Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39727854A>C | CA399313723 | ERBB2 | c.3578A>C (p.Asn1193Thr) c.3488A>C (p.Asn1163Thr) c.2750A>C (p.Asn917Thr) c.3533A>C (p.Asn1178Thr) c.*3368A>C (n.*3368A>C) c.*157A>C (n.*157A>C) n.3902A>C c.3716A>C (p.Asn1239Thr) c.3671A>C (p.Asn1224Thr) c.3626A>C (p.Asn1209Thr) c.3695A>C (p.Asn1232Thr) c.3680A>C (p.Asn1227Thr) c.3659A>C (p.Asn1220Thr) c.3653A>C (p.Asn1218Thr) c.3608A>C (p.Asn1203Thr) c.3599A>C (p.Asn1200Thr) c.3575A>C (p.Asn1192Thr) c.3569A>C (p.Asn1190Thr) c.3542A>C (p.Asn1181Thr) c.3536A>C (p.Asn1179Thr) c.3530A>C (p.Asn1177Thr) c.3491A>C (p.Asn1164Thr) c.3479A>C (p.Asn1160Thr) c.3422A>C (p.Asn1141Thr) c.3398A>C (p.Asn1133Thr) c.3392A>C (p.Asn1131Thr) c.3374A>C (p.Asn1125Thr) c.3320A>C (p.Asn1107Thr) c.2627A>C (p.Asn876Thr) c.2540A>C (p.Asn847Thr) n.3816A>C | dbSNP |
17 | g.39727854A>G | CA399313724 | ERBB2 | c.3578A>G (p.Asn1193Ser) c.3488A>G (p.Asn1163Ser) c.2750A>G (p.Asn917Ser) c.3533A>G (p.Asn1178Ser) c.*3368A>G (n.*3368A>G) c.*157A>G (n.*157A>G) n.3902A>G c.3716A>G (p.Asn1239Ser) c.3671A>G (p.Asn1224Ser) c.3626A>G (p.Asn1209Ser) c.3695A>G (p.Asn1232Ser) c.3680A>G (p.Asn1227Ser) c.3659A>G (p.Asn1220Ser) c.3653A>G (p.Asn1218Ser) c.3608A>G (p.Asn1203Ser) c.3599A>G (p.Asn1200Ser) c.3575A>G (p.Asn1192Ser) c.3569A>G (p.Asn1190Ser) c.3542A>G (p.Asn1181Ser) c.3536A>G (p.Asn1179Ser) c.3530A>G (p.Asn1177Ser) c.3491A>G (p.Asn1164Ser) c.3479A>G (p.Asn1160Ser) c.3422A>G (p.Asn1141Ser) c.3398A>G (p.Asn1133Ser) c.3392A>G (p.Asn1131Ser) c.3374A>G (p.Asn1125Ser) c.3320A>G (p.Asn1107Ser) c.2627A>G (p.Asn876Ser) c.2540A>G (p.Asn847Ser) n.3816A>G | dbSNP |
17 | g.39727854A>T | CA399313727 | ERBB2 | c.3578A>T (p.Asn1193Ile) c.3488A>T (p.Asn1163Ile) c.2750A>T (p.Asn917Ile) c.3533A>T (p.Asn1178Ile) c.*3368A>T (n.*3368A>T) c.*157A>T (n.*157A>T) n.3902A>T c.3716A>T (p.Asn1239Ile) c.3671A>T (p.Asn1224Ile) c.3626A>T (p.Asn1209Ile) c.3695A>T (p.Asn1232Ile) c.3680A>T (p.Asn1227Ile) c.3659A>T (p.Asn1220Ile) c.3653A>T (p.Asn1218Ile) c.3608A>T (p.Asn1203Ile) c.3599A>T (p.Asn1200Ile) c.3575A>T (p.Asn1192Ile) c.3569A>T (p.Asn1190Ile) c.3542A>T (p.Asn1181Ile) c.3536A>T (p.Asn1179Ile) c.3530A>T (p.Asn1177Ile) c.3491A>T (p.Asn1164Ile) c.3479A>T (p.Asn1160Ile) c.3422A>T (p.Asn1141Ile) c.3398A>T (p.Asn1133Ile) c.3392A>T (p.Asn1131Ile) c.3374A>T (p.Asn1125Ile) c.3320A>T (p.Asn1107Ile) c.2627A>T (p.Asn876Ile) c.2540A>T (p.Asn847Ile) n.3816A>T | dbSNP |
17 | g.39727854_39727855delinsAC | CA2259229294 | ERBB2 | c.3578_3579delinsAC (p.Asn1193=) c.3488_3489delinsAC (p.Asn1163=) c.2750_2751delinsAC (p.Asn917=) c.3533_3534delinsAC (p.Asn1178=) c.*3368_*3369delinsAC (n.*3368_*3369delinsAC) c.*157_*158delinsAC (n.*157_*158delinsAC) n.3902_3903delinsAC c.3716_3717delinsAC (p.Asn1239=) c.3671_3672delinsAC (p.Asn1224=) c.3626_3627delinsAC (p.Asn1209=) c.3695_3696delinsAC (p.Asn1232=) c.3680_3681delinsAC (p.Asn1227=) c.3659_3660delinsAC (p.Asn1220=) c.3653_3654delinsAC (p.Asn1218=) c.3608_3609delinsAC (p.Asn1203=) c.3599_3600delinsAC (p.Asn1200=) c.3575_3576delinsAC (p.Asn1192=) c.3569_3570delinsAC (p.Asn1190=) c.3542_3543delinsAC (p.Asn1181=) c.3536_3537delinsAC (p.Asn1179=) c.3530_3531delinsAC (p.Asn1177=) c.3491_3492delinsAC (p.Asn1164=) c.3479_3480delinsAC (p.Asn1160=) c.3422_3423delinsAC (p.Asn1141=) c.3398_3399delinsAC (p.Asn1133=) c.3392_3393delinsAC (p.Asn1131=) c.3374_3375delinsAC (p.Asn1125=) c.3320_3321delinsAC (p.Asn1107=) c.2627_2628delinsAC (p.Asn876=) c.2540_2541delinsAC (p.Asn847=) n.3816_3817delinsAC | |
17 | g.39727855C>A | CA399313729 | ERBB2 | c.3579C>A (p.Asn1193Lys) c.3489C>A (p.Asn1163Lys) c.2751C>A (p.Asn917Lys) c.3534C>A (p.Asn1178Lys) c.*3369C>A (n.*3369C>A) c.*158C>A (n.*158C>A) n.3903C>A c.3717C>A (p.Asn1239Lys) c.3672C>A (p.Asn1224Lys) c.3627C>A (p.Asn1209Lys) c.3696C>A (p.Asn1232Lys) c.3681C>A (p.Asn1227Lys) c.3660C>A (p.Asn1220Lys) c.3654C>A (p.Asn1218Lys) c.3609C>A (p.Asn1203Lys) c.3600C>A (p.Asn1200Lys) c.3576C>A (p.Asn1192Lys) c.3570C>A (p.Asn1190Lys) c.3543C>A (p.Asn1181Lys) c.3537C>A (p.Asn1179Lys) c.3531C>A (p.Asn1177Lys) c.3492C>A (p.Asn1164Lys) c.3480C>A (p.Asn1160Lys) c.3423C>A (p.Asn1141Lys) c.3399C>A (p.Asn1133Lys) c.3393C>A (p.Asn1131Lys) c.3375C>A (p.Asn1125Lys) c.3321C>A (p.Asn1107Lys) c.2628C>A (p.Asn876Lys) c.2541C>A (p.Asn847Lys) n.3817C>A | dbSNP |
17 | g.39727855C>G | CA399313732 | ERBB2 | c.3579C>G (p.Asn1193Lys) c.3489C>G (p.Asn1163Lys) c.2751C>G (p.Asn917Lys) c.3534C>G (p.Asn1178Lys) c.*3369C>G (n.*3369C>G) c.*158C>G (n.*158C>G) n.3903C>G c.3717C>G (p.Asn1239Lys) c.3672C>G (p.Asn1224Lys) c.3627C>G (p.Asn1209Lys) c.3696C>G (p.Asn1232Lys) c.3681C>G (p.Asn1227Lys) c.3660C>G (p.Asn1220Lys) c.3654C>G (p.Asn1218Lys) c.3609C>G (p.Asn1203Lys) c.3600C>G (p.Asn1200Lys) c.3576C>G (p.Asn1192Lys) c.3570C>G (p.Asn1190Lys) c.3543C>G (p.Asn1181Lys) c.3537C>G (p.Asn1179Lys) c.3531C>G (p.Asn1177Lys) c.3492C>G (p.Asn1164Lys) c.3480C>G (p.Asn1160Lys) c.3423C>G (p.Asn1141Lys) c.3399C>G (p.Asn1133Lys) c.3393C>G (p.Asn1131Lys) c.3375C>G (p.Asn1125Lys) c.3321C>G (p.Asn1107Lys) c.2628C>G (p.Asn876Lys) c.2541C>G (p.Asn847Lys) n.3817C>G | dbSNP |
17 | g.39727855C>T | CA499890760 | ERBB2 | c.3579C>T (p.Asn1193=) c.3489C>T (p.Asn1163=) c.2751C>T (p.Asn917=) c.3534C>T (p.Asn1178=) c.*3369C>T (n.*3369C>T) c.*158C>T (n.*158C>T) n.3903C>T c.3717C>T (p.Asn1239=) c.3672C>T (p.Asn1224=) c.3627C>T (p.Asn1209=) c.3696C>T (p.Asn1232=) c.3681C>T (p.Asn1227=) c.3660C>T (p.Asn1220=) c.3654C>T (p.Asn1218=) c.3609C>T (p.Asn1203=) c.3600C>T (p.Asn1200=) c.3576C>T (p.Asn1192=) c.3570C>T (p.Asn1190=) c.3543C>T (p.Asn1181=) c.3537C>T (p.Asn1179=) c.3531C>T (p.Asn1177=) c.3492C>T (p.Asn1164=) c.3480C>T (p.Asn1160=) c.3423C>T (p.Asn1141=) c.3399C>T (p.Asn1133=) c.3393C>T (p.Asn1131=) c.3375C>T (p.Asn1125=) c.3321C>T (p.Asn1107=) c.2628C>T (p.Asn876=) c.2541C>T (p.Asn847=) n.3817C>T | dbSNP gnomAD v4 |
17 | g.39727858del | CA771864413 | ERBB2 | c.3582del (p.Glu1195SerfsTer3) c.3492del (p.Glu1165SerfsTer3) c.2754del (p.Glu919SerfsTer3) c.3537del (p.Glu1180SerfsTer3) c.*3372del (n.*3372del) c.*161del (n.*161del) n.3906del c.3720del (p.Glu1241SerfsTer3) c.3675del (p.Glu1226SerfsTer3) c.3630del (p.Glu1211SerfsTer3) c.3699del (p.Glu1234SerfsTer3) c.3684del (p.Glu1229SerfsTer3) c.3663del (p.Glu1222SerfsTer3) c.3657del (p.Glu1220SerfsTer3) c.3612del (p.Glu1205SerfsTer3) c.3603del (p.Glu1202SerfsTer3) c.3579del (p.Glu1194SerfsTer3) c.3573del (p.Glu1192SerfsTer3) c.3546del (p.Glu1183SerfsTer3) c.3540del (p.Glu1181SerfsTer3) c.3534del (p.Glu1179SerfsTer3) c.3495del (p.Glu1166SerfsTer3) c.3483del (p.Glu1162SerfsTer3) c.3426del (p.Glu1143SerfsTer3) c.3402del (p.Glu1135SerfsTer3) c.3396del (p.Glu1133SerfsTer3) c.3378del (p.Glu1127SerfsTer3) c.3324del (p.Glu1109SerfsTer3) c.2631del (p.Glu878SerfsTer3) c.2544del (p.Glu849SerfsTer3) n.3820del | dbSNP |
17 | g.39727856C>A | CA399313735 | ERBB2 | c.3580C>A (p.Pro1194Thr) c.3490C>A (p.Pro1164Thr) c.2752C>A (p.Pro918Thr) c.3535C>A (p.Pro1179Thr) c.*3370C>A (n.*3370C>A) c.*159C>A (n.*159C>A) n.3904C>A c.3718C>A (p.Pro1240Thr) c.3673C>A (p.Pro1225Thr) c.3628C>A (p.Pro1210Thr) c.3697C>A (p.Pro1233Thr) c.3682C>A (p.Pro1228Thr) c.3661C>A (p.Pro1221Thr) c.3655C>A (p.Pro1219Thr) c.3610C>A (p.Pro1204Thr) c.3601C>A (p.Pro1201Thr) c.3577C>A (p.Pro1193Thr) c.3571C>A (p.Pro1191Thr) c.3544C>A (p.Pro1182Thr) c.3538C>A (p.Pro1180Thr) c.3532C>A (p.Pro1178Thr) c.3493C>A (p.Pro1165Thr) c.3481C>A (p.Pro1161Thr) c.3424C>A (p.Pro1142Thr) c.3400C>A (p.Pro1134Thr) c.3394C>A (p.Pro1132Thr) c.3376C>A (p.Pro1126Thr) c.3322C>A (p.Pro1108Thr) c.2629C>A (p.Pro877Thr) c.2542C>A (p.Pro848Thr) n.3818C>A | dbSNP |
17 | g.39727856C= | CA2259229295 | ERBB2 | c.3580C= (p.Pro1194=) c.3490C= (p.Pro1164=) c.2752C= (p.Pro918=) c.3535C= (p.Pro1179=) c.*3370C= (n.*3370C=) c.*159C= (n.*159C=) n.3904C= c.3718C= (p.Pro1240=) c.3673C= (p.Pro1225=) c.3628C= (p.Pro1210=) c.3697C= (p.Pro1233=) c.3682C= (p.Pro1228=) c.3661C= (p.Pro1221=) c.3655C= (p.Pro1219=) c.3610C= (p.Pro1204=) c.3601C= (p.Pro1201=) c.3577C= (p.Pro1193=) c.3571C= (p.Pro1191=) c.3544C= (p.Pro1182=) c.3538C= (p.Pro1180=) c.3532C= (p.Pro1178=) c.3493C= (p.Pro1165=) c.3481C= (p.Pro1161=) c.3424C= (p.Pro1142=) c.3400C= (p.Pro1134=) c.3394C= (p.Pro1132=) c.3376C= (p.Pro1126=) c.3322C= (p.Pro1108=) c.2629C= (p.Pro877=) c.2542C= (p.Pro848=) n.3818C= | |
17 | g.39727856C>G | CA399313737 | ERBB2 | c.3580C>G (p.Pro1194Ala) c.3490C>G (p.Pro1164Ala) c.2752C>G (p.Pro918Ala) c.3535C>G (p.Pro1179Ala) c.*3370C>G (n.*3370C>G) c.*159C>G (n.*159C>G) n.3904C>G c.3718C>G (p.Pro1240Ala) c.3673C>G (p.Pro1225Ala) c.3628C>G (p.Pro1210Ala) c.3697C>G (p.Pro1233Ala) c.3682C>G (p.Pro1228Ala) c.3661C>G (p.Pro1221Ala) c.3655C>G (p.Pro1219Ala) c.3610C>G (p.Pro1204Ala) c.3601C>G (p.Pro1201Ala) c.3577C>G (p.Pro1193Ala) c.3571C>G (p.Pro1191Ala) c.3544C>G (p.Pro1182Ala) c.3538C>G (p.Pro1180Ala) c.3532C>G (p.Pro1178Ala) c.3493C>G (p.Pro1165Ala) c.3481C>G (p.Pro1161Ala) c.3424C>G (p.Pro1142Ala) c.3400C>G (p.Pro1134Ala) c.3394C>G (p.Pro1132Ala) c.3376C>G (p.Pro1126Ala) c.3322C>G (p.Pro1108Ala) c.2629C>G (p.Pro877Ala) c.2542C>G (p.Pro848Ala) n.3818C>G | dbSNP |
17 | g.39727856C>T | CA399313739 | ERBB2 | c.3580C>T (p.Pro1194Ser) c.3490C>T (p.Pro1164Ser) c.2752C>T (p.Pro918Ser) c.3535C>T (p.Pro1179Ser) c.*3370C>T (n.*3370C>T) c.*159C>T (n.*159C>T) n.3904C>T c.3718C>T (p.Pro1240Ser) c.3673C>T (p.Pro1225Ser) c.3628C>T (p.Pro1210Ser) c.3697C>T (p.Pro1233Ser) c.3682C>T (p.Pro1228Ser) c.3661C>T (p.Pro1221Ser) c.3655C>T (p.Pro1219Ser) c.3610C>T (p.Pro1204Ser) c.3601C>T (p.Pro1201Ser) c.3577C>T (p.Pro1193Ser) c.3571C>T (p.Pro1191Ser) c.3544C>T (p.Pro1182Ser) c.3538C>T (p.Pro1180Ser) c.3532C>T (p.Pro1178Ser) c.3493C>T (p.Pro1165Ser) c.3481C>T (p.Pro1161Ser) c.3424C>T (p.Pro1142Ser) c.3400C>T (p.Pro1134Ser) c.3394C>T (p.Pro1132Ser) c.3376C>T (p.Pro1126Ser) c.3322C>T (p.Pro1108Ser) c.2629C>T (p.Pro877Ser) c.2542C>T (p.Pro848Ser) n.3818C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727857C>A | CA399313747 | ERBB2 | c.3581C>A (p.Pro1194His) c.3491C>A (p.Pro1164His) c.2753C>A (p.Pro918His) c.3536C>A (p.Pro1179His) c.*3371C>A (n.*3371C>A) c.*160C>A (n.*160C>A) n.3905C>A c.3719C>A (p.Pro1240His) c.3674C>A (p.Pro1225His) c.3629C>A (p.Pro1210His) c.3698C>A (p.Pro1233His) c.3683C>A (p.Pro1228His) c.3662C>A (p.Pro1221His) c.3656C>A (p.Pro1219His) c.3611C>A (p.Pro1204His) c.3602C>A (p.Pro1201His) c.3578C>A (p.Pro1193His) c.3572C>A (p.Pro1191His) c.3545C>A (p.Pro1182His) c.3539C>A (p.Pro1180His) c.3533C>A (p.Pro1178His) c.3494C>A (p.Pro1165His) c.3482C>A (p.Pro1161His) c.3425C>A (p.Pro1142His) c.3401C>A (p.Pro1134His) c.3395C>A (p.Pro1132His) c.3377C>A (p.Pro1126His) c.3323C>A (p.Pro1108His) c.2630C>A (p.Pro877His) c.2543C>A (p.Pro848His) n.3819C>A | dbSNP |
17 | g.39727857C>G | CA399313745 | ERBB2 | c.3581C>G (p.Pro1194Arg) c.3491C>G (p.Pro1164Arg) c.2753C>G (p.Pro918Arg) c.3536C>G (p.Pro1179Arg) c.*3371C>G (n.*3371C>G) c.*160C>G (n.*160C>G) n.3905C>G c.3719C>G (p.Pro1240Arg) c.3674C>G (p.Pro1225Arg) c.3629C>G (p.Pro1210Arg) c.3698C>G (p.Pro1233Arg) c.3683C>G (p.Pro1228Arg) c.3662C>G (p.Pro1221Arg) c.3656C>G (p.Pro1219Arg) c.3611C>G (p.Pro1204Arg) c.3602C>G (p.Pro1201Arg) c.3578C>G (p.Pro1193Arg) c.3572C>G (p.Pro1191Arg) c.3545C>G (p.Pro1182Arg) c.3539C>G (p.Pro1180Arg) c.3533C>G (p.Pro1178Arg) c.3494C>G (p.Pro1165Arg) c.3482C>G (p.Pro1161Arg) c.3425C>G (p.Pro1142Arg) c.3401C>G (p.Pro1134Arg) c.3395C>G (p.Pro1132Arg) c.3377C>G (p.Pro1126Arg) c.3323C>G (p.Pro1108Arg) c.2630C>G (p.Pro877Arg) c.2543C>G (p.Pro848Arg) n.3819C>G | dbSNP |
17 | g.39727857C>T | CA399313743 | ERBB2 | c.3581C>T (p.Pro1194Leu) c.3491C>T (p.Pro1164Leu) c.2753C>T (p.Pro918Leu) c.3536C>T (p.Pro1179Leu) c.*3371C>T (n.*3371C>T) c.*160C>T (n.*160C>T) n.3905C>T c.3719C>T (p.Pro1240Leu) c.3674C>T (p.Pro1225Leu) c.3629C>T (p.Pro1210Leu) c.3698C>T (p.Pro1233Leu) c.3683C>T (p.Pro1228Leu) c.3662C>T (p.Pro1221Leu) c.3656C>T (p.Pro1219Leu) c.3611C>T (p.Pro1204Leu) c.3602C>T (p.Pro1201Leu) c.3578C>T (p.Pro1193Leu) c.3572C>T (p.Pro1191Leu) c.3545C>T (p.Pro1182Leu) c.3539C>T (p.Pro1180Leu) c.3533C>T (p.Pro1178Leu) c.3494C>T (p.Pro1165Leu) c.3482C>T (p.Pro1161Leu) c.3425C>T (p.Pro1142Leu) c.3401C>T (p.Pro1134Leu) c.3395C>T (p.Pro1132Leu) c.3377C>T (p.Pro1126Leu) c.3323C>T (p.Pro1108Leu) c.2630C>T (p.Pro877Leu) c.2543C>T (p.Pro848Leu) n.3819C>T | dbSNP |
17 | g.39727858C>A | CA499890761 | ERBB2 | c.3582C>A (p.Pro1194=) c.3492C>A (p.Pro1164=) c.2754C>A (p.Pro918=) c.3537C>A (p.Pro1179=) c.*3372C>A (n.*3372C>A) c.*161C>A (n.*161C>A) n.3906C>A c.3720C>A (p.Pro1240=) c.3675C>A (p.Pro1225=) c.3630C>A (p.Pro1210=) c.3699C>A (p.Pro1233=) c.3684C>A (p.Pro1228=) c.3663C>A (p.Pro1221=) c.3657C>A (p.Pro1219=) c.3612C>A (p.Pro1204=) c.3603C>A (p.Pro1201=) c.3579C>A (p.Pro1193=) c.3573C>A (p.Pro1191=) c.3546C>A (p.Pro1182=) c.3540C>A (p.Pro1180=) c.3534C>A (p.Pro1178=) c.3495C>A (p.Pro1165=) c.3483C>A (p.Pro1161=) c.3426C>A (p.Pro1142=) c.3402C>A (p.Pro1134=) c.3396C>A (p.Pro1132=) c.3378C>A (p.Pro1126=) c.3324C>A (p.Pro1108=) c.2631C>A (p.Pro877=) c.2544C>A (p.Pro848=) n.3820C>A | |
17 | g.39727858C= | CA2259229296 | ERBB2 | c.3582C= (p.Pro1194=) c.3492C= (p.Pro1164=) c.2754C= (p.Pro918=) c.3537C= (p.Pro1179=) c.*3372C= (n.*3372C=) c.*161C= (n.*161C=) n.3906C= c.3720C= (p.Pro1240=) c.3675C= (p.Pro1225=) c.3630C= (p.Pro1210=) c.3699C= (p.Pro1233=) c.3684C= (p.Pro1228=) c.3663C= (p.Pro1221=) c.3657C= (p.Pro1219=) c.3612C= (p.Pro1204=) c.3603C= (p.Pro1201=) c.3579C= (p.Pro1193=) c.3573C= (p.Pro1191=) c.3546C= (p.Pro1182=) c.3540C= (p.Pro1180=) c.3534C= (p.Pro1178=) c.3495C= (p.Pro1165=) c.3483C= (p.Pro1161=) c.3426C= (p.Pro1142=) c.3402C= (p.Pro1134=) c.3396C= (p.Pro1132=) c.3378C= (p.Pro1126=) c.3324C= (p.Pro1108=) c.2631C= (p.Pro877=) c.2544C= (p.Pro848=) n.3820C= | |
17 | g.39727858C>G | CA499890762 | ERBB2 | c.3582C>G (p.Pro1194=) c.3492C>G (p.Pro1164=) c.2754C>G (p.Pro918=) c.3537C>G (p.Pro1179=) c.*3372C>G (n.*3372C>G) c.*161C>G (n.*161C>G) n.3906C>G c.3720C>G (p.Pro1240=) c.3675C>G (p.Pro1225=) c.3630C>G (p.Pro1210=) c.3699C>G (p.Pro1233=) c.3684C>G (p.Pro1228=) c.3663C>G (p.Pro1221=) c.3657C>G (p.Pro1219=) c.3612C>G (p.Pro1204=) c.3603C>G (p.Pro1201=) c.3579C>G (p.Pro1193=) c.3573C>G (p.Pro1191=) c.3546C>G (p.Pro1182=) c.3540C>G (p.Pro1180=) c.3534C>G (p.Pro1178=) c.3495C>G (p.Pro1165=) c.3483C>G (p.Pro1161=) c.3426C>G (p.Pro1142=) c.3402C>G (p.Pro1134=) c.3396C>G (p.Pro1132=) c.3378C>G (p.Pro1126=) c.3324C>G (p.Pro1108=) c.2631C>G (p.Pro877=) c.2544C>G (p.Pro848=) n.3820C>G | dbSNP |
17 | g.39727858C>T | CA8534588 | ERBB2 | c.3582C>T (p.Pro1194=) c.3492C>T (p.Pro1164=) c.2754C>T (p.Pro918=) c.3537C>T (p.Pro1179=) c.*3372C>T (n.*3372C>T) c.*161C>T (n.*161C>T) n.3906C>T c.3720C>T (p.Pro1240=) c.3675C>T (p.Pro1225=) c.3630C>T (p.Pro1210=) c.3699C>T (p.Pro1233=) c.3684C>T (p.Pro1228=) c.3663C>T (p.Pro1221=) c.3657C>T (p.Pro1219=) c.3612C>T (p.Pro1204=) c.3603C>T (p.Pro1201=) c.3579C>T (p.Pro1193=) c.3573C>T (p.Pro1191=) c.3546C>T (p.Pro1182=) c.3540C>T (p.Pro1180=) c.3534C>T (p.Pro1178=) c.3495C>T (p.Pro1165=) c.3483C>T (p.Pro1161=) c.3426C>T (p.Pro1142=) c.3402C>T (p.Pro1134=) c.3396C>T (p.Pro1132=) c.3378C>T (p.Pro1126=) c.3324C>T (p.Pro1108=) c.2631C>T (p.Pro877=) c.2544C>T (p.Pro848=) n.3820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727859G>A | CA290444001 | ERBB2 | c.3583G>A (p.Glu1195Lys) c.3493G>A (p.Glu1165Lys) c.2755G>A (p.Glu919Lys) c.3538G>A (p.Glu1180Lys) c.*3373G>A (n.*3373G>A) c.*162G>A (n.*162G>A) n.3907G>A c.3721G>A (p.Glu1241Lys) c.3676G>A (p.Glu1226Lys) c.3631G>A (p.Glu1211Lys) c.3700G>A (p.Glu1234Lys) c.3685G>A (p.Glu1229Lys) c.3664G>A (p.Glu1222Lys) c.3658G>A (p.Glu1220Lys) c.3613G>A (p.Glu1205Lys) c.3604G>A (p.Glu1202Lys) c.3580G>A (p.Glu1194Lys) c.3574G>A (p.Glu1192Lys) c.3547G>A (p.Glu1183Lys) c.3541G>A (p.Glu1181Lys) c.3535G>A (p.Glu1179Lys) c.3496G>A (p.Glu1166Lys) c.3484G>A (p.Glu1162Lys) c.3427G>A (p.Glu1143Lys) c.3403G>A (p.Glu1135Lys) c.3397G>A (p.Glu1133Lys) c.3379G>A (p.Glu1127Lys) c.3325G>A (p.Glu1109Lys) c.2632G>A (p.Glu878Lys) c.2545G>A (p.Glu849Lys) n.3821G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727859G>C | CA399313766 | ERBB2 | c.3583G>C (p.Glu1195Gln) c.3493G>C (p.Glu1165Gln) c.2755G>C (p.Glu919Gln) c.3538G>C (p.Glu1180Gln) c.*3373G>C (n.*3373G>C) c.*162G>C (n.*162G>C) n.3907G>C c.3721G>C (p.Glu1241Gln) c.3676G>C (p.Glu1226Gln) c.3631G>C (p.Glu1211Gln) c.3700G>C (p.Glu1234Gln) c.3685G>C (p.Glu1229Gln) c.3664G>C (p.Glu1222Gln) c.3658G>C (p.Glu1220Gln) c.3613G>C (p.Glu1205Gln) c.3604G>C (p.Glu1202Gln) c.3580G>C (p.Glu1194Gln) c.3574G>C (p.Glu1192Gln) c.3547G>C (p.Glu1183Gln) c.3541G>C (p.Glu1181Gln) c.3535G>C (p.Glu1179Gln) c.3496G>C (p.Glu1166Gln) c.3484G>C (p.Glu1162Gln) c.3427G>C (p.Glu1143Gln) c.3403G>C (p.Glu1135Gln) c.3397G>C (p.Glu1133Gln) c.3379G>C (p.Glu1127Gln) c.3325G>C (p.Glu1109Gln) c.2632G>C (p.Glu878Gln) c.2545G>C (p.Glu849Gln) n.3821G>C | dbSNP |
17 | g.39727859G= | CA2259229297 | ERBB2 | c.3583G= (p.Glu1195=) c.3493G= (p.Glu1165=) c.2755G= (p.Glu919=) c.3538G= (p.Glu1180=) c.*3373G= (n.*3373G=) c.*162G= (n.*162G=) n.3907G= c.3721G= (p.Glu1241=) c.3676G= (p.Glu1226=) c.3631G= (p.Glu1211=) c.3700G= (p.Glu1234=) c.3685G= (p.Glu1229=) c.3664G= (p.Glu1222=) c.3658G= (p.Glu1220=) c.3613G= (p.Glu1205=) c.3604G= (p.Glu1202=) c.3580G= (p.Glu1194=) c.3574G= (p.Glu1192=) c.3547G= (p.Glu1183=) c.3541G= (p.Glu1181=) c.3535G= (p.Glu1179=) c.3496G= (p.Glu1166=) c.3484G= (p.Glu1162=) c.3427G= (p.Glu1143=) c.3403G= (p.Glu1135=) c.3397G= (p.Glu1133=) c.3379G= (p.Glu1127=) c.3325G= (p.Glu1109=) c.2632G= (p.Glu878=) c.2545G= (p.Glu849=) n.3821G= | |
17 | g.39727859G>T | CA399313764 | ERBB2 | c.3583G>T (p.Glu1195Ter) c.3493G>T (p.Glu1165Ter) c.2755G>T (p.Glu919Ter) c.3538G>T (p.Glu1180Ter) c.*3373G>T (n.*3373G>T) c.*162G>T (n.*162G>T) n.3907G>T c.3721G>T (p.Glu1241Ter) c.3676G>T (p.Glu1226Ter) c.3631G>T (p.Glu1211Ter) c.3700G>T (p.Glu1234Ter) c.3685G>T (p.Glu1229Ter) c.3664G>T (p.Glu1222Ter) c.3658G>T (p.Glu1220Ter) c.3613G>T (p.Glu1205Ter) c.3604G>T (p.Glu1202Ter) c.3580G>T (p.Glu1194Ter) c.3574G>T (p.Glu1192Ter) c.3547G>T (p.Glu1183Ter) c.3541G>T (p.Glu1181Ter) c.3535G>T (p.Glu1179Ter) c.3496G>T (p.Glu1166Ter) c.3484G>T (p.Glu1162Ter) c.3427G>T (p.Glu1143Ter) c.3403G>T (p.Glu1135Ter) c.3397G>T (p.Glu1133Ter) c.3379G>T (p.Glu1127Ter) c.3325G>T (p.Glu1109Ter) c.2632G>T (p.Glu878Ter) c.2545G>T (p.Glu849Ter) n.3821G>T | dbSNP |
17 | g.39727860A= | CA2259229298 | ERBB2 | c.3584A= (p.Glu1195=) c.3494A= (p.Glu1165=) c.2756A= (p.Glu919=) c.3539A= (p.Glu1180=) c.*3374A= (n.*3374A=) c.*163A= (n.*163A=) n.3908A= c.3722A= (p.Glu1241=) c.3677A= (p.Glu1226=) c.3632A= (p.Glu1211=) c.3701A= (p.Glu1234=) c.3686A= (p.Glu1229=) c.3665A= (p.Glu1222=) c.3659A= (p.Glu1220=) c.3614A= (p.Glu1205=) c.3605A= (p.Glu1202=) c.3581A= (p.Glu1194=) c.3575A= (p.Glu1192=) c.3548A= (p.Glu1183=) c.3542A= (p.Glu1181=) c.3536A= (p.Glu1179=) c.3497A= (p.Glu1166=) c.3485A= (p.Glu1162=) c.3428A= (p.Glu1143=) c.3404A= (p.Glu1135=) c.3398A= (p.Glu1133=) c.3380A= (p.Glu1127=) c.3326A= (p.Glu1109=) c.2633A= (p.Glu878=) c.2546A= (p.Glu849=) n.3822A= | |
17 | g.39727860A>C | CA399313770 | ERBB2 | c.3584A>C (p.Glu1195Ala) c.3494A>C (p.Glu1165Ala) c.2756A>C (p.Glu919Ala) c.3539A>C (p.Glu1180Ala) c.*3374A>C (n.*3374A>C) c.*163A>C (n.*163A>C) n.3908A>C c.3722A>C (p.Glu1241Ala) c.3677A>C (p.Glu1226Ala) c.3632A>C (p.Glu1211Ala) c.3701A>C (p.Glu1234Ala) c.3686A>C (p.Glu1229Ala) c.3665A>C (p.Glu1222Ala) c.3659A>C (p.Glu1220Ala) c.3614A>C (p.Glu1205Ala) c.3605A>C (p.Glu1202Ala) c.3581A>C (p.Glu1194Ala) c.3575A>C (p.Glu1192Ala) c.3548A>C (p.Glu1183Ala) c.3542A>C (p.Glu1181Ala) c.3536A>C (p.Glu1179Ala) c.3497A>C (p.Glu1166Ala) c.3485A>C (p.Glu1162Ala) c.3428A>C (p.Glu1143Ala) c.3404A>C (p.Glu1135Ala) c.3398A>C (p.Glu1133Ala) c.3380A>C (p.Glu1127Ala) c.3326A>C (p.Glu1109Ala) c.2633A>C (p.Glu878Ala) c.2546A>C (p.Glu849Ala) n.3822A>C | |
17 | g.39727860A>G | CA399313771 | ERBB2 | c.3584A>G (p.Glu1195Gly) c.3494A>G (p.Glu1165Gly) c.2756A>G (p.Glu919Gly) c.3539A>G (p.Glu1180Gly) c.*3374A>G (n.*3374A>G) c.*163A>G (n.*163A>G) n.3908A>G c.3722A>G (p.Glu1241Gly) c.3677A>G (p.Glu1226Gly) c.3632A>G (p.Glu1211Gly) c.3701A>G (p.Glu1234Gly) c.3686A>G (p.Glu1229Gly) c.3665A>G (p.Glu1222Gly) c.3659A>G (p.Glu1220Gly) c.3614A>G (p.Glu1205Gly) c.3605A>G (p.Glu1202Gly) c.3581A>G (p.Glu1194Gly) c.3575A>G (p.Glu1192Gly) c.3548A>G (p.Glu1183Gly) c.3542A>G (p.Glu1181Gly) c.3536A>G (p.Glu1179Gly) c.3497A>G (p.Glu1166Gly) c.3485A>G (p.Glu1162Gly) c.3428A>G (p.Glu1143Gly) c.3404A>G (p.Glu1135Gly) c.3398A>G (p.Glu1133Gly) c.3380A>G (p.Glu1127Gly) c.3326A>G (p.Glu1109Gly) c.2633A>G (p.Glu878Gly) c.2546A>G (p.Glu849Gly) n.3822A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727860A>T | CA399313779 | ERBB2 | c.3584A>T (p.Glu1195Val) c.3494A>T (p.Glu1165Val) c.2756A>T (p.Glu919Val) c.3539A>T (p.Glu1180Val) c.*3374A>T (n.*3374A>T) c.*163A>T (n.*163A>T) n.3908A>T c.3722A>T (p.Glu1241Val) c.3677A>T (p.Glu1226Val) c.3632A>T (p.Glu1211Val) c.3701A>T (p.Glu1234Val) c.3686A>T (p.Glu1229Val) c.3665A>T (p.Glu1222Val) c.3659A>T (p.Glu1220Val) c.3614A>T (p.Glu1205Val) c.3605A>T (p.Glu1202Val) c.3581A>T (p.Glu1194Val) c.3575A>T (p.Glu1192Val) c.3548A>T (p.Glu1183Val) c.3542A>T (p.Glu1181Val) c.3536A>T (p.Glu1179Val) c.3497A>T (p.Glu1166Val) c.3485A>T (p.Glu1162Val) c.3428A>T (p.Glu1143Val) c.3404A>T (p.Glu1135Val) c.3398A>T (p.Glu1133Val) c.3380A>T (p.Glu1127Val) c.3326A>T (p.Glu1109Val) c.2633A>T (p.Glu878Val) c.2546A>T (p.Glu849Val) n.3822A>T | dbSNP |
17 | g.39727861G>A | CA499890764 | ERBB2 | c.3585G>A (p.Glu1195=) c.3495G>A (p.Glu1165=) c.2757G>A (p.Glu919=) c.3540G>A (p.Glu1180=) c.*3375G>A (n.*3375G>A) c.*164G>A (n.*164G>A) n.3909G>A c.3723G>A (p.Glu1241=) c.3678G>A (p.Glu1226=) c.3633G>A (p.Glu1211=) c.3702G>A (p.Glu1234=) c.3687G>A (p.Glu1229=) c.3666G>A (p.Glu1222=) c.3660G>A (p.Glu1220=) c.3615G>A (p.Glu1205=) c.3606G>A (p.Glu1202=) c.3582G>A (p.Glu1194=) c.3576G>A (p.Glu1192=) c.3549G>A (p.Glu1183=) c.3543G>A (p.Glu1181=) c.3537G>A (p.Glu1179=) c.3498G>A (p.Glu1166=) c.3486G>A (p.Glu1162=) c.3429G>A (p.Glu1143=) c.3405G>A (p.Glu1135=) c.3399G>A (p.Glu1133=) c.3381G>A (p.Glu1127=) c.3327G>A (p.Glu1109=) c.2634G>A (p.Glu878=) c.2547G>A (p.Glu849=) n.3823G>A | dbSNP gnomAD v4 |
17 | g.39727861G>C | CA399313782 | ERBB2 | c.3585G>C (p.Glu1195Asp) c.3495G>C (p.Glu1165Asp) c.2757G>C (p.Glu919Asp) c.3540G>C (p.Glu1180Asp) c.*3375G>C (n.*3375G>C) c.*164G>C (n.*164G>C) n.3909G>C c.3723G>C (p.Glu1241Asp) c.3678G>C (p.Glu1226Asp) c.3633G>C (p.Glu1211Asp) c.3702G>C (p.Glu1234Asp) c.3687G>C (p.Glu1229Asp) c.3666G>C (p.Glu1222Asp) c.3660G>C (p.Glu1220Asp) c.3615G>C (p.Glu1205Asp) c.3606G>C (p.Glu1202Asp) c.3582G>C (p.Glu1194Asp) c.3576G>C (p.Glu1192Asp) c.3549G>C (p.Glu1183Asp) c.3543G>C (p.Glu1181Asp) c.3537G>C (p.Glu1179Asp) c.3498G>C (p.Glu1166Asp) c.3486G>C (p.Glu1162Asp) c.3429G>C (p.Glu1143Asp) c.3405G>C (p.Glu1135Asp) c.3399G>C (p.Glu1133Asp) c.3381G>C (p.Glu1127Asp) c.3327G>C (p.Glu1109Asp) c.2634G>C (p.Glu878Asp) c.2547G>C (p.Glu849Asp) n.3823G>C | dbSNP |
17 | g.39727861G>T | CA399313783 | ERBB2 | c.3585G>T (p.Glu1195Asp) c.3495G>T (p.Glu1165Asp) c.2757G>T (p.Glu919Asp) c.3540G>T (p.Glu1180Asp) c.*3375G>T (n.*3375G>T) c.*164G>T (n.*164G>T) n.3909G>T c.3723G>T (p.Glu1241Asp) c.3678G>T (p.Glu1226Asp) c.3633G>T (p.Glu1211Asp) c.3702G>T (p.Glu1234Asp) c.3687G>T (p.Glu1229Asp) c.3666G>T (p.Glu1222Asp) c.3660G>T (p.Glu1220Asp) c.3615G>T (p.Glu1205Asp) c.3606G>T (p.Glu1202Asp) c.3582G>T (p.Glu1194Asp) c.3576G>T (p.Glu1192Asp) c.3549G>T (p.Glu1183Asp) c.3543G>T (p.Glu1181Asp) c.3537G>T (p.Glu1179Asp) c.3498G>T (p.Glu1166Asp) c.3486G>T (p.Glu1162Asp) c.3429G>T (p.Glu1143Asp) c.3405G>T (p.Glu1135Asp) c.3399G>T (p.Glu1133Asp) c.3381G>T (p.Glu1127Asp) c.3327G>T (p.Glu1109Asp) c.2634G>T (p.Glu878Asp) c.2547G>T (p.Glu849Asp) n.3823G>T | |
17 | g.39727862T>A | CA399313784 | ERBB2 | c.3586T>A (p.Tyr1196Asn) c.3496T>A (p.Tyr1166Asn) c.2758T>A (p.Tyr920Asn) c.3541T>A (p.Tyr1181Asn) c.*3376T>A (n.*3376T>A) c.*165T>A (n.*165T>A) n.3910T>A c.3724T>A (p.Tyr1242Asn) c.3679T>A (p.Tyr1227Asn) c.3634T>A (p.Tyr1212Asn) c.3703T>A (p.Tyr1235Asn) c.3688T>A (p.Tyr1230Asn) c.3667T>A (p.Tyr1223Asn) c.3661T>A (p.Tyr1221Asn) c.3616T>A (p.Tyr1206Asn) c.3607T>A (p.Tyr1203Asn) c.3583T>A (p.Tyr1195Asn) c.3577T>A (p.Tyr1193Asn) c.3550T>A (p.Tyr1184Asn) c.3544T>A (p.Tyr1182Asn) c.3538T>A (p.Tyr1180Asn) c.3499T>A (p.Tyr1167Asn) c.3487T>A (p.Tyr1163Asn) c.3430T>A (p.Tyr1144Asn) c.3406T>A (p.Tyr1136Asn) c.3400T>A (p.Tyr1134Asn) c.3382T>A (p.Tyr1128Asn) c.3328T>A (p.Tyr1110Asn) c.2635T>A (p.Tyr879Asn) c.2548T>A (p.Tyr850Asn) n.3824T>A | dbSNP |
17 | g.39727862T>C | CA399313785 | ERBB2 | c.3586T>C (p.Tyr1196His) c.3496T>C (p.Tyr1166His) c.2758T>C (p.Tyr920His) c.3541T>C (p.Tyr1181His) c.*3376T>C (n.*3376T>C) c.*165T>C (n.*165T>C) n.3910T>C c.3724T>C (p.Tyr1242His) c.3679T>C (p.Tyr1227His) c.3634T>C (p.Tyr1212His) c.3703T>C (p.Tyr1235His) c.3688T>C (p.Tyr1230His) c.3667T>C (p.Tyr1223His) c.3661T>C (p.Tyr1221His) c.3616T>C (p.Tyr1206His) c.3607T>C (p.Tyr1203His) c.3583T>C (p.Tyr1195His) c.3577T>C (p.Tyr1193His) c.3550T>C (p.Tyr1184His) c.3544T>C (p.Tyr1182His) c.3538T>C (p.Tyr1180His) c.3499T>C (p.Tyr1167His) c.3487T>C (p.Tyr1163His) c.3430T>C (p.Tyr1144His) c.3406T>C (p.Tyr1136His) c.3400T>C (p.Tyr1134His) c.3382T>C (p.Tyr1128His) c.3328T>C (p.Tyr1110His) c.2635T>C (p.Tyr879His) c.2548T>C (p.Tyr850His) n.3824T>C | dbSNP |
17 | g.39727862T>G | CA399313787 | ERBB2 | c.3586T>G (p.Tyr1196Asp) c.3496T>G (p.Tyr1166Asp) c.2758T>G (p.Tyr920Asp) c.3541T>G (p.Tyr1181Asp) c.*3376T>G (n.*3376T>G) c.*165T>G (n.*165T>G) n.3910T>G c.3724T>G (p.Tyr1242Asp) c.3679T>G (p.Tyr1227Asp) c.3634T>G (p.Tyr1212Asp) c.3703T>G (p.Tyr1235Asp) c.3688T>G (p.Tyr1230Asp) c.3667T>G (p.Tyr1223Asp) c.3661T>G (p.Tyr1221Asp) c.3616T>G (p.Tyr1206Asp) c.3607T>G (p.Tyr1203Asp) c.3583T>G (p.Tyr1195Asp) c.3577T>G (p.Tyr1193Asp) c.3550T>G (p.Tyr1184Asp) c.3544T>G (p.Tyr1182Asp) c.3538T>G (p.Tyr1180Asp) c.3499T>G (p.Tyr1167Asp) c.3487T>G (p.Tyr1163Asp) c.3430T>G (p.Tyr1144Asp) c.3406T>G (p.Tyr1136Asp) c.3400T>G (p.Tyr1134Asp) c.3382T>G (p.Tyr1128Asp) c.3328T>G (p.Tyr1110Asp) c.2635T>G (p.Tyr879Asp) c.2548T>G (p.Tyr850Asp) n.3824T>G | dbSNP |
17 | g.39727863A>C | CA399313791 | ERBB2 | c.3587A>C (p.Tyr1196Ser) c.3497A>C (p.Tyr1166Ser) c.2759A>C (p.Tyr920Ser) c.3542A>C (p.Tyr1181Ser) c.*3377A>C (n.*3377A>C) c.*166A>C (n.*166A>C) n.3911A>C c.3725A>C (p.Tyr1242Ser) c.3680A>C (p.Tyr1227Ser) c.3635A>C (p.Tyr1212Ser) c.3704A>C (p.Tyr1235Ser) c.3689A>C (p.Tyr1230Ser) c.3668A>C (p.Tyr1223Ser) c.3662A>C (p.Tyr1221Ser) c.3617A>C (p.Tyr1206Ser) c.3608A>C (p.Tyr1203Ser) c.3584A>C (p.Tyr1195Ser) c.3578A>C (p.Tyr1193Ser) c.3551A>C (p.Tyr1184Ser) c.3545A>C (p.Tyr1182Ser) c.3539A>C (p.Tyr1180Ser) c.3500A>C (p.Tyr1167Ser) c.3488A>C (p.Tyr1163Ser) c.3431A>C (p.Tyr1144Ser) c.3407A>C (p.Tyr1136Ser) c.3401A>C (p.Tyr1134Ser) c.3383A>C (p.Tyr1128Ser) c.3329A>C (p.Tyr1110Ser) c.2636A>C (p.Tyr879Ser) c.2549A>C (p.Tyr850Ser) n.3825A>C | dbSNP |
17 | g.39727863A>G | CA399313801 | ERBB2 | c.3587A>G (p.Tyr1196Cys) c.3497A>G (p.Tyr1166Cys) c.2759A>G (p.Tyr920Cys) c.3542A>G (p.Tyr1181Cys) c.*3377A>G (n.*3377A>G) c.*166A>G (n.*166A>G) n.3911A>G c.3725A>G (p.Tyr1242Cys) c.3680A>G (p.Tyr1227Cys) c.3635A>G (p.Tyr1212Cys) c.3704A>G (p.Tyr1235Cys) c.3689A>G (p.Tyr1230Cys) c.3668A>G (p.Tyr1223Cys) c.3662A>G (p.Tyr1221Cys) c.3617A>G (p.Tyr1206Cys) c.3608A>G (p.Tyr1203Cys) c.3584A>G (p.Tyr1195Cys) c.3578A>G (p.Tyr1193Cys) c.3551A>G (p.Tyr1184Cys) c.3545A>G (p.Tyr1182Cys) c.3539A>G (p.Tyr1180Cys) c.3500A>G (p.Tyr1167Cys) c.3488A>G (p.Tyr1163Cys) c.3431A>G (p.Tyr1144Cys) c.3407A>G (p.Tyr1136Cys) c.3401A>G (p.Tyr1134Cys) c.3383A>G (p.Tyr1128Cys) c.3329A>G (p.Tyr1110Cys) c.2636A>G (p.Tyr879Cys) c.2549A>G (p.Tyr850Cys) n.3825A>G | dbSNP |
17 | g.39727863A>T | CA399313803 | ERBB2 | c.3587A>T (p.Tyr1196Phe) c.3497A>T (p.Tyr1166Phe) c.2759A>T (p.Tyr920Phe) c.3542A>T (p.Tyr1181Phe) c.*3377A>T (n.*3377A>T) c.*166A>T (n.*166A>T) n.3911A>T c.3725A>T (p.Tyr1242Phe) c.3680A>T (p.Tyr1227Phe) c.3635A>T (p.Tyr1212Phe) c.3704A>T (p.Tyr1235Phe) c.3689A>T (p.Tyr1230Phe) c.3668A>T (p.Tyr1223Phe) c.3662A>T (p.Tyr1221Phe) c.3617A>T (p.Tyr1206Phe) c.3608A>T (p.Tyr1203Phe) c.3584A>T (p.Tyr1195Phe) c.3578A>T (p.Tyr1193Phe) c.3551A>T (p.Tyr1184Phe) c.3545A>T (p.Tyr1182Phe) c.3539A>T (p.Tyr1180Phe) c.3500A>T (p.Tyr1167Phe) c.3488A>T (p.Tyr1163Phe) c.3431A>T (p.Tyr1144Phe) c.3407A>T (p.Tyr1136Phe) c.3401A>T (p.Tyr1134Phe) c.3383A>T (p.Tyr1128Phe) c.3329A>T (p.Tyr1110Phe) c.2636A>T (p.Tyr879Phe) c.2549A>T (p.Tyr850Phe) n.3825A>T | dbSNP |
17 | g.39727864C>A | CA399313809 | ERBB2 | c.3588C>A (p.Tyr1196Ter) c.3498C>A (p.Tyr1166Ter) c.2760C>A (p.Tyr920Ter) c.3543C>A (p.Tyr1181Ter) c.*3378C>A (n.*3378C>A) c.*167C>A (n.*167C>A) n.3912C>A c.3726C>A (p.Tyr1242Ter) c.3681C>A (p.Tyr1227Ter) c.3636C>A (p.Tyr1212Ter) c.3705C>A (p.Tyr1235Ter) c.3690C>A (p.Tyr1230Ter) c.3669C>A (p.Tyr1223Ter) c.3663C>A (p.Tyr1221Ter) c.3618C>A (p.Tyr1206Ter) c.3609C>A (p.Tyr1203Ter) c.3585C>A (p.Tyr1195Ter) c.3579C>A (p.Tyr1193Ter) c.3552C>A (p.Tyr1184Ter) c.3546C>A (p.Tyr1182Ter) c.3540C>A (p.Tyr1180Ter) c.3501C>A (p.Tyr1167Ter) c.3489C>A (p.Tyr1163Ter) c.3432C>A (p.Tyr1144Ter) c.3408C>A (p.Tyr1136Ter) c.3402C>A (p.Tyr1134Ter) c.3384C>A (p.Tyr1128Ter) c.3330C>A (p.Tyr1110Ter) c.2637C>A (p.Tyr879Ter) c.2550C>A (p.Tyr850Ter) n.3826C>A | |
17 | g.39727864C>G | CA399313811 | ERBB2 | c.3588C>G (p.Tyr1196Ter) c.3498C>G (p.Tyr1166Ter) c.2760C>G (p.Tyr920Ter) c.3543C>G (p.Tyr1181Ter) c.*3378C>G (n.*3378C>G) c.*167C>G (n.*167C>G) n.3912C>G c.3726C>G (p.Tyr1242Ter) c.3681C>G (p.Tyr1227Ter) c.3636C>G (p.Tyr1212Ter) c.3705C>G (p.Tyr1235Ter) c.3690C>G (p.Tyr1230Ter) c.3669C>G (p.Tyr1223Ter) c.3663C>G (p.Tyr1221Ter) c.3618C>G (p.Tyr1206Ter) c.3609C>G (p.Tyr1203Ter) c.3585C>G (p.Tyr1195Ter) c.3579C>G (p.Tyr1193Ter) c.3552C>G (p.Tyr1184Ter) c.3546C>G (p.Tyr1182Ter) c.3540C>G (p.Tyr1180Ter) c.3501C>G (p.Tyr1167Ter) c.3489C>G (p.Tyr1163Ter) c.3432C>G (p.Tyr1144Ter) c.3408C>G (p.Tyr1136Ter) c.3402C>G (p.Tyr1134Ter) c.3384C>G (p.Tyr1128Ter) c.3330C>G (p.Tyr1110Ter) c.2637C>G (p.Tyr879Ter) c.2550C>G (p.Tyr850Ter) n.3826C>G | |
17 | g.39727864C>T | CA499890767 | ERBB2 | c.3588C>T (p.Tyr1196=) c.3498C>T (p.Tyr1166=) c.2760C>T (p.Tyr920=) c.3543C>T (p.Tyr1181=) c.*3378C>T (n.*3378C>T) c.*167C>T (n.*167C>T) n.3912C>T c.3726C>T (p.Tyr1242=) c.3681C>T (p.Tyr1227=) c.3636C>T (p.Tyr1212=) c.3705C>T (p.Tyr1235=) c.3690C>T (p.Tyr1230=) c.3669C>T (p.Tyr1223=) c.3663C>T (p.Tyr1221=) c.3618C>T (p.Tyr1206=) c.3609C>T (p.Tyr1203=) c.3585C>T (p.Tyr1195=) c.3579C>T (p.Tyr1193=) c.3552C>T (p.Tyr1184=) c.3546C>T (p.Tyr1182=) c.3540C>T (p.Tyr1180=) c.3501C>T (p.Tyr1167=) c.3489C>T (p.Tyr1163=) c.3432C>T (p.Tyr1144=) c.3408C>T (p.Tyr1136=) c.3402C>T (p.Tyr1134=) c.3384C>T (p.Tyr1128=) c.3330C>T (p.Tyr1110=) c.2637C>T (p.Tyr879=) c.2550C>T (p.Tyr850=) n.3826C>T | |
17 | g.39727865T>A | CA399313815 | ERBB2 | c.3589T>A (p.Leu1197Met) c.3499T>A (p.Leu1167Met) c.2761T>A (p.Leu921Met) c.3544T>A (p.Leu1182Met) c.*3379T>A (n.*3379T>A) c.*168T>A (n.*168T>A) n.3913T>A c.3727T>A (p.Leu1243Met) c.3682T>A (p.Leu1228Met) c.3637T>A (p.Leu1213Met) c.3706T>A (p.Leu1236Met) c.3691T>A (p.Leu1231Met) c.3670T>A (p.Leu1224Met) c.3664T>A (p.Leu1222Met) c.3619T>A (p.Leu1207Met) c.3610T>A (p.Leu1204Met) c.3586T>A (p.Leu1196Met) c.3580T>A (p.Leu1194Met) c.3553T>A (p.Leu1185Met) c.3547T>A (p.Leu1183Met) c.3541T>A (p.Leu1181Met) c.3502T>A (p.Leu1168Met) c.3490T>A (p.Leu1164Met) c.3433T>A (p.Leu1145Met) c.3409T>A (p.Leu1137Met) c.3403T>A (p.Leu1135Met) c.3385T>A (p.Leu1129Met) c.3331T>A (p.Leu1111Met) c.2638T>A (p.Leu880Met) c.2551T>A (p.Leu851Met) n.3827T>A | dbSNP |
17 | g.39727865T>C | CA499890768 | ERBB2 | c.3589T>C (p.Leu1197=) c.3499T>C (p.Leu1167=) c.2761T>C (p.Leu921=) c.3544T>C (p.Leu1182=) c.*3379T>C (n.*3379T>C) c.*168T>C (n.*168T>C) n.3913T>C c.3727T>C (p.Leu1243=) c.3682T>C (p.Leu1228=) c.3637T>C (p.Leu1213=) c.3706T>C (p.Leu1236=) c.3691T>C (p.Leu1231=) c.3670T>C (p.Leu1224=) c.3664T>C (p.Leu1222=) c.3619T>C (p.Leu1207=) c.3610T>C (p.Leu1204=) c.3586T>C (p.Leu1196=) c.3580T>C (p.Leu1194=) c.3553T>C (p.Leu1185=) c.3547T>C (p.Leu1183=) c.3541T>C (p.Leu1181=) c.3502T>C (p.Leu1168=) c.3490T>C (p.Leu1164=) c.3433T>C (p.Leu1145=) c.3409T>C (p.Leu1137=) c.3403T>C (p.Leu1135=) c.3385T>C (p.Leu1129=) c.3331T>C (p.Leu1111=) c.2638T>C (p.Leu880=) c.2551T>C (p.Leu851=) n.3827T>C | dbSNP |
17 | g.39727865T>G | CA399313816 | ERBB2 | c.3589T>G (p.Leu1197Val) c.3499T>G (p.Leu1167Val) c.2761T>G (p.Leu921Val) c.3544T>G (p.Leu1182Val) c.*3379T>G (n.*3379T>G) c.*168T>G (n.*168T>G) n.3913T>G c.3727T>G (p.Leu1243Val) c.3682T>G (p.Leu1228Val) c.3637T>G (p.Leu1213Val) c.3706T>G (p.Leu1236Val) c.3691T>G (p.Leu1231Val) c.3670T>G (p.Leu1224Val) c.3664T>G (p.Leu1222Val) c.3619T>G (p.Leu1207Val) c.3610T>G (p.Leu1204Val) c.3586T>G (p.Leu1196Val) c.3580T>G (p.Leu1194Val) c.3553T>G (p.Leu1185Val) c.3547T>G (p.Leu1183Val) c.3541T>G (p.Leu1181Val) c.3502T>G (p.Leu1168Val) c.3490T>G (p.Leu1164Val) c.3433T>G (p.Leu1145Val) c.3409T>G (p.Leu1137Val) c.3403T>G (p.Leu1135Val) c.3385T>G (p.Leu1129Val) c.3331T>G (p.Leu1111Val) c.2638T>G (p.Leu880Val) c.2551T>G (p.Leu851Val) n.3827T>G | dbSNP |
17 | g.39727866T>A | CA399313819 | ERBB2 | c.3590T>A (p.Leu1197Ter) c.3500T>A (p.Leu1167Ter) c.2762T>A (p.Leu921Ter) c.3545T>A (p.Leu1182Ter) c.*3380T>A (n.*3380T>A) c.*169T>A (n.*169T>A) n.3914T>A c.3728T>A (p.Leu1243Ter) c.3683T>A (p.Leu1228Ter) c.3638T>A (p.Leu1213Ter) c.3707T>A (p.Leu1236Ter) c.3692T>A (p.Leu1231Ter) c.3671T>A (p.Leu1224Ter) c.3665T>A (p.Leu1222Ter) c.3620T>A (p.Leu1207Ter) c.3611T>A (p.Leu1204Ter) c.3587T>A (p.Leu1196Ter) c.3581T>A (p.Leu1194Ter) c.3554T>A (p.Leu1185Ter) c.3548T>A (p.Leu1183Ter) c.3542T>A (p.Leu1181Ter) c.3503T>A (p.Leu1168Ter) c.3491T>A (p.Leu1164Ter) c.3434T>A (p.Leu1145Ter) c.3410T>A (p.Leu1137Ter) c.3404T>A (p.Leu1135Ter) c.3386T>A (p.Leu1129Ter) c.3332T>A (p.Leu1111Ter) c.2639T>A (p.Leu880Ter) c.2552T>A (p.Leu851Ter) n.3828T>A | dbSNP |
17 | g.39727866T>C | CA399313821 | ERBB2 | c.3590T>C (p.Leu1197Ser) c.3500T>C (p.Leu1167Ser) c.2762T>C (p.Leu921Ser) c.3545T>C (p.Leu1182Ser) c.*3380T>C (n.*3380T>C) c.*169T>C (n.*169T>C) n.3914T>C c.3728T>C (p.Leu1243Ser) c.3683T>C (p.Leu1228Ser) c.3638T>C (p.Leu1213Ser) c.3707T>C (p.Leu1236Ser) c.3692T>C (p.Leu1231Ser) c.3671T>C (p.Leu1224Ser) c.3665T>C (p.Leu1222Ser) c.3620T>C (p.Leu1207Ser) c.3611T>C (p.Leu1204Ser) c.3587T>C (p.Leu1196Ser) c.3581T>C (p.Leu1194Ser) c.3554T>C (p.Leu1185Ser) c.3548T>C (p.Leu1183Ser) c.3542T>C (p.Leu1181Ser) c.3503T>C (p.Leu1168Ser) c.3491T>C (p.Leu1164Ser) c.3434T>C (p.Leu1145Ser) c.3410T>C (p.Leu1137Ser) c.3404T>C (p.Leu1135Ser) c.3386T>C (p.Leu1129Ser) c.3332T>C (p.Leu1111Ser) c.2639T>C (p.Leu880Ser) c.2552T>C (p.Leu851Ser) n.3828T>C | dbSNP |
