Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39727727T>A | CA399312898 | ERBB2 | c.3451T>A (p.Ser1151Thr) c.3361T>A (p.Ser1121Thr) c.2623T>A (p.Ser875Thr) c.3406T>A (p.Ser1136Thr) c.*3241T>A (n.*3241T>A) c.*30T>A (n.*30T>A) n.3775T>A c.3589T>A (p.Ser1197Thr) c.3544T>A (p.Ser1182Thr) c.3499T>A (p.Ser1167Thr) c.3568T>A (p.Ser1190Thr) c.3553T>A (p.Ser1185Thr) c.3532T>A (p.Ser1178Thr) c.3526T>A (p.Ser1176Thr) c.3481T>A (p.Ser1161Thr) c.3472T>A (p.Ser1158Thr) c.3448T>A (p.Ser1150Thr) c.3442T>A (p.Ser1148Thr) c.3415T>A (p.Ser1139Thr) c.3409T>A (p.Ser1137Thr) c.3403T>A (p.Ser1135Thr) c.3364T>A (p.Ser1122Thr) c.3352T>A (p.Ser1118Thr) c.3295T>A (p.Ser1099Thr) c.3271T>A (p.Ser1091Thr) c.3265T>A (p.Ser1089Thr) c.3247T>A (p.Ser1083Thr) c.3193T>A (p.Ser1065Thr) c.2500T>A (p.Ser834Thr) c.2413T>A (p.Ser805Thr) n.3689T>A | dbSNP |
17 | g.39727727T>C | CA399312899 | ERBB2 | c.3451T>C (p.Ser1151Pro) c.3361T>C (p.Ser1121Pro) c.2623T>C (p.Ser875Pro) c.3406T>C (p.Ser1136Pro) c.*3241T>C (n.*3241T>C) c.*30T>C (n.*30T>C) n.3775T>C c.3589T>C (p.Ser1197Pro) c.3544T>C (p.Ser1182Pro) c.3499T>C (p.Ser1167Pro) c.3568T>C (p.Ser1190Pro) c.3553T>C (p.Ser1185Pro) c.3532T>C (p.Ser1178Pro) c.3526T>C (p.Ser1176Pro) c.3481T>C (p.Ser1161Pro) c.3472T>C (p.Ser1158Pro) c.3448T>C (p.Ser1150Pro) c.3442T>C (p.Ser1148Pro) c.3415T>C (p.Ser1139Pro) c.3409T>C (p.Ser1137Pro) c.3403T>C (p.Ser1135Pro) c.3364T>C (p.Ser1122Pro) c.3352T>C (p.Ser1118Pro) c.3295T>C (p.Ser1099Pro) c.3271T>C (p.Ser1091Pro) c.3265T>C (p.Ser1089Pro) c.3247T>C (p.Ser1083Pro) c.3193T>C (p.Ser1065Pro) c.2500T>C (p.Ser834Pro) c.2413T>C (p.Ser805Pro) n.3689T>C | dbSNP |
17 | g.39727727T>G | CA399312900 | ERBB2 | c.3451T>G (p.Ser1151Ala) c.3361T>G (p.Ser1121Ala) c.2623T>G (p.Ser875Ala) c.3406T>G (p.Ser1136Ala) c.*3241T>G (n.*3241T>G) c.*30T>G (n.*30T>G) n.3775T>G c.3589T>G (p.Ser1197Ala) c.3544T>G (p.Ser1182Ala) c.3499T>G (p.Ser1167Ala) c.3568T>G (p.Ser1190Ala) c.3553T>G (p.Ser1185Ala) c.3532T>G (p.Ser1178Ala) c.3526T>G (p.Ser1176Ala) c.3481T>G (p.Ser1161Ala) c.3472T>G (p.Ser1158Ala) c.3448T>G (p.Ser1150Ala) c.3442T>G (p.Ser1148Ala) c.3415T>G (p.Ser1139Ala) c.3409T>G (p.Ser1137Ala) c.3403T>G (p.Ser1135Ala) c.3364T>G (p.Ser1122Ala) c.3352T>G (p.Ser1118Ala) c.3295T>G (p.Ser1099Ala) c.3271T>G (p.Ser1091Ala) c.3265T>G (p.Ser1089Ala) c.3247T>G (p.Ser1083Ala) c.3193T>G (p.Ser1065Ala) c.2500T>G (p.Ser834Ala) c.2413T>G (p.Ser805Ala) n.3689T>G | dbSNP |
17 | g.39727728C>A | CA399312901 | ERBB2 | c.3452C>A (p.Ser1151Ter) c.3362C>A (p.Ser1121Ter) c.2624C>A (p.Ser875Ter) c.3407C>A (p.Ser1136Ter) c.*3242C>A (n.*3242C>A) c.*31C>A (n.*31C>A) n.3776C>A c.3590C>A (p.Ser1197Ter) c.3545C>A (p.Ser1182Ter) c.3500C>A (p.Ser1167Ter) c.3569C>A (p.Ser1190Ter) c.3554C>A (p.Ser1185Ter) c.3533C>A (p.Ser1178Ter) c.3527C>A (p.Ser1176Ter) c.3482C>A (p.Ser1161Ter) c.3473C>A (p.Ser1158Ter) c.3449C>A (p.Ser1150Ter) c.3443C>A (p.Ser1148Ter) c.3416C>A (p.Ser1139Ter) c.3410C>A (p.Ser1137Ter) c.3404C>A (p.Ser1135Ter) c.3365C>A (p.Ser1122Ter) c.3353C>A (p.Ser1118Ter) c.3296C>A (p.Ser1099Ter) c.3272C>A (p.Ser1091Ter) c.3266C>A (p.Ser1089Ter) c.3248C>A (p.Ser1083Ter) c.3194C>A (p.Ser1065Ter) c.2501C>A (p.Ser834Ter) c.2414C>A (p.Ser805Ter) n.3690C>A | dbSNP |
17 | g.39727728C= | CA2259229233 | ERBB2 | c.3452C= (p.Ser1151=) c.3362C= (p.Ser1121=) c.2624C= (p.Ser875=) c.3407C= (p.Ser1136=) c.*3242C= (n.*3242C=) c.*31C= (n.*31C=) n.3776C= c.3590C= (p.Ser1197=) c.3545C= (p.Ser1182=) c.3500C= (p.Ser1167=) c.3569C= (p.Ser1190=) c.3554C= (p.Ser1185=) c.3533C= (p.Ser1178=) c.3527C= (p.Ser1176=) c.3482C= (p.Ser1161=) c.3473C= (p.Ser1158=) c.3449C= (p.Ser1150=) c.3443C= (p.Ser1148=) c.3416C= (p.Ser1139=) c.3410C= (p.Ser1137=) c.3404C= (p.Ser1135=) c.3365C= (p.Ser1122=) c.3353C= (p.Ser1118=) c.3296C= (p.Ser1099=) c.3272C= (p.Ser1091=) c.3266C= (p.Ser1089=) c.3248C= (p.Ser1083=) c.3194C= (p.Ser1065=) c.2501C= (p.Ser834=) c.2414C= (p.Ser805=) n.3690C= | |
17 | g.39727728C>G | CA399312902 | ERBB2 | c.3452C>G (p.Ser1151Trp) c.3362C>G (p.Ser1121Trp) c.2624C>G (p.Ser875Trp) c.3407C>G (p.Ser1136Trp) c.*3242C>G (n.*3242C>G) c.*31C>G (n.*31C>G) n.3776C>G c.3590C>G (p.Ser1197Trp) c.3545C>G (p.Ser1182Trp) c.3500C>G (p.Ser1167Trp) c.3569C>G (p.Ser1190Trp) c.3554C>G (p.Ser1185Trp) c.3533C>G (p.Ser1178Trp) c.3527C>G (p.Ser1176Trp) c.3482C>G (p.Ser1161Trp) c.3473C>G (p.Ser1158Trp) c.3449C>G (p.Ser1150Trp) c.3443C>G (p.Ser1148Trp) c.3416C>G (p.Ser1139Trp) c.3410C>G (p.Ser1137Trp) c.3404C>G (p.Ser1135Trp) c.3365C>G (p.Ser1122Trp) c.3353C>G (p.Ser1118Trp) c.3296C>G (p.Ser1099Trp) c.3272C>G (p.Ser1091Trp) c.3266C>G (p.Ser1089Trp) c.3248C>G (p.Ser1083Trp) c.3194C>G (p.Ser1065Trp) c.2501C>G (p.Ser834Trp) c.2414C>G (p.Ser805Trp) n.3690C>G | dbSNP |
17 | g.39727728C>T | CA399312903 | ERBB2 | c.3452C>T (p.Ser1151Leu) c.3362C>T (p.Ser1121Leu) c.2624C>T (p.Ser875Leu) c.3407C>T (p.Ser1136Leu) c.*3242C>T (n.*3242C>T) c.*31C>T (n.*31C>T) n.3776C>T c.3590C>T (p.Ser1197Leu) c.3545C>T (p.Ser1182Leu) c.3500C>T (p.Ser1167Leu) c.3569C>T (p.Ser1190Leu) c.3554C>T (p.Ser1185Leu) c.3533C>T (p.Ser1178Leu) c.3527C>T (p.Ser1176Leu) c.3482C>T (p.Ser1161Leu) c.3473C>T (p.Ser1158Leu) c.3449C>T (p.Ser1150Leu) c.3443C>T (p.Ser1148Leu) c.3416C>T (p.Ser1139Leu) c.3410C>T (p.Ser1137Leu) c.3404C>T (p.Ser1135Leu) c.3365C>T (p.Ser1122Leu) c.3353C>T (p.Ser1118Leu) c.3296C>T (p.Ser1099Leu) c.3272C>T (p.Ser1091Leu) c.3266C>T (p.Ser1089Leu) c.3248C>T (p.Ser1083Leu) c.3194C>T (p.Ser1065Leu) c.2501C>T (p.Ser834Leu) c.2414C>T (p.Ser805Leu) n.3690C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727729G>A | CA8534564 | ERBB2 | c.3453G>A (p.Ser1151=) c.3363G>A (p.Ser1121=) c.2625G>A (p.Ser875=) c.3408G>A (p.Ser1136=) c.*3243G>A (n.*3243G>A) c.*32G>A (n.*32G>A) n.3777G>A c.3591G>A (p.Ser1197=) c.3546G>A (p.Ser1182=) c.3501G>A (p.Ser1167=) c.3570G>A (p.Ser1190=) c.3555G>A (p.Ser1185=) c.3534G>A (p.Ser1178=) c.3528G>A (p.Ser1176=) c.3483G>A (p.Ser1161=) c.3474G>A (p.Ser1158=) c.3450G>A (p.Ser1150=) c.3444G>A (p.Ser1148=) c.3417G>A (p.Ser1139=) c.3411G>A (p.Ser1137=) c.3405G>A (p.Ser1135=) c.3366G>A (p.Ser1122=) c.3354G>A (p.Ser1118=) c.3297G>A (p.Ser1099=) c.3273G>A (p.Ser1091=) c.3267G>A (p.Ser1089=) c.3249G>A (p.Ser1083=) c.3195G>A (p.Ser1065=) c.2502G>A (p.Ser834=) c.2415G>A (p.Ser805=) n.3691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727729G>C | CA499890535 | ERBB2 | c.3453G>C (p.Ser1151=) c.3363G>C (p.Ser1121=) c.2625G>C (p.Ser875=) c.3408G>C (p.Ser1136=) c.*3243G>C (n.*3243G>C) c.*32G>C (n.*32G>C) n.3777G>C c.3591G>C (p.Ser1197=) c.3546G>C (p.Ser1182=) c.3501G>C (p.Ser1167=) c.3570G>C (p.Ser1190=) c.3555G>C (p.Ser1185=) c.3534G>C (p.Ser1178=) c.3528G>C (p.Ser1176=) c.3483G>C (p.Ser1161=) c.3474G>C (p.Ser1158=) c.3450G>C (p.Ser1150=) c.3444G>C (p.Ser1148=) c.3417G>C (p.Ser1139=) c.3411G>C (p.Ser1137=) c.3405G>C (p.Ser1135=) c.3366G>C (p.Ser1122=) c.3354G>C (p.Ser1118=) c.3297G>C (p.Ser1099=) c.3273G>C (p.Ser1091=) c.3267G>C (p.Ser1089=) c.3249G>C (p.Ser1083=) c.3195G>C (p.Ser1065=) c.2502G>C (p.Ser834=) c.2415G>C (p.Ser805=) n.3691G>C | dbSNP |
17 | g.39727729G= | CA2259229234 | ERBB2 | c.3453G= (p.Ser1151=) c.3363G= (p.Ser1121=) c.2625G= (p.Ser875=) c.3408G= (p.Ser1136=) c.*3243G= (n.*3243G=) c.*32G= (n.*32G=) n.3777G= c.3591G= (p.Ser1197=) c.3546G= (p.Ser1182=) c.3501G= (p.Ser1167=) c.3570G= (p.Ser1190=) c.3555G= (p.Ser1185=) c.3534G= (p.Ser1178=) c.3528G= (p.Ser1176=) c.3483G= (p.Ser1161=) c.3474G= (p.Ser1158=) c.3450G= (p.Ser1150=) c.3444G= (p.Ser1148=) c.3417G= (p.Ser1139=) c.3411G= (p.Ser1137=) c.3405G= (p.Ser1135=) c.3366G= (p.Ser1122=) c.3354G= (p.Ser1118=) c.3297G= (p.Ser1099=) c.3273G= (p.Ser1091=) c.3267G= (p.Ser1089=) c.3249G= (p.Ser1083=) c.3195G= (p.Ser1065=) c.2502G= (p.Ser834=) c.2415G= (p.Ser805=) n.3691G= | |
17 | g.39727729G>T | CA499890536 | ERBB2 | c.3453G>T (p.Ser1151=) c.3363G>T (p.Ser1121=) c.2625G>T (p.Ser875=) c.3408G>T (p.Ser1136=) c.*3243G>T (n.*3243G>T) c.*32G>T (n.*32G>T) n.3777G>T c.3591G>T (p.Ser1197=) c.3546G>T (p.Ser1182=) c.3501G>T (p.Ser1167=) c.3570G>T (p.Ser1190=) c.3555G>T (p.Ser1185=) c.3534G>T (p.Ser1178=) c.3528G>T (p.Ser1176=) c.3483G>T (p.Ser1161=) c.3474G>T (p.Ser1158=) c.3450G>T (p.Ser1150=) c.3444G>T (p.Ser1148=) c.3417G>T (p.Ser1139=) c.3411G>T (p.Ser1137=) c.3405G>T (p.Ser1135=) c.3366G>T (p.Ser1122=) c.3354G>T (p.Ser1118=) c.3297G>T (p.Ser1099=) c.3273G>T (p.Ser1091=) c.3267G>T (p.Ser1089=) c.3249G>T (p.Ser1083=) c.3195G>T (p.Ser1065=) c.2502G>T (p.Ser834=) c.2415G>T (p.Ser805=) n.3691G>T | dbSNP |
17 | g.39727730C>A | CA399312905 | ERBB2 | c.3454C>A (p.Pro1152Thr) c.3364C>A (p.Pro1122Thr) c.2626C>A (p.Pro876Thr) c.3409C>A (p.Pro1137Thr) c.*3244C>A (n.*3244C>A) c.*33C>A (n.*33C>A) n.3778C>A c.3592C>A (p.Pro1198Thr) c.3547C>A (p.Pro1183Thr) c.3502C>A (p.Pro1168Thr) c.3571C>A (p.Pro1191Thr) c.3556C>A (p.Pro1186Thr) c.3535C>A (p.Pro1179Thr) c.3529C>A (p.Pro1177Thr) c.3484C>A (p.Pro1162Thr) c.3475C>A (p.Pro1159Thr) c.3451C>A (p.Pro1151Thr) c.3445C>A (p.Pro1149Thr) c.3418C>A (p.Pro1140Thr) c.3412C>A (p.Pro1138Thr) c.3406C>A (p.Pro1136Thr) c.3367C>A (p.Pro1123Thr) c.3355C>A (p.Pro1119Thr) c.3298C>A (p.Pro1100Thr) c.3274C>A (p.Pro1092Thr) c.3268C>A (p.Pro1090Thr) c.3250C>A (p.Pro1084Thr) c.3196C>A (p.Pro1066Thr) c.2503C>A (p.Pro835Thr) c.2416C>A (p.Pro806Thr) n.3692C>A | dbSNP |
17 | g.39727730C>G | CA399312906 | ERBB2 | c.3454C>G (p.Pro1152Ala) c.3364C>G (p.Pro1122Ala) c.2626C>G (p.Pro876Ala) c.3409C>G (p.Pro1137Ala) c.*3244C>G (n.*3244C>G) c.*33C>G (n.*33C>G) n.3778C>G c.3592C>G (p.Pro1198Ala) c.3547C>G (p.Pro1183Ala) c.3502C>G (p.Pro1168Ala) c.3571C>G (p.Pro1191Ala) c.3556C>G (p.Pro1186Ala) c.3535C>G (p.Pro1179Ala) c.3529C>G (p.Pro1177Ala) c.3484C>G (p.Pro1162Ala) c.3475C>G (p.Pro1159Ala) c.3451C>G (p.Pro1151Ala) c.3445C>G (p.Pro1149Ala) c.3418C>G (p.Pro1140Ala) c.3412C>G (p.Pro1138Ala) c.3406C>G (p.Pro1136Ala) c.3367C>G (p.Pro1123Ala) c.3355C>G (p.Pro1119Ala) c.3298C>G (p.Pro1100Ala) c.3274C>G (p.Pro1092Ala) c.3268C>G (p.Pro1090Ala) c.3250C>G (p.Pro1084Ala) c.3196C>G (p.Pro1066Ala) c.2503C>G (p.Pro835Ala) c.2416C>G (p.Pro806Ala) n.3692C>G | dbSNP |
17 | g.39727730C>T | CA399312904 | ERBB2 | c.3454C>T (p.Pro1152Ser) c.3364C>T (p.Pro1122Ser) c.2626C>T (p.Pro876Ser) c.3409C>T (p.Pro1137Ser) c.*3244C>T (n.*3244C>T) c.*33C>T (n.*33C>T) n.3778C>T c.3592C>T (p.Pro1198Ser) c.3547C>T (p.Pro1183Ser) c.3502C>T (p.Pro1168Ser) c.3571C>T (p.Pro1191Ser) c.3556C>T (p.Pro1186Ser) c.3535C>T (p.Pro1179Ser) c.3529C>T (p.Pro1177Ser) c.3484C>T (p.Pro1162Ser) c.3475C>T (p.Pro1159Ser) c.3451C>T (p.Pro1151Ser) c.3445C>T (p.Pro1149Ser) c.3418C>T (p.Pro1140Ser) c.3412C>T (p.Pro1138Ser) c.3406C>T (p.Pro1136Ser) c.3367C>T (p.Pro1123Ser) c.3355C>T (p.Pro1119Ser) c.3298C>T (p.Pro1100Ser) c.3274C>T (p.Pro1092Ser) c.3268C>T (p.Pro1090Ser) c.3250C>T (p.Pro1084Ser) c.3196C>T (p.Pro1066Ser) c.2503C>T (p.Pro835Ser) c.2416C>T (p.Pro806Ser) n.3692C>T | dbSNP |
17 | g.39727731C>A | CA399312907 | ERBB2 | c.3455C>A (p.Pro1152His) c.3365C>A (p.Pro1122His) c.2627C>A (p.Pro876His) c.3410C>A (p.Pro1137His) c.*3245C>A (n.*3245C>A) c.*34C>A (n.*34C>A) n.3779C>A c.3593C>A (p.Pro1198His) c.3548C>A (p.Pro1183His) c.3503C>A (p.Pro1168His) c.3572C>A (p.Pro1191His) c.3557C>A (p.Pro1186His) c.3536C>A (p.Pro1179His) c.3530C>A (p.Pro1177His) c.3485C>A (p.Pro1162His) c.3476C>A (p.Pro1159His) c.3452C>A (p.Pro1151His) c.3446C>A (p.Pro1149His) c.3419C>A (p.Pro1140His) c.3413C>A (p.Pro1138His) c.3407C>A (p.Pro1136His) c.3368C>A (p.Pro1123His) c.3356C>A (p.Pro1119His) c.3299C>A (p.Pro1100His) c.3275C>A (p.Pro1092His) c.3269C>A (p.Pro1090His) c.3251C>A (p.Pro1084His) c.3197C>A (p.Pro1066His) c.2504C>A (p.Pro835His) c.2417C>A (p.Pro806His) n.3693C>A | dbSNP gnomAD v4 |
17 | g.39727731C>G | CA399312908 | ERBB2 | c.3455C>G (p.Pro1152Arg) c.3365C>G (p.Pro1122Arg) c.2627C>G (p.Pro876Arg) c.3410C>G (p.Pro1137Arg) c.*3245C>G (n.*3245C>G) c.*34C>G (n.*34C>G) n.3779C>G c.3593C>G (p.Pro1198Arg) c.3548C>G (p.Pro1183Arg) c.3503C>G (p.Pro1168Arg) c.3572C>G (p.Pro1191Arg) c.3557C>G (p.Pro1186Arg) c.3536C>G (p.Pro1179Arg) c.3530C>G (p.Pro1177Arg) c.3485C>G (p.Pro1162Arg) c.3476C>G (p.Pro1159Arg) c.3452C>G (p.Pro1151Arg) c.3446C>G (p.Pro1149Arg) c.3419C>G (p.Pro1140Arg) c.3413C>G (p.Pro1138Arg) c.3407C>G (p.Pro1136Arg) c.3368C>G (p.Pro1123Arg) c.3356C>G (p.Pro1119Arg) c.3299C>G (p.Pro1100Arg) c.3275C>G (p.Pro1092Arg) c.3269C>G (p.Pro1090Arg) c.3251C>G (p.Pro1084Arg) c.3197C>G (p.Pro1066Arg) c.2504C>G (p.Pro835Arg) c.2417C>G (p.Pro806Arg) n.3693C>G | dbSNP |
17 | g.39727731C>T | CA399312909 | ERBB2 | c.3455C>T (p.Pro1152Leu) c.3365C>T (p.Pro1122Leu) c.2627C>T (p.Pro876Leu) c.3410C>T (p.Pro1137Leu) c.*3245C>T (n.*3245C>T) c.*34C>T (n.*34C>T) n.3779C>T c.3593C>T (p.Pro1198Leu) c.3548C>T (p.Pro1183Leu) c.3503C>T (p.Pro1168Leu) c.3572C>T (p.Pro1191Leu) c.3557C>T (p.Pro1186Leu) c.3536C>T (p.Pro1179Leu) c.3530C>T (p.Pro1177Leu) c.3485C>T (p.Pro1162Leu) c.3476C>T (p.Pro1159Leu) c.3452C>T (p.Pro1151Leu) c.3446C>T (p.Pro1149Leu) c.3419C>T (p.Pro1140Leu) c.3413C>T (p.Pro1138Leu) c.3407C>T (p.Pro1136Leu) c.3368C>T (p.Pro1123Leu) c.3356C>T (p.Pro1119Leu) c.3299C>T (p.Pro1100Leu) c.3275C>T (p.Pro1092Leu) c.3269C>T (p.Pro1090Leu) c.3251C>T (p.Pro1084Leu) c.3197C>T (p.Pro1066Leu) c.2504C>T (p.Pro835Leu) c.2417C>T (p.Pro806Leu) n.3693C>T | dbSNP |
17 | g.39727732C>A | CA499890541 | ERBB2 | c.3456C>A (p.Pro1152=) c.3366C>A (p.Pro1122=) c.2628C>A (p.Pro876=) c.3411C>A (p.Pro1137=) c.*3246C>A (n.*3246C>A) c.*35C>A (n.*35C>A) n.3780C>A c.3594C>A (p.Pro1198=) c.3549C>A (p.Pro1183=) c.3504C>A (p.Pro1168=) c.3573C>A (p.Pro1191=) c.3558C>A (p.Pro1186=) c.3537C>A (p.Pro1179=) c.3531C>A (p.Pro1177=) c.3486C>A (p.Pro1162=) c.3477C>A (p.Pro1159=) c.3453C>A (p.Pro1151=) c.3447C>A (p.Pro1149=) c.3420C>A (p.Pro1140=) c.3414C>A (p.Pro1138=) c.3408C>A (p.Pro1136=) c.3369C>A (p.Pro1123=) c.3357C>A (p.Pro1119=) c.3300C>A (p.Pro1100=) c.3276C>A (p.Pro1092=) c.3270C>A (p.Pro1090=) c.3252C>A (p.Pro1084=) c.3198C>A (p.Pro1066=) c.2505C>A (p.Pro835=) c.2418C>A (p.Pro806=) n.3694C>A | dbSNP |
17 | g.39727732C= | CA2259229235 | ERBB2 | c.3456C= (p.Pro1152=) c.3366C= (p.Pro1122=) c.2628C= (p.Pro876=) c.3411C= (p.Pro1137=) c.*3246C= (n.*3246C=) c.*35C= (n.*35C=) n.3780C= c.3594C= (p.Pro1198=) c.3549C= (p.Pro1183=) c.3504C= (p.Pro1168=) c.3573C= (p.Pro1191=) c.3558C= (p.Pro1186=) c.3537C= (p.Pro1179=) c.3531C= (p.Pro1177=) c.3486C= (p.Pro1162=) c.3477C= (p.Pro1159=) c.3453C= (p.Pro1151=) c.3447C= (p.Pro1149=) c.3420C= (p.Pro1140=) c.3414C= (p.Pro1138=) c.3408C= (p.Pro1136=) c.3369C= (p.Pro1123=) c.3357C= (p.Pro1119=) c.3300C= (p.Pro1100=) c.3276C= (p.Pro1092=) c.3270C= (p.Pro1090=) c.3252C= (p.Pro1084=) c.3198C= (p.Pro1066=) c.2505C= (p.Pro835=) c.2418C= (p.Pro806=) n.3694C= | |
17 | g.39727732C>G | CA499890542 | ERBB2 | c.3456C>G (p.Pro1152=) c.3366C>G (p.Pro1122=) c.2628C>G (p.Pro876=) c.3411C>G (p.Pro1137=) c.*3246C>G (n.*3246C>G) c.*35C>G (n.*35C>G) n.3780C>G c.3594C>G (p.Pro1198=) c.3549C>G (p.Pro1183=) c.3504C>G (p.Pro1168=) c.3573C>G (p.Pro1191=) c.3558C>G (p.Pro1186=) c.3537C>G (p.Pro1179=) c.3531C>G (p.Pro1177=) c.3486C>G (p.Pro1162=) c.3477C>G (p.Pro1159=) c.3453C>G (p.Pro1151=) c.3447C>G (p.Pro1149=) c.3420C>G (p.Pro1140=) c.3414C>G (p.Pro1138=) c.3408C>G (p.Pro1136=) c.3369C>G (p.Pro1123=) c.3357C>G (p.Pro1119=) c.3300C>G (p.Pro1100=) c.3276C>G (p.Pro1092=) c.3270C>G (p.Pro1090=) c.3252C>G (p.Pro1084=) c.3198C>G (p.Pro1066=) c.2505C>G (p.Pro835=) c.2418C>G (p.Pro806=) n.3694C>G | dbSNP gnomAD v4 |
17 | g.39727732C>T | CA8534565 | ERBB2 | c.3456C>T (p.Pro1152=) c.3366C>T (p.Pro1122=) c.2628C>T (p.Pro876=) c.3411C>T (p.Pro1137=) c.*3246C>T (n.*3246C>T) c.*35C>T (n.*35C>T) n.3780C>T c.3594C>T (p.Pro1198=) c.3549C>T (p.Pro1183=) c.3504C>T (p.Pro1168=) c.3573C>T (p.Pro1191=) c.3558C>T (p.Pro1186=) c.3537C>T (p.Pro1179=) c.3531C>T (p.Pro1177=) c.3486C>T (p.Pro1162=) c.3477C>T (p.Pro1159=) c.3453C>T (p.Pro1151=) c.3447C>T (p.Pro1149=) c.3420C>T (p.Pro1140=) c.3414C>T (p.Pro1138=) c.3408C>T (p.Pro1136=) c.3369C>T (p.Pro1123=) c.3357C>T (p.Pro1119=) c.3300C>T (p.Pro1100=) c.3276C>T (p.Pro1092=) c.3270C>T (p.Pro1090=) c.3252C>T (p.Pro1084=) c.3198C>T (p.Pro1066=) c.2505C>T (p.Pro835=) c.2418C>T (p.Pro806=) n.3694C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727733C>A | CA499890547 | ERBB2 | c.3457C>A (p.Arg1153=) c.3367C>A (p.Arg1123=) c.2629C>A (p.Arg877=) c.3412C>A (p.Arg1138=) c.*3247C>A (n.*3247C>A) c.*36C>A (n.*36C>A) n.3781C>A c.3595C>A (p.Arg1199=) c.3550C>A (p.Arg1184=) c.3505C>A (p.Arg1169=) c.3574C>A (p.Arg1192=) c.3559C>A (p.Arg1187=) c.3538C>A (p.Arg1180=) c.3532C>A (p.Arg1178=) c.3487C>A (p.Arg1163=) c.3478C>A (p.Arg1160=) c.3454C>A (p.Arg1152=) c.3448C>A (p.Arg1150=) c.3421C>A (p.Arg1141=) c.3415C>A (p.Arg1139=) c.3409C>A (p.Arg1137=) c.3370C>A (p.Arg1124=) c.3358C>A (p.Arg1120=) c.3301C>A (p.Arg1101=) c.3277C>A (p.Arg1093=) c.3271C>A (p.Arg1091=) c.3253C>A (p.Arg1085=) c.3199C>A (p.Arg1067=) c.2506C>A (p.Arg836=) c.2419C>A (p.Arg807=) n.3695C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727733C= | CA2259229236 | ERBB2 | c.3457C= (p.Arg1153=) c.3367C= (p.Arg1123=) c.2629C= (p.Arg877=) c.3412C= (p.Arg1138=) c.*3247C= (n.*3247C=) c.*36C= (n.*36C=) n.3781C= c.3595C= (p.Arg1199=) c.3550C= (p.Arg1184=) c.3505C= (p.Arg1169=) c.3574C= (p.Arg1192=) c.3559C= (p.Arg1187=) c.3538C= (p.Arg1180=) c.3532C= (p.Arg1178=) c.3487C= (p.Arg1163=) c.3478C= (p.Arg1160=) c.3454C= (p.Arg1152=) c.3448C= (p.Arg1150=) c.3421C= (p.Arg1141=) c.3415C= (p.Arg1139=) c.3409C= (p.Arg1137=) c.3370C= (p.Arg1124=) c.3358C= (p.Arg1120=) c.3301C= (p.Arg1101=) c.3277C= (p.Arg1093=) c.3271C= (p.Arg1091=) c.3253C= (p.Arg1085=) c.3199C= (p.Arg1067=) c.2506C= (p.Arg836=) c.2419C= (p.Arg807=) n.3695C= | |
17 | g.39727733C>G | CA399312910 | ERBB2 | c.3457C>G (p.Arg1153Gly) c.3367C>G (p.Arg1123Gly) c.2629C>G (p.Arg877Gly) c.3412C>G (p.Arg1138Gly) c.*3247C>G (n.*3247C>G) c.*36C>G (n.*36C>G) n.3781C>G c.3595C>G (p.Arg1199Gly) c.3550C>G (p.Arg1184Gly) c.3505C>G (p.Arg1169Gly) c.3574C>G (p.Arg1192Gly) c.3559C>G (p.Arg1187Gly) c.3538C>G (p.Arg1180Gly) c.3532C>G (p.Arg1178Gly) c.3487C>G (p.Arg1163Gly) c.3478C>G (p.Arg1160Gly) c.3454C>G (p.Arg1152Gly) c.3448C>G (p.Arg1150Gly) c.3421C>G (p.Arg1141Gly) c.3415C>G (p.Arg1139Gly) c.3409C>G (p.Arg1137Gly) c.3370C>G (p.Arg1124Gly) c.3358C>G (p.Arg1120Gly) c.3301C>G (p.Arg1101Gly) c.3277C>G (p.Arg1093Gly) c.3271C>G (p.Arg1091Gly) c.3253C>G (p.Arg1085Gly) c.3199C>G (p.Arg1067Gly) c.2506C>G (p.Arg836Gly) c.2419C>G (p.Arg807Gly) n.3695C>G | dbSNP |
17 | g.39727733C>T | CA399312911 | ERBB2 | c.3457C>T (p.Arg1153Ter) c.3367C>T (p.Arg1123Ter) c.2629C>T (p.Arg877Ter) c.3412C>T (p.Arg1138Ter) c.*3247C>T (n.*3247C>T) c.*36C>T (n.*36C>T) n.3781C>T c.3595C>T (p.Arg1199Ter) c.3550C>T (p.Arg1184Ter) c.3505C>T (p.Arg1169Ter) c.3574C>T (p.Arg1192Ter) c.3559C>T (p.Arg1187Ter) c.3538C>T (p.Arg1180Ter) c.3532C>T (p.Arg1178Ter) c.3487C>T (p.Arg1163Ter) c.3478C>T (p.Arg1160Ter) c.3454C>T (p.Arg1152Ter) c.3448C>T (p.Arg1150Ter) c.3421C>T (p.Arg1141Ter) c.3415C>T (p.Arg1139Ter) c.3409C>T (p.Arg1137Ter) c.3370C>T (p.Arg1124Ter) c.3358C>T (p.Arg1120Ter) c.3301C>T (p.Arg1101Ter) c.3277C>T (p.Arg1093Ter) c.3271C>T (p.Arg1091Ter) c.3253C>T (p.Arg1085Ter) c.3199C>T (p.Arg1067Ter) c.2506C>T (p.Arg836Ter) c.2419C>T (p.Arg807Ter) n.3695C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727734G>A | CA8534566 | ERBB2 | c.3458G>A (p.Arg1153Gln) c.3368G>A (p.Arg1123Gln) c.2630G>A (p.Arg877Gln) c.3413G>A (p.Arg1138Gln) c.*3248G>A (n.*3248G>A) c.*37G>A (n.*37G>A) n.3782G>A c.3596G>A (p.Arg1199Gln) c.3551G>A (p.Arg1184Gln) c.3506G>A (p.Arg1169Gln) c.3575G>A (p.Arg1192Gln) c.3560G>A (p.Arg1187Gln) c.3539G>A (p.Arg1180Gln) c.3533G>A (p.Arg1178Gln) c.3488G>A (p.Arg1163Gln) c.3479G>A (p.Arg1160Gln) c.3455G>A (p.Arg1152Gln) c.3449G>A (p.Arg1150Gln) c.3422G>A (p.Arg1141Gln) c.3416G>A (p.Arg1139Gln) c.3410G>A (p.Arg1137Gln) c.3371G>A (p.Arg1124Gln) c.3359G>A (p.Arg1120Gln) c.3302G>A (p.Arg1101Gln) c.3278G>A (p.Arg1093Gln) c.3272G>A (p.Arg1091Gln) c.3254G>A (p.Arg1085Gln) c.3200G>A (p.Arg1067Gln) c.2507G>A (p.Arg836Gln) c.2420G>A (p.Arg807Gln) n.3696G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727734G>C | CA399312912 | ERBB2 | c.3458G>C (p.Arg1153Pro) c.3368G>C (p.Arg1123Pro) c.2630G>C (p.Arg877Pro) c.3413G>C (p.Arg1138Pro) c.*3248G>C (n.*3248G>C) c.*37G>C (n.*37G>C) n.3782G>C c.3596G>C (p.Arg1199Pro) c.3551G>C (p.Arg1184Pro) c.3506G>C (p.Arg1169Pro) c.3575G>C (p.Arg1192Pro) c.3560G>C (p.Arg1187Pro) c.3539G>C (p.Arg1180Pro) c.3533G>C (p.Arg1178Pro) c.3488G>C (p.Arg1163Pro) c.3479G>C (p.Arg1160Pro) c.3455G>C (p.Arg1152Pro) c.3449G>C (p.Arg1150Pro) c.3422G>C (p.Arg1141Pro) c.3416G>C (p.Arg1139Pro) c.3410G>C (p.Arg1137Pro) c.3371G>C (p.Arg1124Pro) c.3359G>C (p.Arg1120Pro) c.3302G>C (p.Arg1101Pro) c.3278G>C (p.Arg1093Pro) c.3272G>C (p.Arg1091Pro) c.3254G>C (p.Arg1085Pro) c.3200G>C (p.Arg1067Pro) c.2507G>C (p.Arg836Pro) c.2420G>C (p.Arg807Pro) n.3696G>C | dbSNP |
17 | g.39727734G= | CA2259229237 | ERBB2 | c.3458G= (p.Arg1153=) c.3368G= (p.Arg1123=) c.2630G= (p.Arg877=) c.3413G= (p.Arg1138=) c.*3248G= (n.*3248G=) c.*37G= (n.*37G=) n.3782G= c.3596G= (p.Arg1199=) c.3551G= (p.Arg1184=) c.3506G= (p.Arg1169=) c.3575G= (p.Arg1192=) c.3560G= (p.Arg1187=) c.3539G= (p.Arg1180=) c.3533G= (p.Arg1178=) c.3488G= (p.Arg1163=) c.3479G= (p.Arg1160=) c.3455G= (p.Arg1152=) c.3449G= (p.Arg1150=) c.3422G= (p.Arg1141=) c.3416G= (p.Arg1139=) c.3410G= (p.Arg1137=) c.3371G= (p.Arg1124=) c.3359G= (p.Arg1120=) c.3302G= (p.Arg1101=) c.3278G= (p.Arg1093=) c.3272G= (p.Arg1091=) c.3254G= (p.Arg1085=) c.3200G= (p.Arg1067=) c.2507G= (p.Arg836=) c.2420G= (p.Arg807=) n.3696G= | |
17 | g.39727734G>T | CA399312913 | ERBB2 | c.3458G>T (p.Arg1153Leu) c.3368G>T (p.Arg1123Leu) c.2630G>T (p.Arg877Leu) c.3413G>T (p.Arg1138Leu) c.*3248G>T (n.*3248G>T) c.*37G>T (n.*37G>T) n.3782G>T c.3596G>T (p.Arg1199Leu) c.3551G>T (p.Arg1184Leu) c.3506G>T (p.Arg1169Leu) c.3575G>T (p.Arg1192Leu) c.3560G>T (p.Arg1187Leu) c.3539G>T (p.Arg1180Leu) c.3533G>T (p.Arg1178Leu) c.3488G>T (p.Arg1163Leu) c.3479G>T (p.Arg1160Leu) c.3455G>T (p.Arg1152Leu) c.3449G>T (p.Arg1150Leu) c.3422G>T (p.Arg1141Leu) c.3416G>T (p.Arg1139Leu) c.3410G>T (p.Arg1137Leu) c.3371G>T (p.Arg1124Leu) c.3359G>T (p.Arg1120Leu) c.3302G>T (p.Arg1101Leu) c.3278G>T (p.Arg1093Leu) c.3272G>T (p.Arg1091Leu) c.3254G>T (p.Arg1085Leu) c.3200G>T (p.Arg1067Leu) c.2507G>T (p.Arg836Leu) c.2420G>T (p.Arg807Leu) n.3696G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727735A= | CA2259229238 | ERBB2 | c.3459A= (p.Arg1153=) c.3369A= (p.Arg1123=) c.2631A= (p.Arg877=) c.3414A= (p.Arg1138=) c.*3249A= (n.*3249A=) c.*38A= (n.*38A=) n.3783A= c.3597A= (p.Arg1199=) c.3552A= (p.Arg1184=) c.3507A= (p.Arg1169=) c.3576A= (p.Arg1192=) c.3561A= (p.Arg1187=) c.3540A= (p.Arg1180=) c.3534A= (p.Arg1178=) c.3489A= (p.Arg1163=) c.3480A= (p.Arg1160=) c.3456A= (p.Arg1152=) c.3450A= (p.Arg1150=) c.3423A= (p.Arg1141=) c.3417A= (p.Arg1139=) c.3411A= (p.Arg1137=) c.3372A= (p.Arg1124=) c.3360A= (p.Arg1120=) c.3303A= (p.Arg1101=) c.3279A= (p.Arg1093=) c.3273A= (p.Arg1091=) c.3255A= (p.Arg1085=) c.3201A= (p.Arg1067=) c.2508A= (p.Arg836=) c.2421A= (p.Arg807=) n.3697A= | |
17 | g.39727735A>C | CA8534567 | ERBB2 | c.3459A>C (p.Arg1153=) c.3369A>C (p.Arg1123=) c.2631A>C (p.Arg877=) c.3414A>C (p.Arg1138=) c.*3249A>C (n.*3249A>C) c.*38A>C (n.*38A>C) n.3783A>C c.3597A>C (p.Arg1199=) c.3552A>C (p.Arg1184=) c.3507A>C (p.Arg1169=) c.3576A>C (p.Arg1192=) c.3561A>C (p.Arg1187=) c.3540A>C (p.Arg1180=) c.3534A>C (p.Arg1178=) c.3489A>C (p.Arg1163=) c.3480A>C (p.Arg1160=) c.3456A>C (p.Arg1152=) c.3450A>C (p.Arg1150=) c.3423A>C (p.Arg1141=) c.3417A>C (p.Arg1139=) c.3411A>C (p.Arg1137=) c.3372A>C (p.Arg1124=) c.3360A>C (p.Arg1120=) c.3303A>C (p.Arg1101=) c.3279A>C (p.Arg1093=) c.3273A>C (p.Arg1091=) c.3255A>C (p.Arg1085=) c.3201A>C (p.Arg1067=) c.2508A>C (p.Arg836=) c.2421A>C (p.Arg807=) n.3697A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727735A>G | CA499890550 | ERBB2 | c.3459A>G (p.Arg1153=) c.3369A>G (p.Arg1123=) c.2631A>G (p.Arg877=) c.3414A>G (p.Arg1138=) c.*3249A>G (n.*3249A>G) c.*38A>G (n.*38A>G) n.3783A>G c.3597A>G (p.Arg1199=) c.3552A>G (p.Arg1184=) c.3507A>G (p.Arg1169=) c.3576A>G (p.Arg1192=) c.3561A>G (p.Arg1187=) c.3540A>G (p.Arg1180=) c.3534A>G (p.Arg1178=) c.3489A>G (p.Arg1163=) c.3480A>G (p.Arg1160=) c.3456A>G (p.Arg1152=) c.3450A>G (p.Arg1150=) c.3423A>G (p.Arg1141=) c.3417A>G (p.Arg1139=) c.3411A>G (p.Arg1137=) c.3372A>G (p.Arg1124=) c.3360A>G (p.Arg1120=) c.3303A>G (p.Arg1101=) c.3279A>G (p.Arg1093=) c.3273A>G (p.Arg1091=) c.3255A>G (p.Arg1085=) c.3201A>G (p.Arg1067=) c.2508A>G (p.Arg836=) c.2421A>G (p.Arg807=) n.3697A>G | dbSNP gnomAD v4 |
17 | g.39727735A>T | CA499890552 | ERBB2 | c.3459A>T (p.Arg1153=) c.3369A>T (p.Arg1123=) c.2631A>T (p.Arg877=) c.3414A>T (p.Arg1138=) c.*3249A>T (n.*3249A>T) c.*38A>T (n.*38A>T) n.3783A>T c.3597A>T (p.Arg1199=) c.3552A>T (p.Arg1184=) c.3507A>T (p.Arg1169=) c.3576A>T (p.Arg1192=) c.3561A>T (p.Arg1187=) c.3540A>T (p.Arg1180=) c.3534A>T (p.Arg1178=) c.3489A>T (p.Arg1163=) c.3480A>T (p.Arg1160=) c.3456A>T (p.Arg1152=) c.3450A>T (p.Arg1150=) c.3423A>T (p.Arg1141=) c.3417A>T (p.Arg1139=) c.3411A>T (p.Arg1137=) c.3372A>T (p.Arg1124=) c.3360A>T (p.Arg1120=) c.3303A>T (p.Arg1101=) c.3279A>T (p.Arg1093=) c.3273A>T (p.Arg1091=) c.3255A>T (p.Arg1085=) c.3201A>T (p.Arg1067=) c.2508A>T (p.Arg836=) c.2421A>T (p.Arg807=) n.3697A>T | dbSNP |
17 | g.39727736G>A | CA399312914 | ERBB2 | c.3460G>A (p.Glu1154Lys) c.3370G>A (p.Glu1124Lys) c.2632G>A (p.Glu878Lys) c.3415G>A (p.Glu1139Lys) c.*3250G>A (n.*3250G>A) c.*39G>A (n.*39G>A) n.3784G>A c.3598G>A (p.Glu1200Lys) c.3553G>A (p.Glu1185Lys) c.3508G>A (p.Glu1170Lys) c.3577G>A (p.Glu1193Lys) c.3562G>A (p.Glu1188Lys) c.3541G>A (p.Glu1181Lys) c.3535G>A (p.Glu1179Lys) c.3490G>A (p.Glu1164Lys) c.3481G>A (p.Glu1161Lys) c.3457G>A (p.Glu1153Lys) c.3451G>A (p.Glu1151Lys) c.3424G>A (p.Glu1142Lys) c.3418G>A (p.Glu1140Lys) c.3412G>A (p.Glu1138Lys) c.3373G>A (p.Glu1125Lys) c.3361G>A (p.Glu1121Lys) c.3304G>A (p.Glu1102Lys) c.3280G>A (p.Glu1094Lys) c.3274G>A (p.Glu1092Lys) c.3256G>A (p.Glu1086Lys) c.3202G>A (p.Glu1068Lys) c.2509G>A (p.Glu837Lys) c.2422G>A (p.Glu808Lys) n.3698G>A | dbSNP |
17 | g.39727736G>C | CA399312915 | ERBB2 | c.3460G>C (p.Glu1154Gln) c.3370G>C (p.Glu1124Gln) c.2632G>C (p.Glu878Gln) c.3415G>C (p.Glu1139Gln) c.*3250G>C (n.*3250G>C) c.*39G>C (n.*39G>C) n.3784G>C c.3598G>C (p.Glu1200Gln) c.3553G>C (p.Glu1185Gln) c.3508G>C (p.Glu1170Gln) c.3577G>C (p.Glu1193Gln) c.3562G>C (p.Glu1188Gln) c.3541G>C (p.Glu1181Gln) c.3535G>C (p.Glu1179Gln) c.3490G>C (p.Glu1164Gln) c.3481G>C (p.Glu1161Gln) c.3457G>C (p.Glu1153Gln) c.3451G>C (p.Glu1151Gln) c.3424G>C (p.Glu1142Gln) c.3418G>C (p.Glu1140Gln) c.3412G>C (p.Glu1138Gln) c.3373G>C (p.Glu1125Gln) c.3361G>C (p.Glu1121Gln) c.3304G>C (p.Glu1102Gln) c.3280G>C (p.Glu1094Gln) c.3274G>C (p.Glu1092Gln) c.3256G>C (p.Glu1086Gln) c.3202G>C (p.Glu1068Gln) c.2509G>C (p.Glu837Gln) c.2422G>C (p.Glu808Gln) n.3698G>C | dbSNP |
17 | g.39727736G>T | CA399312916 | ERBB2 | c.3460G>T (p.Glu1154Ter) c.3370G>T (p.Glu1124Ter) c.2632G>T (p.Glu878Ter) c.3415G>T (p.Glu1139Ter) c.*3250G>T (n.*3250G>T) c.*39G>T (n.*39G>T) n.3784G>T c.3598G>T (p.Glu1200Ter) c.3553G>T (p.Glu1185Ter) c.3508G>T (p.Glu1170Ter) c.3577G>T (p.Glu1193Ter) c.3562G>T (p.Glu1188Ter) c.3541G>T (p.Glu1181Ter) c.3535G>T (p.Glu1179Ter) c.3490G>T (p.Glu1164Ter) c.3481G>T (p.Glu1161Ter) c.3457G>T (p.Glu1153Ter) c.3451G>T (p.Glu1151Ter) c.3424G>T (p.Glu1142Ter) c.3418G>T (p.Glu1140Ter) c.3412G>T (p.Glu1138Ter) c.3373G>T (p.Glu1125Ter) c.3361G>T (p.Glu1121Ter) c.3304G>T (p.Glu1102Ter) c.3280G>T (p.Glu1094Ter) c.3274G>T (p.Glu1092Ter) c.3256G>T (p.Glu1086Ter) c.3202G>T (p.Glu1068Ter) c.2509G>T (p.Glu837Ter) c.2422G>T (p.Glu808Ter) n.3698G>T | dbSNP |
17 | g.39727737A>C | CA399312919 | ERBB2 | c.3461A>C (p.Glu1154Ala) c.3371A>C (p.Glu1124Ala) c.2633A>C (p.Glu878Ala) c.3416A>C (p.Glu1139Ala) c.*3251A>C (n.*3251A>C) c.*40A>C (n.*40A>C) n.3785A>C c.3599A>C (p.Glu1200Ala) c.3554A>C (p.Glu1185Ala) c.3509A>C (p.Glu1170Ala) c.3578A>C (p.Glu1193Ala) c.3563A>C (p.Glu1188Ala) c.3542A>C (p.Glu1181Ala) c.3536A>C (p.Glu1179Ala) c.3491A>C (p.Glu1164Ala) c.3482A>C (p.Glu1161Ala) c.3458A>C (p.Glu1153Ala) c.3452A>C (p.Glu1151Ala) c.3425A>C (p.Glu1142Ala) c.3419A>C (p.Glu1140Ala) c.3413A>C (p.Glu1138Ala) c.3374A>C (p.Glu1125Ala) c.3362A>C (p.Glu1121Ala) c.3305A>C (p.Glu1102Ala) c.3281A>C (p.Glu1094Ala) c.3275A>C (p.Glu1092Ala) c.3257A>C (p.Glu1086Ala) c.3203A>C (p.Glu1068Ala) c.2510A>C (p.Glu837Ala) c.2423A>C (p.Glu808Ala) n.3699A>C | dbSNP |
17 | g.39727737A>G | CA399312918 | ERBB2 | c.3461A>G (p.Glu1154Gly) c.3371A>G (p.Glu1124Gly) c.2633A>G (p.Glu878Gly) c.3416A>G (p.Glu1139Gly) c.*3251A>G (n.*3251A>G) c.*40A>G (n.*40A>G) n.3785A>G c.3599A>G (p.Glu1200Gly) c.3554A>G (p.Glu1185Gly) c.3509A>G (p.Glu1170Gly) c.3578A>G (p.Glu1193Gly) c.3563A>G (p.Glu1188Gly) c.3542A>G (p.Glu1181Gly) c.3536A>G (p.Glu1179Gly) c.3491A>G (p.Glu1164Gly) c.3482A>G (p.Glu1161Gly) c.3458A>G (p.Glu1153Gly) c.3452A>G (p.Glu1151Gly) c.3425A>G (p.Glu1142Gly) c.3419A>G (p.Glu1140Gly) c.3413A>G (p.Glu1138Gly) c.3374A>G (p.Glu1125Gly) c.3362A>G (p.Glu1121Gly) c.3305A>G (p.Glu1102Gly) c.3281A>G (p.Glu1094Gly) c.3275A>G (p.Glu1092Gly) c.3257A>G (p.Glu1086Gly) c.3203A>G (p.Glu1068Gly) c.2510A>G (p.Glu837Gly) c.2423A>G (p.Glu808Gly) n.3699A>G | dbSNP |
17 | g.39727737A>T | CA399312917 | ERBB2 | c.3461A>T (p.Glu1154Val) c.3371A>T (p.Glu1124Val) c.2633A>T (p.Glu878Val) c.3416A>T (p.Glu1139Val) c.*3251A>T (n.*3251A>T) c.*40A>T (n.*40A>T) n.3785A>T c.3599A>T (p.Glu1200Val) c.3554A>T (p.Glu1185Val) c.3509A>T (p.Glu1170Val) c.3578A>T (p.Glu1193Val) c.3563A>T (p.Glu1188Val) c.3542A>T (p.Glu1181Val) c.3536A>T (p.Glu1179Val) c.3491A>T (p.Glu1164Val) c.3482A>T (p.Glu1161Val) c.3458A>T (p.Glu1153Val) c.3452A>T (p.Glu1151Val) c.3425A>T (p.Glu1142Val) c.3419A>T (p.Glu1140Val) c.3413A>T (p.Glu1138Val) c.3374A>T (p.Glu1125Val) c.3362A>T (p.Glu1121Val) c.3305A>T (p.Glu1102Val) c.3281A>T (p.Glu1094Val) c.3275A>T (p.Glu1092Val) c.3257A>T (p.Glu1086Val) c.3203A>T (p.Glu1068Val) c.2510A>T (p.Glu837Val) c.2423A>T (p.Glu808Val) n.3699A>T | dbSNP |
17 | g.39727738G>A | CA499890556 | ERBB2 | c.3462G>A (p.Glu1154=) c.3372G>A (p.Glu1124=) c.2634G>A (p.Glu878=) c.3417G>A (p.Glu1139=) c.*3252G>A (n.*3252G>A) c.*41G>A (n.*41G>A) n.3786G>A c.3600G>A (p.Glu1200=) c.3555G>A (p.Glu1185=) c.3510G>A (p.Glu1170=) c.3579G>A (p.Glu1193=) c.3564G>A (p.Glu1188=) c.3543G>A (p.Glu1181=) c.3537G>A (p.Glu1179=) c.3492G>A (p.Glu1164=) c.3483G>A (p.Glu1161=) c.3459G>A (p.Glu1153=) c.3453G>A (p.Glu1151=) c.3426G>A (p.Glu1142=) c.3420G>A (p.Glu1140=) c.3414G>A (p.Glu1138=) c.3375G>A (p.Glu1125=) c.3363G>A (p.Glu1121=) c.3306G>A (p.Glu1102=) c.3282G>A (p.Glu1094=) c.3276G>A (p.Glu1092=) c.3258G>A (p.Glu1086=) c.3204G>A (p.Glu1068=) c.2511G>A (p.Glu837=) c.2424G>A (p.Glu808=) n.3700G>A | dbSNP |
17 | g.39727738G>C | CA399312921 | ERBB2 | c.3462G>C (p.Glu1154Asp) c.3372G>C (p.Glu1124Asp) c.2634G>C (p.Glu878Asp) c.3417G>C (p.Glu1139Asp) c.*3252G>C (n.*3252G>C) c.*41G>C (n.*41G>C) n.3786G>C c.3600G>C (p.Glu1200Asp) c.3555G>C (p.Glu1185Asp) c.3510G>C (p.Glu1170Asp) c.3579G>C (p.Glu1193Asp) c.3564G>C (p.Glu1188Asp) c.3543G>C (p.Glu1181Asp) c.3537G>C (p.Glu1179Asp) c.3492G>C (p.Glu1164Asp) c.3483G>C (p.Glu1161Asp) c.3459G>C (p.Glu1153Asp) c.3453G>C (p.Glu1151Asp) c.3426G>C (p.Glu1142Asp) c.3420G>C (p.Glu1140Asp) c.3414G>C (p.Glu1138Asp) c.3375G>C (p.Glu1125Asp) c.3363G>C (p.Glu1121Asp) c.3306G>C (p.Glu1102Asp) c.3282G>C (p.Glu1094Asp) c.3276G>C (p.Glu1092Asp) c.3258G>C (p.Glu1086Asp) c.3204G>C (p.Glu1068Asp) c.2511G>C (p.Glu837Asp) c.2424G>C (p.Glu808Asp) n.3700G>C | dbSNP |
17 | g.39727738G>T | CA399312922 | ERBB2 | c.3462G>T (p.Glu1154Asp) c.3372G>T (p.Glu1124Asp) c.2634G>T (p.Glu878Asp) c.3417G>T (p.Glu1139Asp) c.*3252G>T (n.*3252G>T) c.*41G>T (n.*41G>T) n.3786G>T c.3600G>T (p.Glu1200Asp) c.3555G>T (p.Glu1185Asp) c.3510G>T (p.Glu1170Asp) c.3579G>T (p.Glu1193Asp) c.3564G>T (p.Glu1188Asp) c.3543G>T (p.Glu1181Asp) c.3537G>T (p.Glu1179Asp) c.3492G>T (p.Glu1164Asp) c.3483G>T (p.Glu1161Asp) c.3459G>T (p.Glu1153Asp) c.3453G>T (p.Glu1151Asp) c.3426G>T (p.Glu1142Asp) c.3420G>T (p.Glu1140Asp) c.3414G>T (p.Glu1138Asp) c.3375G>T (p.Glu1125Asp) c.3363G>T (p.Glu1121Asp) c.3306G>T (p.Glu1102Asp) c.3282G>T (p.Glu1094Asp) c.3276G>T (p.Glu1092Asp) c.3258G>T (p.Glu1086Asp) c.3204G>T (p.Glu1068Asp) c.2511G>T (p.Glu837Asp) c.2424G>T (p.Glu808Asp) n.3700G>T | dbSNP |
17 | g.39727739G>A | CA290443830 | ERBB2 | c.3463G>A (p.Gly1155Ser) c.3373G>A (p.Gly1125Ser) c.2635G>A (p.Gly879Ser) c.3418G>A (p.Gly1140Ser) c.*3253G>A (n.*3253G>A) c.*42G>A (n.*42G>A) n.3787G>A c.3601G>A (p.Gly1201Ser) c.3556G>A (p.Gly1186Ser) c.3511G>A (p.Gly1171Ser) c.3580G>A (p.Gly1194Ser) c.3565G>A (p.Gly1189Ser) c.3544G>A (p.Gly1182Ser) c.3538G>A (p.Gly1180Ser) c.3493G>A (p.Gly1165Ser) c.3484G>A (p.Gly1162Ser) c.3460G>A (p.Gly1154Ser) c.3454G>A (p.Gly1152Ser) c.3427G>A (p.Gly1143Ser) c.3421G>A (p.Gly1141Ser) c.3415G>A (p.Gly1139Ser) c.3376G>A (p.Gly1126Ser) c.3364G>A (p.Gly1122Ser) c.3307G>A (p.Gly1103Ser) c.3283G>A (p.Gly1095Ser) c.3277G>A (p.Gly1093Ser) c.3259G>A (p.Gly1087Ser) c.3205G>A (p.Gly1069Ser) c.2512G>A (p.Gly838Ser) c.2425G>A (p.Gly809Ser) n.3701G>A | dbSNP |
17 | g.39727739G>C | CA399312923 | ERBB2 | c.3463G>C (p.Gly1155Arg) c.3373G>C (p.Gly1125Arg) c.2635G>C (p.Gly879Arg) c.3418G>C (p.Gly1140Arg) c.*3253G>C (n.*3253G>C) c.*42G>C (n.*42G>C) n.3787G>C c.3601G>C (p.Gly1201Arg) c.3556G>C (p.Gly1186Arg) c.3511G>C (p.Gly1171Arg) c.3580G>C (p.Gly1194Arg) c.3565G>C (p.Gly1189Arg) c.3544G>C (p.Gly1182Arg) c.3538G>C (p.Gly1180Arg) c.3493G>C (p.Gly1165Arg) c.3484G>C (p.Gly1162Arg) c.3460G>C (p.Gly1154Arg) c.3454G>C (p.Gly1152Arg) c.3427G>C (p.Gly1143Arg) c.3421G>C (p.Gly1141Arg) c.3415G>C (p.Gly1139Arg) c.3376G>C (p.Gly1126Arg) c.3364G>C (p.Gly1122Arg) c.3307G>C (p.Gly1103Arg) c.3283G>C (p.Gly1095Arg) c.3277G>C (p.Gly1093Arg) c.3259G>C (p.Gly1087Arg) c.3205G>C (p.Gly1069Arg) c.2512G>C (p.Gly838Arg) c.2425G>C (p.Gly809Arg) n.3701G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727739G= | CA2259229239 | ERBB2 | c.3463G= (p.Gly1155=) c.3373G= (p.Gly1125=) c.2635G= (p.Gly879=) c.3418G= (p.Gly1140=) c.*3253G= (n.*3253G=) c.*42G= (n.*42G=) n.3787G= c.3601G= (p.Gly1201=) c.3556G= (p.Gly1186=) c.3511G= (p.Gly1171=) c.3580G= (p.Gly1194=) c.3565G= (p.Gly1189=) c.3544G= (p.Gly1182=) c.3538G= (p.Gly1180=) c.3493G= (p.Gly1165=) c.3484G= (p.Gly1162=) c.3460G= (p.Gly1154=) c.3454G= (p.Gly1152=) c.3427G= (p.Gly1143=) c.3421G= (p.Gly1141=) c.3415G= (p.Gly1139=) c.3376G= (p.Gly1126=) c.3364G= (p.Gly1122=) c.3307G= (p.Gly1103=) c.3283G= (p.Gly1095=) c.3277G= (p.Gly1093=) c.3259G= (p.Gly1087=) c.3205G= (p.Gly1069=) c.2512G= (p.Gly838=) c.2425G= (p.Gly809=) n.3701G= | |
