Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154584893G>A | CA421231423 | ADAR | c.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 |
1 | g.154584893G>C | CA342634617 | ADAR | c.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) | |
1 | g.154584893G= | CA2480931194 | ADAR | c.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=) | |
1 | g.154584893G>T | CA342634618 | ADAR | c.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 |
1 | g.154584894T>A | CA342634619 | ADAR | c.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) | |
1 | g.154584894T>C | CA342634620 | ADAR | c.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) | |
1 | g.154584894T>G | CA342634621 | ADAR | c.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) | |
1 | g.154584895A>C | CA342634622 | ADAR | c.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) | |
1 | g.154584895A>G | CA342634624 | ADAR | c.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) | |
1 | g.154584895A>T | CA342634623 | ADAR | c.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) | |
1 | g.154584896G>A | CA421231428 | ADAR | c.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=) | |
1 | g.154584896G>C | CA342634625 | ADAR | c.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) | |
1 | g.154584896G>T | CA342634626 | ADAR | c.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) | |
1 | g.154584897T>A | CA342634627 | ADAR | c.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) | |
1 | g.154584897T>C | CA342634629 | ADAR | c.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) | |
1 | g.154584897T>G | CA342634628 | ADAR | c.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) | |
1 | g.154584898T>A | CA342634630 | ADAR | c.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) | |
1 | g.154584898T>C | CA342634632 | ADAR | c.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 |
1 | g.154584898T>G | CA342634631 | ADAR | c.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 |
1 | g.154584899C>A | CA342634633 | ADAR | c.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) | |
1 | g.154584899C>G | CA342634634 | ADAR | c.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) | |
1 | g.154584899C>T | CA421231435 | ADAR | c.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 |
1 | g.154584900T>A | CA342634635 | ADAR | c.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) | |
1 | g.154584900T>C | CA342634637 | ADAR | c.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) | |
1 | g.154584900T>G | CA342634636 | ADAR | c.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) | |
1 | g.154584901T>A | CA342634638 | ADAR | c.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) | |
1 | g.154584901T>C | CA342634640 | ADAR | c.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 |
1 | g.154584901T>G | CA342634639 | ADAR | c.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) | |
1 | g.154584902G>A | CA421231437 | ADAR | c.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=) | |
1 | g.154584902G>C | CA421231438 | ADAR | c.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=) | |
1 | g.154584902G>T | CA421231439 | ADAR | c.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=) | |
1 | g.154584903G>A | CA342634641 | ADAR | c.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) | |
1 | g.154584903G>C | CA30848578 | ADAR | c.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 |
1 | g.154584903G= | CA2480931195 | ADAR | c.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=) | |
1 | g.154584903G>T | CA342634642 | ADAR | c.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) | |
1 | g.154584904C>A | CA342634643 | ADAR | c.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) | |
1 | g.154584904C>G | CA342634645 | ADAR | c.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) | |
1 | g.154584904C>T | CA342634644 | ADAR | c.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 |
1 | g.154584905C>A | CA421231440 | ADAR | c.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 |
1 | g.154584905C= | CA2480931196 | ADAR | c.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=) | |
1 | g.154584905C>G | CA421231441 | ADAR | c.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=) | |
1 | g.154584905C>T | CA1130917 | ADAR | c.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 |
1 | g.154584906G>A | CA1130918 | ADAR | c.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 |
1 | g.154584906G>C | CA342634646 | ADAR | c.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) | |
1 | g.154584906G= | CA1143562032 | ADAR | c.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=) | |
1 | g.154584906G>T | CA342634647 | ADAR | c.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) | |
1 | g.154584907T>A | CA342634648 | ADAR | c.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) | |
1 | g.154584907T>C | CA342634649 | ADAR | c.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 |
1 | g.154584907T>G | CA342634650 | ADAR | c.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) | |
1 | g.154584908C>A | CA342634651 | ADAR | c.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 |
1 | g.154584908C>G | CA342634652 | ADAR | c.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) | |