17 | g.39727866T>G | CA399313822 | ERBB2 | c.3590T>G (p.Leu1197Trp) c.3500T>G (p.Leu1167Trp) c.2762T>G (p.Leu921Trp) c.3545T>G (p.Leu1182Trp) c.*3380T>G (n.*3380T>G) c.*169T>G (n.*169T>G) n.3914T>G c.3728T>G (p.Leu1243Trp) c.3683T>G (p.Leu1228Trp) c.3638T>G (p.Leu1213Trp) c.3707T>G (p.Leu1236Trp) c.3692T>G (p.Leu1231Trp) c.3671T>G (p.Leu1224Trp) c.3665T>G (p.Leu1222Trp) c.3620T>G (p.Leu1207Trp) c.3611T>G (p.Leu1204Trp) c.3587T>G (p.Leu1196Trp) c.3581T>G (p.Leu1194Trp) c.3554T>G (p.Leu1185Trp) c.3548T>G (p.Leu1183Trp) c.3542T>G (p.Leu1181Trp) c.3503T>G (p.Leu1168Trp) c.3491T>G (p.Leu1164Trp) c.3434T>G (p.Leu1145Trp) c.3410T>G (p.Leu1137Trp) c.3404T>G (p.Leu1135Trp) c.3386T>G (p.Leu1129Trp) c.3332T>G (p.Leu1111Trp) c.2639T>G (p.Leu880Trp) c.2552T>G (p.Leu851Trp) n.3828T>G | |
17 | g.39727867G>A | CA499890772 | ERBB2 | c.3591G>A (p.Leu1197=) c.3501G>A (p.Leu1167=) c.2763G>A (p.Leu921=) c.3546G>A (p.Leu1182=) c.*3381G>A (n.*3381G>A) c.*170G>A (n.*170G>A) n.3915G>A c.3729G>A (p.Leu1243=) c.3684G>A (p.Leu1228=) c.3639G>A (p.Leu1213=) c.3708G>A (p.Leu1236=) c.3693G>A (p.Leu1231=) c.3672G>A (p.Leu1224=) c.3666G>A (p.Leu1222=) c.3621G>A (p.Leu1207=) c.3612G>A (p.Leu1204=) c.3588G>A (p.Leu1196=) c.3582G>A (p.Leu1194=) c.3555G>A (p.Leu1185=) c.3549G>A (p.Leu1183=) c.3543G>A (p.Leu1181=) c.3504G>A (p.Leu1168=) c.3492G>A (p.Leu1164=) c.3435G>A (p.Leu1145=) c.3411G>A (p.Leu1137=) c.3405G>A (p.Leu1135=) c.3387G>A (p.Leu1129=) c.3333G>A (p.Leu1111=) c.2640G>A (p.Leu880=) c.2553G>A (p.Leu851=) n.3829G>A | ClinVar dbSNP gnomAD v4 |
17 | g.39727867G>C | CA399313825 | ERBB2 | c.3591G>C (p.Leu1197Phe) c.3501G>C (p.Leu1167Phe) c.2763G>C (p.Leu921Phe) c.3546G>C (p.Leu1182Phe) c.*3381G>C (n.*3381G>C) c.*170G>C (n.*170G>C) n.3915G>C c.3729G>C (p.Leu1243Phe) c.3684G>C (p.Leu1228Phe) c.3639G>C (p.Leu1213Phe) c.3708G>C (p.Leu1236Phe) c.3693G>C (p.Leu1231Phe) c.3672G>C (p.Leu1224Phe) c.3666G>C (p.Leu1222Phe) c.3621G>C (p.Leu1207Phe) c.3612G>C (p.Leu1204Phe) c.3588G>C (p.Leu1196Phe) c.3582G>C (p.Leu1194Phe) c.3555G>C (p.Leu1185Phe) c.3549G>C (p.Leu1183Phe) c.3543G>C (p.Leu1181Phe) c.3504G>C (p.Leu1168Phe) c.3492G>C (p.Leu1164Phe) c.3435G>C (p.Leu1145Phe) c.3411G>C (p.Leu1137Phe) c.3405G>C (p.Leu1135Phe) c.3387G>C (p.Leu1129Phe) c.3333G>C (p.Leu1111Phe) c.2640G>C (p.Leu880Phe) c.2553G>C (p.Leu851Phe) n.3829G>C | dbSNP |
17 | g.39727867G>T | CA399313827 | ERBB2 | c.3591G>T (p.Leu1197Phe) c.3501G>T (p.Leu1167Phe) c.2763G>T (p.Leu921Phe) c.3546G>T (p.Leu1182Phe) c.*3381G>T (n.*3381G>T) c.*170G>T (n.*170G>T) n.3915G>T c.3729G>T (p.Leu1243Phe) c.3684G>T (p.Leu1228Phe) c.3639G>T (p.Leu1213Phe) c.3708G>T (p.Leu1236Phe) c.3693G>T (p.Leu1231Phe) c.3672G>T (p.Leu1224Phe) c.3666G>T (p.Leu1222Phe) c.3621G>T (p.Leu1207Phe) c.3612G>T (p.Leu1204Phe) c.3588G>T (p.Leu1196Phe) c.3582G>T (p.Leu1194Phe) c.3555G>T (p.Leu1185Phe) c.3549G>T (p.Leu1183Phe) c.3543G>T (p.Leu1181Phe) c.3504G>T (p.Leu1168Phe) c.3492G>T (p.Leu1164Phe) c.3435G>T (p.Leu1145Phe) c.3411G>T (p.Leu1137Phe) c.3405G>T (p.Leu1135Phe) c.3387G>T (p.Leu1129Phe) c.3333G>T (p.Leu1111Phe) c.2640G>T (p.Leu880Phe) c.2553G>T (p.Leu851Phe) n.3829G>T | dbSNP |
17 | g.39727868A>C | CA399313829 | ERBB2 | c.3592A>C (p.Thr1198Pro) c.3502A>C (p.Thr1168Pro) c.2764A>C (p.Thr922Pro) c.3547A>C (p.Thr1183Pro) c.*3382A>C (n.*3382A>C) c.*171A>C (n.*171A>C) n.3916A>C c.3730A>C (p.Thr1244Pro) c.3685A>C (p.Thr1229Pro) c.3640A>C (p.Thr1214Pro) c.3709A>C (p.Thr1237Pro) c.3694A>C (p.Thr1232Pro) c.3673A>C (p.Thr1225Pro) c.3667A>C (p.Thr1223Pro) c.3622A>C (p.Thr1208Pro) c.3613A>C (p.Thr1205Pro) c.3589A>C (p.Thr1197Pro) c.3583A>C (p.Thr1195Pro) c.3556A>C (p.Thr1186Pro) c.3550A>C (p.Thr1184Pro) c.3544A>C (p.Thr1182Pro) c.3505A>C (p.Thr1169Pro) c.3493A>C (p.Thr1165Pro) c.3436A>C (p.Thr1146Pro) c.3412A>C (p.Thr1138Pro) c.3406A>C (p.Thr1136Pro) c.3388A>C (p.Thr1130Pro) c.3334A>C (p.Thr1112Pro) c.2641A>C (p.Thr881Pro) c.2554A>C (p.Thr852Pro) n.3830A>C | dbSNP |
17 | g.39727868A>G | CA399313833 | ERBB2 | c.3592A>G (p.Thr1198Ala) c.3502A>G (p.Thr1168Ala) c.2764A>G (p.Thr922Ala) c.3547A>G (p.Thr1183Ala) c.*3382A>G (n.*3382A>G) c.*171A>G (n.*171A>G) n.3916A>G c.3730A>G (p.Thr1244Ala) c.3685A>G (p.Thr1229Ala) c.3640A>G (p.Thr1214Ala) c.3709A>G (p.Thr1237Ala) c.3694A>G (p.Thr1232Ala) c.3673A>G (p.Thr1225Ala) c.3667A>G (p.Thr1223Ala) c.3622A>G (p.Thr1208Ala) c.3613A>G (p.Thr1205Ala) c.3589A>G (p.Thr1197Ala) c.3583A>G (p.Thr1195Ala) c.3556A>G (p.Thr1186Ala) c.3550A>G (p.Thr1184Ala) c.3544A>G (p.Thr1182Ala) c.3505A>G (p.Thr1169Ala) c.3493A>G (p.Thr1165Ala) c.3436A>G (p.Thr1146Ala) c.3412A>G (p.Thr1138Ala) c.3406A>G (p.Thr1136Ala) c.3388A>G (p.Thr1130Ala) c.3334A>G (p.Thr1112Ala) c.2641A>G (p.Thr881Ala) c.2554A>G (p.Thr852Ala) n.3830A>G | dbSNP |
17 | g.39727868A>T | CA399313836 | ERBB2 | c.3592A>T (p.Thr1198Ser) c.3502A>T (p.Thr1168Ser) c.2764A>T (p.Thr922Ser) c.3547A>T (p.Thr1183Ser) c.*3382A>T (n.*3382A>T) c.*171A>T (n.*171A>T) n.3916A>T c.3730A>T (p.Thr1244Ser) c.3685A>T (p.Thr1229Ser) c.3640A>T (p.Thr1214Ser) c.3709A>T (p.Thr1237Ser) c.3694A>T (p.Thr1232Ser) c.3673A>T (p.Thr1225Ser) c.3667A>T (p.Thr1223Ser) c.3622A>T (p.Thr1208Ser) c.3613A>T (p.Thr1205Ser) c.3589A>T (p.Thr1197Ser) c.3583A>T (p.Thr1195Ser) c.3556A>T (p.Thr1186Ser) c.3550A>T (p.Thr1184Ser) c.3544A>T (p.Thr1182Ser) c.3505A>T (p.Thr1169Ser) c.3493A>T (p.Thr1165Ser) c.3436A>T (p.Thr1146Ser) c.3412A>T (p.Thr1138Ser) c.3406A>T (p.Thr1136Ser) c.3388A>T (p.Thr1130Ser) c.3334A>T (p.Thr1112Ser) c.2641A>T (p.Thr881Ser) c.2554A>T (p.Thr852Ser) n.3830A>T | dbSNP |
17 | g.39727869C>A | CA399313838 | ERBB2 | c.3593C>A (p.Thr1198Lys) c.3503C>A (p.Thr1168Lys) c.2765C>A (p.Thr922Lys) c.3548C>A (p.Thr1183Lys) c.*3383C>A (n.*3383C>A) c.*172C>A (n.*172C>A) n.3917C>A c.3731C>A (p.Thr1244Lys) c.3686C>A (p.Thr1229Lys) c.3641C>A (p.Thr1214Lys) c.3710C>A (p.Thr1237Lys) c.3695C>A (p.Thr1232Lys) c.3674C>A (p.Thr1225Lys) c.3668C>A (p.Thr1223Lys) c.3623C>A (p.Thr1208Lys) c.3614C>A (p.Thr1205Lys) c.3590C>A (p.Thr1197Lys) c.3584C>A (p.Thr1195Lys) c.3557C>A (p.Thr1186Lys) c.3551C>A (p.Thr1184Lys) c.3545C>A (p.Thr1182Lys) c.3506C>A (p.Thr1169Lys) c.3494C>A (p.Thr1165Lys) c.3437C>A (p.Thr1146Lys) c.3413C>A (p.Thr1138Lys) c.3407C>A (p.Thr1136Lys) c.3389C>A (p.Thr1130Lys) c.3335C>A (p.Thr1112Lys) c.2642C>A (p.Thr881Lys) c.2555C>A (p.Thr852Lys) n.3831C>A | dbSNP |
17 | g.39727869C>G | CA399313841 | ERBB2 | c.3593C>G (p.Thr1198Arg) c.3503C>G (p.Thr1168Arg) c.2765C>G (p.Thr922Arg) c.3548C>G (p.Thr1183Arg) c.*3383C>G (n.*3383C>G) c.*172C>G (n.*172C>G) n.3917C>G c.3731C>G (p.Thr1244Arg) c.3686C>G (p.Thr1229Arg) c.3641C>G (p.Thr1214Arg) c.3710C>G (p.Thr1237Arg) c.3695C>G (p.Thr1232Arg) c.3674C>G (p.Thr1225Arg) c.3668C>G (p.Thr1223Arg) c.3623C>G (p.Thr1208Arg) c.3614C>G (p.Thr1205Arg) c.3590C>G (p.Thr1197Arg) c.3584C>G (p.Thr1195Arg) c.3557C>G (p.Thr1186Arg) c.3551C>G (p.Thr1184Arg) c.3545C>G (p.Thr1182Arg) c.3506C>G (p.Thr1169Arg) c.3494C>G (p.Thr1165Arg) c.3437C>G (p.Thr1146Arg) c.3413C>G (p.Thr1138Arg) c.3407C>G (p.Thr1136Arg) c.3389C>G (p.Thr1130Arg) c.3335C>G (p.Thr1112Arg) c.2642C>G (p.Thr881Arg) c.2555C>G (p.Thr852Arg) n.3831C>G | dbSNP |
17 | g.39727869C>T | CA399313843 | ERBB2 | c.3593C>T (p.Thr1198Ile) c.3503C>T (p.Thr1168Ile) c.2765C>T (p.Thr922Ile) c.3548C>T (p.Thr1183Ile) c.*3383C>T (n.*3383C>T) c.*172C>T (n.*172C>T) n.3917C>T c.3731C>T (p.Thr1244Ile) c.3686C>T (p.Thr1229Ile) c.3641C>T (p.Thr1214Ile) c.3710C>T (p.Thr1237Ile) c.3695C>T (p.Thr1232Ile) c.3674C>T (p.Thr1225Ile) c.3668C>T (p.Thr1223Ile) c.3623C>T (p.Thr1208Ile) c.3614C>T (p.Thr1205Ile) c.3590C>T (p.Thr1197Ile) c.3584C>T (p.Thr1195Ile) c.3557C>T (p.Thr1186Ile) c.3551C>T (p.Thr1184Ile) c.3545C>T (p.Thr1182Ile) c.3506C>T (p.Thr1169Ile) c.3494C>T (p.Thr1165Ile) c.3437C>T (p.Thr1146Ile) c.3413C>T (p.Thr1138Ile) c.3407C>T (p.Thr1136Ile) c.3389C>T (p.Thr1130Ile) c.3335C>T (p.Thr1112Ile) c.2642C>T (p.Thr881Ile) c.2555C>T (p.Thr852Ile) n.3831C>T | dbSNP |
17 | g.39727870A>C | CA499890776 | ERBB2 | c.3594A>C (p.Thr1198=) c.3504A>C (p.Thr1168=) c.2766A>C (p.Thr922=) c.3549A>C (p.Thr1183=) c.*3384A>C (n.*3384A>C) c.*173A>C (n.*173A>C) n.3918A>C c.3732A>C (p.Thr1244=) c.3687A>C (p.Thr1229=) c.3642A>C (p.Thr1214=) c.3711A>C (p.Thr1237=) c.3696A>C (p.Thr1232=) c.3675A>C (p.Thr1225=) c.3669A>C (p.Thr1223=) c.3624A>C (p.Thr1208=) c.3615A>C (p.Thr1205=) c.3591A>C (p.Thr1197=) c.3585A>C (p.Thr1195=) c.3558A>C (p.Thr1186=) c.3552A>C (p.Thr1184=) c.3546A>C (p.Thr1182=) c.3507A>C (p.Thr1169=) c.3495A>C (p.Thr1165=) c.3438A>C (p.Thr1146=) c.3414A>C (p.Thr1138=) c.3408A>C (p.Thr1136=) c.3390A>C (p.Thr1130=) c.3336A>C (p.Thr1112=) c.2643A>C (p.Thr881=) c.2556A>C (p.Thr852=) n.3832A>C | |
17 | g.39727870A>G | CA499890777 | ERBB2 | c.3594A>G (p.Thr1198=) c.3504A>G (p.Thr1168=) c.2766A>G (p.Thr922=) c.3549A>G (p.Thr1183=) c.*3384A>G (n.*3384A>G) c.*173A>G (n.*173A>G) n.3918A>G c.3732A>G (p.Thr1244=) c.3687A>G (p.Thr1229=) c.3642A>G (p.Thr1214=) c.3711A>G (p.Thr1237=) c.3696A>G (p.Thr1232=) c.3675A>G (p.Thr1225=) c.3669A>G (p.Thr1223=) c.3624A>G (p.Thr1208=) c.3615A>G (p.Thr1205=) c.3591A>G (p.Thr1197=) c.3585A>G (p.Thr1195=) c.3558A>G (p.Thr1186=) c.3552A>G (p.Thr1184=) c.3546A>G (p.Thr1182=) c.3507A>G (p.Thr1169=) c.3495A>G (p.Thr1165=) c.3438A>G (p.Thr1146=) c.3414A>G (p.Thr1138=) c.3408A>G (p.Thr1136=) c.3390A>G (p.Thr1130=) c.3336A>G (p.Thr1112=) c.2643A>G (p.Thr881=) c.2556A>G (p.Thr852=) n.3832A>G | |
17 | g.39727870A>T | CA499890778 | ERBB2 | c.3594A>T (p.Thr1198=) c.3504A>T (p.Thr1168=) c.2766A>T (p.Thr922=) c.3549A>T (p.Thr1183=) c.*3384A>T (n.*3384A>T) c.*173A>T (n.*173A>T) n.3918A>T c.3732A>T (p.Thr1244=) c.3687A>T (p.Thr1229=) c.3642A>T (p.Thr1214=) c.3711A>T (p.Thr1237=) c.3696A>T (p.Thr1232=) c.3675A>T (p.Thr1225=) c.3669A>T (p.Thr1223=) c.3624A>T (p.Thr1208=) c.3615A>T (p.Thr1205=) c.3591A>T (p.Thr1197=) c.3585A>T (p.Thr1195=) c.3558A>T (p.Thr1186=) c.3552A>T (p.Thr1184=) c.3546A>T (p.Thr1182=) c.3507A>T (p.Thr1169=) c.3495A>T (p.Thr1165=) c.3438A>T (p.Thr1146=) c.3414A>T (p.Thr1138=) c.3408A>T (p.Thr1136=) c.3390A>T (p.Thr1130=) c.3336A>T (p.Thr1112=) c.2643A>T (p.Thr881=) c.2556A>T (p.Thr852=) n.3832A>T | |
17 | g.39727871C>A | CA8534589 | ERBB2 | c.3595C>A (p.Pro1199Thr) c.3505C>A (p.Pro1169Thr) c.2767C>A (p.Pro923Thr) c.3550C>A (p.Pro1184Thr) c.*3385C>A (n.*3385C>A) c.*174C>A (n.*174C>A) n.3919C>A c.3733C>A (p.Pro1245Thr) c.3688C>A (p.Pro1230Thr) c.3643C>A (p.Pro1215Thr) c.3712C>A (p.Pro1238Thr) c.3697C>A (p.Pro1233Thr) c.3676C>A (p.Pro1226Thr) c.3670C>A (p.Pro1224Thr) c.3625C>A (p.Pro1209Thr) c.3616C>A (p.Pro1206Thr) c.3592C>A (p.Pro1198Thr) c.3586C>A (p.Pro1196Thr) c.3559C>A (p.Pro1187Thr) c.3553C>A (p.Pro1185Thr) c.3547C>A (p.Pro1183Thr) c.3508C>A (p.Pro1170Thr) c.3496C>A (p.Pro1166Thr) c.3439C>A (p.Pro1147Thr) c.3415C>A (p.Pro1139Thr) c.3409C>A (p.Pro1137Thr) c.3391C>A (p.Pro1131Thr) c.3337C>A (p.Pro1113Thr) c.2644C>A (p.Pro882Thr) c.2557C>A (p.Pro853Thr) n.3833C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727871C= | CA2259229299 | ERBB2 | c.3595C= (p.Pro1199=) c.3505C= (p.Pro1169=) c.2767C= (p.Pro923=) c.3550C= (p.Pro1184=) c.*3385C= (n.*3385C=) c.*174C= (n.*174C=) n.3919C= c.3733C= (p.Pro1245=) c.3688C= (p.Pro1230=) c.3643C= (p.Pro1215=) c.3712C= (p.Pro1238=) c.3697C= (p.Pro1233=) c.3676C= (p.Pro1226=) c.3670C= (p.Pro1224=) c.3625C= (p.Pro1209=) c.3616C= (p.Pro1206=) c.3592C= (p.Pro1198=) c.3586C= (p.Pro1196=) c.3559C= (p.Pro1187=) c.3553C= (p.Pro1185=) c.3547C= (p.Pro1183=) c.3508C= (p.Pro1170=) c.3496C= (p.Pro1166=) c.3439C= (p.Pro1147=) c.3415C= (p.Pro1139=) c.3409C= (p.Pro1137=) c.3391C= (p.Pro1131=) c.3337C= (p.Pro1113=) c.2644C= (p.Pro882=) c.2557C= (p.Pro853=) n.3833C= | |
17 | g.39727871C>G | CA399313848 | ERBB2 | c.3595C>G (p.Pro1199Ala) c.3505C>G (p.Pro1169Ala) c.2767C>G (p.Pro923Ala) c.3550C>G (p.Pro1184Ala) c.*3385C>G (n.*3385C>G) c.*174C>G (n.*174C>G) n.3919C>G c.3733C>G (p.Pro1245Ala) c.3688C>G (p.Pro1230Ala) c.3643C>G (p.Pro1215Ala) c.3712C>G (p.Pro1238Ala) c.3697C>G (p.Pro1233Ala) c.3676C>G (p.Pro1226Ala) c.3670C>G (p.Pro1224Ala) c.3625C>G (p.Pro1209Ala) c.3616C>G (p.Pro1206Ala) c.3592C>G (p.Pro1198Ala) c.3586C>G (p.Pro1196Ala) c.3559C>G (p.Pro1187Ala) c.3553C>G (p.Pro1185Ala) c.3547C>G (p.Pro1183Ala) c.3508C>G (p.Pro1170Ala) c.3496C>G (p.Pro1166Ala) c.3439C>G (p.Pro1147Ala) c.3415C>G (p.Pro1139Ala) c.3409C>G (p.Pro1137Ala) c.3391C>G (p.Pro1131Ala) c.3337C>G (p.Pro1113Ala) c.2644C>G (p.Pro882Ala) c.2557C>G (p.Pro853Ala) n.3833C>G | dbSNP gnomAD v4 |
17 | g.39727871C>T | CA399313845 | ERBB2 | c.3595C>T (p.Pro1199Ser) c.3505C>T (p.Pro1169Ser) c.2767C>T (p.Pro923Ser) c.3550C>T (p.Pro1184Ser) c.*3385C>T (n.*3385C>T) c.*174C>T (n.*174C>T) n.3919C>T c.3733C>T (p.Pro1245Ser) c.3688C>T (p.Pro1230Ser) c.3643C>T (p.Pro1215Ser) c.3712C>T (p.Pro1238Ser) c.3697C>T (p.Pro1233Ser) c.3676C>T (p.Pro1226Ser) c.3670C>T (p.Pro1224Ser) c.3625C>T (p.Pro1209Ser) c.3616C>T (p.Pro1206Ser) c.3592C>T (p.Pro1198Ser) c.3586C>T (p.Pro1196Ser) c.3559C>T (p.Pro1187Ser) c.3553C>T (p.Pro1185Ser) c.3547C>T (p.Pro1183Ser) c.3508C>T (p.Pro1170Ser) c.3496C>T (p.Pro1166Ser) c.3439C>T (p.Pro1147Ser) c.3415C>T (p.Pro1139Ser) c.3409C>T (p.Pro1137Ser) c.3391C>T (p.Pro1131Ser) c.3337C>T (p.Pro1113Ser) c.2644C>T (p.Pro882Ser) c.2557C>T (p.Pro853Ser) n.3833C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727872C>A | CA399313855 | ERBB2 | c.3596C>A (p.Pro1199His) c.3506C>A (p.Pro1169His) c.2768C>A (p.Pro923His) c.3551C>A (p.Pro1184His) c.*3386C>A (n.*3386C>A) c.*175C>A (n.*175C>A) n.3920C>A c.3734C>A (p.Pro1245His) c.3689C>A (p.Pro1230His) c.3644C>A (p.Pro1215His) c.3713C>A (p.Pro1238His) c.3698C>A (p.Pro1233His) c.3677C>A (p.Pro1226His) c.3671C>A (p.Pro1224His) c.3626C>A (p.Pro1209His) c.3617C>A (p.Pro1206His) c.3593C>A (p.Pro1198His) c.3587C>A (p.Pro1196His) c.3560C>A (p.Pro1187His) c.3554C>A (p.Pro1185His) c.3548C>A (p.Pro1183His) c.3509C>A (p.Pro1170His) c.3497C>A (p.Pro1166His) c.3440C>A (p.Pro1147His) c.3416C>A (p.Pro1139His) c.3410C>A (p.Pro1137His) c.3392C>A (p.Pro1131His) c.3338C>A (p.Pro1113His) c.2645C>A (p.Pro882His) c.2558C>A (p.Pro853His) n.3834C>A | |
17 | g.39727872C>G | CA399313858 | ERBB2 | c.3596C>G (p.Pro1199Arg) c.3506C>G (p.Pro1169Arg) c.2768C>G (p.Pro923Arg) c.3551C>G (p.Pro1184Arg) c.*3386C>G (n.*3386C>G) c.*175C>G (n.*175C>G) n.3920C>G c.3734C>G (p.Pro1245Arg) c.3689C>G (p.Pro1230Arg) c.3644C>G (p.Pro1215Arg) c.3713C>G (p.Pro1238Arg) c.3698C>G (p.Pro1233Arg) c.3677C>G (p.Pro1226Arg) c.3671C>G (p.Pro1224Arg) c.3626C>G (p.Pro1209Arg) c.3617C>G (p.Pro1206Arg) c.3593C>G (p.Pro1198Arg) c.3587C>G (p.Pro1196Arg) c.3560C>G (p.Pro1187Arg) c.3554C>G (p.Pro1185Arg) c.3548C>G (p.Pro1183Arg) c.3509C>G (p.Pro1170Arg) c.3497C>G (p.Pro1166Arg) c.3440C>G (p.Pro1147Arg) c.3416C>G (p.Pro1139Arg) c.3410C>G (p.Pro1137Arg) c.3392C>G (p.Pro1131Arg) c.3338C>G (p.Pro1113Arg) c.2645C>G (p.Pro882Arg) c.2558C>G (p.Pro853Arg) n.3834C>G | |
17 | g.39727872C>T | CA399313860 | ERBB2 | c.3596C>T (p.Pro1199Leu) c.3506C>T (p.Pro1169Leu) c.2768C>T (p.Pro923Leu) c.3551C>T (p.Pro1184Leu) c.*3386C>T (n.*3386C>T) c.*175C>T (n.*175C>T) n.3920C>T c.3734C>T (p.Pro1245Leu) c.3689C>T (p.Pro1230Leu) c.3644C>T (p.Pro1215Leu) c.3713C>T (p.Pro1238Leu) c.3698C>T (p.Pro1233Leu) c.3677C>T (p.Pro1226Leu) c.3671C>T (p.Pro1224Leu) c.3626C>T (p.Pro1209Leu) c.3617C>T (p.Pro1206Leu) c.3593C>T (p.Pro1198Leu) c.3587C>T (p.Pro1196Leu) c.3560C>T (p.Pro1187Leu) c.3554C>T (p.Pro1185Leu) c.3548C>T (p.Pro1183Leu) c.3509C>T (p.Pro1170Leu) c.3497C>T (p.Pro1166Leu) c.3440C>T (p.Pro1147Leu) c.3416C>T (p.Pro1139Leu) c.3410C>T (p.Pro1137Leu) c.3392C>T (p.Pro1131Leu) c.3338C>T (p.Pro1113Leu) c.2645C>T (p.Pro882Leu) c.2558C>T (p.Pro853Leu) n.3834C>T | gnomAD v4 |
17 | g.39727873C>A | CA499890780 | ERBB2 | c.3597C>A (p.Pro1199=) c.3507C>A (p.Pro1169=) c.2769C>A (p.Pro923=) c.3552C>A (p.Pro1184=) c.*3387C>A (n.*3387C>A) c.*176C>A (n.*176C>A) n.3921C>A c.3735C>A (p.Pro1245=) c.3690C>A (p.Pro1230=) c.3645C>A (p.Pro1215=) c.3714C>A (p.Pro1238=) c.3699C>A (p.Pro1233=) c.3678C>A (p.Pro1226=) c.3672C>A (p.Pro1224=) c.3627C>A (p.Pro1209=) c.3618C>A (p.Pro1206=) c.3594C>A (p.Pro1198=) c.3588C>A (p.Pro1196=) c.3561C>A (p.Pro1187=) c.3555C>A (p.Pro1185=) c.3549C>A (p.Pro1183=) c.3510C>A (p.Pro1170=) c.3498C>A (p.Pro1166=) c.3441C>A (p.Pro1147=) c.3417C>A (p.Pro1139=) c.3411C>A (p.Pro1137=) c.3393C>A (p.Pro1131=) c.3339C>A (p.Pro1113=) c.2646C>A (p.Pro882=) c.2559C>A (p.Pro853=) n.3835C>A | dbSNP |
17 | g.39727873C>G | CA499890781 | ERBB2 | c.3597C>G (p.Pro1199=) c.3507C>G (p.Pro1169=) c.2769C>G (p.Pro923=) c.3552C>G (p.Pro1184=) c.*3387C>G (n.*3387C>G) c.*176C>G (n.*176C>G) n.3921C>G c.3735C>G (p.Pro1245=) c.3690C>G (p.Pro1230=) c.3645C>G (p.Pro1215=) c.3714C>G (p.Pro1238=) c.3699C>G (p.Pro1233=) c.3678C>G (p.Pro1226=) c.3672C>G (p.Pro1224=) c.3627C>G (p.Pro1209=) c.3618C>G (p.Pro1206=) c.3594C>G (p.Pro1198=) c.3588C>G (p.Pro1196=) c.3561C>G (p.Pro1187=) c.3555C>G (p.Pro1185=) c.3549C>G (p.Pro1183=) c.3510C>G (p.Pro1170=) c.3498C>G (p.Pro1166=) c.3441C>G (p.Pro1147=) c.3417C>G (p.Pro1139=) c.3411C>G (p.Pro1137=) c.3393C>G (p.Pro1131=) c.3339C>G (p.Pro1113=) c.2646C>G (p.Pro882=) c.2559C>G (p.Pro853=) n.3835C>G | dbSNP |
17 | g.39727873C>T | CA499890782 | ERBB2 | c.3597C>T (p.Pro1199=) c.3507C>T (p.Pro1169=) c.2769C>T (p.Pro923=) c.3552C>T (p.Pro1184=) c.*3387C>T (n.*3387C>T) c.*176C>T (n.*176C>T) n.3921C>T c.3735C>T (p.Pro1245=) c.3690C>T (p.Pro1230=) c.3645C>T (p.Pro1215=) c.3714C>T (p.Pro1238=) c.3699C>T (p.Pro1233=) c.3678C>T (p.Pro1226=) c.3672C>T (p.Pro1224=) c.3627C>T (p.Pro1209=) c.3618C>T (p.Pro1206=) c.3594C>T (p.Pro1198=) c.3588C>T (p.Pro1196=) c.3561C>T (p.Pro1187=) c.3555C>T (p.Pro1185=) c.3549C>T (p.Pro1183=) c.3510C>T (p.Pro1170=) c.3498C>T (p.Pro1166=) c.3441C>T (p.Pro1147=) c.3417C>T (p.Pro1139=) c.3411C>T (p.Pro1137=) c.3393C>T (p.Pro1131=) c.3339C>T (p.Pro1113=) c.2646C>T (p.Pro882=) c.2559C>T (p.Pro853=) n.3835C>T | dbSNP |
17 | g.39727874C>A | CA399313863 | ERBB2 | c.3598C>A (p.Gln1200Lys) c.3508C>A (p.Gln1170Lys) c.2770C>A (p.Gln924Lys) c.3553C>A (p.Gln1185Lys) c.*3388C>A (n.*3388C>A) c.*177C>A (n.*177C>A) n.3922C>A c.3736C>A (p.Gln1246Lys) c.3691C>A (p.Gln1231Lys) c.3646C>A (p.Gln1216Lys) c.3715C>A (p.Gln1239Lys) c.3700C>A (p.Gln1234Lys) c.3679C>A (p.Gln1227Lys) c.3673C>A (p.Gln1225Lys) c.3628C>A (p.Gln1210Lys) c.3619C>A (p.Gln1207Lys) c.3595C>A (p.Gln1199Lys) c.3589C>A (p.Gln1197Lys) c.3562C>A (p.Gln1188Lys) c.3556C>A (p.Gln1186Lys) c.3550C>A (p.Gln1184Lys) c.3511C>A (p.Gln1171Lys) c.3499C>A (p.Gln1167Lys) c.3442C>A (p.Gln1148Lys) c.3418C>A (p.Gln1140Lys) c.3412C>A (p.Gln1138Lys) c.3394C>A (p.Gln1132Lys) c.3340C>A (p.Gln1114Lys) c.2647C>A (p.Gln883Lys) c.2560C>A (p.Gln854Lys) n.3836C>A | dbSNP |
17 | g.39727874C>G | CA399313866 | ERBB2 | c.3598C>G (p.Gln1200Glu) c.3508C>G (p.Gln1170Glu) c.2770C>G (p.Gln924Glu) c.3553C>G (p.Gln1185Glu) c.*3388C>G (n.*3388C>G) c.*177C>G (n.*177C>G) n.3922C>G c.3736C>G (p.Gln1246Glu) c.3691C>G (p.Gln1231Glu) c.3646C>G (p.Gln1216Glu) c.3715C>G (p.Gln1239Glu) c.3700C>G (p.Gln1234Glu) c.3679C>G (p.Gln1227Glu) c.3673C>G (p.Gln1225Glu) c.3628C>G (p.Gln1210Glu) c.3619C>G (p.Gln1207Glu) c.3595C>G (p.Gln1199Glu) c.3589C>G (p.Gln1197Glu) c.3562C>G (p.Gln1188Glu) c.3556C>G (p.Gln1186Glu) c.3550C>G (p.Gln1184Glu) c.3511C>G (p.Gln1171Glu) c.3499C>G (p.Gln1167Glu) c.3442C>G (p.Gln1148Glu) c.3418C>G (p.Gln1140Glu) c.3412C>G (p.Gln1138Glu) c.3394C>G (p.Gln1132Glu) c.3340C>G (p.Gln1114Glu) c.2647C>G (p.Gln883Glu) c.2560C>G (p.Gln854Glu) n.3836C>G | dbSNP |
17 | g.39727874C>T | CA399313870 | ERBB2 | c.3598C>T (p.Gln1200Ter) c.3508C>T (p.Gln1170Ter) c.2770C>T (p.Gln924Ter) c.3553C>T (p.Gln1185Ter) c.*3388C>T (n.*3388C>T) c.*177C>T (n.*177C>T) n.3922C>T c.3736C>T (p.Gln1246Ter) c.3691C>T (p.Gln1231Ter) c.3646C>T (p.Gln1216Ter) c.3715C>T (p.Gln1239Ter) c.3700C>T (p.Gln1234Ter) c.3679C>T (p.Gln1227Ter) c.3673C>T (p.Gln1225Ter) c.3628C>T (p.Gln1210Ter) c.3619C>T (p.Gln1207Ter) c.3595C>T (p.Gln1199Ter) c.3589C>T (p.Gln1197Ter) c.3562C>T (p.Gln1188Ter) c.3556C>T (p.Gln1186Ter) c.3550C>T (p.Gln1184Ter) c.3511C>T (p.Gln1171Ter) c.3499C>T (p.Gln1167Ter) c.3442C>T (p.Gln1148Ter) c.3418C>T (p.Gln1140Ter) c.3412C>T (p.Gln1138Ter) c.3394C>T (p.Gln1132Ter) c.3340C>T (p.Gln1114Ter) c.2647C>T (p.Gln883Ter) c.2560C>T (p.Gln854Ter) n.3836C>T | dbSNP |
17 | g.39727875A>C | CA399313879 | ERBB2 | c.3599A>C (p.Gln1200Pro) c.3509A>C (p.Gln1170Pro) c.2771A>C (p.Gln924Pro) c.3554A>C (p.Gln1185Pro) c.*3389A>C (n.*3389A>C) c.*178A>C (n.*178A>C) n.3923A>C c.3737A>C (p.Gln1246Pro) c.3692A>C (p.Gln1231Pro) c.3647A>C (p.Gln1216Pro) c.3716A>C (p.Gln1239Pro) c.3701A>C (p.Gln1234Pro) c.3680A>C (p.Gln1227Pro) c.3674A>C (p.Gln1225Pro) c.3629A>C (p.Gln1210Pro) c.3620A>C (p.Gln1207Pro) c.3596A>C (p.Gln1199Pro) c.3590A>C (p.Gln1197Pro) c.3563A>C (p.Gln1188Pro) c.3557A>C (p.Gln1186Pro) c.3551A>C (p.Gln1184Pro) c.3512A>C (p.Gln1171Pro) c.3500A>C (p.Gln1167Pro) c.3443A>C (p.Gln1148Pro) c.3419A>C (p.Gln1140Pro) c.3413A>C (p.Gln1138Pro) c.3395A>C (p.Gln1132Pro) c.3341A>C (p.Gln1114Pro) c.2648A>C (p.Gln883Pro) c.2561A>C (p.Gln854Pro) n.3837A>C | |
17 | g.39727875A>G | CA399313874 | ERBB2 | c.3599A>G (p.Gln1200Arg) c.3509A>G (p.Gln1170Arg) c.2771A>G (p.Gln924Arg) c.3554A>G (p.Gln1185Arg) c.*3389A>G (n.*3389A>G) c.*178A>G (n.*178A>G) n.3923A>G c.3737A>G (p.Gln1246Arg) c.3692A>G (p.Gln1231Arg) c.3647A>G (p.Gln1216Arg) c.3716A>G (p.Gln1239Arg) c.3701A>G (p.Gln1234Arg) c.3680A>G (p.Gln1227Arg) c.3674A>G (p.Gln1225Arg) c.3629A>G (p.Gln1210Arg) c.3620A>G (p.Gln1207Arg) c.3596A>G (p.Gln1199Arg) c.3590A>G (p.Gln1197Arg) c.3563A>G (p.Gln1188Arg) c.3557A>G (p.Gln1186Arg) c.3551A>G (p.Gln1184Arg) c.3512A>G (p.Gln1171Arg) c.3500A>G (p.Gln1167Arg) c.3443A>G (p.Gln1148Arg) c.3419A>G (p.Gln1140Arg) c.3413A>G (p.Gln1138Arg) c.3395A>G (p.Gln1132Arg) c.3341A>G (p.Gln1114Arg) c.2648A>G (p.Gln883Arg) c.2561A>G (p.Gln854Arg) n.3837A>G | |
17 | g.39727875A>T | CA399313877 | ERBB2 | c.3599A>T (p.Gln1200Leu) c.3509A>T (p.Gln1170Leu) c.2771A>T (p.Gln924Leu) c.3554A>T (p.Gln1185Leu) c.*3389A>T (n.*3389A>T) c.*178A>T (n.*178A>T) n.3923A>T c.3737A>T (p.Gln1246Leu) c.3692A>T (p.Gln1231Leu) c.3647A>T (p.Gln1216Leu) c.3716A>T (p.Gln1239Leu) c.3701A>T (p.Gln1234Leu) c.3680A>T (p.Gln1227Leu) c.3674A>T (p.Gln1225Leu) c.3629A>T (p.Gln1210Leu) c.3620A>T (p.Gln1207Leu) c.3596A>T (p.Gln1199Leu) c.3590A>T (p.Gln1197Leu) c.3563A>T (p.Gln1188Leu) c.3557A>T (p.Gln1186Leu) c.3551A>T (p.Gln1184Leu) c.3512A>T (p.Gln1171Leu) c.3500A>T (p.Gln1167Leu) c.3443A>T (p.Gln1148Leu) c.3419A>T (p.Gln1140Leu) c.3413A>T (p.Gln1138Leu) c.3395A>T (p.Gln1132Leu) c.3341A>T (p.Gln1114Leu) c.2648A>T (p.Gln883Leu) c.2561A>T (p.Gln854Leu) n.3837A>T | |
17 | g.39727876G>A | CA499890786 | ERBB2 | c.3600G>A (p.Gln1200=) c.3510G>A (p.Gln1170=) c.2772G>A (p.Gln924=) c.3555G>A (p.Gln1185=) c.*3390G>A (n.*3390G>A) c.*179G>A (n.*179G>A) n.3924G>A c.3738G>A (p.Gln1246=) c.3693G>A (p.Gln1231=) c.3648G>A (p.Gln1216=) c.3717G>A (p.Gln1239=) c.3702G>A (p.Gln1234=) c.3681G>A (p.Gln1227=) c.3675G>A (p.Gln1225=) c.3630G>A (p.Gln1210=) c.3621G>A (p.Gln1207=) c.3597G>A (p.Gln1199=) c.3591G>A (p.Gln1197=) c.3564G>A (p.Gln1188=) c.3558G>A (p.Gln1186=) c.3552G>A (p.Gln1184=) c.3513G>A (p.Gln1171=) c.3501G>A (p.Gln1167=) c.3444G>A (p.Gln1148=) c.3420G>A (p.Gln1140=) c.3414G>A (p.Gln1138=) c.3396G>A (p.Gln1132=) c.3342G>A (p.Gln1114=) c.2649G>A (p.Gln883=) c.2562G>A (p.Gln854=) n.3838G>A | dbSNP gnomAD v4 |
17 | g.39727876G>C | CA399313883 | ERBB2 | c.3600G>C (p.Gln1200His) c.3510G>C (p.Gln1170His) c.2772G>C (p.Gln924His) c.3555G>C (p.Gln1185His) c.*3390G>C (n.*3390G>C) c.*179G>C (n.*179G>C) n.3924G>C c.3738G>C (p.Gln1246His) c.3693G>C (p.Gln1231His) c.3648G>C (p.Gln1216His) c.3717G>C (p.Gln1239His) c.3702G>C (p.Gln1234His) c.3681G>C (p.Gln1227His) c.3675G>C (p.Gln1225His) c.3630G>C (p.Gln1210His) c.3621G>C (p.Gln1207His) c.3597G>C (p.Gln1199His) c.3591G>C (p.Gln1197His) c.3564G>C (p.Gln1188His) c.3558G>C (p.Gln1186His) c.3552G>C (p.Gln1184His) c.3513G>C (p.Gln1171His) c.3501G>C (p.Gln1167His) c.3444G>C (p.Gln1148His) c.3420G>C (p.Gln1140His) c.3414G>C (p.Gln1138His) c.3396G>C (p.Gln1132His) c.3342G>C (p.Gln1114His) c.2649G>C (p.Gln883His) c.2562G>C (p.Gln854His) n.3838G>C | dbSNP gnomAD v4 |
17 | g.39727876G>T | CA399313885 | ERBB2 | c.3600G>T (p.Gln1200His) c.3510G>T (p.Gln1170His) c.2772G>T (p.Gln924His) c.3555G>T (p.Gln1185His) c.*3390G>T (n.*3390G>T) c.*179G>T (n.*179G>T) n.3924G>T c.3738G>T (p.Gln1246His) c.3693G>T (p.Gln1231His) c.3648G>T (p.Gln1216His) c.3717G>T (p.Gln1239His) c.3702G>T (p.Gln1234His) c.3681G>T (p.Gln1227His) c.3675G>T (p.Gln1225His) c.3630G>T (p.Gln1210His) c.3621G>T (p.Gln1207His) c.3597G>T (p.Gln1199His) c.3591G>T (p.Gln1197His) c.3564G>T (p.Gln1188His) c.3558G>T (p.Gln1186His) c.3552G>T (p.Gln1184His) c.3513G>T (p.Gln1171His) c.3501G>T (p.Gln1167His) c.3444G>T (p.Gln1148His) c.3420G>T (p.Gln1140His) c.3414G>T (p.Gln1138His) c.3396G>T (p.Gln1132His) c.3342G>T (p.Gln1114His) c.2649G>T (p.Gln883His) c.2562G>T (p.Gln854His) n.3838G>T | dbSNP |
17 | g.39727876_39727879delinsGGGA | CA2259229300 | ERBB2 | c.3600_3603delinsGGGA (p.Gln1200=) c.3510_3513delinsGGGA (p.Gln1170=) c.2772_2775delinsGGGA (p.Gln924=) c.3555_3558delinsGGGA (p.Gln1185=) c.*3390_*3393delinsGGGA (n.*3390_*3393delinsGGGA) c.*179_*182delinsGGGA (n.*179_*182delinsGGGA) n.3924_3927delinsGGGA c.3738_3741delinsGGGA (p.Gln1246=) c.3693_3696delinsGGGA (p.Gln1231=) c.3648_3651delinsGGGA (p.Gln1216=) c.3717_3720delinsGGGA (p.Gln1239=) c.3702_3705delinsGGGA (p.Gln1234=) c.3681_3684delinsGGGA (p.Gln1227=) c.3675_3678delinsGGGA (p.Gln1225=) c.3630_3633delinsGGGA (p.Gln1210=) c.3621_3624delinsGGGA (p.Gln1207=) c.3597_3600delinsGGGA (p.Gln1199=) c.3591_3594delinsGGGA (p.Gln1197=) c.3564_3567delinsGGGA (p.Gln1188=) c.3558_3561delinsGGGA (p.Gln1186=) c.3552_3555delinsGGGA (p.Gln1184=) c.3513_3516delinsGGGA (p.Gln1171=) c.3501_3504delinsGGGA (p.Gln1167=) c.3444_3447delinsGGGA (p.Gln1148=) c.3420_3423delinsGGGA (p.Gln1140=) c.3414_3417delinsGGGA (p.Gln1138=) c.3396_3399delinsGGGA (p.Gln1132=) c.3342_3345delinsGGGA (p.Gln1114=) c.2649_2652delinsGGGA (p.Gln883=) c.2562_2565delinsGGGA (p.Gln854=) n.3838_3841delinsGGGA | |
17 | g.39727877G>A | CA399313889 | ERBB2 | c.3601G>A (p.Gly1201Arg) c.3511G>A (p.Gly1171Arg) c.2773G>A (p.Gly925Arg) c.3556G>A (p.Gly1186Arg) c.*3391G>A (n.*3391G>A) c.*180G>A (n.*180G>A) n.3925G>A c.3739G>A (p.Gly1247Arg) c.3694G>A (p.Gly1232Arg) c.3649G>A (p.Gly1217Arg) c.3718G>A (p.Gly1240Arg) c.3703G>A (p.Gly1235Arg) c.3682G>A (p.Gly1228Arg) c.3676G>A (p.Gly1226Arg) c.3631G>A (p.Gly1211Arg) c.3622G>A (p.Gly1208Arg) c.3598G>A (p.Gly1200Arg) c.3592G>A (p.Gly1198Arg) c.3565G>A (p.Gly1189Arg) c.3559G>A (p.Gly1187Arg) c.3553G>A (p.Gly1185Arg) c.3514G>A (p.Gly1172Arg) c.3502G>A (p.Gly1168Arg) c.3445G>A (p.Gly1149Arg) c.3421G>A (p.Gly1141Arg) c.3415G>A (p.Gly1139Arg) c.3397G>A (p.Gly1133Arg) c.3343G>A (p.Gly1115Arg) c.2650G>A (p.Gly884Arg) c.2563G>A (p.Gly855Arg) n.3839G>A | dbSNP gnomAD v4 |
17 | g.39727877G>C | CA399313891 | ERBB2 | c.3601G>C (p.Gly1201Arg) c.3511G>C (p.Gly1171Arg) c.2773G>C (p.Gly925Arg) c.3556G>C (p.Gly1186Arg) c.*3391G>C (n.*3391G>C) c.*180G>C (n.*180G>C) n.3925G>C c.3739G>C (p.Gly1247Arg) c.3694G>C (p.Gly1232Arg) c.3649G>C (p.Gly1217Arg) c.3718G>C (p.Gly1240Arg) c.3703G>C (p.Gly1235Arg) c.3682G>C (p.Gly1228Arg) c.3676G>C (p.Gly1226Arg) c.3631G>C (p.Gly1211Arg) c.3622G>C (p.Gly1208Arg) c.3598G>C (p.Gly1200Arg) c.3592G>C (p.Gly1198Arg) c.3565G>C (p.Gly1189Arg) c.3559G>C (p.Gly1187Arg) c.3553G>C (p.Gly1185Arg) c.3514G>C (p.Gly1172Arg) c.3502G>C (p.Gly1168Arg) c.3445G>C (p.Gly1149Arg) c.3421G>C (p.Gly1141Arg) c.3415G>C (p.Gly1139Arg) c.3397G>C (p.Gly1133Arg) c.3343G>C (p.Gly1115Arg) c.2650G>C (p.Gly884Arg) c.2563G>C (p.Gly855Arg) n.3839G>C | dbSNP |
17 | g.39727877G>T | CA399313894 | ERBB2 | c.3601G>T (p.Gly1201Ter) c.3511G>T (p.Gly1171Ter) c.2773G>T (p.Gly925Ter) c.3556G>T (p.Gly1186Ter) c.*3391G>T (n.*3391G>T) c.*180G>T (n.*180G>T) n.3925G>T c.3739G>T (p.Gly1247Ter) c.3694G>T (p.Gly1232Ter) c.3649G>T (p.Gly1217Ter) c.3718G>T (p.Gly1240Ter) c.3703G>T (p.Gly1235Ter) c.3682G>T (p.Gly1228Ter) c.3676G>T (p.Gly1226Ter) c.3631G>T (p.Gly1211Ter) c.3622G>T (p.Gly1208Ter) c.3598G>T (p.Gly1200Ter) c.3592G>T (p.Gly1198Ter) c.3565G>T (p.Gly1189Ter) c.3559G>T (p.Gly1187Ter) c.3553G>T (p.Gly1185Ter) c.3514G>T (p.Gly1172Ter) c.3502G>T (p.Gly1168Ter) c.3445G>T (p.Gly1149Ter) c.3421G>T (p.Gly1141Ter) c.3415G>T (p.Gly1139Ter) c.3397G>T (p.Gly1133Ter) c.3343G>T (p.Gly1115Ter) c.2650G>T (p.Gly884Ter) c.2563G>T (p.Gly855Ter) n.3839G>T | dbSNP |
17 | g.39727881_39727883del | CA771864457 | ERBB2 | c.3605_3607del (p.Gly1202del) c.3515_3517del (p.Gly1172del) c.2777_2779del (p.Gly926del) c.3560_3562del (p.Gly1187del) c.*3395_*3397del (n.*3395_*3397del) c.*184_*186del (n.*184_*186del) n.3929_3931del c.3743_3745del (p.Gly1248del) c.3698_3700del (p.Gly1233del) c.3653_3655del (p.Gly1218del) c.3722_3724del (p.Gly1241del) c.3707_3709del (p.Gly1236del) c.3686_3688del (p.Gly1229del) c.3680_3682del (p.Gly1227del) c.3635_3637del (p.Gly1212del) c.3626_3628del (p.Gly1209del) c.3602_3604del (p.Gly1201del) c.3596_3598del (p.Gly1199del) c.3569_3571del (p.Gly1190del) c.3563_3565del (p.Gly1188del) c.3557_3559del (p.Gly1186del) c.3518_3520del (p.Gly1173del) c.3506_3508del (p.Gly1169del) c.3449_3451del (p.Gly1150del) c.3425_3427del (p.Gly1142del) c.3419_3421del (p.Gly1140del) c.3401_3403del (p.Gly1134del) c.3347_3349del (p.Gly1116del) c.2654_2656del (p.Gly885del) c.2567_2569del (p.Gly856del) n.3843_3845del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727878G>A | CA399313896 | ERBB2 | c.3602G>A (p.Gly1201Glu) c.3512G>A (p.Gly1171Glu) c.2774G>A (p.Gly925Glu) c.3557G>A (p.Gly1186Glu) c.*3392G>A (n.*3392G>A) c.*181G>A (n.*181G>A) n.3926G>A c.3740G>A (p.Gly1247Glu) c.3695G>A (p.Gly1232Glu) c.3650G>A (p.Gly1217Glu) c.3719G>A (p.Gly1240Glu) c.3704G>A (p.Gly1235Glu) c.3683G>A (p.Gly1228Glu) c.3677G>A (p.Gly1226Glu) c.3632G>A (p.Gly1211Glu) c.3623G>A (p.Gly1208Glu) c.3599G>A (p.Gly1200Glu) c.3593G>A (p.Gly1198Glu) c.3566G>A (p.Gly1189Glu) c.3560G>A (p.Gly1187Glu) c.3554G>A (p.Gly1185Glu) c.3515G>A (p.Gly1172Glu) c.3503G>A (p.Gly1168Glu) c.3446G>A (p.Gly1149Glu) c.3422G>A (p.Gly1141Glu) c.3416G>A (p.Gly1139Glu) c.3398G>A (p.Gly1133Glu) c.3344G>A (p.Gly1115Glu) c.2651G>A (p.Gly884Glu) c.2564G>A (p.Gly855Glu) n.3840G>A | dbSNP |
17 | g.39727878G>C | CA399313901 | ERBB2 | c.3602G>C (p.Gly1201Ala) c.3512G>C (p.Gly1171Ala) c.2774G>C (p.Gly925Ala) c.3557G>C (p.Gly1186Ala) c.*3392G>C (n.*3392G>C) c.*181G>C (n.*181G>C) n.3926G>C c.3740G>C (p.Gly1247Ala) c.3695G>C (p.Gly1232Ala) c.3650G>C (p.Gly1217Ala) c.3719G>C (p.Gly1240Ala) c.3704G>C (p.Gly1235Ala) c.3683G>C (p.Gly1228Ala) c.3677G>C (p.Gly1226Ala) c.3632G>C (p.Gly1211Ala) c.3623G>C (p.Gly1208Ala) c.3599G>C (p.Gly1200Ala) c.3593G>C (p.Gly1198Ala) c.3566G>C (p.Gly1189Ala) c.3560G>C (p.Gly1187Ala) c.3554G>C (p.Gly1185Ala) c.3515G>C (p.Gly1172Ala) c.3503G>C (p.Gly1168Ala) c.3446G>C (p.Gly1149Ala) c.3422G>C (p.Gly1141Ala) c.3416G>C (p.Gly1139Ala) c.3398G>C (p.Gly1133Ala) c.3344G>C (p.Gly1115Ala) c.2651G>C (p.Gly884Ala) c.2564G>C (p.Gly855Ala) n.3840G>C | dbSNP |
17 | g.39727878G>T | CA399313899 | ERBB2 | c.3602G>T (p.Gly1201Val) c.3512G>T (p.Gly1171Val) c.2774G>T (p.Gly925Val) c.3557G>T (p.Gly1186Val) c.*3392G>T (n.*3392G>T) c.*181G>T (n.*181G>T) n.3926G>T c.3740G>T (p.Gly1247Val) c.3695G>T (p.Gly1232Val) c.3650G>T (p.Gly1217Val) c.3719G>T (p.Gly1240Val) c.3704G>T (p.Gly1235Val) c.3683G>T (p.Gly1228Val) c.3677G>T (p.Gly1226Val) c.3632G>T (p.Gly1211Val) c.3623G>T (p.Gly1208Val) c.3599G>T (p.Gly1200Val) c.3593G>T (p.Gly1198Val) c.3566G>T (p.Gly1189Val) c.3560G>T (p.Gly1187Val) c.3554G>T (p.Gly1185Val) c.3515G>T (p.Gly1172Val) c.3503G>T (p.Gly1168Val) c.3446G>T (p.Gly1149Val) c.3422G>T (p.Gly1141Val) c.3416G>T (p.Gly1139Val) c.3398G>T (p.Gly1133Val) c.3344G>T (p.Gly1115Val) c.2651G>T (p.Gly884Val) c.2564G>T (p.Gly855Val) n.3840G>T | |
17 | g.39727879A>C | CA499890787 | ERBB2 | c.3603A>C (p.Gly1201=) c.3513A>C (p.Gly1171=) c.2775A>C (p.Gly925=) c.3558A>C (p.Gly1186=) c.*3393A>C (n.*3393A>C) c.*182A>C (n.*182A>C) n.3927A>C c.3741A>C (p.Gly1247=) c.3696A>C (p.Gly1232=) c.3651A>C (p.Gly1217=) c.3720A>C (p.Gly1240=) c.3705A>C (p.Gly1235=) c.3684A>C (p.Gly1228=) c.3678A>C (p.Gly1226=) c.3633A>C (p.Gly1211=) c.3624A>C (p.Gly1208=) c.3600A>C (p.Gly1200=) c.3594A>C (p.Gly1198=) c.3567A>C (p.Gly1189=) c.3561A>C (p.Gly1187=) c.3555A>C (p.Gly1185=) c.3516A>C (p.Gly1172=) c.3504A>C (p.Gly1168=) c.3447A>C (p.Gly1149=) c.3423A>C (p.Gly1141=) c.3417A>C (p.Gly1139=) c.3399A>C (p.Gly1133=) c.3345A>C (p.Gly1115=) c.2652A>C (p.Gly884=) c.2565A>C (p.Gly855=) n.3841A>C | |
17 | g.39727879A>G | CA499890788 | ERBB2 | c.3603A>G (p.Gly1201=) c.3513A>G (p.Gly1171=) c.2775A>G (p.Gly925=) c.3558A>G (p.Gly1186=) c.*3393A>G (n.*3393A>G) c.*182A>G (n.*182A>G) n.3927A>G c.3741A>G (p.Gly1247=) c.3696A>G (p.Gly1232=) c.3651A>G (p.Gly1217=) c.3720A>G (p.Gly1240=) c.3705A>G (p.Gly1235=) c.3684A>G (p.Gly1228=) c.3678A>G (p.Gly1226=) c.3633A>G (p.Gly1211=) c.3624A>G (p.Gly1208=) c.3600A>G (p.Gly1200=) c.3594A>G (p.Gly1198=) c.3567A>G (p.Gly1189=) c.3561A>G (p.Gly1187=) c.3555A>G (p.Gly1185=) c.3516A>G (p.Gly1172=) c.3504A>G (p.Gly1168=) c.3447A>G (p.Gly1149=) c.3423A>G (p.Gly1141=) c.3417A>G (p.Gly1139=) c.3399A>G (p.Gly1133=) c.3345A>G (p.Gly1115=) c.2652A>G (p.Gly884=) c.2565A>G (p.Gly855=) n.3841A>G | |
17 | g.39727879A>T | CA499890789 | ERBB2 | c.3603A>T (p.Gly1201=) c.3513A>T (p.Gly1171=) c.2775A>T (p.Gly925=) c.3558A>T (p.Gly1186=) c.*3393A>T (n.*3393A>T) c.*182A>T (n.*182A>T) n.3927A>T c.3741A>T (p.Gly1247=) c.3696A>T (p.Gly1232=) c.3651A>T (p.Gly1217=) c.3720A>T (p.Gly1240=) c.3705A>T (p.Gly1235=) c.3684A>T (p.Gly1228=) c.3678A>T (p.Gly1226=) c.3633A>T (p.Gly1211=) c.3624A>T (p.Gly1208=) c.3600A>T (p.Gly1200=) c.3594A>T (p.Gly1198=) c.3567A>T (p.Gly1189=) c.3561A>T (p.Gly1187=) c.3555A>T (p.Gly1185=) c.3516A>T (p.Gly1172=) c.3504A>T (p.Gly1168=) c.3447A>T (p.Gly1149=) c.3423A>T (p.Gly1141=) c.3417A>T (p.Gly1139=) c.3399A>T (p.Gly1133=) c.3345A>T (p.Gly1115=) c.2652A>T (p.Gly884=) c.2565A>T (p.Gly855=) n.3841A>T | |
