Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39727783G>A | CA8534574 | ERBB2 | c.3507G>A (p.Arg1169=) c.3417G>A (p.Arg1139=) c.2679G>A (p.Arg893=) c.3462G>A (p.Arg1154=) c.*3297G>A (n.*3297G>A) c.*86G>A (n.*86G>A) n.3831G>A c.3645G>A (p.Arg1215=) c.3600G>A (p.Arg1200=) c.3555G>A (p.Arg1185=) c.3624G>A (p.Arg1208=) c.3609G>A (p.Arg1203=) c.3588G>A (p.Arg1196=) c.3582G>A (p.Arg1194=) c.3537G>A (p.Arg1179=) c.3528G>A (p.Arg1176=) c.3504G>A (p.Arg1168=) c.3498G>A (p.Arg1166=) c.3471G>A (p.Arg1157=) c.3465G>A (p.Arg1155=) c.3459G>A (p.Arg1153=) c.3420G>A (p.Arg1140=) c.3408G>A (p.Arg1136=) c.3351G>A (p.Arg1117=) c.3327G>A (p.Arg1109=) c.3321G>A (p.Arg1107=) c.3303G>A (p.Arg1101=) c.3249G>A (p.Arg1083=) c.2556G>A (p.Arg852=) c.2469G>A (p.Arg823=) n.3745G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727783G>C | CA399313192 | ERBB2 | c.3507G>C (p.Arg1169Ser) c.3417G>C (p.Arg1139Ser) c.2679G>C (p.Arg893Ser) c.3462G>C (p.Arg1154Ser) c.*3297G>C (n.*3297G>C) c.*86G>C (n.*86G>C) n.3831G>C c.3645G>C (p.Arg1215Ser) c.3600G>C (p.Arg1200Ser) c.3555G>C (p.Arg1185Ser) c.3624G>C (p.Arg1208Ser) c.3609G>C (p.Arg1203Ser) c.3588G>C (p.Arg1196Ser) c.3582G>C (p.Arg1194Ser) c.3537G>C (p.Arg1179Ser) c.3528G>C (p.Arg1176Ser) c.3504G>C (p.Arg1168Ser) c.3498G>C (p.Arg1166Ser) c.3471G>C (p.Arg1157Ser) c.3465G>C (p.Arg1155Ser) c.3459G>C (p.Arg1153Ser) c.3420G>C (p.Arg1140Ser) c.3408G>C (p.Arg1136Ser) c.3351G>C (p.Arg1117Ser) c.3327G>C (p.Arg1109Ser) c.3321G>C (p.Arg1107Ser) c.3303G>C (p.Arg1101Ser) c.3249G>C (p.Arg1083Ser) c.2556G>C (p.Arg852Ser) c.2469G>C (p.Arg823Ser) n.3745G>C | dbSNP |
17 | g.39727783G= | CA2259229258 | ERBB2 | c.3507G= (p.Arg1169=) c.3417G= (p.Arg1139=) c.2679G= (p.Arg893=) c.3462G= (p.Arg1154=) c.*3297G= (n.*3297G=) c.*86G= (n.*86G=) n.3831G= c.3645G= (p.Arg1215=) c.3600G= (p.Arg1200=) c.3555G= (p.Arg1185=) c.3624G= (p.Arg1208=) c.3609G= (p.Arg1203=) c.3588G= (p.Arg1196=) c.3582G= (p.Arg1194=) c.3537G= (p.Arg1179=) c.3528G= (p.Arg1176=) c.3504G= (p.Arg1168=) c.3498G= (p.Arg1166=) c.3471G= (p.Arg1157=) c.3465G= (p.Arg1155=) c.3459G= (p.Arg1153=) c.3420G= (p.Arg1140=) c.3408G= (p.Arg1136=) c.3351G= (p.Arg1117=) c.3327G= (p.Arg1109=) c.3321G= (p.Arg1107=) c.3303G= (p.Arg1101=) c.3249G= (p.Arg1083=) c.2556G= (p.Arg852=) c.2469G= (p.Arg823=) n.3745G= | |
17 | g.39727783G>T | CA399313190 | ERBB2 | c.3507G>T (p.Arg1169Ser) c.3417G>T (p.Arg1139Ser) c.2679G>T (p.Arg893Ser) c.3462G>T (p.Arg1154Ser) c.*3297G>T (n.*3297G>T) c.*86G>T (n.*86G>T) n.3831G>T c.3645G>T (p.Arg1215Ser) c.3600G>T (p.Arg1200Ser) c.3555G>T (p.Arg1185Ser) c.3624G>T (p.Arg1208Ser) c.3609G>T (p.Arg1203Ser) c.3588G>T (p.Arg1196Ser) c.3582G>T (p.Arg1194Ser) c.3537G>T (p.Arg1179Ser) c.3528G>T (p.Arg1176Ser) c.3504G>T (p.Arg1168Ser) c.3498G>T (p.Arg1166Ser) c.3471G>T (p.Arg1157Ser) c.3465G>T (p.Arg1155Ser) c.3459G>T (p.Arg1153Ser) c.3420G>T (p.Arg1140Ser) c.3408G>T (p.Arg1136Ser) c.3351G>T (p.Arg1117Ser) c.3327G>T (p.Arg1109Ser) c.3321G>T (p.Arg1107Ser) c.3303G>T (p.Arg1101Ser) c.3249G>T (p.Arg1083Ser) c.2556G>T (p.Arg852Ser) c.2469G>T (p.Arg823Ser) n.3745G>T | |
17 | g.39727783_39727784delinsGC | CA2259229259 | ERBB2 | c.3507_3508delinsGC (p.Arg1169=) c.3417_3418delinsGC (p.Arg1139=) c.2679_2680delinsGC (p.Arg893=) c.3462_3463delinsGC (p.Arg1154=) c.*3297_*3298delinsGC (n.*3297_*3298delinsGC) c.*86_*87delinsGC (n.*86_*87delinsGC) n.3831_3832delinsGC c.3645_3646delinsGC (p.Arg1215=) c.3600_3601delinsGC (p.Arg1200=) c.3555_3556delinsGC (p.Arg1185=) c.3624_3625delinsGC (p.Arg1208=) c.3609_3610delinsGC (p.Arg1203=) c.3588_3589delinsGC (p.Arg1196=) c.3582_3583delinsGC (p.Arg1194=) c.3537_3538delinsGC (p.Arg1179=) c.3528_3529delinsGC (p.Arg1176=) c.3504_3505delinsGC (p.Arg1168=) c.3498_3499delinsGC (p.Arg1166=) c.3471_3472delinsGC (p.Arg1157=) c.3465_3466delinsGC (p.Arg1155=) c.3459_3460delinsGC (p.Arg1153=) c.3420_3421delinsGC (p.Arg1140=) c.3408_3409delinsGC (p.Arg1136=) c.3351_3352delinsGC (p.Arg1117=) c.3327_3328delinsGC (p.Arg1109=) c.3321_3322delinsGC (p.Arg1107=) c.3303_3304delinsGC (p.Arg1101=) c.3249_3250delinsGC (p.Arg1083=) c.2556_2557delinsGC (p.Arg852=) c.2469_2470delinsGC (p.Arg823=) n.3745_3746delinsGC | |
17 | g.39727784C>A | CA399313199 | ERBB2 | c.3508C>A (p.Pro1170Thr) c.3418C>A (p.Pro1140Thr) c.2680C>A (p.Pro894Thr) c.3463C>A (p.Pro1155Thr) c.*3298C>A (n.*3298C>A) c.*87C>A (n.*87C>A) n.3832C>A c.3646C>A (p.Pro1216Thr) c.3601C>A (p.Pro1201Thr) c.3556C>A (p.Pro1186Thr) c.3625C>A (p.Pro1209Thr) c.3610C>A (p.Pro1204Thr) c.3589C>A (p.Pro1197Thr) c.3583C>A (p.Pro1195Thr) c.3538C>A (p.Pro1180Thr) c.3529C>A (p.Pro1177Thr) c.3505C>A (p.Pro1169Thr) c.3499C>A (p.Pro1167Thr) c.3472C>A (p.Pro1158Thr) c.3466C>A (p.Pro1156Thr) c.3460C>A (p.Pro1154Thr) c.3421C>A (p.Pro1141Thr) c.3409C>A (p.Pro1137Thr) c.3352C>A (p.Pro1118Thr) c.3328C>A (p.Pro1110Thr) c.3322C>A (p.Pro1108Thr) c.3304C>A (p.Pro1102Thr) c.3250C>A (p.Pro1084Thr) c.2557C>A (p.Pro853Thr) c.2470C>A (p.Pro824Thr) n.3746C>A | dbSNP gnomAD v4 |
17 | g.39727784C= | CA2259229260 | ERBB2 | c.3508C= (p.Pro1170=) c.3418C= (p.Pro1140=) c.2680C= (p.Pro894=) c.3463C= (p.Pro1155=) c.*3298C= (n.*3298C=) c.*87C= (n.*87C=) n.3832C= c.3646C= (p.Pro1216=) c.3601C= (p.Pro1201=) c.3556C= (p.Pro1186=) c.3625C= (p.Pro1209=) c.3610C= (p.Pro1204=) c.3589C= (p.Pro1197=) c.3583C= (p.Pro1195=) c.3538C= (p.Pro1180=) c.3529C= (p.Pro1177=) c.3505C= (p.Pro1169=) c.3499C= (p.Pro1167=) c.3472C= (p.Pro1158=) c.3466C= (p.Pro1156=) c.3460C= (p.Pro1154=) c.3421C= (p.Pro1141=) c.3409C= (p.Pro1137=) c.3352C= (p.Pro1118=) c.3328C= (p.Pro1110=) c.3322C= (p.Pro1108=) c.3304C= (p.Pro1102=) c.3250C= (p.Pro1084=) c.2557C= (p.Pro853=) c.2470C= (p.Pro824=) n.3746C= | |
17 | g.39727784C>G | CA158663 | ERBB2 | c.3508C>G (p.Pro1170Ala) c.3418C>G (p.Pro1140Ala) c.2680C>G (p.Pro894Ala) c.3463C>G (p.Pro1155Ala) c.*3298C>G (n.*3298C>G) c.*87C>G (n.*87C>G) n.3832C>G c.3646C>G (p.Pro1216Ala) c.3601C>G (p.Pro1201Ala) c.3556C>G (p.Pro1186Ala) c.3625C>G (p.Pro1209Ala) c.3610C>G (p.Pro1204Ala) c.3589C>G (p.Pro1197Ala) c.3583C>G (p.Pro1195Ala) c.3538C>G (p.Pro1180Ala) c.3529C>G (p.Pro1177Ala) c.3505C>G (p.Pro1169Ala) c.3499C>G (p.Pro1167Ala) c.3472C>G (p.Pro1158Ala) c.3466C>G (p.Pro1156Ala) c.3460C>G (p.Pro1154Ala) c.3421C>G (p.Pro1141Ala) c.3409C>G (p.Pro1137Ala) c.3352C>G (p.Pro1118Ala) c.3328C>G (p.Pro1110Ala) c.3322C>G (p.Pro1108Ala) c.3304C>G (p.Pro1102Ala) c.3250C>G (p.Pro1084Ala) c.2557C>G (p.Pro853Ala) c.2470C>G (p.Pro824Ala) n.3746C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727784C>T | CA399313203 | ERBB2 | c.3508C>T (p.Pro1170Ser) c.3418C>T (p.Pro1140Ser) c.2680C>T (p.Pro894Ser) c.3463C>T (p.Pro1155Ser) c.*3298C>T (n.*3298C>T) c.*87C>T (n.*87C>T) n.3832C>T c.3646C>T (p.Pro1216Ser) c.3601C>T (p.Pro1201Ser) c.3556C>T (p.Pro1186Ser) c.3625C>T (p.Pro1209Ser) c.3610C>T (p.Pro1204Ser) c.3589C>T (p.Pro1197Ser) c.3583C>T (p.Pro1195Ser) c.3538C>T (p.Pro1180Ser) c.3529C>T (p.Pro1177Ser) c.3505C>T (p.Pro1169Ser) c.3499C>T (p.Pro1167Ser) c.3472C>T (p.Pro1158Ser) c.3466C>T (p.Pro1156Ser) c.3460C>T (p.Pro1154Ser) c.3421C>T (p.Pro1141Ser) c.3409C>T (p.Pro1137Ser) c.3352C>T (p.Pro1118Ser) c.3328C>T (p.Pro1110Ser) c.3322C>T (p.Pro1108Ser) c.3304C>T (p.Pro1102Ser) c.3250C>T (p.Pro1084Ser) c.2557C>T (p.Pro853Ser) c.2470C>T (p.Pro824Ser) n.3746C>T | dbSNP |
17 | g.39727786del | CA919838704 | ERBB2 | c.3510del (p.Lys1171ArgfsTer27) c.3420del (p.Lys1141ArgfsTer27) c.2682del (p.Lys895ArgfsTer27) c.3465del (p.Lys1156ArgfsTer27) c.*3300del (n.*3300del) c.*89del (n.*89del) n.3834del c.3648del (p.Lys1217ArgfsTer27) c.3603del (p.Lys1202ArgfsTer27) c.3558del (p.Lys1187ArgfsTer27) c.3627del (p.Lys1210ArgfsTer27) c.3612del (p.Lys1205ArgfsTer27) c.3591del (p.Lys1198ArgfsTer27) c.3585del (p.Lys1196ArgfsTer27) c.3540del (p.Lys1181ArgfsTer27) c.3531del (p.Lys1178ArgfsTer27) c.3507del (p.Lys1170ArgfsTer27) c.3501del (p.Lys1168ArgfsTer27) c.3474del (p.Lys1159ArgfsTer27) c.3468del (p.Lys1157ArgfsTer27) c.3462del (p.Lys1155ArgfsTer27) c.3423del (p.Lys1142ArgfsTer27) c.3411del (p.Lys1138ArgfsTer27) c.3354del (p.Lys1119ArgfsTer27) c.3330del (p.Lys1111ArgfsTer27) c.3324del (p.Lys1109ArgfsTer27) c.3306del (p.Lys1103ArgfsTer27) c.3252del (p.Lys1085ArgfsTer27) c.2559del (p.Lys854ArgfsTer27) c.2472del (p.Lys825ArgfsTer27) n.3748del | dbSNP |
17 | g.39727785C>A | CA399313207 | ERBB2 | c.3509C>A (p.Pro1170His) c.3419C>A (p.Pro1140His) c.2681C>A (p.Pro894His) c.3464C>A (p.Pro1155His) c.*3299C>A (n.*3299C>A) c.*88C>A (n.*88C>A) n.3833C>A c.3647C>A (p.Pro1216His) c.3602C>A (p.Pro1201His) c.3557C>A (p.Pro1186His) c.3626C>A (p.Pro1209His) c.3611C>A (p.Pro1204His) c.3590C>A (p.Pro1197His) c.3584C>A (p.Pro1195His) c.3539C>A (p.Pro1180His) c.3530C>A (p.Pro1177His) c.3506C>A (p.Pro1169His) c.3500C>A (p.Pro1167His) c.3473C>A (p.Pro1158His) c.3467C>A (p.Pro1156His) c.3461C>A (p.Pro1154His) c.3422C>A (p.Pro1141His) c.3410C>A (p.Pro1137His) c.3353C>A (p.Pro1118His) c.3329C>A (p.Pro1110His) c.3323C>A (p.Pro1108His) c.3305C>A (p.Pro1102His) c.3251C>A (p.Pro1084His) c.2558C>A (p.Pro853His) c.2471C>A (p.Pro824His) n.3747C>A | dbSNP |
17 | g.39727785C>G | CA399313209 | ERBB2 | c.3509C>G (p.Pro1170Arg) c.3419C>G (p.Pro1140Arg) c.2681C>G (p.Pro894Arg) c.3464C>G (p.Pro1155Arg) c.*3299C>G (n.*3299C>G) c.*88C>G (n.*88C>G) n.3833C>G c.3647C>G (p.Pro1216Arg) c.3602C>G (p.Pro1201Arg) c.3557C>G (p.Pro1186Arg) c.3626C>G (p.Pro1209Arg) c.3611C>G (p.Pro1204Arg) c.3590C>G (p.Pro1197Arg) c.3584C>G (p.Pro1195Arg) c.3539C>G (p.Pro1180Arg) c.3530C>G (p.Pro1177Arg) c.3506C>G (p.Pro1169Arg) c.3500C>G (p.Pro1167Arg) c.3473C>G (p.Pro1158Arg) c.3467C>G (p.Pro1156Arg) c.3461C>G (p.Pro1154Arg) c.3422C>G (p.Pro1141Arg) c.3410C>G (p.Pro1137Arg) c.3353C>G (p.Pro1118Arg) c.3329C>G (p.Pro1110Arg) c.3323C>G (p.Pro1108Arg) c.3305C>G (p.Pro1102Arg) c.3251C>G (p.Pro1084Arg) c.2558C>G (p.Pro853Arg) c.2471C>G (p.Pro824Arg) n.3747C>G | dbSNP |
17 | g.39727785C>T | CA399313211 | ERBB2 | c.3509C>T (p.Pro1170Leu) c.3419C>T (p.Pro1140Leu) c.2681C>T (p.Pro894Leu) c.3464C>T (p.Pro1155Leu) c.*3299C>T (n.*3299C>T) c.*88C>T (n.*88C>T) n.3833C>T c.3647C>T (p.Pro1216Leu) c.3602C>T (p.Pro1201Leu) c.3557C>T (p.Pro1186Leu) c.3626C>T (p.Pro1209Leu) c.3611C>T (p.Pro1204Leu) c.3590C>T (p.Pro1197Leu) c.3584C>T (p.Pro1195Leu) c.3539C>T (p.Pro1180Leu) c.3530C>T (p.Pro1177Leu) c.3506C>T (p.Pro1169Leu) c.3500C>T (p.Pro1167Leu) c.3473C>T (p.Pro1158Leu) c.3467C>T (p.Pro1156Leu) c.3461C>T (p.Pro1154Leu) c.3422C>T (p.Pro1141Leu) c.3410C>T (p.Pro1137Leu) c.3353C>T (p.Pro1118Leu) c.3329C>T (p.Pro1110Leu) c.3323C>T (p.Pro1108Leu) c.3305C>T (p.Pro1102Leu) c.3251C>T (p.Pro1084Leu) c.2558C>T (p.Pro853Leu) c.2471C>T (p.Pro824Leu) n.3747C>T | dbSNP |
17 | g.39727786C>A | CA499890667 | ERBB2 | c.3510C>A (p.Pro1170=) c.3420C>A (p.Pro1140=) c.2682C>A (p.Pro894=) c.3465C>A (p.Pro1155=) c.*3300C>A (n.*3300C>A) c.*89C>A (n.*89C>A) n.3834C>A c.3648C>A (p.Pro1216=) c.3603C>A (p.Pro1201=) c.3558C>A (p.Pro1186=) c.3627C>A (p.Pro1209=) c.3612C>A (p.Pro1204=) c.3591C>A (p.Pro1197=) c.3585C>A (p.Pro1195=) c.3540C>A (p.Pro1180=) c.3531C>A (p.Pro1177=) c.3507C>A (p.Pro1169=) c.3501C>A (p.Pro1167=) c.3474C>A (p.Pro1158=) c.3468C>A (p.Pro1156=) c.3462C>A (p.Pro1154=) c.3423C>A (p.Pro1141=) c.3411C>A (p.Pro1137=) c.3354C>A (p.Pro1118=) c.3330C>A (p.Pro1110=) c.3324C>A (p.Pro1108=) c.3306C>A (p.Pro1102=) c.3252C>A (p.Pro1084=) c.2559C>A (p.Pro853=) c.2472C>A (p.Pro824=) n.3748C>A | dbSNP |
17 | g.39727786C>G | CA499890668 | ERBB2 | c.3510C>G (p.Pro1170=) c.3420C>G (p.Pro1140=) c.2682C>G (p.Pro894=) c.3465C>G (p.Pro1155=) c.*3300C>G (n.*3300C>G) c.*89C>G (n.*89C>G) n.3834C>G c.3648C>G (p.Pro1216=) c.3603C>G (p.Pro1201=) c.3558C>G (p.Pro1186=) c.3627C>G (p.Pro1209=) c.3612C>G (p.Pro1204=) c.3591C>G (p.Pro1197=) c.3585C>G (p.Pro1195=) c.3540C>G (p.Pro1180=) c.3531C>G (p.Pro1177=) c.3507C>G (p.Pro1169=) c.3501C>G (p.Pro1167=) c.3474C>G (p.Pro1158=) c.3468C>G (p.Pro1156=) c.3462C>G (p.Pro1154=) c.3423C>G (p.Pro1141=) c.3411C>G (p.Pro1137=) c.3354C>G (p.Pro1118=) c.3330C>G (p.Pro1110=) c.3324C>G (p.Pro1108=) c.3306C>G (p.Pro1102=) c.3252C>G (p.Pro1084=) c.2559C>G (p.Pro853=) c.2472C>G (p.Pro824=) n.3748C>G | dbSNP gnomAD v4 |
17 | g.39727786C>T | CA499890670 | ERBB2 | c.3510C>T (p.Pro1170=) c.3420C>T (p.Pro1140=) c.2682C>T (p.Pro894=) c.3465C>T (p.Pro1155=) c.*3300C>T (n.*3300C>T) c.*89C>T (n.*89C>T) n.3834C>T c.3648C>T (p.Pro1216=) c.3603C>T (p.Pro1201=) c.3558C>T (p.Pro1186=) c.3627C>T (p.Pro1209=) c.3612C>T (p.Pro1204=) c.3591C>T (p.Pro1197=) c.3585C>T (p.Pro1195=) c.3540C>T (p.Pro1180=) c.3531C>T (p.Pro1177=) c.3507C>T (p.Pro1169=) c.3501C>T (p.Pro1167=) c.3474C>T (p.Pro1158=) c.3468C>T (p.Pro1156=) c.3462C>T (p.Pro1154=) c.3423C>T (p.Pro1141=) c.3411C>T (p.Pro1137=) c.3354C>T (p.Pro1118=) c.3330C>T (p.Pro1110=) c.3324C>T (p.Pro1108=) c.3306C>T (p.Pro1102=) c.3252C>T (p.Pro1084=) c.2559C>T (p.Pro853=) c.2472C>T (p.Pro824=) n.3748C>T | dbSNP |
17 | g.39727787A>C | CA399313223 | ERBB2 | c.3511A>C (p.Lys1171Gln) c.3421A>C (p.Lys1141Gln) c.2683A>C (p.Lys895Gln) c.3466A>C (p.Lys1156Gln) c.*3301A>C (n.*3301A>C) c.*90A>C (n.*90A>C) n.3835A>C c.3649A>C (p.Lys1217Gln) c.3604A>C (p.Lys1202Gln) c.3559A>C (p.Lys1187Gln) c.3628A>C (p.Lys1210Gln) c.3613A>C (p.Lys1205Gln) c.3592A>C (p.Lys1198Gln) c.3586A>C (p.Lys1196Gln) c.3541A>C (p.Lys1181Gln) c.3532A>C (p.Lys1178Gln) c.3508A>C (p.Lys1170Gln) c.3502A>C (p.Lys1168Gln) c.3475A>C (p.Lys1159Gln) c.3469A>C (p.Lys1157Gln) c.3463A>C (p.Lys1155Gln) c.3424A>C (p.Lys1142Gln) c.3412A>C (p.Lys1138Gln) c.3355A>C (p.Lys1119Gln) c.3331A>C (p.Lys1111Gln) c.3325A>C (p.Lys1109Gln) c.3307A>C (p.Lys1103Gln) c.3253A>C (p.Lys1085Gln) c.2560A>C (p.Lys854Gln) c.2473A>C (p.Lys825Gln) n.3749A>C | dbSNP |
17 | g.39727787A>G | CA399313225 | ERBB2 | c.3511A>G (p.Lys1171Glu) c.3421A>G (p.Lys1141Glu) c.2683A>G (p.Lys895Glu) c.3466A>G (p.Lys1156Glu) c.*3301A>G (n.*3301A>G) c.*90A>G (n.*90A>G) n.3835A>G c.3649A>G (p.Lys1217Glu) c.3604A>G (p.Lys1202Glu) c.3559A>G (p.Lys1187Glu) c.3628A>G (p.Lys1210Glu) c.3613A>G (p.Lys1205Glu) c.3592A>G (p.Lys1198Glu) c.3586A>G (p.Lys1196Glu) c.3541A>G (p.Lys1181Glu) c.3532A>G (p.Lys1178Glu) c.3508A>G (p.Lys1170Glu) c.3502A>G (p.Lys1168Glu) c.3475A>G (p.Lys1159Glu) c.3469A>G (p.Lys1157Glu) c.3463A>G (p.Lys1155Glu) c.3424A>G (p.Lys1142Glu) c.3412A>G (p.Lys1138Glu) c.3355A>G (p.Lys1119Glu) c.3331A>G (p.Lys1111Glu) c.3325A>G (p.Lys1109Glu) c.3307A>G (p.Lys1103Glu) c.3253A>G (p.Lys1085Glu) c.2560A>G (p.Lys854Glu) c.2473A>G (p.Lys825Glu) n.3749A>G | dbSNP |
17 | g.39727787A>T | CA399313226 | ERBB2 | c.3511A>T (p.Lys1171Ter) c.3421A>T (p.Lys1141Ter) c.2683A>T (p.Lys895Ter) c.3466A>T (p.Lys1156Ter) c.*3301A>T (n.*3301A>T) c.*90A>T (n.*90A>T) n.3835A>T c.3649A>T (p.Lys1217Ter) c.3604A>T (p.Lys1202Ter) c.3559A>T (p.Lys1187Ter) c.3628A>T (p.Lys1210Ter) c.3613A>T (p.Lys1205Ter) c.3592A>T (p.Lys1198Ter) c.3586A>T (p.Lys1196Ter) c.3541A>T (p.Lys1181Ter) c.3532A>T (p.Lys1178Ter) c.3508A>T (p.Lys1170Ter) c.3502A>T (p.Lys1168Ter) c.3475A>T (p.Lys1159Ter) c.3469A>T (p.Lys1157Ter) c.3463A>T (p.Lys1155Ter) c.3424A>T (p.Lys1142Ter) c.3412A>T (p.Lys1138Ter) c.3355A>T (p.Lys1119Ter) c.3331A>T (p.Lys1111Ter) c.3325A>T (p.Lys1109Ter) c.3307A>T (p.Lys1103Ter) c.3253A>T (p.Lys1085Ter) c.2560A>T (p.Lys854Ter) c.2473A>T (p.Lys825Ter) n.3749A>T | dbSNP |
17 | g.39727788A= | CA2259229261 | ERBB2 | c.3512A= (p.Lys1171=) c.3422A= (p.Lys1141=) c.2684A= (p.Lys895=) c.3467A= (p.Lys1156=) c.*3302A= (n.*3302A=) c.*91A= (n.*91A=) n.3836A= c.3650A= (p.Lys1217=) c.3605A= (p.Lys1202=) c.3560A= (p.Lys1187=) c.3629A= (p.Lys1210=) c.3614A= (p.Lys1205=) c.3593A= (p.Lys1198=) c.3587A= (p.Lys1196=) c.3542A= (p.Lys1181=) c.3533A= (p.Lys1178=) c.3509A= (p.Lys1170=) c.3503A= (p.Lys1168=) c.3476A= (p.Lys1159=) c.3470A= (p.Lys1157=) c.3464A= (p.Lys1155=) c.3425A= (p.Lys1142=) c.3413A= (p.Lys1138=) c.3356A= (p.Lys1119=) c.3332A= (p.Lys1111=) c.3326A= (p.Lys1109=) c.3308A= (p.Lys1103=) c.3254A= (p.Lys1085=) c.2561A= (p.Lys854=) c.2474A= (p.Lys825=) n.3750A= | |
17 | g.39727788A>C | CA399313228 | ERBB2 | c.3512A>C (p.Lys1171Thr) c.3422A>C (p.Lys1141Thr) c.2684A>C (p.Lys895Thr) c.3467A>C (p.Lys1156Thr) c.*3302A>C (n.*3302A>C) c.*91A>C (n.*91A>C) n.3836A>C c.3650A>C (p.Lys1217Thr) c.3605A>C (p.Lys1202Thr) c.3560A>C (p.Lys1187Thr) c.3629A>C (p.Lys1210Thr) c.3614A>C (p.Lys1205Thr) c.3593A>C (p.Lys1198Thr) c.3587A>C (p.Lys1196Thr) c.3542A>C (p.Lys1181Thr) c.3533A>C (p.Lys1178Thr) c.3509A>C (p.Lys1170Thr) c.3503A>C (p.Lys1168Thr) c.3476A>C (p.Lys1159Thr) c.3470A>C (p.Lys1157Thr) c.3464A>C (p.Lys1155Thr) c.3425A>C (p.Lys1142Thr) c.3413A>C (p.Lys1138Thr) c.3356A>C (p.Lys1119Thr) c.3332A>C (p.Lys1111Thr) c.3326A>C (p.Lys1109Thr) c.3308A>C (p.Lys1103Thr) c.3254A>C (p.Lys1085Thr) c.2561A>C (p.Lys854Thr) c.2474A>C (p.Lys825Thr) n.3750A>C | |
17 | g.39727788A>G | CA399313231 | ERBB2 | c.3512A>G (p.Lys1171Arg) c.3422A>G (p.Lys1141Arg) c.2684A>G (p.Lys895Arg) c.3467A>G (p.Lys1156Arg) c.*3302A>G (n.*3302A>G) c.*91A>G (n.*91A>G) n.3836A>G c.3650A>G (p.Lys1217Arg) c.3605A>G (p.Lys1202Arg) c.3560A>G (p.Lys1187Arg) c.3629A>G (p.Lys1210Arg) c.3614A>G (p.Lys1205Arg) c.3593A>G (p.Lys1198Arg) c.3587A>G (p.Lys1196Arg) c.3542A>G (p.Lys1181Arg) c.3533A>G (p.Lys1178Arg) c.3509A>G (p.Lys1170Arg) c.3503A>G (p.Lys1168Arg) c.3476A>G (p.Lys1159Arg) c.3470A>G (p.Lys1157Arg) c.3464A>G (p.Lys1155Arg) c.3425A>G (p.Lys1142Arg) c.3413A>G (p.Lys1138Arg) c.3356A>G (p.Lys1119Arg) c.3332A>G (p.Lys1111Arg) c.3326A>G (p.Lys1109Arg) c.3308A>G (p.Lys1103Arg) c.3254A>G (p.Lys1085Arg) c.2561A>G (p.Lys854Arg) c.2474A>G (p.Lys825Arg) n.3750A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727788A>T | CA399313234 | ERBB2 | c.3512A>T (p.Lys1171Met) c.3422A>T (p.Lys1141Met) c.2684A>T (p.Lys895Met) c.3467A>T (p.Lys1156Met) c.*3302A>T (n.*3302A>T) c.*91A>T (n.*91A>T) n.3836A>T c.3650A>T (p.Lys1217Met) c.3605A>T (p.Lys1202Met) c.3560A>T (p.Lys1187Met) c.3629A>T (p.Lys1210Met) c.3614A>T (p.Lys1205Met) c.3593A>T (p.Lys1198Met) c.3587A>T (p.Lys1196Met) c.3542A>T (p.Lys1181Met) c.3533A>T (p.Lys1178Met) c.3509A>T (p.Lys1170Met) c.3503A>T (p.Lys1168Met) c.3476A>T (p.Lys1159Met) c.3470A>T (p.Lys1157Met) c.3464A>T (p.Lys1155Met) c.3425A>T (p.Lys1142Met) c.3413A>T (p.Lys1138Met) c.3356A>T (p.Lys1119Met) c.3332A>T (p.Lys1111Met) c.3326A>T (p.Lys1109Met) c.3308A>T (p.Lys1103Met) c.3254A>T (p.Lys1085Met) c.2561A>T (p.Lys854Met) c.2474A>T (p.Lys825Met) n.3750A>T | dbSNP COSMIC |
17 | g.39727789G>A | CA499890673 | ERBB2 | c.3513G>A (p.Lys1171=) c.3423G>A (p.Lys1141=) c.2685G>A (p.Lys895=) c.3468G>A (p.Lys1156=) c.*3303G>A (n.*3303G>A) c.*92G>A (n.*92G>A) n.3837G>A c.3651G>A (p.Lys1217=) c.3606G>A (p.Lys1202=) c.3561G>A (p.Lys1187=) c.3630G>A (p.Lys1210=) c.3615G>A (p.Lys1205=) c.3594G>A (p.Lys1198=) c.3588G>A (p.Lys1196=) c.3543G>A (p.Lys1181=) c.3534G>A (p.Lys1178=) c.3510G>A (p.Lys1170=) c.3504G>A (p.Lys1168=) c.3477G>A (p.Lys1159=) c.3471G>A (p.Lys1157=) c.3465G>A (p.Lys1155=) c.3426G>A (p.Lys1142=) c.3414G>A (p.Lys1138=) c.3357G>A (p.Lys1119=) c.3333G>A (p.Lys1111=) c.3327G>A (p.Lys1109=) c.3309G>A (p.Lys1103=) c.3255G>A (p.Lys1085=) c.2562G>A (p.Lys854=) c.2475G>A (p.Lys825=) n.3751G>A | dbSNP |
17 | g.39727789G>C | CA399313237 | ERBB2 | c.3513G>C (p.Lys1171Asn) c.3423G>C (p.Lys1141Asn) c.2685G>C (p.Lys895Asn) c.3468G>C (p.Lys1156Asn) c.*3303G>C (n.*3303G>C) c.*92G>C (n.*92G>C) n.3837G>C c.3651G>C (p.Lys1217Asn) c.3606G>C (p.Lys1202Asn) c.3561G>C (p.Lys1187Asn) c.3630G>C (p.Lys1210Asn) c.3615G>C (p.Lys1205Asn) c.3594G>C (p.Lys1198Asn) c.3588G>C (p.Lys1196Asn) c.3543G>C (p.Lys1181Asn) c.3534G>C (p.Lys1178Asn) c.3510G>C (p.Lys1170Asn) c.3504G>C (p.Lys1168Asn) c.3477G>C (p.Lys1159Asn) c.3471G>C (p.Lys1157Asn) c.3465G>C (p.Lys1155Asn) c.3426G>C (p.Lys1142Asn) c.3414G>C (p.Lys1138Asn) c.3357G>C (p.Lys1119Asn) c.3333G>C (p.Lys1111Asn) c.3327G>C (p.Lys1109Asn) c.3309G>C (p.Lys1103Asn) c.3255G>C (p.Lys1085Asn) c.2562G>C (p.Lys854Asn) c.2475G>C (p.Lys825Asn) n.3751G>C | dbSNP |
17 | g.39727789G>T | CA399313235 | ERBB2 | c.3513G>T (p.Lys1171Asn) c.3423G>T (p.Lys1141Asn) c.2685G>T (p.Lys895Asn) c.3468G>T (p.Lys1156Asn) c.*3303G>T (n.*3303G>T) c.*92G>T (n.*92G>T) n.3837G>T c.3651G>T (p.Lys1217Asn) c.3606G>T (p.Lys1202Asn) c.3561G>T (p.Lys1187Asn) c.3630G>T (p.Lys1210Asn) c.3615G>T (p.Lys1205Asn) c.3594G>T (p.Lys1198Asn) c.3588G>T (p.Lys1196Asn) c.3543G>T (p.Lys1181Asn) c.3534G>T (p.Lys1178Asn) c.3510G>T (p.Lys1170Asn) c.3504G>T (p.Lys1168Asn) c.3477G>T (p.Lys1159Asn) c.3471G>T (p.Lys1157Asn) c.3465G>T (p.Lys1155Asn) c.3426G>T (p.Lys1142Asn) c.3414G>T (p.Lys1138Asn) c.3357G>T (p.Lys1119Asn) c.3333G>T (p.Lys1111Asn) c.3327G>T (p.Lys1109Asn) c.3309G>T (p.Lys1103Asn) c.3255G>T (p.Lys1085Asn) c.2562G>T (p.Lys854Asn) c.2475G>T (p.Lys825Asn) n.3751G>T | dbSNP |
17 | g.39727790A>C | CA399313239 | ERBB2 | c.3514A>C (p.Thr1172Pro) c.3424A>C (p.Thr1142Pro) c.2686A>C (p.Thr896Pro) c.3469A>C (p.Thr1157Pro) c.*3304A>C (n.*3304A>C) c.*93A>C (n.*93A>C) n.3838A>C c.3652A>C (p.Thr1218Pro) c.3607A>C (p.Thr1203Pro) c.3562A>C (p.Thr1188Pro) c.3631A>C (p.Thr1211Pro) c.3616A>C (p.Thr1206Pro) c.3595A>C (p.Thr1199Pro) c.3589A>C (p.Thr1197Pro) c.3544A>C (p.Thr1182Pro) c.3535A>C (p.Thr1179Pro) c.3511A>C (p.Thr1171Pro) c.3505A>C (p.Thr1169Pro) c.3478A>C (p.Thr1160Pro) c.3472A>C (p.Thr1158Pro) c.3466A>C (p.Thr1156Pro) c.3427A>C (p.Thr1143Pro) c.3415A>C (p.Thr1139Pro) c.3358A>C (p.Thr1120Pro) c.3334A>C (p.Thr1112Pro) c.3328A>C (p.Thr1110Pro) c.3310A>C (p.Thr1104Pro) c.3256A>C (p.Thr1086Pro) c.2563A>C (p.Thr855Pro) c.2476A>C (p.Thr826Pro) n.3752A>C | dbSNP |
17 | g.39727790A>G | CA399313241 | ERBB2 | c.3514A>G (p.Thr1172Ala) c.3424A>G (p.Thr1142Ala) c.2686A>G (p.Thr896Ala) c.3469A>G (p.Thr1157Ala) c.*3304A>G (n.*3304A>G) c.*93A>G (n.*93A>G) n.3838A>G c.3652A>G (p.Thr1218Ala) c.3607A>G (p.Thr1203Ala) c.3562A>G (p.Thr1188Ala) c.3631A>G (p.Thr1211Ala) c.3616A>G (p.Thr1206Ala) c.3595A>G (p.Thr1199Ala) c.3589A>G (p.Thr1197Ala) c.3544A>G (p.Thr1182Ala) c.3535A>G (p.Thr1179Ala) c.3511A>G (p.Thr1171Ala) c.3505A>G (p.Thr1169Ala) c.3478A>G (p.Thr1160Ala) c.3472A>G (p.Thr1158Ala) c.3466A>G (p.Thr1156Ala) c.3427A>G (p.Thr1143Ala) c.3415A>G (p.Thr1139Ala) c.3358A>G (p.Thr1120Ala) c.3334A>G (p.Thr1112Ala) c.3328A>G (p.Thr1110Ala) c.3310A>G (p.Thr1104Ala) c.3256A>G (p.Thr1086Ala) c.2563A>G (p.Thr855Ala) c.2476A>G (p.Thr826Ala) n.3752A>G | dbSNP |
17 | g.39727790A>T | CA399313243 | ERBB2 | c.3514A>T (p.Thr1172Ser) c.3424A>T (p.Thr1142Ser) c.2686A>T (p.Thr896Ser) c.3469A>T (p.Thr1157Ser) c.*3304A>T (n.*3304A>T) c.*93A>T (n.*93A>T) n.3838A>T c.3652A>T (p.Thr1218Ser) c.3607A>T (p.Thr1203Ser) c.3562A>T (p.Thr1188Ser) c.3631A>T (p.Thr1211Ser) c.3616A>T (p.Thr1206Ser) c.3595A>T (p.Thr1199Ser) c.3589A>T (p.Thr1197Ser) c.3544A>T (p.Thr1182Ser) c.3535A>T (p.Thr1179Ser) c.3511A>T (p.Thr1171Ser) c.3505A>T (p.Thr1169Ser) c.3478A>T (p.Thr1160Ser) c.3472A>T (p.Thr1158Ser) c.3466A>T (p.Thr1156Ser) c.3427A>T (p.Thr1143Ser) c.3415A>T (p.Thr1139Ser) c.3358A>T (p.Thr1120Ser) c.3334A>T (p.Thr1112Ser) c.3328A>T (p.Thr1110Ser) c.3310A>T (p.Thr1104Ser) c.3256A>T (p.Thr1086Ser) c.2563A>T (p.Thr855Ser) c.2476A>T (p.Thr826Ser) n.3752A>T | ClinVar |
17 | g.39727791C>A | CA399313247 | ERBB2 | c.3515C>A (p.Thr1172Asn) c.3425C>A (p.Thr1142Asn) c.2687C>A (p.Thr896Asn) c.3470C>A (p.Thr1157Asn) c.*3305C>A (n.*3305C>A) c.*94C>A (n.*94C>A) n.3839C>A c.3653C>A (p.Thr1218Asn) c.3608C>A (p.Thr1203Asn) c.3563C>A (p.Thr1188Asn) c.3632C>A (p.Thr1211Asn) c.3617C>A (p.Thr1206Asn) c.3596C>A (p.Thr1199Asn) c.3590C>A (p.Thr1197Asn) c.3545C>A (p.Thr1182Asn) c.3536C>A (p.Thr1179Asn) c.3512C>A (p.Thr1171Asn) c.3506C>A (p.Thr1169Asn) c.3479C>A (p.Thr1160Asn) c.3473C>A (p.Thr1158Asn) c.3467C>A (p.Thr1156Asn) c.3428C>A (p.Thr1143Asn) c.3416C>A (p.Thr1139Asn) c.3359C>A (p.Thr1120Asn) c.3335C>A (p.Thr1112Asn) c.3329C>A (p.Thr1110Asn) c.3311C>A (p.Thr1104Asn) c.3257C>A (p.Thr1086Asn) c.2564C>A (p.Thr855Asn) c.2477C>A (p.Thr826Asn) n.3753C>A | dbSNP |
17 | g.39727791C>G | CA399313254 | ERBB2 | c.3515C>G (p.Thr1172Ser) c.3425C>G (p.Thr1142Ser) c.2687C>G (p.Thr896Ser) c.3470C>G (p.Thr1157Ser) c.*3305C>G (n.*3305C>G) c.*94C>G (n.*94C>G) n.3839C>G c.3653C>G (p.Thr1218Ser) c.3608C>G (p.Thr1203Ser) c.3563C>G (p.Thr1188Ser) c.3632C>G (p.Thr1211Ser) c.3617C>G (p.Thr1206Ser) c.3596C>G (p.Thr1199Ser) c.3590C>G (p.Thr1197Ser) c.3545C>G (p.Thr1182Ser) c.3536C>G (p.Thr1179Ser) c.3512C>G (p.Thr1171Ser) c.3506C>G (p.Thr1169Ser) c.3479C>G (p.Thr1160Ser) c.3473C>G (p.Thr1158Ser) c.3467C>G (p.Thr1156Ser) c.3428C>G (p.Thr1143Ser) c.3416C>G (p.Thr1139Ser) c.3359C>G (p.Thr1120Ser) c.3335C>G (p.Thr1112Ser) c.3329C>G (p.Thr1110Ser) c.3311C>G (p.Thr1104Ser) c.3257C>G (p.Thr1086Ser) c.2564C>G (p.Thr855Ser) c.2477C>G (p.Thr826Ser) n.3753C>G | dbSNP |
17 | g.39727791C>T | CA399313256 | ERBB2 | c.3515C>T (p.Thr1172Ile) c.3425C>T (p.Thr1142Ile) c.2687C>T (p.Thr896Ile) c.3470C>T (p.Thr1157Ile) c.*3305C>T (n.*3305C>T) c.*94C>T (n.*94C>T) n.3839C>T c.3653C>T (p.Thr1218Ile) c.3608C>T (p.Thr1203Ile) c.3563C>T (p.Thr1188Ile) c.3632C>T (p.Thr1211Ile) c.3617C>T (p.Thr1206Ile) c.3596C>T (p.Thr1199Ile) c.3590C>T (p.Thr1197Ile) c.3545C>T (p.Thr1182Ile) c.3536C>T (p.Thr1179Ile) c.3512C>T (p.Thr1171Ile) c.3506C>T (p.Thr1169Ile) c.3479C>T (p.Thr1160Ile) c.3473C>T (p.Thr1158Ile) c.3467C>T (p.Thr1156Ile) c.3428C>T (p.Thr1143Ile) c.3416C>T (p.Thr1139Ile) c.3359C>T (p.Thr1120Ile) c.3335C>T (p.Thr1112Ile) c.3329C>T (p.Thr1110Ile) c.3311C>T (p.Thr1104Ile) c.3257C>T (p.Thr1086Ile) c.2564C>T (p.Thr855Ile) c.2477C>T (p.Thr826Ile) n.3753C>T | dbSNP |