1 | g.154584908C>T | CA421231445 | ADAR | c.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=) | |
1 | g.154584909T>A | CA342634653 | ADAR | c.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) | |
1 | g.154584909T>C | CA342634654 | ADAR | c.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) | |
1 | g.154584909T>G | CA342634655 | ADAR | c.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) | |
1 | g.154584910C>A | CA342634657 | ADAR | c.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) | |
1 | g.154584910C= | CA2480931197 | ADAR | c.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=) | |
1 | g.154584910C>G | CA342634656 | ADAR | c.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) | |
1 | g.154584910C>T | CA16616992 | ADAR | c.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 |
1 | g.154584911G>A | CA1130919 | ADAR | c.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 |
1 | g.154584911G>C | CA342634658 | ADAR | c.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) | |
1 | g.154584911G= | CA2480931198 | ADAR | c.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=) | |
1 | g.154584911G>T | CA342634659 | ADAR | c.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) | |
1 | g.154584912T>A | CA342634660 | ADAR | c.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) | |
1 | g.154584912T>C | CA342634661 | ADAR | c.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 |
1 | g.154584912T>G | CA342634662 | ADAR | c.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) | |
1 | g.154584913A>C | CA342634663 | ADAR | c.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 |
1 | g.154584913A>G | CA342634664 | ADAR | c.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) | |
1 | g.154584913A>T | CA342634665 | ADAR | c.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) | |
1 | g.154584914G>A | CA421231449 | ADAR | c.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=) | |
1 | g.154584914G>C | CA342634666 | ADAR | c.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) | |
1 | g.154584914G>T | CA342634667 | ADAR | c.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 |
1 | g.154584915T>A | CA342634669 | ADAR | c.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) | |
1 | g.154584915T>C | CA342634670 | ADAR | c.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) | |
1 | g.154584915T>G | CA342634668 | ADAR | c.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) | |
1 | g.154584915_154584916insAA | CA2740187397 | ADAR | c.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) | |
1 | g.154584916C>A | CA342634671 | ADAR | c.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) | |
1 | g.154584916C= | CA2480931199 | ADAR | c.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=) | |
1 | g.154584916C>G | CA342634672 | ADAR | c.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 |
1 | g.154584916C>T | CA342634673 | ADAR | c.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) | |
1 | g.154584917A= | CA2480931200 | ADAR | c.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=) | |
1 | g.154584917A>C | CA421231450 | ADAR | c.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 |
1 | g.154584917A>G | CA421231452 | ADAR | c.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=) | |
1 | g.154584917A>T | CA421231451 | ADAR | c.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=) | |
1 | g.154584918C>A | CA342634674 | ADAR | c.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) | |
1 | g.154584918C= | CA2480931201 | ADAR | c.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=) | |
1 | g.154584918C>G | CA342634675 | ADAR | c.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) | |
1 | g.154584918C>T | CA342634676 | ADAR | c.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 |
1 | g.154584919G>A | CA30848594 | ADAR | c.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 |
1 | g.154584919G>C | CA342634678 | ADAR | c.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 |
1 | g.154584919G= | CA2480931202 | ADAR | c.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=) | |
1 | g.154584919G>T | CA342634677 | ADAR | c.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) | |
1 | g.154584920G>A | CA1130920 | ADAR | c.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 |
1 | g.154584920G>C | CA421231454 | ADAR | c.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 |
1 | g.154584920G= | CA1143732040 | ADAR | c.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=) | |
1 | g.154584920G>T | CA421231455 | ADAR | c.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=) | |
1 | g.154584921G>A | CA342634679 | ADAR | c.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 |
1 | g.154584921G>C | CA342634680 | ADAR | c.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) | |
1 | g.154584921G>T | CA342634681 | ADAR | c.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) | |
1 | g.154584922C>A | CA342634682 | ADAR | c.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) | |
1 | g.154584922C>G | CA342634684 | ADAR | c.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) | |
1 | g.154584922C>T | CA342634683 | ADAR | c.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) | |