17 | g.39727880G>A | CA399313903 | ERBB2 | c.3604G>A (p.Gly1202Arg) c.3514G>A (p.Gly1172Arg) c.2776G>A (p.Gly926Arg) c.3559G>A (p.Gly1187Arg) c.*3394G>A (n.*3394G>A) c.*183G>A (n.*183G>A) n.3928G>A c.3742G>A (p.Gly1248Arg) c.3697G>A (p.Gly1233Arg) c.3652G>A (p.Gly1218Arg) c.3721G>A (p.Gly1241Arg) c.3706G>A (p.Gly1236Arg) c.3685G>A (p.Gly1229Arg) c.3679G>A (p.Gly1227Arg) c.3634G>A (p.Gly1212Arg) c.3625G>A (p.Gly1209Arg) c.3601G>A (p.Gly1201Arg) c.3595G>A (p.Gly1199Arg) c.3568G>A (p.Gly1190Arg) c.3562G>A (p.Gly1188Arg) c.3556G>A (p.Gly1186Arg) c.3517G>A (p.Gly1173Arg) c.3505G>A (p.Gly1169Arg) c.3448G>A (p.Gly1150Arg) c.3424G>A (p.Gly1142Arg) c.3418G>A (p.Gly1140Arg) c.3400G>A (p.Gly1134Arg) c.3346G>A (p.Gly1116Arg) c.2653G>A (p.Gly885Arg) c.2566G>A (p.Gly856Arg) n.3842G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727880G>C | CA399313905 | ERBB2 | c.3604G>C (p.Gly1202Arg) c.3514G>C (p.Gly1172Arg) c.2776G>C (p.Gly926Arg) c.3559G>C (p.Gly1187Arg) c.*3394G>C (n.*3394G>C) c.*183G>C (n.*183G>C) n.3928G>C c.3742G>C (p.Gly1248Arg) c.3697G>C (p.Gly1233Arg) c.3652G>C (p.Gly1218Arg) c.3721G>C (p.Gly1241Arg) c.3706G>C (p.Gly1236Arg) c.3685G>C (p.Gly1229Arg) c.3679G>C (p.Gly1227Arg) c.3634G>C (p.Gly1212Arg) c.3625G>C (p.Gly1209Arg) c.3601G>C (p.Gly1201Arg) c.3595G>C (p.Gly1199Arg) c.3568G>C (p.Gly1190Arg) c.3562G>C (p.Gly1188Arg) c.3556G>C (p.Gly1186Arg) c.3517G>C (p.Gly1173Arg) c.3505G>C (p.Gly1169Arg) c.3448G>C (p.Gly1150Arg) c.3424G>C (p.Gly1142Arg) c.3418G>C (p.Gly1140Arg) c.3400G>C (p.Gly1134Arg) c.3346G>C (p.Gly1116Arg) c.2653G>C (p.Gly885Arg) c.2566G>C (p.Gly856Arg) n.3842G>C | dbSNP |
17 | g.39727880G= | CA2259229301 | ERBB2 | c.3604G= (p.Gly1202=) c.3514G= (p.Gly1172=) c.2776G= (p.Gly926=) c.3559G= (p.Gly1187=) c.*3394G= (n.*3394G=) c.*183G= (n.*183G=) n.3928G= c.3742G= (p.Gly1248=) c.3697G= (p.Gly1233=) c.3652G= (p.Gly1218=) c.3721G= (p.Gly1241=) c.3706G= (p.Gly1236=) c.3685G= (p.Gly1229=) c.3679G= (p.Gly1227=) c.3634G= (p.Gly1212=) c.3625G= (p.Gly1209=) c.3601G= (p.Gly1201=) c.3595G= (p.Gly1199=) c.3568G= (p.Gly1190=) c.3562G= (p.Gly1188=) c.3556G= (p.Gly1186=) c.3517G= (p.Gly1173=) c.3505G= (p.Gly1169=) c.3448G= (p.Gly1150=) c.3424G= (p.Gly1142=) c.3418G= (p.Gly1140=) c.3400G= (p.Gly1134=) c.3346G= (p.Gly1116=) c.2653G= (p.Gly885=) c.2566G= (p.Gly856=) n.3842G= | |
17 | g.39727880G>T | CA399313907 | ERBB2 | c.3604G>T (p.Gly1202Ter) c.3514G>T (p.Gly1172Ter) c.2776G>T (p.Gly926Ter) c.3559G>T (p.Gly1187Ter) c.*3394G>T (n.*3394G>T) c.*183G>T (n.*183G>T) n.3928G>T c.3742G>T (p.Gly1248Ter) c.3697G>T (p.Gly1233Ter) c.3652G>T (p.Gly1218Ter) c.3721G>T (p.Gly1241Ter) c.3706G>T (p.Gly1236Ter) c.3685G>T (p.Gly1229Ter) c.3679G>T (p.Gly1227Ter) c.3634G>T (p.Gly1212Ter) c.3625G>T (p.Gly1209Ter) c.3601G>T (p.Gly1201Ter) c.3595G>T (p.Gly1199Ter) c.3568G>T (p.Gly1190Ter) c.3562G>T (p.Gly1188Ter) c.3556G>T (p.Gly1186Ter) c.3517G>T (p.Gly1173Ter) c.3505G>T (p.Gly1169Ter) c.3448G>T (p.Gly1150Ter) c.3424G>T (p.Gly1142Ter) c.3418G>T (p.Gly1140Ter) c.3400G>T (p.Gly1134Ter) c.3346G>T (p.Gly1116Ter) c.2653G>T (p.Gly885Ter) c.2566G>T (p.Gly856Ter) n.3842G>T | dbSNP |
17 | g.39727881G>A | CA399313911 | ERBB2 | c.3605G>A (p.Gly1202Glu) c.3515G>A (p.Gly1172Glu) c.2777G>A (p.Gly926Glu) c.3560G>A (p.Gly1187Glu) c.*3395G>A (n.*3395G>A) c.*184G>A (n.*184G>A) n.3929G>A c.3743G>A (p.Gly1248Glu) c.3698G>A (p.Gly1233Glu) c.3653G>A (p.Gly1218Glu) c.3722G>A (p.Gly1241Glu) c.3707G>A (p.Gly1236Glu) c.3686G>A (p.Gly1229Glu) c.3680G>A (p.Gly1227Glu) c.3635G>A (p.Gly1212Glu) c.3626G>A (p.Gly1209Glu) c.3602G>A (p.Gly1201Glu) c.3596G>A (p.Gly1199Glu) c.3569G>A (p.Gly1190Glu) c.3563G>A (p.Gly1188Glu) c.3557G>A (p.Gly1186Glu) c.3518G>A (p.Gly1173Glu) c.3506G>A (p.Gly1169Glu) c.3449G>A (p.Gly1150Glu) c.3425G>A (p.Gly1142Glu) c.3419G>A (p.Gly1140Glu) c.3401G>A (p.Gly1134Glu) c.3347G>A (p.Gly1116Glu) c.2654G>A (p.Gly885Glu) c.2567G>A (p.Gly856Glu) n.3843G>A | dbSNP |
17 | g.39727881G>C | CA399313918 | ERBB2 | c.3605G>C (p.Gly1202Ala) c.3515G>C (p.Gly1172Ala) c.2777G>C (p.Gly926Ala) c.3560G>C (p.Gly1187Ala) c.*3395G>C (n.*3395G>C) c.*184G>C (n.*184G>C) n.3929G>C c.3743G>C (p.Gly1248Ala) c.3698G>C (p.Gly1233Ala) c.3653G>C (p.Gly1218Ala) c.3722G>C (p.Gly1241Ala) c.3707G>C (p.Gly1236Ala) c.3686G>C (p.Gly1229Ala) c.3680G>C (p.Gly1227Ala) c.3635G>C (p.Gly1212Ala) c.3626G>C (p.Gly1209Ala) c.3602G>C (p.Gly1201Ala) c.3596G>C (p.Gly1199Ala) c.3569G>C (p.Gly1190Ala) c.3563G>C (p.Gly1188Ala) c.3557G>C (p.Gly1186Ala) c.3518G>C (p.Gly1173Ala) c.3506G>C (p.Gly1169Ala) c.3449G>C (p.Gly1150Ala) c.3425G>C (p.Gly1142Ala) c.3419G>C (p.Gly1140Ala) c.3401G>C (p.Gly1134Ala) c.3347G>C (p.Gly1116Ala) c.2654G>C (p.Gly885Ala) c.2567G>C (p.Gly856Ala) n.3843G>C | dbSNP |
17 | g.39727881G>T | CA399313921 | ERBB2 | c.3605G>T (p.Gly1202Val) c.3515G>T (p.Gly1172Val) c.2777G>T (p.Gly926Val) c.3560G>T (p.Gly1187Val) c.*3395G>T (n.*3395G>T) c.*184G>T (n.*184G>T) n.3929G>T c.3743G>T (p.Gly1248Val) c.3698G>T (p.Gly1233Val) c.3653G>T (p.Gly1218Val) c.3722G>T (p.Gly1241Val) c.3707G>T (p.Gly1236Val) c.3686G>T (p.Gly1229Val) c.3680G>T (p.Gly1227Val) c.3635G>T (p.Gly1212Val) c.3626G>T (p.Gly1209Val) c.3602G>T (p.Gly1201Val) c.3596G>T (p.Gly1199Val) c.3569G>T (p.Gly1190Val) c.3563G>T (p.Gly1188Val) c.3557G>T (p.Gly1186Val) c.3518G>T (p.Gly1173Val) c.3506G>T (p.Gly1169Val) c.3449G>T (p.Gly1150Val) c.3425G>T (p.Gly1142Val) c.3419G>T (p.Gly1140Val) c.3401G>T (p.Gly1134Val) c.3347G>T (p.Gly1116Val) c.2654G>T (p.Gly885Val) c.2567G>T (p.Gly856Val) n.3843G>T | |
17 | g.39727882A>C | CA499890793 | ERBB2 | c.3606A>C (p.Gly1202=) c.3516A>C (p.Gly1172=) c.2778A>C (p.Gly926=) c.3561A>C (p.Gly1187=) c.*3396A>C (n.*3396A>C) c.*185A>C (n.*185A>C) n.3930A>C c.3744A>C (p.Gly1248=) c.3699A>C (p.Gly1233=) c.3654A>C (p.Gly1218=) c.3723A>C (p.Gly1241=) c.3708A>C (p.Gly1236=) c.3687A>C (p.Gly1229=) c.3681A>C (p.Gly1227=) c.3636A>C (p.Gly1212=) c.3627A>C (p.Gly1209=) c.3603A>C (p.Gly1201=) c.3597A>C (p.Gly1199=) c.3570A>C (p.Gly1190=) c.3564A>C (p.Gly1188=) c.3558A>C (p.Gly1186=) c.3519A>C (p.Gly1173=) c.3507A>C (p.Gly1169=) c.3450A>C (p.Gly1150=) c.3426A>C (p.Gly1142=) c.3420A>C (p.Gly1140=) c.3402A>C (p.Gly1134=) c.3348A>C (p.Gly1116=) c.2655A>C (p.Gly885=) c.2568A>C (p.Gly856=) n.3844A>C | |
17 | g.39727882A>G | CA499890794 | ERBB2 | c.3606A>G (p.Gly1202=) c.3516A>G (p.Gly1172=) c.2778A>G (p.Gly926=) c.3561A>G (p.Gly1187=) c.*3396A>G (n.*3396A>G) c.*185A>G (n.*185A>G) n.3930A>G c.3744A>G (p.Gly1248=) c.3699A>G (p.Gly1233=) c.3654A>G (p.Gly1218=) c.3723A>G (p.Gly1241=) c.3708A>G (p.Gly1236=) c.3687A>G (p.Gly1229=) c.3681A>G (p.Gly1227=) c.3636A>G (p.Gly1212=) c.3627A>G (p.Gly1209=) c.3603A>G (p.Gly1201=) c.3597A>G (p.Gly1199=) c.3570A>G (p.Gly1190=) c.3564A>G (p.Gly1188=) c.3558A>G (p.Gly1186=) c.3519A>G (p.Gly1173=) c.3507A>G (p.Gly1169=) c.3450A>G (p.Gly1150=) c.3426A>G (p.Gly1142=) c.3420A>G (p.Gly1140=) c.3402A>G (p.Gly1134=) c.3348A>G (p.Gly1116=) c.2655A>G (p.Gly885=) c.2568A>G (p.Gly856=) n.3844A>G | dbSNP gnomAD v4 |
17 | g.39727882A>T | CA499890795 | ERBB2 | c.3606A>T (p.Gly1202=) c.3516A>T (p.Gly1172=) c.2778A>T (p.Gly926=) c.3561A>T (p.Gly1187=) c.*3396A>T (n.*3396A>T) c.*185A>T (n.*185A>T) n.3930A>T c.3744A>T (p.Gly1248=) c.3699A>T (p.Gly1233=) c.3654A>T (p.Gly1218=) c.3723A>T (p.Gly1241=) c.3708A>T (p.Gly1236=) c.3687A>T (p.Gly1229=) c.3681A>T (p.Gly1227=) c.3636A>T (p.Gly1212=) c.3627A>T (p.Gly1209=) c.3603A>T (p.Gly1201=) c.3597A>T (p.Gly1199=) c.3570A>T (p.Gly1190=) c.3564A>T (p.Gly1188=) c.3558A>T (p.Gly1186=) c.3519A>T (p.Gly1173=) c.3507A>T (p.Gly1169=) c.3450A>T (p.Gly1150=) c.3426A>T (p.Gly1142=) c.3420A>T (p.Gly1140=) c.3402A>T (p.Gly1134=) c.3348A>T (p.Gly1116=) c.2655A>T (p.Gly885=) c.2568A>T (p.Gly856=) n.3844A>T | dbSNP |
17 | g.39727883G>A | CA399313924 | ERBB2 | c.3607G>A (p.Ala1203Thr) c.3517G>A (p.Ala1173Thr) c.2779G>A (p.Ala927Thr) c.3562G>A (p.Ala1188Thr) c.*3397G>A (n.*3397G>A) c.*186G>A (n.*186G>A) n.3931G>A c.3745G>A (p.Ala1249Thr) c.3700G>A (p.Ala1234Thr) c.3655G>A (p.Ala1219Thr) c.3724G>A (p.Ala1242Thr) c.3709G>A (p.Ala1237Thr) c.3688G>A (p.Ala1230Thr) c.3682G>A (p.Ala1228Thr) c.3637G>A (p.Ala1213Thr) c.3628G>A (p.Ala1210Thr) c.3604G>A (p.Ala1202Thr) c.3598G>A (p.Ala1200Thr) c.3571G>A (p.Ala1191Thr) c.3565G>A (p.Ala1189Thr) c.3559G>A (p.Ala1187Thr) c.3520G>A (p.Ala1174Thr) c.3508G>A (p.Ala1170Thr) c.3451G>A (p.Ala1151Thr) c.3427G>A (p.Ala1143Thr) c.3421G>A (p.Ala1141Thr) c.3403G>A (p.Ala1135Thr) c.3349G>A (p.Ala1117Thr) c.2656G>A (p.Ala886Thr) c.2569G>A (p.Ala857Thr) n.3845G>A | dbSNP |
17 | g.39727883G>C | CA399313925 | ERBB2 | c.3607G>C (p.Ala1203Pro) c.3517G>C (p.Ala1173Pro) c.2779G>C (p.Ala927Pro) c.3562G>C (p.Ala1188Pro) c.*3397G>C (n.*3397G>C) c.*186G>C (n.*186G>C) n.3931G>C c.3745G>C (p.Ala1249Pro) c.3700G>C (p.Ala1234Pro) c.3655G>C (p.Ala1219Pro) c.3724G>C (p.Ala1242Pro) c.3709G>C (p.Ala1237Pro) c.3688G>C (p.Ala1230Pro) c.3682G>C (p.Ala1228Pro) c.3637G>C (p.Ala1213Pro) c.3628G>C (p.Ala1210Pro) c.3604G>C (p.Ala1202Pro) c.3598G>C (p.Ala1200Pro) c.3571G>C (p.Ala1191Pro) c.3565G>C (p.Ala1189Pro) c.3559G>C (p.Ala1187Pro) c.3520G>C (p.Ala1174Pro) c.3508G>C (p.Ala1170Pro) c.3451G>C (p.Ala1151Pro) c.3427G>C (p.Ala1143Pro) c.3421G>C (p.Ala1141Pro) c.3403G>C (p.Ala1135Pro) c.3349G>C (p.Ala1117Pro) c.2656G>C (p.Ala886Pro) c.2569G>C (p.Ala857Pro) n.3845G>C | dbSNP |
17 | g.39727883G>T | CA399313928 | ERBB2 | c.3607G>T (p.Ala1203Ser) c.3517G>T (p.Ala1173Ser) c.2779G>T (p.Ala927Ser) c.3562G>T (p.Ala1188Ser) c.*3397G>T (n.*3397G>T) c.*186G>T (n.*186G>T) n.3931G>T c.3745G>T (p.Ala1249Ser) c.3700G>T (p.Ala1234Ser) c.3655G>T (p.Ala1219Ser) c.3724G>T (p.Ala1242Ser) c.3709G>T (p.Ala1237Ser) c.3688G>T (p.Ala1230Ser) c.3682G>T (p.Ala1228Ser) c.3637G>T (p.Ala1213Ser) c.3628G>T (p.Ala1210Ser) c.3604G>T (p.Ala1202Ser) c.3598G>T (p.Ala1200Ser) c.3571G>T (p.Ala1191Ser) c.3565G>T (p.Ala1189Ser) c.3559G>T (p.Ala1187Ser) c.3520G>T (p.Ala1174Ser) c.3508G>T (p.Ala1170Ser) c.3451G>T (p.Ala1151Ser) c.3427G>T (p.Ala1143Ser) c.3421G>T (p.Ala1141Ser) c.3403G>T (p.Ala1135Ser) c.3349G>T (p.Ala1117Ser) c.2656G>T (p.Ala886Ser) c.2569G>T (p.Ala857Ser) n.3845G>T | dbSNP |
17 | g.39727884C>A | CA399313933 | ERBB2 | c.3608C>A (p.Ala1203Asp) c.3518C>A (p.Ala1173Asp) c.2780C>A (p.Ala927Asp) c.3563C>A (p.Ala1188Asp) c.*3398C>A (n.*3398C>A) c.*187C>A (n.*187C>A) n.3932C>A c.3746C>A (p.Ala1249Asp) c.3701C>A (p.Ala1234Asp) c.3656C>A (p.Ala1219Asp) c.3725C>A (p.Ala1242Asp) c.3710C>A (p.Ala1237Asp) c.3689C>A (p.Ala1230Asp) c.3683C>A (p.Ala1228Asp) c.3638C>A (p.Ala1213Asp) c.3629C>A (p.Ala1210Asp) c.3605C>A (p.Ala1202Asp) c.3599C>A (p.Ala1200Asp) c.3572C>A (p.Ala1191Asp) c.3566C>A (p.Ala1189Asp) c.3560C>A (p.Ala1187Asp) c.3521C>A (p.Ala1174Asp) c.3509C>A (p.Ala1170Asp) c.3452C>A (p.Ala1151Asp) c.3428C>A (p.Ala1143Asp) c.3422C>A (p.Ala1141Asp) c.3404C>A (p.Ala1135Asp) c.3350C>A (p.Ala1117Asp) c.2657C>A (p.Ala886Asp) c.2570C>A (p.Ala857Asp) n.3846C>A | dbSNP |
17 | g.39727884C>G | CA399313934 | ERBB2 | c.3608C>G (p.Ala1203Gly) c.3518C>G (p.Ala1173Gly) c.2780C>G (p.Ala927Gly) c.3563C>G (p.Ala1188Gly) c.*3398C>G (n.*3398C>G) c.*187C>G (n.*187C>G) n.3932C>G c.3746C>G (p.Ala1249Gly) c.3701C>G (p.Ala1234Gly) c.3656C>G (p.Ala1219Gly) c.3725C>G (p.Ala1242Gly) c.3710C>G (p.Ala1237Gly) c.3689C>G (p.Ala1230Gly) c.3683C>G (p.Ala1228Gly) c.3638C>G (p.Ala1213Gly) c.3629C>G (p.Ala1210Gly) c.3605C>G (p.Ala1202Gly) c.3599C>G (p.Ala1200Gly) c.3572C>G (p.Ala1191Gly) c.3566C>G (p.Ala1189Gly) c.3560C>G (p.Ala1187Gly) c.3521C>G (p.Ala1174Gly) c.3509C>G (p.Ala1170Gly) c.3452C>G (p.Ala1151Gly) c.3428C>G (p.Ala1143Gly) c.3422C>G (p.Ala1141Gly) c.3404C>G (p.Ala1135Gly) c.3350C>G (p.Ala1117Gly) c.2657C>G (p.Ala886Gly) c.2570C>G (p.Ala857Gly) n.3846C>G | dbSNP |
17 | g.39727884C>T | CA399313937 | ERBB2 | c.3608C>T (p.Ala1203Val) c.3518C>T (p.Ala1173Val) c.2780C>T (p.Ala927Val) c.3563C>T (p.Ala1188Val) c.*3398C>T (n.*3398C>T) c.*187C>T (n.*187C>T) n.3932C>T c.3746C>T (p.Ala1249Val) c.3701C>T (p.Ala1234Val) c.3656C>T (p.Ala1219Val) c.3725C>T (p.Ala1242Val) c.3710C>T (p.Ala1237Val) c.3689C>T (p.Ala1230Val) c.3683C>T (p.Ala1228Val) c.3638C>T (p.Ala1213Val) c.3629C>T (p.Ala1210Val) c.3605C>T (p.Ala1202Val) c.3599C>T (p.Ala1200Val) c.3572C>T (p.Ala1191Val) c.3566C>T (p.Ala1189Val) c.3560C>T (p.Ala1187Val) c.3521C>T (p.Ala1174Val) c.3509C>T (p.Ala1170Val) c.3452C>T (p.Ala1151Val) c.3428C>T (p.Ala1143Val) c.3422C>T (p.Ala1141Val) c.3404C>T (p.Ala1135Val) c.3350C>T (p.Ala1117Val) c.2657C>T (p.Ala886Val) c.2570C>T (p.Ala857Val) n.3846C>T | dbSNP |
17 | g.39727885T>A | CA499890798 | ERBB2 | c.3609T>A (p.Ala1203=) c.3519T>A (p.Ala1173=) c.2781T>A (p.Ala927=) c.3564T>A (p.Ala1188=) c.*3399T>A (n.*3399T>A) c.*188T>A (n.*188T>A) n.3933T>A c.3747T>A (p.Ala1249=) c.3702T>A (p.Ala1234=) c.3657T>A (p.Ala1219=) c.3726T>A (p.Ala1242=) c.3711T>A (p.Ala1237=) c.3690T>A (p.Ala1230=) c.3684T>A (p.Ala1228=) c.3639T>A (p.Ala1213=) c.3630T>A (p.Ala1210=) c.3606T>A (p.Ala1202=) c.3600T>A (p.Ala1200=) c.3573T>A (p.Ala1191=) c.3567T>A (p.Ala1189=) c.3561T>A (p.Ala1187=) c.3522T>A (p.Ala1174=) c.3510T>A (p.Ala1170=) c.3453T>A (p.Ala1151=) c.3429T>A (p.Ala1143=) c.3423T>A (p.Ala1141=) c.3405T>A (p.Ala1135=) c.3351T>A (p.Ala1117=) c.2658T>A (p.Ala886=) c.2571T>A (p.Ala857=) n.3847T>A | dbSNP |
17 | g.39727885T>C | CA499890799 | ERBB2 | c.3609T>C (p.Ala1203=) c.3519T>C (p.Ala1173=) c.2781T>C (p.Ala927=) c.3564T>C (p.Ala1188=) c.*3399T>C (n.*3399T>C) c.*188T>C (n.*188T>C) n.3933T>C c.3747T>C (p.Ala1249=) c.3702T>C (p.Ala1234=) c.3657T>C (p.Ala1219=) c.3726T>C (p.Ala1242=) c.3711T>C (p.Ala1237=) c.3690T>C (p.Ala1230=) c.3684T>C (p.Ala1228=) c.3639T>C (p.Ala1213=) c.3630T>C (p.Ala1210=) c.3606T>C (p.Ala1202=) c.3600T>C (p.Ala1200=) c.3573T>C (p.Ala1191=) c.3567T>C (p.Ala1189=) c.3561T>C (p.Ala1187=) c.3522T>C (p.Ala1174=) c.3510T>C (p.Ala1170=) c.3453T>C (p.Ala1151=) c.3429T>C (p.Ala1143=) c.3423T>C (p.Ala1141=) c.3405T>C (p.Ala1135=) c.3351T>C (p.Ala1117=) c.2658T>C (p.Ala886=) c.2571T>C (p.Ala857=) n.3847T>C | dbSNP |
17 | g.39727885T>G | CA499890800 | ERBB2 | c.3609T>G (p.Ala1203=) c.3519T>G (p.Ala1173=) c.2781T>G (p.Ala927=) c.3564T>G (p.Ala1188=) c.*3399T>G (n.*3399T>G) c.*188T>G (n.*188T>G) n.3933T>G c.3747T>G (p.Ala1249=) c.3702T>G (p.Ala1234=) c.3657T>G (p.Ala1219=) c.3726T>G (p.Ala1242=) c.3711T>G (p.Ala1237=) c.3690T>G (p.Ala1230=) c.3684T>G (p.Ala1228=) c.3639T>G (p.Ala1213=) c.3630T>G (p.Ala1210=) c.3606T>G (p.Ala1202=) c.3600T>G (p.Ala1200=) c.3573T>G (p.Ala1191=) c.3567T>G (p.Ala1189=) c.3561T>G (p.Ala1187=) c.3522T>G (p.Ala1174=) c.3510T>G (p.Ala1170=) c.3453T>G (p.Ala1151=) c.3429T>G (p.Ala1143=) c.3423T>G (p.Ala1141=) c.3405T>G (p.Ala1135=) c.3351T>G (p.Ala1117=) c.2658T>G (p.Ala886=) c.2571T>G (p.Ala857=) n.3847T>G | dbSNP |
17 | g.39727886G>A | CA8534590 | ERBB2 | c.3610G>A (p.Ala1204Thr) c.3520G>A (p.Ala1174Thr) c.2782G>A (p.Ala928Thr) c.3565G>A (p.Ala1189Thr) c.*3400G>A (n.*3400G>A) c.*189G>A (n.*189G>A) n.3934G>A c.3748G>A (p.Ala1250Thr) c.3703G>A (p.Ala1235Thr) c.3658G>A (p.Ala1220Thr) c.3727G>A (p.Ala1243Thr) c.3712G>A (p.Ala1238Thr) c.3691G>A (p.Ala1231Thr) c.3685G>A (p.Ala1229Thr) c.3640G>A (p.Ala1214Thr) c.3631G>A (p.Ala1211Thr) c.3607G>A (p.Ala1203Thr) c.3601G>A (p.Ala1201Thr) c.3574G>A (p.Ala1192Thr) c.3568G>A (p.Ala1190Thr) c.3562G>A (p.Ala1188Thr) c.3523G>A (p.Ala1175Thr) c.3511G>A (p.Ala1171Thr) c.3454G>A (p.Ala1152Thr) c.3430G>A (p.Ala1144Thr) c.3424G>A (p.Ala1142Thr) c.3406G>A (p.Ala1136Thr) c.3352G>A (p.Ala1118Thr) c.2659G>A (p.Ala887Thr) c.2572G>A (p.Ala858Thr) n.3848G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727886G>C | CA399313948 | ERBB2 | c.3610G>C (p.Ala1204Pro) c.3520G>C (p.Ala1174Pro) c.2782G>C (p.Ala928Pro) c.3565G>C (p.Ala1189Pro) c.*3400G>C (n.*3400G>C) c.*189G>C (n.*189G>C) n.3934G>C c.3748G>C (p.Ala1250Pro) c.3703G>C (p.Ala1235Pro) c.3658G>C (p.Ala1220Pro) c.3727G>C (p.Ala1243Pro) c.3712G>C (p.Ala1238Pro) c.3691G>C (p.Ala1231Pro) c.3685G>C (p.Ala1229Pro) c.3640G>C (p.Ala1214Pro) c.3631G>C (p.Ala1211Pro) c.3607G>C (p.Ala1203Pro) c.3601G>C (p.Ala1201Pro) c.3574G>C (p.Ala1192Pro) c.3568G>C (p.Ala1190Pro) c.3562G>C (p.Ala1188Pro) c.3523G>C (p.Ala1175Pro) c.3511G>C (p.Ala1171Pro) c.3454G>C (p.Ala1152Pro) c.3430G>C (p.Ala1144Pro) c.3424G>C (p.Ala1142Pro) c.3406G>C (p.Ala1136Pro) c.3352G>C (p.Ala1118Pro) c.2659G>C (p.Ala887Pro) c.2572G>C (p.Ala858Pro) n.3848G>C | |
17 | g.39727886G= | CA2259229302 | ERBB2 | c.3610G= (p.Ala1204=) c.3520G= (p.Ala1174=) c.2782G= (p.Ala928=) c.3565G= (p.Ala1189=) c.*3400G= (n.*3400G=) c.*189G= (n.*189G=) n.3934G= c.3748G= (p.Ala1250=) c.3703G= (p.Ala1235=) c.3658G= (p.Ala1220=) c.3727G= (p.Ala1243=) c.3712G= (p.Ala1238=) c.3691G= (p.Ala1231=) c.3685G= (p.Ala1229=) c.3640G= (p.Ala1214=) c.3631G= (p.Ala1211=) c.3607G= (p.Ala1203=) c.3601G= (p.Ala1201=) c.3574G= (p.Ala1192=) c.3568G= (p.Ala1190=) c.3562G= (p.Ala1188=) c.3523G= (p.Ala1175=) c.3511G= (p.Ala1171=) c.3454G= (p.Ala1152=) c.3430G= (p.Ala1144=) c.3424G= (p.Ala1142=) c.3406G= (p.Ala1136=) c.3352G= (p.Ala1118=) c.2659G= (p.Ala887=) c.2572G= (p.Ala858=) n.3848G= | |
17 | g.39727886G>T | CA399313944 | ERBB2 | c.3610G>T (p.Ala1204Ser) c.3520G>T (p.Ala1174Ser) c.2782G>T (p.Ala928Ser) c.3565G>T (p.Ala1189Ser) c.*3400G>T (n.*3400G>T) c.*189G>T (n.*189G>T) n.3934G>T c.3748G>T (p.Ala1250Ser) c.3703G>T (p.Ala1235Ser) c.3658G>T (p.Ala1220Ser) c.3727G>T (p.Ala1243Ser) c.3712G>T (p.Ala1238Ser) c.3691G>T (p.Ala1231Ser) c.3685G>T (p.Ala1229Ser) c.3640G>T (p.Ala1214Ser) c.3631G>T (p.Ala1211Ser) c.3607G>T (p.Ala1203Ser) c.3601G>T (p.Ala1201Ser) c.3574G>T (p.Ala1192Ser) c.3568G>T (p.Ala1190Ser) c.3562G>T (p.Ala1188Ser) c.3523G>T (p.Ala1175Ser) c.3511G>T (p.Ala1171Ser) c.3454G>T (p.Ala1152Ser) c.3430G>T (p.Ala1144Ser) c.3424G>T (p.Ala1142Ser) c.3406G>T (p.Ala1136Ser) c.3352G>T (p.Ala1118Ser) c.2659G>T (p.Ala887Ser) c.2572G>T (p.Ala858Ser) n.3848G>T | |
17 | g.39727887C>A | CA399313953 | ERBB2 | c.3611C>A (p.Ala1204Asp) c.3521C>A (p.Ala1174Asp) c.2783C>A (p.Ala928Asp) c.3566C>A (p.Ala1189Asp) c.*3401C>A (n.*3401C>A) c.*190C>A (n.*190C>A) n.3935C>A c.3749C>A (p.Ala1250Asp) c.3704C>A (p.Ala1235Asp) c.3659C>A (p.Ala1220Asp) c.3728C>A (p.Ala1243Asp) c.3713C>A (p.Ala1238Asp) c.3692C>A (p.Ala1231Asp) c.3686C>A (p.Ala1229Asp) c.3641C>A (p.Ala1214Asp) c.3632C>A (p.Ala1211Asp) c.3608C>A (p.Ala1203Asp) c.3602C>A (p.Ala1201Asp) c.3575C>A (p.Ala1192Asp) c.3569C>A (p.Ala1190Asp) c.3563C>A (p.Ala1188Asp) c.3524C>A (p.Ala1175Asp) c.3512C>A (p.Ala1171Asp) c.3455C>A (p.Ala1152Asp) c.3431C>A (p.Ala1144Asp) c.3425C>A (p.Ala1142Asp) c.3407C>A (p.Ala1136Asp) c.3353C>A (p.Ala1118Asp) c.2660C>A (p.Ala887Asp) c.2573C>A (p.Ala858Asp) n.3849C>A | dbSNP |
17 | g.39727887C= | CA2259229303 | ERBB2 | c.3611C= (p.Ala1204=) c.3521C= (p.Ala1174=) c.2783C= (p.Ala928=) c.3566C= (p.Ala1189=) c.*3401C= (n.*3401C=) c.*190C= (n.*190C=) n.3935C= c.3749C= (p.Ala1250=) c.3704C= (p.Ala1235=) c.3659C= (p.Ala1220=) c.3728C= (p.Ala1243=) c.3713C= (p.Ala1238=) c.3692C= (p.Ala1231=) c.3686C= (p.Ala1229=) c.3641C= (p.Ala1214=) c.3632C= (p.Ala1211=) c.3608C= (p.Ala1203=) c.3602C= (p.Ala1201=) c.3575C= (p.Ala1192=) c.3569C= (p.Ala1190=) c.3563C= (p.Ala1188=) c.3524C= (p.Ala1175=) c.3512C= (p.Ala1171=) c.3455C= (p.Ala1152=) c.3431C= (p.Ala1144=) c.3425C= (p.Ala1142=) c.3407C= (p.Ala1136=) c.3353C= (p.Ala1118=) c.2660C= (p.Ala887=) c.2573C= (p.Ala858=) n.3849C= | |
17 | g.39727887C>G | CA290444020 | ERBB2 | c.3611C>G (p.Ala1204Gly) c.3521C>G (p.Ala1174Gly) c.2783C>G (p.Ala928Gly) c.3566C>G (p.Ala1189Gly) c.*3401C>G (n.*3401C>G) c.*190C>G (n.*190C>G) n.3935C>G c.3749C>G (p.Ala1250Gly) c.3704C>G (p.Ala1235Gly) c.3659C>G (p.Ala1220Gly) c.3728C>G (p.Ala1243Gly) c.3713C>G (p.Ala1238Gly) c.3692C>G (p.Ala1231Gly) c.3686C>G (p.Ala1229Gly) c.3641C>G (p.Ala1214Gly) c.3632C>G (p.Ala1211Gly) c.3608C>G (p.Ala1203Gly) c.3602C>G (p.Ala1201Gly) c.3575C>G (p.Ala1192Gly) c.3569C>G (p.Ala1190Gly) c.3563C>G (p.Ala1188Gly) c.3524C>G (p.Ala1175Gly) c.3512C>G (p.Ala1171Gly) c.3455C>G (p.Ala1152Gly) c.3431C>G (p.Ala1144Gly) c.3425C>G (p.Ala1142Gly) c.3407C>G (p.Ala1136Gly) c.3353C>G (p.Ala1118Gly) c.2660C>G (p.Ala887Gly) c.2573C>G (p.Ala858Gly) n.3849C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727887C>T | CA399313957 | ERBB2 | c.3611C>T (p.Ala1204Val) c.3521C>T (p.Ala1174Val) c.2783C>T (p.Ala928Val) c.3566C>T (p.Ala1189Val) c.*3401C>T (n.*3401C>T) c.*190C>T (n.*190C>T) n.3935C>T c.3749C>T (p.Ala1250Val) c.3704C>T (p.Ala1235Val) c.3659C>T (p.Ala1220Val) c.3728C>T (p.Ala1243Val) c.3713C>T (p.Ala1238Val) c.3692C>T (p.Ala1231Val) c.3686C>T (p.Ala1229Val) c.3641C>T (p.Ala1214Val) c.3632C>T (p.Ala1211Val) c.3608C>T (p.Ala1203Val) c.3602C>T (p.Ala1201Val) c.3575C>T (p.Ala1192Val) c.3569C>T (p.Ala1190Val) c.3563C>T (p.Ala1188Val) c.3524C>T (p.Ala1175Val) c.3512C>T (p.Ala1171Val) c.3455C>T (p.Ala1152Val) c.3431C>T (p.Ala1144Val) c.3425C>T (p.Ala1142Val) c.3407C>T (p.Ala1136Val) c.3353C>T (p.Ala1118Val) c.2660C>T (p.Ala887Val) c.2573C>T (p.Ala858Val) n.3849C>T | dbSNP |
17 | g.39727889_39727890del | CA2733497271 | ERBB2 | c.3613_3614del (p.Pro1205SerfsTer?) c.3523_3524del (p.Pro1175SerfsTer?) c.2785_2786del (p.Pro929SerfsTer?) c.3568_3569del (p.Pro1190SerfsTer?) c.*3403_*3404del (n.*3403_*3404del) c.*192_*193del (n.*192_*193del) n.3937_3938del c.3751_3752del (p.Pro1251SerfsTer?) c.3706_3707del (p.Pro1236SerfsTer?) c.3661_3662del (p.Pro1221SerfsTer?) c.3730_3731del (p.Pro1244SerfsTer?) c.3715_3716del (p.Pro1239SerfsTer?) c.3694_3695del (p.Pro1232SerfsTer?) c.3688_3689del (p.Pro1230SerfsTer?) c.3643_3644del (p.Pro1215SerfsTer?) c.3634_3635del (p.Pro1212SerfsTer?) c.3610_3611del (p.Pro1204SerfsTer?) c.3604_3605del (p.Pro1202SerfsTer?) c.3577_3578del (p.Pro1193SerfsTer?) c.3571_3572del (p.Pro1191SerfsTer?) c.3565_3566del (p.Pro1189SerfsTer?) c.3526_3527del (p.Pro1176SerfsTer?) c.3514_3515del (p.Pro1172SerfsTer?) c.3457_3458del (p.Pro1153SerfsTer?) c.3433_3434del (p.Pro1145SerfsTer?) c.3427_3428del (p.Pro1143SerfsTer?) c.3409_3410del (p.Pro1137SerfsTer?) c.3355_3356del (p.Pro1119SerfsTer?) c.2662_2663del (p.Pro888SerfsTer?) c.2575_2576del (p.Pro859SerfsTer?) n.3851_3852del | dbSNP |
17 | g.39727888C>A | CA499890802 | ERBB2 | c.3612C>A (p.Ala1204=) c.3522C>A (p.Ala1174=) c.2784C>A (p.Ala928=) c.3567C>A (p.Ala1189=) c.*3402C>A (n.*3402C>A) c.*191C>A (n.*191C>A) n.3936C>A c.3750C>A (p.Ala1250=) c.3705C>A (p.Ala1235=) c.3660C>A (p.Ala1220=) c.3729C>A (p.Ala1243=) c.3714C>A (p.Ala1238=) c.3693C>A (p.Ala1231=) c.3687C>A (p.Ala1229=) c.3642C>A (p.Ala1214=) c.3633C>A (p.Ala1211=) c.3609C>A (p.Ala1203=) c.3603C>A (p.Ala1201=) c.3576C>A (p.Ala1192=) c.3570C>A (p.Ala1190=) c.3564C>A (p.Ala1188=) c.3525C>A (p.Ala1175=) c.3513C>A (p.Ala1171=) c.3456C>A (p.Ala1152=) c.3432C>A (p.Ala1144=) c.3426C>A (p.Ala1142=) c.3408C>A (p.Ala1136=) c.3354C>A (p.Ala1118=) c.2661C>A (p.Ala887=) c.2574C>A (p.Ala858=) n.3850C>A | dbSNP |
17 | g.39727888C= | CA2259229304 | ERBB2 | c.3612C= (p.Ala1204=) c.3522C= (p.Ala1174=) c.2784C= (p.Ala928=) c.3567C= (p.Ala1189=) c.*3402C= (n.*3402C=) c.*191C= (n.*191C=) n.3936C= c.3750C= (p.Ala1250=) c.3705C= (p.Ala1235=) c.3660C= (p.Ala1220=) c.3729C= (p.Ala1243=) c.3714C= (p.Ala1238=) c.3693C= (p.Ala1231=) c.3687C= (p.Ala1229=) c.3642C= (p.Ala1214=) c.3633C= (p.Ala1211=) c.3609C= (p.Ala1203=) c.3603C= (p.Ala1201=) c.3576C= (p.Ala1192=) c.3570C= (p.Ala1190=) c.3564C= (p.Ala1188=) c.3525C= (p.Ala1175=) c.3513C= (p.Ala1171=) c.3456C= (p.Ala1152=) c.3432C= (p.Ala1144=) c.3426C= (p.Ala1142=) c.3408C= (p.Ala1136=) c.3354C= (p.Ala1118=) c.2661C= (p.Ala887=) c.2574C= (p.Ala858=) n.3850C= | |
17 | g.39727888C>G | CA499890804 | ERBB2 | c.3612C>G (p.Ala1204=) c.3522C>G (p.Ala1174=) c.2784C>G (p.Ala928=) c.3567C>G (p.Ala1189=) c.*3402C>G (n.*3402C>G) c.*191C>G (n.*191C>G) n.3936C>G c.3750C>G (p.Ala1250=) c.3705C>G (p.Ala1235=) c.3660C>G (p.Ala1220=) c.3729C>G (p.Ala1243=) c.3714C>G (p.Ala1238=) c.3693C>G (p.Ala1231=) c.3687C>G (p.Ala1229=) c.3642C>G (p.Ala1214=) c.3633C>G (p.Ala1211=) c.3609C>G (p.Ala1203=) c.3603C>G (p.Ala1201=) c.3576C>G (p.Ala1192=) c.3570C>G (p.Ala1190=) c.3564C>G (p.Ala1188=) c.3525C>G (p.Ala1175=) c.3513C>G (p.Ala1171=) c.3456C>G (p.Ala1152=) c.3432C>G (p.Ala1144=) c.3426C>G (p.Ala1142=) c.3408C>G (p.Ala1136=) c.3354C>G (p.Ala1118=) c.2661C>G (p.Ala887=) c.2574C>G (p.Ala858=) n.3850C>G | dbSNP |
17 | g.39727888C>T | CA8534591 | ERBB2 | c.3612C>T (p.Ala1204=) c.3522C>T (p.Ala1174=) c.2784C>T (p.Ala928=) c.3567C>T (p.Ala1189=) c.*3402C>T (n.*3402C>T) c.*191C>T (n.*191C>T) n.3936C>T c.3750C>T (p.Ala1250=) c.3705C>T (p.Ala1235=) c.3660C>T (p.Ala1220=) c.3729C>T (p.Ala1243=) c.3714C>T (p.Ala1238=) c.3693C>T (p.Ala1231=) c.3687C>T (p.Ala1229=) c.3642C>T (p.Ala1214=) c.3633C>T (p.Ala1211=) c.3609C>T (p.Ala1203=) c.3603C>T (p.Ala1201=) c.3576C>T (p.Ala1192=) c.3570C>T (p.Ala1190=) c.3564C>T (p.Ala1188=) c.3525C>T (p.Ala1175=) c.3513C>T (p.Ala1171=) c.3456C>T (p.Ala1152=) c.3432C>T (p.Ala1144=) c.3426C>T (p.Ala1142=) c.3408C>T (p.Ala1136=) c.3354C>T (p.Ala1118=) c.2661C>T (p.Ala887=) c.2574C>T (p.Ala858=) n.3850C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727888_39727893dup | CA2637630795 | ERBB2 | c.3612_3617dup (p.Pro1205_Gln1206insHisPro) c.3522_3527dup (p.Pro1175_Gln1176insHisPro) c.2784_2789dup (p.Pro929_Gln930insHisPro) c.3567_3572dup (p.Pro1190_Gln1191insHisPro) c.*3402_*3407dup (n.*3402_*3407dup) c.*191_*196dup (n.*191_*196dup) n.3936_3941dup c.3750_3755dup (p.Pro1251_Gln1252insHisPro) c.3705_3710dup (p.Pro1236_Gln1237insHisPro) c.3660_3665dup (p.Pro1221_Gln1222insHisPro) c.3729_3734dup (p.Pro1244_Gln1245insHisPro) c.3714_3719dup (p.Pro1239_Gln1240insHisPro) c.3693_3698dup (p.Pro1232_Gln1233insHisPro) c.3687_3692dup (p.Pro1230_Gln1231insHisPro) c.3642_3647dup (p.Pro1215_Gln1216insHisPro) c.3633_3638dup (p.Pro1212_Gln1213insHisPro) c.3609_3614dup (p.Pro1204_Gln1205insHisPro) c.3603_3608dup (p.Pro1202_Gln1203insHisPro) c.3576_3581dup (p.Pro1193_Gln1194insHisPro) c.3570_3575dup (p.Pro1191_Gln1192insHisPro) c.3564_3569dup (p.Pro1189_Gln1190insHisPro) c.3525_3530dup (p.Pro1176_Gln1177insHisPro) c.3513_3518dup (p.Pro1172_Gln1173insHisPro) c.3456_3461dup (p.Pro1153_Gln1154insHisPro) c.3432_3437dup (p.Pro1145_Gln1146insHisPro) c.3426_3431dup (p.Pro1143_Gln1144insHisPro) c.3408_3413dup (p.Pro1137_Gln1138insHisPro) c.3354_3359dup (p.Pro1119_Gln1120insHisPro) c.2661_2666dup (p.Pro888_Gln889insHisPro) c.2574_2579dup (p.Pro859_Gln860insHisPro) n.3850_3855dup | gnomAD v4 |
17 | g.39727889C>A | CA399313969 | ERBB2 | c.3613C>A (p.Pro1205Thr) c.3523C>A (p.Pro1175Thr) c.2785C>A (p.Pro929Thr) c.3568C>A (p.Pro1190Thr) c.*3403C>A (n.*3403C>A) c.*192C>A (n.*192C>A) n.3937C>A c.3751C>A (p.Pro1251Thr) c.3706C>A (p.Pro1236Thr) c.3661C>A (p.Pro1221Thr) c.3730C>A (p.Pro1244Thr) c.3715C>A (p.Pro1239Thr) c.3694C>A (p.Pro1232Thr) c.3688C>A (p.Pro1230Thr) c.3643C>A (p.Pro1215Thr) c.3634C>A (p.Pro1212Thr) c.3610C>A (p.Pro1204Thr) c.3604C>A (p.Pro1202Thr) c.3577C>A (p.Pro1193Thr) c.3571C>A (p.Pro1191Thr) c.3565C>A (p.Pro1189Thr) c.3526C>A (p.Pro1176Thr) c.3514C>A (p.Pro1172Thr) c.3457C>A (p.Pro1153Thr) c.3433C>A (p.Pro1145Thr) c.3427C>A (p.Pro1143Thr) c.3409C>A (p.Pro1137Thr) c.3355C>A (p.Pro1119Thr) c.2662C>A (p.Pro888Thr) c.2575C>A (p.Pro859Thr) n.3851C>A | dbSNP |
17 | g.39727889C= | CA2259229305 | ERBB2 | c.3613C= (p.Pro1205=) c.3523C= (p.Pro1175=) c.2785C= (p.Pro929=) c.3568C= (p.Pro1190=) c.*3403C= (n.*3403C=) c.*192C= (n.*192C=) n.3937C= c.3751C= (p.Pro1251=) c.3706C= (p.Pro1236=) c.3661C= (p.Pro1221=) c.3730C= (p.Pro1244=) c.3715C= (p.Pro1239=) c.3694C= (p.Pro1232=) c.3688C= (p.Pro1230=) c.3643C= (p.Pro1215=) c.3634C= (p.Pro1212=) c.3610C= (p.Pro1204=) c.3604C= (p.Pro1202=) c.3577C= (p.Pro1193=) c.3571C= (p.Pro1191=) c.3565C= (p.Pro1189=) c.3526C= (p.Pro1176=) c.3514C= (p.Pro1172=) c.3457C= (p.Pro1153=) c.3433C= (p.Pro1145=) c.3427C= (p.Pro1143=) c.3409C= (p.Pro1137=) c.3355C= (p.Pro1119=) c.2662C= (p.Pro888=) c.2575C= (p.Pro859=) n.3851C= | |
17 | g.39727889C>G | CA399313965 | ERBB2 | c.3613C>G (p.Pro1205Ala) c.3523C>G (p.Pro1175Ala) c.2785C>G (p.Pro929Ala) c.3568C>G (p.Pro1190Ala) c.*3403C>G (n.*3403C>G) c.*192C>G (n.*192C>G) n.3937C>G c.3751C>G (p.Pro1251Ala) c.3706C>G (p.Pro1236Ala) c.3661C>G (p.Pro1221Ala) c.3730C>G (p.Pro1244Ala) c.3715C>G (p.Pro1239Ala) c.3694C>G (p.Pro1232Ala) c.3688C>G (p.Pro1230Ala) c.3643C>G (p.Pro1215Ala) c.3634C>G (p.Pro1212Ala) c.3610C>G (p.Pro1204Ala) c.3604C>G (p.Pro1202Ala) c.3577C>G (p.Pro1193Ala) c.3571C>G (p.Pro1191Ala) c.3565C>G (p.Pro1189Ala) c.3526C>G (p.Pro1176Ala) c.3514C>G (p.Pro1172Ala) c.3457C>G (p.Pro1153Ala) c.3433C>G (p.Pro1145Ala) c.3427C>G (p.Pro1143Ala) c.3409C>G (p.Pro1137Ala) c.3355C>G (p.Pro1119Ala) c.2662C>G (p.Pro888Ala) c.2575C>G (p.Pro859Ala) n.3851C>G | dbSNP |
17 | g.39727889C>T | CA8534592 | ERBB2 | c.3613C>T (p.Pro1205Ser) c.3523C>T (p.Pro1175Ser) c.2785C>T (p.Pro929Ser) c.3568C>T (p.Pro1190Ser) c.*3403C>T (n.*3403C>T) c.*192C>T (n.*192C>T) n.3937C>T c.3751C>T (p.Pro1251Ser) c.3706C>T (p.Pro1236Ser) c.3661C>T (p.Pro1221Ser) c.3730C>T (p.Pro1244Ser) c.3715C>T (p.Pro1239Ser) c.3694C>T (p.Pro1232Ser) c.3688C>T (p.Pro1230Ser) c.3643C>T (p.Pro1215Ser) c.3634C>T (p.Pro1212Ser) c.3610C>T (p.Pro1204Ser) c.3604C>T (p.Pro1202Ser) c.3577C>T (p.Pro1193Ser) c.3571C>T (p.Pro1191Ser) c.3565C>T (p.Pro1189Ser) c.3526C>T (p.Pro1176Ser) c.3514C>T (p.Pro1172Ser) c.3457C>T (p.Pro1153Ser) c.3433C>T (p.Pro1145Ser) c.3427C>T (p.Pro1143Ser) c.3409C>T (p.Pro1137Ser) c.3355C>T (p.Pro1119Ser) c.2662C>T (p.Pro888Ser) c.2575C>T (p.Pro859Ser) n.3851C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727890C>A | CA399313971 | ERBB2 | c.3614C>A (p.Pro1205His) c.3524C>A (p.Pro1175His) c.2786C>A (p.Pro929His) c.3569C>A (p.Pro1190His) c.*3404C>A (n.*3404C>A) c.*193C>A (n.*193C>A) n.3938C>A c.3752C>A (p.Pro1251His) c.3707C>A (p.Pro1236His) c.3662C>A (p.Pro1221His) c.3731C>A (p.Pro1244His) c.3716C>A (p.Pro1239His) c.3695C>A (p.Pro1232His) c.3689C>A (p.Pro1230His) c.3644C>A (p.Pro1215His) c.3635C>A (p.Pro1212His) c.3611C>A (p.Pro1204His) c.3605C>A (p.Pro1202His) c.3578C>A (p.Pro1193His) c.3572C>A (p.Pro1191His) c.3566C>A (p.Pro1189His) c.3527C>A (p.Pro1176His) c.3515C>A (p.Pro1172His) c.3458C>A (p.Pro1153His) c.3434C>A (p.Pro1145His) c.3428C>A (p.Pro1143His) c.3410C>A (p.Pro1137His) c.3356C>A (p.Pro1119His) c.2663C>A (p.Pro888His) c.2576C>A (p.Pro859His) n.3852C>A | dbSNP |
17 | g.39727890C>G | CA399313975 | ERBB2 | c.3614C>G (p.Pro1205Arg) c.3524C>G (p.Pro1175Arg) c.2786C>G (p.Pro929Arg) c.3569C>G (p.Pro1190Arg) c.*3404C>G (n.*3404C>G) c.*193C>G (n.*193C>G) n.3938C>G c.3752C>G (p.Pro1251Arg) c.3707C>G (p.Pro1236Arg) c.3662C>G (p.Pro1221Arg) c.3731C>G (p.Pro1244Arg) c.3716C>G (p.Pro1239Arg) c.3695C>G (p.Pro1232Arg) c.3689C>G (p.Pro1230Arg) c.3644C>G (p.Pro1215Arg) c.3635C>G (p.Pro1212Arg) c.3611C>G (p.Pro1204Arg) c.3605C>G (p.Pro1202Arg) c.3578C>G (p.Pro1193Arg) c.3572C>G (p.Pro1191Arg) c.3566C>G (p.Pro1189Arg) c.3527C>G (p.Pro1176Arg) c.3515C>G (p.Pro1172Arg) c.3458C>G (p.Pro1153Arg) c.3434C>G (p.Pro1145Arg) c.3428C>G (p.Pro1143Arg) c.3410C>G (p.Pro1137Arg) c.3356C>G (p.Pro1119Arg) c.2663C>G (p.Pro888Arg) c.2576C>G (p.Pro859Arg) n.3852C>G | |
17 | g.39727890C>T | CA399313978 | ERBB2 | c.3614C>T (p.Pro1205Leu) c.3524C>T (p.Pro1175Leu) c.2786C>T (p.Pro929Leu) c.3569C>T (p.Pro1190Leu) c.*3404C>T (n.*3404C>T) c.*193C>T (n.*193C>T) n.3938C>T c.3752C>T (p.Pro1251Leu) c.3707C>T (p.Pro1236Leu) c.3662C>T (p.Pro1221Leu) c.3731C>T (p.Pro1244Leu) c.3716C>T (p.Pro1239Leu) c.3695C>T (p.Pro1232Leu) c.3689C>T (p.Pro1230Leu) c.3644C>T (p.Pro1215Leu) c.3635C>T (p.Pro1212Leu) c.3611C>T (p.Pro1204Leu) c.3605C>T (p.Pro1202Leu) c.3578C>T (p.Pro1193Leu) c.3572C>T (p.Pro1191Leu) c.3566C>T (p.Pro1189Leu) c.3527C>T (p.Pro1176Leu) c.3515C>T (p.Pro1172Leu) c.3458C>T (p.Pro1153Leu) c.3434C>T (p.Pro1145Leu) c.3428C>T (p.Pro1143Leu) c.3410C>T (p.Pro1137Leu) c.3356C>T (p.Pro1119Leu) c.2663C>T (p.Pro888Leu) c.2576C>T (p.Pro859Leu) n.3852C>T | gnomAD v4 |
17 | g.39727891T>A | CA499890805 | ERBB2 | c.3615T>A (p.Pro1205=) c.3525T>A (p.Pro1175=) c.2787T>A (p.Pro929=) c.3570T>A (p.Pro1190=) c.*3405T>A (n.*3405T>A) c.*194T>A (n.*194T>A) n.3939T>A c.3753T>A (p.Pro1251=) c.3708T>A (p.Pro1236=) c.3663T>A (p.Pro1221=) c.3732T>A (p.Pro1244=) c.3717T>A (p.Pro1239=) c.3696T>A (p.Pro1232=) c.3690T>A (p.Pro1230=) c.3645T>A (p.Pro1215=) c.3636T>A (p.Pro1212=) c.3612T>A (p.Pro1204=) c.3606T>A (p.Pro1202=) c.3579T>A (p.Pro1193=) c.3573T>A (p.Pro1191=) c.3567T>A (p.Pro1189=) c.3528T>A (p.Pro1176=) c.3516T>A (p.Pro1172=) c.3459T>A (p.Pro1153=) c.3435T>A (p.Pro1145=) c.3429T>A (p.Pro1143=) c.3411T>A (p.Pro1137=) c.3357T>A (p.Pro1119=) c.2664T>A (p.Pro888=) c.2577T>A (p.Pro859=) n.3853T>A | dbSNP |
17 | g.39727891T>C | CA499890806 | ERBB2 | c.3615T>C (p.Pro1205=) c.3525T>C (p.Pro1175=) c.2787T>C (p.Pro929=) c.3570T>C (p.Pro1190=) c.*3405T>C (n.*3405T>C) c.*194T>C (n.*194T>C) n.3939T>C c.3753T>C (p.Pro1251=) c.3708T>C (p.Pro1236=) c.3663T>C (p.Pro1221=) c.3732T>C (p.Pro1244=) c.3717T>C (p.Pro1239=) c.3696T>C (p.Pro1232=) c.3690T>C (p.Pro1230=) c.3645T>C (p.Pro1215=) c.3636T>C (p.Pro1212=) c.3612T>C (p.Pro1204=) c.3606T>C (p.Pro1202=) c.3579T>C (p.Pro1193=) c.3573T>C (p.Pro1191=) c.3567T>C (p.Pro1189=) c.3528T>C (p.Pro1176=) c.3516T>C (p.Pro1172=) c.3459T>C (p.Pro1153=) c.3435T>C (p.Pro1145=) c.3429T>C (p.Pro1143=) c.3411T>C (p.Pro1137=) c.3357T>C (p.Pro1119=) c.2664T>C (p.Pro888=) c.2577T>C (p.Pro859=) n.3853T>C | dbSNP |
17 | g.39727891T>G | CA499890807 | ERBB2 | c.3615T>G (p.Pro1205=) c.3525T>G (p.Pro1175=) c.2787T>G (p.Pro929=) c.3570T>G (p.Pro1190=) c.*3405T>G (n.*3405T>G) c.*194T>G (n.*194T>G) n.3939T>G c.3753T>G (p.Pro1251=) c.3708T>G (p.Pro1236=) c.3663T>G (p.Pro1221=) c.3732T>G (p.Pro1244=) c.3717T>G (p.Pro1239=) c.3696T>G (p.Pro1232=) c.3690T>G (p.Pro1230=) c.3645T>G (p.Pro1215=) c.3636T>G (p.Pro1212=) c.3612T>G (p.Pro1204=) c.3606T>G (p.Pro1202=) c.3579T>G (p.Pro1193=) c.3573T>G (p.Pro1191=) c.3567T>G (p.Pro1189=) c.3528T>G (p.Pro1176=) c.3516T>G (p.Pro1172=) c.3459T>G (p.Pro1153=) c.3435T>G (p.Pro1145=) c.3429T>G (p.Pro1143=) c.3411T>G (p.Pro1137=) c.3357T>G (p.Pro1119=) c.2664T>G (p.Pro888=) c.2577T>G (p.Pro859=) n.3853T>G | |