17 | g.39727796_39727797del | CA2637630211 | ERBB2 | c.3520_3521del (p.Ser1174ProfsTer?) c.3430_3431del (p.Ser1144ProfsTer?) c.2692_2693del (p.Ser898ProfsTer?) c.3475_3476del (p.Ser1159ProfsTer?) c.*3310_*3311del (n.*3310_*3311del) c.*99_*100del (n.*99_*100del) n.3844_3845del c.3658_3659del (p.Ser1220ProfsTer?) c.3613_3614del (p.Ser1205ProfsTer?) c.3568_3569del (p.Ser1190ProfsTer?) c.3637_3638del (p.Ser1213ProfsTer?) c.3622_3623del (p.Ser1208ProfsTer?) c.3601_3602del (p.Ser1201ProfsTer?) c.3595_3596del (p.Ser1199ProfsTer?) c.3550_3551del (p.Ser1184ProfsTer?) c.3541_3542del (p.Ser1181ProfsTer?) c.3517_3518del (p.Ser1173ProfsTer?) c.3511_3512del (p.Ser1171ProfsTer?) c.3484_3485del (p.Ser1162ProfsTer?) c.3478_3479del (p.Ser1160ProfsTer?) c.3472_3473del (p.Ser1158ProfsTer?) c.3433_3434del (p.Ser1145ProfsTer?) c.3421_3422del (p.Ser1141ProfsTer?) c.3364_3365del (p.Ser1122ProfsTer?) c.3340_3341del (p.Ser1114ProfsTer?) c.3334_3335del (p.Ser1112ProfsTer?) c.3316_3317del (p.Ser1106ProfsTer?) c.3262_3263del (p.Ser1088ProfsTer?) c.2569_2570del (p.Ser857ProfsTer?) c.2482_2483del (p.Ser828ProfsTer?) n.3758_3759del | gnomAD v4 |
17 | g.39727792T>A | CA499890680 | ERBB2 | c.3516T>A (p.Thr1172=) c.3426T>A (p.Thr1142=) c.2688T>A (p.Thr896=) c.3471T>A (p.Thr1157=) c.*3306T>A (n.*3306T>A) c.*95T>A (n.*95T>A) n.3840T>A c.3654T>A (p.Thr1218=) c.3609T>A (p.Thr1203=) c.3564T>A (p.Thr1188=) c.3633T>A (p.Thr1211=) c.3618T>A (p.Thr1206=) c.3597T>A (p.Thr1199=) c.3591T>A (p.Thr1197=) c.3546T>A (p.Thr1182=) c.3537T>A (p.Thr1179=) c.3513T>A (p.Thr1171=) c.3507T>A (p.Thr1169=) c.3480T>A (p.Thr1160=) c.3474T>A (p.Thr1158=) c.3468T>A (p.Thr1156=) c.3429T>A (p.Thr1143=) c.3417T>A (p.Thr1139=) c.3360T>A (p.Thr1120=) c.3336T>A (p.Thr1112=) c.3330T>A (p.Thr1110=) c.3312T>A (p.Thr1104=) c.3258T>A (p.Thr1086=) c.2565T>A (p.Thr855=) c.2478T>A (p.Thr826=) n.3754T>A | |
17 | g.39727792T>C | CA499890682 | ERBB2 | c.3516T>C (p.Thr1172=) c.3426T>C (p.Thr1142=) c.2688T>C (p.Thr896=) c.3471T>C (p.Thr1157=) c.*3306T>C (n.*3306T>C) c.*95T>C (n.*95T>C) n.3840T>C c.3654T>C (p.Thr1218=) c.3609T>C (p.Thr1203=) c.3564T>C (p.Thr1188=) c.3633T>C (p.Thr1211=) c.3618T>C (p.Thr1206=) c.3597T>C (p.Thr1199=) c.3591T>C (p.Thr1197=) c.3546T>C (p.Thr1182=) c.3537T>C (p.Thr1179=) c.3513T>C (p.Thr1171=) c.3507T>C (p.Thr1169=) c.3480T>C (p.Thr1160=) c.3474T>C (p.Thr1158=) c.3468T>C (p.Thr1156=) c.3429T>C (p.Thr1143=) c.3417T>C (p.Thr1139=) c.3360T>C (p.Thr1120=) c.3336T>C (p.Thr1112=) c.3330T>C (p.Thr1110=) c.3312T>C (p.Thr1104=) c.3258T>C (p.Thr1086=) c.2565T>C (p.Thr855=) c.2478T>C (p.Thr826=) n.3754T>C | |
17 | g.39727792T>G | CA499890684 | ERBB2 | c.3516T>G (p.Thr1172=) c.3426T>G (p.Thr1142=) c.2688T>G (p.Thr896=) c.3471T>G (p.Thr1157=) c.*3306T>G (n.*3306T>G) c.*95T>G (n.*95T>G) n.3840T>G c.3654T>G (p.Thr1218=) c.3609T>G (p.Thr1203=) c.3564T>G (p.Thr1188=) c.3633T>G (p.Thr1211=) c.3618T>G (p.Thr1206=) c.3597T>G (p.Thr1199=) c.3591T>G (p.Thr1197=) c.3546T>G (p.Thr1182=) c.3537T>G (p.Thr1179=) c.3513T>G (p.Thr1171=) c.3507T>G (p.Thr1169=) c.3480T>G (p.Thr1160=) c.3474T>G (p.Thr1158=) c.3468T>G (p.Thr1156=) c.3429T>G (p.Thr1143=) c.3417T>G (p.Thr1139=) c.3360T>G (p.Thr1120=) c.3336T>G (p.Thr1112=) c.3330T>G (p.Thr1110=) c.3312T>G (p.Thr1104=) c.3258T>G (p.Thr1086=) c.2565T>G (p.Thr855=) c.2478T>G (p.Thr826=) n.3754T>G | gnomAD v3 gnomAD v4 |
17 | g.39727793C>A | CA399313261 | ERBB2 | c.3517C>A (p.Leu1173Ile) c.3427C>A (p.Leu1143Ile) c.2689C>A (p.Leu897Ile) c.3472C>A (p.Leu1158Ile) c.*3307C>A (n.*3307C>A) c.*96C>A (n.*96C>A) n.3841C>A c.3655C>A (p.Leu1219Ile) c.3610C>A (p.Leu1204Ile) c.3565C>A (p.Leu1189Ile) c.3634C>A (p.Leu1212Ile) c.3619C>A (p.Leu1207Ile) c.3598C>A (p.Leu1200Ile) c.3592C>A (p.Leu1198Ile) c.3547C>A (p.Leu1183Ile) c.3538C>A (p.Leu1180Ile) c.3514C>A (p.Leu1172Ile) c.3508C>A (p.Leu1170Ile) c.3481C>A (p.Leu1161Ile) c.3475C>A (p.Leu1159Ile) c.3469C>A (p.Leu1157Ile) c.3430C>A (p.Leu1144Ile) c.3418C>A (p.Leu1140Ile) c.3361C>A (p.Leu1121Ile) c.3337C>A (p.Leu1113Ile) c.3331C>A (p.Leu1111Ile) c.3313C>A (p.Leu1105Ile) c.3259C>A (p.Leu1087Ile) c.2566C>A (p.Leu856Ile) c.2479C>A (p.Leu827Ile) n.3755C>A | |
17 | g.39727793C= | CA2259229262 | ERBB2 | c.3517C= (p.Leu1173=) c.3427C= (p.Leu1143=) c.2689C= (p.Leu897=) c.3472C= (p.Leu1158=) c.*3307C= (n.*3307C=) c.*96C= (n.*96C=) n.3841C= c.3655C= (p.Leu1219=) c.3610C= (p.Leu1204=) c.3565C= (p.Leu1189=) c.3634C= (p.Leu1212=) c.3619C= (p.Leu1207=) c.3598C= (p.Leu1200=) c.3592C= (p.Leu1198=) c.3547C= (p.Leu1183=) c.3538C= (p.Leu1180=) c.3514C= (p.Leu1172=) c.3508C= (p.Leu1170=) c.3481C= (p.Leu1161=) c.3475C= (p.Leu1159=) c.3469C= (p.Leu1157=) c.3430C= (p.Leu1144=) c.3418C= (p.Leu1140=) c.3361C= (p.Leu1121=) c.3337C= (p.Leu1113=) c.3331C= (p.Leu1111=) c.3313C= (p.Leu1105=) c.3259C= (p.Leu1087=) c.2566C= (p.Leu856=) c.2479C= (p.Leu827=) n.3755C= | |
17 | g.39727793C>G | CA399313263 | ERBB2 | c.3517C>G (p.Leu1173Val) c.3427C>G (p.Leu1143Val) c.2689C>G (p.Leu897Val) c.3472C>G (p.Leu1158Val) c.*3307C>G (n.*3307C>G) c.*96C>G (n.*96C>G) n.3841C>G c.3655C>G (p.Leu1219Val) c.3610C>G (p.Leu1204Val) c.3565C>G (p.Leu1189Val) c.3634C>G (p.Leu1212Val) c.3619C>G (p.Leu1207Val) c.3598C>G (p.Leu1200Val) c.3592C>G (p.Leu1198Val) c.3547C>G (p.Leu1183Val) c.3538C>G (p.Leu1180Val) c.3514C>G (p.Leu1172Val) c.3508C>G (p.Leu1170Val) c.3481C>G (p.Leu1161Val) c.3475C>G (p.Leu1159Val) c.3469C>G (p.Leu1157Val) c.3430C>G (p.Leu1144Val) c.3418C>G (p.Leu1140Val) c.3361C>G (p.Leu1121Val) c.3337C>G (p.Leu1113Val) c.3331C>G (p.Leu1111Val) c.3313C>G (p.Leu1105Val) c.3259C>G (p.Leu1087Val) c.2566C>G (p.Leu856Val) c.2479C>G (p.Leu827Val) n.3755C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727793C>T | CA399313266 | ERBB2 | c.3517C>T (p.Leu1173Phe) c.3427C>T (p.Leu1143Phe) c.2689C>T (p.Leu897Phe) c.3472C>T (p.Leu1158Phe) c.*3307C>T (n.*3307C>T) c.*96C>T (n.*96C>T) n.3841C>T c.3655C>T (p.Leu1219Phe) c.3610C>T (p.Leu1204Phe) c.3565C>T (p.Leu1189Phe) c.3634C>T (p.Leu1212Phe) c.3619C>T (p.Leu1207Phe) c.3598C>T (p.Leu1200Phe) c.3592C>T (p.Leu1198Phe) c.3547C>T (p.Leu1183Phe) c.3538C>T (p.Leu1180Phe) c.3514C>T (p.Leu1172Phe) c.3508C>T (p.Leu1170Phe) c.3481C>T (p.Leu1161Phe) c.3475C>T (p.Leu1159Phe) c.3469C>T (p.Leu1157Phe) c.3430C>T (p.Leu1144Phe) c.3418C>T (p.Leu1140Phe) c.3361C>T (p.Leu1121Phe) c.3337C>T (p.Leu1113Phe) c.3331C>T (p.Leu1111Phe) c.3313C>T (p.Leu1105Phe) c.3259C>T (p.Leu1087Phe) c.2566C>T (p.Leu856Phe) c.2479C>T (p.Leu827Phe) n.3755C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727794T>A | CA399313270 | ERBB2 | c.3518T>A (p.Leu1173His) c.3428T>A (p.Leu1143His) c.2690T>A (p.Leu897His) c.3473T>A (p.Leu1158His) c.*3308T>A (n.*3308T>A) c.*97T>A (n.*97T>A) n.3842T>A c.3656T>A (p.Leu1219His) c.3611T>A (p.Leu1204His) c.3566T>A (p.Leu1189His) c.3635T>A (p.Leu1212His) c.3620T>A (p.Leu1207His) c.3599T>A (p.Leu1200His) c.3593T>A (p.Leu1198His) c.3548T>A (p.Leu1183His) c.3539T>A (p.Leu1180His) c.3515T>A (p.Leu1172His) c.3509T>A (p.Leu1170His) c.3482T>A (p.Leu1161His) c.3476T>A (p.Leu1159His) c.3470T>A (p.Leu1157His) c.3431T>A (p.Leu1144His) c.3419T>A (p.Leu1140His) c.3362T>A (p.Leu1121His) c.3338T>A (p.Leu1113His) c.3332T>A (p.Leu1111His) c.3314T>A (p.Leu1105His) c.3260T>A (p.Leu1087His) c.2567T>A (p.Leu856His) c.2480T>A (p.Leu827His) n.3756T>A | dbSNP |
17 | g.39727794T>C | CA399313273 | ERBB2 | c.3518T>C (p.Leu1173Pro) c.3428T>C (p.Leu1143Pro) c.2690T>C (p.Leu897Pro) c.3473T>C (p.Leu1158Pro) c.*3308T>C (n.*3308T>C) c.*97T>C (n.*97T>C) n.3842T>C c.3656T>C (p.Leu1219Pro) c.3611T>C (p.Leu1204Pro) c.3566T>C (p.Leu1189Pro) c.3635T>C (p.Leu1212Pro) c.3620T>C (p.Leu1207Pro) c.3599T>C (p.Leu1200Pro) c.3593T>C (p.Leu1198Pro) c.3548T>C (p.Leu1183Pro) c.3539T>C (p.Leu1180Pro) c.3515T>C (p.Leu1172Pro) c.3509T>C (p.Leu1170Pro) c.3482T>C (p.Leu1161Pro) c.3476T>C (p.Leu1159Pro) c.3470T>C (p.Leu1157Pro) c.3431T>C (p.Leu1144Pro) c.3419T>C (p.Leu1140Pro) c.3362T>C (p.Leu1121Pro) c.3338T>C (p.Leu1113Pro) c.3332T>C (p.Leu1111Pro) c.3314T>C (p.Leu1105Pro) c.3260T>C (p.Leu1087Pro) c.2567T>C (p.Leu856Pro) c.2480T>C (p.Leu827Pro) n.3756T>C | dbSNP COSMIC |
17 | g.39727794T>G | CA399313277 | ERBB2 | c.3518T>G (p.Leu1173Arg) c.3428T>G (p.Leu1143Arg) c.2690T>G (p.Leu897Arg) c.3473T>G (p.Leu1158Arg) c.*3308T>G (n.*3308T>G) c.*97T>G (n.*97T>G) n.3842T>G c.3656T>G (p.Leu1219Arg) c.3611T>G (p.Leu1204Arg) c.3566T>G (p.Leu1189Arg) c.3635T>G (p.Leu1212Arg) c.3620T>G (p.Leu1207Arg) c.3599T>G (p.Leu1200Arg) c.3593T>G (p.Leu1198Arg) c.3548T>G (p.Leu1183Arg) c.3539T>G (p.Leu1180Arg) c.3515T>G (p.Leu1172Arg) c.3509T>G (p.Leu1170Arg) c.3482T>G (p.Leu1161Arg) c.3476T>G (p.Leu1159Arg) c.3470T>G (p.Leu1157Arg) c.3431T>G (p.Leu1144Arg) c.3419T>G (p.Leu1140Arg) c.3362T>G (p.Leu1121Arg) c.3338T>G (p.Leu1113Arg) c.3332T>G (p.Leu1111Arg) c.3314T>G (p.Leu1105Arg) c.3260T>G (p.Leu1087Arg) c.2567T>G (p.Leu856Arg) c.2480T>G (p.Leu827Arg) n.3756T>G | |
17 | g.39727795C>A | CA499890686 | ERBB2 | c.3519C>A (p.Leu1173=) c.3429C>A (p.Leu1143=) c.2691C>A (p.Leu897=) c.3474C>A (p.Leu1158=) c.*3309C>A (n.*3309C>A) c.*98C>A (n.*98C>A) n.3843C>A c.3657C>A (p.Leu1219=) c.3612C>A (p.Leu1204=) c.3567C>A (p.Leu1189=) c.3636C>A (p.Leu1212=) c.3621C>A (p.Leu1207=) c.3600C>A (p.Leu1200=) c.3594C>A (p.Leu1198=) c.3549C>A (p.Leu1183=) c.3540C>A (p.Leu1180=) c.3516C>A (p.Leu1172=) c.3510C>A (p.Leu1170=) c.3483C>A (p.Leu1161=) c.3477C>A (p.Leu1159=) c.3471C>A (p.Leu1157=) c.3432C>A (p.Leu1144=) c.3420C>A (p.Leu1140=) c.3363C>A (p.Leu1121=) c.3339C>A (p.Leu1113=) c.3333C>A (p.Leu1111=) c.3315C>A (p.Leu1105=) c.3261C>A (p.Leu1087=) c.2568C>A (p.Leu856=) c.2481C>A (p.Leu827=) n.3757C>A | dbSNP |
17 | g.39727795C= | CA2259229263 | ERBB2 | c.3519C= (p.Leu1173=) c.3429C= (p.Leu1143=) c.2691C= (p.Leu897=) c.3474C= (p.Leu1158=) c.*3309C= (n.*3309C=) c.*98C= (n.*98C=) n.3843C= c.3657C= (p.Leu1219=) c.3612C= (p.Leu1204=) c.3567C= (p.Leu1189=) c.3636C= (p.Leu1212=) c.3621C= (p.Leu1207=) c.3600C= (p.Leu1200=) c.3594C= (p.Leu1198=) c.3549C= (p.Leu1183=) c.3540C= (p.Leu1180=) c.3516C= (p.Leu1172=) c.3510C= (p.Leu1170=) c.3483C= (p.Leu1161=) c.3477C= (p.Leu1159=) c.3471C= (p.Leu1157=) c.3432C= (p.Leu1144=) c.3420C= (p.Leu1140=) c.3363C= (p.Leu1121=) c.3339C= (p.Leu1113=) c.3333C= (p.Leu1111=) c.3315C= (p.Leu1105=) c.3261C= (p.Leu1087=) c.2568C= (p.Leu856=) c.2481C= (p.Leu827=) n.3757C= | |
17 | g.39727795C>G | CA499890687 | ERBB2 | c.3519C>G (p.Leu1173=) c.3429C>G (p.Leu1143=) c.2691C>G (p.Leu897=) c.3474C>G (p.Leu1158=) c.*3309C>G (n.*3309C>G) c.*98C>G (n.*98C>G) n.3843C>G c.3657C>G (p.Leu1219=) c.3612C>G (p.Leu1204=) c.3567C>G (p.Leu1189=) c.3636C>G (p.Leu1212=) c.3621C>G (p.Leu1207=) c.3600C>G (p.Leu1200=) c.3594C>G (p.Leu1198=) c.3549C>G (p.Leu1183=) c.3540C>G (p.Leu1180=) c.3516C>G (p.Leu1172=) c.3510C>G (p.Leu1170=) c.3483C>G (p.Leu1161=) c.3477C>G (p.Leu1159=) c.3471C>G (p.Leu1157=) c.3432C>G (p.Leu1144=) c.3420C>G (p.Leu1140=) c.3363C>G (p.Leu1121=) c.3339C>G (p.Leu1113=) c.3333C>G (p.Leu1111=) c.3315C>G (p.Leu1105=) c.3261C>G (p.Leu1087=) c.2568C>G (p.Leu856=) c.2481C>G (p.Leu827=) n.3757C>G | dbSNP COSMIC |
17 | g.39727795C>T | CA8534575 | ERBB2 | c.3519C>T (p.Leu1173=) c.3429C>T (p.Leu1143=) c.2691C>T (p.Leu897=) c.3474C>T (p.Leu1158=) c.*3309C>T (n.*3309C>T) c.*98C>T (n.*98C>T) n.3843C>T c.3657C>T (p.Leu1219=) c.3612C>T (p.Leu1204=) c.3567C>T (p.Leu1189=) c.3636C>T (p.Leu1212=) c.3621C>T (p.Leu1207=) c.3600C>T (p.Leu1200=) c.3594C>T (p.Leu1198=) c.3549C>T (p.Leu1183=) c.3540C>T (p.Leu1180=) c.3516C>T (p.Leu1172=) c.3510C>T (p.Leu1170=) c.3483C>T (p.Leu1161=) c.3477C>T (p.Leu1159=) c.3471C>T (p.Leu1157=) c.3432C>T (p.Leu1144=) c.3420C>T (p.Leu1140=) c.3363C>T (p.Leu1121=) c.3339C>T (p.Leu1113=) c.3333C>T (p.Leu1111=) c.3315C>T (p.Leu1105=) c.3261C>T (p.Leu1087=) c.2568C>T (p.Leu856=) c.2481C>T (p.Leu827=) n.3757C>T | dbSNP ExAC gnomAD v2 |
17 | g.39727796T>A | CA399313289 | ERBB2 | c.3520T>A (p.Ser1174Thr) c.3430T>A (p.Ser1144Thr) c.2692T>A (p.Ser898Thr) c.3475T>A (p.Ser1159Thr) c.*3310T>A (n.*3310T>A) c.*99T>A (n.*99T>A) n.3844T>A c.3658T>A (p.Ser1220Thr) c.3613T>A (p.Ser1205Thr) c.3568T>A (p.Ser1190Thr) c.3637T>A (p.Ser1213Thr) c.3622T>A (p.Ser1208Thr) c.3601T>A (p.Ser1201Thr) c.3595T>A (p.Ser1199Thr) c.3550T>A (p.Ser1184Thr) c.3541T>A (p.Ser1181Thr) c.3517T>A (p.Ser1173Thr) c.3511T>A (p.Ser1171Thr) c.3484T>A (p.Ser1162Thr) c.3478T>A (p.Ser1160Thr) c.3472T>A (p.Ser1158Thr) c.3433T>A (p.Ser1145Thr) c.3421T>A (p.Ser1141Thr) c.3364T>A (p.Ser1122Thr) c.3340T>A (p.Ser1114Thr) c.3334T>A (p.Ser1112Thr) c.3316T>A (p.Ser1106Thr) c.3262T>A (p.Ser1088Thr) c.2569T>A (p.Ser857Thr) c.2482T>A (p.Ser828Thr) n.3758T>A | |
17 | g.39727796T>C | CA399313283 | ERBB2 | c.3520T>C (p.Ser1174Pro) c.3430T>C (p.Ser1144Pro) c.2692T>C (p.Ser898Pro) c.3475T>C (p.Ser1159Pro) c.*3310T>C (n.*3310T>C) c.*99T>C (n.*99T>C) n.3844T>C c.3658T>C (p.Ser1220Pro) c.3613T>C (p.Ser1205Pro) c.3568T>C (p.Ser1190Pro) c.3637T>C (p.Ser1213Pro) c.3622T>C (p.Ser1208Pro) c.3601T>C (p.Ser1201Pro) c.3595T>C (p.Ser1199Pro) c.3550T>C (p.Ser1184Pro) c.3541T>C (p.Ser1181Pro) c.3517T>C (p.Ser1173Pro) c.3511T>C (p.Ser1171Pro) c.3484T>C (p.Ser1162Pro) c.3478T>C (p.Ser1160Pro) c.3472T>C (p.Ser1158Pro) c.3433T>C (p.Ser1145Pro) c.3421T>C (p.Ser1141Pro) c.3364T>C (p.Ser1122Pro) c.3340T>C (p.Ser1114Pro) c.3334T>C (p.Ser1112Pro) c.3316T>C (p.Ser1106Pro) c.3262T>C (p.Ser1088Pro) c.2569T>C (p.Ser857Pro) c.2482T>C (p.Ser828Pro) n.3758T>C | |
17 | g.39727796T>G | CA399313286 | ERBB2 | c.3520T>G (p.Ser1174Ala) c.3430T>G (p.Ser1144Ala) c.2692T>G (p.Ser898Ala) c.3475T>G (p.Ser1159Ala) c.*3310T>G (n.*3310T>G) c.*99T>G (n.*99T>G) n.3844T>G c.3658T>G (p.Ser1220Ala) c.3613T>G (p.Ser1205Ala) c.3568T>G (p.Ser1190Ala) c.3637T>G (p.Ser1213Ala) c.3622T>G (p.Ser1208Ala) c.3601T>G (p.Ser1201Ala) c.3595T>G (p.Ser1199Ala) c.3550T>G (p.Ser1184Ala) c.3541T>G (p.Ser1181Ala) c.3517T>G (p.Ser1173Ala) c.3511T>G (p.Ser1171Ala) c.3484T>G (p.Ser1162Ala) c.3478T>G (p.Ser1160Ala) c.3472T>G (p.Ser1158Ala) c.3433T>G (p.Ser1145Ala) c.3421T>G (p.Ser1141Ala) c.3364T>G (p.Ser1122Ala) c.3340T>G (p.Ser1114Ala) c.3334T>G (p.Ser1112Ala) c.3316T>G (p.Ser1106Ala) c.3262T>G (p.Ser1088Ala) c.2569T>G (p.Ser857Ala) c.2482T>G (p.Ser828Ala) n.3758T>G | |
17 | g.39727797C>A | CA399313297 | ERBB2 | c.3521C>A (p.Ser1174Tyr) c.3431C>A (p.Ser1144Tyr) c.2693C>A (p.Ser898Tyr) c.3476C>A (p.Ser1159Tyr) c.*3311C>A (n.*3311C>A) c.*100C>A (n.*100C>A) n.3845C>A c.3659C>A (p.Ser1220Tyr) c.3614C>A (p.Ser1205Tyr) c.3569C>A (p.Ser1190Tyr) c.3638C>A (p.Ser1213Tyr) c.3623C>A (p.Ser1208Tyr) c.3602C>A (p.Ser1201Tyr) c.3596C>A (p.Ser1199Tyr) c.3551C>A (p.Ser1184Tyr) c.3542C>A (p.Ser1181Tyr) c.3518C>A (p.Ser1173Tyr) c.3512C>A (p.Ser1171Tyr) c.3485C>A (p.Ser1162Tyr) c.3479C>A (p.Ser1160Tyr) c.3473C>A (p.Ser1158Tyr) c.3434C>A (p.Ser1145Tyr) c.3422C>A (p.Ser1141Tyr) c.3365C>A (p.Ser1122Tyr) c.3341C>A (p.Ser1114Tyr) c.3335C>A (p.Ser1112Tyr) c.3317C>A (p.Ser1106Tyr) c.3263C>A (p.Ser1088Tyr) c.2570C>A (p.Ser857Tyr) c.2483C>A (p.Ser828Tyr) n.3759C>A | dbSNP |
17 | g.39727797C= | CA2259229264 | ERBB2 | c.3521C= (p.Ser1174=) c.3431C= (p.Ser1144=) c.2693C= (p.Ser898=) c.3476C= (p.Ser1159=) c.*3311C= (n.*3311C=) c.*100C= (n.*100C=) n.3845C= c.3659C= (p.Ser1220=) c.3614C= (p.Ser1205=) c.3569C= (p.Ser1190=) c.3638C= (p.Ser1213=) c.3623C= (p.Ser1208=) c.3602C= (p.Ser1201=) c.3596C= (p.Ser1199=) c.3551C= (p.Ser1184=) c.3542C= (p.Ser1181=) c.3518C= (p.Ser1173=) c.3512C= (p.Ser1171=) c.3485C= (p.Ser1162=) c.3479C= (p.Ser1160=) c.3473C= (p.Ser1158=) c.3434C= (p.Ser1145=) c.3422C= (p.Ser1141=) c.3365C= (p.Ser1122=) c.3341C= (p.Ser1114=) c.3335C= (p.Ser1112=) c.3317C= (p.Ser1106=) c.3263C= (p.Ser1088=) c.2570C= (p.Ser857=) c.2483C= (p.Ser828=) n.3759C= | |
17 | g.39727797C>G | CA399313300 | ERBB2 | c.3521C>G (p.Ser1174Cys) c.3431C>G (p.Ser1144Cys) c.2693C>G (p.Ser898Cys) c.3476C>G (p.Ser1159Cys) c.*3311C>G (n.*3311C>G) c.*100C>G (n.*100C>G) n.3845C>G c.3659C>G (p.Ser1220Cys) c.3614C>G (p.Ser1205Cys) c.3569C>G (p.Ser1190Cys) c.3638C>G (p.Ser1213Cys) c.3623C>G (p.Ser1208Cys) c.3602C>G (p.Ser1201Cys) c.3596C>G (p.Ser1199Cys) c.3551C>G (p.Ser1184Cys) c.3542C>G (p.Ser1181Cys) c.3518C>G (p.Ser1173Cys) c.3512C>G (p.Ser1171Cys) c.3485C>G (p.Ser1162Cys) c.3479C>G (p.Ser1160Cys) c.3473C>G (p.Ser1158Cys) c.3434C>G (p.Ser1145Cys) c.3422C>G (p.Ser1141Cys) c.3365C>G (p.Ser1122Cys) c.3341C>G (p.Ser1114Cys) c.3335C>G (p.Ser1112Cys) c.3317C>G (p.Ser1106Cys) c.3263C>G (p.Ser1088Cys) c.2570C>G (p.Ser857Cys) c.2483C>G (p.Ser828Cys) n.3759C>G | ClinVar dbSNP gnomAD v4 |
17 | g.39727797C>T | CA399313302 | ERBB2 | c.3521C>T (p.Ser1174Phe) c.3431C>T (p.Ser1144Phe) c.2693C>T (p.Ser898Phe) c.3476C>T (p.Ser1159Phe) c.*3311C>T (n.*3311C>T) c.*100C>T (n.*100C>T) n.3845C>T c.3659C>T (p.Ser1220Phe) c.3614C>T (p.Ser1205Phe) c.3569C>T (p.Ser1190Phe) c.3638C>T (p.Ser1213Phe) c.3623C>T (p.Ser1208Phe) c.3602C>T (p.Ser1201Phe) c.3596C>T (p.Ser1199Phe) c.3551C>T (p.Ser1184Phe) c.3542C>T (p.Ser1181Phe) c.3518C>T (p.Ser1173Phe) c.3512C>T (p.Ser1171Phe) c.3485C>T (p.Ser1162Phe) c.3479C>T (p.Ser1160Phe) c.3473C>T (p.Ser1158Phe) c.3434C>T (p.Ser1145Phe) c.3422C>T (p.Ser1141Phe) c.3365C>T (p.Ser1122Phe) c.3341C>T (p.Ser1114Phe) c.3335C>T (p.Ser1112Phe) c.3317C>T (p.Ser1106Phe) c.3263C>T (p.Ser1088Phe) c.2570C>T (p.Ser857Phe) c.2483C>T (p.Ser828Phe) n.3759C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727798C>A | CA499890693 | ERBB2 | c.3522C>A (p.Ser1174=) c.3432C>A (p.Ser1144=) c.2694C>A (p.Ser898=) c.3477C>A (p.Ser1159=) c.*3312C>A (n.*3312C>A) c.*101C>A (n.*101C>A) n.3846C>A c.3660C>A (p.Ser1220=) c.3615C>A (p.Ser1205=) c.3570C>A (p.Ser1190=) c.3639C>A (p.Ser1213=) c.3624C>A (p.Ser1208=) c.3603C>A (p.Ser1201=) c.3597C>A (p.Ser1199=) c.3552C>A (p.Ser1184=) c.3543C>A (p.Ser1181=) c.3519C>A (p.Ser1173=) c.3513C>A (p.Ser1171=) c.3486C>A (p.Ser1162=) c.3480C>A (p.Ser1160=) c.3474C>A (p.Ser1158=) c.3435C>A (p.Ser1145=) c.3423C>A (p.Ser1141=) c.3366C>A (p.Ser1122=) c.3342C>A (p.Ser1114=) c.3336C>A (p.Ser1112=) c.3318C>A (p.Ser1106=) c.3264C>A (p.Ser1088=) c.2571C>A (p.Ser857=) c.2484C>A (p.Ser828=) n.3760C>A | dbSNP |
17 | g.39727798C>G | CA499890694 | ERBB2 | c.3522C>G (p.Ser1174=) c.3432C>G (p.Ser1144=) c.2694C>G (p.Ser898=) c.3477C>G (p.Ser1159=) c.*3312C>G (n.*3312C>G) c.*101C>G (n.*101C>G) n.3846C>G c.3660C>G (p.Ser1220=) c.3615C>G (p.Ser1205=) c.3570C>G (p.Ser1190=) c.3639C>G (p.Ser1213=) c.3624C>G (p.Ser1208=) c.3603C>G (p.Ser1201=) c.3597C>G (p.Ser1199=) c.3552C>G (p.Ser1184=) c.3543C>G (p.Ser1181=) c.3519C>G (p.Ser1173=) c.3513C>G (p.Ser1171=) c.3486C>G (p.Ser1162=) c.3480C>G (p.Ser1160=) c.3474C>G (p.Ser1158=) c.3435C>G (p.Ser1145=) c.3423C>G (p.Ser1141=) c.3366C>G (p.Ser1122=) c.3342C>G (p.Ser1114=) c.3336C>G (p.Ser1112=) c.3318C>G (p.Ser1106=) c.3264C>G (p.Ser1088=) c.2571C>G (p.Ser857=) c.2484C>G (p.Ser828=) n.3760C>G | dbSNP |
17 | g.39727798C>T | CA499890696 | ERBB2 | c.3522C>T (p.Ser1174=) c.3432C>T (p.Ser1144=) c.2694C>T (p.Ser898=) c.3477C>T (p.Ser1159=) c.*3312C>T (n.*3312C>T) c.*101C>T (n.*101C>T) n.3846C>T c.3660C>T (p.Ser1220=) c.3615C>T (p.Ser1205=) c.3570C>T (p.Ser1190=) c.3639C>T (p.Ser1213=) c.3624C>T (p.Ser1208=) c.3603C>T (p.Ser1201=) c.3597C>T (p.Ser1199=) c.3552C>T (p.Ser1184=) c.3543C>T (p.Ser1181=) c.3519C>T (p.Ser1173=) c.3513C>T (p.Ser1171=) c.3486C>T (p.Ser1162=) c.3480C>T (p.Ser1160=) c.3474C>T (p.Ser1158=) c.3435C>T (p.Ser1145=) c.3423C>T (p.Ser1141=) c.3366C>T (p.Ser1122=) c.3342C>T (p.Ser1114=) c.3336C>T (p.Ser1112=) c.3318C>T (p.Ser1106=) c.3264C>T (p.Ser1088=) c.2571C>T (p.Ser857=) c.2484C>T (p.Ser828=) n.3760C>T | dbSNP gnomAD v4 |
17 | g.39727799C>A | CA399313304 | ERBB2 | c.3523C>A (p.Pro1175Thr) c.3433C>A (p.Pro1145Thr) c.2695C>A (p.Pro899Thr) c.3478C>A (p.Pro1160Thr) c.*3313C>A (n.*3313C>A) c.*102C>A (n.*102C>A) n.3847C>A c.3661C>A (p.Pro1221Thr) c.3616C>A (p.Pro1206Thr) c.3571C>A (p.Pro1191Thr) c.3640C>A (p.Pro1214Thr) c.3625C>A (p.Pro1209Thr) c.3604C>A (p.Pro1202Thr) c.3598C>A (p.Pro1200Thr) c.3553C>A (p.Pro1185Thr) c.3544C>A (p.Pro1182Thr) c.3520C>A (p.Pro1174Thr) c.3514C>A (p.Pro1172Thr) c.3487C>A (p.Pro1163Thr) c.3481C>A (p.Pro1161Thr) c.3475C>A (p.Pro1159Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3367C>A (p.Pro1123Thr) c.3343C>A (p.Pro1115Thr) c.3337C>A (p.Pro1113Thr) c.3319C>A (p.Pro1107Thr) c.3265C>A (p.Pro1089Thr) c.2572C>A (p.Pro858Thr) c.2485C>A (p.Pro829Thr) n.3761C>A | dbSNP |
17 | g.39727799C= | CA2259229265 | ERBB2 | c.3523C= (p.Pro1175=) c.3433C= (p.Pro1145=) c.2695C= (p.Pro899=) c.3478C= (p.Pro1160=) c.*3313C= (n.*3313C=) c.*102C= (n.*102C=) n.3847C= c.3661C= (p.Pro1221=) c.3616C= (p.Pro1206=) c.3571C= (p.Pro1191=) c.3640C= (p.Pro1214=) c.3625C= (p.Pro1209=) c.3604C= (p.Pro1202=) c.3598C= (p.Pro1200=) c.3553C= (p.Pro1185=) c.3544C= (p.Pro1182=) c.3520C= (p.Pro1174=) c.3514C= (p.Pro1172=) c.3487C= (p.Pro1163=) c.3481C= (p.Pro1161=) c.3475C= (p.Pro1159=) c.3436C= (p.Pro1146=) c.3424C= (p.Pro1142=) c.3367C= (p.Pro1123=) c.3343C= (p.Pro1115=) c.3337C= (p.Pro1113=) c.3319C= (p.Pro1107=) c.3265C= (p.Pro1089=) c.2572C= (p.Pro858=) c.2485C= (p.Pro829=) n.3761C= | |
17 | g.39727799C>G | CA399313307 | ERBB2 | c.3523C>G (p.Pro1175Ala) c.3433C>G (p.Pro1145Ala) c.2695C>G (p.Pro899Ala) c.3478C>G (p.Pro1160Ala) c.*3313C>G (n.*3313C>G) c.*102C>G (n.*102C>G) n.3847C>G c.3661C>G (p.Pro1221Ala) c.3616C>G (p.Pro1206Ala) c.3571C>G (p.Pro1191Ala) c.3640C>G (p.Pro1214Ala) c.3625C>G (p.Pro1209Ala) c.3604C>G (p.Pro1202Ala) c.3598C>G (p.Pro1200Ala) c.3553C>G (p.Pro1185Ala) c.3544C>G (p.Pro1182Ala) c.3520C>G (p.Pro1174Ala) c.3514C>G (p.Pro1172Ala) c.3487C>G (p.Pro1163Ala) c.3481C>G (p.Pro1161Ala) c.3475C>G (p.Pro1159Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3367C>G (p.Pro1123Ala) c.3343C>G (p.Pro1115Ala) c.3337C>G (p.Pro1113Ala) c.3319C>G (p.Pro1107Ala) c.3265C>G (p.Pro1089Ala) c.2572C>G (p.Pro858Ala) c.2485C>G (p.Pro829Ala) n.3761C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727799C>T | CA399313310 | ERBB2 | c.3523C>T (p.Pro1175Ser) c.3433C>T (p.Pro1145Ser) c.2695C>T (p.Pro899Ser) c.3478C>T (p.Pro1160Ser) c.*3313C>T (n.*3313C>T) c.*102C>T (n.*102C>T) n.3847C>T c.3661C>T (p.Pro1221Ser) c.3616C>T (p.Pro1206Ser) c.3571C>T (p.Pro1191Ser) c.3640C>T (p.Pro1214Ser) c.3625C>T (p.Pro1209Ser) c.3604C>T (p.Pro1202Ser) c.3598C>T (p.Pro1200Ser) c.3553C>T (p.Pro1185Ser) c.3544C>T (p.Pro1182Ser) c.3520C>T (p.Pro1174Ser) c.3514C>T (p.Pro1172Ser) c.3487C>T (p.Pro1163Ser) c.3481C>T (p.Pro1161Ser) c.3475C>T (p.Pro1159Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3367C>T (p.Pro1123Ser) c.3343C>T (p.Pro1115Ser) c.3337C>T (p.Pro1113Ser) c.3319C>T (p.Pro1107Ser) c.3265C>T (p.Pro1089Ser) c.2572C>T (p.Pro858Ser) c.2485C>T (p.Pro829Ser) n.3761C>T | dbSNP |
17 | g.39727800C>A | CA399313314 | ERBB2 | c.3524C>A (p.Pro1175Gln) c.3434C>A (p.Pro1145Gln) c.2696C>A (p.Pro899Gln) c.3479C>A (p.Pro1160Gln) c.*3314C>A (n.*3314C>A) c.*103C>A (n.*103C>A) n.3848C>A c.3662C>A (p.Pro1221Gln) c.3617C>A (p.Pro1206Gln) c.3572C>A (p.Pro1191Gln) c.3641C>A (p.Pro1214Gln) c.3626C>A (p.Pro1209Gln) c.3605C>A (p.Pro1202Gln) c.3599C>A (p.Pro1200Gln) c.3554C>A (p.Pro1185Gln) c.3545C>A (p.Pro1182Gln) c.3521C>A (p.Pro1174Gln) c.3515C>A (p.Pro1172Gln) c.3488C>A (p.Pro1163Gln) c.3482C>A (p.Pro1161Gln) c.3476C>A (p.Pro1159Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3368C>A (p.Pro1123Gln) c.3344C>A (p.Pro1115Gln) c.3338C>A (p.Pro1113Gln) c.3320C>A (p.Pro1107Gln) c.3266C>A (p.Pro1089Gln) c.2573C>A (p.Pro858Gln) c.2486C>A (p.Pro829Gln) n.3762C>A | dbSNP |
17 | g.39727800C= | CA2259229266 | ERBB2 | c.3524C= (p.Pro1175=) c.3434C= (p.Pro1145=) c.2696C= (p.Pro899=) c.3479C= (p.Pro1160=) c.*3314C= (n.*3314C=) c.*103C= (n.*103C=) n.3848C= c.3662C= (p.Pro1221=) c.3617C= (p.Pro1206=) c.3572C= (p.Pro1191=) c.3641C= (p.Pro1214=) c.3626C= (p.Pro1209=) c.3605C= (p.Pro1202=) c.3599C= (p.Pro1200=) c.3554C= (p.Pro1185=) c.3545C= (p.Pro1182=) c.3521C= (p.Pro1174=) c.3515C= (p.Pro1172=) c.3488C= (p.Pro1163=) c.3482C= (p.Pro1161=) c.3476C= (p.Pro1159=) c.3437C= (p.Pro1146=) c.3425C= (p.Pro1142=) c.3368C= (p.Pro1123=) c.3344C= (p.Pro1115=) c.3338C= (p.Pro1113=) c.3320C= (p.Pro1107=) c.3266C= (p.Pro1089=) c.2573C= (p.Pro858=) c.2486C= (p.Pro829=) n.3762C= | |
17 | g.39727800C>G | CA399313317 | ERBB2 | c.3524C>G (p.Pro1175Arg) c.3434C>G (p.Pro1145Arg) c.2696C>G (p.Pro899Arg) c.3479C>G (p.Pro1160Arg) c.*3314C>G (n.*3314C>G) c.*103C>G (n.*103C>G) n.3848C>G c.3662C>G (p.Pro1221Arg) c.3617C>G (p.Pro1206Arg) c.3572C>G (p.Pro1191Arg) c.3641C>G (p.Pro1214Arg) c.3626C>G (p.Pro1209Arg) c.3605C>G (p.Pro1202Arg) c.3599C>G (p.Pro1200Arg) c.3554C>G (p.Pro1185Arg) c.3545C>G (p.Pro1182Arg) c.3521C>G (p.Pro1174Arg) c.3515C>G (p.Pro1172Arg) c.3488C>G (p.Pro1163Arg) c.3482C>G (p.Pro1161Arg) c.3476C>G (p.Pro1159Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3368C>G (p.Pro1123Arg) c.3344C>G (p.Pro1115Arg) c.3338C>G (p.Pro1113Arg) c.3320C>G (p.Pro1107Arg) c.3266C>G (p.Pro1089Arg) c.2573C>G (p.Pro858Arg) c.2486C>G (p.Pro829Arg) n.3762C>G | dbSNP COSMIC |