1 | g.154584923A>C | CA421231459 | ADAR | c.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=) | |
1 | g.154584923A>G | CA421231460 | ADAR | c.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 |
1 | g.154584923A>T | CA421231461 | ADAR | c.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=) | |
1 | g.154584924G>A | CA342634685 | ADAR | c.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 |
1 | g.154584924G>C | CA342634686 | ADAR | c.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) | |
1 | g.154584924G>T | CA342634687 | ADAR | c.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) | |
1 | g.154584925C>A | CA342634688 | ADAR | c.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) | |
1 | g.154584925C= | CA2480931203 | ADAR | c.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=) | |
1 | g.154584925C>G | CA342634689 | ADAR | c.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) | |
1 | g.154584925C>T | CA1130921 | ADAR | c.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 |
1 | g.154584926T>A | CA342634690 | ADAR | c.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) | |
1 | g.154584926T>C | CA421231465 | ADAR | c.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 |
1 | g.154584926T>G | CA342634691 | ADAR | c.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 |
1 | g.154584926T= | CA2480931204 | ADAR | c.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=) | |
1 | g.154584928dup | CA2573912075 | ADAR | c.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) | |
1 | g.154584927T>A | CA342634692 | ADAR | c.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) | |
1 | g.154584927T>C | CA342634693 | ADAR | c.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) | |
1 | g.154584927T>G | CA342634694 | ADAR | c.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) | |
1 | g.154584928T>A | CA342634697 | ADAR | c.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) | |
1 | g.154584928T>C | CA342634696 | ADAR | c.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) | |
1 | g.154584928T>G | CA342634695 | ADAR | c.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) | |
1 | g.154584929C>A | CA342634698 | ADAR | c.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) | |
1 | g.154584929C>G | CA342634699 | ADAR | c.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) | |
1 | g.154584929C>T | CA421231469 | ADAR | c.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=) | |
1 | g.154584930T>A | CA342634700 | ADAR | c.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) | |
1 | g.154584930T>C | CA342634701 | ADAR | c.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 |
1 | g.154584930T>G | CA342634702 | ADAR | c.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) | |
1 | g.154584931T>A | CA342634703 | ADAR | c.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) | |
1 | g.154584931T>C | CA342634704 | ADAR | c.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 |
1 | g.154584931T>G | CA342634705 | ADAR | c.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) | |
1 | g.154584932G>A | CA421231471 | ADAR | c.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=) | |
1 | g.154584932G>C | CA421231474 | ADAR | c.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=) | |
1 | g.154584932G>T | CA421231472 | ADAR | c.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=) | |
1 | g.154584933G>A | CA342634706 | ADAR | c.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 |
1 | g.154584933G>C | CA342634707 | ADAR | c.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) | |
1 | g.154584933G>T | CA342634708 | ADAR | c.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) | |
1 | g.154584934C>A | CA342634709 | ADAR | c.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 |
1 | g.154584934C>G | CA342634710 | ADAR | c.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) | |
1 | g.154584934C>T | CA342634711 | ADAR | c.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) | |
1 | g.154584935C>A | CA342634713 | ADAR | c.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) | |
1 | g.154584935C>G | CA342634712 | ADAR | c.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) | |
1 | g.154584935C>T | CA421231476 | ADAR | c.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=) | |
1 | g.154584936T>A | CA342634714 | ADAR | c.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) | |
1 | g.154584936T>C | CA342634715 | ADAR | c.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) | |
1 | g.154584936T>G | CA342634716 | ADAR | c.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) | |
1 | g.154584937C>A | CA342634717 | ADAR | c.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) | |
1 | g.154584937C>G | CA342634718 | ADAR | c.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) | |
1 | g.154584937C>T | CA342634719 | ADAR | c.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 |
1 | g.154584938A= | CA2480931205 | ADAR | c.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=) | |
1 | g.154584938A>C | CA421231480 | ADAR | c.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 |
1 | g.154584938A>G | CA421231481 | ADAR | c.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=) | |