17 | g.39727892C>A | CA399313982 | ERBB2 | c.3616C>A (p.Gln1206Lys) c.3526C>A (p.Gln1176Lys) c.2788C>A (p.Gln930Lys) c.3571C>A (p.Gln1191Lys) c.*3406C>A (n.*3406C>A) c.*195C>A (n.*195C>A) n.3940C>A c.3754C>A (p.Gln1252Lys) c.3709C>A (p.Gln1237Lys) c.3664C>A (p.Gln1222Lys) c.3733C>A (p.Gln1245Lys) c.3718C>A (p.Gln1240Lys) c.3697C>A (p.Gln1233Lys) c.3691C>A (p.Gln1231Lys) c.3646C>A (p.Gln1216Lys) c.3637C>A (p.Gln1213Lys) c.3613C>A (p.Gln1205Lys) c.3607C>A (p.Gln1203Lys) c.3580C>A (p.Gln1194Lys) c.3574C>A (p.Gln1192Lys) c.3568C>A (p.Gln1190Lys) c.3529C>A (p.Gln1177Lys) c.3517C>A (p.Gln1173Lys) c.3460C>A (p.Gln1154Lys) c.3436C>A (p.Gln1146Lys) c.3430C>A (p.Gln1144Lys) c.3412C>A (p.Gln1138Lys) c.3358C>A (p.Gln1120Lys) c.2665C>A (p.Gln889Lys) c.2578C>A (p.Gln860Lys) n.3854C>A | |
17 | g.39727892C>G | CA399313985 | ERBB2 | c.3616C>G (p.Gln1206Glu) c.3526C>G (p.Gln1176Glu) c.2788C>G (p.Gln930Glu) c.3571C>G (p.Gln1191Glu) c.*3406C>G (n.*3406C>G) c.*195C>G (n.*195C>G) n.3940C>G c.3754C>G (p.Gln1252Glu) c.3709C>G (p.Gln1237Glu) c.3664C>G (p.Gln1222Glu) c.3733C>G (p.Gln1245Glu) c.3718C>G (p.Gln1240Glu) c.3697C>G (p.Gln1233Glu) c.3691C>G (p.Gln1231Glu) c.3646C>G (p.Gln1216Glu) c.3637C>G (p.Gln1213Glu) c.3613C>G (p.Gln1205Glu) c.3607C>G (p.Gln1203Glu) c.3580C>G (p.Gln1194Glu) c.3574C>G (p.Gln1192Glu) c.3568C>G (p.Gln1190Glu) c.3529C>G (p.Gln1177Glu) c.3517C>G (p.Gln1173Glu) c.3460C>G (p.Gln1154Glu) c.3436C>G (p.Gln1146Glu) c.3430C>G (p.Gln1144Glu) c.3412C>G (p.Gln1138Glu) c.3358C>G (p.Gln1120Glu) c.2665C>G (p.Gln889Glu) c.2578C>G (p.Gln860Glu) n.3854C>G | dbSNP |
17 | g.39727892C>T | CA399313988 | ERBB2 | c.3616C>T (p.Gln1206Ter) c.3526C>T (p.Gln1176Ter) c.2788C>T (p.Gln930Ter) c.3571C>T (p.Gln1191Ter) c.*3406C>T (n.*3406C>T) c.*195C>T (n.*195C>T) n.3940C>T c.3754C>T (p.Gln1252Ter) c.3709C>T (p.Gln1237Ter) c.3664C>T (p.Gln1222Ter) c.3733C>T (p.Gln1245Ter) c.3718C>T (p.Gln1240Ter) c.3697C>T (p.Gln1233Ter) c.3691C>T (p.Gln1231Ter) c.3646C>T (p.Gln1216Ter) c.3637C>T (p.Gln1213Ter) c.3613C>T (p.Gln1205Ter) c.3607C>T (p.Gln1203Ter) c.3580C>T (p.Gln1194Ter) c.3574C>T (p.Gln1192Ter) c.3568C>T (p.Gln1190Ter) c.3529C>T (p.Gln1177Ter) c.3517C>T (p.Gln1173Ter) c.3460C>T (p.Gln1154Ter) c.3436C>T (p.Gln1146Ter) c.3430C>T (p.Gln1144Ter) c.3412C>T (p.Gln1138Ter) c.3358C>T (p.Gln1120Ter) c.2665C>T (p.Gln889Ter) c.2578C>T (p.Gln860Ter) n.3854C>T | dbSNP gnomAD v4 |
17 | g.39727893A>C | CA399313992 | ERBB2 | c.3617A>C (p.Gln1206Pro) c.3527A>C (p.Gln1176Pro) c.2789A>C (p.Gln930Pro) c.3572A>C (p.Gln1191Pro) c.*3407A>C (n.*3407A>C) c.*196A>C (n.*196A>C) n.3941A>C c.3755A>C (p.Gln1252Pro) c.3710A>C (p.Gln1237Pro) c.3665A>C (p.Gln1222Pro) c.3734A>C (p.Gln1245Pro) c.3719A>C (p.Gln1240Pro) c.3698A>C (p.Gln1233Pro) c.3692A>C (p.Gln1231Pro) c.3647A>C (p.Gln1216Pro) c.3638A>C (p.Gln1213Pro) c.3614A>C (p.Gln1205Pro) c.3608A>C (p.Gln1203Pro) c.3581A>C (p.Gln1194Pro) c.3575A>C (p.Gln1192Pro) c.3569A>C (p.Gln1190Pro) c.3530A>C (p.Gln1177Pro) c.3518A>C (p.Gln1173Pro) c.3461A>C (p.Gln1154Pro) c.3437A>C (p.Gln1146Pro) c.3431A>C (p.Gln1144Pro) c.3413A>C (p.Gln1138Pro) c.3359A>C (p.Gln1120Pro) c.2666A>C (p.Gln889Pro) c.2579A>C (p.Gln860Pro) n.3855A>C | dbSNP |
17 | g.39727893A>G | CA399313995 | ERBB2 | c.3617A>G (p.Gln1206Arg) c.3527A>G (p.Gln1176Arg) c.2789A>G (p.Gln930Arg) c.3572A>G (p.Gln1191Arg) c.*3407A>G (n.*3407A>G) c.*196A>G (n.*196A>G) n.3941A>G c.3755A>G (p.Gln1252Arg) c.3710A>G (p.Gln1237Arg) c.3665A>G (p.Gln1222Arg) c.3734A>G (p.Gln1245Arg) c.3719A>G (p.Gln1240Arg) c.3698A>G (p.Gln1233Arg) c.3692A>G (p.Gln1231Arg) c.3647A>G (p.Gln1216Arg) c.3638A>G (p.Gln1213Arg) c.3614A>G (p.Gln1205Arg) c.3608A>G (p.Gln1203Arg) c.3581A>G (p.Gln1194Arg) c.3575A>G (p.Gln1192Arg) c.3569A>G (p.Gln1190Arg) c.3530A>G (p.Gln1177Arg) c.3518A>G (p.Gln1173Arg) c.3461A>G (p.Gln1154Arg) c.3437A>G (p.Gln1146Arg) c.3431A>G (p.Gln1144Arg) c.3413A>G (p.Gln1138Arg) c.3359A>G (p.Gln1120Arg) c.2666A>G (p.Gln889Arg) c.2579A>G (p.Gln860Arg) n.3855A>G | dbSNP gnomAD v4 |
17 | g.39727893A>T | CA399313997 | ERBB2 | c.3617A>T (p.Gln1206Leu) c.3527A>T (p.Gln1176Leu) c.2789A>T (p.Gln930Leu) c.3572A>T (p.Gln1191Leu) c.*3407A>T (n.*3407A>T) c.*196A>T (n.*196A>T) n.3941A>T c.3755A>T (p.Gln1252Leu) c.3710A>T (p.Gln1237Leu) c.3665A>T (p.Gln1222Leu) c.3734A>T (p.Gln1245Leu) c.3719A>T (p.Gln1240Leu) c.3698A>T (p.Gln1233Leu) c.3692A>T (p.Gln1231Leu) c.3647A>T (p.Gln1216Leu) c.3638A>T (p.Gln1213Leu) c.3614A>T (p.Gln1205Leu) c.3608A>T (p.Gln1203Leu) c.3581A>T (p.Gln1194Leu) c.3575A>T (p.Gln1192Leu) c.3569A>T (p.Gln1190Leu) c.3530A>T (p.Gln1177Leu) c.3518A>T (p.Gln1173Leu) c.3461A>T (p.Gln1154Leu) c.3437A>T (p.Gln1146Leu) c.3431A>T (p.Gln1144Leu) c.3413A>T (p.Gln1138Leu) c.3359A>T (p.Gln1120Leu) c.2666A>T (p.Gln889Leu) c.2579A>T (p.Gln860Leu) n.3855A>T | dbSNP |
17 | g.39727894G>A | CA499890811 | ERBB2 | c.3618G>A (p.Gln1206=) c.3528G>A (p.Gln1176=) c.2790G>A (p.Gln930=) c.3573G>A (p.Gln1191=) c.*3408G>A (n.*3408G>A) c.*197G>A (n.*197G>A) n.3942G>A c.3756G>A (p.Gln1252=) c.3711G>A (p.Gln1237=) c.3666G>A (p.Gln1222=) c.3735G>A (p.Gln1245=) c.3720G>A (p.Gln1240=) c.3699G>A (p.Gln1233=) c.3693G>A (p.Gln1231=) c.3648G>A (p.Gln1216=) c.3639G>A (p.Gln1213=) c.3615G>A (p.Gln1205=) c.3609G>A (p.Gln1203=) c.3582G>A (p.Gln1194=) c.3576G>A (p.Gln1192=) c.3570G>A (p.Gln1190=) c.3531G>A (p.Gln1177=) c.3519G>A (p.Gln1173=) c.3462G>A (p.Gln1154=) c.3438G>A (p.Gln1146=) c.3432G>A (p.Gln1144=) c.3414G>A (p.Gln1138=) c.3360G>A (p.Gln1120=) c.2667G>A (p.Gln889=) c.2580G>A (p.Gln860=) n.3856G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727894G>C | CA399314003 | ERBB2 | c.3618G>C (p.Gln1206His) c.3528G>C (p.Gln1176His) c.2790G>C (p.Gln930His) c.3573G>C (p.Gln1191His) c.*3408G>C (n.*3408G>C) c.*197G>C (n.*197G>C) n.3942G>C c.3756G>C (p.Gln1252His) c.3711G>C (p.Gln1237His) c.3666G>C (p.Gln1222His) c.3735G>C (p.Gln1245His) c.3720G>C (p.Gln1240His) c.3699G>C (p.Gln1233His) c.3693G>C (p.Gln1231His) c.3648G>C (p.Gln1216His) c.3639G>C (p.Gln1213His) c.3615G>C (p.Gln1205His) c.3609G>C (p.Gln1203His) c.3582G>C (p.Gln1194His) c.3576G>C (p.Gln1192His) c.3570G>C (p.Gln1190His) c.3531G>C (p.Gln1177His) c.3519G>C (p.Gln1173His) c.3462G>C (p.Gln1154His) c.3438G>C (p.Gln1146His) c.3432G>C (p.Gln1144His) c.3414G>C (p.Gln1138His) c.3360G>C (p.Gln1120His) c.2667G>C (p.Gln889His) c.2580G>C (p.Gln860His) n.3856G>C | |
17 | g.39727894G= | CA2259229306 | ERBB2 | c.3618G= (p.Gln1206=) c.3528G= (p.Gln1176=) c.2790G= (p.Gln930=) c.3573G= (p.Gln1191=) c.*3408G= (n.*3408G=) c.*197G= (n.*197G=) n.3942G= c.3756G= (p.Gln1252=) c.3711G= (p.Gln1237=) c.3666G= (p.Gln1222=) c.3735G= (p.Gln1245=) c.3720G= (p.Gln1240=) c.3699G= (p.Gln1233=) c.3693G= (p.Gln1231=) c.3648G= (p.Gln1216=) c.3639G= (p.Gln1213=) c.3615G= (p.Gln1205=) c.3609G= (p.Gln1203=) c.3582G= (p.Gln1194=) c.3576G= (p.Gln1192=) c.3570G= (p.Gln1190=) c.3531G= (p.Gln1177=) c.3519G= (p.Gln1173=) c.3462G= (p.Gln1154=) c.3438G= (p.Gln1146=) c.3432G= (p.Gln1144=) c.3414G= (p.Gln1138=) c.3360G= (p.Gln1120=) c.2667G= (p.Gln889=) c.2580G= (p.Gln860=) n.3856G= | |
17 | g.39727894G>T | CA399314001 | ERBB2 | c.3618G>T (p.Gln1206His) c.3528G>T (p.Gln1176His) c.2790G>T (p.Gln930His) c.3573G>T (p.Gln1191His) c.*3408G>T (n.*3408G>T) c.*197G>T (n.*197G>T) n.3942G>T c.3756G>T (p.Gln1252His) c.3711G>T (p.Gln1237His) c.3666G>T (p.Gln1222His) c.3735G>T (p.Gln1245His) c.3720G>T (p.Gln1240His) c.3699G>T (p.Gln1233His) c.3693G>T (p.Gln1231His) c.3648G>T (p.Gln1216His) c.3639G>T (p.Gln1213His) c.3615G>T (p.Gln1205His) c.3609G>T (p.Gln1203His) c.3582G>T (p.Gln1194His) c.3576G>T (p.Gln1192His) c.3570G>T (p.Gln1190His) c.3531G>T (p.Gln1177His) c.3519G>T (p.Gln1173His) c.3462G>T (p.Gln1154His) c.3438G>T (p.Gln1146His) c.3432G>T (p.Gln1144His) c.3414G>T (p.Gln1138His) c.3360G>T (p.Gln1120His) c.2667G>T (p.Gln889His) c.2580G>T (p.Gln860His) n.3856G>T | |
17 | g.39727895C>A | CA399314007 | ERBB2 | c.3619C>A (p.Pro1207Thr) c.3529C>A (p.Pro1177Thr) c.2791C>A (p.Pro931Thr) c.3574C>A (p.Pro1192Thr) c.*3409C>A (n.*3409C>A) c.*198C>A (n.*198C>A) n.3943C>A c.3757C>A (p.Pro1253Thr) c.3712C>A (p.Pro1238Thr) c.3667C>A (p.Pro1223Thr) c.3736C>A (p.Pro1246Thr) c.3721C>A (p.Pro1241Thr) c.3700C>A (p.Pro1234Thr) c.3694C>A (p.Pro1232Thr) c.3649C>A (p.Pro1217Thr) c.3640C>A (p.Pro1214Thr) c.3616C>A (p.Pro1206Thr) c.3610C>A (p.Pro1204Thr) c.3583C>A (p.Pro1195Thr) c.3577C>A (p.Pro1193Thr) c.3571C>A (p.Pro1191Thr) c.3532C>A (p.Pro1178Thr) c.3520C>A (p.Pro1174Thr) c.3463C>A (p.Pro1155Thr) c.3439C>A (p.Pro1147Thr) c.3433C>A (p.Pro1145Thr) c.3415C>A (p.Pro1139Thr) c.3361C>A (p.Pro1121Thr) c.2668C>A (p.Pro890Thr) c.2581C>A (p.Pro861Thr) n.3857C>A | dbSNP |
17 | g.39727895C>G | CA399314011 | ERBB2 | c.3619C>G (p.Pro1207Ala) c.3529C>G (p.Pro1177Ala) c.2791C>G (p.Pro931Ala) c.3574C>G (p.Pro1192Ala) c.*3409C>G (n.*3409C>G) c.*198C>G (n.*198C>G) n.3943C>G c.3757C>G (p.Pro1253Ala) c.3712C>G (p.Pro1238Ala) c.3667C>G (p.Pro1223Ala) c.3736C>G (p.Pro1246Ala) c.3721C>G (p.Pro1241Ala) c.3700C>G (p.Pro1234Ala) c.3694C>G (p.Pro1232Ala) c.3649C>G (p.Pro1217Ala) c.3640C>G (p.Pro1214Ala) c.3616C>G (p.Pro1206Ala) c.3610C>G (p.Pro1204Ala) c.3583C>G (p.Pro1195Ala) c.3577C>G (p.Pro1193Ala) c.3571C>G (p.Pro1191Ala) c.3532C>G (p.Pro1178Ala) c.3520C>G (p.Pro1174Ala) c.3463C>G (p.Pro1155Ala) c.3439C>G (p.Pro1147Ala) c.3433C>G (p.Pro1145Ala) c.3415C>G (p.Pro1139Ala) c.3361C>G (p.Pro1121Ala) c.2668C>G (p.Pro890Ala) c.2581C>G (p.Pro861Ala) n.3857C>G | dbSNP |
17 | g.39727895C>T | CA399314014 | ERBB2 | c.3619C>T (p.Pro1207Ser) c.3529C>T (p.Pro1177Ser) c.2791C>T (p.Pro931Ser) c.3574C>T (p.Pro1192Ser) c.*3409C>T (n.*3409C>T) c.*198C>T (n.*198C>T) n.3943C>T c.3757C>T (p.Pro1253Ser) c.3712C>T (p.Pro1238Ser) c.3667C>T (p.Pro1223Ser) c.3736C>T (p.Pro1246Ser) c.3721C>T (p.Pro1241Ser) c.3700C>T (p.Pro1234Ser) c.3694C>T (p.Pro1232Ser) c.3649C>T (p.Pro1217Ser) c.3640C>T (p.Pro1214Ser) c.3616C>T (p.Pro1206Ser) c.3610C>T (p.Pro1204Ser) c.3583C>T (p.Pro1195Ser) c.3577C>T (p.Pro1193Ser) c.3571C>T (p.Pro1191Ser) c.3532C>T (p.Pro1178Ser) c.3520C>T (p.Pro1174Ser) c.3463C>T (p.Pro1155Ser) c.3439C>T (p.Pro1147Ser) c.3433C>T (p.Pro1145Ser) c.3415C>T (p.Pro1139Ser) c.3361C>T (p.Pro1121Ser) c.2668C>T (p.Pro890Ser) c.2581C>T (p.Pro861Ser) n.3857C>T | dbSNP |
17 | g.39727896C>A | CA399314033 | ERBB2 | c.3620C>A (p.Pro1207His) c.3530C>A (p.Pro1177His) c.2792C>A (p.Pro931His) c.3575C>A (p.Pro1192His) c.*3410C>A (n.*3410C>A) c.*199C>A (n.*199C>A) n.3944C>A c.3758C>A (p.Pro1253His) c.3713C>A (p.Pro1238His) c.3668C>A (p.Pro1223His) c.3737C>A (p.Pro1246His) c.3722C>A (p.Pro1241His) c.3701C>A (p.Pro1234His) c.3695C>A (p.Pro1232His) c.3650C>A (p.Pro1217His) c.3641C>A (p.Pro1214His) c.3617C>A (p.Pro1206His) c.3611C>A (p.Pro1204His) c.3584C>A (p.Pro1195His) c.3578C>A (p.Pro1193His) c.3572C>A (p.Pro1191His) c.3533C>A (p.Pro1178His) c.3521C>A (p.Pro1174His) c.3464C>A (p.Pro1155His) c.3440C>A (p.Pro1147His) c.3434C>A (p.Pro1145His) c.3416C>A (p.Pro1139His) c.3362C>A (p.Pro1121His) c.2669C>A (p.Pro890His) c.2582C>A (p.Pro861His) n.3858C>A | dbSNP gnomAD v4 |
17 | g.39727896C= | CA2259229307 | ERBB2 | c.3620C= (p.Pro1207=) c.3530C= (p.Pro1177=) c.2792C= (p.Pro931=) c.3575C= (p.Pro1192=) c.*3410C= (n.*3410C=) c.*199C= (n.*199C=) n.3944C= c.3758C= (p.Pro1253=) c.3713C= (p.Pro1238=) c.3668C= (p.Pro1223=) c.3737C= (p.Pro1246=) c.3722C= (p.Pro1241=) c.3701C= (p.Pro1234=) c.3695C= (p.Pro1232=) c.3650C= (p.Pro1217=) c.3641C= (p.Pro1214=) c.3617C= (p.Pro1206=) c.3611C= (p.Pro1204=) c.3584C= (p.Pro1195=) c.3578C= (p.Pro1193=) c.3572C= (p.Pro1191=) c.3533C= (p.Pro1178=) c.3521C= (p.Pro1174=) c.3464C= (p.Pro1155=) c.3440C= (p.Pro1147=) c.3434C= (p.Pro1145=) c.3416C= (p.Pro1139=) c.3362C= (p.Pro1121=) c.2669C= (p.Pro890=) c.2582C= (p.Pro861=) n.3858C= | |
17 | g.39727896C>G | CA399314036 | ERBB2 | c.3620C>G (p.Pro1207Arg) c.3530C>G (p.Pro1177Arg) c.2792C>G (p.Pro931Arg) c.3575C>G (p.Pro1192Arg) c.*3410C>G (n.*3410C>G) c.*199C>G (n.*199C>G) n.3944C>G c.3758C>G (p.Pro1253Arg) c.3713C>G (p.Pro1238Arg) c.3668C>G (p.Pro1223Arg) c.3737C>G (p.Pro1246Arg) c.3722C>G (p.Pro1241Arg) c.3701C>G (p.Pro1234Arg) c.3695C>G (p.Pro1232Arg) c.3650C>G (p.Pro1217Arg) c.3641C>G (p.Pro1214Arg) c.3617C>G (p.Pro1206Arg) c.3611C>G (p.Pro1204Arg) c.3584C>G (p.Pro1195Arg) c.3578C>G (p.Pro1193Arg) c.3572C>G (p.Pro1191Arg) c.3533C>G (p.Pro1178Arg) c.3521C>G (p.Pro1174Arg) c.3464C>G (p.Pro1155Arg) c.3440C>G (p.Pro1147Arg) c.3434C>G (p.Pro1145Arg) c.3416C>G (p.Pro1139Arg) c.3362C>G (p.Pro1121Arg) c.2669C>G (p.Pro890Arg) c.2582C>G (p.Pro861Arg) n.3858C>G | dbSNP |
17 | g.39727896C>T | CA158670 | ERBB2 | c.3620C>T (p.Pro1207Leu) c.3530C>T (p.Pro1177Leu) c.2792C>T (p.Pro931Leu) c.3575C>T (p.Pro1192Leu) c.*3410C>T (n.*3410C>T) c.*199C>T (n.*199C>T) n.3944C>T c.3758C>T (p.Pro1253Leu) c.3713C>T (p.Pro1238Leu) c.3668C>T (p.Pro1223Leu) c.3737C>T (p.Pro1246Leu) c.3722C>T (p.Pro1241Leu) c.3701C>T (p.Pro1234Leu) c.3695C>T (p.Pro1232Leu) c.3650C>T (p.Pro1217Leu) c.3641C>T (p.Pro1214Leu) c.3617C>T (p.Pro1206Leu) c.3611C>T (p.Pro1204Leu) c.3584C>T (p.Pro1195Leu) c.3578C>T (p.Pro1193Leu) c.3572C>T (p.Pro1191Leu) c.3533C>T (p.Pro1178Leu) c.3521C>T (p.Pro1174Leu) c.3464C>T (p.Pro1155Leu) c.3440C>T (p.Pro1147Leu) c.3434C>T (p.Pro1145Leu) c.3416C>T (p.Pro1139Leu) c.3362C>T (p.Pro1121Leu) c.2669C>T (p.Pro890Leu) c.2582C>T (p.Pro861Leu) n.3858C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727897C>A | CA499890814 | ERBB2 | c.3621C>A (p.Pro1207=) c.3531C>A (p.Pro1177=) c.2793C>A (p.Pro931=) c.3576C>A (p.Pro1192=) c.*3411C>A (n.*3411C>A) c.*200C>A (n.*200C>A) n.3945C>A c.3759C>A (p.Pro1253=) c.3714C>A (p.Pro1238=) c.3669C>A (p.Pro1223=) c.3738C>A (p.Pro1246=) c.3723C>A (p.Pro1241=) c.3702C>A (p.Pro1234=) c.3696C>A (p.Pro1232=) c.3651C>A (p.Pro1217=) c.3642C>A (p.Pro1214=) c.3618C>A (p.Pro1206=) c.3612C>A (p.Pro1204=) c.3585C>A (p.Pro1195=) c.3579C>A (p.Pro1193=) c.3573C>A (p.Pro1191=) c.3534C>A (p.Pro1178=) c.3522C>A (p.Pro1174=) c.3465C>A (p.Pro1155=) c.3441C>A (p.Pro1147=) c.3435C>A (p.Pro1145=) c.3417C>A (p.Pro1139=) c.3363C>A (p.Pro1121=) c.2670C>A (p.Pro890=) c.2583C>A (p.Pro861=) n.3859C>A | dbSNP |
17 | g.39727897C>G | CA499890815 | ERBB2 | c.3621C>G (p.Pro1207=) c.3531C>G (p.Pro1177=) c.2793C>G (p.Pro931=) c.3576C>G (p.Pro1192=) c.*3411C>G (n.*3411C>G) c.*200C>G (n.*200C>G) n.3945C>G c.3759C>G (p.Pro1253=) c.3714C>G (p.Pro1238=) c.3669C>G (p.Pro1223=) c.3738C>G (p.Pro1246=) c.3723C>G (p.Pro1241=) c.3702C>G (p.Pro1234=) c.3696C>G (p.Pro1232=) c.3651C>G (p.Pro1217=) c.3642C>G (p.Pro1214=) c.3618C>G (p.Pro1206=) c.3612C>G (p.Pro1204=) c.3585C>G (p.Pro1195=) c.3579C>G (p.Pro1193=) c.3573C>G (p.Pro1191=) c.3534C>G (p.Pro1178=) c.3522C>G (p.Pro1174=) c.3465C>G (p.Pro1155=) c.3441C>G (p.Pro1147=) c.3435C>G (p.Pro1145=) c.3417C>G (p.Pro1139=) c.3363C>G (p.Pro1121=) c.2670C>G (p.Pro890=) c.2583C>G (p.Pro861=) n.3859C>G | dbSNP |
17 | g.39727897C>T | CA499890816 | ERBB2 | c.3621C>T (p.Pro1207=) c.3531C>T (p.Pro1177=) c.2793C>T (p.Pro931=) c.3576C>T (p.Pro1192=) c.*3411C>T (n.*3411C>T) c.*200C>T (n.*200C>T) n.3945C>T c.3759C>T (p.Pro1253=) c.3714C>T (p.Pro1238=) c.3669C>T (p.Pro1223=) c.3738C>T (p.Pro1246=) c.3723C>T (p.Pro1241=) c.3702C>T (p.Pro1234=) c.3696C>T (p.Pro1232=) c.3651C>T (p.Pro1217=) c.3642C>T (p.Pro1214=) c.3618C>T (p.Pro1206=) c.3612C>T (p.Pro1204=) c.3585C>T (p.Pro1195=) c.3579C>T (p.Pro1193=) c.3573C>T (p.Pro1191=) c.3534C>T (p.Pro1178=) c.3522C>T (p.Pro1174=) c.3465C>T (p.Pro1155=) c.3441C>T (p.Pro1147=) c.3435C>T (p.Pro1145=) c.3417C>T (p.Pro1139=) c.3363C>T (p.Pro1121=) c.2670C>T (p.Pro890=) c.2583C>T (p.Pro861=) n.3859C>T | dbSNP |
17 | g.39727898C>A | CA399314044 | ERBB2 | c.3622C>A (p.His1208Asn) c.3532C>A (p.His1178Asn) c.2794C>A (p.His932Asn) c.3577C>A (p.His1193Asn) c.*3412C>A (n.*3412C>A) c.*201C>A (n.*201C>A) n.3946C>A c.3760C>A (p.His1254Asn) c.3715C>A (p.His1239Asn) c.3670C>A (p.His1224Asn) c.3739C>A (p.His1247Asn) c.3724C>A (p.His1242Asn) c.3703C>A (p.His1235Asn) c.3697C>A (p.His1233Asn) c.3652C>A (p.His1218Asn) c.3643C>A (p.His1215Asn) c.3619C>A (p.His1207Asn) c.3613C>A (p.His1205Asn) c.3586C>A (p.His1196Asn) c.3580C>A (p.His1194Asn) c.3574C>A (p.His1192Asn) c.3535C>A (p.His1179Asn) c.3523C>A (p.His1175Asn) c.3466C>A (p.His1156Asn) c.3442C>A (p.His1148Asn) c.3436C>A (p.His1146Asn) c.3418C>A (p.His1140Asn) c.3364C>A (p.His1122Asn) c.2671C>A (p.His891Asn) c.2584C>A (p.His862Asn) n.3860C>A | |
17 | g.39727898C= | CA2259229308 | ERBB2 | c.3622C= (p.His1208=) c.3532C= (p.His1178=) c.2794C= (p.His932=) c.3577C= (p.His1193=) c.*3412C= (n.*3412C=) c.*201C= (n.*201C=) n.3946C= c.3760C= (p.His1254=) c.3715C= (p.His1239=) c.3670C= (p.His1224=) c.3739C= (p.His1247=) c.3724C= (p.His1242=) c.3703C= (p.His1235=) c.3697C= (p.His1233=) c.3652C= (p.His1218=) c.3643C= (p.His1215=) c.3619C= (p.His1207=) c.3613C= (p.His1205=) c.3586C= (p.His1196=) c.3580C= (p.His1194=) c.3574C= (p.His1192=) c.3535C= (p.His1179=) c.3523C= (p.His1175=) c.3466C= (p.His1156=) c.3442C= (p.His1148=) c.3436C= (p.His1146=) c.3418C= (p.His1140=) c.3364C= (p.His1122=) c.2671C= (p.His891=) c.2584C= (p.His862=) n.3860C= | |
17 | g.39727898C>G | CA399314047 | ERBB2 | c.3622C>G (p.His1208Asp) c.3532C>G (p.His1178Asp) c.2794C>G (p.His932Asp) c.3577C>G (p.His1193Asp) c.*3412C>G (n.*3412C>G) c.*201C>G (n.*201C>G) n.3946C>G c.3760C>G (p.His1254Asp) c.3715C>G (p.His1239Asp) c.3670C>G (p.His1224Asp) c.3739C>G (p.His1247Asp) c.3724C>G (p.His1242Asp) c.3703C>G (p.His1235Asp) c.3697C>G (p.His1233Asp) c.3652C>G (p.His1218Asp) c.3643C>G (p.His1215Asp) c.3619C>G (p.His1207Asp) c.3613C>G (p.His1205Asp) c.3586C>G (p.His1196Asp) c.3580C>G (p.His1194Asp) c.3574C>G (p.His1192Asp) c.3535C>G (p.His1179Asp) c.3523C>G (p.His1175Asp) c.3466C>G (p.His1156Asp) c.3442C>G (p.His1148Asp) c.3436C>G (p.His1146Asp) c.3418C>G (p.His1140Asp) c.3364C>G (p.His1122Asp) c.2671C>G (p.His891Asp) c.2584C>G (p.His862Asp) n.3860C>G | |
17 | g.39727898C>T | CA399314049 | ERBB2 | c.3622C>T (p.His1208Tyr) c.3532C>T (p.His1178Tyr) c.2794C>T (p.His932Tyr) c.3577C>T (p.His1193Tyr) c.*3412C>T (n.*3412C>T) c.*201C>T (n.*201C>T) n.3946C>T c.3760C>T (p.His1254Tyr) c.3715C>T (p.His1239Tyr) c.3670C>T (p.His1224Tyr) c.3739C>T (p.His1247Tyr) c.3724C>T (p.His1242Tyr) c.3703C>T (p.His1235Tyr) c.3697C>T (p.His1233Tyr) c.3652C>T (p.His1218Tyr) c.3643C>T (p.His1215Tyr) c.3619C>T (p.His1207Tyr) c.3613C>T (p.His1205Tyr) c.3586C>T (p.His1196Tyr) c.3580C>T (p.His1194Tyr) c.3574C>T (p.His1192Tyr) c.3535C>T (p.His1179Tyr) c.3523C>T (p.His1175Tyr) c.3466C>T (p.His1156Tyr) c.3442C>T (p.His1148Tyr) c.3436C>T (p.His1146Tyr) c.3418C>T (p.His1140Tyr) c.3364C>T (p.His1122Tyr) c.2671C>T (p.His891Tyr) c.2584C>T (p.His862Tyr) n.3860C>T | dbSNP gnomAD v4 |
17 | g.39727899A= | CA2259229309 | ERBB2 | c.3623A= (p.His1208=) c.3533A= (p.His1178=) c.2795A= (p.His932=) c.3578A= (p.His1193=) c.*3413A= (n.*3413A=) c.*202A= (n.*202A=) n.3947A= c.3761A= (p.His1254=) c.3716A= (p.His1239=) c.3671A= (p.His1224=) c.3740A= (p.His1247=) c.3725A= (p.His1242=) c.3704A= (p.His1235=) c.3698A= (p.His1233=) c.3653A= (p.His1218=) c.3644A= (p.His1215=) c.3620A= (p.His1207=) c.3614A= (p.His1205=) c.3587A= (p.His1196=) c.3581A= (p.His1194=) c.3575A= (p.His1192=) c.3536A= (p.His1179=) c.3524A= (p.His1175=) c.3467A= (p.His1156=) c.3443A= (p.His1148=) c.3437A= (p.His1146=) c.3419A= (p.His1140=) c.3365A= (p.His1122=) c.2672A= (p.His891=) c.2585A= (p.His862=) n.3861A= | |
17 | g.39727899A>C | CA399314054 | ERBB2 | c.3623A>C (p.His1208Pro) c.3533A>C (p.His1178Pro) c.2795A>C (p.His932Pro) c.3578A>C (p.His1193Pro) c.*3413A>C (n.*3413A>C) c.*202A>C (n.*202A>C) n.3947A>C c.3761A>C (p.His1254Pro) c.3716A>C (p.His1239Pro) c.3671A>C (p.His1224Pro) c.3740A>C (p.His1247Pro) c.3725A>C (p.His1242Pro) c.3704A>C (p.His1235Pro) c.3698A>C (p.His1233Pro) c.3653A>C (p.His1218Pro) c.3644A>C (p.His1215Pro) c.3620A>C (p.His1207Pro) c.3614A>C (p.His1205Pro) c.3587A>C (p.His1196Pro) c.3581A>C (p.His1194Pro) c.3575A>C (p.His1192Pro) c.3536A>C (p.His1179Pro) c.3524A>C (p.His1175Pro) c.3467A>C (p.His1156Pro) c.3443A>C (p.His1148Pro) c.3437A>C (p.His1146Pro) c.3419A>C (p.His1140Pro) c.3365A>C (p.His1122Pro) c.2672A>C (p.His891Pro) c.2585A>C (p.His862Pro) n.3861A>C | dbSNP gnomAD v4 |
17 | g.39727899A>G | CA399314056 | ERBB2 | c.3623A>G (p.His1208Arg) c.3533A>G (p.His1178Arg) c.2795A>G (p.His932Arg) c.3578A>G (p.His1193Arg) c.*3413A>G (n.*3413A>G) c.*202A>G (n.*202A>G) n.3947A>G c.3761A>G (p.His1254Arg) c.3716A>G (p.His1239Arg) c.3671A>G (p.His1224Arg) c.3740A>G (p.His1247Arg) c.3725A>G (p.His1242Arg) c.3704A>G (p.His1235Arg) c.3698A>G (p.His1233Arg) c.3653A>G (p.His1218Arg) c.3644A>G (p.His1215Arg) c.3620A>G (p.His1207Arg) c.3614A>G (p.His1205Arg) c.3587A>G (p.His1196Arg) c.3581A>G (p.His1194Arg) c.3575A>G (p.His1192Arg) c.3536A>G (p.His1179Arg) c.3524A>G (p.His1175Arg) c.3467A>G (p.His1156Arg) c.3443A>G (p.His1148Arg) c.3437A>G (p.His1146Arg) c.3419A>G (p.His1140Arg) c.3365A>G (p.His1122Arg) c.2672A>G (p.His891Arg) c.2585A>G (p.His862Arg) n.3861A>G | dbSNP gnomAD v4 |
17 | g.39727899A>T | CA399314059 | ERBB2 | c.3623A>T (p.His1208Leu) c.3533A>T (p.His1178Leu) c.2795A>T (p.His932Leu) c.3578A>T (p.His1193Leu) c.*3413A>T (n.*3413A>T) c.*202A>T (n.*202A>T) n.3947A>T c.3761A>T (p.His1254Leu) c.3716A>T (p.His1239Leu) c.3671A>T (p.His1224Leu) c.3740A>T (p.His1247Leu) c.3725A>T (p.His1242Leu) c.3704A>T (p.His1235Leu) c.3698A>T (p.His1233Leu) c.3653A>T (p.His1218Leu) c.3644A>T (p.His1215Leu) c.3620A>T (p.His1207Leu) c.3614A>T (p.His1205Leu) c.3587A>T (p.His1196Leu) c.3581A>T (p.His1194Leu) c.3575A>T (p.His1192Leu) c.3536A>T (p.His1179Leu) c.3524A>T (p.His1175Leu) c.3467A>T (p.His1156Leu) c.3443A>T (p.His1148Leu) c.3437A>T (p.His1146Leu) c.3419A>T (p.His1140Leu) c.3365A>T (p.His1122Leu) c.2672A>T (p.His891Leu) c.2585A>T (p.His862Leu) n.3861A>T | dbSNP |
17 | g.39727900C>A | CA399314064 | ERBB2 | c.3624C>A (p.His1208Gln) c.3534C>A (p.His1178Gln) c.2796C>A (p.His932Gln) c.3579C>A (p.His1193Gln) c.*3414C>A (n.*3414C>A) c.*203C>A (n.*203C>A) n.3948C>A c.3762C>A (p.His1254Gln) c.3717C>A (p.His1239Gln) c.3672C>A (p.His1224Gln) c.3741C>A (p.His1247Gln) c.3726C>A (p.His1242Gln) c.3705C>A (p.His1235Gln) c.3699C>A (p.His1233Gln) c.3654C>A (p.His1218Gln) c.3645C>A (p.His1215Gln) c.3621C>A (p.His1207Gln) c.3615C>A (p.His1205Gln) c.3588C>A (p.His1196Gln) c.3582C>A (p.His1194Gln) c.3576C>A (p.His1192Gln) c.3537C>A (p.His1179Gln) c.3525C>A (p.His1175Gln) c.3468C>A (p.His1156Gln) c.3444C>A (p.His1148Gln) c.3438C>A (p.His1146Gln) c.3420C>A (p.His1140Gln) c.3366C>A (p.His1122Gln) c.2673C>A (p.His891Gln) c.2586C>A (p.His862Gln) n.3862C>A | |
17 | g.39727900C= | CA2259229310 | ERBB2 | c.3624C= (p.His1208=) c.3534C= (p.His1178=) c.2796C= (p.His932=) c.3579C= (p.His1193=) c.*3414C= (n.*3414C=) c.*203C= (n.*203C=) n.3948C= c.3762C= (p.His1254=) c.3717C= (p.His1239=) c.3672C= (p.His1224=) c.3741C= (p.His1247=) c.3726C= (p.His1242=) c.3705C= (p.His1235=) c.3699C= (p.His1233=) c.3654C= (p.His1218=) c.3645C= (p.His1215=) c.3621C= (p.His1207=) c.3615C= (p.His1205=) c.3588C= (p.His1196=) c.3582C= (p.His1194=) c.3576C= (p.His1192=) c.3537C= (p.His1179=) c.3525C= (p.His1175=) c.3468C= (p.His1156=) c.3444C= (p.His1148=) c.3438C= (p.His1146=) c.3420C= (p.His1140=) c.3366C= (p.His1122=) c.2673C= (p.His891=) c.2586C= (p.His862=) n.3862C= | |
17 | g.39727900C>G | CA399314062 | ERBB2 | c.3624C>G (p.His1208Gln) c.3534C>G (p.His1178Gln) c.2796C>G (p.His932Gln) c.3579C>G (p.His1193Gln) c.*3414C>G (n.*3414C>G) c.*203C>G (n.*203C>G) n.3948C>G c.3762C>G (p.His1254Gln) c.3717C>G (p.His1239Gln) c.3672C>G (p.His1224Gln) c.3741C>G (p.His1247Gln) c.3726C>G (p.His1242Gln) c.3705C>G (p.His1235Gln) c.3699C>G (p.His1233Gln) c.3654C>G (p.His1218Gln) c.3645C>G (p.His1215Gln) c.3621C>G (p.His1207Gln) c.3615C>G (p.His1205Gln) c.3588C>G (p.His1196Gln) c.3582C>G (p.His1194Gln) c.3576C>G (p.His1192Gln) c.3537C>G (p.His1179Gln) c.3525C>G (p.His1175Gln) c.3468C>G (p.His1156Gln) c.3444C>G (p.His1148Gln) c.3438C>G (p.His1146Gln) c.3420C>G (p.His1140Gln) c.3366C>G (p.His1122Gln) c.2673C>G (p.His891Gln) c.2586C>G (p.His862Gln) n.3862C>G | |
17 | g.39727900C>T | CA499890820 | ERBB2 | c.3624C>T (p.His1208=) c.3534C>T (p.His1178=) c.2796C>T (p.His932=) c.3579C>T (p.His1193=) c.*3414C>T (n.*3414C>T) c.*203C>T (n.*203C>T) n.3948C>T c.3762C>T (p.His1254=) c.3717C>T (p.His1239=) c.3672C>T (p.His1224=) c.3741C>T (p.His1247=) c.3726C>T (p.His1242=) c.3705C>T (p.His1235=) c.3699C>T (p.His1233=) c.3654C>T (p.His1218=) c.3645C>T (p.His1215=) c.3621C>T (p.His1207=) c.3615C>T (p.His1205=) c.3588C>T (p.His1196=) c.3582C>T (p.His1194=) c.3576C>T (p.His1192=) c.3537C>T (p.His1179=) c.3525C>T (p.His1175=) c.3468C>T (p.His1156=) c.3444C>T (p.His1148=) c.3438C>T (p.His1146=) c.3420C>T (p.His1140=) c.3366C>T (p.His1122=) c.2673C>T (p.His891=) c.2586C>T (p.His862=) n.3862C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727901C>A | CA399314068 | ERBB2 | c.3625C>A (p.Pro1209Thr) c.3535C>A (p.Pro1179Thr) c.2797C>A (p.Pro933Thr) c.3580C>A (p.Pro1194Thr) c.*3415C>A (n.*3415C>A) c.*204C>A (n.*204C>A) n.3949C>A c.3763C>A (p.Pro1255Thr) c.3718C>A (p.Pro1240Thr) c.3673C>A (p.Pro1225Thr) c.3742C>A (p.Pro1248Thr) c.3727C>A (p.Pro1243Thr) c.3706C>A (p.Pro1236Thr) c.3700C>A (p.Pro1234Thr) c.3655C>A (p.Pro1219Thr) c.3646C>A (p.Pro1216Thr) c.3622C>A (p.Pro1208Thr) c.3616C>A (p.Pro1206Thr) c.3589C>A (p.Pro1197Thr) c.3583C>A (p.Pro1195Thr) c.3577C>A (p.Pro1193Thr) c.3538C>A (p.Pro1180Thr) c.3526C>A (p.Pro1176Thr) c.3469C>A (p.Pro1157Thr) c.3445C>A (p.Pro1149Thr) c.3439C>A (p.Pro1147Thr) c.3421C>A (p.Pro1141Thr) c.3367C>A (p.Pro1123Thr) c.2674C>A (p.Pro892Thr) c.2587C>A (p.Pro863Thr) n.3863C>A | dbSNP |
17 | g.39727901C= | CA2259229311 | ERBB2 | c.3625C= (p.Pro1209=) c.3535C= (p.Pro1179=) c.2797C= (p.Pro933=) c.3580C= (p.Pro1194=) c.*3415C= (n.*3415C=) c.*204C= (n.*204C=) n.3949C= c.3763C= (p.Pro1255=) c.3718C= (p.Pro1240=) c.3673C= (p.Pro1225=) c.3742C= (p.Pro1248=) c.3727C= (p.Pro1243=) c.3706C= (p.Pro1236=) c.3700C= (p.Pro1234=) c.3655C= (p.Pro1219=) c.3646C= (p.Pro1216=) c.3622C= (p.Pro1208=) c.3616C= (p.Pro1206=) c.3589C= (p.Pro1197=) c.3583C= (p.Pro1195=) c.3577C= (p.Pro1193=) c.3538C= (p.Pro1180=) c.3526C= (p.Pro1176=) c.3469C= (p.Pro1157=) c.3445C= (p.Pro1149=) c.3439C= (p.Pro1147=) c.3421C= (p.Pro1141=) c.3367C= (p.Pro1123=) c.2674C= (p.Pro892=) c.2587C= (p.Pro863=) n.3863C= | |
17 | g.39727901C>G | CA399314071 | ERBB2 | c.3625C>G (p.Pro1209Ala) c.3535C>G (p.Pro1179Ala) c.2797C>G (p.Pro933Ala) c.3580C>G (p.Pro1194Ala) c.*3415C>G (n.*3415C>G) c.*204C>G (n.*204C>G) n.3949C>G c.3763C>G (p.Pro1255Ala) c.3718C>G (p.Pro1240Ala) c.3673C>G (p.Pro1225Ala) c.3742C>G (p.Pro1248Ala) c.3727C>G (p.Pro1243Ala) c.3706C>G (p.Pro1236Ala) c.3700C>G (p.Pro1234Ala) c.3655C>G (p.Pro1219Ala) c.3646C>G (p.Pro1216Ala) c.3622C>G (p.Pro1208Ala) c.3616C>G (p.Pro1206Ala) c.3589C>G (p.Pro1197Ala) c.3583C>G (p.Pro1195Ala) c.3577C>G (p.Pro1193Ala) c.3538C>G (p.Pro1180Ala) c.3526C>G (p.Pro1176Ala) c.3469C>G (p.Pro1157Ala) c.3445C>G (p.Pro1149Ala) c.3439C>G (p.Pro1147Ala) c.3421C>G (p.Pro1141Ala) c.3367C>G (p.Pro1123Ala) c.2674C>G (p.Pro892Ala) c.2587C>G (p.Pro863Ala) n.3863C>G | dbSNP |
17 | g.39727901C>T | CA399314074 | ERBB2 | c.3625C>T (p.Pro1209Ser) c.3535C>T (p.Pro1179Ser) c.2797C>T (p.Pro933Ser) c.3580C>T (p.Pro1194Ser) c.*3415C>T (n.*3415C>T) c.*204C>T (n.*204C>T) n.3949C>T c.3763C>T (p.Pro1255Ser) c.3718C>T (p.Pro1240Ser) c.3673C>T (p.Pro1225Ser) c.3742C>T (p.Pro1248Ser) c.3727C>T (p.Pro1243Ser) c.3706C>T (p.Pro1236Ser) c.3700C>T (p.Pro1234Ser) c.3655C>T (p.Pro1219Ser) c.3646C>T (p.Pro1216Ser) c.3622C>T (p.Pro1208Ser) c.3616C>T (p.Pro1206Ser) c.3589C>T (p.Pro1197Ser) c.3583C>T (p.Pro1195Ser) c.3577C>T (p.Pro1193Ser) c.3538C>T (p.Pro1180Ser) c.3526C>T (p.Pro1176Ser) c.3469C>T (p.Pro1157Ser) c.3445C>T (p.Pro1149Ser) c.3439C>T (p.Pro1147Ser) c.3421C>T (p.Pro1141Ser) c.3367C>T (p.Pro1123Ser) c.2674C>T (p.Pro892Ser) c.2587C>T (p.Pro863Ser) n.3863C>T | dbSNP |
17 | g.39727907_39727909del | CA2637630913 | ERBB2 | c.3631_3633del (p.Pro1211del) c.3541_3543del (p.Pro1181del) c.2803_2805del (p.Pro935del) c.3586_3588del (p.Pro1196del) c.*3421_*3423del (n.*3421_*3423del) c.*210_*212del (n.*210_*212del) n.3955_3957del c.3769_3771del (p.Pro1257del) c.3724_3726del (p.Pro1242del) c.3679_3681del (p.Pro1227del) c.3748_3750del (p.Pro1250del) c.3733_3735del (p.Pro1245del) c.3712_3714del (p.Pro1238del) c.3706_3708del (p.Pro1236del) c.3661_3663del (p.Pro1221del) c.3652_3654del (p.Pro1218del) c.3628_3630del (p.Pro1210del) c.3622_3624del (p.Pro1208del) c.3595_3597del (p.Pro1199del) c.3589_3591del (p.Pro1197del) c.3583_3585del (p.Pro1195del) c.3544_3546del (p.Pro1182del) c.3532_3534del (p.Pro1178del) c.3475_3477del (p.Pro1159del) c.3451_3453del (p.Pro1151del) c.3445_3447del (p.Pro1149del) c.3427_3429del (p.Pro1143del) c.3373_3375del (p.Pro1125del) c.2680_2682del (p.Pro894del) c.2593_2595del (p.Pro865del) n.3869_3871del | gnomAD v4 |
17 | g.39727902C>A | CA399314077 | ERBB2 | c.3626C>A (p.Pro1209His) c.3536C>A (p.Pro1179His) c.2798C>A (p.Pro933His) c.3581C>A (p.Pro1194His) c.*3416C>A (n.*3416C>A) c.*205C>A (n.*205C>A) n.3950C>A c.3764C>A (p.Pro1255His) c.3719C>A (p.Pro1240His) c.3674C>A (p.Pro1225His) c.3743C>A (p.Pro1248His) c.3728C>A (p.Pro1243His) c.3707C>A (p.Pro1236His) c.3701C>A (p.Pro1234His) c.3656C>A (p.Pro1219His) c.3647C>A (p.Pro1216His) c.3623C>A (p.Pro1208His) c.3617C>A (p.Pro1206His) c.3590C>A (p.Pro1197His) c.3584C>A (p.Pro1195His) c.3578C>A (p.Pro1193His) c.3539C>A (p.Pro1180His) c.3527C>A (p.Pro1176His) c.3470C>A (p.Pro1157His) c.3446C>A (p.Pro1149His) c.3440C>A (p.Pro1147His) c.3422C>A (p.Pro1141His) c.3368C>A (p.Pro1123His) c.2675C>A (p.Pro892His) c.2588C>A (p.Pro863His) n.3864C>A | dbSNP |
17 | g.39727902C= | CA2259229312 | ERBB2 | c.3626C= (p.Pro1209=) c.3536C= (p.Pro1179=) c.2798C= (p.Pro933=) c.3581C= (p.Pro1194=) c.*3416C= (n.*3416C=) c.*205C= (n.*205C=) n.3950C= c.3764C= (p.Pro1255=) c.3719C= (p.Pro1240=) c.3674C= (p.Pro1225=) c.3743C= (p.Pro1248=) c.3728C= (p.Pro1243=) c.3707C= (p.Pro1236=) c.3701C= (p.Pro1234=) c.3656C= (p.Pro1219=) c.3647C= (p.Pro1216=) c.3623C= (p.Pro1208=) c.3617C= (p.Pro1206=) c.3590C= (p.Pro1197=) c.3584C= (p.Pro1195=) c.3578C= (p.Pro1193=) c.3539C= (p.Pro1180=) c.3527C= (p.Pro1176=) c.3470C= (p.Pro1157=) c.3446C= (p.Pro1149=) c.3440C= (p.Pro1147=) c.3422C= (p.Pro1141=) c.3368C= (p.Pro1123=) c.2675C= (p.Pro892=) c.2588C= (p.Pro863=) n.3864C= | |
17 | g.39727902C>G | CA399314080 | ERBB2 | c.3626C>G (p.Pro1209Arg) c.3536C>G (p.Pro1179Arg) c.2798C>G (p.Pro933Arg) c.3581C>G (p.Pro1194Arg) c.*3416C>G (n.*3416C>G) c.*205C>G (n.*205C>G) n.3950C>G c.3764C>G (p.Pro1255Arg) c.3719C>G (p.Pro1240Arg) c.3674C>G (p.Pro1225Arg) c.3743C>G (p.Pro1248Arg) c.3728C>G (p.Pro1243Arg) c.3707C>G (p.Pro1236Arg) c.3701C>G (p.Pro1234Arg) c.3656C>G (p.Pro1219Arg) c.3647C>G (p.Pro1216Arg) c.3623C>G (p.Pro1208Arg) c.3617C>G (p.Pro1206Arg) c.3590C>G (p.Pro1197Arg) c.3584C>G (p.Pro1195Arg) c.3578C>G (p.Pro1193Arg) c.3539C>G (p.Pro1180Arg) c.3527C>G (p.Pro1176Arg) c.3470C>G (p.Pro1157Arg) c.3446C>G (p.Pro1149Arg) c.3440C>G (p.Pro1147Arg) c.3422C>G (p.Pro1141Arg) c.3368C>G (p.Pro1123Arg) c.2675C>G (p.Pro892Arg) c.2588C>G (p.Pro863Arg) n.3864C>G | ClinVar dbSNP gnomAD v4 |
17 | g.39727902C>T | CA399314083 | ERBB2 | c.3626C>T (p.Pro1209Leu) c.3536C>T (p.Pro1179Leu) c.2798C>T (p.Pro933Leu) c.3581C>T (p.Pro1194Leu) c.*3416C>T (n.*3416C>T) c.*205C>T (n.*205C>T) n.3950C>T c.3764C>T (p.Pro1255Leu) c.3719C>T (p.Pro1240Leu) c.3674C>T (p.Pro1225Leu) c.3743C>T (p.Pro1248Leu) c.3728C>T (p.Pro1243Leu) c.3707C>T (p.Pro1236Leu) c.3701C>T (p.Pro1234Leu) c.3656C>T (p.Pro1219Leu) c.3647C>T (p.Pro1216Leu) c.3623C>T (p.Pro1208Leu) c.3617C>T (p.Pro1206Leu) c.3590C>T (p.Pro1197Leu) c.3584C>T (p.Pro1195Leu) c.3578C>T (p.Pro1193Leu) c.3539C>T (p.Pro1180Leu) c.3527C>T (p.Pro1176Leu) c.3470C>T (p.Pro1157Leu) c.3446C>T (p.Pro1149Leu) c.3440C>T (p.Pro1147Leu) c.3422C>T (p.Pro1141Leu) c.3368C>T (p.Pro1123Leu) c.2675C>T (p.Pro892Leu) c.2588C>T (p.Pro863Leu) n.3864C>T | dbSNP |
17 | g.39727903T>A | CA499890822 | ERBB2 | c.3627T>A (p.Pro1209=) c.3537T>A (p.Pro1179=) c.2799T>A (p.Pro933=) c.3582T>A (p.Pro1194=) c.*3417T>A (n.*3417T>A) c.*206T>A (n.*206T>A) n.3951T>A c.3765T>A (p.Pro1255=) c.3720T>A (p.Pro1240=) c.3675T>A (p.Pro1225=) c.3744T>A (p.Pro1248=) c.3729T>A (p.Pro1243=) c.3708T>A (p.Pro1236=) c.3702T>A (p.Pro1234=) c.3657T>A (p.Pro1219=) c.3648T>A (p.Pro1216=) c.3624T>A (p.Pro1208=) c.3618T>A (p.Pro1206=) c.3591T>A (p.Pro1197=) c.3585T>A (p.Pro1195=) c.3579T>A (p.Pro1193=) c.3540T>A (p.Pro1180=) c.3528T>A (p.Pro1176=) c.3471T>A (p.Pro1157=) c.3447T>A (p.Pro1149=) c.3441T>A (p.Pro1147=) c.3423T>A (p.Pro1141=) c.3369T>A (p.Pro1123=) c.2676T>A (p.Pro892=) c.2589T>A (p.Pro863=) n.3865T>A | dbSNP |
17 | g.39727903T>C | CA499890823 | ERBB2 | c.3627T>C (p.Pro1209=) c.3537T>C (p.Pro1179=) c.2799T>C (p.Pro933=) c.3582T>C (p.Pro1194=) c.*3417T>C (n.*3417T>C) c.*206T>C (n.*206T>C) n.3951T>C c.3765T>C (p.Pro1255=) c.3720T>C (p.Pro1240=) c.3675T>C (p.Pro1225=) c.3744T>C (p.Pro1248=) c.3729T>C (p.Pro1243=) c.3708T>C (p.Pro1236=) c.3702T>C (p.Pro1234=) c.3657T>C (p.Pro1219=) c.3648T>C (p.Pro1216=) c.3624T>C (p.Pro1208=) c.3618T>C (p.Pro1206=) c.3591T>C (p.Pro1197=) c.3585T>C (p.Pro1195=) c.3579T>C (p.Pro1193=) c.3540T>C (p.Pro1180=) c.3528T>C (p.Pro1176=) c.3471T>C (p.Pro1157=) c.3447T>C (p.Pro1149=) c.3441T>C (p.Pro1147=) c.3423T>C (p.Pro1141=) c.3369T>C (p.Pro1123=) c.2676T>C (p.Pro892=) c.2589T>C (p.Pro863=) n.3865T>C | |
17 | g.39727903T>G | CA499890824 | ERBB2 | c.3627T>G (p.Pro1209=) c.3537T>G (p.Pro1179=) c.2799T>G (p.Pro933=) c.3582T>G (p.Pro1194=) c.*3417T>G (n.*3417T>G) c.*206T>G (n.*206T>G) n.3951T>G c.3765T>G (p.Pro1255=) c.3720T>G (p.Pro1240=) c.3675T>G (p.Pro1225=) c.3744T>G (p.Pro1248=) c.3729T>G (p.Pro1243=) c.3708T>G (p.Pro1236=) c.3702T>G (p.Pro1234=) c.3657T>G (p.Pro1219=) c.3648T>G (p.Pro1216=) c.3624T>G (p.Pro1208=) c.3618T>G (p.Pro1206=) c.3591T>G (p.Pro1197=) c.3585T>G (p.Pro1195=) c.3579T>G (p.Pro1193=) c.3540T>G (p.Pro1180=) c.3528T>G (p.Pro1176=) c.3471T>G (p.Pro1157=) c.3447T>G (p.Pro1149=) c.3441T>G (p.Pro1147=) c.3423T>G (p.Pro1141=) c.3369T>G (p.Pro1123=) c.2676T>G (p.Pro892=) c.2589T>G (p.Pro863=) n.3865T>G | |
17 | g.39727904C>A | CA399314087 | ERBB2 | c.3628C>A (p.Pro1210Thr) c.3538C>A (p.Pro1180Thr) c.2800C>A (p.Pro934Thr) c.3583C>A (p.Pro1195Thr) c.*3418C>A (n.*3418C>A) c.*207C>A (n.*207C>A) n.3952C>A c.3766C>A (p.Pro1256Thr) c.3721C>A (p.Pro1241Thr) c.3676C>A (p.Pro1226Thr) c.3745C>A (p.Pro1249Thr) c.3730C>A (p.Pro1244Thr) c.3709C>A (p.Pro1237Thr) c.3703C>A (p.Pro1235Thr) c.3658C>A (p.Pro1220Thr) c.3649C>A (p.Pro1217Thr) c.3625C>A (p.Pro1209Thr) c.3619C>A (p.Pro1207Thr) c.3592C>A (p.Pro1198Thr) c.3586C>A (p.Pro1196Thr) c.3580C>A (p.Pro1194Thr) c.3541C>A (p.Pro1181Thr) c.3529C>A (p.Pro1177Thr) c.3472C>A (p.Pro1158Thr) c.3448C>A (p.Pro1150Thr) c.3442C>A (p.Pro1148Thr) c.3424C>A (p.Pro1142Thr) c.3370C>A (p.Pro1124Thr) c.2677C>A (p.Pro893Thr) c.2590C>A (p.Pro864Thr) n.3866C>A | dbSNP |