17 | g.39727800C>T | CA399313320 | ERBB2 | c.3524C>T (p.Pro1175Leu) c.3434C>T (p.Pro1145Leu) c.2696C>T (p.Pro899Leu) c.3479C>T (p.Pro1160Leu) c.*3314C>T (n.*3314C>T) c.*103C>T (n.*103C>T) n.3848C>T c.3662C>T (p.Pro1221Leu) c.3617C>T (p.Pro1206Leu) c.3572C>T (p.Pro1191Leu) c.3641C>T (p.Pro1214Leu) c.3626C>T (p.Pro1209Leu) c.3605C>T (p.Pro1202Leu) c.3599C>T (p.Pro1200Leu) c.3554C>T (p.Pro1185Leu) c.3545C>T (p.Pro1182Leu) c.3521C>T (p.Pro1174Leu) c.3515C>T (p.Pro1172Leu) c.3488C>T (p.Pro1163Leu) c.3482C>T (p.Pro1161Leu) c.3476C>T (p.Pro1159Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3368C>T (p.Pro1123Leu) c.3344C>T (p.Pro1115Leu) c.3338C>T (p.Pro1113Leu) c.3320C>T (p.Pro1107Leu) c.3266C>T (p.Pro1089Leu) c.2573C>T (p.Pro858Leu) c.2486C>T (p.Pro829Leu) n.3762C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727801A= | CA2259229268 | ERBB2 | c.3525A= (p.Pro1175=) c.3435A= (p.Pro1145=) c.2697A= (p.Pro899=) c.3480A= (p.Pro1160=) c.*3315A= (n.*3315A=) c.*104A= (n.*104A=) n.3849A= c.3663A= (p.Pro1221=) c.3618A= (p.Pro1206=) c.3573A= (p.Pro1191=) c.3642A= (p.Pro1214=) c.3627A= (p.Pro1209=) c.3606A= (p.Pro1202=) c.3600A= (p.Pro1200=) c.3555A= (p.Pro1185=) c.3546A= (p.Pro1182=) c.3522A= (p.Pro1174=) c.3516A= (p.Pro1172=) c.3489A= (p.Pro1163=) c.3483A= (p.Pro1161=) c.3477A= (p.Pro1159=) c.3438A= (p.Pro1146=) c.3426A= (p.Pro1142=) c.3369A= (p.Pro1123=) c.3345A= (p.Pro1115=) c.3339A= (p.Pro1113=) c.3321A= (p.Pro1107=) c.3267A= (p.Pro1089=) c.2574A= (p.Pro858=) c.2487A= (p.Pro829=) n.3763A= | |
17 | g.39727801A>C | CA499890700 | ERBB2 | c.3525A>C (p.Pro1175=) c.3435A>C (p.Pro1145=) c.2697A>C (p.Pro899=) c.3480A>C (p.Pro1160=) c.*3315A>C (n.*3315A>C) c.*104A>C (n.*104A>C) n.3849A>C c.3663A>C (p.Pro1221=) c.3618A>C (p.Pro1206=) c.3573A>C (p.Pro1191=) c.3642A>C (p.Pro1214=) c.3627A>C (p.Pro1209=) c.3606A>C (p.Pro1202=) c.3600A>C (p.Pro1200=) c.3555A>C (p.Pro1185=) c.3546A>C (p.Pro1182=) c.3522A>C (p.Pro1174=) c.3516A>C (p.Pro1172=) c.3489A>C (p.Pro1163=) c.3483A>C (p.Pro1161=) c.3477A>C (p.Pro1159=) c.3438A>C (p.Pro1146=) c.3426A>C (p.Pro1142=) c.3369A>C (p.Pro1123=) c.3345A>C (p.Pro1115=) c.3339A>C (p.Pro1113=) c.3321A>C (p.Pro1107=) c.3267A>C (p.Pro1089=) c.2574A>C (p.Pro858=) c.2487A>C (p.Pro829=) n.3763A>C | dbSNP |
17 | g.39727801A>G | CA499890701 | ERBB2 | c.3525A>G (p.Pro1175=) c.3435A>G (p.Pro1145=) c.2697A>G (p.Pro899=) c.3480A>G (p.Pro1160=) c.*3315A>G (n.*3315A>G) c.*104A>G (n.*104A>G) n.3849A>G c.3663A>G (p.Pro1221=) c.3618A>G (p.Pro1206=) c.3573A>G (p.Pro1191=) c.3642A>G (p.Pro1214=) c.3627A>G (p.Pro1209=) c.3606A>G (p.Pro1202=) c.3600A>G (p.Pro1200=) c.3555A>G (p.Pro1185=) c.3546A>G (p.Pro1182=) c.3522A>G (p.Pro1174=) c.3516A>G (p.Pro1172=) c.3489A>G (p.Pro1163=) c.3483A>G (p.Pro1161=) c.3477A>G (p.Pro1159=) c.3438A>G (p.Pro1146=) c.3426A>G (p.Pro1142=) c.3369A>G (p.Pro1123=) c.3345A>G (p.Pro1115=) c.3339A>G (p.Pro1113=) c.3321A>G (p.Pro1107=) c.3267A>G (p.Pro1089=) c.2574A>G (p.Pro858=) c.2487A>G (p.Pro829=) n.3763A>G | dbSNP gnomAD v4 |
17 | g.39727801A>T | CA499890702 | ERBB2 | c.3525A>T (p.Pro1175=) c.3435A>T (p.Pro1145=) c.2697A>T (p.Pro899=) c.3480A>T (p.Pro1160=) c.*3315A>T (n.*3315A>T) c.*104A>T (n.*104A>T) n.3849A>T c.3663A>T (p.Pro1221=) c.3618A>T (p.Pro1206=) c.3573A>T (p.Pro1191=) c.3642A>T (p.Pro1214=) c.3627A>T (p.Pro1209=) c.3606A>T (p.Pro1202=) c.3600A>T (p.Pro1200=) c.3555A>T (p.Pro1185=) c.3546A>T (p.Pro1182=) c.3522A>T (p.Pro1174=) c.3516A>T (p.Pro1172=) c.3489A>T (p.Pro1163=) c.3483A>T (p.Pro1161=) c.3477A>T (p.Pro1159=) c.3438A>T (p.Pro1146=) c.3426A>T (p.Pro1142=) c.3369A>T (p.Pro1123=) c.3345A>T (p.Pro1115=) c.3339A>T (p.Pro1113=) c.3321A>T (p.Pro1107=) c.3267A>T (p.Pro1089=) c.2574A>T (p.Pro858=) c.2487A>T (p.Pro829=) n.3763A>T | |
17 | g.39727801_39727802delinsAG | CA2259229267 | ERBB2 | c.3525_3526delinsAG (p.Pro1175=) c.3435_3436delinsAG (p.Pro1145=) c.2697_2698delinsAG (p.Pro899=) c.3480_3481delinsAG (p.Pro1160=) c.*3315_*3316delinsAG (n.*3315_*3316delinsAG) c.*104_*105delinsAG (n.*104_*105delinsAG) n.3849_3850delinsAG c.3663_3664delinsAG (p.Pro1221=) c.3618_3619delinsAG (p.Pro1206=) c.3573_3574delinsAG (p.Pro1191=) c.3642_3643delinsAG (p.Pro1214=) c.3627_3628delinsAG (p.Pro1209=) c.3606_3607delinsAG (p.Pro1202=) c.3600_3601delinsAG (p.Pro1200=) c.3555_3556delinsAG (p.Pro1185=) c.3546_3547delinsAG (p.Pro1182=) c.3522_3523delinsAG (p.Pro1174=) c.3516_3517delinsAG (p.Pro1172=) c.3489_3490delinsAG (p.Pro1163=) c.3483_3484delinsAG (p.Pro1161=) c.3477_3478delinsAG (p.Pro1159=) c.3438_3439delinsAG (p.Pro1146=) c.3426_3427delinsAG (p.Pro1142=) c.3369_3370delinsAG (p.Pro1123=) c.3345_3346delinsAG (p.Pro1115=) c.3339_3340delinsAG (p.Pro1113=) c.3321_3322delinsAG (p.Pro1107=) c.3267_3268delinsAG (p.Pro1089=) c.2574_2575delinsAG (p.Pro858=) c.2487_2488delinsAG (p.Pro829=) n.3763_3764delinsAG | |
17 | g.39727802G>A | CA399313324 | ERBB2 | c.3526G>A (p.Gly1176Arg) c.3436G>A (p.Gly1146Arg) c.2698G>A (p.Gly900Arg) c.3481G>A (p.Gly1161Arg) c.*3316G>A (n.*3316G>A) c.*105G>A (n.*105G>A) n.3850G>A c.3664G>A (p.Gly1222Arg) c.3619G>A (p.Gly1207Arg) c.3574G>A (p.Gly1192Arg) c.3643G>A (p.Gly1215Arg) c.3628G>A (p.Gly1210Arg) c.3607G>A (p.Gly1203Arg) c.3601G>A (p.Gly1201Arg) c.3556G>A (p.Gly1186Arg) c.3547G>A (p.Gly1183Arg) c.3523G>A (p.Gly1175Arg) c.3517G>A (p.Gly1173Arg) c.3490G>A (p.Gly1164Arg) c.3484G>A (p.Gly1162Arg) c.3478G>A (p.Gly1160Arg) c.3439G>A (p.Gly1147Arg) c.3427G>A (p.Gly1143Arg) c.3370G>A (p.Gly1124Arg) c.3346G>A (p.Gly1116Arg) c.3340G>A (p.Gly1114Arg) c.3322G>A (p.Gly1108Arg) c.3268G>A (p.Gly1090Arg) c.2575G>A (p.Gly859Arg) c.2488G>A (p.Gly830Arg) n.3764G>A | dbSNP |
17 | g.39727802G>C | CA399313326 | ERBB2 | c.3526G>C (p.Gly1176Arg) c.3436G>C (p.Gly1146Arg) c.2698G>C (p.Gly900Arg) c.3481G>C (p.Gly1161Arg) c.*3316G>C (n.*3316G>C) c.*105G>C (n.*105G>C) n.3850G>C c.3664G>C (p.Gly1222Arg) c.3619G>C (p.Gly1207Arg) c.3574G>C (p.Gly1192Arg) c.3643G>C (p.Gly1215Arg) c.3628G>C (p.Gly1210Arg) c.3607G>C (p.Gly1203Arg) c.3601G>C (p.Gly1201Arg) c.3556G>C (p.Gly1186Arg) c.3547G>C (p.Gly1183Arg) c.3523G>C (p.Gly1175Arg) c.3517G>C (p.Gly1173Arg) c.3490G>C (p.Gly1164Arg) c.3484G>C (p.Gly1162Arg) c.3478G>C (p.Gly1160Arg) c.3439G>C (p.Gly1147Arg) c.3427G>C (p.Gly1143Arg) c.3370G>C (p.Gly1124Arg) c.3346G>C (p.Gly1116Arg) c.3340G>C (p.Gly1114Arg) c.3322G>C (p.Gly1108Arg) c.3268G>C (p.Gly1090Arg) c.2575G>C (p.Gly859Arg) c.2488G>C (p.Gly830Arg) n.3764G>C | dbSNP |
17 | g.39727802G>T | CA399313330 | ERBB2 | c.3526G>T (p.Gly1176Trp) c.3436G>T (p.Gly1146Trp) c.2698G>T (p.Gly900Trp) c.3481G>T (p.Gly1161Trp) c.*3316G>T (n.*3316G>T) c.*105G>T (n.*105G>T) n.3850G>T c.3664G>T (p.Gly1222Trp) c.3619G>T (p.Gly1207Trp) c.3574G>T (p.Gly1192Trp) c.3643G>T (p.Gly1215Trp) c.3628G>T (p.Gly1210Trp) c.3607G>T (p.Gly1203Trp) c.3601G>T (p.Gly1201Trp) c.3556G>T (p.Gly1186Trp) c.3547G>T (p.Gly1183Trp) c.3523G>T (p.Gly1175Trp) c.3517G>T (p.Gly1173Trp) c.3490G>T (p.Gly1164Trp) c.3484G>T (p.Gly1162Trp) c.3478G>T (p.Gly1160Trp) c.3439G>T (p.Gly1147Trp) c.3427G>T (p.Gly1143Trp) c.3370G>T (p.Gly1124Trp) c.3346G>T (p.Gly1116Trp) c.3340G>T (p.Gly1114Trp) c.3322G>T (p.Gly1108Trp) c.3268G>T (p.Gly1090Trp) c.2575G>T (p.Gly859Trp) c.2488G>T (p.Gly830Trp) n.3764G>T | dbSNP |
17 | g.39727804del | CA626209437 | ERBB2 | c.3528del (p.Lys1177ArgfsTer21) c.3438del (p.Lys1147ArgfsTer21) c.2700del (p.Lys901ArgfsTer21) c.3483del (p.Lys1162ArgfsTer21) c.*3318del (n.*3318del) c.*107del (n.*107del) n.3852del c.3666del (p.Lys1223ArgfsTer21) c.3621del (p.Lys1208ArgfsTer21) c.3576del (p.Lys1193ArgfsTer21) c.3645del (p.Lys1216ArgfsTer21) c.3630del (p.Lys1211ArgfsTer21) c.3609del (p.Lys1204ArgfsTer21) c.3603del (p.Lys1202ArgfsTer21) c.3558del (p.Lys1187ArgfsTer21) c.3549del (p.Lys1184ArgfsTer21) c.3525del (p.Lys1176ArgfsTer21) c.3519del (p.Lys1174ArgfsTer21) c.3492del (p.Lys1165ArgfsTer21) c.3486del (p.Lys1163ArgfsTer21) c.3480del (p.Lys1161ArgfsTer21) c.3441del (p.Lys1148ArgfsTer21) c.3429del (p.Lys1144ArgfsTer21) c.3372del (p.Lys1125ArgfsTer21) c.3348del (p.Lys1117ArgfsTer21) c.3342del (p.Lys1115ArgfsTer21) c.3324del (p.Lys1109ArgfsTer21) c.3270del (p.Lys1091ArgfsTer21) c.2577del (p.Lys860ArgfsTer21) c.2490del (p.Lys831ArgfsTer21) n.3766del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727803G>A | CA399313337 | ERBB2 | c.3527G>A (p.Gly1176Glu) c.3437G>A (p.Gly1146Glu) c.2699G>A (p.Gly900Glu) c.3482G>A (p.Gly1161Glu) c.*3317G>A (n.*3317G>A) c.*106G>A (n.*106G>A) n.3851G>A c.3665G>A (p.Gly1222Glu) c.3620G>A (p.Gly1207Glu) c.3575G>A (p.Gly1192Glu) c.3644G>A (p.Gly1215Glu) c.3629G>A (p.Gly1210Glu) c.3608G>A (p.Gly1203Glu) c.3602G>A (p.Gly1201Glu) c.3557G>A (p.Gly1186Glu) c.3548G>A (p.Gly1183Glu) c.3524G>A (p.Gly1175Glu) c.3518G>A (p.Gly1173Glu) c.3491G>A (p.Gly1164Glu) c.3485G>A (p.Gly1162Glu) c.3479G>A (p.Gly1160Glu) c.3440G>A (p.Gly1147Glu) c.3428G>A (p.Gly1143Glu) c.3371G>A (p.Gly1124Glu) c.3347G>A (p.Gly1116Glu) c.3341G>A (p.Gly1114Glu) c.3323G>A (p.Gly1108Glu) c.3269G>A (p.Gly1090Glu) c.2576G>A (p.Gly859Glu) c.2489G>A (p.Gly830Glu) n.3765G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727803G>C | CA399313340 | ERBB2 | c.3527G>C (p.Gly1176Ala) c.3437G>C (p.Gly1146Ala) c.2699G>C (p.Gly900Ala) c.3482G>C (p.Gly1161Ala) c.*3317G>C (n.*3317G>C) c.*106G>C (n.*106G>C) n.3851G>C c.3665G>C (p.Gly1222Ala) c.3620G>C (p.Gly1207Ala) c.3575G>C (p.Gly1192Ala) c.3644G>C (p.Gly1215Ala) c.3629G>C (p.Gly1210Ala) c.3608G>C (p.Gly1203Ala) c.3602G>C (p.Gly1201Ala) c.3557G>C (p.Gly1186Ala) c.3548G>C (p.Gly1183Ala) c.3524G>C (p.Gly1175Ala) c.3518G>C (p.Gly1173Ala) c.3491G>C (p.Gly1164Ala) c.3485G>C (p.Gly1162Ala) c.3479G>C (p.Gly1160Ala) c.3440G>C (p.Gly1147Ala) c.3428G>C (p.Gly1143Ala) c.3371G>C (p.Gly1124Ala) c.3347G>C (p.Gly1116Ala) c.3341G>C (p.Gly1114Ala) c.3323G>C (p.Gly1108Ala) c.3269G>C (p.Gly1090Ala) c.2576G>C (p.Gly859Ala) c.2489G>C (p.Gly830Ala) n.3765G>C | |
17 | g.39727803G= | CA2259229269 | ERBB2 | c.3527G= (p.Gly1176=) c.3437G= (p.Gly1146=) c.2699G= (p.Gly900=) c.3482G= (p.Gly1161=) c.*3317G= (n.*3317G=) c.*106G= (n.*106G=) n.3851G= c.3665G= (p.Gly1222=) c.3620G= (p.Gly1207=) c.3575G= (p.Gly1192=) c.3644G= (p.Gly1215=) c.3629G= (p.Gly1210=) c.3608G= (p.Gly1203=) c.3602G= (p.Gly1201=) c.3557G= (p.Gly1186=) c.3548G= (p.Gly1183=) c.3524G= (p.Gly1175=) c.3518G= (p.Gly1173=) c.3491G= (p.Gly1164=) c.3485G= (p.Gly1162=) c.3479G= (p.Gly1160=) c.3440G= (p.Gly1147=) c.3428G= (p.Gly1143=) c.3371G= (p.Gly1124=) c.3347G= (p.Gly1116=) c.3341G= (p.Gly1114=) c.3323G= (p.Gly1108=) c.3269G= (p.Gly1090=) c.2576G= (p.Gly859=) c.2489G= (p.Gly830=) n.3765G= | |
17 | g.39727803G>T | CA399313335 | ERBB2 | c.3527G>T (p.Gly1176Val) c.3437G>T (p.Gly1146Val) c.2699G>T (p.Gly900Val) c.3482G>T (p.Gly1161Val) c.*3317G>T (n.*3317G>T) c.*106G>T (n.*106G>T) n.3851G>T c.3665G>T (p.Gly1222Val) c.3620G>T (p.Gly1207Val) c.3575G>T (p.Gly1192Val) c.3644G>T (p.Gly1215Val) c.3629G>T (p.Gly1210Val) c.3608G>T (p.Gly1203Val) c.3602G>T (p.Gly1201Val) c.3557G>T (p.Gly1186Val) c.3548G>T (p.Gly1183Val) c.3524G>T (p.Gly1175Val) c.3518G>T (p.Gly1173Val) c.3491G>T (p.Gly1164Val) c.3485G>T (p.Gly1162Val) c.3479G>T (p.Gly1160Val) c.3440G>T (p.Gly1147Val) c.3428G>T (p.Gly1143Val) c.3371G>T (p.Gly1124Val) c.3347G>T (p.Gly1116Val) c.3341G>T (p.Gly1114Val) c.3323G>T (p.Gly1108Val) c.3269G>T (p.Gly1090Val) c.2576G>T (p.Gly859Val) c.2489G>T (p.Gly830Val) n.3765G>T | dbSNP |
17 | g.39727804G>A | CA499890708 | ERBB2 | c.3528G>A (p.Gly1176=) c.3438G>A (p.Gly1146=) c.2700G>A (p.Gly900=) c.3483G>A (p.Gly1161=) c.*3318G>A (n.*3318G>A) c.*107G>A (n.*107G>A) n.3852G>A c.3666G>A (p.Gly1222=) c.3621G>A (p.Gly1207=) c.3576G>A (p.Gly1192=) c.3645G>A (p.Gly1215=) c.3630G>A (p.Gly1210=) c.3609G>A (p.Gly1203=) c.3603G>A (p.Gly1201=) c.3558G>A (p.Gly1186=) c.3549G>A (p.Gly1183=) c.3525G>A (p.Gly1175=) c.3519G>A (p.Gly1173=) c.3492G>A (p.Gly1164=) c.3486G>A (p.Gly1162=) c.3480G>A (p.Gly1160=) c.3441G>A (p.Gly1147=) c.3429G>A (p.Gly1143=) c.3372G>A (p.Gly1124=) c.3348G>A (p.Gly1116=) c.3342G>A (p.Gly1114=) c.3324G>A (p.Gly1108=) c.3270G>A (p.Gly1090=) c.2577G>A (p.Gly859=) c.2490G>A (p.Gly830=) n.3766G>A | dbSNP gnomAD v4 |
17 | g.39727804G>C | CA499890709 | ERBB2 | c.3528G>C (p.Gly1176=) c.3438G>C (p.Gly1146=) c.2700G>C (p.Gly900=) c.3483G>C (p.Gly1161=) c.*3318G>C (n.*3318G>C) c.*107G>C (n.*107G>C) n.3852G>C c.3666G>C (p.Gly1222=) c.3621G>C (p.Gly1207=) c.3576G>C (p.Gly1192=) c.3645G>C (p.Gly1215=) c.3630G>C (p.Gly1210=) c.3609G>C (p.Gly1203=) c.3603G>C (p.Gly1201=) c.3558G>C (p.Gly1186=) c.3549G>C (p.Gly1183=) c.3525G>C (p.Gly1175=) c.3519G>C (p.Gly1173=) c.3492G>C (p.Gly1164=) c.3486G>C (p.Gly1162=) c.3480G>C (p.Gly1160=) c.3441G>C (p.Gly1147=) c.3429G>C (p.Gly1143=) c.3372G>C (p.Gly1124=) c.3348G>C (p.Gly1116=) c.3342G>C (p.Gly1114=) c.3324G>C (p.Gly1108=) c.3270G>C (p.Gly1090=) c.2577G>C (p.Gly859=) c.2490G>C (p.Gly830=) n.3766G>C | |
17 | g.39727804G>T | CA499890707 | ERBB2 | c.3528G>T (p.Gly1176=) c.3438G>T (p.Gly1146=) c.2700G>T (p.Gly900=) c.3483G>T (p.Gly1161=) c.*3318G>T (n.*3318G>T) c.*107G>T (n.*107G>T) n.3852G>T c.3666G>T (p.Gly1222=) c.3621G>T (p.Gly1207=) c.3576G>T (p.Gly1192=) c.3645G>T (p.Gly1215=) c.3630G>T (p.Gly1210=) c.3609G>T (p.Gly1203=) c.3603G>T (p.Gly1201=) c.3558G>T (p.Gly1186=) c.3549G>T (p.Gly1183=) c.3525G>T (p.Gly1175=) c.3519G>T (p.Gly1173=) c.3492G>T (p.Gly1164=) c.3486G>T (p.Gly1162=) c.3480G>T (p.Gly1160=) c.3441G>T (p.Gly1147=) c.3429G>T (p.Gly1143=) c.3372G>T (p.Gly1124=) c.3348G>T (p.Gly1116=) c.3342G>T (p.Gly1114=) c.3324G>T (p.Gly1108=) c.3270G>T (p.Gly1090=) c.2577G>T (p.Gly859=) c.2490G>T (p.Gly830=) n.3766G>T | dbSNP |
17 | g.39727807_39727809del | CA2637630317 | ERBB2 | c.3531_3533del (p.Lys1177del) c.3441_3443del (p.Lys1147del) c.2703_2705del (p.Lys901del) c.3486_3488del (p.Lys1162del) c.*3321_*3323del (n.*3321_*3323del) c.*110_*112del (n.*110_*112del) n.3855_3857del c.3669_3671del (p.Lys1223del) c.3624_3626del (p.Lys1208del) c.3579_3581del (p.Lys1193del) c.3648_3650del (p.Lys1216del) c.3633_3635del (p.Lys1211del) c.3612_3614del (p.Lys1204del) c.3606_3608del (p.Lys1202del) c.3561_3563del (p.Lys1187del) c.3552_3554del (p.Lys1184del) c.3528_3530del (p.Lys1176del) c.3522_3524del (p.Lys1174del) c.3495_3497del (p.Lys1165del) c.3489_3491del (p.Lys1163del) c.3483_3485del (p.Lys1161del) c.3444_3446del (p.Lys1148del) c.3432_3434del (p.Lys1144del) c.3375_3377del (p.Lys1125del) c.3351_3353del (p.Lys1117del) c.3345_3347del (p.Lys1115del) c.3327_3329del (p.Lys1109del) c.3273_3275del (p.Lys1091del) c.2580_2582del (p.Lys860del) c.2493_2495del (p.Lys831del) n.3769_3771del | gnomAD v4 |
17 | g.39727805A= | CA2259229270 | ERBB2 | c.3529A= (p.Lys1177=) c.3439A= (p.Lys1147=) c.2701A= (p.Lys901=) c.3484A= (p.Lys1162=) c.*3319A= (n.*3319A=) c.*108A= (n.*108A=) n.3853A= c.3667A= (p.Lys1223=) c.3622A= (p.Lys1208=) c.3577A= (p.Lys1193=) c.3646A= (p.Lys1216=) c.3631A= (p.Lys1211=) c.3610A= (p.Lys1204=) c.3604A= (p.Lys1202=) c.3559A= (p.Lys1187=) c.3550A= (p.Lys1184=) c.3526A= (p.Lys1176=) c.3520A= (p.Lys1174=) c.3493A= (p.Lys1165=) c.3487A= (p.Lys1163=) c.3481A= (p.Lys1161=) c.3442A= (p.Lys1148=) c.3430A= (p.Lys1144=) c.3373A= (p.Lys1125=) c.3349A= (p.Lys1117=) c.3343A= (p.Lys1115=) c.3325A= (p.Lys1109=) c.3271A= (p.Lys1091=) c.2578A= (p.Lys860=) c.2491A= (p.Lys831=) n.3767A= | |
17 | g.39727805A>C | CA399313349 | ERBB2 | c.3529A>C (p.Lys1177Gln) c.3439A>C (p.Lys1147Gln) c.2701A>C (p.Lys901Gln) c.3484A>C (p.Lys1162Gln) c.*3319A>C (n.*3319A>C) c.*108A>C (n.*108A>C) n.3853A>C c.3667A>C (p.Lys1223Gln) c.3622A>C (p.Lys1208Gln) c.3577A>C (p.Lys1193Gln) c.3646A>C (p.Lys1216Gln) c.3631A>C (p.Lys1211Gln) c.3610A>C (p.Lys1204Gln) c.3604A>C (p.Lys1202Gln) c.3559A>C (p.Lys1187Gln) c.3550A>C (p.Lys1184Gln) c.3526A>C (p.Lys1176Gln) c.3520A>C (p.Lys1174Gln) c.3493A>C (p.Lys1165Gln) c.3487A>C (p.Lys1163Gln) c.3481A>C (p.Lys1161Gln) c.3442A>C (p.Lys1148Gln) c.3430A>C (p.Lys1144Gln) c.3373A>C (p.Lys1125Gln) c.3349A>C (p.Lys1117Gln) c.3343A>C (p.Lys1115Gln) c.3325A>C (p.Lys1109Gln) c.3271A>C (p.Lys1091Gln) c.2578A>C (p.Lys860Gln) c.2491A>C (p.Lys831Gln) n.3767A>C | |
17 | g.39727805A>G | CA399313345 | ERBB2 | c.3529A>G (p.Lys1177Glu) c.3439A>G (p.Lys1147Glu) c.2701A>G (p.Lys901Glu) c.3484A>G (p.Lys1162Glu) c.*3319A>G (n.*3319A>G) c.*108A>G (n.*108A>G) n.3853A>G c.3667A>G (p.Lys1223Glu) c.3622A>G (p.Lys1208Glu) c.3577A>G (p.Lys1193Glu) c.3646A>G (p.Lys1216Glu) c.3631A>G (p.Lys1211Glu) c.3610A>G (p.Lys1204Glu) c.3604A>G (p.Lys1202Glu) c.3559A>G (p.Lys1187Glu) c.3550A>G (p.Lys1184Glu) c.3526A>G (p.Lys1176Glu) c.3520A>G (p.Lys1174Glu) c.3493A>G (p.Lys1165Glu) c.3487A>G (p.Lys1163Glu) c.3481A>G (p.Lys1161Glu) c.3442A>G (p.Lys1148Glu) c.3430A>G (p.Lys1144Glu) c.3373A>G (p.Lys1125Glu) c.3349A>G (p.Lys1117Glu) c.3343A>G (p.Lys1115Glu) c.3325A>G (p.Lys1109Glu) c.3271A>G (p.Lys1091Glu) c.2578A>G (p.Lys860Glu) c.2491A>G (p.Lys831Glu) n.3767A>G | dbSNP |
17 | g.39727805A>T | CA8534576 | ERBB2 | c.3529A>T (p.Lys1177Ter) c.3439A>T (p.Lys1147Ter) c.2701A>T (p.Lys901Ter) c.3484A>T (p.Lys1162Ter) c.*3319A>T (n.*3319A>T) c.*108A>T (n.*108A>T) n.3853A>T c.3667A>T (p.Lys1223Ter) c.3622A>T (p.Lys1208Ter) c.3577A>T (p.Lys1193Ter) c.3646A>T (p.Lys1216Ter) c.3631A>T (p.Lys1211Ter) c.3610A>T (p.Lys1204Ter) c.3604A>T (p.Lys1202Ter) c.3559A>T (p.Lys1187Ter) c.3550A>T (p.Lys1184Ter) c.3526A>T (p.Lys1176Ter) c.3520A>T (p.Lys1174Ter) c.3493A>T (p.Lys1165Ter) c.3487A>T (p.Lys1163Ter) c.3481A>T (p.Lys1161Ter) c.3442A>T (p.Lys1148Ter) c.3430A>T (p.Lys1144Ter) c.3373A>T (p.Lys1125Ter) c.3349A>T (p.Lys1117Ter) c.3343A>T (p.Lys1115Ter) c.3325A>T (p.Lys1109Ter) c.3271A>T (p.Lys1091Ter) c.2578A>T (p.Lys860Ter) c.2491A>T (p.Lys831Ter) n.3767A>T | dbSNP ExAC |
17 | g.39727806A>C | CA399313355 | ERBB2 | c.3530A>C (p.Lys1177Thr) c.3440A>C (p.Lys1147Thr) c.2702A>C (p.Lys901Thr) c.3485A>C (p.Lys1162Thr) c.*3320A>C (n.*3320A>C) c.*109A>C (n.*109A>C) n.3854A>C c.3668A>C (p.Lys1223Thr) c.3623A>C (p.Lys1208Thr) c.3578A>C (p.Lys1193Thr) c.3647A>C (p.Lys1216Thr) c.3632A>C (p.Lys1211Thr) c.3611A>C (p.Lys1204Thr) c.3605A>C (p.Lys1202Thr) c.3560A>C (p.Lys1187Thr) c.3551A>C (p.Lys1184Thr) c.3527A>C (p.Lys1176Thr) c.3521A>C (p.Lys1174Thr) c.3494A>C (p.Lys1165Thr) c.3488A>C (p.Lys1163Thr) c.3482A>C (p.Lys1161Thr) c.3443A>C (p.Lys1148Thr) c.3431A>C (p.Lys1144Thr) c.3374A>C (p.Lys1125Thr) c.3350A>C (p.Lys1117Thr) c.3344A>C (p.Lys1115Thr) c.3326A>C (p.Lys1109Thr) c.3272A>C (p.Lys1091Thr) c.2579A>C (p.Lys860Thr) c.2492A>C (p.Lys831Thr) n.3768A>C | |
17 | g.39727806A>G | CA399313357 | ERBB2 | c.3530A>G (p.Lys1177Arg) c.3440A>G (p.Lys1147Arg) c.2702A>G (p.Lys901Arg) c.3485A>G (p.Lys1162Arg) c.*3320A>G (n.*3320A>G) c.*109A>G (n.*109A>G) n.3854A>G c.3668A>G (p.Lys1223Arg) c.3623A>G (p.Lys1208Arg) c.3578A>G (p.Lys1193Arg) c.3647A>G (p.Lys1216Arg) c.3632A>G (p.Lys1211Arg) c.3611A>G (p.Lys1204Arg) c.3605A>G (p.Lys1202Arg) c.3560A>G (p.Lys1187Arg) c.3551A>G (p.Lys1184Arg) c.3527A>G (p.Lys1176Arg) c.3521A>G (p.Lys1174Arg) c.3494A>G (p.Lys1165Arg) c.3488A>G (p.Lys1163Arg) c.3482A>G (p.Lys1161Arg) c.3443A>G (p.Lys1148Arg) c.3431A>G (p.Lys1144Arg) c.3374A>G (p.Lys1125Arg) c.3350A>G (p.Lys1117Arg) c.3344A>G (p.Lys1115Arg) c.3326A>G (p.Lys1109Arg) c.3272A>G (p.Lys1091Arg) c.2579A>G (p.Lys860Arg) c.2492A>G (p.Lys831Arg) n.3768A>G | dbSNP |
17 | g.39727806A>T | CA399313361 | ERBB2 | c.3530A>T (p.Lys1177Met) c.3440A>T (p.Lys1147Met) c.2702A>T (p.Lys901Met) c.3485A>T (p.Lys1162Met) c.*3320A>T (n.*3320A>T) c.*109A>T (n.*109A>T) n.3854A>T c.3668A>T (p.Lys1223Met) c.3623A>T (p.Lys1208Met) c.3578A>T (p.Lys1193Met) c.3647A>T (p.Lys1216Met) c.3632A>T (p.Lys1211Met) c.3611A>T (p.Lys1204Met) c.3605A>T (p.Lys1202Met) c.3560A>T (p.Lys1187Met) c.3551A>T (p.Lys1184Met) c.3527A>T (p.Lys1176Met) c.3521A>T (p.Lys1174Met) c.3494A>T (p.Lys1165Met) c.3488A>T (p.Lys1163Met) c.3482A>T (p.Lys1161Met) c.3443A>T (p.Lys1148Met) c.3431A>T (p.Lys1144Met) c.3374A>T (p.Lys1125Met) c.3350A>T (p.Lys1117Met) c.3344A>T (p.Lys1115Met) c.3326A>T (p.Lys1109Met) c.3272A>T (p.Lys1091Met) c.2579A>T (p.Lys860Met) c.2492A>T (p.Lys831Met) n.3768A>T | dbSNP |
17 | g.39727807G>A | CA8534578 | ERBB2 | c.3531G>A (p.Lys1177=) c.3441G>A (p.Lys1147=) c.2703G>A (p.Lys901=) c.3486G>A (p.Lys1162=) c.*3321G>A (n.*3321G>A) c.*110G>A (n.*110G>A) n.3855G>A c.3669G>A (p.Lys1223=) c.3624G>A (p.Lys1208=) c.3579G>A (p.Lys1193=) c.3648G>A (p.Lys1216=) c.3633G>A (p.Lys1211=) c.3612G>A (p.Lys1204=) c.3606G>A (p.Lys1202=) c.3561G>A (p.Lys1187=) c.3552G>A (p.Lys1184=) c.3528G>A (p.Lys1176=) c.3522G>A (p.Lys1174=) c.3495G>A (p.Lys1165=) c.3489G>A (p.Lys1163=) c.3483G>A (p.Lys1161=) c.3444G>A (p.Lys1148=) c.3432G>A (p.Lys1144=) c.3375G>A (p.Lys1125=) c.3351G>A (p.Lys1117=) c.3345G>A (p.Lys1115=) c.3327G>A (p.Lys1109=) c.3273G>A (p.Lys1091=) c.2580G>A (p.Lys860=) c.2493G>A (p.Lys831=) n.3769G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727807G>C | CA399313367 | ERBB2 | c.3531G>C (p.Lys1177Asn) c.3441G>C (p.Lys1147Asn) c.2703G>C (p.Lys901Asn) c.3486G>C (p.Lys1162Asn) c.*3321G>C (n.*3321G>C) c.*110G>C (n.*110G>C) n.3855G>C c.3669G>C (p.Lys1223Asn) c.3624G>C (p.Lys1208Asn) c.3579G>C (p.Lys1193Asn) c.3648G>C (p.Lys1216Asn) c.3633G>C (p.Lys1211Asn) c.3612G>C (p.Lys1204Asn) c.3606G>C (p.Lys1202Asn) c.3561G>C (p.Lys1187Asn) c.3552G>C (p.Lys1184Asn) c.3528G>C (p.Lys1176Asn) c.3522G>C (p.Lys1174Asn) c.3495G>C (p.Lys1165Asn) c.3489G>C (p.Lys1163Asn) c.3483G>C (p.Lys1161Asn) c.3444G>C (p.Lys1148Asn) c.3432G>C (p.Lys1144Asn) c.3375G>C (p.Lys1125Asn) c.3351G>C (p.Lys1117Asn) c.3345G>C (p.Lys1115Asn) c.3327G>C (p.Lys1109Asn) c.3273G>C (p.Lys1091Asn) c.2580G>C (p.Lys860Asn) c.2493G>C (p.Lys831Asn) n.3769G>C | dbSNP |
17 | g.39727807G= | CA2259229271 | ERBB2 | c.3531G= (p.Lys1177=) c.3441G= (p.Lys1147=) c.2703G= (p.Lys901=) c.3486G= (p.Lys1162=) c.*3321G= (n.*3321G=) c.*110G= (n.*110G=) n.3855G= c.3669G= (p.Lys1223=) c.3624G= (p.Lys1208=) c.3579G= (p.Lys1193=) c.3648G= (p.Lys1216=) c.3633G= (p.Lys1211=) c.3612G= (p.Lys1204=) c.3606G= (p.Lys1202=) c.3561G= (p.Lys1187=) c.3552G= (p.Lys1184=) c.3528G= (p.Lys1176=) c.3522G= (p.Lys1174=) c.3495G= (p.Lys1165=) c.3489G= (p.Lys1163=) c.3483G= (p.Lys1161=) c.3444G= (p.Lys1148=) c.3432G= (p.Lys1144=) c.3375G= (p.Lys1125=) c.3351G= (p.Lys1117=) c.3345G= (p.Lys1115=) c.3327G= (p.Lys1109=) c.3273G= (p.Lys1091=) c.2580G= (p.Lys860=) c.2493G= (p.Lys831=) n.3769G= | |
17 | g.39727807G>T | CA8534577 | ERBB2 | c.3531G>T (p.Lys1177Asn) c.3441G>T (p.Lys1147Asn) c.2703G>T (p.Lys901Asn) c.3486G>T (p.Lys1162Asn) c.*3321G>T (n.*3321G>T) c.*110G>T (n.*110G>T) n.3855G>T c.3669G>T (p.Lys1223Asn) c.3624G>T (p.Lys1208Asn) c.3579G>T (p.Lys1193Asn) c.3648G>T (p.Lys1216Asn) c.3633G>T (p.Lys1211Asn) c.3612G>T (p.Lys1204Asn) c.3606G>T (p.Lys1202Asn) c.3561G>T (p.Lys1187Asn) c.3552G>T (p.Lys1184Asn) c.3528G>T (p.Lys1176Asn) c.3522G>T (p.Lys1174Asn) c.3495G>T (p.Lys1165Asn) c.3489G>T (p.Lys1163Asn) c.3483G>T (p.Lys1161Asn) c.3444G>T (p.Lys1148Asn) c.3432G>T (p.Lys1144Asn) c.3375G>T (p.Lys1125Asn) c.3351G>T (p.Lys1117Asn) c.3345G>T (p.Lys1115Asn) c.3327G>T (p.Lys1109Asn) c.3273G>T (p.Lys1091Asn) c.2580G>T (p.Lys860Asn) c.2493G>T (p.Lys831Asn) n.3769G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727808A>C | CA399313373 | ERBB2 | c.3532A>C (p.Asn1178His) c.3442A>C (p.Asn1148His) c.2704A>C (p.Asn902His) c.3487A>C (p.Asn1163His) c.*3322A>C (n.*3322A>C) c.*111A>C (n.*111A>C) n.3856A>C c.3670A>C (p.Asn1224His) c.3625A>C (p.Asn1209His) c.3580A>C (p.Asn1194His) c.3649A>C (p.Asn1217His) c.3634A>C (p.Asn1212His) c.3613A>C (p.Asn1205His) c.3607A>C (p.Asn1203His) c.3562A>C (p.Asn1188His) c.3553A>C (p.Asn1185His) c.3529A>C (p.Asn1177His) c.3523A>C (p.Asn1175His) c.3496A>C (p.Asn1166His) c.3490A>C (p.Asn1164His) c.3484A>C (p.Asn1162His) c.3445A>C (p.Asn1149His) c.3433A>C (p.Asn1145His) c.3376A>C (p.Asn1126His) c.3352A>C (p.Asn1118His) c.3346A>C (p.Asn1116His) c.3328A>C (p.Asn1110His) c.3274A>C (p.Asn1092His) c.2581A>C (p.Asn861His) c.2494A>C (p.Asn832His) n.3770A>C | |
17 | g.39727808A>G | CA399313376 | ERBB2 | c.3532A>G (p.Asn1178Asp) c.3442A>G (p.Asn1148Asp) c.2704A>G (p.Asn902Asp) c.3487A>G (p.Asn1163Asp) c.*3322A>G (n.*3322A>G) c.*111A>G (n.*111A>G) n.3856A>G c.3670A>G (p.Asn1224Asp) c.3625A>G (p.Asn1209Asp) c.3580A>G (p.Asn1194Asp) c.3649A>G (p.Asn1217Asp) c.3634A>G (p.Asn1212Asp) c.3613A>G (p.Asn1205Asp) c.3607A>G (p.Asn1203Asp) c.3562A>G (p.Asn1188Asp) c.3553A>G (p.Asn1185Asp) c.3529A>G (p.Asn1177Asp) c.3523A>G (p.Asn1175Asp) c.3496A>G (p.Asn1166Asp) c.3490A>G (p.Asn1164Asp) c.3484A>G (p.Asn1162Asp) c.3445A>G (p.Asn1149Asp) c.3433A>G (p.Asn1145Asp) c.3376A>G (p.Asn1126Asp) c.3352A>G (p.Asn1118Asp) c.3346A>G (p.Asn1116Asp) c.3328A>G (p.Asn1110Asp) c.3274A>G (p.Asn1092Asp) c.2581A>G (p.Asn861Asp) c.2494A>G (p.Asn832Asp) n.3770A>G | dbSNP |
