766G>C (n.*1766G>C)
n.4395G>C
c.2592G>C (p.Leu864=)
c.3351G>C (p.Leu1117=)
c.*3056G>C (n.*3056G>C)
n.3202G>C
c.*3134G>C (n.*3134G>C)
n.293G>C
c.3441G>C (p.Leu1147=)
c.3399G>C (p.Leu1133=)
c.3663G>C (p.Leu1221=)
c.3585G>C (p.Leu1195=)
c.3552G>C (p.Leu1184=)
c.3561G>C (p.Leu1187=)
c.2571G>C (p.Leu857=)
1g.154584953C>TCA421231499ADARc.3428G>A (n.3428G>A)
c.3564G>A (p.Leu1188=)
c.3417G>A (p.Leu1139=)
c.3186G>A (p.Leu1062=)
c.2649G>A (p.Leu883=)
c.3534G>A (p.Leu1178=)
n.2327G>A
c.3456G>A (p.Leu1152=)
n.3519G>A
c.*1009G>A (n.*1009G>A)
n.4270G>A
c.*700G>A (n.*700G>A)
c.*1766G>A (n.*1766G>A)
n.4395G>A
c.2592G>A (p.Leu864=)
c.3351G>A (p.Leu1117=)
c.*3056G>A (n.*3056G>A)
n.3202G>A
c.*3134G>A (n.*3134G>A)
n.293G>A
c.3441G>A (p.Leu1147=)
c.3399G>A (p.Leu1133=)
c.3663G>A (p.Leu1221=)
c.3585G>A (p.Leu1195=)
c.3552G>A (p.Leu1184=)
c.3561G>A (p.Leu1187=)
c.2571G>A (p.Leu857=)
 gnomAD v4 COSMIC COSMIC
1g.154584954A>CCA342634750ADARc.3427T>G (n.3427T>G)
c.3563T>G (p.Leu1188Arg)
c.3416T>G (p.Leu1139Arg)
c.3185T>G (p.Leu1062Arg)
c.2648T>G (p.Leu883Arg)
c.3533T>G (p.Leu1178Arg)
n.2326T>G
c.3455T>G (p.Leu1152Arg)
n.3518T>G
c.*1008T>G (n.*1008T>G)
n.4269T>G
c.*699T>G (n.*699T>G)
c.*1765T>G (n.*1765T>G)
n.4394T>G
c.2591T>G (p.Leu864Arg)
c.3350T>G (p.Leu1117Arg)
c.*3055T>G (n.*3055T>G)
n.3201T>G
c.*3133T>G (n.*3133T>G)
n.292T>G
c.3440T>G (p.Leu1147Arg)
c.3398T>G (p.Leu1133Arg)
c.3662T>G (p.Leu1221Arg)
c.3584T>G (p.Leu1195Arg)
c.3551T>G (p.Leu1184Arg)
c.3560T>G (p.Leu1187Arg)
c.2570T>G (p.Leu857Arg)
1g.154584954A>GCA342634751ADARc.3427T>C (n.3427T>C)
c.3563T>C (p.Leu1188Pro)
c.3416T>C (p.Leu1139Pro)
c.3185T>C (p.Leu1062Pro)
c.2648T>C (p.Leu883Pro)
c.3533T>C (p.Leu1178Pro)
n.2326T>C
c.3455T>C (p.Leu1152Pro)
n.3518T>C
c.*1008T>C (n.*1008T>C)
n.4269T>C
c.*699T>C (n.*699T>C)
c.*1765T>C (n.*1765T>C)
n.4394T>C
c.2591T>C (p.Leu864Pro)
c.3350T>C (p.Leu1117Pro)
c.*3055T>C (n.*3055T>C)
n.3201T>C
c.*3133T>C (n.*3133T>C)
n.292T>C
c.3440T>C (p.Leu1147Pro)
c.3398T>C (p.Leu1133Pro)
c.3662T>C (p.Leu1221Pro)
c.3584T>C (p.Leu1195Pro)
c.3551T>C (p.Leu1184Pro)
c.3560T>C (p.Leu1187Pro)
c.2570T>C (p.Leu857Pro)
1g.154584954A>TCA342634752ADARc.3427T>A (n.3427T>A)
c.3563T>A (p.Leu1188Gln)
c.3416T>A (p.Leu1139Gln)
c.3185T>A (p.Leu1062Gln)
c.2648T>A (p.Leu883Gln)
c.3533T>A (p.Leu1178Gln)
n.2326T>A
c.3455T>A (p.Leu1152Gln)
n.3518T>A
c.*1008T>A (n.*1008T>A)
n.4269T>A
c.*699T>A (n.*699T>A)
c.*1765T>A (n.*1765T>A)
n.4394T>A
c.2591T>A (p.Leu864Gln)
c.3350T>A (p.Leu1117Gln)
c.*3055T>A (n.*3055T>A)
n.3201T>A
c.*3133T>A (n.*3133T>A)
n.292T>A
c.3440T>A (p.Leu1147Gln)
c.3398T>A (p.Leu1133Gln)
c.3662T>A (p.Leu1221Gln)
c.3584T>A (p.Leu1195Gln)
c.3551T>A (p.Leu1184Gln)
c.3560T>A (p.Leu1187Gln)
c.2570T>A (p.Leu857Gln)
1g.154584954_154584957delCA2648175663ADARc.3424_3427del (n.3424_3427del)
c.3560_3563del (p.Leu1187ArgfsTer26)
c.3413_3416del (p.Leu1138ArgfsTer26)
c.3182_3185del (p.Leu1061ArgfsTer26)
c.2645_2648del (p.Leu882ArgfsTer26)
c.3530_3533del (p.Leu1177ArgfsTer26)
n.2323_2326del
c.3452_3455del (p.Leu1151ArgfsTer26)
n.3515_3518del
c.*1005_*1008del (n.*1005_*1008del)
n.4266_4269del
c.*696_*699del (n.*696_*699del)
c.*1762_*1765del (n.*1762_*1765del)
n.4391_4394del
c.2588_2591del (p.Leu863ArgfsTer26)
c.3347_3350del (p.Leu1116ArgfsTer26)
c.*3052_*3055del (n.*3052_*3055del)
n.3198_3201del
c.*3130_*3133del (n.*3130_*3133del)
n.289_292del
c.3437_3440del (p.Leu1146ArgfsTer26)
c.3395_3398del (p.Leu1132ArgfsTer26)
c.3659_3662del (p.Leu1220ArgfsTer26)
c.3581_3584del (p.Leu1194ArgfsTer26)
c.3548_3551del (p.Leu1183ArgfsTer26)
c.3557_3560del (p.Leu1186ArgfsTer26)
c.2567_2570del (p.Leu856ArgfsTer26)
 gnomAD v4
1g.154584955G>ACA421231501ADARc.3426C>T (n.3426C>T)
c.3562C>T (p.Leu1188=)
c.3415C>T (p.Leu1139=)
c.3184C>T (p.Leu1062=)
c.2647C>T (p.Leu883=)
c.3532C>T (p.Leu1178=)
n.2325C>T
c.3454C>T (p.Leu1152=)
n.3517C>T
c.*1007C>T (n.*1007C>T)
n.4268C>T
c.*698C>T (n.*698C>T)
c.*1764C>T (n.*1764C>T)
n.4393C>T
c.2590C>T (p.Leu864=)
c.3349C>T (p.Leu1117=)
c.*3054C>T (n.*3054C>T)
n.3200C>T
c.*3132C>T (n.*3132C>T)
n.291C>T
c.3439C>T (p.Leu1147=)
c.3397C>T (p.Leu1133=)
c.3661C>T (p.Leu1221=)
c.3583C>T (p.Leu1195=)
c.3550C>T (p.Leu1184=)
c.3559C>T (p.Leu1187=)
c.2569C>T (p.Leu857=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154584955G>CCA342634753ADARc.3426C>G (n.3426C>G)
c.3562C>G (p.Leu1188Val)
c.3415C>G (p.Leu1139Val)
c.3184C>G (p.Leu1062Val)
c.2647C>G (p.Leu883Val)
c.3532C>G (p.Leu1178Val)
n.2325C>G
c.3454C>G (p.Leu1152Val)
n.3517C>G
c.*1007C>G (n.*1007C>G)
n.4268C>G
c.*698C>G (n.*698C>G)
c.*1764C>G (n.*1764C>G)
n.4393C>G
c.2590C>G (p.Leu864Val)
c.3349C>G (p.Leu1117Val)
c.*3054C>G (n.*3054C>G)
n.3200C>G
c.*3132C>G (n.*3132C>G)
n.291C>G
c.3439C>G (p.Leu1147Val)
c.3397C>G (p.Leu1133Val)
c.3661C>G (p.Leu1221Val)
c.3583C>G (p.Leu1195Val)
c.3550C>G (p.Leu1184Val)
c.3559C>G (p.Leu1187Val)
c.2569C>G (p.Leu857Val)
1g.154584955G=CA2480931210ADARc.3426C= (n.3426C=)
c.3562C= (p.Leu1188=)
c.3415C= (p.Leu1139=)
c.3184C= (p.Leu1062=)
c.2647C= (p.Leu883=)
c.3532C= (p.Leu1178=)
n.2325C=
c.3454C= (p.Leu1152=)
n.3517C=
c.*1007C= (n.*1007C=)
n.4268C=
c.*698C= (n.*698C=)
c.*1764C= (n.*1764C=)
n.4393C=
c.2590C= (p.Leu864=)
c.3349C= (p.Leu1117=)
c.*3054C= (n.*3054C=)
n.3200C=
c.*3132C= (n.*3132C=)
n.291C=
c.3439C= (p.Leu1147=)
c.3397C= (p.Leu1133=)
c.3661C= (p.Leu1221=)
c.3583C= (p.Leu1195=)
c.3550C= (p.Leu1184=)
c.3559C= (p.Leu1187=)
c.2569C= (p.Leu857=)
1g.154584955G>TCA342634754ADARc.3426C>A (n.3426C>A)
c.3562C>A (p.Leu1188Met)
c.3415C>A (p.Leu1139Met)
c.3184C>A (p.Leu1062Met)
c.2647C>A (p.Leu883Met)
c.3532C>A (p.Leu1178Met)
n.2325C>A
c.3454C>A (p.Leu1152Met)
n.3517C>A
c.*1007C>A (n.*1007C>A)
n.4268C>A
c.*698C>A (n.*698C>A)
c.*1764C>A (n.*1764C>A)
n.4393C>A
c.2590C>A (p.Leu864Met)
c.3349C>A (p.Leu1117Met)
c.*3054C>A (n.*3054C>A)
n.3200C>A
c.*3132C>A (n.*3132C>A)
n.291C>A
c.3439C>A (p.Leu1147Met)
c.3397C>A (p.Leu1133Met)
c.3661C>A (p.Leu1221Met)
c.3583C>A (p.Leu1195Met)
c.3550C>A (p.Leu1184Met)
c.3559C>A (p.Leu1187Met)
c.2569C>A (p.Leu857Met)
 gnomAD v4
1g.154584956T>ACA421231502ADARc.3425A>T (n.3425A>T)
c.3561A>T (p.Leu1187=)
c.3414A>T (p.Leu1138=)
c.3183A>T (p.Leu1061=)
c.2646A>T (p.Leu882=)
c.3531A>T (p.Leu1177=)
n.2324A>T
c.3453A>T (p.Leu1151=)
n.3516A>T
c.*1006A>T (n.*1006A>T)
n.4267A>T
c.*697A>T (n.*697A>T)
c.*1763A>T (n.*1763A>T)
n.4392A>T
c.2589A>T (p.Leu863=)
c.3348A>T (p.Leu1116=)
c.*3053A>T (n.*3053A>T)
n.3199A>T
c.*3131A>T (n.*3131A>T)
n.290A>T
c.3438A>T (p.Leu1146=)
c.3396A>T (p.Leu1132=)
c.3660A>T (p.Leu1220=)
c.3582A>T (p.Leu1194=)
c.3549A>T (p.Leu1183=)
c.3558A>T (p.Leu1186=)
c.2568A>T (p.Leu856=)
1g.154584956T>CCA1130924ADARc.3425A>G (n.3425A>G)
c.3561A>G (p.Leu1187=)
c.3414A>G (p.Leu1138=)
c.3183A>G (p.Leu1061=)
c.2646A>G (p.Leu882=)
c.3531A>G (p.Leu1177=)
n.2324A>G
c.3453A>G (p.Leu1151=)
n.3516A>G
c.*1006A>G (n.*1006A>G)
n.4267A>G
c.*697A>G (n.*697A>G)
c.*1763A>G (n.*1763A>G)
n.4392A>G
c.2589A>G (p.Leu863=)
c.3348A>G (p.Leu1116=)
c.*3053A>G (n.*3053A>G)
n.3199A>G
c.*3131A>G (n.*3131A>G)
n.290A>G
c.3438A>G (p.Leu1146=)
c.3396A>G (p.Leu1132=)
c.3660A>G (p.Leu1220=)
c.3582A>G (p.Leu1194=)
c.3549A>G (p.Leu1183=)
c.3558A>G (p.Leu1186=)
c.2568A>G (p.Leu856=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584956T>GCA421231503ADARc.3425A>C (n.3425A>C)
c.3561A>C (p.Leu1187=)
c.3414A>C (p.Leu1138=)
c.3183A>C (p.Leu1061=)
c.2646A>C (p.Leu882=)
c.3531A>C (p.Leu1177=)
n.2324A>C
c.3453A>C (p.Leu1151=)
n.3516A>C
c.*1006A>C (n.*1006A>C)
n.4267A>C
c.*697A>C (n.*697A>C)
c.*1763A>C (n.*1763A>C)
n.4392A>C
c.2589A>C (p.Leu863=)
c.3348A>C (p.Leu1116=)
c.*3053A>C (n.*3053A>C)
n.3199A>C
c.*3131A>C (n.*3131A>C)
n.290A>C
c.3438A>C (p.Leu1146=)
c.3396A>C (p.Leu1132=)
c.3660A>C (p.Leu1220=)
c.3582A>C (p.Leu1194=)
c.3549A>C (p.Leu1183=)
c.3558A>C (p.Leu1186=)
c.2568A>C (p.Leu856=)
 dbSNP gnomAD v3 gnomAD v4
1g.154584956T=CA1144715468ADARc.3425A= (n.3425A=)
c.3561A= (p.Leu1187=)
c.3414A= (p.Leu1138=)
c.3183A= (p.Leu1061=)
c.2646A= (p.Leu882=)
c.3531A= (p.Leu1177=)
n.2324A=
c.3453A= (p.Leu1151=)
n.3516A=
c.*1006A= (n.*1006A=)
n.4267A=
c.*697A= (n.*697A=)
c.*1763A= (n.*1763A=)
n.4392A=
c.2589A= (p.Leu863=)
c.3348A= (p.Leu1116=)
c.*3053A= (n.*3053A=)
n.3199A=
c.*3131A= (n.*3131A=)
n.290A=
c.3438A= (p.Leu1146=)
c.3396A= (p.Leu1132=)
c.3660A= (p.Leu1220=)
c.3582A= (p.Leu1194=)
c.3549A= (p.Leu1183=)
c.3558A= (p.Leu1186=)
c.2568A= (p.Leu856=)
1g.154584957A>CCA342634756ADARc.3424T>G (n.3424T>G)
c.3560T>G (p.Leu1187Arg)
c.3413T>G (p.Leu1138Arg)
c.3182T>G (p.Leu1061Arg)
c.2645T>G (p.Leu882Arg)
c.3530T>G (p.Leu1177Arg)
n.2323T>G
c.3452T>G (p.Leu1151Arg)
n.3515T>G
c.*1005T>G (n.*1005T>G)
n.4266T>G
c.*696T>G (n.*696T>G)
c.*1762T>G (n.*1762T>G)
n.4391T>G
c.2588T>G (p.Leu863Arg)
c.3347T>G (p.Leu1116Arg)
c.*3052T>G (n.*3052T>G)
n.3198T>G
c.*3130T>G (n.*3130T>G)
n.289T>G
c.3437T>G (p.Leu1146Arg)
c.3395T>G (p.Leu1132Arg)
c.3659T>G (p.Leu1220Arg)
c.3581T>G (p.Leu1194Arg)
c.3548T>G (p.Leu1183Arg)
c.3557T>G (p.Leu1186Arg)
c.2567T>G (p.Leu856Arg)
1g.154584957A>GCA342634755ADARc.3424T>C (n.3424T>C)
c.3560T>C (p.Leu1187Pro)
c.3413T>C (p.Leu1138Pro)
c.3182T>C (p.Leu1061Pro)
c.2645T>C (p.Leu882Pro)
c.3530T>C (p.Leu1177Pro)
n.2323T>C
c.3452T>C (p.Leu1151Pro)
n.3515T>C
c.*1005T>C (n.*1005T>C)
n.4266T>C
c.*696T>C (n.*696T>C)
c.*1762T>C (n.*1762T>C)
n.4391T>C
c.2588T>C (p.Leu863Pro)
c.3347T>C (p.Leu1116Pro)
c.*3052T>C (n.*3052T>C)
n.3198T>C
c.*3130T>C (n.*3130T>C)
n.289T>C
c.3437T>C (p.Leu1146Pro)
c.3395T>C (p.Leu1132Pro)
c.3659T>C (p.Leu1220Pro)
c.3581T>C (p.Leu1194Pro)
c.3548T>C (p.Leu1183Pro)
c.3557T>C (p.Leu1186Pro)
c.2567T>C (p.Leu856Pro)
1g.154584957A>TCA342634757ADARc.3424T>A (n.3424T>A)
c.3560T>A (p.Leu1187Gln)
c.3413T>A (p.Leu1138Gln)
c.3182T>A (p.Leu1061Gln)
c.2645T>A (p.Leu882Gln)
c.3530T>A (p.Leu1177Gln)
n.2323T>A
c.3452T>A (p.Leu1151Gln)
n.3515T>A
c.*1005T>A (n.*1005T>A)
n.4266T>A
c.*696T>A (n.*696T>A)
c.*1762T>A (n.*1762T>A)
n.4391T>A
c.2588T>A (p.Leu863Gln)
c.3347T>A (p.Leu1116Gln)
c.*3052T>A (n.*3052T>A)
n.3198T>A
c.*3130T>A (n.*3130T>A)
n.289T>A
c.3437T>A (p.Leu1146Gln)
c.3395T>A (p.Leu1132Gln)
c.3659T>A (p.Leu1220Gln)
c.3581T>A (p.Leu1194Gln)
c.3548T>A (p.Leu1183Gln)
c.3557T>A (p.Leu1186Gln)
c.2567T>A (p.Leu856Gln)
1g.154584958G>ACA421231504ADARc.3423C>T (n.3423C>T)
c.3559C>T (p.Leu1187=)
c.3412C>T (p.Leu1138=)
c.3181C>T (p.Leu1061=)
c.2644C>T (p.Leu882=)
c.3529C>T (p.Leu1177=)
n.2322C>T
c.3451C>T (p.Leu1151=)
n.3514C>T
c.*1004C>T (n.*1004C>T)
n.4265C>T
c.*695C>T (n.*695C>T)
c.*1761C>T (n.*1761C>T)
n.4390C>T
c.2587C>T (p.Leu863=)
c.3346C>T (p.Leu1116=)
c.*3051C>T (n.*3051C>T)
n.3197C>T
c.*3129C>T (n.*3129C>T)
n.288C>T
c.3436C>T (p.Leu1146=)
c.3394C>T (p.Leu1132=)
c.3658C>T (p.Leu1220=)
c.3580C>T (p.Leu1194=)
c.3547C>T (p.Leu1183=)
c.3556C>T (p.Leu1186=)
c.2566C>T (p.Leu856=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.154584958G>CCA342634758ADARc.3423C>G (n.3423C>G)
c.3559C>G (p.Leu1187Val)
c.3412C>G (p.Leu1138Val)
c.3181C>G (p.Leu1061Val)
c.2644C>G (p.Leu882Val)
c.3529C>G (p.Leu1177Val)
n.2322C>G
c.3451C>G (p.Leu1151Val)
n.3514C>G
c.*1004C>G (n.*1004C>G)
n.4265C>G
c.*695C>G (n.*695C>G)
c.*1761C>G (n.*1761C>G)
n.4390C>G
c.2587C>G (p.Leu863Val)
c.3346C>G (p.Leu1116Val)
c.*3051C>G (n.*3051C>G)
n.3197C>G
c.*3129C>G (n.*3129C>G)
n.288C>G
c.3436C>G (p.Leu1146Val)
c.3394C>G (p.Leu1132Val)
c.3658C>G (p.Leu1220Val)
c.3580C>G (p.Leu1194Val)
c.3547C>G (p.Leu1183Val)
c.3556C>G (p.Leu1186Val)
c.2566C>G (p.Leu856Val)
1g.154584958G>TCA342634759ADARc.3423C>A (n.3423C>A)
c.3559C>A (p.Leu1187Ile)
c.3412C>A (p.Leu1138Ile)
c.3181C>A (p.Leu1061Ile)
c.2644C>A (p.Leu882Ile)
c.3529C>A (p.Leu1177Ile)