17 | g.39727904C= | CA2259229313 | ERBB2 | c.3628C= (p.Pro1210=) c.3538C= (p.Pro1180=) c.2800C= (p.Pro934=) c.3583C= (p.Pro1195=) c.*3418C= (n.*3418C=) c.*207C= (n.*207C=) n.3952C= c.3766C= (p.Pro1256=) c.3721C= (p.Pro1241=) c.3676C= (p.Pro1226=) c.3745C= (p.Pro1249=) c.3730C= (p.Pro1244=) c.3709C= (p.Pro1237=) c.3703C= (p.Pro1235=) c.3658C= (p.Pro1220=) c.3649C= (p.Pro1217=) c.3625C= (p.Pro1209=) c.3619C= (p.Pro1207=) c.3592C= (p.Pro1198=) c.3586C= (p.Pro1196=) c.3580C= (p.Pro1194=) c.3541C= (p.Pro1181=) c.3529C= (p.Pro1177=) c.3472C= (p.Pro1158=) c.3448C= (p.Pro1150=) c.3442C= (p.Pro1148=) c.3424C= (p.Pro1142=) c.3370C= (p.Pro1124=) c.2677C= (p.Pro893=) c.2590C= (p.Pro864=) n.3866C= | |
17 | g.39727904C>G | CA399314090 | ERBB2 | c.3628C>G (p.Pro1210Ala) c.3538C>G (p.Pro1180Ala) c.2800C>G (p.Pro934Ala) c.3583C>G (p.Pro1195Ala) c.*3418C>G (n.*3418C>G) c.*207C>G (n.*207C>G) n.3952C>G c.3766C>G (p.Pro1256Ala) c.3721C>G (p.Pro1241Ala) c.3676C>G (p.Pro1226Ala) c.3745C>G (p.Pro1249Ala) c.3730C>G (p.Pro1244Ala) c.3709C>G (p.Pro1237Ala) c.3703C>G (p.Pro1235Ala) c.3658C>G (p.Pro1220Ala) c.3649C>G (p.Pro1217Ala) c.3625C>G (p.Pro1209Ala) c.3619C>G (p.Pro1207Ala) c.3592C>G (p.Pro1198Ala) c.3586C>G (p.Pro1196Ala) c.3580C>G (p.Pro1194Ala) c.3541C>G (p.Pro1181Ala) c.3529C>G (p.Pro1177Ala) c.3472C>G (p.Pro1158Ala) c.3448C>G (p.Pro1150Ala) c.3442C>G (p.Pro1148Ala) c.3424C>G (p.Pro1142Ala) c.3370C>G (p.Pro1124Ala) c.2677C>G (p.Pro893Ala) c.2590C>G (p.Pro864Ala) n.3866C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727904C>T | CA399314093 | ERBB2 | c.3628C>T (p.Pro1210Ser) c.3538C>T (p.Pro1180Ser) c.2800C>T (p.Pro934Ser) c.3583C>T (p.Pro1195Ser) c.*3418C>T (n.*3418C>T) c.*207C>T (n.*207C>T) n.3952C>T c.3766C>T (p.Pro1256Ser) c.3721C>T (p.Pro1241Ser) c.3676C>T (p.Pro1226Ser) c.3745C>T (p.Pro1249Ser) c.3730C>T (p.Pro1244Ser) c.3709C>T (p.Pro1237Ser) c.3703C>T (p.Pro1235Ser) c.3658C>T (p.Pro1220Ser) c.3649C>T (p.Pro1217Ser) c.3625C>T (p.Pro1209Ser) c.3619C>T (p.Pro1207Ser) c.3592C>T (p.Pro1198Ser) c.3586C>T (p.Pro1196Ser) c.3580C>T (p.Pro1194Ser) c.3541C>T (p.Pro1181Ser) c.3529C>T (p.Pro1177Ser) c.3472C>T (p.Pro1158Ser) c.3448C>T (p.Pro1150Ser) c.3442C>T (p.Pro1148Ser) c.3424C>T (p.Pro1142Ser) c.3370C>T (p.Pro1124Ser) c.2677C>T (p.Pro893Ser) c.2590C>T (p.Pro864Ser) n.3866C>T | dbSNP COSMIC |
17 | g.39727905C>A | CA399314103 | ERBB2 | c.3629C>A (p.Pro1210His) c.3539C>A (p.Pro1180His) c.2801C>A (p.Pro934His) c.3584C>A (p.Pro1195His) c.*3419C>A (n.*3419C>A) c.*208C>A (n.*208C>A) n.3953C>A c.3767C>A (p.Pro1256His) c.3722C>A (p.Pro1241His) c.3677C>A (p.Pro1226His) c.3746C>A (p.Pro1249His) c.3731C>A (p.Pro1244His) c.3710C>A (p.Pro1237His) c.3704C>A (p.Pro1235His) c.3659C>A (p.Pro1220His) c.3650C>A (p.Pro1217His) c.3626C>A (p.Pro1209His) c.3620C>A (p.Pro1207His) c.3593C>A (p.Pro1198His) c.3587C>A (p.Pro1196His) c.3581C>A (p.Pro1194His) c.3542C>A (p.Pro1181His) c.3530C>A (p.Pro1177His) c.3473C>A (p.Pro1158His) c.3449C>A (p.Pro1150His) c.3443C>A (p.Pro1148His) c.3425C>A (p.Pro1142His) c.3371C>A (p.Pro1124His) c.2678C>A (p.Pro893His) c.2591C>A (p.Pro864His) n.3867C>A | dbSNP |
17 | g.39727905C>G | CA399314109 | ERBB2 | c.3629C>G (p.Pro1210Arg) c.3539C>G (p.Pro1180Arg) c.2801C>G (p.Pro934Arg) c.3584C>G (p.Pro1195Arg) c.*3419C>G (n.*3419C>G) c.*208C>G (n.*208C>G) n.3953C>G c.3767C>G (p.Pro1256Arg) c.3722C>G (p.Pro1241Arg) c.3677C>G (p.Pro1226Arg) c.3746C>G (p.Pro1249Arg) c.3731C>G (p.Pro1244Arg) c.3710C>G (p.Pro1237Arg) c.3704C>G (p.Pro1235Arg) c.3659C>G (p.Pro1220Arg) c.3650C>G (p.Pro1217Arg) c.3626C>G (p.Pro1209Arg) c.3620C>G (p.Pro1207Arg) c.3593C>G (p.Pro1198Arg) c.3587C>G (p.Pro1196Arg) c.3581C>G (p.Pro1194Arg) c.3542C>G (p.Pro1181Arg) c.3530C>G (p.Pro1177Arg) c.3473C>G (p.Pro1158Arg) c.3449C>G (p.Pro1150Arg) c.3443C>G (p.Pro1148Arg) c.3425C>G (p.Pro1142Arg) c.3371C>G (p.Pro1124Arg) c.2678C>G (p.Pro893Arg) c.2591C>G (p.Pro864Arg) n.3867C>G | |
17 | g.39727905C>T | CA399314111 | ERBB2 | c.3629C>T (p.Pro1210Leu) c.3539C>T (p.Pro1180Leu) c.2801C>T (p.Pro934Leu) c.3584C>T (p.Pro1195Leu) c.*3419C>T (n.*3419C>T) c.*208C>T (n.*208C>T) n.3953C>T c.3767C>T (p.Pro1256Leu) c.3722C>T (p.Pro1241Leu) c.3677C>T (p.Pro1226Leu) c.3746C>T (p.Pro1249Leu) c.3731C>T (p.Pro1244Leu) c.3710C>T (p.Pro1237Leu) c.3704C>T (p.Pro1235Leu) c.3659C>T (p.Pro1220Leu) c.3650C>T (p.Pro1217Leu) c.3626C>T (p.Pro1209Leu) c.3620C>T (p.Pro1207Leu) c.3593C>T (p.Pro1198Leu) c.3587C>T (p.Pro1196Leu) c.3581C>T (p.Pro1194Leu) c.3542C>T (p.Pro1181Leu) c.3530C>T (p.Pro1177Leu) c.3473C>T (p.Pro1158Leu) c.3449C>T (p.Pro1150Leu) c.3443C>T (p.Pro1148Leu) c.3425C>T (p.Pro1142Leu) c.3371C>T (p.Pro1124Leu) c.2678C>T (p.Pro893Leu) c.2591C>T (p.Pro864Leu) n.3867C>T | dbSNP |
17 | g.39727906T>A | CA499890825 | ERBB2 | c.3630T>A (p.Pro1210=) c.3540T>A (p.Pro1180=) c.2802T>A (p.Pro934=) c.3585T>A (p.Pro1195=) c.*3420T>A (n.*3420T>A) c.*209T>A (n.*209T>A) n.3954T>A c.3768T>A (p.Pro1256=) c.3723T>A (p.Pro1241=) c.3678T>A (p.Pro1226=) c.3747T>A (p.Pro1249=) c.3732T>A (p.Pro1244=) c.3711T>A (p.Pro1237=) c.3705T>A (p.Pro1235=) c.3660T>A (p.Pro1220=) c.3651T>A (p.Pro1217=) c.3627T>A (p.Pro1209=) c.3621T>A (p.Pro1207=) c.3594T>A (p.Pro1198=) c.3588T>A (p.Pro1196=) c.3582T>A (p.Pro1194=) c.3543T>A (p.Pro1181=) c.3531T>A (p.Pro1177=) c.3474T>A (p.Pro1158=) c.3450T>A (p.Pro1150=) c.3444T>A (p.Pro1148=) c.3426T>A (p.Pro1142=) c.3372T>A (p.Pro1124=) c.2679T>A (p.Pro893=) c.2592T>A (p.Pro864=) n.3868T>A | dbSNP |
17 | g.39727906T>C | CA8534593 | ERBB2 | c.3630T>C (p.Pro1210=) c.3540T>C (p.Pro1180=) c.2802T>C (p.Pro934=) c.3585T>C (p.Pro1195=) c.*3420T>C (n.*3420T>C) c.*209T>C (n.*209T>C) n.3954T>C c.3768T>C (p.Pro1256=) c.3723T>C (p.Pro1241=) c.3678T>C (p.Pro1226=) c.3747T>C (p.Pro1249=) c.3732T>C (p.Pro1244=) c.3711T>C (p.Pro1237=) c.3705T>C (p.Pro1235=) c.3660T>C (p.Pro1220=) c.3651T>C (p.Pro1217=) c.3627T>C (p.Pro1209=) c.3621T>C (p.Pro1207=) c.3594T>C (p.Pro1198=) c.3588T>C (p.Pro1196=) c.3582T>C (p.Pro1194=) c.3543T>C (p.Pro1181=) c.3531T>C (p.Pro1177=) c.3474T>C (p.Pro1158=) c.3450T>C (p.Pro1150=) c.3444T>C (p.Pro1148=) c.3426T>C (p.Pro1142=) c.3372T>C (p.Pro1124=) c.2679T>C (p.Pro893=) c.2592T>C (p.Pro864=) n.3868T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727906T>G | CA499890827 | ERBB2 | c.3630T>G (p.Pro1210=) c.3540T>G (p.Pro1180=) c.2802T>G (p.Pro934=) c.3585T>G (p.Pro1195=) c.*3420T>G (n.*3420T>G) c.*209T>G (n.*209T>G) n.3954T>G c.3768T>G (p.Pro1256=) c.3723T>G (p.Pro1241=) c.3678T>G (p.Pro1226=) c.3747T>G (p.Pro1249=) c.3732T>G (p.Pro1244=) c.3711T>G (p.Pro1237=) c.3705T>G (p.Pro1235=) c.3660T>G (p.Pro1220=) c.3651T>G (p.Pro1217=) c.3627T>G (p.Pro1209=) c.3621T>G (p.Pro1207=) c.3594T>G (p.Pro1198=) c.3588T>G (p.Pro1196=) c.3582T>G (p.Pro1194=) c.3543T>G (p.Pro1181=) c.3531T>G (p.Pro1177=) c.3474T>G (p.Pro1158=) c.3450T>G (p.Pro1150=) c.3444T>G (p.Pro1148=) c.3426T>G (p.Pro1142=) c.3372T>G (p.Pro1124=) c.2679T>G (p.Pro893=) c.2592T>G (p.Pro864=) n.3868T>G | |
17 | g.39727906T= | CA2259229314 | ERBB2 | c.3630T= (p.Pro1210=) c.3540T= (p.Pro1180=) c.2802T= (p.Pro934=) c.3585T= (p.Pro1195=) c.*3420T= (n.*3420T=) c.*209T= (n.*209T=) n.3954T= c.3768T= (p.Pro1256=) c.3723T= (p.Pro1241=) c.3678T= (p.Pro1226=) c.3747T= (p.Pro1249=) c.3732T= (p.Pro1244=) c.3711T= (p.Pro1237=) c.3705T= (p.Pro1235=) c.3660T= (p.Pro1220=) c.3651T= (p.Pro1217=) c.3627T= (p.Pro1209=) c.3621T= (p.Pro1207=) c.3594T= (p.Pro1198=) c.3588T= (p.Pro1196=) c.3582T= (p.Pro1194=) c.3543T= (p.Pro1181=) c.3531T= (p.Pro1177=) c.3474T= (p.Pro1158=) c.3450T= (p.Pro1150=) c.3444T= (p.Pro1148=) c.3426T= (p.Pro1142=) c.3372T= (p.Pro1124=) c.2679T= (p.Pro893=) c.2592T= (p.Pro864=) n.3868T= | |
17 | g.39727907C>A | CA399314122 | ERBB2 | c.3631C>A (p.Pro1211Thr) c.3541C>A (p.Pro1181Thr) c.2803C>A (p.Pro935Thr) c.3586C>A (p.Pro1196Thr) c.*3421C>A (n.*3421C>A) c.*210C>A (n.*210C>A) n.3955C>A c.3769C>A (p.Pro1257Thr) c.3724C>A (p.Pro1242Thr) c.3679C>A (p.Pro1227Thr) c.3748C>A (p.Pro1250Thr) c.3733C>A (p.Pro1245Thr) c.3712C>A (p.Pro1238Thr) c.3706C>A (p.Pro1236Thr) c.3661C>A (p.Pro1221Thr) c.3652C>A (p.Pro1218Thr) c.3628C>A (p.Pro1210Thr) c.3622C>A (p.Pro1208Thr) c.3595C>A (p.Pro1199Thr) c.3589C>A (p.Pro1197Thr) c.3583C>A (p.Pro1195Thr) c.3544C>A (p.Pro1182Thr) c.3532C>A (p.Pro1178Thr) c.3475C>A (p.Pro1159Thr) c.3451C>A (p.Pro1151Thr) c.3445C>A (p.Pro1149Thr) c.3427C>A (p.Pro1143Thr) c.3373C>A (p.Pro1125Thr) c.2680C>A (p.Pro894Thr) c.2593C>A (p.Pro865Thr) n.3869C>A | |
17 | g.39727907C>G | CA399314117 | ERBB2 | c.3631C>G (p.Pro1211Ala) c.3541C>G (p.Pro1181Ala) c.2803C>G (p.Pro935Ala) c.3586C>G (p.Pro1196Ala) c.*3421C>G (n.*3421C>G) c.*210C>G (n.*210C>G) n.3955C>G c.3769C>G (p.Pro1257Ala) c.3724C>G (p.Pro1242Ala) c.3679C>G (p.Pro1227Ala) c.3748C>G (p.Pro1250Ala) c.3733C>G (p.Pro1245Ala) c.3712C>G (p.Pro1238Ala) c.3706C>G (p.Pro1236Ala) c.3661C>G (p.Pro1221Ala) c.3652C>G (p.Pro1218Ala) c.3628C>G (p.Pro1210Ala) c.3622C>G (p.Pro1208Ala) c.3595C>G (p.Pro1199Ala) c.3589C>G (p.Pro1197Ala) c.3583C>G (p.Pro1195Ala) c.3544C>G (p.Pro1182Ala) c.3532C>G (p.Pro1178Ala) c.3475C>G (p.Pro1159Ala) c.3451C>G (p.Pro1151Ala) c.3445C>G (p.Pro1149Ala) c.3427C>G (p.Pro1143Ala) c.3373C>G (p.Pro1125Ala) c.2680C>G (p.Pro894Ala) c.2593C>G (p.Pro865Ala) n.3869C>G | dbSNP |
17 | g.39727907C>T | CA399314119 | ERBB2 | c.3631C>T (p.Pro1211Ser) c.3541C>T (p.Pro1181Ser) c.2803C>T (p.Pro935Ser) c.3586C>T (p.Pro1196Ser) c.*3421C>T (n.*3421C>T) c.*210C>T (n.*210C>T) n.3955C>T c.3769C>T (p.Pro1257Ser) c.3724C>T (p.Pro1242Ser) c.3679C>T (p.Pro1227Ser) c.3748C>T (p.Pro1250Ser) c.3733C>T (p.Pro1245Ser) c.3712C>T (p.Pro1238Ser) c.3706C>T (p.Pro1236Ser) c.3661C>T (p.Pro1221Ser) c.3652C>T (p.Pro1218Ser) c.3628C>T (p.Pro1210Ser) c.3622C>T (p.Pro1208Ser) c.3595C>T (p.Pro1199Ser) c.3589C>T (p.Pro1197Ser) c.3583C>T (p.Pro1195Ser) c.3544C>T (p.Pro1182Ser) c.3532C>T (p.Pro1178Ser) c.3475C>T (p.Pro1159Ser) c.3451C>T (p.Pro1151Ser) c.3445C>T (p.Pro1149Ser) c.3427C>T (p.Pro1143Ser) c.3373C>T (p.Pro1125Ser) c.2680C>T (p.Pro894Ser) c.2593C>T (p.Pro865Ser) n.3869C>T | |
17 | g.39727908C>A | CA399314126 | ERBB2 | c.3632C>A (p.Pro1211His) c.3542C>A (p.Pro1181His) c.2804C>A (p.Pro935His) c.3587C>A (p.Pro1196His) c.*3422C>A (n.*3422C>A) c.*211C>A (n.*211C>A) n.3956C>A c.3770C>A (p.Pro1257His) c.3725C>A (p.Pro1242His) c.3680C>A (p.Pro1227His) c.3749C>A (p.Pro1250His) c.3734C>A (p.Pro1245His) c.3713C>A (p.Pro1238His) c.3707C>A (p.Pro1236His) c.3662C>A (p.Pro1221His) c.3653C>A (p.Pro1218His) c.3629C>A (p.Pro1210His) c.3623C>A (p.Pro1208His) c.3596C>A (p.Pro1199His) c.3590C>A (p.Pro1197His) c.3584C>A (p.Pro1195His) c.3545C>A (p.Pro1182His) c.3533C>A (p.Pro1178His) c.3476C>A (p.Pro1159His) c.3452C>A (p.Pro1151His) c.3446C>A (p.Pro1149His) c.3428C>A (p.Pro1143His) c.3374C>A (p.Pro1125His) c.2681C>A (p.Pro894His) c.2594C>A (p.Pro865His) n.3870C>A | dbSNP |
17 | g.39727908C>G | CA399314127 | ERBB2 | c.3632C>G (p.Pro1211Arg) c.3542C>G (p.Pro1181Arg) c.2804C>G (p.Pro935Arg) c.3587C>G (p.Pro1196Arg) c.*3422C>G (n.*3422C>G) c.*211C>G (n.*211C>G) n.3956C>G c.3770C>G (p.Pro1257Arg) c.3725C>G (p.Pro1242Arg) c.3680C>G (p.Pro1227Arg) c.3749C>G (p.Pro1250Arg) c.3734C>G (p.Pro1245Arg) c.3713C>G (p.Pro1238Arg) c.3707C>G (p.Pro1236Arg) c.3662C>G (p.Pro1221Arg) c.3653C>G (p.Pro1218Arg) c.3629C>G (p.Pro1210Arg) c.3623C>G (p.Pro1208Arg) c.3596C>G (p.Pro1199Arg) c.3590C>G (p.Pro1197Arg) c.3584C>G (p.Pro1195Arg) c.3545C>G (p.Pro1182Arg) c.3533C>G (p.Pro1178Arg) c.3476C>G (p.Pro1159Arg) c.3452C>G (p.Pro1151Arg) c.3446C>G (p.Pro1149Arg) c.3428C>G (p.Pro1143Arg) c.3374C>G (p.Pro1125Arg) c.2681C>G (p.Pro894Arg) c.2594C>G (p.Pro865Arg) n.3870C>G | dbSNP |
17 | g.39727908C>T | CA399314129 | ERBB2 | c.3632C>T (p.Pro1211Leu) c.3542C>T (p.Pro1181Leu) c.2804C>T (p.Pro935Leu) c.3587C>T (p.Pro1196Leu) c.*3422C>T (n.*3422C>T) c.*211C>T (n.*211C>T) n.3956C>T c.3770C>T (p.Pro1257Leu) c.3725C>T (p.Pro1242Leu) c.3680C>T (p.Pro1227Leu) c.3749C>T (p.Pro1250Leu) c.3734C>T (p.Pro1245Leu) c.3713C>T (p.Pro1238Leu) c.3707C>T (p.Pro1236Leu) c.3662C>T (p.Pro1221Leu) c.3653C>T (p.Pro1218Leu) c.3629C>T (p.Pro1210Leu) c.3623C>T (p.Pro1208Leu) c.3596C>T (p.Pro1199Leu) c.3590C>T (p.Pro1197Leu) c.3584C>T (p.Pro1195Leu) c.3545C>T (p.Pro1182Leu) c.3533C>T (p.Pro1178Leu) c.3476C>T (p.Pro1159Leu) c.3452C>T (p.Pro1151Leu) c.3446C>T (p.Pro1149Leu) c.3428C>T (p.Pro1143Leu) c.3374C>T (p.Pro1125Leu) c.2681C>T (p.Pro894Leu) c.2594C>T (p.Pro865Leu) n.3870C>T | dbSNP |
17 | g.39727909T>A | CA499890829 | ERBB2 | c.3633T>A (p.Pro1211=) c.3543T>A (p.Pro1181=) c.2805T>A (p.Pro935=) c.3588T>A (p.Pro1196=) c.*3423T>A (n.*3423T>A) c.*212T>A (n.*212T>A) n.3957T>A c.3771T>A (p.Pro1257=) c.3726T>A (p.Pro1242=) c.3681T>A (p.Pro1227=) c.3750T>A (p.Pro1250=) c.3735T>A (p.Pro1245=) c.3714T>A (p.Pro1238=) c.3708T>A (p.Pro1236=) c.3663T>A (p.Pro1221=) c.3654T>A (p.Pro1218=) c.3630T>A (p.Pro1210=) c.3624T>A (p.Pro1208=) c.3597T>A (p.Pro1199=) c.3591T>A (p.Pro1197=) c.3585T>A (p.Pro1195=) c.3546T>A (p.Pro1182=) c.3534T>A (p.Pro1178=) c.3477T>A (p.Pro1159=) c.3453T>A (p.Pro1151=) c.3447T>A (p.Pro1149=) c.3429T>A (p.Pro1143=) c.3375T>A (p.Pro1125=) c.2682T>A (p.Pro894=) c.2595T>A (p.Pro865=) n.3871T>A | dbSNP |
17 | g.39727909T>C | CA499890831 | ERBB2 | c.3633T>C (p.Pro1211=) c.3543T>C (p.Pro1181=) c.2805T>C (p.Pro935=) c.3588T>C (p.Pro1196=) c.*3423T>C (n.*3423T>C) c.*212T>C (n.*212T>C) n.3957T>C c.3771T>C (p.Pro1257=) c.3726T>C (p.Pro1242=) c.3681T>C (p.Pro1227=) c.3750T>C (p.Pro1250=) c.3735T>C (p.Pro1245=) c.3714T>C (p.Pro1238=) c.3708T>C (p.Pro1236=) c.3663T>C (p.Pro1221=) c.3654T>C (p.Pro1218=) c.3630T>C (p.Pro1210=) c.3624T>C (p.Pro1208=) c.3597T>C (p.Pro1199=) c.3591T>C (p.Pro1197=) c.3585T>C (p.Pro1195=) c.3546T>C (p.Pro1182=) c.3534T>C (p.Pro1178=) c.3477T>C (p.Pro1159=) c.3453T>C (p.Pro1151=) c.3447T>C (p.Pro1149=) c.3429T>C (p.Pro1143=) c.3375T>C (p.Pro1125=) c.2682T>C (p.Pro894=) c.2595T>C (p.Pro865=) n.3871T>C | dbSNP |
17 | g.39727909T>G | CA499890833 | ERBB2 | c.3633T>G (p.Pro1211=) c.3543T>G (p.Pro1181=) c.2805T>G (p.Pro935=) c.3588T>G (p.Pro1196=) c.*3423T>G (n.*3423T>G) c.*212T>G (n.*212T>G) n.3957T>G c.3771T>G (p.Pro1257=) c.3726T>G (p.Pro1242=) c.3681T>G (p.Pro1227=) c.3750T>G (p.Pro1250=) c.3735T>G (p.Pro1245=) c.3714T>G (p.Pro1238=) c.3708T>G (p.Pro1236=) c.3663T>G (p.Pro1221=) c.3654T>G (p.Pro1218=) c.3630T>G (p.Pro1210=) c.3624T>G (p.Pro1208=) c.3597T>G (p.Pro1199=) c.3591T>G (p.Pro1197=) c.3585T>G (p.Pro1195=) c.3546T>G (p.Pro1182=) c.3534T>G (p.Pro1178=) c.3477T>G (p.Pro1159=) c.3453T>G (p.Pro1151=) c.3447T>G (p.Pro1149=) c.3429T>G (p.Pro1143=) c.3375T>G (p.Pro1125=) c.2682T>G (p.Pro894=) c.2595T>G (p.Pro865=) n.3871T>G | |
17 | g.39727910G>A | CA399314131 | ERBB2 | c.3634G>A (p.Ala1212Thr) c.3544G>A (p.Ala1182Thr) c.2806G>A (p.Ala936Thr) c.3589G>A (p.Ala1197Thr) c.*3424G>A (n.*3424G>A) c.*213G>A (n.*213G>A) n.3958G>A c.3772G>A (p.Ala1258Thr) c.3727G>A (p.Ala1243Thr) c.3682G>A (p.Ala1228Thr) c.3751G>A (p.Ala1251Thr) c.3736G>A (p.Ala1246Thr) c.3715G>A (p.Ala1239Thr) c.3709G>A (p.Ala1237Thr) c.3664G>A (p.Ala1222Thr) c.3655G>A (p.Ala1219Thr) c.3631G>A (p.Ala1211Thr) c.3625G>A (p.Ala1209Thr) c.3598G>A (p.Ala1200Thr) c.3592G>A (p.Ala1198Thr) c.3586G>A (p.Ala1196Thr) c.3547G>A (p.Ala1183Thr) c.3535G>A (p.Ala1179Thr) c.3478G>A (p.Ala1160Thr) c.3454G>A (p.Ala1152Thr) c.3448G>A (p.Ala1150Thr) c.3430G>A (p.Ala1144Thr) c.3376G>A (p.Ala1126Thr) c.2683G>A (p.Ala895Thr) c.2596G>A (p.Ala866Thr) n.3872G>A | dbSNP |
17 | g.39727910G>C | CA399314135 | ERBB2 | c.3634G>C (p.Ala1212Pro) c.3544G>C (p.Ala1182Pro) c.2806G>C (p.Ala936Pro) c.3589G>C (p.Ala1197Pro) c.*3424G>C (n.*3424G>C) c.*213G>C (n.*213G>C) n.3958G>C c.3772G>C (p.Ala1258Pro) c.3727G>C (p.Ala1243Pro) c.3682G>C (p.Ala1228Pro) c.3751G>C (p.Ala1251Pro) c.3736G>C (p.Ala1246Pro) c.3715G>C (p.Ala1239Pro) c.3709G>C (p.Ala1237Pro) c.3664G>C (p.Ala1222Pro) c.3655G>C (p.Ala1219Pro) c.3631G>C (p.Ala1211Pro) c.3625G>C (p.Ala1209Pro) c.3598G>C (p.Ala1200Pro) c.3592G>C (p.Ala1198Pro) c.3586G>C (p.Ala1196Pro) c.3547G>C (p.Ala1183Pro) c.3535G>C (p.Ala1179Pro) c.3478G>C (p.Ala1160Pro) c.3454G>C (p.Ala1152Pro) c.3448G>C (p.Ala1150Pro) c.3430G>C (p.Ala1144Pro) c.3376G>C (p.Ala1126Pro) c.2683G>C (p.Ala895Pro) c.2596G>C (p.Ala866Pro) n.3872G>C | dbSNP |
17 | g.39727910G>T | CA399314138 | ERBB2 | c.3634G>T (p.Ala1212Ser) c.3544G>T (p.Ala1182Ser) c.2806G>T (p.Ala936Ser) c.3589G>T (p.Ala1197Ser) c.*3424G>T (n.*3424G>T) c.*213G>T (n.*213G>T) n.3958G>T c.3772G>T (p.Ala1258Ser) c.3727G>T (p.Ala1243Ser) c.3682G>T (p.Ala1228Ser) c.3751G>T (p.Ala1251Ser) c.3736G>T (p.Ala1246Ser) c.3715G>T (p.Ala1239Ser) c.3709G>T (p.Ala1237Ser) c.3664G>T (p.Ala1222Ser) c.3655G>T (p.Ala1219Ser) c.3631G>T (p.Ala1211Ser) c.3625G>T (p.Ala1209Ser) c.3598G>T (p.Ala1200Ser) c.3592G>T (p.Ala1198Ser) c.3586G>T (p.Ala1196Ser) c.3547G>T (p.Ala1183Ser) c.3535G>T (p.Ala1179Ser) c.3478G>T (p.Ala1160Ser) c.3454G>T (p.Ala1152Ser) c.3448G>T (p.Ala1150Ser) c.3430G>T (p.Ala1144Ser) c.3376G>T (p.Ala1126Ser) c.2683G>T (p.Ala895Ser) c.2596G>T (p.Ala866Ser) n.3872G>T | dbSNP |
17 | g.39727911C>A | CA399314145 | ERBB2 | c.3635C>A (p.Ala1212Asp) c.3545C>A (p.Ala1182Asp) c.2807C>A (p.Ala936Asp) c.3590C>A (p.Ala1197Asp) c.*3425C>A (n.*3425C>A) c.*214C>A (n.*214C>A) n.3959C>A c.3773C>A (p.Ala1258Asp) c.3728C>A (p.Ala1243Asp) c.3683C>A (p.Ala1228Asp) c.3752C>A (p.Ala1251Asp) c.3737C>A (p.Ala1246Asp) c.3716C>A (p.Ala1239Asp) c.3710C>A (p.Ala1237Asp) c.3665C>A (p.Ala1222Asp) c.3656C>A (p.Ala1219Asp) c.3632C>A (p.Ala1211Asp) c.3626C>A (p.Ala1209Asp) c.3599C>A (p.Ala1200Asp) c.3593C>A (p.Ala1198Asp) c.3587C>A (p.Ala1196Asp) c.3548C>A (p.Ala1183Asp) c.3536C>A (p.Ala1179Asp) c.3479C>A (p.Ala1160Asp) c.3455C>A (p.Ala1152Asp) c.3449C>A (p.Ala1150Asp) c.3431C>A (p.Ala1144Asp) c.3377C>A (p.Ala1126Asp) c.2684C>A (p.Ala895Asp) c.2597C>A (p.Ala866Asp) n.3873C>A | dbSNP |
17 | g.39727911C= | CA2259229315 | ERBB2 | c.3635C= (p.Ala1212=) c.3545C= (p.Ala1182=) c.2807C= (p.Ala936=) c.3590C= (p.Ala1197=) c.*3425C= (n.*3425C=) c.*214C= (n.*214C=) n.3959C= c.3773C= (p.Ala1258=) c.3728C= (p.Ala1243=) c.3683C= (p.Ala1228=) c.3752C= (p.Ala1251=) c.3737C= (p.Ala1246=) c.3716C= (p.Ala1239=) c.3710C= (p.Ala1237=) c.3665C= (p.Ala1222=) c.3656C= (p.Ala1219=) c.3632C= (p.Ala1211=) c.3626C= (p.Ala1209=) c.3599C= (p.Ala1200=) c.3593C= (p.Ala1198=) c.3587C= (p.Ala1196=) c.3548C= (p.Ala1183=) c.3536C= (p.Ala1179=) c.3479C= (p.Ala1160=) c.3455C= (p.Ala1152=) c.3449C= (p.Ala1150=) c.3431C= (p.Ala1144=) c.3377C= (p.Ala1126=) c.2684C= (p.Ala895=) c.2597C= (p.Ala866=) n.3873C= | |
17 | g.39727911C>G | CA399314147 | ERBB2 | c.3635C>G (p.Ala1212Gly) c.3545C>G (p.Ala1182Gly) c.2807C>G (p.Ala936Gly) c.3590C>G (p.Ala1197Gly) c.*3425C>G (n.*3425C>G) c.*214C>G (n.*214C>G) n.3959C>G c.3773C>G (p.Ala1258Gly) c.3728C>G (p.Ala1243Gly) c.3683C>G (p.Ala1228Gly) c.3752C>G (p.Ala1251Gly) c.3737C>G (p.Ala1246Gly) c.3716C>G (p.Ala1239Gly) c.3710C>G (p.Ala1237Gly) c.3665C>G (p.Ala1222Gly) c.3656C>G (p.Ala1219Gly) c.3632C>G (p.Ala1211Gly) c.3626C>G (p.Ala1209Gly) c.3599C>G (p.Ala1200Gly) c.3593C>G (p.Ala1198Gly) c.3587C>G (p.Ala1196Gly) c.3548C>G (p.Ala1183Gly) c.3536C>G (p.Ala1179Gly) c.3479C>G (p.Ala1160Gly) c.3455C>G (p.Ala1152Gly) c.3449C>G (p.Ala1150Gly) c.3431C>G (p.Ala1144Gly) c.3377C>G (p.Ala1126Gly) c.2684C>G (p.Ala895Gly) c.2597C>G (p.Ala866Gly) n.3873C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727911C>T | CA399314149 | ERBB2 | c.3635C>T (p.Ala1212Val) c.3545C>T (p.Ala1182Val) c.2807C>T (p.Ala936Val) c.3590C>T (p.Ala1197Val) c.*3425C>T (n.*3425C>T) c.*214C>T (n.*214C>T) n.3959C>T c.3773C>T (p.Ala1258Val) c.3728C>T (p.Ala1243Val) c.3683C>T (p.Ala1228Val) c.3752C>T (p.Ala1251Val) c.3737C>T (p.Ala1246Val) c.3716C>T (p.Ala1239Val) c.3710C>T (p.Ala1237Val) c.3665C>T (p.Ala1222Val) c.3656C>T (p.Ala1219Val) c.3632C>T (p.Ala1211Val) c.3626C>T (p.Ala1209Val) c.3599C>T (p.Ala1200Val) c.3593C>T (p.Ala1198Val) c.3587C>T (p.Ala1196Val) c.3548C>T (p.Ala1183Val) c.3536C>T (p.Ala1179Val) c.3479C>T (p.Ala1160Val) c.3455C>T (p.Ala1152Val) c.3449C>T (p.Ala1150Val) c.3431C>T (p.Ala1144Val) c.3377C>T (p.Ala1126Val) c.2684C>T (p.Ala895Val) c.2597C>T (p.Ala866Val) n.3873C>T | dbSNP gnomAD v4 |
17 | g.39727912C>A | CA499890834 | ERBB2 | c.3636C>A (p.Ala1212=) c.3546C>A (p.Ala1182=) c.2808C>A (p.Ala936=) c.3591C>A (p.Ala1197=) c.*3426C>A (n.*3426C>A) c.*215C>A (n.*215C>A) n.3960C>A c.3774C>A (p.Ala1258=) c.3729C>A (p.Ala1243=) c.3684C>A (p.Ala1228=) c.3753C>A (p.Ala1251=) c.3738C>A (p.Ala1246=) c.3717C>A (p.Ala1239=) c.3711C>A (p.Ala1237=) c.3666C>A (p.Ala1222=) c.3657C>A (p.Ala1219=) c.3633C>A (p.Ala1211=) c.3627C>A (p.Ala1209=) c.3600C>A (p.Ala1200=) c.3594C>A (p.Ala1198=) c.3588C>A (p.Ala1196=) c.3549C>A (p.Ala1183=) c.3537C>A (p.Ala1179=) c.3480C>A (p.Ala1160=) c.3456C>A (p.Ala1152=) c.3450C>A (p.Ala1150=) c.3432C>A (p.Ala1144=) c.3378C>A (p.Ala1126=) c.2685C>A (p.Ala895=) c.2598C>A (p.Ala866=) n.3874C>A | |
17 | g.39727912C>G | CA499890835 | ERBB2 | c.3636C>G (p.Ala1212=) c.3546C>G (p.Ala1182=) c.2808C>G (p.Ala936=) c.3591C>G (p.Ala1197=) c.*3426C>G (n.*3426C>G) c.*215C>G (n.*215C>G) n.3960C>G c.3774C>G (p.Ala1258=) c.3729C>G (p.Ala1243=) c.3684C>G (p.Ala1228=) c.3753C>G (p.Ala1251=) c.3738C>G (p.Ala1246=) c.3717C>G (p.Ala1239=) c.3711C>G (p.Ala1237=) c.3666C>G (p.Ala1222=) c.3657C>G (p.Ala1219=) c.3633C>G (p.Ala1211=) c.3627C>G (p.Ala1209=) c.3600C>G (p.Ala1200=) c.3594C>G (p.Ala1198=) c.3588C>G (p.Ala1196=) c.3549C>G (p.Ala1183=) c.3537C>G (p.Ala1179=) c.3480C>G (p.Ala1160=) c.3456C>G (p.Ala1152=) c.3450C>G (p.Ala1150=) c.3432C>G (p.Ala1144=) c.3378C>G (p.Ala1126=) c.2685C>G (p.Ala895=) c.2598C>G (p.Ala866=) n.3874C>G | |
17 | g.39727912C>T | CA499890836 | ERBB2 | c.3636C>T (p.Ala1212=) c.3546C>T (p.Ala1182=) c.2808C>T (p.Ala936=) c.3591C>T (p.Ala1197=) c.*3426C>T (n.*3426C>T) c.*215C>T (n.*215C>T) n.3960C>T c.3774C>T (p.Ala1258=) c.3729C>T (p.Ala1243=) c.3684C>T (p.Ala1228=) c.3753C>T (p.Ala1251=) c.3738C>T (p.Ala1246=) c.3717C>T (p.Ala1239=) c.3711C>T (p.Ala1237=) c.3666C>T (p.Ala1222=) c.3657C>T (p.Ala1219=) c.3633C>T (p.Ala1211=) c.3627C>T (p.Ala1209=) c.3600C>T (p.Ala1200=) c.3594C>T (p.Ala1198=) c.3588C>T (p.Ala1196=) c.3549C>T (p.Ala1183=) c.3537C>T (p.Ala1179=) c.3480C>T (p.Ala1160=) c.3456C>T (p.Ala1152=) c.3450C>T (p.Ala1150=) c.3432C>T (p.Ala1144=) c.3378C>T (p.Ala1126=) c.2685C>T (p.Ala895=) c.2598C>T (p.Ala866=) n.3874C>T | |
17 | g.39727913T>A | CA399314151 | ERBB2 | c.3637T>A (p.Phe1213Ile) c.3547T>A (p.Phe1183Ile) c.2809T>A (p.Phe937Ile) c.3592T>A (p.Phe1198Ile) c.*3427T>A (n.*3427T>A) c.*216T>A (n.*216T>A) n.3961T>A c.3775T>A (p.Phe1259Ile) c.3730T>A (p.Phe1244Ile) c.3685T>A (p.Phe1229Ile) c.3754T>A (p.Phe1252Ile) c.3739T>A (p.Phe1247Ile) c.3718T>A (p.Phe1240Ile) c.3712T>A (p.Phe1238Ile) c.3667T>A (p.Phe1223Ile) c.3658T>A (p.Phe1220Ile) c.3634T>A (p.Phe1212Ile) c.3628T>A (p.Phe1210Ile) c.3601T>A (p.Phe1201Ile) c.3595T>A (p.Phe1199Ile) c.3589T>A (p.Phe1197Ile) c.3550T>A (p.Phe1184Ile) c.3538T>A (p.Phe1180Ile) c.3481T>A (p.Phe1161Ile) c.3457T>A (p.Phe1153Ile) c.3451T>A (p.Phe1151Ile) c.3433T>A (p.Phe1145Ile) c.3379T>A (p.Phe1127Ile) c.2686T>A (p.Phe896Ile) c.2599T>A (p.Phe867Ile) n.3875T>A | dbSNP |
17 | g.39727913T>C | CA399314154 | ERBB2 | c.3637T>C (p.Phe1213Leu) c.3547T>C (p.Phe1183Leu) c.2809T>C (p.Phe937Leu) c.3592T>C (p.Phe1198Leu) c.*3427T>C (n.*3427T>C) c.*216T>C (n.*216T>C) n.3961T>C c.3775T>C (p.Phe1259Leu) c.3730T>C (p.Phe1244Leu) c.3685T>C (p.Phe1229Leu) c.3754T>C (p.Phe1252Leu) c.3739T>C (p.Phe1247Leu) c.3718T>C (p.Phe1240Leu) c.3712T>C (p.Phe1238Leu) c.3667T>C (p.Phe1223Leu) c.3658T>C (p.Phe1220Leu) c.3634T>C (p.Phe1212Leu) c.3628T>C (p.Phe1210Leu) c.3601T>C (p.Phe1201Leu) c.3595T>C (p.Phe1199Leu) c.3589T>C (p.Phe1197Leu) c.3550T>C (p.Phe1184Leu) c.3538T>C (p.Phe1180Leu) c.3481T>C (p.Phe1161Leu) c.3457T>C (p.Phe1153Leu) c.3451T>C (p.Phe1151Leu) c.3433T>C (p.Phe1145Leu) c.3379T>C (p.Phe1127Leu) c.2686T>C (p.Phe896Leu) c.2599T>C (p.Phe867Leu) n.3875T>C | dbSNP |
17 | g.39727913T>G | CA399314157 | ERBB2 | c.3637T>G (p.Phe1213Val) c.3547T>G (p.Phe1183Val) c.2809T>G (p.Phe937Val) c.3592T>G (p.Phe1198Val) c.*3427T>G (n.*3427T>G) c.*216T>G (n.*216T>G) n.3961T>G c.3775T>G (p.Phe1259Val) c.3730T>G (p.Phe1244Val) c.3685T>G (p.Phe1229Val) c.3754T>G (p.Phe1252Val) c.3739T>G (p.Phe1247Val) c.3718T>G (p.Phe1240Val) c.3712T>G (p.Phe1238Val) c.3667T>G (p.Phe1223Val) c.3658T>G (p.Phe1220Val) c.3634T>G (p.Phe1212Val) c.3628T>G (p.Phe1210Val) c.3601T>G (p.Phe1201Val) c.3595T>G (p.Phe1199Val) c.3589T>G (p.Phe1197Val) c.3550T>G (p.Phe1184Val) c.3538T>G (p.Phe1180Val) c.3481T>G (p.Phe1161Val) c.3457T>G (p.Phe1153Val) c.3451T>G (p.Phe1151Val) c.3433T>G (p.Phe1145Val) c.3379T>G (p.Phe1127Val) c.2686T>G (p.Phe896Val) c.2599T>G (p.Phe867Val) n.3875T>G | |
17 | g.39727914T>A | CA399314167 | ERBB2 | c.3638T>A (p.Phe1213Tyr) c.3548T>A (p.Phe1183Tyr) c.2810T>A (p.Phe937Tyr) c.3593T>A (p.Phe1198Tyr) c.*3428T>A (n.*3428T>A) c.*217T>A (n.*217T>A) n.3962T>A c.3776T>A (p.Phe1259Tyr) c.3731T>A (p.Phe1244Tyr) c.3686T>A (p.Phe1229Tyr) c.3755T>A (p.Phe1252Tyr) c.3740T>A (p.Phe1247Tyr) c.3719T>A (p.Phe1240Tyr) c.3713T>A (p.Phe1238Tyr) c.3668T>A (p.Phe1223Tyr) c.3659T>A (p.Phe1220Tyr) c.3635T>A (p.Phe1212Tyr) c.3629T>A (p.Phe1210Tyr) c.3602T>A (p.Phe1201Tyr) c.3596T>A (p.Phe1199Tyr) c.3590T>A (p.Phe1197Tyr) c.3551T>A (p.Phe1184Tyr) c.3539T>A (p.Phe1180Tyr) c.3482T>A (p.Phe1161Tyr) c.3458T>A (p.Phe1153Tyr) c.3452T>A (p.Phe1151Tyr) c.3434T>A (p.Phe1145Tyr) c.3380T>A (p.Phe1127Tyr) c.2687T>A (p.Phe896Tyr) c.2600T>A (p.Phe867Tyr) n.3876T>A | gnomAD v4 |
17 | g.39727914T>C | CA399314163 | ERBB2 | c.3638T>C (p.Phe1213Ser) c.3548T>C (p.Phe1183Ser) c.2810T>C (p.Phe937Ser) c.3593T>C (p.Phe1198Ser) c.*3428T>C (n.*3428T>C) c.*217T>C (n.*217T>C) n.3962T>C c.3776T>C (p.Phe1259Ser) c.3731T>C (p.Phe1244Ser) c.3686T>C (p.Phe1229Ser) c.3755T>C (p.Phe1252Ser) c.3740T>C (p.Phe1247Ser) c.3719T>C (p.Phe1240Ser) c.3713T>C (p.Phe1238Ser) c.3668T>C (p.Phe1223Ser) c.3659T>C (p.Phe1220Ser) c.3635T>C (p.Phe1212Ser) c.3629T>C (p.Phe1210Ser) c.3602T>C (p.Phe1201Ser) c.3596T>C (p.Phe1199Ser) c.3590T>C (p.Phe1197Ser) c.3551T>C (p.Phe1184Ser) c.3539T>C (p.Phe1180Ser) c.3482T>C (p.Phe1161Ser) c.3458T>C (p.Phe1153Ser) c.3452T>C (p.Phe1151Ser) c.3434T>C (p.Phe1145Ser) c.3380T>C (p.Phe1127Ser) c.2687T>C (p.Phe896Ser) c.2600T>C (p.Phe867Ser) n.3876T>C | |
17 | g.39727914T>G | CA399314160 | ERBB2 | c.3638T>G (p.Phe1213Cys) c.3548T>G (p.Phe1183Cys) c.2810T>G (p.Phe937Cys) c.3593T>G (p.Phe1198Cys) c.*3428T>G (n.*3428T>G) c.*217T>G (n.*217T>G) n.3962T>G c.3776T>G (p.Phe1259Cys) c.3731T>G (p.Phe1244Cys) c.3686T>G (p.Phe1229Cys) c.3755T>G (p.Phe1252Cys) c.3740T>G (p.Phe1247Cys) c.3719T>G (p.Phe1240Cys) c.3713T>G (p.Phe1238Cys) c.3668T>G (p.Phe1223Cys) c.3659T>G (p.Phe1220Cys) c.3635T>G (p.Phe1212Cys) c.3629T>G (p.Phe1210Cys) c.3602T>G (p.Phe1201Cys) c.3596T>G (p.Phe1199Cys) c.3590T>G (p.Phe1197Cys) c.3551T>G (p.Phe1184Cys) c.3539T>G (p.Phe1180Cys) c.3482T>G (p.Phe1161Cys) c.3458T>G (p.Phe1153Cys) c.3452T>G (p.Phe1151Cys) c.3434T>G (p.Phe1145Cys) c.3380T>G (p.Phe1127Cys) c.2687T>G (p.Phe896Cys) c.2600T>G (p.Phe867Cys) n.3876T>G | |
17 | g.39727915C>A | CA399314174 | ERBB2 | c.3639C>A (p.Phe1213Leu) c.3549C>A (p.Phe1183Leu) c.2811C>A (p.Phe937Leu) c.3594C>A (p.Phe1198Leu) c.*3429C>A (n.*3429C>A) c.*218C>A (n.*218C>A) n.3963C>A c.3777C>A (p.Phe1259Leu) c.3732C>A (p.Phe1244Leu) c.3687C>A (p.Phe1229Leu) c.3756C>A (p.Phe1252Leu) c.3741C>A (p.Phe1247Leu) c.3720C>A (p.Phe1240Leu) c.3714C>A (p.Phe1238Leu) c.3669C>A (p.Phe1223Leu) c.3660C>A (p.Phe1220Leu) c.3636C>A (p.Phe1212Leu) c.3630C>A (p.Phe1210Leu) c.3603C>A (p.Phe1201Leu) c.3597C>A (p.Phe1199Leu) c.3591C>A (p.Phe1197Leu) c.3552C>A (p.Phe1184Leu) c.3540C>A (p.Phe1180Leu) c.3483C>A (p.Phe1161Leu) c.3459C>A (p.Phe1153Leu) c.3453C>A (p.Phe1151Leu) c.3435C>A (p.Phe1145Leu) c.3381C>A (p.Phe1127Leu) c.2688C>A (p.Phe896Leu) c.2601C>A (p.Phe867Leu) n.3877C>A | |
17 | g.39727915C= | CA2259229316 | ERBB2 | c.3639C= (p.Phe1213=) c.3549C= (p.Phe1183=) c.2811C= (p.Phe937=) c.3594C= (p.Phe1198=) c.*3429C= (n.*3429C=) c.*218C= (n.*218C=) n.3963C= c.3777C= (p.Phe1259=) c.3732C= (p.Phe1244=) c.3687C= (p.Phe1229=) c.3756C= (p.Phe1252=) c.3741C= (p.Phe1247=) c.3720C= (p.Phe1240=) c.3714C= (p.Phe1238=) c.3669C= (p.Phe1223=) c.3660C= (p.Phe1220=) c.3636C= (p.Phe1212=) c.3630C= (p.Phe1210=) c.3603C= (p.Phe1201=) c.3597C= (p.Phe1199=) c.3591C= (p.Phe1197=) c.3552C= (p.Phe1184=) c.3540C= (p.Phe1180=) c.3483C= (p.Phe1161=) c.3459C= (p.Phe1153=) c.3453C= (p.Phe1151=) c.3435C= (p.Phe1145=) c.3381C= (p.Phe1127=) c.2688C= (p.Phe896=) c.2601C= (p.Phe867=) n.3877C= | |
17 | g.39727915C>G | CA399314171 | ERBB2 | c.3639C>G (p.Phe1213Leu) c.3549C>G (p.Phe1183Leu) c.2811C>G (p.Phe937Leu) c.3594C>G (p.Phe1198Leu) c.*3429C>G (n.*3429C>G) c.*218C>G (n.*218C>G) n.3963C>G c.3777C>G (p.Phe1259Leu) c.3732C>G (p.Phe1244Leu) c.3687C>G (p.Phe1229Leu) c.3756C>G (p.Phe1252Leu) c.3741C>G (p.Phe1247Leu) c.3720C>G (p.Phe1240Leu) c.3714C>G (p.Phe1238Leu) c.3669C>G (p.Phe1223Leu) c.3660C>G (p.Phe1220Leu) c.3636C>G (p.Phe1212Leu) c.3630C>G (p.Phe1210Leu) c.3603C>G (p.Phe1201Leu) c.3597C>G (p.Phe1199Leu) c.3591C>G (p.Phe1197Leu) c.3552C>G (p.Phe1184Leu) c.3540C>G (p.Phe1180Leu) c.3483C>G (p.Phe1161Leu) c.3459C>G (p.Phe1153Leu) c.3453C>G (p.Phe1151Leu) c.3435C>G (p.Phe1145Leu) c.3381C>G (p.Phe1127Leu) c.2688C>G (p.Phe896Leu) c.2601C>G (p.Phe867Leu) n.3877C>G | |
17 | g.39727915C>T | CA499890840 | ERBB2 | c.3639C>T (p.Phe1213=) c.3549C>T (p.Phe1183=) c.2811C>T (p.Phe937=) c.3594C>T (p.Phe1198=) c.*3429C>T (n.*3429C>T) c.*218C>T (n.*218C>T) n.3963C>T c.3777C>T (p.Phe1259=) c.3732C>T (p.Phe1244=) c.3687C>T (p.Phe1229=) c.3756C>T (p.Phe1252=) c.3741C>T (p.Phe1247=) c.3720C>T (p.Phe1240=) c.3714C>T (p.Phe1238=) c.3669C>T (p.Phe1223=) c.3660C>T (p.Phe1220=) c.3636C>T (p.Phe1212=) c.3630C>T (p.Phe1210=) c.3603C>T (p.Phe1201=) c.3597C>T (p.Phe1199=) c.3591C>T (p.Phe1197=) c.3552C>T (p.Phe1184=) c.3540C>T (p.Phe1180=) c.3483C>T (p.Phe1161=) c.3459C>T (p.Phe1153=) c.3453C>T (p.Phe1151=) c.3435C>T (p.Phe1145=) c.3381C>T (p.Phe1127=) c.2688C>T (p.Phe896=) c.2601C>T (p.Phe867=) n.3877C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.39727916A>C | CA399314179 | ERBB2 | c.3640A>C (p.Ser1214Arg) c.3550A>C (p.Ser1184Arg) c.2812A>C (p.Ser938Arg) c.3595A>C (p.Ser1199Arg) c.*3430A>C (n.*3430A>C) c.*219A>C (n.*219A>C) n.3964A>C c.3778A>C (p.Ser1260Arg) c.3733A>C (p.Ser1245Arg) c.3688A>C (p.Ser1230Arg) c.3757A>C (p.Ser1253Arg) c.3742A>C (p.Ser1248Arg) c.3721A>C (p.Ser1241Arg) c.3715A>C (p.Ser1239Arg) c.3670A>C (p.Ser1224Arg) c.3661A>C (p.Ser1221Arg) c.3637A>C (p.Ser1213Arg) c.3631A>C (p.Ser1211Arg) c.3604A>C (p.Ser1202Arg) c.3598A>C (p.Ser1200Arg) c.3592A>C (p.Ser1198Arg) c.3553A>C (p.Ser1185Arg) c.3541A>C (p.Ser1181Arg) c.3484A>C (p.Ser1162Arg) c.3460A>C (p.Ser1154Arg) c.3454A>C (p.Ser1152Arg) c.3436A>C (p.Ser1146Arg) c.3382A>C (p.Ser1128Arg) c.2689A>C (p.Ser897Arg) c.2602A>C (p.Ser868Arg) n.3878A>C | dbSNP |
17 | g.39727916A>G | CA399314181 | ERBB2 | c.3640A>G (p.Ser1214Gly) c.3550A>G (p.Ser1184Gly) c.2812A>G (p.Ser938Gly) c.3595A>G (p.Ser1199Gly) c.*3430A>G (n.*3430A>G) c.*219A>G (n.*219A>G) n.3964A>G c.3778A>G (p.Ser1260Gly) c.3733A>G (p.Ser1245Gly) c.3688A>G (p.Ser1230Gly) c.3757A>G (p.Ser1253Gly) c.3742A>G (p.Ser1248Gly) c.3721A>G (p.Ser1241Gly) c.3715A>G (p.Ser1239Gly) c.3670A>G (p.Ser1224Gly) c.3661A>G (p.Ser1221Gly) c.3637A>G (p.Ser1213Gly) c.3631A>G (p.Ser1211Gly) c.3604A>G (p.Ser1202Gly) c.3598A>G (p.Ser1200Gly) c.3592A>G (p.Ser1198Gly) c.3553A>G (p.Ser1185Gly) c.3541A>G (p.Ser1181Gly) c.3484A>G (p.Ser1162Gly) c.3460A>G (p.Ser1154Gly) c.3454A>G (p.Ser1152Gly) c.3436A>G (p.Ser1146Gly) c.3382A>G (p.Ser1128Gly) c.2689A>G (p.Ser897Gly) c.2602A>G (p.Ser868Gly) n.3878A>G | |
17 | g.39727916A>T | CA399314185 | ERBB2 | c.3640A>T (p.Ser1214Cys) c.3550A>T (p.Ser1184Cys) c.2812A>T (p.Ser938Cys) c.3595A>T (p.Ser1199Cys) c.*3430A>T (n.*3430A>T) c.*219A>T (n.*219A>T) n.3964A>T c.3778A>T (p.Ser1260Cys) c.3733A>T (p.Ser1245Cys) c.3688A>T (p.Ser1230Cys) c.3757A>T (p.Ser1253Cys) c.3742A>T (p.Ser1248Cys) c.3721A>T (p.Ser1241Cys) c.3715A>T (p.Ser1239Cys) c.3670A>T (p.Ser1224Cys) c.3661A>T (p.Ser1221Cys) c.3637A>T (p.Ser1213Cys) c.3631A>T (p.Ser1211Cys) c.3604A>T (p.Ser1202Cys) c.3598A>T (p.Ser1200Cys) c.3592A>T (p.Ser1198Cys) c.3553A>T (p.Ser1185Cys) c.3541A>T (p.Ser1181Cys) c.3484A>T (p.Ser1162Cys) c.3460A>T (p.Ser1154Cys) c.3454A>T (p.Ser1152Cys) c.3436A>T (p.Ser1146Cys) c.3382A>T (p.Ser1128Cys) c.2689A>T (p.Ser897Cys) c.2602A>T (p.Ser868Cys) n.3878A>T | |
17 | g.39727917G>A | CA399314189 | ERBB2 | c.3641G>A (p.Ser1214Asn) c.3551G>A (p.Ser1184Asn) c.2813G>A (p.Ser938Asn) c.3596G>A (p.Ser1199Asn) c.*3431G>A (n.*3431G>A) c.*220G>A (n.*220G>A) n.3965G>A c.3779G>A (p.Ser1260Asn) c.3734G>A (p.Ser1245Asn) c.3689G>A (p.Ser1230Asn) c.3758G>A (p.Ser1253Asn) c.3743G>A (p.Ser1248Asn) c.3722G>A (p.Ser1241Asn) c.3716G>A (p.Ser1239Asn) c.3671G>A (p.Ser1224Asn) c.3662G>A (p.Ser1221Asn) c.3638G>A (p.Ser1213Asn) c.3632G>A (p.Ser1211Asn) c.3605G>A (p.Ser1202Asn) c.3599G>A (p.Ser1200Asn) c.3593G>A (p.Ser1198Asn) c.3554G>A (p.Ser1185Asn) c.3542G>A (p.Ser1181Asn) c.3485G>A (p.Ser1162Asn) c.3461G>A (p.Ser1154Asn) c.3455G>A (p.Ser1152Asn) c.3437G>A (p.Ser1146Asn) c.3383G>A (p.Ser1128Asn) c.2690G>A (p.Ser897Asn) c.2603G>A (p.Ser868Asn) n.3879G>A | |
17 | g.39727917G>C | CA399314192 | ERBB2 | c.3641G>C (p.Ser1214Thr) c.3551G>C (p.Ser1184Thr) c.2813G>C (p.Ser938Thr) c.3596G>C (p.Ser1199Thr) c.*3431G>C (n.*3431G>C) c.*220G>C (n.*220G>C) n.3965G>C c.3779G>C (p.Ser1260Thr) c.3734G>C (p.Ser1245Thr) c.3689G>C (p.Ser1230Thr) c.3758G>C (p.Ser1253Thr) c.3743G>C (p.Ser1248Thr) c.3722G>C (p.Ser1241Thr) c.3716G>C (p.Ser1239Thr) c.3671G>C (p.Ser1224Thr) c.3662G>C (p.Ser1221Thr) c.3638G>C (p.Ser1213Thr) c.3632G>C (p.Ser1211Thr) c.3605G>C (p.Ser1202Thr) c.3599G>C (p.Ser1200Thr) c.3593G>C (p.Ser1198Thr) c.3554G>C (p.Ser1185Thr) c.3542G>C (p.Ser1181Thr) c.3485G>C (p.Ser1162Thr) c.3461G>C (p.Ser1154Thr) c.3455G>C (p.Ser1152Thr) c.3437G>C (p.Ser1146Thr) c.3383G>C (p.Ser1128Thr) c.2690G>C (p.Ser897Thr) c.2603G>C (p.Ser868Thr) n.3879G>C | |