1 | g.154584938A>T | CA421231482 | ADAR | c.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=) | |
1 | g.154584939C>A | CA342634720 | ADAR | c.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 |
1 | g.154584939C= | CA2480931206 | ADAR | c.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=) | |
1 | g.154584939C>G | CA342634721 | ADAR | c.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) | |
1 | g.154584939C>T | CA1130922 | ADAR | c.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 |
1 | g.154584940C>A | CA342634722 | ADAR | c.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) | |
1 | g.154584940C>G | CA342634723 | ADAR | c.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 |
1 | g.154584940C>T | CA342634724 | ADAR | c.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) | |
1 | g.154584941A>C | CA342634726 | ADAR | c.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) | |
1 | g.154584941A>G | CA421231485 | ADAR | c.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 |
1 | g.154584941A>T | CA342634725 | ADAR | c.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) | |
1 | g.154584942T>A | CA342634727 | ADAR | c.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) | |
1 | g.154584942T>C | CA30848629 | ADAR | c.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 |
1 | g.154584942T>G | CA342634728 | ADAR | c.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) | |
1 | g.154584942T= | CA2480931207 | ADAR | c.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=) | |
1 | g.154584943A>C | CA342634729 | ADAR | c.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) | |
1 | g.154584943A>G | CA342634730 | ADAR | c.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) | |
1 | g.154584943A>T | CA342634731 | ADAR | c.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) | |
1 | g.154584944G>A | CA421231488 | ADAR | c.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=) | |
1 | g.154584944G>C | CA421231489 | ADAR | c.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=) | |
1 | g.154584944G>T | CA421231490 | ADAR | c.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=) | |
1 | g.154584945del | CA2580061112 | ADAR | c.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 |
1 | g.154584945G>A | CA342634732 | ADAR | c.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) | |
1 | g.154584945G>C | CA342634733 | ADAR | c.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) | |
1 | g.154584945G>T | CA342634734 | ADAR | c.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) | |
1 | g.154584946del | CA2586967335 | ADAR | c.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) | |
1 | g.154584946A= | CA1143983933 | ADAR | c.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=) | |
1 | g.154584946A>C | CA342634735 | ADAR | c.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) | |
1 | g.154584946A>G | CA30848642 | ADAR | c.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 |
1 | g.154584946A>T | CA342634736 | ADAR | c.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) | |
1 | g.154584947G>A | CA1130923 | ADAR | c.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 |
1 | g.154584947G>C | CA421231491 | ADAR | c.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=) | |
1 | g.154584947G= | CA1143596632 | ADAR | c.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=) | |
1 | g.154584947G>T | CA421231492 | ADAR | c.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=) | |
1 | g.154584948A>C | CA342634739 | ADAR | c.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) | |
1 | g.154584948A>G | CA342634737 | ADAR | c.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) | |
1 | g.154584948A>T | CA342634738 | ADAR | c.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 |
1 | g.154584949G>A | CA342634740 | ADAR | c.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 |
1 | g.154584949G>C | CA342634741 | ADAR | c.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 |
1 | g.154584949G= | CA2480931208 | ADAR | c.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=) | |
1 | g.154584949G>T | CA342634742 | ADAR | c.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) | |
1 | g.154584950T>A | CA342634743 | ADAR | c.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) | |
1 | g.154584950T>C | CA421231495 | ADAR | c.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 |
1 | g.154584950T>G | CA342634744 | ADAR | c.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) | |
1 | g.154584950T= | CA2480931209 | ADAR | c.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=) | |
1 | g.154584951C>A | CA342634745 | ADAR | c.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) | |
1 | g.154584951C>G | CA342634746 | ADAR | c.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) | |
1 | g.154584951C>T | CA342634747 | ADAR | c.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) | |
1 | g.154584952T>A | CA342634748 | ADAR | c.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) | |
1 | g.154584952T>C | CA342634749 | ADAR | c.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) | |
1 | g.154584952T>G | CA421231496 | ADAR | c.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=) | |
