| 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 |