n.2322C>A
c.3451C>A (p.Leu1151Ile)
n.3514C>A
c.*1004C>A (n.*1004C>A)
n.4265C>A
c.*695C>A (n.*695C>A)
c.*1761C>A (n.*1761C>A)
n.4390C>A
c.2587C>A (p.Leu863Ile)
c.3346C>A (p.Leu1116Ile)
c.*3051C>A (n.*3051C>A)
n.3197C>A
c.*3129C>A (n.*3129C>A)
n.288C>A
c.3436C>A (p.Leu1146Ile)
c.3394C>A (p.Leu1132Ile)
c.3658C>A (p.Leu1220Ile)
c.3580C>A (p.Leu1194Ile)
c.3547C>A (p.Leu1183Ile)
c.3556C>A (p.Leu1186Ile)
c.2566C>A (p.Leu856Ile)
1g.154584959A>CCA342634760ADARc.3422T>G (n.3422T>G)
c.3558T>G (p.Asp1186Glu)
c.3411T>G (p.Asp1137Glu)
c.3180T>G (p.Asp1060Glu)
c.2643T>G (p.Asp881Glu)
c.3528T>G (p.Asp1176Glu)
n.2321T>G
c.3450T>G (p.Asp1150Glu)
n.3513T>G
c.*1003T>G (n.*1003T>G)
n.4264T>G
c.*694T>G (n.*694T>G)
c.*1760T>G (n.*1760T>G)
n.4389T>G
c.2586T>G (p.Asp862Glu)
c.3345T>G (p.Asp1115Glu)
c.*3050T>G (n.*3050T>G)
n.3196T>G
c.*3128T>G (n.*3128T>G)
n.287T>G
c.3435T>G (p.Asp1145Glu)
c.3393T>G (p.Asp1131Glu)
c.3657T>G (p.Asp1219Glu)
c.3579T>G (p.Asp1193Glu)
c.3546T>G (p.Asp1182Glu)
c.3555T>G (p.Asp1185Glu)
c.2565T>G (p.Asp855Glu)
1g.154584959A>GCA421231505ADARc.3422T>C (n.3422T>C)
c.3558T>C (p.Asp1186=)
c.3411T>C (p.Asp1137=)
c.3180T>C (p.Asp1060=)
c.2643T>C (p.Asp881=)
c.3528T>C (p.Asp1176=)
n.2321T>C
c.3450T>C (p.Asp1150=)
n.3513T>C
c.*1003T>C (n.*1003T>C)
n.4264T>C
c.*694T>C (n.*694T>C)
c.*1760T>C (n.*1760T>C)
n.4389T>C
c.2586T>C (p.Asp862=)
c.3345T>C (p.Asp1115=)
c.*3050T>C (n.*3050T>C)
n.3196T>C
c.*3128T>C (n.*3128T>C)
n.287T>C
c.3435T>C (p.Asp1145=)
c.3393T>C (p.Asp1131=)
c.3657T>C (p.Asp1219=)
c.3579T>C (p.Asp1193=)
c.3546T>C (p.Asp1182=)
c.3555T>C (p.Asp1185=)
c.2565T>C (p.Asp855=)
1g.154584959A>TCA342634761ADARc.3422T>A (n.3422T>A)
c.3558T>A (p.Asp1186Glu)
c.3411T>A (p.Asp1137Glu)
c.3180T>A (p.Asp1060Glu)
c.2643T>A (p.Asp881Glu)
c.3528T>A (p.Asp1176Glu)
n.2321T>A
c.3450T>A (p.Asp1150Glu)
n.3513T>A
c.*1003T>A (n.*1003T>A)
n.4264T>A
c.*694T>A (n.*694T>A)
c.*1760T>A (n.*1760T>A)
n.4389T>A
c.2586T>A (p.Asp862Glu)
c.3345T>A (p.Asp1115Glu)
c.*3050T>A (n.*3050T>A)
n.3196T>A
c.*3128T>A (n.*3128T>A)
n.287T>A
c.3435T>A (p.Asp1145Glu)
c.3393T>A (p.Asp1131Glu)
c.3657T>A (p.Asp1219Glu)
c.3579T>A (p.Asp1193Glu)
c.3546T>A (p.Asp1182Glu)
c.3555T>A (p.Asp1185Glu)
c.2565T>A (p.Asp855Glu)
1g.154584960T>ACA342634762ADARc.3421A>T (n.3421A>T)
c.3557A>T (p.Asp1186Val)
c.3410A>T (p.Asp1137Val)
c.3179A>T (p.Asp1060Val)
c.2642A>T (p.Asp881Val)
c.3527A>T (p.Asp1176Val)
n.2320A>T
c.3449A>T (p.Asp1150Val)
n.3512A>T
c.*1002A>T (n.*1002A>T)
n.4263A>T
c.*693A>T (n.*693A>T)
c.*1759A>T (n.*1759A>T)
n.4388A>T
c.2585A>T (p.Asp862Val)
c.3344A>T (p.Asp1115Val)
c.*3049A>T (n.*3049A>T)
n.3195A>T
c.*3127A>T (n.*3127A>T)
n.286A>T
c.3434A>T (p.Asp1145Val)
c.3392A>T (p.Asp1131Val)
c.3656A>T (p.Asp1219Val)
c.3578A>T (p.Asp1193Val)
c.3545A>T (p.Asp1182Val)
c.3554A>T (p.Asp1185Val)
c.2564A>T (p.Asp855Val)
1g.154584960T>CCA342634763ADARc.3421A>G (n.3421A>G)
c.3557A>G (p.Asp1186Gly)
c.3410A>G (p.Asp1137Gly)
c.3179A>G (p.Asp1060Gly)
c.2642A>G (p.Asp881Gly)
c.3527A>G (p.Asp1176Gly)
n.2320A>G
c.3449A>G (p.Asp1150Gly)
n.3512A>G
c.*1002A>G (n.*1002A>G)
n.4263A>G
c.*693A>G (n.*693A>G)
c.*1759A>G (n.*1759A>G)
n.4388A>G
c.2585A>G (p.Asp862Gly)
c.3344A>G (p.Asp1115Gly)
c.*3049A>G (n.*3049A>G)
n.3195A>G
c.*3127A>G (n.*3127A>G)
n.286A>G
c.3434A>G (p.Asp1145Gly)
c.3392A>G (p.Asp1131Gly)
c.3656A>G (p.Asp1219Gly)
c.3578A>G (p.Asp1193Gly)
c.3545A>G (p.Asp1182Gly)
c.3554A>G (p.Asp1185Gly)
c.2564A>G (p.Asp855Gly)
1g.154584960T>GCA342634764ADARc.3421A>C (n.3421A>C)
c.3557A>C (p.Asp1186Ala)
c.3410A>C (p.Asp1137Ala)
c.3179A>C (p.Asp1060Ala)
c.2642A>C (p.Asp881Ala)
c.3527A>C (p.Asp1176Ala)
n.2320A>C
c.3449A>C (p.Asp1150Ala)
n.3512A>C
c.*1002A>C (n.*1002A>C)
n.4263A>C
c.*693A>C (n.*693A>C)
c.*1759A>C (n.*1759A>C)
n.4388A>C
c.2585A>C (p.Asp862Ala)
c.3344A>C (p.Asp1115Ala)
c.*3049A>C (n.*3049A>C)
n.3195A>C
c.*3127A>C (n.*3127A>C)
n.286A>C
c.3434A>C (p.Asp1145Ala)
c.3392A>C (p.Asp1131Ala)
c.3656A>C (p.Asp1219Ala)
c.3578A>C (p.Asp1193Ala)
c.3545A>C (p.Asp1182Ala)
c.3554A>C (p.Asp1185Ala)
c.2564A>C (p.Asp855Ala)
1g.154584961C>ACA342634765ADARc.3420G>T (n.3420G>T)
c.3556G>T (p.Asp1186Tyr)
c.3409G>T (p.Asp1137Tyr)
c.3178G>T (p.Asp1060Tyr)
c.2641G>T (p.Asp881Tyr)
c.3526G>T (p.Asp1176Tyr)
n.2319G>T
c.3448G>T (p.Asp1150Tyr)
n.3511G>T
c.*1001G>T (n.*1001G>T)
n.4262G>T
c.*692G>T (n.*692G>T)
c.*1758G>T (n.*1758G>T)
n.4387G>T
c.2584G>T (p.Asp862Tyr)
c.3343G>T (p.Asp1115Tyr)
c.*3048G>T (n.*3048G>T)
n.3194G>T
c.*3126G>T (n.*3126G>T)
n.285G>T
c.3433G>T (p.Asp1145Tyr)
c.3391G>T (p.Asp1131Tyr)
c.3655G>T (p.Asp1219Tyr)
c.3577G>T (p.Asp1193Tyr)
c.3544G>T (p.Asp1182Tyr)
c.3553G>T (p.Asp1185Tyr)
c.2563G>T (p.Asp855Tyr)
1g.154584961C=CA2480931211ADARc.3420G= (n.3420G=)
c.3556G= (p.Asp1186=)
c.3409G= (p.Asp1137=)
c.3178G= (p.Asp1060=)
c.2641G= (p.Asp881=)
c.3526G= (p.Asp1176=)
n.2319G=
c.3448G= (p.Asp1150=)
n.3511G=
c.*1001G= (n.*1001G=)
n.4262G=
c.*692G= (n.*692G=)
c.*1758G= (n.*1758G=)
n.4387G=
c.2584G= (p.Asp862=)
c.3343G= (p.Asp1115=)
c.*3048G= (n.*3048G=)
n.3194G=
c.*3126G= (n.*3126G=)
n.285G=
c.3433G= (p.Asp1145=)
c.3391G= (p.Asp1131=)
c.3655G= (p.Asp1219=)
c.3577G= (p.Asp1193=)
c.3544G= (p.Asp1182=)
c.3553G= (p.Asp1185=)
c.2563G= (p.Asp855=)
1g.154584961C>GCA342634766ADARc.3420G>C (n.3420G>C)
c.3556G>C (p.Asp1186His)
c.3409G>C (p.Asp1137His)
c.3178G>C (p.Asp1060His)
c.2641G>C (p.Asp881His)
c.3526G>C (p.Asp1176His)
n.2319G>C
c.3448G>C (p.Asp1150His)
n.3511G>C
c.*1001G>C (n.*1001G>C)
n.4262G>C
c.*692G>C (n.*692G>C)
c.*1758G>C (n.*1758G>C)
n.4387G>C
c.2584G>C (p.Asp862His)
c.3343G>C (p.Asp1115His)
c.*3048G>C (n.*3048G>C)
n.3194G>C
c.*3126G>C (n.*3126G>C)
n.285G>C
c.3433G>C (p.Asp1145His)
c.3391G>C (p.Asp1131His)
c.3655G>C (p.Asp1219His)
c.3577G>C (p.Asp1193His)
c.3544G>C (p.Asp1182His)
c.3553G>C (p.Asp1185His)
c.2563G>C (p.Asp855His)
1g.154584961C>TCA342634767ADARc.3420G>A (n.3420G>A)
c.3556G>A (p.Asp1186Asn)
c.3409G>A (p.Asp1137Asn)
c.3178G>A (p.Asp1060Asn)
c.2641G>A (p.Asp881Asn)
c.3526G>A (p.Asp1176Asn)
n.2319G>A
c.3448G>A (p.Asp1150Asn)
n.3511G>A
c.*1001G>A (n.*1001G>A)
n.4262G>A
c.*692G>A (n.*692G>A)
c.*1758G>A (n.*1758G>A)
n.4387G>A
c.2584G>A (p.Asp862Asn)
c.3343G>A (p.Asp1115Asn)
c.*3048G>A (n.*3048G>A)
n.3194G>A
c.*3126G>A (n.*3126G>A)
n.285G>A
c.3433G>A (p.Asp1145Asn)
c.3391G>A (p.Asp1131Asn)
c.3655G>A (p.Asp1219Asn)
c.3577G>A (p.Asp1193Asn)
c.3544G>A (p.Asp1182Asn)
c.3553G>A (p.Asp1185Asn)
c.2563G>A (p.Asp855Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.154584962C>ACA342634769ADARc.3419G>T (n.3419G>T)
c.3555G>T (p.Arg1185Ser)
c.3408G>T (p.Arg1136Ser)
c.3177G>T (p.Arg1059Ser)
c.2640G>T (p.Arg880Ser)
c.3525G>T (p.Arg1175Ser)
n.2318G>T
c.3447G>T (p.Arg1149Ser)
n.3510G>T
c.*1000G>T (n.*1000G>T)
n.4261G>T
c.*691G>T (n.*691G>T)
c.*1757G>T (n.*1757G>T)
n.4386G>T
c.2583G>T (p.Arg861Ser)
c.3342G>T (p.Arg1114Ser)
c.*3047G>T (n.*3047G>T)
n.3193G>T
c.*3125G>T (n.*3125G>T)
n.284G>T
c.3432G>T (p.Arg1144Ser)
c.3390G>T (p.Arg1130Ser)
c.3654G>T (p.Arg1218Ser)
c.3576G>T (p.Arg1192Ser)
c.3543G>T (p.Arg1181Ser)
c.3552G>T (p.Arg1184Ser)
c.2562G>T (p.Arg854Ser)
1g.154584962C=CA2480931212ADARc.3419G= (n.3419G=)
c.3555G= (p.Arg1185=)
c.3408G= (p.Arg1136=)
c.3177G= (p.Arg1059=)
c.2640G= (p.Arg880=)
c.3525G= (p.Arg1175=)
n.2318G=
c.3447G= (p.Arg1149=)
n.3510G=
c.*1000G= (n.*1000G=)
n.4261G=
c.*691G= (n.*691G=)
c.*1757G= (n.*1757G=)
n.4386G=
c.2583G= (p.Arg861=)
c.3342G= (p.Arg1114=)
c.*3047G= (n.*3047G=)
n.3193G=
c.*3125G= (n.*3125G=)
n.284G=
c.3432G= (p.Arg1144=)
c.3390G= (p.Arg1130=)
c.3654G= (p.Arg1218=)
c.3576G= (p.Arg1192=)
c.3543G= (p.Arg1181=)
c.3552G= (p.Arg1184=)
c.2562G= (p.Arg854=)
1g.154584962C>GCA342634768ADARc.3419G>C (n.3419G>C)
c.3555G>C (p.Arg1185Ser)
c.3408G>C (p.Arg1136Ser)
c.3177G>C (p.Arg1059Ser)
c.2640G>C (p.Arg880Ser)
c.3525G>C (p.Arg1175Ser)
n.2318G>C
c.3447G>C (p.Arg1149Ser)
n.3510G>C
c.*1000G>C (n.*1000G>C)
n.4261G>C
c.*691G>C (n.*691G>C)
c.*1757G>C (n.*1757G>C)
n.4386G>C
c.2583G>C (p.Arg861Ser)
c.3342G>C (p.Arg1114Ser)
c.*3047G>C (n.*3047G>C)
n.3193G>C
c.*3125G>C (n.*3125G>C)
n.284G>C
c.3432G>C (p.Arg1144Ser)
c.3390G>C (p.Arg1130Ser)
c.3654G>C (p.Arg1218Ser)
c.3576G>C (p.Arg1192Ser)
c.3543G>C (p.Arg1181Ser)
c.3552G>C (p.Arg1184Ser)
c.2562G>C (p.Arg854Ser)
1g.154584962C>TCA1130925ADARc.3419G>A (n.3419G>A)
c.3555G>A (p.Arg1185=)
c.3408G>A (p.Arg1136=)
c.3177G>A (p.Arg1059=)
c.2640G>A (p.Arg880=)
c.3525G>A (p.Arg1175=)
n.2318G>A
c.3447G>A (p.Arg1149=)
n.3510G>A
c.*1000G>A (n.*1000G>A)
n.4261G>A
c.*691G>A (n.*691G>A)
c.*1757G>A (n.*1757G>A)
n.4386G>A
c.2583G>A (p.Arg861=)
c.3342G>A (p.Arg1114=)
c.*3047G>A (n.*3047G>A)
n.3193G>A
c.*3125G>A (n.*3125G>A)
n.284G>A
c.3432G>A (p.Arg1144=)
c.3390G>A (p.Arg1130=)
c.3654G>A (p.Arg1218=)
c.3576G>A (p.Arg1192=)
c.3543G>A (p.Arg1181=)
c.3552G>A (p.Arg1184=)
c.2562G>A (p.Arg854=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584963C>ACA342634770ADARc.3418G>T (n.3418G>T)
c.3554G>T (p.Arg1185Met)
c.3407G>T (p.Arg1136Met)
c.3176G>T (p.Arg1059Met)
c.2639G>T (p.Arg880Met)
c.3524G>T (p.Arg1175Met)
n.2317G>T
c.3446G>T (p.Arg1149Met)
n.3509G>T
c.*999G>T (n.*999G>T)
n.4260G>T
c.*690G>T (n.*690G>T)
c.*1756G>T (n.*1756G>T)
n.4385G>T
c.2582G>T (p.Arg861Met)
c.3341G>T (p.Arg1114Met)
c.*3046G>T (n.*3046G>T)
n.3192G>T
c.*3124G>T (n.*3124G>T)
n.283G>T
c.3431G>T (p.Arg1144Met)
c.3389G>T (p.Arg1130Met)
c.3653G>T (p.Arg1218Met)
c.3575G>T (p.Arg1192Met)
c.3542G>T (p.Arg1181Met)
c.3551G>T (p.Arg1184Met)
c.2561G>T (p.Arg854Met)
1g.154584963C>GCA342634771ADARc.3418G>C (n.3418G>C)
c.3554G>C (p.Arg1185Thr)
c.3407G>C (p.Arg1136Thr)
c.3176G>C (p.Arg1059Thr)
c.2639G>C (p.Arg880Thr)
c.3524G>C (p.Arg1175Thr)
n.2317G>C
c.3446G>C (p.Arg1149Thr)
n.3509G>C
c.*999G>C (n.*999G>C)
n.4260G>C
c.*690G>C (n.*690G>C)
c.*1756G>C (n.*1756G>C)
n.4385G>C
c.2582G>C (p.Arg861Thr)
c.3341G>C (p.Arg1114Thr)
c.*3046G>C (n.*3046G>C)
n.3192G>C
c.*3124G>C (n.*3124G>C)
n.283G>C
c.3431G>C (p.Arg1144Thr)
c.3389G>C (p.Arg1130Thr)
c.3653G>C (p.Arg1218Thr)
c.3575G>C (p.Arg1192Thr)
c.3542G>C (p.Arg1181Thr)
c.3551G>C (p.Arg1184Thr)
c.2561G>C (p.Arg854Thr)
1g.154584963C>TCA342634772ADARc.3418G>A (n.3418G>A)
c.3554G>A (p.Arg1185Lys)
c.3407G>A (p.Arg1136Lys)
c.3176G>A (p.Arg1059Lys)
c.2639G>A (p.Arg880Lys)
c.3524G>A (p.Arg1175Lys)
n.2317G>A
c.3446G>A (p.Arg1149Lys)
n.3509G>A
c.*999G>A (n.*999G>A)
n.4260G>A
c.*690G>A (n.*690G>A)
c.*1756G>A (n.*1756G>A)
n.4385G>A
c.2582G>A (p.Arg861Lys)
c.3341G>A (p.Arg1114Lys)
c.*3046G>A (n.*3046G>A)
n.3192G>A
c.*3124G>A (n.*3124G>A)
n.283G>A
c.3431G>A (p.Arg1144Lys)
c.3389G>A (p.Arg1130Lys)
c.3653G>A (p.Arg1218Lys)
c.3575G>A (p.Arg1192Lys)
c.3542G>A (p.Arg1181Lys)
c.3551G>A (p.Arg1184Lys)
c.2561G>A (p.Arg854Lys)
1g.154584964T>ACA342634773ADARc.3417A>T (n.3417A>T)
c.3553A>T (p.Arg1185Trp)
c.3406A>T (p.Arg1136Trp)
c.3175A>T (p.Arg1059Trp)
c.2638A>T (p.Arg880Trp)
c.3523A>T (p.Arg1175Trp)
n.2316A>T
c.3445A>T (p.Arg1149Trp)
n.3508A>T
c.*998A>T (n.*998A>T)
n.4259A>T
c.*689A>T (n.*689A>T)
c.*1755A>T (n.*1755A>T)
n.4384A>T
c.2581A>T (p.Arg861Trp)
c.3340A>T (p.Arg1114Trp)
c.*3045A>T (n.*3045A>T)
n.3191A>T
c.*3123A>T (n.*3123A>T)
n.282A>T
c.3430A>T (p.Arg1144Trp)
c.3388A>T (p.Arg1130Trp)
c.3652A>T (p.Arg1218Trp)
c.3574A>T (p.Arg1192Trp)
c.3541A>T (p.Arg1181Trp)
c.3550A>T (p.Arg1184Trp)
c.2560A>T (p.Arg854Trp)
1g.154584964T>CCA342634774ADARc.3417A>G (n.3417A>G)
c.3553A>G (p.Arg1185Gly)
c.3406A>G (p.Arg1136Gly)
c.3175A>G (p.Arg1059Gly)
c.2638A>G (p.Arg880Gly)
c.3523A>G (p.Arg1175Gly)
n.2316A>G
c.3445A>G (p.Arg1149Gly)
n.3508A>G
c.*998A>G (n.*998A>G)
n.4259A>G
c.*689A>G (n.*689A>G)
c.*1755A>G (n.*1755A>G)
n.4384A>G
c.2581A>G (p.Arg861Gly)