17 | g.39727739G>T | CA8534568 | ERBB2 | c.3463G>T (p.Gly1155Cys) c.3373G>T (p.Gly1125Cys) c.2635G>T (p.Gly879Cys) c.3418G>T (p.Gly1140Cys) c.*3253G>T (n.*3253G>T) c.*42G>T (n.*42G>T) n.3787G>T c.3601G>T (p.Gly1201Cys) c.3556G>T (p.Gly1186Cys) c.3511G>T (p.Gly1171Cys) c.3580G>T (p.Gly1194Cys) c.3565G>T (p.Gly1189Cys) c.3544G>T (p.Gly1182Cys) c.3538G>T (p.Gly1180Cys) c.3493G>T (p.Gly1165Cys) c.3484G>T (p.Gly1162Cys) c.3460G>T (p.Gly1154Cys) c.3454G>T (p.Gly1152Cys) c.3427G>T (p.Gly1143Cys) c.3421G>T (p.Gly1141Cys) c.3415G>T (p.Gly1139Cys) c.3376G>T (p.Gly1126Cys) c.3364G>T (p.Gly1122Cys) c.3307G>T (p.Gly1103Cys) c.3283G>T (p.Gly1095Cys) c.3277G>T (p.Gly1093Cys) c.3259G>T (p.Gly1087Cys) c.3205G>T (p.Gly1069Cys) c.2512G>T (p.Gly838Cys) c.2425G>T (p.Gly809Cys) n.3701G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727740G>A | CA399312925 | ERBB2 | c.3464G>A (p.Gly1155Asp) c.3374G>A (p.Gly1125Asp) c.2636G>A (p.Gly879Asp) c.3419G>A (p.Gly1140Asp) c.*3254G>A (n.*3254G>A) c.*43G>A (n.*43G>A) n.3788G>A c.3602G>A (p.Gly1201Asp) c.3557G>A (p.Gly1186Asp) c.3512G>A (p.Gly1171Asp) c.3581G>A (p.Gly1194Asp) c.3566G>A (p.Gly1189Asp) c.3545G>A (p.Gly1182Asp) c.3539G>A (p.Gly1180Asp) c.3494G>A (p.Gly1165Asp) c.3485G>A (p.Gly1162Asp) c.3461G>A (p.Gly1154Asp) c.3455G>A (p.Gly1152Asp) c.3428G>A (p.Gly1143Asp) c.3422G>A (p.Gly1141Asp) c.3416G>A (p.Gly1139Asp) c.3377G>A (p.Gly1126Asp) c.3365G>A (p.Gly1122Asp) c.3308G>A (p.Gly1103Asp) c.3284G>A (p.Gly1095Asp) c.3278G>A (p.Gly1093Asp) c.3260G>A (p.Gly1087Asp) c.3206G>A (p.Gly1069Asp) c.2513G>A (p.Gly838Asp) c.2426G>A (p.Gly809Asp) n.3702G>A | dbSNP gnomAD v4 |
17 | g.39727740G>C | CA399312927 | ERBB2 | c.3464G>C (p.Gly1155Ala) c.3374G>C (p.Gly1125Ala) c.2636G>C (p.Gly879Ala) c.3419G>C (p.Gly1140Ala) c.*3254G>C (n.*3254G>C) c.*43G>C (n.*43G>C) n.3788G>C c.3602G>C (p.Gly1201Ala) c.3557G>C (p.Gly1186Ala) c.3512G>C (p.Gly1171Ala) c.3581G>C (p.Gly1194Ala) c.3566G>C (p.Gly1189Ala) c.3545G>C (p.Gly1182Ala) c.3539G>C (p.Gly1180Ala) c.3494G>C (p.Gly1165Ala) c.3485G>C (p.Gly1162Ala) c.3461G>C (p.Gly1154Ala) c.3455G>C (p.Gly1152Ala) c.3428G>C (p.Gly1143Ala) c.3422G>C (p.Gly1141Ala) c.3416G>C (p.Gly1139Ala) c.3377G>C (p.Gly1126Ala) c.3365G>C (p.Gly1122Ala) c.3308G>C (p.Gly1103Ala) c.3284G>C (p.Gly1095Ala) c.3278G>C (p.Gly1093Ala) c.3260G>C (p.Gly1087Ala) c.3206G>C (p.Gly1069Ala) c.2513G>C (p.Gly838Ala) c.2426G>C (p.Gly809Ala) n.3702G>C | dbSNP |
17 | g.39727740G= | CA2259229240 | ERBB2 | c.3464G= (p.Gly1155=) c.3374G= (p.Gly1125=) c.2636G= (p.Gly879=) c.3419G= (p.Gly1140=) c.*3254G= (n.*3254G=) c.*43G= (n.*43G=) n.3788G= c.3602G= (p.Gly1201=) c.3557G= (p.Gly1186=) c.3512G= (p.Gly1171=) c.3581G= (p.Gly1194=) c.3566G= (p.Gly1189=) c.3545G= (p.Gly1182=) c.3539G= (p.Gly1180=) c.3494G= (p.Gly1165=) c.3485G= (p.Gly1162=) c.3461G= (p.Gly1154=) c.3455G= (p.Gly1152=) c.3428G= (p.Gly1143=) c.3422G= (p.Gly1141=) c.3416G= (p.Gly1139=) c.3377G= (p.Gly1126=) c.3365G= (p.Gly1122=) c.3308G= (p.Gly1103=) c.3284G= (p.Gly1095=) c.3278G= (p.Gly1093=) c.3260G= (p.Gly1087=) c.3206G= (p.Gly1069=) c.2513G= (p.Gly838=) c.2426G= (p.Gly809=) n.3702G= | |
17 | g.39727740G>T | CA399312930 | ERBB2 | c.3464G>T (p.Gly1155Val) c.3374G>T (p.Gly1125Val) c.2636G>T (p.Gly879Val) c.3419G>T (p.Gly1140Val) c.*3254G>T (n.*3254G>T) c.*43G>T (n.*43G>T) n.3788G>T c.3602G>T (p.Gly1201Val) c.3557G>T (p.Gly1186Val) c.3512G>T (p.Gly1171Val) c.3581G>T (p.Gly1194Val) c.3566G>T (p.Gly1189Val) c.3545G>T (p.Gly1182Val) c.3539G>T (p.Gly1180Val) c.3494G>T (p.Gly1165Val) c.3485G>T (p.Gly1162Val) c.3461G>T (p.Gly1154Val) c.3455G>T (p.Gly1152Val) c.3428G>T (p.Gly1143Val) c.3422G>T (p.Gly1141Val) c.3416G>T (p.Gly1139Val) c.3377G>T (p.Gly1126Val) c.3365G>T (p.Gly1122Val) c.3308G>T (p.Gly1103Val) c.3284G>T (p.Gly1095Val) c.3278G>T (p.Gly1093Val) c.3260G>T (p.Gly1087Val) c.3206G>T (p.Gly1069Val) c.2513G>T (p.Gly838Val) c.2426G>T (p.Gly809Val) n.3702G>T | dbSNP gnomAD v2 |
17 | g.39727741C>A | CA499890562 | ERBB2 | c.3465C>A (p.Gly1155=) c.3375C>A (p.Gly1125=) c.2637C>A (p.Gly879=) c.3420C>A (p.Gly1140=) c.*3255C>A (n.*3255C>A) c.*44C>A (n.*44C>A) n.3789C>A c.3603C>A (p.Gly1201=) c.3558C>A (p.Gly1186=) c.3513C>A (p.Gly1171=) c.3582C>A (p.Gly1194=) c.3567C>A (p.Gly1189=) c.3546C>A (p.Gly1182=) c.3540C>A (p.Gly1180=) c.3495C>A (p.Gly1165=) c.3486C>A (p.Gly1162=) c.3462C>A (p.Gly1154=) c.3456C>A (p.Gly1152=) c.3429C>A (p.Gly1143=) c.3423C>A (p.Gly1141=) c.3417C>A (p.Gly1139=) c.3378C>A (p.Gly1126=) c.3366C>A (p.Gly1122=) c.3309C>A (p.Gly1103=) c.3285C>A (p.Gly1095=) c.3279C>A (p.Gly1093=) c.3261C>A (p.Gly1087=) c.3207C>A (p.Gly1069=) c.2514C>A (p.Gly838=) c.2427C>A (p.Gly809=) n.3703C>A | dbSNP |
17 | g.39727741C= | CA2259229241 | ERBB2 | c.3465C= (p.Gly1155=) c.3375C= (p.Gly1125=) c.2637C= (p.Gly879=) c.3420C= (p.Gly1140=) c.*3255C= (n.*3255C=) c.*44C= (n.*44C=) n.3789C= c.3603C= (p.Gly1201=) c.3558C= (p.Gly1186=) c.3513C= (p.Gly1171=) c.3582C= (p.Gly1194=) c.3567C= (p.Gly1189=) c.3546C= (p.Gly1182=) c.3540C= (p.Gly1180=) c.3495C= (p.Gly1165=) c.3486C= (p.Gly1162=) c.3462C= (p.Gly1154=) c.3456C= (p.Gly1152=) c.3429C= (p.Gly1143=) c.3423C= (p.Gly1141=) c.3417C= (p.Gly1139=) c.3378C= (p.Gly1126=) c.3366C= (p.Gly1122=) c.3309C= (p.Gly1103=) c.3285C= (p.Gly1095=) c.3279C= (p.Gly1093=) c.3261C= (p.Gly1087=) c.3207C= (p.Gly1069=) c.2514C= (p.Gly838=) c.2427C= (p.Gly809=) n.3703C= | |
17 | g.39727741C>G | CA499890563 | ERBB2 | c.3465C>G (p.Gly1155=) c.3375C>G (p.Gly1125=) c.2637C>G (p.Gly879=) c.3420C>G (p.Gly1140=) c.*3255C>G (n.*3255C>G) c.*44C>G (n.*44C>G) n.3789C>G c.3603C>G (p.Gly1201=) c.3558C>G (p.Gly1186=) c.3513C>G (p.Gly1171=) c.3582C>G (p.Gly1194=) c.3567C>G (p.Gly1189=) c.3546C>G (p.Gly1182=) c.3540C>G (p.Gly1180=) c.3495C>G (p.Gly1165=) c.3486C>G (p.Gly1162=) c.3462C>G (p.Gly1154=) c.3456C>G (p.Gly1152=) c.3429C>G (p.Gly1143=) c.3423C>G (p.Gly1141=) c.3417C>G (p.Gly1139=) c.3378C>G (p.Gly1126=) c.3366C>G (p.Gly1122=) c.3309C>G (p.Gly1103=) c.3285C>G (p.Gly1095=) c.3279C>G (p.Gly1093=) c.3261C>G (p.Gly1087=) c.3207C>G (p.Gly1069=) c.2514C>G (p.Gly838=) c.2427C>G (p.Gly809=) n.3703C>G | dbSNP |
17 | g.39727741C>T | CA499890565 | ERBB2 | c.3465C>T (p.Gly1155=) c.3375C>T (p.Gly1125=) c.2637C>T (p.Gly879=) c.3420C>T (p.Gly1140=) c.*3255C>T (n.*3255C>T) c.*44C>T (n.*44C>T) n.3789C>T c.3603C>T (p.Gly1201=) c.3558C>T (p.Gly1186=) c.3513C>T (p.Gly1171=) c.3582C>T (p.Gly1194=) c.3567C>T (p.Gly1189=) c.3546C>T (p.Gly1182=) c.3540C>T (p.Gly1180=) c.3495C>T (p.Gly1165=) c.3486C>T (p.Gly1162=) c.3462C>T (p.Gly1154=) c.3456C>T (p.Gly1152=) c.3429C>T (p.Gly1143=) c.3423C>T (p.Gly1141=) c.3417C>T (p.Gly1139=) c.3378C>T (p.Gly1126=) c.3366C>T (p.Gly1122=) c.3309C>T (p.Gly1103=) c.3285C>T (p.Gly1095=) c.3279C>T (p.Gly1093=) c.3261C>T (p.Gly1087=) c.3207C>T (p.Gly1069=) c.2514C>T (p.Gly838=) c.2427C>T (p.Gly809=) n.3703C>T | dbSNP gnomAD v4 |
17 | g.39727742C>A | CA399312934 | ERBB2 | c.3466C>A (p.Pro1156Thr) c.3376C>A (p.Pro1126Thr) c.2638C>A (p.Pro880Thr) c.3421C>A (p.Pro1141Thr) c.*3256C>A (n.*3256C>A) c.*45C>A (n.*45C>A) n.3790C>A c.3604C>A (p.Pro1202Thr) c.3559C>A (p.Pro1187Thr) c.3514C>A (p.Pro1172Thr) c.3583C>A (p.Pro1195Thr) c.3568C>A (p.Pro1190Thr) c.3547C>A (p.Pro1183Thr) c.3541C>A (p.Pro1181Thr) c.3496C>A (p.Pro1166Thr) c.3487C>A (p.Pro1163Thr) c.3463C>A (p.Pro1155Thr) c.3457C>A (p.Pro1153Thr) c.3430C>A (p.Pro1144Thr) c.3424C>A (p.Pro1142Thr) c.3418C>A (p.Pro1140Thr) c.3379C>A (p.Pro1127Thr) c.3367C>A (p.Pro1123Thr) c.3310C>A (p.Pro1104Thr) c.3286C>A (p.Pro1096Thr) c.3280C>A (p.Pro1094Thr) c.3262C>A (p.Pro1088Thr) c.3208C>A (p.Pro1070Thr) c.2515C>A (p.Pro839Thr) c.2428C>A (p.Pro810Thr) n.3704C>A | dbSNP |
17 | g.39727742C>G | CA399312938 | ERBB2 | c.3466C>G (p.Pro1156Ala) c.3376C>G (p.Pro1126Ala) c.2638C>G (p.Pro880Ala) c.3421C>G (p.Pro1141Ala) c.*3256C>G (n.*3256C>G) c.*45C>G (n.*45C>G) n.3790C>G c.3604C>G (p.Pro1202Ala) c.3559C>G (p.Pro1187Ala) c.3514C>G (p.Pro1172Ala) c.3583C>G (p.Pro1195Ala) c.3568C>G (p.Pro1190Ala) c.3547C>G (p.Pro1183Ala) c.3541C>G (p.Pro1181Ala) c.3496C>G (p.Pro1166Ala) c.3487C>G (p.Pro1163Ala) c.3463C>G (p.Pro1155Ala) c.3457C>G (p.Pro1153Ala) c.3430C>G (p.Pro1144Ala) c.3424C>G (p.Pro1142Ala) c.3418C>G (p.Pro1140Ala) c.3379C>G (p.Pro1127Ala) c.3367C>G (p.Pro1123Ala) c.3310C>G (p.Pro1104Ala) c.3286C>G (p.Pro1096Ala) c.3280C>G (p.Pro1094Ala) c.3262C>G (p.Pro1088Ala) c.3208C>G (p.Pro1070Ala) c.2515C>G (p.Pro839Ala) c.2428C>G (p.Pro810Ala) n.3704C>G | dbSNP gnomAD v4 |
17 | g.39727742C>T | CA399312940 | ERBB2 | c.3466C>T (p.Pro1156Ser) c.3376C>T (p.Pro1126Ser) c.2638C>T (p.Pro880Ser) c.3421C>T (p.Pro1141Ser) c.*3256C>T (n.*3256C>T) c.*45C>T (n.*45C>T) n.3790C>T c.3604C>T (p.Pro1202Ser) c.3559C>T (p.Pro1187Ser) c.3514C>T (p.Pro1172Ser) c.3583C>T (p.Pro1195Ser) c.3568C>T (p.Pro1190Ser) c.3547C>T (p.Pro1183Ser) c.3541C>T (p.Pro1181Ser) c.3496C>T (p.Pro1166Ser) c.3487C>T (p.Pro1163Ser) c.3463C>T (p.Pro1155Ser) c.3457C>T (p.Pro1153Ser) c.3430C>T (p.Pro1144Ser) c.3424C>T (p.Pro1142Ser) c.3418C>T (p.Pro1140Ser) c.3379C>T (p.Pro1127Ser) c.3367C>T (p.Pro1123Ser) c.3310C>T (p.Pro1104Ser) c.3286C>T (p.Pro1096Ser) c.3280C>T (p.Pro1094Ser) c.3262C>T (p.Pro1088Ser) c.3208C>T (p.Pro1070Ser) c.2515C>T (p.Pro839Ser) c.2428C>T (p.Pro810Ser) n.3704C>T | dbSNP |
17 | g.39727743C>A | CA399312943 | ERBB2 | c.3467C>A (p.Pro1156His) c.3377C>A (p.Pro1126His) c.2639C>A (p.Pro880His) c.3422C>A (p.Pro1141His) c.*3257C>A (n.*3257C>A) c.*46C>A (n.*46C>A) n.3791C>A c.3605C>A (p.Pro1202His) c.3560C>A (p.Pro1187His) c.3515C>A (p.Pro1172His) c.3584C>A (p.Pro1195His) c.3569C>A (p.Pro1190His) c.3548C>A (p.Pro1183His) c.3542C>A (p.Pro1181His) c.3497C>A (p.Pro1166His) c.3488C>A (p.Pro1163His) c.3464C>A (p.Pro1155His) c.3458C>A (p.Pro1153His) c.3431C>A (p.Pro1144His) c.3425C>A (p.Pro1142His) c.3419C>A (p.Pro1140His) c.3380C>A (p.Pro1127His) c.3368C>A (p.Pro1123His) c.3311C>A (p.Pro1104His) c.3287C>A (p.Pro1096His) c.3281C>A (p.Pro1094His) c.3263C>A (p.Pro1088His) c.3209C>A (p.Pro1070His) c.2516C>A (p.Pro839His) c.2429C>A (p.Pro810His) n.3705C>A | dbSNP gnomAD v4 |
17 | g.39727743C>G | CA399312947 | ERBB2 | c.3467C>G (p.Pro1156Arg) c.3377C>G (p.Pro1126Arg) c.2639C>G (p.Pro880Arg) c.3422C>G (p.Pro1141Arg) c.*3257C>G (n.*3257C>G) c.*46C>G (n.*46C>G) n.3791C>G c.3605C>G (p.Pro1202Arg) c.3560C>G (p.Pro1187Arg) c.3515C>G (p.Pro1172Arg) c.3584C>G (p.Pro1195Arg) c.3569C>G (p.Pro1190Arg) c.3548C>G (p.Pro1183Arg) c.3542C>G (p.Pro1181Arg) c.3497C>G (p.Pro1166Arg) c.3488C>G (p.Pro1163Arg) c.3464C>G (p.Pro1155Arg) c.3458C>G (p.Pro1153Arg) c.3431C>G (p.Pro1144Arg) c.3425C>G (p.Pro1142Arg) c.3419C>G (p.Pro1140Arg) c.3380C>G (p.Pro1127Arg) c.3368C>G (p.Pro1123Arg) c.3311C>G (p.Pro1104Arg) c.3287C>G (p.Pro1096Arg) c.3281C>G (p.Pro1094Arg) c.3263C>G (p.Pro1088Arg) c.3209C>G (p.Pro1070Arg) c.2516C>G (p.Pro839Arg) c.2429C>G (p.Pro810Arg) n.3705C>G | |
17 | g.39727743C>T | CA399312949 | ERBB2 | c.3467C>T (p.Pro1156Leu) c.3377C>T (p.Pro1126Leu) c.2639C>T (p.Pro880Leu) c.3422C>T (p.Pro1141Leu) c.*3257C>T (n.*3257C>T) c.*46C>T (n.*46C>T) n.3791C>T c.3605C>T (p.Pro1202Leu) c.3560C>T (p.Pro1187Leu) c.3515C>T (p.Pro1172Leu) c.3584C>T (p.Pro1195Leu) c.3569C>T (p.Pro1190Leu) c.3548C>T (p.Pro1183Leu) c.3542C>T (p.Pro1181Leu) c.3497C>T (p.Pro1166Leu) c.3488C>T (p.Pro1163Leu) c.3464C>T (p.Pro1155Leu) c.3458C>T (p.Pro1153Leu) c.3431C>T (p.Pro1144Leu) c.3425C>T (p.Pro1142Leu) c.3419C>T (p.Pro1140Leu) c.3380C>T (p.Pro1127Leu) c.3368C>T (p.Pro1123Leu) c.3311C>T (p.Pro1104Leu) c.3287C>T (p.Pro1096Leu) c.3281C>T (p.Pro1094Leu) c.3263C>T (p.Pro1088Leu) c.3209C>T (p.Pro1070Leu) c.2516C>T (p.Pro839Leu) c.2429C>T (p.Pro810Leu) n.3705C>T | dbSNP |
17 | g.39727744T>A | CA499890571 | ERBB2 | c.3468T>A (p.Pro1156=) c.3378T>A (p.Pro1126=) c.2640T>A (p.Pro880=) c.3423T>A (p.Pro1141=) c.*3258T>A (n.*3258T>A) c.*47T>A (n.*47T>A) n.3792T>A c.3606T>A (p.Pro1202=) c.3561T>A (p.Pro1187=) c.3516T>A (p.Pro1172=) c.3585T>A (p.Pro1195=) c.3570T>A (p.Pro1190=) c.3549T>A (p.Pro1183=) c.3543T>A (p.Pro1181=) c.3498T>A (p.Pro1166=) c.3489T>A (p.Pro1163=) c.3465T>A (p.Pro1155=) c.3459T>A (p.Pro1153=) c.3432T>A (p.Pro1144=) c.3426T>A (p.Pro1142=) c.3420T>A (p.Pro1140=) c.3381T>A (p.Pro1127=) c.3369T>A (p.Pro1123=) c.3312T>A (p.Pro1104=) c.3288T>A (p.Pro1096=) c.3282T>A (p.Pro1094=) c.3264T>A (p.Pro1088=) c.3210T>A (p.Pro1070=) c.2517T>A (p.Pro839=) c.2430T>A (p.Pro810=) n.3706T>A | dbSNP |
17 | g.39727744T>C | CA499890572 | ERBB2 | c.3468T>C (p.Pro1156=) c.3378T>C (p.Pro1126=) c.2640T>C (p.Pro880=) c.3423T>C (p.Pro1141=) c.*3258T>C (n.*3258T>C) c.*47T>C (n.*47T>C) n.3792T>C c.3606T>C (p.Pro1202=) c.3561T>C (p.Pro1187=) c.3516T>C (p.Pro1172=) c.3585T>C (p.Pro1195=) c.3570T>C (p.Pro1190=) c.3549T>C (p.Pro1183=) c.3543T>C (p.Pro1181=) c.3498T>C (p.Pro1166=) c.3489T>C (p.Pro1163=) c.3465T>C (p.Pro1155=) c.3459T>C (p.Pro1153=) c.3432T>C (p.Pro1144=) c.3426T>C (p.Pro1142=) c.3420T>C (p.Pro1140=) c.3381T>C (p.Pro1127=) c.3369T>C (p.Pro1123=) c.3312T>C (p.Pro1104=) c.3288T>C (p.Pro1096=) c.3282T>C (p.Pro1094=) c.3264T>C (p.Pro1088=) c.3210T>C (p.Pro1070=) c.2517T>C (p.Pro839=) c.2430T>C (p.Pro810=) n.3706T>C | gnomAD v4 |
17 | g.39727744T>G | CA499890574 | ERBB2 | c.3468T>G (p.Pro1156=) c.3378T>G (p.Pro1126=) c.2640T>G (p.Pro880=) c.3423T>G (p.Pro1141=) c.*3258T>G (n.*3258T>G) c.*47T>G (n.*47T>G) n.3792T>G c.3606T>G (p.Pro1202=) c.3561T>G (p.Pro1187=) c.3516T>G (p.Pro1172=) c.3585T>G (p.Pro1195=) c.3570T>G (p.Pro1190=) c.3549T>G (p.Pro1183=) c.3543T>G (p.Pro1181=) c.3498T>G (p.Pro1166=) c.3489T>G (p.Pro1163=) c.3465T>G (p.Pro1155=) c.3459T>G (p.Pro1153=) c.3432T>G (p.Pro1144=) c.3426T>G (p.Pro1142=) c.3420T>G (p.Pro1140=) c.3381T>G (p.Pro1127=) c.3369T>G (p.Pro1123=) c.3312T>G (p.Pro1104=) c.3288T>G (p.Pro1096=) c.3282T>G (p.Pro1094=) c.3264T>G (p.Pro1088=) c.3210T>G (p.Pro1070=) c.2517T>G (p.Pro839=) c.2430T>G (p.Pro810=) n.3706T>G | |
17 | g.39727745C>A | CA399312953 | ERBB2 | c.3469C>A (p.Leu1157Met) c.3379C>A (p.Leu1127Met) c.2641C>A (p.Leu881Met) c.3424C>A (p.Leu1142Met) c.*3259C>A (n.*3259C>A) c.*48C>A (n.*48C>A) n.3793C>A c.3607C>A (p.Leu1203Met) c.3562C>A (p.Leu1188Met) c.3517C>A (p.Leu1173Met) c.3586C>A (p.Leu1196Met) c.3571C>A (p.Leu1191Met) c.3550C>A (p.Leu1184Met) c.3544C>A (p.Leu1182Met) c.3499C>A (p.Leu1167Met) c.3490C>A (p.Leu1164Met) c.3466C>A (p.Leu1156Met) c.3460C>A (p.Leu1154Met) c.3433C>A (p.Leu1145Met) c.3427C>A (p.Leu1143Met) c.3421C>A (p.Leu1141Met) c.3382C>A (p.Leu1128Met) c.3370C>A (p.Leu1124Met) c.3313C>A (p.Leu1105Met) c.3289C>A (p.Leu1097Met) c.3283C>A (p.Leu1095Met) c.3265C>A (p.Leu1089Met) c.3211C>A (p.Leu1071Met) c.2518C>A (p.Leu840Met) c.2431C>A (p.Leu811Met) n.3707C>A | dbSNP |
17 | g.39727745C>G | CA399312956 | ERBB2 | c.3469C>G (p.Leu1157Val) c.3379C>G (p.Leu1127Val) c.2641C>G (p.Leu881Val) c.3424C>G (p.Leu1142Val) c.*3259C>G (n.*3259C>G) c.*48C>G (n.*48C>G) n.3793C>G c.3607C>G (p.Leu1203Val) c.3562C>G (p.Leu1188Val) c.3517C>G (p.Leu1173Val) c.3586C>G (p.Leu1196Val) c.3571C>G (p.Leu1191Val) c.3550C>G (p.Leu1184Val) c.3544C>G (p.Leu1182Val) c.3499C>G (p.Leu1167Val) c.3490C>G (p.Leu1164Val) c.3466C>G (p.Leu1156Val) c.3460C>G (p.Leu1154Val) c.3433C>G (p.Leu1145Val) c.3427C>G (p.Leu1143Val) c.3421C>G (p.Leu1141Val) c.3382C>G (p.Leu1128Val) c.3370C>G (p.Leu1124Val) c.3313C>G (p.Leu1105Val) c.3289C>G (p.Leu1097Val) c.3283C>G (p.Leu1095Val) c.3265C>G (p.Leu1089Val) c.3211C>G (p.Leu1071Val) c.2518C>G (p.Leu840Val) c.2431C>G (p.Leu811Val) n.3707C>G | dbSNP |
17 | g.39727745C>T | CA499890576 | ERBB2 | c.3469C>T (p.Leu1157=) c.3379C>T (p.Leu1127=) c.2641C>T (p.Leu881=) c.3424C>T (p.Leu1142=) c.*3259C>T (n.*3259C>T) c.*48C>T (n.*48C>T) n.3793C>T c.3607C>T (p.Leu1203=) c.3562C>T (p.Leu1188=) c.3517C>T (p.Leu1173=) c.3586C>T (p.Leu1196=) c.3571C>T (p.Leu1191=) c.3550C>T (p.Leu1184=) c.3544C>T (p.Leu1182=) c.3499C>T (p.Leu1167=) c.3490C>T (p.Leu1164=) c.3466C>T (p.Leu1156=) c.3460C>T (p.Leu1154=) c.3433C>T (p.Leu1145=) c.3427C>T (p.Leu1143=) c.3421C>T (p.Leu1141=) c.3382C>T (p.Leu1128=) c.3370C>T (p.Leu1124=) c.3313C>T (p.Leu1105=) c.3289C>T (p.Leu1097=) c.3283C>T (p.Leu1095=) c.3265C>T (p.Leu1089=) c.3211C>T (p.Leu1071=) c.2518C>T (p.Leu840=) c.2431C>T (p.Leu811=) n.3707C>T | dbSNP gnomAD v4 |
17 | g.39727746T>A | CA399312962 | ERBB2 | c.3470T>A (p.Leu1157Gln) c.3380T>A (p.Leu1127Gln) c.2642T>A (p.Leu881Gln) c.3425T>A (p.Leu1142Gln) c.*3260T>A (n.*3260T>A) c.*49T>A (n.*49T>A) n.3794T>A c.3608T>A (p.Leu1203Gln) c.3563T>A (p.Leu1188Gln) c.3518T>A (p.Leu1173Gln) c.3587T>A (p.Leu1196Gln) c.3572T>A (p.Leu1191Gln) c.3551T>A (p.Leu1184Gln) c.3545T>A (p.Leu1182Gln) c.3500T>A (p.Leu1167Gln) c.3491T>A (p.Leu1164Gln) c.3467T>A (p.Leu1156Gln) c.3461T>A (p.Leu1154Gln) c.3434T>A (p.Leu1145Gln) c.3428T>A (p.Leu1143Gln) c.3422T>A (p.Leu1141Gln) c.3383T>A (p.Leu1128Gln) c.3371T>A (p.Leu1124Gln) c.3314T>A (p.Leu1105Gln) c.3290T>A (p.Leu1097Gln) c.3284T>A (p.Leu1095Gln) c.3266T>A (p.Leu1089Gln) c.3212T>A (p.Leu1071Gln) c.2519T>A (p.Leu840Gln) c.2432T>A (p.Leu811Gln) n.3708T>A | dbSNP |
17 | g.39727746T>C | CA399312967 | ERBB2 | c.3470T>C (p.Leu1157Pro) c.3380T>C (p.Leu1127Pro) c.2642T>C (p.Leu881Pro) c.3425T>C (p.Leu1142Pro) c.*3260T>C (n.*3260T>C) c.*49T>C (n.*49T>C) n.3794T>C c.3608T>C (p.Leu1203Pro) c.3563T>C (p.Leu1188Pro) c.3518T>C (p.Leu1173Pro) c.3587T>C (p.Leu1196Pro) c.3572T>C (p.Leu1191Pro) c.3551T>C (p.Leu1184Pro) c.3545T>C (p.Leu1182Pro) c.3500T>C (p.Leu1167Pro) c.3491T>C (p.Leu1164Pro) c.3467T>C (p.Leu1156Pro) c.3461T>C (p.Leu1154Pro) c.3434T>C (p.Leu1145Pro) c.3428T>C (p.Leu1143Pro) c.3422T>C (p.Leu1141Pro) c.3383T>C (p.Leu1128Pro) c.3371T>C (p.Leu1124Pro) c.3314T>C (p.Leu1105Pro) c.3290T>C (p.Leu1097Pro) c.3284T>C (p.Leu1095Pro) c.3266T>C (p.Leu1089Pro) c.3212T>C (p.Leu1071Pro) c.2519T>C (p.Leu840Pro) c.2432T>C (p.Leu811Pro) n.3708T>C | dbSNP |
17 | g.39727746T>G | CA8534569 | ERBB2 | c.3470T>G (p.Leu1157Arg) c.3380T>G (p.Leu1127Arg) c.2642T>G (p.Leu881Arg) c.3425T>G (p.Leu1142Arg) c.*3260T>G (n.*3260T>G) c.*49T>G (n.*49T>G) n.3794T>G c.3608T>G (p.Leu1203Arg) c.3563T>G (p.Leu1188Arg) c.3518T>G (p.Leu1173Arg) c.3587T>G (p.Leu1196Arg) c.3572T>G (p.Leu1191Arg) c.3551T>G (p.Leu1184Arg) c.3545T>G (p.Leu1182Arg) c.3500T>G (p.Leu1167Arg) c.3491T>G (p.Leu1164Arg) c.3467T>G (p.Leu1156Arg) c.3461T>G (p.Leu1154Arg) c.3434T>G (p.Leu1145Arg) c.3428T>G (p.Leu1143Arg) c.3422T>G (p.Leu1141Arg) c.3383T>G (p.Leu1128Arg) c.3371T>G (p.Leu1124Arg) c.3314T>G (p.Leu1105Arg) c.3290T>G (p.Leu1097Arg) c.3284T>G (p.Leu1095Arg) c.3266T>G (p.Leu1089Arg) c.3212T>G (p.Leu1071Arg) c.2519T>G (p.Leu840Arg) c.2432T>G (p.Leu811Arg) n.3708T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727746T= | CA2259229242 | ERBB2 | c.3470T= (p.Leu1157=) c.3380T= (p.Leu1127=) c.2642T= (p.Leu881=) c.3425T= (p.Leu1142=) c.*3260T= (n.*3260T=) c.*49T= (n.*49T=) n.3794T= c.3608T= (p.Leu1203=) c.3563T= (p.Leu1188=) c.3518T= (p.Leu1173=) c.3587T= (p.Leu1196=) c.3572T= (p.Leu1191=) c.3551T= (p.Leu1184=) c.3545T= (p.Leu1182=) c.3500T= (p.Leu1167=) c.3491T= (p.Leu1164=) c.3467T= (p.Leu1156=) c.3461T= (p.Leu1154=) c.3434T= (p.Leu1145=) c.3428T= (p.Leu1143=) c.3422T= (p.Leu1141=) c.3383T= (p.Leu1128=) c.3371T= (p.Leu1124=) c.3314T= (p.Leu1105=) c.3290T= (p.Leu1097=) c.3284T= (p.Leu1095=) c.3266T= (p.Leu1089=) c.3212T= (p.Leu1071=) c.2519T= (p.Leu840=) c.2432T= (p.Leu811=) n.3708T= | |
17 | g.39727747G>A | CA499890580 | ERBB2 | c.3471G>A (p.Leu1157=) c.3381G>A (p.Leu1127=) c.2643G>A (p.Leu881=) c.3426G>A (p.Leu1142=) c.*3261G>A (n.*3261G>A) c.*50G>A (n.*50G>A) n.3795G>A c.3609G>A (p.Leu1203=) c.3564G>A (p.Leu1188=) c.3519G>A (p.Leu1173=) c.3588G>A (p.Leu1196=) c.3573G>A (p.Leu1191=) c.3552G>A (p.Leu1184=) c.3546G>A (p.Leu1182=) c.3501G>A (p.Leu1167=) c.3492G>A (p.Leu1164=) c.3468G>A (p.Leu1156=) c.3462G>A (p.Leu1154=) c.3435G>A (p.Leu1145=) c.3429G>A (p.Leu1143=) c.3423G>A (p.Leu1141=) c.3384G>A (p.Leu1128=) c.3372G>A (p.Leu1124=) c.3315G>A (p.Leu1105=) c.3291G>A (p.Leu1097=) c.3285G>A (p.Leu1095=) c.3267G>A (p.Leu1089=) c.3213G>A (p.Leu1071=) c.2520G>A (p.Leu840=) c.2433G>A (p.Leu811=) n.3709G>A | dbSNP |
17 | g.39727747G>C | CA499890581 | ERBB2 | c.3471G>C (p.Leu1157=) c.3381G>C (p.Leu1127=) c.2643G>C (p.Leu881=) c.3426G>C (p.Leu1142=) c.*3261G>C (n.*3261G>C) c.*50G>C (n.*50G>C) n.3795G>C c.3609G>C (p.Leu1203=) c.3564G>C (p.Leu1188=) c.3519G>C (p.Leu1173=) c.3588G>C (p.Leu1196=) c.3573G>C (p.Leu1191=) c.3552G>C (p.Leu1184=) c.3546G>C (p.Leu1182=) c.3501G>C (p.Leu1167=) c.3492G>C (p.Leu1164=) c.3468G>C (p.Leu1156=) c.3462G>C (p.Leu1154=) c.3435G>C (p.Leu1145=) c.3429G>C (p.Leu1143=) c.3423G>C (p.Leu1141=) c.3384G>C (p.Leu1128=) c.3372G>C (p.Leu1124=) c.3315G>C (p.Leu1105=) c.3291G>C (p.Leu1097=) c.3285G>C (p.Leu1095=) c.3267G>C (p.Leu1089=) c.3213G>C (p.Leu1071=) c.2520G>C (p.Leu840=) c.2433G>C (p.Leu811=) n.3709G>C | dbSNP |
17 | g.39727747G= | CA2259229243 | ERBB2 | c.3471G= (p.Leu1157=) c.3381G= (p.Leu1127=) c.2643G= (p.Leu881=) c.3426G= (p.Leu1142=) c.*3261G= (n.*3261G=) c.*50G= (n.*50G=) n.3795G= c.3609G= (p.Leu1203=) c.3564G= (p.Leu1188=) c.3519G= (p.Leu1173=) c.3588G= (p.Leu1196=) c.3573G= (p.Leu1191=) c.3552G= (p.Leu1184=) c.3546G= (p.Leu1182=) c.3501G= (p.Leu1167=) c.3492G= (p.Leu1164=) c.3468G= (p.Leu1156=) c.3462G= (p.Leu1154=) c.3435G= (p.Leu1145=) c.3429G= (p.Leu1143=) c.3423G= (p.Leu1141=) c.3384G= (p.Leu1128=) c.3372G= (p.Leu1124=) c.3315G= (p.Leu1105=) c.3291G= (p.Leu1097=) c.3285G= (p.Leu1095=) c.3267G= (p.Leu1089=) c.3213G= (p.Leu1071=) c.2520G= (p.Leu840=) c.2433G= (p.Leu811=) n.3709G= | |
17 | g.39727747G>T | CA499890583 | ERBB2 | c.3471G>T (p.Leu1157=) c.3381G>T (p.Leu1127=) c.2643G>T (p.Leu881=) c.3426G>T (p.Leu1142=) c.*3261G>T (n.*3261G>T) c.*50G>T (n.*50G>T) n.3795G>T c.3609G>T (p.Leu1203=) c.3564G>T (p.Leu1188=) c.3519G>T (p.Leu1173=) c.3588G>T (p.Leu1196=) c.3573G>T (p.Leu1191=) c.3552G>T (p.Leu1184=) c.3546G>T (p.Leu1182=) c.3501G>T (p.Leu1167=) c.3492G>T (p.Leu1164=) c.3468G>T (p.Leu1156=) c.3462G>T (p.Leu1154=) c.3435G>T (p.Leu1145=) c.3429G>T (p.Leu1143=) c.3423G>T (p.Leu1141=) c.3384G>T (p.Leu1128=) c.3372G>T (p.Leu1124=) c.3315G>T (p.Leu1105=) c.3291G>T (p.Leu1097=) c.3285G>T (p.Leu1095=) c.3267G>T (p.Leu1089=) c.3213G>T (p.Leu1071=) c.2520G>T (p.Leu840=) c.2433G>T (p.Leu811=) n.3709G>T | dbSNP gnomAD v4 |
17 | g.39727748C>A | CA399312970 | ERBB2 | c.3472C>A (p.Pro1158Thr) c.3382C>A (p.Pro1128Thr) c.2644C>A (p.Pro882Thr) c.3427C>A (p.Pro1143Thr) c.*3262C>A (n.*3262C>A) c.*51C>A (n.*51C>A) n.3796C>A c.3610C>A (p.Pro1204Thr) c.3565C>A (p.Pro1189Thr) c.3520C>A (p.Pro1174Thr) c.3589C>A (p.Pro1197Thr) c.3574C>A (p.Pro1192Thr) c.3553C>A (p.Pro1185Thr) c.3547C>A (p.Pro1183Thr) c.3502C>A (p.Pro1168Thr) c.3493C>A (p.Pro1165Thr) c.3469C>A (p.Pro1157Thr) c.3463C>A (p.Pro1155Thr) c.3436C>A (p.Pro1146Thr) c.3430C>A (p.Pro1144Thr) c.3424C>A (p.Pro1142Thr) c.3385C>A (p.Pro1129Thr) c.3373C>A (p.Pro1125Thr) c.3316C>A (p.Pro1106Thr) c.3292C>A (p.Pro1098Thr) c.3286C>A (p.Pro1096Thr) c.3268C>A (p.Pro1090Thr) c.3214C>A (p.Pro1072Thr) c.2521C>A (p.Pro841Thr) c.2434C>A (p.Pro812Thr) n.3710C>A | dbSNP gnomAD v4 |
17 | g.39727748C>G | CA399312972 | ERBB2 | c.3472C>G (p.Pro1158Ala) c.3382C>G (p.Pro1128Ala) c.2644C>G (p.Pro882Ala) c.3427C>G (p.Pro1143Ala) c.*3262C>G (n.*3262C>G) c.*51C>G (n.*51C>G) n.3796C>G c.3610C>G (p.Pro1204Ala) c.3565C>G (p.Pro1189Ala) c.3520C>G (p.Pro1174Ala) c.3589C>G (p.Pro1197Ala) c.3574C>G (p.Pro1192Ala) c.3553C>G (p.Pro1185Ala) c.3547C>G (p.Pro1183Ala) c.3502C>G (p.Pro1168Ala) c.3493C>G (p.Pro1165Ala) c.3469C>G (p.Pro1157Ala) c.3463C>G (p.Pro1155Ala) c.3436C>G (p.Pro1146Ala) c.3430C>G (p.Pro1144Ala) c.3424C>G (p.Pro1142Ala) c.3385C>G (p.Pro1129Ala) c.3373C>G (p.Pro1125Ala) c.3316C>G (p.Pro1106Ala) c.3292C>G (p.Pro1098Ala) c.3286C>G (p.Pro1096Ala) c.3268C>G (p.Pro1090Ala) c.3214C>G (p.Pro1072Ala) c.2521C>G (p.Pro841Ala) c.2434C>G (p.Pro812Ala) n.3710C>G | dbSNP |
17 | g.39727748C>T | CA399312975 | ERBB2 | c.3472C>T (p.Pro1158Ser) c.3382C>T (p.Pro1128Ser) c.2644C>T (p.Pro882Ser) c.3427C>T (p.Pro1143Ser) c.*3262C>T (n.*3262C>T) c.*51C>T (n.*51C>T) n.3796C>T c.3610C>T (p.Pro1204Ser) c.3565C>T (p.Pro1189Ser) c.3520C>T (p.Pro1174Ser) c.3589C>T (p.Pro1197Ser) c.3574C>T (p.Pro1192Ser) c.3553C>T (p.Pro1185Ser) c.3547C>T (p.Pro1183Ser) c.3502C>T (p.Pro1168Ser) c.3493C>T (p.Pro1165Ser) c.3469C>T (p.Pro1157Ser) c.3463C>T (p.Pro1155Ser) c.3436C>T (p.Pro1146Ser) c.3430C>T (p.Pro1144Ser) c.3424C>T (p.Pro1142Ser) c.3385C>T (p.Pro1129Ser) c.3373C>T (p.Pro1125Ser) c.3316C>T (p.Pro1106Ser) c.3292C>T (p.Pro1098Ser) c.3286C>T (p.Pro1096Ser) c.3268C>T (p.Pro1090Ser) c.3214C>T (p.Pro1072Ser) c.2521C>T (p.Pro841Ser) c.2434C>T (p.Pro812Ser) n.3710C>T | dbSNP gnomAD v4 |
17 | g.39727749C>A | CA399312978 | ERBB2 | c.3473C>A (p.Pro1158His) c.3383C>A (p.Pro1128His) c.2645C>A (p.Pro882His) c.3428C>A (p.Pro1143His) c.*3263C>A (n.*3263C>A) c.*52C>A (n.*52C>A) n.3797C>A c.3611C>A (p.Pro1204His) c.3566C>A (p.Pro1189His) c.3521C>A (p.Pro1174His) c.3590C>A (p.Pro1197His) c.3575C>A (p.Pro1192His) c.3554C>A (p.Pro1185His) c.3548C>A (p.Pro1183His) c.3503C>A (p.Pro1168His) c.3494C>A (p.Pro1165His) c.3470C>A (p.Pro1157His) c.3464C>A (p.Pro1155His) c.3437C>A (p.Pro1146His) c.3431C>A (p.Pro1144His) c.3425C>A (p.Pro1142His) c.3386C>A (p.Pro1129His) c.3374C>A (p.Pro1125His) c.3317C>A (p.Pro1106His) c.3293C>A (p.Pro1098His) c.3287C>A (p.Pro1096His) c.3269C>A (p.Pro1090His) c.3215C>A (p.Pro1072His) c.2522C>A (p.Pro841His) c.2435C>A (p.Pro812His) n.3711C>A | |
17 | g.39727749C= | CA2259229244 | ERBB2 | c.3473C= (p.Pro1158=) c.3383C= (p.Pro1128=) c.2645C= (p.Pro882=) c.3428C= (p.Pro1143=) c.*3263C= (n.*3263C=) c.*52C= (n.*52C=) n.3797C= c.3611C= (p.Pro1204=) c.3566C= (p.Pro1189=) c.3521C= (p.Pro1174=) c.3590C= (p.Pro1197=) c.3575C= (p.Pro1192=) c.3554C= (p.Pro1185=) c.3548C= (p.Pro1183=) c.3503C= (p.Pro1168=) c.3494C= (p.Pro1165=) c.3470C= (p.Pro1157=) c.3464C= (p.Pro1155=) c.3437C= (p.Pro1146=) c.3431C= (p.Pro1144=) c.3425C= (p.Pro1142=) c.3386C= (p.Pro1129=) c.3374C= (p.Pro1125=) c.3317C= (p.Pro1106=) c.3293C= (p.Pro1098=) c.3287C= (p.Pro1096=) c.3269C= (p.Pro1090=) c.3215C= (p.Pro1072=) c.2522C= (p.Pro841=) c.2435C= (p.Pro812=) n.3711C= | |
17 | g.39727749C>G | CA399312981 | ERBB2 | c.3473C>G (p.Pro1158Arg) c.3383C>G (p.Pro1128Arg) c.2645C>G (p.Pro882Arg) c.3428C>G (p.Pro1143Arg) c.*3263C>G (n.*3263C>G) c.*52C>G (n.*52C>G) n.3797C>G c.3611C>G (p.Pro1204Arg) c.3566C>G (p.Pro1189Arg) c.3521C>G (p.Pro1174Arg) c.3590C>G (p.Pro1197Arg) c.3575C>G (p.Pro1192Arg) c.3554C>G (p.Pro1185Arg) c.3548C>G (p.Pro1183Arg) c.3503C>G (p.Pro1168Arg) c.3494C>G (p.Pro1165Arg) c.3470C>G (p.Pro1157Arg) c.3464C>G (p.Pro1155Arg) c.3437C>G (p.Pro1146Arg) c.3431C>G (p.Pro1144Arg) c.3425C>G (p.Pro1142Arg) c.3386C>G (p.Pro1129Arg) c.3374C>G (p.Pro1125Arg) c.3317C>G (p.Pro1106Arg) c.3293C>G (p.Pro1098Arg) c.3287C>G (p.Pro1096Arg) c.3269C>G (p.Pro1090Arg) c.3215C>G (p.Pro1072Arg) c.2522C>G (p.Pro841Arg) c.2435C>G (p.Pro812Arg) n.3711C>G | |
17 | g.39727749C>T | CA399312985 | ERBB2 | c.3473C>T (p.Pro1158Leu) c.3383C>T (p.Pro1128Leu) c.2645C>T (p.Pro882Leu) c.3428C>T (p.Pro1143Leu) c.*3263C>T (n.*3263C>T) c.*52C>T (n.*52C>T) n.3797C>T c.3611C>T (p.Pro1204Leu) c.3566C>T (p.Pro1189Leu) c.3521C>T (p.Pro1174Leu) c.3590C>T (p.Pro1197Leu) c.3575C>T (p.Pro1192Leu) c.3554C>T (p.Pro1185Leu) c.3548C>T (p.Pro1183Leu) c.3503C>T (p.Pro1168Leu) c.3494C>T (p.Pro1165Leu) c.3470C>T (p.Pro1157Leu) c.3464C>T (p.Pro1155Leu) c.3437C>T (p.Pro1146Leu) c.3431C>T (p.Pro1144Leu) c.3425C>T (p.Pro1142Leu) c.3386C>T (p.Pro1129Leu) c.3374C>T (p.Pro1125Leu) c.3317C>T (p.Pro1106Leu) c.3293C>T (p.Pro1098Leu) c.3287C>T (p.Pro1096Leu) c.3269C>T (p.Pro1090Leu) c.3215C>T (p.Pro1072Leu) c.2522C>T (p.Pro841Leu) c.2435C>T (p.Pro812Leu) n.3711C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727750T>A | CA499890589 | ERBB2 | c.3474T>A (p.Pro1158=) c.3384T>A (p.Pro1128=) c.2646T>A (p.Pro882=) c.3429T>A (p.Pro1143=) c.*3264T>A (n.*3264T>A) c.*53T>A (n.*53T>A) n.3798T>A c.3612T>A (p.Pro1204=) c.3567T>A (p.Pro1189=) c.3522T>A (p.Pro1174=) c.3591T>A (p.Pro1197=) c.3576T>A (p.Pro1192=) c.3555T>A (p.Pro1185=) c.3549T>A (p.Pro1183=) c.3504T>A (p.Pro1168=) c.3495T>A (p.Pro1165=) c.3471T>A (p.Pro1157=) c.3465T>A (p.Pro1155=) c.3438T>A (p.Pro1146=) c.3432T>A (p.Pro1144=) c.3426T>A (p.Pro1142=) c.3387T>A (p.Pro1129=) c.3375T>A (p.Pro1125=) c.3318T>A (p.Pro1106=) c.3294T>A (p.Pro1098=) c.3288T>A (p.Pro1096=) c.3270T>A (p.Pro1090=) c.3216T>A (p.Pro1072=) c.2523T>A (p.Pro841=) c.2436T>A (p.Pro812=) n.3712T>A | |
17 | g.39727750T>C | CA499890590 | ERBB2 | c.3474T>C (p.Pro1158=) c.3384T>C (p.Pro1128=) c.2646T>C (p.Pro882=) c.3429T>C (p.Pro1143=) c.*3264T>C (n.*3264T>C) c.*53T>C (n.*53T>C) n.3798T>C c.3612T>C (p.Pro1204=) c.3567T>C (p.Pro1189=) c.3522T>C (p.Pro1174=) c.3591T>C (p.Pro1197=) c.3576T>C (p.Pro1192=) c.3555T>C (p.Pro1185=) c.3549T>C (p.Pro1183=) c.3504T>C (p.Pro1168=) c.3495T>C (p.Pro1165=) c.3471T>C (p.Pro1157=) c.3465T>C (p.Pro1155=) c.3438T>C (p.Pro1146=) c.3432T>C (p.Pro1144=) c.3426T>C (p.Pro1142=) c.3387T>C (p.Pro1129=) c.3375T>C (p.Pro1125=) c.3318T>C (p.Pro1106=) c.3294T>C (p.Pro1098=) c.3288T>C (p.Pro1096=) c.3270T>C (p.Pro1090=) c.3216T>C (p.Pro1072=) c.2523T>C (p.Pro841=) c.2436T>C (p.Pro812=) n.3712T>C | dbSNP |
17 | g.39727750T>G | CA8534570 | ERBB2 | c.3474T>G (p.Pro1158=) c.3384T>G (p.Pro1128=) c.2646T>G (p.Pro882=) c.3429T>G (p.Pro1143=) c.*3264T>G (n.*3264T>G) c.*53T>G (n.*53T>G) n.3798T>G c.3612T>G (p.Pro1204=) c.3567T>G (p.Pro1189=) c.3522T>G (p.Pro1174=) c.3591T>G (p.Pro1197=) c.3576T>G (p.Pro1192=) c.3555T>G (p.Pro1185=) c.3549T>G (p.Pro1183=) c.3504T>G (p.Pro1168=) c.3495T>G (p.Pro1165=) c.3471T>G (p.Pro1157=) c.3465T>G (p.Pro1155=) c.3438T>G (p.Pro1146=) c.3432T>G (p.Pro1144=) c.3426T>G (p.Pro1142=) c.3387T>G (p.Pro1129=) c.3375T>G (p.Pro1125=) c.3318T>G (p.Pro1106=) c.3294T>G (p.Pro1098=) c.3288T>G (p.Pro1096=) c.3270T>G (p.Pro1090=) c.3216T>G (p.Pro1072=) c.2523T>G (p.Pro841=) c.2436T>G (p.Pro812=) n.3712T>G | dbSNP ExAC gnomAD v2 |
17 | g.39727750T= | CA2259229245 | ERBB2 | c.3474T= (p.Pro1158=) c.3384T= (p.Pro1128=) c.2646T= (p.Pro882=) c.3429T= (p.Pro1143=) c.*3264T= (n.*3264T=) c.*53T= (n.*53T=) n.3798T= c.3612T= (p.Pro1204=) c.3567T= (p.Pro1189=) c.3522T= (p.Pro1174=) c.3591T= (p.Pro1197=) c.3576T= (p.Pro1192=) c.3555T= (p.Pro1185=) c.3549T= (p.Pro1183=) c.3504T= (p.Pro1168=) c.3495T= (p.Pro1165=) c.3471T= (p.Pro1157=) c.3465T= (p.Pro1155=) c.3438T= (p.Pro1146=) c.3432T= (p.Pro1144=) c.3426T= (p.Pro1142=) c.3387T= (p.Pro1129=) c.3375T= (p.Pro1125=) c.3318T= (p.Pro1106=) c.3294T= (p.Pro1098=) c.3288T= (p.Pro1096=) c.3270T= (p.Pro1090=) c.3216T= (p.Pro1072=) c.2523T= (p.Pro841=) c.2436T= (p.Pro812=) n.3712T= | |
17 | g.39727751G>A | CA399312991 | ERBB2 | c.3475G>A (p.Ala1159Thr) c.3385G>A (p.Ala1129Thr) c.2647G>A (p.Ala883Thr) c.3430G>A (p.Ala1144Thr) c.*3265G>A (n.*3265G>A) c.*54G>A (n.*54G>A) n.3799G>A c.3613G>A (p.Ala1205Thr) c.3568G>A (p.Ala1190Thr) c.3523G>A (p.Ala1175Thr) c.3592G>A (p.Ala1198Thr) c.3577G>A (p.Ala1193Thr) c.3556G>A (p.Ala1186Thr) c.3550G>A (p.Ala1184Thr) c.3505G>A (p.Ala1169Thr) c.3496G>A (p.Ala1166Thr) c.3472G>A (p.Ala1158Thr) c.3466G>A (p.Ala1156Thr) c.3439G>A (p.Ala1147Thr) c.3433G>A (p.Ala1145Thr) c.3427G>A (p.Ala1143Thr) c.3388G>A (p.Ala1130Thr) c.3376G>A (p.Ala1126Thr) c.3319G>A (p.Ala1107Thr) c.3295G>A (p.Ala1099Thr) c.3289G>A (p.Ala1097Thr) c.3271G>A (p.Ala1091Thr) c.3217G>A (p.Ala1073Thr) c.2524G>A (p.Ala842Thr) c.2437G>A (p.Ala813Thr) n.3713G>A | dbSNP |
17 | g.39727751G>C | CA399312994 | ERBB2 | c.3475G>C (p.Ala1159Pro) c.3385G>C (p.Ala1129Pro) c.2647G>C (p.Ala883Pro) c.3430G>C (p.Ala1144Pro) c.*3265G>C (n.*3265G>C) c.*54G>C (n.*54G>C) n.3799G>C c.3613G>C (p.Ala1205Pro) c.3568G>C (p.Ala1190Pro) c.3523G>C (p.Ala1175Pro) c.3592G>C (p.Ala1198Pro) c.3577G>C (p.Ala1193Pro) c.3556G>C (p.Ala1186Pro) c.3550G>C (p.Ala1184Pro) c.3505G>C (p.Ala1169Pro) c.3496G>C (p.Ala1166Pro) c.3472G>C (p.Ala1158Pro) c.3466G>C (p.Ala1156Pro) c.3439G>C (p.Ala1147Pro) c.3433G>C (p.Ala1145Pro) c.3427G>C (p.Ala1143Pro) c.3388G>C (p.Ala1130Pro) c.3376G>C (p.Ala1126Pro) c.3319G>C (p.Ala1107Pro) c.3295G>C (p.Ala1099Pro) c.3289G>C (p.Ala1097Pro) c.3271G>C (p.Ala1091Pro) c.3217G>C (p.Ala1073Pro) c.2524G>C (p.Ala842Pro) c.2437G>C (p.Ala813Pro) n.3713G>C | dbSNP |
17 | g.39727751G>T | CA399312997 | ERBB2 | c.3475G>T (p.Ala1159Ser) c.3385G>T (p.Ala1129Ser) c.2647G>T (p.Ala883Ser) c.3430G>T (p.Ala1144Ser) c.*3265G>T (n.*3265G>T) c.*54G>T (n.*54G>T) n.3799G>T c.3613G>T (p.Ala1205Ser) c.3568G>T (p.Ala1190Ser) c.3523G>T (p.Ala1175Ser) c.3592G>T (p.Ala1198Ser) c.3577G>T (p.Ala1193Ser) c.3556G>T (p.Ala1186Ser) c.3550G>T (p.Ala1184Ser) c.3505G>T (p.Ala1169Ser) c.3496G>T (p.Ala1166Ser) c.3472G>T (p.Ala1158Ser) c.3466G>T (p.Ala1156Ser) c.3439G>T (p.Ala1147Ser) c.3433G>T (p.Ala1145Ser) c.3427G>T (p.Ala1143Ser) c.3388G>T (p.Ala1130Ser) c.3376G>T (p.Ala1126Ser) c.3319G>T (p.Ala1107Ser) c.3295G>T (p.Ala1099Ser) c.3289G>T (p.Ala1097Ser) c.3271G>T (p.Ala1091Ser) c.3217G>T (p.Ala1073Ser) c.2524G>T (p.Ala842Ser) c.2437G>T (p.Ala813Ser) n.3713G>T | dbSNP gnomAD v4 |
17 | g.39727752C>A | CA399313008 | ERBB2 | c.3476C>A (p.Ala1159Asp) c.3386C>A (p.Ala1129Asp) c.2648C>A (p.Ala883Asp) c.3431C>A (p.Ala1144Asp) c.*3266C>A (n.*3266C>A) c.*55C>A (n.*55C>A) n.3800C>A c.3614C>A (p.Ala1205Asp) c.3569C>A (p.Ala1190Asp) c.3524C>A (p.Ala1175Asp) c.3593C>A (p.Ala1198Asp) c.3578C>A (p.Ala1193Asp) c.3557C>A (p.Ala1186Asp) c.3551C>A (p.Ala1184Asp) c.3506C>A (p.Ala1169Asp) c.3497C>A (p.Ala1166Asp) c.3473C>A (p.Ala1158Asp) c.3467C>A (p.Ala1156Asp) c.3440C>A (p.Ala1147Asp) c.3434C>A (p.Ala1145Asp) c.3428C>A (p.Ala1143Asp) c.3389C>A (p.Ala1130Asp) c.3377C>A (p.Ala1126Asp) c.3320C>A (p.Ala1107Asp) c.3296C>A (p.Ala1099Asp) c.3290C>A (p.Ala1097Asp) c.3272C>A (p.Ala1091Asp) c.3218C>A (p.Ala1073Asp) c.2525C>A (p.Ala842Asp) c.2438C>A (p.Ala813Asp) n.3714C>A | dbSNP gnomAD v4 |
17 | g.39727752C>G | CA399313005 | ERBB2 | c.3476C>G (p.Ala1159Gly) c.3386C>G (p.Ala1129Gly) c.2648C>G (p.Ala883Gly) c.3431C>G (p.Ala1144Gly) c.*3266C>G (n.*3266C>G) c.*55C>G (n.*55C>G) n.3800C>G c.3614C>G (p.Ala1205Gly) c.3569C>G (p.Ala1190Gly) c.3524C>G (p.Ala1175Gly) c.3593C>G (p.Ala1198Gly) c.3578C>G (p.Ala1193Gly) c.3557C>G (p.Ala1186Gly) c.3551C>G (p.Ala1184Gly) c.3506C>G (p.Ala1169Gly) c.3497C>G (p.Ala1166Gly) c.3473C>G (p.Ala1158Gly) c.3467C>G (p.Ala1156Gly) c.3440C>G (p.Ala1147Gly) c.3434C>G (p.Ala1145Gly) c.3428C>G (p.Ala1143Gly) c.3389C>G (p.Ala1130Gly) c.3377C>G (p.Ala1126Gly) c.3320C>G (p.Ala1107Gly) c.3296C>G (p.Ala1099Gly) c.3290C>G (p.Ala1097Gly) c.3272C>G (p.Ala1091Gly) c.3218C>G (p.Ala1073Gly) c.2525C>G (p.Ala842Gly) c.2438C>G (p.Ala813Gly) n.3714C>G | dbSNP |