17 | g.39727917G>T | CA399314195 | ERBB2 | c.3641G>T (p.Ser1214Ile) c.3551G>T (p.Ser1184Ile) c.2813G>T (p.Ser938Ile) c.3596G>T (p.Ser1199Ile) c.*3431G>T (n.*3431G>T) c.*220G>T (n.*220G>T) n.3965G>T c.3779G>T (p.Ser1260Ile) c.3734G>T (p.Ser1245Ile) c.3689G>T (p.Ser1230Ile) c.3758G>T (p.Ser1253Ile) c.3743G>T (p.Ser1248Ile) c.3722G>T (p.Ser1241Ile) c.3716G>T (p.Ser1239Ile) c.3671G>T (p.Ser1224Ile) c.3662G>T (p.Ser1221Ile) c.3638G>T (p.Ser1213Ile) c.3632G>T (p.Ser1211Ile) c.3605G>T (p.Ser1202Ile) c.3599G>T (p.Ser1200Ile) c.3593G>T (p.Ser1198Ile) c.3554G>T (p.Ser1185Ile) c.3542G>T (p.Ser1181Ile) c.3485G>T (p.Ser1162Ile) c.3461G>T (p.Ser1154Ile) c.3455G>T (p.Ser1152Ile) c.3437G>T (p.Ser1146Ile) c.3383G>T (p.Ser1128Ile) c.2690G>T (p.Ser897Ile) c.2603G>T (p.Ser868Ile) n.3879G>T | |
17 | g.39727918C>A | CA399314200 | ERBB2 | c.3642C>A (p.Ser1214Arg) c.3552C>A (p.Ser1184Arg) c.2814C>A (p.Ser938Arg) c.3597C>A (p.Ser1199Arg) c.*3432C>A (n.*3432C>A) c.*221C>A (n.*221C>A) n.3966C>A c.3780C>A (p.Ser1260Arg) c.3735C>A (p.Ser1245Arg) c.3690C>A (p.Ser1230Arg) c.3759C>A (p.Ser1253Arg) c.3744C>A (p.Ser1248Arg) c.3723C>A (p.Ser1241Arg) c.3717C>A (p.Ser1239Arg) c.3672C>A (p.Ser1224Arg) c.3663C>A (p.Ser1221Arg) c.3639C>A (p.Ser1213Arg) c.3633C>A (p.Ser1211Arg) c.3606C>A (p.Ser1202Arg) c.3600C>A (p.Ser1200Arg) c.3594C>A (p.Ser1198Arg) c.3555C>A (p.Ser1185Arg) c.3543C>A (p.Ser1181Arg) c.3486C>A (p.Ser1162Arg) c.3462C>A (p.Ser1154Arg) c.3456C>A (p.Ser1152Arg) c.3438C>A (p.Ser1146Arg) c.3384C>A (p.Ser1128Arg) c.2691C>A (p.Ser897Arg) c.2604C>A (p.Ser868Arg) n.3880C>A | dbSNP |
17 | g.39727918C>G | CA399314197 | ERBB2 | c.3642C>G (p.Ser1214Arg) c.3552C>G (p.Ser1184Arg) c.2814C>G (p.Ser938Arg) c.3597C>G (p.Ser1199Arg) c.*3432C>G (n.*3432C>G) c.*221C>G (n.*221C>G) n.3966C>G c.3780C>G (p.Ser1260Arg) c.3735C>G (p.Ser1245Arg) c.3690C>G (p.Ser1230Arg) c.3759C>G (p.Ser1253Arg) c.3744C>G (p.Ser1248Arg) c.3723C>G (p.Ser1241Arg) c.3717C>G (p.Ser1239Arg) c.3672C>G (p.Ser1224Arg) c.3663C>G (p.Ser1221Arg) c.3639C>G (p.Ser1213Arg) c.3633C>G (p.Ser1211Arg) c.3606C>G (p.Ser1202Arg) c.3600C>G (p.Ser1200Arg) c.3594C>G (p.Ser1198Arg) c.3555C>G (p.Ser1185Arg) c.3543C>G (p.Ser1181Arg) c.3486C>G (p.Ser1162Arg) c.3462C>G (p.Ser1154Arg) c.3456C>G (p.Ser1152Arg) c.3438C>G (p.Ser1146Arg) c.3384C>G (p.Ser1128Arg) c.2691C>G (p.Ser897Arg) c.2604C>G (p.Ser868Arg) n.3880C>G | dbSNP |
17 | g.39727918C>T | CA499890842 | ERBB2 | c.3642C>T (p.Ser1214=) c.3552C>T (p.Ser1184=) c.2814C>T (p.Ser938=) c.3597C>T (p.Ser1199=) c.*3432C>T (n.*3432C>T) c.*221C>T (n.*221C>T) n.3966C>T c.3780C>T (p.Ser1260=) c.3735C>T (p.Ser1245=) c.3690C>T (p.Ser1230=) c.3759C>T (p.Ser1253=) c.3744C>T (p.Ser1248=) c.3723C>T (p.Ser1241=) c.3717C>T (p.Ser1239=) c.3672C>T (p.Ser1224=) c.3663C>T (p.Ser1221=) c.3639C>T (p.Ser1213=) c.3633C>T (p.Ser1211=) c.3606C>T (p.Ser1202=) c.3600C>T (p.Ser1200=) c.3594C>T (p.Ser1198=) c.3555C>T (p.Ser1185=) c.3543C>T (p.Ser1181=) c.3486C>T (p.Ser1162=) c.3462C>T (p.Ser1154=) c.3456C>T (p.Ser1152=) c.3438C>T (p.Ser1146=) c.3384C>T (p.Ser1128=) c.2691C>T (p.Ser897=) c.2604C>T (p.Ser868=) n.3880C>T | dbSNP |
17 | g.39727920del | CA2637630980 | ERBB2 | c.3644del (p.Pro1215GlnfsTer?) c.3554del (p.Pro1185GlnfsTer?) c.2816del (p.Pro939GlnfsTer?) c.3599del (p.Pro1200GlnfsTer?) c.*3434del (n.*3434del) c.*223del (n.*223del) n.3968del c.3782del (p.Pro1261GlnfsTer?) c.3737del (p.Pro1246GlnfsTer?) c.3692del (p.Pro1231GlnfsTer?) c.3761del (p.Pro1254GlnfsTer?) c.3746del (p.Pro1249GlnfsTer?) c.3725del (p.Pro1242GlnfsTer?) c.3719del (p.Pro1240GlnfsTer?) c.3674del (p.Pro1225GlnfsTer?) c.3665del (p.Pro1222GlnfsTer?) c.3641del (p.Pro1214GlnfsTer?) c.3635del (p.Pro1212GlnfsTer?) c.3608del (p.Pro1203GlnfsTer?) c.3602del (p.Pro1201GlnfsTer?) c.3596del (p.Pro1199GlnfsTer?) c.3557del (p.Pro1186GlnfsTer?) c.3545del (p.Pro1182GlnfsTer?) c.3488del (p.Pro1163GlnfsTer?) c.3464del (p.Pro1155GlnfsTer?) c.3458del (p.Pro1153GlnfsTer?) c.3440del (p.Pro1147GlnfsTer?) c.3386del (p.Pro1129GlnfsTer?) c.2693del (p.Pro898GlnfsTer?) c.2606del (p.Pro869GlnfsTer?) n.3882del | gnomAD v4 |
17 | g.39727919C>A | CA399314205 | ERBB2 | c.3643C>A (p.Pro1215Thr) c.3553C>A (p.Pro1185Thr) c.2815C>A (p.Pro939Thr) c.3598C>A (p.Pro1200Thr) c.*3433C>A (n.*3433C>A) c.*222C>A (n.*222C>A) n.3967C>A c.3781C>A (p.Pro1261Thr) c.3736C>A (p.Pro1246Thr) c.3691C>A (p.Pro1231Thr) c.3760C>A (p.Pro1254Thr) c.3745C>A (p.Pro1249Thr) c.3724C>A (p.Pro1242Thr) c.3718C>A (p.Pro1240Thr) c.3673C>A (p.Pro1225Thr) c.3664C>A (p.Pro1222Thr) c.3640C>A (p.Pro1214Thr) c.3634C>A (p.Pro1212Thr) c.3607C>A (p.Pro1203Thr) c.3601C>A (p.Pro1201Thr) c.3595C>A (p.Pro1199Thr) c.3556C>A (p.Pro1186Thr) c.3544C>A (p.Pro1182Thr) c.3487C>A (p.Pro1163Thr) c.3463C>A (p.Pro1155Thr) c.3457C>A (p.Pro1153Thr) c.3439C>A (p.Pro1147Thr) c.3385C>A (p.Pro1129Thr) c.2692C>A (p.Pro898Thr) c.2605C>A (p.Pro869Thr) n.3881C>A | dbSNP |
17 | g.39727919C>G | CA399314208 | ERBB2 | c.3643C>G (p.Pro1215Ala) c.3553C>G (p.Pro1185Ala) c.2815C>G (p.Pro939Ala) c.3598C>G (p.Pro1200Ala) c.*3433C>G (n.*3433C>G) c.*222C>G (n.*222C>G) n.3967C>G c.3781C>G (p.Pro1261Ala) c.3736C>G (p.Pro1246Ala) c.3691C>G (p.Pro1231Ala) c.3760C>G (p.Pro1254Ala) c.3745C>G (p.Pro1249Ala) c.3724C>G (p.Pro1242Ala) c.3718C>G (p.Pro1240Ala) c.3673C>G (p.Pro1225Ala) c.3664C>G (p.Pro1222Ala) c.3640C>G (p.Pro1214Ala) c.3634C>G (p.Pro1212Ala) c.3607C>G (p.Pro1203Ala) c.3601C>G (p.Pro1201Ala) c.3595C>G (p.Pro1199Ala) c.3556C>G (p.Pro1186Ala) c.3544C>G (p.Pro1182Ala) c.3487C>G (p.Pro1163Ala) c.3463C>G (p.Pro1155Ala) c.3457C>G (p.Pro1153Ala) c.3439C>G (p.Pro1147Ala) c.3385C>G (p.Pro1129Ala) c.2692C>G (p.Pro898Ala) c.2605C>G (p.Pro869Ala) n.3881C>G | dbSNP |
17 | g.39727919C>T | CA399314211 | ERBB2 | c.3643C>T (p.Pro1215Ser) c.3553C>T (p.Pro1185Ser) c.2815C>T (p.Pro939Ser) c.3598C>T (p.Pro1200Ser) c.*3433C>T (n.*3433C>T) c.*222C>T (n.*222C>T) n.3967C>T c.3781C>T (p.Pro1261Ser) c.3736C>T (p.Pro1246Ser) c.3691C>T (p.Pro1231Ser) c.3760C>T (p.Pro1254Ser) c.3745C>T (p.Pro1249Ser) c.3724C>T (p.Pro1242Ser) c.3718C>T (p.Pro1240Ser) c.3673C>T (p.Pro1225Ser) c.3664C>T (p.Pro1222Ser) c.3640C>T (p.Pro1214Ser) c.3634C>T (p.Pro1212Ser) c.3607C>T (p.Pro1203Ser) c.3601C>T (p.Pro1201Ser) c.3595C>T (p.Pro1199Ser) c.3556C>T (p.Pro1186Ser) c.3544C>T (p.Pro1182Ser) c.3487C>T (p.Pro1163Ser) c.3463C>T (p.Pro1155Ser) c.3457C>T (p.Pro1153Ser) c.3439C>T (p.Pro1147Ser) c.3385C>T (p.Pro1129Ser) c.2692C>T (p.Pro898Ser) c.2605C>T (p.Pro869Ser) n.3881C>T | dbSNP gnomAD v4 |
17 | g.39727920C>A | CA399314215 | ERBB2 | c.3644C>A (p.Pro1215Gln) c.3554C>A (p.Pro1185Gln) c.2816C>A (p.Pro939Gln) c.3599C>A (p.Pro1200Gln) c.*3434C>A (n.*3434C>A) c.*223C>A (n.*223C>A) n.3968C>A c.3782C>A (p.Pro1261Gln) c.3737C>A (p.Pro1246Gln) c.3692C>A (p.Pro1231Gln) c.3761C>A (p.Pro1254Gln) c.3746C>A (p.Pro1249Gln) c.3725C>A (p.Pro1242Gln) c.3719C>A (p.Pro1240Gln) c.3674C>A (p.Pro1225Gln) c.3665C>A (p.Pro1222Gln) c.3641C>A (p.Pro1214Gln) c.3635C>A (p.Pro1212Gln) c.3608C>A (p.Pro1203Gln) c.3602C>A (p.Pro1201Gln) c.3596C>A (p.Pro1199Gln) c.3557C>A (p.Pro1186Gln) c.3545C>A (p.Pro1182Gln) c.3488C>A (p.Pro1163Gln) c.3464C>A (p.Pro1155Gln) c.3458C>A (p.Pro1153Gln) c.3440C>A (p.Pro1147Gln) c.3386C>A (p.Pro1129Gln) c.2693C>A (p.Pro898Gln) c.2606C>A (p.Pro869Gln) n.3882C>A | dbSNP |
17 | g.39727920C>G | CA399314218 | ERBB2 | c.3644C>G (p.Pro1215Arg) c.3554C>G (p.Pro1185Arg) c.2816C>G (p.Pro939Arg) c.3599C>G (p.Pro1200Arg) c.*3434C>G (n.*3434C>G) c.*223C>G (n.*223C>G) n.3968C>G c.3782C>G (p.Pro1261Arg) c.3737C>G (p.Pro1246Arg) c.3692C>G (p.Pro1231Arg) c.3761C>G (p.Pro1254Arg) c.3746C>G (p.Pro1249Arg) c.3725C>G (p.Pro1242Arg) c.3719C>G (p.Pro1240Arg) c.3674C>G (p.Pro1225Arg) c.3665C>G (p.Pro1222Arg) c.3641C>G (p.Pro1214Arg) c.3635C>G (p.Pro1212Arg) c.3608C>G (p.Pro1203Arg) c.3602C>G (p.Pro1201Arg) c.3596C>G (p.Pro1199Arg) c.3557C>G (p.Pro1186Arg) c.3545C>G (p.Pro1182Arg) c.3488C>G (p.Pro1163Arg) c.3464C>G (p.Pro1155Arg) c.3458C>G (p.Pro1153Arg) c.3440C>G (p.Pro1147Arg) c.3386C>G (p.Pro1129Arg) c.2693C>G (p.Pro898Arg) c.2606C>G (p.Pro869Arg) n.3882C>G | dbSNP |
17 | g.39727920C>T | CA399314222 | ERBB2 | c.3644C>T (p.Pro1215Leu) c.3554C>T (p.Pro1185Leu) c.2816C>T (p.Pro939Leu) c.3599C>T (p.Pro1200Leu) c.*3434C>T (n.*3434C>T) c.*223C>T (n.*223C>T) n.3968C>T c.3782C>T (p.Pro1261Leu) c.3737C>T (p.Pro1246Leu) c.3692C>T (p.Pro1231Leu) c.3761C>T (p.Pro1254Leu) c.3746C>T (p.Pro1249Leu) c.3725C>T (p.Pro1242Leu) c.3719C>T (p.Pro1240Leu) c.3674C>T (p.Pro1225Leu) c.3665C>T (p.Pro1222Leu) c.3641C>T (p.Pro1214Leu) c.3635C>T (p.Pro1212Leu) c.3608C>T (p.Pro1203Leu) c.3602C>T (p.Pro1201Leu) c.3596C>T (p.Pro1199Leu) c.3557C>T (p.Pro1186Leu) c.3545C>T (p.Pro1182Leu) c.3488C>T (p.Pro1163Leu) c.3464C>T (p.Pro1155Leu) c.3458C>T (p.Pro1153Leu) c.3440C>T (p.Pro1147Leu) c.3386C>T (p.Pro1129Leu) c.2693C>T (p.Pro898Leu) c.2606C>T (p.Pro869Leu) n.3882C>T | dbSNP |
17 | g.39727921A>C | CA499890847 | ERBB2 | c.3645A>C (p.Pro1215=) c.3555A>C (p.Pro1185=) c.2817A>C (p.Pro939=) c.3600A>C (p.Pro1200=) c.*3435A>C (n.*3435A>C) c.*224A>C (n.*224A>C) n.3969A>C c.3783A>C (p.Pro1261=) c.3738A>C (p.Pro1246=) c.3693A>C (p.Pro1231=) c.3762A>C (p.Pro1254=) c.3747A>C (p.Pro1249=) c.3726A>C (p.Pro1242=) c.3720A>C (p.Pro1240=) c.3675A>C (p.Pro1225=) c.3666A>C (p.Pro1222=) c.3642A>C (p.Pro1214=) c.3636A>C (p.Pro1212=) c.3609A>C (p.Pro1203=) c.3603A>C (p.Pro1201=) c.3597A>C (p.Pro1199=) c.3558A>C (p.Pro1186=) c.3546A>C (p.Pro1182=) c.3489A>C (p.Pro1163=) c.3465A>C (p.Pro1155=) c.3459A>C (p.Pro1153=) c.3441A>C (p.Pro1147=) c.3387A>C (p.Pro1129=) c.2694A>C (p.Pro898=) c.2607A>C (p.Pro869=) n.3883A>C | dbSNP |
17 | g.39727921A>G | CA499890848 | ERBB2 | c.3645A>G (p.Pro1215=) c.3555A>G (p.Pro1185=) c.2817A>G (p.Pro939=) c.3600A>G (p.Pro1200=) c.*3435A>G (n.*3435A>G) c.*224A>G (n.*224A>G) n.3969A>G c.3783A>G (p.Pro1261=) c.3738A>G (p.Pro1246=) c.3693A>G (p.Pro1231=) c.3762A>G (p.Pro1254=) c.3747A>G (p.Pro1249=) c.3726A>G (p.Pro1242=) c.3720A>G (p.Pro1240=) c.3675A>G (p.Pro1225=) c.3666A>G (p.Pro1222=) c.3642A>G (p.Pro1214=) c.3636A>G (p.Pro1212=) c.3609A>G (p.Pro1203=) c.3603A>G (p.Pro1201=) c.3597A>G (p.Pro1199=) c.3558A>G (p.Pro1186=) c.3546A>G (p.Pro1182=) c.3489A>G (p.Pro1163=) c.3465A>G (p.Pro1155=) c.3459A>G (p.Pro1153=) c.3441A>G (p.Pro1147=) c.3387A>G (p.Pro1129=) c.2694A>G (p.Pro898=) c.2607A>G (p.Pro869=) n.3883A>G | dbSNP |
17 | g.39727921A>T | CA499890849 | ERBB2 | c.3645A>T (p.Pro1215=) c.3555A>T (p.Pro1185=) c.2817A>T (p.Pro939=) c.3600A>T (p.Pro1200=) c.*3435A>T (n.*3435A>T) c.*224A>T (n.*224A>T) n.3969A>T c.3783A>T (p.Pro1261=) c.3738A>T (p.Pro1246=) c.3693A>T (p.Pro1231=) c.3762A>T (p.Pro1254=) c.3747A>T (p.Pro1249=) c.3726A>T (p.Pro1242=) c.3720A>T (p.Pro1240=) c.3675A>T (p.Pro1225=) c.3666A>T (p.Pro1222=) c.3642A>T (p.Pro1214=) c.3636A>T (p.Pro1212=) c.3609A>T (p.Pro1203=) c.3603A>T (p.Pro1201=) c.3597A>T (p.Pro1199=) c.3558A>T (p.Pro1186=) c.3546A>T (p.Pro1182=) c.3489A>T (p.Pro1163=) c.3465A>T (p.Pro1155=) c.3459A>T (p.Pro1153=) c.3441A>T (p.Pro1147=) c.3387A>T (p.Pro1129=) c.2694A>T (p.Pro898=) c.2607A>T (p.Pro869=) n.3883A>T | dbSNP |
17 | g.39727922G>A | CA399314225 | ERBB2 | c.3646G>A (p.Ala1216Thr) c.3556G>A (p.Ala1186Thr) c.2818G>A (p.Ala940Thr) c.3601G>A (p.Ala1201Thr) c.*3436G>A (n.*3436G>A) c.*225G>A (n.*225G>A) n.3970G>A c.3784G>A (p.Ala1262Thr) c.3739G>A (p.Ala1247Thr) c.3694G>A (p.Ala1232Thr) c.3763G>A (p.Ala1255Thr) c.3748G>A (p.Ala1250Thr) c.3727G>A (p.Ala1243Thr) c.3721G>A (p.Ala1241Thr) c.3676G>A (p.Ala1226Thr) c.3667G>A (p.Ala1223Thr) c.3643G>A (p.Ala1215Thr) c.3637G>A (p.Ala1213Thr) c.3610G>A (p.Ala1204Thr) c.3604G>A (p.Ala1202Thr) c.3598G>A (p.Ala1200Thr) c.3559G>A (p.Ala1187Thr) c.3547G>A (p.Ala1183Thr) c.3490G>A (p.Ala1164Thr) c.3466G>A (p.Ala1156Thr) c.3460G>A (p.Ala1154Thr) c.3442G>A (p.Ala1148Thr) c.3388G>A (p.Ala1130Thr) c.2695G>A (p.Ala899Thr) c.2608G>A (p.Ala870Thr) n.3884G>A | dbSNP |
17 | g.39727922G>C | CA399314229 | ERBB2 | c.3646G>C (p.Ala1216Pro) c.3556G>C (p.Ala1186Pro) c.2818G>C (p.Ala940Pro) c.3601G>C (p.Ala1201Pro) c.*3436G>C (n.*3436G>C) c.*225G>C (n.*225G>C) n.3970G>C c.3784G>C (p.Ala1262Pro) c.3739G>C (p.Ala1247Pro) c.3694G>C (p.Ala1232Pro) c.3763G>C (p.Ala1255Pro) c.3748G>C (p.Ala1250Pro) c.3727G>C (p.Ala1243Pro) c.3721G>C (p.Ala1241Pro) c.3676G>C (p.Ala1226Pro) c.3667G>C (p.Ala1223Pro) c.3643G>C (p.Ala1215Pro) c.3637G>C (p.Ala1213Pro) c.3610G>C (p.Ala1204Pro) c.3604G>C (p.Ala1202Pro) c.3598G>C (p.Ala1200Pro) c.3559G>C (p.Ala1187Pro) c.3547G>C (p.Ala1183Pro) c.3490G>C (p.Ala1164Pro) c.3466G>C (p.Ala1156Pro) c.3460G>C (p.Ala1154Pro) c.3442G>C (p.Ala1148Pro) c.3388G>C (p.Ala1130Pro) c.2695G>C (p.Ala899Pro) c.2608G>C (p.Ala870Pro) n.3884G>C | dbSNP |
17 | g.39727922G>T | CA399314227 | ERBB2 | c.3646G>T (p.Ala1216Ser) c.3556G>T (p.Ala1186Ser) c.2818G>T (p.Ala940Ser) c.3601G>T (p.Ala1201Ser) c.*3436G>T (n.*3436G>T) c.*225G>T (n.*225G>T) n.3970G>T c.3784G>T (p.Ala1262Ser) c.3739G>T (p.Ala1247Ser) c.3694G>T (p.Ala1232Ser) c.3763G>T (p.Ala1255Ser) c.3748G>T (p.Ala1250Ser) c.3727G>T (p.Ala1243Ser) c.3721G>T (p.Ala1241Ser) c.3676G>T (p.Ala1226Ser) c.3667G>T (p.Ala1223Ser) c.3643G>T (p.Ala1215Ser) c.3637G>T (p.Ala1213Ser) c.3610G>T (p.Ala1204Ser) c.3604G>T (p.Ala1202Ser) c.3598G>T (p.Ala1200Ser) c.3559G>T (p.Ala1187Ser) c.3547G>T (p.Ala1183Ser) c.3490G>T (p.Ala1164Ser) c.3466G>T (p.Ala1156Ser) c.3460G>T (p.Ala1154Ser) c.3442G>T (p.Ala1148Ser) c.3388G>T (p.Ala1130Ser) c.2695G>T (p.Ala899Ser) c.2608G>T (p.Ala870Ser) n.3884G>T | dbSNP |
17 | g.39727923C>A | CA158677 | ERBB2 | c.3647C>A (p.Ala1216Asp) c.3557C>A (p.Ala1186Asp) c.2819C>A (p.Ala940Asp) c.3602C>A (p.Ala1201Asp) c.*3437C>A (n.*3437C>A) c.*226C>A (n.*226C>A) n.3971C>A c.3785C>A (p.Ala1262Asp) c.3740C>A (p.Ala1247Asp) c.3695C>A (p.Ala1232Asp) c.3764C>A (p.Ala1255Asp) c.3749C>A (p.Ala1250Asp) c.3728C>A (p.Ala1243Asp) c.3722C>A (p.Ala1241Asp) c.3677C>A (p.Ala1226Asp) c.3668C>A (p.Ala1223Asp) c.3644C>A (p.Ala1215Asp) c.3638C>A (p.Ala1213Asp) c.3611C>A (p.Ala1204Asp) c.3605C>A (p.Ala1202Asp) c.3599C>A (p.Ala1200Asp) c.3560C>A (p.Ala1187Asp) c.3548C>A (p.Ala1183Asp) c.3491C>A (p.Ala1164Asp) c.3467C>A (p.Ala1156Asp) c.3461C>A (p.Ala1154Asp) c.3443C>A (p.Ala1148Asp) c.3389C>A (p.Ala1130Asp) c.2696C>A (p.Ala899Asp) c.2609C>A (p.Ala870Asp) n.3885C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727923C= | CA2259229317 | ERBB2 | c.3647C= (p.Ala1216=) c.3557C= (p.Ala1186=) c.2819C= (p.Ala940=) c.3602C= (p.Ala1201=) c.*3437C= (n.*3437C=) c.*226C= (n.*226C=) n.3971C= c.3785C= (p.Ala1262=) c.3740C= (p.Ala1247=) c.3695C= (p.Ala1232=) c.3764C= (p.Ala1255=) c.3749C= (p.Ala1250=) c.3728C= (p.Ala1243=) c.3722C= (p.Ala1241=) c.3677C= (p.Ala1226=) c.3668C= (p.Ala1223=) c.3644C= (p.Ala1215=) c.3638C= (p.Ala1213=) c.3611C= (p.Ala1204=) c.3605C= (p.Ala1202=) c.3599C= (p.Ala1200=) c.3560C= (p.Ala1187=) c.3548C= (p.Ala1183=) c.3491C= (p.Ala1164=) c.3467C= (p.Ala1156=) c.3461C= (p.Ala1154=) c.3443C= (p.Ala1148=) c.3389C= (p.Ala1130=) c.2696C= (p.Ala899=) c.2609C= (p.Ala870=) n.3885C= | |
17 | g.39727923C>G | CA399314241 | ERBB2 | c.3647C>G (p.Ala1216Gly) c.3557C>G (p.Ala1186Gly) c.2819C>G (p.Ala940Gly) c.3602C>G (p.Ala1201Gly) c.*3437C>G (n.*3437C>G) c.*226C>G (n.*226C>G) n.3971C>G c.3785C>G (p.Ala1262Gly) c.3740C>G (p.Ala1247Gly) c.3695C>G (p.Ala1232Gly) c.3764C>G (p.Ala1255Gly) c.3749C>G (p.Ala1250Gly) c.3728C>G (p.Ala1243Gly) c.3722C>G (p.Ala1241Gly) c.3677C>G (p.Ala1226Gly) c.3668C>G (p.Ala1223Gly) c.3644C>G (p.Ala1215Gly) c.3638C>G (p.Ala1213Gly) c.3611C>G (p.Ala1204Gly) c.3605C>G (p.Ala1202Gly) c.3599C>G (p.Ala1200Gly) c.3560C>G (p.Ala1187Gly) c.3548C>G (p.Ala1183Gly) c.3491C>G (p.Ala1164Gly) c.3467C>G (p.Ala1156Gly) c.3461C>G (p.Ala1154Gly) c.3443C>G (p.Ala1148Gly) c.3389C>G (p.Ala1130Gly) c.2696C>G (p.Ala899Gly) c.2609C>G (p.Ala870Gly) n.3885C>G | dbSNP |
17 | g.39727923C>T | CA399314243 | ERBB2 | c.3647C>T (p.Ala1216Val) c.3557C>T (p.Ala1186Val) c.2819C>T (p.Ala940Val) c.3602C>T (p.Ala1201Val) c.*3437C>T (n.*3437C>T) c.*226C>T (n.*226C>T) n.3971C>T c.3785C>T (p.Ala1262Val) c.3740C>T (p.Ala1247Val) c.3695C>T (p.Ala1232Val) c.3764C>T (p.Ala1255Val) c.3749C>T (p.Ala1250Val) c.3728C>T (p.Ala1243Val) c.3722C>T (p.Ala1241Val) c.3677C>T (p.Ala1226Val) c.3668C>T (p.Ala1223Val) c.3644C>T (p.Ala1215Val) c.3638C>T (p.Ala1213Val) c.3611C>T (p.Ala1204Val) c.3605C>T (p.Ala1202Val) c.3599C>T (p.Ala1200Val) c.3560C>T (p.Ala1187Val) c.3548C>T (p.Ala1183Val) c.3491C>T (p.Ala1164Val) c.3467C>T (p.Ala1156Val) c.3461C>T (p.Ala1154Val) c.3443C>T (p.Ala1148Val) c.3389C>T (p.Ala1130Val) c.2696C>T (p.Ala899Val) c.2609C>T (p.Ala870Val) n.3885C>T | dbSNP |
17 | g.39727924C>A | CA499890850 | ERBB2 | c.3648C>A (p.Ala1216=) c.3558C>A (p.Ala1186=) c.2820C>A (p.Ala940=) c.3603C>A (p.Ala1201=) c.*3438C>A (n.*3438C>A) c.*227C>A (n.*227C>A) n.3972C>A c.3786C>A (p.Ala1262=) c.3741C>A (p.Ala1247=) c.3696C>A (p.Ala1232=) c.3765C>A (p.Ala1255=) c.3750C>A (p.Ala1250=) c.3729C>A (p.Ala1243=) c.3723C>A (p.Ala1241=) c.3678C>A (p.Ala1226=) c.3669C>A (p.Ala1223=) c.3645C>A (p.Ala1215=) c.3639C>A (p.Ala1213=) c.3612C>A (p.Ala1204=) c.3606C>A (p.Ala1202=) c.3600C>A (p.Ala1200=) c.3561C>A (p.Ala1187=) c.3549C>A (p.Ala1183=) c.3492C>A (p.Ala1164=) c.3468C>A (p.Ala1156=) c.3462C>A (p.Ala1154=) c.3444C>A (p.Ala1148=) c.3390C>A (p.Ala1130=) c.2697C>A (p.Ala899=) c.2610C>A (p.Ala870=) n.3886C>A | |
17 | g.39727924C= | CA2259229318 | ERBB2 | c.3648C= (p.Ala1216=) c.3558C= (p.Ala1186=) c.2820C= (p.Ala940=) c.3603C= (p.Ala1201=) c.*3438C= (n.*3438C=) c.*227C= (n.*227C=) n.3972C= c.3786C= (p.Ala1262=) c.3741C= (p.Ala1247=) c.3696C= (p.Ala1232=) c.3765C= (p.Ala1255=) c.3750C= (p.Ala1250=) c.3729C= (p.Ala1243=) c.3723C= (p.Ala1241=) c.3678C= (p.Ala1226=) c.3669C= (p.Ala1223=) c.3645C= (p.Ala1215=) c.3639C= (p.Ala1213=) c.3612C= (p.Ala1204=) c.3606C= (p.Ala1202=) c.3600C= (p.Ala1200=) c.3561C= (p.Ala1187=) c.3549C= (p.Ala1183=) c.3492C= (p.Ala1164=) c.3468C= (p.Ala1156=) c.3462C= (p.Ala1154=) c.3444C= (p.Ala1148=) c.3390C= (p.Ala1130=) c.2697C= (p.Ala899=) c.2610C= (p.Ala870=) n.3886C= | |
17 | g.39727924C>G | CA499890851 | ERBB2 | c.3648C>G (p.Ala1216=) c.3558C>G (p.Ala1186=) c.2820C>G (p.Ala940=) c.3603C>G (p.Ala1201=) c.*3438C>G (n.*3438C>G) c.*227C>G (n.*227C>G) n.3972C>G c.3786C>G (p.Ala1262=) c.3741C>G (p.Ala1247=) c.3696C>G (p.Ala1232=) c.3765C>G (p.Ala1255=) c.3750C>G (p.Ala1250=) c.3729C>G (p.Ala1243=) c.3723C>G (p.Ala1241=) c.3678C>G (p.Ala1226=) c.3669C>G (p.Ala1223=) c.3645C>G (p.Ala1215=) c.3639C>G (p.Ala1213=) c.3612C>G (p.Ala1204=) c.3606C>G (p.Ala1202=) c.3600C>G (p.Ala1200=) c.3561C>G (p.Ala1187=) c.3549C>G (p.Ala1183=) c.3492C>G (p.Ala1164=) c.3468C>G (p.Ala1156=) c.3462C>G (p.Ala1154=) c.3444C>G (p.Ala1148=) c.3390C>G (p.Ala1130=) c.2697C>G (p.Ala899=) c.2610C>G (p.Ala870=) n.3886C>G | ClinVar dbSNP gnomAD v4 |
17 | g.39727924C>T | CA499890852 | ERBB2 | c.3648C>T (p.Ala1216=) c.3558C>T (p.Ala1186=) c.2820C>T (p.Ala940=) c.3603C>T (p.Ala1201=) c.*3438C>T (n.*3438C>T) c.*227C>T (n.*227C>T) n.3972C>T c.3786C>T (p.Ala1262=) c.3741C>T (p.Ala1247=) c.3696C>T (p.Ala1232=) c.3765C>T (p.Ala1255=) c.3750C>T (p.Ala1250=) c.3729C>T (p.Ala1243=) c.3723C>T (p.Ala1241=) c.3678C>T (p.Ala1226=) c.3669C>T (p.Ala1223=) c.3645C>T (p.Ala1215=) c.3639C>T (p.Ala1213=) c.3612C>T (p.Ala1204=) c.3606C>T (p.Ala1202=) c.3600C>T (p.Ala1200=) c.3561C>T (p.Ala1187=) c.3549C>T (p.Ala1183=) c.3492C>T (p.Ala1164=) c.3468C>T (p.Ala1156=) c.3462C>T (p.Ala1154=) c.3444C>T (p.Ala1148=) c.3390C>T (p.Ala1130=) c.2697C>T (p.Ala899=) c.2610C>T (p.Ala870=) n.3886C>T | dbSNP |
17 | g.39727925T>A | CA399314248 | ERBB2 | c.3649T>A (p.Phe1217Ile) c.3559T>A (p.Phe1187Ile) c.2821T>A (p.Phe941Ile) c.3604T>A (p.Phe1202Ile) c.*3439T>A (n.*3439T>A) c.*228T>A (n.*228T>A) n.3973T>A c.3787T>A (p.Phe1263Ile) c.3742T>A (p.Phe1248Ile) c.3697T>A (p.Phe1233Ile) c.3766T>A (p.Phe1256Ile) c.3751T>A (p.Phe1251Ile) c.3730T>A (p.Phe1244Ile) c.3724T>A (p.Phe1242Ile) c.3679T>A (p.Phe1227Ile) c.3670T>A (p.Phe1224Ile) c.3646T>A (p.Phe1216Ile) c.3640T>A (p.Phe1214Ile) c.3613T>A (p.Phe1205Ile) c.3607T>A (p.Phe1203Ile) c.3601T>A (p.Phe1201Ile) c.3562T>A (p.Phe1188Ile) c.3550T>A (p.Phe1184Ile) c.3493T>A (p.Phe1165Ile) c.3469T>A (p.Phe1157Ile) c.3463T>A (p.Phe1155Ile) c.3445T>A (p.Phe1149Ile) c.3391T>A (p.Phe1131Ile) c.2698T>A (p.Phe900Ile) c.2611T>A (p.Phe871Ile) n.3887T>A | dbSNP |
17 | g.39727925T>C | CA8534594 | ERBB2 | c.3649T>C (p.Phe1217Leu) c.3559T>C (p.Phe1187Leu) c.2821T>C (p.Phe941Leu) c.3604T>C (p.Phe1202Leu) c.*3439T>C (n.*3439T>C) c.*228T>C (n.*228T>C) n.3973T>C c.3787T>C (p.Phe1263Leu) c.3742T>C (p.Phe1248Leu) c.3697T>C (p.Phe1233Leu) c.3766T>C (p.Phe1256Leu) c.3751T>C (p.Phe1251Leu) c.3730T>C (p.Phe1244Leu) c.3724T>C (p.Phe1242Leu) c.3679T>C (p.Phe1227Leu) c.3670T>C (p.Phe1224Leu) c.3646T>C (p.Phe1216Leu) c.3640T>C (p.Phe1214Leu) c.3613T>C (p.Phe1205Leu) c.3607T>C (p.Phe1203Leu) c.3601T>C (p.Phe1201Leu) c.3562T>C (p.Phe1188Leu) c.3550T>C (p.Phe1184Leu) c.3493T>C (p.Phe1165Leu) c.3469T>C (p.Phe1157Leu) c.3463T>C (p.Phe1155Leu) c.3445T>C (p.Phe1149Leu) c.3391T>C (p.Phe1131Leu) c.2698T>C (p.Phe900Leu) c.2611T>C (p.Phe871Leu) n.3887T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727925T>G | CA399314253 | ERBB2 | c.3649T>G (p.Phe1217Val) c.3559T>G (p.Phe1187Val) c.2821T>G (p.Phe941Val) c.3604T>G (p.Phe1202Val) c.*3439T>G (n.*3439T>G) c.*228T>G (n.*228T>G) n.3973T>G c.3787T>G (p.Phe1263Val) c.3742T>G (p.Phe1248Val) c.3697T>G (p.Phe1233Val) c.3766T>G (p.Phe1256Val) c.3751T>G (p.Phe1251Val) c.3730T>G (p.Phe1244Val) c.3724T>G (p.Phe1242Val) c.3679T>G (p.Phe1227Val) c.3670T>G (p.Phe1224Val) c.3646T>G (p.Phe1216Val) c.3640T>G (p.Phe1214Val) c.3613T>G (p.Phe1205Val) c.3607T>G (p.Phe1203Val) c.3601T>G (p.Phe1201Val) c.3562T>G (p.Phe1188Val) c.3550T>G (p.Phe1184Val) c.3493T>G (p.Phe1165Val) c.3469T>G (p.Phe1157Val) c.3463T>G (p.Phe1155Val) c.3445T>G (p.Phe1149Val) c.3391T>G (p.Phe1131Val) c.2698T>G (p.Phe900Val) c.2611T>G (p.Phe871Val) n.3887T>G | |
17 | g.39727925T= | CA2259229319 | ERBB2 | c.3649T= (p.Phe1217=) c.3559T= (p.Phe1187=) c.2821T= (p.Phe941=) c.3604T= (p.Phe1202=) c.*3439T= (n.*3439T=) c.*228T= (n.*228T=) n.3973T= c.3787T= (p.Phe1263=) c.3742T= (p.Phe1248=) c.3697T= (p.Phe1233=) c.3766T= (p.Phe1256=) c.3751T= (p.Phe1251=) c.3730T= (p.Phe1244=) c.3724T= (p.Phe1242=) c.3679T= (p.Phe1227=) c.3670T= (p.Phe1224=) c.3646T= (p.Phe1216=) c.3640T= (p.Phe1214=) c.3613T= (p.Phe1205=) c.3607T= (p.Phe1203=) c.3601T= (p.Phe1201=) c.3562T= (p.Phe1188=) c.3550T= (p.Phe1184=) c.3493T= (p.Phe1165=) c.3469T= (p.Phe1157=) c.3463T= (p.Phe1155=) c.3445T= (p.Phe1149=) c.3391T= (p.Phe1131=) c.2698T= (p.Phe900=) c.2611T= (p.Phe871=) n.3887T= | |
17 | g.39727926T>A | CA399314257 | ERBB2 | c.3650T>A (p.Phe1217Tyr) c.3560T>A (p.Phe1187Tyr) c.2822T>A (p.Phe941Tyr) c.3605T>A (p.Phe1202Tyr) c.*3440T>A (n.*3440T>A) c.*229T>A (n.*229T>A) n.3974T>A c.3788T>A (p.Phe1263Tyr) c.3743T>A (p.Phe1248Tyr) c.3698T>A (p.Phe1233Tyr) c.3767T>A (p.Phe1256Tyr) c.3752T>A (p.Phe1251Tyr) c.3731T>A (p.Phe1244Tyr) c.3725T>A (p.Phe1242Tyr) c.3680T>A (p.Phe1227Tyr) c.3671T>A (p.Phe1224Tyr) c.3647T>A (p.Phe1216Tyr) c.3641T>A (p.Phe1214Tyr) c.3614T>A (p.Phe1205Tyr) c.3608T>A (p.Phe1203Tyr) c.3602T>A (p.Phe1201Tyr) c.3563T>A (p.Phe1188Tyr) c.3551T>A (p.Phe1184Tyr) c.3494T>A (p.Phe1165Tyr) c.3470T>A (p.Phe1157Tyr) c.3464T>A (p.Phe1155Tyr) c.3446T>A (p.Phe1149Tyr) c.3392T>A (p.Phe1131Tyr) c.2699T>A (p.Phe900Tyr) c.2612T>A (p.Phe871Tyr) n.3888T>A | dbSNP |
17 | g.39727926T>C | CA399314260 | ERBB2 | c.3650T>C (p.Phe1217Ser) c.3560T>C (p.Phe1187Ser) c.2822T>C (p.Phe941Ser) c.3605T>C (p.Phe1202Ser) c.*3440T>C (n.*3440T>C) c.*229T>C (n.*229T>C) n.3974T>C c.3788T>C (p.Phe1263Ser) c.3743T>C (p.Phe1248Ser) c.3698T>C (p.Phe1233Ser) c.3767T>C (p.Phe1256Ser) c.3752T>C (p.Phe1251Ser) c.3731T>C (p.Phe1244Ser) c.3725T>C (p.Phe1242Ser) c.3680T>C (p.Phe1227Ser) c.3671T>C (p.Phe1224Ser) c.3647T>C (p.Phe1216Ser) c.3641T>C (p.Phe1214Ser) c.3614T>C (p.Phe1205Ser) c.3608T>C (p.Phe1203Ser) c.3602T>C (p.Phe1201Ser) c.3563T>C (p.Phe1188Ser) c.3551T>C (p.Phe1184Ser) c.3494T>C (p.Phe1165Ser) c.3470T>C (p.Phe1157Ser) c.3464T>C (p.Phe1155Ser) c.3446T>C (p.Phe1149Ser) c.3392T>C (p.Phe1131Ser) c.2699T>C (p.Phe900Ser) c.2612T>C (p.Phe871Ser) n.3888T>C | dbSNP gnomAD v4 |
17 | g.39727926T>G | CA399314263 | ERBB2 | c.3650T>G (p.Phe1217Cys) c.3560T>G (p.Phe1187Cys) c.2822T>G (p.Phe941Cys) c.3605T>G (p.Phe1202Cys) c.*3440T>G (n.*3440T>G) c.*229T>G (n.*229T>G) n.3974T>G c.3788T>G (p.Phe1263Cys) c.3743T>G (p.Phe1248Cys) c.3698T>G (p.Phe1233Cys) c.3767T>G (p.Phe1256Cys) c.3752T>G (p.Phe1251Cys) c.3731T>G (p.Phe1244Cys) c.3725T>G (p.Phe1242Cys) c.3680T>G (p.Phe1227Cys) c.3671T>G (p.Phe1224Cys) c.3647T>G (p.Phe1216Cys) c.3641T>G (p.Phe1214Cys) c.3614T>G (p.Phe1205Cys) c.3608T>G (p.Phe1203Cys) c.3602T>G (p.Phe1201Cys) c.3563T>G (p.Phe1188Cys) c.3551T>G (p.Phe1184Cys) c.3494T>G (p.Phe1165Cys) c.3470T>G (p.Phe1157Cys) c.3464T>G (p.Phe1155Cys) c.3446T>G (p.Phe1149Cys) c.3392T>G (p.Phe1131Cys) c.2699T>G (p.Phe900Cys) c.2612T>G (p.Phe871Cys) n.3888T>G | |
17 | g.39727927C>A | CA399314266 | ERBB2 | c.3651C>A (p.Phe1217Leu) c.3561C>A (p.Phe1187Leu) c.2823C>A (p.Phe941Leu) c.3606C>A (p.Phe1202Leu) c.*3441C>A (n.*3441C>A) c.*230C>A (n.*230C>A) n.3975C>A c.3789C>A (p.Phe1263Leu) c.3744C>A (p.Phe1248Leu) c.3699C>A (p.Phe1233Leu) c.3768C>A (p.Phe1256Leu) c.3753C>A (p.Phe1251Leu) c.3732C>A (p.Phe1244Leu) c.3726C>A (p.Phe1242Leu) c.3681C>A (p.Phe1227Leu) c.3672C>A (p.Phe1224Leu) c.3648C>A (p.Phe1216Leu) c.3642C>A (p.Phe1214Leu) c.3615C>A (p.Phe1205Leu) c.3609C>A (p.Phe1203Leu) c.3603C>A (p.Phe1201Leu) c.3564C>A (p.Phe1188Leu) c.3552C>A (p.Phe1184Leu) c.3495C>A (p.Phe1165Leu) c.3471C>A (p.Phe1157Leu) c.3465C>A (p.Phe1155Leu) c.3447C>A (p.Phe1149Leu) c.3393C>A (p.Phe1131Leu) c.2700C>A (p.Phe900Leu) c.2613C>A (p.Phe871Leu) n.3889C>A | dbSNP |
17 | g.39727927C= | CA2259229320 | ERBB2 | c.3651C= (p.Phe1217=) c.3561C= (p.Phe1187=) c.2823C= (p.Phe941=) c.3606C= (p.Phe1202=) c.*3441C= (n.*3441C=) c.*230C= (n.*230C=) n.3975C= c.3789C= (p.Phe1263=) c.3744C= (p.Phe1248=) c.3699C= (p.Phe1233=) c.3768C= (p.Phe1256=) c.3753C= (p.Phe1251=) c.3732C= (p.Phe1244=) c.3726C= (p.Phe1242=) c.3681C= (p.Phe1227=) c.3672C= (p.Phe1224=) c.3648C= (p.Phe1216=) c.3642C= (p.Phe1214=) c.3615C= (p.Phe1205=) c.3609C= (p.Phe1203=) c.3603C= (p.Phe1201=) c.3564C= (p.Phe1188=) c.3552C= (p.Phe1184=) c.3495C= (p.Phe1165=) c.3471C= (p.Phe1157=) c.3465C= (p.Phe1155=) c.3447C= (p.Phe1149=) c.3393C= (p.Phe1131=) c.2700C= (p.Phe900=) c.2613C= (p.Phe871=) n.3889C= | |
17 | g.39727927C>G | CA399314270 | ERBB2 | c.3651C>G (p.Phe1217Leu) c.3561C>G (p.Phe1187Leu) c.2823C>G (p.Phe941Leu) c.3606C>G (p.Phe1202Leu) c.*3441C>G (n.*3441C>G) c.*230C>G (n.*230C>G) n.3975C>G c.3789C>G (p.Phe1263Leu) c.3744C>G (p.Phe1248Leu) c.3699C>G (p.Phe1233Leu) c.3768C>G (p.Phe1256Leu) c.3753C>G (p.Phe1251Leu) c.3732C>G (p.Phe1244Leu) c.3726C>G (p.Phe1242Leu) c.3681C>G (p.Phe1227Leu) c.3672C>G (p.Phe1224Leu) c.3648C>G (p.Phe1216Leu) c.3642C>G (p.Phe1214Leu) c.3615C>G (p.Phe1205Leu) c.3609C>G (p.Phe1203Leu) c.3603C>G (p.Phe1201Leu) c.3564C>G (p.Phe1188Leu) c.3552C>G (p.Phe1184Leu) c.3495C>G (p.Phe1165Leu) c.3471C>G (p.Phe1157Leu) c.3465C>G (p.Phe1155Leu) c.3447C>G (p.Phe1149Leu) c.3393C>G (p.Phe1131Leu) c.2700C>G (p.Phe900Leu) c.2613C>G (p.Phe871Leu) n.3889C>G | dbSNP |
17 | g.39727927C>T | CA8534595 | ERBB2 | c.3651C>T (p.Phe1217=) c.3561C>T (p.Phe1187=) c.2823C>T (p.Phe941=) c.3606C>T (p.Phe1202=) c.*3441C>T (n.*3441C>T) c.*230C>T (n.*230C>T) n.3975C>T c.3789C>T (p.Phe1263=) c.3744C>T (p.Phe1248=) c.3699C>T (p.Phe1233=) c.3768C>T (p.Phe1256=) c.3753C>T (p.Phe1251=) c.3732C>T (p.Phe1244=) c.3726C>T (p.Phe1242=) c.3681C>T (p.Phe1227=) c.3672C>T (p.Phe1224=) c.3648C>T (p.Phe1216=) c.3642C>T (p.Phe1214=) c.3615C>T (p.Phe1205=) c.3609C>T (p.Phe1203=) c.3603C>T (p.Phe1201=) c.3564C>T (p.Phe1188=) c.3552C>T (p.Phe1184=) c.3495C>T (p.Phe1165=) c.3471C>T (p.Phe1157=) c.3465C>T (p.Phe1155=) c.3447C>T (p.Phe1149=) c.3393C>T (p.Phe1131=) c.2700C>T (p.Phe900=) c.2613C>T (p.Phe871=) n.3889C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727928G>A | CA399314277 | ERBB2 | c.3652G>A (p.Asp1218Asn) c.3562G>A (p.Asp1188Asn) c.2824G>A (p.Asp942Asn) c.3607G>A (p.Asp1203Asn) c.*3442G>A (n.*3442G>A) c.*231G>A (n.*231G>A) n.3976G>A c.3790G>A (p.Asp1264Asn) c.3745G>A (p.Asp1249Asn) c.3700G>A (p.Asp1234Asn) c.3769G>A (p.Asp1257Asn) c.3754G>A (p.Asp1252Asn) c.3733G>A (p.Asp1245Asn) c.3727G>A (p.Asp1243Asn) c.3682G>A (p.Asp1228Asn) c.3673G>A (p.Asp1225Asn) c.3649G>A (p.Asp1217Asn) c.3643G>A (p.Asp1215Asn) c.3616G>A (p.Asp1206Asn) c.3610G>A (p.Asp1204Asn) c.3604G>A (p.Asp1202Asn) c.3565G>A (p.Asp1189Asn) c.3553G>A (p.Asp1185Asn) c.3496G>A (p.Asp1166Asn) c.3472G>A (p.Asp1158Asn) c.3466G>A (p.Asp1156Asn) c.3448G>A (p.Asp1150Asn) c.3394G>A (p.Asp1132Asn) c.2701G>A (p.Asp901Asn) c.2614G>A (p.Asp872Asn) n.3890G>A | dbSNP gnomAD v4 |
17 | g.39727928G>C | CA399314282 | ERBB2 | c.3652G>C (p.Asp1218His) c.3562G>C (p.Asp1188His) c.2824G>C (p.Asp942His) c.3607G>C (p.Asp1203His) c.*3442G>C (n.*3442G>C) c.*231G>C (n.*231G>C) n.3976G>C c.3790G>C (p.Asp1264His) c.3745G>C (p.Asp1249His) c.3700G>C (p.Asp1234His) c.3769G>C (p.Asp1257His) c.3754G>C (p.Asp1252His) c.3733G>C (p.Asp1245His) c.3727G>C (p.Asp1243His) c.3682G>C (p.Asp1228His) c.3673G>C (p.Asp1225His) c.3649G>C (p.Asp1217His) c.3643G>C (p.Asp1215His) c.3616G>C (p.Asp1206His) c.3610G>C (p.Asp1204His) c.3604G>C (p.Asp1202His) c.3565G>C (p.Asp1189His) c.3553G>C (p.Asp1185His) c.3496G>C (p.Asp1166His) c.3472G>C (p.Asp1158His) c.3466G>C (p.Asp1156His) c.3448G>C (p.Asp1150His) c.3394G>C (p.Asp1132His) c.2701G>C (p.Asp901His) c.2614G>C (p.Asp872His) n.3890G>C | dbSNP |
17 | g.39727928G= | CA2259229321 | ERBB2 | c.3652G= (p.Asp1218=) c.3562G= (p.Asp1188=) c.2824G= (p.Asp942=) c.3607G= (p.Asp1203=) c.*3442G= (n.*3442G=) c.*231G= (n.*231G=) n.3976G= c.3790G= (p.Asp1264=) c.3745G= (p.Asp1249=) c.3700G= (p.Asp1234=) c.3769G= (p.Asp1257=) c.3754G= (p.Asp1252=) c.3733G= (p.Asp1245=) c.3727G= (p.Asp1243=) c.3682G= (p.Asp1228=) c.3673G= (p.Asp1225=) c.3649G= (p.Asp1217=) c.3643G= (p.Asp1215=) c.3616G= (p.Asp1206=) c.3610G= (p.Asp1204=) c.3604G= (p.Asp1202=) c.3565G= (p.Asp1189=) c.3553G= (p.Asp1185=) c.3496G= (p.Asp1166=) c.3472G= (p.Asp1158=) c.3466G= (p.Asp1156=) c.3448G= (p.Asp1150=) c.3394G= (p.Asp1132=) c.2701G= (p.Asp901=) c.2614G= (p.Asp872=) n.3890G= | |
17 | g.39727928G>T | CA399314280 | ERBB2 | c.3652G>T (p.Asp1218Tyr) c.3562G>T (p.Asp1188Tyr) c.2824G>T (p.Asp942Tyr) c.3607G>T (p.Asp1203Tyr) c.*3442G>T (n.*3442G>T) c.*231G>T (n.*231G>T) n.3976G>T c.3790G>T (p.Asp1264Tyr) c.3745G>T (p.Asp1249Tyr) c.3700G>T (p.Asp1234Tyr) c.3769G>T (p.Asp1257Tyr) c.3754G>T (p.Asp1252Tyr) c.3733G>T (p.Asp1245Tyr) c.3727G>T (p.Asp1243Tyr) c.3682G>T (p.Asp1228Tyr) c.3673G>T (p.Asp1225Tyr) c.3649G>T (p.Asp1217Tyr) c.3643G>T (p.Asp1215Tyr) c.3616G>T (p.Asp1206Tyr) c.3610G>T (p.Asp1204Tyr) c.3604G>T (p.Asp1202Tyr) c.3565G>T (p.Asp1189Tyr) c.3553G>T (p.Asp1185Tyr) c.3496G>T (p.Asp1166Tyr) c.3472G>T (p.Asp1158Tyr) c.3466G>T (p.Asp1156Tyr) c.3448G>T (p.Asp1150Tyr) c.3394G>T (p.Asp1132Tyr) c.2701G>T (p.Asp901Tyr) c.2614G>T (p.Asp872Tyr) n.3890G>T | dbSNP |
17 | g.39727929A>C | CA399314285 | ERBB2 | c.3653A>C (p.Asp1218Ala) c.3563A>C (p.Asp1188Ala) c.2825A>C (p.Asp942Ala) c.3608A>C (p.Asp1203Ala) c.*3443A>C (n.*3443A>C) c.*232A>C (n.*232A>C) n.3977A>C c.3791A>C (p.Asp1264Ala) c.3746A>C (p.Asp1249Ala) c.3701A>C (p.Asp1234Ala) c.3770A>C (p.Asp1257Ala) c.3755A>C (p.Asp1252Ala) c.3734A>C (p.Asp1245Ala) c.3728A>C (p.Asp1243Ala) c.3683A>C (p.Asp1228Ala) c.3674A>C (p.Asp1225Ala) c.3650A>C (p.Asp1217Ala) c.3644A>C (p.Asp1215Ala) c.3617A>C (p.Asp1206Ala) c.3611A>C (p.Asp1204Ala) c.3605A>C (p.Asp1202Ala) c.3566A>C (p.Asp1189Ala) c.3554A>C (p.Asp1185Ala) c.3497A>C (p.Asp1166Ala) c.3473A>C (p.Asp1158Ala) c.3467A>C (p.Asp1156Ala) c.3449A>C (p.Asp1150Ala) c.3395A>C (p.Asp1132Ala) c.2702A>C (p.Asp901Ala) c.2615A>C (p.Asp872Ala) n.3891A>C | dbSNP |
17 | g.39727929A>G | CA399314289 | ERBB2 | c.3653A>G (p.Asp1218Gly) c.3563A>G (p.Asp1188Gly) c.2825A>G (p.Asp942Gly) c.3608A>G (p.Asp1203Gly) c.*3443A>G (n.*3443A>G) c.*232A>G (n.*232A>G) n.3977A>G c.3791A>G (p.Asp1264Gly) c.3746A>G (p.Asp1249Gly) c.3701A>G (p.Asp1234Gly) c.3770A>G (p.Asp1257Gly) c.3755A>G (p.Asp1252Gly) c.3734A>G (p.Asp1245Gly) c.3728A>G (p.Asp1243Gly) c.3683A>G (p.Asp1228Gly) c.3674A>G (p.Asp1225Gly) c.3650A>G (p.Asp1217Gly) c.3644A>G (p.Asp1215Gly) c.3617A>G (p.Asp1206Gly) c.3611A>G (p.Asp1204Gly) c.3605A>G (p.Asp1202Gly) c.3566A>G (p.Asp1189Gly) c.3554A>G (p.Asp1185Gly) c.3497A>G (p.Asp1166Gly) c.3473A>G (p.Asp1158Gly) c.3467A>G (p.Asp1156Gly) c.3449A>G (p.Asp1150Gly) c.3395A>G (p.Asp1132Gly) c.2702A>G (p.Asp901Gly) c.2615A>G (p.Asp872Gly) n.3891A>G | dbSNP |
17 | g.39727929A>T | CA399314292 | ERBB2 | c.3653A>T (p.Asp1218Val) c.3563A>T (p.Asp1188Val) c.2825A>T (p.Asp942Val) c.3608A>T (p.Asp1203Val) c.*3443A>T (n.*3443A>T) c.*232A>T (n.*232A>T) n.3977A>T c.3791A>T (p.Asp1264Val) c.3746A>T (p.Asp1249Val) c.3701A>T (p.Asp1234Val) c.3770A>T (p.Asp1257Val) c.3755A>T (p.Asp1252Val) c.3734A>T (p.Asp1245Val) c.3728A>T (p.Asp1243Val) c.3683A>T (p.Asp1228Val) c.3674A>T (p.Asp1225Val) c.3650A>T (p.Asp1217Val) c.3644A>T (p.Asp1215Val) c.3617A>T (p.Asp1206Val) c.3611A>T (p.Asp1204Val) c.3605A>T (p.Asp1202Val) c.3566A>T (p.Asp1189Val) c.3554A>T (p.Asp1185Val) c.3497A>T (p.Asp1166Val) c.3473A>T (p.Asp1158Val) c.3467A>T (p.Asp1156Val) c.3449A>T (p.Asp1150Val) c.3395A>T (p.Asp1132Val) c.2702A>T (p.Asp901Val) c.2615A>T (p.Asp872Val) n.3891A>T | dbSNP |
17 | g.39727930C>A | CA399314296 | ERBB2 | c.3654C>A (p.Asp1218Glu) c.3564C>A (p.Asp1188Glu) c.2826C>A (p.Asp942Glu) c.3609C>A (p.Asp1203Glu) c.*3444C>A (n.*3444C>A) c.*233C>A (n.*233C>A) n.3978C>A c.3792C>A (p.Asp1264Glu) c.3747C>A (p.Asp1249Glu) c.3702C>A (p.Asp1234Glu) c.3771C>A (p.Asp1257Glu) c.3756C>A (p.Asp1252Glu) c.3735C>A (p.Asp1245Glu) c.3729C>A (p.Asp1243Glu) c.3684C>A (p.Asp1228Glu) c.3675C>A (p.Asp1225Glu) c.3651C>A (p.Asp1217Glu) c.3645C>A (p.Asp1215Glu) c.3618C>A (p.Asp1206Glu) c.3612C>A (p.Asp1204Glu) c.3606C>A (p.Asp1202Glu) c.3567C>A (p.Asp1189Glu) c.3555C>A (p.Asp1185Glu) c.3498C>A (p.Asp1166Glu) c.3474C>A (p.Asp1158Glu) c.3468C>A (p.Asp1156Glu) c.3450C>A (p.Asp1150Glu) c.3396C>A (p.Asp1132Glu) c.2703C>A (p.Asp901Glu) c.2616C>A (p.Asp872Glu) n.3892C>A | |