1 | g.154584953C>A | CA421231497 | ADAR | c.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=) | |
1 | g.154584953C>G | CA421231498 | ADAR | c.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=) | |
1 | g.154584953C>T | CA421231499 | ADAR | c.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 |
1 | g.154584954A>C | CA342634750 | ADAR | c.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) | |
1 | g.154584954A>G | CA342634751 | ADAR | c.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) | |
1 | g.154584954A>T | CA342634752 | ADAR | c.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) | |
1 | g.154584954_154584957del | CA2648175663 | ADAR | c.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 |
1 | g.154584955G>A | CA421231501 | ADAR | c.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 |
1 | g.154584955G>C | CA342634753 | ADAR | c.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) | |
1 | g.154584955G= | CA2480931210 | ADAR | c.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=) | |
1 | g.154584955G>T | CA342634754 | ADAR | c.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 |
1 | g.154584956T>A | CA421231502 | ADAR | c.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=) | |
1 | g.154584956T>C | CA1130924 | ADAR | c.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 |
1 | g.154584956T>G | CA421231503 | ADAR | c.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 |
1 | g.154584956T= | CA1144715468 | ADAR | c.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=) | |
1 | g.154584957A>C | CA342634756 | ADAR | c.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) | |
1 | g.154584957A>G | CA342634755 | ADAR | c.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) | |
1 | g.154584957A>T | CA342634757 | ADAR | c.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) | |
1 | g.154584958G>A | CA421231504 | ADAR | c.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 |
1 | g.154584958G>C | CA342634758 | ADAR | c.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) | |
1 | g.154584958G>T | CA342634759 | ADAR | c.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) | |
1 | g.154584959A>C | CA342634760 | ADAR | c.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) | |
1 | g.154584959A>G | CA421231505 | ADAR | c.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=) | |
1 | g.154584959A>T | CA342634761 | ADAR | c.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) | |
1 | g.154584960T>A | CA342634762 | ADAR | c.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) | |
1 | g.154584960T>C | CA342634763 | ADAR | c.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) | |
1 | g.154584960T>G | CA342634764 | ADAR | c.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) | |
1 | g.154584961C>A | CA342634765 | ADAR | c.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) | |
1 | g.154584961C= | CA2480931211 | ADAR | c.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=) | |
1 | g.154584961C>G | CA342634766 | ADAR | c.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) | |
1 | g.154584961C>T | CA342634767 | ADAR | c.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 |
1 | g.154584962C>A | CA342634769 | ADAR | c.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) | |
1 | g.154584962C= | CA2480931212 | ADAR | c.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=) | |
1 | g.154584962C>G | CA342634768 | ADAR | c.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) | |
1 | g.154584962C>T | CA1130925 | ADAR | c.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 |
1 | g.154584963C>A | CA342634770 | ADAR | c.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) | |
1 | g.154584963C>G | CA342634771 | ADAR | c.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) | |
1 | g.154584963C>T | CA342634772 | ADAR | c.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) | |
1 | g.154584964T>A | CA342634773 | ADAR | c.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) | |
1 | g.154584964T>C | CA342634774 | ADAR | c.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 |
1 | g.154584964T>G | CA1130926 | ADAR | c.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 |
1 | g.154584964T= | CA1142128040 | ADAR | c.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=) | |
1 | g.154584965G>A | CA421231511 | ADAR | c.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=) | |
1 | g.154584965G>C | CA421231512 | ADAR | c.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=) | |
1 | g.154584965G>T | CA421231510 | ADAR | c.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=) | |
1 | g.154584966C>A | CA30848656 | ADAR | c.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 |
1 | g.154584966C= | CA2480931213 | ADAR | c.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=) | |
1 | g.154584966C>G | CA342634775 | ADAR | c.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) | |
1 | g.154584966C>T | CA30848659 | ADAR | c.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 |
1 | g.154584967G>A | CA342634776 | ADAR | c.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 |
1 | g.154584967G>C | CA342634777 | ADAR | c.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 |