17 | g.39727752C>T | CA399313002 | ERBB2 | c.3476C>T (p.Ala1159Val) c.3386C>T (p.Ala1129Val) c.2648C>T (p.Ala883Val) c.3431C>T (p.Ala1144Val) c.*3266C>T (n.*3266C>T) c.*55C>T (n.*55C>T) n.3800C>T c.3614C>T (p.Ala1205Val) c.3569C>T (p.Ala1190Val) c.3524C>T (p.Ala1175Val) c.3593C>T (p.Ala1198Val) c.3578C>T (p.Ala1193Val) c.3557C>T (p.Ala1186Val) c.3551C>T (p.Ala1184Val) c.3506C>T (p.Ala1169Val) c.3497C>T (p.Ala1166Val) c.3473C>T (p.Ala1158Val) c.3467C>T (p.Ala1156Val) c.3440C>T (p.Ala1147Val) c.3434C>T (p.Ala1145Val) c.3428C>T (p.Ala1143Val) c.3389C>T (p.Ala1130Val) c.3377C>T (p.Ala1126Val) c.3320C>T (p.Ala1107Val) c.3296C>T (p.Ala1099Val) c.3290C>T (p.Ala1097Val) c.3272C>T (p.Ala1091Val) c.3218C>T (p.Ala1073Val) c.2525C>T (p.Ala842Val) c.2438C>T (p.Ala813Val) n.3714C>T | dbSNP |
17 | g.39727753T>A | CA499890595 | ERBB2 | c.3477T>A (p.Ala1159=) c.3387T>A (p.Ala1129=) c.2649T>A (p.Ala883=) c.3432T>A (p.Ala1144=) c.*3267T>A (n.*3267T>A) c.*56T>A (n.*56T>A) n.3801T>A c.3615T>A (p.Ala1205=) c.3570T>A (p.Ala1190=) c.3525T>A (p.Ala1175=) c.3594T>A (p.Ala1198=) c.3579T>A (p.Ala1193=) c.3558T>A (p.Ala1186=) c.3552T>A (p.Ala1184=) c.3507T>A (p.Ala1169=) c.3498T>A (p.Ala1166=) c.3474T>A (p.Ala1158=) c.3468T>A (p.Ala1156=) c.3441T>A (p.Ala1147=) c.3435T>A (p.Ala1145=) c.3429T>A (p.Ala1143=) c.3390T>A (p.Ala1130=) c.3378T>A (p.Ala1126=) c.3321T>A (p.Ala1107=) c.3297T>A (p.Ala1099=) c.3291T>A (p.Ala1097=) c.3273T>A (p.Ala1091=) c.3219T>A (p.Ala1073=) c.2526T>A (p.Ala842=) c.2439T>A (p.Ala813=) n.3715T>A | dbSNP |
17 | g.39727753T>C | CA499890596 | ERBB2 | c.3477T>C (p.Ala1159=) c.3387T>C (p.Ala1129=) c.2649T>C (p.Ala883=) c.3432T>C (p.Ala1144=) c.*3267T>C (n.*3267T>C) c.*56T>C (n.*56T>C) n.3801T>C c.3615T>C (p.Ala1205=) c.3570T>C (p.Ala1190=) c.3525T>C (p.Ala1175=) c.3594T>C (p.Ala1198=) c.3579T>C (p.Ala1193=) c.3558T>C (p.Ala1186=) c.3552T>C (p.Ala1184=) c.3507T>C (p.Ala1169=) c.3498T>C (p.Ala1166=) c.3474T>C (p.Ala1158=) c.3468T>C (p.Ala1156=) c.3441T>C (p.Ala1147=) c.3435T>C (p.Ala1145=) c.3429T>C (p.Ala1143=) c.3390T>C (p.Ala1130=) c.3378T>C (p.Ala1126=) c.3321T>C (p.Ala1107=) c.3297T>C (p.Ala1099=) c.3291T>C (p.Ala1097=) c.3273T>C (p.Ala1091=) c.3219T>C (p.Ala1073=) c.2526T>C (p.Ala842=) c.2439T>C (p.Ala813=) n.3715T>C | dbSNP |
17 | g.39727753T>G | CA499890597 | ERBB2 | c.3477T>G (p.Ala1159=) c.3387T>G (p.Ala1129=) c.2649T>G (p.Ala883=) c.3432T>G (p.Ala1144=) c.*3267T>G (n.*3267T>G) c.*56T>G (n.*56T>G) n.3801T>G c.3615T>G (p.Ala1205=) c.3570T>G (p.Ala1190=) c.3525T>G (p.Ala1175=) c.3594T>G (p.Ala1198=) c.3579T>G (p.Ala1193=) c.3558T>G (p.Ala1186=) c.3552T>G (p.Ala1184=) c.3507T>G (p.Ala1169=) c.3498T>G (p.Ala1166=) c.3474T>G (p.Ala1158=) c.3468T>G (p.Ala1156=) c.3441T>G (p.Ala1147=) c.3435T>G (p.Ala1145=) c.3429T>G (p.Ala1143=) c.3390T>G (p.Ala1130=) c.3378T>G (p.Ala1126=) c.3321T>G (p.Ala1107=) c.3297T>G (p.Ala1099=) c.3291T>G (p.Ala1097=) c.3273T>G (p.Ala1091=) c.3219T>G (p.Ala1073=) c.2526T>G (p.Ala842=) c.2439T>G (p.Ala813=) n.3715T>G | |
17 | g.39727754G>A | CA399313013 | ERBB2 | c.3478G>A (p.Ala1160Thr) c.3388G>A (p.Ala1130Thr) c.2650G>A (p.Ala884Thr) c.3433G>A (p.Ala1145Thr) c.*3268G>A (n.*3268G>A) c.*57G>A (n.*57G>A) n.3802G>A c.3616G>A (p.Ala1206Thr) c.3571G>A (p.Ala1191Thr) c.3526G>A (p.Ala1176Thr) c.3595G>A (p.Ala1199Thr) c.3580G>A (p.Ala1194Thr) c.3559G>A (p.Ala1187Thr) c.3553G>A (p.Ala1185Thr) c.3508G>A (p.Ala1170Thr) c.3499G>A (p.Ala1167Thr) c.3475G>A (p.Ala1159Thr) c.3469G>A (p.Ala1157Thr) c.3442G>A (p.Ala1148Thr) c.3436G>A (p.Ala1146Thr) c.3430G>A (p.Ala1144Thr) c.3391G>A (p.Ala1131Thr) c.3379G>A (p.Ala1127Thr) c.3322G>A (p.Ala1108Thr) c.3298G>A (p.Ala1100Thr) c.3292G>A (p.Ala1098Thr) c.3274G>A (p.Ala1092Thr) c.3220G>A (p.Ala1074Thr) c.2527G>A (p.Ala843Thr) c.2440G>A (p.Ala814Thr) n.3716G>A | dbSNP gnomAD v4 |
17 | g.39727754G>C | CA399313017 | ERBB2 | c.3478G>C (p.Ala1160Pro) c.3388G>C (p.Ala1130Pro) c.2650G>C (p.Ala884Pro) c.3433G>C (p.Ala1145Pro) c.*3268G>C (n.*3268G>C) c.*57G>C (n.*57G>C) n.3802G>C c.3616G>C (p.Ala1206Pro) c.3571G>C (p.Ala1191Pro) c.3526G>C (p.Ala1176Pro) c.3595G>C (p.Ala1199Pro) c.3580G>C (p.Ala1194Pro) c.3559G>C (p.Ala1187Pro) c.3553G>C (p.Ala1185Pro) c.3508G>C (p.Ala1170Pro) c.3499G>C (p.Ala1167Pro) c.3475G>C (p.Ala1159Pro) c.3469G>C (p.Ala1157Pro) c.3442G>C (p.Ala1148Pro) c.3436G>C (p.Ala1146Pro) c.3430G>C (p.Ala1144Pro) c.3391G>C (p.Ala1131Pro) c.3379G>C (p.Ala1127Pro) c.3322G>C (p.Ala1108Pro) c.3298G>C (p.Ala1100Pro) c.3292G>C (p.Ala1098Pro) c.3274G>C (p.Ala1092Pro) c.3220G>C (p.Ala1074Pro) c.2527G>C (p.Ala843Pro) c.2440G>C (p.Ala814Pro) n.3716G>C | dbSNP |
17 | g.39727754G>T | CA399313019 | ERBB2 | c.3478G>T (p.Ala1160Ser) c.3388G>T (p.Ala1130Ser) c.2650G>T (p.Ala884Ser) c.3433G>T (p.Ala1145Ser) c.*3268G>T (n.*3268G>T) c.*57G>T (n.*57G>T) n.3802G>T c.3616G>T (p.Ala1206Ser) c.3571G>T (p.Ala1191Ser) c.3526G>T (p.Ala1176Ser) c.3595G>T (p.Ala1199Ser) c.3580G>T (p.Ala1194Ser) c.3559G>T (p.Ala1187Ser) c.3553G>T (p.Ala1185Ser) c.3508G>T (p.Ala1170Ser) c.3499G>T (p.Ala1167Ser) c.3475G>T (p.Ala1159Ser) c.3469G>T (p.Ala1157Ser) c.3442G>T (p.Ala1148Ser) c.3436G>T (p.Ala1146Ser) c.3430G>T (p.Ala1144Ser) c.3391G>T (p.Ala1131Ser) c.3379G>T (p.Ala1127Ser) c.3322G>T (p.Ala1108Ser) c.3298G>T (p.Ala1100Ser) c.3292G>T (p.Ala1098Ser) c.3274G>T (p.Ala1092Ser) c.3220G>T (p.Ala1074Ser) c.2527G>T (p.Ala843Ser) c.2440G>T (p.Ala814Ser) n.3716G>T | dbSNP gnomAD v4 |
17 | g.39727755C>A | CA399313023 | ERBB2 | c.3479C>A (p.Ala1160Asp) c.3389C>A (p.Ala1130Asp) c.2651C>A (p.Ala884Asp) c.3434C>A (p.Ala1145Asp) c.*3269C>A (n.*3269C>A) c.*58C>A (n.*58C>A) n.3803C>A c.3617C>A (p.Ala1206Asp) c.3572C>A (p.Ala1191Asp) c.3527C>A (p.Ala1176Asp) c.3596C>A (p.Ala1199Asp) c.3581C>A (p.Ala1194Asp) c.3560C>A (p.Ala1187Asp) c.3554C>A (p.Ala1185Asp) c.3509C>A (p.Ala1170Asp) c.3500C>A (p.Ala1167Asp) c.3476C>A (p.Ala1159Asp) c.3470C>A (p.Ala1157Asp) c.3443C>A (p.Ala1148Asp) c.3437C>A (p.Ala1146Asp) c.3431C>A (p.Ala1144Asp) c.3392C>A (p.Ala1131Asp) c.3380C>A (p.Ala1127Asp) c.3323C>A (p.Ala1108Asp) c.3299C>A (p.Ala1100Asp) c.3293C>A (p.Ala1098Asp) c.3275C>A (p.Ala1092Asp) c.3221C>A (p.Ala1074Asp) c.2528C>A (p.Ala843Asp) c.2441C>A (p.Ala814Asp) n.3717C>A | dbSNP gnomAD v4 |
17 | g.39727755C>G | CA399313025 | ERBB2 | c.3479C>G (p.Ala1160Gly) c.3389C>G (p.Ala1130Gly) c.2651C>G (p.Ala884Gly) c.3434C>G (p.Ala1145Gly) c.*3269C>G (n.*3269C>G) c.*58C>G (n.*58C>G) n.3803C>G c.3617C>G (p.Ala1206Gly) c.3572C>G (p.Ala1191Gly) c.3527C>G (p.Ala1176Gly) c.3596C>G (p.Ala1199Gly) c.3581C>G (p.Ala1194Gly) c.3560C>G (p.Ala1187Gly) c.3554C>G (p.Ala1185Gly) c.3509C>G (p.Ala1170Gly) c.3500C>G (p.Ala1167Gly) c.3476C>G (p.Ala1159Gly) c.3470C>G (p.Ala1157Gly) c.3443C>G (p.Ala1148Gly) c.3437C>G (p.Ala1146Gly) c.3431C>G (p.Ala1144Gly) c.3392C>G (p.Ala1131Gly) c.3380C>G (p.Ala1127Gly) c.3323C>G (p.Ala1108Gly) c.3299C>G (p.Ala1100Gly) c.3293C>G (p.Ala1098Gly) c.3275C>G (p.Ala1092Gly) c.3221C>G (p.Ala1074Gly) c.2528C>G (p.Ala843Gly) c.2441C>G (p.Ala814Gly) n.3717C>G | dbSNP |
17 | g.39727755C>T | CA399313028 | ERBB2 | c.3479C>T (p.Ala1160Val) c.3389C>T (p.Ala1130Val) c.2651C>T (p.Ala884Val) c.3434C>T (p.Ala1145Val) c.*3269C>T (n.*3269C>T) c.*58C>T (n.*58C>T) n.3803C>T c.3617C>T (p.Ala1206Val) c.3572C>T (p.Ala1191Val) c.3527C>T (p.Ala1176Val) c.3596C>T (p.Ala1199Val) c.3581C>T (p.Ala1194Val) c.3560C>T (p.Ala1187Val) c.3554C>T (p.Ala1185Val) c.3509C>T (p.Ala1170Val) c.3500C>T (p.Ala1167Val) c.3476C>T (p.Ala1159Val) c.3470C>T (p.Ala1157Val) c.3443C>T (p.Ala1148Val) c.3437C>T (p.Ala1146Val) c.3431C>T (p.Ala1144Val) c.3392C>T (p.Ala1131Val) c.3380C>T (p.Ala1127Val) c.3323C>T (p.Ala1108Val) c.3299C>T (p.Ala1100Val) c.3293C>T (p.Ala1098Val) c.3275C>T (p.Ala1092Val) c.3221C>T (p.Ala1074Val) c.2528C>T (p.Ala843Val) c.2441C>T (p.Ala814Val) n.3717C>T | dbSNP gnomAD v4 |
17 | g.39727756C>A | CA499890600 | ERBB2 | c.3480C>A (p.Ala1160=) c.3390C>A (p.Ala1130=) c.2652C>A (p.Ala884=) c.3435C>A (p.Ala1145=) c.*3270C>A (n.*3270C>A) c.*59C>A (n.*59C>A) n.3804C>A c.3618C>A (p.Ala1206=) c.3573C>A (p.Ala1191=) c.3528C>A (p.Ala1176=) c.3597C>A (p.Ala1199=) c.3582C>A (p.Ala1194=) c.3561C>A (p.Ala1187=) c.3555C>A (p.Ala1185=) c.3510C>A (p.Ala1170=) c.3501C>A (p.Ala1167=) c.3477C>A (p.Ala1159=) c.3471C>A (p.Ala1157=) c.3444C>A (p.Ala1148=) c.3438C>A (p.Ala1146=) c.3432C>A (p.Ala1144=) c.3393C>A (p.Ala1131=) c.3381C>A (p.Ala1127=) c.3324C>A (p.Ala1108=) c.3300C>A (p.Ala1100=) c.3294C>A (p.Ala1098=) c.3276C>A (p.Ala1092=) c.3222C>A (p.Ala1074=) c.2529C>A (p.Ala843=) c.2442C>A (p.Ala814=) n.3718C>A | dbSNP |
17 | g.39727756C>G | CA499890601 | ERBB2 | c.3480C>G (p.Ala1160=) c.3390C>G (p.Ala1130=) c.2652C>G (p.Ala884=) c.3435C>G (p.Ala1145=) c.*3270C>G (n.*3270C>G) c.*59C>G (n.*59C>G) n.3804C>G c.3618C>G (p.Ala1206=) c.3573C>G (p.Ala1191=) c.3528C>G (p.Ala1176=) c.3597C>G (p.Ala1199=) c.3582C>G (p.Ala1194=) c.3561C>G (p.Ala1187=) c.3555C>G (p.Ala1185=) c.3510C>G (p.Ala1170=) c.3501C>G (p.Ala1167=) c.3477C>G (p.Ala1159=) c.3471C>G (p.Ala1157=) c.3444C>G (p.Ala1148=) c.3438C>G (p.Ala1146=) c.3432C>G (p.Ala1144=) c.3393C>G (p.Ala1131=) c.3381C>G (p.Ala1127=) c.3324C>G (p.Ala1108=) c.3300C>G (p.Ala1100=) c.3294C>G (p.Ala1098=) c.3276C>G (p.Ala1092=) c.3222C>G (p.Ala1074=) c.2529C>G (p.Ala843=) c.2442C>G (p.Ala814=) n.3718C>G | dbSNP |
17 | g.39727756C>T | CA499890602 | ERBB2 | c.3480C>T (p.Ala1160=) c.3390C>T (p.Ala1130=) c.2652C>T (p.Ala884=) c.3435C>T (p.Ala1145=) c.*3270C>T (n.*3270C>T) c.*59C>T (n.*59C>T) n.3804C>T c.3618C>T (p.Ala1206=) c.3573C>T (p.Ala1191=) c.3528C>T (p.Ala1176=) c.3597C>T (p.Ala1199=) c.3582C>T (p.Ala1194=) c.3561C>T (p.Ala1187=) c.3555C>T (p.Ala1185=) c.3510C>T (p.Ala1170=) c.3501C>T (p.Ala1167=) c.3477C>T (p.Ala1159=) c.3471C>T (p.Ala1157=) c.3444C>T (p.Ala1148=) c.3438C>T (p.Ala1146=) c.3432C>T (p.Ala1144=) c.3393C>T (p.Ala1131=) c.3381C>T (p.Ala1127=) c.3324C>T (p.Ala1108=) c.3300C>T (p.Ala1100=) c.3294C>T (p.Ala1098=) c.3276C>T (p.Ala1092=) c.3222C>T (p.Ala1074=) c.2529C>T (p.Ala843=) c.2442C>T (p.Ala814=) n.3718C>T | dbSNP |
17 | g.39727757C>A | CA499890605 | ERBB2 | c.3481C>A (p.Arg1161=) c.3391C>A (p.Arg1131=) c.2653C>A (p.Arg885=) c.3436C>A (p.Arg1146=) c.*3271C>A (n.*3271C>A) c.*60C>A (n.*60C>A) n.3805C>A c.3619C>A (p.Arg1207=) c.3574C>A (p.Arg1192=) c.3529C>A (p.Arg1177=) c.3598C>A (p.Arg1200=) c.3583C>A (p.Arg1195=) c.3562C>A (p.Arg1188=) c.3556C>A (p.Arg1186=) c.3511C>A (p.Arg1171=) c.3502C>A (p.Arg1168=) c.3478C>A (p.Arg1160=) c.3472C>A (p.Arg1158=) c.3445C>A (p.Arg1149=) c.3439C>A (p.Arg1147=) c.3433C>A (p.Arg1145=) c.3394C>A (p.Arg1132=) c.3382C>A (p.Arg1128=) c.3325C>A (p.Arg1109=) c.3301C>A (p.Arg1101=) c.3295C>A (p.Arg1099=) c.3277C>A (p.Arg1093=) c.3223C>A (p.Arg1075=) c.2530C>A (p.Arg844=) c.2443C>A (p.Arg815=) n.3719C>A | dbSNP gnomAD v4 COSMIC |
17 | g.39727757C= | CA2259229246 | ERBB2 | c.3481C= (p.Arg1161=) c.3391C= (p.Arg1131=) c.2653C= (p.Arg885=) c.3436C= (p.Arg1146=) c.*3271C= (n.*3271C=) c.*60C= (n.*60C=) n.3805C= c.3619C= (p.Arg1207=) c.3574C= (p.Arg1192=) c.3529C= (p.Arg1177=) c.3598C= (p.Arg1200=) c.3583C= (p.Arg1195=) c.3562C= (p.Arg1188=) c.3556C= (p.Arg1186=) c.3511C= (p.Arg1171=) c.3502C= (p.Arg1168=) c.3478C= (p.Arg1160=) c.3472C= (p.Arg1158=) c.3445C= (p.Arg1149=) c.3439C= (p.Arg1147=) c.3433C= (p.Arg1145=) c.3394C= (p.Arg1132=) c.3382C= (p.Arg1128=) c.3325C= (p.Arg1109=) c.3301C= (p.Arg1101=) c.3295C= (p.Arg1099=) c.3277C= (p.Arg1093=) c.3223C= (p.Arg1075=) c.2530C= (p.Arg844=) c.2443C= (p.Arg815=) n.3719C= | |
17 | g.39727757C>G | CA399313032 | ERBB2 | c.3481C>G (p.Arg1161Gly) c.3391C>G (p.Arg1131Gly) c.2653C>G (p.Arg885Gly) c.3436C>G (p.Arg1146Gly) c.*3271C>G (n.*3271C>G) c.*60C>G (n.*60C>G) n.3805C>G c.3619C>G (p.Arg1207Gly) c.3574C>G (p.Arg1192Gly) c.3529C>G (p.Arg1177Gly) c.3598C>G (p.Arg1200Gly) c.3583C>G (p.Arg1195Gly) c.3562C>G (p.Arg1188Gly) c.3556C>G (p.Arg1186Gly) c.3511C>G (p.Arg1171Gly) c.3502C>G (p.Arg1168Gly) c.3478C>G (p.Arg1160Gly) c.3472C>G (p.Arg1158Gly) c.3445C>G (p.Arg1149Gly) c.3439C>G (p.Arg1147Gly) c.3433C>G (p.Arg1145Gly) c.3394C>G (p.Arg1132Gly) c.3382C>G (p.Arg1128Gly) c.3325C>G (p.Arg1109Gly) c.3301C>G (p.Arg1101Gly) c.3295C>G (p.Arg1099Gly) c.3277C>G (p.Arg1093Gly) c.3223C>G (p.Arg1075Gly) c.2530C>G (p.Arg844Gly) c.2443C>G (p.Arg815Gly) n.3719C>G | dbSNP |
17 | g.39727757C>T | CA399313034 | ERBB2 | c.3481C>T (p.Arg1161Ter) c.3391C>T (p.Arg1131Ter) c.2653C>T (p.Arg885Ter) c.3436C>T (p.Arg1146Ter) c.*3271C>T (n.*3271C>T) c.*60C>T (n.*60C>T) n.3805C>T c.3619C>T (p.Arg1207Ter) c.3574C>T (p.Arg1192Ter) c.3529C>T (p.Arg1177Ter) c.3598C>T (p.Arg1200Ter) c.3583C>T (p.Arg1195Ter) c.3562C>T (p.Arg1188Ter) c.3556C>T (p.Arg1186Ter) c.3511C>T (p.Arg1171Ter) c.3502C>T (p.Arg1168Ter) c.3478C>T (p.Arg1160Ter) c.3472C>T (p.Arg1158Ter) c.3445C>T (p.Arg1149Ter) c.3439C>T (p.Arg1147Ter) c.3433C>T (p.Arg1145Ter) c.3394C>T (p.Arg1132Ter) c.3382C>T (p.Arg1128Ter) c.3325C>T (p.Arg1109Ter) c.3301C>T (p.Arg1101Ter) c.3295C>T (p.Arg1099Ter) c.3277C>T (p.Arg1093Ter) c.3223C>T (p.Arg1075Ter) c.2530C>T (p.Arg844Ter) c.2443C>T (p.Arg815Ter) n.3719C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727758G>A | CA158684 | ERBB2 | c.3482G>A (p.Arg1161Gln) c.3392G>A (p.Arg1131Gln) c.2654G>A (p.Arg885Gln) c.3437G>A (p.Arg1146Gln) c.*3272G>A (n.*3272G>A) c.*61G>A (n.*61G>A) n.3806G>A c.3620G>A (p.Arg1207Gln) c.3575G>A (p.Arg1192Gln) c.3530G>A (p.Arg1177Gln) c.3599G>A (p.Arg1200Gln) c.3584G>A (p.Arg1195Gln) c.3563G>A (p.Arg1188Gln) c.3557G>A (p.Arg1186Gln) c.3512G>A (p.Arg1171Gln) c.3503G>A (p.Arg1168Gln) c.3479G>A (p.Arg1160Gln) c.3473G>A (p.Arg1158Gln) c.3446G>A (p.Arg1149Gln) c.3440G>A (p.Arg1147Gln) c.3434G>A (p.Arg1145Gln) c.3395G>A (p.Arg1132Gln) c.3383G>A (p.Arg1128Gln) c.3326G>A (p.Arg1109Gln) c.3302G>A (p.Arg1101Gln) c.3296G>A (p.Arg1099Gln) c.3278G>A (p.Arg1093Gln) c.3224G>A (p.Arg1075Gln) c.2531G>A (p.Arg844Gln) c.2444G>A (p.Arg815Gln) n.3720G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727758G>C | CA399313040 | ERBB2 | c.3482G>C (p.Arg1161Pro) c.3392G>C (p.Arg1131Pro) c.2654G>C (p.Arg885Pro) c.3437G>C (p.Arg1146Pro) c.*3272G>C (n.*3272G>C) c.*61G>C (n.*61G>C) n.3806G>C c.3620G>C (p.Arg1207Pro) c.3575G>C (p.Arg1192Pro) c.3530G>C (p.Arg1177Pro) c.3599G>C (p.Arg1200Pro) c.3584G>C (p.Arg1195Pro) c.3563G>C (p.Arg1188Pro) c.3557G>C (p.Arg1186Pro) c.3512G>C (p.Arg1171Pro) c.3503G>C (p.Arg1168Pro) c.3479G>C (p.Arg1160Pro) c.3473G>C (p.Arg1158Pro) c.3446G>C (p.Arg1149Pro) c.3440G>C (p.Arg1147Pro) c.3434G>C (p.Arg1145Pro) c.3395G>C (p.Arg1132Pro) c.3383G>C (p.Arg1128Pro) c.3326G>C (p.Arg1109Pro) c.3302G>C (p.Arg1101Pro) c.3296G>C (p.Arg1099Pro) c.3278G>C (p.Arg1093Pro) c.3224G>C (p.Arg1075Pro) c.2531G>C (p.Arg844Pro) c.2444G>C (p.Arg815Pro) n.3720G>C | dbSNP |
17 | g.39727758G= | CA2259229247 | ERBB2 | c.3482G= (p.Arg1161=) c.3392G= (p.Arg1131=) c.2654G= (p.Arg885=) c.3437G= (p.Arg1146=) c.*3272G= (n.*3272G=) c.*61G= (n.*61G=) n.3806G= c.3620G= (p.Arg1207=) c.3575G= (p.Arg1192=) c.3530G= (p.Arg1177=) c.3599G= (p.Arg1200=) c.3584G= (p.Arg1195=) c.3563G= (p.Arg1188=) c.3557G= (p.Arg1186=) c.3512G= (p.Arg1171=) c.3503G= (p.Arg1168=) c.3479G= (p.Arg1160=) c.3473G= (p.Arg1158=) c.3446G= (p.Arg1149=) c.3440G= (p.Arg1147=) c.3434G= (p.Arg1145=) c.3395G= (p.Arg1132=) c.3383G= (p.Arg1128=) c.3326G= (p.Arg1109=) c.3302G= (p.Arg1101=) c.3296G= (p.Arg1099=) c.3278G= (p.Arg1093=) c.3224G= (p.Arg1075=) c.2531G= (p.Arg844=) c.2444G= (p.Arg815=) n.3720G= | |
17 | g.39727758G>T | CA399313044 | ERBB2 | c.3482G>T (p.Arg1161Leu) c.3392G>T (p.Arg1131Leu) c.2654G>T (p.Arg885Leu) c.3437G>T (p.Arg1146Leu) c.*3272G>T (n.*3272G>T) c.*61G>T (n.*61G>T) n.3806G>T c.3620G>T (p.Arg1207Leu) c.3575G>T (p.Arg1192Leu) c.3530G>T (p.Arg1177Leu) c.3599G>T (p.Arg1200Leu) c.3584G>T (p.Arg1195Leu) c.3563G>T (p.Arg1188Leu) c.3557G>T (p.Arg1186Leu) c.3512G>T (p.Arg1171Leu) c.3503G>T (p.Arg1168Leu) c.3479G>T (p.Arg1160Leu) c.3473G>T (p.Arg1158Leu) c.3446G>T (p.Arg1149Leu) c.3440G>T (p.Arg1147Leu) c.3434G>T (p.Arg1145Leu) c.3395G>T (p.Arg1132Leu) c.3383G>T (p.Arg1128Leu) c.3326G>T (p.Arg1109Leu) c.3302G>T (p.Arg1101Leu) c.3296G>T (p.Arg1099Leu) c.3278G>T (p.Arg1093Leu) c.3224G>T (p.Arg1075Leu) c.2531G>T (p.Arg844Leu) c.2444G>T (p.Arg815Leu) n.3720G>T | dbSNP |
17 | g.39727759A= | CA2259229248 | ERBB2 | c.3483A= (p.Arg1161=) c.3393A= (p.Arg1131=) c.2655A= (p.Arg885=) c.3438A= (p.Arg1146=) c.*3273A= (n.*3273A=) c.*62A= (n.*62A=) n.3807A= c.3621A= (p.Arg1207=) c.3576A= (p.Arg1192=) c.3531A= (p.Arg1177=) c.3600A= (p.Arg1200=) c.3585A= (p.Arg1195=) c.3564A= (p.Arg1188=) c.3558A= (p.Arg1186=) c.3513A= (p.Arg1171=) c.3504A= (p.Arg1168=) c.3480A= (p.Arg1160=) c.3474A= (p.Arg1158=) c.3447A= (p.Arg1149=) c.3441A= (p.Arg1147=) c.3435A= (p.Arg1145=) c.3396A= (p.Arg1132=) c.3384A= (p.Arg1128=) c.3327A= (p.Arg1109=) c.3303A= (p.Arg1101=) c.3297A= (p.Arg1099=) c.3279A= (p.Arg1093=) c.3225A= (p.Arg1075=) c.2532A= (p.Arg844=) c.2445A= (p.Arg815=) n.3721A= | |
17 | g.39727759A>C | CA499890609 | ERBB2 | c.3483A>C (p.Arg1161=) c.3393A>C (p.Arg1131=) c.2655A>C (p.Arg885=) c.3438A>C (p.Arg1146=) c.*3273A>C (n.*3273A>C) c.*62A>C (n.*62A>C) n.3807A>C c.3621A>C (p.Arg1207=) c.3576A>C (p.Arg1192=) c.3531A>C (p.Arg1177=) c.3600A>C (p.Arg1200=) c.3585A>C (p.Arg1195=) c.3564A>C (p.Arg1188=) c.3558A>C (p.Arg1186=) c.3513A>C (p.Arg1171=) c.3504A>C (p.Arg1168=) c.3480A>C (p.Arg1160=) c.3474A>C (p.Arg1158=) c.3447A>C (p.Arg1149=) c.3441A>C (p.Arg1147=) c.3435A>C (p.Arg1145=) c.3396A>C (p.Arg1132=) c.3384A>C (p.Arg1128=) c.3327A>C (p.Arg1109=) c.3303A>C (p.Arg1101=) c.3297A>C (p.Arg1099=) c.3279A>C (p.Arg1093=) c.3225A>C (p.Arg1075=) c.2532A>C (p.Arg844=) c.2445A>C (p.Arg815=) n.3721A>C | dbSNP |
17 | g.39727759A>G | CA8534571 | ERBB2 | c.3483A>G (p.Arg1161=) c.3393A>G (p.Arg1131=) c.2655A>G (p.Arg885=) c.3438A>G (p.Arg1146=) c.*3273A>G (n.*3273A>G) c.*62A>G (n.*62A>G) n.3807A>G c.3621A>G (p.Arg1207=) c.3576A>G (p.Arg1192=) c.3531A>G (p.Arg1177=) c.3600A>G (p.Arg1200=) c.3585A>G (p.Arg1195=) c.3564A>G (p.Arg1188=) c.3558A>G (p.Arg1186=) c.3513A>G (p.Arg1171=) c.3504A>G (p.Arg1168=) c.3480A>G (p.Arg1160=) c.3474A>G (p.Arg1158=) c.3447A>G (p.Arg1149=) c.3441A>G (p.Arg1147=) c.3435A>G (p.Arg1145=) c.3396A>G (p.Arg1132=) c.3384A>G (p.Arg1128=) c.3327A>G (p.Arg1109=) c.3303A>G (p.Arg1101=) c.3297A>G (p.Arg1099=) c.3279A>G (p.Arg1093=) c.3225A>G (p.Arg1075=) c.2532A>G (p.Arg844=) c.2445A>G (p.Arg815=) n.3721A>G | dbSNP ExAC gnomAD v4 |
17 | g.39727759A>T | CA499890610 | ERBB2 | c.3483A>T (p.Arg1161=) c.3393A>T (p.Arg1131=) c.2655A>T (p.Arg885=) c.3438A>T (p.Arg1146=) c.*3273A>T (n.*3273A>T) c.*62A>T (n.*62A>T) n.3807A>T c.3621A>T (p.Arg1207=) c.3576A>T (p.Arg1192=) c.3531A>T (p.Arg1177=) c.3600A>T (p.Arg1200=) c.3585A>T (p.Arg1195=) c.3564A>T (p.Arg1188=) c.3558A>T (p.Arg1186=) c.3513A>T (p.Arg1171=) c.3504A>T (p.Arg1168=) c.3480A>T (p.Arg1160=) c.3474A>T (p.Arg1158=) c.3447A>T (p.Arg1149=) c.3441A>T (p.Arg1147=) c.3435A>T (p.Arg1145=) c.3396A>T (p.Arg1132=) c.3384A>T (p.Arg1128=) c.3327A>T (p.Arg1109=) c.3303A>T (p.Arg1101=) c.3297A>T (p.Arg1099=) c.3279A>T (p.Arg1093=) c.3225A>T (p.Arg1075=) c.2532A>T (p.Arg844=) c.2445A>T (p.Arg815=) n.3721A>T | dbSNP |
17 | g.39727760C>A | CA399313051 | ERBB2 | c.3484C>A (p.Pro1162Thr) c.3394C>A (p.Pro1132Thr) c.2656C>A (p.Pro886Thr) c.3439C>A (p.Pro1147Thr) c.*3274C>A (n.*3274C>A) c.*63C>A (n.*63C>A) n.3808C>A c.3622C>A (p.Pro1208Thr) c.3577C>A (p.Pro1193Thr) c.3532C>A (p.Pro1178Thr) c.3601C>A (p.Pro1201Thr) c.3586C>A (p.Pro1196Thr) c.3565C>A (p.Pro1189Thr) c.3559C>A (p.Pro1187Thr) c.3514C>A (p.Pro1172Thr) c.3505C>A (p.Pro1169Thr) c.3481C>A (p.Pro1161Thr) c.3475C>A (p.Pro1159Thr) c.3448C>A (p.Pro1150Thr) c.3442C>A (p.Pro1148Thr) c.3436C>A (p.Pro1146Thr) c.3397C>A (p.Pro1133Thr) c.3385C>A (p.Pro1129Thr) c.3328C>A (p.Pro1110Thr) c.3304C>A (p.Pro1102Thr) c.3298C>A (p.Pro1100Thr) c.3280C>A (p.Pro1094Thr) c.3226C>A (p.Pro1076Thr) c.2533C>A (p.Pro845Thr) c.2446C>A (p.Pro816Thr) n.3722C>A | gnomAD v4 |
17 | g.39727760C= | CA2259229249 | ERBB2 | c.3484C= (p.Pro1162=) c.3394C= (p.Pro1132=) c.2656C= (p.Pro886=) c.3439C= (p.Pro1147=) c.*3274C= (n.*3274C=) c.*63C= (n.*63C=) n.3808C= c.3622C= (p.Pro1208=) c.3577C= (p.Pro1193=) c.3532C= (p.Pro1178=) c.3601C= (p.Pro1201=) c.3586C= (p.Pro1196=) c.3565C= (p.Pro1189=) c.3559C= (p.Pro1187=) c.3514C= (p.Pro1172=) c.3505C= (p.Pro1169=) c.3481C= (p.Pro1161=) c.3475C= (p.Pro1159=) c.3448C= (p.Pro1150=) c.3442C= (p.Pro1148=) c.3436C= (p.Pro1146=) c.3397C= (p.Pro1133=) c.3385C= (p.Pro1129=) c.3328C= (p.Pro1110=) c.3304C= (p.Pro1102=) c.3298C= (p.Pro1100=) c.3280C= (p.Pro1094=) c.3226C= (p.Pro1076=) c.2533C= (p.Pro845=) c.2446C= (p.Pro816=) n.3722C= | |
17 | g.39727760C>G | CA399313054 | ERBB2 | c.3484C>G (p.Pro1162Ala) c.3394C>G (p.Pro1132Ala) c.2656C>G (p.Pro886Ala) c.3439C>G (p.Pro1147Ala) c.*3274C>G (n.*3274C>G) c.*63C>G (n.*63C>G) n.3808C>G c.3622C>G (p.Pro1208Ala) c.3577C>G (p.Pro1193Ala) c.3532C>G (p.Pro1178Ala) c.3601C>G (p.Pro1201Ala) c.3586C>G (p.Pro1196Ala) c.3565C>G (p.Pro1189Ala) c.3559C>G (p.Pro1187Ala) c.3514C>G (p.Pro1172Ala) c.3505C>G (p.Pro1169Ala) c.3481C>G (p.Pro1161Ala) c.3475C>G (p.Pro1159Ala) c.3448C>G (p.Pro1150Ala) c.3442C>G (p.Pro1148Ala) c.3436C>G (p.Pro1146Ala) c.3397C>G (p.Pro1133Ala) c.3385C>G (p.Pro1129Ala) c.3328C>G (p.Pro1110Ala) c.3304C>G (p.Pro1102Ala) c.3298C>G (p.Pro1100Ala) c.3280C>G (p.Pro1094Ala) c.3226C>G (p.Pro1076Ala) c.2533C>G (p.Pro845Ala) c.2446C>G (p.Pro816Ala) n.3722C>G | dbSNP |
17 | g.39727760C>T | CA8534572 | ERBB2 | c.3484C>T (p.Pro1162Ser) c.3394C>T (p.Pro1132Ser) c.2656C>T (p.Pro886Ser) c.3439C>T (p.Pro1147Ser) c.*3274C>T (n.*3274C>T) c.*63C>T (n.*63C>T) n.3808C>T c.3622C>T (p.Pro1208Ser) c.3577C>T (p.Pro1193Ser) c.3532C>T (p.Pro1178Ser) c.3601C>T (p.Pro1201Ser) c.3586C>T (p.Pro1196Ser) c.3565C>T (p.Pro1189Ser) c.3559C>T (p.Pro1187Ser) c.3514C>T (p.Pro1172Ser) c.3505C>T (p.Pro1169Ser) c.3481C>T (p.Pro1161Ser) c.3475C>T (p.Pro1159Ser) c.3448C>T (p.Pro1150Ser) c.3442C>T (p.Pro1148Ser) c.3436C>T (p.Pro1146Ser) c.3397C>T (p.Pro1133Ser) c.3385C>T (p.Pro1129Ser) c.3328C>T (p.Pro1110Ser) c.3304C>T (p.Pro1102Ser) c.3298C>T (p.Pro1100Ser) c.3280C>T (p.Pro1094Ser) c.3226C>T (p.Pro1076Ser) c.2533C>T (p.Pro845Ser) c.2446C>T (p.Pro816Ser) n.3722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727760_39727761insG | CA2259229250 | ERBB2 | c.3484_3485insG (p.Pro1162ArgfsTer?) c.3394_3395insG (p.Pro1132ArgfsTer?) c.2656_2657insG (p.Pro886ArgfsTer?) c.3439_3440insG (p.Pro1147ArgfsTer?) c.*3274_*3275insG (n.*3274_*3275insG) c.*63_*64insG (n.*63_*64insG) n.3808_3809insG c.3622_3623insG (p.Pro1208ArgfsTer?) c.3577_3578insG (p.Pro1193ArgfsTer?) c.3532_3533insG (p.Pro1178ArgfsTer?) c.3601_3602insG (p.Pro1201ArgfsTer?) c.3586_3587insG (p.Pro1196ArgfsTer?) c.3565_3566insG (p.Pro1189ArgfsTer?) c.3559_3560insG (p.Pro1187ArgfsTer?) c.3514_3515insG (p.Pro1172ArgfsTer?) c.3505_3506insG (p.Pro1169ArgfsTer?) c.3481_3482insG (p.Pro1161ArgfsTer?) c.3475_3476insG (p.Pro1159ArgfsTer?) c.3448_3449insG (p.Pro1150ArgfsTer?) c.3442_3443insG (p.Pro1148ArgfsTer?) c.3436_3437insG (p.Pro1146ArgfsTer?) c.3397_3398insG (p.Pro1133ArgfsTer?) c.3385_3386insG (p.Pro1129ArgfsTer?) c.3328_3329insG (p.Pro1110ArgfsTer?) c.3304_3305insG (p.Pro1102ArgfsTer?) c.3298_3299insG (p.Pro1100ArgfsTer?) c.3280_3281insG (p.Pro1094ArgfsTer?) c.3226_3227insG (p.Pro1076ArgfsTer?) c.2533_2534insG (p.Pro845ArgfsTer?) c.2446_2447insG (p.Pro816ArgfsTer?) n.3722_3723insG | ClinVar dbSNP |
17 | g.39727761C>A | CA399313055 | ERBB2 | c.3485C>A (p.Pro1162His) c.3395C>A (p.Pro1132His) c.2657C>A (p.Pro886His) c.3440C>A (p.Pro1147His) c.*3275C>A (n.*3275C>A) c.*64C>A (n.*64C>A) n.3809C>A c.3623C>A (p.Pro1208His) c.3578C>A (p.Pro1193His) c.3533C>A (p.Pro1178His) c.3602C>A (p.Pro1201His) c.3587C>A (p.Pro1196His) c.3566C>A (p.Pro1189His) c.3560C>A (p.Pro1187His) c.3515C>A (p.Pro1172His) c.3506C>A (p.Pro1169His) c.3482C>A (p.Pro1161His) c.3476C>A (p.Pro1159His) c.3449C>A (p.Pro1150His) c.3443C>A (p.Pro1148His) c.3437C>A (p.Pro1146His) c.3398C>A (p.Pro1133His) c.3386C>A (p.Pro1129His) c.3329C>A (p.Pro1110His) c.3305C>A (p.Pro1102His) c.3299C>A (p.Pro1100His) c.3281C>A (p.Pro1094His) c.3227C>A (p.Pro1076His) c.2534C>A (p.Pro845His) c.2447C>A (p.Pro816His) n.3723C>A | dbSNP gnomAD v4 |
17 | g.39727761C>G | CA399313058 | ERBB2 | c.3485C>G (p.Pro1162Arg) c.3395C>G (p.Pro1132Arg) c.2657C>G (p.Pro886Arg) c.3440C>G (p.Pro1147Arg) c.*3275C>G (n.*3275C>G) c.*64C>G (n.*64C>G) n.3809C>G c.3623C>G (p.Pro1208Arg) c.3578C>G (p.Pro1193Arg) c.3533C>G (p.Pro1178Arg) c.3602C>G (p.Pro1201Arg) c.3587C>G (p.Pro1196Arg) c.3566C>G (p.Pro1189Arg) c.3560C>G (p.Pro1187Arg) c.3515C>G (p.Pro1172Arg) c.3506C>G (p.Pro1169Arg) c.3482C>G (p.Pro1161Arg) c.3476C>G (p.Pro1159Arg) c.3449C>G (p.Pro1150Arg) c.3443C>G (p.Pro1148Arg) c.3437C>G (p.Pro1146Arg) c.3398C>G (p.Pro1133Arg) c.3386C>G (p.Pro1129Arg) c.3329C>G (p.Pro1110Arg) c.3305C>G (p.Pro1102Arg) c.3299C>G (p.Pro1100Arg) c.3281C>G (p.Pro1094Arg) c.3227C>G (p.Pro1076Arg) c.2534C>G (p.Pro845Arg) c.2447C>G (p.Pro816Arg) n.3723C>G | dbSNP |
17 | g.39727761C>T | CA399313060 | ERBB2 | c.3485C>T (p.Pro1162Leu) c.3395C>T (p.Pro1132Leu) c.2657C>T (p.Pro886Leu) c.3440C>T (p.Pro1147Leu) c.*3275C>T (n.*3275C>T) c.*64C>T (n.*64C>T) n.3809C>T c.3623C>T (p.Pro1208Leu) c.3578C>T (p.Pro1193Leu) c.3533C>T (p.Pro1178Leu) c.3602C>T (p.Pro1201Leu) c.3587C>T (p.Pro1196Leu) c.3566C>T (p.Pro1189Leu) c.3560C>T (p.Pro1187Leu) c.3515C>T (p.Pro1172Leu) c.3506C>T (p.Pro1169Leu) c.3482C>T (p.Pro1161Leu) c.3476C>T (p.Pro1159Leu) c.3449C>T (p.Pro1150Leu) c.3443C>T (p.Pro1148Leu) c.3437C>T (p.Pro1146Leu) c.3398C>T (p.Pro1133Leu) c.3386C>T (p.Pro1129Leu) c.3329C>T (p.Pro1110Leu) c.3305C>T (p.Pro1102Leu) c.3299C>T (p.Pro1100Leu) c.3281C>T (p.Pro1094Leu) c.3227C>T (p.Pro1076Leu) c.2534C>T (p.Pro845Leu) c.2447C>T (p.Pro816Leu) n.3723C>T | dbSNP |
17 | g.39727762T>A | CA499890617 | ERBB2 | c.3486T>A (p.Pro1162=) c.3396T>A (p.Pro1132=) c.2658T>A (p.Pro886=) c.3441T>A (p.Pro1147=) c.*3276T>A (n.*3276T>A) c.*65T>A (n.*65T>A) n.3810T>A c.3624T>A (p.Pro1208=) c.3579T>A (p.Pro1193=) c.3534T>A (p.Pro1178=) c.3603T>A (p.Pro1201=) c.3588T>A (p.Pro1196=) c.3567T>A (p.Pro1189=) c.3561T>A (p.Pro1187=) c.3516T>A (p.Pro1172=) c.3507T>A (p.Pro1169=) c.3483T>A (p.Pro1161=) c.3477T>A (p.Pro1159=) c.3450T>A (p.Pro1150=) c.3444T>A (p.Pro1148=) c.3438T>A (p.Pro1146=) c.3399T>A (p.Pro1133=) c.3387T>A (p.Pro1129=) c.3330T>A (p.Pro1110=) c.3306T>A (p.Pro1102=) c.3300T>A (p.Pro1100=) c.3282T>A (p.Pro1094=) c.3228T>A (p.Pro1076=) c.2535T>A (p.Pro845=) c.2448T>A (p.Pro816=) n.3724T>A | dbSNP |
17 | g.39727762T>C | CA499890618 | ERBB2 | c.3486T>C (p.Pro1162=) c.3396T>C (p.Pro1132=) c.2658T>C (p.Pro886=) c.3441T>C (p.Pro1147=) c.*3276T>C (n.*3276T>C) c.*65T>C (n.*65T>C) n.3810T>C c.3624T>C (p.Pro1208=) c.3579T>C (p.Pro1193=) c.3534T>C (p.Pro1178=) c.3603T>C (p.Pro1201=) c.3588T>C (p.Pro1196=) c.3567T>C (p.Pro1189=) c.3561T>C (p.Pro1187=) c.3516T>C (p.Pro1172=) c.3507T>C (p.Pro1169=) c.3483T>C (p.Pro1161=) c.3477T>C (p.Pro1159=) c.3450T>C (p.Pro1150=) c.3444T>C (p.Pro1148=) c.3438T>C (p.Pro1146=) c.3399T>C (p.Pro1133=) c.3387T>C (p.Pro1129=) c.3330T>C (p.Pro1110=) c.3306T>C (p.Pro1102=) c.3300T>C (p.Pro1100=) c.3282T>C (p.Pro1094=) c.3228T>C (p.Pro1076=) c.2535T>C (p.Pro845=) c.2448T>C (p.Pro816=) n.3724T>C | dbSNP |
17 | g.39727762T>G | CA499890620 | ERBB2 | c.3486T>G (p.Pro1162=) c.3396T>G (p.Pro1132=) c.2658T>G (p.Pro886=) c.3441T>G (p.Pro1147=) c.*3276T>G (n.*3276T>G) c.*65T>G (n.*65T>G) n.3810T>G c.3624T>G (p.Pro1208=) c.3579T>G (p.Pro1193=) c.3534T>G (p.Pro1178=) c.3603T>G (p.Pro1201=) c.3588T>G (p.Pro1196=) c.3567T>G (p.Pro1189=) c.3561T>G (p.Pro1187=) c.3516T>G (p.Pro1172=) c.3507T>G (p.Pro1169=) c.3483T>G (p.Pro1161=) c.3477T>G (p.Pro1159=) c.3450T>G (p.Pro1150=) c.3444T>G (p.Pro1148=) c.3438T>G (p.Pro1146=) c.3399T>G (p.Pro1133=) c.3387T>G (p.Pro1129=) c.3330T>G (p.Pro1110=) c.3306T>G (p.Pro1102=) c.3300T>G (p.Pro1100=) c.3282T>G (p.Pro1094=) c.3228T>G (p.Pro1076=) c.2535T>G (p.Pro845=) c.2448T>G (p.Pro816=) n.3724T>G | dbSNP |
17 | g.39727763G>A | CA290443850 | ERBB2 | c.3487G>A (p.Ala1163Thr) c.3397G>A (p.Ala1133Thr) c.2659G>A (p.Ala887Thr) c.3442G>A (p.Ala1148Thr) c.*3277G>A (n.*3277G>A) c.*66G>A (n.*66G>A) n.3811G>A c.3625G>A (p.Ala1209Thr) c.3580G>A (p.Ala1194Thr) c.3535G>A (p.Ala1179Thr) c.3604G>A (p.Ala1202Thr) c.3589G>A (p.Ala1197Thr) c.3568G>A (p.Ala1190Thr) c.3562G>A (p.Ala1188Thr) c.3517G>A (p.Ala1173Thr) c.3508G>A (p.Ala1170Thr) c.3484G>A (p.Ala1162Thr) c.3478G>A (p.Ala1160Thr) c.3451G>A (p.Ala1151Thr) c.3445G>A (p.Ala1149Thr) c.3439G>A (p.Ala1147Thr) c.3400G>A (p.Ala1134Thr) c.3388G>A (p.Ala1130Thr) c.3331G>A (p.Ala1111Thr) c.3307G>A (p.Ala1103Thr) c.3301G>A (p.Ala1101Thr) c.3283G>A (p.Ala1095Thr) c.3229G>A (p.Ala1077Thr) c.2536G>A (p.Ala846Thr) c.2449G>A (p.Ala817Thr) n.3725G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727763G>C | CA399313065 | ERBB2 | c.3487G>C (p.Ala1163Pro) c.3397G>C (p.Ala1133Pro) c.2659G>C (p.Ala887Pro) c.3442G>C (p.Ala1148Pro) c.*3277G>C (n.*3277G>C) c.*66G>C (n.*66G>C) n.3811G>C c.3625G>C (p.Ala1209Pro) c.3580G>C (p.Ala1194Pro) c.3535G>C (p.Ala1179Pro) c.3604G>C (p.Ala1202Pro) c.3589G>C (p.Ala1197Pro) c.3568G>C (p.Ala1190Pro) c.3562G>C (p.Ala1188Pro) c.3517G>C (p.Ala1173Pro) c.3508G>C (p.Ala1170Pro) c.3484G>C (p.Ala1162Pro) c.3478G>C (p.Ala1160Pro) c.3451G>C (p.Ala1151Pro) c.3445G>C (p.Ala1149Pro) c.3439G>C (p.Ala1147Pro) c.3400G>C (p.Ala1134Pro) c.3388G>C (p.Ala1130Pro) c.3331G>C (p.Ala1111Pro) c.3307G>C (p.Ala1103Pro) c.3301G>C (p.Ala1101Pro) c.3283G>C (p.Ala1095Pro) c.3229G>C (p.Ala1077Pro) c.2536G>C (p.Ala846Pro) c.2449G>C (p.Ala817Pro) n.3725G>C | dbSNP |
17 | g.39727763G= | CA2259229251 | ERBB2 | c.3487G= (p.Ala1163=) c.3397G= (p.Ala1133=) c.2659G= (p.Ala887=) c.3442G= (p.Ala1148=) c.*3277G= (n.*3277G=) c.*66G= (n.*66G=) n.3811G= c.3625G= (p.Ala1209=) c.3580G= (p.Ala1194=) c.3535G= (p.Ala1179=) c.3604G= (p.Ala1202=) c.3589G= (p.Ala1197=) c.3568G= (p.Ala1190=) c.3562G= (p.Ala1188=) c.3517G= (p.Ala1173=) c.3508G= (p.Ala1170=) c.3484G= (p.Ala1162=) c.3478G= (p.Ala1160=) c.3451G= (p.Ala1151=) c.3445G= (p.Ala1149=) c.3439G= (p.Ala1147=) c.3400G= (p.Ala1134=) c.3388G= (p.Ala1130=) c.3331G= (p.Ala1111=) c.3307G= (p.Ala1103=) c.3301G= (p.Ala1101=) c.3283G= (p.Ala1095=) c.3229G= (p.Ala1077=) c.2536G= (p.Ala846=) c.2449G= (p.Ala817=) n.3725G= | |
17 | g.39727763G>T | CA399313068 | ERBB2 | c.3487G>T (p.Ala1163Ser) c.3397G>T (p.Ala1133Ser) c.2659G>T (p.Ala887Ser) c.3442G>T (p.Ala1148Ser) c.*3277G>T (n.*3277G>T) c.*66G>T (n.*66G>T) n.3811G>T c.3625G>T (p.Ala1209Ser) c.3580G>T (p.Ala1194Ser) c.3535G>T (p.Ala1179Ser) c.3604G>T (p.Ala1202Ser) c.3589G>T (p.Ala1197Ser) c.3568G>T (p.Ala1190Ser) c.3562G>T (p.Ala1188Ser) c.3517G>T (p.Ala1173Ser) c.3508G>T (p.Ala1170Ser) c.3484G>T (p.Ala1162Ser) c.3478G>T (p.Ala1160Ser) c.3451G>T (p.Ala1151Ser) c.3445G>T (p.Ala1149Ser) c.3439G>T (p.Ala1147Ser) c.3400G>T (p.Ala1134Ser) c.3388G>T (p.Ala1130Ser) c.3331G>T (p.Ala1111Ser) c.3307G>T (p.Ala1103Ser) c.3301G>T (p.Ala1101Ser) c.3283G>T (p.Ala1095Ser) c.3229G>T (p.Ala1077Ser) c.2536G>T (p.Ala846Ser) c.2449G>T (p.Ala817Ser) n.3725G>T | dbSNP |
17 | g.39727764C>A | CA399313071 | ERBB2 | c.3488C>A (p.Ala1163Asp) c.3398C>A (p.Ala1133Asp) c.2660C>A (p.Ala887Asp) c.3443C>A (p.Ala1148Asp) c.*3278C>A (n.*3278C>A) c.*67C>A (n.*67C>A) n.3812C>A c.3626C>A (p.Ala1209Asp) c.3581C>A (p.Ala1194Asp) c.3536C>A (p.Ala1179Asp) c.3605C>A (p.Ala1202Asp) c.3590C>A (p.Ala1197Asp) c.3569C>A (p.Ala1190Asp) c.3563C>A (p.Ala1188Asp) c.3518C>A (p.Ala1173Asp) c.3509C>A (p.Ala1170Asp) c.3485C>A (p.Ala1162Asp) c.3479C>A (p.Ala1160Asp) c.3452C>A (p.Ala1151Asp) c.3446C>A (p.Ala1149Asp) c.3440C>A (p.Ala1147Asp) c.3401C>A (p.Ala1134Asp) c.3389C>A (p.Ala1130Asp) c.3332C>A (p.Ala1111Asp) c.3308C>A (p.Ala1103Asp) c.3302C>A (p.Ala1101Asp) c.3284C>A (p.Ala1095Asp) c.3230C>A (p.Ala1077Asp) c.2537C>A (p.Ala846Asp) c.2450C>A (p.Ala817Asp) n.3726C>A | dbSNP |
17 | g.39727764C>G | CA399313074 | ERBB2 | c.3488C>G (p.Ala1163Gly) c.3398C>G (p.Ala1133Gly) c.2660C>G (p.Ala887Gly) c.3443C>G (p.Ala1148Gly) c.*3278C>G (n.*3278C>G) c.*67C>G (n.*67C>G) n.3812C>G c.3626C>G (p.Ala1209Gly) c.3581C>G (p.Ala1194Gly) c.3536C>G (p.Ala1179Gly) c.3605C>G (p.Ala1202Gly) c.3590C>G (p.Ala1197Gly) c.3569C>G (p.Ala1190Gly) c.3563C>G (p.Ala1188Gly) c.3518C>G (p.Ala1173Gly) c.3509C>G (p.Ala1170Gly) c.3485C>G (p.Ala1162Gly) c.3479C>G (p.Ala1160Gly) c.3452C>G (p.Ala1151Gly) c.3446C>G (p.Ala1149Gly) c.3440C>G (p.Ala1147Gly) c.3401C>G (p.Ala1134Gly) c.3389C>G (p.Ala1130Gly) c.3332C>G (p.Ala1111Gly) c.3308C>G (p.Ala1103Gly) c.3302C>G (p.Ala1101Gly) c.3284C>G (p.Ala1095Gly) c.3230C>G (p.Ala1077Gly) c.2537C>G (p.Ala846Gly) c.2450C>G (p.Ala817Gly) n.3726C>G | dbSNP |
17 | g.39727764C>T | CA399313077 | ERBB2 | c.3488C>T (p.Ala1163Val) c.3398C>T (p.Ala1133Val) c.2660C>T (p.Ala887Val) c.3443C>T (p.Ala1148Val) c.*3278C>T (n.*3278C>T) c.*67C>T (n.*67C>T) n.3812C>T c.3626C>T (p.Ala1209Val) c.3581C>T (p.Ala1194Val) c.3536C>T (p.Ala1179Val) c.3605C>T (p.Ala1202Val) c.3590C>T (p.Ala1197Val) c.3569C>T (p.Ala1190Val) c.3563C>T (p.Ala1188Val) c.3518C>T (p.Ala1173Val) c.3509C>T (p.Ala1170Val) c.3485C>T (p.Ala1162Val) c.3479C>T (p.Ala1160Val) c.3452C>T (p.Ala1151Val) c.3446C>T (p.Ala1149Val) c.3440C>T (p.Ala1147Val) c.3401C>T (p.Ala1134Val) c.3389C>T (p.Ala1130Val) c.3332C>T (p.Ala1111Val) c.3308C>T (p.Ala1103Val) c.3302C>T (p.Ala1101Val) c.3284C>T (p.Ala1095Val) c.3230C>T (p.Ala1077Val) c.2537C>T (p.Ala846Val) c.2450C>T (p.Ala817Val) n.3726C>T | dbSNP |
17 | g.39727765T>A | CA499890625 | ERBB2 | c.3489T>A (p.Ala1163=) c.3399T>A (p.Ala1133=) c.2661T>A (p.Ala887=) c.3444T>A (p.Ala1148=) c.*3279T>A (n.*3279T>A) c.*68T>A (n.*68T>A) n.3813T>A c.3627T>A (p.Ala1209=) c.3582T>A (p.Ala1194=) c.3537T>A (p.Ala1179=) c.3606T>A (p.Ala1202=) c.3591T>A (p.Ala1197=) c.3570T>A (p.Ala1190=) c.3564T>A (p.Ala1188=) c.3519T>A (p.Ala1173=) c.3510T>A (p.Ala1170=) c.3486T>A (p.Ala1162=) c.3480T>A (p.Ala1160=) c.3453T>A (p.Ala1151=) c.3447T>A (p.Ala1149=) c.3441T>A (p.Ala1147=) c.3402T>A (p.Ala1134=) c.3390T>A (p.Ala1130=) c.3333T>A (p.Ala1111=) c.3309T>A (p.Ala1103=) c.3303T>A (p.Ala1101=) c.3285T>A (p.Ala1095=) c.3231T>A (p.Ala1077=) c.2538T>A (p.Ala846=) c.2451T>A (p.Ala817=) n.3727T>A | |
17 | g.39727765T>C | CA499890626 | ERBB2 | c.3489T>C (p.Ala1163=) c.3399T>C (p.Ala1133=) c.2661T>C (p.Ala887=) c.3444T>C (p.Ala1148=) c.*3279T>C (n.*3279T>C) c.*68T>C (n.*68T>C) n.3813T>C c.3627T>C (p.Ala1209=) c.3582T>C (p.Ala1194=) c.3537T>C (p.Ala1179=) c.3606T>C (p.Ala1202=) c.3591T>C (p.Ala1197=) c.3570T>C (p.Ala1190=) c.3564T>C (p.Ala1188=) c.3519T>C (p.Ala1173=) c.3510T>C (p.Ala1170=) c.3486T>C (p.Ala1162=) c.3480T>C (p.Ala1160=) c.3453T>C (p.Ala1151=) c.3447T>C (p.Ala1149=) c.3441T>C (p.Ala1147=) c.3402T>C (p.Ala1134=) c.3390T>C (p.Ala1130=) c.3333T>C (p.Ala1111=) c.3309T>C (p.Ala1103=) c.3303T>C (p.Ala1101=) c.3285T>C (p.Ala1095=) c.3231T>C (p.Ala1077=) c.2538T>C (p.Ala846=) c.2451T>C (p.Ala817=) n.3727T>C | |