c.3340A>G (p.Arg1114Gly)
c.*3045A>G (n.*3045A>G)
n.3191A>G
c.*3123A>G (n.*3123A>G)
n.282A>G
c.3430A>G (p.Arg1144Gly)
c.3388A>G (p.Arg1130Gly)
c.3652A>G (p.Arg1218Gly)
c.3574A>G (p.Arg1192Gly)
c.3541A>G (p.Arg1181Gly)
c.3550A>G (p.Arg1184Gly)
c.2560A>G (p.Arg854Gly)
 gnomAD v4
1g.154584964T>GCA1130926ADARc.3417A>C (n.3417A>C)
c.3553A>C (p.Arg1185=)
c.3406A>C (p.Arg1136=)
c.3175A>C (p.Arg1059=)
c.2638A>C (p.Arg880=)
c.3523A>C (p.Arg1175=)
n.2316A>C
c.3445A>C (p.Arg1149=)
n.3508A>C
c.*998A>C (n.*998A>C)
n.4259A>C
c.*689A>C (n.*689A>C)
c.*1755A>C (n.*1755A>C)
n.4384A>C
c.2581A>C (p.Arg861=)
c.3340A>C (p.Arg1114=)
c.*3045A>C (n.*3045A>C)
n.3191A>C
c.*3123A>C (n.*3123A>C)
n.282A>C
c.3430A>C (p.Arg1144=)
c.3388A>C (p.Arg1130=)
c.3652A>C (p.Arg1218=)
c.3574A>C (p.Arg1192=)
c.3541A>C (p.Arg1181=)
c.3550A>C (p.Arg1184=)
c.2560A>C (p.Arg854=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584964T=CA1142128040ADARc.3417A= (n.3417A=)
c.3553A= (p.Arg1185=)
c.3406A= (p.Arg1136=)
c.3175A= (p.Arg1059=)
c.2638A= (p.Arg880=)
c.3523A= (p.Arg1175=)
n.2316A=
c.3445A= (p.Arg1149=)
n.3508A=
c.*998A= (n.*998A=)
n.4259A=
c.*689A= (n.*689A=)
c.*1755A= (n.*1755A=)
n.4384A=
c.2581A= (p.Arg861=)
c.3340A= (p.Arg1114=)
c.*3045A= (n.*3045A=)
n.3191A=
c.*3123A= (n.*3123A=)
n.282A=
c.3430A= (p.Arg1144=)
c.3388A= (p.Arg1130=)
c.3652A= (p.Arg1218=)
c.3574A= (p.Arg1192=)
c.3541A= (p.Arg1181=)
c.3550A= (p.Arg1184=)
c.2560A= (p.Arg854=)
1g.154584965G>ACA421231511ADARc.3416C>T (n.3416C>T)
c.3552C>T (p.Arg1184=)
c.3405C>T (p.Arg1135=)
c.3174C>T (p.Arg1058=)
c.2637C>T (p.Arg879=)
c.3522C>T (p.Arg1174=)
n.2315C>T
c.3444C>T (p.Arg1148=)
n.3507C>T
c.*997C>T (n.*997C>T)
n.4258C>T
c.*688C>T (n.*688C>T)
c.*1754C>T (n.*1754C>T)
n.4383C>T
c.2580C>T (p.Arg860=)
c.3339C>T (p.Arg1113=)
c.*3044C>T (n.*3044C>T)
n.3190C>T
c.*3122C>T (n.*3122C>T)
n.281C>T
c.3429C>T (p.Arg1143=)
c.3387C>T (p.Arg1129=)
c.3651C>T (p.Arg1217=)
c.3573C>T (p.Arg1191=)
c.3540C>T (p.Arg1180=)
c.3549C>T (p.Arg1183=)
c.2559C>T (p.Arg853=)
1g.154584965G>CCA421231512ADARc.3416C>G (n.3416C>G)
c.3552C>G (p.Arg1184=)
c.3405C>G (p.Arg1135=)
c.3174C>G (p.Arg1058=)
c.2637C>G (p.Arg879=)
c.3522C>G (p.Arg1174=)
n.2315C>G
c.3444C>G (p.Arg1148=)
n.3507C>G
c.*997C>G (n.*997C>G)
n.4258C>G
c.*688C>G (n.*688C>G)
c.*1754C>G (n.*1754C>G)
n.4383C>G
c.2580C>G (p.Arg860=)
c.3339C>G (p.Arg1113=)
c.*3044C>G (n.*3044C>G)
n.3190C>G
c.*3122C>G (n.*3122C>G)
n.281C>G
c.3429C>G (p.Arg1143=)
c.3387C>G (p.Arg1129=)
c.3651C>G (p.Arg1217=)
c.3573C>G (p.Arg1191=)
c.3540C>G (p.Arg1180=)
c.3549C>G (p.Arg1183=)
c.2559C>G (p.Arg853=)
1g.154584965G>TCA421231510ADARc.3416C>A (n.3416C>A)
c.3552C>A (p.Arg1184=)
c.3405C>A (p.Arg1135=)
c.3174C>A (p.Arg1058=)
c.2637C>A (p.Arg879=)
c.3522C>A (p.Arg1174=)
n.2315C>A
c.3444C>A (p.Arg1148=)
n.3507C>A
c.*997C>A (n.*997C>A)
n.4258C>A
c.*688C>A (n.*688C>A)
c.*1754C>A (n.*1754C>A)
n.4383C>A
c.2580C>A (p.Arg860=)
c.3339C>A (p.Arg1113=)
c.*3044C>A (n.*3044C>A)
n.3190C>A
c.*3122C>A (n.*3122C>A)
n.281C>A
c.3429C>A (p.Arg1143=)
c.3387C>A (p.Arg1129=)
c.3651C>A (p.Arg1217=)
c.3573C>A (p.Arg1191=)
c.3540C>A (p.Arg1180=)
c.3549C>A (p.Arg1183=)
c.2559C>A (p.Arg853=)
1g.154584966C>ACA30848656ADARc.3415G>T (n.3415G>T)
c.3551G>T (p.Arg1184Leu)
c.3404G>T (p.Arg1135Leu)
c.3173G>T (p.Arg1058Leu)
c.2636G>T (p.Arg879Leu)
c.3521G>T (p.Arg1174Leu)
n.2314G>T
c.3443G>T (p.Arg1148Leu)
n.3506G>T
c.*996G>T (n.*996G>T)
n.4257G>T
c.*687G>T (n.*687G>T)
c.*1753G>T (n.*1753G>T)
n.4382G>T
c.2579G>T (p.Arg860Leu)
c.3338G>T (p.Arg1113Leu)
c.*3043G>T (n.*3043G>T)
n.3189G>T
c.*3121G>T (n.*3121G>T)
n.280G>T
c.3428G>T (p.Arg1143Leu)
c.3386G>T (p.Arg1129Leu)
c.3650G>T (p.Arg1217Leu)
c.3572G>T (p.Arg1191Leu)
c.3539G>T (p.Arg1180Leu)
c.3548G>T (p.Arg1183Leu)
c.2558G>T (p.Arg853Leu)
 dbSNP
1g.154584966C=CA2480931213ADARc.3415G= (n.3415G=)
c.3551G= (p.Arg1184=)
c.3404G= (p.Arg1135=)
c.3173G= (p.Arg1058=)
c.2636G= (p.Arg879=)
c.3521G= (p.Arg1174=)
n.2314G=
c.3443G= (p.Arg1148=)
n.3506G=
c.*996G= (n.*996G=)
n.4257G=
c.*687G= (n.*687G=)
c.*1753G= (n.*1753G=)
n.4382G=
c.2579G= (p.Arg860=)
c.3338G= (p.Arg1113=)
c.*3043G= (n.*3043G=)
n.3189G=
c.*3121G= (n.*3121G=)
n.280G=
c.3428G= (p.Arg1143=)
c.3386G= (p.Arg1129=)
c.3650G= (p.Arg1217=)
c.3572G= (p.Arg1191=)
c.3539G= (p.Arg1180=)
c.3548G= (p.Arg1183=)
c.2558G= (p.Arg853=)
1g.154584966C>GCA342634775ADARc.3415G>C (n.3415G>C)
c.3551G>C (p.Arg1184Pro)
c.3404G>C (p.Arg1135Pro)
c.3173G>C (p.Arg1058Pro)
c.2636G>C (p.Arg879Pro)
c.3521G>C (p.Arg1174Pro)
n.2314G>C
c.3443G>C (p.Arg1148Pro)
n.3506G>C
c.*996G>C (n.*996G>C)
n.4257G>C
c.*687G>C (n.*687G>C)
c.*1753G>C (n.*1753G>C)
n.4382G>C
c.2579G>C (p.Arg860Pro)
c.3338G>C (p.Arg1113Pro)
c.*3043G>C (n.*3043G>C)
n.3189G>C
c.*3121G>C (n.*3121G>C)
n.280G>C
c.3428G>C (p.Arg1143Pro)
c.3386G>C (p.Arg1129Pro)
c.3650G>C (p.Arg1217Pro)
c.3572G>C (p.Arg1191Pro)
c.3539G>C (p.Arg1180Pro)
c.3548G>C (p.Arg1183Pro)
c.2558G>C (p.Arg853Pro)
1g.154584966C>TCA30848659ADARc.3415G>A (n.3415G>A)
c.3551G>A (p.Arg1184His)
c.3404G>A (p.Arg1135His)
c.3173G>A (p.Arg1058His)
c.2636G>A (p.Arg879His)
c.3521G>A (p.Arg1174His)
n.2314G>A
c.3443G>A (p.Arg1148His)
n.3506G>A
c.*996G>A (n.*996G>A)
n.4257G>A
c.*687G>A (n.*687G>A)
c.*1753G>A (n.*1753G>A)
n.4382G>A
c.2579G>A (p.Arg860His)
c.3338G>A (p.Arg1113His)
c.*3043G>A (n.*3043G>A)
n.3189G>A
c.*3121G>A (n.*3121G>A)
n.280G>A
c.3428G>A (p.Arg1143His)
c.3386G>A (p.Arg1129His)
c.3650G>A (p.Arg1217His)
c.3572G>A (p.Arg1191His)
c.3539G>A (p.Arg1180His)
c.3548G>A (p.Arg1183His)
c.2558G>A (p.Arg853His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.154584967G>ACA342634776ADARc.3414C>T (n.3414C>T)
c.3550C>T (p.Arg1184Cys)
c.3403C>T (p.Arg1135Cys)
c.3172C>T (p.Arg1058Cys)
c.2635C>T (p.Arg879Cys)
c.3520C>T (p.Arg1174Cys)
n.2313C>T
c.3442C>T (p.Arg1148Cys)
n.3505C>T
c.*995C>T (n.*995C>T)
n.4256C>T
c.*686C>T (n.*686C>T)
c.*1752C>T (n.*1752C>T)
n.4381C>T
c.2578C>T (p.Arg860Cys)
c.3337C>T (p.Arg1113Cys)
c.*3042C>T (n.*3042C>T)
n.3188C>T
c.*3120C>T (n.*3120C>T)
n.279C>T
c.3427C>T (p.Arg1143Cys)
c.3385C>T (p.Arg1129Cys)
c.3649C>T (p.Arg1217Cys)
c.3571C>T (p.Arg1191Cys)
c.3538C>T (p.Arg1180Cys)
c.3547C>T (p.Arg1183Cys)
c.2557C>T (p.Arg853Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154584967G>CCA342634777ADARc.3414C>G (n.3414C>G)
c.3550C>G (p.Arg1184Gly)
c.3403C>G (p.Arg1135Gly)
c.3172C>G (p.Arg1058Gly)
c.2635C>G (p.Arg879Gly)
c.3520C>G (p.Arg1174Gly)
n.2313C>G
c.3442C>G (p.Arg1148Gly)
n.3505C>G
c.*995C>G (n.*995C>G)
n.4256C>G
c.*686C>G (n.*686C>G)
c.*1752C>G (n.*1752C>G)
n.4381C>G
c.2578C>G (p.Arg860Gly)
c.3337C>G (p.Arg1113Gly)
c.*3042C>G (n.*3042C>G)
n.3188C>G
c.*3120C>G (n.*3120C>G)
n.279C>G
c.3427C>G (p.Arg1143Gly)
c.3385C>G (p.Arg1129Gly)
c.3649C>G (p.Arg1217Gly)
c.3571C>G (p.Arg1191Gly)
c.3538C>G (p.Arg1180Gly)
c.3547C>G (p.Arg1183Gly)
c.2557C>G (p.Arg853Gly)
 ClinVar dbSNP
1g.154584967G=CA2480931214ADARc.3414C= (n.3414C=)
c.3550C= (p.Arg1184=)
c.3403C= (p.Arg1135=)
c.3172C= (p.Arg1058=)
c.2635C= (p.Arg879=)
c.3520C= (p.Arg1174=)
n.2313C=
c.3442C= (p.Arg1148=)
n.3505C=
c.*995C= (n.*995C=)
n.4256C=
c.*686C= (n.*686C=)
c.*1752C= (n.*1752C=)
n.4381C=
c.2578C= (p.Arg860=)
c.3337C= (p.Arg1113=)
c.*3042C= (n.*3042C=)
n.3188C=
c.*3120C= (n.*3120C=)
n.279C=
c.3427C= (p.Arg1143=)
c.3385C= (p.Arg1129=)
c.3649C= (p.Arg1217=)
c.3571C= (p.Arg1191=)
c.3538C= (p.Arg1180=)
c.3547C= (p.Arg1183=)
c.2557C= (p.Arg853=)
1g.154584967G>TCA342634778ADARc.3414C>A (n.3414C>A)
c.3550C>A (p.Arg1184Ser)
c.3403C>A (p.Arg1135Ser)
c.3172C>A (p.Arg1058Ser)
c.2635C>A (p.Arg879Ser)
c.3520C>A (p.Arg1174Ser)
n.2313C>A
c.3442C>A (p.Arg1148Ser)
n.3505C>A
c.*995C>A (n.*995C>A)
n.4256C>A
c.*686C>A (n.*686C>A)
c.*1752C>A (n.*1752C>A)
n.4381C>A
c.2578C>A (p.Arg860Ser)
c.3337C>A (p.Arg1113Ser)
c.*3042C>A (n.*3042C>A)
n.3188C>A
c.*3120C>A (n.*3120C>A)
n.279C>A
c.3427C>A (p.Arg1143Ser)
c.3385C>A (p.Arg1129Ser)
c.3649C>A (p.Arg1217Ser)
c.3571C>A (p.Arg1191Ser)
c.3538C>A (p.Arg1180Ser)
c.3547C>A (p.Arg1183Ser)
c.2557C>A (p.Arg853Ser)
1g.154584967_154584971delinsGGTAACA2480931215ADARc.3410_3414delinsTTACC (n.3410_3414delinsTTACC)
c.3546_3550delinsTTACC (p.Arg1182=)
c.3399_3403delinsTTACC (p.Arg1133=)
c.3168_3172delinsTTACC (p.Arg1056=)
c.2631_2635delinsTTACC (p.Arg877=)
c.3516_3520delinsTTACC (p.Arg1172=)
n.2309_2313delinsTTACC
c.3438_3442delinsTTACC (p.Arg1146=)
n.3501_3505delinsTTACC
c.*991_*995delinsTTACC (n.*991_*995delinsTTACC)
n.4252_4256delinsTTACC
c.*682_*686delinsTTACC (n.*682_*686delinsTTACC)
c.*1748_*1752delinsTTACC (n.*1748_*1752delinsTTACC)
n.4377_4381delinsTTACC
c.2574_2578delinsTTACC (p.Arg858=)
c.3333_3337delinsTTACC (p.Arg1111=)
c.*3038_*3042delinsTTACC (n.*3038_*3042delinsTTACC)
n.3184_3188delinsTTACC
c.*3116_*3120delinsTTACC (n.*3116_*3120delinsTTACC)
n.275_279delinsTTACC
c.3423_3427delinsTTACC (p.Arg1141=)
c.3381_3385delinsTTACC (p.Arg1127=)
c.3645_3649delinsTTACC (p.Arg1215=)
c.3567_3571delinsTTACC (p.Arg1189=)
c.3534_3538delinsTTACC (p.Arg1178=)
c.3543_3547delinsTTACC (p.Arg1181=)
c.2553_2557delinsTTACC (p.Arg851=)
1g.154584968G>ACA1130927ADARc.3413C>T (n.3413C>T)
c.3549C>T (p.Tyr1183=)
c.3402C>T (p.Tyr1134=)
c.3171C>T (p.Tyr1057=)
c.2634C>T (p.Tyr878=)
c.3519C>T (p.Tyr1173=)
n.2312C>T
c.3441C>T (p.Tyr1147=)
n.3504C>T
c.*994C>T (n.*994C>T)
n.4255C>T
c.*685C>T (n.*685C>T)
c.*1751C>T (n.*1751C>T)
n.4380C>T
c.2577C>T (p.Tyr859=)
c.3336C>T (p.Tyr1112=)
c.*3041C>T (n.*3041C>T)
n.3187C>T
c.*3119C>T (n.*3119C>T)
n.278C>T
c.3426C>T (p.Tyr1142=)
c.3384C>T (p.Tyr1128=)
c.3648C>T (p.Tyr1216=)
c.3570C>T (p.Tyr1190=)
c.3537C>T (p.Tyr1179=)
c.3546C>T (p.Tyr1182=)
c.2556C>T (p.Tyr852=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584968G>CCA342634780ADARc.3413C>G (n.3413C>G)
c.3549C>G (p.Tyr1183Ter)
c.3402C>G (p.Tyr1134Ter)
c.3171C>G (p.Tyr1057Ter)
c.2634C>G (p.Tyr878Ter)
c.3519C>G (p.Tyr1173Ter)
n.2312C>G
c.3441C>G (p.Tyr1147Ter)
n.3504C>G
c.*994C>G (n.*994C>G)
n.4255C>G
c.*685C>G (n.*685C>G)
c.*1751C>G (n.*1751C>G)
n.4380C>G
c.2577C>G (p.Tyr859Ter)
c.3336C>G (p.Tyr1112Ter)
c.*3041C>G (n.*3041C>G)
n.3187C>G
c.*3119C>G (n.*3119C>G)
n.278C>G
c.3426C>G (p.Tyr1142Ter)
c.3384C>G (p.Tyr1128Ter)
c.3648C>G (p.Tyr1216Ter)
c.3570C>G (p.Tyr1190Ter)
c.3537C>G (p.Tyr1179Ter)
c.3546C>G (p.Tyr1182Ter)
c.2556C>G (p.Tyr852Ter)
 dbSNP
1g.154584968G=CA2480931217ADARc.3413C= (n.3413C=)
c.3549C= (p.Tyr1183=)
c.3402C= (p.Tyr1134=)
c.3171C= (p.Tyr1057=)
c.2634C= (p.Tyr878=)
c.3519C= (p.Tyr1173=)
n.2312C=
c.3441C= (p.Tyr1147=)
n.3504C=
c.*994C= (n.*994C=)
n.4255C=
c.*685C= (n.*685C=)
c.*1751C= (n.*1751C=)
n.4380C=
c.2577C= (p.Tyr859=)
c.3336C= (p.Tyr1112=)
c.*3041C= (n.*3041C=)
n.3187C=
c.*3119C= (n.*3119C=)
n.278C=
c.3426C= (p.Tyr1142=)
c.3384C= (p.Tyr1128=)
c.3648C= (p.Tyr1216=)
c.3570C= (p.Tyr1190=)
c.3537C= (p.Tyr1179=)
c.3546C= (p.Tyr1182=)
c.2556C= (p.Tyr852=)
1g.154584968G>TCA342634779ADARc.3413C>A (n.3413C>A)
c.3549C>A (p.Tyr1183Ter)
c.3402C>A (p.Tyr1134Ter)
c.3171C>A (p.Tyr1057Ter)
c.2634C>A (p.Tyr878Ter)
c.3519C>A (p.Tyr1173Ter)
n.2312C>A
c.3441C>A (p.Tyr1147Ter)
n.3504C>A
c.*994C>A (n.*994C>A)
n.4255C>A
c.*685C>A (n.*685C>A)
c.*1751C>A (n.*1751C>A)
n.4380C>A
c.2577C>A (p.Tyr859Ter)
c.3336C>A (p.Tyr1112Ter)
c.*3041C>A (n.*3041C>A)
n.3187C>A
c.*3119C>A (n.*3119C>A)
n.278C>A
c.3426C>A (p.Tyr1142Ter)
c.3384C>A (p.Tyr1128Ter)
c.3648C>A (p.Tyr1216Ter)
c.3570C>A (p.Tyr1190Ter)
c.3537C>A (p.Tyr1179Ter)
c.3546C>A (p.Tyr1182Ter)
c.2556C>A (p.Tyr852Ter)
1g.154584968_154584971delCA2480931216ADARc.3410_3413del (n.3410_3413del)
c.3546_3549del (p.Tyr1183AlafsTer5)
c.3399_3402del (p.Tyr1134AlafsTer5)
c.3168_3171del (p.Tyr1057AlafsTer5)