1 | g.154584967G= | CA2480931214 | ADAR | c.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=) | |
1 | g.154584967G>T | CA342634778 | ADAR | c.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) | |
1 | g.154584967_154584971delinsGGTAA | CA2480931215 | ADAR | c.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=) | |
1 | g.154584968G>A | CA1130927 | ADAR | c.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 |
1 | g.154584968G>C | CA342634780 | ADAR | c.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 |
1 | g.154584968G= | CA2480931217 | ADAR | c.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=) | |
1 | g.154584968G>T | CA342634779 | ADAR | c.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) | |
1 | g.154584968_154584971del | CA2480931216 | ADAR | c.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 |
1 | g.154584969T>A | CA342634781 | ADAR | c.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) | |
1 | g.154584969T>C | CA342634782 | ADAR | c.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 |
1 | g.154584969T>G | CA342634783 | ADAR | c.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) | |
1 | g.154584970A>C | CA342634784 | ADAR | c.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) | |
1 | g.154584970A>G | CA342634785 | ADAR | c.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) | |
1 | g.154584970A>T | CA342634786 | ADAR | c.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) | |
1 | g.154584971A>C | CA421231515 | ADAR | c.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=) | |
1 | g.154584971A>G | CA421231516 | ADAR | c.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=) | |
1 | g.154584971A>T | CA421231517 | ADAR | c.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=) | |
1 | g.154584972C>A | CA342634788 | ADAR | c.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) | |
1 | g.154584972C= | CA1148045304 | ADAR | c.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=) | |
1 | g.154584972C>G | CA342634787 | ADAR | c.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) | |
1 | g.154584972C>T | CA1130928 | ADAR | c.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 |
1 | g.154584972_154584973delinsCG | CA2480931218 | ADAR | c.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=) | |
1 | g.154584973G>A | CA1130929 | ADAR | c.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 |
1 | g.154584973G>C | CA342634789 | ADAR | c.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 |
1 | g.154584973G= | CA2480931219 | ADAR | c.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=) | |
1 | g.154584973G>T | CA342634790 | ADAR | c.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 |
1 | g.154584974dup | CA2586967336 | ADAR | c.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) | |
1 | g.154584974del | CA526666225 | ADAR | c.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 |
1 | g.154584974G>A | CA421231519 | ADAR | c.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 |
1 | g.154584974G>C | CA342634791 | ADAR | c.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) | |
1 | g.154584974G>T | CA342634792 | ADAR | c.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) | |
1 | g.154584975A>C | CA342634793 | ADAR | c.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) | |
1 | g.154584975A>G | CA342634795 | ADAR | c.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) | |
1 | g.154584975A>T | CA342634794 | ADAR | c.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) | |
1 | g.154584976A= | CA2480931220 | ADAR | c.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=) | |
1 | g.154584976A>C | CA342634796 | ADAR | c.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 |
1 | g.154584976A>G | CA342634797 | ADAR | c.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) | |
1 | g.154584976A>T | CA342634798 | ADAR | c.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) | |
1 | g.154584977G>A | CA421231521 | ADAR | c.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 |
1 | g.154584977G>C | CA421231523 | ADAR | c.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=) | |
1 | g.154584977G= | CA2480931221 | ADAR | c.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=) | |
1 | g.154584977G>T | CA421231522 | ADAR | c.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=) | |
1 | g.154584977_154584978insCC | CA2480931222 | ADAR | c.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 |
1 | g.154584978G>A | CA342634799 | ADAR | c.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 |
1 | g.154584978G>C | CA342634800 | ADAR | c.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) | |
1 | g.154584978G= | CA2480931223 | ADAR | c.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=) | |
1 | g.154584978G>T | CA342634801 | ADAR | c.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) | |
1 | g.154584979A= | CA2480931224 | ADAR | c.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=) | |
1 | g.154584979A>C | CA342634802 | ADAR | c.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) | |
1 | g.154584979A>G | CA342634803 | ADAR | c.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 |
1 | g.154584979A>T | CA342634804 | ADAR | c.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) | |