17 | g.39727765T>G | CA499890627 | ERBB2 | c.3489T>G (p.Ala1163=) c.3399T>G (p.Ala1133=) c.2661T>G (p.Ala887=) c.3444T>G (p.Ala1148=) c.*3279T>G (n.*3279T>G) c.*68T>G (n.*68T>G) n.3813T>G c.3627T>G (p.Ala1209=) c.3582T>G (p.Ala1194=) c.3537T>G (p.Ala1179=) c.3606T>G (p.Ala1202=) c.3591T>G (p.Ala1197=) c.3570T>G (p.Ala1190=) c.3564T>G (p.Ala1188=) c.3519T>G (p.Ala1173=) c.3510T>G (p.Ala1170=) c.3486T>G (p.Ala1162=) c.3480T>G (p.Ala1160=) c.3453T>G (p.Ala1151=) c.3447T>G (p.Ala1149=) c.3441T>G (p.Ala1147=) c.3402T>G (p.Ala1134=) c.3390T>G (p.Ala1130=) c.3333T>G (p.Ala1111=) c.3309T>G (p.Ala1103=) c.3303T>G (p.Ala1101=) c.3285T>G (p.Ala1095=) c.3231T>G (p.Ala1077=) c.2538T>G (p.Ala846=) c.2451T>G (p.Ala817=) n.3727T>G | |
17 | g.39727765dup | CA2576254914 | ERBB2 | c.3489dup (p.Gly1164TrpfsTer?) c.3399dup (p.Gly1134TrpfsTer?) c.2661dup (p.Gly888TrpfsTer?) c.3444dup (p.Gly1149TrpfsTer?) c.*3279dup (n.*3279dup) c.*68dup (n.*68dup) n.3813dup c.3627dup (p.Gly1210TrpfsTer?) c.3582dup (p.Gly1195TrpfsTer?) c.3537dup (p.Gly1180TrpfsTer?) c.3606dup (p.Gly1203TrpfsTer?) c.3591dup (p.Gly1198TrpfsTer?) c.3570dup (p.Gly1191TrpfsTer?) c.3564dup (p.Gly1189TrpfsTer?) c.3519dup (p.Gly1174TrpfsTer?) c.3510dup (p.Gly1171TrpfsTer?) c.3486dup (p.Gly1163TrpfsTer?) c.3480dup (p.Gly1161TrpfsTer?) c.3453dup (p.Gly1152TrpfsTer?) c.3447dup (p.Gly1150TrpfsTer?) c.3441dup (p.Gly1148TrpfsTer?) c.3402dup (p.Gly1135TrpfsTer?) c.3390dup (p.Gly1131TrpfsTer?) c.3333dup (p.Gly1112TrpfsTer?) c.3309dup (p.Gly1104TrpfsTer?) c.3303dup (p.Gly1102TrpfsTer?) c.3285dup (p.Gly1096TrpfsTer?) c.3231dup (p.Gly1078TrpfsTer?) c.2538dup (p.Gly847TrpfsTer?) c.2451dup (p.Gly818TrpfsTer?) n.3727dup | |
17 | g.39727766G>A | CA399313081 | ERBB2 | c.3490G>A (p.Gly1164Ser) c.3400G>A (p.Gly1134Ser) c.2662G>A (p.Gly888Ser) c.3445G>A (p.Gly1149Ser) c.*3280G>A (n.*3280G>A) c.*69G>A (n.*69G>A) n.3814G>A c.3628G>A (p.Gly1210Ser) c.3583G>A (p.Gly1195Ser) c.3538G>A (p.Gly1180Ser) c.3607G>A (p.Gly1203Ser) c.3592G>A (p.Gly1198Ser) c.3571G>A (p.Gly1191Ser) c.3565G>A (p.Gly1189Ser) c.3520G>A (p.Gly1174Ser) c.3511G>A (p.Gly1171Ser) c.3487G>A (p.Gly1163Ser) c.3481G>A (p.Gly1161Ser) c.3454G>A (p.Gly1152Ser) c.3448G>A (p.Gly1150Ser) c.3442G>A (p.Gly1148Ser) c.3403G>A (p.Gly1135Ser) c.3391G>A (p.Gly1131Ser) c.3334G>A (p.Gly1112Ser) c.3310G>A (p.Gly1104Ser) c.3304G>A (p.Gly1102Ser) c.3286G>A (p.Gly1096Ser) c.3232G>A (p.Gly1078Ser) c.2539G>A (p.Gly847Ser) c.2452G>A (p.Gly818Ser) n.3728G>A | dbSNP gnomAD v4 |
17 | g.39727766G>C | CA399313084 | ERBB2 | c.3490G>C (p.Gly1164Arg) c.3400G>C (p.Gly1134Arg) c.2662G>C (p.Gly888Arg) c.3445G>C (p.Gly1149Arg) c.*3280G>C (n.*3280G>C) c.*69G>C (n.*69G>C) n.3814G>C c.3628G>C (p.Gly1210Arg) c.3583G>C (p.Gly1195Arg) c.3538G>C (p.Gly1180Arg) c.3607G>C (p.Gly1203Arg) c.3592G>C (p.Gly1198Arg) c.3571G>C (p.Gly1191Arg) c.3565G>C (p.Gly1189Arg) c.3520G>C (p.Gly1174Arg) c.3511G>C (p.Gly1171Arg) c.3487G>C (p.Gly1163Arg) c.3481G>C (p.Gly1161Arg) c.3454G>C (p.Gly1152Arg) c.3448G>C (p.Gly1150Arg) c.3442G>C (p.Gly1148Arg) c.3403G>C (p.Gly1135Arg) c.3391G>C (p.Gly1131Arg) c.3334G>C (p.Gly1112Arg) c.3310G>C (p.Gly1104Arg) c.3304G>C (p.Gly1102Arg) c.3286G>C (p.Gly1096Arg) c.3232G>C (p.Gly1078Arg) c.2539G>C (p.Gly847Arg) c.2452G>C (p.Gly818Arg) n.3728G>C | gnomAD v4 |
17 | g.39727766G>T | CA399313087 | ERBB2 | c.3490G>T (p.Gly1164Cys) c.3400G>T (p.Gly1134Cys) c.2662G>T (p.Gly888Cys) c.3445G>T (p.Gly1149Cys) c.*3280G>T (n.*3280G>T) c.*69G>T (n.*69G>T) n.3814G>T c.3628G>T (p.Gly1210Cys) c.3583G>T (p.Gly1195Cys) c.3538G>T (p.Gly1180Cys) c.3607G>T (p.Gly1203Cys) c.3592G>T (p.Gly1198Cys) c.3571G>T (p.Gly1191Cys) c.3565G>T (p.Gly1189Cys) c.3520G>T (p.Gly1174Cys) c.3511G>T (p.Gly1171Cys) c.3487G>T (p.Gly1163Cys) c.3481G>T (p.Gly1161Cys) c.3454G>T (p.Gly1152Cys) c.3448G>T (p.Gly1150Cys) c.3442G>T (p.Gly1148Cys) c.3403G>T (p.Gly1135Cys) c.3391G>T (p.Gly1131Cys) c.3334G>T (p.Gly1112Cys) c.3310G>T (p.Gly1104Cys) c.3304G>T (p.Gly1102Cys) c.3286G>T (p.Gly1096Cys) c.3232G>T (p.Gly1078Cys) c.2539G>T (p.Gly847Cys) c.2452G>T (p.Gly818Cys) n.3728G>T | |
17 | g.39727767G>A | CA399313094 | ERBB2 | c.3491G>A (p.Gly1164Asp) c.3401G>A (p.Gly1134Asp) c.2663G>A (p.Gly888Asp) c.3446G>A (p.Gly1149Asp) c.*3281G>A (n.*3281G>A) c.*70G>A (n.*70G>A) n.3815G>A c.3629G>A (p.Gly1210Asp) c.3584G>A (p.Gly1195Asp) c.3539G>A (p.Gly1180Asp) c.3608G>A (p.Gly1203Asp) c.3593G>A (p.Gly1198Asp) c.3572G>A (p.Gly1191Asp) c.3566G>A (p.Gly1189Asp) c.3521G>A (p.Gly1174Asp) c.3512G>A (p.Gly1171Asp) c.3488G>A (p.Gly1163Asp) c.3482G>A (p.Gly1161Asp) c.3455G>A (p.Gly1152Asp) c.3449G>A (p.Gly1150Asp) c.3443G>A (p.Gly1148Asp) c.3404G>A (p.Gly1135Asp) c.3392G>A (p.Gly1131Asp) c.3335G>A (p.Gly1112Asp) c.3311G>A (p.Gly1104Asp) c.3305G>A (p.Gly1102Asp) c.3287G>A (p.Gly1096Asp) c.3233G>A (p.Gly1078Asp) c.2540G>A (p.Gly847Asp) c.2453G>A (p.Gly818Asp) n.3729G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727767G>C | CA399313096 | ERBB2 | c.3491G>C (p.Gly1164Ala) c.3401G>C (p.Gly1134Ala) c.2663G>C (p.Gly888Ala) c.3446G>C (p.Gly1149Ala) c.*3281G>C (n.*3281G>C) c.*70G>C (n.*70G>C) n.3815G>C c.3629G>C (p.Gly1210Ala) c.3584G>C (p.Gly1195Ala) c.3539G>C (p.Gly1180Ala) c.3608G>C (p.Gly1203Ala) c.3593G>C (p.Gly1198Ala) c.3572G>C (p.Gly1191Ala) c.3566G>C (p.Gly1189Ala) c.3521G>C (p.Gly1174Ala) c.3512G>C (p.Gly1171Ala) c.3488G>C (p.Gly1163Ala) c.3482G>C (p.Gly1161Ala) c.3455G>C (p.Gly1152Ala) c.3449G>C (p.Gly1150Ala) c.3443G>C (p.Gly1148Ala) c.3404G>C (p.Gly1135Ala) c.3392G>C (p.Gly1131Ala) c.3335G>C (p.Gly1112Ala) c.3311G>C (p.Gly1104Ala) c.3305G>C (p.Gly1102Ala) c.3287G>C (p.Gly1096Ala) c.3233G>C (p.Gly1078Ala) c.2540G>C (p.Gly847Ala) c.2453G>C (p.Gly818Ala) n.3729G>C | dbSNP |
17 | g.39727767G= | CA2259229252 | ERBB2 | c.3491G= (p.Gly1164=) c.3401G= (p.Gly1134=) c.2663G= (p.Gly888=) c.3446G= (p.Gly1149=) c.*3281G= (n.*3281G=) c.*70G= (n.*70G=) n.3815G= c.3629G= (p.Gly1210=) c.3584G= (p.Gly1195=) c.3539G= (p.Gly1180=) c.3608G= (p.Gly1203=) c.3593G= (p.Gly1198=) c.3572G= (p.Gly1191=) c.3566G= (p.Gly1189=) c.3521G= (p.Gly1174=) c.3512G= (p.Gly1171=) c.3488G= (p.Gly1163=) c.3482G= (p.Gly1161=) c.3455G= (p.Gly1152=) c.3449G= (p.Gly1150=) c.3443G= (p.Gly1148=) c.3404G= (p.Gly1135=) c.3392G= (p.Gly1131=) c.3335G= (p.Gly1112=) c.3311G= (p.Gly1104=) c.3305G= (p.Gly1102=) c.3287G= (p.Gly1096=) c.3233G= (p.Gly1078=) c.2540G= (p.Gly847=) c.2453G= (p.Gly818=) n.3729G= | |
17 | g.39727767G>T | CA399313091 | ERBB2 | c.3491G>T (p.Gly1164Val) c.3401G>T (p.Gly1134Val) c.2663G>T (p.Gly888Val) c.3446G>T (p.Gly1149Val) c.*3281G>T (n.*3281G>T) c.*70G>T (n.*70G>T) n.3815G>T c.3629G>T (p.Gly1210Val) c.3584G>T (p.Gly1195Val) c.3539G>T (p.Gly1180Val) c.3608G>T (p.Gly1203Val) c.3593G>T (p.Gly1198Val) c.3572G>T (p.Gly1191Val) c.3566G>T (p.Gly1189Val) c.3521G>T (p.Gly1174Val) c.3512G>T (p.Gly1171Val) c.3488G>T (p.Gly1163Val) c.3482G>T (p.Gly1161Val) c.3455G>T (p.Gly1152Val) c.3449G>T (p.Gly1150Val) c.3443G>T (p.Gly1148Val) c.3404G>T (p.Gly1135Val) c.3392G>T (p.Gly1131Val) c.3335G>T (p.Gly1112Val) c.3311G>T (p.Gly1104Val) c.3305G>T (p.Gly1102Val) c.3287G>T (p.Gly1096Val) c.3233G>T (p.Gly1078Val) c.2540G>T (p.Gly847Val) c.2453G>T (p.Gly818Val) n.3729G>T | gnomAD v4 |
17 | g.39727768T>A | CA499890629 | ERBB2 | c.3492T>A (p.Gly1164=) c.3402T>A (p.Gly1134=) c.2664T>A (p.Gly888=) c.3447T>A (p.Gly1149=) c.*3282T>A (n.*3282T>A) c.*71T>A (n.*71T>A) n.3816T>A c.3630T>A (p.Gly1210=) c.3585T>A (p.Gly1195=) c.3540T>A (p.Gly1180=) c.3609T>A (p.Gly1203=) c.3594T>A (p.Gly1198=) c.3573T>A (p.Gly1191=) c.3567T>A (p.Gly1189=) c.3522T>A (p.Gly1174=) c.3513T>A (p.Gly1171=) c.3489T>A (p.Gly1163=) c.3483T>A (p.Gly1161=) c.3456T>A (p.Gly1152=) c.3450T>A (p.Gly1150=) c.3444T>A (p.Gly1148=) c.3405T>A (p.Gly1135=) c.3393T>A (p.Gly1131=) c.3336T>A (p.Gly1112=) c.3312T>A (p.Gly1104=) c.3306T>A (p.Gly1102=) c.3288T>A (p.Gly1096=) c.3234T>A (p.Gly1078=) c.2541T>A (p.Gly847=) c.2454T>A (p.Gly818=) n.3730T>A | dbSNP |
17 | g.39727768T>C | CA499890630 | ERBB2 | c.3492T>C (p.Gly1164=) c.3402T>C (p.Gly1134=) c.2664T>C (p.Gly888=) c.3447T>C (p.Gly1149=) c.*3282T>C (n.*3282T>C) c.*71T>C (n.*71T>C) n.3816T>C c.3630T>C (p.Gly1210=) c.3585T>C (p.Gly1195=) c.3540T>C (p.Gly1180=) c.3609T>C (p.Gly1203=) c.3594T>C (p.Gly1198=) c.3573T>C (p.Gly1191=) c.3567T>C (p.Gly1189=) c.3522T>C (p.Gly1174=) c.3513T>C (p.Gly1171=) c.3489T>C (p.Gly1163=) c.3483T>C (p.Gly1161=) c.3456T>C (p.Gly1152=) c.3450T>C (p.Gly1150=) c.3444T>C (p.Gly1148=) c.3405T>C (p.Gly1135=) c.3393T>C (p.Gly1131=) c.3336T>C (p.Gly1112=) c.3312T>C (p.Gly1104=) c.3306T>C (p.Gly1102=) c.3288T>C (p.Gly1096=) c.3234T>C (p.Gly1078=) c.2541T>C (p.Gly847=) c.2454T>C (p.Gly818=) n.3730T>C | dbSNP |
17 | g.39727768T>G | CA499890631 | ERBB2 | c.3492T>G (p.Gly1164=) c.3402T>G (p.Gly1134=) c.2664T>G (p.Gly888=) c.3447T>G (p.Gly1149=) c.*3282T>G (n.*3282T>G) c.*71T>G (n.*71T>G) n.3816T>G c.3630T>G (p.Gly1210=) c.3585T>G (p.Gly1195=) c.3540T>G (p.Gly1180=) c.3609T>G (p.Gly1203=) c.3594T>G (p.Gly1198=) c.3573T>G (p.Gly1191=) c.3567T>G (p.Gly1189=) c.3522T>G (p.Gly1174=) c.3513T>G (p.Gly1171=) c.3489T>G (p.Gly1163=) c.3483T>G (p.Gly1161=) c.3456T>G (p.Gly1152=) c.3450T>G (p.Gly1150=) c.3444T>G (p.Gly1148=) c.3405T>G (p.Gly1135=) c.3393T>G (p.Gly1131=) c.3336T>G (p.Gly1112=) c.3312T>G (p.Gly1104=) c.3306T>G (p.Gly1102=) c.3288T>G (p.Gly1096=) c.3234T>G (p.Gly1078=) c.2541T>G (p.Gly847=) c.2454T>G (p.Gly818=) n.3730T>G | dbSNP |
17 | g.39727769G>A | CA399313100 | ERBB2 | c.3493G>A (p.Ala1165Thr) c.3403G>A (p.Ala1135Thr) c.2665G>A (p.Ala889Thr) c.3448G>A (p.Ala1150Thr) c.*3283G>A (n.*3283G>A) c.*72G>A (n.*72G>A) n.3817G>A c.3631G>A (p.Ala1211Thr) c.3586G>A (p.Ala1196Thr) c.3541G>A (p.Ala1181Thr) c.3610G>A (p.Ala1204Thr) c.3595G>A (p.Ala1199Thr) c.3574G>A (p.Ala1192Thr) c.3568G>A (p.Ala1190Thr) c.3523G>A (p.Ala1175Thr) c.3514G>A (p.Ala1172Thr) c.3490G>A (p.Ala1164Thr) c.3484G>A (p.Ala1162Thr) c.3457G>A (p.Ala1153Thr) c.3451G>A (p.Ala1151Thr) c.3445G>A (p.Ala1149Thr) c.3406G>A (p.Ala1136Thr) c.3394G>A (p.Ala1132Thr) c.3337G>A (p.Ala1113Thr) c.3313G>A (p.Ala1105Thr) c.3307G>A (p.Ala1103Thr) c.3289G>A (p.Ala1097Thr) c.3235G>A (p.Ala1079Thr) c.2542G>A (p.Ala848Thr) c.2455G>A (p.Ala819Thr) n.3731G>A | ClinVar |
17 | g.39727769G>C | CA399313102 | ERBB2 | c.3493G>C (p.Ala1165Pro) c.3403G>C (p.Ala1135Pro) c.2665G>C (p.Ala889Pro) c.3448G>C (p.Ala1150Pro) c.*3283G>C (n.*3283G>C) c.*72G>C (n.*72G>C) n.3817G>C c.3631G>C (p.Ala1211Pro) c.3586G>C (p.Ala1196Pro) c.3541G>C (p.Ala1181Pro) c.3610G>C (p.Ala1204Pro) c.3595G>C (p.Ala1199Pro) c.3574G>C (p.Ala1192Pro) c.3568G>C (p.Ala1190Pro) c.3523G>C (p.Ala1175Pro) c.3514G>C (p.Ala1172Pro) c.3490G>C (p.Ala1164Pro) c.3484G>C (p.Ala1162Pro) c.3457G>C (p.Ala1153Pro) c.3451G>C (p.Ala1151Pro) c.3445G>C (p.Ala1149Pro) c.3406G>C (p.Ala1136Pro) c.3394G>C (p.Ala1132Pro) c.3337G>C (p.Ala1113Pro) c.3313G>C (p.Ala1105Pro) c.3307G>C (p.Ala1103Pro) c.3289G>C (p.Ala1097Pro) c.3235G>C (p.Ala1079Pro) c.2542G>C (p.Ala848Pro) c.2455G>C (p.Ala819Pro) n.3731G>C | dbSNP |
17 | g.39727769G>T | CA399313105 | ERBB2 | c.3493G>T (p.Ala1165Ser) c.3403G>T (p.Ala1135Ser) c.2665G>T (p.Ala889Ser) c.3448G>T (p.Ala1150Ser) c.*3283G>T (n.*3283G>T) c.*72G>T (n.*72G>T) n.3817G>T c.3631G>T (p.Ala1211Ser) c.3586G>T (p.Ala1196Ser) c.3541G>T (p.Ala1181Ser) c.3610G>T (p.Ala1204Ser) c.3595G>T (p.Ala1199Ser) c.3574G>T (p.Ala1192Ser) c.3568G>T (p.Ala1190Ser) c.3523G>T (p.Ala1175Ser) c.3514G>T (p.Ala1172Ser) c.3490G>T (p.Ala1164Ser) c.3484G>T (p.Ala1162Ser) c.3457G>T (p.Ala1153Ser) c.3451G>T (p.Ala1151Ser) c.3445G>T (p.Ala1149Ser) c.3406G>T (p.Ala1136Ser) c.3394G>T (p.Ala1132Ser) c.3337G>T (p.Ala1113Ser) c.3313G>T (p.Ala1105Ser) c.3307G>T (p.Ala1103Ser) c.3289G>T (p.Ala1097Ser) c.3235G>T (p.Ala1079Ser) c.2542G>T (p.Ala848Ser) c.2455G>T (p.Ala819Ser) n.3731G>T | |
17 | g.39727770C>A | CA399313109 | ERBB2 | c.3494C>A (p.Ala1165Asp) c.3404C>A (p.Ala1135Asp) c.2666C>A (p.Ala889Asp) c.3449C>A (p.Ala1150Asp) c.*3284C>A (n.*3284C>A) c.*73C>A (n.*73C>A) n.3818C>A c.3632C>A (p.Ala1211Asp) c.3587C>A (p.Ala1196Asp) c.3542C>A (p.Ala1181Asp) c.3611C>A (p.Ala1204Asp) c.3596C>A (p.Ala1199Asp) c.3575C>A (p.Ala1192Asp) c.3569C>A (p.Ala1190Asp) c.3524C>A (p.Ala1175Asp) c.3515C>A (p.Ala1172Asp) c.3491C>A (p.Ala1164Asp) c.3485C>A (p.Ala1162Asp) c.3458C>A (p.Ala1153Asp) c.3452C>A (p.Ala1151Asp) c.3446C>A (p.Ala1149Asp) c.3407C>A (p.Ala1136Asp) c.3395C>A (p.Ala1132Asp) c.3338C>A (p.Ala1113Asp) c.3314C>A (p.Ala1105Asp) c.3308C>A (p.Ala1103Asp) c.3290C>A (p.Ala1097Asp) c.3236C>A (p.Ala1079Asp) c.2543C>A (p.Ala848Asp) c.2456C>A (p.Ala819Asp) n.3732C>A | dbSNP gnomAD v4 |
17 | g.39727770C>G | CA399313113 | ERBB2 | c.3494C>G (p.Ala1165Gly) c.3404C>G (p.Ala1135Gly) c.2666C>G (p.Ala889Gly) c.3449C>G (p.Ala1150Gly) c.*3284C>G (n.*3284C>G) c.*73C>G (n.*73C>G) n.3818C>G c.3632C>G (p.Ala1211Gly) c.3587C>G (p.Ala1196Gly) c.3542C>G (p.Ala1181Gly) c.3611C>G (p.Ala1204Gly) c.3596C>G (p.Ala1199Gly) c.3575C>G (p.Ala1192Gly) c.3569C>G (p.Ala1190Gly) c.3524C>G (p.Ala1175Gly) c.3515C>G (p.Ala1172Gly) c.3491C>G (p.Ala1164Gly) c.3485C>G (p.Ala1162Gly) c.3458C>G (p.Ala1153Gly) c.3452C>G (p.Ala1151Gly) c.3446C>G (p.Ala1149Gly) c.3407C>G (p.Ala1136Gly) c.3395C>G (p.Ala1132Gly) c.3338C>G (p.Ala1113Gly) c.3314C>G (p.Ala1105Gly) c.3308C>G (p.Ala1103Gly) c.3290C>G (p.Ala1097Gly) c.3236C>G (p.Ala1079Gly) c.2543C>G (p.Ala848Gly) c.2456C>G (p.Ala819Gly) n.3732C>G | dbSNP |
17 | g.39727770C>T | CA399313115 | ERBB2 | c.3494C>T (p.Ala1165Val) c.3404C>T (p.Ala1135Val) c.2666C>T (p.Ala889Val) c.3449C>T (p.Ala1150Val) c.*3284C>T (n.*3284C>T) c.*73C>T (n.*73C>T) n.3818C>T c.3632C>T (p.Ala1211Val) c.3587C>T (p.Ala1196Val) c.3542C>T (p.Ala1181Val) c.3611C>T (p.Ala1204Val) c.3596C>T (p.Ala1199Val) c.3575C>T (p.Ala1192Val) c.3569C>T (p.Ala1190Val) c.3524C>T (p.Ala1175Val) c.3515C>T (p.Ala1172Val) c.3491C>T (p.Ala1164Val) c.3485C>T (p.Ala1162Val) c.3458C>T (p.Ala1153Val) c.3452C>T (p.Ala1151Val) c.3446C>T (p.Ala1149Val) c.3407C>T (p.Ala1136Val) c.3395C>T (p.Ala1132Val) c.3338C>T (p.Ala1113Val) c.3314C>T (p.Ala1105Val) c.3308C>T (p.Ala1103Val) c.3290C>T (p.Ala1097Val) c.3236C>T (p.Ala1079Val) c.2543C>T (p.Ala848Val) c.2456C>T (p.Ala819Val) n.3732C>T | dbSNP gnomAD v4 |
17 | g.39727771C>A | CA499890636 | ERBB2 | c.3495C>A (p.Ala1165=) c.3405C>A (p.Ala1135=) c.2667C>A (p.Ala889=) c.3450C>A (p.Ala1150=) c.*3285C>A (n.*3285C>A) c.*74C>A (n.*74C>A) n.3819C>A c.3633C>A (p.Ala1211=) c.3588C>A (p.Ala1196=) c.3543C>A (p.Ala1181=) c.3612C>A (p.Ala1204=) c.3597C>A (p.Ala1199=) c.3576C>A (p.Ala1192=) c.3570C>A (p.Ala1190=) c.3525C>A (p.Ala1175=) c.3516C>A (p.Ala1172=) c.3492C>A (p.Ala1164=) c.3486C>A (p.Ala1162=) c.3459C>A (p.Ala1153=) c.3453C>A (p.Ala1151=) c.3447C>A (p.Ala1149=) c.3408C>A (p.Ala1136=) c.3396C>A (p.Ala1132=) c.3339C>A (p.Ala1113=) c.3315C>A (p.Ala1105=) c.3309C>A (p.Ala1103=) c.3291C>A (p.Ala1097=) c.3237C>A (p.Ala1079=) c.2544C>A (p.Ala848=) c.2457C>A (p.Ala819=) n.3733C>A | |
17 | g.39727771C>G | CA499890638 | ERBB2 | c.3495C>G (p.Ala1165=) c.3405C>G (p.Ala1135=) c.2667C>G (p.Ala889=) c.3450C>G (p.Ala1150=) c.*3285C>G (n.*3285C>G) c.*74C>G (n.*74C>G) n.3819C>G c.3633C>G (p.Ala1211=) c.3588C>G (p.Ala1196=) c.3543C>G (p.Ala1181=) c.3612C>G (p.Ala1204=) c.3597C>G (p.Ala1199=) c.3576C>G (p.Ala1192=) c.3570C>G (p.Ala1190=) c.3525C>G (p.Ala1175=) c.3516C>G (p.Ala1172=) c.3492C>G (p.Ala1164=) c.3486C>G (p.Ala1162=) c.3459C>G (p.Ala1153=) c.3453C>G (p.Ala1151=) c.3447C>G (p.Ala1149=) c.3408C>G (p.Ala1136=) c.3396C>G (p.Ala1132=) c.3339C>G (p.Ala1113=) c.3315C>G (p.Ala1105=) c.3309C>G (p.Ala1103=) c.3291C>G (p.Ala1097=) c.3237C>G (p.Ala1079=) c.2544C>G (p.Ala848=) c.2457C>G (p.Ala819=) n.3733C>G | dbSNP |
17 | g.39727771C>T | CA499890639 | ERBB2 | c.3495C>T (p.Ala1165=) c.3405C>T (p.Ala1135=) c.2667C>T (p.Ala889=) c.3450C>T (p.Ala1150=) c.*3285C>T (n.*3285C>T) c.*74C>T (n.*74C>T) n.3819C>T c.3633C>T (p.Ala1211=) c.3588C>T (p.Ala1196=) c.3543C>T (p.Ala1181=) c.3612C>T (p.Ala1204=) c.3597C>T (p.Ala1199=) c.3576C>T (p.Ala1192=) c.3570C>T (p.Ala1190=) c.3525C>T (p.Ala1175=) c.3516C>T (p.Ala1172=) c.3492C>T (p.Ala1164=) c.3486C>T (p.Ala1162=) c.3459C>T (p.Ala1153=) c.3453C>T (p.Ala1151=) c.3447C>T (p.Ala1149=) c.3408C>T (p.Ala1136=) c.3396C>T (p.Ala1132=) c.3339C>T (p.Ala1113=) c.3315C>T (p.Ala1105=) c.3309C>T (p.Ala1103=) c.3291C>T (p.Ala1097=) c.3237C>T (p.Ala1079=) c.2544C>T (p.Ala848=) c.2457C>T (p.Ala819=) n.3733C>T | dbSNP |
17 | g.39727772A= | CA2259229253 | ERBB2 | c.3496A= (p.Thr1166=) c.3406A= (p.Thr1136=) c.2668A= (p.Thr890=) c.3451A= (p.Thr1151=) c.*3286A= (n.*3286A=) c.*75A= (n.*75A=) n.3820A= c.3634A= (p.Thr1212=) c.3589A= (p.Thr1197=) c.3544A= (p.Thr1182=) c.3613A= (p.Thr1205=) c.3598A= (p.Thr1200=) c.3577A= (p.Thr1193=) c.3571A= (p.Thr1191=) c.3526A= (p.Thr1176=) c.3517A= (p.Thr1173=) c.3493A= (p.Thr1165=) c.3487A= (p.Thr1163=) c.3460A= (p.Thr1154=) c.3454A= (p.Thr1152=) c.3448A= (p.Thr1150=) c.3409A= (p.Thr1137=) c.3397A= (p.Thr1133=) c.3340A= (p.Thr1114=) c.3316A= (p.Thr1106=) c.3310A= (p.Thr1104=) c.3292A= (p.Thr1098=) c.3238A= (p.Thr1080=) c.2545A= (p.Thr849=) c.2458A= (p.Thr820=) n.3734A= | |
17 | g.39727772A>C | CA399313125 | ERBB2 | c.3496A>C (p.Thr1166Pro) c.3406A>C (p.Thr1136Pro) c.2668A>C (p.Thr890Pro) c.3451A>C (p.Thr1151Pro) c.*3286A>C (n.*3286A>C) c.*75A>C (n.*75A>C) n.3820A>C c.3634A>C (p.Thr1212Pro) c.3589A>C (p.Thr1197Pro) c.3544A>C (p.Thr1182Pro) c.3613A>C (p.Thr1205Pro) c.3598A>C (p.Thr1200Pro) c.3577A>C (p.Thr1193Pro) c.3571A>C (p.Thr1191Pro) c.3526A>C (p.Thr1176Pro) c.3517A>C (p.Thr1173Pro) c.3493A>C (p.Thr1165Pro) c.3487A>C (p.Thr1163Pro) c.3460A>C (p.Thr1154Pro) c.3454A>C (p.Thr1152Pro) c.3448A>C (p.Thr1150Pro) c.3409A>C (p.Thr1137Pro) c.3397A>C (p.Thr1133Pro) c.3340A>C (p.Thr1114Pro) c.3316A>C (p.Thr1106Pro) c.3310A>C (p.Thr1104Pro) c.3292A>C (p.Thr1098Pro) c.3238A>C (p.Thr1080Pro) c.2545A>C (p.Thr849Pro) c.2458A>C (p.Thr820Pro) n.3734A>C | dbSNP |
17 | g.39727772A>G | CA290443856 | ERBB2 | c.3496A>G (p.Thr1166Ala) c.3406A>G (p.Thr1136Ala) c.2668A>G (p.Thr890Ala) c.3451A>G (p.Thr1151Ala) c.*3286A>G (n.*3286A>G) c.*75A>G (n.*75A>G) n.3820A>G c.3634A>G (p.Thr1212Ala) c.3589A>G (p.Thr1197Ala) c.3544A>G (p.Thr1182Ala) c.3613A>G (p.Thr1205Ala) c.3598A>G (p.Thr1200Ala) c.3577A>G (p.Thr1193Ala) c.3571A>G (p.Thr1191Ala) c.3526A>G (p.Thr1176Ala) c.3517A>G (p.Thr1173Ala) c.3493A>G (p.Thr1165Ala) c.3487A>G (p.Thr1163Ala) c.3460A>G (p.Thr1154Ala) c.3454A>G (p.Thr1152Ala) c.3448A>G (p.Thr1150Ala) c.3409A>G (p.Thr1137Ala) c.3397A>G (p.Thr1133Ala) c.3340A>G (p.Thr1114Ala) c.3316A>G (p.Thr1106Ala) c.3310A>G (p.Thr1104Ala) c.3292A>G (p.Thr1098Ala) c.3238A>G (p.Thr1080Ala) c.2545A>G (p.Thr849Ala) c.2458A>G (p.Thr820Ala) n.3734A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727772A>T | CA399313121 | ERBB2 | c.3496A>T (p.Thr1166Ser) c.3406A>T (p.Thr1136Ser) c.2668A>T (p.Thr890Ser) c.3451A>T (p.Thr1151Ser) c.*3286A>T (n.*3286A>T) c.*75A>T (n.*75A>T) n.3820A>T c.3634A>T (p.Thr1212Ser) c.3589A>T (p.Thr1197Ser) c.3544A>T (p.Thr1182Ser) c.3613A>T (p.Thr1205Ser) c.3598A>T (p.Thr1200Ser) c.3577A>T (p.Thr1193Ser) c.3571A>T (p.Thr1191Ser) c.3526A>T (p.Thr1176Ser) c.3517A>T (p.Thr1173Ser) c.3493A>T (p.Thr1165Ser) c.3487A>T (p.Thr1163Ser) c.3460A>T (p.Thr1154Ser) c.3454A>T (p.Thr1152Ser) c.3448A>T (p.Thr1150Ser) c.3409A>T (p.Thr1137Ser) c.3397A>T (p.Thr1133Ser) c.3340A>T (p.Thr1114Ser) c.3316A>T (p.Thr1106Ser) c.3310A>T (p.Thr1104Ser) c.3292A>T (p.Thr1098Ser) c.3238A>T (p.Thr1080Ser) c.2545A>T (p.Thr849Ser) c.2458A>T (p.Thr820Ser) n.3734A>T | dbSNP |
17 | g.39727773C>A | CA399313129 | ERBB2 | c.3497C>A (p.Thr1166Asn) c.3407C>A (p.Thr1136Asn) c.2669C>A (p.Thr890Asn) c.3452C>A (p.Thr1151Asn) c.*3287C>A (n.*3287C>A) c.*76C>A (n.*76C>A) n.3821C>A c.3635C>A (p.Thr1212Asn) c.3590C>A (p.Thr1197Asn) c.3545C>A (p.Thr1182Asn) c.3614C>A (p.Thr1205Asn) c.3599C>A (p.Thr1200Asn) c.3578C>A (p.Thr1193Asn) c.3572C>A (p.Thr1191Asn) c.3527C>A (p.Thr1176Asn) c.3518C>A (p.Thr1173Asn) c.3494C>A (p.Thr1165Asn) c.3488C>A (p.Thr1163Asn) c.3461C>A (p.Thr1154Asn) c.3455C>A (p.Thr1152Asn) c.3449C>A (p.Thr1150Asn) c.3410C>A (p.Thr1137Asn) c.3398C>A (p.Thr1133Asn) c.3341C>A (p.Thr1114Asn) c.3317C>A (p.Thr1106Asn) c.3311C>A (p.Thr1104Asn) c.3293C>A (p.Thr1098Asn) c.3239C>A (p.Thr1080Asn) c.2546C>A (p.Thr849Asn) c.2459C>A (p.Thr820Asn) n.3735C>A | |
17 | g.39727773C>G | CA399313131 | ERBB2 | c.3497C>G (p.Thr1166Ser) c.3407C>G (p.Thr1136Ser) c.2669C>G (p.Thr890Ser) c.3452C>G (p.Thr1151Ser) c.*3287C>G (n.*3287C>G) c.*76C>G (n.*76C>G) n.3821C>G c.3635C>G (p.Thr1212Ser) c.3590C>G (p.Thr1197Ser) c.3545C>G (p.Thr1182Ser) c.3614C>G (p.Thr1205Ser) c.3599C>G (p.Thr1200Ser) c.3578C>G (p.Thr1193Ser) c.3572C>G (p.Thr1191Ser) c.3527C>G (p.Thr1176Ser) c.3518C>G (p.Thr1173Ser) c.3494C>G (p.Thr1165Ser) c.3488C>G (p.Thr1163Ser) c.3461C>G (p.Thr1154Ser) c.3455C>G (p.Thr1152Ser) c.3449C>G (p.Thr1150Ser) c.3410C>G (p.Thr1137Ser) c.3398C>G (p.Thr1133Ser) c.3341C>G (p.Thr1114Ser) c.3317C>G (p.Thr1106Ser) c.3311C>G (p.Thr1104Ser) c.3293C>G (p.Thr1098Ser) c.3239C>G (p.Thr1080Ser) c.2546C>G (p.Thr849Ser) c.2459C>G (p.Thr820Ser) n.3735C>G | dbSNP |
17 | g.39727773C>T | CA399313133 | ERBB2 | c.3497C>T (p.Thr1166Ile) c.3407C>T (p.Thr1136Ile) c.2669C>T (p.Thr890Ile) c.3452C>T (p.Thr1151Ile) c.*3287C>T (n.*3287C>T) c.*76C>T (n.*76C>T) n.3821C>T c.3635C>T (p.Thr1212Ile) c.3590C>T (p.Thr1197Ile) c.3545C>T (p.Thr1182Ile) c.3614C>T (p.Thr1205Ile) c.3599C>T (p.Thr1200Ile) c.3578C>T (p.Thr1193Ile) c.3572C>T (p.Thr1191Ile) c.3527C>T (p.Thr1176Ile) c.3518C>T (p.Thr1173Ile) c.3494C>T (p.Thr1165Ile) c.3488C>T (p.Thr1163Ile) c.3461C>T (p.Thr1154Ile) c.3455C>T (p.Thr1152Ile) c.3449C>T (p.Thr1150Ile) c.3410C>T (p.Thr1137Ile) c.3398C>T (p.Thr1133Ile) c.3341C>T (p.Thr1114Ile) c.3317C>T (p.Thr1106Ile) c.3311C>T (p.Thr1104Ile) c.3293C>T (p.Thr1098Ile) c.3239C>T (p.Thr1080Ile) c.2546C>T (p.Thr849Ile) c.2459C>T (p.Thr820Ile) n.3735C>T | dbSNP |
17 | g.39727774T>A | CA499890645 | ERBB2 | c.3498T>A (p.Thr1166=) c.3408T>A (p.Thr1136=) c.2670T>A (p.Thr890=) c.3453T>A (p.Thr1151=) c.*3288T>A (n.*3288T>A) c.*77T>A (n.*77T>A) n.3822T>A c.3636T>A (p.Thr1212=) c.3591T>A (p.Thr1197=) c.3546T>A (p.Thr1182=) c.3615T>A (p.Thr1205=) c.3600T>A (p.Thr1200=) c.3579T>A (p.Thr1193=) c.3573T>A (p.Thr1191=) c.3528T>A (p.Thr1176=) c.3519T>A (p.Thr1173=) c.3495T>A (p.Thr1165=) c.3489T>A (p.Thr1163=) c.3462T>A (p.Thr1154=) c.3456T>A (p.Thr1152=) c.3450T>A (p.Thr1150=) c.3411T>A (p.Thr1137=) c.3399T>A (p.Thr1133=) c.3342T>A (p.Thr1114=) c.3318T>A (p.Thr1106=) c.3312T>A (p.Thr1104=) c.3294T>A (p.Thr1098=) c.3240T>A (p.Thr1080=) c.2547T>A (p.Thr849=) c.2460T>A (p.Thr820=) n.3736T>A | dbSNP |
17 | g.39727774T>C | CA499890646 | ERBB2 | c.3498T>C (p.Thr1166=) c.3408T>C (p.Thr1136=) c.2670T>C (p.Thr890=) c.3453T>C (p.Thr1151=) c.*3288T>C (n.*3288T>C) c.*77T>C (n.*77T>C) n.3822T>C c.3636T>C (p.Thr1212=) c.3591T>C (p.Thr1197=) c.3546T>C (p.Thr1182=) c.3615T>C (p.Thr1205=) c.3600T>C (p.Thr1200=) c.3579T>C (p.Thr1193=) c.3573T>C (p.Thr1191=) c.3528T>C (p.Thr1176=) c.3519T>C (p.Thr1173=) c.3495T>C (p.Thr1165=) c.3489T>C (p.Thr1163=) c.3462T>C (p.Thr1154=) c.3456T>C (p.Thr1152=) c.3450T>C (p.Thr1150=) c.3411T>C (p.Thr1137=) c.3399T>C (p.Thr1133=) c.3342T>C (p.Thr1114=) c.3318T>C (p.Thr1106=) c.3312T>C (p.Thr1104=) c.3294T>C (p.Thr1098=) c.3240T>C (p.Thr1080=) c.2547T>C (p.Thr849=) c.2460T>C (p.Thr820=) n.3736T>C | dbSNP |
17 | g.39727774T>G | CA499890648 | ERBB2 | c.3498T>G (p.Thr1166=) c.3408T>G (p.Thr1136=) c.2670T>G (p.Thr890=) c.3453T>G (p.Thr1151=) c.*3288T>G (n.*3288T>G) c.*77T>G (n.*77T>G) n.3822T>G c.3636T>G (p.Thr1212=) c.3591T>G (p.Thr1197=) c.3546T>G (p.Thr1182=) c.3615T>G (p.Thr1205=) c.3600T>G (p.Thr1200=) c.3579T>G (p.Thr1193=) c.3573T>G (p.Thr1191=) c.3528T>G (p.Thr1176=) c.3519T>G (p.Thr1173=) c.3495T>G (p.Thr1165=) c.3489T>G (p.Thr1163=) c.3462T>G (p.Thr1154=) c.3456T>G (p.Thr1152=) c.3450T>G (p.Thr1150=) c.3411T>G (p.Thr1137=) c.3399T>G (p.Thr1133=) c.3342T>G (p.Thr1114=) c.3318T>G (p.Thr1106=) c.3312T>G (p.Thr1104=) c.3294T>G (p.Thr1098=) c.3240T>G (p.Thr1080=) c.2547T>G (p.Thr849=) c.2460T>G (p.Thr820=) n.3736T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727774T= | CA2259229254 | ERBB2 | c.3498T= (p.Thr1166=) c.3408T= (p.Thr1136=) c.2670T= (p.Thr890=) c.3453T= (p.Thr1151=) c.*3288T= (n.*3288T=) c.*77T= (n.*77T=) n.3822T= c.3636T= (p.Thr1212=) c.3591T= (p.Thr1197=) c.3546T= (p.Thr1182=) c.3615T= (p.Thr1205=) c.3600T= (p.Thr1200=) c.3579T= (p.Thr1193=) c.3573T= (p.Thr1191=) c.3528T= (p.Thr1176=) c.3519T= (p.Thr1173=) c.3495T= (p.Thr1165=) c.3489T= (p.Thr1163=) c.3462T= (p.Thr1154=) c.3456T= (p.Thr1152=) c.3450T= (p.Thr1150=) c.3411T= (p.Thr1137=) c.3399T= (p.Thr1133=) c.3342T= (p.Thr1114=) c.3318T= (p.Thr1106=) c.3312T= (p.Thr1104=) c.3294T= (p.Thr1098=) c.3240T= (p.Thr1080=) c.2547T= (p.Thr849=) c.2460T= (p.Thr820=) n.3736T= | |
17 | g.39727775C>A | CA399313138 | ERBB2 | c.3499C>A (p.Leu1167Met) c.3409C>A (p.Leu1137Met) c.2671C>A (p.Leu891Met) c.3454C>A (p.Leu1152Met) c.*3289C>A (n.*3289C>A) c.*78C>A (n.*78C>A) n.3823C>A c.3637C>A (p.Leu1213Met) c.3592C>A (p.Leu1198Met) c.3547C>A (p.Leu1183Met) c.3616C>A (p.Leu1206Met) c.3601C>A (p.Leu1201Met) c.3580C>A (p.Leu1194Met) c.3574C>A (p.Leu1192Met) c.3529C>A (p.Leu1177Met) c.3520C>A (p.Leu1174Met) c.3496C>A (p.Leu1166Met) c.3490C>A (p.Leu1164Met) c.3463C>A (p.Leu1155Met) c.3457C>A (p.Leu1153Met) c.3451C>A (p.Leu1151Met) c.3412C>A (p.Leu1138Met) c.3400C>A (p.Leu1134Met) c.3343C>A (p.Leu1115Met) c.3319C>A (p.Leu1107Met) c.3313C>A (p.Leu1105Met) c.3295C>A (p.Leu1099Met) c.3241C>A (p.Leu1081Met) c.2548C>A (p.Leu850Met) c.2461C>A (p.Leu821Met) n.3737C>A | dbSNP |
17 | g.39727775C>G | CA399313142 | ERBB2 | c.3499C>G (p.Leu1167Val) c.3409C>G (p.Leu1137Val) c.2671C>G (p.Leu891Val) c.3454C>G (p.Leu1152Val) c.*3289C>G (n.*3289C>G) c.*78C>G (n.*78C>G) n.3823C>G c.3637C>G (p.Leu1213Val) c.3592C>G (p.Leu1198Val) c.3547C>G (p.Leu1183Val) c.3616C>G (p.Leu1206Val) c.3601C>G (p.Leu1201Val) c.3580C>G (p.Leu1194Val) c.3574C>G (p.Leu1192Val) c.3529C>G (p.Leu1177Val) c.3520C>G (p.Leu1174Val) c.3496C>G (p.Leu1166Val) c.3490C>G (p.Leu1164Val) c.3463C>G (p.Leu1155Val) c.3457C>G (p.Leu1153Val) c.3451C>G (p.Leu1151Val) c.3412C>G (p.Leu1138Val) c.3400C>G (p.Leu1134Val) c.3343C>G (p.Leu1115Val) c.3319C>G (p.Leu1107Val) c.3313C>G (p.Leu1105Val) c.3295C>G (p.Leu1099Val) c.3241C>G (p.Leu1081Val) c.2548C>G (p.Leu850Val) c.2461C>G (p.Leu821Val) n.3737C>G | dbSNP |
17 | g.39727775C>T | CA499890649 | ERBB2 | c.3499C>T (p.Leu1167=) c.3409C>T (p.Leu1137=) c.2671C>T (p.Leu891=) c.3454C>T (p.Leu1152=) c.*3289C>T (n.*3289C>T) c.*78C>T (n.*78C>T) n.3823C>T c.3637C>T (p.Leu1213=) c.3592C>T (p.Leu1198=) c.3547C>T (p.Leu1183=) c.3616C>T (p.Leu1206=) c.3601C>T (p.Leu1201=) c.3580C>T (p.Leu1194=) c.3574C>T (p.Leu1192=) c.3529C>T (p.Leu1177=) c.3520C>T (p.Leu1174=) c.3496C>T (p.Leu1166=) c.3490C>T (p.Leu1164=) c.3463C>T (p.Leu1155=) c.3457C>T (p.Leu1153=) c.3451C>T (p.Leu1151=) c.3412C>T (p.Leu1138=) c.3400C>T (p.Leu1134=) c.3343C>T (p.Leu1115=) c.3319C>T (p.Leu1107=) c.3313C>T (p.Leu1105=) c.3295C>T (p.Leu1099=) c.3241C>T (p.Leu1081=) c.2548C>T (p.Leu850=) c.2461C>T (p.Leu821=) n.3737C>T | dbSNP COSMIC |
17 | g.39727776T>A | CA399313146 | ERBB2 | c.3500T>A (p.Leu1167Gln) c.3410T>A (p.Leu1137Gln) c.2672T>A (p.Leu891Gln) c.3455T>A (p.Leu1152Gln) c.*3290T>A (n.*3290T>A) c.*79T>A (n.*79T>A) n.3824T>A c.3638T>A (p.Leu1213Gln) c.3593T>A (p.Leu1198Gln) c.3548T>A (p.Leu1183Gln) c.3617T>A (p.Leu1206Gln) c.3602T>A (p.Leu1201Gln) c.3581T>A (p.Leu1194Gln) c.3575T>A (p.Leu1192Gln) c.3530T>A (p.Leu1177Gln) c.3521T>A (p.Leu1174Gln) c.3497T>A (p.Leu1166Gln) c.3491T>A (p.Leu1164Gln) c.3464T>A (p.Leu1155Gln) c.3458T>A (p.Leu1153Gln) c.3452T>A (p.Leu1151Gln) c.3413T>A (p.Leu1138Gln) c.3401T>A (p.Leu1134Gln) c.3344T>A (p.Leu1115Gln) c.3320T>A (p.Leu1107Gln) c.3314T>A (p.Leu1105Gln) c.3296T>A (p.Leu1099Gln) c.3242T>A (p.Leu1081Gln) c.2549T>A (p.Leu850Gln) c.2462T>A (p.Leu821Gln) n.3738T>A | |
17 | g.39727776T>C | CA399313152 | ERBB2 | c.3500T>C (p.Leu1167Pro) c.3410T>C (p.Leu1137Pro) c.2672T>C (p.Leu891Pro) c.3455T>C (p.Leu1152Pro) c.*3290T>C (n.*3290T>C) c.*79T>C (n.*79T>C) n.3824T>C c.3638T>C (p.Leu1213Pro) c.3593T>C (p.Leu1198Pro) c.3548T>C (p.Leu1183Pro) c.3617T>C (p.Leu1206Pro) c.3602T>C (p.Leu1201Pro) c.3581T>C (p.Leu1194Pro) c.3575T>C (p.Leu1192Pro) c.3530T>C (p.Leu1177Pro) c.3521T>C (p.Leu1174Pro) c.3497T>C (p.Leu1166Pro) c.3491T>C (p.Leu1164Pro) c.3464T>C (p.Leu1155Pro) c.3458T>C (p.Leu1153Pro) c.3452T>C (p.Leu1151Pro) c.3413T>C (p.Leu1138Pro) c.3401T>C (p.Leu1134Pro) c.3344T>C (p.Leu1115Pro) c.3320T>C (p.Leu1107Pro) c.3314T>C (p.Leu1105Pro) c.3296T>C (p.Leu1099Pro) c.3242T>C (p.Leu1081Pro) c.2549T>C (p.Leu850Pro) c.2462T>C (p.Leu821Pro) n.3738T>C | |
17 | g.39727776T>G | CA399313149 | ERBB2 | c.3500T>G (p.Leu1167Arg) c.3410T>G (p.Leu1137Arg) c.2672T>G (p.Leu891Arg) c.3455T>G (p.Leu1152Arg) c.*3290T>G (n.*3290T>G) c.*79T>G (n.*79T>G) n.3824T>G c.3638T>G (p.Leu1213Arg) c.3593T>G (p.Leu1198Arg) c.3548T>G (p.Leu1183Arg) c.3617T>G (p.Leu1206Arg) c.3602T>G (p.Leu1201Arg) c.3581T>G (p.Leu1194Arg) c.3575T>G (p.Leu1192Arg) c.3530T>G (p.Leu1177Arg) c.3521T>G (p.Leu1174Arg) c.3497T>G (p.Leu1166Arg) c.3491T>G (p.Leu1164Arg) c.3464T>G (p.Leu1155Arg) c.3458T>G (p.Leu1153Arg) c.3452T>G (p.Leu1151Arg) c.3413T>G (p.Leu1138Arg) c.3401T>G (p.Leu1134Arg) c.3344T>G (p.Leu1115Arg) c.3320T>G (p.Leu1107Arg) c.3314T>G (p.Leu1105Arg) c.3296T>G (p.Leu1099Arg) c.3242T>G (p.Leu1081Arg) c.2549T>G (p.Leu850Arg) c.2462T>G (p.Leu821Arg) n.3738T>G | |
17 | g.39727777G>A | CA8534573 | ERBB2 | c.3501G>A (p.Leu1167=) c.3411G>A (p.Leu1137=) c.2673G>A (p.Leu891=) c.3456G>A (p.Leu1152=) c.*3291G>A (n.*3291G>A) c.*80G>A (n.*80G>A) n.3825G>A c.3639G>A (p.Leu1213=) c.3594G>A (p.Leu1198=) c.3549G>A (p.Leu1183=) c.3618G>A (p.Leu1206=) c.3603G>A (p.Leu1201=) c.3582G>A (p.Leu1194=) c.3576G>A (p.Leu1192=) c.3531G>A (p.Leu1177=) c.3522G>A (p.Leu1174=) c.3498G>A (p.Leu1166=) c.3492G>A (p.Leu1164=) c.3465G>A (p.Leu1155=) c.3459G>A (p.Leu1153=) c.3453G>A (p.Leu1151=) c.3414G>A (p.Leu1138=) c.3402G>A (p.Leu1134=) c.3345G>A (p.Leu1115=) c.3321G>A (p.Leu1107=) c.3315G>A (p.Leu1105=) c.3297G>A (p.Leu1099=) c.3243G>A (p.Leu1081=) c.2550G>A (p.Leu850=) c.2463G>A (p.Leu821=) n.3739G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727777G>C | CA499890653 | ERBB2 | c.3501G>C (p.Leu1167=) c.3411G>C (p.Leu1137=) c.2673G>C (p.Leu891=) c.3456G>C (p.Leu1152=) c.*3291G>C (n.*3291G>C) c.*80G>C (n.*80G>C) n.3825G>C c.3639G>C (p.Leu1213=) c.3594G>C (p.Leu1198=) c.3549G>C (p.Leu1183=) c.3618G>C (p.Leu1206=) c.3603G>C (p.Leu1201=) c.3582G>C (p.Leu1194=) c.3576G>C (p.Leu1192=) c.3531G>C (p.Leu1177=) c.3522G>C (p.Leu1174=) c.3498G>C (p.Leu1166=) c.3492G>C (p.Leu1164=) c.3465G>C (p.Leu1155=) c.3459G>C (p.Leu1153=) c.3453G>C (p.Leu1151=) c.3414G>C (p.Leu1138=) c.3402G>C (p.Leu1134=) c.3345G>C (p.Leu1115=) c.3321G>C (p.Leu1107=) c.3315G>C (p.Leu1105=) c.3297G>C (p.Leu1099=) c.3243G>C (p.Leu1081=) c.2550G>C (p.Leu850=) c.2463G>C (p.Leu821=) n.3739G>C | |
17 | g.39727777G= | CA2259229255 | ERBB2 | c.3501G= (p.Leu1167=) c.3411G= (p.Leu1137=) c.2673G= (p.Leu891=) c.3456G= (p.Leu1152=) c.*3291G= (n.*3291G=) c.*80G= (n.*80G=) n.3825G= c.3639G= (p.Leu1213=) c.3594G= (p.Leu1198=) c.3549G= (p.Leu1183=) c.3618G= (p.Leu1206=) c.3603G= (p.Leu1201=) c.3582G= (p.Leu1194=) c.3576G= (p.Leu1192=) c.3531G= (p.Leu1177=) c.3522G= (p.Leu1174=) c.3498G= (p.Leu1166=) c.3492G= (p.Leu1164=) c.3465G= (p.Leu1155=) c.3459G= (p.Leu1153=) c.3453G= (p.Leu1151=) c.3414G= (p.Leu1138=) c.3402G= (p.Leu1134=) c.3345G= (p.Leu1115=) c.3321G= (p.Leu1107=) c.3315G= (p.Leu1105=) c.3297G= (p.Leu1099=) c.3243G= (p.Leu1081=) c.2550G= (p.Leu850=) c.2463G= (p.Leu821=) n.3739G= | |
17 | g.39727777G>T | CA499890654 | ERBB2 | c.3501G>T (p.Leu1167=) c.3411G>T (p.Leu1137=) c.2673G>T (p.Leu891=) c.3456G>T (p.Leu1152=) c.*3291G>T (n.*3291G>T) c.*80G>T (n.*80G>T) n.3825G>T c.3639G>T (p.Leu1213=) c.3594G>T (p.Leu1198=) c.3549G>T (p.Leu1183=) c.3618G>T (p.Leu1206=) c.3603G>T (p.Leu1201=) c.3582G>T (p.Leu1194=) c.3576G>T (p.Leu1192=) c.3531G>T (p.Leu1177=) c.3522G>T (p.Leu1174=) c.3498G>T (p.Leu1166=) c.3492G>T (p.Leu1164=) c.3465G>T (p.Leu1155=) c.3459G>T (p.Leu1153=) c.3453G>T (p.Leu1151=) c.3414G>T (p.Leu1138=) c.3402G>T (p.Leu1134=) c.3345G>T (p.Leu1115=) c.3321G>T (p.Leu1107=) c.3315G>T (p.Leu1105=) c.3297G>T (p.Leu1099=) c.3243G>T (p.Leu1081=) c.2550G>T (p.Leu850=) c.2463G>T (p.Leu821=) n.3739G>T | |
17 | g.39727778G>A | CA399313164 | ERBB2 | c.3502G>A (p.Glu1168Lys) c.3412G>A (p.Glu1138Lys) c.2674G>A (p.Glu892Lys) c.3457G>A (p.Glu1153Lys) c.*3292G>A (n.*3292G>A) c.*81G>A (n.*81G>A) n.3826G>A c.3640G>A (p.Glu1214Lys) c.3595G>A (p.Glu1199Lys) c.3550G>A (p.Glu1184Lys) c.3619G>A (p.Glu1207Lys) c.3604G>A (p.Glu1202Lys) c.3583G>A (p.Glu1195Lys) c.3577G>A (p.Glu1193Lys) c.3532G>A (p.Glu1178Lys) c.3523G>A (p.Glu1175Lys) c.3499G>A (p.Glu1167Lys) c.3493G>A (p.Glu1165Lys) c.3466G>A (p.Glu1156Lys) c.3460G>A (p.Glu1154Lys) c.3454G>A (p.Glu1152Lys) c.3415G>A (p.Glu1139Lys) c.3403G>A (p.Glu1135Lys) c.3346G>A (p.Glu1116Lys) c.3322G>A (p.Glu1108Lys) c.3316G>A (p.Glu1106Lys) c.3298G>A (p.Glu1100Lys) c.3244G>A (p.Glu1082Lys) c.2551G>A (p.Glu851Lys) c.2464G>A (p.Glu822Lys) n.3740G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727778G>C | CA399313160 | ERBB2 | c.3502G>C (p.Glu1168Gln) c.3412G>C (p.Glu1138Gln) c.2674G>C (p.Glu892Gln) c.3457G>C (p.Glu1153Gln) c.*3292G>C (n.*3292G>C) c.*81G>C (n.*81G>C) n.3826G>C c.3640G>C (p.Glu1214Gln) c.3595G>C (p.Glu1199Gln) c.3550G>C (p.Glu1184Gln) c.3619G>C (p.Glu1207Gln) c.3604G>C (p.Glu1202Gln) c.3583G>C (p.Glu1195Gln) c.3577G>C (p.Glu1193Gln) c.3532G>C (p.Glu1178Gln) c.3523G>C (p.Glu1175Gln) c.3499G>C (p.Glu1167Gln) c.3493G>C (p.Glu1165Gln) c.3466G>C (p.Glu1156Gln) c.3460G>C (p.Glu1154Gln) c.3454G>C (p.Glu1152Gln) c.3415G>C (p.Glu1139Gln) c.3403G>C (p.Glu1135Gln) c.3346G>C (p.Glu1116Gln) c.3322G>C (p.Glu1108Gln) c.3316G>C (p.Glu1106Gln) c.3298G>C (p.Glu1100Gln) c.3244G>C (p.Glu1082Gln) c.2551G>C (p.Glu851Gln) c.2464G>C (p.Glu822Gln) n.3740G>C | |
17 | g.39727778G= | CA2259229256 | ERBB2 | c.3502G= (p.Glu1168=) c.3412G= (p.Glu1138=) c.2674G= (p.Glu892=) c.3457G= (p.Glu1153=) c.*3292G= (n.*3292G=) c.*81G= (n.*81G=) n.3826G= c.3640G= (p.Glu1214=) c.3595G= (p.Glu1199=) c.3550G= (p.Glu1184=) c.3619G= (p.Glu1207=) c.3604G= (p.Glu1202=) c.3583G= (p.Glu1195=) c.3577G= (p.Glu1193=) c.3532G= (p.Glu1178=) c.3523G= (p.Glu1175=) c.3499G= (p.Glu1167=) c.3493G= (p.Glu1165=) c.3466G= (p.Glu1156=) c.3460G= (p.Glu1154=) c.3454G= (p.Glu1152=) c.3415G= (p.Glu1139=) c.3403G= (p.Glu1135=) c.3346G= (p.Glu1116=) c.3322G= (p.Glu1108=) c.3316G= (p.Glu1106=) c.3298G= (p.Glu1100=) c.3244G= (p.Glu1082=) c.2551G= (p.Glu851=) c.2464G= (p.Glu822=) n.3740G= | |
