| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39727783_39727784delinsGC | CA2259229259 | ERBB2 | c.3507_3508delinsGC (p.Arg1169=) c.3417_3418delinsGC (p.Arg1139=) c.2679_2680delinsGC (p.Arg893=) c.3462_3463delinsGC (p.Arg1154=) c.*3297_*3298delinsGC (n.*3297_*3298delinsGC) c.*86_*87delinsGC (n.*86_*87delinsGC) n.3831_3832delinsGC c.3645_3646delinsGC (p.Arg1215=) c.3600_3601delinsGC (p.Arg1200=) c.3555_3556delinsGC (p.Arg1185=) c.3624_3625delinsGC (p.Arg1208=) c.3609_3610delinsGC (p.Arg1203=) c.3588_3589delinsGC (p.Arg1196=) c.3582_3583delinsGC (p.Arg1194=) c.3537_3538delinsGC (p.Arg1179=) c.3528_3529delinsGC (p.Arg1176=) c.3504_3505delinsGC (p.Arg1168=) c.3498_3499delinsGC (p.Arg1166=) c.3471_3472delinsGC (p.Arg1157=) c.3465_3466delinsGC (p.Arg1155=) c.3459_3460delinsGC (p.Arg1153=) c.3420_3421delinsGC (p.Arg1140=) c.3408_3409delinsGC (p.Arg1136=) c.3351_3352delinsGC (p.Arg1117=) c.3327_3328delinsGC (p.Arg1109=) c.3321_3322delinsGC (p.Arg1107=) c.3303_3304delinsGC (p.Arg1101=) c.3249_3250delinsGC (p.Arg1083=) c.2556_2557delinsGC (p.Arg852=) c.2469_2470delinsGC (p.Arg823=) n.3745_3746delinsGC | |
| 17 | g.39727784C>A | CA399313199 | ERBB2 | c.3508C>A (p.Pro1170Thr) c.3418C>A (p.Pro1140Thr) c.2680C>A (p.Pro894Thr) c.3463C>A (p.Pro1155Thr) c.*3298C>A (n.*3298C>A) c.*87C>A (n.*87C>A) n.3832C>A c.3646C>A (p.Pro1216Thr) c.3601C>A (p.Pro1201Thr) c.3556C>A (p.Pro1186Thr) c.3625C>A (p.Pro1209Thr) c.3610C>A (p.Pro1204Thr) c.3589C>A (p.Pro1197Thr) c.3583C>A (p.Pro1195Thr) c.3538C>A (p.Pro1180Thr) c.3529C>A (p.Pro1177Thr) c.3505C>A (p.Pro1169Thr) c.3499C>A (p.Pro1167Thr) c.3472C>A (p.Pro1158Thr) c.3466C>A (p.Pro1156Thr) c.3460C>A (p.Pro1154Thr) c.3421C>A (p.Pro1141Thr) c.3409C>A (p.Pro1137Thr) c.3352C>A (p.Pro1118Thr) c.3328C>A (p.Pro1110Thr) c.3322C>A (p.Pro1108Thr) c.3304C>A (p.Pro1102Thr) c.3250C>A (p.Pro1084Thr) c.2557C>A (p.Pro853Thr) c.2470C>A (p.Pro824Thr) n.3746C>A | dbSNP gnomAD v4 |
| 17 | g.39727784C= | CA2259229260 | ERBB2 | c.3508C= (p.Pro1170=) c.3418C= (p.Pro1140=) c.2680C= (p.Pro894=) c.3463C= (p.Pro1155=) c.*3298C= (n.*3298C=) c.*87C= (n.*87C=) n.3832C= c.3646C= (p.Pro1216=) c.3601C= (p.Pro1201=) c.3556C= (p.Pro1186=) c.3625C= (p.Pro1209=) c.3610C= (p.Pro1204=) c.3589C= (p.Pro1197=) c.3583C= (p.Pro1195=) c.3538C= (p.Pro1180=) c.3529C= (p.Pro1177=) c.3505C= (p.Pro1169=) c.3499C= (p.Pro1167=) c.3472C= (p.Pro1158=) c.3466C= (p.Pro1156=) c.3460C= (p.Pro1154=) c.3421C= (p.Pro1141=) c.3409C= (p.Pro1137=) c.3352C= (p.Pro1118=) c.3328C= (p.Pro1110=) c.3322C= (p.Pro1108=) c.3304C= (p.Pro1102=) c.3250C= (p.Pro1084=) c.2557C= (p.Pro853=) c.2470C= (p.Pro824=) n.3746C= | |
| 17 | g.39727784C>G | CA158663 | ERBB2 | c.3508C>G (p.Pro1170Ala) c.3418C>G (p.Pro1140Ala) c.2680C>G (p.Pro894Ala) c.3463C>G (p.Pro1155Ala) c.*3298C>G (n.*3298C>G) c.*87C>G (n.*87C>G) n.3832C>G c.3646C>G (p.Pro1216Ala) c.3601C>G (p.Pro1201Ala) c.3556C>G (p.Pro1186Ala) c.3625C>G (p.Pro1209Ala) c.3610C>G (p.Pro1204Ala) c.3589C>G (p.Pro1197Ala) c.3583C>G (p.Pro1195Ala) c.3538C>G (p.Pro1180Ala) c.3529C>G (p.Pro1177Ala) c.3505C>G (p.Pro1169Ala) c.3499C>G (p.Pro1167Ala) c.3472C>G (p.Pro1158Ala) c.3466C>G (p.Pro1156Ala) c.3460C>G (p.Pro1154Ala) c.3421C>G (p.Pro1141Ala) c.3409C>G (p.Pro1137Ala) c.3352C>G (p.Pro1118Ala) c.3328C>G (p.Pro1110Ala) c.3322C>G (p.Pro1108Ala) c.3304C>G (p.Pro1102Ala) c.3250C>G (p.Pro1084Ala) c.2557C>G (p.Pro853Ala) c.2470C>G (p.Pro824Ala) n.3746C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39727784C>T | CA399313203 | ERBB2 | c.3508C>T (p.Pro1170Ser) c.3418C>T (p.Pro1140Ser) c.2680C>T (p.Pro894Ser) c.3463C>T (p.Pro1155Ser) c.*3298C>T (n.*3298C>T) c.*87C>T (n.*87C>T) n.3832C>T c.3646C>T (p.Pro1216Ser) c.3601C>T (p.Pro1201Ser) c.3556C>T (p.Pro1186Ser) c.3625C>T (p.Pro1209Ser) c.3610C>T (p.Pro1204Ser) c.3589C>T (p.Pro1197Ser) c.3583C>T (p.Pro1195Ser) c.3538C>T (p.Pro1180Ser) c.3529C>T (p.Pro1177Ser) c.3505C>T (p.Pro1169Ser) c.3499C>T (p.Pro1167Ser) c.3472C>T (p.Pro1158Ser) c.3466C>T (p.Pro1156Ser) c.3460C>T (p.Pro1154Ser) c.3421C>T (p.Pro1141Ser) c.3409C>T (p.Pro1137Ser) c.3352C>T (p.Pro1118Ser) c.3328C>T (p.Pro1110Ser) c.3322C>T (p.Pro1108Ser) c.3304C>T (p.Pro1102Ser) c.3250C>T (p.Pro1084Ser) c.2557C>T (p.Pro853Ser) c.2470C>T (p.Pro824Ser) n.3746C>T | dbSNP |
| 17 | g.39727786del | CA919838704 | ERBB2 | c.3510del (p.Lys1171ArgfsTer27) c.3420del (p.Lys1141ArgfsTer27) c.2682del (p.Lys895ArgfsTer27) c.3465del (p.Lys1156ArgfsTer27) c.*3300del (n.*3300del) c.*89del (n.*89del) n.3834del c.3648del (p.Lys1217ArgfsTer27) c.3603del (p.Lys1202ArgfsTer27) c.3558del (p.Lys1187ArgfsTer27) c.3627del (p.Lys1210ArgfsTer27) c.3612del (p.Lys1205ArgfsTer27) c.3591del (p.Lys1198ArgfsTer27) c.3585del (p.Lys1196ArgfsTer27) c.3540del (p.Lys1181ArgfsTer27) c.3531del (p.Lys1178ArgfsTer27) c.3507del (p.Lys1170ArgfsTer27) c.3501del (p.Lys1168ArgfsTer27) c.3474del (p.Lys1159ArgfsTer27) c.3468del (p.Lys1157ArgfsTer27) c.3462del (p.Lys1155ArgfsTer27) c.3423del (p.Lys1142ArgfsTer27) c.3411del (p.Lys1138ArgfsTer27) c.3354del (p.Lys1119ArgfsTer27) c.3330del (p.Lys1111ArgfsTer27) c.3324del (p.Lys1109ArgfsTer27) c.3306del (p.Lys1103ArgfsTer27) c.3252del (p.Lys1085ArgfsTer27) c.2559del (p.Lys854ArgfsTer27) c.2472del (p.Lys825ArgfsTer27) n.3748del | dbSNP |