17 | g.39727808A>T | CA399313379 | ERBB2 | c.3532A>T (p.Asn1178Tyr) c.3442A>T (p.Asn1148Tyr) c.2704A>T (p.Asn902Tyr) c.3487A>T (p.Asn1163Tyr) c.*3322A>T (n.*3322A>T) c.*111A>T (n.*111A>T) n.3856A>T c.3670A>T (p.Asn1224Tyr) c.3625A>T (p.Asn1209Tyr) c.3580A>T (p.Asn1194Tyr) c.3649A>T (p.Asn1217Tyr) c.3634A>T (p.Asn1212Tyr) c.3613A>T (p.Asn1205Tyr) c.3607A>T (p.Asn1203Tyr) c.3562A>T (p.Asn1188Tyr) c.3553A>T (p.Asn1185Tyr) c.3529A>T (p.Asn1177Tyr) c.3523A>T (p.Asn1175Tyr) c.3496A>T (p.Asn1166Tyr) c.3490A>T (p.Asn1164Tyr) c.3484A>T (p.Asn1162Tyr) c.3445A>T (p.Asn1149Tyr) c.3433A>T (p.Asn1145Tyr) c.3376A>T (p.Asn1126Tyr) c.3352A>T (p.Asn1118Tyr) c.3346A>T (p.Asn1116Tyr) c.3328A>T (p.Asn1110Tyr) c.3274A>T (p.Asn1092Tyr) c.2581A>T (p.Asn861Tyr) c.2494A>T (p.Asn832Tyr) n.3770A>T | dbSNP |
17 | g.39727809A= | CA2259229272 | ERBB2 | c.3533A= (p.Asn1178=) c.3443A= (p.Asn1148=) c.2705A= (p.Asn902=) c.3488A= (p.Asn1163=) c.*3323A= (n.*3323A=) c.*112A= (n.*112A=) n.3857A= c.3671A= (p.Asn1224=) c.3626A= (p.Asn1209=) c.3581A= (p.Asn1194=) c.3650A= (p.Asn1217=) c.3635A= (p.Asn1212=) c.3614A= (p.Asn1205=) c.3608A= (p.Asn1203=) c.3563A= (p.Asn1188=) c.3554A= (p.Asn1185=) c.3530A= (p.Asn1177=) c.3524A= (p.Asn1175=) c.3497A= (p.Asn1166=) c.3491A= (p.Asn1164=) c.3485A= (p.Asn1162=) c.3446A= (p.Asn1149=) c.3434A= (p.Asn1145=) c.3377A= (p.Asn1126=) c.3353A= (p.Asn1118=) c.3347A= (p.Asn1116=) c.3329A= (p.Asn1110=) c.3275A= (p.Asn1092=) c.2582A= (p.Asn861=) c.2495A= (p.Asn832=) n.3771A= | |
17 | g.39727809A>C | CA399313382 | ERBB2 | c.3533A>C (p.Asn1178Thr) c.3443A>C (p.Asn1148Thr) c.2705A>C (p.Asn902Thr) c.3488A>C (p.Asn1163Thr) c.*3323A>C (n.*3323A>C) c.*112A>C (n.*112A>C) n.3857A>C c.3671A>C (p.Asn1224Thr) c.3626A>C (p.Asn1209Thr) c.3581A>C (p.Asn1194Thr) c.3650A>C (p.Asn1217Thr) c.3635A>C (p.Asn1212Thr) c.3614A>C (p.Asn1205Thr) c.3608A>C (p.Asn1203Thr) c.3563A>C (p.Asn1188Thr) c.3554A>C (p.Asn1185Thr) c.3530A>C (p.Asn1177Thr) c.3524A>C (p.Asn1175Thr) c.3497A>C (p.Asn1166Thr) c.3491A>C (p.Asn1164Thr) c.3485A>C (p.Asn1162Thr) c.3446A>C (p.Asn1149Thr) c.3434A>C (p.Asn1145Thr) c.3377A>C (p.Asn1126Thr) c.3353A>C (p.Asn1118Thr) c.3347A>C (p.Asn1116Thr) c.3329A>C (p.Asn1110Thr) c.3275A>C (p.Asn1092Thr) c.2582A>C (p.Asn861Thr) c.2495A>C (p.Asn832Thr) n.3771A>C | |
17 | g.39727809A>G | CA399313383 | ERBB2 | c.3533A>G (p.Asn1178Ser) c.3443A>G (p.Asn1148Ser) c.2705A>G (p.Asn902Ser) c.3488A>G (p.Asn1163Ser) c.*3323A>G (n.*3323A>G) c.*112A>G (n.*112A>G) n.3857A>G c.3671A>G (p.Asn1224Ser) c.3626A>G (p.Asn1209Ser) c.3581A>G (p.Asn1194Ser) c.3650A>G (p.Asn1217Ser) c.3635A>G (p.Asn1212Ser) c.3614A>G (p.Asn1205Ser) c.3608A>G (p.Asn1203Ser) c.3563A>G (p.Asn1188Ser) c.3554A>G (p.Asn1185Ser) c.3530A>G (p.Asn1177Ser) c.3524A>G (p.Asn1175Ser) c.3497A>G (p.Asn1166Ser) c.3491A>G (p.Asn1164Ser) c.3485A>G (p.Asn1162Ser) c.3446A>G (p.Asn1149Ser) c.3434A>G (p.Asn1145Ser) c.3377A>G (p.Asn1126Ser) c.3353A>G (p.Asn1118Ser) c.3347A>G (p.Asn1116Ser) c.3329A>G (p.Asn1110Ser) c.3275A>G (p.Asn1092Ser) c.2582A>G (p.Asn861Ser) c.2495A>G (p.Asn832Ser) n.3771A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727809A>T | CA399313386 | ERBB2 | c.3533A>T (p.Asn1178Ile) c.3443A>T (p.Asn1148Ile) c.2705A>T (p.Asn902Ile) c.3488A>T (p.Asn1163Ile) c.*3323A>T (n.*3323A>T) c.*112A>T (n.*112A>T) n.3857A>T c.3671A>T (p.Asn1224Ile) c.3626A>T (p.Asn1209Ile) c.3581A>T (p.Asn1194Ile) c.3650A>T (p.Asn1217Ile) c.3635A>T (p.Asn1212Ile) c.3614A>T (p.Asn1205Ile) c.3608A>T (p.Asn1203Ile) c.3563A>T (p.Asn1188Ile) c.3554A>T (p.Asn1185Ile) c.3530A>T (p.Asn1177Ile) c.3524A>T (p.Asn1175Ile) c.3497A>T (p.Asn1166Ile) c.3491A>T (p.Asn1164Ile) c.3485A>T (p.Asn1162Ile) c.3446A>T (p.Asn1149Ile) c.3434A>T (p.Asn1145Ile) c.3377A>T (p.Asn1126Ile) c.3353A>T (p.Asn1118Ile) c.3347A>T (p.Asn1116Ile) c.3329A>T (p.Asn1110Ile) c.3275A>T (p.Asn1092Ile) c.2582A>T (p.Asn861Ile) c.2495A>T (p.Asn832Ile) n.3771A>T | dbSNP |
17 | g.39727810T>A | CA399313389 | ERBB2 | c.3534T>A (p.Asn1178Lys) c.3444T>A (p.Asn1148Lys) c.2706T>A (p.Asn902Lys) c.3489T>A (p.Asn1163Lys) c.*3324T>A (n.*3324T>A) c.*113T>A (n.*113T>A) n.3858T>A c.3672T>A (p.Asn1224Lys) c.3627T>A (p.Asn1209Lys) c.3582T>A (p.Asn1194Lys) c.3651T>A (p.Asn1217Lys) c.3636T>A (p.Asn1212Lys) c.3615T>A (p.Asn1205Lys) c.3609T>A (p.Asn1203Lys) c.3564T>A (p.Asn1188Lys) c.3555T>A (p.Asn1185Lys) c.3531T>A (p.Asn1177Lys) c.3525T>A (p.Asn1175Lys) c.3498T>A (p.Asn1166Lys) c.3492T>A (p.Asn1164Lys) c.3486T>A (p.Asn1162Lys) c.3447T>A (p.Asn1149Lys) c.3435T>A (p.Asn1145Lys) c.3378T>A (p.Asn1126Lys) c.3354T>A (p.Asn1118Lys) c.3348T>A (p.Asn1116Lys) c.3330T>A (p.Asn1110Lys) c.3276T>A (p.Asn1092Lys) c.2583T>A (p.Asn861Lys) c.2496T>A (p.Asn832Lys) n.3772T>A | |
17 | g.39727810T>C | CA499890715 | ERBB2 | c.3534T>C (p.Asn1178=) c.3444T>C (p.Asn1148=) c.2706T>C (p.Asn902=) c.3489T>C (p.Asn1163=) c.*3324T>C (n.*3324T>C) c.*113T>C (n.*113T>C) n.3858T>C c.3672T>C (p.Asn1224=) c.3627T>C (p.Asn1209=) c.3582T>C (p.Asn1194=) c.3651T>C (p.Asn1217=) c.3636T>C (p.Asn1212=) c.3615T>C (p.Asn1205=) c.3609T>C (p.Asn1203=) c.3564T>C (p.Asn1188=) c.3555T>C (p.Asn1185=) c.3531T>C (p.Asn1177=) c.3525T>C (p.Asn1175=) c.3498T>C (p.Asn1166=) c.3492T>C (p.Asn1164=) c.3486T>C (p.Asn1162=) c.3447T>C (p.Asn1149=) c.3435T>C (p.Asn1145=) c.3378T>C (p.Asn1126=) c.3354T>C (p.Asn1118=) c.3348T>C (p.Asn1116=) c.3330T>C (p.Asn1110=) c.3276T>C (p.Asn1092=) c.2583T>C (p.Asn861=) c.2496T>C (p.Asn832=) n.3772T>C | ClinVar dbSNP gnomAD v4 |
17 | g.39727810T>G | CA399313390 | ERBB2 | c.3534T>G (p.Asn1178Lys) c.3444T>G (p.Asn1148Lys) c.2706T>G (p.Asn902Lys) c.3489T>G (p.Asn1163Lys) c.*3324T>G (n.*3324T>G) c.*113T>G (n.*113T>G) n.3858T>G c.3672T>G (p.Asn1224Lys) c.3627T>G (p.Asn1209Lys) c.3582T>G (p.Asn1194Lys) c.3651T>G (p.Asn1217Lys) c.3636T>G (p.Asn1212Lys) c.3615T>G (p.Asn1205Lys) c.3609T>G (p.Asn1203Lys) c.3564T>G (p.Asn1188Lys) c.3555T>G (p.Asn1185Lys) c.3531T>G (p.Asn1177Lys) c.3525T>G (p.Asn1175Lys) c.3498T>G (p.Asn1166Lys) c.3492T>G (p.Asn1164Lys) c.3486T>G (p.Asn1162Lys) c.3447T>G (p.Asn1149Lys) c.3435T>G (p.Asn1145Lys) c.3378T>G (p.Asn1126Lys) c.3354T>G (p.Asn1118Lys) c.3348T>G (p.Asn1116Lys) c.3330T>G (p.Asn1110Lys) c.3276T>G (p.Asn1092Lys) c.2583T>G (p.Asn861Lys) c.2496T>G (p.Asn832Lys) n.3772T>G | |
17 | g.39727810T= | CA2259229273 | ERBB2 | c.3534T= (p.Asn1178=) c.3444T= (p.Asn1148=) c.2706T= (p.Asn902=) c.3489T= (p.Asn1163=) c.*3324T= (n.*3324T=) c.*113T= (n.*113T=) n.3858T= c.3672T= (p.Asn1224=) c.3627T= (p.Asn1209=) c.3582T= (p.Asn1194=) c.3651T= (p.Asn1217=) c.3636T= (p.Asn1212=) c.3615T= (p.Asn1205=) c.3609T= (p.Asn1203=) c.3564T= (p.Asn1188=) c.3555T= (p.Asn1185=) c.3531T= (p.Asn1177=) c.3525T= (p.Asn1175=) c.3498T= (p.Asn1166=) c.3492T= (p.Asn1164=) c.3486T= (p.Asn1162=) c.3447T= (p.Asn1149=) c.3435T= (p.Asn1145=) c.3378T= (p.Asn1126=) c.3354T= (p.Asn1118=) c.3348T= (p.Asn1116=) c.3330T= (p.Asn1110=) c.3276T= (p.Asn1092=) c.2583T= (p.Asn861=) c.2496T= (p.Asn832=) n.3772T= | |
17 | g.39727811G>A | CA399313392 | ERBB2 | c.3535G>A (p.Gly1179Arg) c.3445G>A (p.Gly1149Arg) c.2707G>A (p.Gly903Arg) c.3490G>A (p.Gly1164Arg) c.*3325G>A (n.*3325G>A) c.*114G>A (n.*114G>A) n.3859G>A c.3673G>A (p.Gly1225Arg) c.3628G>A (p.Gly1210Arg) c.3583G>A (p.Gly1195Arg) c.3652G>A (p.Gly1218Arg) c.3637G>A (p.Gly1213Arg) c.3616G>A (p.Gly1206Arg) c.3610G>A (p.Gly1204Arg) c.3565G>A (p.Gly1189Arg) c.3556G>A (p.Gly1186Arg) c.3532G>A (p.Gly1178Arg) c.3526G>A (p.Gly1176Arg) c.3499G>A (p.Gly1167Arg) c.3493G>A (p.Gly1165Arg) c.3487G>A (p.Gly1163Arg) c.3448G>A (p.Gly1150Arg) c.3436G>A (p.Gly1146Arg) c.3379G>A (p.Gly1127Arg) c.3355G>A (p.Gly1119Arg) c.3349G>A (p.Gly1117Arg) c.3331G>A (p.Gly1111Arg) c.3277G>A (p.Gly1093Arg) c.2584G>A (p.Gly862Arg) c.2497G>A (p.Gly833Arg) n.3773G>A | dbSNP |
17 | g.39727811G>C | CA399313394 | ERBB2 | c.3535G>C (p.Gly1179Arg) c.3445G>C (p.Gly1149Arg) c.2707G>C (p.Gly903Arg) c.3490G>C (p.Gly1164Arg) c.*3325G>C (n.*3325G>C) c.*114G>C (n.*114G>C) n.3859G>C c.3673G>C (p.Gly1225Arg) c.3628G>C (p.Gly1210Arg) c.3583G>C (p.Gly1195Arg) c.3652G>C (p.Gly1218Arg) c.3637G>C (p.Gly1213Arg) c.3616G>C (p.Gly1206Arg) c.3610G>C (p.Gly1204Arg) c.3565G>C (p.Gly1189Arg) c.3556G>C (p.Gly1186Arg) c.3532G>C (p.Gly1178Arg) c.3526G>C (p.Gly1176Arg) c.3499G>C (p.Gly1167Arg) c.3493G>C (p.Gly1165Arg) c.3487G>C (p.Gly1163Arg) c.3448G>C (p.Gly1150Arg) c.3436G>C (p.Gly1146Arg) c.3379G>C (p.Gly1127Arg) c.3355G>C (p.Gly1119Arg) c.3349G>C (p.Gly1117Arg) c.3331G>C (p.Gly1111Arg) c.3277G>C (p.Gly1093Arg) c.2584G>C (p.Gly862Arg) c.2497G>C (p.Gly833Arg) n.3773G>C | dbSNP |
17 | g.39727811G>T | CA399313395 | ERBB2 | c.3535G>T (p.Gly1179Trp) c.3445G>T (p.Gly1149Trp) c.2707G>T (p.Gly903Trp) c.3490G>T (p.Gly1164Trp) c.*3325G>T (n.*3325G>T) c.*114G>T (n.*114G>T) n.3859G>T c.3673G>T (p.Gly1225Trp) c.3628G>T (p.Gly1210Trp) c.3583G>T (p.Gly1195Trp) c.3652G>T (p.Gly1218Trp) c.3637G>T (p.Gly1213Trp) c.3616G>T (p.Gly1206Trp) c.3610G>T (p.Gly1204Trp) c.3565G>T (p.Gly1189Trp) c.3556G>T (p.Gly1186Trp) c.3532G>T (p.Gly1178Trp) c.3526G>T (p.Gly1176Trp) c.3499G>T (p.Gly1167Trp) c.3493G>T (p.Gly1165Trp) c.3487G>T (p.Gly1163Trp) c.3448G>T (p.Gly1150Trp) c.3436G>T (p.Gly1146Trp) c.3379G>T (p.Gly1127Trp) c.3355G>T (p.Gly1119Trp) c.3349G>T (p.Gly1117Trp) c.3331G>T (p.Gly1111Trp) c.3277G>T (p.Gly1093Trp) c.2584G>T (p.Gly862Trp) c.2497G>T (p.Gly833Trp) n.3773G>T | dbSNP |
17 | g.39727812G>A | CA399313400 | ERBB2 | c.3536G>A (p.Gly1179Glu) c.3446G>A (p.Gly1149Glu) c.2708G>A (p.Gly903Glu) c.3491G>A (p.Gly1164Glu) c.*3326G>A (n.*3326G>A) c.*115G>A (n.*115G>A) n.3860G>A c.3674G>A (p.Gly1225Glu) c.3629G>A (p.Gly1210Glu) c.3584G>A (p.Gly1195Glu) c.3653G>A (p.Gly1218Glu) c.3638G>A (p.Gly1213Glu) c.3617G>A (p.Gly1206Glu) c.3611G>A (p.Gly1204Glu) c.3566G>A (p.Gly1189Glu) c.3557G>A (p.Gly1186Glu) c.3533G>A (p.Gly1178Glu) c.3527G>A (p.Gly1176Glu) c.3500G>A (p.Gly1167Glu) c.3494G>A (p.Gly1165Glu) c.3488G>A (p.Gly1163Glu) c.3449G>A (p.Gly1150Glu) c.3437G>A (p.Gly1146Glu) c.3380G>A (p.Gly1127Glu) c.3356G>A (p.Gly1119Glu) c.3350G>A (p.Gly1117Glu) c.3332G>A (p.Gly1111Glu) c.3278G>A (p.Gly1093Glu) c.2585G>A (p.Gly862Glu) c.2498G>A (p.Gly833Glu) n.3774G>A | dbSNP |
17 | g.39727812G>C | CA399313401 | ERBB2 | c.3536G>C (p.Gly1179Ala) c.3446G>C (p.Gly1149Ala) c.2708G>C (p.Gly903Ala) c.3491G>C (p.Gly1164Ala) c.*3326G>C (n.*3326G>C) c.*115G>C (n.*115G>C) n.3860G>C c.3674G>C (p.Gly1225Ala) c.3629G>C (p.Gly1210Ala) c.3584G>C (p.Gly1195Ala) c.3653G>C (p.Gly1218Ala) c.3638G>C (p.Gly1213Ala) c.3617G>C (p.Gly1206Ala) c.3611G>C (p.Gly1204Ala) c.3566G>C (p.Gly1189Ala) c.3557G>C (p.Gly1186Ala) c.3533G>C (p.Gly1178Ala) c.3527G>C (p.Gly1176Ala) c.3500G>C (p.Gly1167Ala) c.3494G>C (p.Gly1165Ala) c.3488G>C (p.Gly1163Ala) c.3449G>C (p.Gly1150Ala) c.3437G>C (p.Gly1146Ala) c.3380G>C (p.Gly1127Ala) c.3356G>C (p.Gly1119Ala) c.3350G>C (p.Gly1117Ala) c.3332G>C (p.Gly1111Ala) c.3278G>C (p.Gly1093Ala) c.2585G>C (p.Gly862Ala) c.2498G>C (p.Gly833Ala) n.3774G>C | dbSNP |
17 | g.39727812G>T | CA399313404 | ERBB2 | c.3536G>T (p.Gly1179Val) c.3446G>T (p.Gly1149Val) c.2708G>T (p.Gly903Val) c.3491G>T (p.Gly1164Val) c.*3326G>T (n.*3326G>T) c.*115G>T (n.*115G>T) n.3860G>T c.3674G>T (p.Gly1225Val) c.3629G>T (p.Gly1210Val) c.3584G>T (p.Gly1195Val) c.3653G>T (p.Gly1218Val) c.3638G>T (p.Gly1213Val) c.3617G>T (p.Gly1206Val) c.3611G>T (p.Gly1204Val) c.3566G>T (p.Gly1189Val) c.3557G>T (p.Gly1186Val) c.3533G>T (p.Gly1178Val) c.3527G>T (p.Gly1176Val) c.3500G>T (p.Gly1167Val) c.3494G>T (p.Gly1165Val) c.3488G>T (p.Gly1163Val) c.3449G>T (p.Gly1150Val) c.3437G>T (p.Gly1146Val) c.3380G>T (p.Gly1127Val) c.3356G>T (p.Gly1119Val) c.3350G>T (p.Gly1117Val) c.3332G>T (p.Gly1111Val) c.3278G>T (p.Gly1093Val) c.2585G>T (p.Gly862Val) c.2498G>T (p.Gly833Val) n.3774G>T | dbSNP |
17 | g.39727813G>A | CA499890720 | ERBB2 | c.3537G>A (p.Gly1179=) c.3447G>A (p.Gly1149=) c.2709G>A (p.Gly903=) c.3492G>A (p.Gly1164=) c.*3327G>A (n.*3327G>A) c.*116G>A (n.*116G>A) n.3861G>A c.3675G>A (p.Gly1225=) c.3630G>A (p.Gly1210=) c.3585G>A (p.Gly1195=) c.3654G>A (p.Gly1218=) c.3639G>A (p.Gly1213=) c.3618G>A (p.Gly1206=) c.3612G>A (p.Gly1204=) c.3567G>A (p.Gly1189=) c.3558G>A (p.Gly1186=) c.3534G>A (p.Gly1178=) c.3528G>A (p.Gly1176=) c.3501G>A (p.Gly1167=) c.3495G>A (p.Gly1165=) c.3489G>A (p.Gly1163=) c.3450G>A (p.Gly1150=) c.3438G>A (p.Gly1146=) c.3381G>A (p.Gly1127=) c.3357G>A (p.Gly1119=) c.3351G>A (p.Gly1117=) c.3333G>A (p.Gly1111=) c.3279G>A (p.Gly1093=) c.2586G>A (p.Gly862=) c.2499G>A (p.Gly833=) n.3775G>A | dbSNP |
17 | g.39727813G>C | CA499890722 | ERBB2 | c.3537G>C (p.Gly1179=) c.3447G>C (p.Gly1149=) c.2709G>C (p.Gly903=) c.3492G>C (p.Gly1164=) c.*3327G>C (n.*3327G>C) c.*116G>C (n.*116G>C) n.3861G>C c.3675G>C (p.Gly1225=) c.3630G>C (p.Gly1210=) c.3585G>C (p.Gly1195=) c.3654G>C (p.Gly1218=) c.3639G>C (p.Gly1213=) c.3618G>C (p.Gly1206=) c.3612G>C (p.Gly1204=) c.3567G>C (p.Gly1189=) c.3558G>C (p.Gly1186=) c.3534G>C (p.Gly1178=) c.3528G>C (p.Gly1176=) c.3501G>C (p.Gly1167=) c.3495G>C (p.Gly1165=) c.3489G>C (p.Gly1163=) c.3450G>C (p.Gly1150=) c.3438G>C (p.Gly1146=) c.3381G>C (p.Gly1127=) c.3357G>C (p.Gly1119=) c.3351G>C (p.Gly1117=) c.3333G>C (p.Gly1111=) c.3279G>C (p.Gly1093=) c.2586G>C (p.Gly862=) c.2499G>C (p.Gly833=) n.3775G>C | dbSNP |
17 | g.39727813G>T | CA499890721 | ERBB2 | c.3537G>T (p.Gly1179=) c.3447G>T (p.Gly1149=) c.2709G>T (p.Gly903=) c.3492G>T (p.Gly1164=) c.*3327G>T (n.*3327G>T) c.*116G>T (n.*116G>T) n.3861G>T c.3675G>T (p.Gly1225=) c.3630G>T (p.Gly1210=) c.3585G>T (p.Gly1195=) c.3654G>T (p.Gly1218=) c.3639G>T (p.Gly1213=) c.3618G>T (p.Gly1206=) c.3612G>T (p.Gly1204=) c.3567G>T (p.Gly1189=) c.3558G>T (p.Gly1186=) c.3534G>T (p.Gly1178=) c.3528G>T (p.Gly1176=) c.3501G>T (p.Gly1167=) c.3495G>T (p.Gly1165=) c.3489G>T (p.Gly1163=) c.3450G>T (p.Gly1150=) c.3438G>T (p.Gly1146=) c.3381G>T (p.Gly1127=) c.3357G>T (p.Gly1119=) c.3351G>T (p.Gly1117=) c.3333G>T (p.Gly1111=) c.3279G>T (p.Gly1093=) c.2586G>T (p.Gly862=) c.2499G>T (p.Gly833=) n.3775G>T | dbSNP |
17 | g.39727813_39727816delinsGGTC | CA2259229274 | ERBB2 | c.3537_3540delinsGGTC (p.Gly1179=) c.3447_3450delinsGGTC (p.Gly1149=) c.2709_2712delinsGGTC (p.Gly903=) c.3492_3495delinsGGTC (p.Gly1164=) c.*3327_*3330delinsGGTC (n.*3327_*3330delinsGGTC) c.*116_*119delinsGGTC (n.*116_*119delinsGGTC) n.3861_3864delinsGGTC c.3675_3678delinsGGTC (p.Gly1225=) c.3630_3633delinsGGTC (p.Gly1210=) c.3585_3588delinsGGTC (p.Gly1195=) c.3654_3657delinsGGTC (p.Gly1218=) c.3639_3642delinsGGTC (p.Gly1213=) c.3618_3621delinsGGTC (p.Gly1206=) c.3612_3615delinsGGTC (p.Gly1204=) c.3567_3570delinsGGTC (p.Gly1189=) c.3558_3561delinsGGTC (p.Gly1186=) c.3534_3537delinsGGTC (p.Gly1178=) c.3528_3531delinsGGTC (p.Gly1176=) c.3501_3504delinsGGTC (p.Gly1167=) c.3495_3498delinsGGTC (p.Gly1165=) c.3489_3492delinsGGTC (p.Gly1163=) c.3450_3453delinsGGTC (p.Gly1150=) c.3438_3441delinsGGTC (p.Gly1146=) c.3381_3384delinsGGTC (p.Gly1127=) c.3357_3360delinsGGTC (p.Gly1119=) c.3351_3354delinsGGTC (p.Gly1117=) c.3333_3336delinsGGTC (p.Gly1111=) c.3279_3282delinsGGTC (p.Gly1093=) c.2586_2589delinsGGTC (p.Gly862=) c.2499_2502delinsGGTC (p.Gly833=) n.3775_3778delinsGGTC | |
17 | g.39727814G>A | CA399313409 | ERBB2 | c.3538G>A (p.Val1180Ile) c.3448G>A (p.Val1150Ile) c.2710G>A (p.Val904Ile) c.3493G>A (p.Val1165Ile) c.*3328G>A (n.*3328G>A) c.*117G>A (n.*117G>A) n.3862G>A c.3676G>A (p.Val1226Ile) c.3631G>A (p.Val1211Ile) c.3586G>A (p.Val1196Ile) c.3655G>A (p.Val1219Ile) c.3640G>A (p.Val1214Ile) c.3619G>A (p.Val1207Ile) c.3613G>A (p.Val1205Ile) c.3568G>A (p.Val1190Ile) c.3559G>A (p.Val1187Ile) c.3535G>A (p.Val1179Ile) c.3529G>A (p.Val1177Ile) c.3502G>A (p.Val1168Ile) c.3496G>A (p.Val1166Ile) c.3490G>A (p.Val1164Ile) c.3451G>A (p.Val1151Ile) c.3439G>A (p.Val1147Ile) c.3382G>A (p.Val1128Ile) c.3358G>A (p.Val1120Ile) c.3352G>A (p.Val1118Ile) c.3334G>A (p.Val1112Ile) c.3280G>A (p.Val1094Ile) c.2587G>A (p.Val863Ile) c.2500G>A (p.Val834Ile) n.3776G>A | dbSNP |
17 | g.39727814G>C | CA399313411 | ERBB2 | c.3538G>C (p.Val1180Leu) c.3448G>C (p.Val1150Leu) c.2710G>C (p.Val904Leu) c.3493G>C (p.Val1165Leu) c.*3328G>C (n.*3328G>C) c.*117G>C (n.*117G>C) n.3862G>C c.3676G>C (p.Val1226Leu) c.3631G>C (p.Val1211Leu) c.3586G>C (p.Val1196Leu) c.3655G>C (p.Val1219Leu) c.3640G>C (p.Val1214Leu) c.3619G>C (p.Val1207Leu) c.3613G>C (p.Val1205Leu) c.3568G>C (p.Val1190Leu) c.3559G>C (p.Val1187Leu) c.3535G>C (p.Val1179Leu) c.3529G>C (p.Val1177Leu) c.3502G>C (p.Val1168Leu) c.3496G>C (p.Val1166Leu) c.3490G>C (p.Val1164Leu) c.3451G>C (p.Val1151Leu) c.3439G>C (p.Val1147Leu) c.3382G>C (p.Val1128Leu) c.3358G>C (p.Val1120Leu) c.3352G>C (p.Val1118Leu) c.3334G>C (p.Val1112Leu) c.3280G>C (p.Val1094Leu) c.2587G>C (p.Val863Leu) c.2500G>C (p.Val834Leu) n.3776G>C | dbSNP |
17 | g.39727814G>T | CA399313413 | ERBB2 | c.3538G>T (p.Val1180Phe) c.3448G>T (p.Val1150Phe) c.2710G>T (p.Val904Phe) c.3493G>T (p.Val1165Phe) c.*3328G>T (n.*3328G>T) c.*117G>T (n.*117G>T) n.3862G>T c.3676G>T (p.Val1226Phe) c.3631G>T (p.Val1211Phe) c.3586G>T (p.Val1196Phe) c.3655G>T (p.Val1219Phe) c.3640G>T (p.Val1214Phe) c.3619G>T (p.Val1207Phe) c.3613G>T (p.Val1205Phe) c.3568G>T (p.Val1190Phe) c.3559G>T (p.Val1187Phe) c.3535G>T (p.Val1179Phe) c.3529G>T (p.Val1177Phe) c.3502G>T (p.Val1168Phe) c.3496G>T (p.Val1166Phe) c.3490G>T (p.Val1164Phe) c.3451G>T (p.Val1151Phe) c.3439G>T (p.Val1147Phe) c.3382G>T (p.Val1128Phe) c.3358G>T (p.Val1120Phe) c.3352G>T (p.Val1118Phe) c.3334G>T (p.Val1112Phe) c.3280G>T (p.Val1094Phe) c.2587G>T (p.Val863Phe) c.2500G>T (p.Val834Phe) n.3776G>T | |
17 | g.39727817_39727819del | CA8534579 | ERBB2 | c.3541_3543del (p.Val1181del) c.3451_3453del (p.Val1151del) c.2713_2715del (p.Val905del) c.3496_3498del (p.Val1166del) c.*3331_*3333del (n.*3331_*3333del) c.*120_*122del (n.*120_*122del) n.3865_3867del c.3679_3681del (p.Val1227del) c.3634_3636del (p.Val1212del) c.3589_3591del (p.Val1197del) c.3658_3660del (p.Val1220del) c.3643_3645del (p.Val1215del) c.3622_3624del (p.Val1208del) c.3616_3618del (p.Val1206del) c.3571_3573del (p.Val1191del) c.3562_3564del (p.Val1188del) c.3538_3540del (p.Val1180del) c.3532_3534del (p.Val1178del) c.3505_3507del (p.Val1169del) c.3499_3501del (p.Val1167del) c.3493_3495del (p.Val1165del) c.3454_3456del (p.Val1152del) c.3442_3444del (p.Val1148del) c.3385_3387del (p.Val1129del) c.3361_3363del (p.Val1121del) c.3355_3357del (p.Val1119del) c.3337_3339del (p.Val1113del) c.3283_3285del (p.Val1095del) c.2590_2592del (p.Val864del) c.2503_2505del (p.Val835del) n.3779_3781del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727815T>A | CA399313421 | ERBB2 | c.3539T>A (p.Val1180Asp) c.3449T>A (p.Val1150Asp) c.2711T>A (p.Val904Asp) c.3494T>A (p.Val1165Asp) c.*3329T>A (n.*3329T>A) c.*118T>A (n.*118T>A) n.3863T>A c.3677T>A (p.Val1226Asp) c.3632T>A (p.Val1211Asp) c.3587T>A (p.Val1196Asp) c.3656T>A (p.Val1219Asp) c.3641T>A (p.Val1214Asp) c.3620T>A (p.Val1207Asp) c.3614T>A (p.Val1205Asp) c.3569T>A (p.Val1190Asp) c.3560T>A (p.Val1187Asp) c.3536T>A (p.Val1179Asp) c.3530T>A (p.Val1177Asp) c.3503T>A (p.Val1168Asp) c.3497T>A (p.Val1166Asp) c.3491T>A (p.Val1164Asp) c.3452T>A (p.Val1151Asp) c.3440T>A (p.Val1147Asp) c.3383T>A (p.Val1128Asp) c.3359T>A (p.Val1120Asp) c.3353T>A (p.Val1118Asp) c.3335T>A (p.Val1112Asp) c.3281T>A (p.Val1094Asp) c.2588T>A (p.Val863Asp) c.2501T>A (p.Val834Asp) n.3777T>A | dbSNP |
17 | g.39727815T>C | CA399313423 | ERBB2 | c.3539T>C (p.Val1180Ala) c.3449T>C (p.Val1150Ala) c.2711T>C (p.Val904Ala) c.3494T>C (p.Val1165Ala) c.*3329T>C (n.*3329T>C) c.*118T>C (n.*118T>C) n.3863T>C c.3677T>C (p.Val1226Ala) c.3632T>C (p.Val1211Ala) c.3587T>C (p.Val1196Ala) c.3656T>C (p.Val1219Ala) c.3641T>C (p.Val1214Ala) c.3620T>C (p.Val1207Ala) c.3614T>C (p.Val1205Ala) c.3569T>C (p.Val1190Ala) c.3560T>C (p.Val1187Ala) c.3536T>C (p.Val1179Ala) c.3530T>C (p.Val1177Ala) c.3503T>C (p.Val1168Ala) c.3497T>C (p.Val1166Ala) c.3491T>C (p.Val1164Ala) c.3452T>C (p.Val1151Ala) c.3440T>C (p.Val1147Ala) c.3383T>C (p.Val1128Ala) c.3359T>C (p.Val1120Ala) c.3353T>C (p.Val1118Ala) c.3335T>C (p.Val1112Ala) c.3281T>C (p.Val1094Ala) c.2588T>C (p.Val863Ala) c.2501T>C (p.Val834Ala) n.3777T>C | dbSNP |
17 | g.39727815T>G | CA399313424 | ERBB2 | c.3539T>G (p.Val1180Gly) c.3449T>G (p.Val1150Gly) c.2711T>G (p.Val904Gly) c.3494T>G (p.Val1165Gly) c.*3329T>G (n.*3329T>G) c.*118T>G (n.*118T>G) n.3863T>G c.3677T>G (p.Val1226Gly) c.3632T>G (p.Val1211Gly) c.3587T>G (p.Val1196Gly) c.3656T>G (p.Val1219Gly) c.3641T>G (p.Val1214Gly) c.3620T>G (p.Val1207Gly) c.3614T>G (p.Val1205Gly) c.3569T>G (p.Val1190Gly) c.3560T>G (p.Val1187Gly) c.3536T>G (p.Val1179Gly) c.3530T>G (p.Val1177Gly) c.3503T>G (p.Val1168Gly) c.3497T>G (p.Val1166Gly) c.3491T>G (p.Val1164Gly) c.3452T>G (p.Val1151Gly) c.3440T>G (p.Val1147Gly) c.3383T>G (p.Val1128Gly) c.3359T>G (p.Val1120Gly) c.3353T>G (p.Val1118Gly) c.3335T>G (p.Val1112Gly) c.3281T>G (p.Val1094Gly) c.2588T>G (p.Val863Gly) c.2501T>G (p.Val834Gly) n.3777T>G | dbSNP |
17 | g.39727816C>A | CA499890723 | ERBB2 | c.3540C>A (p.Val1180=) c.3450C>A (p.Val1150=) c.2712C>A (p.Val904=) c.3495C>A (p.Val1165=) c.*3330C>A (n.*3330C>A) c.*119C>A (n.*119C>A) n.3864C>A c.3678C>A (p.Val1226=) c.3633C>A (p.Val1211=) c.3588C>A (p.Val1196=) c.3657C>A (p.Val1219=) c.3642C>A (p.Val1214=) c.3621C>A (p.Val1207=) c.3615C>A (p.Val1205=) c.3570C>A (p.Val1190=) c.3561C>A (p.Val1187=) c.3537C>A (p.Val1179=) c.3531C>A (p.Val1177=) c.3504C>A (p.Val1168=) c.3498C>A (p.Val1166=) c.3492C>A (p.Val1164=) c.3453C>A (p.Val1151=) c.3441C>A (p.Val1147=) c.3384C>A (p.Val1128=) c.3360C>A (p.Val1120=) c.3354C>A (p.Val1118=) c.3336C>A (p.Val1112=) c.3282C>A (p.Val1094=) c.2589C>A (p.Val863=) c.2502C>A (p.Val834=) n.3778C>A | dbSNP |
17 | g.39727816C= | CA2259229275 | ERBB2 | c.3540C= (p.Val1180=) c.3450C= (p.Val1150=) c.2712C= (p.Val904=) c.3495C= (p.Val1165=) c.*3330C= (n.*3330C=) c.*119C= (n.*119C=) n.3864C= c.3678C= (p.Val1226=) c.3633C= (p.Val1211=) c.3588C= (p.Val1196=) c.3657C= (p.Val1219=) c.3642C= (p.Val1214=) c.3621C= (p.Val1207=) c.3615C= (p.Val1205=) c.3570C= (p.Val1190=) c.3561C= (p.Val1187=) c.3537C= (p.Val1179=) c.3531C= (p.Val1177=) c.3504C= (p.Val1168=) c.3498C= (p.Val1166=) c.3492C= (p.Val1164=) c.3453C= (p.Val1151=) c.3441C= (p.Val1147=) c.3384C= (p.Val1128=) c.3360C= (p.Val1120=) c.3354C= (p.Val1118=) c.3336C= (p.Val1112=) c.3282C= (p.Val1094=) c.2589C= (p.Val863=) c.2502C= (p.Val834=) n.3778C= | |
17 | g.39727816C>G | CA499890724 | ERBB2 | c.3540C>G (p.Val1180=) c.3450C>G (p.Val1150=) c.2712C>G (p.Val904=) c.3495C>G (p.Val1165=) c.*3330C>G (n.*3330C>G) c.*119C>G (n.*119C>G) n.3864C>G c.3678C>G (p.Val1226=) c.3633C>G (p.Val1211=) c.3588C>G (p.Val1196=) c.3657C>G (p.Val1219=) c.3642C>G (p.Val1214=) c.3621C>G (p.Val1207=) c.3615C>G (p.Val1205=) c.3570C>G (p.Val1190=) c.3561C>G (p.Val1187=) c.3537C>G (p.Val1179=) c.3531C>G (p.Val1177=) c.3504C>G (p.Val1168=) c.3498C>G (p.Val1166=) c.3492C>G (p.Val1164=) c.3453C>G (p.Val1151=) c.3441C>G (p.Val1147=) c.3384C>G (p.Val1128=) c.3360C>G (p.Val1120=) c.3354C>G (p.Val1118=) c.3336C>G (p.Val1112=) c.3282C>G (p.Val1094=) c.2589C>G (p.Val863=) c.2502C>G (p.Val834=) n.3778C>G | dbSNP |
17 | g.39727816C>T | CA8534580 | ERBB2 | c.3540C>T (p.Val1180=) c.3450C>T (p.Val1150=) c.2712C>T (p.Val904=) c.3495C>T (p.Val1165=) c.*3330C>T (n.*3330C>T) c.*119C>T (n.*119C>T) n.3864C>T c.3678C>T (p.Val1226=) c.3633C>T (p.Val1211=) c.3588C>T (p.Val1196=) c.3657C>T (p.Val1219=) c.3642C>T (p.Val1214=) c.3621C>T (p.Val1207=) c.3615C>T (p.Val1205=) c.3570C>T (p.Val1190=) c.3561C>T (p.Val1187=) c.3537C>T (p.Val1179=) c.3531C>T (p.Val1177=) c.3504C>T (p.Val1168=) c.3498C>T (p.Val1166=) c.3492C>T (p.Val1164=) c.3453C>T (p.Val1151=) c.3441C>T (p.Val1147=) c.3384C>T (p.Val1128=) c.3360C>T (p.Val1120=) c.3354C>T (p.Val1118=) c.3336C>T (p.Val1112=) c.3282C>T (p.Val1094=) c.2589C>T (p.Val863=) c.2502C>T (p.Val834=) n.3778C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727817G>A | CA8534581 | ERBB2 | c.3541G>A (p.Val1181Ile) c.3451G>A (p.Val1151Ile) c.2713G>A (p.Val905Ile) c.3496G>A (p.Val1166Ile) c.*3331G>A (n.*3331G>A) c.*120G>A (n.*120G>A) n.3865G>A c.3679G>A (p.Val1227Ile) c.3634G>A (p.Val1212Ile) c.3589G>A (p.Val1197Ile) c.3658G>A (p.Val1220Ile) c.3643G>A (p.Val1215Ile) c.3622G>A (p.Val1208Ile) c.3616G>A (p.Val1206Ile) c.3571G>A (p.Val1191Ile) c.3562G>A (p.Val1188Ile) c.3538G>A (p.Val1180Ile) c.3532G>A (p.Val1178Ile) c.3505G>A (p.Val1169Ile) c.3499G>A (p.Val1167Ile) c.3493G>A (p.Val1165Ile) c.3454G>A (p.Val1152Ile) c.3442G>A (p.Val1148Ile) c.3385G>A (p.Val1129Ile) c.3361G>A (p.Val1121Ile) c.3355G>A (p.Val1119Ile) c.3337G>A (p.Val1113Ile) c.3283G>A (p.Val1095Ile) c.2590G>A (p.Val864Ile) c.2503G>A (p.Val835Ile) n.3779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727817G>C | CA399313435 | ERBB2 | c.3541G>C (p.Val1181Leu) c.3451G>C (p.Val1151Leu) c.2713G>C (p.Val905Leu) c.3496G>C (p.Val1166Leu) c.*3331G>C (n.*3331G>C) c.*120G>C (n.*120G>C) n.3865G>C c.3679G>C (p.Val1227Leu) c.3634G>C (p.Val1212Leu) c.3589G>C (p.Val1197Leu) c.3658G>C (p.Val1220Leu) c.3643G>C (p.Val1215Leu) c.3622G>C (p.Val1208Leu) c.3616G>C (p.Val1206Leu) c.3571G>C (p.Val1191Leu) c.3562G>C (p.Val1188Leu) c.3538G>C (p.Val1180Leu) c.3532G>C (p.Val1178Leu) c.3505G>C (p.Val1169Leu) c.3499G>C (p.Val1167Leu) c.3493G>C (p.Val1165Leu) c.3454G>C (p.Val1152Leu) c.3442G>C (p.Val1148Leu) c.3385G>C (p.Val1129Leu) c.3361G>C (p.Val1121Leu) c.3355G>C (p.Val1119Leu) c.3337G>C (p.Val1113Leu) c.3283G>C (p.Val1095Leu) c.2590G>C (p.Val864Leu) c.2503G>C (p.Val835Leu) n.3779G>C | dbSNP |