17 | g.39727778G>T | CA399313166 | ERBB2 | c.3502G>T (p.Glu1168Ter) c.3412G>T (p.Glu1138Ter) c.2674G>T (p.Glu892Ter) c.3457G>T (p.Glu1153Ter) c.*3292G>T (n.*3292G>T) c.*81G>T (n.*81G>T) n.3826G>T c.3640G>T (p.Glu1214Ter) c.3595G>T (p.Glu1199Ter) c.3550G>T (p.Glu1184Ter) c.3619G>T (p.Glu1207Ter) c.3604G>T (p.Glu1202Ter) c.3583G>T (p.Glu1195Ter) c.3577G>T (p.Glu1193Ter) c.3532G>T (p.Glu1178Ter) c.3523G>T (p.Glu1175Ter) c.3499G>T (p.Glu1167Ter) c.3493G>T (p.Glu1165Ter) c.3466G>T (p.Glu1156Ter) c.3460G>T (p.Glu1154Ter) c.3454G>T (p.Glu1152Ter) c.3415G>T (p.Glu1139Ter) c.3403G>T (p.Glu1135Ter) c.3346G>T (p.Glu1116Ter) c.3322G>T (p.Glu1108Ter) c.3316G>T (p.Glu1106Ter) c.3298G>T (p.Glu1100Ter) c.3244G>T (p.Glu1082Ter) c.2551G>T (p.Glu851Ter) c.2464G>T (p.Glu822Ter) n.3740G>T | dbSNP gnomAD v4 |
17 | g.39727779A>C | CA399313167 | ERBB2 | c.3503A>C (p.Glu1168Ala) c.3413A>C (p.Glu1138Ala) c.2675A>C (p.Glu892Ala) c.3458A>C (p.Glu1153Ala) c.*3293A>C (n.*3293A>C) c.*82A>C (n.*82A>C) n.3827A>C c.3641A>C (p.Glu1214Ala) c.3596A>C (p.Glu1199Ala) c.3551A>C (p.Glu1184Ala) c.3620A>C (p.Glu1207Ala) c.3605A>C (p.Glu1202Ala) c.3584A>C (p.Glu1195Ala) c.3578A>C (p.Glu1193Ala) c.3533A>C (p.Glu1178Ala) c.3524A>C (p.Glu1175Ala) c.3500A>C (p.Glu1167Ala) c.3494A>C (p.Glu1165Ala) c.3467A>C (p.Glu1156Ala) c.3461A>C (p.Glu1154Ala) c.3455A>C (p.Glu1152Ala) c.3416A>C (p.Glu1139Ala) c.3404A>C (p.Glu1135Ala) c.3347A>C (p.Glu1116Ala) c.3323A>C (p.Glu1108Ala) c.3317A>C (p.Glu1106Ala) c.3299A>C (p.Glu1100Ala) c.3245A>C (p.Glu1082Ala) c.2552A>C (p.Glu851Ala) c.2465A>C (p.Glu822Ala) n.3741A>C | |
17 | g.39727779A>G | CA399313168 | ERBB2 | c.3503A>G (p.Glu1168Gly) c.3413A>G (p.Glu1138Gly) c.2675A>G (p.Glu892Gly) c.3458A>G (p.Glu1153Gly) c.*3293A>G (n.*3293A>G) c.*82A>G (n.*82A>G) n.3827A>G c.3641A>G (p.Glu1214Gly) c.3596A>G (p.Glu1199Gly) c.3551A>G (p.Glu1184Gly) c.3620A>G (p.Glu1207Gly) c.3605A>G (p.Glu1202Gly) c.3584A>G (p.Glu1195Gly) c.3578A>G (p.Glu1193Gly) c.3533A>G (p.Glu1178Gly) c.3524A>G (p.Glu1175Gly) c.3500A>G (p.Glu1167Gly) c.3494A>G (p.Glu1165Gly) c.3467A>G (p.Glu1156Gly) c.3461A>G (p.Glu1154Gly) c.3455A>G (p.Glu1152Gly) c.3416A>G (p.Glu1139Gly) c.3404A>G (p.Glu1135Gly) c.3347A>G (p.Glu1116Gly) c.3323A>G (p.Glu1108Gly) c.3317A>G (p.Glu1106Gly) c.3299A>G (p.Glu1100Gly) c.3245A>G (p.Glu1082Gly) c.2552A>G (p.Glu851Gly) c.2465A>G (p.Glu822Gly) n.3741A>G | dbSNP gnomAD v4 |
17 | g.39727779A>T | CA399313169 | ERBB2 | c.3503A>T (p.Glu1168Val) c.3413A>T (p.Glu1138Val) c.2675A>T (p.Glu892Val) c.3458A>T (p.Glu1153Val) c.*3293A>T (n.*3293A>T) c.*82A>T (n.*82A>T) n.3827A>T c.3641A>T (p.Glu1214Val) c.3596A>T (p.Glu1199Val) c.3551A>T (p.Glu1184Val) c.3620A>T (p.Glu1207Val) c.3605A>T (p.Glu1202Val) c.3584A>T (p.Glu1195Val) c.3578A>T (p.Glu1193Val) c.3533A>T (p.Glu1178Val) c.3524A>T (p.Glu1175Val) c.3500A>T (p.Glu1167Val) c.3494A>T (p.Glu1165Val) c.3467A>T (p.Glu1156Val) c.3461A>T (p.Glu1154Val) c.3455A>T (p.Glu1152Val) c.3416A>T (p.Glu1139Val) c.3404A>T (p.Glu1135Val) c.3347A>T (p.Glu1116Val) c.3323A>T (p.Glu1108Val) c.3317A>T (p.Glu1106Val) c.3299A>T (p.Glu1100Val) c.3245A>T (p.Glu1082Val) c.2552A>T (p.Glu851Val) c.2465A>T (p.Glu822Val) n.3741A>T | dbSNP |
17 | g.39727780A>C | CA399313170 | ERBB2 | c.3504A>C (p.Glu1168Asp) c.3414A>C (p.Glu1138Asp) c.2676A>C (p.Glu892Asp) c.3459A>C (p.Glu1153Asp) c.*3294A>C (n.*3294A>C) c.*83A>C (n.*83A>C) n.3828A>C c.3642A>C (p.Glu1214Asp) c.3597A>C (p.Glu1199Asp) c.3552A>C (p.Glu1184Asp) c.3621A>C (p.Glu1207Asp) c.3606A>C (p.Glu1202Asp) c.3585A>C (p.Glu1195Asp) c.3579A>C (p.Glu1193Asp) c.3534A>C (p.Glu1178Asp) c.3525A>C (p.Glu1175Asp) c.3501A>C (p.Glu1167Asp) c.3495A>C (p.Glu1165Asp) c.3468A>C (p.Glu1156Asp) c.3462A>C (p.Glu1154Asp) c.3456A>C (p.Glu1152Asp) c.3417A>C (p.Glu1139Asp) c.3405A>C (p.Glu1135Asp) c.3348A>C (p.Glu1116Asp) c.3324A>C (p.Glu1108Asp) c.3318A>C (p.Glu1106Asp) c.3300A>C (p.Glu1100Asp) c.3246A>C (p.Glu1082Asp) c.2553A>C (p.Glu851Asp) c.2466A>C (p.Glu822Asp) n.3742A>C | dbSNP |
17 | g.39727780A>G | CA499890659 | ERBB2 | c.3504A>G (p.Glu1168=) c.3414A>G (p.Glu1138=) c.2676A>G (p.Glu892=) c.3459A>G (p.Glu1153=) c.*3294A>G (n.*3294A>G) c.*83A>G (n.*83A>G) n.3828A>G c.3642A>G (p.Glu1214=) c.3597A>G (p.Glu1199=) c.3552A>G (p.Glu1184=) c.3621A>G (p.Glu1207=) c.3606A>G (p.Glu1202=) c.3585A>G (p.Glu1195=) c.3579A>G (p.Glu1193=) c.3534A>G (p.Glu1178=) c.3525A>G (p.Glu1175=) c.3501A>G (p.Glu1167=) c.3495A>G (p.Glu1165=) c.3468A>G (p.Glu1156=) c.3462A>G (p.Glu1154=) c.3456A>G (p.Glu1152=) c.3417A>G (p.Glu1139=) c.3405A>G (p.Glu1135=) c.3348A>G (p.Glu1116=) c.3324A>G (p.Glu1108=) c.3318A>G (p.Glu1106=) c.3300A>G (p.Glu1100=) c.3246A>G (p.Glu1082=) c.2553A>G (p.Glu851=) c.2466A>G (p.Glu822=) n.3742A>G | dbSNP |
17 | g.39727780A>T | CA399313171 | ERBB2 | c.3504A>T (p.Glu1168Asp) c.3414A>T (p.Glu1138Asp) c.2676A>T (p.Glu892Asp) c.3459A>T (p.Glu1153Asp) c.*3294A>T (n.*3294A>T) c.*83A>T (n.*83A>T) n.3828A>T c.3642A>T (p.Glu1214Asp) c.3597A>T (p.Glu1199Asp) c.3552A>T (p.Glu1184Asp) c.3621A>T (p.Glu1207Asp) c.3606A>T (p.Glu1202Asp) c.3585A>T (p.Glu1195Asp) c.3579A>T (p.Glu1193Asp) c.3534A>T (p.Glu1178Asp) c.3525A>T (p.Glu1175Asp) c.3501A>T (p.Glu1167Asp) c.3495A>T (p.Glu1165Asp) c.3468A>T (p.Glu1156Asp) c.3462A>T (p.Glu1154Asp) c.3456A>T (p.Glu1152Asp) c.3417A>T (p.Glu1139Asp) c.3405A>T (p.Glu1135Asp) c.3348A>T (p.Glu1116Asp) c.3324A>T (p.Glu1108Asp) c.3318A>T (p.Glu1106Asp) c.3300A>T (p.Glu1100Asp) c.3246A>T (p.Glu1082Asp) c.2553A>T (p.Glu851Asp) c.2466A>T (p.Glu822Asp) n.3742A>T | dbSNP |
17 | g.39727781A= | CA2259229257 | ERBB2 | c.3505A= (p.Arg1169=) c.3415A= (p.Arg1139=) c.2677A= (p.Arg893=) c.3460A= (p.Arg1154=) c.*3295A= (n.*3295A=) c.*84A= (n.*84A=) n.3829A= c.3643A= (p.Arg1215=) c.3598A= (p.Arg1200=) c.3553A= (p.Arg1185=) c.3622A= (p.Arg1208=) c.3607A= (p.Arg1203=) c.3586A= (p.Arg1196=) c.3580A= (p.Arg1194=) c.3535A= (p.Arg1179=) c.3526A= (p.Arg1176=) c.3502A= (p.Arg1168=) c.3496A= (p.Arg1166=) c.3469A= (p.Arg1157=) c.3463A= (p.Arg1155=) c.3457A= (p.Arg1153=) c.3418A= (p.Arg1140=) c.3406A= (p.Arg1136=) c.3349A= (p.Arg1117=) c.3325A= (p.Arg1109=) c.3319A= (p.Arg1107=) c.3301A= (p.Arg1101=) c.3247A= (p.Arg1083=) c.2554A= (p.Arg852=) c.2467A= (p.Arg823=) n.3743A= | |
17 | g.39727781A>C | CA499890660 | ERBB2 | c.3505A>C (p.Arg1169=) c.3415A>C (p.Arg1139=) c.2677A>C (p.Arg893=) c.3460A>C (p.Arg1154=) c.*3295A>C (n.*3295A>C) c.*84A>C (n.*84A>C) n.3829A>C c.3643A>C (p.Arg1215=) c.3598A>C (p.Arg1200=) c.3553A>C (p.Arg1185=) c.3622A>C (p.Arg1208=) c.3607A>C (p.Arg1203=) c.3586A>C (p.Arg1196=) c.3580A>C (p.Arg1194=) c.3535A>C (p.Arg1179=) c.3526A>C (p.Arg1176=) c.3502A>C (p.Arg1168=) c.3496A>C (p.Arg1166=) c.3469A>C (p.Arg1157=) c.3463A>C (p.Arg1155=) c.3457A>C (p.Arg1153=) c.3418A>C (p.Arg1140=) c.3406A>C (p.Arg1136=) c.3349A>C (p.Arg1117=) c.3325A>C (p.Arg1109=) c.3319A>C (p.Arg1107=) c.3301A>C (p.Arg1101=) c.3247A>C (p.Arg1083=) c.2554A>C (p.Arg852=) c.2467A>C (p.Arg823=) n.3743A>C | dbSNP |
17 | g.39727781A>G | CA399313173 | ERBB2 | c.3505A>G (p.Arg1169Gly) c.3415A>G (p.Arg1139Gly) c.2677A>G (p.Arg893Gly) c.3460A>G (p.Arg1154Gly) c.*3295A>G (n.*3295A>G) c.*84A>G (n.*84A>G) n.3829A>G c.3643A>G (p.Arg1215Gly) c.3598A>G (p.Arg1200Gly) c.3553A>G (p.Arg1185Gly) c.3622A>G (p.Arg1208Gly) c.3607A>G (p.Arg1203Gly) c.3586A>G (p.Arg1196Gly) c.3580A>G (p.Arg1194Gly) c.3535A>G (p.Arg1179Gly) c.3526A>G (p.Arg1176Gly) c.3502A>G (p.Arg1168Gly) c.3496A>G (p.Arg1166Gly) c.3469A>G (p.Arg1157Gly) c.3463A>G (p.Arg1155Gly) c.3457A>G (p.Arg1153Gly) c.3418A>G (p.Arg1140Gly) c.3406A>G (p.Arg1136Gly) c.3349A>G (p.Arg1117Gly) c.3325A>G (p.Arg1109Gly) c.3319A>G (p.Arg1107Gly) c.3301A>G (p.Arg1101Gly) c.3247A>G (p.Arg1083Gly) c.2554A>G (p.Arg852Gly) c.2467A>G (p.Arg823Gly) n.3743A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727781A>T | CA399313175 | ERBB2 | c.3505A>T (p.Arg1169Trp) c.3415A>T (p.Arg1139Trp) c.2677A>T (p.Arg893Trp) c.3460A>T (p.Arg1154Trp) c.*3295A>T (n.*3295A>T) c.*84A>T (n.*84A>T) n.3829A>T c.3643A>T (p.Arg1215Trp) c.3598A>T (p.Arg1200Trp) c.3553A>T (p.Arg1185Trp) c.3622A>T (p.Arg1208Trp) c.3607A>T (p.Arg1203Trp) c.3586A>T (p.Arg1196Trp) c.3580A>T (p.Arg1194Trp) c.3535A>T (p.Arg1179Trp) c.3526A>T (p.Arg1176Trp) c.3502A>T (p.Arg1168Trp) c.3496A>T (p.Arg1166Trp) c.3469A>T (p.Arg1157Trp) c.3463A>T (p.Arg1155Trp) c.3457A>T (p.Arg1153Trp) c.3418A>T (p.Arg1140Trp) c.3406A>T (p.Arg1136Trp) c.3349A>T (p.Arg1117Trp) c.3325A>T (p.Arg1109Trp) c.3319A>T (p.Arg1107Trp) c.3301A>T (p.Arg1101Trp) c.3247A>T (p.Arg1083Trp) c.2554A>T (p.Arg852Trp) c.2467A>T (p.Arg823Trp) n.3743A>T | dbSNP |
17 | g.39727782G>A | CA399313179 | ERBB2 | c.3506G>A (p.Arg1169Lys) c.3416G>A (p.Arg1139Lys) c.2678G>A (p.Arg893Lys) c.3461G>A (p.Arg1154Lys) c.*3296G>A (n.*3296G>A) c.*85G>A (n.*85G>A) n.3830G>A c.3644G>A (p.Arg1215Lys) c.3599G>A (p.Arg1200Lys) c.3554G>A (p.Arg1185Lys) c.3623G>A (p.Arg1208Lys) c.3608G>A (p.Arg1203Lys) c.3587G>A (p.Arg1196Lys) c.3581G>A (p.Arg1194Lys) c.3536G>A (p.Arg1179Lys) c.3527G>A (p.Arg1176Lys) c.3503G>A (p.Arg1168Lys) c.3497G>A (p.Arg1166Lys) c.3470G>A (p.Arg1157Lys) c.3464G>A (p.Arg1155Lys) c.3458G>A (p.Arg1153Lys) c.3419G>A (p.Arg1140Lys) c.3407G>A (p.Arg1136Lys) c.3350G>A (p.Arg1117Lys) c.3326G>A (p.Arg1109Lys) c.3320G>A (p.Arg1107Lys) c.3302G>A (p.Arg1101Lys) c.3248G>A (p.Arg1083Lys) c.2555G>A (p.Arg852Lys) c.2468G>A (p.Arg823Lys) n.3744G>A | gnomAD v4 |
17 | g.39727782G>C | CA399313181 | ERBB2 | c.3506G>C (p.Arg1169Thr) c.3416G>C (p.Arg1139Thr) c.2678G>C (p.Arg893Thr) c.3461G>C (p.Arg1154Thr) c.*3296G>C (n.*3296G>C) c.*85G>C (n.*85G>C) n.3830G>C c.3644G>C (p.Arg1215Thr) c.3599G>C (p.Arg1200Thr) c.3554G>C (p.Arg1185Thr) c.3623G>C (p.Arg1208Thr) c.3608G>C (p.Arg1203Thr) c.3587G>C (p.Arg1196Thr) c.3581G>C (p.Arg1194Thr) c.3536G>C (p.Arg1179Thr) c.3527G>C (p.Arg1176Thr) c.3503G>C (p.Arg1168Thr) c.3497G>C (p.Arg1166Thr) c.3470G>C (p.Arg1157Thr) c.3464G>C (p.Arg1155Thr) c.3458G>C (p.Arg1153Thr) c.3419G>C (p.Arg1140Thr) c.3407G>C (p.Arg1136Thr) c.3350G>C (p.Arg1117Thr) c.3326G>C (p.Arg1109Thr) c.3320G>C (p.Arg1107Thr) c.3302G>C (p.Arg1101Thr) c.3248G>C (p.Arg1083Thr) c.2555G>C (p.Arg852Thr) c.2468G>C (p.Arg823Thr) n.3744G>C | |
17 | g.39727782G>T | CA399313185 | ERBB2 | c.3506G>T (p.Arg1169Met) c.3416G>T (p.Arg1139Met) c.2678G>T (p.Arg893Met) c.3461G>T (p.Arg1154Met) c.*3296G>T (n.*3296G>T) c.*85G>T (n.*85G>T) n.3830G>T c.3644G>T (p.Arg1215Met) c.3599G>T (p.Arg1200Met) c.3554G>T (p.Arg1185Met) c.3623G>T (p.Arg1208Met) c.3608G>T (p.Arg1203Met) c.3587G>T (p.Arg1196Met) c.3581G>T (p.Arg1194Met) c.3536G>T (p.Arg1179Met) c.3527G>T (p.Arg1176Met) c.3503G>T (p.Arg1168Met) c.3497G>T (p.Arg1166Met) c.3470G>T (p.Arg1157Met) c.3464G>T (p.Arg1155Met) c.3458G>T (p.Arg1153Met) c.3419G>T (p.Arg1140Met) c.3407G>T (p.Arg1136Met) c.3350G>T (p.Arg1117Met) c.3326G>T (p.Arg1109Met) c.3320G>T (p.Arg1107Met) c.3302G>T (p.Arg1101Met) c.3248G>T (p.Arg1083Met) c.2555G>T (p.Arg852Met) c.2468G>T (p.Arg823Met) n.3744G>T | dbSNP |
17 | g.39727783G>A | CA8534574 | ERBB2 | c.3507G>A (p.Arg1169=) c.3417G>A (p.Arg1139=) c.2679G>A (p.Arg893=) c.3462G>A (p.Arg1154=) c.*3297G>A (n.*3297G>A) c.*86G>A (n.*86G>A) n.3831G>A c.3645G>A (p.Arg1215=) c.3600G>A (p.Arg1200=) c.3555G>A (p.Arg1185=) c.3624G>A (p.Arg1208=) c.3609G>A (p.Arg1203=) c.3588G>A (p.Arg1196=) c.3582G>A (p.Arg1194=) c.3537G>A (p.Arg1179=) c.3528G>A (p.Arg1176=) c.3504G>A (p.Arg1168=) c.3498G>A (p.Arg1166=) c.3471G>A (p.Arg1157=) c.3465G>A (p.Arg1155=) c.3459G>A (p.Arg1153=) c.3420G>A (p.Arg1140=) c.3408G>A (p.Arg1136=) c.3351G>A (p.Arg1117=) c.3327G>A (p.Arg1109=) c.3321G>A (p.Arg1107=) c.3303G>A (p.Arg1101=) c.3249G>A (p.Arg1083=) c.2556G>A (p.Arg852=) c.2469G>A (p.Arg823=) n.3745G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727783G>C | CA399313192 | ERBB2 | c.3507G>C (p.Arg1169Ser) c.3417G>C (p.Arg1139Ser) c.2679G>C (p.Arg893Ser) c.3462G>C (p.Arg1154Ser) c.*3297G>C (n.*3297G>C) c.*86G>C (n.*86G>C) n.3831G>C c.3645G>C (p.Arg1215Ser) c.3600G>C (p.Arg1200Ser) c.3555G>C (p.Arg1185Ser) c.3624G>C (p.Arg1208Ser) c.3609G>C (p.Arg1203Ser) c.3588G>C (p.Arg1196Ser) c.3582G>C (p.Arg1194Ser) c.3537G>C (p.Arg1179Ser) c.3528G>C (p.Arg1176Ser) c.3504G>C (p.Arg1168Ser) c.3498G>C (p.Arg1166Ser) c.3471G>C (p.Arg1157Ser) c.3465G>C (p.Arg1155Ser) c.3459G>C (p.Arg1153Ser) c.3420G>C (p.Arg1140Ser) c.3408G>C (p.Arg1136Ser) c.3351G>C (p.Arg1117Ser) c.3327G>C (p.Arg1109Ser) c.3321G>C (p.Arg1107Ser) c.3303G>C (p.Arg1101Ser) c.3249G>C (p.Arg1083Ser) c.2556G>C (p.Arg852Ser) c.2469G>C (p.Arg823Ser) n.3745G>C | dbSNP |
17 | g.39727783G= | CA2259229258 | ERBB2 | c.3507G= (p.Arg1169=) c.3417G= (p.Arg1139=) c.2679G= (p.Arg893=) c.3462G= (p.Arg1154=) c.*3297G= (n.*3297G=) c.*86G= (n.*86G=) n.3831G= c.3645G= (p.Arg1215=) c.3600G= (p.Arg1200=) c.3555G= (p.Arg1185=) c.3624G= (p.Arg1208=) c.3609G= (p.Arg1203=) c.3588G= (p.Arg1196=) c.3582G= (p.Arg1194=) c.3537G= (p.Arg1179=) c.3528G= (p.Arg1176=) c.3504G= (p.Arg1168=) c.3498G= (p.Arg1166=) c.3471G= (p.Arg1157=) c.3465G= (p.Arg1155=) c.3459G= (p.Arg1153=) c.3420G= (p.Arg1140=) c.3408G= (p.Arg1136=) c.3351G= (p.Arg1117=) c.3327G= (p.Arg1109=) c.3321G= (p.Arg1107=) c.3303G= (p.Arg1101=) c.3249G= (p.Arg1083=) c.2556G= (p.Arg852=) c.2469G= (p.Arg823=) n.3745G= | |
17 | g.39727783G>T | CA399313190 | ERBB2 | c.3507G>T (p.Arg1169Ser) c.3417G>T (p.Arg1139Ser) c.2679G>T (p.Arg893Ser) c.3462G>T (p.Arg1154Ser) c.*3297G>T (n.*3297G>T) c.*86G>T (n.*86G>T) n.3831G>T c.3645G>T (p.Arg1215Ser) c.3600G>T (p.Arg1200Ser) c.3555G>T (p.Arg1185Ser) c.3624G>T (p.Arg1208Ser) c.3609G>T (p.Arg1203Ser) c.3588G>T (p.Arg1196Ser) c.3582G>T (p.Arg1194Ser) c.3537G>T (p.Arg1179Ser) c.3528G>T (p.Arg1176Ser) c.3504G>T (p.Arg1168Ser) c.3498G>T (p.Arg1166Ser) c.3471G>T (p.Arg1157Ser) c.3465G>T (p.Arg1155Ser) c.3459G>T (p.Arg1153Ser) c.3420G>T (p.Arg1140Ser) c.3408G>T (p.Arg1136Ser) c.3351G>T (p.Arg1117Ser) c.3327G>T (p.Arg1109Ser) c.3321G>T (p.Arg1107Ser) c.3303G>T (p.Arg1101Ser) c.3249G>T (p.Arg1083Ser) c.2556G>T (p.Arg852Ser) c.2469G>T (p.Arg823Ser) n.3745G>T | |
17 | g.39727783_39727784delinsGC | CA2259229259 | ERBB2 | c.3507_3508delinsGC (p.Arg1169=) c.3417_3418delinsGC (p.Arg1139=) c.2679_2680delinsGC (p.Arg893=) c.3462_3463delinsGC (p.Arg1154=) c.*3297_*3298delinsGC (n.*3297_*3298delinsGC) c.*86_*87delinsGC (n.*86_*87delinsGC) n.3831_3832delinsGC c.3645_3646delinsGC (p.Arg1215=) c.3600_3601delinsGC (p.Arg1200=) c.3555_3556delinsGC (p.Arg1185=) c.3624_3625delinsGC (p.Arg1208=) c.3609_3610delinsGC (p.Arg1203=) c.3588_3589delinsGC (p.Arg1196=) c.3582_3583delinsGC (p.Arg1194=) c.3537_3538delinsGC (p.Arg1179=) c.3528_3529delinsGC (p.Arg1176=) c.3504_3505delinsGC (p.Arg1168=) c.3498_3499delinsGC (p.Arg1166=) c.3471_3472delinsGC (p.Arg1157=) c.3465_3466delinsGC (p.Arg1155=) c.3459_3460delinsGC (p.Arg1153=) c.3420_3421delinsGC (p.Arg1140=) c.3408_3409delinsGC (p.Arg1136=) c.3351_3352delinsGC (p.Arg1117=) c.3327_3328delinsGC (p.Arg1109=) c.3321_3322delinsGC (p.Arg1107=) c.3303_3304delinsGC (p.Arg1101=) c.3249_3250delinsGC (p.Arg1083=) c.2556_2557delinsGC (p.Arg852=) c.2469_2470delinsGC (p.Arg823=) n.3745_3746delinsGC | |
17 | g.39727784C>A | CA399313199 | ERBB2 | c.3508C>A (p.Pro1170Thr) c.3418C>A (p.Pro1140Thr) c.2680C>A (p.Pro894Thr) c.3463C>A (p.Pro1155Thr) c.*3298C>A (n.*3298C>A) c.*87C>A (n.*87C>A) n.3832C>A c.3646C>A (p.Pro1216Thr) c.3601C>A (p.Pro1201Thr) c.3556C>A (p.Pro1186Thr) c.3625C>A (p.Pro1209Thr) c.3610C>A (p.Pro1204Thr) c.3589C>A (p.Pro1197Thr) c.3583C>A (p.Pro1195Thr) c.3538C>A (p.Pro1180Thr) c.3529C>A (p.Pro1177Thr) c.3505C>A (p.Pro1169Thr) c.3499C>A (p.Pro1167Thr) c.3472C>A (p.Pro1158Thr) c.3466C>A (p.Pro1156Thr) c.3460C>A (p.Pro1154Thr) c.3421C>A (p.Pro1141Thr) c.3409C>A (p.Pro1137Thr) c.3352C>A (p.Pro1118Thr) c.3328C>A (p.Pro1110Thr) c.3322C>A (p.Pro1108Thr) c.3304C>A (p.Pro1102Thr) c.3250C>A (p.Pro1084Thr) c.2557C>A (p.Pro853Thr) c.2470C>A (p.Pro824Thr) n.3746C>A | dbSNP gnomAD v4 |
17 | g.39727784C= | CA2259229260 | ERBB2 | c.3508C= (p.Pro1170=) c.3418C= (p.Pro1140=) c.2680C= (p.Pro894=) c.3463C= (p.Pro1155=) c.*3298C= (n.*3298C=) c.*87C= (n.*87C=) n.3832C= c.3646C= (p.Pro1216=) c.3601C= (p.Pro1201=) c.3556C= (p.Pro1186=) c.3625C= (p.Pro1209=) c.3610C= (p.Pro1204=) c.3589C= (p.Pro1197=) c.3583C= (p.Pro1195=) c.3538C= (p.Pro1180=) c.3529C= (p.Pro1177=) c.3505C= (p.Pro1169=) c.3499C= (p.Pro1167=) c.3472C= (p.Pro1158=) c.3466C= (p.Pro1156=) c.3460C= (p.Pro1154=) c.3421C= (p.Pro1141=) c.3409C= (p.Pro1137=) c.3352C= (p.Pro1118=) c.3328C= (p.Pro1110=) c.3322C= (p.Pro1108=) c.3304C= (p.Pro1102=) c.3250C= (p.Pro1084=) c.2557C= (p.Pro853=) c.2470C= (p.Pro824=) n.3746C= | |
17 | g.39727784C>G | CA158663 | ERBB2 | c.3508C>G (p.Pro1170Ala) c.3418C>G (p.Pro1140Ala) c.2680C>G (p.Pro894Ala) c.3463C>G (p.Pro1155Ala) c.*3298C>G (n.*3298C>G) c.*87C>G (n.*87C>G) n.3832C>G c.3646C>G (p.Pro1216Ala) c.3601C>G (p.Pro1201Ala) c.3556C>G (p.Pro1186Ala) c.3625C>G (p.Pro1209Ala) c.3610C>G (p.Pro1204Ala) c.3589C>G (p.Pro1197Ala) c.3583C>G (p.Pro1195Ala) c.3538C>G (p.Pro1180Ala) c.3529C>G (p.Pro1177Ala) c.3505C>G (p.Pro1169Ala) c.3499C>G (p.Pro1167Ala) c.3472C>G (p.Pro1158Ala) c.3466C>G (p.Pro1156Ala) c.3460C>G (p.Pro1154Ala) c.3421C>G (p.Pro1141Ala) c.3409C>G (p.Pro1137Ala) c.3352C>G (p.Pro1118Ala) c.3328C>G (p.Pro1110Ala) c.3322C>G (p.Pro1108Ala) c.3304C>G (p.Pro1102Ala) c.3250C>G (p.Pro1084Ala) c.2557C>G (p.Pro853Ala) c.2470C>G (p.Pro824Ala) n.3746C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727784C>T | CA399313203 | ERBB2 | c.3508C>T (p.Pro1170Ser) c.3418C>T (p.Pro1140Ser) c.2680C>T (p.Pro894Ser) c.3463C>T (p.Pro1155Ser) c.*3298C>T (n.*3298C>T) c.*87C>T (n.*87C>T) n.3832C>T c.3646C>T (p.Pro1216Ser) c.3601C>T (p.Pro1201Ser) c.3556C>T (p.Pro1186Ser) c.3625C>T (p.Pro1209Ser) c.3610C>T (p.Pro1204Ser) c.3589C>T (p.Pro1197Ser) c.3583C>T (p.Pro1195Ser) c.3538C>T (p.Pro1180Ser) c.3529C>T (p.Pro1177Ser) c.3505C>T (p.Pro1169Ser) c.3499C>T (p.Pro1167Ser) c.3472C>T (p.Pro1158Ser) c.3466C>T (p.Pro1156Ser) c.3460C>T (p.Pro1154Ser) c.3421C>T (p.Pro1141Ser) c.3409C>T (p.Pro1137Ser) c.3352C>T (p.Pro1118Ser) c.3328C>T (p.Pro1110Ser) c.3322C>T (p.Pro1108Ser) c.3304C>T (p.Pro1102Ser) c.3250C>T (p.Pro1084Ser) c.2557C>T (p.Pro853Ser) c.2470C>T (p.Pro824Ser) n.3746C>T | dbSNP |
17 | g.39727786del | CA919838704 | ERBB2 | c.3510del (p.Lys1171ArgfsTer27) c.3420del (p.Lys1141ArgfsTer27) c.2682del (p.Lys895ArgfsTer27) c.3465del (p.Lys1156ArgfsTer27) c.*3300del (n.*3300del) c.*89del (n.*89del) n.3834del c.3648del (p.Lys1217ArgfsTer27) c.3603del (p.Lys1202ArgfsTer27) c.3558del (p.Lys1187ArgfsTer27) c.3627del (p.Lys1210ArgfsTer27) c.3612del (p.Lys1205ArgfsTer27) c.3591del (p.Lys1198ArgfsTer27) c.3585del (p.Lys1196ArgfsTer27) c.3540del (p.Lys1181ArgfsTer27) c.3531del (p.Lys1178ArgfsTer27) c.3507del (p.Lys1170ArgfsTer27) c.3501del (p.Lys1168ArgfsTer27) c.3474del (p.Lys1159ArgfsTer27) c.3468del (p.Lys1157ArgfsTer27) c.3462del (p.Lys1155ArgfsTer27) c.3423del (p.Lys1142ArgfsTer27) c.3411del (p.Lys1138ArgfsTer27) c.3354del (p.Lys1119ArgfsTer27) c.3330del (p.Lys1111ArgfsTer27) c.3324del (p.Lys1109ArgfsTer27) c.3306del (p.Lys1103ArgfsTer27) c.3252del (p.Lys1085ArgfsTer27) c.2559del (p.Lys854ArgfsTer27) c.2472del (p.Lys825ArgfsTer27) n.3748del | dbSNP |
17 | g.39727785C>A | CA399313207 | ERBB2 | c.3509C>A (p.Pro1170His) c.3419C>A (p.Pro1140His) c.2681C>A (p.Pro894His) c.3464C>A (p.Pro1155His) c.*3299C>A (n.*3299C>A) c.*88C>A (n.*88C>A) n.3833C>A c.3647C>A (p.Pro1216His) c.3602C>A (p.Pro1201His) c.3557C>A (p.Pro1186His) c.3626C>A (p.Pro1209His) c.3611C>A (p.Pro1204His) c.3590C>A (p.Pro1197His) c.3584C>A (p.Pro1195His) c.3539C>A (p.Pro1180His) c.3530C>A (p.Pro1177His) c.3506C>A (p.Pro1169His) c.3500C>A (p.Pro1167His) c.3473C>A (p.Pro1158His) c.3467C>A (p.Pro1156His) c.3461C>A (p.Pro1154His) c.3422C>A (p.Pro1141His) c.3410C>A (p.Pro1137His) c.3353C>A (p.Pro1118His) c.3329C>A (p.Pro1110His) c.3323C>A (p.Pro1108His) c.3305C>A (p.Pro1102His) c.3251C>A (p.Pro1084His) c.2558C>A (p.Pro853His) c.2471C>A (p.Pro824His) n.3747C>A | dbSNP |
17 | g.39727785C>G | CA399313209 | ERBB2 | c.3509C>G (p.Pro1170Arg) c.3419C>G (p.Pro1140Arg) c.2681C>G (p.Pro894Arg) c.3464C>G (p.Pro1155Arg) c.*3299C>G (n.*3299C>G) c.*88C>G (n.*88C>G) n.3833C>G c.3647C>G (p.Pro1216Arg) c.3602C>G (p.Pro1201Arg) c.3557C>G (p.Pro1186Arg) c.3626C>G (p.Pro1209Arg) c.3611C>G (p.Pro1204Arg) c.3590C>G (p.Pro1197Arg) c.3584C>G (p.Pro1195Arg) c.3539C>G (p.Pro1180Arg) c.3530C>G (p.Pro1177Arg) c.3506C>G (p.Pro1169Arg) c.3500C>G (p.Pro1167Arg) c.3473C>G (p.Pro1158Arg) c.3467C>G (p.Pro1156Arg) c.3461C>G (p.Pro1154Arg) c.3422C>G (p.Pro1141Arg) c.3410C>G (p.Pro1137Arg) c.3353C>G (p.Pro1118Arg) c.3329C>G (p.Pro1110Arg) c.3323C>G (p.Pro1108Arg) c.3305C>G (p.Pro1102Arg) c.3251C>G (p.Pro1084Arg) c.2558C>G (p.Pro853Arg) c.2471C>G (p.Pro824Arg) n.3747C>G | dbSNP |
17 | g.39727785C>T | CA399313211 | ERBB2 | c.3509C>T (p.Pro1170Leu) c.3419C>T (p.Pro1140Leu) c.2681C>T (p.Pro894Leu) c.3464C>T (p.Pro1155Leu) c.*3299C>T (n.*3299C>T) c.*88C>T (n.*88C>T) n.3833C>T c.3647C>T (p.Pro1216Leu) c.3602C>T (p.Pro1201Leu) c.3557C>T (p.Pro1186Leu) c.3626C>T (p.Pro1209Leu) c.3611C>T (p.Pro1204Leu) c.3590C>T (p.Pro1197Leu) c.3584C>T (p.Pro1195Leu) c.3539C>T (p.Pro1180Leu) c.3530C>T (p.Pro1177Leu) c.3506C>T (p.Pro1169Leu) c.3500C>T (p.Pro1167Leu) c.3473C>T (p.Pro1158Leu) c.3467C>T (p.Pro1156Leu) c.3461C>T (p.Pro1154Leu) c.3422C>T (p.Pro1141Leu) c.3410C>T (p.Pro1137Leu) c.3353C>T (p.Pro1118Leu) c.3329C>T (p.Pro1110Leu) c.3323C>T (p.Pro1108Leu) c.3305C>T (p.Pro1102Leu) c.3251C>T (p.Pro1084Leu) c.2558C>T (p.Pro853Leu) c.2471C>T (p.Pro824Leu) n.3747C>T | dbSNP |
17 | g.39727786C>A | CA499890667 | ERBB2 | c.3510C>A (p.Pro1170=) c.3420C>A (p.Pro1140=) c.2682C>A (p.Pro894=) c.3465C>A (p.Pro1155=) c.*3300C>A (n.*3300C>A) c.*89C>A (n.*89C>A) n.3834C>A c.3648C>A (p.Pro1216=) c.3603C>A (p.Pro1201=) c.3558C>A (p.Pro1186=) c.3627C>A (p.Pro1209=) c.3612C>A (p.Pro1204=) c.3591C>A (p.Pro1197=) c.3585C>A (p.Pro1195=) c.3540C>A (p.Pro1180=) c.3531C>A (p.Pro1177=) c.3507C>A (p.Pro1169=) c.3501C>A (p.Pro1167=) c.3474C>A (p.Pro1158=) c.3468C>A (p.Pro1156=) c.3462C>A (p.Pro1154=) c.3423C>A (p.Pro1141=) c.3411C>A (p.Pro1137=) c.3354C>A (p.Pro1118=) c.3330C>A (p.Pro1110=) c.3324C>A (p.Pro1108=) c.3306C>A (p.Pro1102=) c.3252C>A (p.Pro1084=) c.2559C>A (p.Pro853=) c.2472C>A (p.Pro824=) n.3748C>A | dbSNP |
17 | g.39727786C>G | CA499890668 | ERBB2 | c.3510C>G (p.Pro1170=) c.3420C>G (p.Pro1140=) c.2682C>G (p.Pro894=) c.3465C>G (p.Pro1155=) c.*3300C>G (n.*3300C>G) c.*89C>G (n.*89C>G) n.3834C>G c.3648C>G (p.Pro1216=) c.3603C>G (p.Pro1201=) c.3558C>G (p.Pro1186=) c.3627C>G (p.Pro1209=) c.3612C>G (p.Pro1204=) c.3591C>G (p.Pro1197=) c.3585C>G (p.Pro1195=) c.3540C>G (p.Pro1180=) c.3531C>G (p.Pro1177=) c.3507C>G (p.Pro1169=) c.3501C>G (p.Pro1167=) c.3474C>G (p.Pro1158=) c.3468C>G (p.Pro1156=) c.3462C>G (p.Pro1154=) c.3423C>G (p.Pro1141=) c.3411C>G (p.Pro1137=) c.3354C>G (p.Pro1118=) c.3330C>G (p.Pro1110=) c.3324C>G (p.Pro1108=) c.3306C>G (p.Pro1102=) c.3252C>G (p.Pro1084=) c.2559C>G (p.Pro853=) c.2472C>G (p.Pro824=) n.3748C>G | dbSNP gnomAD v4 |
17 | g.39727786C>T | CA499890670 | ERBB2 | c.3510C>T (p.Pro1170=) c.3420C>T (p.Pro1140=) c.2682C>T (p.Pro894=) c.3465C>T (p.Pro1155=) c.*3300C>T (n.*3300C>T) c.*89C>T (n.*89C>T) n.3834C>T c.3648C>T (p.Pro1216=) c.3603C>T (p.Pro1201=) c.3558C>T (p.Pro1186=) c.3627C>T (p.Pro1209=) c.3612C>T (p.Pro1204=) c.3591C>T (p.Pro1197=) c.3585C>T (p.Pro1195=) c.3540C>T (p.Pro1180=) c.3531C>T (p.Pro1177=) c.3507C>T (p.Pro1169=) c.3501C>T (p.Pro1167=) c.3474C>T (p.Pro1158=) c.3468C>T (p.Pro1156=) c.3462C>T (p.Pro1154=) c.3423C>T (p.Pro1141=) c.3411C>T (p.Pro1137=) c.3354C>T (p.Pro1118=) c.3330C>T (p.Pro1110=) c.3324C>T (p.Pro1108=) c.3306C>T (p.Pro1102=) c.3252C>T (p.Pro1084=) c.2559C>T (p.Pro853=) c.2472C>T (p.Pro824=) n.3748C>T | dbSNP |
17 | g.39727787A>C | CA399313223 | ERBB2 | c.3511A>C (p.Lys1171Gln) c.3421A>C (p.Lys1141Gln) c.2683A>C (p.Lys895Gln) c.3466A>C (p.Lys1156Gln) c.*3301A>C (n.*3301A>C) c.*90A>C (n.*90A>C) n.3835A>C c.3649A>C (p.Lys1217Gln) c.3604A>C (p.Lys1202Gln) c.3559A>C (p.Lys1187Gln) c.3628A>C (p.Lys1210Gln) c.3613A>C (p.Lys1205Gln) c.3592A>C (p.Lys1198Gln) c.3586A>C (p.Lys1196Gln) c.3541A>C (p.Lys1181Gln) c.3532A>C (p.Lys1178Gln) c.3508A>C (p.Lys1170Gln) c.3502A>C (p.Lys1168Gln) c.3475A>C (p.Lys1159Gln) c.3469A>C (p.Lys1157Gln) c.3463A>C (p.Lys1155Gln) c.3424A>C (p.Lys1142Gln) c.3412A>C (p.Lys1138Gln) c.3355A>C (p.Lys1119Gln) c.3331A>C (p.Lys1111Gln) c.3325A>C (p.Lys1109Gln) c.3307A>C (p.Lys1103Gln) c.3253A>C (p.Lys1085Gln) c.2560A>C (p.Lys854Gln) c.2473A>C (p.Lys825Gln) n.3749A>C | dbSNP |
17 | g.39727787A>G | CA399313225 | ERBB2 | c.3511A>G (p.Lys1171Glu) c.3421A>G (p.Lys1141Glu) c.2683A>G (p.Lys895Glu) c.3466A>G (p.Lys1156Glu) c.*3301A>G (n.*3301A>G) c.*90A>G (n.*90A>G) n.3835A>G c.3649A>G (p.Lys1217Glu) c.3604A>G (p.Lys1202Glu) c.3559A>G (p.Lys1187Glu) c.3628A>G (p.Lys1210Glu) c.3613A>G (p.Lys1205Glu) c.3592A>G (p.Lys1198Glu) c.3586A>G (p.Lys1196Glu) c.3541A>G (p.Lys1181Glu) c.3532A>G (p.Lys1178Glu) c.3508A>G (p.Lys1170Glu) c.3502A>G (p.Lys1168Glu) c.3475A>G (p.Lys1159Glu) c.3469A>G (p.Lys1157Glu) c.3463A>G (p.Lys1155Glu) c.3424A>G (p.Lys1142Glu) c.3412A>G (p.Lys1138Glu) c.3355A>G (p.Lys1119Glu) c.3331A>G (p.Lys1111Glu) c.3325A>G (p.Lys1109Glu) c.3307A>G (p.Lys1103Glu) c.3253A>G (p.Lys1085Glu) c.2560A>G (p.Lys854Glu) c.2473A>G (p.Lys825Glu) n.3749A>G | dbSNP |
17 | g.39727787A>T | CA399313226 | ERBB2 | c.3511A>T (p.Lys1171Ter) c.3421A>T (p.Lys1141Ter) c.2683A>T (p.Lys895Ter) c.3466A>T (p.Lys1156Ter) c.*3301A>T (n.*3301A>T) c.*90A>T (n.*90A>T) n.3835A>T c.3649A>T (p.Lys1217Ter) c.3604A>T (p.Lys1202Ter) c.3559A>T (p.Lys1187Ter) c.3628A>T (p.Lys1210Ter) c.3613A>T (p.Lys1205Ter) c.3592A>T (p.Lys1198Ter) c.3586A>T (p.Lys1196Ter) c.3541A>T (p.Lys1181Ter) c.3532A>T (p.Lys1178Ter) c.3508A>T (p.Lys1170Ter) c.3502A>T (p.Lys1168Ter) c.3475A>T (p.Lys1159Ter) c.3469A>T (p.Lys1157Ter) c.3463A>T (p.Lys1155Ter) c.3424A>T (p.Lys1142Ter) c.3412A>T (p.Lys1138Ter) c.3355A>T (p.Lys1119Ter) c.3331A>T (p.Lys1111Ter) c.3325A>T (p.Lys1109Ter) c.3307A>T (p.Lys1103Ter) c.3253A>T (p.Lys1085Ter) c.2560A>T (p.Lys854Ter) c.2473A>T (p.Lys825Ter) n.3749A>T | dbSNP |
17 | g.39727788A= | CA2259229261 | ERBB2 | c.3512A= (p.Lys1171=) c.3422A= (p.Lys1141=) c.2684A= (p.Lys895=) c.3467A= (p.Lys1156=) c.*3302A= (n.*3302A=) c.*91A= (n.*91A=) n.3836A= c.3650A= (p.Lys1217=) c.3605A= (p.Lys1202=) c.3560A= (p.Lys1187=) c.3629A= (p.Lys1210=) c.3614A= (p.Lys1205=) c.3593A= (p.Lys1198=) c.3587A= (p.Lys1196=) c.3542A= (p.Lys1181=) c.3533A= (p.Lys1178=) c.3509A= (p.Lys1170=) c.3503A= (p.Lys1168=) c.3476A= (p.Lys1159=) c.3470A= (p.Lys1157=) c.3464A= (p.Lys1155=) c.3425A= (p.Lys1142=) c.3413A= (p.Lys1138=) c.3356A= (p.Lys1119=) c.3332A= (p.Lys1111=) c.3326A= (p.Lys1109=) c.3308A= (p.Lys1103=) c.3254A= (p.Lys1085=) c.2561A= (p.Lys854=) c.2474A= (p.Lys825=) n.3750A= | |
17 | g.39727788A>C | CA399313228 | ERBB2 | c.3512A>C (p.Lys1171Thr) c.3422A>C (p.Lys1141Thr) c.2684A>C (p.Lys895Thr) c.3467A>C (p.Lys1156Thr) c.*3302A>C (n.*3302A>C) c.*91A>C (n.*91A>C) n.3836A>C c.3650A>C (p.Lys1217Thr) c.3605A>C (p.Lys1202Thr) c.3560A>C (p.Lys1187Thr) c.3629A>C (p.Lys1210Thr) c.3614A>C (p.Lys1205Thr) c.3593A>C (p.Lys1198Thr) c.3587A>C (p.Lys1196Thr) c.3542A>C (p.Lys1181Thr) c.3533A>C (p.Lys1178Thr) c.3509A>C (p.Lys1170Thr) c.3503A>C (p.Lys1168Thr) c.3476A>C (p.Lys1159Thr) c.3470A>C (p.Lys1157Thr) c.3464A>C (p.Lys1155Thr) c.3425A>C (p.Lys1142Thr) c.3413A>C (p.Lys1138Thr) c.3356A>C (p.Lys1119Thr) c.3332A>C (p.Lys1111Thr) c.3326A>C (p.Lys1109Thr) c.3308A>C (p.Lys1103Thr) c.3254A>C (p.Lys1085Thr) c.2561A>C (p.Lys854Thr) c.2474A>C (p.Lys825Thr) n.3750A>C | |
17 | g.39727788A>G | CA399313231 | ERBB2 | c.3512A>G (p.Lys1171Arg) c.3422A>G (p.Lys1141Arg) c.2684A>G (p.Lys895Arg) c.3467A>G (p.Lys1156Arg) c.*3302A>G (n.*3302A>G) c.*91A>G (n.*91A>G) n.3836A>G c.3650A>G (p.Lys1217Arg) c.3605A>G (p.Lys1202Arg) c.3560A>G (p.Lys1187Arg) c.3629A>G (p.Lys1210Arg) c.3614A>G (p.Lys1205Arg) c.3593A>G (p.Lys1198Arg) c.3587A>G (p.Lys1196Arg) c.3542A>G (p.Lys1181Arg) c.3533A>G (p.Lys1178Arg) c.3509A>G (p.Lys1170Arg) c.3503A>G (p.Lys1168Arg) c.3476A>G (p.Lys1159Arg) c.3470A>G (p.Lys1157Arg) c.3464A>G (p.Lys1155Arg) c.3425A>G (p.Lys1142Arg) c.3413A>G (p.Lys1138Arg) c.3356A>G (p.Lys1119Arg) c.3332A>G (p.Lys1111Arg) c.3326A>G (p.Lys1109Arg) c.3308A>G (p.Lys1103Arg) c.3254A>G (p.Lys1085Arg) c.2561A>G (p.Lys854Arg) c.2474A>G (p.Lys825Arg) n.3750A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727788A>T | CA399313234 | ERBB2 | c.3512A>T (p.Lys1171Met) c.3422A>T (p.Lys1141Met) c.2684A>T (p.Lys895Met) c.3467A>T (p.Lys1156Met) c.*3302A>T (n.*3302A>T) c.*91A>T (n.*91A>T) n.3836A>T c.3650A>T (p.Lys1217Met) c.3605A>T (p.Lys1202Met) c.3560A>T (p.Lys1187Met) c.3629A>T (p.Lys1210Met) c.3614A>T (p.Lys1205Met) c.3593A>T (p.Lys1198Met) c.3587A>T (p.Lys1196Met) c.3542A>T (p.Lys1181Met) c.3533A>T (p.Lys1178Met) c.3509A>T (p.Lys1170Met) c.3503A>T (p.Lys1168Met) c.3476A>T (p.Lys1159Met) c.3470A>T (p.Lys1157Met) c.3464A>T (p.Lys1155Met) c.3425A>T (p.Lys1142Met) c.3413A>T (p.Lys1138Met) c.3356A>T (p.Lys1119Met) c.3332A>T (p.Lys1111Met) c.3326A>T (p.Lys1109Met) c.3308A>T (p.Lys1103Met) c.3254A>T (p.Lys1085Met) c.2561A>T (p.Lys854Met) c.2474A>T (p.Lys825Met) n.3750A>T | dbSNP COSMIC |
17 | g.39727789G>A | CA499890673 | ERBB2 | c.3513G>A (p.Lys1171=) c.3423G>A (p.Lys1141=) c.2685G>A (p.Lys895=) c.3468G>A (p.Lys1156=) c.*3303G>A (n.*3303G>A) c.*92G>A (n.*92G>A) n.3837G>A c.3651G>A (p.Lys1217=) c.3606G>A (p.Lys1202=) c.3561G>A (p.Lys1187=) c.3630G>A (p.Lys1210=) c.3615G>A (p.Lys1205=) c.3594G>A (p.Lys1198=) c.3588G>A (p.Lys1196=) c.3543G>A (p.Lys1181=) c.3534G>A (p.Lys1178=) c.3510G>A (p.Lys1170=) c.3504G>A (p.Lys1168=) c.3477G>A (p.Lys1159=) c.3471G>A (p.Lys1157=) c.3465G>A (p.Lys1155=) c.3426G>A (p.Lys1142=) c.3414G>A (p.Lys1138=) c.3357G>A (p.Lys1119=) c.3333G>A (p.Lys1111=) c.3327G>A (p.Lys1109=) c.3309G>A (p.Lys1103=) c.3255G>A (p.Lys1085=) c.2562G>A (p.Lys854=) c.2475G>A (p.Lys825=) n.3751G>A | dbSNP |
17 | g.39727789G>C | CA399313237 | ERBB2 | c.3513G>C (p.Lys1171Asn) c.3423G>C (p.Lys1141Asn) c.2685G>C (p.Lys895Asn) c.3468G>C (p.Lys1156Asn) c.*3303G>C (n.*3303G>C) c.*92G>C (n.*92G>C) n.3837G>C c.3651G>C (p.Lys1217Asn) c.3606G>C (p.Lys1202Asn) c.3561G>C (p.Lys1187Asn) c.3630G>C (p.Lys1210Asn) c.3615G>C (p.Lys1205Asn) c.3594G>C (p.Lys1198Asn) c.3588G>C (p.Lys1196Asn) c.3543G>C (p.Lys1181Asn) c.3534G>C (p.Lys1178Asn) c.3510G>C (p.Lys1170Asn) c.3504G>C (p.Lys1168Asn) c.3477G>C (p.Lys1159Asn) c.3471G>C (p.Lys1157Asn) c.3465G>C (p.Lys1155Asn) c.3426G>C (p.Lys1142Asn) c.3414G>C (p.Lys1138Asn) c.3357G>C (p.Lys1119Asn) c.3333G>C (p.Lys1111Asn) c.3327G>C (p.Lys1109Asn) c.3309G>C (p.Lys1103Asn) c.3255G>C (p.Lys1085Asn) c.2562G>C (p.Lys854Asn) c.2475G>C (p.Lys825Asn) n.3751G>C | dbSNP |
17 | g.39727789G>T | CA399313235 | ERBB2 | c.3513G>T (p.Lys1171Asn) c.3423G>T (p.Lys1141Asn) c.2685G>T (p.Lys895Asn) c.3468G>T (p.Lys1156Asn) c.*3303G>T (n.*3303G>T) c.*92G>T (n.*92G>T) n.3837G>T c.3651G>T (p.Lys1217Asn) c.3606G>T (p.Lys1202Asn) c.3561G>T (p.Lys1187Asn) c.3630G>T (p.Lys1210Asn) c.3615G>T (p.Lys1205Asn) c.3594G>T (p.Lys1198Asn) c.3588G>T (p.Lys1196Asn) c.3543G>T (p.Lys1181Asn) c.3534G>T (p.Lys1178Asn) c.3510G>T (p.Lys1170Asn) c.3504G>T (p.Lys1168Asn) c.3477G>T (p.Lys1159Asn) c.3471G>T (p.Lys1157Asn) c.3465G>T (p.Lys1155Asn) c.3426G>T (p.Lys1142Asn) c.3414G>T (p.Lys1138Asn) c.3357G>T (p.Lys1119Asn) c.3333G>T (p.Lys1111Asn) c.3327G>T (p.Lys1109Asn) c.3309G>T (p.Lys1103Asn) c.3255G>T (p.Lys1085Asn) c.2562G>T (p.Lys854Asn) c.2475G>T (p.Lys825Asn) n.3751G>T | dbSNP |
17 | g.39727790A>C | CA399313239 | ERBB2 | c.3514A>C (p.Thr1172Pro) c.3424A>C (p.Thr1142Pro) c.2686A>C (p.Thr896Pro) c.3469A>C (p.Thr1157Pro) c.*3304A>C (n.*3304A>C) c.*93A>C (n.*93A>C) n.3838A>C c.3652A>C (p.Thr1218Pro) c.3607A>C (p.Thr1203Pro) c.3562A>C (p.Thr1188Pro) c.3631A>C (p.Thr1211Pro) c.3616A>C (p.Thr1206Pro) c.3595A>C (p.Thr1199Pro) c.3589A>C (p.Thr1197Pro) c.3544A>C (p.Thr1182Pro) c.3535A>C (p.Thr1179Pro) c.3511A>C (p.Thr1171Pro) c.3505A>C (p.Thr1169Pro) c.3478A>C (p.Thr1160Pro) c.3472A>C (p.Thr1158Pro) c.3466A>C (p.Thr1156Pro) c.3427A>C (p.Thr1143Pro) c.3415A>C (p.Thr1139Pro) c.3358A>C (p.Thr1120Pro) c.3334A>C (p.Thr1112Pro) c.3328A>C (p.Thr1110Pro) c.3310A>C (p.Thr1104Pro) c.3256A>C (p.Thr1086Pro) c.2563A>C (p.Thr855Pro) c.2476A>C (p.Thr826Pro) n.3752A>C | dbSNP |
17 | g.39727790A>G | CA399313241 | ERBB2 | c.3514A>G (p.Thr1172Ala) c.3424A>G (p.Thr1142Ala) c.2686A>G (p.Thr896Ala) c.3469A>G (p.Thr1157Ala) c.*3304A>G (n.*3304A>G) c.*93A>G (n.*93A>G) n.3838A>G c.3652A>G (p.Thr1218Ala) c.3607A>G (p.Thr1203Ala) c.3562A>G (p.Thr1188Ala) c.3631A>G (p.Thr1211Ala) c.3616A>G (p.Thr1206Ala) c.3595A>G (p.Thr1199Ala) c.3589A>G (p.Thr1197Ala) c.3544A>G (p.Thr1182Ala) c.3535A>G (p.Thr1179Ala) c.3511A>G (p.Thr1171Ala) c.3505A>G (p.Thr1169Ala) c.3478A>G (p.Thr1160Ala) c.3472A>G (p.Thr1158Ala) c.3466A>G (p.Thr1156Ala) c.3427A>G (p.Thr1143Ala) c.3415A>G (p.Thr1139Ala) c.3358A>G (p.Thr1120Ala) c.3334A>G (p.Thr1112Ala) c.3328A>G (p.Thr1110Ala) c.3310A>G (p.Thr1104Ala) c.3256A>G (p.Thr1086Ala) c.2563A>G (p.Thr855Ala) c.2476A>G (p.Thr826Ala) n.3752A>G | dbSNP |
17 | g.39727790A>T | CA399313243 | ERBB2 | c.3514A>T (p.Thr1172Ser) c.3424A>T (p.Thr1142Ser) c.2686A>T (p.Thr896Ser) c.3469A>T (p.Thr1157Ser) c.*3304A>T (n.*3304A>T) c.*93A>T (n.*93A>T) n.3838A>T c.3652A>T (p.Thr1218Ser) c.3607A>T (p.Thr1203Ser) c.3562A>T (p.Thr1188Ser) c.3631A>T (p.Thr1211Ser) c.3616A>T (p.Thr1206Ser) c.3595A>T (p.Thr1199Ser) c.3589A>T (p.Thr1197Ser) c.3544A>T (p.Thr1182Ser) c.3535A>T (p.Thr1179Ser) c.3511A>T (p.Thr1171Ser) c.3505A>T (p.Thr1169Ser) c.3478A>T (p.Thr1160Ser) c.3472A>T (p.Thr1158Ser) c.3466A>T (p.Thr1156Ser) c.3427A>T (p.Thr1143Ser) c.3415A>T (p.Thr1139Ser) c.3358A>T (p.Thr1120Ser) c.3334A>T (p.Thr1112Ser) c.3328A>T (p.Thr1110Ser) c.3310A>T (p.Thr1104Ser) c.3256A>T (p.Thr1086Ser) c.2563A>T (p.Thr855Ser) c.2476A>T (p.Thr826Ser) n.3752A>T | ClinVar |
17 | g.39727791C>A | CA399313247 | ERBB2 | c.3515C>A (p.Thr1172Asn) c.3425C>A (p.Thr1142Asn) c.2687C>A (p.Thr896Asn) c.3470C>A (p.Thr1157Asn) c.*3305C>A (n.*3305C>A) c.*94C>A (n.*94C>A) n.3839C>A c.3653C>A (p.Thr1218Asn) c.3608C>A (p.Thr1203Asn) c.3563C>A (p.Thr1188Asn) c.3632C>A (p.Thr1211Asn) c.3617C>A (p.Thr1206Asn) c.3596C>A (p.Thr1199Asn) c.3590C>A (p.Thr1197Asn) c.3545C>A (p.Thr1182Asn) c.3536C>A (p.Thr1179Asn) c.3512C>A (p.Thr1171Asn) c.3506C>A (p.Thr1169Asn) c.3479C>A (p.Thr1160Asn) c.3473C>A (p.Thr1158Asn) c.3467C>A (p.Thr1156Asn) c.3428C>A (p.Thr1143Asn) c.3416C>A (p.Thr1139Asn) c.3359C>A (p.Thr1120Asn) c.3335C>A (p.Thr1112Asn) c.3329C>A (p.Thr1110Asn) c.3311C>A (p.Thr1104Asn) c.3257C>A (p.Thr1086Asn) c.2564C>A (p.Thr855Asn) c.2477C>A (p.Thr826Asn) n.3753C>A | dbSNP |