c.2631_2634del (p.Tyr878AlafsTer5)
c.3516_3519del (p.Tyr1173AlafsTer5)
n.2309_2312del
c.3438_3441del (p.Tyr1147AlafsTer5)
n.3501_3504del
c.*991_*994del (n.*991_*994del)
n.4252_4255del
c.*682_*685del (n.*682_*685del)
c.*1748_*1751del (n.*1748_*1751del)
n.4377_4380del
c.2574_2577del (p.Tyr859AlafsTer5)
c.3333_3336del (p.Tyr1112AlafsTer5)
c.*3038_*3041del (n.*3038_*3041del)
n.3184_3187del
c.*3116_*3119del (n.*3116_*3119del)
n.275_278del
c.3423_3426del (p.Tyr1142AlafsTer5)
c.3381_3384del (p.Tyr1128AlafsTer5)
c.3645_3648del (p.Tyr1216AlafsTer5)
c.3567_3570del (p.Tyr1190AlafsTer5)
c.3534_3537del (p.Tyr1179AlafsTer5)
c.3543_3546del (p.Tyr1182AlafsTer5)
c.2553_2556del (p.Tyr852AlafsTer5)
 ClinVar dbSNP
1g.154584969T>ACA342634781ADARc.3412A>T (n.3412A>T)
c.3548A>T (p.Tyr1183Phe)
c.3401A>T (p.Tyr1134Phe)
c.3170A>T (p.Tyr1057Phe)
c.2633A>T (p.Tyr878Phe)
c.3518A>T (p.Tyr1173Phe)
n.2311A>T
c.3440A>T (p.Tyr1147Phe)
n.3503A>T
c.*993A>T (n.*993A>T)
n.4254A>T
c.*684A>T (n.*684A>T)
c.*1750A>T (n.*1750A>T)
n.4379A>T
c.2576A>T (p.Tyr859Phe)
c.3335A>T (p.Tyr1112Phe)
c.*3040A>T (n.*3040A>T)
n.3186A>T
c.*3118A>T (n.*3118A>T)
n.277A>T
c.3425A>T (p.Tyr1142Phe)
c.3383A>T (p.Tyr1128Phe)
c.3647A>T (p.Tyr1216Phe)
c.3569A>T (p.Tyr1190Phe)
c.3536A>T (p.Tyr1179Phe)
c.3545A>T (p.Tyr1182Phe)
c.2555A>T (p.Tyr852Phe)
1g.154584969T>CCA342634782ADARc.3412A>G (n.3412A>G)
c.3548A>G (p.Tyr1183Cys)
c.3401A>G (p.Tyr1134Cys)
c.3170A>G (p.Tyr1057Cys)
c.2633A>G (p.Tyr878Cys)
c.3518A>G (p.Tyr1173Cys)
n.2311A>G
c.3440A>G (p.Tyr1147Cys)
n.3503A>G
c.*993A>G (n.*993A>G)
n.4254A>G
c.*684A>G (n.*684A>G)
c.*1750A>G (n.*1750A>G)
n.4379A>G
c.2576A>G (p.Tyr859Cys)
c.3335A>G (p.Tyr1112Cys)
c.*3040A>G (n.*3040A>G)
n.3186A>G
c.*3118A>G (n.*3118A>G)
n.277A>G
c.3425A>G (p.Tyr1142Cys)
c.3383A>G (p.Tyr1128Cys)
c.3647A>G (p.Tyr1216Cys)
c.3569A>G (p.Tyr1190Cys)
c.3536A>G (p.Tyr1179Cys)
c.3545A>G (p.Tyr1182Cys)
c.2555A>G (p.Tyr852Cys)
 gnomAD v4
1g.154584969T>GCA342634783ADARc.3412A>C (n.3412A>C)
c.3548A>C (p.Tyr1183Ser)
c.3401A>C (p.Tyr1134Ser)
c.3170A>C (p.Tyr1057Ser)
c.2633A>C (p.Tyr878Ser)
c.3518A>C (p.Tyr1173Ser)
n.2311A>C
c.3440A>C (p.Tyr1147Ser)
n.3503A>C
c.*993A>C (n.*993A>C)
n.4254A>C
c.*684A>C (n.*684A>C)
c.*1750A>C (n.*1750A>C)
n.4379A>C
c.2576A>C (p.Tyr859Ser)
c.3335A>C (p.Tyr1112Ser)
c.*3040A>C (n.*3040A>C)
n.3186A>C
c.*3118A>C (n.*3118A>C)
n.277A>C
c.3425A>C (p.Tyr1142Ser)
c.3383A>C (p.Tyr1128Ser)
c.3647A>C (p.Tyr1216Ser)
c.3569A>C (p.Tyr1190Ser)
c.3536A>C (p.Tyr1179Ser)
c.3545A>C (p.Tyr1182Ser)
c.2555A>C (p.Tyr852Ser)
1g.154584970A>CCA342634784ADARc.3411T>G (n.3411T>G)
c.3547T>G (p.Tyr1183Asp)
c.3400T>G (p.Tyr1134Asp)
c.3169T>G (p.Tyr1057Asp)
c.2632T>G (p.Tyr878Asp)
c.3517T>G (p.Tyr1173Asp)
n.2310T>G
c.3439T>G (p.Tyr1147Asp)
n.3502T>G
c.*992T>G (n.*992T>G)
n.4253T>G
c.*683T>G (n.*683T>G)
c.*1749T>G (n.*1749T>G)
n.4378T>G
c.2575T>G (p.Tyr859Asp)
c.3334T>G (p.Tyr1112Asp)
c.*3039T>G (n.*3039T>G)
n.3185T>G
c.*3117T>G (n.*3117T>G)
n.276T>G
c.3424T>G (p.Tyr1142Asp)
c.3382T>G (p.Tyr1128Asp)
c.3646T>G (p.Tyr1216Asp)
c.3568T>G (p.Tyr1190Asp)
c.3535T>G (p.Tyr1179Asp)
c.3544T>G (p.Tyr1182Asp)
c.2554T>G (p.Tyr852Asp)
1g.154584970A>GCA342634785ADARc.3411T>C (n.3411T>C)
c.3547T>C (p.Tyr1183His)
c.3400T>C (p.Tyr1134His)
c.3169T>C (p.Tyr1057His)
c.2632T>C (p.Tyr878His)
c.3517T>C (p.Tyr1173His)
n.2310T>C
c.3439T>C (p.Tyr1147His)
n.3502T>C
c.*992T>C (n.*992T>C)
n.4253T>C
c.*683T>C (n.*683T>C)
c.*1749T>C (n.*1749T>C)
n.4378T>C
c.2575T>C (p.Tyr859His)
c.3334T>C (p.Tyr1112His)
c.*3039T>C (n.*3039T>C)
n.3185T>C
c.*3117T>C (n.*3117T>C)
n.276T>C
c.3424T>C (p.Tyr1142His)
c.3382T>C (p.Tyr1128His)
c.3646T>C (p.Tyr1216His)
c.3568T>C (p.Tyr1190His)
c.3535T>C (p.Tyr1179His)
c.3544T>C (p.Tyr1182His)
c.2554T>C (p.Tyr852His)
1g.154584970A>TCA342634786ADARc.3411T>A (n.3411T>A)
c.3547T>A (p.Tyr1183Asn)
c.3400T>A (p.Tyr1134Asn)
c.3169T>A (p.Tyr1057Asn)
c.2632T>A (p.Tyr878Asn)
c.3517T>A (p.Tyr1173Asn)
n.2310T>A
c.3439T>A (p.Tyr1147Asn)
n.3502T>A
c.*992T>A (n.*992T>A)
n.4253T>A
c.*683T>A (n.*683T>A)
c.*1749T>A (n.*1749T>A)
n.4378T>A
c.2575T>A (p.Tyr859Asn)
c.3334T>A (p.Tyr1112Asn)
c.*3039T>A (n.*3039T>A)
n.3185T>A
c.*3117T>A (n.*3117T>A)
n.276T>A
c.3424T>A (p.Tyr1142Asn)
c.3382T>A (p.Tyr1128Asn)
c.3646T>A (p.Tyr1216Asn)
c.3568T>A (p.Tyr1190Asn)
c.3535T>A (p.Tyr1179Asn)
c.3544T>A (p.Tyr1182Asn)
c.2554T>A (p.Tyr852Asn)
1g.154584971A>CCA421231515ADARc.3410T>G (n.3410T>G)
c.3546T>G (p.Arg1182=)
c.3399T>G (p.Arg1133=)
c.3168T>G (p.Arg1056=)
c.2631T>G (p.Arg877=)
c.3516T>G (p.Arg1172=)
n.2309T>G
c.3438T>G (p.Arg1146=)
n.3501T>G
c.*991T>G (n.*991T>G)
n.4252T>G
c.*682T>G (n.*682T>G)
c.*1748T>G (n.*1748T>G)
n.4377T>G
c.2574T>G (p.Arg858=)
c.3333T>G (p.Arg1111=)
c.*3038T>G (n.*3038T>G)
n.3184T>G
c.*3116T>G (n.*3116T>G)
n.275T>G
c.3423T>G (p.Arg1141=)
c.3381T>G (p.Arg1127=)
c.3645T>G (p.Arg1215=)
c.3567T>G (p.Arg1189=)
c.3534T>G (p.Arg1178=)
c.3543T>G (p.Arg1181=)
c.2553T>G (p.Arg851=)
1g.154584971A>GCA421231516ADARc.3410T>C (n.3410T>C)
c.3546T>C (p.Arg1182=)
c.3399T>C (p.Arg1133=)
c.3168T>C (p.Arg1056=)
c.2631T>C (p.Arg877=)
c.3516T>C (p.Arg1172=)
n.2309T>C
c.3438T>C (p.Arg1146=)
n.3501T>C
c.*991T>C (n.*991T>C)
n.4252T>C
c.*682T>C (n.*682T>C)
c.*1748T>C (n.*1748T>C)
n.4377T>C
c.2574T>C (p.Arg858=)
c.3333T>C (p.Arg1111=)
c.*3038T>C (n.*3038T>C)
n.3184T>C
c.*3116T>C (n.*3116T>C)
n.275T>C
c.3423T>C (p.Arg1141=)
c.3381T>C (p.Arg1127=)
c.3645T>C (p.Arg1215=)
c.3567T>C (p.Arg1189=)
c.3534T>C (p.Arg1178=)
c.3543T>C (p.Arg1181=)
c.2553T>C (p.Arg851=)
1g.154584971A>TCA421231517ADARc.3410T>A (n.3410T>A)
c.3546T>A (p.Arg1182=)
c.3399T>A (p.Arg1133=)
c.3168T>A (p.Arg1056=)
c.2631T>A (p.Arg877=)
c.3516T>A (p.Arg1172=)
n.2309T>A
c.3438T>A (p.Arg1146=)
n.3501T>A
c.*991T>A (n.*991T>A)
n.4252T>A
c.*682T>A (n.*682T>A)
c.*1748T>A (n.*1748T>A)
n.4377T>A
c.2574T>A (p.Arg858=)
c.3333T>A (p.Arg1111=)
c.*3038T>A (n.*3038T>A)
n.3184T>A
c.*3116T>A (n.*3116T>A)
n.275T>A
c.3423T>A (p.Arg1141=)
c.3381T>A (p.Arg1127=)
c.3645T>A (p.Arg1215=)
c.3567T>A (p.Arg1189=)
c.3534T>A (p.Arg1178=)
c.3543T>A (p.Arg1181=)
c.2553T>A (p.Arg851=)
1g.154584972C>ACA342634788ADARc.3409G>T (n.3409G>T)
c.3545G>T (p.Arg1182Leu)
c.3398G>T (p.Arg1133Leu)
c.3167G>T (p.Arg1056Leu)
c.2630G>T (p.Arg877Leu)
c.3515G>T (p.Arg1172Leu)
n.2308G>T
c.3437G>T (p.Arg1146Leu)
n.3500G>T
c.*990G>T (n.*990G>T)
n.4251G>T
c.*681G>T (n.*681G>T)
c.*1747G>T (n.*1747G>T)
n.4376G>T
c.2573G>T (p.Arg858Leu)
c.3332G>T (p.Arg1111Leu)
c.*3037G>T (n.*3037G>T)
n.3183G>T
c.*3115G>T (n.*3115G>T)
n.274G>T
c.3422G>T (p.Arg1141Leu)
c.3380G>T (p.Arg1127Leu)
c.3644G>T (p.Arg1215Leu)
c.3566G>T (p.Arg1189Leu)
c.3533G>T (p.Arg1178Leu)
c.3542G>T (p.Arg1181Leu)
c.2552G>T (p.Arg851Leu)
1g.154584972C=CA1148045304ADARc.3409G= (n.3409G=)
c.3545G= (p.Arg1182=)
c.3398G= (p.Arg1133=)
c.3167G= (p.Arg1056=)
c.2630G= (p.Arg877=)
c.3515G= (p.Arg1172=)
n.2308G=
c.3437G= (p.Arg1146=)
n.3500G=
c.*990G= (n.*990G=)
n.4251G=
c.*681G= (n.*681G=)
c.*1747G= (n.*1747G=)
n.4376G=
c.2573G= (p.Arg858=)
c.3332G= (p.Arg1111=)
c.*3037G= (n.*3037G=)
n.3183G=
c.*3115G= (n.*3115G=)
n.274G=
c.3422G= (p.Arg1141=)
c.3380G= (p.Arg1127=)
c.3644G= (p.Arg1215=)
c.3566G= (p.Arg1189=)
c.3533G= (p.Arg1178=)
c.3542G= (p.Arg1181=)
c.2552G= (p.Arg851=)
1g.154584972C>GCA342634787ADARc.3409G>C (n.3409G>C)
c.3545G>C (p.Arg1182Pro)
c.3398G>C (p.Arg1133Pro)
c.3167G>C (p.Arg1056Pro)
c.2630G>C (p.Arg877Pro)
c.3515G>C (p.Arg1172Pro)
n.2308G>C
c.3437G>C (p.Arg1146Pro)
n.3500G>C
c.*990G>C (n.*990G>C)
n.4251G>C
c.*681G>C (n.*681G>C)
c.*1747G>C (n.*1747G>C)
n.4376G>C
c.2573G>C (p.Arg858Pro)
c.3332G>C (p.Arg1111Pro)
c.*3037G>C (n.*3037G>C)
n.3183G>C
c.*3115G>C (n.*3115G>C)
n.274G>C
c.3422G>C (p.Arg1141Pro)
c.3380G>C (p.Arg1127Pro)
c.3644G>C (p.Arg1215Pro)
c.3566G>C (p.Arg1189Pro)
c.3533G>C (p.Arg1178Pro)
c.3542G>C (p.Arg1181Pro)
c.2552G>C (p.Arg851Pro)
1g.154584972C>TCA1130928ADARc.3409G>A (n.3409G>A)
c.3545G>A (p.Arg1182His)
c.3398G>A (p.Arg1133His)
c.3167G>A (p.Arg1056His)
c.2630G>A (p.Arg877His)
c.3515G>A (p.Arg1172His)
n.2308G>A
c.3437G>A (p.Arg1146His)
n.3500G>A
c.*990G>A (n.*990G>A)
n.4251G>A
c.*681G>A (n.*681G>A)
c.*1747G>A (n.*1747G>A)
n.4376G>A
c.2573G>A (p.Arg858His)
c.3332G>A (p.Arg1111His)
c.*3037G>A (n.*3037G>A)
n.3183G>A
c.*3115G>A (n.*3115G>A)
n.274G>A
c.3422G>A (p.Arg1141His)
c.3380G>A (p.Arg1127His)
c.3644G>A (p.Arg1215His)
c.3566G>A (p.Arg1189His)
c.3533G>A (p.Arg1178His)
c.3542G>A (p.Arg1181His)
c.2552G>A (p.Arg851His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584972_154584973delinsCGCA2480931218ADARc.3408_3409delinsCG (n.3408_3409delinsCG)
c.3544_3545delinsCG (p.Arg1182=)
c.3397_3398delinsCG (p.Arg1133=)
c.3166_3167delinsCG (p.Arg1056=)
c.2629_2630delinsCG (p.Arg877=)
c.3514_3515delinsCG (p.Arg1172=)
n.2307_2308delinsCG
c.3436_3437delinsCG (p.Arg1146=)
n.3499_3500delinsCG
c.*989_*990delinsCG (n.*989_*990delinsCG)
n.4250_4251delinsCG
c.*680_*681delinsCG (n.*680_*681delinsCG)
c.*1746_*1747delinsCG (n.*1746_*1747delinsCG)
n.4375_4376delinsCG
c.2572_2573delinsCG (p.Arg858=)
c.3331_3332delinsCG (p.Arg1111=)
c.*3036_*3037delinsCG (n.*3036_*3037delinsCG)
n.3182_3183delinsCG
c.*3114_*3115delinsCG (n.*3114_*3115delinsCG)
n.273_274delinsCG
c.3421_3422delinsCG (p.Arg1141=)
c.3379_3380delinsCG (p.Arg1127=)
c.3643_3644delinsCG (p.Arg1215=)
c.3565_3566delinsCG (p.Arg1189=)
c.3532_3533delinsCG (p.Arg1178=)
c.3541_3542delinsCG (p.Arg1181=)
c.2551_2552delinsCG (p.Arg851=)
1g.154584973G>ACA1130929ADARc.3408C>T (n.3408C>T)
c.3544C>T (p.Arg1182Cys)
c.3397C>T (p.Arg1133Cys)
c.3166C>T (p.Arg1056Cys)
c.2629C>T (p.Arg877Cys)
c.3514C>T (p.Arg1172Cys)
n.2307C>T
c.3436C>T (p.Arg1146Cys)
n.3499C>T
c.*989C>T (n.*989C>T)
n.4250C>T
c.*680C>T (n.*680C>T)
c.*1746C>T (n.*1746C>T)
n.4375C>T
c.2572C>T (p.Arg858Cys)
c.3331C>T (p.Arg1111Cys)
c.*3036C>T (n.*3036C>T)
n.3182C>T
c.*3114C>T (n.*3114C>T)
n.273C>T
c.3421C>T (p.Arg1141Cys)
c.3379C>T (p.Arg1127Cys)
c.3643C>T (p.Arg1215Cys)
c.3565C>T (p.Arg1189Cys)
c.3532C>T (p.Arg1178Cys)
c.3541C>T (p.Arg1181Cys)
c.2551C>T (p.Arg851Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584973G>CCA342634789ADARc.3408C>G (n.3408C>G)
c.3544C>G (p.Arg1182Gly)
c.3397C>G (p.Arg1133Gly)
c.3166C>G (p.Arg1056Gly)
c.2629C>G (p.Arg877Gly)
c.3514C>G (p.Arg1172Gly)
n.2307C>G
c.3436C>G (p.Arg1146Gly)
n.3499C>G
c.*989C>G (n.*989C>G)
n.4250C>G
c.*680C>G (n.*680C>G)
c.*1746C>G (n.*1746C>G)
n.4375C>G
c.2572C>G (p.Arg858Gly)
c.3331C>G (p.Arg1111Gly)
c.*3036C>G (n.*3036C>G)
n.3182C>G
c.*3114C>G (n.*3114C>G)
n.273C>G
c.3421C>G (p.Arg1141Gly)
c.3379C>G (p.Arg1127Gly)
c.3643C>G (p.Arg1215Gly)
c.3565C>G (p.Arg1189Gly)
c.3532C>G (p.Arg1178Gly)
c.3541C>G (p.Arg1181Gly)
c.2551C>G (p.Arg851Gly)
 gnomAD v4
1g.154584973G=CA2480931219ADARc.3408C= (n.3408C=)
c.3544C= (p.Arg1182=)
c.3397C= (p.Arg1133=)
c.3166C= (p.Arg1056=)
c.2629C= (p.Arg877=)
c.3514C= (p.Arg1172=)
n.2307C=
c.3436C= (p.Arg1146=)
n.3499C=
c.*989C= (n.*989C=)
n.4250C=
c.*680C= (n.*680C=)
c.*1746C= (n.*1746C=)
n.4375C=
c.2572C= (p.Arg858=)
c.3331C= (p.Arg1111=)
c.*3036C= (n.*3036C=)
n.3182C=
c.*3114C= (n.*3114C=)
n.273C=
c.3421C= (p.Arg1141=)
c.3379C= (p.Arg1127=)
c.3643C= (p.Arg1215=)
c.3565C= (p.Arg1189=)
c.3532C= (p.Arg1178=)
c.3541C= (p.Arg1181=)
c.2551C= (p.Arg851=)
1g.154584973G>TCA342634790ADARc.3408C>A (n.3408C>A)
c.3544C>A (p.Arg1182Ser)
c.3397C>A (p.Arg1133Ser)
c.3166C>A (p.Arg1056Ser)
c.2629C>A (p.Arg877Ser)
c.3514C>A (p.Arg1172Ser)
n.2307C>A
c.3436C>A (p.Arg1146Ser)
n.3499C>A
c.*989C>A (n.*989C>A)
n.4250C>A
c.*680C>A (n.*680C>A)
c.*1746C>A (n.*1746C>A)
n.4375C>A
c.2572C>A (p.Arg858Ser)
c.3331C>A (p.Arg1111Ser)
c.*3036C>A (n.*3036C>A)
n.3182C>A