17 | g.39727817G= | CA2259229276 | ERBB2 | c.3541G= (p.Val1181=) c.3451G= (p.Val1151=) c.2713G= (p.Val905=) c.3496G= (p.Val1166=) c.*3331G= (n.*3331G=) c.*120G= (n.*120G=) n.3865G= c.3679G= (p.Val1227=) c.3634G= (p.Val1212=) c.3589G= (p.Val1197=) c.3658G= (p.Val1220=) c.3643G= (p.Val1215=) c.3622G= (p.Val1208=) c.3616G= (p.Val1206=) c.3571G= (p.Val1191=) c.3562G= (p.Val1188=) c.3538G= (p.Val1180=) c.3532G= (p.Val1178=) c.3505G= (p.Val1169=) c.3499G= (p.Val1167=) c.3493G= (p.Val1165=) c.3454G= (p.Val1152=) c.3442G= (p.Val1148=) c.3385G= (p.Val1129=) c.3361G= (p.Val1121=) c.3355G= (p.Val1119=) c.3337G= (p.Val1113=) c.3283G= (p.Val1095=) c.2590G= (p.Val864=) c.2503G= (p.Val835=) n.3779G= | |
17 | g.39727817G>T | CA399313438 | ERBB2 | c.3541G>T (p.Val1181Phe) c.3451G>T (p.Val1151Phe) c.2713G>T (p.Val905Phe) c.3496G>T (p.Val1166Phe) c.*3331G>T (n.*3331G>T) c.*120G>T (n.*120G>T) n.3865G>T c.3679G>T (p.Val1227Phe) c.3634G>T (p.Val1212Phe) c.3589G>T (p.Val1197Phe) c.3658G>T (p.Val1220Phe) c.3643G>T (p.Val1215Phe) c.3622G>T (p.Val1208Phe) c.3616G>T (p.Val1206Phe) c.3571G>T (p.Val1191Phe) c.3562G>T (p.Val1188Phe) c.3538G>T (p.Val1180Phe) c.3532G>T (p.Val1178Phe) c.3505G>T (p.Val1169Phe) c.3499G>T (p.Val1167Phe) c.3493G>T (p.Val1165Phe) c.3454G>T (p.Val1152Phe) c.3442G>T (p.Val1148Phe) c.3385G>T (p.Val1129Phe) c.3361G>T (p.Val1121Phe) c.3355G>T (p.Val1119Phe) c.3337G>T (p.Val1113Phe) c.3283G>T (p.Val1095Phe) c.2590G>T (p.Val864Phe) c.2503G>T (p.Val835Phe) n.3779G>T | |
17 | g.39727818T>A | CA399313444 | ERBB2 | c.3542T>A (p.Val1181Asp) c.3452T>A (p.Val1151Asp) c.2714T>A (p.Val905Asp) c.3497T>A (p.Val1166Asp) c.*3332T>A (n.*3332T>A) c.*121T>A (n.*121T>A) n.3866T>A c.3680T>A (p.Val1227Asp) c.3635T>A (p.Val1212Asp) c.3590T>A (p.Val1197Asp) c.3659T>A (p.Val1220Asp) c.3644T>A (p.Val1215Asp) c.3623T>A (p.Val1208Asp) c.3617T>A (p.Val1206Asp) c.3572T>A (p.Val1191Asp) c.3563T>A (p.Val1188Asp) c.3539T>A (p.Val1180Asp) c.3533T>A (p.Val1178Asp) c.3506T>A (p.Val1169Asp) c.3500T>A (p.Val1167Asp) c.3494T>A (p.Val1165Asp) c.3455T>A (p.Val1152Asp) c.3443T>A (p.Val1148Asp) c.3386T>A (p.Val1129Asp) c.3362T>A (p.Val1121Asp) c.3356T>A (p.Val1119Asp) c.3338T>A (p.Val1113Asp) c.3284T>A (p.Val1095Asp) c.2591T>A (p.Val864Asp) c.2504T>A (p.Val835Asp) n.3780T>A | dbSNP |
17 | g.39727818T>C | CA399313446 | ERBB2 | c.3542T>C (p.Val1181Ala) c.3452T>C (p.Val1151Ala) c.2714T>C (p.Val905Ala) c.3497T>C (p.Val1166Ala) c.*3332T>C (n.*3332T>C) c.*121T>C (n.*121T>C) n.3866T>C c.3680T>C (p.Val1227Ala) c.3635T>C (p.Val1212Ala) c.3590T>C (p.Val1197Ala) c.3659T>C (p.Val1220Ala) c.3644T>C (p.Val1215Ala) c.3623T>C (p.Val1208Ala) c.3617T>C (p.Val1206Ala) c.3572T>C (p.Val1191Ala) c.3563T>C (p.Val1188Ala) c.3539T>C (p.Val1180Ala) c.3533T>C (p.Val1178Ala) c.3506T>C (p.Val1169Ala) c.3500T>C (p.Val1167Ala) c.3494T>C (p.Val1165Ala) c.3455T>C (p.Val1152Ala) c.3443T>C (p.Val1148Ala) c.3386T>C (p.Val1129Ala) c.3362T>C (p.Val1121Ala) c.3356T>C (p.Val1119Ala) c.3338T>C (p.Val1113Ala) c.3284T>C (p.Val1095Ala) c.2591T>C (p.Val864Ala) c.2504T>C (p.Val835Ala) n.3780T>C | dbSNP |
17 | g.39727818T>G | CA399313450 | ERBB2 | c.3542T>G (p.Val1181Gly) c.3452T>G (p.Val1151Gly) c.2714T>G (p.Val905Gly) c.3497T>G (p.Val1166Gly) c.*3332T>G (n.*3332T>G) c.*121T>G (n.*121T>G) n.3866T>G c.3680T>G (p.Val1227Gly) c.3635T>G (p.Val1212Gly) c.3590T>G (p.Val1197Gly) c.3659T>G (p.Val1220Gly) c.3644T>G (p.Val1215Gly) c.3623T>G (p.Val1208Gly) c.3617T>G (p.Val1206Gly) c.3572T>G (p.Val1191Gly) c.3563T>G (p.Val1188Gly) c.3539T>G (p.Val1180Gly) c.3533T>G (p.Val1178Gly) c.3506T>G (p.Val1169Gly) c.3500T>G (p.Val1167Gly) c.3494T>G (p.Val1165Gly) c.3455T>G (p.Val1152Gly) c.3443T>G (p.Val1148Gly) c.3386T>G (p.Val1129Gly) c.3362T>G (p.Val1121Gly) c.3356T>G (p.Val1119Gly) c.3338T>G (p.Val1113Gly) c.3284T>G (p.Val1095Gly) c.2591T>G (p.Val864Gly) c.2504T>G (p.Val835Gly) n.3780T>G | dbSNP |
17 | g.39727819C>A | CA499890725 | ERBB2 | c.3543C>A (p.Val1181=) c.3453C>A (p.Val1151=) c.2715C>A (p.Val905=) c.3498C>A (p.Val1166=) c.*3333C>A (n.*3333C>A) c.*122C>A (n.*122C>A) n.3867C>A c.3681C>A (p.Val1227=) c.3636C>A (p.Val1212=) c.3591C>A (p.Val1197=) c.3660C>A (p.Val1220=) c.3645C>A (p.Val1215=) c.3624C>A (p.Val1208=) c.3618C>A (p.Val1206=) c.3573C>A (p.Val1191=) c.3564C>A (p.Val1188=) c.3540C>A (p.Val1180=) c.3534C>A (p.Val1178=) c.3507C>A (p.Val1169=) c.3501C>A (p.Val1167=) c.3495C>A (p.Val1165=) c.3456C>A (p.Val1152=) c.3444C>A (p.Val1148=) c.3387C>A (p.Val1129=) c.3363C>A (p.Val1121=) c.3357C>A (p.Val1119=) c.3339C>A (p.Val1113=) c.3285C>A (p.Val1095=) c.2592C>A (p.Val864=) c.2505C>A (p.Val835=) n.3781C>A | dbSNP |
17 | g.39727819C>G | CA499890726 | ERBB2 | c.3543C>G (p.Val1181=) c.3453C>G (p.Val1151=) c.2715C>G (p.Val905=) c.3498C>G (p.Val1166=) c.*3333C>G (n.*3333C>G) c.*122C>G (n.*122C>G) n.3867C>G c.3681C>G (p.Val1227=) c.3636C>G (p.Val1212=) c.3591C>G (p.Val1197=) c.3660C>G (p.Val1220=) c.3645C>G (p.Val1215=) c.3624C>G (p.Val1208=) c.3618C>G (p.Val1206=) c.3573C>G (p.Val1191=) c.3564C>G (p.Val1188=) c.3540C>G (p.Val1180=) c.3534C>G (p.Val1178=) c.3507C>G (p.Val1169=) c.3501C>G (p.Val1167=) c.3495C>G (p.Val1165=) c.3456C>G (p.Val1152=) c.3444C>G (p.Val1148=) c.3387C>G (p.Val1129=) c.3363C>G (p.Val1121=) c.3357C>G (p.Val1119=) c.3339C>G (p.Val1113=) c.3285C>G (p.Val1095=) c.2592C>G (p.Val864=) c.2505C>G (p.Val835=) n.3781C>G | dbSNP |
17 | g.39727819C>T | CA499890727 | ERBB2 | c.3543C>T (p.Val1181=) c.3453C>T (p.Val1151=) c.2715C>T (p.Val905=) c.3498C>T (p.Val1166=) c.*3333C>T (n.*3333C>T) c.*122C>T (n.*122C>T) n.3867C>T c.3681C>T (p.Val1227=) c.3636C>T (p.Val1212=) c.3591C>T (p.Val1197=) c.3660C>T (p.Val1220=) c.3645C>T (p.Val1215=) c.3624C>T (p.Val1208=) c.3618C>T (p.Val1206=) c.3573C>T (p.Val1191=) c.3564C>T (p.Val1188=) c.3540C>T (p.Val1180=) c.3534C>T (p.Val1178=) c.3507C>T (p.Val1169=) c.3501C>T (p.Val1167=) c.3495C>T (p.Val1165=) c.3456C>T (p.Val1152=) c.3444C>T (p.Val1148=) c.3387C>T (p.Val1129=) c.3363C>T (p.Val1121=) c.3357C>T (p.Val1119=) c.3339C>T (p.Val1113=) c.3285C>T (p.Val1095=) c.2592C>T (p.Val864=) c.2505C>T (p.Val835=) n.3781C>T | dbSNP |
17 | g.39727820A= | CA2259229277 | ERBB2 | c.3544A= (p.Lys1182=) c.3454A= (p.Lys1152=) c.2716A= (p.Lys906=) c.3499A= (p.Lys1167=) c.*3334A= (n.*3334A=) c.*123A= (n.*123A=) n.3868A= c.3682A= (p.Lys1228=) c.3637A= (p.Lys1213=) c.3592A= (p.Lys1198=) c.3661A= (p.Lys1221=) c.3646A= (p.Lys1216=) c.3625A= (p.Lys1209=) c.3619A= (p.Lys1207=) c.3574A= (p.Lys1192=) c.3565A= (p.Lys1189=) c.3541A= (p.Lys1181=) c.3535A= (p.Lys1179=) c.3508A= (p.Lys1170=) c.3502A= (p.Lys1168=) c.3496A= (p.Lys1166=) c.3457A= (p.Lys1153=) c.3445A= (p.Lys1149=) c.3388A= (p.Lys1130=) c.3364A= (p.Lys1122=) c.3358A= (p.Lys1120=) c.3340A= (p.Lys1114=) c.3286A= (p.Lys1096=) c.2593A= (p.Lys865=) c.2506A= (p.Lys836=) n.3782A= | |
17 | g.39727820A>C | CA8534582 | ERBB2 | c.3544A>C (p.Lys1182Gln) c.3454A>C (p.Lys1152Gln) c.2716A>C (p.Lys906Gln) c.3499A>C (p.Lys1167Gln) c.*3334A>C (n.*3334A>C) c.*123A>C (n.*123A>C) n.3868A>C c.3682A>C (p.Lys1228Gln) c.3637A>C (p.Lys1213Gln) c.3592A>C (p.Lys1198Gln) c.3661A>C (p.Lys1221Gln) c.3646A>C (p.Lys1216Gln) c.3625A>C (p.Lys1209Gln) c.3619A>C (p.Lys1207Gln) c.3574A>C (p.Lys1192Gln) c.3565A>C (p.Lys1189Gln) c.3541A>C (p.Lys1181Gln) c.3535A>C (p.Lys1179Gln) c.3508A>C (p.Lys1170Gln) c.3502A>C (p.Lys1168Gln) c.3496A>C (p.Lys1166Gln) c.3457A>C (p.Lys1153Gln) c.3445A>C (p.Lys1149Gln) c.3388A>C (p.Lys1130Gln) c.3364A>C (p.Lys1122Gln) c.3358A>C (p.Lys1120Gln) c.3340A>C (p.Lys1114Gln) c.3286A>C (p.Lys1096Gln) c.2593A>C (p.Lys865Gln) c.2506A>C (p.Lys836Gln) n.3782A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727820A>G | CA399313454 | ERBB2 | c.3544A>G (p.Lys1182Glu) c.3454A>G (p.Lys1152Glu) c.2716A>G (p.Lys906Glu) c.3499A>G (p.Lys1167Glu) c.*3334A>G (n.*3334A>G) c.*123A>G (n.*123A>G) n.3868A>G c.3682A>G (p.Lys1228Glu) c.3637A>G (p.Lys1213Glu) c.3592A>G (p.Lys1198Glu) c.3661A>G (p.Lys1221Glu) c.3646A>G (p.Lys1216Glu) c.3625A>G (p.Lys1209Glu) c.3619A>G (p.Lys1207Glu) c.3574A>G (p.Lys1192Glu) c.3565A>G (p.Lys1189Glu) c.3541A>G (p.Lys1181Glu) c.3535A>G (p.Lys1179Glu) c.3508A>G (p.Lys1170Glu) c.3502A>G (p.Lys1168Glu) c.3496A>G (p.Lys1166Glu) c.3457A>G (p.Lys1153Glu) c.3445A>G (p.Lys1149Glu) c.3388A>G (p.Lys1130Glu) c.3364A>G (p.Lys1122Glu) c.3358A>G (p.Lys1120Glu) c.3340A>G (p.Lys1114Glu) c.3286A>G (p.Lys1096Glu) c.2593A>G (p.Lys865Glu) c.2506A>G (p.Lys836Glu) n.3782A>G | dbSNP gnomAD v4 |
17 | g.39727820A>T | CA399313457 | ERBB2 | c.3544A>T (p.Lys1182Ter) c.3454A>T (p.Lys1152Ter) c.2716A>T (p.Lys906Ter) c.3499A>T (p.Lys1167Ter) c.*3334A>T (n.*3334A>T) c.*123A>T (n.*123A>T) n.3868A>T c.3682A>T (p.Lys1228Ter) c.3637A>T (p.Lys1213Ter) c.3592A>T (p.Lys1198Ter) c.3661A>T (p.Lys1221Ter) c.3646A>T (p.Lys1216Ter) c.3625A>T (p.Lys1209Ter) c.3619A>T (p.Lys1207Ter) c.3574A>T (p.Lys1192Ter) c.3565A>T (p.Lys1189Ter) c.3541A>T (p.Lys1181Ter) c.3535A>T (p.Lys1179Ter) c.3508A>T (p.Lys1170Ter) c.3502A>T (p.Lys1168Ter) c.3496A>T (p.Lys1166Ter) c.3457A>T (p.Lys1153Ter) c.3445A>T (p.Lys1149Ter) c.3388A>T (p.Lys1130Ter) c.3364A>T (p.Lys1122Ter) c.3358A>T (p.Lys1120Ter) c.3340A>T (p.Lys1114Ter) c.3286A>T (p.Lys1096Ter) c.2593A>T (p.Lys865Ter) c.2506A>T (p.Lys836Ter) n.3782A>T | dbSNP |
17 | g.39727821A= | CA2259229278 | ERBB2 | c.3545A= (p.Lys1182=) c.3455A= (p.Lys1152=) c.2717A= (p.Lys906=) c.3500A= (p.Lys1167=) c.*3335A= (n.*3335A=) c.*124A= (n.*124A=) n.3869A= c.3683A= (p.Lys1228=) c.3638A= (p.Lys1213=) c.3593A= (p.Lys1198=) c.3662A= (p.Lys1221=) c.3647A= (p.Lys1216=) c.3626A= (p.Lys1209=) c.3620A= (p.Lys1207=) c.3575A= (p.Lys1192=) c.3566A= (p.Lys1189=) c.3542A= (p.Lys1181=) c.3536A= (p.Lys1179=) c.3509A= (p.Lys1170=) c.3503A= (p.Lys1168=) c.3497A= (p.Lys1166=) c.3458A= (p.Lys1153=) c.3446A= (p.Lys1149=) c.3389A= (p.Lys1130=) c.3365A= (p.Lys1122=) c.3359A= (p.Lys1120=) c.3341A= (p.Lys1114=) c.3287A= (p.Lys1096=) c.2594A= (p.Lys865=) c.2507A= (p.Lys836=) n.3783A= | |
17 | g.39727821A>C | CA399313461 | ERBB2 | c.3545A>C (p.Lys1182Thr) c.3455A>C (p.Lys1152Thr) c.2717A>C (p.Lys906Thr) c.3500A>C (p.Lys1167Thr) c.*3335A>C (n.*3335A>C) c.*124A>C (n.*124A>C) n.3869A>C c.3683A>C (p.Lys1228Thr) c.3638A>C (p.Lys1213Thr) c.3593A>C (p.Lys1198Thr) c.3662A>C (p.Lys1221Thr) c.3647A>C (p.Lys1216Thr) c.3626A>C (p.Lys1209Thr) c.3620A>C (p.Lys1207Thr) c.3575A>C (p.Lys1192Thr) c.3566A>C (p.Lys1189Thr) c.3542A>C (p.Lys1181Thr) c.3536A>C (p.Lys1179Thr) c.3509A>C (p.Lys1170Thr) c.3503A>C (p.Lys1168Thr) c.3497A>C (p.Lys1166Thr) c.3458A>C (p.Lys1153Thr) c.3446A>C (p.Lys1149Thr) c.3389A>C (p.Lys1130Thr) c.3365A>C (p.Lys1122Thr) c.3359A>C (p.Lys1120Thr) c.3341A>C (p.Lys1114Thr) c.3287A>C (p.Lys1096Thr) c.2594A>C (p.Lys865Thr) c.2507A>C (p.Lys836Thr) n.3783A>C | dbSNP |
17 | g.39727821A>G | CA8534583 | ERBB2 | c.3545A>G (p.Lys1182Arg) c.3455A>G (p.Lys1152Arg) c.2717A>G (p.Lys906Arg) c.3500A>G (p.Lys1167Arg) c.*3335A>G (n.*3335A>G) c.*124A>G (n.*124A>G) n.3869A>G c.3683A>G (p.Lys1228Arg) c.3638A>G (p.Lys1213Arg) c.3593A>G (p.Lys1198Arg) c.3662A>G (p.Lys1221Arg) c.3647A>G (p.Lys1216Arg) c.3626A>G (p.Lys1209Arg) c.3620A>G (p.Lys1207Arg) c.3575A>G (p.Lys1192Arg) c.3566A>G (p.Lys1189Arg) c.3542A>G (p.Lys1181Arg) c.3536A>G (p.Lys1179Arg) c.3509A>G (p.Lys1170Arg) c.3503A>G (p.Lys1168Arg) c.3497A>G (p.Lys1166Arg) c.3458A>G (p.Lys1153Arg) c.3446A>G (p.Lys1149Arg) c.3389A>G (p.Lys1130Arg) c.3365A>G (p.Lys1122Arg) c.3359A>G (p.Lys1120Arg) c.3341A>G (p.Lys1114Arg) c.3287A>G (p.Lys1096Arg) c.2594A>G (p.Lys865Arg) c.2507A>G (p.Lys836Arg) n.3783A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727821A>T | CA399313465 | ERBB2 | c.3545A>T (p.Lys1182Ile) c.3455A>T (p.Lys1152Ile) c.2717A>T (p.Lys906Ile) c.3500A>T (p.Lys1167Ile) c.*3335A>T (n.*3335A>T) c.*124A>T (n.*124A>T) n.3869A>T c.3683A>T (p.Lys1228Ile) c.3638A>T (p.Lys1213Ile) c.3593A>T (p.Lys1198Ile) c.3662A>T (p.Lys1221Ile) c.3647A>T (p.Lys1216Ile) c.3626A>T (p.Lys1209Ile) c.3620A>T (p.Lys1207Ile) c.3575A>T (p.Lys1192Ile) c.3566A>T (p.Lys1189Ile) c.3542A>T (p.Lys1181Ile) c.3536A>T (p.Lys1179Ile) c.3509A>T (p.Lys1170Ile) c.3503A>T (p.Lys1168Ile) c.3497A>T (p.Lys1166Ile) c.3458A>T (p.Lys1153Ile) c.3446A>T (p.Lys1149Ile) c.3389A>T (p.Lys1130Ile) c.3365A>T (p.Lys1122Ile) c.3359A>T (p.Lys1120Ile) c.3341A>T (p.Lys1114Ile) c.3287A>T (p.Lys1096Ile) c.2594A>T (p.Lys865Ile) c.2507A>T (p.Lys836Ile) n.3783A>T | dbSNP |
17 | g.39727822A>C | CA399313469 | ERBB2 | c.3546A>C (p.Lys1182Asn) c.3456A>C (p.Lys1152Asn) c.2718A>C (p.Lys906Asn) c.3501A>C (p.Lys1167Asn) c.*3336A>C (n.*3336A>C) c.*125A>C (n.*125A>C) n.3870A>C c.3684A>C (p.Lys1228Asn) c.3639A>C (p.Lys1213Asn) c.3594A>C (p.Lys1198Asn) c.3663A>C (p.Lys1221Asn) c.3648A>C (p.Lys1216Asn) c.3627A>C (p.Lys1209Asn) c.3621A>C (p.Lys1207Asn) c.3576A>C (p.Lys1192Asn) c.3567A>C (p.Lys1189Asn) c.3543A>C (p.Lys1181Asn) c.3537A>C (p.Lys1179Asn) c.3510A>C (p.Lys1170Asn) c.3504A>C (p.Lys1168Asn) c.3498A>C (p.Lys1166Asn) c.3459A>C (p.Lys1153Asn) c.3447A>C (p.Lys1149Asn) c.3390A>C (p.Lys1130Asn) c.3366A>C (p.Lys1122Asn) c.3360A>C (p.Lys1120Asn) c.3342A>C (p.Lys1114Asn) c.3288A>C (p.Lys1096Asn) c.2595A>C (p.Lys865Asn) c.2508A>C (p.Lys836Asn) n.3784A>C | |
17 | g.39727822A>G | CA499890728 | ERBB2 | c.3546A>G (p.Lys1182=) c.3456A>G (p.Lys1152=) c.2718A>G (p.Lys906=) c.3501A>G (p.Lys1167=) c.*3336A>G (n.*3336A>G) c.*125A>G (n.*125A>G) n.3870A>G c.3684A>G (p.Lys1228=) c.3639A>G (p.Lys1213=) c.3594A>G (p.Lys1198=) c.3663A>G (p.Lys1221=) c.3648A>G (p.Lys1216=) c.3627A>G (p.Lys1209=) c.3621A>G (p.Lys1207=) c.3576A>G (p.Lys1192=) c.3567A>G (p.Lys1189=) c.3543A>G (p.Lys1181=) c.3537A>G (p.Lys1179=) c.3510A>G (p.Lys1170=) c.3504A>G (p.Lys1168=) c.3498A>G (p.Lys1166=) c.3459A>G (p.Lys1153=) c.3447A>G (p.Lys1149=) c.3390A>G (p.Lys1130=) c.3366A>G (p.Lys1122=) c.3360A>G (p.Lys1120=) c.3342A>G (p.Lys1114=) c.3288A>G (p.Lys1096=) c.2595A>G (p.Lys865=) c.2508A>G (p.Lys836=) n.3784A>G | |
17 | g.39727822A>T | CA399313473 | ERBB2 | c.3546A>T (p.Lys1182Asn) c.3456A>T (p.Lys1152Asn) c.2718A>T (p.Lys906Asn) c.3501A>T (p.Lys1167Asn) c.*3336A>T (n.*3336A>T) c.*125A>T (n.*125A>T) n.3870A>T c.3684A>T (p.Lys1228Asn) c.3639A>T (p.Lys1213Asn) c.3594A>T (p.Lys1198Asn) c.3663A>T (p.Lys1221Asn) c.3648A>T (p.Lys1216Asn) c.3627A>T (p.Lys1209Asn) c.3621A>T (p.Lys1207Asn) c.3576A>T (p.Lys1192Asn) c.3567A>T (p.Lys1189Asn) c.3543A>T (p.Lys1181Asn) c.3537A>T (p.Lys1179Asn) c.3510A>T (p.Lys1170Asn) c.3504A>T (p.Lys1168Asn) c.3498A>T (p.Lys1166Asn) c.3459A>T (p.Lys1153Asn) c.3447A>T (p.Lys1149Asn) c.3390A>T (p.Lys1130Asn) c.3366A>T (p.Lys1122Asn) c.3360A>T (p.Lys1120Asn) c.3342A>T (p.Lys1114Asn) c.3288A>T (p.Lys1096Asn) c.2595A>T (p.Lys865Asn) c.2508A>T (p.Lys836Asn) n.3784A>T | |
17 | g.39727823G>A | CA399313482 | ERBB2 | c.3547G>A (p.Asp1183Asn) c.3457G>A (p.Asp1153Asn) c.2719G>A (p.Asp907Asn) c.3502G>A (p.Asp1168Asn) c.*3337G>A (n.*3337G>A) c.*126G>A (n.*126G>A) n.3871G>A c.3685G>A (p.Asp1229Asn) c.3640G>A (p.Asp1214Asn) c.3595G>A (p.Asp1199Asn) c.3664G>A (p.Asp1222Asn) c.3649G>A (p.Asp1217Asn) c.3628G>A (p.Asp1210Asn) c.3622G>A (p.Asp1208Asn) c.3577G>A (p.Asp1193Asn) c.3568G>A (p.Asp1190Asn) c.3544G>A (p.Asp1182Asn) c.3538G>A (p.Asp1180Asn) c.3511G>A (p.Asp1171Asn) c.3505G>A (p.Asp1169Asn) c.3499G>A (p.Asp1167Asn) c.3460G>A (p.Asp1154Asn) c.3448G>A (p.Asp1150Asn) c.3391G>A (p.Asp1131Asn) c.3367G>A (p.Asp1123Asn) c.3361G>A (p.Asp1121Asn) c.3343G>A (p.Asp1115Asn) c.3289G>A (p.Asp1097Asn) c.2596G>A (p.Asp866Asn) c.2509G>A (p.Asp837Asn) n.3785G>A | dbSNP |
17 | g.39727823G>C | CA399313478 | ERBB2 | c.3547G>C (p.Asp1183His) c.3457G>C (p.Asp1153His) c.2719G>C (p.Asp907His) c.3502G>C (p.Asp1168His) c.*3337G>C (n.*3337G>C) c.*126G>C (n.*126G>C) n.3871G>C c.3685G>C (p.Asp1229His) c.3640G>C (p.Asp1214His) c.3595G>C (p.Asp1199His) c.3664G>C (p.Asp1222His) c.3649G>C (p.Asp1217His) c.3628G>C (p.Asp1210His) c.3622G>C (p.Asp1208His) c.3577G>C (p.Asp1193His) c.3568G>C (p.Asp1190His) c.3544G>C (p.Asp1182His) c.3538G>C (p.Asp1180His) c.3511G>C (p.Asp1171His) c.3505G>C (p.Asp1169His) c.3499G>C (p.Asp1167His) c.3460G>C (p.Asp1154His) c.3448G>C (p.Asp1150His) c.3391G>C (p.Asp1131His) c.3367G>C (p.Asp1123His) c.3361G>C (p.Asp1121His) c.3343G>C (p.Asp1115His) c.3289G>C (p.Asp1097His) c.2596G>C (p.Asp866His) c.2509G>C (p.Asp837His) n.3785G>C | dbSNP |
17 | g.39727823G>T | CA399313480 | ERBB2 | c.3547G>T (p.Asp1183Tyr) c.3457G>T (p.Asp1153Tyr) c.2719G>T (p.Asp907Tyr) c.3502G>T (p.Asp1168Tyr) c.*3337G>T (n.*3337G>T) c.*126G>T (n.*126G>T) n.3871G>T c.3685G>T (p.Asp1229Tyr) c.3640G>T (p.Asp1214Tyr) c.3595G>T (p.Asp1199Tyr) c.3664G>T (p.Asp1222Tyr) c.3649G>T (p.Asp1217Tyr) c.3628G>T (p.Asp1210Tyr) c.3622G>T (p.Asp1208Tyr) c.3577G>T (p.Asp1193Tyr) c.3568G>T (p.Asp1190Tyr) c.3544G>T (p.Asp1182Tyr) c.3538G>T (p.Asp1180Tyr) c.3511G>T (p.Asp1171Tyr) c.3505G>T (p.Asp1169Tyr) c.3499G>T (p.Asp1167Tyr) c.3460G>T (p.Asp1154Tyr) c.3448G>T (p.Asp1150Tyr) c.3391G>T (p.Asp1131Tyr) c.3367G>T (p.Asp1123Tyr) c.3361G>T (p.Asp1121Tyr) c.3343G>T (p.Asp1115Tyr) c.3289G>T (p.Asp1097Tyr) c.2596G>T (p.Asp866Tyr) c.2509G>T (p.Asp837Tyr) n.3785G>T | dbSNP |
17 | g.39727824A>C | CA399313485 | ERBB2 | c.3548A>C (p.Asp1183Ala) c.3458A>C (p.Asp1153Ala) c.2720A>C (p.Asp907Ala) c.3503A>C (p.Asp1168Ala) c.*3338A>C (n.*3338A>C) c.*127A>C (n.*127A>C) n.3872A>C c.3686A>C (p.Asp1229Ala) c.3641A>C (p.Asp1214Ala) c.3596A>C (p.Asp1199Ala) c.3665A>C (p.Asp1222Ala) c.3650A>C (p.Asp1217Ala) c.3629A>C (p.Asp1210Ala) c.3623A>C (p.Asp1208Ala) c.3578A>C (p.Asp1193Ala) c.3569A>C (p.Asp1190Ala) c.3545A>C (p.Asp1182Ala) c.3539A>C (p.Asp1180Ala) c.3512A>C (p.Asp1171Ala) c.3506A>C (p.Asp1169Ala) c.3500A>C (p.Asp1167Ala) c.3461A>C (p.Asp1154Ala) c.3449A>C (p.Asp1150Ala) c.3392A>C (p.Asp1131Ala) c.3368A>C (p.Asp1123Ala) c.3362A>C (p.Asp1121Ala) c.3344A>C (p.Asp1115Ala) c.3290A>C (p.Asp1097Ala) c.2597A>C (p.Asp866Ala) c.2510A>C (p.Asp837Ala) n.3786A>C | dbSNP |
17 | g.39727824A>G | CA399313487 | ERBB2 | c.3548A>G (p.Asp1183Gly) c.3458A>G (p.Asp1153Gly) c.2720A>G (p.Asp907Gly) c.3503A>G (p.Asp1168Gly) c.*3338A>G (n.*3338A>G) c.*127A>G (n.*127A>G) n.3872A>G c.3686A>G (p.Asp1229Gly) c.3641A>G (p.Asp1214Gly) c.3596A>G (p.Asp1199Gly) c.3665A>G (p.Asp1222Gly) c.3650A>G (p.Asp1217Gly) c.3629A>G (p.Asp1210Gly) c.3623A>G (p.Asp1208Gly) c.3578A>G (p.Asp1193Gly) c.3569A>G (p.Asp1190Gly) c.3545A>G (p.Asp1182Gly) c.3539A>G (p.Asp1180Gly) c.3512A>G (p.Asp1171Gly) c.3506A>G (p.Asp1169Gly) c.3500A>G (p.Asp1167Gly) c.3461A>G (p.Asp1154Gly) c.3449A>G (p.Asp1150Gly) c.3392A>G (p.Asp1131Gly) c.3368A>G (p.Asp1123Gly) c.3362A>G (p.Asp1121Gly) c.3344A>G (p.Asp1115Gly) c.3290A>G (p.Asp1097Gly) c.2597A>G (p.Asp866Gly) c.2510A>G (p.Asp837Gly) n.3786A>G | dbSNP |
17 | g.39727824A>T | CA399313490 | ERBB2 | c.3548A>T (p.Asp1183Val) c.3458A>T (p.Asp1153Val) c.2720A>T (p.Asp907Val) c.3503A>T (p.Asp1168Val) c.*3338A>T (n.*3338A>T) c.*127A>T (n.*127A>T) n.3872A>T c.3686A>T (p.Asp1229Val) c.3641A>T (p.Asp1214Val) c.3596A>T (p.Asp1199Val) c.3665A>T (p.Asp1222Val) c.3650A>T (p.Asp1217Val) c.3629A>T (p.Asp1210Val) c.3623A>T (p.Asp1208Val) c.3578A>T (p.Asp1193Val) c.3569A>T (p.Asp1190Val) c.3545A>T (p.Asp1182Val) c.3539A>T (p.Asp1180Val) c.3512A>T (p.Asp1171Val) c.3506A>T (p.Asp1169Val) c.3500A>T (p.Asp1167Val) c.3461A>T (p.Asp1154Val) c.3449A>T (p.Asp1150Val) c.3392A>T (p.Asp1131Val) c.3368A>T (p.Asp1123Val) c.3362A>T (p.Asp1121Val) c.3344A>T (p.Asp1115Val) c.3290A>T (p.Asp1097Val) c.2597A>T (p.Asp866Val) c.2510A>T (p.Asp837Val) n.3786A>T | dbSNP |
17 | g.39727825C>A | CA399313494 | ERBB2 | c.3549C>A (p.Asp1183Glu) c.3459C>A (p.Asp1153Glu) c.2721C>A (p.Asp907Glu) c.3504C>A (p.Asp1168Glu) c.*3339C>A (n.*3339C>A) c.*128C>A (n.*128C>A) n.3873C>A c.3687C>A (p.Asp1229Glu) c.3642C>A (p.Asp1214Glu) c.3597C>A (p.Asp1199Glu) c.3666C>A (p.Asp1222Glu) c.3651C>A (p.Asp1217Glu) c.3630C>A (p.Asp1210Glu) c.3624C>A (p.Asp1208Glu) c.3579C>A (p.Asp1193Glu) c.3570C>A (p.Asp1190Glu) c.3546C>A (p.Asp1182Glu) c.3540C>A (p.Asp1180Glu) c.3513C>A (p.Asp1171Glu) c.3507C>A (p.Asp1169Glu) c.3501C>A (p.Asp1167Glu) c.3462C>A (p.Asp1154Glu) c.3450C>A (p.Asp1150Glu) c.3393C>A (p.Asp1131Glu) c.3369C>A (p.Asp1123Glu) c.3363C>A (p.Asp1121Glu) c.3345C>A (p.Asp1115Glu) c.3291C>A (p.Asp1097Glu) c.2598C>A (p.Asp866Glu) c.2511C>A (p.Asp837Glu) n.3787C>A | dbSNP |
17 | g.39727825C= | CA2259229279 | ERBB2 | c.3549C= (p.Asp1183=) c.3459C= (p.Asp1153=) c.2721C= (p.Asp907=) c.3504C= (p.Asp1168=) c.*3339C= (n.*3339C=) c.*128C= (n.*128C=) n.3873C= c.3687C= (p.Asp1229=) c.3642C= (p.Asp1214=) c.3597C= (p.Asp1199=) c.3666C= (p.Asp1222=) c.3651C= (p.Asp1217=) c.3630C= (p.Asp1210=) c.3624C= (p.Asp1208=) c.3579C= (p.Asp1193=) c.3570C= (p.Asp1190=) c.3546C= (p.Asp1182=) c.3540C= (p.Asp1180=) c.3513C= (p.Asp1171=) c.3507C= (p.Asp1169=) c.3501C= (p.Asp1167=) c.3462C= (p.Asp1154=) c.3450C= (p.Asp1150=) c.3393C= (p.Asp1131=) c.3369C= (p.Asp1123=) c.3363C= (p.Asp1121=) c.3345C= (p.Asp1115=) c.3291C= (p.Asp1097=) c.2598C= (p.Asp866=) c.2511C= (p.Asp837=) n.3787C= | |
17 | g.39727825C>G | CA399313502 | ERBB2 | c.3549C>G (p.Asp1183Glu) c.3459C>G (p.Asp1153Glu) c.2721C>G (p.Asp907Glu) c.3504C>G (p.Asp1168Glu) c.*3339C>G (n.*3339C>G) c.*128C>G (n.*128C>G) n.3873C>G c.3687C>G (p.Asp1229Glu) c.3642C>G (p.Asp1214Glu) c.3597C>G (p.Asp1199Glu) c.3666C>G (p.Asp1222Glu) c.3651C>G (p.Asp1217Glu) c.3630C>G (p.Asp1210Glu) c.3624C>G (p.Asp1208Glu) c.3579C>G (p.Asp1193Glu) c.3570C>G (p.Asp1190Glu) c.3546C>G (p.Asp1182Glu) c.3540C>G (p.Asp1180Glu) c.3513C>G (p.Asp1171Glu) c.3507C>G (p.Asp1169Glu) c.3501C>G (p.Asp1167Glu) c.3462C>G (p.Asp1154Glu) c.3450C>G (p.Asp1150Glu) c.3393C>G (p.Asp1131Glu) c.3369C>G (p.Asp1123Glu) c.3363C>G (p.Asp1121Glu) c.3345C>G (p.Asp1115Glu) c.3291C>G (p.Asp1097Glu) c.2598C>G (p.Asp866Glu) c.2511C>G (p.Asp837Glu) n.3787C>G | dbSNP |
17 | g.39727825C>T | CA8534584 | ERBB2 | c.3549C>T (p.Asp1183=) c.3459C>T (p.Asp1153=) c.2721C>T (p.Asp907=) c.3504C>T (p.Asp1168=) c.*3339C>T (n.*3339C>T) c.*128C>T (n.*128C>T) n.3873C>T c.3687C>T (p.Asp1229=) c.3642C>T (p.Asp1214=) c.3597C>T (p.Asp1199=) c.3666C>T (p.Asp1222=) c.3651C>T (p.Asp1217=) c.3630C>T (p.Asp1210=) c.3624C>T (p.Asp1208=) c.3579C>T (p.Asp1193=) c.3570C>T (p.Asp1190=) c.3546C>T (p.Asp1182=) c.3540C>T (p.Asp1180=) c.3513C>T (p.Asp1171=) c.3507C>T (p.Asp1169=) c.3501C>T (p.Asp1167=) c.3462C>T (p.Asp1154=) c.3450C>T (p.Asp1150=) c.3393C>T (p.Asp1131=) c.3369C>T (p.Asp1123=) c.3363C>T (p.Asp1121=) c.3345C>T (p.Asp1115=) c.3291C>T (p.Asp1097=) c.2598C>T (p.Asp866=) c.2511C>T (p.Asp837=) n.3787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727826G>A | CA8534585 | ERBB2 | c.3550G>A (p.Val1184Ile) c.3460G>A (p.Val1154Ile) c.2722G>A (p.Val908Ile) c.3505G>A (p.Val1169Ile) c.*3340G>A (n.*3340G>A) c.*129G>A (n.*129G>A) n.3874G>A c.3688G>A (p.Val1230Ile) c.3643G>A (p.Val1215Ile) c.3598G>A (p.Val1200Ile) c.3667G>A (p.Val1223Ile) c.3652G>A (p.Val1218Ile) c.3631G>A (p.Val1211Ile) c.3625G>A (p.Val1209Ile) c.3580G>A (p.Val1194Ile) c.3571G>A (p.Val1191Ile) c.3547G>A (p.Val1183Ile) c.3541G>A (p.Val1181Ile) c.3514G>A (p.Val1172Ile) c.3508G>A (p.Val1170Ile) c.3502G>A (p.Val1168Ile) c.3463G>A (p.Val1155Ile) c.3451G>A (p.Val1151Ile) c.3394G>A (p.Val1132Ile) c.3370G>A (p.Val1124Ile) c.3364G>A (p.Val1122Ile) c.3346G>A (p.Val1116Ile) c.3292G>A (p.Val1098Ile) c.2599G>A (p.Val867Ile) c.2512G>A (p.Val838Ile) n.3788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727826G>C | CA399313508 | ERBB2 | c.3550G>C (p.Val1184Leu) c.3460G>C (p.Val1154Leu) c.2722G>C (p.Val908Leu) c.3505G>C (p.Val1169Leu) c.*3340G>C (n.*3340G>C) c.*129G>C (n.*129G>C) n.3874G>C c.3688G>C (p.Val1230Leu) c.3643G>C (p.Val1215Leu) c.3598G>C (p.Val1200Leu) c.3667G>C (p.Val1223Leu) c.3652G>C (p.Val1218Leu) c.3631G>C (p.Val1211Leu) c.3625G>C (p.Val1209Leu) c.3580G>C (p.Val1194Leu) c.3571G>C (p.Val1191Leu) c.3547G>C (p.Val1183Leu) c.3541G>C (p.Val1181Leu) c.3514G>C (p.Val1172Leu) c.3508G>C (p.Val1170Leu) c.3502G>C (p.Val1168Leu) c.3463G>C (p.Val1155Leu) c.3451G>C (p.Val1151Leu) c.3394G>C (p.Val1132Leu) c.3370G>C (p.Val1124Leu) c.3364G>C (p.Val1122Leu) c.3346G>C (p.Val1116Leu) c.3292G>C (p.Val1098Leu) c.2599G>C (p.Val867Leu) c.2512G>C (p.Val838Leu) n.3788G>C | dbSNP |
17 | g.39727826G= | CA2259229280 | ERBB2 | c.3550G= (p.Val1184=) c.3460G= (p.Val1154=) c.2722G= (p.Val908=) c.3505G= (p.Val1169=) c.*3340G= (n.*3340G=) c.*129G= (n.*129G=) n.3874G= c.3688G= (p.Val1230=) c.3643G= (p.Val1215=) c.3598G= (p.Val1200=) c.3667G= (p.Val1223=) c.3652G= (p.Val1218=) c.3631G= (p.Val1211=) c.3625G= (p.Val1209=) c.3580G= (p.Val1194=) c.3571G= (p.Val1191=) c.3547G= (p.Val1183=) c.3541G= (p.Val1181=) c.3514G= (p.Val1172=) c.3508G= (p.Val1170=) c.3502G= (p.Val1168=) c.3463G= (p.Val1155=) c.3451G= (p.Val1151=) c.3394G= (p.Val1132=) c.3370G= (p.Val1124=) c.3364G= (p.Val1122=) c.3346G= (p.Val1116=) c.3292G= (p.Val1098=) c.2599G= (p.Val867=) c.2512G= (p.Val838=) n.3788G= | |