17 | g.39727791C>G | CA399313254 | ERBB2 | c.3515C>G (p.Thr1172Ser) c.3425C>G (p.Thr1142Ser) c.2687C>G (p.Thr896Ser) c.3470C>G (p.Thr1157Ser) c.*3305C>G (n.*3305C>G) c.*94C>G (n.*94C>G) n.3839C>G c.3653C>G (p.Thr1218Ser) c.3608C>G (p.Thr1203Ser) c.3563C>G (p.Thr1188Ser) c.3632C>G (p.Thr1211Ser) c.3617C>G (p.Thr1206Ser) c.3596C>G (p.Thr1199Ser) c.3590C>G (p.Thr1197Ser) c.3545C>G (p.Thr1182Ser) c.3536C>G (p.Thr1179Ser) c.3512C>G (p.Thr1171Ser) c.3506C>G (p.Thr1169Ser) c.3479C>G (p.Thr1160Ser) c.3473C>G (p.Thr1158Ser) c.3467C>G (p.Thr1156Ser) c.3428C>G (p.Thr1143Ser) c.3416C>G (p.Thr1139Ser) c.3359C>G (p.Thr1120Ser) c.3335C>G (p.Thr1112Ser) c.3329C>G (p.Thr1110Ser) c.3311C>G (p.Thr1104Ser) c.3257C>G (p.Thr1086Ser) c.2564C>G (p.Thr855Ser) c.2477C>G (p.Thr826Ser) n.3753C>G | dbSNP |
17 | g.39727791C>T | CA399313256 | ERBB2 | c.3515C>T (p.Thr1172Ile) c.3425C>T (p.Thr1142Ile) c.2687C>T (p.Thr896Ile) c.3470C>T (p.Thr1157Ile) c.*3305C>T (n.*3305C>T) c.*94C>T (n.*94C>T) n.3839C>T c.3653C>T (p.Thr1218Ile) c.3608C>T (p.Thr1203Ile) c.3563C>T (p.Thr1188Ile) c.3632C>T (p.Thr1211Ile) c.3617C>T (p.Thr1206Ile) c.3596C>T (p.Thr1199Ile) c.3590C>T (p.Thr1197Ile) c.3545C>T (p.Thr1182Ile) c.3536C>T (p.Thr1179Ile) c.3512C>T (p.Thr1171Ile) c.3506C>T (p.Thr1169Ile) c.3479C>T (p.Thr1160Ile) c.3473C>T (p.Thr1158Ile) c.3467C>T (p.Thr1156Ile) c.3428C>T (p.Thr1143Ile) c.3416C>T (p.Thr1139Ile) c.3359C>T (p.Thr1120Ile) c.3335C>T (p.Thr1112Ile) c.3329C>T (p.Thr1110Ile) c.3311C>T (p.Thr1104Ile) c.3257C>T (p.Thr1086Ile) c.2564C>T (p.Thr855Ile) c.2477C>T (p.Thr826Ile) n.3753C>T | dbSNP |
17 | g.39727796_39727797del | CA2637630211 | ERBB2 | c.3520_3521del (p.Ser1174ProfsTer?) c.3430_3431del (p.Ser1144ProfsTer?) c.2692_2693del (p.Ser898ProfsTer?) c.3475_3476del (p.Ser1159ProfsTer?) c.*3310_*3311del (n.*3310_*3311del) c.*99_*100del (n.*99_*100del) n.3844_3845del c.3658_3659del (p.Ser1220ProfsTer?) c.3613_3614del (p.Ser1205ProfsTer?) c.3568_3569del (p.Ser1190ProfsTer?) c.3637_3638del (p.Ser1213ProfsTer?) c.3622_3623del (p.Ser1208ProfsTer?) c.3601_3602del (p.Ser1201ProfsTer?) c.3595_3596del (p.Ser1199ProfsTer?) c.3550_3551del (p.Ser1184ProfsTer?) c.3541_3542del (p.Ser1181ProfsTer?) c.3517_3518del (p.Ser1173ProfsTer?) c.3511_3512del (p.Ser1171ProfsTer?) c.3484_3485del (p.Ser1162ProfsTer?) c.3478_3479del (p.Ser1160ProfsTer?) c.3472_3473del (p.Ser1158ProfsTer?) c.3433_3434del (p.Ser1145ProfsTer?) c.3421_3422del (p.Ser1141ProfsTer?) c.3364_3365del (p.Ser1122ProfsTer?) c.3340_3341del (p.Ser1114ProfsTer?) c.3334_3335del (p.Ser1112ProfsTer?) c.3316_3317del (p.Ser1106ProfsTer?) c.3262_3263del (p.Ser1088ProfsTer?) c.2569_2570del (p.Ser857ProfsTer?) c.2482_2483del (p.Ser828ProfsTer?) n.3758_3759del | gnomAD v4 |
17 | g.39727792T>A | CA499890680 | ERBB2 | c.3516T>A (p.Thr1172=) c.3426T>A (p.Thr1142=) c.2688T>A (p.Thr896=) c.3471T>A (p.Thr1157=) c.*3306T>A (n.*3306T>A) c.*95T>A (n.*95T>A) n.3840T>A c.3654T>A (p.Thr1218=) c.3609T>A (p.Thr1203=) c.3564T>A (p.Thr1188=) c.3633T>A (p.Thr1211=) c.3618T>A (p.Thr1206=) c.3597T>A (p.Thr1199=) c.3591T>A (p.Thr1197=) c.3546T>A (p.Thr1182=) c.3537T>A (p.Thr1179=) c.3513T>A (p.Thr1171=) c.3507T>A (p.Thr1169=) c.3480T>A (p.Thr1160=) c.3474T>A (p.Thr1158=) c.3468T>A (p.Thr1156=) c.3429T>A (p.Thr1143=) c.3417T>A (p.Thr1139=) c.3360T>A (p.Thr1120=) c.3336T>A (p.Thr1112=) c.3330T>A (p.Thr1110=) c.3312T>A (p.Thr1104=) c.3258T>A (p.Thr1086=) c.2565T>A (p.Thr855=) c.2478T>A (p.Thr826=) n.3754T>A | |
17 | g.39727792T>C | CA499890682 | ERBB2 | c.3516T>C (p.Thr1172=) c.3426T>C (p.Thr1142=) c.2688T>C (p.Thr896=) c.3471T>C (p.Thr1157=) c.*3306T>C (n.*3306T>C) c.*95T>C (n.*95T>C) n.3840T>C c.3654T>C (p.Thr1218=) c.3609T>C (p.Thr1203=) c.3564T>C (p.Thr1188=) c.3633T>C (p.Thr1211=) c.3618T>C (p.Thr1206=) c.3597T>C (p.Thr1199=) c.3591T>C (p.Thr1197=) c.3546T>C (p.Thr1182=) c.3537T>C (p.Thr1179=) c.3513T>C (p.Thr1171=) c.3507T>C (p.Thr1169=) c.3480T>C (p.Thr1160=) c.3474T>C (p.Thr1158=) c.3468T>C (p.Thr1156=) c.3429T>C (p.Thr1143=) c.3417T>C (p.Thr1139=) c.3360T>C (p.Thr1120=) c.3336T>C (p.Thr1112=) c.3330T>C (p.Thr1110=) c.3312T>C (p.Thr1104=) c.3258T>C (p.Thr1086=) c.2565T>C (p.Thr855=) c.2478T>C (p.Thr826=) n.3754T>C | |
17 | g.39727792T>G | CA499890684 | ERBB2 | c.3516T>G (p.Thr1172=) c.3426T>G (p.Thr1142=) c.2688T>G (p.Thr896=) c.3471T>G (p.Thr1157=) c.*3306T>G (n.*3306T>G) c.*95T>G (n.*95T>G) n.3840T>G c.3654T>G (p.Thr1218=) c.3609T>G (p.Thr1203=) c.3564T>G (p.Thr1188=) c.3633T>G (p.Thr1211=) c.3618T>G (p.Thr1206=) c.3597T>G (p.Thr1199=) c.3591T>G (p.Thr1197=) c.3546T>G (p.Thr1182=) c.3537T>G (p.Thr1179=) c.3513T>G (p.Thr1171=) c.3507T>G (p.Thr1169=) c.3480T>G (p.Thr1160=) c.3474T>G (p.Thr1158=) c.3468T>G (p.Thr1156=) c.3429T>G (p.Thr1143=) c.3417T>G (p.Thr1139=) c.3360T>G (p.Thr1120=) c.3336T>G (p.Thr1112=) c.3330T>G (p.Thr1110=) c.3312T>G (p.Thr1104=) c.3258T>G (p.Thr1086=) c.2565T>G (p.Thr855=) c.2478T>G (p.Thr826=) n.3754T>G | gnomAD v3 gnomAD v4 |
17 | g.39727793C>A | CA399313261 | ERBB2 | c.3517C>A (p.Leu1173Ile) c.3427C>A (p.Leu1143Ile) c.2689C>A (p.Leu897Ile) c.3472C>A (p.Leu1158Ile) c.*3307C>A (n.*3307C>A) c.*96C>A (n.*96C>A) n.3841C>A c.3655C>A (p.Leu1219Ile) c.3610C>A (p.Leu1204Ile) c.3565C>A (p.Leu1189Ile) c.3634C>A (p.Leu1212Ile) c.3619C>A (p.Leu1207Ile) c.3598C>A (p.Leu1200Ile) c.3592C>A (p.Leu1198Ile) c.3547C>A (p.Leu1183Ile) c.3538C>A (p.Leu1180Ile) c.3514C>A (p.Leu1172Ile) c.3508C>A (p.Leu1170Ile) c.3481C>A (p.Leu1161Ile) c.3475C>A (p.Leu1159Ile) c.3469C>A (p.Leu1157Ile) c.3430C>A (p.Leu1144Ile) c.3418C>A (p.Leu1140Ile) c.3361C>A (p.Leu1121Ile) c.3337C>A (p.Leu1113Ile) c.3331C>A (p.Leu1111Ile) c.3313C>A (p.Leu1105Ile) c.3259C>A (p.Leu1087Ile) c.2566C>A (p.Leu856Ile) c.2479C>A (p.Leu827Ile) n.3755C>A | |
17 | g.39727793C= | CA2259229262 | ERBB2 | c.3517C= (p.Leu1173=) c.3427C= (p.Leu1143=) c.2689C= (p.Leu897=) c.3472C= (p.Leu1158=) c.*3307C= (n.*3307C=) c.*96C= (n.*96C=) n.3841C= c.3655C= (p.Leu1219=) c.3610C= (p.Leu1204=) c.3565C= (p.Leu1189=) c.3634C= (p.Leu1212=) c.3619C= (p.Leu1207=) c.3598C= (p.Leu1200=) c.3592C= (p.Leu1198=) c.3547C= (p.Leu1183=) c.3538C= (p.Leu1180=) c.3514C= (p.Leu1172=) c.3508C= (p.Leu1170=) c.3481C= (p.Leu1161=) c.3475C= (p.Leu1159=) c.3469C= (p.Leu1157=) c.3430C= (p.Leu1144=) c.3418C= (p.Leu1140=) c.3361C= (p.Leu1121=) c.3337C= (p.Leu1113=) c.3331C= (p.Leu1111=) c.3313C= (p.Leu1105=) c.3259C= (p.Leu1087=) c.2566C= (p.Leu856=) c.2479C= (p.Leu827=) n.3755C= | |
17 | g.39727793C>G | CA399313263 | ERBB2 | c.3517C>G (p.Leu1173Val) c.3427C>G (p.Leu1143Val) c.2689C>G (p.Leu897Val) c.3472C>G (p.Leu1158Val) c.*3307C>G (n.*3307C>G) c.*96C>G (n.*96C>G) n.3841C>G c.3655C>G (p.Leu1219Val) c.3610C>G (p.Leu1204Val) c.3565C>G (p.Leu1189Val) c.3634C>G (p.Leu1212Val) c.3619C>G (p.Leu1207Val) c.3598C>G (p.Leu1200Val) c.3592C>G (p.Leu1198Val) c.3547C>G (p.Leu1183Val) c.3538C>G (p.Leu1180Val) c.3514C>G (p.Leu1172Val) c.3508C>G (p.Leu1170Val) c.3481C>G (p.Leu1161Val) c.3475C>G (p.Leu1159Val) c.3469C>G (p.Leu1157Val) c.3430C>G (p.Leu1144Val) c.3418C>G (p.Leu1140Val) c.3361C>G (p.Leu1121Val) c.3337C>G (p.Leu1113Val) c.3331C>G (p.Leu1111Val) c.3313C>G (p.Leu1105Val) c.3259C>G (p.Leu1087Val) c.2566C>G (p.Leu856Val) c.2479C>G (p.Leu827Val) n.3755C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727793C>T | CA399313266 | ERBB2 | c.3517C>T (p.Leu1173Phe) c.3427C>T (p.Leu1143Phe) c.2689C>T (p.Leu897Phe) c.3472C>T (p.Leu1158Phe) c.*3307C>T (n.*3307C>T) c.*96C>T (n.*96C>T) n.3841C>T c.3655C>T (p.Leu1219Phe) c.3610C>T (p.Leu1204Phe) c.3565C>T (p.Leu1189Phe) c.3634C>T (p.Leu1212Phe) c.3619C>T (p.Leu1207Phe) c.3598C>T (p.Leu1200Phe) c.3592C>T (p.Leu1198Phe) c.3547C>T (p.Leu1183Phe) c.3538C>T (p.Leu1180Phe) c.3514C>T (p.Leu1172Phe) c.3508C>T (p.Leu1170Phe) c.3481C>T (p.Leu1161Phe) c.3475C>T (p.Leu1159Phe) c.3469C>T (p.Leu1157Phe) c.3430C>T (p.Leu1144Phe) c.3418C>T (p.Leu1140Phe) c.3361C>T (p.Leu1121Phe) c.3337C>T (p.Leu1113Phe) c.3331C>T (p.Leu1111Phe) c.3313C>T (p.Leu1105Phe) c.3259C>T (p.Leu1087Phe) c.2566C>T (p.Leu856Phe) c.2479C>T (p.Leu827Phe) n.3755C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727794T>A | CA399313270 | ERBB2 | c.3518T>A (p.Leu1173His) c.3428T>A (p.Leu1143His) c.2690T>A (p.Leu897His) c.3473T>A (p.Leu1158His) c.*3308T>A (n.*3308T>A) c.*97T>A (n.*97T>A) n.3842T>A c.3656T>A (p.Leu1219His) c.3611T>A (p.Leu1204His) c.3566T>A (p.Leu1189His) c.3635T>A (p.Leu1212His) c.3620T>A (p.Leu1207His) c.3599T>A (p.Leu1200His) c.3593T>A (p.Leu1198His) c.3548T>A (p.Leu1183His) c.3539T>A (p.Leu1180His) c.3515T>A (p.Leu1172His) c.3509T>A (p.Leu1170His) c.3482T>A (p.Leu1161His) c.3476T>A (p.Leu1159His) c.3470T>A (p.Leu1157His) c.3431T>A (p.Leu1144His) c.3419T>A (p.Leu1140His) c.3362T>A (p.Leu1121His) c.3338T>A (p.Leu1113His) c.3332T>A (p.Leu1111His) c.3314T>A (p.Leu1105His) c.3260T>A (p.Leu1087His) c.2567T>A (p.Leu856His) c.2480T>A (p.Leu827His) n.3756T>A | dbSNP |
17 | g.39727794T>C | CA399313273 | ERBB2 | c.3518T>C (p.Leu1173Pro) c.3428T>C (p.Leu1143Pro) c.2690T>C (p.Leu897Pro) c.3473T>C (p.Leu1158Pro) c.*3308T>C (n.*3308T>C) c.*97T>C (n.*97T>C) n.3842T>C c.3656T>C (p.Leu1219Pro) c.3611T>C (p.Leu1204Pro) c.3566T>C (p.Leu1189Pro) c.3635T>C (p.Leu1212Pro) c.3620T>C (p.Leu1207Pro) c.3599T>C (p.Leu1200Pro) c.3593T>C (p.Leu1198Pro) c.3548T>C (p.Leu1183Pro) c.3539T>C (p.Leu1180Pro) c.3515T>C (p.Leu1172Pro) c.3509T>C (p.Leu1170Pro) c.3482T>C (p.Leu1161Pro) c.3476T>C (p.Leu1159Pro) c.3470T>C (p.Leu1157Pro) c.3431T>C (p.Leu1144Pro) c.3419T>C (p.Leu1140Pro) c.3362T>C (p.Leu1121Pro) c.3338T>C (p.Leu1113Pro) c.3332T>C (p.Leu1111Pro) c.3314T>C (p.Leu1105Pro) c.3260T>C (p.Leu1087Pro) c.2567T>C (p.Leu856Pro) c.2480T>C (p.Leu827Pro) n.3756T>C | dbSNP COSMIC |
17 | g.39727794T>G | CA399313277 | ERBB2 | c.3518T>G (p.Leu1173Arg) c.3428T>G (p.Leu1143Arg) c.2690T>G (p.Leu897Arg) c.3473T>G (p.Leu1158Arg) c.*3308T>G (n.*3308T>G) c.*97T>G (n.*97T>G) n.3842T>G c.3656T>G (p.Leu1219Arg) c.3611T>G (p.Leu1204Arg) c.3566T>G (p.Leu1189Arg) c.3635T>G (p.Leu1212Arg) c.3620T>G (p.Leu1207Arg) c.3599T>G (p.Leu1200Arg) c.3593T>G (p.Leu1198Arg) c.3548T>G (p.Leu1183Arg) c.3539T>G (p.Leu1180Arg) c.3515T>G (p.Leu1172Arg) c.3509T>G (p.Leu1170Arg) c.3482T>G (p.Leu1161Arg) c.3476T>G (p.Leu1159Arg) c.3470T>G (p.Leu1157Arg) c.3431T>G (p.Leu1144Arg) c.3419T>G (p.Leu1140Arg) c.3362T>G (p.Leu1121Arg) c.3338T>G (p.Leu1113Arg) c.3332T>G (p.Leu1111Arg) c.3314T>G (p.Leu1105Arg) c.3260T>G (p.Leu1087Arg) c.2567T>G (p.Leu856Arg) c.2480T>G (p.Leu827Arg) n.3756T>G | |
17 | g.39727795C>A | CA499890686 | ERBB2 | c.3519C>A (p.Leu1173=) c.3429C>A (p.Leu1143=) c.2691C>A (p.Leu897=) c.3474C>A (p.Leu1158=) c.*3309C>A (n.*3309C>A) c.*98C>A (n.*98C>A) n.3843C>A c.3657C>A (p.Leu1219=) c.3612C>A (p.Leu1204=) c.3567C>A (p.Leu1189=) c.3636C>A (p.Leu1212=) c.3621C>A (p.Leu1207=) c.3600C>A (p.Leu1200=) c.3594C>A (p.Leu1198=) c.3549C>A (p.Leu1183=) c.3540C>A (p.Leu1180=) c.3516C>A (p.Leu1172=) c.3510C>A (p.Leu1170=) c.3483C>A (p.Leu1161=) c.3477C>A (p.Leu1159=) c.3471C>A (p.Leu1157=) c.3432C>A (p.Leu1144=) c.3420C>A (p.Leu1140=) c.3363C>A (p.Leu1121=) c.3339C>A (p.Leu1113=) c.3333C>A (p.Leu1111=) c.3315C>A (p.Leu1105=) c.3261C>A (p.Leu1087=) c.2568C>A (p.Leu856=) c.2481C>A (p.Leu827=) n.3757C>A | dbSNP |
17 | g.39727795C= | CA2259229263 | ERBB2 | c.3519C= (p.Leu1173=) c.3429C= (p.Leu1143=) c.2691C= (p.Leu897=) c.3474C= (p.Leu1158=) c.*3309C= (n.*3309C=) c.*98C= (n.*98C=) n.3843C= c.3657C= (p.Leu1219=) c.3612C= (p.Leu1204=) c.3567C= (p.Leu1189=) c.3636C= (p.Leu1212=) c.3621C= (p.Leu1207=) c.3600C= (p.Leu1200=) c.3594C= (p.Leu1198=) c.3549C= (p.Leu1183=) c.3540C= (p.Leu1180=) c.3516C= (p.Leu1172=) c.3510C= (p.Leu1170=) c.3483C= (p.Leu1161=) c.3477C= (p.Leu1159=) c.3471C= (p.Leu1157=) c.3432C= (p.Leu1144=) c.3420C= (p.Leu1140=) c.3363C= (p.Leu1121=) c.3339C= (p.Leu1113=) c.3333C= (p.Leu1111=) c.3315C= (p.Leu1105=) c.3261C= (p.Leu1087=) c.2568C= (p.Leu856=) c.2481C= (p.Leu827=) n.3757C= | |
17 | g.39727795C>G | CA499890687 | ERBB2 | c.3519C>G (p.Leu1173=) c.3429C>G (p.Leu1143=) c.2691C>G (p.Leu897=) c.3474C>G (p.Leu1158=) c.*3309C>G (n.*3309C>G) c.*98C>G (n.*98C>G) n.3843C>G c.3657C>G (p.Leu1219=) c.3612C>G (p.Leu1204=) c.3567C>G (p.Leu1189=) c.3636C>G (p.Leu1212=) c.3621C>G (p.Leu1207=) c.3600C>G (p.Leu1200=) c.3594C>G (p.Leu1198=) c.3549C>G (p.Leu1183=) c.3540C>G (p.Leu1180=) c.3516C>G (p.Leu1172=) c.3510C>G (p.Leu1170=) c.3483C>G (p.Leu1161=) c.3477C>G (p.Leu1159=) c.3471C>G (p.Leu1157=) c.3432C>G (p.Leu1144=) c.3420C>G (p.Leu1140=) c.3363C>G (p.Leu1121=) c.3339C>G (p.Leu1113=) c.3333C>G (p.Leu1111=) c.3315C>G (p.Leu1105=) c.3261C>G (p.Leu1087=) c.2568C>G (p.Leu856=) c.2481C>G (p.Leu827=) n.3757C>G | dbSNP COSMIC |
17 | g.39727795C>T | CA8534575 | ERBB2 | c.3519C>T (p.Leu1173=) c.3429C>T (p.Leu1143=) c.2691C>T (p.Leu897=) c.3474C>T (p.Leu1158=) c.*3309C>T (n.*3309C>T) c.*98C>T (n.*98C>T) n.3843C>T c.3657C>T (p.Leu1219=) c.3612C>T (p.Leu1204=) c.3567C>T (p.Leu1189=) c.3636C>T (p.Leu1212=) c.3621C>T (p.Leu1207=) c.3600C>T (p.Leu1200=) c.3594C>T (p.Leu1198=) c.3549C>T (p.Leu1183=) c.3540C>T (p.Leu1180=) c.3516C>T (p.Leu1172=) c.3510C>T (p.Leu1170=) c.3483C>T (p.Leu1161=) c.3477C>T (p.Leu1159=) c.3471C>T (p.Leu1157=) c.3432C>T (p.Leu1144=) c.3420C>T (p.Leu1140=) c.3363C>T (p.Leu1121=) c.3339C>T (p.Leu1113=) c.3333C>T (p.Leu1111=) c.3315C>T (p.Leu1105=) c.3261C>T (p.Leu1087=) c.2568C>T (p.Leu856=) c.2481C>T (p.Leu827=) n.3757C>T | dbSNP ExAC gnomAD v2 |
17 | g.39727796T>A | CA399313289 | ERBB2 | c.3520T>A (p.Ser1174Thr) c.3430T>A (p.Ser1144Thr) c.2692T>A (p.Ser898Thr) c.3475T>A (p.Ser1159Thr) c.*3310T>A (n.*3310T>A) c.*99T>A (n.*99T>A) n.3844T>A c.3658T>A (p.Ser1220Thr) c.3613T>A (p.Ser1205Thr) c.3568T>A (p.Ser1190Thr) c.3637T>A (p.Ser1213Thr) c.3622T>A (p.Ser1208Thr) c.3601T>A (p.Ser1201Thr) c.3595T>A (p.Ser1199Thr) c.3550T>A (p.Ser1184Thr) c.3541T>A (p.Ser1181Thr) c.3517T>A (p.Ser1173Thr) c.3511T>A (p.Ser1171Thr) c.3484T>A (p.Ser1162Thr) c.3478T>A (p.Ser1160Thr) c.3472T>A (p.Ser1158Thr) c.3433T>A (p.Ser1145Thr) c.3421T>A (p.Ser1141Thr) c.3364T>A (p.Ser1122Thr) c.3340T>A (p.Ser1114Thr) c.3334T>A (p.Ser1112Thr) c.3316T>A (p.Ser1106Thr) c.3262T>A (p.Ser1088Thr) c.2569T>A (p.Ser857Thr) c.2482T>A (p.Ser828Thr) n.3758T>A | |
17 | g.39727796T>C | CA399313283 | ERBB2 | c.3520T>C (p.Ser1174Pro) c.3430T>C (p.Ser1144Pro) c.2692T>C (p.Ser898Pro) c.3475T>C (p.Ser1159Pro) c.*3310T>C (n.*3310T>C) c.*99T>C (n.*99T>C) n.3844T>C c.3658T>C (p.Ser1220Pro) c.3613T>C (p.Ser1205Pro) c.3568T>C (p.Ser1190Pro) c.3637T>C (p.Ser1213Pro) c.3622T>C (p.Ser1208Pro) c.3601T>C (p.Ser1201Pro) c.3595T>C (p.Ser1199Pro) c.3550T>C (p.Ser1184Pro) c.3541T>C (p.Ser1181Pro) c.3517T>C (p.Ser1173Pro) c.3511T>C (p.Ser1171Pro) c.3484T>C (p.Ser1162Pro) c.3478T>C (p.Ser1160Pro) c.3472T>C (p.Ser1158Pro) c.3433T>C (p.Ser1145Pro) c.3421T>C (p.Ser1141Pro) c.3364T>C (p.Ser1122Pro) c.3340T>C (p.Ser1114Pro) c.3334T>C (p.Ser1112Pro) c.3316T>C (p.Ser1106Pro) c.3262T>C (p.Ser1088Pro) c.2569T>C (p.Ser857Pro) c.2482T>C (p.Ser828Pro) n.3758T>C | |
17 | g.39727796T>G | CA399313286 | ERBB2 | c.3520T>G (p.Ser1174Ala) c.3430T>G (p.Ser1144Ala) c.2692T>G (p.Ser898Ala) c.3475T>G (p.Ser1159Ala) c.*3310T>G (n.*3310T>G) c.*99T>G (n.*99T>G) n.3844T>G c.3658T>G (p.Ser1220Ala) c.3613T>G (p.Ser1205Ala) c.3568T>G (p.Ser1190Ala) c.3637T>G (p.Ser1213Ala) c.3622T>G (p.Ser1208Ala) c.3601T>G (p.Ser1201Ala) c.3595T>G (p.Ser1199Ala) c.3550T>G (p.Ser1184Ala) c.3541T>G (p.Ser1181Ala) c.3517T>G (p.Ser1173Ala) c.3511T>G (p.Ser1171Ala) c.3484T>G (p.Ser1162Ala) c.3478T>G (p.Ser1160Ala) c.3472T>G (p.Ser1158Ala) c.3433T>G (p.Ser1145Ala) c.3421T>G (p.Ser1141Ala) c.3364T>G (p.Ser1122Ala) c.3340T>G (p.Ser1114Ala) c.3334T>G (p.Ser1112Ala) c.3316T>G (p.Ser1106Ala) c.3262T>G (p.Ser1088Ala) c.2569T>G (p.Ser857Ala) c.2482T>G (p.Ser828Ala) n.3758T>G | |
17 | g.39727797C>A | CA399313297 | ERBB2 | c.3521C>A (p.Ser1174Tyr) c.3431C>A (p.Ser1144Tyr) c.2693C>A (p.Ser898Tyr) c.3476C>A (p.Ser1159Tyr) c.*3311C>A (n.*3311C>A) c.*100C>A (n.*100C>A) n.3845C>A c.3659C>A (p.Ser1220Tyr) c.3614C>A (p.Ser1205Tyr) c.3569C>A (p.Ser1190Tyr) c.3638C>A (p.Ser1213Tyr) c.3623C>A (p.Ser1208Tyr) c.3602C>A (p.Ser1201Tyr) c.3596C>A (p.Ser1199Tyr) c.3551C>A (p.Ser1184Tyr) c.3542C>A (p.Ser1181Tyr) c.3518C>A (p.Ser1173Tyr) c.3512C>A (p.Ser1171Tyr) c.3485C>A (p.Ser1162Tyr) c.3479C>A (p.Ser1160Tyr) c.3473C>A (p.Ser1158Tyr) c.3434C>A (p.Ser1145Tyr) c.3422C>A (p.Ser1141Tyr) c.3365C>A (p.Ser1122Tyr) c.3341C>A (p.Ser1114Tyr) c.3335C>A (p.Ser1112Tyr) c.3317C>A (p.Ser1106Tyr) c.3263C>A (p.Ser1088Tyr) c.2570C>A (p.Ser857Tyr) c.2483C>A (p.Ser828Tyr) n.3759C>A | dbSNP |
17 | g.39727797C= | CA2259229264 | ERBB2 | c.3521C= (p.Ser1174=) c.3431C= (p.Ser1144=) c.2693C= (p.Ser898=) c.3476C= (p.Ser1159=) c.*3311C= (n.*3311C=) c.*100C= (n.*100C=) n.3845C= c.3659C= (p.Ser1220=) c.3614C= (p.Ser1205=) c.3569C= (p.Ser1190=) c.3638C= (p.Ser1213=) c.3623C= (p.Ser1208=) c.3602C= (p.Ser1201=) c.3596C= (p.Ser1199=) c.3551C= (p.Ser1184=) c.3542C= (p.Ser1181=) c.3518C= (p.Ser1173=) c.3512C= (p.Ser1171=) c.3485C= (p.Ser1162=) c.3479C= (p.Ser1160=) c.3473C= (p.Ser1158=) c.3434C= (p.Ser1145=) c.3422C= (p.Ser1141=) c.3365C= (p.Ser1122=) c.3341C= (p.Ser1114=) c.3335C= (p.Ser1112=) c.3317C= (p.Ser1106=) c.3263C= (p.Ser1088=) c.2570C= (p.Ser857=) c.2483C= (p.Ser828=) n.3759C= | |
17 | g.39727797C>G | CA399313300 | ERBB2 | c.3521C>G (p.Ser1174Cys) c.3431C>G (p.Ser1144Cys) c.2693C>G (p.Ser898Cys) c.3476C>G (p.Ser1159Cys) c.*3311C>G (n.*3311C>G) c.*100C>G (n.*100C>G) n.3845C>G c.3659C>G (p.Ser1220Cys) c.3614C>G (p.Ser1205Cys) c.3569C>G (p.Ser1190Cys) c.3638C>G (p.Ser1213Cys) c.3623C>G (p.Ser1208Cys) c.3602C>G (p.Ser1201Cys) c.3596C>G (p.Ser1199Cys) c.3551C>G (p.Ser1184Cys) c.3542C>G (p.Ser1181Cys) c.3518C>G (p.Ser1173Cys) c.3512C>G (p.Ser1171Cys) c.3485C>G (p.Ser1162Cys) c.3479C>G (p.Ser1160Cys) c.3473C>G (p.Ser1158Cys) c.3434C>G (p.Ser1145Cys) c.3422C>G (p.Ser1141Cys) c.3365C>G (p.Ser1122Cys) c.3341C>G (p.Ser1114Cys) c.3335C>G (p.Ser1112Cys) c.3317C>G (p.Ser1106Cys) c.3263C>G (p.Ser1088Cys) c.2570C>G (p.Ser857Cys) c.2483C>G (p.Ser828Cys) n.3759C>G | ClinVar dbSNP gnomAD v4 |
17 | g.39727797C>T | CA399313302 | ERBB2 | c.3521C>T (p.Ser1174Phe) c.3431C>T (p.Ser1144Phe) c.2693C>T (p.Ser898Phe) c.3476C>T (p.Ser1159Phe) c.*3311C>T (n.*3311C>T) c.*100C>T (n.*100C>T) n.3845C>T c.3659C>T (p.Ser1220Phe) c.3614C>T (p.Ser1205Phe) c.3569C>T (p.Ser1190Phe) c.3638C>T (p.Ser1213Phe) c.3623C>T (p.Ser1208Phe) c.3602C>T (p.Ser1201Phe) c.3596C>T (p.Ser1199Phe) c.3551C>T (p.Ser1184Phe) c.3542C>T (p.Ser1181Phe) c.3518C>T (p.Ser1173Phe) c.3512C>T (p.Ser1171Phe) c.3485C>T (p.Ser1162Phe) c.3479C>T (p.Ser1160Phe) c.3473C>T (p.Ser1158Phe) c.3434C>T (p.Ser1145Phe) c.3422C>T (p.Ser1141Phe) c.3365C>T (p.Ser1122Phe) c.3341C>T (p.Ser1114Phe) c.3335C>T (p.Ser1112Phe) c.3317C>T (p.Ser1106Phe) c.3263C>T (p.Ser1088Phe) c.2570C>T (p.Ser857Phe) c.2483C>T (p.Ser828Phe) n.3759C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727798C>A | CA499890693 | ERBB2 | c.3522C>A (p.Ser1174=) c.3432C>A (p.Ser1144=) c.2694C>A (p.Ser898=) c.3477C>A (p.Ser1159=) c.*3312C>A (n.*3312C>A) c.*101C>A (n.*101C>A) n.3846C>A c.3660C>A (p.Ser1220=) c.3615C>A (p.Ser1205=) c.3570C>A (p.Ser1190=) c.3639C>A (p.Ser1213=) c.3624C>A (p.Ser1208=) c.3603C>A (p.Ser1201=) c.3597C>A (p.Ser1199=) c.3552C>A (p.Ser1184=) c.3543C>A (p.Ser1181=) c.3519C>A (p.Ser1173=) c.3513C>A (p.Ser1171=) c.3486C>A (p.Ser1162=) c.3480C>A (p.Ser1160=) c.3474C>A (p.Ser1158=) c.3435C>A (p.Ser1145=) c.3423C>A (p.Ser1141=) c.3366C>A (p.Ser1122=) c.3342C>A (p.Ser1114=) c.3336C>A (p.Ser1112=) c.3318C>A (p.Ser1106=) c.3264C>A (p.Ser1088=) c.2571C>A (p.Ser857=) c.2484C>A (p.Ser828=) n.3760C>A | dbSNP |
17 | g.39727798C>G | CA499890694 | ERBB2 | c.3522C>G (p.Ser1174=) c.3432C>G (p.Ser1144=) c.2694C>G (p.Ser898=) c.3477C>G (p.Ser1159=) c.*3312C>G (n.*3312C>G) c.*101C>G (n.*101C>G) n.3846C>G c.3660C>G (p.Ser1220=) c.3615C>G (p.Ser1205=) c.3570C>G (p.Ser1190=) c.3639C>G (p.Ser1213=) c.3624C>G (p.Ser1208=) c.3603C>G (p.Ser1201=) c.3597C>G (p.Ser1199=) c.3552C>G (p.Ser1184=) c.3543C>G (p.Ser1181=) c.3519C>G (p.Ser1173=) c.3513C>G (p.Ser1171=) c.3486C>G (p.Ser1162=) c.3480C>G (p.Ser1160=) c.3474C>G (p.Ser1158=) c.3435C>G (p.Ser1145=) c.3423C>G (p.Ser1141=) c.3366C>G (p.Ser1122=) c.3342C>G (p.Ser1114=) c.3336C>G (p.Ser1112=) c.3318C>G (p.Ser1106=) c.3264C>G (p.Ser1088=) c.2571C>G (p.Ser857=) c.2484C>G (p.Ser828=) n.3760C>G | dbSNP |
17 | g.39727798C>T | CA499890696 | ERBB2 | c.3522C>T (p.Ser1174=) c.3432C>T (p.Ser1144=) c.2694C>T (p.Ser898=) c.3477C>T (p.Ser1159=) c.*3312C>T (n.*3312C>T) c.*101C>T (n.*101C>T) n.3846C>T c.3660C>T (p.Ser1220=) c.3615C>T (p.Ser1205=) c.3570C>T (p.Ser1190=) c.3639C>T (p.Ser1213=) c.3624C>T (p.Ser1208=) c.3603C>T (p.Ser1201=) c.3597C>T (p.Ser1199=) c.3552C>T (p.Ser1184=) c.3543C>T (p.Ser1181=) c.3519C>T (p.Ser1173=) c.3513C>T (p.Ser1171=) c.3486C>T (p.Ser1162=) c.3480C>T (p.Ser1160=) c.3474C>T (p.Ser1158=) c.3435C>T (p.Ser1145=) c.3423C>T (p.Ser1141=) c.3366C>T (p.Ser1122=) c.3342C>T (p.Ser1114=) c.3336C>T (p.Ser1112=) c.3318C>T (p.Ser1106=) c.3264C>T (p.Ser1088=) c.2571C>T (p.Ser857=) c.2484C>T (p.Ser828=) n.3760C>T | dbSNP gnomAD v4 |
17 | g.39727799C>A | CA399313304 | ERBB2 | c.3523C>A (p.Pro1175Thr) c.3433C>A (p.Pro1145Thr) c.2695C>A (p.Pro899Thr) c.3478C>A (p.Pro1160Thr) c.*3313C>A (n.*3313C>A) c.*102C>A (n.*102C>A) n.3847C>A c.3661C>A (p.Pro1221Thr) c.3616C>A (p.Pro1206Thr) c.3571C>A (p.Pro1191Thr) c.3640C>A (p.Pro1214Thr) c.3625C>A (p.Pro1209Thr) c.3604C>A (p.Pro1202Thr) c.3598C>A (p.Pro1200Thr) c.3553C>A (p.Pro1185Thr) c.3544C>A (p.Pro1182Thr) c.3520C>A (p.Pro1174Thr) c.3514C>A (p.Pro1172Thr) c.3487C>A (p.Pro1163Thr) c.3481C>A (p.Pro1161Thr) c.3475C>A (p.Pro1159Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3367C>A (p.Pro1123Thr) c.3343C>A (p.Pro1115Thr) c.3337C>A (p.Pro1113Thr) c.3319C>A (p.Pro1107Thr) c.3265C>A (p.Pro1089Thr) c.2572C>A (p.Pro858Thr) c.2485C>A (p.Pro829Thr) n.3761C>A | dbSNP |
17 | g.39727799C= | CA2259229265 | ERBB2 | c.3523C= (p.Pro1175=) c.3433C= (p.Pro1145=) c.2695C= (p.Pro899=) c.3478C= (p.Pro1160=) c.*3313C= (n.*3313C=) c.*102C= (n.*102C=) n.3847C= c.3661C= (p.Pro1221=) c.3616C= (p.Pro1206=) c.3571C= (p.Pro1191=) c.3640C= (p.Pro1214=) c.3625C= (p.Pro1209=) c.3604C= (p.Pro1202=) c.3598C= (p.Pro1200=) c.3553C= (p.Pro1185=) c.3544C= (p.Pro1182=) c.3520C= (p.Pro1174=) c.3514C= (p.Pro1172=) c.3487C= (p.Pro1163=) c.3481C= (p.Pro1161=) c.3475C= (p.Pro1159=) c.3436C= (p.Pro1146=) c.3424C= (p.Pro1142=) c.3367C= (p.Pro1123=) c.3343C= (p.Pro1115=) c.3337C= (p.Pro1113=) c.3319C= (p.Pro1107=) c.3265C= (p.Pro1089=) c.2572C= (p.Pro858=) c.2485C= (p.Pro829=) n.3761C= | |
17 | g.39727799C>G | CA399313307 | ERBB2 | c.3523C>G (p.Pro1175Ala) c.3433C>G (p.Pro1145Ala) c.2695C>G (p.Pro899Ala) c.3478C>G (p.Pro1160Ala) c.*3313C>G (n.*3313C>G) c.*102C>G (n.*102C>G) n.3847C>G c.3661C>G (p.Pro1221Ala) c.3616C>G (p.Pro1206Ala) c.3571C>G (p.Pro1191Ala) c.3640C>G (p.Pro1214Ala) c.3625C>G (p.Pro1209Ala) c.3604C>G (p.Pro1202Ala) c.3598C>G (p.Pro1200Ala) c.3553C>G (p.Pro1185Ala) c.3544C>G (p.Pro1182Ala) c.3520C>G (p.Pro1174Ala) c.3514C>G (p.Pro1172Ala) c.3487C>G (p.Pro1163Ala) c.3481C>G (p.Pro1161Ala) c.3475C>G (p.Pro1159Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3367C>G (p.Pro1123Ala) c.3343C>G (p.Pro1115Ala) c.3337C>G (p.Pro1113Ala) c.3319C>G (p.Pro1107Ala) c.3265C>G (p.Pro1089Ala) c.2572C>G (p.Pro858Ala) c.2485C>G (p.Pro829Ala) n.3761C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727799C>T | CA399313310 | ERBB2 | c.3523C>T (p.Pro1175Ser) c.3433C>T (p.Pro1145Ser) c.2695C>T (p.Pro899Ser) c.3478C>T (p.Pro1160Ser) c.*3313C>T (n.*3313C>T) c.*102C>T (n.*102C>T) n.3847C>T c.3661C>T (p.Pro1221Ser) c.3616C>T (p.Pro1206Ser) c.3571C>T (p.Pro1191Ser) c.3640C>T (p.Pro1214Ser) c.3625C>T (p.Pro1209Ser) c.3604C>T (p.Pro1202Ser) c.3598C>T (p.Pro1200Ser) c.3553C>T (p.Pro1185Ser) c.3544C>T (p.Pro1182Ser) c.3520C>T (p.Pro1174Ser) c.3514C>T (p.Pro1172Ser) c.3487C>T (p.Pro1163Ser) c.3481C>T (p.Pro1161Ser) c.3475C>T (p.Pro1159Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3367C>T (p.Pro1123Ser) c.3343C>T (p.Pro1115Ser) c.3337C>T (p.Pro1113Ser) c.3319C>T (p.Pro1107Ser) c.3265C>T (p.Pro1089Ser) c.2572C>T (p.Pro858Ser) c.2485C>T (p.Pro829Ser) n.3761C>T | dbSNP |
17 | g.39727800C>A | CA399313314 | ERBB2 | c.3524C>A (p.Pro1175Gln) c.3434C>A (p.Pro1145Gln) c.2696C>A (p.Pro899Gln) c.3479C>A (p.Pro1160Gln) c.*3314C>A (n.*3314C>A) c.*103C>A (n.*103C>A) n.3848C>A c.3662C>A (p.Pro1221Gln) c.3617C>A (p.Pro1206Gln) c.3572C>A (p.Pro1191Gln) c.3641C>A (p.Pro1214Gln) c.3626C>A (p.Pro1209Gln) c.3605C>A (p.Pro1202Gln) c.3599C>A (p.Pro1200Gln) c.3554C>A (p.Pro1185Gln) c.3545C>A (p.Pro1182Gln) c.3521C>A (p.Pro1174Gln) c.3515C>A (p.Pro1172Gln) c.3488C>A (p.Pro1163Gln) c.3482C>A (p.Pro1161Gln) c.3476C>A (p.Pro1159Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3368C>A (p.Pro1123Gln) c.3344C>A (p.Pro1115Gln) c.3338C>A (p.Pro1113Gln) c.3320C>A (p.Pro1107Gln) c.3266C>A (p.Pro1089Gln) c.2573C>A (p.Pro858Gln) c.2486C>A (p.Pro829Gln) n.3762C>A | dbSNP |
17 | g.39727800C= | CA2259229266 | ERBB2 | c.3524C= (p.Pro1175=) c.3434C= (p.Pro1145=) c.2696C= (p.Pro899=) c.3479C= (p.Pro1160=) c.*3314C= (n.*3314C=) c.*103C= (n.*103C=) n.3848C= c.3662C= (p.Pro1221=) c.3617C= (p.Pro1206=) c.3572C= (p.Pro1191=) c.3641C= (p.Pro1214=) c.3626C= (p.Pro1209=) c.3605C= (p.Pro1202=) c.3599C= (p.Pro1200=) c.3554C= (p.Pro1185=) c.3545C= (p.Pro1182=) c.3521C= (p.Pro1174=) c.3515C= (p.Pro1172=) c.3488C= (p.Pro1163=) c.3482C= (p.Pro1161=) c.3476C= (p.Pro1159=) c.3437C= (p.Pro1146=) c.3425C= (p.Pro1142=) c.3368C= (p.Pro1123=) c.3344C= (p.Pro1115=) c.3338C= (p.Pro1113=) c.3320C= (p.Pro1107=) c.3266C= (p.Pro1089=) c.2573C= (p.Pro858=) c.2486C= (p.Pro829=) n.3762C= | |
17 | g.39727800C>G | CA399313317 | ERBB2 | c.3524C>G (p.Pro1175Arg) c.3434C>G (p.Pro1145Arg) c.2696C>G (p.Pro899Arg) c.3479C>G (p.Pro1160Arg) c.*3314C>G (n.*3314C>G) c.*103C>G (n.*103C>G) n.3848C>G c.3662C>G (p.Pro1221Arg) c.3617C>G (p.Pro1206Arg) c.3572C>G (p.Pro1191Arg) c.3641C>G (p.Pro1214Arg) c.3626C>G (p.Pro1209Arg) c.3605C>G (p.Pro1202Arg) c.3599C>G (p.Pro1200Arg) c.3554C>G (p.Pro1185Arg) c.3545C>G (p.Pro1182Arg) c.3521C>G (p.Pro1174Arg) c.3515C>G (p.Pro1172Arg) c.3488C>G (p.Pro1163Arg) c.3482C>G (p.Pro1161Arg) c.3476C>G (p.Pro1159Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3368C>G (p.Pro1123Arg) c.3344C>G (p.Pro1115Arg) c.3338C>G (p.Pro1113Arg) c.3320C>G (p.Pro1107Arg) c.3266C>G (p.Pro1089Arg) c.2573C>G (p.Pro858Arg) c.2486C>G (p.Pro829Arg) n.3762C>G | dbSNP COSMIC |
17 | g.39727800C>T | CA399313320 | ERBB2 | c.3524C>T (p.Pro1175Leu) c.3434C>T (p.Pro1145Leu) c.2696C>T (p.Pro899Leu) c.3479C>T (p.Pro1160Leu) c.*3314C>T (n.*3314C>T) c.*103C>T (n.*103C>T) n.3848C>T c.3662C>T (p.Pro1221Leu) c.3617C>T (p.Pro1206Leu) c.3572C>T (p.Pro1191Leu) c.3641C>T (p.Pro1214Leu) c.3626C>T (p.Pro1209Leu) c.3605C>T (p.Pro1202Leu) c.3599C>T (p.Pro1200Leu) c.3554C>T (p.Pro1185Leu) c.3545C>T (p.Pro1182Leu) c.3521C>T (p.Pro1174Leu) c.3515C>T (p.Pro1172Leu) c.3488C>T (p.Pro1163Leu) c.3482C>T (p.Pro1161Leu) c.3476C>T (p.Pro1159Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3368C>T (p.Pro1123Leu) c.3344C>T (p.Pro1115Leu) c.3338C>T (p.Pro1113Leu) c.3320C>T (p.Pro1107Leu) c.3266C>T (p.Pro1089Leu) c.2573C>T (p.Pro858Leu) c.2486C>T (p.Pro829Leu) n.3762C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727801A= | CA2259229268 | ERBB2 | c.3525A= (p.Pro1175=) c.3435A= (p.Pro1145=) c.2697A= (p.Pro899=) c.3480A= (p.Pro1160=) c.*3315A= (n.*3315A=) c.*104A= (n.*104A=) n.3849A= c.3663A= (p.Pro1221=) c.3618A= (p.Pro1206=) c.3573A= (p.Pro1191=) c.3642A= (p.Pro1214=) c.3627A= (p.Pro1209=) c.3606A= (p.Pro1202=) c.3600A= (p.Pro1200=) c.3555A= (p.Pro1185=) c.3546A= (p.Pro1182=) c.3522A= (p.Pro1174=) c.3516A= (p.Pro1172=) c.3489A= (p.Pro1163=) c.3483A= (p.Pro1161=) c.3477A= (p.Pro1159=) c.3438A= (p.Pro1146=) c.3426A= (p.Pro1142=) c.3369A= (p.Pro1123=) c.3345A= (p.Pro1115=) c.3339A= (p.Pro1113=) c.3321A= (p.Pro1107=) c.3267A= (p.Pro1089=) c.2574A= (p.Pro858=) c.2487A= (p.Pro829=) n.3763A= | |
17 | g.39727801A>C | CA499890700 | ERBB2 | c.3525A>C (p.Pro1175=) c.3435A>C (p.Pro1145=) c.2697A>C (p.Pro899=) c.3480A>C (p.Pro1160=) c.*3315A>C (n.*3315A>C) c.*104A>C (n.*104A>C) n.3849A>C c.3663A>C (p.Pro1221=) c.3618A>C (p.Pro1206=) c.3573A>C (p.Pro1191=) c.3642A>C (p.Pro1214=) c.3627A>C (p.Pro1209=) c.3606A>C (p.Pro1202=) c.3600A>C (p.Pro1200=) c.3555A>C (p.Pro1185=) c.3546A>C (p.Pro1182=) c.3522A>C (p.Pro1174=) c.3516A>C (p.Pro1172=) c.3489A>C (p.Pro1163=) c.3483A>C (p.Pro1161=) c.3477A>C (p.Pro1159=) c.3438A>C (p.Pro1146=) c.3426A>C (p.Pro1142=) c.3369A>C (p.Pro1123=) c.3345A>C (p.Pro1115=) c.3339A>C (p.Pro1113=) c.3321A>C (p.Pro1107=) c.3267A>C (p.Pro1089=) c.2574A>C (p.Pro858=) c.2487A>C (p.Pro829=) n.3763A>C | dbSNP |
17 | g.39727801A>G | CA499890701 | ERBB2 | c.3525A>G (p.Pro1175=) c.3435A>G (p.Pro1145=) c.2697A>G (p.Pro899=) c.3480A>G (p.Pro1160=) c.*3315A>G (n.*3315A>G) c.*104A>G (n.*104A>G) n.3849A>G c.3663A>G (p.Pro1221=) c.3618A>G (p.Pro1206=) c.3573A>G (p.Pro1191=) c.3642A>G (p.Pro1214=) c.3627A>G (p.Pro1209=) c.3606A>G (p.Pro1202=) c.3600A>G (p.Pro1200=) c.3555A>G (p.Pro1185=) c.3546A>G (p.Pro1182=) c.3522A>G (p.Pro1174=) c.3516A>G (p.Pro1172=) c.3489A>G (p.Pro1163=) c.3483A>G (p.Pro1161=) c.3477A>G (p.Pro1159=) c.3438A>G (p.Pro1146=) c.3426A>G (p.Pro1142=) c.3369A>G (p.Pro1123=) c.3345A>G (p.Pro1115=) c.3339A>G (p.Pro1113=) c.3321A>G (p.Pro1107=) c.3267A>G (p.Pro1089=) c.2574A>G (p.Pro858=) c.2487A>G (p.Pro829=) n.3763A>G | dbSNP gnomAD v4 |
17 | g.39727801A>T | CA499890702 | ERBB2 | c.3525A>T (p.Pro1175=) c.3435A>T (p.Pro1145=) c.2697A>T (p.Pro899=) c.3480A>T (p.Pro1160=) c.*3315A>T (n.*3315A>T) c.*104A>T (n.*104A>T) n.3849A>T c.3663A>T (p.Pro1221=) c.3618A>T (p.Pro1206=) c.3573A>T (p.Pro1191=) c.3642A>T (p.Pro1214=) c.3627A>T (p.Pro1209=) c.3606A>T (p.Pro1202=) c.3600A>T (p.Pro1200=) c.3555A>T (p.Pro1185=) c.3546A>T (p.Pro1182=) c.3522A>T (p.Pro1174=) c.3516A>T (p.Pro1172=) c.3489A>T (p.Pro1163=) c.3483A>T (p.Pro1161=) c.3477A>T (p.Pro1159=) c.3438A>T (p.Pro1146=) c.3426A>T (p.Pro1142=) c.3369A>T (p.Pro1123=) c.3345A>T (p.Pro1115=) c.3339A>T (p.Pro1113=) c.3321A>T (p.Pro1107=) c.3267A>T (p.Pro1089=) c.2574A>T (p.Pro858=) c.2487A>T (p.Pro829=) n.3763A>T | |
17 | g.39727801_39727802delinsAG | CA2259229267 | ERBB2 | c.3525_3526delinsAG (p.Pro1175=) c.3435_3436delinsAG (p.Pro1145=) c.2697_2698delinsAG (p.Pro899=) c.3480_3481delinsAG (p.Pro1160=) c.*3315_*3316delinsAG (n.*3315_*3316delinsAG) c.*104_*105delinsAG (n.*104_*105delinsAG) n.3849_3850delinsAG c.3663_3664delinsAG (p.Pro1221=) c.3618_3619delinsAG (p.Pro1206=) c.3573_3574delinsAG (p.Pro1191=) c.3642_3643delinsAG (p.Pro1214=) c.3627_3628delinsAG (p.Pro1209=) c.3606_3607delinsAG (p.Pro1202=) c.3600_3601delinsAG (p.Pro1200=) c.3555_3556delinsAG (p.Pro1185=) c.3546_3547delinsAG (p.Pro1182=) c.3522_3523delinsAG (p.Pro1174=) c.3516_3517delinsAG (p.Pro1172=) c.3489_3490delinsAG (p.Pro1163=) c.3483_3484delinsAG (p.Pro1161=) c.3477_3478delinsAG (p.Pro1159=) c.3438_3439delinsAG (p.Pro1146=) c.3426_3427delinsAG (p.Pro1142=) c.3369_3370delinsAG (p.Pro1123=) c.3345_3346delinsAG (p.Pro1115=) c.3339_3340delinsAG (p.Pro1113=) c.3321_3322delinsAG (p.Pro1107=) c.3267_3268delinsAG (p.Pro1089=) c.2574_2575delinsAG (p.Pro858=) c.2487_2488delinsAG (p.Pro829=) n.3763_3764delinsAG | |
17 | g.39727802G>A | CA399313324 | ERBB2 | c.3526G>A (p.Gly1176Arg) c.3436G>A (p.Gly1146Arg) c.2698G>A (p.Gly900Arg) c.3481G>A (p.Gly1161Arg) c.*3316G>A (n.*3316G>A) c.*105G>A (n.*105G>A) n.3850G>A c.3664G>A (p.Gly1222Arg) c.3619G>A (p.Gly1207Arg) c.3574G>A (p.Gly1192Arg) c.3643G>A (p.Gly1215Arg) c.3628G>A (p.Gly1210Arg) c.3607G>A (p.Gly1203Arg) c.3601G>A (p.Gly1201Arg) c.3556G>A (p.Gly1186Arg) c.3547G>A (p.Gly1183Arg) c.3523G>A (p.Gly1175Arg) c.3517G>A (p.Gly1173Arg) c.3490G>A (p.Gly1164Arg) c.3484G>A (p.Gly1162Arg) c.3478G>A (p.Gly1160Arg) c.3439G>A (p.Gly1147Arg) c.3427G>A (p.Gly1143Arg) c.3370G>A (p.Gly1124Arg) c.3346G>A (p.Gly1116Arg) c.3340G>A (p.Gly1114Arg) c.3322G>A (p.Gly1108Arg) c.3268G>A (p.Gly1090Arg) c.2575G>A (p.Gly859Arg) c.2488G>A (p.Gly830Arg) n.3764G>A | dbSNP |
17 | g.39727802G>C | CA399313326 | ERBB2 | c.3526G>C (p.Gly1176Arg) c.3436G>C (p.Gly1146Arg) c.2698G>C (p.Gly900Arg) c.3481G>C (p.Gly1161Arg) c.*3316G>C (n.*3316G>C) c.*105G>C (n.*105G>C) n.3850G>C c.3664G>C (p.Gly1222Arg) c.3619G>C (p.Gly1207Arg) c.3574G>C (p.Gly1192Arg) c.3643G>C (p.Gly1215Arg) c.3628G>C (p.Gly1210Arg) c.3607G>C (p.Gly1203Arg) c.3601G>C (p.Gly1201Arg) c.3556G>C (p.Gly1186Arg) c.3547G>C (p.Gly1183Arg) c.3523G>C (p.Gly1175Arg) c.3517G>C (p.Gly1173Arg) c.3490G>C (p.Gly1164Arg) c.3484G>C (p.Gly1162Arg) c.3478G>C (p.Gly1160Arg) c.3439G>C (p.Gly1147Arg) c.3427G>C (p.Gly1143Arg) c.3370G>C (p.Gly1124Arg) c.3346G>C (p.Gly1116Arg) c.3340G>C (p.Gly1114Arg) c.3322G>C (p.Gly1108Arg) c.3268G>C (p.Gly1090Arg) c.2575G>C (p.Gly859Arg) c.2488G>C (p.Gly830Arg) n.3764G>C | dbSNP |
17 | g.39727802G>T | CA399313330 | ERBB2 | c.3526G>T (p.Gly1176Trp) c.3436G>T (p.Gly1146Trp) c.2698G>T (p.Gly900Trp) c.3481G>T (p.Gly1161Trp) c.*3316G>T (n.*3316G>T) c.*105G>T (n.*105G>T) n.3850G>T c.3664G>T (p.Gly1222Trp) c.3619G>T (p.Gly1207Trp) c.3574G>T (p.Gly1192Trp) c.3643G>T (p.Gly1215Trp) c.3628G>T (p.Gly1210Trp) c.3607G>T (p.Gly1203Trp) c.3601G>T (p.Gly1201Trp) c.3556G>T (p.Gly1186Trp) c.3547G>T (p.Gly1183Trp) c.3523G>T (p.Gly1175Trp) c.3517G>T (p.Gly1173Trp) c.3490G>T (p.Gly1164Trp) c.3484G>T (p.Gly1162Trp) c.3478G>T (p.Gly1160Trp) c.3439G>T (p.Gly1147Trp) c.3427G>T (p.Gly1143Trp) c.3370G>T (p.Gly1124Trp) c.3346G>T (p.Gly1116Trp) c.3340G>T (p.Gly1114Trp) c.3322G>T (p.Gly1108Trp) c.3268G>T (p.Gly1090Trp) c.2575G>T (p.Gly859Trp) c.2488G>T (p.Gly830Trp) n.3764G>T | dbSNP |