| 17 | g.39727785C>A | CA399313207 | ERBB2 | c.3509C>A (p.Pro1170His) c.3419C>A (p.Pro1140His) c.2681C>A (p.Pro894His) c.3464C>A (p.Pro1155His) c.*3299C>A (n.*3299C>A) c.*88C>A (n.*88C>A) n.3833C>A c.3647C>A (p.Pro1216His) c.3602C>A (p.Pro1201His) c.3557C>A (p.Pro1186His) c.3626C>A (p.Pro1209His) c.3611C>A (p.Pro1204His) c.3590C>A (p.Pro1197His) c.3584C>A (p.Pro1195His) c.3539C>A (p.Pro1180His) c.3530C>A (p.Pro1177His) c.3506C>A (p.Pro1169His) c.3500C>A (p.Pro1167His) c.3473C>A (p.Pro1158His) c.3467C>A (p.Pro1156His) c.3461C>A (p.Pro1154His) c.3422C>A (p.Pro1141His) c.3410C>A (p.Pro1137His) c.3353C>A (p.Pro1118His) c.3329C>A (p.Pro1110His) c.3323C>A (p.Pro1108His) c.3305C>A (p.Pro1102His) c.3251C>A (p.Pro1084His) c.2558C>A (p.Pro853His) c.2471C>A (p.Pro824His) n.3747C>A | dbSNP |
| 17 | g.39727785C>G | CA399313209 | ERBB2 | c.3509C>G (p.Pro1170Arg) c.3419C>G (p.Pro1140Arg) c.2681C>G (p.Pro894Arg) c.3464C>G (p.Pro1155Arg) c.*3299C>G (n.*3299C>G) c.*88C>G (n.*88C>G) n.3833C>G c.3647C>G (p.Pro1216Arg) c.3602C>G (p.Pro1201Arg) c.3557C>G (p.Pro1186Arg) c.3626C>G (p.Pro1209Arg) c.3611C>G (p.Pro1204Arg) c.3590C>G (p.Pro1197Arg) c.3584C>G (p.Pro1195Arg) c.3539C>G (p.Pro1180Arg) c.3530C>G (p.Pro1177Arg) c.3506C>G (p.Pro1169Arg) c.3500C>G (p.Pro1167Arg) c.3473C>G (p.Pro1158Arg) c.3467C>G (p.Pro1156Arg) c.3461C>G (p.Pro1154Arg) c.3422C>G (p.Pro1141Arg) c.3410C>G (p.Pro1137Arg) c.3353C>G (p.Pro1118Arg) c.3329C>G (p.Pro1110Arg) c.3323C>G (p.Pro1108Arg) c.3305C>G (p.Pro1102Arg) c.3251C>G (p.Pro1084Arg) c.2558C>G (p.Pro853Arg) c.2471C>G (p.Pro824Arg) n.3747C>G | dbSNP |
| 17 | g.39727785C>T | CA399313211 | ERBB2 | c.3509C>T (p.Pro1170Leu) c.3419C>T (p.Pro1140Leu) c.2681C>T (p.Pro894Leu) c.3464C>T (p.Pro1155Leu) c.*3299C>T (n.*3299C>T) c.*88C>T (n.*88C>T) n.3833C>T c.3647C>T (p.Pro1216Leu) c.3602C>T (p.Pro1201Leu) c.3557C>T (p.Pro1186Leu) c.3626C>T (p.Pro1209Leu) c.3611C>T (p.Pro1204Leu) c.3590C>T (p.Pro1197Leu) c.3584C>T (p.Pro1195Leu) c.3539C>T (p.Pro1180Leu) c.3530C>T (p.Pro1177Leu) c.3506C>T (p.Pro1169Leu) c.3500C>T (p.Pro1167Leu) c.3473C>T (p.Pro1158Leu) c.3467C>T (p.Pro1156Leu) c.3461C>T (p.Pro1154Leu) c.3422C>T (p.Pro1141Leu) c.3410C>T (p.Pro1137Leu) c.3353C>T (p.Pro1118Leu) c.3329C>T (p.Pro1110Leu) c.3323C>T (p.Pro1108Leu) c.3305C>T (p.Pro1102Leu) c.3251C>T (p.Pro1084Leu) c.2558C>T (p.Pro853Leu) c.2471C>T (p.Pro824Leu) n.3747C>T | dbSNP |
| 17 | g.39727786C>A | CA499890667 | ERBB2 | c.3510C>A (p.Pro1170=) c.3420C>A (p.Pro1140=) c.2682C>A (p.Pro894=) c.3465C>A (p.Pro1155=) c.*3300C>A (n.*3300C>A) c.*89C>A (n.*89C>A) n.3834C>A c.3648C>A (p.Pro1216=) c.3603C>A (p.Pro1201=) c.3558C>A (p.Pro1186=) c.3627C>A (p.Pro1209=) c.3612C>A (p.Pro1204=) c.3591C>A (p.Pro1197=) c.3585C>A (p.Pro1195=) c.3540C>A (p.Pro1180=) c.3531C>A (p.Pro1177=) c.3507C>A (p.Pro1169=) c.3501C>A (p.Pro1167=) c.3474C>A (p.Pro1158=) c.3468C>A (p.Pro1156=) c.3462C>A (p.Pro1154=) c.3423C>A (p.Pro1141=) c.3411C>A (p.Pro1137=) c.3354C>A (p.Pro1118=) c.3330C>A (p.Pro1110=) c.3324C>A (p.Pro1108=) c.3306C>A (p.Pro1102=) c.3252C>A (p.Pro1084=) c.2559C>A (p.Pro853=) c.2472C>A (p.Pro824=) n.3748C>A | dbSNP |
| 17 | g.39727786C>G | CA499890668 | ERBB2 | c.3510C>G (p.Pro1170=) c.3420C>G (p.Pro1140=) c.2682C>G (p.Pro894=) c.3465C>G (p.Pro1155=) c.*3300C>G (n.*3300C>G) c.*89C>G (n.*89C>G) n.3834C>G c.3648C>G (p.Pro1216=) c.3603C>G (p.Pro1201=) c.3558C>G (p.Pro1186=) c.3627C>G (p.Pro1209=) c.3612C>G (p.Pro1204=) c.3591C>G (p.Pro1197=) c.3585C>G (p.Pro1195=) c.3540C>G (p.Pro1180=) c.3531C>G (p.Pro1177=) c.3507C>G (p.Pro1169=) c.3501C>G (p.Pro1167=) c.3474C>G (p.Pro1158=) c.3468C>G (p.Pro1156=) c.3462C>G (p.Pro1154=) c.3423C>G (p.Pro1141=) c.3411C>G (p.Pro1137=) c.3354C>G (p.Pro1118=) c.3330C>G (p.Pro1110=) c.3324C>G (p.Pro1108=) c.3306C>G (p.Pro1102=) c.3252C>G (p.Pro1084=) c.2559C>G (p.Pro853=) c.2472C>G (p.Pro824=) n.3748C>G | dbSNP gnomAD v4 |
| 17 | g.39727786C>T | CA499890670 | ERBB2 | c.3510C>T (p.Pro1170=) c.3420C>T (p.Pro1140=) c.2682C>T (p.Pro894=) c.3465C>T (p.Pro1155=) c.*3300C>T (n.*3300C>T) c.*89C>T (n.*89C>T) n.3834C>T c.3648C>T (p.Pro1216=) c.3603C>T (p.Pro1201=) c.3558C>T (p.Pro1186=) c.3627C>T (p.Pro1209=) c.3612C>T (p.Pro1204=) c.3591C>T (p.Pro1197=) c.3585C>T (p.Pro1195=) c.3540C>T (p.Pro1180=) c.3531C>T (p.Pro1177=) c.3507C>T (p.Pro1169=) c.3501C>T (p.Pro1167=) c.3474C>T (p.Pro1158=) c.3468C>T (p.Pro1156=) c.3462C>T (p.Pro1154=) c.3423C>T (p.Pro1141=) c.3411C>T (p.Pro1137=) c.3354C>T (p.Pro1118=) c.3330C>T (p.Pro1110=) c.3324C>T (p.Pro1108=) c.3306C>T (p.Pro1102=) c.3252C>T (p.Pro1084=) c.2559C>T (p.Pro853=) c.2472C>T (p.Pro824=) n.3748C>T | dbSNP |