17 | g.39727826G>T | CA399313510 | ERBB2 | c.3550G>T (p.Val1184Phe) c.3460G>T (p.Val1154Phe) c.2722G>T (p.Val908Phe) c.3505G>T (p.Val1169Phe) c.*3340G>T (n.*3340G>T) c.*129G>T (n.*129G>T) n.3874G>T c.3688G>T (p.Val1230Phe) c.3643G>T (p.Val1215Phe) c.3598G>T (p.Val1200Phe) c.3667G>T (p.Val1223Phe) c.3652G>T (p.Val1218Phe) c.3631G>T (p.Val1211Phe) c.3625G>T (p.Val1209Phe) c.3580G>T (p.Val1194Phe) c.3571G>T (p.Val1191Phe) c.3547G>T (p.Val1183Phe) c.3541G>T (p.Val1181Phe) c.3514G>T (p.Val1172Phe) c.3508G>T (p.Val1170Phe) c.3502G>T (p.Val1168Phe) c.3463G>T (p.Val1155Phe) c.3451G>T (p.Val1151Phe) c.3394G>T (p.Val1132Phe) c.3370G>T (p.Val1124Phe) c.3364G>T (p.Val1122Phe) c.3346G>T (p.Val1116Phe) c.3292G>T (p.Val1098Phe) c.2599G>T (p.Val867Phe) c.2512G>T (p.Val838Phe) n.3788G>T | gnomAD v4 |
17 | g.39727827T>A | CA399313515 | ERBB2 | c.3551T>A (p.Val1184Asp) c.3461T>A (p.Val1154Asp) c.2723T>A (p.Val908Asp) c.3506T>A (p.Val1169Asp) c.*3341T>A (n.*3341T>A) c.*130T>A (n.*130T>A) n.3875T>A c.3689T>A (p.Val1230Asp) c.3644T>A (p.Val1215Asp) c.3599T>A (p.Val1200Asp) c.3668T>A (p.Val1223Asp) c.3653T>A (p.Val1218Asp) c.3632T>A (p.Val1211Asp) c.3626T>A (p.Val1209Asp) c.3581T>A (p.Val1194Asp) c.3572T>A (p.Val1191Asp) c.3548T>A (p.Val1183Asp) c.3542T>A (p.Val1181Asp) c.3515T>A (p.Val1172Asp) c.3509T>A (p.Val1170Asp) c.3503T>A (p.Val1168Asp) c.3464T>A (p.Val1155Asp) c.3452T>A (p.Val1151Asp) c.3395T>A (p.Val1132Asp) c.3371T>A (p.Val1124Asp) c.3365T>A (p.Val1122Asp) c.3347T>A (p.Val1116Asp) c.3293T>A (p.Val1098Asp) c.2600T>A (p.Val867Asp) c.2513T>A (p.Val838Asp) n.3789T>A | dbSNP |
17 | g.39727827T>C | CA399313518 | ERBB2 | c.3551T>C (p.Val1184Ala) c.3461T>C (p.Val1154Ala) c.2723T>C (p.Val908Ala) c.3506T>C (p.Val1169Ala) c.*3341T>C (n.*3341T>C) c.*130T>C (n.*130T>C) n.3875T>C c.3689T>C (p.Val1230Ala) c.3644T>C (p.Val1215Ala) c.3599T>C (p.Val1200Ala) c.3668T>C (p.Val1223Ala) c.3653T>C (p.Val1218Ala) c.3632T>C (p.Val1211Ala) c.3626T>C (p.Val1209Ala) c.3581T>C (p.Val1194Ala) c.3572T>C (p.Val1191Ala) c.3548T>C (p.Val1183Ala) c.3542T>C (p.Val1181Ala) c.3515T>C (p.Val1172Ala) c.3509T>C (p.Val1170Ala) c.3503T>C (p.Val1168Ala) c.3464T>C (p.Val1155Ala) c.3452T>C (p.Val1151Ala) c.3395T>C (p.Val1132Ala) c.3371T>C (p.Val1124Ala) c.3365T>C (p.Val1122Ala) c.3347T>C (p.Val1116Ala) c.3293T>C (p.Val1098Ala) c.2600T>C (p.Val867Ala) c.2513T>C (p.Val838Ala) n.3789T>C | dbSNP |
17 | g.39727827T>G | CA399313521 | ERBB2 | c.3551T>G (p.Val1184Gly) c.3461T>G (p.Val1154Gly) c.2723T>G (p.Val908Gly) c.3506T>G (p.Val1169Gly) c.*3341T>G (n.*3341T>G) c.*130T>G (n.*130T>G) n.3875T>G c.3689T>G (p.Val1230Gly) c.3644T>G (p.Val1215Gly) c.3599T>G (p.Val1200Gly) c.3668T>G (p.Val1223Gly) c.3653T>G (p.Val1218Gly) c.3632T>G (p.Val1211Gly) c.3626T>G (p.Val1209Gly) c.3581T>G (p.Val1194Gly) c.3572T>G (p.Val1191Gly) c.3548T>G (p.Val1183Gly) c.3542T>G (p.Val1181Gly) c.3515T>G (p.Val1172Gly) c.3509T>G (p.Val1170Gly) c.3503T>G (p.Val1168Gly) c.3464T>G (p.Val1155Gly) c.3452T>G (p.Val1151Gly) c.3395T>G (p.Val1132Gly) c.3371T>G (p.Val1124Gly) c.3365T>G (p.Val1122Gly) c.3347T>G (p.Val1116Gly) c.3293T>G (p.Val1098Gly) c.2600T>G (p.Val867Gly) c.2513T>G (p.Val838Gly) n.3789T>G | dbSNP |
17 | g.39727828T>A | CA499890730 | ERBB2 | c.3552T>A (p.Val1184=) c.3462T>A (p.Val1154=) c.2724T>A (p.Val908=) c.3507T>A (p.Val1169=) c.*3342T>A (n.*3342T>A) c.*131T>A (n.*131T>A) n.3876T>A c.3690T>A (p.Val1230=) c.3645T>A (p.Val1215=) c.3600T>A (p.Val1200=) c.3669T>A (p.Val1223=) c.3654T>A (p.Val1218=) c.3633T>A (p.Val1211=) c.3627T>A (p.Val1209=) c.3582T>A (p.Val1194=) c.3573T>A (p.Val1191=) c.3549T>A (p.Val1183=) c.3543T>A (p.Val1181=) c.3516T>A (p.Val1172=) c.3510T>A (p.Val1170=) c.3504T>A (p.Val1168=) c.3465T>A (p.Val1155=) c.3453T>A (p.Val1151=) c.3396T>A (p.Val1132=) c.3372T>A (p.Val1124=) c.3366T>A (p.Val1122=) c.3348T>A (p.Val1116=) c.3294T>A (p.Val1098=) c.2601T>A (p.Val867=) c.2514T>A (p.Val838=) n.3790T>A | dbSNP |
17 | g.39727828T>C | CA499890731 | ERBB2 | c.3552T>C (p.Val1184=) c.3462T>C (p.Val1154=) c.2724T>C (p.Val908=) c.3507T>C (p.Val1169=) c.*3342T>C (n.*3342T>C) c.*131T>C (n.*131T>C) n.3876T>C c.3690T>C (p.Val1230=) c.3645T>C (p.Val1215=) c.3600T>C (p.Val1200=) c.3669T>C (p.Val1223=) c.3654T>C (p.Val1218=) c.3633T>C (p.Val1211=) c.3627T>C (p.Val1209=) c.3582T>C (p.Val1194=) c.3573T>C (p.Val1191=) c.3549T>C (p.Val1183=) c.3543T>C (p.Val1181=) c.3516T>C (p.Val1172=) c.3510T>C (p.Val1170=) c.3504T>C (p.Val1168=) c.3465T>C (p.Val1155=) c.3453T>C (p.Val1151=) c.3396T>C (p.Val1132=) c.3372T>C (p.Val1124=) c.3366T>C (p.Val1122=) c.3348T>C (p.Val1116=) c.3294T>C (p.Val1098=) c.2601T>C (p.Val867=) c.2514T>C (p.Val838=) n.3790T>C | dbSNP |
17 | g.39727828T>G | CA499890729 | ERBB2 | c.3552T>G (p.Val1184=) c.3462T>G (p.Val1154=) c.2724T>G (p.Val908=) c.3507T>G (p.Val1169=) c.*3342T>G (n.*3342T>G) c.*131T>G (n.*131T>G) n.3876T>G c.3690T>G (p.Val1230=) c.3645T>G (p.Val1215=) c.3600T>G (p.Val1200=) c.3669T>G (p.Val1223=) c.3654T>G (p.Val1218=) c.3633T>G (p.Val1211=) c.3627T>G (p.Val1209=) c.3582T>G (p.Val1194=) c.3573T>G (p.Val1191=) c.3549T>G (p.Val1183=) c.3543T>G (p.Val1181=) c.3516T>G (p.Val1172=) c.3510T>G (p.Val1170=) c.3504T>G (p.Val1168=) c.3465T>G (p.Val1155=) c.3453T>G (p.Val1151=) c.3396T>G (p.Val1132=) c.3372T>G (p.Val1124=) c.3366T>G (p.Val1122=) c.3348T>G (p.Val1116=) c.3294T>G (p.Val1098=) c.2601T>G (p.Val867=) c.2514T>G (p.Val838=) n.3790T>G | dbSNP |
17 | g.39727829T>A | CA399313535 | ERBB2 | c.3553T>A (p.Phe1185Ile) c.3463T>A (p.Phe1155Ile) c.2725T>A (p.Phe909Ile) c.3508T>A (p.Phe1170Ile) c.*3343T>A (n.*3343T>A) c.*132T>A (n.*132T>A) n.3877T>A c.3691T>A (p.Phe1231Ile) c.3646T>A (p.Phe1216Ile) c.3601T>A (p.Phe1201Ile) c.3670T>A (p.Phe1224Ile) c.3655T>A (p.Phe1219Ile) c.3634T>A (p.Phe1212Ile) c.3628T>A (p.Phe1210Ile) c.3583T>A (p.Phe1195Ile) c.3574T>A (p.Phe1192Ile) c.3550T>A (p.Phe1184Ile) c.3544T>A (p.Phe1182Ile) c.3517T>A (p.Phe1173Ile) c.3511T>A (p.Phe1171Ile) c.3505T>A (p.Phe1169Ile) c.3466T>A (p.Phe1156Ile) c.3454T>A (p.Phe1152Ile) c.3397T>A (p.Phe1133Ile) c.3373T>A (p.Phe1125Ile) c.3367T>A (p.Phe1123Ile) c.3349T>A (p.Phe1117Ile) c.3295T>A (p.Phe1099Ile) c.2602T>A (p.Phe868Ile) c.2515T>A (p.Phe839Ile) n.3791T>A | dbSNP |
17 | g.39727829T>C | CA399313525 | ERBB2 | c.3553T>C (p.Phe1185Leu) c.3463T>C (p.Phe1155Leu) c.2725T>C (p.Phe909Leu) c.3508T>C (p.Phe1170Leu) c.*3343T>C (n.*3343T>C) c.*132T>C (n.*132T>C) n.3877T>C c.3691T>C (p.Phe1231Leu) c.3646T>C (p.Phe1216Leu) c.3601T>C (p.Phe1201Leu) c.3670T>C (p.Phe1224Leu) c.3655T>C (p.Phe1219Leu) c.3634T>C (p.Phe1212Leu) c.3628T>C (p.Phe1210Leu) c.3583T>C (p.Phe1195Leu) c.3574T>C (p.Phe1192Leu) c.3550T>C (p.Phe1184Leu) c.3544T>C (p.Phe1182Leu) c.3517T>C (p.Phe1173Leu) c.3511T>C (p.Phe1171Leu) c.3505T>C (p.Phe1169Leu) c.3466T>C (p.Phe1156Leu) c.3454T>C (p.Phe1152Leu) c.3397T>C (p.Phe1133Leu) c.3373T>C (p.Phe1125Leu) c.3367T>C (p.Phe1123Leu) c.3349T>C (p.Phe1117Leu) c.3295T>C (p.Phe1099Leu) c.2602T>C (p.Phe868Leu) c.2515T>C (p.Phe839Leu) n.3791T>C | dbSNP |
17 | g.39727829T>G | CA399313527 | ERBB2 | c.3553T>G (p.Phe1185Val) c.3463T>G (p.Phe1155Val) c.2725T>G (p.Phe909Val) c.3508T>G (p.Phe1170Val) c.*3343T>G (n.*3343T>G) c.*132T>G (n.*132T>G) n.3877T>G c.3691T>G (p.Phe1231Val) c.3646T>G (p.Phe1216Val) c.3601T>G (p.Phe1201Val) c.3670T>G (p.Phe1224Val) c.3655T>G (p.Phe1219Val) c.3634T>G (p.Phe1212Val) c.3628T>G (p.Phe1210Val) c.3583T>G (p.Phe1195Val) c.3574T>G (p.Phe1192Val) c.3550T>G (p.Phe1184Val) c.3544T>G (p.Phe1182Val) c.3517T>G (p.Phe1173Val) c.3511T>G (p.Phe1171Val) c.3505T>G (p.Phe1169Val) c.3466T>G (p.Phe1156Val) c.3454T>G (p.Phe1152Val) c.3397T>G (p.Phe1133Val) c.3373T>G (p.Phe1125Val) c.3367T>G (p.Phe1123Val) c.3349T>G (p.Phe1117Val) c.3295T>G (p.Phe1099Val) c.2602T>G (p.Phe868Val) c.2515T>G (p.Phe839Val) n.3791T>G | |
17 | g.39727830T>A | CA399313539 | ERBB2 | c.3554T>A (p.Phe1185Tyr) c.3464T>A (p.Phe1155Tyr) c.2726T>A (p.Phe909Tyr) c.3509T>A (p.Phe1170Tyr) c.*3344T>A (n.*3344T>A) c.*133T>A (n.*133T>A) n.3878T>A c.3692T>A (p.Phe1231Tyr) c.3647T>A (p.Phe1216Tyr) c.3602T>A (p.Phe1201Tyr) c.3671T>A (p.Phe1224Tyr) c.3656T>A (p.Phe1219Tyr) c.3635T>A (p.Phe1212Tyr) c.3629T>A (p.Phe1210Tyr) c.3584T>A (p.Phe1195Tyr) c.3575T>A (p.Phe1192Tyr) c.3551T>A (p.Phe1184Tyr) c.3545T>A (p.Phe1182Tyr) c.3518T>A (p.Phe1173Tyr) c.3512T>A (p.Phe1171Tyr) c.3506T>A (p.Phe1169Tyr) c.3467T>A (p.Phe1156Tyr) c.3455T>A (p.Phe1152Tyr) c.3398T>A (p.Phe1133Tyr) c.3374T>A (p.Phe1125Tyr) c.3368T>A (p.Phe1123Tyr) c.3350T>A (p.Phe1117Tyr) c.3296T>A (p.Phe1099Tyr) c.2603T>A (p.Phe868Tyr) c.2516T>A (p.Phe839Tyr) n.3792T>A | dbSNP |
17 | g.39727830T>C | CA399313544 | ERBB2 | c.3554T>C (p.Phe1185Ser) c.3464T>C (p.Phe1155Ser) c.2726T>C (p.Phe909Ser) c.3509T>C (p.Phe1170Ser) c.*3344T>C (n.*3344T>C) c.*133T>C (n.*133T>C) n.3878T>C c.3692T>C (p.Phe1231Ser) c.3647T>C (p.Phe1216Ser) c.3602T>C (p.Phe1201Ser) c.3671T>C (p.Phe1224Ser) c.3656T>C (p.Phe1219Ser) c.3635T>C (p.Phe1212Ser) c.3629T>C (p.Phe1210Ser) c.3584T>C (p.Phe1195Ser) c.3575T>C (p.Phe1192Ser) c.3551T>C (p.Phe1184Ser) c.3545T>C (p.Phe1182Ser) c.3518T>C (p.Phe1173Ser) c.3512T>C (p.Phe1171Ser) c.3506T>C (p.Phe1169Ser) c.3467T>C (p.Phe1156Ser) c.3455T>C (p.Phe1152Ser) c.3398T>C (p.Phe1133Ser) c.3374T>C (p.Phe1125Ser) c.3368T>C (p.Phe1123Ser) c.3350T>C (p.Phe1117Ser) c.3296T>C (p.Phe1099Ser) c.2603T>C (p.Phe868Ser) c.2516T>C (p.Phe839Ser) n.3792T>C | dbSNP |
17 | g.39727830T>G | CA399313541 | ERBB2 | c.3554T>G (p.Phe1185Cys) c.3464T>G (p.Phe1155Cys) c.2726T>G (p.Phe909Cys) c.3509T>G (p.Phe1170Cys) c.*3344T>G (n.*3344T>G) c.*133T>G (n.*133T>G) n.3878T>G c.3692T>G (p.Phe1231Cys) c.3647T>G (p.Phe1216Cys) c.3602T>G (p.Phe1201Cys) c.3671T>G (p.Phe1224Cys) c.3656T>G (p.Phe1219Cys) c.3635T>G (p.Phe1212Cys) c.3629T>G (p.Phe1210Cys) c.3584T>G (p.Phe1195Cys) c.3575T>G (p.Phe1192Cys) c.3551T>G (p.Phe1184Cys) c.3545T>G (p.Phe1182Cys) c.3518T>G (p.Phe1173Cys) c.3512T>G (p.Phe1171Cys) c.3506T>G (p.Phe1169Cys) c.3467T>G (p.Phe1156Cys) c.3455T>G (p.Phe1152Cys) c.3398T>G (p.Phe1133Cys) c.3374T>G (p.Phe1125Cys) c.3368T>G (p.Phe1123Cys) c.3350T>G (p.Phe1117Cys) c.3296T>G (p.Phe1099Cys) c.2603T>G (p.Phe868Cys) c.2516T>G (p.Phe839Cys) n.3792T>G | dbSNP |
17 | g.39727831T>A | CA399313547 | ERBB2 | c.3555T>A (p.Phe1185Leu) c.3465T>A (p.Phe1155Leu) c.2727T>A (p.Phe909Leu) c.3510T>A (p.Phe1170Leu) c.*3345T>A (n.*3345T>A) c.*134T>A (n.*134T>A) n.3879T>A c.3693T>A (p.Phe1231Leu) c.3648T>A (p.Phe1216Leu) c.3603T>A (p.Phe1201Leu) c.3672T>A (p.Phe1224Leu) c.3657T>A (p.Phe1219Leu) c.3636T>A (p.Phe1212Leu) c.3630T>A (p.Phe1210Leu) c.3585T>A (p.Phe1195Leu) c.3576T>A (p.Phe1192Leu) c.3552T>A (p.Phe1184Leu) c.3546T>A (p.Phe1182Leu) c.3519T>A (p.Phe1173Leu) c.3513T>A (p.Phe1171Leu) c.3507T>A (p.Phe1169Leu) c.3468T>A (p.Phe1156Leu) c.3456T>A (p.Phe1152Leu) c.3399T>A (p.Phe1133Leu) c.3375T>A (p.Phe1125Leu) c.3369T>A (p.Phe1123Leu) c.3351T>A (p.Phe1117Leu) c.3297T>A (p.Phe1099Leu) c.2604T>A (p.Phe868Leu) c.2517T>A (p.Phe839Leu) n.3793T>A | dbSNP |
17 | g.39727831T>C | CA499890732 | ERBB2 | c.3555T>C (p.Phe1185=) c.3465T>C (p.Phe1155=) c.2727T>C (p.Phe909=) c.3510T>C (p.Phe1170=) c.*3345T>C (n.*3345T>C) c.*134T>C (n.*134T>C) n.3879T>C c.3693T>C (p.Phe1231=) c.3648T>C (p.Phe1216=) c.3603T>C (p.Phe1201=) c.3672T>C (p.Phe1224=) c.3657T>C (p.Phe1219=) c.3636T>C (p.Phe1212=) c.3630T>C (p.Phe1210=) c.3585T>C (p.Phe1195=) c.3576T>C (p.Phe1192=) c.3552T>C (p.Phe1184=) c.3546T>C (p.Phe1182=) c.3519T>C (p.Phe1173=) c.3513T>C (p.Phe1171=) c.3507T>C (p.Phe1169=) c.3468T>C (p.Phe1156=) c.3456T>C (p.Phe1152=) c.3399T>C (p.Phe1133=) c.3375T>C (p.Phe1125=) c.3369T>C (p.Phe1123=) c.3351T>C (p.Phe1117=) c.3297T>C (p.Phe1099=) c.2604T>C (p.Phe868=) c.2517T>C (p.Phe839=) n.3793T>C | dbSNP |
17 | g.39727831T>G | CA399313551 | ERBB2 | c.3555T>G (p.Phe1185Leu) c.3465T>G (p.Phe1155Leu) c.2727T>G (p.Phe909Leu) c.3510T>G (p.Phe1170Leu) c.*3345T>G (n.*3345T>G) c.*134T>G (n.*134T>G) n.3879T>G c.3693T>G (p.Phe1231Leu) c.3648T>G (p.Phe1216Leu) c.3603T>G (p.Phe1201Leu) c.3672T>G (p.Phe1224Leu) c.3657T>G (p.Phe1219Leu) c.3636T>G (p.Phe1212Leu) c.3630T>G (p.Phe1210Leu) c.3585T>G (p.Phe1195Leu) c.3576T>G (p.Phe1192Leu) c.3552T>G (p.Phe1184Leu) c.3546T>G (p.Phe1182Leu) c.3519T>G (p.Phe1173Leu) c.3513T>G (p.Phe1171Leu) c.3507T>G (p.Phe1169Leu) c.3468T>G (p.Phe1156Leu) c.3456T>G (p.Phe1152Leu) c.3399T>G (p.Phe1133Leu) c.3375T>G (p.Phe1125Leu) c.3369T>G (p.Phe1123Leu) c.3351T>G (p.Phe1117Leu) c.3297T>G (p.Phe1099Leu) c.2604T>G (p.Phe868Leu) c.2517T>G (p.Phe839Leu) n.3793T>G | dbSNP |
17 | g.39727832G>A | CA399313554 | ERBB2 | c.3556G>A (p.Ala1186Thr) c.3466G>A (p.Ala1156Thr) c.2728G>A (p.Ala910Thr) c.3511G>A (p.Ala1171Thr) c.*3346G>A (n.*3346G>A) c.*135G>A (n.*135G>A) n.3880G>A c.3694G>A (p.Ala1232Thr) c.3649G>A (p.Ala1217Thr) c.3604G>A (p.Ala1202Thr) c.3673G>A (p.Ala1225Thr) c.3658G>A (p.Ala1220Thr) c.3637G>A (p.Ala1213Thr) c.3631G>A (p.Ala1211Thr) c.3586G>A (p.Ala1196Thr) c.3577G>A (p.Ala1193Thr) c.3553G>A (p.Ala1185Thr) c.3547G>A (p.Ala1183Thr) c.3520G>A (p.Ala1174Thr) c.3514G>A (p.Ala1172Thr) c.3508G>A (p.Ala1170Thr) c.3469G>A (p.Ala1157Thr) c.3457G>A (p.Ala1153Thr) c.3400G>A (p.Ala1134Thr) c.3376G>A (p.Ala1126Thr) c.3370G>A (p.Ala1124Thr) c.3352G>A (p.Ala1118Thr) c.3298G>A (p.Ala1100Thr) c.2605G>A (p.Ala869Thr) c.2518G>A (p.Ala840Thr) n.3794G>A | dbSNP |
17 | g.39727832G>C | CA399313556 | ERBB2 | c.3556G>C (p.Ala1186Pro) c.3466G>C (p.Ala1156Pro) c.2728G>C (p.Ala910Pro) c.3511G>C (p.Ala1171Pro) c.*3346G>C (n.*3346G>C) c.*135G>C (n.*135G>C) n.3880G>C c.3694G>C (p.Ala1232Pro) c.3649G>C (p.Ala1217Pro) c.3604G>C (p.Ala1202Pro) c.3673G>C (p.Ala1225Pro) c.3658G>C (p.Ala1220Pro) c.3637G>C (p.Ala1213Pro) c.3631G>C (p.Ala1211Pro) c.3586G>C (p.Ala1196Pro) c.3577G>C (p.Ala1193Pro) c.3553G>C (p.Ala1185Pro) c.3547G>C (p.Ala1183Pro) c.3520G>C (p.Ala1174Pro) c.3514G>C (p.Ala1172Pro) c.3508G>C (p.Ala1170Pro) c.3469G>C (p.Ala1157Pro) c.3457G>C (p.Ala1153Pro) c.3400G>C (p.Ala1134Pro) c.3376G>C (p.Ala1126Pro) c.3370G>C (p.Ala1124Pro) c.3352G>C (p.Ala1118Pro) c.3298G>C (p.Ala1100Pro) c.2605G>C (p.Ala869Pro) c.2518G>C (p.Ala840Pro) n.3794G>C | dbSNP |
17 | g.39727832G= | CA2259229281 | ERBB2 | c.3556G= (p.Ala1186=) c.3466G= (p.Ala1156=) c.2728G= (p.Ala910=) c.3511G= (p.Ala1171=) c.*3346G= (n.*3346G=) c.*135G= (n.*135G=) n.3880G= c.3694G= (p.Ala1232=) c.3649G= (p.Ala1217=) c.3604G= (p.Ala1202=) c.3673G= (p.Ala1225=) c.3658G= (p.Ala1220=) c.3637G= (p.Ala1213=) c.3631G= (p.Ala1211=) c.3586G= (p.Ala1196=) c.3577G= (p.Ala1193=) c.3553G= (p.Ala1185=) c.3547G= (p.Ala1183=) c.3520G= (p.Ala1174=) c.3514G= (p.Ala1172=) c.3508G= (p.Ala1170=) c.3469G= (p.Ala1157=) c.3457G= (p.Ala1153=) c.3400G= (p.Ala1134=) c.3376G= (p.Ala1126=) c.3370G= (p.Ala1124=) c.3352G= (p.Ala1118=) c.3298G= (p.Ala1100=) c.2605G= (p.Ala869=) c.2518G= (p.Ala840=) n.3794G= | |
17 | g.39727832G>T | CA399313558 | ERBB2 | c.3556G>T (p.Ala1186Ser) c.3466G>T (p.Ala1156Ser) c.2728G>T (p.Ala910Ser) c.3511G>T (p.Ala1171Ser) c.*3346G>T (n.*3346G>T) c.*135G>T (n.*135G>T) n.3880G>T c.3694G>T (p.Ala1232Ser) c.3649G>T (p.Ala1217Ser) c.3604G>T (p.Ala1202Ser) c.3673G>T (p.Ala1225Ser) c.3658G>T (p.Ala1220Ser) c.3637G>T (p.Ala1213Ser) c.3631G>T (p.Ala1211Ser) c.3586G>T (p.Ala1196Ser) c.3577G>T (p.Ala1193Ser) c.3553G>T (p.Ala1185Ser) c.3547G>T (p.Ala1183Ser) c.3520G>T (p.Ala1174Ser) c.3514G>T (p.Ala1172Ser) c.3508G>T (p.Ala1170Ser) c.3469G>T (p.Ala1157Ser) c.3457G>T (p.Ala1153Ser) c.3400G>T (p.Ala1134Ser) c.3376G>T (p.Ala1126Ser) c.3370G>T (p.Ala1124Ser) c.3352G>T (p.Ala1118Ser) c.3298G>T (p.Ala1100Ser) c.2605G>T (p.Ala869Ser) c.2518G>T (p.Ala840Ser) n.3794G>T | dbSNP |
17 | g.39727833C>A | CA399313562 | ERBB2 | c.3557C>A (p.Ala1186Asp) c.3467C>A (p.Ala1156Asp) c.2729C>A (p.Ala910Asp) c.3512C>A (p.Ala1171Asp) c.*3347C>A (n.*3347C>A) c.*136C>A (n.*136C>A) n.3881C>A c.3695C>A (p.Ala1232Asp) c.3650C>A (p.Ala1217Asp) c.3605C>A (p.Ala1202Asp) c.3674C>A (p.Ala1225Asp) c.3659C>A (p.Ala1220Asp) c.3638C>A (p.Ala1213Asp) c.3632C>A (p.Ala1211Asp) c.3587C>A (p.Ala1196Asp) c.3578C>A (p.Ala1193Asp) c.3554C>A (p.Ala1185Asp) c.3548C>A (p.Ala1183Asp) c.3521C>A (p.Ala1174Asp) c.3515C>A (p.Ala1172Asp) c.3509C>A (p.Ala1170Asp) c.3470C>A (p.Ala1157Asp) c.3458C>A (p.Ala1153Asp) c.3401C>A (p.Ala1134Asp) c.3377C>A (p.Ala1126Asp) c.3371C>A (p.Ala1124Asp) c.3353C>A (p.Ala1118Asp) c.3299C>A (p.Ala1100Asp) c.2606C>A (p.Ala869Asp) c.2519C>A (p.Ala840Asp) n.3795C>A | |
17 | g.39727833C>G | CA399313564 | ERBB2 | c.3557C>G (p.Ala1186Gly) c.3467C>G (p.Ala1156Gly) c.2729C>G (p.Ala910Gly) c.3512C>G (p.Ala1171Gly) c.*3347C>G (n.*3347C>G) c.*136C>G (n.*136C>G) n.3881C>G c.3695C>G (p.Ala1232Gly) c.3650C>G (p.Ala1217Gly) c.3605C>G (p.Ala1202Gly) c.3674C>G (p.Ala1225Gly) c.3659C>G (p.Ala1220Gly) c.3638C>G (p.Ala1213Gly) c.3632C>G (p.Ala1211Gly) c.3587C>G (p.Ala1196Gly) c.3578C>G (p.Ala1193Gly) c.3554C>G (p.Ala1185Gly) c.3548C>G (p.Ala1183Gly) c.3521C>G (p.Ala1174Gly) c.3515C>G (p.Ala1172Gly) c.3509C>G (p.Ala1170Gly) c.3470C>G (p.Ala1157Gly) c.3458C>G (p.Ala1153Gly) c.3401C>G (p.Ala1134Gly) c.3377C>G (p.Ala1126Gly) c.3371C>G (p.Ala1124Gly) c.3353C>G (p.Ala1118Gly) c.3299C>G (p.Ala1100Gly) c.2606C>G (p.Ala869Gly) c.2519C>G (p.Ala840Gly) n.3795C>G | |
17 | g.39727833C>T | CA399313566 | ERBB2 | c.3557C>T (p.Ala1186Val) c.3467C>T (p.Ala1156Val) c.2729C>T (p.Ala910Val) c.3512C>T (p.Ala1171Val) c.*3347C>T (n.*3347C>T) c.*136C>T (n.*136C>T) n.3881C>T c.3695C>T (p.Ala1232Val) c.3650C>T (p.Ala1217Val) c.3605C>T (p.Ala1202Val) c.3674C>T (p.Ala1225Val) c.3659C>T (p.Ala1220Val) c.3638C>T (p.Ala1213Val) c.3632C>T (p.Ala1211Val) c.3587C>T (p.Ala1196Val) c.3578C>T (p.Ala1193Val) c.3554C>T (p.Ala1185Val) c.3548C>T (p.Ala1183Val) c.3521C>T (p.Ala1174Val) c.3515C>T (p.Ala1172Val) c.3509C>T (p.Ala1170Val) c.3470C>T (p.Ala1157Val) c.3458C>T (p.Ala1153Val) c.3401C>T (p.Ala1134Val) c.3377C>T (p.Ala1126Val) c.3371C>T (p.Ala1124Val) c.3353C>T (p.Ala1118Val) c.3299C>T (p.Ala1100Val) c.2606C>T (p.Ala869Val) c.2519C>T (p.Ala840Val) n.3795C>T | gnomAD v4 |
17 | g.39727834C>A | CA499890733 | ERBB2 | c.3558C>A (p.Ala1186=) c.3468C>A (p.Ala1156=) c.2730C>A (p.Ala910=) c.3513C>A (p.Ala1171=) c.*3348C>A (n.*3348C>A) c.*137C>A (n.*137C>A) n.3882C>A c.3696C>A (p.Ala1232=) c.3651C>A (p.Ala1217=) c.3606C>A (p.Ala1202=) c.3675C>A (p.Ala1225=) c.3660C>A (p.Ala1220=) c.3639C>A (p.Ala1213=) c.3633C>A (p.Ala1211=) c.3588C>A (p.Ala1196=) c.3579C>A (p.Ala1193=) c.3555C>A (p.Ala1185=) c.3549C>A (p.Ala1183=) c.3522C>A (p.Ala1174=) c.3516C>A (p.Ala1172=) c.3510C>A (p.Ala1170=) c.3471C>A (p.Ala1157=) c.3459C>A (p.Ala1153=) c.3402C>A (p.Ala1134=) c.3378C>A (p.Ala1126=) c.3372C>A (p.Ala1124=) c.3354C>A (p.Ala1118=) c.3300C>A (p.Ala1100=) c.2607C>A (p.Ala869=) c.2520C>A (p.Ala840=) n.3796C>A | |
17 | g.39727834C= | CA2259229282 | ERBB2 | c.3558C= (p.Ala1186=) c.3468C= (p.Ala1156=) c.2730C= (p.Ala910=) c.3513C= (p.Ala1171=) c.*3348C= (n.*3348C=) c.*137C= (n.*137C=) n.3882C= c.3696C= (p.Ala1232=) c.3651C= (p.Ala1217=) c.3606C= (p.Ala1202=) c.3675C= (p.Ala1225=) c.3660C= (p.Ala1220=) c.3639C= (p.Ala1213=) c.3633C= (p.Ala1211=) c.3588C= (p.Ala1196=) c.3579C= (p.Ala1193=) c.3555C= (p.Ala1185=) c.3549C= (p.Ala1183=) c.3522C= (p.Ala1174=) c.3516C= (p.Ala1172=) c.3510C= (p.Ala1170=) c.3471C= (p.Ala1157=) c.3459C= (p.Ala1153=) c.3402C= (p.Ala1134=) c.3378C= (p.Ala1126=) c.3372C= (p.Ala1124=) c.3354C= (p.Ala1118=) c.3300C= (p.Ala1100=) c.2607C= (p.Ala869=) c.2520C= (p.Ala840=) n.3796C= | |
17 | g.39727834C>G | CA499890734 | ERBB2 | c.3558C>G (p.Ala1186=) c.3468C>G (p.Ala1156=) c.2730C>G (p.Ala910=) c.3513C>G (p.Ala1171=) c.*3348C>G (n.*3348C>G) c.*137C>G (n.*137C>G) n.3882C>G c.3696C>G (p.Ala1232=) c.3651C>G (p.Ala1217=) c.3606C>G (p.Ala1202=) c.3675C>G (p.Ala1225=) c.3660C>G (p.Ala1220=) c.3639C>G (p.Ala1213=) c.3633C>G (p.Ala1211=) c.3588C>G (p.Ala1196=) c.3579C>G (p.Ala1193=) c.3555C>G (p.Ala1185=) c.3549C>G (p.Ala1183=) c.3522C>G (p.Ala1174=) c.3516C>G (p.Ala1172=) c.3510C>G (p.Ala1170=) c.3471C>G (p.Ala1157=) c.3459C>G (p.Ala1153=) c.3402C>G (p.Ala1134=) c.3378C>G (p.Ala1126=) c.3372C>G (p.Ala1124=) c.3354C>G (p.Ala1118=) c.3300C>G (p.Ala1100=) c.2607C>G (p.Ala869=) c.2520C>G (p.Ala840=) n.3796C>G | |
17 | g.39727834C>T | CA290443958 | ERBB2 | c.3558C>T (p.Ala1186=) c.3468C>T (p.Ala1156=) c.2730C>T (p.Ala910=) c.3513C>T (p.Ala1171=) c.*3348C>T (n.*3348C>T) c.*137C>T (n.*137C>T) n.3882C>T c.3696C>T (p.Ala1232=) c.3651C>T (p.Ala1217=) c.3606C>T (p.Ala1202=) c.3675C>T (p.Ala1225=) c.3660C>T (p.Ala1220=) c.3639C>T (p.Ala1213=) c.3633C>T (p.Ala1211=) c.3588C>T (p.Ala1196=) c.3579C>T (p.Ala1193=) c.3555C>T (p.Ala1185=) c.3549C>T (p.Ala1183=) c.3522C>T (p.Ala1174=) c.3516C>T (p.Ala1172=) c.3510C>T (p.Ala1170=) c.3471C>T (p.Ala1157=) c.3459C>T (p.Ala1153=) c.3402C>T (p.Ala1134=) c.3378C>T (p.Ala1126=) c.3372C>T (p.Ala1124=) c.3354C>T (p.Ala1118=) c.3300C>T (p.Ala1100=) c.2607C>T (p.Ala869=) c.2520C>T (p.Ala840=) n.3796C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727835T>A | CA399313573 | ERBB2 | c.3559T>A (p.Phe1187Ile) c.3469T>A (p.Phe1157Ile) c.2731T>A (p.Phe911Ile) c.3514T>A (p.Phe1172Ile) c.*3349T>A (n.*3349T>A) c.*138T>A (n.*138T>A) n.3883T>A c.3697T>A (p.Phe1233Ile) c.3652T>A (p.Phe1218Ile) c.3607T>A (p.Phe1203Ile) c.3676T>A (p.Phe1226Ile) c.3661T>A (p.Phe1221Ile) c.3640T>A (p.Phe1214Ile) c.3634T>A (p.Phe1212Ile) c.3589T>A (p.Phe1197Ile) c.3580T>A (p.Phe1194Ile) c.3556T>A (p.Phe1186Ile) c.3550T>A (p.Phe1184Ile) c.3523T>A (p.Phe1175Ile) c.3517T>A (p.Phe1173Ile) c.3511T>A (p.Phe1171Ile) c.3472T>A (p.Phe1158Ile) c.3460T>A (p.Phe1154Ile) c.3403T>A (p.Phe1135Ile) c.3379T>A (p.Phe1127Ile) c.3373T>A (p.Phe1125Ile) c.3355T>A (p.Phe1119Ile) c.3301T>A (p.Phe1101Ile) c.2608T>A (p.Phe870Ile) c.2521T>A (p.Phe841Ile) n.3797T>A | dbSNP |
17 | g.39727835T>C | CA399313570 | ERBB2 | c.3559T>C (p.Phe1187Leu) c.3469T>C (p.Phe1157Leu) c.2731T>C (p.Phe911Leu) c.3514T>C (p.Phe1172Leu) c.*3349T>C (n.*3349T>C) c.*138T>C (n.*138T>C) n.3883T>C c.3697T>C (p.Phe1233Leu) c.3652T>C (p.Phe1218Leu) c.3607T>C (p.Phe1203Leu) c.3676T>C (p.Phe1226Leu) c.3661T>C (p.Phe1221Leu) c.3640T>C (p.Phe1214Leu) c.3634T>C (p.Phe1212Leu) c.3589T>C (p.Phe1197Leu) c.3580T>C (p.Phe1194Leu) c.3556T>C (p.Phe1186Leu) c.3550T>C (p.Phe1184Leu) c.3523T>C (p.Phe1175Leu) c.3517T>C (p.Phe1173Leu) c.3511T>C (p.Phe1171Leu) c.3472T>C (p.Phe1158Leu) c.3460T>C (p.Phe1154Leu) c.3403T>C (p.Phe1135Leu) c.3379T>C (p.Phe1127Leu) c.3373T>C (p.Phe1125Leu) c.3355T>C (p.Phe1119Leu) c.3301T>C (p.Phe1101Leu) c.2608T>C (p.Phe870Leu) c.2521T>C (p.Phe841Leu) n.3797T>C | dbSNP |
17 | g.39727835T>G | CA399313572 | ERBB2 | c.3559T>G (p.Phe1187Val) c.3469T>G (p.Phe1157Val) c.2731T>G (p.Phe911Val) c.3514T>G (p.Phe1172Val) c.*3349T>G (n.*3349T>G) c.*138T>G (n.*138T>G) n.3883T>G c.3697T>G (p.Phe1233Val) c.3652T>G (p.Phe1218Val) c.3607T>G (p.Phe1203Val) c.3676T>G (p.Phe1226Val) c.3661T>G (p.Phe1221Val) c.3640T>G (p.Phe1214Val) c.3634T>G (p.Phe1212Val) c.3589T>G (p.Phe1197Val) c.3580T>G (p.Phe1194Val) c.3556T>G (p.Phe1186Val) c.3550T>G (p.Phe1184Val) c.3523T>G (p.Phe1175Val) c.3517T>G (p.Phe1173Val) c.3511T>G (p.Phe1171Val) c.3472T>G (p.Phe1158Val) c.3460T>G (p.Phe1154Val) c.3403T>G (p.Phe1135Val) c.3379T>G (p.Phe1127Val) c.3373T>G (p.Phe1125Val) c.3355T>G (p.Phe1119Val) c.3301T>G (p.Phe1101Val) c.2608T>G (p.Phe870Val) c.2521T>G (p.Phe841Val) n.3797T>G | dbSNP |
17 | g.39727836T>A | CA399313577 | ERBB2 | c.3560T>A (p.Phe1187Tyr) c.3470T>A (p.Phe1157Tyr) c.2732T>A (p.Phe911Tyr) c.3515T>A (p.Phe1172Tyr) c.*3350T>A (n.*3350T>A) c.*139T>A (n.*139T>A) n.3884T>A c.3698T>A (p.Phe1233Tyr) c.3653T>A (p.Phe1218Tyr) c.3608T>A (p.Phe1203Tyr) c.3677T>A (p.Phe1226Tyr) c.3662T>A (p.Phe1221Tyr) c.3641T>A (p.Phe1214Tyr) c.3635T>A (p.Phe1212Tyr) c.3590T>A (p.Phe1197Tyr) c.3581T>A (p.Phe1194Tyr) c.3557T>A (p.Phe1186Tyr) c.3551T>A (p.Phe1184Tyr) c.3524T>A (p.Phe1175Tyr) c.3518T>A (p.Phe1173Tyr) c.3512T>A (p.Phe1171Tyr) c.3473T>A (p.Phe1158Tyr) c.3461T>A (p.Phe1154Tyr) c.3404T>A (p.Phe1135Tyr) c.3380T>A (p.Phe1127Tyr) c.3374T>A (p.Phe1125Tyr) c.3356T>A (p.Phe1119Tyr) c.3302T>A (p.Phe1101Tyr) c.2609T>A (p.Phe870Tyr) c.2522T>A (p.Phe841Tyr) n.3798T>A | |
17 | g.39727836T>C | CA399313578 | ERBB2 | c.3560T>C (p.Phe1187Ser) c.3470T>C (p.Phe1157Ser) c.2732T>C (p.Phe911Ser) c.3515T>C (p.Phe1172Ser) c.*3350T>C (n.*3350T>C) c.*139T>C (n.*139T>C) n.3884T>C c.3698T>C (p.Phe1233Ser) c.3653T>C (p.Phe1218Ser) c.3608T>C (p.Phe1203Ser) c.3677T>C (p.Phe1226Ser) c.3662T>C (p.Phe1221Ser) c.3641T>C (p.Phe1214Ser) c.3635T>C (p.Phe1212Ser) c.3590T>C (p.Phe1197Ser) c.3581T>C (p.Phe1194Ser) c.3557T>C (p.Phe1186Ser) c.3551T>C (p.Phe1184Ser) c.3524T>C (p.Phe1175Ser) c.3518T>C (p.Phe1173Ser) c.3512T>C (p.Phe1171Ser) c.3473T>C (p.Phe1158Ser) c.3461T>C (p.Phe1154Ser) c.3404T>C (p.Phe1135Ser) c.3380T>C (p.Phe1127Ser) c.3374T>C (p.Phe1125Ser) c.3356T>C (p.Phe1119Ser) c.3302T>C (p.Phe1101Ser) c.2609T>C (p.Phe870Ser) c.2522T>C (p.Phe841Ser) n.3798T>C | |
17 | g.39727836T>G | CA399313582 | ERBB2 | c.3560T>G (p.Phe1187Cys) c.3470T>G (p.Phe1157Cys) c.2732T>G (p.Phe911Cys) c.3515T>G (p.Phe1172Cys) c.*3350T>G (n.*3350T>G) c.*139T>G (n.*139T>G) n.3884T>G c.3698T>G (p.Phe1233Cys) c.3653T>G (p.Phe1218Cys) c.3608T>G (p.Phe1203Cys) c.3677T>G (p.Phe1226Cys) c.3662T>G (p.Phe1221Cys) c.3641T>G (p.Phe1214Cys) c.3635T>G (p.Phe1212Cys) c.3590T>G (p.Phe1197Cys) c.3581T>G (p.Phe1194Cys) c.3557T>G (p.Phe1186Cys) c.3551T>G (p.Phe1184Cys) c.3524T>G (p.Phe1175Cys) c.3518T>G (p.Phe1173Cys) c.3512T>G (p.Phe1171Cys) c.3473T>G (p.Phe1158Cys) c.3461T>G (p.Phe1154Cys) c.3404T>G (p.Phe1135Cys) c.3380T>G (p.Phe1127Cys) c.3374T>G (p.Phe1125Cys) c.3356T>G (p.Phe1119Cys) c.3302T>G (p.Phe1101Cys) c.2609T>G (p.Phe870Cys) c.2522T>G (p.Phe841Cys) n.3798T>G | |