17 | g.39727804del | CA626209437 | ERBB2 | c.3528del (p.Lys1177ArgfsTer21) c.3438del (p.Lys1147ArgfsTer21) c.2700del (p.Lys901ArgfsTer21) c.3483del (p.Lys1162ArgfsTer21) c.*3318del (n.*3318del) c.*107del (n.*107del) n.3852del c.3666del (p.Lys1223ArgfsTer21) c.3621del (p.Lys1208ArgfsTer21) c.3576del (p.Lys1193ArgfsTer21) c.3645del (p.Lys1216ArgfsTer21) c.3630del (p.Lys1211ArgfsTer21) c.3609del (p.Lys1204ArgfsTer21) c.3603del (p.Lys1202ArgfsTer21) c.3558del (p.Lys1187ArgfsTer21) c.3549del (p.Lys1184ArgfsTer21) c.3525del (p.Lys1176ArgfsTer21) c.3519del (p.Lys1174ArgfsTer21) c.3492del (p.Lys1165ArgfsTer21) c.3486del (p.Lys1163ArgfsTer21) c.3480del (p.Lys1161ArgfsTer21) c.3441del (p.Lys1148ArgfsTer21) c.3429del (p.Lys1144ArgfsTer21) c.3372del (p.Lys1125ArgfsTer21) c.3348del (p.Lys1117ArgfsTer21) c.3342del (p.Lys1115ArgfsTer21) c.3324del (p.Lys1109ArgfsTer21) c.3270del (p.Lys1091ArgfsTer21) c.2577del (p.Lys860ArgfsTer21) c.2490del (p.Lys831ArgfsTer21) n.3766del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727803G>A | CA399313337 | ERBB2 | c.3527G>A (p.Gly1176Glu) c.3437G>A (p.Gly1146Glu) c.2699G>A (p.Gly900Glu) c.3482G>A (p.Gly1161Glu) c.*3317G>A (n.*3317G>A) c.*106G>A (n.*106G>A) n.3851G>A c.3665G>A (p.Gly1222Glu) c.3620G>A (p.Gly1207Glu) c.3575G>A (p.Gly1192Glu) c.3644G>A (p.Gly1215Glu) c.3629G>A (p.Gly1210Glu) c.3608G>A (p.Gly1203Glu) c.3602G>A (p.Gly1201Glu) c.3557G>A (p.Gly1186Glu) c.3548G>A (p.Gly1183Glu) c.3524G>A (p.Gly1175Glu) c.3518G>A (p.Gly1173Glu) c.3491G>A (p.Gly1164Glu) c.3485G>A (p.Gly1162Glu) c.3479G>A (p.Gly1160Glu) c.3440G>A (p.Gly1147Glu) c.3428G>A (p.Gly1143Glu) c.3371G>A (p.Gly1124Glu) c.3347G>A (p.Gly1116Glu) c.3341G>A (p.Gly1114Glu) c.3323G>A (p.Gly1108Glu) c.3269G>A (p.Gly1090Glu) c.2576G>A (p.Gly859Glu) c.2489G>A (p.Gly830Glu) n.3765G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727803G>C | CA399313340 | ERBB2 | c.3527G>C (p.Gly1176Ala) c.3437G>C (p.Gly1146Ala) c.2699G>C (p.Gly900Ala) c.3482G>C (p.Gly1161Ala) c.*3317G>C (n.*3317G>C) c.*106G>C (n.*106G>C) n.3851G>C c.3665G>C (p.Gly1222Ala) c.3620G>C (p.Gly1207Ala) c.3575G>C (p.Gly1192Ala) c.3644G>C (p.Gly1215Ala) c.3629G>C (p.Gly1210Ala) c.3608G>C (p.Gly1203Ala) c.3602G>C (p.Gly1201Ala) c.3557G>C (p.Gly1186Ala) c.3548G>C (p.Gly1183Ala) c.3524G>C (p.Gly1175Ala) c.3518G>C (p.Gly1173Ala) c.3491G>C (p.Gly1164Ala) c.3485G>C (p.Gly1162Ala) c.3479G>C (p.Gly1160Ala) c.3440G>C (p.Gly1147Ala) c.3428G>C (p.Gly1143Ala) c.3371G>C (p.Gly1124Ala) c.3347G>C (p.Gly1116Ala) c.3341G>C (p.Gly1114Ala) c.3323G>C (p.Gly1108Ala) c.3269G>C (p.Gly1090Ala) c.2576G>C (p.Gly859Ala) c.2489G>C (p.Gly830Ala) n.3765G>C | |
17 | g.39727803G= | CA2259229269 | ERBB2 | c.3527G= (p.Gly1176=) c.3437G= (p.Gly1146=) c.2699G= (p.Gly900=) c.3482G= (p.Gly1161=) c.*3317G= (n.*3317G=) c.*106G= (n.*106G=) n.3851G= c.3665G= (p.Gly1222=) c.3620G= (p.Gly1207=) c.3575G= (p.Gly1192=) c.3644G= (p.Gly1215=) c.3629G= (p.Gly1210=) c.3608G= (p.Gly1203=) c.3602G= (p.Gly1201=) c.3557G= (p.Gly1186=) c.3548G= (p.Gly1183=) c.3524G= (p.Gly1175=) c.3518G= (p.Gly1173=) c.3491G= (p.Gly1164=) c.3485G= (p.Gly1162=) c.3479G= (p.Gly1160=) c.3440G= (p.Gly1147=) c.3428G= (p.Gly1143=) c.3371G= (p.Gly1124=) c.3347G= (p.Gly1116=) c.3341G= (p.Gly1114=) c.3323G= (p.Gly1108=) c.3269G= (p.Gly1090=) c.2576G= (p.Gly859=) c.2489G= (p.Gly830=) n.3765G= | |
17 | g.39727803G>T | CA399313335 | ERBB2 | c.3527G>T (p.Gly1176Val) c.3437G>T (p.Gly1146Val) c.2699G>T (p.Gly900Val) c.3482G>T (p.Gly1161Val) c.*3317G>T (n.*3317G>T) c.*106G>T (n.*106G>T) n.3851G>T c.3665G>T (p.Gly1222Val) c.3620G>T (p.Gly1207Val) c.3575G>T (p.Gly1192Val) c.3644G>T (p.Gly1215Val) c.3629G>T (p.Gly1210Val) c.3608G>T (p.Gly1203Val) c.3602G>T (p.Gly1201Val) c.3557G>T (p.Gly1186Val) c.3548G>T (p.Gly1183Val) c.3524G>T (p.Gly1175Val) c.3518G>T (p.Gly1173Val) c.3491G>T (p.Gly1164Val) c.3485G>T (p.Gly1162Val) c.3479G>T (p.Gly1160Val) c.3440G>T (p.Gly1147Val) c.3428G>T (p.Gly1143Val) c.3371G>T (p.Gly1124Val) c.3347G>T (p.Gly1116Val) c.3341G>T (p.Gly1114Val) c.3323G>T (p.Gly1108Val) c.3269G>T (p.Gly1090Val) c.2576G>T (p.Gly859Val) c.2489G>T (p.Gly830Val) n.3765G>T | dbSNP |
17 | g.39727804G>A | CA499890708 | ERBB2 | c.3528G>A (p.Gly1176=) c.3438G>A (p.Gly1146=) c.2700G>A (p.Gly900=) c.3483G>A (p.Gly1161=) c.*3318G>A (n.*3318G>A) c.*107G>A (n.*107G>A) n.3852G>A c.3666G>A (p.Gly1222=) c.3621G>A (p.Gly1207=) c.3576G>A (p.Gly1192=) c.3645G>A (p.Gly1215=) c.3630G>A (p.Gly1210=) c.3609G>A (p.Gly1203=) c.3603G>A (p.Gly1201=) c.3558G>A (p.Gly1186=) c.3549G>A (p.Gly1183=) c.3525G>A (p.Gly1175=) c.3519G>A (p.Gly1173=) c.3492G>A (p.Gly1164=) c.3486G>A (p.Gly1162=) c.3480G>A (p.Gly1160=) c.3441G>A (p.Gly1147=) c.3429G>A (p.Gly1143=) c.3372G>A (p.Gly1124=) c.3348G>A (p.Gly1116=) c.3342G>A (p.Gly1114=) c.3324G>A (p.Gly1108=) c.3270G>A (p.Gly1090=) c.2577G>A (p.Gly859=) c.2490G>A (p.Gly830=) n.3766G>A | dbSNP gnomAD v4 |
17 | g.39727804G>C | CA499890709 | ERBB2 | c.3528G>C (p.Gly1176=) c.3438G>C (p.Gly1146=) c.2700G>C (p.Gly900=) c.3483G>C (p.Gly1161=) c.*3318G>C (n.*3318G>C) c.*107G>C (n.*107G>C) n.3852G>C c.3666G>C (p.Gly1222=) c.3621G>C (p.Gly1207=) c.3576G>C (p.Gly1192=) c.3645G>C (p.Gly1215=) c.3630G>C (p.Gly1210=) c.3609G>C (p.Gly1203=) c.3603G>C (p.Gly1201=) c.3558G>C (p.Gly1186=) c.3549G>C (p.Gly1183=) c.3525G>C (p.Gly1175=) c.3519G>C (p.Gly1173=) c.3492G>C (p.Gly1164=) c.3486G>C (p.Gly1162=) c.3480G>C (p.Gly1160=) c.3441G>C (p.Gly1147=) c.3429G>C (p.Gly1143=) c.3372G>C (p.Gly1124=) c.3348G>C (p.Gly1116=) c.3342G>C (p.Gly1114=) c.3324G>C (p.Gly1108=) c.3270G>C (p.Gly1090=) c.2577G>C (p.Gly859=) c.2490G>C (p.Gly830=) n.3766G>C | |
17 | g.39727804G>T | CA499890707 | ERBB2 | c.3528G>T (p.Gly1176=) c.3438G>T (p.Gly1146=) c.2700G>T (p.Gly900=) c.3483G>T (p.Gly1161=) c.*3318G>T (n.*3318G>T) c.*107G>T (n.*107G>T) n.3852G>T c.3666G>T (p.Gly1222=) c.3621G>T (p.Gly1207=) c.3576G>T (p.Gly1192=) c.3645G>T (p.Gly1215=) c.3630G>T (p.Gly1210=) c.3609G>T (p.Gly1203=) c.3603G>T (p.Gly1201=) c.3558G>T (p.Gly1186=) c.3549G>T (p.Gly1183=) c.3525G>T (p.Gly1175=) c.3519G>T (p.Gly1173=) c.3492G>T (p.Gly1164=) c.3486G>T (p.Gly1162=) c.3480G>T (p.Gly1160=) c.3441G>T (p.Gly1147=) c.3429G>T (p.Gly1143=) c.3372G>T (p.Gly1124=) c.3348G>T (p.Gly1116=) c.3342G>T (p.Gly1114=) c.3324G>T (p.Gly1108=) c.3270G>T (p.Gly1090=) c.2577G>T (p.Gly859=) c.2490G>T (p.Gly830=) n.3766G>T | dbSNP |
17 | g.39727807_39727809del | CA2637630317 | ERBB2 | c.3531_3533del (p.Lys1177del) c.3441_3443del (p.Lys1147del) c.2703_2705del (p.Lys901del) c.3486_3488del (p.Lys1162del) c.*3321_*3323del (n.*3321_*3323del) c.*110_*112del (n.*110_*112del) n.3855_3857del c.3669_3671del (p.Lys1223del) c.3624_3626del (p.Lys1208del) c.3579_3581del (p.Lys1193del) c.3648_3650del (p.Lys1216del) c.3633_3635del (p.Lys1211del) c.3612_3614del (p.Lys1204del) c.3606_3608del (p.Lys1202del) c.3561_3563del (p.Lys1187del) c.3552_3554del (p.Lys1184del) c.3528_3530del (p.Lys1176del) c.3522_3524del (p.Lys1174del) c.3495_3497del (p.Lys1165del) c.3489_3491del (p.Lys1163del) c.3483_3485del (p.Lys1161del) c.3444_3446del (p.Lys1148del) c.3432_3434del (p.Lys1144del) c.3375_3377del (p.Lys1125del) c.3351_3353del (p.Lys1117del) c.3345_3347del (p.Lys1115del) c.3327_3329del (p.Lys1109del) c.3273_3275del (p.Lys1091del) c.2580_2582del (p.Lys860del) c.2493_2495del (p.Lys831del) n.3769_3771del | gnomAD v4 |
17 | g.39727805A= | CA2259229270 | ERBB2 | c.3529A= (p.Lys1177=) c.3439A= (p.Lys1147=) c.2701A= (p.Lys901=) c.3484A= (p.Lys1162=) c.*3319A= (n.*3319A=) c.*108A= (n.*108A=) n.3853A= c.3667A= (p.Lys1223=) c.3622A= (p.Lys1208=) c.3577A= (p.Lys1193=) c.3646A= (p.Lys1216=) c.3631A= (p.Lys1211=) c.3610A= (p.Lys1204=) c.3604A= (p.Lys1202=) c.3559A= (p.Lys1187=) c.3550A= (p.Lys1184=) c.3526A= (p.Lys1176=) c.3520A= (p.Lys1174=) c.3493A= (p.Lys1165=) c.3487A= (p.Lys1163=) c.3481A= (p.Lys1161=) c.3442A= (p.Lys1148=) c.3430A= (p.Lys1144=) c.3373A= (p.Lys1125=) c.3349A= (p.Lys1117=) c.3343A= (p.Lys1115=) c.3325A= (p.Lys1109=) c.3271A= (p.Lys1091=) c.2578A= (p.Lys860=) c.2491A= (p.Lys831=) n.3767A= | |
17 | g.39727805A>C | CA399313349 | ERBB2 | c.3529A>C (p.Lys1177Gln) c.3439A>C (p.Lys1147Gln) c.2701A>C (p.Lys901Gln) c.3484A>C (p.Lys1162Gln) c.*3319A>C (n.*3319A>C) c.*108A>C (n.*108A>C) n.3853A>C c.3667A>C (p.Lys1223Gln) c.3622A>C (p.Lys1208Gln) c.3577A>C (p.Lys1193Gln) c.3646A>C (p.Lys1216Gln) c.3631A>C (p.Lys1211Gln) c.3610A>C (p.Lys1204Gln) c.3604A>C (p.Lys1202Gln) c.3559A>C (p.Lys1187Gln) c.3550A>C (p.Lys1184Gln) c.3526A>C (p.Lys1176Gln) c.3520A>C (p.Lys1174Gln) c.3493A>C (p.Lys1165Gln) c.3487A>C (p.Lys1163Gln) c.3481A>C (p.Lys1161Gln) c.3442A>C (p.Lys1148Gln) c.3430A>C (p.Lys1144Gln) c.3373A>C (p.Lys1125Gln) c.3349A>C (p.Lys1117Gln) c.3343A>C (p.Lys1115Gln) c.3325A>C (p.Lys1109Gln) c.3271A>C (p.Lys1091Gln) c.2578A>C (p.Lys860Gln) c.2491A>C (p.Lys831Gln) n.3767A>C | |
17 | g.39727805A>G | CA399313345 | ERBB2 | c.3529A>G (p.Lys1177Glu) c.3439A>G (p.Lys1147Glu) c.2701A>G (p.Lys901Glu) c.3484A>G (p.Lys1162Glu) c.*3319A>G (n.*3319A>G) c.*108A>G (n.*108A>G) n.3853A>G c.3667A>G (p.Lys1223Glu) c.3622A>G (p.Lys1208Glu) c.3577A>G (p.Lys1193Glu) c.3646A>G (p.Lys1216Glu) c.3631A>G (p.Lys1211Glu) c.3610A>G (p.Lys1204Glu) c.3604A>G (p.Lys1202Glu) c.3559A>G (p.Lys1187Glu) c.3550A>G (p.Lys1184Glu) c.3526A>G (p.Lys1176Glu) c.3520A>G (p.Lys1174Glu) c.3493A>G (p.Lys1165Glu) c.3487A>G (p.Lys1163Glu) c.3481A>G (p.Lys1161Glu) c.3442A>G (p.Lys1148Glu) c.3430A>G (p.Lys1144Glu) c.3373A>G (p.Lys1125Glu) c.3349A>G (p.Lys1117Glu) c.3343A>G (p.Lys1115Glu) c.3325A>G (p.Lys1109Glu) c.3271A>G (p.Lys1091Glu) c.2578A>G (p.Lys860Glu) c.2491A>G (p.Lys831Glu) n.3767A>G | dbSNP |
17 | g.39727805A>T | CA8534576 | ERBB2 | c.3529A>T (p.Lys1177Ter) c.3439A>T (p.Lys1147Ter) c.2701A>T (p.Lys901Ter) c.3484A>T (p.Lys1162Ter) c.*3319A>T (n.*3319A>T) c.*108A>T (n.*108A>T) n.3853A>T c.3667A>T (p.Lys1223Ter) c.3622A>T (p.Lys1208Ter) c.3577A>T (p.Lys1193Ter) c.3646A>T (p.Lys1216Ter) c.3631A>T (p.Lys1211Ter) c.3610A>T (p.Lys1204Ter) c.3604A>T (p.Lys1202Ter) c.3559A>T (p.Lys1187Ter) c.3550A>T (p.Lys1184Ter) c.3526A>T (p.Lys1176Ter) c.3520A>T (p.Lys1174Ter) c.3493A>T (p.Lys1165Ter) c.3487A>T (p.Lys1163Ter) c.3481A>T (p.Lys1161Ter) c.3442A>T (p.Lys1148Ter) c.3430A>T (p.Lys1144Ter) c.3373A>T (p.Lys1125Ter) c.3349A>T (p.Lys1117Ter) c.3343A>T (p.Lys1115Ter) c.3325A>T (p.Lys1109Ter) c.3271A>T (p.Lys1091Ter) c.2578A>T (p.Lys860Ter) c.2491A>T (p.Lys831Ter) n.3767A>T | dbSNP ExAC |
17 | g.39727806A>C | CA399313355 | ERBB2 | c.3530A>C (p.Lys1177Thr) c.3440A>C (p.Lys1147Thr) c.2702A>C (p.Lys901Thr) c.3485A>C (p.Lys1162Thr) c.*3320A>C (n.*3320A>C) c.*109A>C (n.*109A>C) n.3854A>C c.3668A>C (p.Lys1223Thr) c.3623A>C (p.Lys1208Thr) c.3578A>C (p.Lys1193Thr) c.3647A>C (p.Lys1216Thr) c.3632A>C (p.Lys1211Thr) c.3611A>C (p.Lys1204Thr) c.3605A>C (p.Lys1202Thr) c.3560A>C (p.Lys1187Thr) c.3551A>C (p.Lys1184Thr) c.3527A>C (p.Lys1176Thr) c.3521A>C (p.Lys1174Thr) c.3494A>C (p.Lys1165Thr) c.3488A>C (p.Lys1163Thr) c.3482A>C (p.Lys1161Thr) c.3443A>C (p.Lys1148Thr) c.3431A>C (p.Lys1144Thr) c.3374A>C (p.Lys1125Thr) c.3350A>C (p.Lys1117Thr) c.3344A>C (p.Lys1115Thr) c.3326A>C (p.Lys1109Thr) c.3272A>C (p.Lys1091Thr) c.2579A>C (p.Lys860Thr) c.2492A>C (p.Lys831Thr) n.3768A>C | |
17 | g.39727806A>G | CA399313357 | ERBB2 | c.3530A>G (p.Lys1177Arg) c.3440A>G (p.Lys1147Arg) c.2702A>G (p.Lys901Arg) c.3485A>G (p.Lys1162Arg) c.*3320A>G (n.*3320A>G) c.*109A>G (n.*109A>G) n.3854A>G c.3668A>G (p.Lys1223Arg) c.3623A>G (p.Lys1208Arg) c.3578A>G (p.Lys1193Arg) c.3647A>G (p.Lys1216Arg) c.3632A>G (p.Lys1211Arg) c.3611A>G (p.Lys1204Arg) c.3605A>G (p.Lys1202Arg) c.3560A>G (p.Lys1187Arg) c.3551A>G (p.Lys1184Arg) c.3527A>G (p.Lys1176Arg) c.3521A>G (p.Lys1174Arg) c.3494A>G (p.Lys1165Arg) c.3488A>G (p.Lys1163Arg) c.3482A>G (p.Lys1161Arg) c.3443A>G (p.Lys1148Arg) c.3431A>G (p.Lys1144Arg) c.3374A>G (p.Lys1125Arg) c.3350A>G (p.Lys1117Arg) c.3344A>G (p.Lys1115Arg) c.3326A>G (p.Lys1109Arg) c.3272A>G (p.Lys1091Arg) c.2579A>G (p.Lys860Arg) c.2492A>G (p.Lys831Arg) n.3768A>G | dbSNP |
17 | g.39727806A>T | CA399313361 | ERBB2 | c.3530A>T (p.Lys1177Met) c.3440A>T (p.Lys1147Met) c.2702A>T (p.Lys901Met) c.3485A>T (p.Lys1162Met) c.*3320A>T (n.*3320A>T) c.*109A>T (n.*109A>T) n.3854A>T c.3668A>T (p.Lys1223Met) c.3623A>T (p.Lys1208Met) c.3578A>T (p.Lys1193Met) c.3647A>T (p.Lys1216Met) c.3632A>T (p.Lys1211Met) c.3611A>T (p.Lys1204Met) c.3605A>T (p.Lys1202Met) c.3560A>T (p.Lys1187Met) c.3551A>T (p.Lys1184Met) c.3527A>T (p.Lys1176Met) c.3521A>T (p.Lys1174Met) c.3494A>T (p.Lys1165Met) c.3488A>T (p.Lys1163Met) c.3482A>T (p.Lys1161Met) c.3443A>T (p.Lys1148Met) c.3431A>T (p.Lys1144Met) c.3374A>T (p.Lys1125Met) c.3350A>T (p.Lys1117Met) c.3344A>T (p.Lys1115Met) c.3326A>T (p.Lys1109Met) c.3272A>T (p.Lys1091Met) c.2579A>T (p.Lys860Met) c.2492A>T (p.Lys831Met) n.3768A>T | dbSNP |
17 | g.39727807G>A | CA8534578 | ERBB2 | c.3531G>A (p.Lys1177=) c.3441G>A (p.Lys1147=) c.2703G>A (p.Lys901=) c.3486G>A (p.Lys1162=) c.*3321G>A (n.*3321G>A) c.*110G>A (n.*110G>A) n.3855G>A c.3669G>A (p.Lys1223=) c.3624G>A (p.Lys1208=) c.3579G>A (p.Lys1193=) c.3648G>A (p.Lys1216=) c.3633G>A (p.Lys1211=) c.3612G>A (p.Lys1204=) c.3606G>A (p.Lys1202=) c.3561G>A (p.Lys1187=) c.3552G>A (p.Lys1184=) c.3528G>A (p.Lys1176=) c.3522G>A (p.Lys1174=) c.3495G>A (p.Lys1165=) c.3489G>A (p.Lys1163=) c.3483G>A (p.Lys1161=) c.3444G>A (p.Lys1148=) c.3432G>A (p.Lys1144=) c.3375G>A (p.Lys1125=) c.3351G>A (p.Lys1117=) c.3345G>A (p.Lys1115=) c.3327G>A (p.Lys1109=) c.3273G>A (p.Lys1091=) c.2580G>A (p.Lys860=) c.2493G>A (p.Lys831=) n.3769G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727807G>C | CA399313367 | ERBB2 | c.3531G>C (p.Lys1177Asn) c.3441G>C (p.Lys1147Asn) c.2703G>C (p.Lys901Asn) c.3486G>C (p.Lys1162Asn) c.*3321G>C (n.*3321G>C) c.*110G>C (n.*110G>C) n.3855G>C c.3669G>C (p.Lys1223Asn) c.3624G>C (p.Lys1208Asn) c.3579G>C (p.Lys1193Asn) c.3648G>C (p.Lys1216Asn) c.3633G>C (p.Lys1211Asn) c.3612G>C (p.Lys1204Asn) c.3606G>C (p.Lys1202Asn) c.3561G>C (p.Lys1187Asn) c.3552G>C (p.Lys1184Asn) c.3528G>C (p.Lys1176Asn) c.3522G>C (p.Lys1174Asn) c.3495G>C (p.Lys1165Asn) c.3489G>C (p.Lys1163Asn) c.3483G>C (p.Lys1161Asn) c.3444G>C (p.Lys1148Asn) c.3432G>C (p.Lys1144Asn) c.3375G>C (p.Lys1125Asn) c.3351G>C (p.Lys1117Asn) c.3345G>C (p.Lys1115Asn) c.3327G>C (p.Lys1109Asn) c.3273G>C (p.Lys1091Asn) c.2580G>C (p.Lys860Asn) c.2493G>C (p.Lys831Asn) n.3769G>C | dbSNP |
17 | g.39727807G= | CA2259229271 | ERBB2 | c.3531G= (p.Lys1177=) c.3441G= (p.Lys1147=) c.2703G= (p.Lys901=) c.3486G= (p.Lys1162=) c.*3321G= (n.*3321G=) c.*110G= (n.*110G=) n.3855G= c.3669G= (p.Lys1223=) c.3624G= (p.Lys1208=) c.3579G= (p.Lys1193=) c.3648G= (p.Lys1216=) c.3633G= (p.Lys1211=) c.3612G= (p.Lys1204=) c.3606G= (p.Lys1202=) c.3561G= (p.Lys1187=) c.3552G= (p.Lys1184=) c.3528G= (p.Lys1176=) c.3522G= (p.Lys1174=) c.3495G= (p.Lys1165=) c.3489G= (p.Lys1163=) c.3483G= (p.Lys1161=) c.3444G= (p.Lys1148=) c.3432G= (p.Lys1144=) c.3375G= (p.Lys1125=) c.3351G= (p.Lys1117=) c.3345G= (p.Lys1115=) c.3327G= (p.Lys1109=) c.3273G= (p.Lys1091=) c.2580G= (p.Lys860=) c.2493G= (p.Lys831=) n.3769G= | |
17 | g.39727807G>T | CA8534577 | ERBB2 | c.3531G>T (p.Lys1177Asn) c.3441G>T (p.Lys1147Asn) c.2703G>T (p.Lys901Asn) c.3486G>T (p.Lys1162Asn) c.*3321G>T (n.*3321G>T) c.*110G>T (n.*110G>T) n.3855G>T c.3669G>T (p.Lys1223Asn) c.3624G>T (p.Lys1208Asn) c.3579G>T (p.Lys1193Asn) c.3648G>T (p.Lys1216Asn) c.3633G>T (p.Lys1211Asn) c.3612G>T (p.Lys1204Asn) c.3606G>T (p.Lys1202Asn) c.3561G>T (p.Lys1187Asn) c.3552G>T (p.Lys1184Asn) c.3528G>T (p.Lys1176Asn) c.3522G>T (p.Lys1174Asn) c.3495G>T (p.Lys1165Asn) c.3489G>T (p.Lys1163Asn) c.3483G>T (p.Lys1161Asn) c.3444G>T (p.Lys1148Asn) c.3432G>T (p.Lys1144Asn) c.3375G>T (p.Lys1125Asn) c.3351G>T (p.Lys1117Asn) c.3345G>T (p.Lys1115Asn) c.3327G>T (p.Lys1109Asn) c.3273G>T (p.Lys1091Asn) c.2580G>T (p.Lys860Asn) c.2493G>T (p.Lys831Asn) n.3769G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727808A>C | CA399313373 | ERBB2 | c.3532A>C (p.Asn1178His) c.3442A>C (p.Asn1148His) c.2704A>C (p.Asn902His) c.3487A>C (p.Asn1163His) c.*3322A>C (n.*3322A>C) c.*111A>C (n.*111A>C) n.3856A>C c.3670A>C (p.Asn1224His) c.3625A>C (p.Asn1209His) c.3580A>C (p.Asn1194His) c.3649A>C (p.Asn1217His) c.3634A>C (p.Asn1212His) c.3613A>C (p.Asn1205His) c.3607A>C (p.Asn1203His) c.3562A>C (p.Asn1188His) c.3553A>C (p.Asn1185His) c.3529A>C (p.Asn1177His) c.3523A>C (p.Asn1175His) c.3496A>C (p.Asn1166His) c.3490A>C (p.Asn1164His) c.3484A>C (p.Asn1162His) c.3445A>C (p.Asn1149His) c.3433A>C (p.Asn1145His) c.3376A>C (p.Asn1126His) c.3352A>C (p.Asn1118His) c.3346A>C (p.Asn1116His) c.3328A>C (p.Asn1110His) c.3274A>C (p.Asn1092His) c.2581A>C (p.Asn861His) c.2494A>C (p.Asn832His) n.3770A>C | |
17 | g.39727808A>G | CA399313376 | ERBB2 | c.3532A>G (p.Asn1178Asp) c.3442A>G (p.Asn1148Asp) c.2704A>G (p.Asn902Asp) c.3487A>G (p.Asn1163Asp) c.*3322A>G (n.*3322A>G) c.*111A>G (n.*111A>G) n.3856A>G c.3670A>G (p.Asn1224Asp) c.3625A>G (p.Asn1209Asp) c.3580A>G (p.Asn1194Asp) c.3649A>G (p.Asn1217Asp) c.3634A>G (p.Asn1212Asp) c.3613A>G (p.Asn1205Asp) c.3607A>G (p.Asn1203Asp) c.3562A>G (p.Asn1188Asp) c.3553A>G (p.Asn1185Asp) c.3529A>G (p.Asn1177Asp) c.3523A>G (p.Asn1175Asp) c.3496A>G (p.Asn1166Asp) c.3490A>G (p.Asn1164Asp) c.3484A>G (p.Asn1162Asp) c.3445A>G (p.Asn1149Asp) c.3433A>G (p.Asn1145Asp) c.3376A>G (p.Asn1126Asp) c.3352A>G (p.Asn1118Asp) c.3346A>G (p.Asn1116Asp) c.3328A>G (p.Asn1110Asp) c.3274A>G (p.Asn1092Asp) c.2581A>G (p.Asn861Asp) c.2494A>G (p.Asn832Asp) n.3770A>G | dbSNP |
17 | g.39727808A>T | CA399313379 | ERBB2 | c.3532A>T (p.Asn1178Tyr) c.3442A>T (p.Asn1148Tyr) c.2704A>T (p.Asn902Tyr) c.3487A>T (p.Asn1163Tyr) c.*3322A>T (n.*3322A>T) c.*111A>T (n.*111A>T) n.3856A>T c.3670A>T (p.Asn1224Tyr) c.3625A>T (p.Asn1209Tyr) c.3580A>T (p.Asn1194Tyr) c.3649A>T (p.Asn1217Tyr) c.3634A>T (p.Asn1212Tyr) c.3613A>T (p.Asn1205Tyr) c.3607A>T (p.Asn1203Tyr) c.3562A>T (p.Asn1188Tyr) c.3553A>T (p.Asn1185Tyr) c.3529A>T (p.Asn1177Tyr) c.3523A>T (p.Asn1175Tyr) c.3496A>T (p.Asn1166Tyr) c.3490A>T (p.Asn1164Tyr) c.3484A>T (p.Asn1162Tyr) c.3445A>T (p.Asn1149Tyr) c.3433A>T (p.Asn1145Tyr) c.3376A>T (p.Asn1126Tyr) c.3352A>T (p.Asn1118Tyr) c.3346A>T (p.Asn1116Tyr) c.3328A>T (p.Asn1110Tyr) c.3274A>T (p.Asn1092Tyr) c.2581A>T (p.Asn861Tyr) c.2494A>T (p.Asn832Tyr) n.3770A>T | dbSNP |
17 | g.39727809A= | CA2259229272 | ERBB2 | c.3533A= (p.Asn1178=) c.3443A= (p.Asn1148=) c.2705A= (p.Asn902=) c.3488A= (p.Asn1163=) c.*3323A= (n.*3323A=) c.*112A= (n.*112A=) n.3857A= c.3671A= (p.Asn1224=) c.3626A= (p.Asn1209=) c.3581A= (p.Asn1194=) c.3650A= (p.Asn1217=) c.3635A= (p.Asn1212=) c.3614A= (p.Asn1205=) c.3608A= (p.Asn1203=) c.3563A= (p.Asn1188=) c.3554A= (p.Asn1185=) c.3530A= (p.Asn1177=) c.3524A= (p.Asn1175=) c.3497A= (p.Asn1166=) c.3491A= (p.Asn1164=) c.3485A= (p.Asn1162=) c.3446A= (p.Asn1149=) c.3434A= (p.Asn1145=) c.3377A= (p.Asn1126=) c.3353A= (p.Asn1118=) c.3347A= (p.Asn1116=) c.3329A= (p.Asn1110=) c.3275A= (p.Asn1092=) c.2582A= (p.Asn861=) c.2495A= (p.Asn832=) n.3771A= | |
17 | g.39727809A>C | CA399313382 | ERBB2 | c.3533A>C (p.Asn1178Thr) c.3443A>C (p.Asn1148Thr) c.2705A>C (p.Asn902Thr) c.3488A>C (p.Asn1163Thr) c.*3323A>C (n.*3323A>C) c.*112A>C (n.*112A>C) n.3857A>C c.3671A>C (p.Asn1224Thr) c.3626A>C (p.Asn1209Thr) c.3581A>C (p.Asn1194Thr) c.3650A>C (p.Asn1217Thr) c.3635A>C (p.Asn1212Thr) c.3614A>C (p.Asn1205Thr) c.3608A>C (p.Asn1203Thr) c.3563A>C (p.Asn1188Thr) c.3554A>C (p.Asn1185Thr) c.3530A>C (p.Asn1177Thr) c.3524A>C (p.Asn1175Thr) c.3497A>C (p.Asn1166Thr) c.3491A>C (p.Asn1164Thr) c.3485A>C (p.Asn1162Thr) c.3446A>C (p.Asn1149Thr) c.3434A>C (p.Asn1145Thr) c.3377A>C (p.Asn1126Thr) c.3353A>C (p.Asn1118Thr) c.3347A>C (p.Asn1116Thr) c.3329A>C (p.Asn1110Thr) c.3275A>C (p.Asn1092Thr) c.2582A>C (p.Asn861Thr) c.2495A>C (p.Asn832Thr) n.3771A>C | |
17 | g.39727809A>G | CA399313383 | ERBB2 | c.3533A>G (p.Asn1178Ser) c.3443A>G (p.Asn1148Ser) c.2705A>G (p.Asn902Ser) c.3488A>G (p.Asn1163Ser) c.*3323A>G (n.*3323A>G) c.*112A>G (n.*112A>G) n.3857A>G c.3671A>G (p.Asn1224Ser) c.3626A>G (p.Asn1209Ser) c.3581A>G (p.Asn1194Ser) c.3650A>G (p.Asn1217Ser) c.3635A>G (p.Asn1212Ser) c.3614A>G (p.Asn1205Ser) c.3608A>G (p.Asn1203Ser) c.3563A>G (p.Asn1188Ser) c.3554A>G (p.Asn1185Ser) c.3530A>G (p.Asn1177Ser) c.3524A>G (p.Asn1175Ser) c.3497A>G (p.Asn1166Ser) c.3491A>G (p.Asn1164Ser) c.3485A>G (p.Asn1162Ser) c.3446A>G (p.Asn1149Ser) c.3434A>G (p.Asn1145Ser) c.3377A>G (p.Asn1126Ser) c.3353A>G (p.Asn1118Ser) c.3347A>G (p.Asn1116Ser) c.3329A>G (p.Asn1110Ser) c.3275A>G (p.Asn1092Ser) c.2582A>G (p.Asn861Ser) c.2495A>G (p.Asn832Ser) n.3771A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727809A>T | CA399313386 | ERBB2 | c.3533A>T (p.Asn1178Ile) c.3443A>T (p.Asn1148Ile) c.2705A>T (p.Asn902Ile) c.3488A>T (p.Asn1163Ile) c.*3323A>T (n.*3323A>T) c.*112A>T (n.*112A>T) n.3857A>T c.3671A>T (p.Asn1224Ile) c.3626A>T (p.Asn1209Ile) c.3581A>T (p.Asn1194Ile) c.3650A>T (p.Asn1217Ile) c.3635A>T (p.Asn1212Ile) c.3614A>T (p.Asn1205Ile) c.3608A>T (p.Asn1203Ile) c.3563A>T (p.Asn1188Ile) c.3554A>T (p.Asn1185Ile) c.3530A>T (p.Asn1177Ile) c.3524A>T (p.Asn1175Ile) c.3497A>T (p.Asn1166Ile) c.3491A>T (p.Asn1164Ile) c.3485A>T (p.Asn1162Ile) c.3446A>T (p.Asn1149Ile) c.3434A>T (p.Asn1145Ile) c.3377A>T (p.Asn1126Ile) c.3353A>T (p.Asn1118Ile) c.3347A>T (p.Asn1116Ile) c.3329A>T (p.Asn1110Ile) c.3275A>T (p.Asn1092Ile) c.2582A>T (p.Asn861Ile) c.2495A>T (p.Asn832Ile) n.3771A>T | dbSNP |
17 | g.39727810T>A | CA399313389 | ERBB2 | c.3534T>A (p.Asn1178Lys) c.3444T>A (p.Asn1148Lys) c.2706T>A (p.Asn902Lys) c.3489T>A (p.Asn1163Lys) c.*3324T>A (n.*3324T>A) c.*113T>A (n.*113T>A) n.3858T>A c.3672T>A (p.Asn1224Lys) c.3627T>A (p.Asn1209Lys) c.3582T>A (p.Asn1194Lys) c.3651T>A (p.Asn1217Lys) c.3636T>A (p.Asn1212Lys) c.3615T>A (p.Asn1205Lys) c.3609T>A (p.Asn1203Lys) c.3564T>A (p.Asn1188Lys) c.3555T>A (p.Asn1185Lys) c.3531T>A (p.Asn1177Lys) c.3525T>A (p.Asn1175Lys) c.3498T>A (p.Asn1166Lys) c.3492T>A (p.Asn1164Lys) c.3486T>A (p.Asn1162Lys) c.3447T>A (p.Asn1149Lys) c.3435T>A (p.Asn1145Lys) c.3378T>A (p.Asn1126Lys) c.3354T>A (p.Asn1118Lys) c.3348T>A (p.Asn1116Lys) c.3330T>A (p.Asn1110Lys) c.3276T>A (p.Asn1092Lys) c.2583T>A (p.Asn861Lys) c.2496T>A (p.Asn832Lys) n.3772T>A | |
17 | g.39727810T>C | CA499890715 | ERBB2 | c.3534T>C (p.Asn1178=) c.3444T>C (p.Asn1148=) c.2706T>C (p.Asn902=) c.3489T>C (p.Asn1163=) c.*3324T>C (n.*3324T>C) c.*113T>C (n.*113T>C) n.3858T>C c.3672T>C (p.Asn1224=) c.3627T>C (p.Asn1209=) c.3582T>C (p.Asn1194=) c.3651T>C (p.Asn1217=) c.3636T>C (p.Asn1212=) c.3615T>C (p.Asn1205=) c.3609T>C (p.Asn1203=) c.3564T>C (p.Asn1188=) c.3555T>C (p.Asn1185=) c.3531T>C (p.Asn1177=) c.3525T>C (p.Asn1175=) c.3498T>C (p.Asn1166=) c.3492T>C (p.Asn1164=) c.3486T>C (p.Asn1162=) c.3447T>C (p.Asn1149=) c.3435T>C (p.Asn1145=) c.3378T>C (p.Asn1126=) c.3354T>C (p.Asn1118=) c.3348T>C (p.Asn1116=) c.3330T>C (p.Asn1110=) c.3276T>C (p.Asn1092=) c.2583T>C (p.Asn861=) c.2496T>C (p.Asn832=) n.3772T>C | ClinVar dbSNP gnomAD v4 |
17 | g.39727810T>G | CA399313390 | ERBB2 | c.3534T>G (p.Asn1178Lys) c.3444T>G (p.Asn1148Lys) c.2706T>G (p.Asn902Lys) c.3489T>G (p.Asn1163Lys) c.*3324T>G (n.*3324T>G) c.*113T>G (n.*113T>G) n.3858T>G c.3672T>G (p.Asn1224Lys) c.3627T>G (p.Asn1209Lys) c.3582T>G (p.Asn1194Lys) c.3651T>G (p.Asn1217Lys) c.3636T>G (p.Asn1212Lys) c.3615T>G (p.Asn1205Lys) c.3609T>G (p.Asn1203Lys) c.3564T>G (p.Asn1188Lys) c.3555T>G (p.Asn1185Lys) c.3531T>G (p.Asn1177Lys) c.3525T>G (p.Asn1175Lys) c.3498T>G (p.Asn1166Lys) c.3492T>G (p.Asn1164Lys) c.3486T>G (p.Asn1162Lys) c.3447T>G (p.Asn1149Lys) c.3435T>G (p.Asn1145Lys) c.3378T>G (p.Asn1126Lys) c.3354T>G (p.Asn1118Lys) c.3348T>G (p.Asn1116Lys) c.3330T>G (p.Asn1110Lys) c.3276T>G (p.Asn1092Lys) c.2583T>G (p.Asn861Lys) c.2496T>G (p.Asn832Lys) n.3772T>G | |
17 | g.39727810T= | CA2259229273 | ERBB2 | c.3534T= (p.Asn1178=) c.3444T= (p.Asn1148=) c.2706T= (p.Asn902=) c.3489T= (p.Asn1163=) c.*3324T= (n.*3324T=) c.*113T= (n.*113T=) n.3858T= c.3672T= (p.Asn1224=) c.3627T= (p.Asn1209=) c.3582T= (p.Asn1194=) c.3651T= (p.Asn1217=) c.3636T= (p.Asn1212=) c.3615T= (p.Asn1205=) c.3609T= (p.Asn1203=) c.3564T= (p.Asn1188=) c.3555T= (p.Asn1185=) c.3531T= (p.Asn1177=) c.3525T= (p.Asn1175=) c.3498T= (p.Asn1166=) c.3492T= (p.Asn1164=) c.3486T= (p.Asn1162=) c.3447T= (p.Asn1149=) c.3435T= (p.Asn1145=) c.3378T= (p.Asn1126=) c.3354T= (p.Asn1118=) c.3348T= (p.Asn1116=) c.3330T= (p.Asn1110=) c.3276T= (p.Asn1092=) c.2583T= (p.Asn861=) c.2496T= (p.Asn832=) n.3772T= | |
17 | g.39727811G>A | CA399313392 | ERBB2 | c.3535G>A (p.Gly1179Arg) c.3445G>A (p.Gly1149Arg) c.2707G>A (p.Gly903Arg) c.3490G>A (p.Gly1164Arg) c.*3325G>A (n.*3325G>A) c.*114G>A (n.*114G>A) n.3859G>A c.3673G>A (p.Gly1225Arg) c.3628G>A (p.Gly1210Arg) c.3583G>A (p.Gly1195Arg) c.3652G>A (p.Gly1218Arg) c.3637G>A (p.Gly1213Arg) c.3616G>A (p.Gly1206Arg) c.3610G>A (p.Gly1204Arg) c.3565G>A (p.Gly1189Arg) c.3556G>A (p.Gly1186Arg) c.3532G>A (p.Gly1178Arg) c.3526G>A (p.Gly1176Arg) c.3499G>A (p.Gly1167Arg) c.3493G>A (p.Gly1165Arg) c.3487G>A (p.Gly1163Arg) c.3448G>A (p.Gly1150Arg) c.3436G>A (p.Gly1146Arg) c.3379G>A (p.Gly1127Arg) c.3355G>A (p.Gly1119Arg) c.3349G>A (p.Gly1117Arg) c.3331G>A (p.Gly1111Arg) c.3277G>A (p.Gly1093Arg) c.2584G>A (p.Gly862Arg) c.2497G>A (p.Gly833Arg) n.3773G>A | dbSNP |
17 | g.39727811G>C | CA399313394 | ERBB2 | c.3535G>C (p.Gly1179Arg) c.3445G>C (p.Gly1149Arg) c.2707G>C (p.Gly903Arg) c.3490G>C (p.Gly1164Arg) c.*3325G>C (n.*3325G>C) c.*114G>C (n.*114G>C) n.3859G>C c.3673G>C (p.Gly1225Arg) c.3628G>C (p.Gly1210Arg) c.3583G>C (p.Gly1195Arg) c.3652G>C (p.Gly1218Arg) c.3637G>C (p.Gly1213Arg) c.3616G>C (p.Gly1206Arg) c.3610G>C (p.Gly1204Arg) c.3565G>C (p.Gly1189Arg) c.3556G>C (p.Gly1186Arg) c.3532G>C (p.Gly1178Arg) c.3526G>C (p.Gly1176Arg) c.3499G>C (p.Gly1167Arg) c.3493G>C (p.Gly1165Arg) c.3487G>C (p.Gly1163Arg) c.3448G>C (p.Gly1150Arg) c.3436G>C (p.Gly1146Arg) c.3379G>C (p.Gly1127Arg) c.3355G>C (p.Gly1119Arg) c.3349G>C (p.Gly1117Arg) c.3331G>C (p.Gly1111Arg) c.3277G>C (p.Gly1093Arg) c.2584G>C (p.Gly862Arg) c.2497G>C (p.Gly833Arg) n.3773G>C | dbSNP |
17 | g.39727811G>T | CA399313395 | ERBB2 | c.3535G>T (p.Gly1179Trp) c.3445G>T (p.Gly1149Trp) c.2707G>T (p.Gly903Trp) c.3490G>T (p.Gly1164Trp) c.*3325G>T (n.*3325G>T) c.*114G>T (n.*114G>T) n.3859G>T c.3673G>T (p.Gly1225Trp) c.3628G>T (p.Gly1210Trp) c.3583G>T (p.Gly1195Trp) c.3652G>T (p.Gly1218Trp) c.3637G>T (p.Gly1213Trp) c.3616G>T (p.Gly1206Trp) c.3610G>T (p.Gly1204Trp) c.3565G>T (p.Gly1189Trp) c.3556G>T (p.Gly1186Trp) c.3532G>T (p.Gly1178Trp) c.3526G>T (p.Gly1176Trp) c.3499G>T (p.Gly1167Trp) c.3493G>T (p.Gly1165Trp) c.3487G>T (p.Gly1163Trp) c.3448G>T (p.Gly1150Trp) c.3436G>T (p.Gly1146Trp) c.3379G>T (p.Gly1127Trp) c.3355G>T (p.Gly1119Trp) c.3349G>T (p.Gly1117Trp) c.3331G>T (p.Gly1111Trp) c.3277G>T (p.Gly1093Trp) c.2584G>T (p.Gly862Trp) c.2497G>T (p.Gly833Trp) n.3773G>T | dbSNP |
17 | g.39727812G>A | CA399313400 | ERBB2 | c.3536G>A (p.Gly1179Glu) c.3446G>A (p.Gly1149Glu) c.2708G>A (p.Gly903Glu) c.3491G>A (p.Gly1164Glu) c.*3326G>A (n.*3326G>A) c.*115G>A (n.*115G>A) n.3860G>A c.3674G>A (p.Gly1225Glu) c.3629G>A (p.Gly1210Glu) c.3584G>A (p.Gly1195Glu) c.3653G>A (p.Gly1218Glu) c.3638G>A (p.Gly1213Glu) c.3617G>A (p.Gly1206Glu) c.3611G>A (p.Gly1204Glu) c.3566G>A (p.Gly1189Glu) c.3557G>A (p.Gly1186Glu) c.3533G>A (p.Gly1178Glu) c.3527G>A (p.Gly1176Glu) c.3500G>A (p.Gly1167Glu) c.3494G>A (p.Gly1165Glu) c.3488G>A (p.Gly1163Glu) c.3449G>A (p.Gly1150Glu) c.3437G>A (p.Gly1146Glu) c.3380G>A (p.Gly1127Glu) c.3356G>A (p.Gly1119Glu) c.3350G>A (p.Gly1117Glu) c.3332G>A (p.Gly1111Glu) c.3278G>A (p.Gly1093Glu) c.2585G>A (p.Gly862Glu) c.2498G>A (p.Gly833Glu) n.3774G>A | dbSNP |
17 | g.39727812G>C | CA399313401 | ERBB2 | c.3536G>C (p.Gly1179Ala) c.3446G>C (p.Gly1149Ala) c.2708G>C (p.Gly903Ala) c.3491G>C (p.Gly1164Ala) c.*3326G>C (n.*3326G>C) c.*115G>C (n.*115G>C) n.3860G>C c.3674G>C (p.Gly1225Ala) c.3629G>C (p.Gly1210Ala) c.3584G>C (p.Gly1195Ala) c.3653G>C (p.Gly1218Ala) c.3638G>C (p.Gly1213Ala) c.3617G>C (p.Gly1206Ala) c.3611G>C (p.Gly1204Ala) c.3566G>C (p.Gly1189Ala) c.3557G>C (p.Gly1186Ala) c.3533G>C (p.Gly1178Ala) c.3527G>C (p.Gly1176Ala) c.3500G>C (p.Gly1167Ala) c.3494G>C (p.Gly1165Ala) c.3488G>C (p.Gly1163Ala) c.3449G>C (p.Gly1150Ala) c.3437G>C (p.Gly1146Ala) c.3380G>C (p.Gly1127Ala) c.3356G>C (p.Gly1119Ala) c.3350G>C (p.Gly1117Ala) c.3332G>C (p.Gly1111Ala) c.3278G>C (p.Gly1093Ala) c.2585G>C (p.Gly862Ala) c.2498G>C (p.Gly833Ala) n.3774G>C | dbSNP |
17 | g.39727812G>T | CA399313404 | ERBB2 | c.3536G>T (p.Gly1179Val) c.3446G>T (p.Gly1149Val) c.2708G>T (p.Gly903Val) c.3491G>T (p.Gly1164Val) c.*3326G>T (n.*3326G>T) c.*115G>T (n.*115G>T) n.3860G>T c.3674G>T (p.Gly1225Val) c.3629G>T (p.Gly1210Val) c.3584G>T (p.Gly1195Val) c.3653G>T (p.Gly1218Val) c.3638G>T (p.Gly1213Val) c.3617G>T (p.Gly1206Val) c.3611G>T (p.Gly1204Val) c.3566G>T (p.Gly1189Val) c.3557G>T (p.Gly1186Val) c.3533G>T (p.Gly1178Val) c.3527G>T (p.Gly1176Val) c.3500G>T (p.Gly1167Val) c.3494G>T (p.Gly1165Val) c.3488G>T (p.Gly1163Val) c.3449G>T (p.Gly1150Val) c.3437G>T (p.Gly1146Val) c.3380G>T (p.Gly1127Val) c.3356G>T (p.Gly1119Val) c.3350G>T (p.Gly1117Val) c.3332G>T (p.Gly1111Val) c.3278G>T (p.Gly1093Val) c.2585G>T (p.Gly862Val) c.2498G>T (p.Gly833Val) n.3774G>T | dbSNP |
17 | g.39727813G>A | CA499890720 | ERBB2 | c.3537G>A (p.Gly1179=) c.3447G>A (p.Gly1149=) c.2709G>A (p.Gly903=) c.3492G>A (p.Gly1164=) c.*3327G>A (n.*3327G>A) c.*116G>A (n.*116G>A) n.3861G>A c.3675G>A (p.Gly1225=) c.3630G>A (p.Gly1210=) c.3585G>A (p.Gly1195=) c.3654G>A (p.Gly1218=) c.3639G>A (p.Gly1213=) c.3618G>A (p.Gly1206=) c.3612G>A (p.Gly1204=) c.3567G>A (p.Gly1189=) c.3558G>A (p.Gly1186=) c.3534G>A (p.Gly1178=) c.3528G>A (p.Gly1176=) c.3501G>A (p.Gly1167=) c.3495G>A (p.Gly1165=) c.3489G>A (p.Gly1163=) c.3450G>A (p.Gly1150=) c.3438G>A (p.Gly1146=) c.3381G>A (p.Gly1127=) c.3357G>A (p.Gly1119=) c.3351G>A (p.Gly1117=) c.3333G>A (p.Gly1111=) c.3279G>A (p.Gly1093=) c.2586G>A (p.Gly862=) c.2499G>A (p.Gly833=) n.3775G>A | dbSNP |
17 | g.39727813G>C | CA499890722 | ERBB2 | c.3537G>C (p.Gly1179=) c.3447G>C (p.Gly1149=) c.2709G>C (p.Gly903=) c.3492G>C (p.Gly1164=) c.*3327G>C (n.*3327G>C) c.*116G>C (n.*116G>C) n.3861G>C c.3675G>C (p.Gly1225=) c.3630G>C (p.Gly1210=) c.3585G>C (p.Gly1195=) c.3654G>C (p.Gly1218=) c.3639G>C (p.Gly1213=) c.3618G>C (p.Gly1206=) c.3612G>C (p.Gly1204=) c.3567G>C (p.Gly1189=) c.3558G>C (p.Gly1186=) c.3534G>C (p.Gly1178=) c.3528G>C (p.Gly1176=) c.3501G>C (p.Gly1167=) c.3495G>C (p.Gly1165=) c.3489G>C (p.Gly1163=) c.3450G>C (p.Gly1150=) c.3438G>C (p.Gly1146=) c.3381G>C (p.Gly1127=) c.3357G>C (p.Gly1119=) c.3351G>C (p.Gly1117=) c.3333G>C (p.Gly1111=) c.3279G>C (p.Gly1093=) c.2586G>C (p.Gly862=) c.2499G>C (p.Gly833=) n.3775G>C | dbSNP |
17 | g.39727813G>T | CA499890721 | ERBB2 | c.3537G>T (p.Gly1179=) c.3447G>T (p.Gly1149=) c.2709G>T (p.Gly903=) c.3492G>T (p.Gly1164=) c.*3327G>T (n.*3327G>T) c.*116G>T (n.*116G>T) n.3861G>T c.3675G>T (p.Gly1225=) c.3630G>T (p.Gly1210=) c.3585G>T (p.Gly1195=) c.3654G>T (p.Gly1218=) c.3639G>T (p.Gly1213=) c.3618G>T (p.Gly1206=) c.3612G>T (p.Gly1204=) c.3567G>T (p.Gly1189=) c.3558G>T (p.Gly1186=) c.3534G>T (p.Gly1178=) c.3528G>T (p.Gly1176=) c.3501G>T (p.Gly1167=) c.3495G>T (p.Gly1165=) c.3489G>T (p.Gly1163=) c.3450G>T (p.Gly1150=) c.3438G>T (p.Gly1146=) c.3381G>T (p.Gly1127=) c.3357G>T (p.Gly1119=) c.3351G>T (p.Gly1117=) c.3333G>T (p.Gly1111=) c.3279G>T (p.Gly1093=) c.2586G>T (p.Gly862=) c.2499G>T (p.Gly833=) n.3775G>T | dbSNP |
17 | g.39727813_39727816delinsGGTC | CA2259229274 | ERBB2 | c.3537_3540delinsGGTC (p.Gly1179=) c.3447_3450delinsGGTC (p.Gly1149=) c.2709_2712delinsGGTC (p.Gly903=) c.3492_3495delinsGGTC (p.Gly1164=) c.*3327_*3330delinsGGTC (n.*3327_*3330delinsGGTC) c.*116_*119delinsGGTC (n.*116_*119delinsGGTC) n.3861_3864delinsGGTC c.3675_3678delinsGGTC (p.Gly1225=) c.3630_3633delinsGGTC (p.Gly1210=) c.3585_3588delinsGGTC (p.Gly1195=) c.3654_3657delinsGGTC (p.Gly1218=) c.3639_3642delinsGGTC (p.Gly1213=) c.3618_3621delinsGGTC (p.Gly1206=) c.3612_3615delinsGGTC (p.Gly1204=) c.3567_3570delinsGGTC (p.Gly1189=) c.3558_3561delinsGGTC (p.Gly1186=) c.3534_3537delinsGGTC (p.Gly1178=) c.3528_3531delinsGGTC (p.Gly1176=) c.3501_3504delinsGGTC (p.Gly1167=) c.3495_3498delinsGGTC (p.Gly1165=) c.3489_3492delinsGGTC (p.Gly1163=) c.3450_3453delinsGGTC (p.Gly1150=) c.3438_3441delinsGGTC (p.Gly1146=) c.3381_3384delinsGGTC (p.Gly1127=) c.3357_3360delinsGGTC (p.Gly1119=) c.3351_3354delinsGGTC (p.Gly1117=) c.3333_3336delinsGGTC (p.Gly1111=) c.3279_3282delinsGGTC (p.Gly1093=) c.2586_2589delinsGGTC (p.Gly862=) c.2499_2502delinsGGTC (p.Gly833=) n.3775_3778delinsGGTC | |
17 | g.39727814G>A | CA399313409 | ERBB2 | c.3538G>A (p.Val1180Ile) c.3448G>A (p.Val1150Ile) c.2710G>A (p.Val904Ile) c.3493G>A (p.Val1165Ile) c.*3328G>A (n.*3328G>A) c.*117G>A (n.*117G>A) n.3862G>A c.3676G>A (p.Val1226Ile) c.3631G>A (p.Val1211Ile) c.3586G>A (p.Val1196Ile) c.3655G>A (p.Val1219Ile) c.3640G>A (p.Val1214Ile) c.3619G>A (p.Val1207Ile) c.3613G>A (p.Val1205Ile) c.3568G>A (p.Val1190Ile) c.3559G>A (p.Val1187Ile) c.3535G>A (p.Val1179Ile) c.3529G>A (p.Val1177Ile) c.3502G>A (p.Val1168Ile) c.3496G>A (p.Val1166Ile) c.3490G>A (p.Val1164Ile) c.3451G>A (p.Val1151Ile) c.3439G>A (p.Val1147Ile) c.3382G>A (p.Val1128Ile) c.3358G>A (p.Val1120Ile) c.3352G>A (p.Val1118Ile) c.3334G>A (p.Val1112Ile) c.3280G>A (p.Val1094Ile) c.2587G>A (p.Val863Ile) c.2500G>A (p.Val834Ile) n.3776G>A | dbSNP |
17 | g.39727814G>C | CA399313411 | ERBB2 | c.3538G>C (p.Val1180Leu) c.3448G>C (p.Val1150Leu) c.2710G>C (p.Val904Leu) c.3493G>C (p.Val1165Leu) c.*3328G>C (n.*3328G>C) c.*117G>C (n.*117G>C) n.3862G>C c.3676G>C (p.Val1226Leu) c.3631G>C (p.Val1211Leu) c.3586G>C (p.Val1196Leu) c.3655G>C (p.Val1219Leu) c.3640G>C (p.Val1214Leu) c.3619G>C (p.Val1207Leu) c.3613G>C (p.Val1205Leu) c.3568G>C (p.Val1190Leu) c.3559G>C (p.Val1187Leu) c.3535G>C (p.Val1179Leu) c.3529G>C (p.Val1177Leu) c.3502G>C (p.Val1168Leu) c.3496G>C (p.Val1166Leu) c.3490G>C (p.Val1164Leu) c.3451G>C (p.Val1151Leu) c.3439G>C (p.Val1147Leu) c.3382G>C (p.Val1128Leu) c.3358G>C (p.Val1120Leu) c.3352G>C (p.Val1118Leu) c.3334G>C (p.Val1112Leu) c.3280G>C (p.Val1094Leu) c.2587G>C (p.Val863Leu) c.2500G>C (p.Val834Leu) n.3776G>C | dbSNP |
17 | g.39727814G>T | CA399313413 | ERBB2 | c.3538G>T (p.Val1180Phe) c.3448G>T (p.Val1150Phe) c.2710G>T (p.Val904Phe) c.3493G>T (p.Val1165Phe) c.*3328G>T (n.*3328G>T) c.*117G>T (n.*117G>T) n.3862G>T c.3676G>T (p.Val1226Phe) c.3631G>T (p.Val1211Phe) c.3586G>T (p.Val1196Phe) c.3655G>T (p.Val1219Phe) c.3640G>T (p.Val1214Phe) c.3619G>T (p.Val1207Phe) c.3613G>T (p.Val1205Phe) c.3568G>T (p.Val1190Phe) c.3559G>T (p.Val1187Phe) c.3535G>T (p.Val1179Phe) c.3529G>T (p.Val1177Phe) c.3502G>T (p.Val1168Phe) c.3496G>T (p.Val1166Phe) c.3490G>T (p.Val1164Phe) c.3451G>T (p.Val1151Phe) c.3439G>T (p.Val1147Phe) c.3382G>T (p.Val1128Phe) c.3358G>T (p.Val1120Phe) c.3352G>T (p.Val1118Phe) c.3334G>T (p.Val1112Phe) c.3280G>T (p.Val1094Phe) c.2587G>T (p.Val863Phe) c.2500G>T (p.Val834Phe) n.3776G>T | |
17 | g.39727817_39727819del | CA8534579 | ERBB2 | c.3541_3543del (p.Val1181del) c.3451_3453del (p.Val1151del) c.2713_2715del (p.Val905del) c.3496_3498del (p.Val1166del) c.*3331_*3333del (n.*3331_*3333del) c.*120_*122del (n.*120_*122del) n.3865_3867del c.3679_3681del (p.Val1227del) c.3634_3636del (p.Val1212del) c.3589_3591del (p.Val1197del) c.3658_3660del (p.Val1220del) c.3643_3645del (p.Val1215del) c.3622_3624del (p.Val1208del) c.3616_3618del (p.Val1206del) c.3571_3573del (p.Val1191del) c.3562_3564del (p.Val1188del) c.3538_3540del (p.Val1180del) c.3532_3534del (p.Val1178del) c.3505_3507del (p.Val1169del) c.3499_3501del (p.Val1167del) c.3493_3495del (p.Val1165del) c.3454_3456del (p.Val1152del) c.3442_3444del (p.Val1148del) c.3385_3387del (p.Val1129del) c.3361_3363del (p.Val1121del) c.3355_3357del (p.Val1119del) c.3337_3339del (p.Val1113del) c.3283_3285del (p.Val1095del) c.2590_2592del (p.Val864del) c.2503_2505del (p.Val835del) n.3779_3781del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727815T>A | CA399313421 | ERBB2 | c.3539T>A (p.Val1180Asp) c.3449T>A (p.Val1150Asp) c.2711T>A (p.Val904Asp) c.3494T>A (p.Val1165Asp) c.*3329T>A (n.*3329T>A) c.*118T>A (n.*118T>A) n.3863T>A c.3677T>A (p.Val1226Asp) c.3632T>A (p.Val1211Asp) c.3587T>A (p.Val1196Asp) c.3656T>A (p.Val1219Asp) c.3641T>A (p.Val1214Asp) c.3620T>A (p.Val1207Asp) c.3614T>A (p.Val1205Asp) c.3569T>A (p.Val1190Asp) c.3560T>A (p.Val1187Asp) c.3536T>A (p.Val1179Asp) c.3530T>A (p.Val1177Asp) c.3503T>A (p.Val1168Asp) c.3497T>A (p.Val1166Asp) c.3491T>A (p.Val1164Asp) c.3452T>A (p.Val1151Asp) c.3440T>A (p.Val1147Asp) c.3383T>A (p.Val1128Asp) c.3359T>A (p.Val1120Asp) c.3353T>A (p.Val1118Asp) c.3335T>A (p.Val1112Asp) c.3281T>A (p.Val1094Asp) c.2588T>A (p.Val863Asp) c.2501T>A (p.Val834Asp) n.3777T>A | dbSNP |