| 17 | g.39727787A>C | CA399313223 | ERBB2 | c.3511A>C (p.Lys1171Gln) c.3421A>C (p.Lys1141Gln) c.2683A>C (p.Lys895Gln) c.3466A>C (p.Lys1156Gln) c.*3301A>C (n.*3301A>C) c.*90A>C (n.*90A>C) n.3835A>C c.3649A>C (p.Lys1217Gln) c.3604A>C (p.Lys1202Gln) c.3559A>C (p.Lys1187Gln) c.3628A>C (p.Lys1210Gln) c.3613A>C (p.Lys1205Gln) c.3592A>C (p.Lys1198Gln) c.3586A>C (p.Lys1196Gln) c.3541A>C (p.Lys1181Gln) c.3532A>C (p.Lys1178Gln) c.3508A>C (p.Lys1170Gln) c.3502A>C (p.Lys1168Gln) c.3475A>C (p.Lys1159Gln) c.3469A>C (p.Lys1157Gln) c.3463A>C (p.Lys1155Gln) c.3424A>C (p.Lys1142Gln) c.3412A>C (p.Lys1138Gln) c.3355A>C (p.Lys1119Gln) c.3331A>C (p.Lys1111Gln) c.3325A>C (p.Lys1109Gln) c.3307A>C (p.Lys1103Gln) c.3253A>C (p.Lys1085Gln) c.2560A>C (p.Lys854Gln) c.2473A>C (p.Lys825Gln) n.3749A>C | dbSNP |
| 17 | g.39727787A>G | CA399313225 | ERBB2 | c.3511A>G (p.Lys1171Glu) c.3421A>G (p.Lys1141Glu) c.2683A>G (p.Lys895Glu) c.3466A>G (p.Lys1156Glu) c.*3301A>G (n.*3301A>G) c.*90A>G (n.*90A>G) n.3835A>G c.3649A>G (p.Lys1217Glu) c.3604A>G (p.Lys1202Glu) c.3559A>G (p.Lys1187Glu) c.3628A>G (p.Lys1210Glu) c.3613A>G (p.Lys1205Glu) c.3592A>G (p.Lys1198Glu) c.3586A>G (p.Lys1196Glu) c.3541A>G (p.Lys1181Glu) c.3532A>G (p.Lys1178Glu) c.3508A>G (p.Lys1170Glu) c.3502A>G (p.Lys1168Glu) c.3475A>G (p.Lys1159Glu) c.3469A>G (p.Lys1157Glu) c.3463A>G (p.Lys1155Glu) c.3424A>G (p.Lys1142Glu) c.3412A>G (p.Lys1138Glu) c.3355A>G (p.Lys1119Glu) c.3331A>G (p.Lys1111Glu) c.3325A>G (p.Lys1109Glu) c.3307A>G (p.Lys1103Glu) c.3253A>G (p.Lys1085Glu) c.2560A>G (p.Lys854Glu) c.2473A>G (p.Lys825Glu) n.3749A>G | dbSNP |
| 17 | g.39727787A>T | CA399313226 | ERBB2 | c.3511A>T (p.Lys1171Ter) c.3421A>T (p.Lys1141Ter) c.2683A>T (p.Lys895Ter) c.3466A>T (p.Lys1156Ter) c.*3301A>T (n.*3301A>T) c.*90A>T (n.*90A>T) n.3835A>T c.3649A>T (p.Lys1217Ter) c.3604A>T (p.Lys1202Ter) c.3559A>T (p.Lys1187Ter) c.3628A>T (p.Lys1210Ter) c.3613A>T (p.Lys1205Ter) c.3592A>T (p.Lys1198Ter) c.3586A>T (p.Lys1196Ter) c.3541A>T (p.Lys1181Ter) c.3532A>T (p.Lys1178Ter) c.3508A>T (p.Lys1170Ter) c.3502A>T (p.Lys1168Ter) c.3475A>T (p.Lys1159Ter) c.3469A>T (p.Lys1157Ter) c.3463A>T (p.Lys1155Ter) c.3424A>T (p.Lys1142Ter) c.3412A>T (p.Lys1138Ter) c.3355A>T (p.Lys1119Ter) c.3331A>T (p.Lys1111Ter) c.3325A>T (p.Lys1109Ter) c.3307A>T (p.Lys1103Ter) c.3253A>T (p.Lys1085Ter) c.2560A>T (p.Lys854Ter) c.2473A>T (p.Lys825Ter) n.3749A>T | dbSNP |
| 17 | g.39727788A= | CA2259229261 | ERBB2 | c.3512A= (p.Lys1171=) c.3422A= (p.Lys1141=) c.2684A= (p.Lys895=) c.3467A= (p.Lys1156=) c.*3302A= (n.*3302A=) c.*91A= (n.*91A=) n.3836A= c.3650A= (p.Lys1217=) c.3605A= (p.Lys1202=) c.3560A= (p.Lys1187=) c.3629A= (p.Lys1210=) c.3614A= (p.Lys1205=) c.3593A= (p.Lys1198=) c.3587A= (p.Lys1196=) c.3542A= (p.Lys1181=) c.3533A= (p.Lys1178=) c.3509A= (p.Lys1170=) c.3503A= (p.Lys1168=) c.3476A= (p.Lys1159=) c.3470A= (p.Lys1157=) c.3464A= (p.Lys1155=) c.3425A= (p.Lys1142=) c.3413A= (p.Lys1138=) c.3356A= (p.Lys1119=) c.3332A= (p.Lys1111=) c.3326A= (p.Lys1109=) c.3308A= (p.Lys1103=) c.3254A= (p.Lys1085=) c.2561A= (p.Lys854=) c.2474A= (p.Lys825=) n.3750A= | |
| 17 | g.39727788A>C | CA399313228 | ERBB2 | c.3512A>C (p.Lys1171Thr) c.3422A>C (p.Lys1141Thr) c.2684A>C (p.Lys895Thr) c.3467A>C (p.Lys1156Thr) c.*3302A>C (n.*3302A>C) c.*91A>C (n.*91A>C) n.3836A>C c.3650A>C (p.Lys1217Thr) c.3605A>C (p.Lys1202Thr) c.3560A>C (p.Lys1187Thr) c.3629A>C (p.Lys1210Thr) c.3614A>C (p.Lys1205Thr) c.3593A>C (p.Lys1198Thr) c.3587A>C (p.Lys1196Thr) c.3542A>C (p.Lys1181Thr) c.3533A>C (p.Lys1178Thr) c.3509A>C (p.Lys1170Thr) c.3503A>C (p.Lys1168Thr) c.3476A>C (p.Lys1159Thr) c.3470A>C (p.Lys1157Thr) c.3464A>C (p.Lys1155Thr) c.3425A>C (p.Lys1142Thr) c.3413A>C (p.Lys1138Thr) c.3356A>C (p.Lys1119Thr) c.3332A>C (p.Lys1111Thr) c.3326A>C (p.Lys1109Thr) c.3308A>C (p.Lys1103Thr) c.3254A>C (p.Lys1085Thr) c.2561A>C (p.Lys854Thr) c.2474A>C (p.Lys825Thr) n.3750A>C | |
| 17 | g.39727788A>G | CA399313231 | ERBB2 | c.3512A>G (p.Lys1171Arg) c.3422A>G (p.Lys1141Arg) c.2684A>G (p.Lys895Arg) c.3467A>G (p.Lys1156Arg) c.*3302A>G (n.*3302A>G) c.*91A>G (n.*91A>G) n.3836A>G c.3650A>G (p.Lys1217Arg) c.3605A>G (p.Lys1202Arg) c.3560A>G (p.Lys1187Arg) c.3629A>G (p.Lys1210Arg) c.3614A>G (p.Lys1205Arg) c.3593A>G (p.Lys1198Arg) c.3587A>G (p.Lys1196Arg) c.3542A>G (p.Lys1181Arg) c.3533A>G (p.Lys1178Arg) c.3509A>G (p.Lys1170Arg) c.3503A>G (p.Lys1168Arg) c.3476A>G (p.Lys1159Arg) c.3470A>G (p.Lys1157Arg) c.3464A>G (p.Lys1155Arg) c.3425A>G (p.Lys1142Arg) c.3413A>G (p.Lys1138Arg) c.3356A>G (p.Lys1119Arg) c.3332A>G (p.Lys1111Arg) c.3326A>G (p.Lys1109Arg) c.3308A>G (p.Lys1103Arg) c.3254A>G (p.Lys1085Arg) c.2561A>G (p.Lys854Arg) c.2474A>G (p.Lys825Arg) n.3750A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39727788A>T | CA399313234 | ERBB2 | c.3512A>T (p.Lys1171Met) c.3422A>T (p.Lys1141Met) c.2684A>T (p.Lys895Met) c.3467A>T (p.Lys1156Met) c.*3302A>T (n.*3302A>T) c.*91A>T (n.*91A>T) n.3836A>T c.3650A>T (p.Lys1217Met) c.3605A>T (p.Lys1202Met) c.3560A>T (p.Lys1187Met) c.3629A>T (p.Lys1210Met) c.3614A>T (p.Lys1205Met) c.3593A>T (p.Lys1198Met) c.3587A>T (p.Lys1196Met) c.3542A>T (p.Lys1181Met) c.3533A>T (p.Lys1178Met) c.3509A>T (p.Lys1170Met) c.3503A>T (p.Lys1168Met) c.3476A>T (p.Lys1159Met) c.3470A>T (p.Lys1157Met) c.3464A>T (p.Lys1155Met) c.3425A>T (p.Lys1142Met) c.3413A>T (p.Lys1138Met) c.3356A>T (p.Lys1119Met) c.3332A>T (p.Lys1111Met) c.3326A>T (p.Lys1109Met) c.3308A>T (p.Lys1103Met) c.3254A>T (p.Lys1085Met) c.2561A>T (p.Lys854Met) c.2474A>T (p.Lys825Met) n.3750A>T | dbSNP COSMIC |