17 | g.39727930C>G | CA399314298 | ERBB2 | c.3654C>G (p.Asp1218Glu) c.3564C>G (p.Asp1188Glu) c.2826C>G (p.Asp942Glu) c.3609C>G (p.Asp1203Glu) c.*3444C>G (n.*3444C>G) c.*233C>G (n.*233C>G) n.3978C>G c.3792C>G (p.Asp1264Glu) c.3747C>G (p.Asp1249Glu) c.3702C>G (p.Asp1234Glu) c.3771C>G (p.Asp1257Glu) c.3756C>G (p.Asp1252Glu) c.3735C>G (p.Asp1245Glu) c.3729C>G (p.Asp1243Glu) c.3684C>G (p.Asp1228Glu) c.3675C>G (p.Asp1225Glu) c.3651C>G (p.Asp1217Glu) c.3645C>G (p.Asp1215Glu) c.3618C>G (p.Asp1206Glu) c.3612C>G (p.Asp1204Glu) c.3606C>G (p.Asp1202Glu) c.3567C>G (p.Asp1189Glu) c.3555C>G (p.Asp1185Glu) c.3498C>G (p.Asp1166Glu) c.3474C>G (p.Asp1158Glu) c.3468C>G (p.Asp1156Glu) c.3450C>G (p.Asp1150Glu) c.3396C>G (p.Asp1132Glu) c.2703C>G (p.Asp901Glu) c.2616C>G (p.Asp872Glu) n.3892C>G | |
17 | g.39727930C>T | CA499890855 | ERBB2 | c.3654C>T (p.Asp1218=) c.3564C>T (p.Asp1188=) c.2826C>T (p.Asp942=) c.3609C>T (p.Asp1203=) c.*3444C>T (n.*3444C>T) c.*233C>T (n.*233C>T) n.3978C>T c.3792C>T (p.Asp1264=) c.3747C>T (p.Asp1249=) c.3702C>T (p.Asp1234=) c.3771C>T (p.Asp1257=) c.3756C>T (p.Asp1252=) c.3735C>T (p.Asp1245=) c.3729C>T (p.Asp1243=) c.3684C>T (p.Asp1228=) c.3675C>T (p.Asp1225=) c.3651C>T (p.Asp1217=) c.3645C>T (p.Asp1215=) c.3618C>T (p.Asp1206=) c.3612C>T (p.Asp1204=) c.3606C>T (p.Asp1202=) c.3567C>T (p.Asp1189=) c.3555C>T (p.Asp1185=) c.3498C>T (p.Asp1166=) c.3474C>T (p.Asp1158=) c.3468C>T (p.Asp1156=) c.3450C>T (p.Asp1150=) c.3396C>T (p.Asp1132=) c.2703C>T (p.Asp901=) c.2616C>T (p.Asp872=) n.3892C>T | gnomAD v4 |
17 | g.39727931A>C | CA399314300 | ERBB2 | c.3655A>C (p.Asn1219His) c.3565A>C (p.Asn1189His) c.2827A>C (p.Asn943His) c.3610A>C (p.Asn1204His) c.*3445A>C (n.*3445A>C) c.*234A>C (n.*234A>C) n.3979A>C c.3793A>C (p.Asn1265His) c.3748A>C (p.Asn1250His) c.3703A>C (p.Asn1235His) c.3772A>C (p.Asn1258His) c.3757A>C (p.Asn1253His) c.3736A>C (p.Asn1246His) c.3730A>C (p.Asn1244His) c.3685A>C (p.Asn1229His) c.3676A>C (p.Asn1226His) c.3652A>C (p.Asn1218His) c.3646A>C (p.Asn1216His) c.3619A>C (p.Asn1207His) c.3613A>C (p.Asn1205His) c.3607A>C (p.Asn1203His) c.3568A>C (p.Asn1190His) c.3556A>C (p.Asn1186His) c.3499A>C (p.Asn1167His) c.3475A>C (p.Asn1159His) c.3469A>C (p.Asn1157His) c.3451A>C (p.Asn1151His) c.3397A>C (p.Asn1133His) c.2704A>C (p.Asn902His) c.2617A>C (p.Asn873His) n.3893A>C | dbSNP |
17 | g.39727931A>G | CA399314303 | ERBB2 | c.3655A>G (p.Asn1219Asp) c.3565A>G (p.Asn1189Asp) c.2827A>G (p.Asn943Asp) c.3610A>G (p.Asn1204Asp) c.*3445A>G (n.*3445A>G) c.*234A>G (n.*234A>G) n.3979A>G c.3793A>G (p.Asn1265Asp) c.3748A>G (p.Asn1250Asp) c.3703A>G (p.Asn1235Asp) c.3772A>G (p.Asn1258Asp) c.3757A>G (p.Asn1253Asp) c.3736A>G (p.Asn1246Asp) c.3730A>G (p.Asn1244Asp) c.3685A>G (p.Asn1229Asp) c.3676A>G (p.Asn1226Asp) c.3652A>G (p.Asn1218Asp) c.3646A>G (p.Asn1216Asp) c.3619A>G (p.Asn1207Asp) c.3613A>G (p.Asn1205Asp) c.3607A>G (p.Asn1203Asp) c.3568A>G (p.Asn1190Asp) c.3556A>G (p.Asn1186Asp) c.3499A>G (p.Asn1167Asp) c.3475A>G (p.Asn1159Asp) c.3469A>G (p.Asn1157Asp) c.3451A>G (p.Asn1151Asp) c.3397A>G (p.Asn1133Asp) c.2704A>G (p.Asn902Asp) c.2617A>G (p.Asn873Asp) n.3893A>G | dbSNP gnomAD v4 |
17 | g.39727931A>T | CA399314306 | ERBB2 | c.3655A>T (p.Asn1219Tyr) c.3565A>T (p.Asn1189Tyr) c.2827A>T (p.Asn943Tyr) c.3610A>T (p.Asn1204Tyr) c.*3445A>T (n.*3445A>T) c.*234A>T (n.*234A>T) n.3979A>T c.3793A>T (p.Asn1265Tyr) c.3748A>T (p.Asn1250Tyr) c.3703A>T (p.Asn1235Tyr) c.3772A>T (p.Asn1258Tyr) c.3757A>T (p.Asn1253Tyr) c.3736A>T (p.Asn1246Tyr) c.3730A>T (p.Asn1244Tyr) c.3685A>T (p.Asn1229Tyr) c.3676A>T (p.Asn1226Tyr) c.3652A>T (p.Asn1218Tyr) c.3646A>T (p.Asn1216Tyr) c.3619A>T (p.Asn1207Tyr) c.3613A>T (p.Asn1205Tyr) c.3607A>T (p.Asn1203Tyr) c.3568A>T (p.Asn1190Tyr) c.3556A>T (p.Asn1186Tyr) c.3499A>T (p.Asn1167Tyr) c.3475A>T (p.Asn1159Tyr) c.3469A>T (p.Asn1157Tyr) c.3451A>T (p.Asn1151Tyr) c.3397A>T (p.Asn1133Tyr) c.2704A>T (p.Asn902Tyr) c.2617A>T (p.Asn873Tyr) n.3893A>T | |
17 | g.39727932del | CA2637636762 | ERBB2 | c.3656del (p.Asn1219ThrfsTer?) c.3566del (p.Asn1189ThrfsTer?) c.2828del (p.Asn943ThrfsTer?) c.3611del (p.Asn1204ThrfsTer?) c.*3446del (n.*3446del) c.*235del (n.*235del) n.3980del c.3794del (p.Asn1265ThrfsTer?) c.3749del (p.Asn1250ThrfsTer?) c.3704del (p.Asn1235ThrfsTer?) c.3773del (p.Asn1258ThrfsTer?) c.3758del (p.Asn1253ThrfsTer?) c.3737del (p.Asn1246ThrfsTer?) c.3731del (p.Asn1244ThrfsTer?) c.3686del (p.Asn1229ThrfsTer?) c.3677del (p.Asn1226ThrfsTer?) c.3653del (p.Asn1218ThrfsTer?) c.3647del (p.Asn1216ThrfsTer?) c.3620del (p.Asn1207ThrfsTer?) c.3614del (p.Asn1205ThrfsTer?) c.3608del (p.Asn1203ThrfsTer?) c.3569del (p.Asn1190ThrfsTer?) c.3557del (p.Asn1186ThrfsTer?) c.3500del (p.Asn1167ThrfsTer?) c.3476del (p.Asn1159ThrfsTer?) c.3470del (p.Asn1157ThrfsTer?) c.3452del (p.Asn1151ThrfsTer?) c.3398del (p.Asn1133ThrfsTer?) c.2705del (p.Asn902ThrfsTer?) c.2618del (p.Asn873ThrfsTer?) n.3894del | gnomAD v4 |
17 | g.39727932A= | CA2259229322 | ERBB2 | c.3656A= (p.Asn1219=) c.3566A= (p.Asn1189=) c.2828A= (p.Asn943=) c.3611A= (p.Asn1204=) c.*3446A= (n.*3446A=) c.*235A= (n.*235A=) n.3980A= c.3794A= (p.Asn1265=) c.3749A= (p.Asn1250=) c.3704A= (p.Asn1235=) c.3773A= (p.Asn1258=) c.3758A= (p.Asn1253=) c.3737A= (p.Asn1246=) c.3731A= (p.Asn1244=) c.3686A= (p.Asn1229=) c.3677A= (p.Asn1226=) c.3653A= (p.Asn1218=) c.3647A= (p.Asn1216=) c.3620A= (p.Asn1207=) c.3614A= (p.Asn1205=) c.3608A= (p.Asn1203=) c.3569A= (p.Asn1190=) c.3557A= (p.Asn1186=) c.3500A= (p.Asn1167=) c.3476A= (p.Asn1159=) c.3470A= (p.Asn1157=) c.3452A= (p.Asn1151=) c.3398A= (p.Asn1133=) c.2705A= (p.Asn902=) c.2618A= (p.Asn873=) n.3894A= | |
17 | g.39727932A>C | CA399314308 | ERBB2 | c.3656A>C (p.Asn1219Thr) c.3566A>C (p.Asn1189Thr) c.2828A>C (p.Asn943Thr) c.3611A>C (p.Asn1204Thr) c.*3446A>C (n.*3446A>C) c.*235A>C (n.*235A>C) n.3980A>C c.3794A>C (p.Asn1265Thr) c.3749A>C (p.Asn1250Thr) c.3704A>C (p.Asn1235Thr) c.3773A>C (p.Asn1258Thr) c.3758A>C (p.Asn1253Thr) c.3737A>C (p.Asn1246Thr) c.3731A>C (p.Asn1244Thr) c.3686A>C (p.Asn1229Thr) c.3677A>C (p.Asn1226Thr) c.3653A>C (p.Asn1218Thr) c.3647A>C (p.Asn1216Thr) c.3620A>C (p.Asn1207Thr) c.3614A>C (p.Asn1205Thr) c.3608A>C (p.Asn1203Thr) c.3569A>C (p.Asn1190Thr) c.3557A>C (p.Asn1186Thr) c.3500A>C (p.Asn1167Thr) c.3476A>C (p.Asn1159Thr) c.3470A>C (p.Asn1157Thr) c.3452A>C (p.Asn1151Thr) c.3398A>C (p.Asn1133Thr) c.2705A>C (p.Asn902Thr) c.2618A>C (p.Asn873Thr) n.3894A>C | dbSNP |
17 | g.39727932A>G | CA290444051 | ERBB2 | c.3656A>G (p.Asn1219Ser) c.3566A>G (p.Asn1189Ser) c.2828A>G (p.Asn943Ser) c.3611A>G (p.Asn1204Ser) c.*3446A>G (n.*3446A>G) c.*235A>G (n.*235A>G) n.3980A>G c.3794A>G (p.Asn1265Ser) c.3749A>G (p.Asn1250Ser) c.3704A>G (p.Asn1235Ser) c.3773A>G (p.Asn1258Ser) c.3758A>G (p.Asn1253Ser) c.3737A>G (p.Asn1246Ser) c.3731A>G (p.Asn1244Ser) c.3686A>G (p.Asn1229Ser) c.3677A>G (p.Asn1226Ser) c.3653A>G (p.Asn1218Ser) c.3647A>G (p.Asn1216Ser) c.3620A>G (p.Asn1207Ser) c.3614A>G (p.Asn1205Ser) c.3608A>G (p.Asn1203Ser) c.3569A>G (p.Asn1190Ser) c.3557A>G (p.Asn1186Ser) c.3500A>G (p.Asn1167Ser) c.3476A>G (p.Asn1159Ser) c.3470A>G (p.Asn1157Ser) c.3452A>G (p.Asn1151Ser) c.3398A>G (p.Asn1133Ser) c.2705A>G (p.Asn902Ser) c.2618A>G (p.Asn873Ser) n.3894A>G | dbSNP |
17 | g.39727932A>T | CA399314311 | ERBB2 | c.3656A>T (p.Asn1219Ile) c.3566A>T (p.Asn1189Ile) c.2828A>T (p.Asn943Ile) c.3611A>T (p.Asn1204Ile) c.*3446A>T (n.*3446A>T) c.*235A>T (n.*235A>T) n.3980A>T c.3794A>T (p.Asn1265Ile) c.3749A>T (p.Asn1250Ile) c.3704A>T (p.Asn1235Ile) c.3773A>T (p.Asn1258Ile) c.3758A>T (p.Asn1253Ile) c.3737A>T (p.Asn1246Ile) c.3731A>T (p.Asn1244Ile) c.3686A>T (p.Asn1229Ile) c.3677A>T (p.Asn1226Ile) c.3653A>T (p.Asn1218Ile) c.3647A>T (p.Asn1216Ile) c.3620A>T (p.Asn1207Ile) c.3614A>T (p.Asn1205Ile) c.3608A>T (p.Asn1203Ile) c.3569A>T (p.Asn1190Ile) c.3557A>T (p.Asn1186Ile) c.3500A>T (p.Asn1167Ile) c.3476A>T (p.Asn1159Ile) c.3470A>T (p.Asn1157Ile) c.3452A>T (p.Asn1151Ile) c.3398A>T (p.Asn1133Ile) c.2705A>T (p.Asn902Ile) c.2618A>T (p.Asn873Ile) n.3894A>T | dbSNP |
17 | g.39727933C>A | CA399314316 | ERBB2 | c.3657C>A (p.Asn1219Lys) c.3567C>A (p.Asn1189Lys) c.2829C>A (p.Asn943Lys) c.3612C>A (p.Asn1204Lys) c.*3447C>A (n.*3447C>A) c.*236C>A (n.*236C>A) n.3981C>A c.3795C>A (p.Asn1265Lys) c.3750C>A (p.Asn1250Lys) c.3705C>A (p.Asn1235Lys) c.3774C>A (p.Asn1258Lys) c.3759C>A (p.Asn1253Lys) c.3738C>A (p.Asn1246Lys) c.3732C>A (p.Asn1244Lys) c.3687C>A (p.Asn1229Lys) c.3678C>A (p.Asn1226Lys) c.3654C>A (p.Asn1218Lys) c.3648C>A (p.Asn1216Lys) c.3621C>A (p.Asn1207Lys) c.3615C>A (p.Asn1205Lys) c.3609C>A (p.Asn1203Lys) c.3570C>A (p.Asn1190Lys) c.3558C>A (p.Asn1186Lys) c.3501C>A (p.Asn1167Lys) c.3477C>A (p.Asn1159Lys) c.3471C>A (p.Asn1157Lys) c.3453C>A (p.Asn1151Lys) c.3399C>A (p.Asn1133Lys) c.2706C>A (p.Asn902Lys) c.2619C>A (p.Asn873Lys) n.3895C>A | |
17 | g.39727933C>G | CA399314318 | ERBB2 | c.3657C>G (p.Asn1219Lys) c.3567C>G (p.Asn1189Lys) c.2829C>G (p.Asn943Lys) c.3612C>G (p.Asn1204Lys) c.*3447C>G (n.*3447C>G) c.*236C>G (n.*236C>G) n.3981C>G c.3795C>G (p.Asn1265Lys) c.3750C>G (p.Asn1250Lys) c.3705C>G (p.Asn1235Lys) c.3774C>G (p.Asn1258Lys) c.3759C>G (p.Asn1253Lys) c.3738C>G (p.Asn1246Lys) c.3732C>G (p.Asn1244Lys) c.3687C>G (p.Asn1229Lys) c.3678C>G (p.Asn1226Lys) c.3654C>G (p.Asn1218Lys) c.3648C>G (p.Asn1216Lys) c.3621C>G (p.Asn1207Lys) c.3615C>G (p.Asn1205Lys) c.3609C>G (p.Asn1203Lys) c.3570C>G (p.Asn1190Lys) c.3558C>G (p.Asn1186Lys) c.3501C>G (p.Asn1167Lys) c.3477C>G (p.Asn1159Lys) c.3471C>G (p.Asn1157Lys) c.3453C>G (p.Asn1151Lys) c.3399C>G (p.Asn1133Lys) c.2706C>G (p.Asn902Lys) c.2619C>G (p.Asn873Lys) n.3895C>G | |
17 | g.39727933C>T | CA499890856 | ERBB2 | c.3657C>T (p.Asn1219=) c.3567C>T (p.Asn1189=) c.2829C>T (p.Asn943=) c.3612C>T (p.Asn1204=) c.*3447C>T (n.*3447C>T) c.*236C>T (n.*236C>T) n.3981C>T c.3795C>T (p.Asn1265=) c.3750C>T (p.Asn1250=) c.3705C>T (p.Asn1235=) c.3774C>T (p.Asn1258=) c.3759C>T (p.Asn1253=) c.3738C>T (p.Asn1246=) c.3732C>T (p.Asn1244=) c.3687C>T (p.Asn1229=) c.3678C>T (p.Asn1226=) c.3654C>T (p.Asn1218=) c.3648C>T (p.Asn1216=) c.3621C>T (p.Asn1207=) c.3615C>T (p.Asn1205=) c.3609C>T (p.Asn1203=) c.3570C>T (p.Asn1190=) c.3558C>T (p.Asn1186=) c.3501C>T (p.Asn1167=) c.3477C>T (p.Asn1159=) c.3471C>T (p.Asn1157=) c.3453C>T (p.Asn1151=) c.3399C>T (p.Asn1133=) c.2706C>T (p.Asn902=) c.2619C>T (p.Asn873=) n.3895C>T | |
17 | g.39727934C>A | CA399314323 | ERBB2 | c.3658C>A (p.Leu1220Ile) c.3568C>A (p.Leu1190Ile) c.2830C>A (p.Leu944Ile) c.3613C>A (p.Leu1205Ile) c.*3448C>A (n.*3448C>A) c.*237C>A (n.*237C>A) n.3982C>A c.3796C>A (p.Leu1266Ile) c.3751C>A (p.Leu1251Ile) c.3706C>A (p.Leu1236Ile) c.3775C>A (p.Leu1259Ile) c.3760C>A (p.Leu1254Ile) c.3739C>A (p.Leu1247Ile) c.3733C>A (p.Leu1245Ile) c.3688C>A (p.Leu1230Ile) c.3679C>A (p.Leu1227Ile) c.3655C>A (p.Leu1219Ile) c.3649C>A (p.Leu1217Ile) c.3622C>A (p.Leu1208Ile) c.3616C>A (p.Leu1206Ile) c.3610C>A (p.Leu1204Ile) c.3571C>A (p.Leu1191Ile) c.3559C>A (p.Leu1187Ile) c.3502C>A (p.Leu1168Ile) c.3478C>A (p.Leu1160Ile) c.3472C>A (p.Leu1158Ile) c.3454C>A (p.Leu1152Ile) c.3400C>A (p.Leu1134Ile) c.2707C>A (p.Leu903Ile) c.2620C>A (p.Leu874Ile) n.3896C>A | dbSNP |
17 | g.39727934C= | CA2259229323 | ERBB2 | c.3658C= (p.Leu1220=) c.3568C= (p.Leu1190=) c.2830C= (p.Leu944=) c.3613C= (p.Leu1205=) c.*3448C= (n.*3448C=) c.*237C= (n.*237C=) n.3982C= c.3796C= (p.Leu1266=) c.3751C= (p.Leu1251=) c.3706C= (p.Leu1236=) c.3775C= (p.Leu1259=) c.3760C= (p.Leu1254=) c.3739C= (p.Leu1247=) c.3733C= (p.Leu1245=) c.3688C= (p.Leu1230=) c.3679C= (p.Leu1227=) c.3655C= (p.Leu1219=) c.3649C= (p.Leu1217=) c.3622C= (p.Leu1208=) c.3616C= (p.Leu1206=) c.3610C= (p.Leu1204=) c.3571C= (p.Leu1191=) c.3559C= (p.Leu1187=) c.3502C= (p.Leu1168=) c.3478C= (p.Leu1160=) c.3472C= (p.Leu1158=) c.3454C= (p.Leu1152=) c.3400C= (p.Leu1134=) c.2707C= (p.Leu903=) c.2620C= (p.Leu874=) n.3896C= | |
17 | g.39727934C>G | CA399314331 | ERBB2 | c.3658C>G (p.Leu1220Val) c.3568C>G (p.Leu1190Val) c.2830C>G (p.Leu944Val) c.3613C>G (p.Leu1205Val) c.*3448C>G (n.*3448C>G) c.*237C>G (n.*237C>G) n.3982C>G c.3796C>G (p.Leu1266Val) c.3751C>G (p.Leu1251Val) c.3706C>G (p.Leu1236Val) c.3775C>G (p.Leu1259Val) c.3760C>G (p.Leu1254Val) c.3739C>G (p.Leu1247Val) c.3733C>G (p.Leu1245Val) c.3688C>G (p.Leu1230Val) c.3679C>G (p.Leu1227Val) c.3655C>G (p.Leu1219Val) c.3649C>G (p.Leu1217Val) c.3622C>G (p.Leu1208Val) c.3616C>G (p.Leu1206Val) c.3610C>G (p.Leu1204Val) c.3571C>G (p.Leu1191Val) c.3559C>G (p.Leu1187Val) c.3502C>G (p.Leu1168Val) c.3478C>G (p.Leu1160Val) c.3472C>G (p.Leu1158Val) c.3454C>G (p.Leu1152Val) c.3400C>G (p.Leu1134Val) c.2707C>G (p.Leu903Val) c.2620C>G (p.Leu874Val) n.3896C>G | dbSNP gnomAD v4 |
17 | g.39727934C>T | CA399314328 | ERBB2 | c.3658C>T (p.Leu1220Phe) c.3568C>T (p.Leu1190Phe) c.2830C>T (p.Leu944Phe) c.3613C>T (p.Leu1205Phe) c.*3448C>T (n.*3448C>T) c.*237C>T (n.*237C>T) n.3982C>T c.3796C>T (p.Leu1266Phe) c.3751C>T (p.Leu1251Phe) c.3706C>T (p.Leu1236Phe) c.3775C>T (p.Leu1259Phe) c.3760C>T (p.Leu1254Phe) c.3739C>T (p.Leu1247Phe) c.3733C>T (p.Leu1245Phe) c.3688C>T (p.Leu1230Phe) c.3679C>T (p.Leu1227Phe) c.3655C>T (p.Leu1219Phe) c.3649C>T (p.Leu1217Phe) c.3622C>T (p.Leu1208Phe) c.3616C>T (p.Leu1206Phe) c.3610C>T (p.Leu1204Phe) c.3571C>T (p.Leu1191Phe) c.3559C>T (p.Leu1187Phe) c.3502C>T (p.Leu1168Phe) c.3478C>T (p.Leu1160Phe) c.3472C>T (p.Leu1158Phe) c.3454C>T (p.Leu1152Phe) c.3400C>T (p.Leu1134Phe) c.2707C>T (p.Leu903Phe) c.2620C>T (p.Leu874Phe) n.3896C>T | dbSNP |
17 | g.39727935T>A | CA399314334 | ERBB2 | c.3659T>A (p.Leu1220His) c.3569T>A (p.Leu1190His) c.2831T>A (p.Leu944His) c.3614T>A (p.Leu1205His) c.*3449T>A (n.*3449T>A) c.*238T>A (n.*238T>A) n.3983T>A c.3797T>A (p.Leu1266His) c.3752T>A (p.Leu1251His) c.3707T>A (p.Leu1236His) c.3776T>A (p.Leu1259His) c.3761T>A (p.Leu1254His) c.3740T>A (p.Leu1247His) c.3734T>A (p.Leu1245His) c.3689T>A (p.Leu1230His) c.3680T>A (p.Leu1227His) c.3656T>A (p.Leu1219His) c.3650T>A (p.Leu1217His) c.3623T>A (p.Leu1208His) c.3617T>A (p.Leu1206His) c.3611T>A (p.Leu1204His) c.3572T>A (p.Leu1191His) c.3560T>A (p.Leu1187His) c.3503T>A (p.Leu1168His) c.3479T>A (p.Leu1160His) c.3473T>A (p.Leu1158His) c.3455T>A (p.Leu1152His) c.3401T>A (p.Leu1134His) c.2708T>A (p.Leu903His) c.2621T>A (p.Leu874His) n.3897T>A | dbSNP |
17 | g.39727935T>C | CA399314336 | ERBB2 | c.3659T>C (p.Leu1220Pro) c.3569T>C (p.Leu1190Pro) c.2831T>C (p.Leu944Pro) c.3614T>C (p.Leu1205Pro) c.*3449T>C (n.*3449T>C) c.*238T>C (n.*238T>C) n.3983T>C c.3797T>C (p.Leu1266Pro) c.3752T>C (p.Leu1251Pro) c.3707T>C (p.Leu1236Pro) c.3776T>C (p.Leu1259Pro) c.3761T>C (p.Leu1254Pro) c.3740T>C (p.Leu1247Pro) c.3734T>C (p.Leu1245Pro) c.3689T>C (p.Leu1230Pro) c.3680T>C (p.Leu1227Pro) c.3656T>C (p.Leu1219Pro) c.3650T>C (p.Leu1217Pro) c.3623T>C (p.Leu1208Pro) c.3617T>C (p.Leu1206Pro) c.3611T>C (p.Leu1204Pro) c.3572T>C (p.Leu1191Pro) c.3560T>C (p.Leu1187Pro) c.3503T>C (p.Leu1168Pro) c.3479T>C (p.Leu1160Pro) c.3473T>C (p.Leu1158Pro) c.3455T>C (p.Leu1152Pro) c.3401T>C (p.Leu1134Pro) c.2708T>C (p.Leu903Pro) c.2621T>C (p.Leu874Pro) n.3897T>C | dbSNP gnomAD v4 |
17 | g.39727935T>G | CA399314339 | ERBB2 | c.3659T>G (p.Leu1220Arg) c.3569T>G (p.Leu1190Arg) c.2831T>G (p.Leu944Arg) c.3614T>G (p.Leu1205Arg) c.*3449T>G (n.*3449T>G) c.*238T>G (n.*238T>G) n.3983T>G c.3797T>G (p.Leu1266Arg) c.3752T>G (p.Leu1251Arg) c.3707T>G (p.Leu1236Arg) c.3776T>G (p.Leu1259Arg) c.3761T>G (p.Leu1254Arg) c.3740T>G (p.Leu1247Arg) c.3734T>G (p.Leu1245Arg) c.3689T>G (p.Leu1230Arg) c.3680T>G (p.Leu1227Arg) c.3656T>G (p.Leu1219Arg) c.3650T>G (p.Leu1217Arg) c.3623T>G (p.Leu1208Arg) c.3617T>G (p.Leu1206Arg) c.3611T>G (p.Leu1204Arg) c.3572T>G (p.Leu1191Arg) c.3560T>G (p.Leu1187Arg) c.3503T>G (p.Leu1168Arg) c.3479T>G (p.Leu1160Arg) c.3473T>G (p.Leu1158Arg) c.3455T>G (p.Leu1152Arg) c.3401T>G (p.Leu1134Arg) c.2708T>G (p.Leu903Arg) c.2621T>G (p.Leu874Arg) n.3897T>G | |
17 | g.39727936C>A | CA499890858 | ERBB2 | c.3660C>A (p.Leu1220=) c.3570C>A (p.Leu1190=) c.2832C>A (p.Leu944=) c.3615C>A (p.Leu1205=) c.*3450C>A (n.*3450C>A) c.*239C>A (n.*239C>A) n.3984C>A c.3798C>A (p.Leu1266=) c.3753C>A (p.Leu1251=) c.3708C>A (p.Leu1236=) c.3777C>A (p.Leu1259=) c.3762C>A (p.Leu1254=) c.3741C>A (p.Leu1247=) c.3735C>A (p.Leu1245=) c.3690C>A (p.Leu1230=) c.3681C>A (p.Leu1227=) c.3657C>A (p.Leu1219=) c.3651C>A (p.Leu1217=) c.3624C>A (p.Leu1208=) c.3618C>A (p.Leu1206=) c.3612C>A (p.Leu1204=) c.3573C>A (p.Leu1191=) c.3561C>A (p.Leu1187=) c.3504C>A (p.Leu1168=) c.3480C>A (p.Leu1160=) c.3474C>A (p.Leu1158=) c.3456C>A (p.Leu1152=) c.3402C>A (p.Leu1134=) c.2709C>A (p.Leu903=) c.2622C>A (p.Leu874=) n.3898C>A | |
17 | g.39727936C>G | CA499890859 | ERBB2 | c.3660C>G (p.Leu1220=) c.3570C>G (p.Leu1190=) c.2832C>G (p.Leu944=) c.3615C>G (p.Leu1205=) c.*3450C>G (n.*3450C>G) c.*239C>G (n.*239C>G) n.3984C>G c.3798C>G (p.Leu1266=) c.3753C>G (p.Leu1251=) c.3708C>G (p.Leu1236=) c.3777C>G (p.Leu1259=) c.3762C>G (p.Leu1254=) c.3741C>G (p.Leu1247=) c.3735C>G (p.Leu1245=) c.3690C>G (p.Leu1230=) c.3681C>G (p.Leu1227=) c.3657C>G (p.Leu1219=) c.3651C>G (p.Leu1217=) c.3624C>G (p.Leu1208=) c.3618C>G (p.Leu1206=) c.3612C>G (p.Leu1204=) c.3573C>G (p.Leu1191=) c.3561C>G (p.Leu1187=) c.3504C>G (p.Leu1168=) c.3480C>G (p.Leu1160=) c.3474C>G (p.Leu1158=) c.3456C>G (p.Leu1152=) c.3402C>G (p.Leu1134=) c.2709C>G (p.Leu903=) c.2622C>G (p.Leu874=) n.3898C>G | dbSNP |
17 | g.39727936C>T | CA499890861 | ERBB2 | c.3660C>T (p.Leu1220=) c.3570C>T (p.Leu1190=) c.2832C>T (p.Leu944=) c.3615C>T (p.Leu1205=) c.*3450C>T (n.*3450C>T) c.*239C>T (n.*239C>T) n.3984C>T c.3798C>T (p.Leu1266=) c.3753C>T (p.Leu1251=) c.3708C>T (p.Leu1236=) c.3777C>T (p.Leu1259=) c.3762C>T (p.Leu1254=) c.3741C>T (p.Leu1247=) c.3735C>T (p.Leu1245=) c.3690C>T (p.Leu1230=) c.3681C>T (p.Leu1227=) c.3657C>T (p.Leu1219=) c.3651C>T (p.Leu1217=) c.3624C>T (p.Leu1208=) c.3618C>T (p.Leu1206=) c.3612C>T (p.Leu1204=) c.3573C>T (p.Leu1191=) c.3561C>T (p.Leu1187=) c.3504C>T (p.Leu1168=) c.3480C>T (p.Leu1160=) c.3474C>T (p.Leu1158=) c.3456C>T (p.Leu1152=) c.3402C>T (p.Leu1134=) c.2709C>T (p.Leu903=) c.2622C>T (p.Leu874=) n.3898C>T | dbSNP |
17 | g.39727937T>A | CA399314344 | ERBB2 | c.3661T>A (p.Tyr1221Asn) c.3571T>A (p.Tyr1191Asn) c.2833T>A (p.Tyr945Asn) c.3616T>A (p.Tyr1206Asn) c.*3451T>A (n.*3451T>A) c.*240T>A (n.*240T>A) n.3985T>A c.3799T>A (p.Tyr1267Asn) c.3754T>A (p.Tyr1252Asn) c.3709T>A (p.Tyr1237Asn) c.3778T>A (p.Tyr1260Asn) c.3763T>A (p.Tyr1255Asn) c.3742T>A (p.Tyr1248Asn) c.3736T>A (p.Tyr1246Asn) c.3691T>A (p.Tyr1231Asn) c.3682T>A (p.Tyr1228Asn) c.3658T>A (p.Tyr1220Asn) c.3652T>A (p.Tyr1218Asn) c.3625T>A (p.Tyr1209Asn) c.3619T>A (p.Tyr1207Asn) c.3613T>A (p.Tyr1205Asn) c.3574T>A (p.Tyr1192Asn) c.3562T>A (p.Tyr1188Asn) c.3505T>A (p.Tyr1169Asn) c.3481T>A (p.Tyr1161Asn) c.3475T>A (p.Tyr1159Asn) c.3457T>A (p.Tyr1153Asn) c.3403T>A (p.Tyr1135Asn) c.2710T>A (p.Tyr904Asn) c.2623T>A (p.Tyr875Asn) n.3899T>A | dbSNP |
17 | g.39727937T>C | CA399314346 | ERBB2 | c.3661T>C (p.Tyr1221His) c.3571T>C (p.Tyr1191His) c.2833T>C (p.Tyr945His) c.3616T>C (p.Tyr1206His) c.*3451T>C (n.*3451T>C) c.*240T>C (n.*240T>C) n.3985T>C c.3799T>C (p.Tyr1267His) c.3754T>C (p.Tyr1252His) c.3709T>C (p.Tyr1237His) c.3778T>C (p.Tyr1260His) c.3763T>C (p.Tyr1255His) c.3742T>C (p.Tyr1248His) c.3736T>C (p.Tyr1246His) c.3691T>C (p.Tyr1231His) c.3682T>C (p.Tyr1228His) c.3658T>C (p.Tyr1220His) c.3652T>C (p.Tyr1218His) c.3625T>C (p.Tyr1209His) c.3619T>C (p.Tyr1207His) c.3613T>C (p.Tyr1205His) c.3574T>C (p.Tyr1192His) c.3562T>C (p.Tyr1188His) c.3505T>C (p.Tyr1169His) c.3481T>C (p.Tyr1161His) c.3475T>C (p.Tyr1159His) c.3457T>C (p.Tyr1153His) c.3403T>C (p.Tyr1135His) c.2710T>C (p.Tyr904His) c.2623T>C (p.Tyr875His) n.3899T>C | ClinVar dbSNP gnomAD v4 |
17 | g.39727937T>G | CA399314348 | ERBB2 | c.3661T>G (p.Tyr1221Asp) c.3571T>G (p.Tyr1191Asp) c.2833T>G (p.Tyr945Asp) c.3616T>G (p.Tyr1206Asp) c.*3451T>G (n.*3451T>G) c.*240T>G (n.*240T>G) n.3985T>G c.3799T>G (p.Tyr1267Asp) c.3754T>G (p.Tyr1252Asp) c.3709T>G (p.Tyr1237Asp) c.3778T>G (p.Tyr1260Asp) c.3763T>G (p.Tyr1255Asp) c.3742T>G (p.Tyr1248Asp) c.3736T>G (p.Tyr1246Asp) c.3691T>G (p.Tyr1231Asp) c.3682T>G (p.Tyr1228Asp) c.3658T>G (p.Tyr1220Asp) c.3652T>G (p.Tyr1218Asp) c.3625T>G (p.Tyr1209Asp) c.3619T>G (p.Tyr1207Asp) c.3613T>G (p.Tyr1205Asp) c.3574T>G (p.Tyr1192Asp) c.3562T>G (p.Tyr1188Asp) c.3505T>G (p.Tyr1169Asp) c.3481T>G (p.Tyr1161Asp) c.3475T>G (p.Tyr1159Asp) c.3457T>G (p.Tyr1153Asp) c.3403T>G (p.Tyr1135Asp) c.2710T>G (p.Tyr904Asp) c.2623T>G (p.Tyr875Asp) n.3899T>G | |
17 | g.39727937dup | CA2637636817 | ERBB2 | c.3661dup (p.Tyr1221LeufsTer?) c.3571dup (p.Tyr1191LeufsTer?) c.2833dup (p.Tyr945LeufsTer?) c.3616dup (p.Tyr1206LeufsTer?) c.*3451dup (n.*3451dup) c.*240dup (n.*240dup) n.3985dup c.3799dup (p.Tyr1267LeufsTer?) c.3754dup (p.Tyr1252LeufsTer?) c.3709dup (p.Tyr1237LeufsTer?) c.3778dup (p.Tyr1260LeufsTer?) c.3763dup (p.Tyr1255LeufsTer?) c.3742dup (p.Tyr1248LeufsTer?) c.3736dup (p.Tyr1246LeufsTer?) c.3691dup (p.Tyr1231LeufsTer?) c.3682dup (p.Tyr1228LeufsTer?) c.3658dup (p.Tyr1220LeufsTer?) c.3652dup (p.Tyr1218LeufsTer?) c.3625dup (p.Tyr1209LeufsTer?) c.3619dup (p.Tyr1207LeufsTer?) c.3613dup (p.Tyr1205LeufsTer?) c.3574dup (p.Tyr1192LeufsTer?) c.3562dup (p.Tyr1188LeufsTer?) c.3505dup (p.Tyr1169LeufsTer?) c.3481dup (p.Tyr1161LeufsTer?) c.3475dup (p.Tyr1159LeufsTer?) c.3457dup (p.Tyr1153LeufsTer?) c.3403dup (p.Tyr1135LeufsTer?) c.2710dup (p.Tyr904LeufsTer?) c.2623dup (p.Tyr875LeufsTer?) n.3899dup | gnomAD v4 |
17 | g.39727938A= | CA2259229324 | ERBB2 | c.3662A= (p.Tyr1221=) c.3572A= (p.Tyr1191=) c.2834A= (p.Tyr945=) c.3617A= (p.Tyr1206=) c.*3452A= (n.*3452A=) c.*241A= (n.*241A=) n.3986A= c.3800A= (p.Tyr1267=) c.3755A= (p.Tyr1252=) c.3710A= (p.Tyr1237=) c.3779A= (p.Tyr1260=) c.3764A= (p.Tyr1255=) c.3743A= (p.Tyr1248=) c.3737A= (p.Tyr1246=) c.3692A= (p.Tyr1231=) c.3683A= (p.Tyr1228=) c.3659A= (p.Tyr1220=) c.3653A= (p.Tyr1218=) c.3626A= (p.Tyr1209=) c.3620A= (p.Tyr1207=) c.3614A= (p.Tyr1205=) c.3575A= (p.Tyr1192=) c.3563A= (p.Tyr1188=) c.3506A= (p.Tyr1169=) c.3482A= (p.Tyr1161=) c.3476A= (p.Tyr1159=) c.3458A= (p.Tyr1153=) c.3404A= (p.Tyr1135=) c.2711A= (p.Tyr904=) c.2624A= (p.Tyr875=) n.3900A= | |
17 | g.39727938A>C | CA399314352 | ERBB2 | c.3662A>C (p.Tyr1221Ser) c.3572A>C (p.Tyr1191Ser) c.2834A>C (p.Tyr945Ser) c.3617A>C (p.Tyr1206Ser) c.*3452A>C (n.*3452A>C) c.*241A>C (n.*241A>C) n.3986A>C c.3800A>C (p.Tyr1267Ser) c.3755A>C (p.Tyr1252Ser) c.3710A>C (p.Tyr1237Ser) c.3779A>C (p.Tyr1260Ser) c.3764A>C (p.Tyr1255Ser) c.3743A>C (p.Tyr1248Ser) c.3737A>C (p.Tyr1246Ser) c.3692A>C (p.Tyr1231Ser) c.3683A>C (p.Tyr1228Ser) c.3659A>C (p.Tyr1220Ser) c.3653A>C (p.Tyr1218Ser) c.3626A>C (p.Tyr1209Ser) c.3620A>C (p.Tyr1207Ser) c.3614A>C (p.Tyr1205Ser) c.3575A>C (p.Tyr1192Ser) c.3563A>C (p.Tyr1188Ser) c.3506A>C (p.Tyr1169Ser) c.3482A>C (p.Tyr1161Ser) c.3476A>C (p.Tyr1159Ser) c.3458A>C (p.Tyr1153Ser) c.3404A>C (p.Tyr1135Ser) c.2711A>C (p.Tyr904Ser) c.2624A>C (p.Tyr875Ser) n.3900A>C | dbSNP |
17 | g.39727938A>G | CA8534596 | ERBB2 | c.3662A>G (p.Tyr1221Cys) c.3572A>G (p.Tyr1191Cys) c.2834A>G (p.Tyr945Cys) c.3617A>G (p.Tyr1206Cys) c.*3452A>G (n.*3452A>G) c.*241A>G (n.*241A>G) n.3986A>G c.3800A>G (p.Tyr1267Cys) c.3755A>G (p.Tyr1252Cys) c.3710A>G (p.Tyr1237Cys) c.3779A>G (p.Tyr1260Cys) c.3764A>G (p.Tyr1255Cys) c.3743A>G (p.Tyr1248Cys) c.3737A>G (p.Tyr1246Cys) c.3692A>G (p.Tyr1231Cys) c.3683A>G (p.Tyr1228Cys) c.3659A>G (p.Tyr1220Cys) c.3653A>G (p.Tyr1218Cys) c.3626A>G (p.Tyr1209Cys) c.3620A>G (p.Tyr1207Cys) c.3614A>G (p.Tyr1205Cys) c.3575A>G (p.Tyr1192Cys) c.3563A>G (p.Tyr1188Cys) c.3506A>G (p.Tyr1169Cys) c.3482A>G (p.Tyr1161Cys) c.3476A>G (p.Tyr1159Cys) c.3458A>G (p.Tyr1153Cys) c.3404A>G (p.Tyr1135Cys) c.2711A>G (p.Tyr904Cys) c.2624A>G (p.Tyr875Cys) n.3900A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727938A>T | CA399314356 | ERBB2 | c.3662A>T (p.Tyr1221Phe) c.3572A>T (p.Tyr1191Phe) c.2834A>T (p.Tyr945Phe) c.3617A>T (p.Tyr1206Phe) c.*3452A>T (n.*3452A>T) c.*241A>T (n.*241A>T) n.3986A>T c.3800A>T (p.Tyr1267Phe) c.3755A>T (p.Tyr1252Phe) c.3710A>T (p.Tyr1237Phe) c.3779A>T (p.Tyr1260Phe) c.3764A>T (p.Tyr1255Phe) c.3743A>T (p.Tyr1248Phe) c.3737A>T (p.Tyr1246Phe) c.3692A>T (p.Tyr1231Phe) c.3683A>T (p.Tyr1228Phe) c.3659A>T (p.Tyr1220Phe) c.3653A>T (p.Tyr1218Phe) c.3626A>T (p.Tyr1209Phe) c.3620A>T (p.Tyr1207Phe) c.3614A>T (p.Tyr1205Phe) c.3575A>T (p.Tyr1192Phe) c.3563A>T (p.Tyr1188Phe) c.3506A>T (p.Tyr1169Phe) c.3482A>T (p.Tyr1161Phe) c.3476A>T (p.Tyr1159Phe) c.3458A>T (p.Tyr1153Phe) c.3404A>T (p.Tyr1135Phe) c.2711A>T (p.Tyr904Phe) c.2624A>T (p.Tyr875Phe) n.3900A>T | dbSNP |
17 | g.39727939T>A | CA399314359 | ERBB2 | c.3663T>A (p.Tyr1221Ter) c.3573T>A (p.Tyr1191Ter) c.2835T>A (p.Tyr945Ter) c.3618T>A (p.Tyr1206Ter) c.*3453T>A (n.*3453T>A) c.*242T>A (n.*242T>A) n.3987T>A c.3801T>A (p.Tyr1267Ter) c.3756T>A (p.Tyr1252Ter) c.3711T>A (p.Tyr1237Ter) c.3780T>A (p.Tyr1260Ter) c.3765T>A (p.Tyr1255Ter) c.3744T>A (p.Tyr1248Ter) c.3738T>A (p.Tyr1246Ter) c.3693T>A (p.Tyr1231Ter) c.3684T>A (p.Tyr1228Ter) c.3660T>A (p.Tyr1220Ter) c.3654T>A (p.Tyr1218Ter) c.3627T>A (p.Tyr1209Ter) c.3621T>A (p.Tyr1207Ter) c.3615T>A (p.Tyr1205Ter) c.3576T>A (p.Tyr1192Ter) c.3564T>A (p.Tyr1188Ter) c.3507T>A (p.Tyr1169Ter) c.3483T>A (p.Tyr1161Ter) c.3477T>A (p.Tyr1159Ter) c.3459T>A (p.Tyr1153Ter) c.3405T>A (p.Tyr1135Ter) c.2712T>A (p.Tyr904Ter) c.2625T>A (p.Tyr875Ter) n.3901T>A | dbSNP |
17 | g.39727939T>C | CA499890863 | ERBB2 | c.3663T>C (p.Tyr1221=) c.3573T>C (p.Tyr1191=) c.2835T>C (p.Tyr945=) c.3618T>C (p.Tyr1206=) c.*3453T>C (n.*3453T>C) c.*242T>C (n.*242T>C) n.3987T>C c.3801T>C (p.Tyr1267=) c.3756T>C (p.Tyr1252=) c.3711T>C (p.Tyr1237=) c.3780T>C (p.Tyr1260=) c.3765T>C (p.Tyr1255=) c.3744T>C (p.Tyr1248=) c.3738T>C (p.Tyr1246=) c.3693T>C (p.Tyr1231=) c.3684T>C (p.Tyr1228=) c.3660T>C (p.Tyr1220=) c.3654T>C (p.Tyr1218=) c.3627T>C (p.Tyr1209=) c.3621T>C (p.Tyr1207=) c.3615T>C (p.Tyr1205=) c.3576T>C (p.Tyr1192=) c.3564T>C (p.Tyr1188=) c.3507T>C (p.Tyr1169=) c.3483T>C (p.Tyr1161=) c.3477T>C (p.Tyr1159=) c.3459T>C (p.Tyr1153=) c.3405T>C (p.Tyr1135=) c.2712T>C (p.Tyr904=) c.2625T>C (p.Tyr875=) n.3901T>C | dbSNP |
17 | g.39727939T>G | CA399314362 | ERBB2 | c.3663T>G (p.Tyr1221Ter) c.3573T>G (p.Tyr1191Ter) c.2835T>G (p.Tyr945Ter) c.3618T>G (p.Tyr1206Ter) c.*3453T>G (n.*3453T>G) c.*242T>G (n.*242T>G) n.3987T>G c.3801T>G (p.Tyr1267Ter) c.3756T>G (p.Tyr1252Ter) c.3711T>G (p.Tyr1237Ter) c.3780T>G (p.Tyr1260Ter) c.3765T>G (p.Tyr1255Ter) c.3744T>G (p.Tyr1248Ter) c.3738T>G (p.Tyr1246Ter) c.3693T>G (p.Tyr1231Ter) c.3684T>G (p.Tyr1228Ter) c.3660T>G (p.Tyr1220Ter) c.3654T>G (p.Tyr1218Ter) c.3627T>G (p.Tyr1209Ter) c.3621T>G (p.Tyr1207Ter) c.3615T>G (p.Tyr1205Ter) c.3576T>G (p.Tyr1192Ter) c.3564T>G (p.Tyr1188Ter) c.3507T>G (p.Tyr1169Ter) c.3483T>G (p.Tyr1161Ter) c.3477T>G (p.Tyr1159Ter) c.3459T>G (p.Tyr1153Ter) c.3405T>G (p.Tyr1135Ter) c.2712T>G (p.Tyr904Ter) c.2625T>G (p.Tyr875Ter) n.3901T>G | |
17 | g.39727940T>A | CA399314369 | ERBB2 | c.3664T>A (p.Tyr1222Asn) c.3574T>A (p.Tyr1192Asn) c.2836T>A (p.Tyr946Asn) c.3619T>A (p.Tyr1207Asn) c.*3454T>A (n.*3454T>A) c.*243T>A (n.*243T>A) n.3988T>A c.3802T>A (p.Tyr1268Asn) c.3757T>A (p.Tyr1253Asn) c.3712T>A (p.Tyr1238Asn) c.3781T>A (p.Tyr1261Asn) c.3766T>A (p.Tyr1256Asn) c.3745T>A (p.Tyr1249Asn) c.3739T>A (p.Tyr1247Asn) c.3694T>A (p.Tyr1232Asn) c.3685T>A (p.Tyr1229Asn) c.3661T>A (p.Tyr1221Asn) c.3655T>A (p.Tyr1219Asn) c.3628T>A (p.Tyr1210Asn) c.3622T>A (p.Tyr1208Asn) c.3616T>A (p.Tyr1206Asn) c.3577T>A (p.Tyr1193Asn) c.3565T>A (p.Tyr1189Asn) c.3508T>A (p.Tyr1170Asn) c.3484T>A (p.Tyr1162Asn) c.3478T>A (p.Tyr1160Asn) c.3460T>A (p.Tyr1154Asn) c.3406T>A (p.Tyr1136Asn) c.2713T>A (p.Tyr905Asn) c.2626T>A (p.Tyr876Asn) n.3902T>A | dbSNP |
17 | g.39727940T>C | CA399314373 | ERBB2 | c.3664T>C (p.Tyr1222His) c.3574T>C (p.Tyr1192His) c.2836T>C (p.Tyr946His) c.3619T>C (p.Tyr1207His) c.*3454T>C (n.*3454T>C) c.*243T>C (n.*243T>C) n.3988T>C c.3802T>C (p.Tyr1268His) c.3757T>C (p.Tyr1253His) c.3712T>C (p.Tyr1238His) c.3781T>C (p.Tyr1261His) c.3766T>C (p.Tyr1256His) c.3745T>C (p.Tyr1249His) c.3739T>C (p.Tyr1247His) c.3694T>C (p.Tyr1232His) c.3685T>C (p.Tyr1229His) c.3661T>C (p.Tyr1221His) c.3655T>C (p.Tyr1219His) c.3628T>C (p.Tyr1210His) c.3622T>C (p.Tyr1208His) c.3616T>C (p.Tyr1206His) c.3577T>C (p.Tyr1193His) c.3565T>C (p.Tyr1189His) c.3508T>C (p.Tyr1170His) c.3484T>C (p.Tyr1162His) c.3478T>C (p.Tyr1160His) c.3460T>C (p.Tyr1154His) c.3406T>C (p.Tyr1136His) c.2713T>C (p.Tyr905His) c.2626T>C (p.Tyr876His) n.3902T>C | |
17 | g.39727940T>G | CA399314367 | ERBB2 | c.3664T>G (p.Tyr1222Asp) c.3574T>G (p.Tyr1192Asp) c.2836T>G (p.Tyr946Asp) c.3619T>G (p.Tyr1207Asp) c.*3454T>G (n.*3454T>G) c.*243T>G (n.*243T>G) n.3988T>G c.3802T>G (p.Tyr1268Asp) c.3757T>G (p.Tyr1253Asp) c.3712T>G (p.Tyr1238Asp) c.3781T>G (p.Tyr1261Asp) c.3766T>G (p.Tyr1256Asp) c.3745T>G (p.Tyr1249Asp) c.3739T>G (p.Tyr1247Asp) c.3694T>G (p.Tyr1232Asp) c.3685T>G (p.Tyr1229Asp) c.3661T>G (p.Tyr1221Asp) c.3655T>G (p.Tyr1219Asp) c.3628T>G (p.Tyr1210Asp) c.3622T>G (p.Tyr1208Asp) c.3616T>G (p.Tyr1206Asp) c.3577T>G (p.Tyr1193Asp) c.3565T>G (p.Tyr1189Asp) c.3508T>G (p.Tyr1170Asp) c.3484T>G (p.Tyr1162Asp) c.3478T>G (p.Tyr1160Asp) c.3460T>G (p.Tyr1154Asp) c.3406T>G (p.Tyr1136Asp) c.2713T>G (p.Tyr905Asp) c.2626T>G (p.Tyr876Asp) n.3902T>G | |
17 | g.39727941A= | CA2259229325 | ERBB2 | c.3665A= (p.Tyr1222=) c.3575A= (p.Tyr1192=) c.2837A= (p.Tyr946=) c.3620A= (p.Tyr1207=) c.*3455A= (n.*3455A=) c.*244A= (n.*244A=) n.3989A= c.3803A= (p.Tyr1268=) c.3758A= (p.Tyr1253=) c.3713A= (p.Tyr1238=) c.3782A= (p.Tyr1261=) c.3767A= (p.Tyr1256=) c.3746A= (p.Tyr1249=) c.3740A= (p.Tyr1247=) c.3695A= (p.Tyr1232=) c.3686A= (p.Tyr1229=) c.3662A= (p.Tyr1221=) c.3656A= (p.Tyr1219=) c.3629A= (p.Tyr1210=) c.3623A= (p.Tyr1208=) c.3617A= (p.Tyr1206=) c.3578A= (p.Tyr1193=) c.3566A= (p.Tyr1189=) c.3509A= (p.Tyr1170=) c.3485A= (p.Tyr1162=) c.3479A= (p.Tyr1160=) c.3461A= (p.Tyr1154=) c.3407A= (p.Tyr1136=) c.2714A= (p.Tyr905=) c.2627A= (p.Tyr876=) n.3903A= | |
17 | g.39727941A>C | CA399314376 | ERBB2 | c.3665A>C (p.Tyr1222Ser) c.3575A>C (p.Tyr1192Ser) c.2837A>C (p.Tyr946Ser) c.3620A>C (p.Tyr1207Ser) c.*3455A>C (n.*3455A>C) c.*244A>C (n.*244A>C) n.3989A>C c.3803A>C (p.Tyr1268Ser) c.3758A>C (p.Tyr1253Ser) c.3713A>C (p.Tyr1238Ser) c.3782A>C (p.Tyr1261Ser) c.3767A>C (p.Tyr1256Ser) c.3746A>C (p.Tyr1249Ser) c.3740A>C (p.Tyr1247Ser) c.3695A>C (p.Tyr1232Ser) c.3686A>C (p.Tyr1229Ser) c.3662A>C (p.Tyr1221Ser) c.3656A>C (p.Tyr1219Ser) c.3629A>C (p.Tyr1210Ser) c.3623A>C (p.Tyr1208Ser) c.3617A>C (p.Tyr1206Ser) c.3578A>C (p.Tyr1193Ser) c.3566A>C (p.Tyr1189Ser) c.3509A>C (p.Tyr1170Ser) c.3485A>C (p.Tyr1162Ser) c.3479A>C (p.Tyr1160Ser) c.3461A>C (p.Tyr1154Ser) c.3407A>C (p.Tyr1136Ser) c.2714A>C (p.Tyr905Ser) c.2627A>C (p.Tyr876Ser) n.3903A>C | dbSNP |
17 | g.39727941A>G | CA399314381 | ERBB2 | c.3665A>G (p.Tyr1222Cys) c.3575A>G (p.Tyr1192Cys) c.2837A>G (p.Tyr946Cys) c.3620A>G (p.Tyr1207Cys) c.*3455A>G (n.*3455A>G) c.*244A>G (n.*244A>G) n.3989A>G c.3803A>G (p.Tyr1268Cys) c.3758A>G (p.Tyr1253Cys) c.3713A>G (p.Tyr1238Cys) c.3782A>G (p.Tyr1261Cys) c.3767A>G (p.Tyr1256Cys) c.3746A>G (p.Tyr1249Cys) c.3740A>G (p.Tyr1247Cys) c.3695A>G (p.Tyr1232Cys) c.3686A>G (p.Tyr1229Cys) c.3662A>G (p.Tyr1221Cys) c.3656A>G (p.Tyr1219Cys) c.3629A>G (p.Tyr1210Cys) c.3623A>G (p.Tyr1208Cys) c.3617A>G (p.Tyr1206Cys) c.3578A>G (p.Tyr1193Cys) c.3566A>G (p.Tyr1189Cys) c.3509A>G (p.Tyr1170Cys) c.3485A>G (p.Tyr1162Cys) c.3479A>G (p.Tyr1160Cys) c.3461A>G (p.Tyr1154Cys) c.3407A>G (p.Tyr1136Cys) c.2714A>G (p.Tyr905Cys) c.2627A>G (p.Tyr876Cys) n.3903A>G | |
17 | g.39727941A>T | CA399314378 | ERBB2 | c.3665A>T (p.Tyr1222Phe) c.3575A>T (p.Tyr1192Phe) c.2837A>T (p.Tyr946Phe) c.3620A>T (p.Tyr1207Phe) c.*3455A>T (n.*3455A>T) c.*244A>T (n.*244A>T) n.3989A>T c.3803A>T (p.Tyr1268Phe) c.3758A>T (p.Tyr1253Phe) c.3713A>T (p.Tyr1238Phe) c.3782A>T (p.Tyr1261Phe) c.3767A>T (p.Tyr1256Phe) c.3746A>T (p.Tyr1249Phe) c.3740A>T (p.Tyr1247Phe) c.3695A>T (p.Tyr1232Phe) c.3686A>T (p.Tyr1229Phe) c.3662A>T (p.Tyr1221Phe) c.3656A>T (p.Tyr1219Phe) c.3629A>T (p.Tyr1210Phe) c.3623A>T (p.Tyr1208Phe) c.3617A>T (p.Tyr1206Phe) c.3578A>T (p.Tyr1193Phe) c.3566A>T (p.Tyr1189Phe) c.3509A>T (p.Tyr1170Phe) c.3485A>T (p.Tyr1162Phe) c.3479A>T (p.Tyr1160Phe) c.3461A>T (p.Tyr1154Phe) c.3407A>T (p.Tyr1136Phe) c.2714A>T (p.Tyr905Phe) c.2627A>T (p.Tyr876Phe) n.3903A>T | dbSNP |
17 | g.39727942C>A | CA399314385 | ERBB2 | c.3666C>A (p.Tyr1222Ter) c.3576C>A (p.Tyr1192Ter) c.2838C>A (p.Tyr946Ter) c.3621C>A (p.Tyr1207Ter) c.*3456C>A (n.*3456C>A) c.*245C>A (n.*245C>A) n.3990C>A c.3804C>A (p.Tyr1268Ter) c.3759C>A (p.Tyr1253Ter) c.3714C>A (p.Tyr1238Ter) c.3783C>A (p.Tyr1261Ter) c.3768C>A (p.Tyr1256Ter) c.3747C>A (p.Tyr1249Ter) c.3741C>A (p.Tyr1247Ter) c.3696C>A (p.Tyr1232Ter) c.3687C>A (p.Tyr1229Ter) c.3663C>A (p.Tyr1221Ter) c.3657C>A (p.Tyr1219Ter) c.3630C>A (p.Tyr1210Ter) c.3624C>A (p.Tyr1208Ter) c.3618C>A (p.Tyr1206Ter) c.3579C>A (p.Tyr1193Ter) c.3567C>A (p.Tyr1189Ter) c.3510C>A (p.Tyr1170Ter) c.3486C>A (p.Tyr1162Ter) c.3480C>A (p.Tyr1160Ter) c.3462C>A (p.Tyr1154Ter) c.3408C>A (p.Tyr1136Ter) c.2715C>A (p.Tyr905Ter) c.2628C>A (p.Tyr876Ter) n.3904C>A | dbSNP |
17 | g.39727942C>G | CA399314389 | ERBB2 | c.3666C>G (p.Tyr1222Ter) c.3576C>G (p.Tyr1192Ter) c.2838C>G (p.Tyr946Ter) c.3621C>G (p.Tyr1207Ter) c.*3456C>G (n.*3456C>G) c.*245C>G (n.*245C>G) n.3990C>G c.3804C>G (p.Tyr1268Ter) c.3759C>G (p.Tyr1253Ter) c.3714C>G (p.Tyr1238Ter) c.3783C>G (p.Tyr1261Ter) c.3768C>G (p.Tyr1256Ter) c.3747C>G (p.Tyr1249Ter) c.3741C>G (p.Tyr1247Ter) c.3696C>G (p.Tyr1232Ter) c.3687C>G (p.Tyr1229Ter) c.3663C>G (p.Tyr1221Ter) c.3657C>G (p.Tyr1219Ter) c.3630C>G (p.Tyr1210Ter) c.3624C>G (p.Tyr1208Ter) c.3618C>G (p.Tyr1206Ter) c.3579C>G (p.Tyr1193Ter) c.3567C>G (p.Tyr1189Ter) c.3510C>G (p.Tyr1170Ter) c.3486C>G (p.Tyr1162Ter) c.3480C>G (p.Tyr1160Ter) c.3462C>G (p.Tyr1154Ter) c.3408C>G (p.Tyr1136Ter) c.2715C>G (p.Tyr905Ter) c.2628C>G (p.Tyr876Ter) n.3904C>G | dbSNP |
17 | g.39727942C>T | CA499890868 | ERBB2 | c.3666C>T (p.Tyr1222=) c.3576C>T (p.Tyr1192=) c.2838C>T (p.Tyr946=) c.3621C>T (p.Tyr1207=) c.*3456C>T (n.*3456C>T) c.*245C>T (n.*245C>T) n.3990C>T c.3804C>T (p.Tyr1268=) c.3759C>T (p.Tyr1253=) c.3714C>T (p.Tyr1238=) c.3783C>T (p.Tyr1261=) c.3768C>T (p.Tyr1256=) c.3747C>T (p.Tyr1249=) c.3741C>T (p.Tyr1247=) c.3696C>T (p.Tyr1232=) c.3687C>T (p.Tyr1229=) c.3663C>T (p.Tyr1221=) c.3657C>T (p.Tyr1219=) c.3630C>T (p.Tyr1210=) c.3624C>T (p.Tyr1208=) c.3618C>T (p.Tyr1206=) c.3579C>T (p.Tyr1193=) c.3567C>T (p.Tyr1189=) c.3510C>T (p.Tyr1170=) c.3486C>T (p.Tyr1162=) c.3480C>T (p.Tyr1160=) c.3462C>T (p.Tyr1154=) c.3408C>T (p.Tyr1136=) c.2715C>T (p.Tyr905=) c.2628C>T (p.Tyr876=) n.3904C>T | dbSNP |