17 | g.39727815T>C | CA399313423 | ERBB2 | c.3539T>C (p.Val1180Ala) c.3449T>C (p.Val1150Ala) c.2711T>C (p.Val904Ala) c.3494T>C (p.Val1165Ala) c.*3329T>C (n.*3329T>C) c.*118T>C (n.*118T>C) n.3863T>C c.3677T>C (p.Val1226Ala) c.3632T>C (p.Val1211Ala) c.3587T>C (p.Val1196Ala) c.3656T>C (p.Val1219Ala) c.3641T>C (p.Val1214Ala) c.3620T>C (p.Val1207Ala) c.3614T>C (p.Val1205Ala) c.3569T>C (p.Val1190Ala) c.3560T>C (p.Val1187Ala) c.3536T>C (p.Val1179Ala) c.3530T>C (p.Val1177Ala) c.3503T>C (p.Val1168Ala) c.3497T>C (p.Val1166Ala) c.3491T>C (p.Val1164Ala) c.3452T>C (p.Val1151Ala) c.3440T>C (p.Val1147Ala) c.3383T>C (p.Val1128Ala) c.3359T>C (p.Val1120Ala) c.3353T>C (p.Val1118Ala) c.3335T>C (p.Val1112Ala) c.3281T>C (p.Val1094Ala) c.2588T>C (p.Val863Ala) c.2501T>C (p.Val834Ala) n.3777T>C | dbSNP |
17 | g.39727815T>G | CA399313424 | ERBB2 | c.3539T>G (p.Val1180Gly) c.3449T>G (p.Val1150Gly) c.2711T>G (p.Val904Gly) c.3494T>G (p.Val1165Gly) c.*3329T>G (n.*3329T>G) c.*118T>G (n.*118T>G) n.3863T>G c.3677T>G (p.Val1226Gly) c.3632T>G (p.Val1211Gly) c.3587T>G (p.Val1196Gly) c.3656T>G (p.Val1219Gly) c.3641T>G (p.Val1214Gly) c.3620T>G (p.Val1207Gly) c.3614T>G (p.Val1205Gly) c.3569T>G (p.Val1190Gly) c.3560T>G (p.Val1187Gly) c.3536T>G (p.Val1179Gly) c.3530T>G (p.Val1177Gly) c.3503T>G (p.Val1168Gly) c.3497T>G (p.Val1166Gly) c.3491T>G (p.Val1164Gly) c.3452T>G (p.Val1151Gly) c.3440T>G (p.Val1147Gly) c.3383T>G (p.Val1128Gly) c.3359T>G (p.Val1120Gly) c.3353T>G (p.Val1118Gly) c.3335T>G (p.Val1112Gly) c.3281T>G (p.Val1094Gly) c.2588T>G (p.Val863Gly) c.2501T>G (p.Val834Gly) n.3777T>G | dbSNP |
17 | g.39727816C>A | CA499890723 | ERBB2 | c.3540C>A (p.Val1180=) c.3450C>A (p.Val1150=) c.2712C>A (p.Val904=) c.3495C>A (p.Val1165=) c.*3330C>A (n.*3330C>A) c.*119C>A (n.*119C>A) n.3864C>A c.3678C>A (p.Val1226=) c.3633C>A (p.Val1211=) c.3588C>A (p.Val1196=) c.3657C>A (p.Val1219=) c.3642C>A (p.Val1214=) c.3621C>A (p.Val1207=) c.3615C>A (p.Val1205=) c.3570C>A (p.Val1190=) c.3561C>A (p.Val1187=) c.3537C>A (p.Val1179=) c.3531C>A (p.Val1177=) c.3504C>A (p.Val1168=) c.3498C>A (p.Val1166=) c.3492C>A (p.Val1164=) c.3453C>A (p.Val1151=) c.3441C>A (p.Val1147=) c.3384C>A (p.Val1128=) c.3360C>A (p.Val1120=) c.3354C>A (p.Val1118=) c.3336C>A (p.Val1112=) c.3282C>A (p.Val1094=) c.2589C>A (p.Val863=) c.2502C>A (p.Val834=) n.3778C>A | dbSNP |
17 | g.39727816C= | CA2259229275 | ERBB2 | c.3540C= (p.Val1180=) c.3450C= (p.Val1150=) c.2712C= (p.Val904=) c.3495C= (p.Val1165=) c.*3330C= (n.*3330C=) c.*119C= (n.*119C=) n.3864C= c.3678C= (p.Val1226=) c.3633C= (p.Val1211=) c.3588C= (p.Val1196=) c.3657C= (p.Val1219=) c.3642C= (p.Val1214=) c.3621C= (p.Val1207=) c.3615C= (p.Val1205=) c.3570C= (p.Val1190=) c.3561C= (p.Val1187=) c.3537C= (p.Val1179=) c.3531C= (p.Val1177=) c.3504C= (p.Val1168=) c.3498C= (p.Val1166=) c.3492C= (p.Val1164=) c.3453C= (p.Val1151=) c.3441C= (p.Val1147=) c.3384C= (p.Val1128=) c.3360C= (p.Val1120=) c.3354C= (p.Val1118=) c.3336C= (p.Val1112=) c.3282C= (p.Val1094=) c.2589C= (p.Val863=) c.2502C= (p.Val834=) n.3778C= | |
17 | g.39727816C>G | CA499890724 | ERBB2 | c.3540C>G (p.Val1180=) c.3450C>G (p.Val1150=) c.2712C>G (p.Val904=) c.3495C>G (p.Val1165=) c.*3330C>G (n.*3330C>G) c.*119C>G (n.*119C>G) n.3864C>G c.3678C>G (p.Val1226=) c.3633C>G (p.Val1211=) c.3588C>G (p.Val1196=) c.3657C>G (p.Val1219=) c.3642C>G (p.Val1214=) c.3621C>G (p.Val1207=) c.3615C>G (p.Val1205=) c.3570C>G (p.Val1190=) c.3561C>G (p.Val1187=) c.3537C>G (p.Val1179=) c.3531C>G (p.Val1177=) c.3504C>G (p.Val1168=) c.3498C>G (p.Val1166=) c.3492C>G (p.Val1164=) c.3453C>G (p.Val1151=) c.3441C>G (p.Val1147=) c.3384C>G (p.Val1128=) c.3360C>G (p.Val1120=) c.3354C>G (p.Val1118=) c.3336C>G (p.Val1112=) c.3282C>G (p.Val1094=) c.2589C>G (p.Val863=) c.2502C>G (p.Val834=) n.3778C>G | dbSNP |
17 | g.39727816C>T | CA8534580 | ERBB2 | c.3540C>T (p.Val1180=) c.3450C>T (p.Val1150=) c.2712C>T (p.Val904=) c.3495C>T (p.Val1165=) c.*3330C>T (n.*3330C>T) c.*119C>T (n.*119C>T) n.3864C>T c.3678C>T (p.Val1226=) c.3633C>T (p.Val1211=) c.3588C>T (p.Val1196=) c.3657C>T (p.Val1219=) c.3642C>T (p.Val1214=) c.3621C>T (p.Val1207=) c.3615C>T (p.Val1205=) c.3570C>T (p.Val1190=) c.3561C>T (p.Val1187=) c.3537C>T (p.Val1179=) c.3531C>T (p.Val1177=) c.3504C>T (p.Val1168=) c.3498C>T (p.Val1166=) c.3492C>T (p.Val1164=) c.3453C>T (p.Val1151=) c.3441C>T (p.Val1147=) c.3384C>T (p.Val1128=) c.3360C>T (p.Val1120=) c.3354C>T (p.Val1118=) c.3336C>T (p.Val1112=) c.3282C>T (p.Val1094=) c.2589C>T (p.Val863=) c.2502C>T (p.Val834=) n.3778C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727817G>A | CA8534581 | ERBB2 | c.3541G>A (p.Val1181Ile) c.3451G>A (p.Val1151Ile) c.2713G>A (p.Val905Ile) c.3496G>A (p.Val1166Ile) c.*3331G>A (n.*3331G>A) c.*120G>A (n.*120G>A) n.3865G>A c.3679G>A (p.Val1227Ile) c.3634G>A (p.Val1212Ile) c.3589G>A (p.Val1197Ile) c.3658G>A (p.Val1220Ile) c.3643G>A (p.Val1215Ile) c.3622G>A (p.Val1208Ile) c.3616G>A (p.Val1206Ile) c.3571G>A (p.Val1191Ile) c.3562G>A (p.Val1188Ile) c.3538G>A (p.Val1180Ile) c.3532G>A (p.Val1178Ile) c.3505G>A (p.Val1169Ile) c.3499G>A (p.Val1167Ile) c.3493G>A (p.Val1165Ile) c.3454G>A (p.Val1152Ile) c.3442G>A (p.Val1148Ile) c.3385G>A (p.Val1129Ile) c.3361G>A (p.Val1121Ile) c.3355G>A (p.Val1119Ile) c.3337G>A (p.Val1113Ile) c.3283G>A (p.Val1095Ile) c.2590G>A (p.Val864Ile) c.2503G>A (p.Val835Ile) n.3779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727817G>C | CA399313435 | ERBB2 | c.3541G>C (p.Val1181Leu) c.3451G>C (p.Val1151Leu) c.2713G>C (p.Val905Leu) c.3496G>C (p.Val1166Leu) c.*3331G>C (n.*3331G>C) c.*120G>C (n.*120G>C) n.3865G>C c.3679G>C (p.Val1227Leu) c.3634G>C (p.Val1212Leu) c.3589G>C (p.Val1197Leu) c.3658G>C (p.Val1220Leu) c.3643G>C (p.Val1215Leu) c.3622G>C (p.Val1208Leu) c.3616G>C (p.Val1206Leu) c.3571G>C (p.Val1191Leu) c.3562G>C (p.Val1188Leu) c.3538G>C (p.Val1180Leu) c.3532G>C (p.Val1178Leu) c.3505G>C (p.Val1169Leu) c.3499G>C (p.Val1167Leu) c.3493G>C (p.Val1165Leu) c.3454G>C (p.Val1152Leu) c.3442G>C (p.Val1148Leu) c.3385G>C (p.Val1129Leu) c.3361G>C (p.Val1121Leu) c.3355G>C (p.Val1119Leu) c.3337G>C (p.Val1113Leu) c.3283G>C (p.Val1095Leu) c.2590G>C (p.Val864Leu) c.2503G>C (p.Val835Leu) n.3779G>C | dbSNP |
17 | g.39727817G= | CA2259229276 | ERBB2 | c.3541G= (p.Val1181=) c.3451G= (p.Val1151=) c.2713G= (p.Val905=) c.3496G= (p.Val1166=) c.*3331G= (n.*3331G=) c.*120G= (n.*120G=) n.3865G= c.3679G= (p.Val1227=) c.3634G= (p.Val1212=) c.3589G= (p.Val1197=) c.3658G= (p.Val1220=) c.3643G= (p.Val1215=) c.3622G= (p.Val1208=) c.3616G= (p.Val1206=) c.3571G= (p.Val1191=) c.3562G= (p.Val1188=) c.3538G= (p.Val1180=) c.3532G= (p.Val1178=) c.3505G= (p.Val1169=) c.3499G= (p.Val1167=) c.3493G= (p.Val1165=) c.3454G= (p.Val1152=) c.3442G= (p.Val1148=) c.3385G= (p.Val1129=) c.3361G= (p.Val1121=) c.3355G= (p.Val1119=) c.3337G= (p.Val1113=) c.3283G= (p.Val1095=) c.2590G= (p.Val864=) c.2503G= (p.Val835=) n.3779G= | |
17 | g.39727817G>T | CA399313438 | ERBB2 | c.3541G>T (p.Val1181Phe) c.3451G>T (p.Val1151Phe) c.2713G>T (p.Val905Phe) c.3496G>T (p.Val1166Phe) c.*3331G>T (n.*3331G>T) c.*120G>T (n.*120G>T) n.3865G>T c.3679G>T (p.Val1227Phe) c.3634G>T (p.Val1212Phe) c.3589G>T (p.Val1197Phe) c.3658G>T (p.Val1220Phe) c.3643G>T (p.Val1215Phe) c.3622G>T (p.Val1208Phe) c.3616G>T (p.Val1206Phe) c.3571G>T (p.Val1191Phe) c.3562G>T (p.Val1188Phe) c.3538G>T (p.Val1180Phe) c.3532G>T (p.Val1178Phe) c.3505G>T (p.Val1169Phe) c.3499G>T (p.Val1167Phe) c.3493G>T (p.Val1165Phe) c.3454G>T (p.Val1152Phe) c.3442G>T (p.Val1148Phe) c.3385G>T (p.Val1129Phe) c.3361G>T (p.Val1121Phe) c.3355G>T (p.Val1119Phe) c.3337G>T (p.Val1113Phe) c.3283G>T (p.Val1095Phe) c.2590G>T (p.Val864Phe) c.2503G>T (p.Val835Phe) n.3779G>T | |
17 | g.39727818T>A | CA399313444 | ERBB2 | c.3542T>A (p.Val1181Asp) c.3452T>A (p.Val1151Asp) c.2714T>A (p.Val905Asp) c.3497T>A (p.Val1166Asp) c.*3332T>A (n.*3332T>A) c.*121T>A (n.*121T>A) n.3866T>A c.3680T>A (p.Val1227Asp) c.3635T>A (p.Val1212Asp) c.3590T>A (p.Val1197Asp) c.3659T>A (p.Val1220Asp) c.3644T>A (p.Val1215Asp) c.3623T>A (p.Val1208Asp) c.3617T>A (p.Val1206Asp) c.3572T>A (p.Val1191Asp) c.3563T>A (p.Val1188Asp) c.3539T>A (p.Val1180Asp) c.3533T>A (p.Val1178Asp) c.3506T>A (p.Val1169Asp) c.3500T>A (p.Val1167Asp) c.3494T>A (p.Val1165Asp) c.3455T>A (p.Val1152Asp) c.3443T>A (p.Val1148Asp) c.3386T>A (p.Val1129Asp) c.3362T>A (p.Val1121Asp) c.3356T>A (p.Val1119Asp) c.3338T>A (p.Val1113Asp) c.3284T>A (p.Val1095Asp) c.2591T>A (p.Val864Asp) c.2504T>A (p.Val835Asp) n.3780T>A | dbSNP |
17 | g.39727818T>C | CA399313446 | ERBB2 | c.3542T>C (p.Val1181Ala) c.3452T>C (p.Val1151Ala) c.2714T>C (p.Val905Ala) c.3497T>C (p.Val1166Ala) c.*3332T>C (n.*3332T>C) c.*121T>C (n.*121T>C) n.3866T>C c.3680T>C (p.Val1227Ala) c.3635T>C (p.Val1212Ala) c.3590T>C (p.Val1197Ala) c.3659T>C (p.Val1220Ala) c.3644T>C (p.Val1215Ala) c.3623T>C (p.Val1208Ala) c.3617T>C (p.Val1206Ala) c.3572T>C (p.Val1191Ala) c.3563T>C (p.Val1188Ala) c.3539T>C (p.Val1180Ala) c.3533T>C (p.Val1178Ala) c.3506T>C (p.Val1169Ala) c.3500T>C (p.Val1167Ala) c.3494T>C (p.Val1165Ala) c.3455T>C (p.Val1152Ala) c.3443T>C (p.Val1148Ala) c.3386T>C (p.Val1129Ala) c.3362T>C (p.Val1121Ala) c.3356T>C (p.Val1119Ala) c.3338T>C (p.Val1113Ala) c.3284T>C (p.Val1095Ala) c.2591T>C (p.Val864Ala) c.2504T>C (p.Val835Ala) n.3780T>C | dbSNP |
17 | g.39727818T>G | CA399313450 | ERBB2 | c.3542T>G (p.Val1181Gly) c.3452T>G (p.Val1151Gly) c.2714T>G (p.Val905Gly) c.3497T>G (p.Val1166Gly) c.*3332T>G (n.*3332T>G) c.*121T>G (n.*121T>G) n.3866T>G c.3680T>G (p.Val1227Gly) c.3635T>G (p.Val1212Gly) c.3590T>G (p.Val1197Gly) c.3659T>G (p.Val1220Gly) c.3644T>G (p.Val1215Gly) c.3623T>G (p.Val1208Gly) c.3617T>G (p.Val1206Gly) c.3572T>G (p.Val1191Gly) c.3563T>G (p.Val1188Gly) c.3539T>G (p.Val1180Gly) c.3533T>G (p.Val1178Gly) c.3506T>G (p.Val1169Gly) c.3500T>G (p.Val1167Gly) c.3494T>G (p.Val1165Gly) c.3455T>G (p.Val1152Gly) c.3443T>G (p.Val1148Gly) c.3386T>G (p.Val1129Gly) c.3362T>G (p.Val1121Gly) c.3356T>G (p.Val1119Gly) c.3338T>G (p.Val1113Gly) c.3284T>G (p.Val1095Gly) c.2591T>G (p.Val864Gly) c.2504T>G (p.Val835Gly) n.3780T>G | dbSNP |
17 | g.39727819C>A | CA499890725 | ERBB2 | c.3543C>A (p.Val1181=) c.3453C>A (p.Val1151=) c.2715C>A (p.Val905=) c.3498C>A (p.Val1166=) c.*3333C>A (n.*3333C>A) c.*122C>A (n.*122C>A) n.3867C>A c.3681C>A (p.Val1227=) c.3636C>A (p.Val1212=) c.3591C>A (p.Val1197=) c.3660C>A (p.Val1220=) c.3645C>A (p.Val1215=) c.3624C>A (p.Val1208=) c.3618C>A (p.Val1206=) c.3573C>A (p.Val1191=) c.3564C>A (p.Val1188=) c.3540C>A (p.Val1180=) c.3534C>A (p.Val1178=) c.3507C>A (p.Val1169=) c.3501C>A (p.Val1167=) c.3495C>A (p.Val1165=) c.3456C>A (p.Val1152=) c.3444C>A (p.Val1148=) c.3387C>A (p.Val1129=) c.3363C>A (p.Val1121=) c.3357C>A (p.Val1119=) c.3339C>A (p.Val1113=) c.3285C>A (p.Val1095=) c.2592C>A (p.Val864=) c.2505C>A (p.Val835=) n.3781C>A | dbSNP |
17 | g.39727819C>G | CA499890726 | ERBB2 | c.3543C>G (p.Val1181=) c.3453C>G (p.Val1151=) c.2715C>G (p.Val905=) c.3498C>G (p.Val1166=) c.*3333C>G (n.*3333C>G) c.*122C>G (n.*122C>G) n.3867C>G c.3681C>G (p.Val1227=) c.3636C>G (p.Val1212=) c.3591C>G (p.Val1197=) c.3660C>G (p.Val1220=) c.3645C>G (p.Val1215=) c.3624C>G (p.Val1208=) c.3618C>G (p.Val1206=) c.3573C>G (p.Val1191=) c.3564C>G (p.Val1188=) c.3540C>G (p.Val1180=) c.3534C>G (p.Val1178=) c.3507C>G (p.Val1169=) c.3501C>G (p.Val1167=) c.3495C>G (p.Val1165=) c.3456C>G (p.Val1152=) c.3444C>G (p.Val1148=) c.3387C>G (p.Val1129=) c.3363C>G (p.Val1121=) c.3357C>G (p.Val1119=) c.3339C>G (p.Val1113=) c.3285C>G (p.Val1095=) c.2592C>G (p.Val864=) c.2505C>G (p.Val835=) n.3781C>G | dbSNP |
17 | g.39727819C>T | CA499890727 | ERBB2 | c.3543C>T (p.Val1181=) c.3453C>T (p.Val1151=) c.2715C>T (p.Val905=) c.3498C>T (p.Val1166=) c.*3333C>T (n.*3333C>T) c.*122C>T (n.*122C>T) n.3867C>T c.3681C>T (p.Val1227=) c.3636C>T (p.Val1212=) c.3591C>T (p.Val1197=) c.3660C>T (p.Val1220=) c.3645C>T (p.Val1215=) c.3624C>T (p.Val1208=) c.3618C>T (p.Val1206=) c.3573C>T (p.Val1191=) c.3564C>T (p.Val1188=) c.3540C>T (p.Val1180=) c.3534C>T (p.Val1178=) c.3507C>T (p.Val1169=) c.3501C>T (p.Val1167=) c.3495C>T (p.Val1165=) c.3456C>T (p.Val1152=) c.3444C>T (p.Val1148=) c.3387C>T (p.Val1129=) c.3363C>T (p.Val1121=) c.3357C>T (p.Val1119=) c.3339C>T (p.Val1113=) c.3285C>T (p.Val1095=) c.2592C>T (p.Val864=) c.2505C>T (p.Val835=) n.3781C>T | dbSNP |
17 | g.39727820A= | CA2259229277 | ERBB2 | c.3544A= (p.Lys1182=) c.3454A= (p.Lys1152=) c.2716A= (p.Lys906=) c.3499A= (p.Lys1167=) c.*3334A= (n.*3334A=) c.*123A= (n.*123A=) n.3868A= c.3682A= (p.Lys1228=) c.3637A= (p.Lys1213=) c.3592A= (p.Lys1198=) c.3661A= (p.Lys1221=) c.3646A= (p.Lys1216=) c.3625A= (p.Lys1209=) c.3619A= (p.Lys1207=) c.3574A= (p.Lys1192=) c.3565A= (p.Lys1189=) c.3541A= (p.Lys1181=) c.3535A= (p.Lys1179=) c.3508A= (p.Lys1170=) c.3502A= (p.Lys1168=) c.3496A= (p.Lys1166=) c.3457A= (p.Lys1153=) c.3445A= (p.Lys1149=) c.3388A= (p.Lys1130=) c.3364A= (p.Lys1122=) c.3358A= (p.Lys1120=) c.3340A= (p.Lys1114=) c.3286A= (p.Lys1096=) c.2593A= (p.Lys865=) c.2506A= (p.Lys836=) n.3782A= | |
17 | g.39727820A>C | CA8534582 | ERBB2 | c.3544A>C (p.Lys1182Gln) c.3454A>C (p.Lys1152Gln) c.2716A>C (p.Lys906Gln) c.3499A>C (p.Lys1167Gln) c.*3334A>C (n.*3334A>C) c.*123A>C (n.*123A>C) n.3868A>C c.3682A>C (p.Lys1228Gln) c.3637A>C (p.Lys1213Gln) c.3592A>C (p.Lys1198Gln) c.3661A>C (p.Lys1221Gln) c.3646A>C (p.Lys1216Gln) c.3625A>C (p.Lys1209Gln) c.3619A>C (p.Lys1207Gln) c.3574A>C (p.Lys1192Gln) c.3565A>C (p.Lys1189Gln) c.3541A>C (p.Lys1181Gln) c.3535A>C (p.Lys1179Gln) c.3508A>C (p.Lys1170Gln) c.3502A>C (p.Lys1168Gln) c.3496A>C (p.Lys1166Gln) c.3457A>C (p.Lys1153Gln) c.3445A>C (p.Lys1149Gln) c.3388A>C (p.Lys1130Gln) c.3364A>C (p.Lys1122Gln) c.3358A>C (p.Lys1120Gln) c.3340A>C (p.Lys1114Gln) c.3286A>C (p.Lys1096Gln) c.2593A>C (p.Lys865Gln) c.2506A>C (p.Lys836Gln) n.3782A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727820A>G | CA399313454 | ERBB2 | c.3544A>G (p.Lys1182Glu) c.3454A>G (p.Lys1152Glu) c.2716A>G (p.Lys906Glu) c.3499A>G (p.Lys1167Glu) c.*3334A>G (n.*3334A>G) c.*123A>G (n.*123A>G) n.3868A>G c.3682A>G (p.Lys1228Glu) c.3637A>G (p.Lys1213Glu) c.3592A>G (p.Lys1198Glu) c.3661A>G (p.Lys1221Glu) c.3646A>G (p.Lys1216Glu) c.3625A>G (p.Lys1209Glu) c.3619A>G (p.Lys1207Glu) c.3574A>G (p.Lys1192Glu) c.3565A>G (p.Lys1189Glu) c.3541A>G (p.Lys1181Glu) c.3535A>G (p.Lys1179Glu) c.3508A>G (p.Lys1170Glu) c.3502A>G (p.Lys1168Glu) c.3496A>G (p.Lys1166Glu) c.3457A>G (p.Lys1153Glu) c.3445A>G (p.Lys1149Glu) c.3388A>G (p.Lys1130Glu) c.3364A>G (p.Lys1122Glu) c.3358A>G (p.Lys1120Glu) c.3340A>G (p.Lys1114Glu) c.3286A>G (p.Lys1096Glu) c.2593A>G (p.Lys865Glu) c.2506A>G (p.Lys836Glu) n.3782A>G | dbSNP gnomAD v4 |
17 | g.39727820A>T | CA399313457 | ERBB2 | c.3544A>T (p.Lys1182Ter) c.3454A>T (p.Lys1152Ter) c.2716A>T (p.Lys906Ter) c.3499A>T (p.Lys1167Ter) c.*3334A>T (n.*3334A>T) c.*123A>T (n.*123A>T) n.3868A>T c.3682A>T (p.Lys1228Ter) c.3637A>T (p.Lys1213Ter) c.3592A>T (p.Lys1198Ter) c.3661A>T (p.Lys1221Ter) c.3646A>T (p.Lys1216Ter) c.3625A>T (p.Lys1209Ter) c.3619A>T (p.Lys1207Ter) c.3574A>T (p.Lys1192Ter) c.3565A>T (p.Lys1189Ter) c.3541A>T (p.Lys1181Ter) c.3535A>T (p.Lys1179Ter) c.3508A>T (p.Lys1170Ter) c.3502A>T (p.Lys1168Ter) c.3496A>T (p.Lys1166Ter) c.3457A>T (p.Lys1153Ter) c.3445A>T (p.Lys1149Ter) c.3388A>T (p.Lys1130Ter) c.3364A>T (p.Lys1122Ter) c.3358A>T (p.Lys1120Ter) c.3340A>T (p.Lys1114Ter) c.3286A>T (p.Lys1096Ter) c.2593A>T (p.Lys865Ter) c.2506A>T (p.Lys836Ter) n.3782A>T | dbSNP |
17 | g.39727821A= | CA2259229278 | ERBB2 | c.3545A= (p.Lys1182=) c.3455A= (p.Lys1152=) c.2717A= (p.Lys906=) c.3500A= (p.Lys1167=) c.*3335A= (n.*3335A=) c.*124A= (n.*124A=) n.3869A= c.3683A= (p.Lys1228=) c.3638A= (p.Lys1213=) c.3593A= (p.Lys1198=) c.3662A= (p.Lys1221=) c.3647A= (p.Lys1216=) c.3626A= (p.Lys1209=) c.3620A= (p.Lys1207=) c.3575A= (p.Lys1192=) c.3566A= (p.Lys1189=) c.3542A= (p.Lys1181=) c.3536A= (p.Lys1179=) c.3509A= (p.Lys1170=) c.3503A= (p.Lys1168=) c.3497A= (p.Lys1166=) c.3458A= (p.Lys1153=) c.3446A= (p.Lys1149=) c.3389A= (p.Lys1130=) c.3365A= (p.Lys1122=) c.3359A= (p.Lys1120=) c.3341A= (p.Lys1114=) c.3287A= (p.Lys1096=) c.2594A= (p.Lys865=) c.2507A= (p.Lys836=) n.3783A= | |
17 | g.39727821A>C | CA399313461 | ERBB2 | c.3545A>C (p.Lys1182Thr) c.3455A>C (p.Lys1152Thr) c.2717A>C (p.Lys906Thr) c.3500A>C (p.Lys1167Thr) c.*3335A>C (n.*3335A>C) c.*124A>C (n.*124A>C) n.3869A>C c.3683A>C (p.Lys1228Thr) c.3638A>C (p.Lys1213Thr) c.3593A>C (p.Lys1198Thr) c.3662A>C (p.Lys1221Thr) c.3647A>C (p.Lys1216Thr) c.3626A>C (p.Lys1209Thr) c.3620A>C (p.Lys1207Thr) c.3575A>C (p.Lys1192Thr) c.3566A>C (p.Lys1189Thr) c.3542A>C (p.Lys1181Thr) c.3536A>C (p.Lys1179Thr) c.3509A>C (p.Lys1170Thr) c.3503A>C (p.Lys1168Thr) c.3497A>C (p.Lys1166Thr) c.3458A>C (p.Lys1153Thr) c.3446A>C (p.Lys1149Thr) c.3389A>C (p.Lys1130Thr) c.3365A>C (p.Lys1122Thr) c.3359A>C (p.Lys1120Thr) c.3341A>C (p.Lys1114Thr) c.3287A>C (p.Lys1096Thr) c.2594A>C (p.Lys865Thr) c.2507A>C (p.Lys836Thr) n.3783A>C | dbSNP |
17 | g.39727821A>G | CA8534583 | ERBB2 | c.3545A>G (p.Lys1182Arg) c.3455A>G (p.Lys1152Arg) c.2717A>G (p.Lys906Arg) c.3500A>G (p.Lys1167Arg) c.*3335A>G (n.*3335A>G) c.*124A>G (n.*124A>G) n.3869A>G c.3683A>G (p.Lys1228Arg) c.3638A>G (p.Lys1213Arg) c.3593A>G (p.Lys1198Arg) c.3662A>G (p.Lys1221Arg) c.3647A>G (p.Lys1216Arg) c.3626A>G (p.Lys1209Arg) c.3620A>G (p.Lys1207Arg) c.3575A>G (p.Lys1192Arg) c.3566A>G (p.Lys1189Arg) c.3542A>G (p.Lys1181Arg) c.3536A>G (p.Lys1179Arg) c.3509A>G (p.Lys1170Arg) c.3503A>G (p.Lys1168Arg) c.3497A>G (p.Lys1166Arg) c.3458A>G (p.Lys1153Arg) c.3446A>G (p.Lys1149Arg) c.3389A>G (p.Lys1130Arg) c.3365A>G (p.Lys1122Arg) c.3359A>G (p.Lys1120Arg) c.3341A>G (p.Lys1114Arg) c.3287A>G (p.Lys1096Arg) c.2594A>G (p.Lys865Arg) c.2507A>G (p.Lys836Arg) n.3783A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727821A>T | CA399313465 | ERBB2 | c.3545A>T (p.Lys1182Ile) c.3455A>T (p.Lys1152Ile) c.2717A>T (p.Lys906Ile) c.3500A>T (p.Lys1167Ile) c.*3335A>T (n.*3335A>T) c.*124A>T (n.*124A>T) n.3869A>T c.3683A>T (p.Lys1228Ile) c.3638A>T (p.Lys1213Ile) c.3593A>T (p.Lys1198Ile) c.3662A>T (p.Lys1221Ile) c.3647A>T (p.Lys1216Ile) c.3626A>T (p.Lys1209Ile) c.3620A>T (p.Lys1207Ile) c.3575A>T (p.Lys1192Ile) c.3566A>T (p.Lys1189Ile) c.3542A>T (p.Lys1181Ile) c.3536A>T (p.Lys1179Ile) c.3509A>T (p.Lys1170Ile) c.3503A>T (p.Lys1168Ile) c.3497A>T (p.Lys1166Ile) c.3458A>T (p.Lys1153Ile) c.3446A>T (p.Lys1149Ile) c.3389A>T (p.Lys1130Ile) c.3365A>T (p.Lys1122Ile) c.3359A>T (p.Lys1120Ile) c.3341A>T (p.Lys1114Ile) c.3287A>T (p.Lys1096Ile) c.2594A>T (p.Lys865Ile) c.2507A>T (p.Lys836Ile) n.3783A>T | dbSNP |
17 | g.39727822A>C | CA399313469 | ERBB2 | c.3546A>C (p.Lys1182Asn) c.3456A>C (p.Lys1152Asn) c.2718A>C (p.Lys906Asn) c.3501A>C (p.Lys1167Asn) c.*3336A>C (n.*3336A>C) c.*125A>C (n.*125A>C) n.3870A>C c.3684A>C (p.Lys1228Asn) c.3639A>C (p.Lys1213Asn) c.3594A>C (p.Lys1198Asn) c.3663A>C (p.Lys1221Asn) c.3648A>C (p.Lys1216Asn) c.3627A>C (p.Lys1209Asn) c.3621A>C (p.Lys1207Asn) c.3576A>C (p.Lys1192Asn) c.3567A>C (p.Lys1189Asn) c.3543A>C (p.Lys1181Asn) c.3537A>C (p.Lys1179Asn) c.3510A>C (p.Lys1170Asn) c.3504A>C (p.Lys1168Asn) c.3498A>C (p.Lys1166Asn) c.3459A>C (p.Lys1153Asn) c.3447A>C (p.Lys1149Asn) c.3390A>C (p.Lys1130Asn) c.3366A>C (p.Lys1122Asn) c.3360A>C (p.Lys1120Asn) c.3342A>C (p.Lys1114Asn) c.3288A>C (p.Lys1096Asn) c.2595A>C (p.Lys865Asn) c.2508A>C (p.Lys836Asn) n.3784A>C | |
17 | g.39727822A>G | CA499890728 | ERBB2 | c.3546A>G (p.Lys1182=) c.3456A>G (p.Lys1152=) c.2718A>G (p.Lys906=) c.3501A>G (p.Lys1167=) c.*3336A>G (n.*3336A>G) c.*125A>G (n.*125A>G) n.3870A>G c.3684A>G (p.Lys1228=) c.3639A>G (p.Lys1213=) c.3594A>G (p.Lys1198=) c.3663A>G (p.Lys1221=) c.3648A>G (p.Lys1216=) c.3627A>G (p.Lys1209=) c.3621A>G (p.Lys1207=) c.3576A>G (p.Lys1192=) c.3567A>G (p.Lys1189=) c.3543A>G (p.Lys1181=) c.3537A>G (p.Lys1179=) c.3510A>G (p.Lys1170=) c.3504A>G (p.Lys1168=) c.3498A>G (p.Lys1166=) c.3459A>G (p.Lys1153=) c.3447A>G (p.Lys1149=) c.3390A>G (p.Lys1130=) c.3366A>G (p.Lys1122=) c.3360A>G (p.Lys1120=) c.3342A>G (p.Lys1114=) c.3288A>G (p.Lys1096=) c.2595A>G (p.Lys865=) c.2508A>G (p.Lys836=) n.3784A>G | |
17 | g.39727822A>T | CA399313473 | ERBB2 | c.3546A>T (p.Lys1182Asn) c.3456A>T (p.Lys1152Asn) c.2718A>T (p.Lys906Asn) c.3501A>T (p.Lys1167Asn) c.*3336A>T (n.*3336A>T) c.*125A>T (n.*125A>T) n.3870A>T c.3684A>T (p.Lys1228Asn) c.3639A>T (p.Lys1213Asn) c.3594A>T (p.Lys1198Asn) c.3663A>T (p.Lys1221Asn) c.3648A>T (p.Lys1216Asn) c.3627A>T (p.Lys1209Asn) c.3621A>T (p.Lys1207Asn) c.3576A>T (p.Lys1192Asn) c.3567A>T (p.Lys1189Asn) c.3543A>T (p.Lys1181Asn) c.3537A>T (p.Lys1179Asn) c.3510A>T (p.Lys1170Asn) c.3504A>T (p.Lys1168Asn) c.3498A>T (p.Lys1166Asn) c.3459A>T (p.Lys1153Asn) c.3447A>T (p.Lys1149Asn) c.3390A>T (p.Lys1130Asn) c.3366A>T (p.Lys1122Asn) c.3360A>T (p.Lys1120Asn) c.3342A>T (p.Lys1114Asn) c.3288A>T (p.Lys1096Asn) c.2595A>T (p.Lys865Asn) c.2508A>T (p.Lys836Asn) n.3784A>T | |
17 | g.39727823G>A | CA399313482 | ERBB2 | c.3547G>A (p.Asp1183Asn) c.3457G>A (p.Asp1153Asn) c.2719G>A (p.Asp907Asn) c.3502G>A (p.Asp1168Asn) c.*3337G>A (n.*3337G>A) c.*126G>A (n.*126G>A) n.3871G>A c.3685G>A (p.Asp1229Asn) c.3640G>A (p.Asp1214Asn) c.3595G>A (p.Asp1199Asn) c.3664G>A (p.Asp1222Asn) c.3649G>A (p.Asp1217Asn) c.3628G>A (p.Asp1210Asn) c.3622G>A (p.Asp1208Asn) c.3577G>A (p.Asp1193Asn) c.3568G>A (p.Asp1190Asn) c.3544G>A (p.Asp1182Asn) c.3538G>A (p.Asp1180Asn) c.3511G>A (p.Asp1171Asn) c.3505G>A (p.Asp1169Asn) c.3499G>A (p.Asp1167Asn) c.3460G>A (p.Asp1154Asn) c.3448G>A (p.Asp1150Asn) c.3391G>A (p.Asp1131Asn) c.3367G>A (p.Asp1123Asn) c.3361G>A (p.Asp1121Asn) c.3343G>A (p.Asp1115Asn) c.3289G>A (p.Asp1097Asn) c.2596G>A (p.Asp866Asn) c.2509G>A (p.Asp837Asn) n.3785G>A | dbSNP |
17 | g.39727823G>C | CA399313478 | ERBB2 | c.3547G>C (p.Asp1183His) c.3457G>C (p.Asp1153His) c.2719G>C (p.Asp907His) c.3502G>C (p.Asp1168His) c.*3337G>C (n.*3337G>C) c.*126G>C (n.*126G>C) n.3871G>C c.3685G>C (p.Asp1229His) c.3640G>C (p.Asp1214His) c.3595G>C (p.Asp1199His) c.3664G>C (p.Asp1222His) c.3649G>C (p.Asp1217His) c.3628G>C (p.Asp1210His) c.3622G>C (p.Asp1208His) c.3577G>C (p.Asp1193His) c.3568G>C (p.Asp1190His) c.3544G>C (p.Asp1182His) c.3538G>C (p.Asp1180His) c.3511G>C (p.Asp1171His) c.3505G>C (p.Asp1169His) c.3499G>C (p.Asp1167His) c.3460G>C (p.Asp1154His) c.3448G>C (p.Asp1150His) c.3391G>C (p.Asp1131His) c.3367G>C (p.Asp1123His) c.3361G>C (p.Asp1121His) c.3343G>C (p.Asp1115His) c.3289G>C (p.Asp1097His) c.2596G>C (p.Asp866His) c.2509G>C (p.Asp837His) n.3785G>C | dbSNP |
17 | g.39727823G>T | CA399313480 | ERBB2 | c.3547G>T (p.Asp1183Tyr) c.3457G>T (p.Asp1153Tyr) c.2719G>T (p.Asp907Tyr) c.3502G>T (p.Asp1168Tyr) c.*3337G>T (n.*3337G>T) c.*126G>T (n.*126G>T) n.3871G>T c.3685G>T (p.Asp1229Tyr) c.3640G>T (p.Asp1214Tyr) c.3595G>T (p.Asp1199Tyr) c.3664G>T (p.Asp1222Tyr) c.3649G>T (p.Asp1217Tyr) c.3628G>T (p.Asp1210Tyr) c.3622G>T (p.Asp1208Tyr) c.3577G>T (p.Asp1193Tyr) c.3568G>T (p.Asp1190Tyr) c.3544G>T (p.Asp1182Tyr) c.3538G>T (p.Asp1180Tyr) c.3511G>T (p.Asp1171Tyr) c.3505G>T (p.Asp1169Tyr) c.3499G>T (p.Asp1167Tyr) c.3460G>T (p.Asp1154Tyr) c.3448G>T (p.Asp1150Tyr) c.3391G>T (p.Asp1131Tyr) c.3367G>T (p.Asp1123Tyr) c.3361G>T (p.Asp1121Tyr) c.3343G>T (p.Asp1115Tyr) c.3289G>T (p.Asp1097Tyr) c.2596G>T (p.Asp866Tyr) c.2509G>T (p.Asp837Tyr) n.3785G>T | dbSNP |
17 | g.39727824A>C | CA399313485 | ERBB2 | c.3548A>C (p.Asp1183Ala) c.3458A>C (p.Asp1153Ala) c.2720A>C (p.Asp907Ala) c.3503A>C (p.Asp1168Ala) c.*3338A>C (n.*3338A>C) c.*127A>C (n.*127A>C) n.3872A>C c.3686A>C (p.Asp1229Ala) c.3641A>C (p.Asp1214Ala) c.3596A>C (p.Asp1199Ala) c.3665A>C (p.Asp1222Ala) c.3650A>C (p.Asp1217Ala) c.3629A>C (p.Asp1210Ala) c.3623A>C (p.Asp1208Ala) c.3578A>C (p.Asp1193Ala) c.3569A>C (p.Asp1190Ala) c.3545A>C (p.Asp1182Ala) c.3539A>C (p.Asp1180Ala) c.3512A>C (p.Asp1171Ala) c.3506A>C (p.Asp1169Ala) c.3500A>C (p.Asp1167Ala) c.3461A>C (p.Asp1154Ala) c.3449A>C (p.Asp1150Ala) c.3392A>C (p.Asp1131Ala) c.3368A>C (p.Asp1123Ala) c.3362A>C (p.Asp1121Ala) c.3344A>C (p.Asp1115Ala) c.3290A>C (p.Asp1097Ala) c.2597A>C (p.Asp866Ala) c.2510A>C (p.Asp837Ala) n.3786A>C | dbSNP |
17 | g.39727824A>G | CA399313487 | ERBB2 | c.3548A>G (p.Asp1183Gly) c.3458A>G (p.Asp1153Gly) c.2720A>G (p.Asp907Gly) c.3503A>G (p.Asp1168Gly) c.*3338A>G (n.*3338A>G) c.*127A>G (n.*127A>G) n.3872A>G c.3686A>G (p.Asp1229Gly) c.3641A>G (p.Asp1214Gly) c.3596A>G (p.Asp1199Gly) c.3665A>G (p.Asp1222Gly) c.3650A>G (p.Asp1217Gly) c.3629A>G (p.Asp1210Gly) c.3623A>G (p.Asp1208Gly) c.3578A>G (p.Asp1193Gly) c.3569A>G (p.Asp1190Gly) c.3545A>G (p.Asp1182Gly) c.3539A>G (p.Asp1180Gly) c.3512A>G (p.Asp1171Gly) c.3506A>G (p.Asp1169Gly) c.3500A>G (p.Asp1167Gly) c.3461A>G (p.Asp1154Gly) c.3449A>G (p.Asp1150Gly) c.3392A>G (p.Asp1131Gly) c.3368A>G (p.Asp1123Gly) c.3362A>G (p.Asp1121Gly) c.3344A>G (p.Asp1115Gly) c.3290A>G (p.Asp1097Gly) c.2597A>G (p.Asp866Gly) c.2510A>G (p.Asp837Gly) n.3786A>G | dbSNP |
17 | g.39727824A>T | CA399313490 | ERBB2 | c.3548A>T (p.Asp1183Val) c.3458A>T (p.Asp1153Val) c.2720A>T (p.Asp907Val) c.3503A>T (p.Asp1168Val) c.*3338A>T (n.*3338A>T) c.*127A>T (n.*127A>T) n.3872A>T c.3686A>T (p.Asp1229Val) c.3641A>T (p.Asp1214Val) c.3596A>T (p.Asp1199Val) c.3665A>T (p.Asp1222Val) c.3650A>T (p.Asp1217Val) c.3629A>T (p.Asp1210Val) c.3623A>T (p.Asp1208Val) c.3578A>T (p.Asp1193Val) c.3569A>T (p.Asp1190Val) c.3545A>T (p.Asp1182Val) c.3539A>T (p.Asp1180Val) c.3512A>T (p.Asp1171Val) c.3506A>T (p.Asp1169Val) c.3500A>T (p.Asp1167Val) c.3461A>T (p.Asp1154Val) c.3449A>T (p.Asp1150Val) c.3392A>T (p.Asp1131Val) c.3368A>T (p.Asp1123Val) c.3362A>T (p.Asp1121Val) c.3344A>T (p.Asp1115Val) c.3290A>T (p.Asp1097Val) c.2597A>T (p.Asp866Val) c.2510A>T (p.Asp837Val) n.3786A>T | dbSNP |
17 | g.39727825C>A | CA399313494 | ERBB2 | c.3549C>A (p.Asp1183Glu) c.3459C>A (p.Asp1153Glu) c.2721C>A (p.Asp907Glu) c.3504C>A (p.Asp1168Glu) c.*3339C>A (n.*3339C>A) c.*128C>A (n.*128C>A) n.3873C>A c.3687C>A (p.Asp1229Glu) c.3642C>A (p.Asp1214Glu) c.3597C>A (p.Asp1199Glu) c.3666C>A (p.Asp1222Glu) c.3651C>A (p.Asp1217Glu) c.3630C>A (p.Asp1210Glu) c.3624C>A (p.Asp1208Glu) c.3579C>A (p.Asp1193Glu) c.3570C>A (p.Asp1190Glu) c.3546C>A (p.Asp1182Glu) c.3540C>A (p.Asp1180Glu) c.3513C>A (p.Asp1171Glu) c.3507C>A (p.Asp1169Glu) c.3501C>A (p.Asp1167Glu) c.3462C>A (p.Asp1154Glu) c.3450C>A (p.Asp1150Glu) c.3393C>A (p.Asp1131Glu) c.3369C>A (p.Asp1123Glu) c.3363C>A (p.Asp1121Glu) c.3345C>A (p.Asp1115Glu) c.3291C>A (p.Asp1097Glu) c.2598C>A (p.Asp866Glu) c.2511C>A (p.Asp837Glu) n.3787C>A | dbSNP |
17 | g.39727825C= | CA2259229279 | ERBB2 | c.3549C= (p.Asp1183=) c.3459C= (p.Asp1153=) c.2721C= (p.Asp907=) c.3504C= (p.Asp1168=) c.*3339C= (n.*3339C=) c.*128C= (n.*128C=) n.3873C= c.3687C= (p.Asp1229=) c.3642C= (p.Asp1214=) c.3597C= (p.Asp1199=) c.3666C= (p.Asp1222=) c.3651C= (p.Asp1217=) c.3630C= (p.Asp1210=) c.3624C= (p.Asp1208=) c.3579C= (p.Asp1193=) c.3570C= (p.Asp1190=) c.3546C= (p.Asp1182=) c.3540C= (p.Asp1180=) c.3513C= (p.Asp1171=) c.3507C= (p.Asp1169=) c.3501C= (p.Asp1167=) c.3462C= (p.Asp1154=) c.3450C= (p.Asp1150=) c.3393C= (p.Asp1131=) c.3369C= (p.Asp1123=) c.3363C= (p.Asp1121=) c.3345C= (p.Asp1115=) c.3291C= (p.Asp1097=) c.2598C= (p.Asp866=) c.2511C= (p.Asp837=) n.3787C= | |
17 | g.39727825C>G | CA399313502 | ERBB2 | c.3549C>G (p.Asp1183Glu) c.3459C>G (p.Asp1153Glu) c.2721C>G (p.Asp907Glu) c.3504C>G (p.Asp1168Glu) c.*3339C>G (n.*3339C>G) c.*128C>G (n.*128C>G) n.3873C>G c.3687C>G (p.Asp1229Glu) c.3642C>G (p.Asp1214Glu) c.3597C>G (p.Asp1199Glu) c.3666C>G (p.Asp1222Glu) c.3651C>G (p.Asp1217Glu) c.3630C>G (p.Asp1210Glu) c.3624C>G (p.Asp1208Glu) c.3579C>G (p.Asp1193Glu) c.3570C>G (p.Asp1190Glu) c.3546C>G (p.Asp1182Glu) c.3540C>G (p.Asp1180Glu) c.3513C>G (p.Asp1171Glu) c.3507C>G (p.Asp1169Glu) c.3501C>G (p.Asp1167Glu) c.3462C>G (p.Asp1154Glu) c.3450C>G (p.Asp1150Glu) c.3393C>G (p.Asp1131Glu) c.3369C>G (p.Asp1123Glu) c.3363C>G (p.Asp1121Glu) c.3345C>G (p.Asp1115Glu) c.3291C>G (p.Asp1097Glu) c.2598C>G (p.Asp866Glu) c.2511C>G (p.Asp837Glu) n.3787C>G | dbSNP |
17 | g.39727825C>T | CA8534584 | ERBB2 | c.3549C>T (p.Asp1183=) c.3459C>T (p.Asp1153=) c.2721C>T (p.Asp907=) c.3504C>T (p.Asp1168=) c.*3339C>T (n.*3339C>T) c.*128C>T (n.*128C>T) n.3873C>T c.3687C>T (p.Asp1229=) c.3642C>T (p.Asp1214=) c.3597C>T (p.Asp1199=) c.3666C>T (p.Asp1222=) c.3651C>T (p.Asp1217=) c.3630C>T (p.Asp1210=) c.3624C>T (p.Asp1208=) c.3579C>T (p.Asp1193=) c.3570C>T (p.Asp1190=) c.3546C>T (p.Asp1182=) c.3540C>T (p.Asp1180=) c.3513C>T (p.Asp1171=) c.3507C>T (p.Asp1169=) c.3501C>T (p.Asp1167=) c.3462C>T (p.Asp1154=) c.3450C>T (p.Asp1150=) c.3393C>T (p.Asp1131=) c.3369C>T (p.Asp1123=) c.3363C>T (p.Asp1121=) c.3345C>T (p.Asp1115=) c.3291C>T (p.Asp1097=) c.2598C>T (p.Asp866=) c.2511C>T (p.Asp837=) n.3787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727826G>A | CA8534585 | ERBB2 | c.3550G>A (p.Val1184Ile) c.3460G>A (p.Val1154Ile) c.2722G>A (p.Val908Ile) c.3505G>A (p.Val1169Ile) c.*3340G>A (n.*3340G>A) c.*129G>A (n.*129G>A) n.3874G>A c.3688G>A (p.Val1230Ile) c.3643G>A (p.Val1215Ile) c.3598G>A (p.Val1200Ile) c.3667G>A (p.Val1223Ile) c.3652G>A (p.Val1218Ile) c.3631G>A (p.Val1211Ile) c.3625G>A (p.Val1209Ile) c.3580G>A (p.Val1194Ile) c.3571G>A (p.Val1191Ile) c.3547G>A (p.Val1183Ile) c.3541G>A (p.Val1181Ile) c.3514G>A (p.Val1172Ile) c.3508G>A (p.Val1170Ile) c.3502G>A (p.Val1168Ile) c.3463G>A (p.Val1155Ile) c.3451G>A (p.Val1151Ile) c.3394G>A (p.Val1132Ile) c.3370G>A (p.Val1124Ile) c.3364G>A (p.Val1122Ile) c.3346G>A (p.Val1116Ile) c.3292G>A (p.Val1098Ile) c.2599G>A (p.Val867Ile) c.2512G>A (p.Val838Ile) n.3788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727826G>C | CA399313508 | ERBB2 | c.3550G>C (p.Val1184Leu) c.3460G>C (p.Val1154Leu) c.2722G>C (p.Val908Leu) c.3505G>C (p.Val1169Leu) c.*3340G>C (n.*3340G>C) c.*129G>C (n.*129G>C) n.3874G>C c.3688G>C (p.Val1230Leu) c.3643G>C (p.Val1215Leu) c.3598G>C (p.Val1200Leu) c.3667G>C (p.Val1223Leu) c.3652G>C (p.Val1218Leu) c.3631G>C (p.Val1211Leu) c.3625G>C (p.Val1209Leu) c.3580G>C (p.Val1194Leu) c.3571G>C (p.Val1191Leu) c.3547G>C (p.Val1183Leu) c.3541G>C (p.Val1181Leu) c.3514G>C (p.Val1172Leu) c.3508G>C (p.Val1170Leu) c.3502G>C (p.Val1168Leu) c.3463G>C (p.Val1155Leu) c.3451G>C (p.Val1151Leu) c.3394G>C (p.Val1132Leu) c.3370G>C (p.Val1124Leu) c.3364G>C (p.Val1122Leu) c.3346G>C (p.Val1116Leu) c.3292G>C (p.Val1098Leu) c.2599G>C (p.Val867Leu) c.2512G>C (p.Val838Leu) n.3788G>C | dbSNP |
17 | g.39727826G= | CA2259229280 | ERBB2 | c.3550G= (p.Val1184=) c.3460G= (p.Val1154=) c.2722G= (p.Val908=) c.3505G= (p.Val1169=) c.*3340G= (n.*3340G=) c.*129G= (n.*129G=) n.3874G= c.3688G= (p.Val1230=) c.3643G= (p.Val1215=) c.3598G= (p.Val1200=) c.3667G= (p.Val1223=) c.3652G= (p.Val1218=) c.3631G= (p.Val1211=) c.3625G= (p.Val1209=) c.3580G= (p.Val1194=) c.3571G= (p.Val1191=) c.3547G= (p.Val1183=) c.3541G= (p.Val1181=) c.3514G= (p.Val1172=) c.3508G= (p.Val1170=) c.3502G= (p.Val1168=) c.3463G= (p.Val1155=) c.3451G= (p.Val1151=) c.3394G= (p.Val1132=) c.3370G= (p.Val1124=) c.3364G= (p.Val1122=) c.3346G= (p.Val1116=) c.3292G= (p.Val1098=) c.2599G= (p.Val867=) c.2512G= (p.Val838=) n.3788G= | |
17 | g.39727826G>T | CA399313510 | ERBB2 | c.3550G>T (p.Val1184Phe) c.3460G>T (p.Val1154Phe) c.2722G>T (p.Val908Phe) c.3505G>T (p.Val1169Phe) c.*3340G>T (n.*3340G>T) c.*129G>T (n.*129G>T) n.3874G>T c.3688G>T (p.Val1230Phe) c.3643G>T (p.Val1215Phe) c.3598G>T (p.Val1200Phe) c.3667G>T (p.Val1223Phe) c.3652G>T (p.Val1218Phe) c.3631G>T (p.Val1211Phe) c.3625G>T (p.Val1209Phe) c.3580G>T (p.Val1194Phe) c.3571G>T (p.Val1191Phe) c.3547G>T (p.Val1183Phe) c.3541G>T (p.Val1181Phe) c.3514G>T (p.Val1172Phe) c.3508G>T (p.Val1170Phe) c.3502G>T (p.Val1168Phe) c.3463G>T (p.Val1155Phe) c.3451G>T (p.Val1151Phe) c.3394G>T (p.Val1132Phe) c.3370G>T (p.Val1124Phe) c.3364G>T (p.Val1122Phe) c.3346G>T (p.Val1116Phe) c.3292G>T (p.Val1098Phe) c.2599G>T (p.Val867Phe) c.2512G>T (p.Val838Phe) n.3788G>T | gnomAD v4 |
17 | g.39727827T>A | CA399313515 | ERBB2 | c.3551T>A (p.Val1184Asp) c.3461T>A (p.Val1154Asp) c.2723T>A (p.Val908Asp) c.3506T>A (p.Val1169Asp) c.*3341T>A (n.*3341T>A) c.*130T>A (n.*130T>A) n.3875T>A c.3689T>A (p.Val1230Asp) c.3644T>A (p.Val1215Asp) c.3599T>A (p.Val1200Asp) c.3668T>A (p.Val1223Asp) c.3653T>A (p.Val1218Asp) c.3632T>A (p.Val1211Asp) c.3626T>A (p.Val1209Asp) c.3581T>A (p.Val1194Asp) c.3572T>A (p.Val1191Asp) c.3548T>A (p.Val1183Asp) c.3542T>A (p.Val1181Asp) c.3515T>A (p.Val1172Asp) c.3509T>A (p.Val1170Asp) c.3503T>A (p.Val1168Asp) c.3464T>A (p.Val1155Asp) c.3452T>A (p.Val1151Asp) c.3395T>A (p.Val1132Asp) c.3371T>A (p.Val1124Asp) c.3365T>A (p.Val1122Asp) c.3347T>A (p.Val1116Asp) c.3293T>A (p.Val1098Asp) c.2600T>A (p.Val867Asp) c.2513T>A (p.Val838Asp) n.3789T>A | dbSNP |
17 | g.39727827T>C | CA399313518 | ERBB2 | c.3551T>C (p.Val1184Ala) c.3461T>C (p.Val1154Ala) c.2723T>C (p.Val908Ala) c.3506T>C (p.Val1169Ala) c.*3341T>C (n.*3341T>C) c.*130T>C (n.*130T>C) n.3875T>C c.3689T>C (p.Val1230Ala) c.3644T>C (p.Val1215Ala) c.3599T>C (p.Val1200Ala) c.3668T>C (p.Val1223Ala) c.3653T>C (p.Val1218Ala) c.3632T>C (p.Val1211Ala) c.3626T>C (p.Val1209Ala) c.3581T>C (p.Val1194Ala) c.3572T>C (p.Val1191Ala) c.3548T>C (p.Val1183Ala) c.3542T>C (p.Val1181Ala) c.3515T>C (p.Val1172Ala) c.3509T>C (p.Val1170Ala) c.3503T>C (p.Val1168Ala) c.3464T>C (p.Val1155Ala) c.3452T>C (p.Val1151Ala) c.3395T>C (p.Val1132Ala) c.3371T>C (p.Val1124Ala) c.3365T>C (p.Val1122Ala) c.3347T>C (p.Val1116Ala) c.3293T>C (p.Val1098Ala) c.2600T>C (p.Val867Ala) c.2513T>C (p.Val838Ala) n.3789T>C | dbSNP |
17 | g.39727827T>G | CA399313521 | ERBB2 | c.3551T>G (p.Val1184Gly) c.3461T>G (p.Val1154Gly) c.2723T>G (p.Val908Gly) c.3506T>G (p.Val1169Gly) c.*3341T>G (n.*3341T>G) c.*130T>G (n.*130T>G) n.3875T>G c.3689T>G (p.Val1230Gly) c.3644T>G (p.Val1215Gly) c.3599T>G (p.Val1200Gly) c.3668T>G (p.Val1223Gly) c.3653T>G (p.Val1218Gly) c.3632T>G (p.Val1211Gly) c.3626T>G (p.Val1209Gly) c.3581T>G (p.Val1194Gly) c.3572T>G (p.Val1191Gly) c.3548T>G (p.Val1183Gly) c.3542T>G (p.Val1181Gly) c.3515T>G (p.Val1172Gly) c.3509T>G (p.Val1170Gly) c.3503T>G (p.Val1168Gly) c.3464T>G (p.Val1155Gly) c.3452T>G (p.Val1151Gly) c.3395T>G (p.Val1132Gly) c.3371T>G (p.Val1124Gly) c.3365T>G (p.Val1122Gly) c.3347T>G (p.Val1116Gly) c.3293T>G (p.Val1098Gly) c.2600T>G (p.Val867Gly) c.2513T>G (p.Val838Gly) n.3789T>G | dbSNP |