| 17 | g.39727789G>A | CA499890673 | ERBB2 | c.3513G>A (p.Lys1171=) c.3423G>A (p.Lys1141=) c.2685G>A (p.Lys895=) c.3468G>A (p.Lys1156=) c.*3303G>A (n.*3303G>A) c.*92G>A (n.*92G>A) n.3837G>A c.3651G>A (p.Lys1217=) c.3606G>A (p.Lys1202=) c.3561G>A (p.Lys1187=) c.3630G>A (p.Lys1210=) c.3615G>A (p.Lys1205=) c.3594G>A (p.Lys1198=) c.3588G>A (p.Lys1196=) c.3543G>A (p.Lys1181=) c.3534G>A (p.Lys1178=) c.3510G>A (p.Lys1170=) c.3504G>A (p.Lys1168=) c.3477G>A (p.Lys1159=) c.3471G>A (p.Lys1157=) c.3465G>A (p.Lys1155=) c.3426G>A (p.Lys1142=) c.3414G>A (p.Lys1138=) c.3357G>A (p.Lys1119=) c.3333G>A (p.Lys1111=) c.3327G>A (p.Lys1109=) c.3309G>A (p.Lys1103=) c.3255G>A (p.Lys1085=) c.2562G>A (p.Lys854=) c.2475G>A (p.Lys825=) n.3751G>A | dbSNP |
| 17 | g.39727789G>C | CA399313237 | ERBB2 | c.3513G>C (p.Lys1171Asn) c.3423G>C (p.Lys1141Asn) c.2685G>C (p.Lys895Asn) c.3468G>C (p.Lys1156Asn) c.*3303G>C (n.*3303G>C) c.*92G>C (n.*92G>C) n.3837G>C c.3651G>C (p.Lys1217Asn) c.3606G>C (p.Lys1202Asn) c.3561G>C (p.Lys1187Asn) c.3630G>C (p.Lys1210Asn) c.3615G>C (p.Lys1205Asn) c.3594G>C (p.Lys1198Asn) c.3588G>C (p.Lys1196Asn) c.3543G>C (p.Lys1181Asn) c.3534G>C (p.Lys1178Asn) c.3510G>C (p.Lys1170Asn) c.3504G>C (p.Lys1168Asn) c.3477G>C (p.Lys1159Asn) c.3471G>C (p.Lys1157Asn) c.3465G>C (p.Lys1155Asn) c.3426G>C (p.Lys1142Asn) c.3414G>C (p.Lys1138Asn) c.3357G>C (p.Lys1119Asn) c.3333G>C (p.Lys1111Asn) c.3327G>C (p.Lys1109Asn) c.3309G>C (p.Lys1103Asn) c.3255G>C (p.Lys1085Asn) c.2562G>C (p.Lys854Asn) c.2475G>C (p.Lys825Asn) n.3751G>C | dbSNP |
| 17 | g.39727789G>T | CA399313235 | ERBB2 | c.3513G>T (p.Lys1171Asn) c.3423G>T (p.Lys1141Asn) c.2685G>T (p.Lys895Asn) c.3468G>T (p.Lys1156Asn) c.*3303G>T (n.*3303G>T) c.*92G>T (n.*92G>T) n.3837G>T c.3651G>T (p.Lys1217Asn) c.3606G>T (p.Lys1202Asn) c.3561G>T (p.Lys1187Asn) c.3630G>T (p.Lys1210Asn) c.3615G>T (p.Lys1205Asn) c.3594G>T (p.Lys1198Asn) c.3588G>T (p.Lys1196Asn) c.3543G>T (p.Lys1181Asn) c.3534G>T (p.Lys1178Asn) c.3510G>T (p.Lys1170Asn) c.3504G>T (p.Lys1168Asn) c.3477G>T (p.Lys1159Asn) c.3471G>T (p.Lys1157Asn) c.3465G>T (p.Lys1155Asn) c.3426G>T (p.Lys1142Asn) c.3414G>T (p.Lys1138Asn) c.3357G>T (p.Lys1119Asn) c.3333G>T (p.Lys1111Asn) c.3327G>T (p.Lys1109Asn) c.3309G>T (p.Lys1103Asn) c.3255G>T (p.Lys1085Asn) c.2562G>T (p.Lys854Asn) c.2475G>T (p.Lys825Asn) n.3751G>T | dbSNP |
| 17 | g.39727790A>C | CA399313239 | ERBB2 | c.3514A>C (p.Thr1172Pro) c.3424A>C (p.Thr1142Pro) c.2686A>C (p.Thr896Pro) c.3469A>C (p.Thr1157Pro) c.*3304A>C (n.*3304A>C) c.*93A>C (n.*93A>C) n.3838A>C c.3652A>C (p.Thr1218Pro) c.3607A>C (p.Thr1203Pro) c.3562A>C (p.Thr1188Pro) c.3631A>C (p.Thr1211Pro) c.3616A>C (p.Thr1206Pro) c.3595A>C (p.Thr1199Pro) c.3589A>C (p.Thr1197Pro) c.3544A>C (p.Thr1182Pro) c.3535A>C (p.Thr1179Pro) c.3511A>C (p.Thr1171Pro) c.3505A>C (p.Thr1169Pro) c.3478A>C (p.Thr1160Pro) c.3472A>C (p.Thr1158Pro) c.3466A>C (p.Thr1156Pro) c.3427A>C (p.Thr1143Pro) c.3415A>C (p.Thr1139Pro) c.3358A>C (p.Thr1120Pro) c.3334A>C (p.Thr1112Pro) c.3328A>C (p.Thr1110Pro) c.3310A>C (p.Thr1104Pro) c.3256A>C (p.Thr1086Pro) c.2563A>C (p.Thr855Pro) c.2476A>C (p.Thr826Pro) n.3752A>C | dbSNP |
| 17 | g.39727790A>G | CA399313241 | ERBB2 | c.3514A>G (p.Thr1172Ala) c.3424A>G (p.Thr1142Ala) c.2686A>G (p.Thr896Ala) c.3469A>G (p.Thr1157Ala) c.*3304A>G (n.*3304A>G) c.*93A>G (n.*93A>G) n.3838A>G c.3652A>G (p.Thr1218Ala) c.3607A>G (p.Thr1203Ala) c.3562A>G (p.Thr1188Ala) c.3631A>G (p.Thr1211Ala) c.3616A>G (p.Thr1206Ala) c.3595A>G (p.Thr1199Ala) c.3589A>G (p.Thr1197Ala) c.3544A>G (p.Thr1182Ala) c.3535A>G (p.Thr1179Ala) c.3511A>G (p.Thr1171Ala) c.3505A>G (p.Thr1169Ala) c.3478A>G (p.Thr1160Ala) c.3472A>G (p.Thr1158Ala) c.3466A>G (p.Thr1156Ala) c.3427A>G (p.Thr1143Ala) c.3415A>G (p.Thr1139Ala) c.3358A>G (p.Thr1120Ala) c.3334A>G (p.Thr1112Ala) c.3328A>G (p.Thr1110Ala) c.3310A>G (p.Thr1104Ala) c.3256A>G (p.Thr1086Ala) c.2563A>G (p.Thr855Ala) c.2476A>G (p.Thr826Ala) n.3752A>G | dbSNP |
| 17 | g.39727790A>T | CA399313243 | ERBB2 | c.3514A>T (p.Thr1172Ser) c.3424A>T (p.Thr1142Ser) c.2686A>T (p.Thr896Ser) c.3469A>T (p.Thr1157Ser) c.*3304A>T (n.*3304A>T) c.*93A>T (n.*93A>T) n.3838A>T c.3652A>T (p.Thr1218Ser) c.3607A>T (p.Thr1203Ser) c.3562A>T (p.Thr1188Ser) c.3631A>T (p.Thr1211Ser) c.3616A>T (p.Thr1206Ser) c.3595A>T (p.Thr1199Ser) c.3589A>T (p.Thr1197Ser) c.3544A>T (p.Thr1182Ser) c.3535A>T (p.Thr1179Ser) c.3511A>T (p.Thr1171Ser) c.3505A>T (p.Thr1169Ser) c.3478A>T (p.Thr1160Ser) c.3472A>T (p.Thr1158Ser) c.3466A>T (p.Thr1156Ser) c.3427A>T (p.Thr1143Ser) c.3415A>T (p.Thr1139Ser) c.3358A>T (p.Thr1120Ser) c.3334A>T (p.Thr1112Ser) c.3328A>T (p.Thr1110Ser) c.3310A>T (p.Thr1104Ser) c.3256A>T (p.Thr1086Ser) c.2563A>T (p.Thr855Ser) c.2476A>T (p.Thr826Ser) n.3752A>T | |