c.*3114C>A (n.*3114C>A)
n.273C>A
c.3421C>A (p.Arg1141Ser)
c.3379C>A (p.Arg1127Ser)
c.3643C>A (p.Arg1215Ser)
c.3565C>A (p.Arg1189Ser)
c.3532C>A (p.Arg1178Ser)
c.3541C>A (p.Arg1181Ser)
c.2551C>A (p.Arg851Ser)
 gnomAD v4
1g.154584974dupCA2586967336ADARc.3408dup (n.3408dup)
c.3544dup (p.Arg1182ProfsTer13)
c.3397dup (p.Arg1133ProfsTer13)
c.3166dup (p.Arg1056ProfsTer13)
c.2629dup (p.Arg877ProfsTer13)
c.3514dup (p.Arg1172ProfsTer13)
n.2307dup
c.3436dup (p.Arg1146ProfsTer13)
n.3499dup
c.*989dup (n.*989dup)
n.4250dup
c.*680dup (n.*680dup)
c.*1746dup (n.*1746dup)
n.4375dup
c.2572dup (p.Arg858ProfsTer13)
c.3331dup (p.Arg1111ProfsTer13)
c.*3036dup (n.*3036dup)
n.3182dup
c.*3114dup (n.*3114dup)
n.273dup
c.3421dup (p.Arg1141ProfsTer13)
c.3379dup (p.Arg1127ProfsTer13)
c.3643dup (p.Arg1215ProfsTer13)
c.3565dup (p.Arg1189ProfsTer13)
c.3532dup (p.Arg1178ProfsTer13)
c.3541dup (p.Arg1181ProfsTer13)
c.2551dup (p.Arg851ProfsTer13)
1g.154584974delCA526666225ADARc.3408del (n.3408del)
c.3544del (p.Arg1182ValfsTer7)
c.3397del (p.Arg1133ValfsTer7)
c.3166del (p.Arg1056ValfsTer7)
c.2629del (p.Arg877ValfsTer7)
c.3514del (p.Arg1172ValfsTer7)
n.2307del
c.3436del (p.Arg1146ValfsTer7)
n.3499del
c.*989del (n.*989del)
n.4250del
c.*680del (n.*680del)
c.*1746del (n.*1746del)
n.4375del
c.2572del (p.Arg858ValfsTer7)
c.3331del (p.Arg1111ValfsTer7)
c.*3036del (n.*3036del)
n.3182del
c.*3114del (n.*3114del)
n.273del
c.3421del (p.Arg1141ValfsTer7)
c.3379del (p.Arg1127ValfsTer7)
c.3643del (p.Arg1215ValfsTer7)
c.3565del (p.Arg1189ValfsTer7)
c.3532del (p.Arg1178ValfsTer7)
c.3541del (p.Arg1181ValfsTer7)
c.2551del (p.Arg851ValfsTer7)
 dbSNP gnomAD v2 gnomAD v4
1g.154584974G>ACA421231519ADARc.3407C>T (n.3407C>T)
c.3543C>T (p.Phe1181=)
c.3396C>T (p.Phe1132=)
c.3165C>T (p.Phe1055=)
c.2628C>T (p.Phe876=)
c.3513C>T (p.Phe1171=)
n.2306C>T
c.3435C>T (p.Phe1145=)
n.3498C>T
c.*988C>T (n.*988C>T)
n.4249C>T
c.*679C>T (n.*679C>T)
c.*1745C>T (n.*1745C>T)
n.4374C>T
c.2571C>T (p.Phe857=)
c.3330C>T (p.Phe1110=)
c.*3035C>T (n.*3035C>T)
n.3181C>T
c.*3113C>T (n.*3113C>T)
n.272C>T
c.3420C>T (p.Phe1140=)
c.3378C>T (p.Phe1126=)
c.3642C>T (p.Phe1214=)
c.3564C>T (p.Phe1188=)
c.3531C>T (p.Phe1177=)
c.3540C>T (p.Phe1180=)
c.2550C>T (p.Phe850=)
 gnomAD v4
1g.154584974G>CCA342634791ADARc.3407C>G (n.3407C>G)
c.3543C>G (p.Phe1181Leu)
c.3396C>G (p.Phe1132Leu)
c.3165C>G (p.Phe1055Leu)
c.2628C>G (p.Phe876Leu)
c.3513C>G (p.Phe1171Leu)
n.2306C>G
c.3435C>G (p.Phe1145Leu)
n.3498C>G
c.*988C>G (n.*988C>G)
n.4249C>G
c.*679C>G (n.*679C>G)
c.*1745C>G (n.*1745C>G)
n.4374C>G
c.2571C>G (p.Phe857Leu)
c.3330C>G (p.Phe1110Leu)
c.*3035C>G (n.*3035C>G)
n.3181C>G
c.*3113C>G (n.*3113C>G)
n.272C>G
c.3420C>G (p.Phe1140Leu)
c.3378C>G (p.Phe1126Leu)
c.3642C>G (p.Phe1214Leu)
c.3564C>G (p.Phe1188Leu)
c.3531C>G (p.Phe1177Leu)
c.3540C>G (p.Phe1180Leu)
c.2550C>G (p.Phe850Leu)
1g.154584974G>TCA342634792ADARc.3407C>A (n.3407C>A)
c.3543C>A (p.Phe1181Leu)
c.3396C>A (p.Phe1132Leu)
c.3165C>A (p.Phe1055Leu)
c.2628C>A (p.Phe876Leu)
c.3513C>A (p.Phe1171Leu)
n.2306C>A
c.3435C>A (p.Phe1145Leu)
n.3498C>A
c.*988C>A (n.*988C>A)
n.4249C>A
c.*679C>A (n.*679C>A)
c.*1745C>A (n.*1745C>A)
n.4374C>A
c.2571C>A (p.Phe857Leu)
c.3330C>A (p.Phe1110Leu)
c.*3035C>A (n.*3035C>A)
n.3181C>A
c.*3113C>A (n.*3113C>A)
n.272C>A
c.3420C>A (p.Phe1140Leu)
c.3378C>A (p.Phe1126Leu)
c.3642C>A (p.Phe1214Leu)
c.3564C>A (p.Phe1188Leu)
c.3531C>A (p.Phe1177Leu)
c.3540C>A (p.Phe1180Leu)
c.2550C>A (p.Phe850Leu)
1g.154584975A>CCA342634793ADARc.3406T>G (n.3406T>G)
c.3542T>G (p.Phe1181Cys)
c.3395T>G (p.Phe1132Cys)
c.3164T>G (p.Phe1055Cys)
c.2627T>G (p.Phe876Cys)
c.3512T>G (p.Phe1171Cys)
n.2305T>G
c.3434T>G (p.Phe1145Cys)
n.3497T>G
c.*987T>G (n.*987T>G)
n.4248T>G
c.*678T>G (n.*678T>G)
c.*1744T>G (n.*1744T>G)
n.4373T>G
c.2570T>G (p.Phe857Cys)
c.3329T>G (p.Phe1110Cys)
c.*3034T>G (n.*3034T>G)
n.3180T>G
c.*3112T>G (n.*3112T>G)
n.271T>G
c.3419T>G (p.Phe1140Cys)
c.3377T>G (p.Phe1126Cys)
c.3641T>G (p.Phe1214Cys)
c.3563T>G (p.Phe1188Cys)
c.3530T>G (p.Phe1177Cys)
c.3539T>G (p.Phe1180Cys)
c.2549T>G (p.Phe850Cys)
1g.154584975A>GCA342634795ADARc.3406T>C (n.3406T>C)
c.3542T>C (p.Phe1181Ser)
c.3395T>C (p.Phe1132Ser)
c.3164T>C (p.Phe1055Ser)
c.2627T>C (p.Phe876Ser)
c.3512T>C (p.Phe1171Ser)
n.2305T>C
c.3434T>C (p.Phe1145Ser)
n.3497T>C
c.*987T>C (n.*987T>C)
n.4248T>C
c.*678T>C (n.*678T>C)
c.*1744T>C (n.*1744T>C)
n.4373T>C
c.2570T>C (p.Phe857Ser)
c.3329T>C (p.Phe1110Ser)
c.*3034T>C (n.*3034T>C)
n.3180T>C
c.*3112T>C (n.*3112T>C)
n.271T>C
c.3419T>C (p.Phe1140Ser)
c.3377T>C (p.Phe1126Ser)
c.3641T>C (p.Phe1214Ser)
c.3563T>C (p.Phe1188Ser)
c.3530T>C (p.Phe1177Ser)
c.3539T>C (p.Phe1180Ser)
c.2549T>C (p.Phe850Ser)
1g.154584975A>TCA342634794ADARc.3406T>A (n.3406T>A)
c.3542T>A (p.Phe1181Tyr)
c.3395T>A (p.Phe1132Tyr)
c.3164T>A (p.Phe1055Tyr)
c.2627T>A (p.Phe876Tyr)
c.3512T>A (p.Phe1171Tyr)
n.2305T>A
c.3434T>A (p.Phe1145Tyr)
n.3497T>A
c.*987T>A (n.*987T>A)
n.4248T>A
c.*678T>A (n.*678T>A)
c.*1744T>A (n.*1744T>A)
n.4373T>A
c.2570T>A (p.Phe857Tyr)
c.3329T>A (p.Phe1110Tyr)
c.*3034T>A (n.*3034T>A)
n.3180T>A
c.*3112T>A (n.*3112T>A)
n.271T>A
c.3419T>A (p.Phe1140Tyr)
c.3377T>A (p.Phe1126Tyr)
c.3641T>A (p.Phe1214Tyr)
c.3563T>A (p.Phe1188Tyr)
c.3530T>A (p.Phe1177Tyr)
c.3539T>A (p.Phe1180Tyr)
c.2549T>A (p.Phe850Tyr)
1g.154584976A=CA2480931220ADARc.3405T= (n.3405T=)
c.3541T= (p.Phe1181=)
c.3394T= (p.Phe1132=)
c.3163T= (p.Phe1055=)
c.2626T= (p.Phe876=)
c.3511T= (p.Phe1171=)
n.2304T=
c.3433T= (p.Phe1145=)
n.3496T=
c.*986T= (n.*986T=)
n.4247T=
c.*677T= (n.*677T=)
c.*1743T= (n.*1743T=)
n.4372T=
c.2569T= (p.Phe857=)
c.3328T= (p.Phe1110=)
c.*3033T= (n.*3033T=)
n.3179T=
c.*3111T= (n.*3111T=)
n.270T=
c.3418T= (p.Phe1140=)
c.3376T= (p.Phe1126=)
c.3640T= (p.Phe1214=)
c.3562T= (p.Phe1188=)
c.3529T= (p.Phe1177=)
c.3538T= (p.Phe1180=)
c.2548T= (p.Phe850=)
1g.154584976A>CCA342634796ADARc.3405T>G (n.3405T>G)
c.3541T>G (p.Phe1181Val)
c.3394T>G (p.Phe1132Val)
c.3163T>G (p.Phe1055Val)
c.2626T>G (p.Phe876Val)
c.3511T>G (p.Phe1171Val)
n.2304T>G
c.3433T>G (p.Phe1145Val)
n.3496T>G
c.*986T>G (n.*986T>G)
n.4247T>G
c.*677T>G (n.*677T>G)
c.*1743T>G (n.*1743T>G)
n.4372T>G
c.2569T>G (p.Phe857Val)
c.3328T>G (p.Phe1110Val)
c.*3033T>G (n.*3033T>G)
n.3179T>G
c.*3111T>G (n.*3111T>G)
n.270T>G
c.3418T>G (p.Phe1140Val)
c.3376T>G (p.Phe1126Val)
c.3640T>G (p.Phe1214Val)
c.3562T>G (p.Phe1188Val)
c.3529T>G (p.Phe1177Val)
c.3538T>G (p.Phe1180Val)
c.2548T>G (p.Phe850Val)
 dbSNP gnomAD v2 gnomAD v4
1g.154584976A>GCA342634797ADARc.3405T>C (n.3405T>C)
c.3541T>C (p.Phe1181Leu)
c.3394T>C (p.Phe1132Leu)
c.3163T>C (p.Phe1055Leu)
c.2626T>C (p.Phe876Leu)
c.3511T>C (p.Phe1171Leu)
n.2304T>C
c.3433T>C (p.Phe1145Leu)
n.3496T>C
c.*986T>C (n.*986T>C)
n.4247T>C
c.*677T>C (n.*677T>C)
c.*1743T>C (n.*1743T>C)
n.4372T>C
c.2569T>C (p.Phe857Leu)
c.3328T>C (p.Phe1110Leu)
c.*3033T>C (n.*3033T>C)
n.3179T>C
c.*3111T>C (n.*3111T>C)
n.270T>C
c.3418T>C (p.Phe1140Leu)
c.3376T>C (p.Phe1126Leu)
c.3640T>C (p.Phe1214Leu)
c.3562T>C (p.Phe1188Leu)
c.3529T>C (p.Phe1177Leu)
c.3538T>C (p.Phe1180Leu)
c.2548T>C (p.Phe850Leu)
1g.154584976A>TCA342634798ADARc.3405T>A (n.3405T>A)
c.3541T>A (p.Phe1181Ile)
c.3394T>A (p.Phe1132Ile)
c.3163T>A (p.Phe1055Ile)
c.2626T>A (p.Phe876Ile)
c.3511T>A (p.Phe1171Ile)
n.2304T>A
c.3433T>A (p.Phe1145Ile)
n.3496T>A
c.*986T>A (n.*986T>A)
n.4247T>A
c.*677T>A (n.*677T>A)
c.*1743T>A (n.*1743T>A)
n.4372T>A
c.2569T>A (p.Phe857Ile)
c.3328T>A (p.Phe1110Ile)
c.*3033T>A (n.*3033T>A)
n.3179T>A
c.*3111T>A (n.*3111T>A)
n.270T>A
c.3418T>A (p.Phe1140Ile)
c.3376T>A (p.Phe1126Ile)
c.3640T>A (p.Phe1214Ile)
c.3562T>A (p.Phe1188Ile)
c.3529T>A (p.Phe1177Ile)
c.3538T>A (p.Phe1180Ile)
c.2548T>A (p.Phe850Ile)
1g.154584977G>ACA421231521ADARc.3404C>T (n.3404C>T)
c.3540C>T (p.Ser1180=)
c.3393C>T (p.Ser1131=)
c.3162C>T (p.Ser1054=)
c.2625C>T (p.Ser875=)
c.3510C>T (p.Ser1170=)
n.2303C>T
c.3432C>T (p.Ser1144=)
n.3495C>T
c.*985C>T (n.*985C>T)
n.4246C>T
c.*676C>T (n.*676C>T)
c.*1742C>T (n.*1742C>T)
n.4371C>T
c.2568C>T (p.Ser856=)
c.3327C>T (p.Ser1109=)
c.*3032C>T (n.*3032C>T)
n.3178C>T
c.*3110C>T (n.*3110C>T)
n.269C>T
c.3417C>T (p.Ser1139=)
c.3375C>T (p.Ser1125=)
c.3639C>T (p.Ser1213=)
c.3561C>T (p.Ser1187=)
c.3528C>T (p.Ser1176=)
c.3537C>T (p.Ser1179=)
c.2547C>T (p.Ser849=)
 gnomAD v4 COSMIC COSMIC
1g.154584977G>CCA421231523ADARc.3404C>G (n.3404C>G)
c.3540C>G (p.Ser1180=)
c.3393C>G (p.Ser1131=)
c.3162C>G (p.Ser1054=)
c.2625C>G (p.Ser875=)
c.3510C>G (p.Ser1170=)
n.2303C>G
c.3432C>G (p.Ser1144=)
n.3495C>G
c.*985C>G (n.*985C>G)
n.4246C>G
c.*676C>G (n.*676C>G)
c.*1742C>G (n.*1742C>G)
n.4371C>G
c.2568C>G (p.Ser856=)
c.3327C>G (p.Ser1109=)
c.*3032C>G (n.*3032C>G)
n.3178C>G
c.*3110C>G (n.*3110C>G)
n.269C>G
c.3417C>G (p.Ser1139=)
c.3375C>G (p.Ser1125=)
c.3639C>G (p.Ser1213=)
c.3561C>G (p.Ser1187=)
c.3528C>G (p.Ser1176=)
c.3537C>G (p.Ser1179=)
c.2547C>G (p.Ser849=)
1g.154584977G=CA2480931221ADARc.3404C= (n.3404C=)
c.3540C= (p.Ser1180=)
c.3393C= (p.Ser1131=)
c.3162C= (p.Ser1054=)
c.2625C= (p.Ser875=)
c.3510C= (p.Ser1170=)
n.2303C=
c.3432C= (p.Ser1144=)
n.3495C=
c.*985C= (n.*985C=)
n.4246C=
c.*676C= (n.*676C=)
c.*1742C= (n.*1742C=)
n.4371C=
c.2568C= (p.Ser856=)
c.3327C= (p.Ser1109=)
c.*3032C= (n.*3032C=)
n.3178C=
c.*3110C= (n.*3110C=)
n.269C=
c.3417C= (p.Ser1139=)
c.3375C= (p.Ser1125=)
c.3639C= (p.Ser1213=)
c.3561C= (p.Ser1187=)
c.3528C= (p.Ser1176=)
c.3537C= (p.Ser1179=)
c.2547C= (p.Ser849=)
1g.154584977G>TCA421231522ADARc.3404C>A (n.3404C>A)
c.3540C>A (p.Ser1180=)
c.3393C>A (p.Ser1131=)
c.3162C>A (p.Ser1054=)
c.2625C>A (p.Ser875=)
c.3510C>A (p.Ser1170=)
n.2303C>A
c.3432C>A (p.Ser1144=)
n.3495C>A
c.*985C>A (n.*985C>A)
n.4246C>A
c.*676C>A (n.*676C>A)
c.*1742C>A (n.*1742C>A)
n.4371C>A
c.2568C>A (p.Ser856=)
c.3327C>A (p.Ser1109=)
c.*3032C>A (n.*3032C>A)
n.3178C>A
c.*3110C>A (n.*3110C>A)
n.269C>A
c.3417C>A (p.Ser1139=)
c.3375C>A (p.Ser1125=)
c.3639C>A (p.Ser1213=)
c.3561C>A (p.Ser1187=)
c.3528C>A (p.Ser1176=)
c.3537C>A (p.Ser1179=)
c.2547C>A (p.Ser849=)
1g.154584977_154584978insCCCA2480931222ADARc.3403_3404insGG (n.3403_3404insGG)
c.3539_3540insGG (p.Phe1181AlafsTer9)
c.3392_3393insGG (p.Phe1132AlafsTer9)
c.3161_3162insGG (p.Phe1055AlafsTer9)
c.2624_2625insGG (p.Phe876AlafsTer9)
c.3509_3510insGG (p.Phe1171AlafsTer9)
n.2302_2303insGG
c.3431_3432insGG (p.Phe1145AlafsTer9)
n.3494_3495insGG
c.*984_*985insGG (n.*984_*985insGG)
n.4245_4246insGG
c.*675_*676insGG (n.*675_*676insGG)
c.*1741_*1742insGG (n.*1741_*1742insGG)
n.4370_4371insGG
c.2567_2568insGG (p.Phe857AlafsTer9)
c.3326_3327insGG (p.Phe1110AlafsTer9)
c.*3031_*3032insGG (n.*3031_*3032insGG)
n.3177_3178insGG
c.*3109_*3110insGG (n.*3109_*3110insGG)
n.268_269insGG
c.3416_3417insGG (p.Phe1140AlafsTer9)
c.3374_3375insGG (p.Phe1126AlafsTer9)
c.3638_3639insGG (p.Phe1214AlafsTer9)
c.3560_3561insGG (p.Phe1188AlafsTer9)
c.3527_3528insGG (p.Phe1177AlafsTer9)
c.3536_3537insGG (p.Phe1180AlafsTer9)
c.2546_2547insGG (p.Phe850AlafsTer9)
 dbSNP
1g.154584978G>ACA342634799ADARc.3403C>T (n.3403C>T)
c.3539C>T (p.Ser1180Phe)
c.3392C>T (p.Ser1131Phe)
c.3161C>T (p.Ser1054Phe)
c.2624C>T (p.Ser875Phe)
c.3509C>T (p.Ser1170Phe)
n.2302C>T
c.3431C>T (p.Ser1144Phe)
n.3494C>T
c.*984C>T (n.*984C>T)
n.4245C>T
c.*675C>T (n.*675C>T)
c.*1741C>T (n.*1741C>T)
n.4370C>T
c.2567C>T (p.Ser856Phe)
c.3326C>T (p.Ser1109Phe)
c.*3031C>T (n.*3031C>T)
n.3177C>T
c.*3109C>T (n.*3109C>T)
n.268C>T
c.3416C>T (p.Ser1139Phe)
c.3374C>T (p.Ser1125Phe)
c.3638C>T (p.Ser1213Phe)
c.3560C>T (p.Ser1187Phe)
c.3527C>T (p.Ser1176Phe)
c.3536C>T (p.Ser1179Phe)
c.2546C>T (p.Ser849Phe)
 ClinVar dbSNP gnomAD v4
1g.154584978G>CCA342634800ADARc.3403C>G (n.3403C>G)
c.3539C>G (p.Ser1180Cys)