1 | g.154584980G>A | CA421231524 | ADAR | c.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 |
1 | g.154584980G>C | CA342634805 | ADAR | c.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) | |
1 | g.154584980G= | CA2480931225 | ADAR | c.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=) | |
1 | g.154584980G>T | CA342634806 | ADAR | c.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 |
1 | g.154584981C>A | CA342634809 | ADAR | c.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) | |
1 | g.154584981C>G | CA342634808 | ADAR | c.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) | |
1 | g.154584981C>T | CA342634807 | ADAR | c.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) | |
1 | g.154584981dup | CA2648175743 | ADAR | c.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 |
1 | g.154584982A= | CA2480931226 | ADAR | c.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=) | |
1 | g.154584982A>C | CA342634810 | ADAR | c.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) | |
1 | g.154584982A>G | CA342634812 | ADAR | c.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 |
1 | g.154584982A>T | CA342634811 | ADAR | c.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) | |
1 | g.154584983G>A | CA421231528 | ADAR | c.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 |
1 | g.154584983G>C | CA1130930 | ADAR | c.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 |
1 | g.154584983G= | CA1147217067 | ADAR | c.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=) | |
1 | g.154584983G>T | CA421231529 | ADAR | c.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=) | |
1 | g.154584984A>C | CA342634813 | ADAR | c.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) | |
1 | g.154584984A>G | CA342634814 | ADAR | c.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) | |
1 | g.154584984A>T | CA342634815 | ADAR | c.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) | |
1 | g.154584985G>A | CA342634816 | ADAR | c.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) | |
1 | g.154584985G>C | CA342634817 | ADAR | c.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) | |
1 | g.154584985G>T | CA342634818 | ADAR | c.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) | |
1 | g.154584986C>A | CA342634819 | ADAR | c.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 |
1 | g.154584986C= | CA2480931227 | ADAR | c.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=) | |
1 | g.154584986C>G | CA342634820 | ADAR | c.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 |
1 | g.154584986C>T | CA421231531 | ADAR | c.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 |
1 | g.154584987T>A | CA342634821 | ADAR | c.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) | |
1 | g.154584987T>C | CA342634822 | ADAR | c.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) | |
1 | g.154584987T>G | CA342634823 | ADAR | c.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) | |
1 | g.154584988del | CA2586967337 | ADAR | c.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) | |
1 | g.154584988T>A | CA342634824 | ADAR | c.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) | |
1 | g.154584988T>C | CA342634826 | ADAR | c.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) | |
1 | g.154584988T>G | CA342634825 | ADAR | c.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 |
1 | g.154584988T= | CA2480931228 | ADAR | c.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=) | |
1 | g.154584989C>A | CA342634827 | ADAR | c.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) | |
1 | g.154584989C>G | CA342634828 | ADAR | c.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) | |
1 | g.154584989C>T | CA421231534 | ADAR | c.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=) | |
1 | g.154584990T>A | CA342634829 | ADAR | c.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) | |
1 | g.154584990T>C | CA342634830 | ADAR | c.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) | |
1 | g.154584990T>G | CA342634831 | ADAR | c.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) | |
1 | g.154584991T>A | CA342634832 | ADAR | c.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) | |
1 | g.154584991T>C | CA342634833 | ADAR | c.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) | |
1 | g.154584991T>G | CA342634834 | ADAR | c.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) | |
1 | g.154584992A= | CA2480931229 | ADAR | c.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=) | |
1 | g.154584992A>C | CA342634835 | ADAR | c.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) | |
1 | g.154584992A>G | CA30848666 | ADAR | c.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 |
1 | g.154584992A>T | CA342634836 | ADAR | c.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) | |
1 | g.154584993A= | CA1140495917 | ADAR | c.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=) | |
1 | g.154584993A>C | CA342634838 | ADAR | c.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) | |
1 | g.154584993A>G | CA124351 | ADAR | c.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 |
1 | g.154584993A>T | CA342634837 | ADAR | c.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) |