| 17 | g.39727791C>A | CA399313247 | ERBB2 | c.3515C>A (p.Thr1172Asn) c.3425C>A (p.Thr1142Asn) c.2687C>A (p.Thr896Asn) c.3470C>A (p.Thr1157Asn) c.*3305C>A (n.*3305C>A) c.*94C>A (n.*94C>A) n.3839C>A c.3653C>A (p.Thr1218Asn) c.3608C>A (p.Thr1203Asn) c.3563C>A (p.Thr1188Asn) c.3632C>A (p.Thr1211Asn) c.3617C>A (p.Thr1206Asn) c.3596C>A (p.Thr1199Asn) c.3590C>A (p.Thr1197Asn) c.3545C>A (p.Thr1182Asn) c.3536C>A (p.Thr1179Asn) c.3512C>A (p.Thr1171Asn) c.3506C>A (p.Thr1169Asn) c.3479C>A (p.Thr1160Asn) c.3473C>A (p.Thr1158Asn) c.3467C>A (p.Thr1156Asn) c.3428C>A (p.Thr1143Asn) c.3416C>A (p.Thr1139Asn) c.3359C>A (p.Thr1120Asn) c.3335C>A (p.Thr1112Asn) c.3329C>A (p.Thr1110Asn) c.3311C>A (p.Thr1104Asn) c.3257C>A (p.Thr1086Asn) c.2564C>A (p.Thr855Asn) c.2477C>A (p.Thr826Asn) n.3753C>A | dbSNP |
| 17 | g.39727791C>G | CA399313254 | ERBB2 | c.3515C>G (p.Thr1172Ser) c.3425C>G (p.Thr1142Ser) c.2687C>G (p.Thr896Ser) c.3470C>G (p.Thr1157Ser) c.*3305C>G (n.*3305C>G) c.*94C>G (n.*94C>G) n.3839C>G c.3653C>G (p.Thr1218Ser) c.3608C>G (p.Thr1203Ser) c.3563C>G (p.Thr1188Ser) c.3632C>G (p.Thr1211Ser) c.3617C>G (p.Thr1206Ser) c.3596C>G (p.Thr1199Ser) c.3590C>G (p.Thr1197Ser) c.3545C>G (p.Thr1182Ser) c.3536C>G (p.Thr1179Ser) c.3512C>G (p.Thr1171Ser) c.3506C>G (p.Thr1169Ser) c.3479C>G (p.Thr1160Ser) c.3473C>G (p.Thr1158Ser) c.3467C>G (p.Thr1156Ser) c.3428C>G (p.Thr1143Ser) c.3416C>G (p.Thr1139Ser) c.3359C>G (p.Thr1120Ser) c.3335C>G (p.Thr1112Ser) c.3329C>G (p.Thr1110Ser) c.3311C>G (p.Thr1104Ser) c.3257C>G (p.Thr1086Ser) c.2564C>G (p.Thr855Ser) c.2477C>G (p.Thr826Ser) n.3753C>G | dbSNP |
| 17 | g.39727791C>T | CA399313256 | ERBB2 | c.3515C>T (p.Thr1172Ile) c.3425C>T (p.Thr1142Ile) c.2687C>T (p.Thr896Ile) c.3470C>T (p.Thr1157Ile) c.*3305C>T (n.*3305C>T) c.*94C>T (n.*94C>T) n.3839C>T c.3653C>T (p.Thr1218Ile) c.3608C>T (p.Thr1203Ile) c.3563C>T (p.Thr1188Ile) c.3632C>T (p.Thr1211Ile) c.3617C>T (p.Thr1206Ile) c.3596C>T (p.Thr1199Ile) c.3590C>T (p.Thr1197Ile) c.3545C>T (p.Thr1182Ile) c.3536C>T (p.Thr1179Ile) c.3512C>T (p.Thr1171Ile) c.3506C>T (p.Thr1169Ile) c.3479C>T (p.Thr1160Ile) c.3473C>T (p.Thr1158Ile) c.3467C>T (p.Thr1156Ile) c.3428C>T (p.Thr1143Ile) c.3416C>T (p.Thr1139Ile) c.3359C>T (p.Thr1120Ile) c.3335C>T (p.Thr1112Ile) c.3329C>T (p.Thr1110Ile) c.3311C>T (p.Thr1104Ile) c.3257C>T (p.Thr1086Ile) c.2564C>T (p.Thr855Ile) c.2477C>T (p.Thr826Ile) n.3753C>T | dbSNP |
| 17 | g.39727796_39727797del | CA2637630211 | ERBB2 | c.3520_3521del (p.Ser1174ProfsTer?) c.3430_3431del (p.Ser1144ProfsTer?) c.2692_2693del (p.Ser898ProfsTer?) c.3475_3476del (p.Ser1159ProfsTer?) c.*3310_*3311del (n.*3310_*3311del) c.*99_*100del (n.*99_*100del) n.3844_3845del c.3658_3659del (p.Ser1220ProfsTer?) c.3613_3614del (p.Ser1205ProfsTer?) c.3568_3569del (p.Ser1190ProfsTer?) c.3637_3638del (p.Ser1213ProfsTer?) c.3622_3623del (p.Ser1208ProfsTer?) c.3601_3602del (p.Ser1201ProfsTer?) c.3595_3596del (p.Ser1199ProfsTer?) c.3550_3551del (p.Ser1184ProfsTer?) c.3541_3542del (p.Ser1181ProfsTer?) c.3517_3518del (p.Ser1173ProfsTer?) c.3511_3512del (p.Ser1171ProfsTer?) c.3484_3485del (p.Ser1162ProfsTer?) c.3478_3479del (p.Ser1160ProfsTer?) c.3472_3473del (p.Ser1158ProfsTer?) c.3433_3434del (p.Ser1145ProfsTer?) c.3421_3422del (p.Ser1141ProfsTer?) c.3364_3365del (p.Ser1122ProfsTer?) c.3340_3341del (p.Ser1114ProfsTer?) c.3334_3335del (p.Ser1112ProfsTer?) c.3316_3317del (p.Ser1106ProfsTer?) c.3262_3263del (p.Ser1088ProfsTer?) c.2569_2570del (p.Ser857ProfsTer?) c.2482_2483del (p.Ser828ProfsTer?) n.3758_3759del | gnomAD v4 |
| 17 | g.39727792T>A | CA499890680 | ERBB2 | c.3516T>A (p.Thr1172=) c.3426T>A (p.Thr1142=) c.2688T>A (p.Thr896=) c.3471T>A (p.Thr1157=) c.*3306T>A (n.*3306T>A) c.*95T>A (n.*95T>A) n.3840T>A c.3654T>A (p.Thr1218=) c.3609T>A (p.Thr1203=) c.3564T>A (p.Thr1188=) c.3633T>A (p.Thr1211=) c.3618T>A (p.Thr1206=) c.3597T>A (p.Thr1199=) c.3591T>A (p.Thr1197=) c.3546T>A (p.Thr1182=) c.3537T>A (p.Thr1179=) c.3513T>A (p.Thr1171=) c.3507T>A (p.Thr1169=) c.3480T>A (p.Thr1160=) c.3474T>A (p.Thr1158=) c.3468T>A (p.Thr1156=) c.3429T>A (p.Thr1143=) c.3417T>A (p.Thr1139=) c.3360T>A (p.Thr1120=) c.3336T>A (p.Thr1112=) c.3330T>A (p.Thr1110=) c.3312T>A (p.Thr1104=) c.3258T>A (p.Thr1086=) c.2565T>A (p.Thr855=) c.2478T>A (p.Thr826=) n.3754T>A | |
| 17 | g.39727792T>C | CA499890682 | ERBB2 | c.3516T>C (p.Thr1172=) c.3426T>C (p.Thr1142=) c.2688T>C (p.Thr896=) c.3471T>C (p.Thr1157=) c.*3306T>C (n.*3306T>C) c.*95T>C (n.*95T>C) n.3840T>C c.3654T>C (p.Thr1218=) c.3609T>C (p.Thr1203=) c.3564T>C (p.Thr1188=) c.3633T>C (p.Thr1211=) c.3618T>C (p.Thr1206=) c.3597T>C (p.Thr1199=) c.3591T>C (p.Thr1197=) c.3546T>C (p.Thr1182=) c.3537T>C (p.Thr1179=) c.3513T>C (p.Thr1171=) c.3507T>C (p.Thr1169=) c.3480T>C (p.Thr1160=) c.3474T>C (p.Thr1158=) c.3468T>C (p.Thr1156=) c.3429T>C (p.Thr1143=) c.3417T>C (p.Thr1139=) c.3360T>C (p.Thr1120=) c.3336T>C (p.Thr1112=) c.3330T>C (p.Thr1110=) c.3312T>C (p.Thr1104=) c.3258T>C (p.Thr1086=) c.2565T>C (p.Thr855=) c.2478T>C (p.Thr826=) n.3754T>C | |