c.3392C>G (p.Ser1131Cys)
c.3161C>G (p.Ser1054Cys)
c.2624C>G (p.Ser875Cys)
c.3509C>G (p.Ser1170Cys)
n.2302C>G
c.3431C>G (p.Ser1144Cys)
n.3494C>G
c.*984C>G (n.*984C>G)
n.4245C>G
c.*675C>G (n.*675C>G)
c.*1741C>G (n.*1741C>G)
n.4370C>G
c.2567C>G (p.Ser856Cys)
c.3326C>G (p.Ser1109Cys)
c.*3031C>G (n.*3031C>G)
n.3177C>G
c.*3109C>G (n.*3109C>G)
n.268C>G
c.3416C>G (p.Ser1139Cys)
c.3374C>G (p.Ser1125Cys)
c.3638C>G (p.Ser1213Cys)
c.3560C>G (p.Ser1187Cys)
c.3527C>G (p.Ser1176Cys)
c.3536C>G (p.Ser1179Cys)
c.2546C>G (p.Ser849Cys)
1g.154584978G=CA2480931223ADARc.3403C= (n.3403C=)
c.3539C= (p.Ser1180=)
c.3392C= (p.Ser1131=)
c.3161C= (p.Ser1054=)
c.2624C= (p.Ser875=)
c.3509C= (p.Ser1170=)
n.2302C=
c.3431C= (p.Ser1144=)
n.3494C=
c.*984C= (n.*984C=)
n.4245C=
c.*675C= (n.*675C=)
c.*1741C= (n.*1741C=)
n.4370C=
c.2567C= (p.Ser856=)
c.3326C= (p.Ser1109=)
c.*3031C= (n.*3031C=)
n.3177C=
c.*3109C= (n.*3109C=)
n.268C=
c.3416C= (p.Ser1139=)
c.3374C= (p.Ser1125=)
c.3638C= (p.Ser1213=)
c.3560C= (p.Ser1187=)
c.3527C= (p.Ser1176=)
c.3536C= (p.Ser1179=)
c.2546C= (p.Ser849=)
1g.154584978G>TCA342634801ADARc.3403C>A (n.3403C>A)
c.3539C>A (p.Ser1180Tyr)
c.3392C>A (p.Ser1131Tyr)
c.3161C>A (p.Ser1054Tyr)
c.2624C>A (p.Ser875Tyr)
c.3509C>A (p.Ser1170Tyr)
n.2302C>A
c.3431C>A (p.Ser1144Tyr)
n.3494C>A
c.*984C>A (n.*984C>A)
n.4245C>A
c.*675C>A (n.*675C>A)
c.*1741C>A (n.*1741C>A)
n.4370C>A
c.2567C>A (p.Ser856Tyr)
c.3326C>A (p.Ser1109Tyr)
c.*3031C>A (n.*3031C>A)
n.3177C>A
c.*3109C>A (n.*3109C>A)
n.268C>A
c.3416C>A (p.Ser1139Tyr)
c.3374C>A (p.Ser1125Tyr)
c.3638C>A (p.Ser1213Tyr)
c.3560C>A (p.Ser1187Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3536C>A (p.Ser1179Tyr)
c.2546C>A (p.Ser849Tyr)
1g.154584979A=CA2480931224ADARc.3402T= (n.3402T=)
c.3538T= (p.Ser1180=)
c.3391T= (p.Ser1131=)
c.3160T= (p.Ser1054=)
c.2623T= (p.Ser875=)
c.3508T= (p.Ser1170=)
n.2301T=
c.3430T= (p.Ser1144=)
n.3493T=
c.*983T= (n.*983T=)
n.4244T=
c.*674T= (n.*674T=)
c.*1740T= (n.*1740T=)
n.4369T=
c.2566T= (p.Ser856=)
c.3325T= (p.Ser1109=)
c.*3030T= (n.*3030T=)
n.3176T=
c.*3108T= (n.*3108T=)
n.267T=
c.3415T= (p.Ser1139=)
c.3373T= (p.Ser1125=)
c.3637T= (p.Ser1213=)
c.3559T= (p.Ser1187=)
c.3526T= (p.Ser1176=)
c.3535T= (p.Ser1179=)
c.2545T= (p.Ser849=)
1g.154584979A>CCA342634802ADARc.3402T>G (n.3402T>G)
c.3538T>G (p.Ser1180Ala)
c.3391T>G (p.Ser1131Ala)
c.3160T>G (p.Ser1054Ala)
c.2623T>G (p.Ser875Ala)
c.3508T>G (p.Ser1170Ala)
n.2301T>G
c.3430T>G (p.Ser1144Ala)
n.3493T>G
c.*983T>G (n.*983T>G)
n.4244T>G
c.*674T>G (n.*674T>G)
c.*1740T>G (n.*1740T>G)
n.4369T>G
c.2566T>G (p.Ser856Ala)
c.3325T>G (p.Ser1109Ala)
c.*3030T>G (n.*3030T>G)
n.3176T>G
c.*3108T>G (n.*3108T>G)
n.267T>G
c.3415T>G (p.Ser1139Ala)
c.3373T>G (p.Ser1125Ala)
c.3637T>G (p.Ser1213Ala)
c.3559T>G (p.Ser1187Ala)
c.3526T>G (p.Ser1176Ala)
c.3535T>G (p.Ser1179Ala)
c.2545T>G (p.Ser849Ala)
1g.154584979A>GCA342634803ADARc.3402T>C (n.3402T>C)
c.3538T>C (p.Ser1180Pro)
c.3391T>C (p.Ser1131Pro)
c.3160T>C (p.Ser1054Pro)
c.2623T>C (p.Ser875Pro)
c.3508T>C (p.Ser1170Pro)
n.2301T>C
c.3430T>C (p.Ser1144Pro)
n.3493T>C
c.*983T>C (n.*983T>C)
n.4244T>C
c.*674T>C (n.*674T>C)
c.*1740T>C (n.*1740T>C)
n.4369T>C
c.2566T>C (p.Ser856Pro)
c.3325T>C (p.Ser1109Pro)
c.*3030T>C (n.*3030T>C)
n.3176T>C
c.*3108T>C (n.*3108T>C)
n.267T>C
c.3415T>C (p.Ser1139Pro)
c.3373T>C (p.Ser1125Pro)
c.3637T>C (p.Ser1213Pro)
c.3559T>C (p.Ser1187Pro)
c.3526T>C (p.Ser1176Pro)
c.3535T>C (p.Ser1179Pro)
c.2545T>C (p.Ser849Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.154584979A>TCA342634804ADARc.3402T>A (n.3402T>A)
c.3538T>A (p.Ser1180Thr)
c.3391T>A (p.Ser1131Thr)
c.3160T>A (p.Ser1054Thr)
c.2623T>A (p.Ser875Thr)
c.3508T>A (p.Ser1170Thr)
n.2301T>A
c.3430T>A (p.Ser1144Thr)
n.3493T>A
c.*983T>A (n.*983T>A)
n.4244T>A
c.*674T>A (n.*674T>A)
c.*1740T>A (n.*1740T>A)
n.4369T>A
c.2566T>A (p.Ser856Thr)
c.3325T>A (p.Ser1109Thr)
c.*3030T>A (n.*3030T>A)
n.3176T>A
c.*3108T>A (n.*3108T>A)
n.267T>A
c.3415T>A (p.Ser1139Thr)
c.3373T>A (p.Ser1125Thr)
c.3637T>A (p.Ser1213Thr)
c.3559T>A (p.Ser1187Thr)
c.3526T>A (p.Ser1176Thr)
c.3535T>A (p.Ser1179Thr)
c.2545T>A (p.Ser849Thr)
1g.154584980G>ACA421231524ADARc.3401C>T (n.3401C>T)
c.3537C>T (p.Cys1179=)
c.3390C>T (p.Cys1130=)
c.3159C>T (p.Cys1053=)
c.2622C>T (p.Cys874=)
c.3507C>T (p.Cys1169=)
n.2300C>T
c.3429C>T (p.Cys1143=)
n.3492C>T
c.*982C>T (n.*982C>T)
n.4243C>T
c.*673C>T (n.*673C>T)
c.*1739C>T (n.*1739C>T)
n.4368C>T
c.2565C>T (p.Cys855=)
c.3324C>T (p.Cys1108=)
c.*3029C>T (n.*3029C>T)
n.3175C>T
c.*3107C>T (n.*3107C>T)
n.266C>T
c.3414C>T (p.Cys1138=)
c.3372C>T (p.Cys1124=)
c.3636C>T (p.Cys1212=)
c.3558C>T (p.Cys1186=)
c.3525C>T (p.Cys1175=)
c.3534C>T (p.Cys1178=)
c.2544C>T (p.Cys848=)
 ClinVar dbSNP gnomAD v4
1g.154584980G>CCA342634805ADARc.3401C>G (n.3401C>G)
c.3537C>G (p.Cys1179Trp)
c.3390C>G (p.Cys1130Trp)
c.3159C>G (p.Cys1053Trp)
c.2622C>G (p.Cys874Trp)
c.3507C>G (p.Cys1169Trp)
n.2300C>G
c.3429C>G (p.Cys1143Trp)
n.3492C>G
c.*982C>G (n.*982C>G)
n.4243C>G
c.*673C>G (n.*673C>G)
c.*1739C>G (n.*1739C>G)
n.4368C>G
c.2565C>G (p.Cys855Trp)
c.3324C>G (p.Cys1108Trp)
c.*3029C>G (n.*3029C>G)
n.3175C>G
c.*3107C>G (n.*3107C>G)
n.266C>G
c.3414C>G (p.Cys1138Trp)
c.3372C>G (p.Cys1124Trp)
c.3636C>G (p.Cys1212Trp)
c.3558C>G (p.Cys1186Trp)
c.3525C>G (p.Cys1175Trp)
c.3534C>G (p.Cys1178Trp)
c.2544C>G (p.Cys848Trp)
1g.154584980G=CA2480931225ADARc.3401C= (n.3401C=)
c.3537C= (p.Cys1179=)
c.3390C= (p.Cys1130=)
c.3159C= (p.Cys1053=)
c.2622C= (p.Cys874=)
c.3507C= (p.Cys1169=)
n.2300C=
c.3429C= (p.Cys1143=)
n.3492C=
c.*982C= (n.*982C=)
n.4243C=
c.*673C= (n.*673C=)
c.*1739C= (n.*1739C=)
n.4368C=
c.2565C= (p.Cys855=)
c.3324C= (p.Cys1108=)
c.*3029C= (n.*3029C=)
n.3175C=
c.*3107C= (n.*3107C=)
n.266C=
c.3414C= (p.Cys1138=)
c.3372C= (p.Cys1124=)
c.3636C= (p.Cys1212=)
c.3558C= (p.Cys1186=)
c.3525C= (p.Cys1175=)
c.3534C= (p.Cys1178=)
c.2544C= (p.Cys848=)
1g.154584980G>TCA342634806ADARc.3401C>A (n.3401C>A)
c.3537C>A (p.Cys1179Ter)
c.3390C>A (p.Cys1130Ter)
c.3159C>A (p.Cys1053Ter)
c.2622C>A (p.Cys874Ter)
c.3507C>A (p.Cys1169Ter)
n.2300C>A
c.3429C>A (p.Cys1143Ter)
n.3492C>A
c.*982C>A (n.*982C>A)
n.4243C>A
c.*673C>A (n.*673C>A)
c.*1739C>A (n.*1739C>A)
n.4368C>A
c.2565C>A (p.Cys855Ter)
c.3324C>A (p.Cys1108Ter)
c.*3029C>A (n.*3029C>A)
n.3175C>A
c.*3107C>A (n.*3107C>A)
n.266C>A
c.3414C>A (p.Cys1138Ter)
c.3372C>A (p.Cys1124Ter)
c.3636C>A (p.Cys1212Ter)
c.3558C>A (p.Cys1186Ter)
c.3525C>A (p.Cys1175Ter)
c.3534C>A (p.Cys1178Ter)
c.2544C>A (p.Cys848Ter)
 dbSNP gnomAD v2
1g.154584981C>ACA342634809ADARc.3400G>T (n.3400G>T)
c.3536G>T (p.Cys1179Phe)
c.3389G>T (p.Cys1130Phe)
c.3158G>T (p.Cys1053Phe)
c.2621G>T (p.Cys874Phe)
c.3506G>T (p.Cys1169Phe)
n.2299G>T
c.3428G>T (p.Cys1143Phe)
n.3491G>T
c.*981G>T (n.*981G>T)
n.4242G>T
c.*672G>T (n.*672G>T)
c.*1738G>T (n.*1738G>T)
n.4367G>T
c.2564G>T (p.Cys855Phe)
c.3323G>T (p.Cys1108Phe)
c.*3028G>T (n.*3028G>T)
n.3174G>T
c.*3106G>T (n.*3106G>T)
n.265G>T
c.3413G>T (p.Cys1138Phe)
c.3371G>T (p.Cys1124Phe)
c.3635G>T (p.Cys1212Phe)
c.3557G>T (p.Cys1186Phe)
c.3524G>T (p.Cys1175Phe)
c.3533G>T (p.Cys1178Phe)
c.2543G>T (p.Cys848Phe)
1g.154584981C>GCA342634808ADARc.3400G>C (n.3400G>C)
c.3536G>C (p.Cys1179Ser)
c.3389G>C (p.Cys1130Ser)
c.3158G>C (p.Cys1053Ser)
c.2621G>C (p.Cys874Ser)
c.3506G>C (p.Cys1169Ser)
n.2299G>C
c.3428G>C (p.Cys1143Ser)
n.3491G>C
c.*981G>C (n.*981G>C)
n.4242G>C
c.*672G>C (n.*672G>C)
c.*1738G>C (n.*1738G>C)
n.4367G>C
c.2564G>C (p.Cys855Ser)
c.3323G>C (p.Cys1108Ser)
c.*3028G>C (n.*3028G>C)
n.3174G>C
c.*3106G>C (n.*3106G>C)
n.265G>C
c.3413G>C (p.Cys1138Ser)
c.3371G>C (p.Cys1124Ser)
c.3635G>C (p.Cys1212Ser)
c.3557G>C (p.Cys1186Ser)
c.3524G>C (p.Cys1175Ser)
c.3533G>C (p.Cys1178Ser)
c.2543G>C (p.Cys848Ser)
1g.154584981C>TCA342634807ADARc.3400G>A (n.3400G>A)
c.3536G>A (p.Cys1179Tyr)
c.3389G>A (p.Cys1130Tyr)
c.3158G>A (p.Cys1053Tyr)
c.2621G>A (p.Cys874Tyr)
c.3506G>A (p.Cys1169Tyr)
n.2299G>A
c.3428G>A (p.Cys1143Tyr)
n.3491G>A
c.*981G>A (n.*981G>A)
n.4242G>A
c.*672G>A (n.*672G>A)
c.*1738G>A (n.*1738G>A)
n.4367G>A
c.2564G>A (p.Cys855Tyr)
c.3323G>A (p.Cys1108Tyr)
c.*3028G>A (n.*3028G>A)
n.3174G>A
c.*3106G>A (n.*3106G>A)
n.265G>A
c.3413G>A (p.Cys1138Tyr)
c.3371G>A (p.Cys1124Tyr)
c.3635G>A (p.Cys1212Tyr)
c.3557G>A (p.Cys1186Tyr)
c.3524G>A (p.Cys1175Tyr)
c.3533G>A (p.Cys1178Tyr)
c.2543G>A (p.Cys848Tyr)
1g.154584981dupCA2648175743ADARc.3400dup (n.3400dup)
c.3536dup (p.Cys1179TrpfsTer16)
c.3389dup (p.Cys1130TrpfsTer16)
c.3158dup (p.Cys1053TrpfsTer16)
c.2621dup (p.Cys874TrpfsTer16)
c.3506dup (p.Cys1169TrpfsTer16)
n.2299dup
c.3428dup (p.Cys1143TrpfsTer16)
n.3491dup
c.*981dup (n.*981dup)
n.4242dup
c.*672dup (n.*672dup)
c.*1738dup (n.*1738dup)
n.4367dup
c.2564dup (p.Cys855TrpfsTer16)
c.3323dup (p.Cys1108TrpfsTer16)
c.*3028dup (n.*3028dup)
n.3174dup
c.*3106dup (n.*3106dup)
n.265dup
c.3413dup (p.Cys1138TrpfsTer16)
c.3371dup (p.Cys1124TrpfsTer16)
c.3635dup (p.Cys1212TrpfsTer16)
c.3557dup (p.Cys1186TrpfsTer16)
c.3524dup (p.Cys1175TrpfsTer16)
c.3533dup (p.Cys1178TrpfsTer16)
c.2543dup (p.Cys848TrpfsTer16)
 gnomAD v4
1g.154584982A=CA2480931226ADARc.3399T= (n.3399T=)
c.3535T= (p.Cys1179=)
c.3388T= (p.Cys1130=)
c.3157T= (p.Cys1053=)
c.2620T= (p.Cys874=)
c.3505T= (p.Cys1169=)
n.2298T=
c.3427T= (p.Cys1143=)
n.3490T=
c.*980T= (n.*980T=)
n.4241T=
c.*671T= (n.*671T=)
c.*1737T= (n.*1737T=)
n.4366T=
c.2563T= (p.Cys855=)
c.3322T= (p.Cys1108=)
c.*3027T= (n.*3027T=)
n.3173T=
c.*3105T= (n.*3105T=)
n.264T=
c.3412T= (p.Cys1138=)
c.3370T= (p.Cys1124=)
c.3634T= (p.Cys1212=)
c.3556T= (p.Cys1186=)
c.3523T= (p.Cys1175=)
c.3532T= (p.Cys1178=)
c.2542T= (p.Cys848=)
1g.154584982A>CCA342634810ADARc.3399T>G (n.3399T>G)
c.3535T>G (p.Cys1179Gly)
c.3388T>G (p.Cys1130Gly)
c.3157T>G (p.Cys1053Gly)
c.2620T>G (p.Cys874Gly)
c.3505T>G (p.Cys1169Gly)
n.2298T>G
c.3427T>G (p.Cys1143Gly)
n.3490T>G
c.*980T>G (n.*980T>G)
n.4241T>G
c.*671T>G (n.*671T>G)
c.*1737T>G (n.*1737T>G)
n.4366T>G
c.2563T>G (p.Cys855Gly)
c.3322T>G (p.Cys1108Gly)
c.*3027T>G (n.*3027T>G)
n.3173T>G
c.*3105T>G (n.*3105T>G)
n.264T>G
c.3412T>G (p.Cys1138Gly)
c.3370T>G (p.Cys1124Gly)
c.3634T>G (p.Cys1212Gly)
c.3556T>G (p.Cys1186Gly)
c.3523T>G (p.Cys1175Gly)
c.3532T>G (p.Cys1178Gly)
c.2542T>G (p.Cys848Gly)
1g.154584982A>GCA342634812ADARc.3399T>C (n.3399T>C)
c.3535T>C (p.Cys1179Arg)
c.3388T>C (p.Cys1130Arg)
c.3157T>C (p.Cys1053Arg)
c.2620T>C (p.Cys874Arg)
c.3505T>C (p.Cys1169Arg)
n.2298T>C
c.3427T>C (p.Cys1143Arg)
n.3490T>C
c.*980T>C (n.*980T>C)
n.4241T>C
c.*671T>C (n.*671T>C)
c.*1737T>C (n.*1737T>C)
n.4366T>C
c.2563T>C (p.Cys855Arg)
c.3322T>C (p.Cys1108Arg)
c.*3027T>C (n.*3027T>C)
n.3173T>C
c.*3105T>C (n.*3105T>C)
n.264T>C
c.3412T>C (p.Cys1138Arg)
c.3370T>C (p.Cys1124Arg)
c.3634T>C (p.Cys1212Arg)
c.3556T>C (p.Cys1186Arg)
c.3523T>C (p.Cys1175Arg)
c.3532T>C (p.Cys1178Arg)
c.2542T>C (p.Cys848Arg)
 dbSNP gnomAD v2
1g.154584982A>TCA342634811ADARc.3399T>A (n.3399T>A)
c.3535T>A (p.Cys1179Ser)
c.3388T>A (p.Cys1130Ser)
c.3157T>A (p.Cys1053Ser)
c.2620T>A (p.Cys874Ser)
c.3505T>A (p.Cys1169Ser)
n.2298T>A
c.3427T>A (p.Cys1143Ser)
n.3490T>A
c.*980T>A (n.*980T>A)
n.4241T>A
c.*671T>A (n.*671T>A)
c.*1737T>A (n.*1737T>A)
n.4366T>A
c.2563T>A (p.Cys855Ser)
c.3322T>A (p.Cys1108Ser)
c.*3027T>A (n.*3027T>A)
n.3173T>A
c.*3105T>A (n.*3105T>A)
n.264T>A
c.3412T>A (p.Cys1138Ser)
c.3370T>A (p.Cys1124Ser)
c.3634T>A (p.Cys1212Ser)
c.3556T>A (p.Cys1186Ser)
c.3523T>A (p.Cys1175Ser)
c.3532T>A (p.Cys1178Ser)
c.2542T>A (p.Cys848Ser)
1g.154584983G>ACA421231528ADARc.3398C>T (n.3398C>T)
c.3534C>T (p.Leu1178=)
c.3387C>T (p.Leu1129=)
c.3156C>T (p.Leu1052=)
c.2619C>T (p.Leu873=)
c.3504C>T (p.Leu1168=)
n.2297C>T
c.3426C>T (p.Leu1142=)
n.3489C>T
c.*979C>T (n.*979C>T)