17 | g.39727837T>A | CA399313585 | ERBB2 | c.3561T>A (p.Phe1187Leu) c.3471T>A (p.Phe1157Leu) c.2733T>A (p.Phe911Leu) c.3516T>A (p.Phe1172Leu) c.*3351T>A (n.*3351T>A) c.*140T>A (n.*140T>A) n.3885T>A c.3699T>A (p.Phe1233Leu) c.3654T>A (p.Phe1218Leu) c.3609T>A (p.Phe1203Leu) c.3678T>A (p.Phe1226Leu) c.3663T>A (p.Phe1221Leu) c.3642T>A (p.Phe1214Leu) c.3636T>A (p.Phe1212Leu) c.3591T>A (p.Phe1197Leu) c.3582T>A (p.Phe1194Leu) c.3558T>A (p.Phe1186Leu) c.3552T>A (p.Phe1184Leu) c.3525T>A (p.Phe1175Leu) c.3519T>A (p.Phe1173Leu) c.3513T>A (p.Phe1171Leu) c.3474T>A (p.Phe1158Leu) c.3462T>A (p.Phe1154Leu) c.3405T>A (p.Phe1135Leu) c.3381T>A (p.Phe1127Leu) c.3375T>A (p.Phe1125Leu) c.3357T>A (p.Phe1119Leu) c.3303T>A (p.Phe1101Leu) c.2610T>A (p.Phe870Leu) c.2523T>A (p.Phe841Leu) n.3799T>A | |
17 | g.39727837T>C | CA499890736 | ERBB2 | c.3561T>C (p.Phe1187=) c.3471T>C (p.Phe1157=) c.2733T>C (p.Phe911=) c.3516T>C (p.Phe1172=) c.*3351T>C (n.*3351T>C) c.*140T>C (n.*140T>C) n.3885T>C c.3699T>C (p.Phe1233=) c.3654T>C (p.Phe1218=) c.3609T>C (p.Phe1203=) c.3678T>C (p.Phe1226=) c.3663T>C (p.Phe1221=) c.3642T>C (p.Phe1214=) c.3636T>C (p.Phe1212=) c.3591T>C (p.Phe1197=) c.3582T>C (p.Phe1194=) c.3558T>C (p.Phe1186=) c.3552T>C (p.Phe1184=) c.3525T>C (p.Phe1175=) c.3519T>C (p.Phe1173=) c.3513T>C (p.Phe1171=) c.3474T>C (p.Phe1158=) c.3462T>C (p.Phe1154=) c.3405T>C (p.Phe1135=) c.3381T>C (p.Phe1127=) c.3375T>C (p.Phe1125=) c.3357T>C (p.Phe1119=) c.3303T>C (p.Phe1101=) c.2610T>C (p.Phe870=) c.2523T>C (p.Phe841=) n.3799T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727837T>G | CA399313587 | ERBB2 | c.3561T>G (p.Phe1187Leu) c.3471T>G (p.Phe1157Leu) c.2733T>G (p.Phe911Leu) c.3516T>G (p.Phe1172Leu) c.*3351T>G (n.*3351T>G) c.*140T>G (n.*140T>G) n.3885T>G c.3699T>G (p.Phe1233Leu) c.3654T>G (p.Phe1218Leu) c.3609T>G (p.Phe1203Leu) c.3678T>G (p.Phe1226Leu) c.3663T>G (p.Phe1221Leu) c.3642T>G (p.Phe1214Leu) c.3636T>G (p.Phe1212Leu) c.3591T>G (p.Phe1197Leu) c.3582T>G (p.Phe1194Leu) c.3558T>G (p.Phe1186Leu) c.3552T>G (p.Phe1184Leu) c.3525T>G (p.Phe1175Leu) c.3519T>G (p.Phe1173Leu) c.3513T>G (p.Phe1171Leu) c.3474T>G (p.Phe1158Leu) c.3462T>G (p.Phe1154Leu) c.3405T>G (p.Phe1135Leu) c.3381T>G (p.Phe1127Leu) c.3375T>G (p.Phe1125Leu) c.3357T>G (p.Phe1119Leu) c.3303T>G (p.Phe1101Leu) c.2610T>G (p.Phe870Leu) c.2523T>G (p.Phe841Leu) n.3799T>G | dbSNP |
17 | g.39727837T= | CA2259229284 | ERBB2 | c.3561T= (p.Phe1187=) c.3471T= (p.Phe1157=) c.2733T= (p.Phe911=) c.3516T= (p.Phe1172=) c.*3351T= (n.*3351T=) c.*140T= (n.*140T=) n.3885T= c.3699T= (p.Phe1233=) c.3654T= (p.Phe1218=) c.3609T= (p.Phe1203=) c.3678T= (p.Phe1226=) c.3663T= (p.Phe1221=) c.3642T= (p.Phe1214=) c.3636T= (p.Phe1212=) c.3591T= (p.Phe1197=) c.3582T= (p.Phe1194=) c.3558T= (p.Phe1186=) c.3552T= (p.Phe1184=) c.3525T= (p.Phe1175=) c.3519T= (p.Phe1173=) c.3513T= (p.Phe1171=) c.3474T= (p.Phe1158=) c.3462T= (p.Phe1154=) c.3405T= (p.Phe1135=) c.3381T= (p.Phe1127=) c.3375T= (p.Phe1125=) c.3357T= (p.Phe1119=) c.3303T= (p.Phe1101=) c.2610T= (p.Phe870=) c.2523T= (p.Phe841=) n.3799T= | |
17 | g.39727837_39727838delinsTG | CA2259229283 | ERBB2 | c.3561_3562delinsTG (p.Phe1187=) c.3471_3472delinsTG (p.Phe1157=) c.2733_2734delinsTG (p.Phe911=) c.3516_3517delinsTG (p.Phe1172=) c.*3351_*3352delinsTG (n.*3351_*3352delinsTG) c.*140_*141delinsTG (n.*140_*141delinsTG) n.3885_3886delinsTG c.3699_3700delinsTG (p.Phe1233=) c.3654_3655delinsTG (p.Phe1218=) c.3609_3610delinsTG (p.Phe1203=) c.3678_3679delinsTG (p.Phe1226=) c.3663_3664delinsTG (p.Phe1221=) c.3642_3643delinsTG (p.Phe1214=) c.3636_3637delinsTG (p.Phe1212=) c.3591_3592delinsTG (p.Phe1197=) c.3582_3583delinsTG (p.Phe1194=) c.3558_3559delinsTG (p.Phe1186=) c.3552_3553delinsTG (p.Phe1184=) c.3525_3526delinsTG (p.Phe1175=) c.3519_3520delinsTG (p.Phe1173=) c.3513_3514delinsTG (p.Phe1171=) c.3474_3475delinsTG (p.Phe1158=) c.3462_3463delinsTG (p.Phe1154=) c.3405_3406delinsTG (p.Phe1135=) c.3381_3382delinsTG (p.Phe1127=) c.3375_3376delinsTG (p.Phe1125=) c.3357_3358delinsTG (p.Phe1119=) c.3303_3304delinsTG (p.Phe1101=) c.2610_2611delinsTG (p.Phe870=) c.2523_2524delinsTG (p.Phe841=) n.3799_3800delinsTG | |
17 | g.39727838G>A | CA399313603 | ERBB2 | c.3562G>A (p.Gly1188Arg) c.3472G>A (p.Gly1158Arg) c.2734G>A (p.Gly912Arg) c.3517G>A (p.Gly1173Arg) c.*3352G>A (n.*3352G>A) c.*141G>A (n.*141G>A) n.3886G>A c.3700G>A (p.Gly1234Arg) c.3655G>A (p.Gly1219Arg) c.3610G>A (p.Gly1204Arg) c.3679G>A (p.Gly1227Arg) c.3664G>A (p.Gly1222Arg) c.3643G>A (p.Gly1215Arg) c.3637G>A (p.Gly1213Arg) c.3592G>A (p.Gly1198Arg) c.3583G>A (p.Gly1195Arg) c.3559G>A (p.Gly1187Arg) c.3553G>A (p.Gly1185Arg) c.3526G>A (p.Gly1176Arg) c.3520G>A (p.Gly1174Arg) c.3514G>A (p.Gly1172Arg) c.3475G>A (p.Gly1159Arg) c.3463G>A (p.Gly1155Arg) c.3406G>A (p.Gly1136Arg) c.3382G>A (p.Gly1128Arg) c.3376G>A (p.Gly1126Arg) c.3358G>A (p.Gly1120Arg) c.3304G>A (p.Gly1102Arg) c.2611G>A (p.Gly871Arg) c.2524G>A (p.Gly842Arg) n.3800G>A | dbSNP |
17 | g.39727838G>C | CA399313592 | ERBB2 | c.3562G>C (p.Gly1188Arg) c.3472G>C (p.Gly1158Arg) c.2734G>C (p.Gly912Arg) c.3517G>C (p.Gly1173Arg) c.*3352G>C (n.*3352G>C) c.*141G>C (n.*141G>C) n.3886G>C c.3700G>C (p.Gly1234Arg) c.3655G>C (p.Gly1219Arg) c.3610G>C (p.Gly1204Arg) c.3679G>C (p.Gly1227Arg) c.3664G>C (p.Gly1222Arg) c.3643G>C (p.Gly1215Arg) c.3637G>C (p.Gly1213Arg) c.3592G>C (p.Gly1198Arg) c.3583G>C (p.Gly1195Arg) c.3559G>C (p.Gly1187Arg) c.3553G>C (p.Gly1185Arg) c.3526G>C (p.Gly1176Arg) c.3520G>C (p.Gly1174Arg) c.3514G>C (p.Gly1172Arg) c.3475G>C (p.Gly1159Arg) c.3463G>C (p.Gly1155Arg) c.3406G>C (p.Gly1136Arg) c.3382G>C (p.Gly1128Arg) c.3376G>C (p.Gly1126Arg) c.3358G>C (p.Gly1120Arg) c.3304G>C (p.Gly1102Arg) c.2611G>C (p.Gly871Arg) c.2524G>C (p.Gly842Arg) n.3800G>C | gnomAD v4 |
17 | g.39727838G>T | CA399313600 | ERBB2 | c.3562G>T (p.Gly1188Trp) c.3472G>T (p.Gly1158Trp) c.2734G>T (p.Gly912Trp) c.3517G>T (p.Gly1173Trp) c.*3352G>T (n.*3352G>T) c.*141G>T (n.*141G>T) n.3886G>T c.3700G>T (p.Gly1234Trp) c.3655G>T (p.Gly1219Trp) c.3610G>T (p.Gly1204Trp) c.3679G>T (p.Gly1227Trp) c.3664G>T (p.Gly1222Trp) c.3643G>T (p.Gly1215Trp) c.3637G>T (p.Gly1213Trp) c.3592G>T (p.Gly1198Trp) c.3583G>T (p.Gly1195Trp) c.3559G>T (p.Gly1187Trp) c.3553G>T (p.Gly1185Trp) c.3526G>T (p.Gly1176Trp) c.3520G>T (p.Gly1174Trp) c.3514G>T (p.Gly1172Trp) c.3475G>T (p.Gly1159Trp) c.3463G>T (p.Gly1155Trp) c.3406G>T (p.Gly1136Trp) c.3382G>T (p.Gly1128Trp) c.3376G>T (p.Gly1126Trp) c.3358G>T (p.Gly1120Trp) c.3304G>T (p.Gly1102Trp) c.2611G>T (p.Gly871Trp) c.2524G>T (p.Gly842Trp) n.3800G>T | dbSNP |
17 | g.39727842del | CA290443968 | ERBB2 | c.3566del (p.Gly1189ValfsTer9) c.3476del (p.Gly1159ValfsTer9) c.2738del (p.Gly913ValfsTer9) c.3521del (p.Gly1174ValfsTer9) c.*3356del (n.*3356del) c.*145del (n.*145del) n.3890del c.3704del (p.Gly1235ValfsTer9) c.3659del (p.Gly1220ValfsTer9) c.3614del (p.Gly1205ValfsTer9) c.3683del (p.Gly1228ValfsTer9) c.3668del (p.Gly1223ValfsTer9) c.3647del (p.Gly1216ValfsTer9) c.3641del (p.Gly1214ValfsTer9) c.3596del (p.Gly1199ValfsTer9) c.3587del (p.Gly1196ValfsTer9) c.3563del (p.Gly1188ValfsTer9) c.3557del (p.Gly1186ValfsTer9) c.3530del (p.Gly1177ValfsTer9) c.3524del (p.Gly1175ValfsTer9) c.3518del (p.Gly1173ValfsTer9) c.3479del (p.Gly1160ValfsTer9) c.3467del (p.Gly1156ValfsTer9) c.3410del (p.Gly1137ValfsTer9) c.3386del (p.Gly1129ValfsTer9) c.3380del (p.Gly1127ValfsTer9) c.3362del (p.Gly1121ValfsTer9) c.3308del (p.Gly1103ValfsTer9) c.2615del (p.Gly872ValfsTer9) c.2528del (p.Gly843ValfsTer9) n.3804del | dbSNP |
17 | g.39727839G>A | CA399313606 | ERBB2 | c.3563G>A (p.Gly1188Glu) c.3473G>A (p.Gly1158Glu) c.2735G>A (p.Gly912Glu) c.3518G>A (p.Gly1173Glu) c.*3353G>A (n.*3353G>A) c.*142G>A (n.*142G>A) n.3887G>A c.3701G>A (p.Gly1234Glu) c.3656G>A (p.Gly1219Glu) c.3611G>A (p.Gly1204Glu) c.3680G>A (p.Gly1227Glu) c.3665G>A (p.Gly1222Glu) c.3644G>A (p.Gly1215Glu) c.3638G>A (p.Gly1213Glu) c.3593G>A (p.Gly1198Glu) c.3584G>A (p.Gly1195Glu) c.3560G>A (p.Gly1187Glu) c.3554G>A (p.Gly1185Glu) c.3527G>A (p.Gly1176Glu) c.3521G>A (p.Gly1174Glu) c.3515G>A (p.Gly1172Glu) c.3476G>A (p.Gly1159Glu) c.3464G>A (p.Gly1155Glu) c.3407G>A (p.Gly1136Glu) c.3383G>A (p.Gly1128Glu) c.3377G>A (p.Gly1126Glu) c.3359G>A (p.Gly1120Glu) c.3305G>A (p.Gly1102Glu) c.2612G>A (p.Gly871Glu) c.2525G>A (p.Gly842Glu) n.3801G>A | dbSNP |
17 | g.39727839G>C | CA399313613 | ERBB2 | c.3563G>C (p.Gly1188Ala) c.3473G>C (p.Gly1158Ala) c.2735G>C (p.Gly912Ala) c.3518G>C (p.Gly1173Ala) c.*3353G>C (n.*3353G>C) c.*142G>C (n.*142G>C) n.3887G>C c.3701G>C (p.Gly1234Ala) c.3656G>C (p.Gly1219Ala) c.3611G>C (p.Gly1204Ala) c.3680G>C (p.Gly1227Ala) c.3665G>C (p.Gly1222Ala) c.3644G>C (p.Gly1215Ala) c.3638G>C (p.Gly1213Ala) c.3593G>C (p.Gly1198Ala) c.3584G>C (p.Gly1195Ala) c.3560G>C (p.Gly1187Ala) c.3554G>C (p.Gly1185Ala) c.3527G>C (p.Gly1176Ala) c.3521G>C (p.Gly1174Ala) c.3515G>C (p.Gly1172Ala) c.3476G>C (p.Gly1159Ala) c.3464G>C (p.Gly1155Ala) c.3407G>C (p.Gly1136Ala) c.3383G>C (p.Gly1128Ala) c.3377G>C (p.Gly1126Ala) c.3359G>C (p.Gly1120Ala) c.3305G>C (p.Gly1102Ala) c.2612G>C (p.Gly871Ala) c.2525G>C (p.Gly842Ala) n.3801G>C | dbSNP |
17 | g.39727839G= | CA2259229285 | ERBB2 | c.3563G= (p.Gly1188=) c.3473G= (p.Gly1158=) c.2735G= (p.Gly912=) c.3518G= (p.Gly1173=) c.*3353G= (n.*3353G=) c.*142G= (n.*142G=) n.3887G= c.3701G= (p.Gly1234=) c.3656G= (p.Gly1219=) c.3611G= (p.Gly1204=) c.3680G= (p.Gly1227=) c.3665G= (p.Gly1222=) c.3644G= (p.Gly1215=) c.3638G= (p.Gly1213=) c.3593G= (p.Gly1198=) c.3584G= (p.Gly1195=) c.3560G= (p.Gly1187=) c.3554G= (p.Gly1185=) c.3527G= (p.Gly1176=) c.3521G= (p.Gly1174=) c.3515G= (p.Gly1172=) c.3476G= (p.Gly1159=) c.3464G= (p.Gly1155=) c.3407G= (p.Gly1136=) c.3383G= (p.Gly1128=) c.3377G= (p.Gly1126=) c.3359G= (p.Gly1120=) c.3305G= (p.Gly1102=) c.2612G= (p.Gly871=) c.2525G= (p.Gly842=) n.3801G= | |
17 | g.39727839G>T | CA399313615 | ERBB2 | c.3563G>T (p.Gly1188Val) c.3473G>T (p.Gly1158Val) c.2735G>T (p.Gly912Val) c.3518G>T (p.Gly1173Val) c.*3353G>T (n.*3353G>T) c.*142G>T (n.*142G>T) n.3887G>T c.3701G>T (p.Gly1234Val) c.3656G>T (p.Gly1219Val) c.3611G>T (p.Gly1204Val) c.3680G>T (p.Gly1227Val) c.3665G>T (p.Gly1222Val) c.3644G>T (p.Gly1215Val) c.3638G>T (p.Gly1213Val) c.3593G>T (p.Gly1198Val) c.3584G>T (p.Gly1195Val) c.3560G>T (p.Gly1187Val) c.3554G>T (p.Gly1185Val) c.3527G>T (p.Gly1176Val) c.3521G>T (p.Gly1174Val) c.3515G>T (p.Gly1172Val) c.3476G>T (p.Gly1159Val) c.3464G>T (p.Gly1155Val) c.3407G>T (p.Gly1136Val) c.3383G>T (p.Gly1128Val) c.3377G>T (p.Gly1126Val) c.3359G>T (p.Gly1120Val) c.3305G>T (p.Gly1102Val) c.2612G>T (p.Gly871Val) c.2525G>T (p.Gly842Val) n.3801G>T | dbSNP gnomAD v2 |
17 | g.39727840G>A | CA499890740 | ERBB2 | c.3564G>A (p.Gly1188=) c.3474G>A (p.Gly1158=) c.2736G>A (p.Gly912=) c.3519G>A (p.Gly1173=) c.*3354G>A (n.*3354G>A) c.*143G>A (n.*143G>A) n.3888G>A c.3702G>A (p.Gly1234=) c.3657G>A (p.Gly1219=) c.3612G>A (p.Gly1204=) c.3681G>A (p.Gly1227=) c.3666G>A (p.Gly1222=) c.3645G>A (p.Gly1215=) c.3639G>A (p.Gly1213=) c.3594G>A (p.Gly1198=) c.3585G>A (p.Gly1195=) c.3561G>A (p.Gly1187=) c.3555G>A (p.Gly1185=) c.3528G>A (p.Gly1176=) c.3522G>A (p.Gly1174=) c.3516G>A (p.Gly1172=) c.3477G>A (p.Gly1159=) c.3465G>A (p.Gly1155=) c.3408G>A (p.Gly1136=) c.3384G>A (p.Gly1128=) c.3378G>A (p.Gly1126=) c.3360G>A (p.Gly1120=) c.3306G>A (p.Gly1102=) c.2613G>A (p.Gly871=) c.2526G>A (p.Gly842=) n.3802G>A | dbSNP |
17 | g.39727840G>C | CA499890737 | ERBB2 | c.3564G>C (p.Gly1188=) c.3474G>C (p.Gly1158=) c.2736G>C (p.Gly912=) c.3519G>C (p.Gly1173=) c.*3354G>C (n.*3354G>C) c.*143G>C (n.*143G>C) n.3888G>C c.3702G>C (p.Gly1234=) c.3657G>C (p.Gly1219=) c.3612G>C (p.Gly1204=) c.3681G>C (p.Gly1227=) c.3666G>C (p.Gly1222=) c.3645G>C (p.Gly1215=) c.3639G>C (p.Gly1213=) c.3594G>C (p.Gly1198=) c.3585G>C (p.Gly1195=) c.3561G>C (p.Gly1187=) c.3555G>C (p.Gly1185=) c.3528G>C (p.Gly1176=) c.3522G>C (p.Gly1174=) c.3516G>C (p.Gly1172=) c.3477G>C (p.Gly1159=) c.3465G>C (p.Gly1155=) c.3408G>C (p.Gly1136=) c.3384G>C (p.Gly1128=) c.3378G>C (p.Gly1126=) c.3360G>C (p.Gly1120=) c.3306G>C (p.Gly1102=) c.2613G>C (p.Gly871=) c.2526G>C (p.Gly842=) n.3802G>C | dbSNP gnomAD v4 |
17 | g.39727840G>T | CA499890738 | ERBB2 | c.3564G>T (p.Gly1188=) c.3474G>T (p.Gly1158=) c.2736G>T (p.Gly912=) c.3519G>T (p.Gly1173=) c.*3354G>T (n.*3354G>T) c.*143G>T (n.*143G>T) n.3888G>T c.3702G>T (p.Gly1234=) c.3657G>T (p.Gly1219=) c.3612G>T (p.Gly1204=) c.3681G>T (p.Gly1227=) c.3666G>T (p.Gly1222=) c.3645G>T (p.Gly1215=) c.3639G>T (p.Gly1213=) c.3594G>T (p.Gly1198=) c.3585G>T (p.Gly1195=) c.3561G>T (p.Gly1187=) c.3555G>T (p.Gly1185=) c.3528G>T (p.Gly1176=) c.3522G>T (p.Gly1174=) c.3516G>T (p.Gly1172=) c.3477G>T (p.Gly1159=) c.3465G>T (p.Gly1155=) c.3408G>T (p.Gly1136=) c.3384G>T (p.Gly1128=) c.3378G>T (p.Gly1126=) c.3360G>T (p.Gly1120=) c.3306G>T (p.Gly1102=) c.2613G>T (p.Gly871=) c.2526G>T (p.Gly842=) n.3802G>T | dbSNP |
17 | g.39727841G>A | CA290443973 | ERBB2 | c.3565G>A (p.Gly1189Ser) c.3475G>A (p.Gly1159Ser) c.2737G>A (p.Gly913Ser) c.3520G>A (p.Gly1174Ser) c.*3355G>A (n.*3355G>A) c.*144G>A (n.*144G>A) n.3889G>A c.3703G>A (p.Gly1235Ser) c.3658G>A (p.Gly1220Ser) c.3613G>A (p.Gly1205Ser) c.3682G>A (p.Gly1228Ser) c.3667G>A (p.Gly1223Ser) c.3646G>A (p.Gly1216Ser) c.3640G>A (p.Gly1214Ser) c.3595G>A (p.Gly1199Ser) c.3586G>A (p.Gly1196Ser) c.3562G>A (p.Gly1188Ser) c.3556G>A (p.Gly1186Ser) c.3529G>A (p.Gly1177Ser) c.3523G>A (p.Gly1175Ser) c.3517G>A (p.Gly1173Ser) c.3478G>A (p.Gly1160Ser) c.3466G>A (p.Gly1156Ser) c.3409G>A (p.Gly1137Ser) c.3385G>A (p.Gly1129Ser) c.3379G>A (p.Gly1127Ser) c.3361G>A (p.Gly1121Ser) c.3307G>A (p.Gly1103Ser) c.2614G>A (p.Gly872Ser) c.2527G>A (p.Gly843Ser) n.3803G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727841G>C | CA399313620 | ERBB2 | c.3565G>C (p.Gly1189Arg) c.3475G>C (p.Gly1159Arg) c.2737G>C (p.Gly913Arg) c.3520G>C (p.Gly1174Arg) c.*3355G>C (n.*3355G>C) c.*144G>C (n.*144G>C) n.3889G>C c.3703G>C (p.Gly1235Arg) c.3658G>C (p.Gly1220Arg) c.3613G>C (p.Gly1205Arg) c.3682G>C (p.Gly1228Arg) c.3667G>C (p.Gly1223Arg) c.3646G>C (p.Gly1216Arg) c.3640G>C (p.Gly1214Arg) c.3595G>C (p.Gly1199Arg) c.3586G>C (p.Gly1196Arg) c.3562G>C (p.Gly1188Arg) c.3556G>C (p.Gly1186Arg) c.3529G>C (p.Gly1177Arg) c.3523G>C (p.Gly1175Arg) c.3517G>C (p.Gly1173Arg) c.3478G>C (p.Gly1160Arg) c.3466G>C (p.Gly1156Arg) c.3409G>C (p.Gly1137Arg) c.3385G>C (p.Gly1129Arg) c.3379G>C (p.Gly1127Arg) c.3361G>C (p.Gly1121Arg) c.3307G>C (p.Gly1103Arg) c.2614G>C (p.Gly872Arg) c.2527G>C (p.Gly843Arg) n.3803G>C | dbSNP |
17 | g.39727841G= | CA2259229286 | ERBB2 | c.3565G= (p.Gly1189=) c.3475G= (p.Gly1159=) c.2737G= (p.Gly913=) c.3520G= (p.Gly1174=) c.*3355G= (n.*3355G=) c.*144G= (n.*144G=) n.3889G= c.3703G= (p.Gly1235=) c.3658G= (p.Gly1220=) c.3613G= (p.Gly1205=) c.3682G= (p.Gly1228=) c.3667G= (p.Gly1223=) c.3646G= (p.Gly1216=) c.3640G= (p.Gly1214=) c.3595G= (p.Gly1199=) c.3586G= (p.Gly1196=) c.3562G= (p.Gly1188=) c.3556G= (p.Gly1186=) c.3529G= (p.Gly1177=) c.3523G= (p.Gly1175=) c.3517G= (p.Gly1173=) c.3478G= (p.Gly1160=) c.3466G= (p.Gly1156=) c.3409G= (p.Gly1137=) c.3385G= (p.Gly1129=) c.3379G= (p.Gly1127=) c.3361G= (p.Gly1121=) c.3307G= (p.Gly1103=) c.2614G= (p.Gly872=) c.2527G= (p.Gly843=) n.3803G= | |
17 | g.39727841G>T | CA399313623 | ERBB2 | c.3565G>T (p.Gly1189Cys) c.3475G>T (p.Gly1159Cys) c.2737G>T (p.Gly913Cys) c.3520G>T (p.Gly1174Cys) c.*3355G>T (n.*3355G>T) c.*144G>T (n.*144G>T) n.3889G>T c.3703G>T (p.Gly1235Cys) c.3658G>T (p.Gly1220Cys) c.3613G>T (p.Gly1205Cys) c.3682G>T (p.Gly1228Cys) c.3667G>T (p.Gly1223Cys) c.3646G>T (p.Gly1216Cys) c.3640G>T (p.Gly1214Cys) c.3595G>T (p.Gly1199Cys) c.3586G>T (p.Gly1196Cys) c.3562G>T (p.Gly1188Cys) c.3556G>T (p.Gly1186Cys) c.3529G>T (p.Gly1177Cys) c.3523G>T (p.Gly1175Cys) c.3517G>T (p.Gly1173Cys) c.3478G>T (p.Gly1160Cys) c.3466G>T (p.Gly1156Cys) c.3409G>T (p.Gly1137Cys) c.3385G>T (p.Gly1129Cys) c.3379G>T (p.Gly1127Cys) c.3361G>T (p.Gly1121Cys) c.3307G>T (p.Gly1103Cys) c.2614G>T (p.Gly872Cys) c.2527G>T (p.Gly843Cys) n.3803G>T | dbSNP gnomAD v4 |
17 | g.39727842G>A | CA399313627 | ERBB2 | c.3566G>A (p.Gly1189Asp) c.3476G>A (p.Gly1159Asp) c.2738G>A (p.Gly913Asp) c.3521G>A (p.Gly1174Asp) c.*3356G>A (n.*3356G>A) c.*145G>A (n.*145G>A) n.3890G>A c.3704G>A (p.Gly1235Asp) c.3659G>A (p.Gly1220Asp) c.3614G>A (p.Gly1205Asp) c.3683G>A (p.Gly1228Asp) c.3668G>A (p.Gly1223Asp) c.3647G>A (p.Gly1216Asp) c.3641G>A (p.Gly1214Asp) c.3596G>A (p.Gly1199Asp) c.3587G>A (p.Gly1196Asp) c.3563G>A (p.Gly1188Asp) c.3557G>A (p.Gly1186Asp) c.3530G>A (p.Gly1177Asp) c.3524G>A (p.Gly1175Asp) c.3518G>A (p.Gly1173Asp) c.3479G>A (p.Gly1160Asp) c.3467G>A (p.Gly1156Asp) c.3410G>A (p.Gly1137Asp) c.3386G>A (p.Gly1129Asp) c.3380G>A (p.Gly1127Asp) c.3362G>A (p.Gly1121Asp) c.3308G>A (p.Gly1103Asp) c.2615G>A (p.Gly872Asp) c.2528G>A (p.Gly843Asp) n.3804G>A | dbSNP gnomAD v4 |
17 | g.39727842G>C | CA399313630 | ERBB2 | c.3566G>C (p.Gly1189Ala) c.3476G>C (p.Gly1159Ala) c.2738G>C (p.Gly913Ala) c.3521G>C (p.Gly1174Ala) c.*3356G>C (n.*3356G>C) c.*145G>C (n.*145G>C) n.3890G>C c.3704G>C (p.Gly1235Ala) c.3659G>C (p.Gly1220Ala) c.3614G>C (p.Gly1205Ala) c.3683G>C (p.Gly1228Ala) c.3668G>C (p.Gly1223Ala) c.3647G>C (p.Gly1216Ala) c.3641G>C (p.Gly1214Ala) c.3596G>C (p.Gly1199Ala) c.3587G>C (p.Gly1196Ala) c.3563G>C (p.Gly1188Ala) c.3557G>C (p.Gly1186Ala) c.3530G>C (p.Gly1177Ala) c.3524G>C (p.Gly1175Ala) c.3518G>C (p.Gly1173Ala) c.3479G>C (p.Gly1160Ala) c.3467G>C (p.Gly1156Ala) c.3410G>C (p.Gly1137Ala) c.3386G>C (p.Gly1129Ala) c.3380G>C (p.Gly1127Ala) c.3362G>C (p.Gly1121Ala) c.3308G>C (p.Gly1103Ala) c.2615G>C (p.Gly872Ala) c.2528G>C (p.Gly843Ala) n.3804G>C | dbSNP |
17 | g.39727842G= | CA2259229287 | ERBB2 | c.3566G= (p.Gly1189=) c.3476G= (p.Gly1159=) c.2738G= (p.Gly913=) c.3521G= (p.Gly1174=) c.*3356G= (n.*3356G=) c.*145G= (n.*145G=) n.3890G= c.3704G= (p.Gly1235=) c.3659G= (p.Gly1220=) c.3614G= (p.Gly1205=) c.3683G= (p.Gly1228=) c.3668G= (p.Gly1223=) c.3647G= (p.Gly1216=) c.3641G= (p.Gly1214=) c.3596G= (p.Gly1199=) c.3587G= (p.Gly1196=) c.3563G= (p.Gly1188=) c.3557G= (p.Gly1186=) c.3530G= (p.Gly1177=) c.3524G= (p.Gly1175=) c.3518G= (p.Gly1173=) c.3479G= (p.Gly1160=) c.3467G= (p.Gly1156=) c.3410G= (p.Gly1137=) c.3386G= (p.Gly1129=) c.3380G= (p.Gly1127=) c.3362G= (p.Gly1121=) c.3308G= (p.Gly1103=) c.2615G= (p.Gly872=) c.2528G= (p.Gly843=) n.3804G= | |
17 | g.39727842G>T | CA399313632 | ERBB2 | c.3566G>T (p.Gly1189Val) c.3476G>T (p.Gly1159Val) c.2738G>T (p.Gly913Val) c.3521G>T (p.Gly1174Val) c.*3356G>T (n.*3356G>T) c.*145G>T (n.*145G>T) n.3890G>T c.3704G>T (p.Gly1235Val) c.3659G>T (p.Gly1220Val) c.3614G>T (p.Gly1205Val) c.3683G>T (p.Gly1228Val) c.3668G>T (p.Gly1223Val) c.3647G>T (p.Gly1216Val) c.3641G>T (p.Gly1214Val) c.3596G>T (p.Gly1199Val) c.3587G>T (p.Gly1196Val) c.3563G>T (p.Gly1188Val) c.3557G>T (p.Gly1186Val) c.3530G>T (p.Gly1177Val) c.3524G>T (p.Gly1175Val) c.3518G>T (p.Gly1173Val) c.3479G>T (p.Gly1160Val) c.3467G>T (p.Gly1156Val) c.3410G>T (p.Gly1137Val) c.3386G>T (p.Gly1129Val) c.3380G>T (p.Gly1127Val) c.3362G>T (p.Gly1121Val) c.3308G>T (p.Gly1103Val) c.2615G>T (p.Gly872Val) c.2528G>T (p.Gly843Val) n.3804G>T | dbSNP |
17 | g.39727843T>A | CA499890742 | ERBB2 | c.3567T>A (p.Gly1189=) c.3477T>A (p.Gly1159=) c.2739T>A (p.Gly913=) c.3522T>A (p.Gly1174=) c.*3357T>A (n.*3357T>A) c.*146T>A (n.*146T>A) n.3891T>A c.3705T>A (p.Gly1235=) c.3660T>A (p.Gly1220=) c.3615T>A (p.Gly1205=) c.3684T>A (p.Gly1228=) c.3669T>A (p.Gly1223=) c.3648T>A (p.Gly1216=) c.3642T>A (p.Gly1214=) c.3597T>A (p.Gly1199=) c.3588T>A (p.Gly1196=) c.3564T>A (p.Gly1188=) c.3558T>A (p.Gly1186=) c.3531T>A (p.Gly1177=) c.3525T>A (p.Gly1175=) c.3519T>A (p.Gly1173=) c.3480T>A (p.Gly1160=) c.3468T>A (p.Gly1156=) c.3411T>A (p.Gly1137=) c.3387T>A (p.Gly1129=) c.3381T>A (p.Gly1127=) c.3363T>A (p.Gly1121=) c.3309T>A (p.Gly1103=) c.2616T>A (p.Gly872=) c.2529T>A (p.Gly843=) n.3805T>A | dbSNP |
17 | g.39727843T>C | CA499890743 | ERBB2 | c.3567T>C (p.Gly1189=) c.3477T>C (p.Gly1159=) c.2739T>C (p.Gly913=) c.3522T>C (p.Gly1174=) c.*3357T>C (n.*3357T>C) c.*146T>C (n.*146T>C) n.3891T>C c.3705T>C (p.Gly1235=) c.3660T>C (p.Gly1220=) c.3615T>C (p.Gly1205=) c.3684T>C (p.Gly1228=) c.3669T>C (p.Gly1223=) c.3648T>C (p.Gly1216=) c.3642T>C (p.Gly1214=) c.3597T>C (p.Gly1199=) c.3588T>C (p.Gly1196=) c.3564T>C (p.Gly1188=) c.3558T>C (p.Gly1186=) c.3531T>C (p.Gly1177=) c.3525T>C (p.Gly1175=) c.3519T>C (p.Gly1173=) c.3480T>C (p.Gly1160=) c.3468T>C (p.Gly1156=) c.3411T>C (p.Gly1137=) c.3387T>C (p.Gly1129=) c.3381T>C (p.Gly1127=) c.3363T>C (p.Gly1121=) c.3309T>C (p.Gly1103=) c.2616T>C (p.Gly872=) c.2529T>C (p.Gly843=) n.3805T>C | |
17 | g.39727843T>G | CA499890744 | ERBB2 | c.3567T>G (p.Gly1189=) c.3477T>G (p.Gly1159=) c.2739T>G (p.Gly913=) c.3522T>G (p.Gly1174=) c.*3357T>G (n.*3357T>G) c.*146T>G (n.*146T>G) n.3891T>G c.3705T>G (p.Gly1235=) c.3660T>G (p.Gly1220=) c.3615T>G (p.Gly1205=) c.3684T>G (p.Gly1228=) c.3669T>G (p.Gly1223=) c.3648T>G (p.Gly1216=) c.3642T>G (p.Gly1214=) c.3597T>G (p.Gly1199=) c.3588T>G (p.Gly1196=) c.3564T>G (p.Gly1188=) c.3558T>G (p.Gly1186=) c.3531T>G (p.Gly1177=) c.3525T>G (p.Gly1175=) c.3519T>G (p.Gly1173=) c.3480T>G (p.Gly1160=) c.3468T>G (p.Gly1156=) c.3411T>G (p.Gly1137=) c.3387T>G (p.Gly1129=) c.3381T>G (p.Gly1127=) c.3363T>G (p.Gly1121=) c.3309T>G (p.Gly1103=) c.2616T>G (p.Gly872=) c.2529T>G (p.Gly843=) n.3805T>G | dbSNP |
17 | g.39727844G>A | CA290443974 | ERBB2 | c.3568G>A (p.Ala1190Thr) c.3478G>A (p.Ala1160Thr) c.2740G>A (p.Ala914Thr) c.3523G>A (p.Ala1175Thr) c.*3358G>A (n.*3358G>A) c.*147G>A (n.*147G>A) n.3892G>A c.3706G>A (p.Ala1236Thr) c.3661G>A (p.Ala1221Thr) c.3616G>A (p.Ala1206Thr) c.3685G>A (p.Ala1229Thr) c.3670G>A (p.Ala1224Thr) c.3649G>A (p.Ala1217Thr) c.3643G>A (p.Ala1215Thr) c.3598G>A (p.Ala1200Thr) c.3589G>A (p.Ala1197Thr) c.3565G>A (p.Ala1189Thr) c.3559G>A (p.Ala1187Thr) c.3532G>A (p.Ala1178Thr) c.3526G>A (p.Ala1176Thr) c.3520G>A (p.Ala1174Thr) c.3481G>A (p.Ala1161Thr) c.3469G>A (p.Ala1157Thr) c.3412G>A (p.Ala1138Thr) c.3388G>A (p.Ala1130Thr) c.3382G>A (p.Ala1128Thr) c.3364G>A (p.Ala1122Thr) c.3310G>A (p.Ala1104Thr) c.2617G>A (p.Ala873Thr) c.2530G>A (p.Ala844Thr) n.3806G>A | dbSNP |
17 | g.39727844G>C | CA399313638 | ERBB2 | c.3568G>C (p.Ala1190Pro) c.3478G>C (p.Ala1160Pro) c.2740G>C (p.Ala914Pro) c.3523G>C (p.Ala1175Pro) c.*3358G>C (n.*3358G>C) c.*147G>C (n.*147G>C) n.3892G>C c.3706G>C (p.Ala1236Pro) c.3661G>C (p.Ala1221Pro) c.3616G>C (p.Ala1206Pro) c.3685G>C (p.Ala1229Pro) c.3670G>C (p.Ala1224Pro) c.3649G>C (p.Ala1217Pro) c.3643G>C (p.Ala1215Pro) c.3598G>C (p.Ala1200Pro) c.3589G>C (p.Ala1197Pro) c.3565G>C (p.Ala1189Pro) c.3559G>C (p.Ala1187Pro) c.3532G>C (p.Ala1178Pro) c.3526G>C (p.Ala1176Pro) c.3520G>C (p.Ala1174Pro) c.3481G>C (p.Ala1161Pro) c.3469G>C (p.Ala1157Pro) c.3412G>C (p.Ala1138Pro) c.3388G>C (p.Ala1130Pro) c.3382G>C (p.Ala1128Pro) c.3364G>C (p.Ala1122Pro) c.3310G>C (p.Ala1104Pro) c.2617G>C (p.Ala873Pro) c.2530G>C (p.Ala844Pro) n.3806G>C | dbSNP |
17 | g.39727844G= | CA2259229288 | ERBB2 | c.3568G= (p.Ala1190=) c.3478G= (p.Ala1160=) c.2740G= (p.Ala914=) c.3523G= (p.Ala1175=) c.*3358G= (n.*3358G=) c.*147G= (n.*147G=) n.3892G= c.3706G= (p.Ala1236=) c.3661G= (p.Ala1221=) c.3616G= (p.Ala1206=) c.3685G= (p.Ala1229=) c.3670G= (p.Ala1224=) c.3649G= (p.Ala1217=) c.3643G= (p.Ala1215=) c.3598G= (p.Ala1200=) c.3589G= (p.Ala1197=) c.3565G= (p.Ala1189=) c.3559G= (p.Ala1187=) c.3532G= (p.Ala1178=) c.3526G= (p.Ala1176=) c.3520G= (p.Ala1174=) c.3481G= (p.Ala1161=) c.3469G= (p.Ala1157=) c.3412G= (p.Ala1138=) c.3388G= (p.Ala1130=) c.3382G= (p.Ala1128=) c.3364G= (p.Ala1122=) c.3310G= (p.Ala1104=) c.2617G= (p.Ala873=) c.2530G= (p.Ala844=) n.3806G= | |
17 | g.39727844G>T | CA399313642 | ERBB2 | c.3568G>T (p.Ala1190Ser) c.3478G>T (p.Ala1160Ser) c.2740G>T (p.Ala914Ser) c.3523G>T (p.Ala1175Ser) c.*3358G>T (n.*3358G>T) c.*147G>T (n.*147G>T) n.3892G>T c.3706G>T (p.Ala1236Ser) c.3661G>T (p.Ala1221Ser) c.3616G>T (p.Ala1206Ser) c.3685G>T (p.Ala1229Ser) c.3670G>T (p.Ala1224Ser) c.3649G>T (p.Ala1217Ser) c.3643G>T (p.Ala1215Ser) c.3598G>T (p.Ala1200Ser) c.3589G>T (p.Ala1197Ser) c.3565G>T (p.Ala1189Ser) c.3559G>T (p.Ala1187Ser) c.3532G>T (p.Ala1178Ser) c.3526G>T (p.Ala1176Ser) c.3520G>T (p.Ala1174Ser) c.3481G>T (p.Ala1161Ser) c.3469G>T (p.Ala1157Ser) c.3412G>T (p.Ala1138Ser) c.3388G>T (p.Ala1130Ser) c.3382G>T (p.Ala1128Ser) c.3364G>T (p.Ala1122Ser) c.3310G>T (p.Ala1104Ser) c.2617G>T (p.Ala873Ser) c.2530G>T (p.Ala844Ser) n.3806G>T | |
17 | g.39727845C>A | CA399313646 | ERBB2 | c.3569C>A (p.Ala1190Asp) c.3479C>A (p.Ala1160Asp) c.2741C>A (p.Ala914Asp) c.3524C>A (p.Ala1175Asp) c.*3359C>A (n.*3359C>A) c.*148C>A (n.*148C>A) n.3893C>A c.3707C>A (p.Ala1236Asp) c.3662C>A (p.Ala1221Asp) c.3617C>A (p.Ala1206Asp) c.3686C>A (p.Ala1229Asp) c.3671C>A (p.Ala1224Asp) c.3650C>A (p.Ala1217Asp) c.3644C>A (p.Ala1215Asp) c.3599C>A (p.Ala1200Asp) c.3590C>A (p.Ala1197Asp) c.3566C>A (p.Ala1189Asp) c.3560C>A (p.Ala1187Asp) c.3533C>A (p.Ala1178Asp) c.3527C>A (p.Ala1176Asp) c.3521C>A (p.Ala1174Asp) c.3482C>A (p.Ala1161Asp) c.3470C>A (p.Ala1157Asp) c.3413C>A (p.Ala1138Asp) c.3389C>A (p.Ala1130Asp) c.3383C>A (p.Ala1128Asp) c.3365C>A (p.Ala1122Asp) c.3311C>A (p.Ala1104Asp) c.2618C>A (p.Ala873Asp) c.2531C>A (p.Ala844Asp) n.3807C>A | dbSNP |