| 17 | g.39727792T>G | CA499890684 | ERBB2 | c.3516T>G (p.Thr1172=) c.3426T>G (p.Thr1142=) c.2688T>G (p.Thr896=) c.3471T>G (p.Thr1157=) c.*3306T>G (n.*3306T>G) c.*95T>G (n.*95T>G) n.3840T>G c.3654T>G (p.Thr1218=) c.3609T>G (p.Thr1203=) c.3564T>G (p.Thr1188=) c.3633T>G (p.Thr1211=) c.3618T>G (p.Thr1206=) c.3597T>G (p.Thr1199=) c.3591T>G (p.Thr1197=) c.3546T>G (p.Thr1182=) c.3537T>G (p.Thr1179=) c.3513T>G (p.Thr1171=) c.3507T>G (p.Thr1169=) c.3480T>G (p.Thr1160=) c.3474T>G (p.Thr1158=) c.3468T>G (p.Thr1156=) c.3429T>G (p.Thr1143=) c.3417T>G (p.Thr1139=) c.3360T>G (p.Thr1120=) c.3336T>G (p.Thr1112=) c.3330T>G (p.Thr1110=) c.3312T>G (p.Thr1104=) c.3258T>G (p.Thr1086=) c.2565T>G (p.Thr855=) c.2478T>G (p.Thr826=) n.3754T>G | gnomAD v3 gnomAD v4 |
| 17 | g.39727793C>A | CA399313261 | ERBB2 | c.3517C>A (p.Leu1173Ile) c.3427C>A (p.Leu1143Ile) c.2689C>A (p.Leu897Ile) c.3472C>A (p.Leu1158Ile) c.*3307C>A (n.*3307C>A) c.*96C>A (n.*96C>A) n.3841C>A c.3655C>A (p.Leu1219Ile) c.3610C>A (p.Leu1204Ile) c.3565C>A (p.Leu1189Ile) c.3634C>A (p.Leu1212Ile) c.3619C>A (p.Leu1207Ile) c.3598C>A (p.Leu1200Ile) c.3592C>A (p.Leu1198Ile) c.3547C>A (p.Leu1183Ile) c.3538C>A (p.Leu1180Ile) c.3514C>A (p.Leu1172Ile) c.3508C>A (p.Leu1170Ile) c.3481C>A (p.Leu1161Ile) c.3475C>A (p.Leu1159Ile) c.3469C>A (p.Leu1157Ile) c.3430C>A (p.Leu1144Ile) c.3418C>A (p.Leu1140Ile) c.3361C>A (p.Leu1121Ile) c.3337C>A (p.Leu1113Ile) c.3331C>A (p.Leu1111Ile) c.3313C>A (p.Leu1105Ile) c.3259C>A (p.Leu1087Ile) c.2566C>A (p.Leu856Ile) c.2479C>A (p.Leu827Ile) n.3755C>A | |
| 17 | g.39727793C= | CA2259229262 | ERBB2 | c.3517C= (p.Leu1173=) c.3427C= (p.Leu1143=) c.2689C= (p.Leu897=) c.3472C= (p.Leu1158=) c.*3307C= (n.*3307C=) c.*96C= (n.*96C=) n.3841C= c.3655C= (p.Leu1219=) c.3610C= (p.Leu1204=) c.3565C= (p.Leu1189=) c.3634C= (p.Leu1212=) c.3619C= (p.Leu1207=) c.3598C= (p.Leu1200=) c.3592C= (p.Leu1198=) c.3547C= (p.Leu1183=) c.3538C= (p.Leu1180=) c.3514C= (p.Leu1172=) c.3508C= (p.Leu1170=) c.3481C= (p.Leu1161=) c.3475C= (p.Leu1159=) c.3469C= (p.Leu1157=) c.3430C= (p.Leu1144=) c.3418C= (p.Leu1140=) c.3361C= (p.Leu1121=) c.3337C= (p.Leu1113=) c.3331C= (p.Leu1111=) c.3313C= (p.Leu1105=) c.3259C= (p.Leu1087=) c.2566C= (p.Leu856=) c.2479C= (p.Leu827=) n.3755C= | |
| 17 | g.39727793C>G | CA399313263 | ERBB2 | c.3517C>G (p.Leu1173Val) c.3427C>G (p.Leu1143Val) c.2689C>G (p.Leu897Val) c.3472C>G (p.Leu1158Val) c.*3307C>G (n.*3307C>G) c.*96C>G (n.*96C>G) n.3841C>G c.3655C>G (p.Leu1219Val) c.3610C>G (p.Leu1204Val) c.3565C>G (p.Leu1189Val) c.3634C>G (p.Leu1212Val) c.3619C>G (p.Leu1207Val) c.3598C>G (p.Leu1200Val) c.3592C>G (p.Leu1198Val) c.3547C>G (p.Leu1183Val) c.3538C>G (p.Leu1180Val) c.3514C>G (p.Leu1172Val) c.3508C>G (p.Leu1170Val) c.3481C>G (p.Leu1161Val) c.3475C>G (p.Leu1159Val) c.3469C>G (p.Leu1157Val) c.3430C>G (p.Leu1144Val) c.3418C>G (p.Leu1140Val) c.3361C>G (p.Leu1121Val) c.3337C>G (p.Leu1113Val) c.3331C>G (p.Leu1111Val) c.3313C>G (p.Leu1105Val) c.3259C>G (p.Leu1087Val) c.2566C>G (p.Leu856Val) c.2479C>G (p.Leu827Val) n.3755C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39727793C>T | CA399313266 | ERBB2 | c.3517C>T (p.Leu1173Phe) c.3427C>T (p.Leu1143Phe) c.2689C>T (p.Leu897Phe) c.3472C>T (p.Leu1158Phe) c.*3307C>T (n.*3307C>T) c.*96C>T (n.*96C>T) n.3841C>T c.3655C>T (p.Leu1219Phe) c.3610C>T (p.Leu1204Phe) c.3565C>T (p.Leu1189Phe) c.3634C>T (p.Leu1212Phe) c.3619C>T (p.Leu1207Phe) c.3598C>T (p.Leu1200Phe) c.3592C>T (p.Leu1198Phe) c.3547C>T (p.Leu1183Phe) c.3538C>T (p.Leu1180Phe) c.3514C>T (p.Leu1172Phe) c.3508C>T (p.Leu1170Phe) c.3481C>T (p.Leu1161Phe) c.3475C>T (p.Leu1159Phe) c.3469C>T (p.Leu1157Phe) c.3430C>T (p.Leu1144Phe) c.3418C>T (p.Leu1140Phe) c.3361C>T (p.Leu1121Phe) c.3337C>T (p.Leu1113Phe) c.3331C>T (p.Leu1111Phe) c.3313C>T (p.Leu1105Phe) c.3259C>T (p.Leu1087Phe) c.2566C>T (p.Leu856Phe) c.2479C>T (p.Leu827Phe) n.3755C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39727794T>A | CA399313270 | ERBB2 | c.3518T>A (p.Leu1173His) c.3428T>A (p.Leu1143His) c.2690T>A (p.Leu897His) c.3473T>A (p.Leu1158His) c.*3308T>A (n.*3308T>A) c.*97T>A (n.*97T>A) n.3842T>A c.3656T>A (p.Leu1219His) c.3611T>A (p.Leu1204His) c.3566T>A (p.Leu1189His) c.3635T>A (p.Leu1212His) c.3620T>A (p.Leu1207His) c.3599T>A (p.Leu1200His) c.3593T>A (p.Leu1198His) c.3548T>A (p.Leu1183His) c.3539T>A (p.Leu1180His) c.3515T>A (p.Leu1172His) c.3509T>A (p.Leu1170His) c.3482T>A (p.Leu1161His) c.3476T>A (p.Leu1159His) c.3470T>A (p.Leu1157His) c.3431T>A (p.Leu1144His) c.3419T>A (p.Leu1140His) c.3362T>A (p.Leu1121His) c.3338T>A (p.Leu1113His) c.3332T>A (p.Leu1111His) c.3314T>A (p.Leu1105His) c.3260T>A (p.Leu1087His) c.2567T>A (p.Leu856His) c.2480T>A (p.Leu827His) n.3756T>A | dbSNP |