n.4240C>T
c.*670C>T (n.*670C>T)
c.*1736C>T (n.*1736C>T)
n.4365C>T
c.2562C>T (p.Leu854=)
c.3321C>T (p.Leu1107=)
c.*3026C>T (n.*3026C>T)
n.3172C>T
c.*3104C>T (n.*3104C>T)
n.263C>T
c.3411C>T (p.Leu1137=)
c.3369C>T (p.Leu1123=)
c.3633C>T (p.Leu1211=)
c.3555C>T (p.Leu1185=)
c.3522C>T (p.Leu1174=)
c.3531C>T (p.Leu1177=)
c.2541C>T (p.Leu847=)
 ClinVar dbSNP
1g.154584983G>CCA1130930ADARc.3398C>G (n.3398C>G)
c.3534C>G (p.Leu1178=)
c.3387C>G (p.Leu1129=)
c.3156C>G (p.Leu1052=)
c.2619C>G (p.Leu873=)
c.3504C>G (p.Leu1168=)
n.2297C>G
c.3426C>G (p.Leu1142=)
n.3489C>G
c.*979C>G (n.*979C>G)
n.4240C>G
c.*670C>G (n.*670C>G)
c.*1736C>G (n.*1736C>G)
n.4365C>G
c.2562C>G (p.Leu854=)
c.3321C>G (p.Leu1107=)
c.*3026C>G (n.*3026C>G)
n.3172C>G
c.*3104C>G (n.*3104C>G)
n.263C>G
c.3411C>G (p.Leu1137=)
c.3369C>G (p.Leu1123=)
c.3633C>G (p.Leu1211=)
c.3555C>G (p.Leu1185=)
c.3522C>G (p.Leu1174=)
c.3531C>G (p.Leu1177=)
c.2541C>G (p.Leu847=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584983G=CA1147217067ADARc.3398C= (n.3398C=)
c.3534C= (p.Leu1178=)
c.3387C= (p.Leu1129=)
c.3156C= (p.Leu1052=)
c.2619C= (p.Leu873=)
c.3504C= (p.Leu1168=)
n.2297C=
c.3426C= (p.Leu1142=)
n.3489C=
c.*979C= (n.*979C=)
n.4240C=
c.*670C= (n.*670C=)
c.*1736C= (n.*1736C=)
n.4365C=
c.2562C= (p.Leu854=)
c.3321C= (p.Leu1107=)
c.*3026C= (n.*3026C=)
n.3172C=
c.*3104C= (n.*3104C=)
n.263C=
c.3411C= (p.Leu1137=)
c.3369C= (p.Leu1123=)
c.3633C= (p.Leu1211=)
c.3555C= (p.Leu1185=)
c.3522C= (p.Leu1174=)
c.3531C= (p.Leu1177=)
c.2541C= (p.Leu847=)
1g.154584983G>TCA421231529ADARc.3398C>A (n.3398C>A)
c.3534C>A (p.Leu1178=)
c.3387C>A (p.Leu1129=)
c.3156C>A (p.Leu1052=)
c.2619C>A (p.Leu873=)
c.3504C>A (p.Leu1168=)
n.2297C>A
c.3426C>A (p.Leu1142=)
n.3489C>A
c.*979C>A (n.*979C>A)
n.4240C>A
c.*670C>A (n.*670C>A)
c.*1736C>A (n.*1736C>A)
n.4365C>A
c.2562C>A (p.Leu854=)
c.3321C>A (p.Leu1107=)
c.*3026C>A (n.*3026C>A)
n.3172C>A
c.*3104C>A (n.*3104C>A)
n.263C>A
c.3411C>A (p.Leu1137=)
c.3369C>A (p.Leu1123=)
c.3633C>A (p.Leu1211=)
c.3555C>A (p.Leu1185=)
c.3522C>A (p.Leu1174=)
c.3531C>A (p.Leu1177=)
c.2541C>A (p.Leu847=)
1g.154584984A>CCA342634813ADARc.3397T>G (n.3397T>G)
c.3533T>G (p.Leu1178Arg)
c.3386T>G (p.Leu1129Arg)
c.3155T>G (p.Leu1052Arg)
c.2618T>G (p.Leu873Arg)
c.3503T>G (p.Leu1168Arg)
n.2296T>G
c.3425T>G (p.Leu1142Arg)
n.3488T>G
c.*978T>G (n.*978T>G)
n.4239T>G
c.*669T>G (n.*669T>G)
c.*1735T>G (n.*1735T>G)
n.4364T>G
c.2561T>G (p.Leu854Arg)
c.3320T>G (p.Leu1107Arg)
c.*3025T>G (n.*3025T>G)
n.3171T>G
c.*3103T>G (n.*3103T>G)
n.262T>G
c.3410T>G (p.Leu1137Arg)
c.3368T>G (p.Leu1123Arg)
c.3632T>G (p.Leu1211Arg)
c.3554T>G (p.Leu1185Arg)
c.3521T>G (p.Leu1174Arg)
c.3530T>G (p.Leu1177Arg)
c.2540T>G (p.Leu847Arg)
1g.154584984A>GCA342634814ADARc.3397T>C (n.3397T>C)
c.3533T>C (p.Leu1178Pro)
c.3386T>C (p.Leu1129Pro)
c.3155T>C (p.Leu1052Pro)
c.2618T>C (p.Leu873Pro)
c.3503T>C (p.Leu1168Pro)
n.2296T>C
c.3425T>C (p.Leu1142Pro)
n.3488T>C
c.*978T>C (n.*978T>C)
n.4239T>C
c.*669T>C (n.*669T>C)
c.*1735T>C (n.*1735T>C)
n.4364T>C
c.2561T>C (p.Leu854Pro)
c.3320T>C (p.Leu1107Pro)
c.*3025T>C (n.*3025T>C)
n.3171T>C
c.*3103T>C (n.*3103T>C)
n.262T>C
c.3410T>C (p.Leu1137Pro)
c.3368T>C (p.Leu1123Pro)
c.3632T>C (p.Leu1211Pro)
c.3554T>C (p.Leu1185Pro)
c.3521T>C (p.Leu1174Pro)
c.3530T>C (p.Leu1177Pro)
c.2540T>C (p.Leu847Pro)
1g.154584984A>TCA342634815ADARc.3397T>A (n.3397T>A)
c.3533T>A (p.Leu1178His)
c.3386T>A (p.Leu1129His)
c.3155T>A (p.Leu1052His)
c.2618T>A (p.Leu873His)
c.3503T>A (p.Leu1168His)
n.2296T>A
c.3425T>A (p.Leu1142His)
n.3488T>A
c.*978T>A (n.*978T>A)
n.4239T>A
c.*669T>A (n.*669T>A)
c.*1735T>A (n.*1735T>A)
n.4364T>A
c.2561T>A (p.Leu854His)
c.3320T>A (p.Leu1107His)
c.*3025T>A (n.*3025T>A)
n.3171T>A
c.*3103T>A (n.*3103T>A)
n.262T>A
c.3410T>A (p.Leu1137His)
c.3368T>A (p.Leu1123His)
c.3632T>A (p.Leu1211His)
c.3554T>A (p.Leu1185His)
c.3521T>A (p.Leu1174His)
c.3530T>A (p.Leu1177His)
c.2540T>A (p.Leu847His)
1g.154584985G>ACA342634816ADARc.3396C>T (n.3396C>T)
c.3532C>T (p.Leu1178Phe)
c.3385C>T (p.Leu1129Phe)
c.3154C>T (p.Leu1052Phe)
c.2617C>T (p.Leu873Phe)
c.3502C>T (p.Leu1168Phe)
n.2295C>T
c.3424C>T (p.Leu1142Phe)
n.3487C>T
c.*977C>T (n.*977C>T)
n.4238C>T
c.*668C>T (n.*668C>T)
c.*1734C>T (n.*1734C>T)
n.4363C>T
c.2560C>T (p.Leu854Phe)
c.3319C>T (p.Leu1107Phe)
c.*3024C>T (n.*3024C>T)
n.3170C>T
c.*3102C>T (n.*3102C>T)
n.261C>T
c.3409C>T (p.Leu1137Phe)
c.3367C>T (p.Leu1123Phe)
c.3631C>T (p.Leu1211Phe)
c.3553C>T (p.Leu1185Phe)
c.3520C>T (p.Leu1174Phe)
c.3529C>T (p.Leu1177Phe)
c.2539C>T (p.Leu847Phe)
1g.154584985G>CCA342634817ADARc.3396C>G (n.3396C>G)
c.3532C>G (p.Leu1178Val)
c.3385C>G (p.Leu1129Val)
c.3154C>G (p.Leu1052Val)
c.2617C>G (p.Leu873Val)
c.3502C>G (p.Leu1168Val)
n.2295C>G
c.3424C>G (p.Leu1142Val)
n.3487C>G
c.*977C>G (n.*977C>G)
n.4238C>G
c.*668C>G (n.*668C>G)
c.*1734C>G (n.*1734C>G)
n.4363C>G
c.2560C>G (p.Leu854Val)
c.3319C>G (p.Leu1107Val)
c.*3024C>G (n.*3024C>G)
n.3170C>G
c.*3102C>G (n.*3102C>G)
n.261C>G
c.3409C>G (p.Leu1137Val)
c.3367C>G (p.Leu1123Val)
c.3631C>G (p.Leu1211Val)
c.3553C>G (p.Leu1185Val)
c.3520C>G (p.Leu1174Val)
c.3529C>G (p.Leu1177Val)
c.2539C>G (p.Leu847Val)
1g.154584985G>TCA342634818ADARc.3396C>A (n.3396C>A)
c.3532C>A (p.Leu1178Ile)
c.3385C>A (p.Leu1129Ile)
c.3154C>A (p.Leu1052Ile)
c.2617C>A (p.Leu873Ile)
c.3502C>A (p.Leu1168Ile)
n.2295C>A
c.3424C>A (p.Leu1142Ile)
n.3487C>A
c.*977C>A (n.*977C>A)
n.4238C>A
c.*668C>A (n.*668C>A)
c.*1734C>A (n.*1734C>A)
n.4363C>A
c.2560C>A (p.Leu854Ile)
c.3319C>A (p.Leu1107Ile)
c.*3024C>A (n.*3024C>A)
n.3170C>A
c.*3102C>A (n.*3102C>A)
n.261C>A
c.3409C>A (p.Leu1137Ile)
c.3367C>A (p.Leu1123Ile)
c.3631C>A (p.Leu1211Ile)
c.3553C>A (p.Leu1185Ile)
c.3520C>A (p.Leu1174Ile)
c.3529C>A (p.Leu1177Ile)
c.2539C>A (p.Leu847Ile)
1g.154584986C>ACA342634819ADARc.3395G>T (n.3395G>T)
c.3531G>T (p.Lys1177Asn)
c.3384G>T (p.Lys1128Asn)
c.3153G>T (p.Lys1051Asn)
c.2616G>T (p.Lys872Asn)
c.3501G>T (p.Lys1167Asn)
n.2294G>T
c.3423G>T (p.Lys1141Asn)
n.3486G>T
c.*976G>T (n.*976G>T)
n.4237G>T
c.*667G>T (n.*667G>T)
c.*1733G>T (n.*1733G>T)
n.4362G>T
c.2559G>T (p.Lys853Asn)
c.3318G>T (p.Lys1106Asn)
c.*3023G>T (n.*3023G>T)
n.3169G>T
c.*3101G>T (n.*3101G>T)
n.260G>T
c.3408G>T (p.Lys1136Asn)
c.3366G>T (p.Lys1122Asn)
c.3630G>T (p.Lys1210Asn)
c.3552G>T (p.Lys1184Asn)
c.3519G>T (p.Lys1173Asn)
c.3528G>T (p.Lys1176Asn)
c.2538G>T (p.Lys846Asn)
 dbSNP
1g.154584986C=CA2480931227ADARc.3395G= (n.3395G=)
c.3531G= (p.Lys1177=)
c.3384G= (p.Lys1128=)
c.3153G= (p.Lys1051=)
c.2616G= (p.Lys872=)
c.3501G= (p.Lys1167=)
n.2294G=
c.3423G= (p.Lys1141=)
n.3486G=
c.*976G= (n.*976G=)
n.4237G=
c.*667G= (n.*667G=)
c.*1733G= (n.*1733G=)
n.4362G=
c.2559G= (p.Lys853=)
c.3318G= (p.Lys1106=)
c.*3023G= (n.*3023G=)
n.3169G=
c.*3101G= (n.*3101G=)
n.260G=
c.3408G= (p.Lys1136=)
c.3366G= (p.Lys1122=)
c.3630G= (p.Lys1210=)
c.3552G= (p.Lys1184=)
c.3519G= (p.Lys1173=)
c.3528G= (p.Lys1176=)
c.2538G= (p.Lys846=)
1g.154584986C>GCA342634820ADARc.3395G>C (n.3395G>C)
c.3531G>C (p.Lys1177Asn)
c.3384G>C (p.Lys1128Asn)
c.3153G>C (p.Lys1051Asn)
c.2616G>C (p.Lys872Asn)
c.3501G>C (p.Lys1167Asn)
n.2294G>C
c.3423G>C (p.Lys1141Asn)
n.3486G>C
c.*976G>C (n.*976G>C)
n.4237G>C
c.*667G>C (n.*667G>C)
c.*1733G>C (n.*1733G>C)
n.4362G>C
c.2559G>C (p.Lys853Asn)
c.3318G>C (p.Lys1106Asn)
c.*3023G>C (n.*3023G>C)
n.3169G>C
c.*3101G>C (n.*3101G>C)
n.260G>C
c.3408G>C (p.Lys1136Asn)
c.3366G>C (p.Lys1122Asn)
c.3630G>C (p.Lys1210Asn)
c.3552G>C (p.Lys1184Asn)
c.3519G>C (p.Lys1173Asn)
c.3528G>C (p.Lys1176Asn)
c.2538G>C (p.Lys846Asn)
 gnomAD v4
1g.154584986C>TCA421231531ADARc.3395G>A (n.3395G>A)
c.3531G>A (p.Lys1177=)
c.3384G>A (p.Lys1128=)
c.3153G>A (p.Lys1051=)
c.2616G>A (p.Lys872=)
c.3501G>A (p.Lys1167=)
n.2294G>A
c.3423G>A (p.Lys1141=)
n.3486G>A
c.*976G>A (n.*976G>A)
n.4237G>A
c.*667G>A (n.*667G>A)
c.*1733G>A (n.*1733G>A)
n.4362G>A
c.2559G>A (p.Lys853=)
c.3318G>A (p.Lys1106=)
c.*3023G>A (n.*3023G>A)
n.3169G>A
c.*3101G>A (n.*3101G>A)
n.260G>A
c.3408G>A (p.Lys1136=)
c.3366G>A (p.Lys1122=)
c.3630G>A (p.Lys1210=)
c.3552G>A (p.Lys1184=)
c.3519G>A (p.Lys1173=)
c.3528G>A (p.Lys1176=)
c.2538G>A (p.Lys846=)
 ClinVar gnomAD v4
1g.154584987T>ACA342634821ADARc.3394A>T (n.3394A>T)
c.3530A>T (p.Lys1177Met)
c.3383A>T (p.Lys1128Met)
c.3152A>T (p.Lys1051Met)
c.2615A>T (p.Lys872Met)
c.3500A>T (p.Lys1167Met)
n.2293A>T
c.3422A>T (p.Lys1141Met)
n.3485A>T
c.*975A>T (n.*975A>T)
n.4236A>T
c.*666A>T (n.*666A>T)
c.*1732A>T (n.*1732A>T)
n.4361A>T
c.2558A>T (p.Lys853Met)
c.3317A>T (p.Lys1106Met)
c.*3022A>T (n.*3022A>T)
n.3168A>T
c.*3100A>T (n.*3100A>T)
n.259A>T
c.3407A>T (p.Lys1136Met)
c.3365A>T (p.Lys1122Met)
c.3629A>T (p.Lys1210Met)
c.3551A>T (p.Lys1184Met)
c.3518A>T (p.Lys1173Met)
c.3527A>T (p.Lys1176Met)
c.2537A>T (p.Lys846Met)
1g.154584987T>CCA342634822ADARc.3394A>G (n.3394A>G)
c.3530A>G (p.Lys1177Arg)
c.3383A>G (p.Lys1128Arg)
c.3152A>G (p.Lys1051Arg)
c.2615A>G (p.Lys872Arg)
c.3500A>G (p.Lys1167Arg)
n.2293A>G
c.3422A>G (p.Lys1141Arg)
n.3485A>G
c.*975A>G (n.*975A>G)
n.4236A>G
c.*666A>G (n.*666A>G)
c.*1732A>G (n.*1732A>G)
n.4361A>G
c.2558A>G (p.Lys853Arg)
c.3317A>G (p.Lys1106Arg)
c.*3022A>G (n.*3022A>G)
n.3168A>G
c.*3100A>G (n.*3100A>G)
n.259A>G
c.3407A>G (p.Lys1136Arg)
c.3365A>G (p.Lys1122Arg)
c.3629A>G (p.Lys1210Arg)
c.3551A>G (p.Lys1184Arg)
c.3518A>G (p.Lys1173Arg)
c.3527A>G (p.Lys1176Arg)
c.2537A>G (p.Lys846Arg)
1g.154584987T>GCA342634823ADARc.3394A>C (n.3394A>C)
c.3530A>C (p.Lys1177Thr)
c.3383A>C (p.Lys1128Thr)
c.3152A>C (p.Lys1051Thr)
c.2615A>C (p.Lys872Thr)
c.3500A>C (p.Lys1167Thr)
n.2293A>C
c.3422A>C (p.Lys1141Thr)
n.3485A>C
c.*975A>C (n.*975A>C)
n.4236A>C
c.*666A>C (n.*666A>C)
c.*1732A>C (n.*1732A>C)
n.4361A>C
c.2558A>C (p.Lys853Thr)
c.3317A>C (p.Lys1106Thr)
c.*3022A>C (n.*3022A>C)
n.3168A>C
c.*3100A>C (n.*3100A>C)
n.259A>C
c.3407A>C (p.Lys1136Thr)
c.3365A>C (p.Lys1122Thr)
c.3629A>C (p.Lys1210Thr)
c.3551A>C (p.Lys1184Thr)
c.3518A>C (p.Lys1173Thr)
c.3527A>C (p.Lys1176Thr)
c.2537A>C (p.Lys846Thr)
1g.154584988delCA2586967337ADARc.3394del (n.3394del)
c.3530del (p.Lys1177SerfsTer12)
c.3383del (p.Lys1128SerfsTer12)
c.3152del (p.Lys1051SerfsTer12)
c.2615del (p.Lys872SerfsTer12)
c.3500del (p.Lys1167SerfsTer12)
n.2293del
c.3422del (p.Lys1141SerfsTer12)
n.3485del
c.*975del (n.*975del)
n.4236del
c.*666del (n.*666del)
c.*1732del (n.*1732del)
n.4361del
c.2558del (p.Lys853SerfsTer12)
c.3317del (p.Lys1106SerfsTer12)
c.*3022del (n.*3022del)
n.3168del
c.*3100del (n.*3100del)
n.259del
c.3407del (p.Lys1136SerfsTer12)
c.3365del (p.Lys1122SerfsTer12)
c.3629del (p.Lys1210SerfsTer12)
c.3551del (p.Lys1184SerfsTer12)
c.3518del (p.Lys1173SerfsTer12)
c.3527del (p.Lys1176SerfsTer12)
c.2537del (p.Lys846SerfsTer12)
1g.154584988T>ACA342634824ADARc.3393A>T (n.3393A>T)
c.3529A>T (p.Lys1177Ter)
c.3382A>T (p.Lys1128Ter)
c.3151A>T (p.Lys1051Ter)
c.2614A>T (p.Lys872Ter)
c.3499A>T (p.Lys1167Ter)
n.2292A>T
c.3421A>T (p.Lys1141Ter)
n.3484A>T
c.*974A>T (n.*974A>T)
n.4235A>T
c.*665A>T (n.*665A>T)
c.*1731A>T (n.*1731A>T)
n.4360A>T
c.2557A>T (p.Lys853Ter)
c.3316A>T (p.Lys1106Ter)
c.*3021A>T (n.*3021A>T)
n.3167A>T
c.*3099A>T (n.*3099A>T)
n.258A>T
c.3406A>T (p.Lys1136Ter)
c.3364A>T (p.Lys1122Ter)
c.3628A>T (p.Lys1210Ter)
c.3550A>T (p.Lys1184Ter)
c.3517A>T (p.Lys1173Ter)
c.3526A>T (p.Lys1176Ter)
c.2536A>T (p.Lys846Ter)
1g.154584988T>CCA342634826ADARc.3393A>G (n.3393A>G)
c.3529A>G (p.Lys1177Glu)
c.3382A>G (p.Lys1128Glu)
c.3151A>G (p.Lys1051Glu)
c.2614A>G (p.Lys872Glu)
c.3499A>G (p.Lys1167Glu)
n.2292A>G
c.3421A>G (p.Lys1141Glu)
n.3484A>G
c.*974A>G (n.*974A>G)
n.4235A>G
c.*665A>G (n.*665A>G)
c.*1731A>G (n.*1731A>G)
n.4360A>G
c.2557A>G (p.Lys853Glu)
c.3316A>G (p.Lys1106Glu)