17 | g.39727845C>G | CA399313651 | ERBB2 | c.3569C>G (p.Ala1190Gly) c.3479C>G (p.Ala1160Gly) c.2741C>G (p.Ala914Gly) c.3524C>G (p.Ala1175Gly) c.*3359C>G (n.*3359C>G) c.*148C>G (n.*148C>G) n.3893C>G c.3707C>G (p.Ala1236Gly) c.3662C>G (p.Ala1221Gly) c.3617C>G (p.Ala1206Gly) c.3686C>G (p.Ala1229Gly) c.3671C>G (p.Ala1224Gly) c.3650C>G (p.Ala1217Gly) c.3644C>G (p.Ala1215Gly) c.3599C>G (p.Ala1200Gly) c.3590C>G (p.Ala1197Gly) c.3566C>G (p.Ala1189Gly) c.3560C>G (p.Ala1187Gly) c.3533C>G (p.Ala1178Gly) c.3527C>G (p.Ala1176Gly) c.3521C>G (p.Ala1174Gly) c.3482C>G (p.Ala1161Gly) c.3470C>G (p.Ala1157Gly) c.3413C>G (p.Ala1138Gly) c.3389C>G (p.Ala1130Gly) c.3383C>G (p.Ala1128Gly) c.3365C>G (p.Ala1122Gly) c.3311C>G (p.Ala1104Gly) c.2618C>G (p.Ala873Gly) c.2531C>G (p.Ala844Gly) n.3807C>G | dbSNP |
17 | g.39727845C>T | CA399313649 | ERBB2 | c.3569C>T (p.Ala1190Val) c.3479C>T (p.Ala1160Val) c.2741C>T (p.Ala914Val) c.3524C>T (p.Ala1175Val) c.*3359C>T (n.*3359C>T) c.*148C>T (n.*148C>T) n.3893C>T c.3707C>T (p.Ala1236Val) c.3662C>T (p.Ala1221Val) c.3617C>T (p.Ala1206Val) c.3686C>T (p.Ala1229Val) c.3671C>T (p.Ala1224Val) c.3650C>T (p.Ala1217Val) c.3644C>T (p.Ala1215Val) c.3599C>T (p.Ala1200Val) c.3590C>T (p.Ala1197Val) c.3566C>T (p.Ala1189Val) c.3560C>T (p.Ala1187Val) c.3533C>T (p.Ala1178Val) c.3527C>T (p.Ala1176Val) c.3521C>T (p.Ala1174Val) c.3482C>T (p.Ala1161Val) c.3470C>T (p.Ala1157Val) c.3413C>T (p.Ala1138Val) c.3389C>T (p.Ala1130Val) c.3383C>T (p.Ala1128Val) c.3365C>T (p.Ala1122Val) c.3311C>T (p.Ala1104Val) c.2618C>T (p.Ala873Val) c.2531C>T (p.Ala844Val) n.3807C>T | dbSNP gnomAD v4 |
17 | g.39727846C>A | CA499890748 | ERBB2 | c.3570C>A (p.Ala1190=) c.3480C>A (p.Ala1160=) c.2742C>A (p.Ala914=) c.3525C>A (p.Ala1175=) c.*3360C>A (n.*3360C>A) c.*149C>A (n.*149C>A) n.3894C>A c.3708C>A (p.Ala1236=) c.3663C>A (p.Ala1221=) c.3618C>A (p.Ala1206=) c.3687C>A (p.Ala1229=) c.3672C>A (p.Ala1224=) c.3651C>A (p.Ala1217=) c.3645C>A (p.Ala1215=) c.3600C>A (p.Ala1200=) c.3591C>A (p.Ala1197=) c.3567C>A (p.Ala1189=) c.3561C>A (p.Ala1187=) c.3534C>A (p.Ala1178=) c.3528C>A (p.Ala1176=) c.3522C>A (p.Ala1174=) c.3483C>A (p.Ala1161=) c.3471C>A (p.Ala1157=) c.3414C>A (p.Ala1138=) c.3390C>A (p.Ala1130=) c.3384C>A (p.Ala1128=) c.3366C>A (p.Ala1122=) c.3312C>A (p.Ala1104=) c.2619C>A (p.Ala873=) c.2532C>A (p.Ala844=) n.3808C>A | dbSNP |
17 | g.39727846C= | CA2259229289 | ERBB2 | c.3570C= (p.Ala1190=) c.3480C= (p.Ala1160=) c.2742C= (p.Ala914=) c.3525C= (p.Ala1175=) c.*3360C= (n.*3360C=) c.*149C= (n.*149C=) n.3894C= c.3708C= (p.Ala1236=) c.3663C= (p.Ala1221=) c.3618C= (p.Ala1206=) c.3687C= (p.Ala1229=) c.3672C= (p.Ala1224=) c.3651C= (p.Ala1217=) c.3645C= (p.Ala1215=) c.3600C= (p.Ala1200=) c.3591C= (p.Ala1197=) c.3567C= (p.Ala1189=) c.3561C= (p.Ala1187=) c.3534C= (p.Ala1178=) c.3528C= (p.Ala1176=) c.3522C= (p.Ala1174=) c.3483C= (p.Ala1161=) c.3471C= (p.Ala1157=) c.3414C= (p.Ala1138=) c.3390C= (p.Ala1130=) c.3384C= (p.Ala1128=) c.3366C= (p.Ala1122=) c.3312C= (p.Ala1104=) c.2619C= (p.Ala873=) c.2532C= (p.Ala844=) n.3808C= | |
17 | g.39727846C>G | CA499890749 | ERBB2 | c.3570C>G (p.Ala1190=) c.3480C>G (p.Ala1160=) c.2742C>G (p.Ala914=) c.3525C>G (p.Ala1175=) c.*3360C>G (n.*3360C>G) c.*149C>G (n.*149C>G) n.3894C>G c.3708C>G (p.Ala1236=) c.3663C>G (p.Ala1221=) c.3618C>G (p.Ala1206=) c.3687C>G (p.Ala1229=) c.3672C>G (p.Ala1224=) c.3651C>G (p.Ala1217=) c.3645C>G (p.Ala1215=) c.3600C>G (p.Ala1200=) c.3591C>G (p.Ala1197=) c.3567C>G (p.Ala1189=) c.3561C>G (p.Ala1187=) c.3534C>G (p.Ala1178=) c.3528C>G (p.Ala1176=) c.3522C>G (p.Ala1174=) c.3483C>G (p.Ala1161=) c.3471C>G (p.Ala1157=) c.3414C>G (p.Ala1138=) c.3390C>G (p.Ala1130=) c.3384C>G (p.Ala1128=) c.3366C>G (p.Ala1122=) c.3312C>G (p.Ala1104=) c.2619C>G (p.Ala873=) c.2532C>G (p.Ala844=) n.3808C>G | dbSNP |
17 | g.39727846C>T | CA8534586 | ERBB2 | c.3570C>T (p.Ala1190=) c.3480C>T (p.Ala1160=) c.2742C>T (p.Ala914=) c.3525C>T (p.Ala1175=) c.*3360C>T (n.*3360C>T) c.*149C>T (n.*149C>T) n.3894C>T c.3708C>T (p.Ala1236=) c.3663C>T (p.Ala1221=) c.3618C>T (p.Ala1206=) c.3687C>T (p.Ala1229=) c.3672C>T (p.Ala1224=) c.3651C>T (p.Ala1217=) c.3645C>T (p.Ala1215=) c.3600C>T (p.Ala1200=) c.3591C>T (p.Ala1197=) c.3567C>T (p.Ala1189=) c.3561C>T (p.Ala1187=) c.3534C>T (p.Ala1178=) c.3528C>T (p.Ala1176=) c.3522C>T (p.Ala1174=) c.3483C>T (p.Ala1161=) c.3471C>T (p.Ala1157=) c.3414C>T (p.Ala1138=) c.3390C>T (p.Ala1130=) c.3384C>T (p.Ala1128=) c.3366C>T (p.Ala1122=) c.3312C>T (p.Ala1104=) c.2619C>T (p.Ala873=) c.2532C>T (p.Ala844=) n.3808C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727847G>A | CA399313658 | ERBB2 | c.3571G>A (p.Val1191Met) c.3481G>A (p.Val1161Met) c.2743G>A (p.Val915Met) c.3526G>A (p.Val1176Met) c.*3361G>A (n.*3361G>A) c.*150G>A (n.*150G>A) n.3895G>A c.3709G>A (p.Val1237Met) c.3664G>A (p.Val1222Met) c.3619G>A (p.Val1207Met) c.3688G>A (p.Val1230Met) c.3673G>A (p.Val1225Met) c.3652G>A (p.Val1218Met) c.3646G>A (p.Val1216Met) c.3601G>A (p.Val1201Met) c.3592G>A (p.Val1198Met) c.3568G>A (p.Val1190Met) c.3562G>A (p.Val1188Met) c.3535G>A (p.Val1179Met) c.3529G>A (p.Val1177Met) c.3523G>A (p.Val1175Met) c.3484G>A (p.Val1162Met) c.3472G>A (p.Val1158Met) c.3415G>A (p.Val1139Met) c.3391G>A (p.Val1131Met) c.3385G>A (p.Val1129Met) c.3367G>A (p.Val1123Met) c.3313G>A (p.Val1105Met) c.2620G>A (p.Val874Met) c.2533G>A (p.Val845Met) n.3809G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.39727847G>C | CA399313660 | ERBB2 | c.3571G>C (p.Val1191Leu) c.3481G>C (p.Val1161Leu) c.2743G>C (p.Val915Leu) c.3526G>C (p.Val1176Leu) c.*3361G>C (n.*3361G>C) c.*150G>C (n.*150G>C) n.3895G>C c.3709G>C (p.Val1237Leu) c.3664G>C (p.Val1222Leu) c.3619G>C (p.Val1207Leu) c.3688G>C (p.Val1230Leu) c.3673G>C (p.Val1225Leu) c.3652G>C (p.Val1218Leu) c.3646G>C (p.Val1216Leu) c.3601G>C (p.Val1201Leu) c.3592G>C (p.Val1198Leu) c.3568G>C (p.Val1190Leu) c.3562G>C (p.Val1188Leu) c.3535G>C (p.Val1179Leu) c.3529G>C (p.Val1177Leu) c.3523G>C (p.Val1175Leu) c.3484G>C (p.Val1162Leu) c.3472G>C (p.Val1158Leu) c.3415G>C (p.Val1139Leu) c.3391G>C (p.Val1131Leu) c.3385G>C (p.Val1129Leu) c.3367G>C (p.Val1123Leu) c.3313G>C (p.Val1105Leu) c.2620G>C (p.Val874Leu) c.2533G>C (p.Val845Leu) n.3809G>C | dbSNP |
17 | g.39727847G= | CA2259229290 | ERBB2 | c.3571G= (p.Val1191=) c.3481G= (p.Val1161=) c.2743G= (p.Val915=) c.3526G= (p.Val1176=) c.*3361G= (n.*3361G=) c.*150G= (n.*150G=) n.3895G= c.3709G= (p.Val1237=) c.3664G= (p.Val1222=) c.3619G= (p.Val1207=) c.3688G= (p.Val1230=) c.3673G= (p.Val1225=) c.3652G= (p.Val1218=) c.3646G= (p.Val1216=) c.3601G= (p.Val1201=) c.3592G= (p.Val1198=) c.3568G= (p.Val1190=) c.3562G= (p.Val1188=) c.3535G= (p.Val1179=) c.3529G= (p.Val1177=) c.3523G= (p.Val1175=) c.3484G= (p.Val1162=) c.3472G= (p.Val1158=) c.3415G= (p.Val1139=) c.3391G= (p.Val1131=) c.3385G= (p.Val1129=) c.3367G= (p.Val1123=) c.3313G= (p.Val1105=) c.2620G= (p.Val874=) c.2533G= (p.Val845=) n.3809G= | |
17 | g.39727847G>T | CA399313662 | ERBB2 | c.3571G>T (p.Val1191Leu) c.3481G>T (p.Val1161Leu) c.2743G>T (p.Val915Leu) c.3526G>T (p.Val1176Leu) c.*3361G>T (n.*3361G>T) c.*150G>T (n.*150G>T) n.3895G>T c.3709G>T (p.Val1237Leu) c.3664G>T (p.Val1222Leu) c.3619G>T (p.Val1207Leu) c.3688G>T (p.Val1230Leu) c.3673G>T (p.Val1225Leu) c.3652G>T (p.Val1218Leu) c.3646G>T (p.Val1216Leu) c.3601G>T (p.Val1201Leu) c.3592G>T (p.Val1198Leu) c.3568G>T (p.Val1190Leu) c.3562G>T (p.Val1188Leu) c.3535G>T (p.Val1179Leu) c.3529G>T (p.Val1177Leu) c.3523G>T (p.Val1175Leu) c.3484G>T (p.Val1162Leu) c.3472G>T (p.Val1158Leu) c.3415G>T (p.Val1139Leu) c.3391G>T (p.Val1131Leu) c.3385G>T (p.Val1129Leu) c.3367G>T (p.Val1123Leu) c.3313G>T (p.Val1105Leu) c.2620G>T (p.Val874Leu) c.2533G>T (p.Val845Leu) n.3809G>T | |
17 | g.39727848T>A | CA399313665 | ERBB2 | c.3572T>A (p.Val1191Glu) c.3482T>A (p.Val1161Glu) c.2744T>A (p.Val915Glu) c.3527T>A (p.Val1176Glu) c.*3362T>A (n.*3362T>A) c.*151T>A (n.*151T>A) n.3896T>A c.3710T>A (p.Val1237Glu) c.3665T>A (p.Val1222Glu) c.3620T>A (p.Val1207Glu) c.3689T>A (p.Val1230Glu) c.3674T>A (p.Val1225Glu) c.3653T>A (p.Val1218Glu) c.3647T>A (p.Val1216Glu) c.3602T>A (p.Val1201Glu) c.3593T>A (p.Val1198Glu) c.3569T>A (p.Val1190Glu) c.3563T>A (p.Val1188Glu) c.3536T>A (p.Val1179Glu) c.3530T>A (p.Val1177Glu) c.3524T>A (p.Val1175Glu) c.3485T>A (p.Val1162Glu) c.3473T>A (p.Val1158Glu) c.3416T>A (p.Val1139Glu) c.3392T>A (p.Val1131Glu) c.3386T>A (p.Val1129Glu) c.3368T>A (p.Val1123Glu) c.3314T>A (p.Val1105Glu) c.2621T>A (p.Val874Glu) c.2534T>A (p.Val845Glu) n.3810T>A | dbSNP |
17 | g.39727848T>C | CA399313667 | ERBB2 | c.3572T>C (p.Val1191Ala) c.3482T>C (p.Val1161Ala) c.2744T>C (p.Val915Ala) c.3527T>C (p.Val1176Ala) c.*3362T>C (n.*3362T>C) c.*151T>C (n.*151T>C) n.3896T>C c.3710T>C (p.Val1237Ala) c.3665T>C (p.Val1222Ala) c.3620T>C (p.Val1207Ala) c.3689T>C (p.Val1230Ala) c.3674T>C (p.Val1225Ala) c.3653T>C (p.Val1218Ala) c.3647T>C (p.Val1216Ala) c.3602T>C (p.Val1201Ala) c.3593T>C (p.Val1198Ala) c.3569T>C (p.Val1190Ala) c.3563T>C (p.Val1188Ala) c.3536T>C (p.Val1179Ala) c.3530T>C (p.Val1177Ala) c.3524T>C (p.Val1175Ala) c.3485T>C (p.Val1162Ala) c.3473T>C (p.Val1158Ala) c.3416T>C (p.Val1139Ala) c.3392T>C (p.Val1131Ala) c.3386T>C (p.Val1129Ala) c.3368T>C (p.Val1123Ala) c.3314T>C (p.Val1105Ala) c.2621T>C (p.Val874Ala) c.2534T>C (p.Val845Ala) n.3810T>C | dbSNP |
17 | g.39727848T>G | CA399313672 | ERBB2 | c.3572T>G (p.Val1191Gly) c.3482T>G (p.Val1161Gly) c.2744T>G (p.Val915Gly) c.3527T>G (p.Val1176Gly) c.*3362T>G (n.*3362T>G) c.*151T>G (n.*151T>G) n.3896T>G c.3710T>G (p.Val1237Gly) c.3665T>G (p.Val1222Gly) c.3620T>G (p.Val1207Gly) c.3689T>G (p.Val1230Gly) c.3674T>G (p.Val1225Gly) c.3653T>G (p.Val1218Gly) c.3647T>G (p.Val1216Gly) c.3602T>G (p.Val1201Gly) c.3593T>G (p.Val1198Gly) c.3569T>G (p.Val1190Gly) c.3563T>G (p.Val1188Gly) c.3536T>G (p.Val1179Gly) c.3530T>G (p.Val1177Gly) c.3524T>G (p.Val1175Gly) c.3485T>G (p.Val1162Gly) c.3473T>G (p.Val1158Gly) c.3416T>G (p.Val1139Gly) c.3392T>G (p.Val1131Gly) c.3386T>G (p.Val1129Gly) c.3368T>G (p.Val1123Gly) c.3314T>G (p.Val1105Gly) c.2621T>G (p.Val874Gly) c.2534T>G (p.Val845Gly) n.3810T>G | |
17 | g.39727848T= | CA2259229291 | ERBB2 | c.3572T= (p.Val1191=) c.3482T= (p.Val1161=) c.2744T= (p.Val915=) c.3527T= (p.Val1176=) c.*3362T= (n.*3362T=) c.*151T= (n.*151T=) n.3896T= c.3710T= (p.Val1237=) c.3665T= (p.Val1222=) c.3620T= (p.Val1207=) c.3689T= (p.Val1230=) c.3674T= (p.Val1225=) c.3653T= (p.Val1218=) c.3647T= (p.Val1216=) c.3602T= (p.Val1201=) c.3593T= (p.Val1198=) c.3569T= (p.Val1190=) c.3563T= (p.Val1188=) c.3536T= (p.Val1179=) c.3530T= (p.Val1177=) c.3524T= (p.Val1175=) c.3485T= (p.Val1162=) c.3473T= (p.Val1158=) c.3416T= (p.Val1139=) c.3392T= (p.Val1131=) c.3386T= (p.Val1129=) c.3368T= (p.Val1123=) c.3314T= (p.Val1105=) c.2621T= (p.Val874=) c.2534T= (p.Val845=) n.3810T= | |
17 | g.39727849G>A | CA8534587 | ERBB2 | c.3573G>A (p.Val1191=) c.3483G>A (p.Val1161=) c.2745G>A (p.Val915=) c.3528G>A (p.Val1176=) c.*3363G>A (n.*3363G>A) c.*152G>A (n.*152G>A) n.3897G>A c.3711G>A (p.Val1237=) c.3666G>A (p.Val1222=) c.3621G>A (p.Val1207=) c.3690G>A (p.Val1230=) c.3675G>A (p.Val1225=) c.3654G>A (p.Val1218=) c.3648G>A (p.Val1216=) c.3603G>A (p.Val1201=) c.3594G>A (p.Val1198=) c.3570G>A (p.Val1190=) c.3564G>A (p.Val1188=) c.3537G>A (p.Val1179=) c.3531G>A (p.Val1177=) c.3525G>A (p.Val1175=) c.3486G>A (p.Val1162=) c.3474G>A (p.Val1158=) c.3417G>A (p.Val1139=) c.3393G>A (p.Val1131=) c.3387G>A (p.Val1129=) c.3369G>A (p.Val1123=) c.3315G>A (p.Val1105=) c.2622G>A (p.Val874=) c.2535G>A (p.Val845=) n.3811G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727849G>C | CA499890755 | ERBB2 | c.3573G>C (p.Val1191=) c.3483G>C (p.Val1161=) c.2745G>C (p.Val915=) c.3528G>C (p.Val1176=) c.*3363G>C (n.*3363G>C) c.*152G>C (n.*152G>C) n.3897G>C c.3711G>C (p.Val1237=) c.3666G>C (p.Val1222=) c.3621G>C (p.Val1207=) c.3690G>C (p.Val1230=) c.3675G>C (p.Val1225=) c.3654G>C (p.Val1218=) c.3648G>C (p.Val1216=) c.3603G>C (p.Val1201=) c.3594G>C (p.Val1198=) c.3570G>C (p.Val1190=) c.3564G>C (p.Val1188=) c.3537G>C (p.Val1179=) c.3531G>C (p.Val1177=) c.3525G>C (p.Val1175=) c.3486G>C (p.Val1162=) c.3474G>C (p.Val1158=) c.3417G>C (p.Val1139=) c.3393G>C (p.Val1131=) c.3387G>C (p.Val1129=) c.3369G>C (p.Val1123=) c.3315G>C (p.Val1105=) c.2622G>C (p.Val874=) c.2535G>C (p.Val845=) n.3811G>C | dbSNP |
17 | g.39727849G= | CA2259229292 | ERBB2 | c.3573G= (p.Val1191=) c.3483G= (p.Val1161=) c.2745G= (p.Val915=) c.3528G= (p.Val1176=) c.*3363G= (n.*3363G=) c.*152G= (n.*152G=) n.3897G= c.3711G= (p.Val1237=) c.3666G= (p.Val1222=) c.3621G= (p.Val1207=) c.3690G= (p.Val1230=) c.3675G= (p.Val1225=) c.3654G= (p.Val1218=) c.3648G= (p.Val1216=) c.3603G= (p.Val1201=) c.3594G= (p.Val1198=) c.3570G= (p.Val1190=) c.3564G= (p.Val1188=) c.3537G= (p.Val1179=) c.3531G= (p.Val1177=) c.3525G= (p.Val1175=) c.3486G= (p.Val1162=) c.3474G= (p.Val1158=) c.3417G= (p.Val1139=) c.3393G= (p.Val1131=) c.3387G= (p.Val1129=) c.3369G= (p.Val1123=) c.3315G= (p.Val1105=) c.2622G= (p.Val874=) c.2535G= (p.Val845=) n.3811G= | |
17 | g.39727849G>T | CA499890756 | ERBB2 | c.3573G>T (p.Val1191=) c.3483G>T (p.Val1161=) c.2745G>T (p.Val915=) c.3528G>T (p.Val1176=) c.*3363G>T (n.*3363G>T) c.*152G>T (n.*152G>T) n.3897G>T c.3711G>T (p.Val1237=) c.3666G>T (p.Val1222=) c.3621G>T (p.Val1207=) c.3690G>T (p.Val1230=) c.3675G>T (p.Val1225=) c.3654G>T (p.Val1218=) c.3648G>T (p.Val1216=) c.3603G>T (p.Val1201=) c.3594G>T (p.Val1198=) c.3570G>T (p.Val1190=) c.3564G>T (p.Val1188=) c.3537G>T (p.Val1179=) c.3531G>T (p.Val1177=) c.3525G>T (p.Val1175=) c.3486G>T (p.Val1162=) c.3474G>T (p.Val1158=) c.3417G>T (p.Val1139=) c.3393G>T (p.Val1131=) c.3387G>T (p.Val1129=) c.3369G>T (p.Val1123=) c.3315G>T (p.Val1105=) c.2622G>T (p.Val874=) c.2535G>T (p.Val845=) n.3811G>T | dbSNP |
17 | g.39727850_39727852del | CA2637630595 | ERBB2 | c.3574_3576del (p.Glu1192del) c.3484_3486del (p.Glu1162del) c.2746_2748del (p.Glu916del) c.3529_3531del (p.Glu1177del) c.*3364_*3366del (n.*3364_*3366del) c.*153_*155del (n.*153_*155del) n.3898_3900del c.3712_3714del (p.Glu1238del) c.3667_3669del (p.Glu1223del) c.3622_3624del (p.Glu1208del) c.3691_3693del (p.Glu1231del) c.3676_3678del (p.Glu1226del) c.3655_3657del (p.Glu1219del) c.3649_3651del (p.Glu1217del) c.3604_3606del (p.Glu1202del) c.3595_3597del (p.Glu1199del) c.3571_3573del (p.Glu1191del) c.3565_3567del (p.Glu1189del) c.3538_3540del (p.Glu1180del) c.3532_3534del (p.Glu1178del) c.3526_3528del (p.Glu1176del) c.3487_3489del (p.Glu1163del) c.3475_3477del (p.Glu1159del) c.3418_3420del (p.Glu1140del) c.3394_3396del (p.Glu1132del) c.3388_3390del (p.Glu1130del) c.3370_3372del (p.Glu1124del) c.3316_3318del (p.Glu1106del) c.2623_2625del (p.Glu875del) c.2536_2538del (p.Glu846del) n.3812_3814del | gnomAD v4 |
17 | g.39727850G>A | CA399313677 | ERBB2 | c.3574G>A (p.Glu1192Lys) c.3484G>A (p.Glu1162Lys) c.2746G>A (p.Glu916Lys) c.3529G>A (p.Glu1177Lys) c.*3364G>A (n.*3364G>A) c.*153G>A (n.*153G>A) n.3898G>A c.3712G>A (p.Glu1238Lys) c.3667G>A (p.Glu1223Lys) c.3622G>A (p.Glu1208Lys) c.3691G>A (p.Glu1231Lys) c.3676G>A (p.Glu1226Lys) c.3655G>A (p.Glu1219Lys) c.3649G>A (p.Glu1217Lys) c.3604G>A (p.Glu1202Lys) c.3595G>A (p.Glu1199Lys) c.3571G>A (p.Glu1191Lys) c.3565G>A (p.Glu1189Lys) c.3538G>A (p.Glu1180Lys) c.3532G>A (p.Glu1178Lys) c.3526G>A (p.Glu1176Lys) c.3487G>A (p.Glu1163Lys) c.3475G>A (p.Glu1159Lys) c.3418G>A (p.Glu1140Lys) c.3394G>A (p.Glu1132Lys) c.3388G>A (p.Glu1130Lys) c.3370G>A (p.Glu1124Lys) c.3316G>A (p.Glu1106Lys) c.2623G>A (p.Glu875Lys) c.2536G>A (p.Glu846Lys) n.3812G>A | dbSNP |
17 | g.39727850G>C | CA399313681 | ERBB2 | c.3574G>C (p.Glu1192Gln) c.3484G>C (p.Glu1162Gln) c.2746G>C (p.Glu916Gln) c.3529G>C (p.Glu1177Gln) c.*3364G>C (n.*3364G>C) c.*153G>C (n.*153G>C) n.3898G>C c.3712G>C (p.Glu1238Gln) c.3667G>C (p.Glu1223Gln) c.3622G>C (p.Glu1208Gln) c.3691G>C (p.Glu1231Gln) c.3676G>C (p.Glu1226Gln) c.3655G>C (p.Glu1219Gln) c.3649G>C (p.Glu1217Gln) c.3604G>C (p.Glu1202Gln) c.3595G>C (p.Glu1199Gln) c.3571G>C (p.Glu1191Gln) c.3565G>C (p.Glu1189Gln) c.3538G>C (p.Glu1180Gln) c.3532G>C (p.Glu1178Gln) c.3526G>C (p.Glu1176Gln) c.3487G>C (p.Glu1163Gln) c.3475G>C (p.Glu1159Gln) c.3418G>C (p.Glu1140Gln) c.3394G>C (p.Glu1132Gln) c.3388G>C (p.Glu1130Gln) c.3370G>C (p.Glu1124Gln) c.3316G>C (p.Glu1106Gln) c.2623G>C (p.Glu875Gln) c.2536G>C (p.Glu846Gln) n.3812G>C | dbSNP |
17 | g.39727850G= | CA2259229293 | ERBB2 | c.3574G= (p.Glu1192=) c.3484G= (p.Glu1162=) c.2746G= (p.Glu916=) c.3529G= (p.Glu1177=) c.*3364G= (n.*3364G=) c.*153G= (n.*153G=) n.3898G= c.3712G= (p.Glu1238=) c.3667G= (p.Glu1223=) c.3622G= (p.Glu1208=) c.3691G= (p.Glu1231=) c.3676G= (p.Glu1226=) c.3655G= (p.Glu1219=) c.3649G= (p.Glu1217=) c.3604G= (p.Glu1202=) c.3595G= (p.Glu1199=) c.3571G= (p.Glu1191=) c.3565G= (p.Glu1189=) c.3538G= (p.Glu1180=) c.3532G= (p.Glu1178=) c.3526G= (p.Glu1176=) c.3487G= (p.Glu1163=) c.3475G= (p.Glu1159=) c.3418G= (p.Glu1140=) c.3394G= (p.Glu1132=) c.3388G= (p.Glu1130=) c.3370G= (p.Glu1124=) c.3316G= (p.Glu1106=) c.2623G= (p.Glu875=) c.2536G= (p.Glu846=) n.3812G= | |
17 | g.39727850G>T | CA290443982 | ERBB2 | c.3574G>T (p.Glu1192Ter) c.3484G>T (p.Glu1162Ter) c.2746G>T (p.Glu916Ter) c.3529G>T (p.Glu1177Ter) c.*3364G>T (n.*3364G>T) c.*153G>T (n.*153G>T) n.3898G>T c.3712G>T (p.Glu1238Ter) c.3667G>T (p.Glu1223Ter) c.3622G>T (p.Glu1208Ter) c.3691G>T (p.Glu1231Ter) c.3676G>T (p.Glu1226Ter) c.3655G>T (p.Glu1219Ter) c.3649G>T (p.Glu1217Ter) c.3604G>T (p.Glu1202Ter) c.3595G>T (p.Glu1199Ter) c.3571G>T (p.Glu1191Ter) c.3565G>T (p.Glu1189Ter) c.3538G>T (p.Glu1180Ter) c.3532G>T (p.Glu1178Ter) c.3526G>T (p.Glu1176Ter) c.3487G>T (p.Glu1163Ter) c.3475G>T (p.Glu1159Ter) c.3418G>T (p.Glu1140Ter) c.3394G>T (p.Glu1132Ter) c.3388G>T (p.Glu1130Ter) c.3370G>T (p.Glu1124Ter) c.3316G>T (p.Glu1106Ter) c.2623G>T (p.Glu875Ter) c.2536G>T (p.Glu846Ter) n.3812G>T | dbSNP |
17 | g.39727851A>C | CA399313699 | ERBB2 | c.3575A>C (p.Glu1192Ala) c.3485A>C (p.Glu1162Ala) c.2747A>C (p.Glu916Ala) c.3530A>C (p.Glu1177Ala) c.*3365A>C (n.*3365A>C) c.*154A>C (n.*154A>C) n.3899A>C c.3713A>C (p.Glu1238Ala) c.3668A>C (p.Glu1223Ala) c.3623A>C (p.Glu1208Ala) c.3692A>C (p.Glu1231Ala) c.3677A>C (p.Glu1226Ala) c.3656A>C (p.Glu1219Ala) c.3650A>C (p.Glu1217Ala) c.3605A>C (p.Glu1202Ala) c.3596A>C (p.Glu1199Ala) c.3572A>C (p.Glu1191Ala) c.3566A>C (p.Glu1189Ala) c.3539A>C (p.Glu1180Ala) c.3533A>C (p.Glu1178Ala) c.3527A>C (p.Glu1176Ala) c.3488A>C (p.Glu1163Ala) c.3476A>C (p.Glu1159Ala) c.3419A>C (p.Glu1140Ala) c.3395A>C (p.Glu1132Ala) c.3389A>C (p.Glu1130Ala) c.3371A>C (p.Glu1124Ala) c.3317A>C (p.Glu1106Ala) c.2624A>C (p.Glu875Ala) c.2537A>C (p.Glu846Ala) n.3813A>C | |
17 | g.39727851A>G | CA399313694 | ERBB2 | c.3575A>G (p.Glu1192Gly) c.3485A>G (p.Glu1162Gly) c.2747A>G (p.Glu916Gly) c.3530A>G (p.Glu1177Gly) c.*3365A>G (n.*3365A>G) c.*154A>G (n.*154A>G) n.3899A>G c.3713A>G (p.Glu1238Gly) c.3668A>G (p.Glu1223Gly) c.3623A>G (p.Glu1208Gly) c.3692A>G (p.Glu1231Gly) c.3677A>G (p.Glu1226Gly) c.3656A>G (p.Glu1219Gly) c.3650A>G (p.Glu1217Gly) c.3605A>G (p.Glu1202Gly) c.3596A>G (p.Glu1199Gly) c.3572A>G (p.Glu1191Gly) c.3566A>G (p.Glu1189Gly) c.3539A>G (p.Glu1180Gly) c.3533A>G (p.Glu1178Gly) c.3527A>G (p.Glu1176Gly) c.3488A>G (p.Glu1163Gly) c.3476A>G (p.Glu1159Gly) c.3419A>G (p.Glu1140Gly) c.3395A>G (p.Glu1132Gly) c.3389A>G (p.Glu1130Gly) c.3371A>G (p.Glu1124Gly) c.3317A>G (p.Glu1106Gly) c.2624A>G (p.Glu875Gly) c.2537A>G (p.Glu846Gly) n.3813A>G | dbSNP |
17 | g.39727851A>T | CA399313691 | ERBB2 | c.3575A>T (p.Glu1192Val) c.3485A>T (p.Glu1162Val) c.2747A>T (p.Glu916Val) c.3530A>T (p.Glu1177Val) c.*3365A>T (n.*3365A>T) c.*154A>T (n.*154A>T) n.3899A>T c.3713A>T (p.Glu1238Val) c.3668A>T (p.Glu1223Val) c.3623A>T (p.Glu1208Val) c.3692A>T (p.Glu1231Val) c.3677A>T (p.Glu1226Val) c.3656A>T (p.Glu1219Val) c.3650A>T (p.Glu1217Val) c.3605A>T (p.Glu1202Val) c.3596A>T (p.Glu1199Val) c.3572A>T (p.Glu1191Val) c.3566A>T (p.Glu1189Val) c.3539A>T (p.Glu1180Val) c.3533A>T (p.Glu1178Val) c.3527A>T (p.Glu1176Val) c.3488A>T (p.Glu1163Val) c.3476A>T (p.Glu1159Val) c.3419A>T (p.Glu1140Val) c.3395A>T (p.Glu1132Val) c.3389A>T (p.Glu1130Val) c.3371A>T (p.Glu1124Val) c.3317A>T (p.Glu1106Val) c.2624A>T (p.Glu875Val) c.2537A>T (p.Glu846Val) n.3813A>T | dbSNP |
17 | g.39727852G>A | CA499890758 | ERBB2 | c.3576G>A (p.Glu1192=) c.3486G>A (p.Glu1162=) c.2748G>A (p.Glu916=) c.3531G>A (p.Glu1177=) c.*3366G>A (n.*3366G>A) c.*155G>A (n.*155G>A) n.3900G>A c.3714G>A (p.Glu1238=) c.3669G>A (p.Glu1223=) c.3624G>A (p.Glu1208=) c.3693G>A (p.Glu1231=) c.3678G>A (p.Glu1226=) c.3657G>A (p.Glu1219=) c.3651G>A (p.Glu1217=) c.3606G>A (p.Glu1202=) c.3597G>A (p.Glu1199=) c.3573G>A (p.Glu1191=) c.3567G>A (p.Glu1189=) c.3540G>A (p.Glu1180=) c.3534G>A (p.Glu1178=) c.3528G>A (p.Glu1176=) c.3489G>A (p.Glu1163=) c.3477G>A (p.Glu1159=) c.3420G>A (p.Glu1140=) c.3396G>A (p.Glu1132=) c.3390G>A (p.Glu1130=) c.3372G>A (p.Glu1124=) c.3318G>A (p.Glu1106=) c.2625G>A (p.Glu875=) c.2538G>A (p.Glu846=) n.3814G>A | dbSNP |
17 | g.39727852G>C | CA399313702 | ERBB2 | c.3576G>C (p.Glu1192Asp) c.3486G>C (p.Glu1162Asp) c.2748G>C (p.Glu916Asp) c.3531G>C (p.Glu1177Asp) c.*3366G>C (n.*3366G>C) c.*155G>C (n.*155G>C) n.3900G>C c.3714G>C (p.Glu1238Asp) c.3669G>C (p.Glu1223Asp) c.3624G>C (p.Glu1208Asp) c.3693G>C (p.Glu1231Asp) c.3678G>C (p.Glu1226Asp) c.3657G>C (p.Glu1219Asp) c.3651G>C (p.Glu1217Asp) c.3606G>C (p.Glu1202Asp) c.3597G>C (p.Glu1199Asp) c.3573G>C (p.Glu1191Asp) c.3567G>C (p.Glu1189Asp) c.3540G>C (p.Glu1180Asp) c.3534G>C (p.Glu1178Asp) c.3528G>C (p.Glu1176Asp) c.3489G>C (p.Glu1163Asp) c.3477G>C (p.Glu1159Asp) c.3420G>C (p.Glu1140Asp) c.3396G>C (p.Glu1132Asp) c.3390G>C (p.Glu1130Asp) c.3372G>C (p.Glu1124Asp) c.3318G>C (p.Glu1106Asp) c.2625G>C (p.Glu875Asp) c.2538G>C (p.Glu846Asp) n.3814G>C | dbSNP |
17 | g.39727852G>T | CA399313708 | ERBB2 | c.3576G>T (p.Glu1192Asp) c.3486G>T (p.Glu1162Asp) c.2748G>T (p.Glu916Asp) c.3531G>T (p.Glu1177Asp) c.*3366G>T (n.*3366G>T) c.*155G>T (n.*155G>T) n.3900G>T c.3714G>T (p.Glu1238Asp) c.3669G>T (p.Glu1223Asp) c.3624G>T (p.Glu1208Asp) c.3693G>T (p.Glu1231Asp) c.3678G>T (p.Glu1226Asp) c.3657G>T (p.Glu1219Asp) c.3651G>T (p.Glu1217Asp) c.3606G>T (p.Glu1202Asp) c.3597G>T (p.Glu1199Asp) c.3573G>T (p.Glu1191Asp) c.3567G>T (p.Glu1189Asp) c.3540G>T (p.Glu1180Asp) c.3534G>T (p.Glu1178Asp) c.3528G>T (p.Glu1176Asp) c.3489G>T (p.Glu1163Asp) c.3477G>T (p.Glu1159Asp) c.3420G>T (p.Glu1140Asp) c.3396G>T (p.Glu1132Asp) c.3390G>T (p.Glu1130Asp) c.3372G>T (p.Glu1124Asp) c.3318G>T (p.Glu1106Asp) c.2625G>T (p.Glu875Asp) c.2538G>T (p.Glu846Asp) n.3814G>T | dbSNP |
17 | g.39727853A>C | CA399313714 | ERBB2 | c.3577A>C (p.Asn1193His) c.3487A>C (p.Asn1163His) c.2749A>C (p.Asn917His) c.3532A>C (p.Asn1178His) c.*3367A>C (n.*3367A>C) c.*156A>C (n.*156A>C) n.3901A>C c.3715A>C (p.Asn1239His) c.3670A>C (p.Asn1224His) c.3625A>C (p.Asn1209His) c.3694A>C (p.Asn1232His) c.3679A>C (p.Asn1227His) c.3658A>C (p.Asn1220His) c.3652A>C (p.Asn1218His) c.3607A>C (p.Asn1203His) c.3598A>C (p.Asn1200His) c.3574A>C (p.Asn1192His) c.3568A>C (p.Asn1190His) c.3541A>C (p.Asn1181His) c.3535A>C (p.Asn1179His) c.3529A>C (p.Asn1177His) c.3490A>C (p.Asn1164His) c.3478A>C (p.Asn1160His) c.3421A>C (p.Asn1141His) c.3397A>C (p.Asn1133His) c.3391A>C (p.Asn1131His) c.3373A>C (p.Asn1125His) c.3319A>C (p.Asn1107His) c.2626A>C (p.Asn876His) c.2539A>C (p.Asn847His) n.3815A>C | dbSNP |
17 | g.39727853A>G | CA399313717 | ERBB2 | c.3577A>G (p.Asn1193Asp) c.3487A>G (p.Asn1163Asp) c.2749A>G (p.Asn917Asp) c.3532A>G (p.Asn1178Asp) c.*3367A>G (n.*3367A>G) c.*156A>G (n.*156A>G) n.3901A>G c.3715A>G (p.Asn1239Asp) c.3670A>G (p.Asn1224Asp) c.3625A>G (p.Asn1209Asp) c.3694A>G (p.Asn1232Asp) c.3679A>G (p.Asn1227Asp) c.3658A>G (p.Asn1220Asp) c.3652A>G (p.Asn1218Asp) c.3607A>G (p.Asn1203Asp) c.3598A>G (p.Asn1200Asp) c.3574A>G (p.Asn1192Asp) c.3568A>G (p.Asn1190Asp) c.3541A>G (p.Asn1181Asp) c.3535A>G (p.Asn1179Asp) c.3529A>G (p.Asn1177Asp) c.3490A>G (p.Asn1164Asp) c.3478A>G (p.Asn1160Asp) c.3421A>G (p.Asn1141Asp) c.3397A>G (p.Asn1133Asp) c.3391A>G (p.Asn1131Asp) c.3373A>G (p.Asn1125Asp) c.3319A>G (p.Asn1107Asp) c.2626A>G (p.Asn876Asp) c.2539A>G (p.Asn847Asp) n.3815A>G | dbSNP |
17 | g.39727853A>T | CA399313720 | ERBB2 | c.3577A>T (p.Asn1193Tyr) c.3487A>T (p.Asn1163Tyr) c.2749A>T (p.Asn917Tyr) c.3532A>T (p.Asn1178Tyr) c.*3367A>T (n.*3367A>T) c.*156A>T (n.*156A>T) n.3901A>T c.3715A>T (p.Asn1239Tyr) c.3670A>T (p.Asn1224Tyr) c.3625A>T (p.Asn1209Tyr) c.3694A>T (p.Asn1232Tyr) c.3679A>T (p.Asn1227Tyr) c.3658A>T (p.Asn1220Tyr) c.3652A>T (p.Asn1218Tyr) c.3607A>T (p.Asn1203Tyr) c.3598A>T (p.Asn1200Tyr) c.3574A>T (p.Asn1192Tyr) c.3568A>T (p.Asn1190Tyr) c.3541A>T (p.Asn1181Tyr) c.3535A>T (p.Asn1179Tyr) c.3529A>T (p.Asn1177Tyr) c.3490A>T (p.Asn1164Tyr) c.3478A>T (p.Asn1160Tyr) c.3421A>T (p.Asn1141Tyr) c.3397A>T (p.Asn1133Tyr) c.3391A>T (p.Asn1131Tyr) c.3373A>T (p.Asn1125Tyr) c.3319A>T (p.Asn1107Tyr) c.2626A>T (p.Asn876Tyr) c.2539A>T (p.Asn847Tyr) n.3815A>T | dbSNP |
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 |