| 17 | g.39727794T>C | CA399313273 | ERBB2 | c.3518T>C (p.Leu1173Pro) c.3428T>C (p.Leu1143Pro) c.2690T>C (p.Leu897Pro) c.3473T>C (p.Leu1158Pro) c.*3308T>C (n.*3308T>C) c.*97T>C (n.*97T>C) n.3842T>C c.3656T>C (p.Leu1219Pro) c.3611T>C (p.Leu1204Pro) c.3566T>C (p.Leu1189Pro) c.3635T>C (p.Leu1212Pro) c.3620T>C (p.Leu1207Pro) c.3599T>C (p.Leu1200Pro) c.3593T>C (p.Leu1198Pro) c.3548T>C (p.Leu1183Pro) c.3539T>C (p.Leu1180Pro) c.3515T>C (p.Leu1172Pro) c.3509T>C (p.Leu1170Pro) c.3482T>C (p.Leu1161Pro) c.3476T>C (p.Leu1159Pro) c.3470T>C (p.Leu1157Pro) c.3431T>C (p.Leu1144Pro) c.3419T>C (p.Leu1140Pro) c.3362T>C (p.Leu1121Pro) c.3338T>C (p.Leu1113Pro) c.3332T>C (p.Leu1111Pro) c.3314T>C (p.Leu1105Pro) c.3260T>C (p.Leu1087Pro) c.2567T>C (p.Leu856Pro) c.2480T>C (p.Leu827Pro) n.3756T>C | dbSNP COSMIC |
| 17 | g.39727794T>G | CA399313277 | ERBB2 | c.3518T>G (p.Leu1173Arg) c.3428T>G (p.Leu1143Arg) c.2690T>G (p.Leu897Arg) c.3473T>G (p.Leu1158Arg) c.*3308T>G (n.*3308T>G) c.*97T>G (n.*97T>G) n.3842T>G c.3656T>G (p.Leu1219Arg) c.3611T>G (p.Leu1204Arg) c.3566T>G (p.Leu1189Arg) c.3635T>G (p.Leu1212Arg) c.3620T>G (p.Leu1207Arg) c.3599T>G (p.Leu1200Arg) c.3593T>G (p.Leu1198Arg) c.3548T>G (p.Leu1183Arg) c.3539T>G (p.Leu1180Arg) c.3515T>G (p.Leu1172Arg) c.3509T>G (p.Leu1170Arg) c.3482T>G (p.Leu1161Arg) c.3476T>G (p.Leu1159Arg) c.3470T>G (p.Leu1157Arg) c.3431T>G (p.Leu1144Arg) c.3419T>G (p.Leu1140Arg) c.3362T>G (p.Leu1121Arg) c.3338T>G (p.Leu1113Arg) c.3332T>G (p.Leu1111Arg) c.3314T>G (p.Leu1105Arg) c.3260T>G (p.Leu1087Arg) c.2567T>G (p.Leu856Arg) c.2480T>G (p.Leu827Arg) n.3756T>G | |
| 17 | g.39727795C>A | CA499890686 | ERBB2 | c.3519C>A (p.Leu1173=) c.3429C>A (p.Leu1143=) c.2691C>A (p.Leu897=) c.3474C>A (p.Leu1158=) c.*3309C>A (n.*3309C>A) c.*98C>A (n.*98C>A) n.3843C>A c.3657C>A (p.Leu1219=) c.3612C>A (p.Leu1204=) c.3567C>A (p.Leu1189=) c.3636C>A (p.Leu1212=) c.3621C>A (p.Leu1207=) c.3600C>A (p.Leu1200=) c.3594C>A (p.Leu1198=) c.3549C>A (p.Leu1183=) c.3540C>A (p.Leu1180=) c.3516C>A (p.Leu1172=) c.3510C>A (p.Leu1170=) c.3483C>A (p.Leu1161=) c.3477C>A (p.Leu1159=) c.3471C>A (p.Leu1157=) c.3432C>A (p.Leu1144=) c.3420C>A (p.Leu1140=) c.3363C>A (p.Leu1121=) c.3339C>A (p.Leu1113=) c.3333C>A (p.Leu1111=) c.3315C>A (p.Leu1105=) c.3261C>A (p.Leu1087=) c.2568C>A (p.Leu856=) c.2481C>A (p.Leu827=) n.3757C>A | dbSNP |
| 17 | g.39727795C= | CA2259229263 | ERBB2 | c.3519C= (p.Leu1173=) c.3429C= (p.Leu1143=) c.2691C= (p.Leu897=) c.3474C= (p.Leu1158=) c.*3309C= (n.*3309C=) c.*98C= (n.*98C=) n.3843C= c.3657C= (p.Leu1219=) c.3612C= (p.Leu1204=) c.3567C= (p.Leu1189=) c.3636C= (p.Leu1212=) c.3621C= (p.Leu1207=) c.3600C= (p.Leu1200=) c.3594C= (p.Leu1198=) c.3549C= (p.Leu1183=) c.3540C= (p.Leu1180=) c.3516C= (p.Leu1172=) c.3510C= (p.Leu1170=) c.3483C= (p.Leu1161=) c.3477C= (p.Leu1159=) c.3471C= (p.Leu1157=) c.3432C= (p.Leu1144=) c.3420C= (p.Leu1140=) c.3363C= (p.Leu1121=) c.3339C= (p.Leu1113=) c.3333C= (p.Leu1111=) c.3315C= (p.Leu1105=) c.3261C= (p.Leu1087=) c.2568C= (p.Leu856=) c.2481C= (p.Leu827=) n.3757C= | |
| 17 | g.39727795C>G | CA499890687 | ERBB2 | c.3519C>G (p.Leu1173=) c.3429C>G (p.Leu1143=) c.2691C>G (p.Leu897=) c.3474C>G (p.Leu1158=) c.*3309C>G (n.*3309C>G) c.*98C>G (n.*98C>G) n.3843C>G c.3657C>G (p.Leu1219=) c.3612C>G (p.Leu1204=) c.3567C>G (p.Leu1189=) c.3636C>G (p.Leu1212=) c.3621C>G (p.Leu1207=) c.3600C>G (p.Leu1200=) c.3594C>G (p.Leu1198=) c.3549C>G (p.Leu1183=) c.3540C>G (p.Leu1180=) c.3516C>G (p.Leu1172=) c.3510C>G (p.Leu1170=) c.3483C>G (p.Leu1161=) c.3477C>G (p.Leu1159=) c.3471C>G (p.Leu1157=) c.3432C>G (p.Leu1144=) c.3420C>G (p.Leu1140=) c.3363C>G (p.Leu1121=) c.3339C>G (p.Leu1113=) c.3333C>G (p.Leu1111=) c.3315C>G (p.Leu1105=) c.3261C>G (p.Leu1087=) c.2568C>G (p.Leu856=) c.2481C>G (p.Leu827=) n.3757C>G | dbSNP COSMIC |
| 17 | g.39727795C>T | CA8534575 | ERBB2 | c.3519C>T (p.Leu1173=) c.3429C>T (p.Leu1143=) c.2691C>T (p.Leu897=) c.3474C>T (p.Leu1158=) c.*3309C>T (n.*3309C>T) c.*98C>T (n.*98C>T) n.3843C>T c.3657C>T (p.Leu1219=) c.3612C>T (p.Leu1204=) c.3567C>T (p.Leu1189=) c.3636C>T (p.Leu1212=) c.3621C>T (p.Leu1207=) c.3600C>T (p.Leu1200=) c.3594C>T (p.Leu1198=) c.3549C>T (p.Leu1183=) c.3540C>T (p.Leu1180=) c.3516C>T (p.Leu1172=) c.3510C>T (p.Leu1170=) c.3483C>T (p.Leu1161=) c.3477C>T (p.Leu1159=) c.3471C>T (p.Leu1157=) c.3432C>T (p.Leu1144=) c.3420C>T (p.Leu1140=) c.3363C>T (p.Leu1121=) c.3339C>T (p.Leu1113=) c.3333C>T (p.Leu1111=) c.3315C>T (p.Leu1105=) c.3261C>T (p.Leu1087=) c.2568C>T (p.Leu856=) c.2481C>T (p.Leu827=) n.3757C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.39727796T>A | CA399313289 | ERBB2 | c.3520T>A (p.Ser1174Thr) c.3430T>A (p.Ser1144Thr) c.2692T>A (p.Ser898Thr) c.3475T>A (p.Ser1159Thr) c.*3310T>A (n.*3310T>A) c.*99T>A (n.*99T>A) n.3844T>A c.3658T>A (p.Ser1220Thr) c.3613T>A (p.Ser1205Thr) c.3568T>A (p.Ser1190Thr) c.3637T>A (p.Ser1213Thr) c.3622T>A (p.Ser1208Thr) c.3601T>A (p.Ser1201Thr) c.3595T>A (p.Ser1199Thr) c.3550T>A (p.Ser1184Thr) c.3541T>A (p.Ser1181Thr) c.3517T>A (p.Ser1173Thr) c.3511T>A (p.Ser1171Thr) c.3484T>A (p.Ser1162Thr) c.3478T>A (p.Ser1160Thr) c.3472T>A (p.Ser1158Thr) c.3433T>A (p.Ser1145Thr) c.3421T>A (p.Ser1141Thr) c.3364T>A (p.Ser1122Thr) c.3340T>A (p.Ser1114Thr) c.3334T>A (p.Ser1112Thr) c.3316T>A (p.Ser1106Thr) c.3262T>A (p.Ser1088Thr) c.2569T>A (p.Ser857Thr) c.2482T>A (p.Ser828Thr) n.3758T>A | |