17 | g.39727943T>A | CA399314393 | ERBB2 | c.3667T>A (p.Trp1223Arg) c.3577T>A (p.Trp1193Arg) c.2839T>A (p.Trp947Arg) c.3622T>A (p.Trp1208Arg) c.*3457T>A (n.*3457T>A) c.*246T>A (n.*246T>A) n.3991T>A c.3805T>A (p.Trp1269Arg) c.3760T>A (p.Trp1254Arg) c.3715T>A (p.Trp1239Arg) c.3784T>A (p.Trp1262Arg) c.3769T>A (p.Trp1257Arg) c.3748T>A (p.Trp1250Arg) c.3742T>A (p.Trp1248Arg) c.3697T>A (p.Trp1233Arg) c.3688T>A (p.Trp1230Arg) c.3664T>A (p.Trp1222Arg) c.3658T>A (p.Trp1220Arg) c.3631T>A (p.Trp1211Arg) c.3625T>A (p.Trp1209Arg) c.3619T>A (p.Trp1207Arg) c.3580T>A (p.Trp1194Arg) c.3568T>A (p.Trp1190Arg) c.3511T>A (p.Trp1171Arg) c.3487T>A (p.Trp1163Arg) c.3481T>A (p.Trp1161Arg) c.3463T>A (p.Trp1155Arg) c.3409T>A (p.Trp1137Arg) c.2716T>A (p.Trp906Arg) c.2629T>A (p.Trp877Arg) n.3905T>A | |
17 | g.39727943T>C | CA399314398 | ERBB2 | c.3667T>C (p.Trp1223Arg) c.3577T>C (p.Trp1193Arg) c.2839T>C (p.Trp947Arg) c.3622T>C (p.Trp1208Arg) c.*3457T>C (n.*3457T>C) c.*246T>C (n.*246T>C) n.3991T>C c.3805T>C (p.Trp1269Arg) c.3760T>C (p.Trp1254Arg) c.3715T>C (p.Trp1239Arg) c.3784T>C (p.Trp1262Arg) c.3769T>C (p.Trp1257Arg) c.3748T>C (p.Trp1250Arg) c.3742T>C (p.Trp1248Arg) c.3697T>C (p.Trp1233Arg) c.3688T>C (p.Trp1230Arg) c.3664T>C (p.Trp1222Arg) c.3658T>C (p.Trp1220Arg) c.3631T>C (p.Trp1211Arg) c.3625T>C (p.Trp1209Arg) c.3619T>C (p.Trp1207Arg) c.3580T>C (p.Trp1194Arg) c.3568T>C (p.Trp1190Arg) c.3511T>C (p.Trp1171Arg) c.3487T>C (p.Trp1163Arg) c.3481T>C (p.Trp1161Arg) c.3463T>C (p.Trp1155Arg) c.3409T>C (p.Trp1137Arg) c.2716T>C (p.Trp906Arg) c.2629T>C (p.Trp877Arg) n.3905T>C | gnomAD v4 |
17 | g.39727943T>G | CA399314396 | ERBB2 | c.3667T>G (p.Trp1223Gly) c.3577T>G (p.Trp1193Gly) c.2839T>G (p.Trp947Gly) c.3622T>G (p.Trp1208Gly) c.*3457T>G (n.*3457T>G) c.*246T>G (n.*246T>G) n.3991T>G c.3805T>G (p.Trp1269Gly) c.3760T>G (p.Trp1254Gly) c.3715T>G (p.Trp1239Gly) c.3784T>G (p.Trp1262Gly) c.3769T>G (p.Trp1257Gly) c.3748T>G (p.Trp1250Gly) c.3742T>G (p.Trp1248Gly) c.3697T>G (p.Trp1233Gly) c.3688T>G (p.Trp1230Gly) c.3664T>G (p.Trp1222Gly) c.3658T>G (p.Trp1220Gly) c.3631T>G (p.Trp1211Gly) c.3625T>G (p.Trp1209Gly) c.3619T>G (p.Trp1207Gly) c.3580T>G (p.Trp1194Gly) c.3568T>G (p.Trp1190Gly) c.3511T>G (p.Trp1171Gly) c.3487T>G (p.Trp1163Gly) c.3481T>G (p.Trp1161Gly) c.3463T>G (p.Trp1155Gly) c.3409T>G (p.Trp1137Gly) c.2716T>G (p.Trp906Gly) c.2629T>G (p.Trp877Gly) n.3905T>G | |
17 | g.39727944G>A | CA399314403 | ERBB2 | c.3668G>A (p.Trp1223Ter) c.3578G>A (p.Trp1193Ter) c.2840G>A (p.Trp947Ter) c.3623G>A (p.Trp1208Ter) c.*3458G>A (n.*3458G>A) c.*247G>A (n.*247G>A) n.3992G>A c.3806G>A (p.Trp1269Ter) c.3761G>A (p.Trp1254Ter) c.3716G>A (p.Trp1239Ter) c.3785G>A (p.Trp1262Ter) c.3770G>A (p.Trp1257Ter) c.3749G>A (p.Trp1250Ter) c.3743G>A (p.Trp1248Ter) c.3698G>A (p.Trp1233Ter) c.3689G>A (p.Trp1230Ter) c.3665G>A (p.Trp1222Ter) c.3659G>A (p.Trp1220Ter) c.3632G>A (p.Trp1211Ter) c.3626G>A (p.Trp1209Ter) c.3620G>A (p.Trp1207Ter) c.3581G>A (p.Trp1194Ter) c.3569G>A (p.Trp1190Ter) c.3512G>A (p.Trp1171Ter) c.3488G>A (p.Trp1163Ter) c.3482G>A (p.Trp1161Ter) c.3464G>A (p.Trp1155Ter) c.3410G>A (p.Trp1137Ter) c.2717G>A (p.Trp906Ter) c.2630G>A (p.Trp877Ter) n.3906G>A | |
17 | g.39727944G>C | CA399314406 | ERBB2 | c.3668G>C (p.Trp1223Ser) c.3578G>C (p.Trp1193Ser) c.2840G>C (p.Trp947Ser) c.3623G>C (p.Trp1208Ser) c.*3458G>C (n.*3458G>C) c.*247G>C (n.*247G>C) n.3992G>C c.3806G>C (p.Trp1269Ser) c.3761G>C (p.Trp1254Ser) c.3716G>C (p.Trp1239Ser) c.3785G>C (p.Trp1262Ser) c.3770G>C (p.Trp1257Ser) c.3749G>C (p.Trp1250Ser) c.3743G>C (p.Trp1248Ser) c.3698G>C (p.Trp1233Ser) c.3689G>C (p.Trp1230Ser) c.3665G>C (p.Trp1222Ser) c.3659G>C (p.Trp1220Ser) c.3632G>C (p.Trp1211Ser) c.3626G>C (p.Trp1209Ser) c.3620G>C (p.Trp1207Ser) c.3581G>C (p.Trp1194Ser) c.3569G>C (p.Trp1190Ser) c.3512G>C (p.Trp1171Ser) c.3488G>C (p.Trp1163Ser) c.3482G>C (p.Trp1161Ser) c.3464G>C (p.Trp1155Ser) c.3410G>C (p.Trp1137Ser) c.2717G>C (p.Trp906Ser) c.2630G>C (p.Trp877Ser) n.3906G>C | |
17 | g.39727944G>T | CA399314408 | ERBB2 | c.3668G>T (p.Trp1223Leu) c.3578G>T (p.Trp1193Leu) c.2840G>T (p.Trp947Leu) c.3623G>T (p.Trp1208Leu) c.*3458G>T (n.*3458G>T) c.*247G>T (n.*247G>T) n.3992G>T c.3806G>T (p.Trp1269Leu) c.3761G>T (p.Trp1254Leu) c.3716G>T (p.Trp1239Leu) c.3785G>T (p.Trp1262Leu) c.3770G>T (p.Trp1257Leu) c.3749G>T (p.Trp1250Leu) c.3743G>T (p.Trp1248Leu) c.3698G>T (p.Trp1233Leu) c.3689G>T (p.Trp1230Leu) c.3665G>T (p.Trp1222Leu) c.3659G>T (p.Trp1220Leu) c.3632G>T (p.Trp1211Leu) c.3626G>T (p.Trp1209Leu) c.3620G>T (p.Trp1207Leu) c.3581G>T (p.Trp1194Leu) c.3569G>T (p.Trp1190Leu) c.3512G>T (p.Trp1171Leu) c.3488G>T (p.Trp1163Leu) c.3482G>T (p.Trp1161Leu) c.3464G>T (p.Trp1155Leu) c.3410G>T (p.Trp1137Leu) c.2717G>T (p.Trp906Leu) c.2630G>T (p.Trp877Leu) n.3906G>T | |
17 | g.39727944_39727950delinsGGGACCA | CA2259229326 | ERBB2 | c.3668_3674delinsGGGACCA (p.Trp1223=) c.3578_3584delinsGGGACCA (p.Trp1193=) c.2840_2846delinsGGGACCA (p.Trp947=) c.3623_3629delinsGGGACCA (p.Trp1208=) c.*3458_*3464delinsGGGACCA (n.*3458_*3464delinsGGGACCA) c.*247_*253delinsGGGACCA (n.*247_*253delinsGGGACCA) n.3992_3998delinsGGGACCA c.3806_3812delinsGGGACCA (p.Trp1269=) c.3761_3767delinsGGGACCA (p.Trp1254=) c.3716_3722delinsGGGACCA (p.Trp1239=) c.3785_3791delinsGGGACCA (p.Trp1262=) c.3770_3776delinsGGGACCA (p.Trp1257=) c.3749_3755delinsGGGACCA (p.Trp1250=) c.3743_3749delinsGGGACCA (p.Trp1248=) c.3698_3704delinsGGGACCA (p.Trp1233=) c.3689_3695delinsGGGACCA (p.Trp1230=) c.3665_3671delinsGGGACCA (p.Trp1222=) c.3659_3665delinsGGGACCA (p.Trp1220=) c.3632_3638delinsGGGACCA (p.Trp1211=) c.3626_3632delinsGGGACCA (p.Trp1209=) c.3620_3626delinsGGGACCA (p.Trp1207=) c.3581_3587delinsGGGACCA (p.Trp1194=) c.3569_3575delinsGGGACCA (p.Trp1190=) c.3512_3518delinsGGGACCA (p.Trp1171=) c.3488_3494delinsGGGACCA (p.Trp1163=) c.3482_3488delinsGGGACCA (p.Trp1161=) c.3464_3470delinsGGGACCA (p.Trp1155=) c.3410_3416delinsGGGACCA (p.Trp1137=) c.2717_2723delinsGGGACCA (p.Trp906=) c.2630_2636delinsGGGACCA (p.Trp877=) n.3906_3912delinsGGGACCA | |
17 | g.39727945G>A | CA399314417 | ERBB2 | c.3669G>A (p.Trp1223Ter) c.3579G>A (p.Trp1193Ter) c.2841G>A (p.Trp947Ter) c.3624G>A (p.Trp1208Ter) c.*3459G>A (n.*3459G>A) c.*248G>A (n.*248G>A) n.3993G>A c.3807G>A (p.Trp1269Ter) c.3762G>A (p.Trp1254Ter) c.3717G>A (p.Trp1239Ter) c.3786G>A (p.Trp1262Ter) c.3771G>A (p.Trp1257Ter) c.3750G>A (p.Trp1250Ter) c.3744G>A (p.Trp1248Ter) c.3699G>A (p.Trp1233Ter) c.3690G>A (p.Trp1230Ter) c.3666G>A (p.Trp1222Ter) c.3660G>A (p.Trp1220Ter) c.3633G>A (p.Trp1211Ter) c.3627G>A (p.Trp1209Ter) c.3621G>A (p.Trp1207Ter) c.3582G>A (p.Trp1194Ter) c.3570G>A (p.Trp1190Ter) c.3513G>A (p.Trp1171Ter) c.3489G>A (p.Trp1163Ter) c.3483G>A (p.Trp1161Ter) c.3465G>A (p.Trp1155Ter) c.3411G>A (p.Trp1137Ter) c.2718G>A (p.Trp906Ter) c.2631G>A (p.Trp877Ter) n.3907G>A | dbSNP |
17 | g.39727945G>C | CA399314420 | ERBB2 | c.3669G>C (p.Trp1223Cys) c.3579G>C (p.Trp1193Cys) c.2841G>C (p.Trp947Cys) c.3624G>C (p.Trp1208Cys) c.*3459G>C (n.*3459G>C) c.*248G>C (n.*248G>C) n.3993G>C c.3807G>C (p.Trp1269Cys) c.3762G>C (p.Trp1254Cys) c.3717G>C (p.Trp1239Cys) c.3786G>C (p.Trp1262Cys) c.3771G>C (p.Trp1257Cys) c.3750G>C (p.Trp1250Cys) c.3744G>C (p.Trp1248Cys) c.3699G>C (p.Trp1233Cys) c.3690G>C (p.Trp1230Cys) c.3666G>C (p.Trp1222Cys) c.3660G>C (p.Trp1220Cys) c.3633G>C (p.Trp1211Cys) c.3627G>C (p.Trp1209Cys) c.3621G>C (p.Trp1207Cys) c.3582G>C (p.Trp1194Cys) c.3570G>C (p.Trp1190Cys) c.3513G>C (p.Trp1171Cys) c.3489G>C (p.Trp1163Cys) c.3483G>C (p.Trp1161Cys) c.3465G>C (p.Trp1155Cys) c.3411G>C (p.Trp1137Cys) c.2718G>C (p.Trp906Cys) c.2631G>C (p.Trp877Cys) n.3907G>C | dbSNP |
17 | g.39727945G>T | CA399314423 | ERBB2 | c.3669G>T (p.Trp1223Cys) c.3579G>T (p.Trp1193Cys) c.2841G>T (p.Trp947Cys) c.3624G>T (p.Trp1208Cys) c.*3459G>T (n.*3459G>T) c.*248G>T (n.*248G>T) n.3993G>T c.3807G>T (p.Trp1269Cys) c.3762G>T (p.Trp1254Cys) c.3717G>T (p.Trp1239Cys) c.3786G>T (p.Trp1262Cys) c.3771G>T (p.Trp1257Cys) c.3750G>T (p.Trp1250Cys) c.3744G>T (p.Trp1248Cys) c.3699G>T (p.Trp1233Cys) c.3690G>T (p.Trp1230Cys) c.3666G>T (p.Trp1222Cys) c.3660G>T (p.Trp1220Cys) c.3633G>T (p.Trp1211Cys) c.3627G>T (p.Trp1209Cys) c.3621G>T (p.Trp1207Cys) c.3582G>T (p.Trp1194Cys) c.3570G>T (p.Trp1190Cys) c.3513G>T (p.Trp1171Cys) c.3489G>T (p.Trp1163Cys) c.3483G>T (p.Trp1161Cys) c.3465G>T (p.Trp1155Cys) c.3411G>T (p.Trp1137Cys) c.2718G>T (p.Trp906Cys) c.2631G>T (p.Trp877Cys) n.3907G>T | dbSNP |
17 | g.39727950_39727955del | CA8534597 | ERBB2 | c.3674_3679del (p.Gln1225_Asp1226del) c.3584_3589del (p.Gln1195_Asp1196del) c.2846_2851del (p.Gln949_Asp950del) c.3629_3634del (p.Gln1210_Asp1211del) c.*3464_*3469del (n.*3464_*3469del) c.*253_*258del (n.*253_*258del) n.3998_4003del c.3812_3817del (p.Gln1271_Asp1272del) c.3767_3772del (p.Gln1256_Asp1257del) c.3722_3727del (p.Gln1241_Asp1242del) c.3791_3796del (p.Gln1264_Asp1265del) c.3776_3781del (p.Gln1259_Asp1260del) c.3755_3760del (p.Gln1252_Asp1253del) c.3749_3754del (p.Gln1250_Asp1251del) c.3704_3709del (p.Gln1235_Asp1236del) c.3695_3700del (p.Gln1232_Asp1233del) c.3671_3676del (p.Gln1224_Asp1225del) c.3665_3670del (p.Gln1222_Asp1223del) c.3638_3643del (p.Gln1213_Asp1214del) c.3632_3637del (p.Gln1211_Asp1212del) c.3626_3631del (p.Gln1209_Asp1210del) c.3587_3592del (p.Gln1196_Asp1197del) c.3575_3580del (p.Gln1192_Asp1193del) c.3518_3523del (p.Gln1173_Asp1174del) c.3494_3499del (p.Gln1165_Asp1166del) c.3488_3493del (p.Gln1163_Asp1164del) c.3470_3475del (p.Gln1157_Asp1158del) c.3416_3421del (p.Gln1139_Asp1140del) c.2723_2728del (p.Gln908_Asp909del) c.2636_2641del (p.Gln879_Asp880del) n.3912_3917del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727946G>A | CA399314426 | ERBB2 | c.3670G>A (p.Asp1224Asn) c.3580G>A (p.Asp1194Asn) c.2842G>A (p.Asp948Asn) c.3625G>A (p.Asp1209Asn) c.*3460G>A (n.*3460G>A) c.*249G>A (n.*249G>A) n.3994G>A c.3808G>A (p.Asp1270Asn) c.3763G>A (p.Asp1255Asn) c.3718G>A (p.Asp1240Asn) c.3787G>A (p.Asp1263Asn) c.3772G>A (p.Asp1258Asn) c.3751G>A (p.Asp1251Asn) c.3745G>A (p.Asp1249Asn) c.3700G>A (p.Asp1234Asn) c.3691G>A (p.Asp1231Asn) c.3667G>A (p.Asp1223Asn) c.3661G>A (p.Asp1221Asn) c.3634G>A (p.Asp1212Asn) c.3628G>A (p.Asp1210Asn) c.3622G>A (p.Asp1208Asn) c.3583G>A (p.Asp1195Asn) c.3571G>A (p.Asp1191Asn) c.3514G>A (p.Asp1172Asn) c.3490G>A (p.Asp1164Asn) c.3484G>A (p.Asp1162Asn) c.3466G>A (p.Asp1156Asn) c.3412G>A (p.Asp1138Asn) c.2719G>A (p.Asp907Asn) c.2632G>A (p.Asp878Asn) n.3908G>A | dbSNP |
17 | g.39727946G>C | CA399314429 | ERBB2 | c.3670G>C (p.Asp1224His) c.3580G>C (p.Asp1194His) c.2842G>C (p.Asp948His) c.3625G>C (p.Asp1209His) c.*3460G>C (n.*3460G>C) c.*249G>C (n.*249G>C) n.3994G>C c.3808G>C (p.Asp1270His) c.3763G>C (p.Asp1255His) c.3718G>C (p.Asp1240His) c.3787G>C (p.Asp1263His) c.3772G>C (p.Asp1258His) c.3751G>C (p.Asp1251His) c.3745G>C (p.Asp1249His) c.3700G>C (p.Asp1234His) c.3691G>C (p.Asp1231His) c.3667G>C (p.Asp1223His) c.3661G>C (p.Asp1221His) c.3634G>C (p.Asp1212His) c.3628G>C (p.Asp1210His) c.3622G>C (p.Asp1208His) c.3583G>C (p.Asp1195His) c.3571G>C (p.Asp1191His) c.3514G>C (p.Asp1172His) c.3490G>C (p.Asp1164His) c.3484G>C (p.Asp1162His) c.3466G>C (p.Asp1156His) c.3412G>C (p.Asp1138His) c.2719G>C (p.Asp907His) c.2632G>C (p.Asp878His) n.3908G>C | dbSNP |
17 | g.39727946G= | CA2259229327 | ERBB2 | c.3670G= (p.Asp1224=) c.3580G= (p.Asp1194=) c.2842G= (p.Asp948=) c.3625G= (p.Asp1209=) c.*3460G= (n.*3460G=) c.*249G= (n.*249G=) n.3994G= c.3808G= (p.Asp1270=) c.3763G= (p.Asp1255=) c.3718G= (p.Asp1240=) c.3787G= (p.Asp1263=) c.3772G= (p.Asp1258=) c.3751G= (p.Asp1251=) c.3745G= (p.Asp1249=) c.3700G= (p.Asp1234=) c.3691G= (p.Asp1231=) c.3667G= (p.Asp1223=) c.3661G= (p.Asp1221=) c.3634G= (p.Asp1212=) c.3628G= (p.Asp1210=) c.3622G= (p.Asp1208=) c.3583G= (p.Asp1195=) c.3571G= (p.Asp1191=) c.3514G= (p.Asp1172=) c.3490G= (p.Asp1164=) c.3484G= (p.Asp1162=) c.3466G= (p.Asp1156=) c.3412G= (p.Asp1138=) c.2719G= (p.Asp907=) c.2632G= (p.Asp878=) n.3908G= | |
17 | g.39727946G>T | CA399314432 | ERBB2 | c.3670G>T (p.Asp1224Tyr) c.3580G>T (p.Asp1194Tyr) c.2842G>T (p.Asp948Tyr) c.3625G>T (p.Asp1209Tyr) c.*3460G>T (n.*3460G>T) c.*249G>T (n.*249G>T) n.3994G>T c.3808G>T (p.Asp1270Tyr) c.3763G>T (p.Asp1255Tyr) c.3718G>T (p.Asp1240Tyr) c.3787G>T (p.Asp1263Tyr) c.3772G>T (p.Asp1258Tyr) c.3751G>T (p.Asp1251Tyr) c.3745G>T (p.Asp1249Tyr) c.3700G>T (p.Asp1234Tyr) c.3691G>T (p.Asp1231Tyr) c.3667G>T (p.Asp1223Tyr) c.3661G>T (p.Asp1221Tyr) c.3634G>T (p.Asp1212Tyr) c.3628G>T (p.Asp1210Tyr) c.3622G>T (p.Asp1208Tyr) c.3583G>T (p.Asp1195Tyr) c.3571G>T (p.Asp1191Tyr) c.3514G>T (p.Asp1172Tyr) c.3490G>T (p.Asp1164Tyr) c.3484G>T (p.Asp1162Tyr) c.3466G>T (p.Asp1156Tyr) c.3412G>T (p.Asp1138Tyr) c.2719G>T (p.Asp907Tyr) c.2632G>T (p.Asp878Tyr) n.3908G>T | dbSNP |
17 | g.39727947A>C | CA399314442 | ERBB2 | c.3671A>C (p.Asp1224Ala) c.3581A>C (p.Asp1194Ala) c.2843A>C (p.Asp948Ala) c.3626A>C (p.Asp1209Ala) c.*3461A>C (n.*3461A>C) c.*250A>C (n.*250A>C) n.3995A>C c.3809A>C (p.Asp1270Ala) c.3764A>C (p.Asp1255Ala) c.3719A>C (p.Asp1240Ala) c.3788A>C (p.Asp1263Ala) c.3773A>C (p.Asp1258Ala) c.3752A>C (p.Asp1251Ala) c.3746A>C (p.Asp1249Ala) c.3701A>C (p.Asp1234Ala) c.3692A>C (p.Asp1231Ala) c.3668A>C (p.Asp1223Ala) c.3662A>C (p.Asp1221Ala) c.3635A>C (p.Asp1212Ala) c.3629A>C (p.Asp1210Ala) c.3623A>C (p.Asp1208Ala) c.3584A>C (p.Asp1195Ala) c.3572A>C (p.Asp1191Ala) c.3515A>C (p.Asp1172Ala) c.3491A>C (p.Asp1164Ala) c.3485A>C (p.Asp1162Ala) c.3467A>C (p.Asp1156Ala) c.3413A>C (p.Asp1138Ala) c.2720A>C (p.Asp907Ala) c.2633A>C (p.Asp878Ala) n.3909A>C | |
17 | g.39727947A>G | CA399314436 | ERBB2 | c.3671A>G (p.Asp1224Gly) c.3581A>G (p.Asp1194Gly) c.2843A>G (p.Asp948Gly) c.3626A>G (p.Asp1209Gly) c.*3461A>G (n.*3461A>G) c.*250A>G (n.*250A>G) n.3995A>G c.3809A>G (p.Asp1270Gly) c.3764A>G (p.Asp1255Gly) c.3719A>G (p.Asp1240Gly) c.3788A>G (p.Asp1263Gly) c.3773A>G (p.Asp1258Gly) c.3752A>G (p.Asp1251Gly) c.3746A>G (p.Asp1249Gly) c.3701A>G (p.Asp1234Gly) c.3692A>G (p.Asp1231Gly) c.3668A>G (p.Asp1223Gly) c.3662A>G (p.Asp1221Gly) c.3635A>G (p.Asp1212Gly) c.3629A>G (p.Asp1210Gly) c.3623A>G (p.Asp1208Gly) c.3584A>G (p.Asp1195Gly) c.3572A>G (p.Asp1191Gly) c.3515A>G (p.Asp1172Gly) c.3491A>G (p.Asp1164Gly) c.3485A>G (p.Asp1162Gly) c.3467A>G (p.Asp1156Gly) c.3413A>G (p.Asp1138Gly) c.2720A>G (p.Asp907Gly) c.2633A>G (p.Asp878Gly) n.3909A>G | |
17 | g.39727947A>T | CA399314440 | ERBB2 | c.3671A>T (p.Asp1224Val) c.3581A>T (p.Asp1194Val) c.2843A>T (p.Asp948Val) c.3626A>T (p.Asp1209Val) c.*3461A>T (n.*3461A>T) c.*250A>T (n.*250A>T) n.3995A>T c.3809A>T (p.Asp1270Val) c.3764A>T (p.Asp1255Val) c.3719A>T (p.Asp1240Val) c.3788A>T (p.Asp1263Val) c.3773A>T (p.Asp1258Val) c.3752A>T (p.Asp1251Val) c.3746A>T (p.Asp1249Val) c.3701A>T (p.Asp1234Val) c.3692A>T (p.Asp1231Val) c.3668A>T (p.Asp1223Val) c.3662A>T (p.Asp1221Val) c.3635A>T (p.Asp1212Val) c.3629A>T (p.Asp1210Val) c.3623A>T (p.Asp1208Val) c.3584A>T (p.Asp1195Val) c.3572A>T (p.Asp1191Val) c.3515A>T (p.Asp1172Val) c.3491A>T (p.Asp1164Val) c.3485A>T (p.Asp1162Val) c.3467A>T (p.Asp1156Val) c.3413A>T (p.Asp1138Val) c.2720A>T (p.Asp907Val) c.2633A>T (p.Asp878Val) n.3909A>T | |
17 | g.39727948C>A | CA399314447 | ERBB2 | c.3672C>A (p.Asp1224Glu) c.3582C>A (p.Asp1194Glu) c.2844C>A (p.Asp948Glu) c.3627C>A (p.Asp1209Glu) c.*3462C>A (n.*3462C>A) c.*251C>A (n.*251C>A) n.3996C>A c.3810C>A (p.Asp1270Glu) c.3765C>A (p.Asp1255Glu) c.3720C>A (p.Asp1240Glu) c.3789C>A (p.Asp1263Glu) c.3774C>A (p.Asp1258Glu) c.3753C>A (p.Asp1251Glu) c.3747C>A (p.Asp1249Glu) c.3702C>A (p.Asp1234Glu) c.3693C>A (p.Asp1231Glu) c.3669C>A (p.Asp1223Glu) c.3663C>A (p.Asp1221Glu) c.3636C>A (p.Asp1212Glu) c.3630C>A (p.Asp1210Glu) c.3624C>A (p.Asp1208Glu) c.3585C>A (p.Asp1195Glu) c.3573C>A (p.Asp1191Glu) c.3516C>A (p.Asp1172Glu) c.3492C>A (p.Asp1164Glu) c.3486C>A (p.Asp1162Glu) c.3468C>A (p.Asp1156Glu) c.3414C>A (p.Asp1138Glu) c.2721C>A (p.Asp907Glu) c.2634C>A (p.Asp878Glu) n.3910C>A | |
17 | g.39727948C= | CA2259229328 | ERBB2 | c.3672C= (p.Asp1224=) c.3582C= (p.Asp1194=) c.2844C= (p.Asp948=) c.3627C= (p.Asp1209=) c.*3462C= (n.*3462C=) c.*251C= (n.*251C=) n.3996C= c.3810C= (p.Asp1270=) c.3765C= (p.Asp1255=) c.3720C= (p.Asp1240=) c.3789C= (p.Asp1263=) c.3774C= (p.Asp1258=) c.3753C= (p.Asp1251=) c.3747C= (p.Asp1249=) c.3702C= (p.Asp1234=) c.3693C= (p.Asp1231=) c.3669C= (p.Asp1223=) c.3663C= (p.Asp1221=) c.3636C= (p.Asp1212=) c.3630C= (p.Asp1210=) c.3624C= (p.Asp1208=) c.3585C= (p.Asp1195=) c.3573C= (p.Asp1191=) c.3516C= (p.Asp1172=) c.3492C= (p.Asp1164=) c.3486C= (p.Asp1162=) c.3468C= (p.Asp1156=) c.3414C= (p.Asp1138=) c.2721C= (p.Asp907=) c.2634C= (p.Asp878=) n.3910C= | |
17 | g.39727948C>G | CA399314449 | ERBB2 | c.3672C>G (p.Asp1224Glu) c.3582C>G (p.Asp1194Glu) c.2844C>G (p.Asp948Glu) c.3627C>G (p.Asp1209Glu) c.*3462C>G (n.*3462C>G) c.*251C>G (n.*251C>G) n.3996C>G c.3810C>G (p.Asp1270Glu) c.3765C>G (p.Asp1255Glu) c.3720C>G (p.Asp1240Glu) c.3789C>G (p.Asp1263Glu) c.3774C>G (p.Asp1258Glu) c.3753C>G (p.Asp1251Glu) c.3747C>G (p.Asp1249Glu) c.3702C>G (p.Asp1234Glu) c.3693C>G (p.Asp1231Glu) c.3669C>G (p.Asp1223Glu) c.3663C>G (p.Asp1221Glu) c.3636C>G (p.Asp1212Glu) c.3630C>G (p.Asp1210Glu) c.3624C>G (p.Asp1208Glu) c.3585C>G (p.Asp1195Glu) c.3573C>G (p.Asp1191Glu) c.3516C>G (p.Asp1172Glu) c.3492C>G (p.Asp1164Glu) c.3486C>G (p.Asp1162Glu) c.3468C>G (p.Asp1156Glu) c.3414C>G (p.Asp1138Glu) c.2721C>G (p.Asp907Glu) c.2634C>G (p.Asp878Glu) n.3910C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727948C>T | CA499890872 | ERBB2 | c.3672C>T (p.Asp1224=) c.3582C>T (p.Asp1194=) c.2844C>T (p.Asp948=) c.3627C>T (p.Asp1209=) c.*3462C>T (n.*3462C>T) c.*251C>T (n.*251C>T) n.3996C>T c.3810C>T (p.Asp1270=) c.3765C>T (p.Asp1255=) c.3720C>T (p.Asp1240=) c.3789C>T (p.Asp1263=) c.3774C>T (p.Asp1258=) c.3753C>T (p.Asp1251=) c.3747C>T (p.Asp1249=) c.3702C>T (p.Asp1234=) c.3693C>T (p.Asp1231=) c.3669C>T (p.Asp1223=) c.3663C>T (p.Asp1221=) c.3636C>T (p.Asp1212=) c.3630C>T (p.Asp1210=) c.3624C>T (p.Asp1208=) c.3585C>T (p.Asp1195=) c.3573C>T (p.Asp1191=) c.3516C>T (p.Asp1172=) c.3492C>T (p.Asp1164=) c.3486C>T (p.Asp1162=) c.3468C>T (p.Asp1156=) c.3414C>T (p.Asp1138=) c.2721C>T (p.Asp907=) c.2634C>T (p.Asp878=) n.3910C>T | |
17 | g.39727949C>A | CA399314452 | ERBB2 | c.3673C>A (p.Gln1225Lys) c.3583C>A (p.Gln1195Lys) c.2845C>A (p.Gln949Lys) c.3628C>A (p.Gln1210Lys) c.*3463C>A (n.*3463C>A) c.*252C>A (n.*252C>A) n.3997C>A c.3811C>A (p.Gln1271Lys) c.3766C>A (p.Gln1256Lys) c.3721C>A (p.Gln1241Lys) c.3790C>A (p.Gln1264Lys) c.3775C>A (p.Gln1259Lys) c.3754C>A (p.Gln1252Lys) c.3748C>A (p.Gln1250Lys) c.3703C>A (p.Gln1235Lys) c.3694C>A (p.Gln1232Lys) c.3670C>A (p.Gln1224Lys) c.3664C>A (p.Gln1222Lys) c.3637C>A (p.Gln1213Lys) c.3631C>A (p.Gln1211Lys) c.3625C>A (p.Gln1209Lys) c.3586C>A (p.Gln1196Lys) c.3574C>A (p.Gln1192Lys) c.3517C>A (p.Gln1173Lys) c.3493C>A (p.Gln1165Lys) c.3487C>A (p.Gln1163Lys) c.3469C>A (p.Gln1157Lys) c.3415C>A (p.Gln1139Lys) c.2722C>A (p.Gln908Lys) c.2635C>A (p.Gln879Lys) n.3911C>A | dbSNP |
17 | g.39727949C>G | CA399314453 | ERBB2 | c.3673C>G (p.Gln1225Glu) c.3583C>G (p.Gln1195Glu) c.2845C>G (p.Gln949Glu) c.3628C>G (p.Gln1210Glu) c.*3463C>G (n.*3463C>G) c.*252C>G (n.*252C>G) n.3997C>G c.3811C>G (p.Gln1271Glu) c.3766C>G (p.Gln1256Glu) c.3721C>G (p.Gln1241Glu) c.3790C>G (p.Gln1264Glu) c.3775C>G (p.Gln1259Glu) c.3754C>G (p.Gln1252Glu) c.3748C>G (p.Gln1250Glu) c.3703C>G (p.Gln1235Glu) c.3694C>G (p.Gln1232Glu) c.3670C>G (p.Gln1224Glu) c.3664C>G (p.Gln1222Glu) c.3637C>G (p.Gln1213Glu) c.3631C>G (p.Gln1211Glu) c.3625C>G (p.Gln1209Glu) c.3586C>G (p.Gln1196Glu) c.3574C>G (p.Gln1192Glu) c.3517C>G (p.Gln1173Glu) c.3493C>G (p.Gln1165Glu) c.3487C>G (p.Gln1163Glu) c.3469C>G (p.Gln1157Glu) c.3415C>G (p.Gln1139Glu) c.2722C>G (p.Gln908Glu) c.2635C>G (p.Gln879Glu) n.3911C>G | dbSNP |
17 | g.39727949C>T | CA399314455 | ERBB2 | c.3673C>T (p.Gln1225Ter) c.3583C>T (p.Gln1195Ter) c.2845C>T (p.Gln949Ter) c.3628C>T (p.Gln1210Ter) c.*3463C>T (n.*3463C>T) c.*252C>T (n.*252C>T) n.3997C>T c.3811C>T (p.Gln1271Ter) c.3766C>T (p.Gln1256Ter) c.3721C>T (p.Gln1241Ter) c.3790C>T (p.Gln1264Ter) c.3775C>T (p.Gln1259Ter) c.3754C>T (p.Gln1252Ter) c.3748C>T (p.Gln1250Ter) c.3703C>T (p.Gln1235Ter) c.3694C>T (p.Gln1232Ter) c.3670C>T (p.Gln1224Ter) c.3664C>T (p.Gln1222Ter) c.3637C>T (p.Gln1213Ter) c.3631C>T (p.Gln1211Ter) c.3625C>T (p.Gln1209Ter) c.3586C>T (p.Gln1196Ter) c.3574C>T (p.Gln1192Ter) c.3517C>T (p.Gln1173Ter) c.3493C>T (p.Gln1165Ter) c.3487C>T (p.Gln1163Ter) c.3469C>T (p.Gln1157Ter) c.3415C>T (p.Gln1139Ter) c.2722C>T (p.Gln908Ter) c.2635C>T (p.Gln879Ter) n.3911C>T | ClinVar dbSNP |
17 | g.39727950A>C | CA399314460 | ERBB2 | c.3674A>C (p.Gln1225Pro) c.3584A>C (p.Gln1195Pro) c.2846A>C (p.Gln949Pro) c.3629A>C (p.Gln1210Pro) c.*3464A>C (n.*3464A>C) c.*253A>C (n.*253A>C) n.3998A>C c.3812A>C (p.Gln1271Pro) c.3767A>C (p.Gln1256Pro) c.3722A>C (p.Gln1241Pro) c.3791A>C (p.Gln1264Pro) c.3776A>C (p.Gln1259Pro) c.3755A>C (p.Gln1252Pro) c.3749A>C (p.Gln1250Pro) c.3704A>C (p.Gln1235Pro) c.3695A>C (p.Gln1232Pro) c.3671A>C (p.Gln1224Pro) c.3665A>C (p.Gln1222Pro) c.3638A>C (p.Gln1213Pro) c.3632A>C (p.Gln1211Pro) c.3626A>C (p.Gln1209Pro) c.3587A>C (p.Gln1196Pro) c.3575A>C (p.Gln1192Pro) c.3518A>C (p.Gln1173Pro) c.3494A>C (p.Gln1165Pro) c.3488A>C (p.Gln1163Pro) c.3470A>C (p.Gln1157Pro) c.3416A>C (p.Gln1139Pro) c.2723A>C (p.Gln908Pro) c.2636A>C (p.Gln879Pro) n.3912A>C | |
17 | g.39727950A>G | CA399314462 | ERBB2 | c.3674A>G (p.Gln1225Arg) c.3584A>G (p.Gln1195Arg) c.2846A>G (p.Gln949Arg) c.3629A>G (p.Gln1210Arg) c.*3464A>G (n.*3464A>G) c.*253A>G (n.*253A>G) n.3998A>G c.3812A>G (p.Gln1271Arg) c.3767A>G (p.Gln1256Arg) c.3722A>G (p.Gln1241Arg) c.3791A>G (p.Gln1264Arg) c.3776A>G (p.Gln1259Arg) c.3755A>G (p.Gln1252Arg) c.3749A>G (p.Gln1250Arg) c.3704A>G (p.Gln1235Arg) c.3695A>G (p.Gln1232Arg) c.3671A>G (p.Gln1224Arg) c.3665A>G (p.Gln1222Arg) c.3638A>G (p.Gln1213Arg) c.3632A>G (p.Gln1211Arg) c.3626A>G (p.Gln1209Arg) c.3587A>G (p.Gln1196Arg) c.3575A>G (p.Gln1192Arg) c.3518A>G (p.Gln1173Arg) c.3494A>G (p.Gln1165Arg) c.3488A>G (p.Gln1163Arg) c.3470A>G (p.Gln1157Arg) c.3416A>G (p.Gln1139Arg) c.2723A>G (p.Gln908Arg) c.2636A>G (p.Gln879Arg) n.3912A>G | dbSNP |
17 | g.39727950A>T | CA399314465 | ERBB2 | c.3674A>T (p.Gln1225Leu) c.3584A>T (p.Gln1195Leu) c.2846A>T (p.Gln949Leu) c.3629A>T (p.Gln1210Leu) c.*3464A>T (n.*3464A>T) c.*253A>T (n.*253A>T) n.3998A>T c.3812A>T (p.Gln1271Leu) c.3767A>T (p.Gln1256Leu) c.3722A>T (p.Gln1241Leu) c.3791A>T (p.Gln1264Leu) c.3776A>T (p.Gln1259Leu) c.3755A>T (p.Gln1252Leu) c.3749A>T (p.Gln1250Leu) c.3704A>T (p.Gln1235Leu) c.3695A>T (p.Gln1232Leu) c.3671A>T (p.Gln1224Leu) c.3665A>T (p.Gln1222Leu) c.3638A>T (p.Gln1213Leu) c.3632A>T (p.Gln1211Leu) c.3626A>T (p.Gln1209Leu) c.3587A>T (p.Gln1196Leu) c.3575A>T (p.Gln1192Leu) c.3518A>T (p.Gln1173Leu) c.3494A>T (p.Gln1165Leu) c.3488A>T (p.Gln1163Leu) c.3470A>T (p.Gln1157Leu) c.3416A>T (p.Gln1139Leu) c.2723A>T (p.Gln908Leu) c.2636A>T (p.Gln879Leu) n.3912A>T | |
17 | g.39727951G>A | CA499890875 | ERBB2 | c.3675G>A (p.Gln1225=) c.3585G>A (p.Gln1195=) c.2847G>A (p.Gln949=) c.3630G>A (p.Gln1210=) c.*3465G>A (n.*3465G>A) c.*254G>A (n.*254G>A) n.3999G>A c.3813G>A (p.Gln1271=) c.3768G>A (p.Gln1256=) c.3723G>A (p.Gln1241=) c.3792G>A (p.Gln1264=) c.3777G>A (p.Gln1259=) c.3756G>A (p.Gln1252=) c.3750G>A (p.Gln1250=) c.3705G>A (p.Gln1235=) c.3696G>A (p.Gln1232=) c.3672G>A (p.Gln1224=) c.3666G>A (p.Gln1222=) c.3639G>A (p.Gln1213=) c.3633G>A (p.Gln1211=) c.3627G>A (p.Gln1209=) c.3588G>A (p.Gln1196=) c.3576G>A (p.Gln1192=) c.3519G>A (p.Gln1173=) c.3495G>A (p.Gln1165=) c.3489G>A (p.Gln1163=) c.3471G>A (p.Gln1157=) c.3417G>A (p.Gln1139=) c.2724G>A (p.Gln908=) c.2637G>A (p.Gln879=) n.3913G>A | dbSNP |
17 | g.39727951G>C | CA399314470 | ERBB2 | c.3675G>C (p.Gln1225His) c.3585G>C (p.Gln1195His) c.2847G>C (p.Gln949His) c.3630G>C (p.Gln1210His) c.*3465G>C (n.*3465G>C) c.*254G>C (n.*254G>C) n.3999G>C c.3813G>C (p.Gln1271His) c.3768G>C (p.Gln1256His) c.3723G>C (p.Gln1241His) c.3792G>C (p.Gln1264His) c.3777G>C (p.Gln1259His) c.3756G>C (p.Gln1252His) c.3750G>C (p.Gln1250His) c.3705G>C (p.Gln1235His) c.3696G>C (p.Gln1232His) c.3672G>C (p.Gln1224His) c.3666G>C (p.Gln1222His) c.3639G>C (p.Gln1213His) c.3633G>C (p.Gln1211His) c.3627G>C (p.Gln1209His) c.3588G>C (p.Gln1196His) c.3576G>C (p.Gln1192His) c.3519G>C (p.Gln1173His) c.3495G>C (p.Gln1165His) c.3489G>C (p.Gln1163His) c.3471G>C (p.Gln1157His) c.3417G>C (p.Gln1139His) c.2724G>C (p.Gln908His) c.2637G>C (p.Gln879His) n.3913G>C | ClinVar dbSNP gnomAD v4 |
17 | g.39727951G= | CA2259229329 | ERBB2 | c.3675G= (p.Gln1225=) c.3585G= (p.Gln1195=) c.2847G= (p.Gln949=) c.3630G= (p.Gln1210=) c.*3465G= (n.*3465G=) c.*254G= (n.*254G=) n.3999G= c.3813G= (p.Gln1271=) c.3768G= (p.Gln1256=) c.3723G= (p.Gln1241=) c.3792G= (p.Gln1264=) c.3777G= (p.Gln1259=) c.3756G= (p.Gln1252=) c.3750G= (p.Gln1250=) c.3705G= (p.Gln1235=) c.3696G= (p.Gln1232=) c.3672G= (p.Gln1224=) c.3666G= (p.Gln1222=) c.3639G= (p.Gln1213=) c.3633G= (p.Gln1211=) c.3627G= (p.Gln1209=) c.3588G= (p.Gln1196=) c.3576G= (p.Gln1192=) c.3519G= (p.Gln1173=) c.3495G= (p.Gln1165=) c.3489G= (p.Gln1163=) c.3471G= (p.Gln1157=) c.3417G= (p.Gln1139=) c.2724G= (p.Gln908=) c.2637G= (p.Gln879=) n.3913G= | |
17 | g.39727951G>T | CA399314473 | ERBB2 | c.3675G>T (p.Gln1225His) c.3585G>T (p.Gln1195His) c.2847G>T (p.Gln949His) c.3630G>T (p.Gln1210His) c.*3465G>T (n.*3465G>T) c.*254G>T (n.*254G>T) n.3999G>T c.3813G>T (p.Gln1271His) c.3768G>T (p.Gln1256His) c.3723G>T (p.Gln1241His) c.3792G>T (p.Gln1264His) c.3777G>T (p.Gln1259His) c.3756G>T (p.Gln1252His) c.3750G>T (p.Gln1250His) c.3705G>T (p.Gln1235His) c.3696G>T (p.Gln1232His) c.3672G>T (p.Gln1224His) c.3666G>T (p.Gln1222His) c.3639G>T (p.Gln1213His) c.3633G>T (p.Gln1211His) c.3627G>T (p.Gln1209His) c.3588G>T (p.Gln1196His) c.3576G>T (p.Gln1192His) c.3519G>T (p.Gln1173His) c.3495G>T (p.Gln1165His) c.3489G>T (p.Gln1163His) c.3471G>T (p.Gln1157His) c.3417G>T (p.Gln1139His) c.2724G>T (p.Gln908His) c.2637G>T (p.Gln879His) n.3913G>T | |
17 | g.39727952G>A | CA8534598 | ERBB2 | c.3676G>A (p.Asp1226Asn) c.3586G>A (p.Asp1196Asn) c.2848G>A (p.Asp950Asn) c.3631G>A (p.Asp1211Asn) c.*3466G>A (n.*3466G>A) c.*255G>A (n.*255G>A) n.4000G>A c.3814G>A (p.Asp1272Asn) c.3769G>A (p.Asp1257Asn) c.3724G>A (p.Asp1242Asn) c.3793G>A (p.Asp1265Asn) c.3778G>A (p.Asp1260Asn) c.3757G>A (p.Asp1253Asn) c.3751G>A (p.Asp1251Asn) c.3706G>A (p.Asp1236Asn) c.3697G>A (p.Asp1233Asn) c.3673G>A (p.Asp1225Asn) c.3667G>A (p.Asp1223Asn) c.3640G>A (p.Asp1214Asn) c.3634G>A (p.Asp1212Asn) c.3628G>A (p.Asp1210Asn) c.3589G>A (p.Asp1197Asn) c.3577G>A (p.Asp1193Asn) c.3520G>A (p.Asp1174Asn) c.3496G>A (p.Asp1166Asn) c.3490G>A (p.Asp1164Asn) c.3472G>A (p.Asp1158Asn) c.3418G>A (p.Asp1140Asn) c.2725G>A (p.Asp909Asn) c.2638G>A (p.Asp880Asn) n.3914G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727952G>C | CA399314480 | ERBB2 | c.3676G>C (p.Asp1226His) c.3586G>C (p.Asp1196His) c.2848G>C (p.Asp950His) c.3631G>C (p.Asp1211His) c.*3466G>C (n.*3466G>C) c.*255G>C (n.*255G>C) n.4000G>C c.3814G>C (p.Asp1272His) c.3769G>C (p.Asp1257His) c.3724G>C (p.Asp1242His) c.3793G>C (p.Asp1265His) c.3778G>C (p.Asp1260His) c.3757G>C (p.Asp1253His) c.3751G>C (p.Asp1251His) c.3706G>C (p.Asp1236His) c.3697G>C (p.Asp1233His) c.3673G>C (p.Asp1225His) c.3667G>C (p.Asp1223His) c.3640G>C (p.Asp1214His) c.3634G>C (p.Asp1212His) c.3628G>C (p.Asp1210His) c.3589G>C (p.Asp1197His) c.3577G>C (p.Asp1193His) c.3520G>C (p.Asp1174His) c.3496G>C (p.Asp1166His) c.3490G>C (p.Asp1164His) c.3472G>C (p.Asp1158His) c.3418G>C (p.Asp1140His) c.2725G>C (p.Asp909His) c.2638G>C (p.Asp880His) n.3914G>C | dbSNP |
17 | g.39727952G= | CA2259229330 | ERBB2 | c.3676G= (p.Asp1226=) c.3586G= (p.Asp1196=) c.2848G= (p.Asp950=) c.3631G= (p.Asp1211=) c.*3466G= (n.*3466G=) c.*255G= (n.*255G=) n.4000G= c.3814G= (p.Asp1272=) c.3769G= (p.Asp1257=) c.3724G= (p.Asp1242=) c.3793G= (p.Asp1265=) c.3778G= (p.Asp1260=) c.3757G= (p.Asp1253=) c.3751G= (p.Asp1251=) c.3706G= (p.Asp1236=) c.3697G= (p.Asp1233=) c.3673G= (p.Asp1225=) c.3667G= (p.Asp1223=) c.3640G= (p.Asp1214=) c.3634G= (p.Asp1212=) c.3628G= (p.Asp1210=) c.3589G= (p.Asp1197=) c.3577G= (p.Asp1193=) c.3520G= (p.Asp1174=) c.3496G= (p.Asp1166=) c.3490G= (p.Asp1164=) c.3472G= (p.Asp1158=) c.3418G= (p.Asp1140=) c.2725G= (p.Asp909=) c.2638G= (p.Asp880=) n.3914G= | |
17 | g.39727952G>T | CA399314476 | ERBB2 | c.3676G>T (p.Asp1226Tyr) c.3586G>T (p.Asp1196Tyr) c.2848G>T (p.Asp950Tyr) c.3631G>T (p.Asp1211Tyr) c.*3466G>T (n.*3466G>T) c.*255G>T (n.*255G>T) n.4000G>T c.3814G>T (p.Asp1272Tyr) c.3769G>T (p.Asp1257Tyr) c.3724G>T (p.Asp1242Tyr) c.3793G>T (p.Asp1265Tyr) c.3778G>T (p.Asp1260Tyr) c.3757G>T (p.Asp1253Tyr) c.3751G>T (p.Asp1251Tyr) c.3706G>T (p.Asp1236Tyr) c.3697G>T (p.Asp1233Tyr) c.3673G>T (p.Asp1225Tyr) c.3667G>T (p.Asp1223Tyr) c.3640G>T (p.Asp1214Tyr) c.3634G>T (p.Asp1212Tyr) c.3628G>T (p.Asp1210Tyr) c.3589G>T (p.Asp1197Tyr) c.3577G>T (p.Asp1193Tyr) c.3520G>T (p.Asp1174Tyr) c.3496G>T (p.Asp1166Tyr) c.3490G>T (p.Asp1164Tyr) c.3472G>T (p.Asp1158Tyr) c.3418G>T (p.Asp1140Tyr) c.2725G>T (p.Asp909Tyr) c.2638G>T (p.Asp880Tyr) n.3914G>T | |
17 | g.39727953A= | CA2259229331 | ERBB2 | c.3677A= (p.Asp1226=) c.3587A= (p.Asp1196=) c.2849A= (p.Asp950=) c.3632A= (p.Asp1211=) c.*3467A= (n.*3467A=) c.*256A= (n.*256A=) n.4001A= c.3815A= (p.Asp1272=) c.3770A= (p.Asp1257=) c.3725A= (p.Asp1242=) c.3794A= (p.Asp1265=) c.3779A= (p.Asp1260=) c.3758A= (p.Asp1253=) c.3752A= (p.Asp1251=) c.3707A= (p.Asp1236=) c.3698A= (p.Asp1233=) c.3674A= (p.Asp1225=) c.3668A= (p.Asp1223=) c.3641A= (p.Asp1214=) c.3635A= (p.Asp1212=) c.3629A= (p.Asp1210=) c.3590A= (p.Asp1197=) c.3578A= (p.Asp1193=) c.3521A= (p.Asp1174=) c.3497A= (p.Asp1166=) c.3491A= (p.Asp1164=) c.3473A= (p.Asp1158=) c.3419A= (p.Asp1140=) c.2726A= (p.Asp909=) c.2639A= (p.Asp880=) n.3915A= | |
17 | g.39727953A>C | CA399314485 | ERBB2 | c.3677A>C (p.Asp1226Ala) c.3587A>C (p.Asp1196Ala) c.2849A>C (p.Asp950Ala) c.3632A>C (p.Asp1211Ala) c.*3467A>C (n.*3467A>C) c.*256A>C (n.*256A>C) n.4001A>C c.3815A>C (p.Asp1272Ala) c.3770A>C (p.Asp1257Ala) c.3725A>C (p.Asp1242Ala) c.3794A>C (p.Asp1265Ala) c.3779A>C (p.Asp1260Ala) c.3758A>C (p.Asp1253Ala) c.3752A>C (p.Asp1251Ala) c.3707A>C (p.Asp1236Ala) c.3698A>C (p.Asp1233Ala) c.3674A>C (p.Asp1225Ala) c.3668A>C (p.Asp1223Ala) c.3641A>C (p.Asp1214Ala) c.3635A>C (p.Asp1212Ala) c.3629A>C (p.Asp1210Ala) c.3590A>C (p.Asp1197Ala) c.3578A>C (p.Asp1193Ala) c.3521A>C (p.Asp1174Ala) c.3497A>C (p.Asp1166Ala) c.3491A>C (p.Asp1164Ala) c.3473A>C (p.Asp1158Ala) c.3419A>C (p.Asp1140Ala) c.2726A>C (p.Asp909Ala) c.2639A>C (p.Asp880Ala) n.3915A>C | |
17 | g.39727953A>G | CA399314487 | ERBB2 | c.3677A>G (p.Asp1226Gly) c.3587A>G (p.Asp1196Gly) c.2849A>G (p.Asp950Gly) c.3632A>G (p.Asp1211Gly) c.*3467A>G (n.*3467A>G) c.*256A>G (n.*256A>G) n.4001A>G c.3815A>G (p.Asp1272Gly) c.3770A>G (p.Asp1257Gly) c.3725A>G (p.Asp1242Gly) c.3794A>G (p.Asp1265Gly) c.3779A>G (p.Asp1260Gly) c.3758A>G (p.Asp1253Gly) c.3752A>G (p.Asp1251Gly) c.3707A>G (p.Asp1236Gly) c.3698A>G (p.Asp1233Gly) c.3674A>G (p.Asp1225Gly) c.3668A>G (p.Asp1223Gly) c.3641A>G (p.Asp1214Gly) c.3635A>G (p.Asp1212Gly) c.3629A>G (p.Asp1210Gly) c.3590A>G (p.Asp1197Gly) c.3578A>G (p.Asp1193Gly) c.3521A>G (p.Asp1174Gly) c.3497A>G (p.Asp1166Gly) c.3491A>G (p.Asp1164Gly) c.3473A>G (p.Asp1158Gly) c.3419A>G (p.Asp1140Gly) c.2726A>G (p.Asp909Gly) c.2639A>G (p.Asp880Gly) n.3915A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727953A>T | CA399314490 | ERBB2 | c.3677A>T (p.Asp1226Val) c.3587A>T (p.Asp1196Val) c.2849A>T (p.Asp950Val) c.3632A>T (p.Asp1211Val) c.*3467A>T (n.*3467A>T) c.*256A>T (n.*256A>T) n.4001A>T c.3815A>T (p.Asp1272Val) c.3770A>T (p.Asp1257Val) c.3725A>T (p.Asp1242Val) c.3794A>T (p.Asp1265Val) c.3779A>T (p.Asp1260Val) c.3758A>T (p.Asp1253Val) c.3752A>T (p.Asp1251Val) c.3707A>T (p.Asp1236Val) c.3698A>T (p.Asp1233Val) c.3674A>T (p.Asp1225Val) c.3668A>T (p.Asp1223Val) c.3641A>T (p.Asp1214Val) c.3635A>T (p.Asp1212Val) c.3629A>T (p.Asp1210Val) c.3590A>T (p.Asp1197Val) c.3578A>T (p.Asp1193Val) c.3521A>T (p.Asp1174Val) c.3497A>T (p.Asp1166Val) c.3491A>T (p.Asp1164Val) c.3473A>T (p.Asp1158Val) c.3419A>T (p.Asp1140Val) c.2726A>T (p.Asp909Val) c.2639A>T (p.Asp880Val) n.3915A>T | dbSNP |
17 | g.39727954C>A | CA399314492 | ERBB2 | c.3678C>A (p.Asp1226Glu) c.3588C>A (p.Asp1196Glu) c.2850C>A (p.Asp950Glu) c.3633C>A (p.Asp1211Glu) c.*3468C>A (n.*3468C>A) c.*257C>A (n.*257C>A) n.4002C>A c.3816C>A (p.Asp1272Glu) c.3771C>A (p.Asp1257Glu) c.3726C>A (p.Asp1242Glu) c.3795C>A (p.Asp1265Glu) c.3780C>A (p.Asp1260Glu) c.3759C>A (p.Asp1253Glu) c.3753C>A (p.Asp1251Glu) c.3708C>A (p.Asp1236Glu) c.3699C>A (p.Asp1233Glu) c.3675C>A (p.Asp1225Glu) c.3669C>A (p.Asp1223Glu) c.3642C>A (p.Asp1214Glu) c.3636C>A (p.Asp1212Glu) c.3630C>A (p.Asp1210Glu) c.3591C>A (p.Asp1197Glu) c.3579C>A (p.Asp1193Glu) c.3522C>A (p.Asp1174Glu) c.3498C>A (p.Asp1166Glu) c.3492C>A (p.Asp1164Glu) c.3474C>A (p.Asp1158Glu) c.3420C>A (p.Asp1140Glu) c.2727C>A (p.Asp909Glu) c.2640C>A (p.Asp880Glu) n.3916C>A | |
17 | g.39727954C>G | CA399314495 | ERBB2 | c.3678C>G (p.Asp1226Glu) c.3588C>G (p.Asp1196Glu) c.2850C>G (p.Asp950Glu) c.3633C>G (p.Asp1211Glu) c.*3468C>G (n.*3468C>G) c.*257C>G (n.*257C>G) n.4002C>G c.3816C>G (p.Asp1272Glu) c.3771C>G (p.Asp1257Glu) c.3726C>G (p.Asp1242Glu) c.3795C>G (p.Asp1265Glu) c.3780C>G (p.Asp1260Glu) c.3759C>G (p.Asp1253Glu) c.3753C>G (p.Asp1251Glu) c.3708C>G (p.Asp1236Glu) c.3699C>G (p.Asp1233Glu) c.3675C>G (p.Asp1225Glu) c.3669C>G (p.Asp1223Glu) c.3642C>G (p.Asp1214Glu) c.3636C>G (p.Asp1212Glu) c.3630C>G (p.Asp1210Glu) c.3591C>G (p.Asp1197Glu) c.3579C>G (p.Asp1193Glu) c.3522C>G (p.Asp1174Glu) c.3498C>G (p.Asp1166Glu) c.3492C>G (p.Asp1164Glu) c.3474C>G (p.Asp1158Glu) c.3420C>G (p.Asp1140Glu) c.2727C>G (p.Asp909Glu) c.2640C>G (p.Asp880Glu) n.3916C>G | dbSNP |
17 | g.39727954C>T | CA499890882 | ERBB2 | c.3678C>T (p.Asp1226=) c.3588C>T (p.Asp1196=) c.2850C>T (p.Asp950=) c.3633C>T (p.Asp1211=) c.*3468C>T (n.*3468C>T) c.*257C>T (n.*257C>T) n.4002C>T c.3816C>T (p.Asp1272=) c.3771C>T (p.Asp1257=) c.3726C>T (p.Asp1242=) c.3795C>T (p.Asp1265=) c.3780C>T (p.Asp1260=) c.3759C>T (p.Asp1253=) c.3753C>T (p.Asp1251=) c.3708C>T (p.Asp1236=) c.3699C>T (p.Asp1233=) c.3675C>T (p.Asp1225=) c.3669C>T (p.Asp1223=) c.3642C>T (p.Asp1214=) c.3636C>T (p.Asp1212=) c.3630C>T (p.Asp1210=) c.3591C>T (p.Asp1197=) c.3579C>T (p.Asp1193=) c.3522C>T (p.Asp1174=) c.3498C>T (p.Asp1166=) c.3492C>T (p.Asp1164=) c.3474C>T (p.Asp1158=) c.3420C>T (p.Asp1140=) c.2727C>T (p.Asp909=) c.2640C>T (p.Asp880=) n.3916C>T | dbSNP gnomAD v4 |