c.*3021A>G (n.*3021A>G)
n.3167A>G
c.*3099A>G (n.*3099A>G)
n.258A>G
c.3406A>G (p.Lys1136Glu)
c.3364A>G (p.Lys1122Glu)
c.3628A>G (p.Lys1210Glu)
c.3550A>G (p.Lys1184Glu)
c.3517A>G (p.Lys1173Glu)
c.3526A>G (p.Lys1176Glu)
c.2536A>G (p.Lys846Glu)
1g.154584988T>GCA342634825ADARc.3393A>C (n.3393A>C)
c.3529A>C (p.Lys1177Gln)
c.3382A>C (p.Lys1128Gln)
c.3151A>C (p.Lys1051Gln)
c.2614A>C (p.Lys872Gln)
c.3499A>C (p.Lys1167Gln)
n.2292A>C
c.3421A>C (p.Lys1141Gln)
n.3484A>C
c.*974A>C (n.*974A>C)
n.4235A>C
c.*665A>C (n.*665A>C)
c.*1731A>C (n.*1731A>C)
n.4360A>C
c.2557A>C (p.Lys853Gln)
c.3316A>C (p.Lys1106Gln)
c.*3021A>C (n.*3021A>C)
n.3167A>C
c.*3099A>C (n.*3099A>C)
n.258A>C
c.3406A>C (p.Lys1136Gln)
c.3364A>C (p.Lys1122Gln)
c.3628A>C (p.Lys1210Gln)
c.3550A>C (p.Lys1184Gln)
c.3517A>C (p.Lys1173Gln)
c.3526A>C (p.Lys1176Gln)
c.2536A>C (p.Lys846Gln)
 ClinVar dbSNP gnomAD v4
1g.154584988T=CA2480931228ADARc.3393A= (n.3393A=)
c.3529A= (p.Lys1177=)
c.3382A= (p.Lys1128=)
c.3151A= (p.Lys1051=)
c.2614A= (p.Lys872=)
c.3499A= (p.Lys1167=)
n.2292A=
c.3421A= (p.Lys1141=)
n.3484A=
c.*974A= (n.*974A=)
n.4235A=
c.*665A= (n.*665A=)
c.*1731A= (n.*1731A=)
n.4360A=
c.2557A= (p.Lys853=)
c.3316A= (p.Lys1106=)
c.*3021A= (n.*3021A=)
n.3167A=
c.*3099A= (n.*3099A=)
n.258A=
c.3406A= (p.Lys1136=)
c.3364A= (p.Lys1122=)
c.3628A= (p.Lys1210=)
c.3550A= (p.Lys1184=)
c.3517A= (p.Lys1173=)
c.3526A= (p.Lys1176=)
c.2536A= (p.Lys846=)
1g.154584989C>ACA342634827ADARc.3392G>T (n.3392G>T)
c.3528G>T (p.Lys1176Asn)
c.3381G>T (p.Lys1127Asn)
c.3150G>T (p.Lys1050Asn)
c.2613G>T (p.Lys871Asn)
c.3498G>T (p.Lys1166Asn)
n.2291G>T
c.3420G>T (p.Lys1140Asn)
n.3483G>T
c.*973G>T (n.*973G>T)
n.4234G>T
c.*664G>T (n.*664G>T)
c.*1730G>T (n.*1730G>T)
n.4359G>T
c.2556G>T (p.Lys852Asn)
c.3315G>T (p.Lys1105Asn)
c.*3020G>T (n.*3020G>T)
n.3166G>T
c.*3098G>T (n.*3098G>T)
n.257G>T
c.3405G>T (p.Lys1135Asn)
c.3363G>T (p.Lys1121Asn)
c.3627G>T (p.Lys1209Asn)
c.3549G>T (p.Lys1183Asn)
c.3516G>T (p.Lys1172Asn)
c.3525G>T (p.Lys1175Asn)
c.2535G>T (p.Lys845Asn)
1g.154584989C>GCA342634828ADARc.3392G>C (n.3392G>C)
c.3528G>C (p.Lys1176Asn)
c.3381G>C (p.Lys1127Asn)
c.3150G>C (p.Lys1050Asn)
c.2613G>C (p.Lys871Asn)
c.3498G>C (p.Lys1166Asn)
n.2291G>C
c.3420G>C (p.Lys1140Asn)
n.3483G>C
c.*973G>C (n.*973G>C)
n.4234G>C
c.*664G>C (n.*664G>C)
c.*1730G>C (n.*1730G>C)
n.4359G>C
c.2556G>C (p.Lys852Asn)
c.3315G>C (p.Lys1105Asn)
c.*3020G>C (n.*3020G>C)
n.3166G>C
c.*3098G>C (n.*3098G>C)
n.257G>C
c.3405G>C (p.Lys1135Asn)
c.3363G>C (p.Lys1121Asn)
c.3627G>C (p.Lys1209Asn)
c.3549G>C (p.Lys1183Asn)
c.3516G>C (p.Lys1172Asn)
c.3525G>C (p.Lys1175Asn)
c.2535G>C (p.Lys845Asn)
1g.154584989C>TCA421231534ADARc.3392G>A (n.3392G>A)
c.3528G>A (p.Lys1176=)
c.3381G>A (p.Lys1127=)
c.3150G>A (p.Lys1050=)
c.2613G>A (p.Lys871=)
c.3498G>A (p.Lys1166=)
n.2291G>A
c.3420G>A (p.Lys1140=)
n.3483G>A
c.*973G>A (n.*973G>A)
n.4234G>A
c.*664G>A (n.*664G>A)
c.*1730G>A (n.*1730G>A)
n.4359G>A
c.2556G>A (p.Lys852=)
c.3315G>A (p.Lys1105=)
c.*3020G>A (n.*3020G>A)
n.3166G>A
c.*3098G>A (n.*3098G>A)
n.257G>A
c.3405G>A (p.Lys1135=)
c.3363G>A (p.Lys1121=)
c.3627G>A (p.Lys1209=)
c.3549G>A (p.Lys1183=)
c.3516G>A (p.Lys1172=)
c.3525G>A (p.Lys1175=)
c.2535G>A (p.Lys845=)
1g.154584990T>ACA342634829ADARc.3391A>T (n.3391A>T)
c.3527A>T (p.Lys1176Met)
c.3380A>T (p.Lys1127Met)
c.3149A>T (p.Lys1050Met)
c.2612A>T (p.Lys871Met)
c.3497A>T (p.Lys1166Met)
n.2290A>T
c.3419A>T (p.Lys1140Met)
n.3482A>T
c.*972A>T (n.*972A>T)
n.4233A>T
c.*663A>T (n.*663A>T)
c.*1729A>T (n.*1729A>T)
n.4358A>T
c.2555A>T (p.Lys852Met)
c.3314A>T (p.Lys1105Met)
c.*3019A>T (n.*3019A>T)
n.3165A>T
c.*3097A>T (n.*3097A>T)
n.256A>T
c.3404A>T (p.Lys1135Met)
c.3362A>T (p.Lys1121Met)
c.3626A>T (p.Lys1209Met)
c.3548A>T (p.Lys1183Met)
c.3515A>T (p.Lys1172Met)
c.3524A>T (p.Lys1175Met)
c.2534A>T (p.Lys845Met)
1g.154584990T>CCA342634830ADARc.3391A>G (n.3391A>G)
c.3527A>G (p.Lys1176Arg)
c.3380A>G (p.Lys1127Arg)
c.3149A>G (p.Lys1050Arg)
c.2612A>G (p.Lys871Arg)
c.3497A>G (p.Lys1166Arg)
n.2290A>G
c.3419A>G (p.Lys1140Arg)
n.3482A>G
c.*972A>G (n.*972A>G)
n.4233A>G
c.*663A>G (n.*663A>G)
c.*1729A>G (n.*1729A>G)
n.4358A>G
c.2555A>G (p.Lys852Arg)
c.3314A>G (p.Lys1105Arg)
c.*3019A>G (n.*3019A>G)
n.3165A>G
c.*3097A>G (n.*3097A>G)
n.256A>G
c.3404A>G (p.Lys1135Arg)
c.3362A>G (p.Lys1121Arg)
c.3626A>G (p.Lys1209Arg)
c.3548A>G (p.Lys1183Arg)
c.3515A>G (p.Lys1172Arg)
c.3524A>G (p.Lys1175Arg)
c.2534A>G (p.Lys845Arg)
1g.154584990T>GCA342634831ADARc.3391A>C (n.3391A>C)
c.3527A>C (p.Lys1176Thr)
c.3380A>C (p.Lys1127Thr)
c.3149A>C (p.Lys1050Thr)
c.2612A>C (p.Lys871Thr)
c.3497A>C (p.Lys1166Thr)
n.2290A>C
c.3419A>C (p.Lys1140Thr)
n.3482A>C
c.*972A>C (n.*972A>C)
n.4233A>C
c.*663A>C (n.*663A>C)
c.*1729A>C (n.*1729A>C)
n.4358A>C
c.2555A>C (p.Lys852Thr)
c.3314A>C (p.Lys1105Thr)
c.*3019A>C (n.*3019A>C)
n.3165A>C
c.*3097A>C (n.*3097A>C)
n.256A>C
c.3404A>C (p.Lys1135Thr)
c.3362A>C (p.Lys1121Thr)
c.3626A>C (p.Lys1209Thr)
c.3548A>C (p.Lys1183Thr)
c.3515A>C (p.Lys1172Thr)
c.3524A>C (p.Lys1175Thr)
c.2534A>C (p.Lys845Thr)
1g.154584991T>ACA342634832ADARc.3390A>T (n.3390A>T)
c.3526A>T (p.Lys1176Ter)
c.3379A>T (p.Lys1127Ter)
c.3148A>T (p.Lys1050Ter)
c.2611A>T (p.Lys871Ter)
c.3496A>T (p.Lys1166Ter)
n.2289A>T
c.3418A>T (p.Lys1140Ter)
n.3481A>T
c.*971A>T (n.*971A>T)
n.4232A>T
c.*662A>T (n.*662A>T)
c.*1728A>T (n.*1728A>T)
n.4357A>T
c.2554A>T (p.Lys852Ter)
c.3313A>T (p.Lys1105Ter)
c.*3018A>T (n.*3018A>T)
n.3164A>T
c.*3096A>T (n.*3096A>T)
n.255A>T
c.3403A>T (p.Lys1135Ter)
c.3361A>T (p.Lys1121Ter)
c.3625A>T (p.Lys1209Ter)
c.3547A>T (p.Lys1183Ter)
c.3514A>T (p.Lys1172Ter)
c.3523A>T (p.Lys1175Ter)
c.2533A>T (p.Lys845Ter)
1g.154584991T>CCA342634833ADARc.3390A>G (n.3390A>G)
c.3526A>G (p.Lys1176Glu)
c.3379A>G (p.Lys1127Glu)
c.3148A>G (p.Lys1050Glu)
c.2611A>G (p.Lys871Glu)
c.3496A>G (p.Lys1166Glu)
n.2289A>G
c.3418A>G (p.Lys1140Glu)
n.3481A>G
c.*971A>G (n.*971A>G)
n.4232A>G
c.*662A>G (n.*662A>G)
c.*1728A>G (n.*1728A>G)
n.4357A>G
c.2554A>G (p.Lys852Glu)
c.3313A>G (p.Lys1105Glu)
c.*3018A>G (n.*3018A>G)
n.3164A>G
c.*3096A>G (n.*3096A>G)
n.255A>G
c.3403A>G (p.Lys1135Glu)
c.3361A>G (p.Lys1121Glu)
c.3625A>G (p.Lys1209Glu)
c.3547A>G (p.Lys1183Glu)
c.3514A>G (p.Lys1172Glu)
c.3523A>G (p.Lys1175Glu)
c.2533A>G (p.Lys845Glu)
1g.154584991T>GCA342634834ADARc.3390A>C (n.3390A>C)
c.3526A>C (p.Lys1176Gln)
c.3379A>C (p.Lys1127Gln)
c.3148A>C (p.Lys1050Gln)
c.2611A>C (p.Lys871Gln)
c.3496A>C (p.Lys1166Gln)
n.2289A>C
c.3418A>C (p.Lys1140Gln)
n.3481A>C
c.*971A>C (n.*971A>C)
n.4232A>C
c.*662A>C (n.*662A>C)
c.*1728A>C (n.*1728A>C)
n.4357A>C
c.2554A>C (p.Lys852Gln)
c.3313A>C (p.Lys1105Gln)
c.*3018A>C (n.*3018A>C)
n.3164A>C
c.*3096A>C (n.*3096A>C)
n.255A>C
c.3403A>C (p.Lys1135Gln)
c.3361A>C (p.Lys1121Gln)
c.3625A>C (p.Lys1209Gln)
c.3547A>C (p.Lys1183Gln)
c.3514A>C (p.Lys1172Gln)
c.3523A>C (p.Lys1175Gln)
c.2533A>C (p.Lys845Gln)
1g.154584992A=CA2480931229ADARc.3389T= (n.3389T=)
c.3525T= (p.Phe1175=)
c.3378T= (p.Phe1126=)
c.3147T= (p.Phe1049=)
c.2610T= (p.Phe870=)
c.3495T= (p.Phe1165=)
n.2288T=
c.3417T= (p.Phe1139=)
n.3480T=
c.*970T= (n.*970T=)
n.4231T=
c.*661T= (n.*661T=)
c.*1727T= (n.*1727T=)
n.4356T=
c.2553T= (p.Phe851=)
c.3312T= (p.Phe1104=)
c.*3017T= (n.*3017T=)
n.3163T=
c.*3095T= (n.*3095T=)
n.254T=
c.3402T= (p.Phe1134=)
c.3360T= (p.Phe1120=)
c.3624T= (p.Phe1208=)
c.3546T= (p.Phe1182=)
c.3513T= (p.Phe1171=)
c.3522T= (p.Phe1174=)
c.2532T= (p.Phe844=)
1g.154584992A>CCA342634835ADARc.3389T>G (n.3389T>G)
c.3525T>G (p.Phe1175Leu)
c.3378T>G (p.Phe1126Leu)
c.3147T>G (p.Phe1049Leu)
c.2610T>G (p.Phe870Leu)
c.3495T>G (p.Phe1165Leu)
n.2288T>G
c.3417T>G (p.Phe1139Leu)
n.3480T>G
c.*970T>G (n.*970T>G)
n.4231T>G
c.*661T>G (n.*661T>G)
c.*1727T>G (n.*1727T>G)
n.4356T>G
c.2553T>G (p.Phe851Leu)
c.3312T>G (p.Phe1104Leu)
c.*3017T>G (n.*3017T>G)
n.3163T>G
c.*3095T>G (n.*3095T>G)
n.254T>G
c.3402T>G (p.Phe1134Leu)
c.3360T>G (p.Phe1120Leu)
c.3624T>G (p.Phe1208Leu)
c.3546T>G (p.Phe1182Leu)
c.3513T>G (p.Phe1171Leu)
c.3522T>G (p.Phe1174Leu)
c.2532T>G (p.Phe844Leu)
1g.154584992A>GCA30848666ADARc.3389T>C (n.3389T>C)
c.3525T>C (p.Phe1175=)
c.3378T>C (p.Phe1126=)
c.3147T>C (p.Phe1049=)
c.2610T>C (p.Phe870=)
c.3495T>C (p.Phe1165=)
n.2288T>C
c.3417T>C (p.Phe1139=)
n.3480T>C
c.*970T>C (n.*970T>C)
n.4231T>C
c.*661T>C (n.*661T>C)
c.*1727T>C (n.*1727T>C)
n.4356T>C
c.2553T>C (p.Phe851=)
c.3312T>C (p.Phe1104=)
c.*3017T>C (n.*3017T>C)
n.3163T>C
c.*3095T>C (n.*3095T>C)
n.254T>C
c.3402T>C (p.Phe1134=)
c.3360T>C (p.Phe1120=)
c.3624T>C (p.Phe1208=)
c.3546T>C (p.Phe1182=)
c.3513T>C (p.Phe1171=)
c.3522T>C (p.Phe1174=)
c.2532T>C (p.Phe844=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154584992A>TCA342634836ADARc.3389T>A (n.3389T>A)
c.3525T>A (p.Phe1175Leu)
c.3378T>A (p.Phe1126Leu)
c.3147T>A (p.Phe1049Leu)
c.2610T>A (p.Phe870Leu)
c.3495T>A (p.Phe1165Leu)
n.2288T>A
c.3417T>A (p.Phe1139Leu)
n.3480T>A
c.*970T>A (n.*970T>A)
n.4231T>A
c.*661T>A (n.*661T>A)
c.*1727T>A (n.*1727T>A)
n.4356T>A
c.2553T>A (p.Phe851Leu)
c.3312T>A (p.Phe1104Leu)
c.*3017T>A (n.*3017T>A)
n.3163T>A
c.*3095T>A (n.*3095T>A)
n.254T>A
c.3402T>A (p.Phe1134Leu)
c.3360T>A (p.Phe1120Leu)
c.3624T>A (p.Phe1208Leu)
c.3546T>A (p.Phe1182Leu)
c.3513T>A (p.Phe1171Leu)
c.3522T>A (p.Phe1174Leu)
c.2532T>A (p.Phe844Leu)
1g.154584993A=CA1140495917ADARc.3388T= (n.3388T=)
c.3524T= (p.Phe1175=)
c.3377T= (p.Phe1126=)
c.3146T= (p.Phe1049=)
c.2609T= (p.Phe870=)
c.3494T= (p.Phe1165=)
n.2287T=
c.3416T= (p.Phe1139=)
n.3479T=
c.*969T= (n.*969T=)
n.4230T=
c.*660T= (n.*660T=)
c.*1726T= (n.*1726T=)
n.4355T=
c.2552T= (p.Phe851=)
c.3311T= (p.Phe1104=)
c.*3016T= (n.*3016T=)
n.3162T=
c.*3094T= (n.*3094T=)
n.253T=
c.3401T= (p.Phe1134=)
c.3359T= (p.Phe1120=)
c.3623T= (p.Phe1208=)
c.3545T= (p.Phe1182=)
c.3512T= (p.Phe1171=)
c.3521T= (p.Phe1174=)
c.2531T= (p.Phe844=)
1g.154584993A>CCA342634838ADARc.3388T>G (n.3388T>G)
c.3524T>G (p.Phe1175Cys)
c.3377T>G (p.Phe1126Cys)
c.3146T>G (p.Phe1049Cys)
c.2609T>G (p.Phe870Cys)
c.3494T>G (p.Phe1165Cys)
n.2287T>G
c.3416T>G (p.Phe1139Cys)
n.3479T>G
c.*969T>G (n.*969T>G)
n.4230T>G
c.*660T>G (n.*660T>G)
c.*1726T>G (n.*1726T>G)
n.4355T>G
c.2552T>G (p.Phe851Cys)
c.3311T>G (p.Phe1104Cys)
c.*3016T>G (n.*3016T>G)
n.3162T>G
c.*3094T>G (n.*3094T>G)
n.253T>G
c.3401T>G (p.Phe1134Cys)
c.3359T>G (p.Phe1120Cys)
c.3623T>G (p.Phe1208Cys)
c.3545T>G (p.Phe1182Cys)
c.3512T>G (p.Phe1171Cys)
c.3521T>G (p.Phe1174Cys)
c.2531T>G (p.Phe844Cys)
1g.154584993A>GCA124351ADARc.3388T>C (n.3388T>C)
c.3524T>C (p.Phe1175Ser)
c.3377T>C (p.Phe1126Ser)
c.3146T>C (p.Phe1049Ser)
c.2609T>C (p.Phe870Ser)
c.3494T>C (p.Phe1165Ser)
n.2287T>C
c.3416T>C (p.Phe1139Ser)
n.3479T>C
c.*969T>C (n.*969T>C)
n.4230T>C
c.*660T>C (n.*660T>C)
c.*1726T>C (n.*1726T>C)
n.4355T>C
c.2552T>C (p.Phe851Ser)
c.3311T>C (p.Phe1104Ser)
c.*3016T>C (n.*3016T>C)
n.3162T>C
c.*3094T>C (n.*3094T>C)
n.253T>C
c.3401T>C (p.Phe1134Ser)
c.3359T>C (p.Phe1120Ser)
c.3623T>C (p.Phe1208Ser)
c.3545T>C (p.Phe1182Ser)
c.3512T>C (p.Phe1171Ser)
c.3521T>C (p.Phe1174Ser)
c.2531T>C (p.Phe844Ser)
 ClinVar dbSNP gnomAD v2
1g.154584993A>TCA342634837ADARc.3388T>A (n.3388T>A)
c.3524T>A (p.Phe1175Tyr)
c.3377T>A (p.Phe1126Tyr)
c.3146T>A (p.Phe1049Tyr)
c.2609T>A (p.Phe870Tyr)
c.3494T>A (p.Phe1165Tyr)
n.2287T>A
c.3416T>A (p.Phe1139Tyr)
n.3479T>A
c.*969T>A (n.*969T>A)
n.4230T>A
c.*660T>A (n.*660T>A)
c.*1726T>A (n.*1726T>A)
n.4355T>A
c.2552T>A (p.Phe851Tyr)
c.3311T>A (p.Phe1104Tyr)
c.*3016T>A (n.*3016T>A)
n.3162T>A
c.*3094T>A (n.*3094T>A)
n.253T>A
c.3401T>A (p.Phe1134Tyr)
c.3359T>A (p.Phe1120Tyr)
c.3623T>A (p.Phe1208Tyr)
c.3545T>A (p.Phe1182Tyr)
c.3512T>A (p.Phe1171Tyr)
c.3521T>A (p.Phe1174Tyr)
c.2531T>A (p.Phe844Tyr)

Number of alleles fetched