| 17 | g.39727796T>C | CA399313283 | ERBB2 | c.3520T>C (p.Ser1174Pro) c.3430T>C (p.Ser1144Pro) c.2692T>C (p.Ser898Pro) c.3475T>C (p.Ser1159Pro) c.*3310T>C (n.*3310T>C) c.*99T>C (n.*99T>C) n.3844T>C c.3658T>C (p.Ser1220Pro) c.3613T>C (p.Ser1205Pro) c.3568T>C (p.Ser1190Pro) c.3637T>C (p.Ser1213Pro) c.3622T>C (p.Ser1208Pro) c.3601T>C (p.Ser1201Pro) c.3595T>C (p.Ser1199Pro) c.3550T>C (p.Ser1184Pro) c.3541T>C (p.Ser1181Pro) c.3517T>C (p.Ser1173Pro) c.3511T>C (p.Ser1171Pro) c.3484T>C (p.Ser1162Pro) c.3478T>C (p.Ser1160Pro) c.3472T>C (p.Ser1158Pro) c.3433T>C (p.Ser1145Pro) c.3421T>C (p.Ser1141Pro) c.3364T>C (p.Ser1122Pro) c.3340T>C (p.Ser1114Pro) c.3334T>C (p.Ser1112Pro) c.3316T>C (p.Ser1106Pro) c.3262T>C (p.Ser1088Pro) c.2569T>C (p.Ser857Pro) c.2482T>C (p.Ser828Pro) n.3758T>C | |
| 17 | g.39727796T>G | CA399313286 | ERBB2 | c.3520T>G (p.Ser1174Ala) c.3430T>G (p.Ser1144Ala) c.2692T>G (p.Ser898Ala) c.3475T>G (p.Ser1159Ala) c.*3310T>G (n.*3310T>G) c.*99T>G (n.*99T>G) n.3844T>G c.3658T>G (p.Ser1220Ala) c.3613T>G (p.Ser1205Ala) c.3568T>G (p.Ser1190Ala) c.3637T>G (p.Ser1213Ala) c.3622T>G (p.Ser1208Ala) c.3601T>G (p.Ser1201Ala) c.3595T>G (p.Ser1199Ala) c.3550T>G (p.Ser1184Ala) c.3541T>G (p.Ser1181Ala) c.3517T>G (p.Ser1173Ala) c.3511T>G (p.Ser1171Ala) c.3484T>G (p.Ser1162Ala) c.3478T>G (p.Ser1160Ala) c.3472T>G (p.Ser1158Ala) c.3433T>G (p.Ser1145Ala) c.3421T>G (p.Ser1141Ala) c.3364T>G (p.Ser1122Ala) c.3340T>G (p.Ser1114Ala) c.3334T>G (p.Ser1112Ala) c.3316T>G (p.Ser1106Ala) c.3262T>G (p.Ser1088Ala) c.2569T>G (p.Ser857Ala) c.2482T>G (p.Ser828Ala) n.3758T>G | |
| 17 | g.39727797C>A | CA399313297 | ERBB2 | c.3521C>A (p.Ser1174Tyr) c.3431C>A (p.Ser1144Tyr) c.2693C>A (p.Ser898Tyr) c.3476C>A (p.Ser1159Tyr) c.*3311C>A (n.*3311C>A) c.*100C>A (n.*100C>A) n.3845C>A c.3659C>A (p.Ser1220Tyr) c.3614C>A (p.Ser1205Tyr) c.3569C>A (p.Ser1190Tyr) c.3638C>A (p.Ser1213Tyr) c.3623C>A (p.Ser1208Tyr) c.3602C>A (p.Ser1201Tyr) c.3596C>A (p.Ser1199Tyr) c.3551C>A (p.Ser1184Tyr) c.3542C>A (p.Ser1181Tyr) c.3518C>A (p.Ser1173Tyr) c.3512C>A (p.Ser1171Tyr) c.3485C>A (p.Ser1162Tyr) c.3479C>A (p.Ser1160Tyr) c.3473C>A (p.Ser1158Tyr) c.3434C>A (p.Ser1145Tyr) c.3422C>A (p.Ser1141Tyr) c.3365C>A (p.Ser1122Tyr) c.3341C>A (p.Ser1114Tyr) c.3335C>A (p.Ser1112Tyr) c.3317C>A (p.Ser1106Tyr) c.3263C>A (p.Ser1088Tyr) c.2570C>A (p.Ser857Tyr) c.2483C>A (p.Ser828Tyr) n.3759C>A | dbSNP |
| 17 | g.39727797C= | CA2259229264 | ERBB2 | c.3521C= (p.Ser1174=) c.3431C= (p.Ser1144=) c.2693C= (p.Ser898=) c.3476C= (p.Ser1159=) c.*3311C= (n.*3311C=) c.*100C= (n.*100C=) n.3845C= c.3659C= (p.Ser1220=) c.3614C= (p.Ser1205=) c.3569C= (p.Ser1190=) c.3638C= (p.Ser1213=) c.3623C= (p.Ser1208=) c.3602C= (p.Ser1201=) c.3596C= (p.Ser1199=) c.3551C= (p.Ser1184=) c.3542C= (p.Ser1181=) c.3518C= (p.Ser1173=) c.3512C= (p.Ser1171=) c.3485C= (p.Ser1162=) c.3479C= (p.Ser1160=) c.3473C= (p.Ser1158=) c.3434C= (p.Ser1145=) c.3422C= (p.Ser1141=) c.3365C= (p.Ser1122=) c.3341C= (p.Ser1114=) c.3335C= (p.Ser1112=) c.3317C= (p.Ser1106=) c.3263C= (p.Ser1088=) c.2570C= (p.Ser857=) c.2483C= (p.Ser828=) n.3759C= | |
| 17 | g.39727797C>G | CA399313300 | ERBB2 | c.3521C>G (p.Ser1174Cys) c.3431C>G (p.Ser1144Cys) c.2693C>G (p.Ser898Cys) c.3476C>G (p.Ser1159Cys) c.*3311C>G (n.*3311C>G) c.*100C>G (n.*100C>G) n.3845C>G c.3659C>G (p.Ser1220Cys) c.3614C>G (p.Ser1205Cys) c.3569C>G (p.Ser1190Cys) c.3638C>G (p.Ser1213Cys) c.3623C>G (p.Ser1208Cys) c.3602C>G (p.Ser1201Cys) c.3596C>G (p.Ser1199Cys) c.3551C>G (p.Ser1184Cys) c.3542C>G (p.Ser1181Cys) c.3518C>G (p.Ser1173Cys) c.3512C>G (p.Ser1171Cys) c.3485C>G (p.Ser1162Cys) c.3479C>G (p.Ser1160Cys) c.3473C>G (p.Ser1158Cys) c.3434C>G (p.Ser1145Cys) c.3422C>G (p.Ser1141Cys) c.3365C>G (p.Ser1122Cys) c.3341C>G (p.Ser1114Cys) c.3335C>G (p.Ser1112Cys) c.3317C>G (p.Ser1106Cys) c.3263C>G (p.Ser1088Cys) c.2570C>G (p.Ser857Cys) c.2483C>G (p.Ser828Cys) n.3759C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.39727797C>T | CA399313302 | ERBB2 | c.3521C>T (p.Ser1174Phe) c.3431C>T (p.Ser1144Phe) c.2693C>T (p.Ser898Phe) c.3476C>T (p.Ser1159Phe) c.*3311C>T (n.*3311C>T) c.*100C>T (n.*100C>T) n.3845C>T c.3659C>T (p.Ser1220Phe) c.3614C>T (p.Ser1205Phe) c.3569C>T (p.Ser1190Phe) c.3638C>T (p.Ser1213Phe) c.3623C>T (p.Ser1208Phe) c.3602C>T (p.Ser1201Phe) c.3596C>T (p.Ser1199Phe) c.3551C>T (p.Ser1184Phe) c.3542C>T (p.Ser1181Phe) c.3518C>T (p.Ser1173Phe) c.3512C>T (p.Ser1171Phe) c.3485C>T (p.Ser1162Phe) c.3479C>T (p.Ser1160Phe) c.3473C>T (p.Ser1158Phe) c.3434C>T (p.Ser1145Phe) c.3422C>T (p.Ser1141Phe) c.3365C>T (p.Ser1122Phe) c.3341C>T (p.Ser1114Phe) c.3335C>T (p.Ser1112Phe) c.3317C>T (p.Ser1106Phe) c.3263C>T (p.Ser1088Phe) c.2570C>T (p.Ser857Phe) c.2483C>T (p.Ser828Phe) n.3759C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |