Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39727341_39727343del | CA2576254901 | ERBB2 | c.3206_3208del (p.Glu1069del) c.3116_3118del (p.Glu1039del) c.2378_2380del (p.Glu793del) c.3161_3163del (p.Glu1054del) c.*2996_*2998del (n.*2996_*2998del) c.3159+338_3159+340del (n.3159+338_3159+340del) n.3530_3532del c.3344_3346del (p.Glu1115del) c.3299_3301del (p.Glu1100del) c.3254_3256del (p.Glu1085del) c.3323_3325del (p.Glu1108del) c.3308_3310del (p.Glu1103del) c.3287_3289del (p.Glu1096del) c.3281_3283del (p.Glu1094del) c.3236_3238del (p.Glu1079del) c.3227_3229del (p.Glu1076del) c.3203_3205del (p.Glu1068del) c.3197_3199del (p.Glu1066del) c.3170_3172del (p.Glu1057del) c.3164_3166del (p.Glu1055del) c.3158_3160del (p.Glu1053del) c.3119_3121del (p.Glu1040del) c.3107_3109del (p.Glu1036del) c.3050_3052del (p.Glu1017del) c.3026_3028del (p.Glu1009del) c.3020_3022del (p.Glu1007del) c.3002_3004del (p.Glu1001del) c.2948_2950del (p.Glu983del) c.3117+338_3117+340del (n.3117+338_3117+340del) c.2255_2257del (p.Glu752del) c.2168_2170del (p.Glu723del) n.3444_3446del | gnomAD v4 |
17 | g.39727341A= | CA2259228685 | ERBB2 | c.3206A= (p.Glu1069=) c.3116A= (p.Glu1039=) c.2378A= (p.Glu793=) c.3161A= (p.Glu1054=) c.*2996A= (n.*2996A=) c.3159+338A= (n.3159+338A=) n.3530A= c.3344A= (p.Glu1115=) c.3299A= (p.Glu1100=) c.3254A= (p.Glu1085=) c.3323A= (p.Glu1108=) c.3308A= (p.Glu1103=) c.3287A= (p.Glu1096=) c.3281A= (p.Glu1094=) c.3236A= (p.Glu1079=) c.3227A= (p.Glu1076=) c.3203A= (p.Glu1068=) c.3197A= (p.Glu1066=) c.3170A= (p.Glu1057=) c.3164A= (p.Glu1055=) c.3158A= (p.Glu1053=) c.3119A= (p.Glu1040=) c.3107A= (p.Glu1036=) c.3050A= (p.Glu1017=) c.3026A= (p.Glu1009=) c.3020A= (p.Glu1007=) c.3002A= (p.Glu1001=) c.2948A= (p.Glu983=) c.3117+338A= (n.3117+338A=) c.2255A= (p.Glu752=) c.2168A= (p.Glu723=) n.3444A= | |
17 | g.39727341A>C | CA399310272 | ERBB2 | c.3206A>C (p.Glu1069Ala) c.3116A>C (p.Glu1039Ala) c.2378A>C (p.Glu793Ala) c.3161A>C (p.Glu1054Ala) c.*2996A>C (n.*2996A>C) c.3159+338A>C (n.3159+338A>C) n.3530A>C c.3344A>C (p.Glu1115Ala) c.3299A>C (p.Glu1100Ala) c.3254A>C (p.Glu1085Ala) c.3323A>C (p.Glu1108Ala) c.3308A>C (p.Glu1103Ala) c.3287A>C (p.Glu1096Ala) c.3281A>C (p.Glu1094Ala) c.3236A>C (p.Glu1079Ala) c.3227A>C (p.Glu1076Ala) c.3203A>C (p.Glu1068Ala) c.3197A>C (p.Glu1066Ala) c.3170A>C (p.Glu1057Ala) c.3164A>C (p.Glu1055Ala) c.3158A>C (p.Glu1053Ala) c.3119A>C (p.Glu1040Ala) c.3107A>C (p.Glu1036Ala) c.3050A>C (p.Glu1017Ala) c.3026A>C (p.Glu1009Ala) c.3020A>C (p.Glu1007Ala) c.3002A>C (p.Glu1001Ala) c.2948A>C (p.Glu983Ala) c.3117+338A>C (n.3117+338A>C) c.2255A>C (p.Glu752Ala) c.2168A>C (p.Glu723Ala) n.3444A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727341A>G | CA399310274 | ERBB2 | c.3206A>G (p.Glu1069Gly) c.3116A>G (p.Glu1039Gly) c.2378A>G (p.Glu793Gly) c.3161A>G (p.Glu1054Gly) c.*2996A>G (n.*2996A>G) c.3159+338A>G (n.3159+338A>G) n.3530A>G c.3344A>G (p.Glu1115Gly) c.3299A>G (p.Glu1100Gly) c.3254A>G (p.Glu1085Gly) c.3323A>G (p.Glu1108Gly) c.3308A>G (p.Glu1103Gly) c.3287A>G (p.Glu1096Gly) c.3281A>G (p.Glu1094Gly) c.3236A>G (p.Glu1079Gly) c.3227A>G (p.Glu1076Gly) c.3203A>G (p.Glu1068Gly) c.3197A>G (p.Glu1066Gly) c.3170A>G (p.Glu1057Gly) c.3164A>G (p.Glu1055Gly) c.3158A>G (p.Glu1053Gly) c.3119A>G (p.Glu1040Gly) c.3107A>G (p.Glu1036Gly) c.3050A>G (p.Glu1017Gly) c.3026A>G (p.Glu1009Gly) c.3020A>G (p.Glu1007Gly) c.3002A>G (p.Glu1001Gly) c.2948A>G (p.Glu983Gly) c.3117+338A>G (n.3117+338A>G) c.2255A>G (p.Glu752Gly) c.2168A>G (p.Glu723Gly) n.3444A>G | dbSNP gnomAD v4 |
17 | g.39727341A>T | CA399310275 | ERBB2 | c.3206A>T (p.Glu1069Val) c.3116A>T (p.Glu1039Val) c.2378A>T (p.Glu793Val) c.3161A>T (p.Glu1054Val) c.*2996A>T (n.*2996A>T) c.3159+338A>T (n.3159+338A>T) n.3530A>T c.3344A>T (p.Glu1115Val) c.3299A>T (p.Glu1100Val) c.3254A>T (p.Glu1085Val) c.3323A>T (p.Glu1108Val) c.3308A>T (p.Glu1103Val) c.3287A>T (p.Glu1096Val) c.3281A>T (p.Glu1094Val) c.3236A>T (p.Glu1079Val) c.3227A>T (p.Glu1076Val) c.3203A>T (p.Glu1068Val) c.3197A>T (p.Glu1066Val) c.3170A>T (p.Glu1057Val) c.3164A>T (p.Glu1055Val) c.3158A>T (p.Glu1053Val) c.3119A>T (p.Glu1040Val) c.3107A>T (p.Glu1036Val) c.3050A>T (p.Glu1017Val) c.3026A>T (p.Glu1009Val) c.3020A>T (p.Glu1007Val) c.3002A>T (p.Glu1001Val) c.2948A>T (p.Glu983Val) c.3117+338A>T (n.3117+338A>T) c.2255A>T (p.Glu752Val) c.2168A>T (p.Glu723Val) n.3444A>T | dbSNP gnomAD v4 |
17 | g.39727342G>A | CA499671602 | ERBB2 | c.3207G>A (p.Glu1069=) c.3117G>A (p.Glu1039=) c.2379G>A (p.Glu793=) c.3162G>A (p.Glu1054=) c.*2997G>A (n.*2997G>A) c.3159+339G>A (n.3159+339G>A) n.3531G>A c.3345G>A (p.Glu1115=) c.3300G>A (p.Glu1100=) c.3255G>A (p.Glu1085=) c.3324G>A (p.Glu1108=) c.3309G>A (p.Glu1103=) c.3288G>A (p.Glu1096=) c.3282G>A (p.Glu1094=) c.3237G>A (p.Glu1079=) c.3228G>A (p.Glu1076=) c.3204G>A (p.Glu1068=) c.3198G>A (p.Glu1066=) c.3171G>A (p.Glu1057=) c.3165G>A (p.Glu1055=) c.3159G>A (p.Glu1053=) c.3120G>A (p.Glu1040=) c.3108G>A (p.Glu1036=) c.3051G>A (p.Glu1017=) c.3027G>A (p.Glu1009=) c.3021G>A (p.Glu1007=) c.3003G>A (p.Glu1001=) c.2949G>A (p.Glu983=) c.3117+339G>A (n.3117+339G>A) c.2256G>A (p.Glu752=) c.2169G>A (p.Glu723=) n.3445G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727342G>C | CA290443187 | ERBB2 | c.3207G>C (p.Glu1069Asp) c.3117G>C (p.Glu1039Asp) c.2379G>C (p.Glu793Asp) c.3162G>C (p.Glu1054Asp) c.*2997G>C (n.*2997G>C) c.3159+339G>C (n.3159+339G>C) n.3531G>C c.3345G>C (p.Glu1115Asp) c.3300G>C (p.Glu1100Asp) c.3255G>C (p.Glu1085Asp) c.3324G>C (p.Glu1108Asp) c.3309G>C (p.Glu1103Asp) c.3288G>C (p.Glu1096Asp) c.3282G>C (p.Glu1094Asp) c.3237G>C (p.Glu1079Asp) c.3228G>C (p.Glu1076Asp) c.3204G>C (p.Glu1068Asp) c.3198G>C (p.Glu1066Asp) c.3171G>C (p.Glu1057Asp) c.3165G>C (p.Glu1055Asp) c.3159G>C (p.Glu1053Asp) c.3120G>C (p.Glu1040Asp) c.3108G>C (p.Glu1036Asp) c.3051G>C (p.Glu1017Asp) c.3027G>C (p.Glu1009Asp) c.3021G>C (p.Glu1007Asp) c.3003G>C (p.Glu1001Asp) c.2949G>C (p.Glu983Asp) c.3117+339G>C (n.3117+339G>C) c.2256G>C (p.Glu752Asp) c.2169G>C (p.Glu723Asp) n.3445G>C | dbSNP |
17 | g.39727342G= | CA2259228688 | ERBB2 | c.3207G= (p.Glu1069=) c.3117G= (p.Glu1039=) c.2379G= (p.Glu793=) c.3162G= (p.Glu1054=) c.*2997G= (n.*2997G=) c.3159+339G= (n.3159+339G=) n.3531G= c.3345G= (p.Glu1115=) c.3300G= (p.Glu1100=) c.3255G= (p.Glu1085=) c.3324G= (p.Glu1108=) c.3309G= (p.Glu1103=) c.3288G= (p.Glu1096=) c.3282G= (p.Glu1094=) c.3237G= (p.Glu1079=) c.3228G= (p.Glu1076=) c.3204G= (p.Glu1068=) c.3198G= (p.Glu1066=) c.3171G= (p.Glu1057=) c.3165G= (p.Glu1055=) c.3159G= (p.Glu1053=) c.3120G= (p.Glu1040=) c.3108G= (p.Glu1036=) c.3051G= (p.Glu1017=) c.3027G= (p.Glu1009=) c.3021G= (p.Glu1007=) c.3003G= (p.Glu1001=) c.2949G= (p.Glu983=) c.3117+339G= (n.3117+339G=) c.2256G= (p.Glu752=) c.2169G= (p.Glu723=) n.3445G= | |
17 | g.39727342G>T | CA399310277 | ERBB2 | c.3207G>T (p.Glu1069Asp) c.3117G>T (p.Glu1039Asp) c.2379G>T (p.Glu793Asp) c.3162G>T (p.Glu1054Asp) c.*2997G>T (n.*2997G>T) c.3159+339G>T (n.3159+339G>T) n.3531G>T c.3345G>T (p.Glu1115Asp) c.3300G>T (p.Glu1100Asp) c.3255G>T (p.Glu1085Asp) c.3324G>T (p.Glu1108Asp) c.3309G>T (p.Glu1103Asp) c.3288G>T (p.Glu1096Asp) c.3282G>T (p.Glu1094Asp) c.3237G>T (p.Glu1079Asp) c.3228G>T (p.Glu1076Asp) c.3204G>T (p.Glu1068Asp) c.3198G>T (p.Glu1066Asp) c.3171G>T (p.Glu1057Asp) c.3165G>T (p.Glu1055Asp) c.3159G>T (p.Glu1053Asp) c.3120G>T (p.Glu1040Asp) c.3108G>T (p.Glu1036Asp) c.3051G>T (p.Glu1017Asp) c.3027G>T (p.Glu1009Asp) c.3021G>T (p.Glu1007Asp) c.3003G>T (p.Glu1001Asp) c.2949G>T (p.Glu983Asp) c.3117+339G>T (n.3117+339G>T) c.2256G>T (p.Glu752Asp) c.2169G>T (p.Glu723Asp) n.3445G>T | dbSNP |
17 | g.39727342_39727377dup | CA2637628475 | ERBB2 | c.3207_3242dup (p.Ala1081_Gly1082insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3117_3152dup (p.Ala1051_Gly1052insAlaProArgSerProLeuAlaProSerGluGlyAla) c.2379_2414dup (p.Ala805_Gly806insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3162_3197dup (p.Ala1066_Gly1067insAlaProArgSerProLeuAlaProSerGluGlyAla) c.*2997_*3032dup (n.*2997_*3032dup) c.3159+339_3160-312dup (n.3159+339_3160-312dup) n.3531_3566dup c.3345_3380dup (p.Ala1127_Gly1128insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3300_3335dup (p.Ala1112_Gly1113insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3255_3290dup (p.Ala1097_Gly1098insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3324_3359dup (p.Ala1120_Gly1121insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3309_3344dup (p.Ala1115_Gly1116insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3288_3323dup (p.Ala1108_Gly1109insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3282_3317dup (p.Ala1106_Gly1107insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3237_3272dup (p.Ala1091_Gly1092insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3228_3263dup (p.Ala1088_Gly1089insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3204_3239dup (p.Ala1080_Gly1081insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3198_3233dup (p.Ala1078_Gly1079insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3171_3206dup (p.Ala1069_Gly1070insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3165_3200dup (p.Ala1067_Gly1068insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3159_3194dup (p.Ala1065_Gly1066insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3120_3155dup (p.Ala1052_Gly1053insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3108_3143dup (p.Ala1048_Gly1049insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3051_3086dup (p.Ala1029_Gly1030insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3027_3062dup (p.Ala1021_Gly1022insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3021_3056dup (p.Ala1019_Gly1020insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3003_3038dup (p.Ala1013_Gly1014insAlaProArgSerProLeuAlaProSerGluGlyAla) c.2949_2984dup (p.Ala995_Gly996insAlaProArgSerProLeuAlaProSerGluGlyAla) c.3117+339_3118-312dup (n.3117+339_3118-312dup) c.2256_2291dup (p.Ala764_Gly765insAlaProArgSerProLeuAlaProSerGluGlyAla) c.2169_2204dup (p.Ala735_Gly736insAlaProArgSerProLeuAlaProSerGluGlyAla) n.3445_3480dup | gnomAD v4 |
17 | g.39727343G>A | CA399310280 | ERBB2 | c.3208G>A (p.Ala1070Thr) c.3118G>A (p.Ala1040Thr) c.2380G>A (p.Ala794Thr) c.3163G>A (p.Ala1055Thr) c.*2998G>A (n.*2998G>A) c.3159+340G>A (n.3159+340G>A) n.3532G>A c.3346G>A (p.Ala1116Thr) c.3301G>A (p.Ala1101Thr) c.3256G>A (p.Ala1086Thr) c.3325G>A (p.Ala1109Thr) c.3310G>A (p.Ala1104Thr) c.3289G>A (p.Ala1097Thr) c.3283G>A (p.Ala1095Thr) c.3238G>A (p.Ala1080Thr) c.3229G>A (p.Ala1077Thr) c.3205G>A (p.Ala1069Thr) c.3199G>A (p.Ala1067Thr) c.3172G>A (p.Ala1058Thr) c.3166G>A (p.Ala1056Thr) c.3160G>A (p.Ala1054Thr) c.3121G>A (p.Ala1041Thr) c.3109G>A (p.Ala1037Thr) c.3052G>A (p.Ala1018Thr) c.3028G>A (p.Ala1010Thr) c.3022G>A (p.Ala1008Thr) c.3004G>A (p.Ala1002Thr) c.2950G>A (p.Ala984Thr) c.3117+340G>A (n.3117+340G>A) c.2257G>A (p.Ala753Thr) c.2170G>A (p.Ala724Thr) n.3446G>A | gnomAD v4 |
17 | g.39727343G>C | CA399310281 | ERBB2 | c.3208G>C (p.Ala1070Pro) c.3118G>C (p.Ala1040Pro) c.2380G>C (p.Ala794Pro) c.3163G>C (p.Ala1055Pro) c.*2998G>C (n.*2998G>C) c.3159+340G>C (n.3159+340G>C) n.3532G>C c.3346G>C (p.Ala1116Pro) c.3301G>C (p.Ala1101Pro) c.3256G>C (p.Ala1086Pro) c.3325G>C (p.Ala1109Pro) c.3310G>C (p.Ala1104Pro) c.3289G>C (p.Ala1097Pro) c.3283G>C (p.Ala1095Pro) c.3238G>C (p.Ala1080Pro) c.3229G>C (p.Ala1077Pro) c.3205G>C (p.Ala1069Pro) c.3199G>C (p.Ala1067Pro) c.3172G>C (p.Ala1058Pro) c.3166G>C (p.Ala1056Pro) c.3160G>C (p.Ala1054Pro) c.3121G>C (p.Ala1041Pro) c.3109G>C (p.Ala1037Pro) c.3052G>C (p.Ala1018Pro) c.3028G>C (p.Ala1010Pro) c.3022G>C (p.Ala1008Pro) c.3004G>C (p.Ala1002Pro) c.2950G>C (p.Ala984Pro) c.3117+340G>C (n.3117+340G>C) c.2257G>C (p.Ala753Pro) c.2170G>C (p.Ala724Pro) n.3446G>C | dbSNP |
17 | g.39727343G>T | CA399310283 | ERBB2 | c.3208G>T (p.Ala1070Ser) c.3118G>T (p.Ala1040Ser) c.2380G>T (p.Ala794Ser) c.3163G>T (p.Ala1055Ser) c.*2998G>T (n.*2998G>T) c.3159+340G>T (n.3159+340G>T) n.3532G>T c.3346G>T (p.Ala1116Ser) c.3301G>T (p.Ala1101Ser) c.3256G>T (p.Ala1086Ser) c.3325G>T (p.Ala1109Ser) c.3310G>T (p.Ala1104Ser) c.3289G>T (p.Ala1097Ser) c.3283G>T (p.Ala1095Ser) c.3238G>T (p.Ala1080Ser) c.3229G>T (p.Ala1077Ser) c.3205G>T (p.Ala1069Ser) c.3199G>T (p.Ala1067Ser) c.3172G>T (p.Ala1058Ser) c.3166G>T (p.Ala1056Ser) c.3160G>T (p.Ala1054Ser) c.3121G>T (p.Ala1041Ser) c.3109G>T (p.Ala1037Ser) c.3052G>T (p.Ala1018Ser) c.3028G>T (p.Ala1010Ser) c.3022G>T (p.Ala1008Ser) c.3004G>T (p.Ala1002Ser) c.2950G>T (p.Ala984Ser) c.3117+340G>T (n.3117+340G>T) c.2257G>T (p.Ala753Ser) c.2170G>T (p.Ala724Ser) n.3446G>T | |
17 | g.39727344C>A | CA399310285 | ERBB2 | c.3209C>A (p.Ala1070Asp) c.3119C>A (p.Ala1040Asp) c.2381C>A (p.Ala794Asp) c.3164C>A (p.Ala1055Asp) c.*2999C>A (n.*2999C>A) c.3159+341C>A (n.3159+341C>A) n.3533C>A c.3347C>A (p.Ala1116Asp) c.3302C>A (p.Ala1101Asp) c.3257C>A (p.Ala1086Asp) c.3326C>A (p.Ala1109Asp) c.3311C>A (p.Ala1104Asp) c.3290C>A (p.Ala1097Asp) c.3284C>A (p.Ala1095Asp) c.3239C>A (p.Ala1080Asp) c.3230C>A (p.Ala1077Asp) c.3206C>A (p.Ala1069Asp) c.3200C>A (p.Ala1067Asp) c.3173C>A (p.Ala1058Asp) c.3167C>A (p.Ala1056Asp) c.3161C>A (p.Ala1054Asp) c.3122C>A (p.Ala1041Asp) c.3110C>A (p.Ala1037Asp) c.3053C>A (p.Ala1018Asp) c.3029C>A (p.Ala1010Asp) c.3023C>A (p.Ala1008Asp) c.3005C>A (p.Ala1002Asp) c.2951C>A (p.Ala984Asp) c.3117+341C>A (n.3117+341C>A) c.2258C>A (p.Ala753Asp) c.2171C>A (p.Ala724Asp) n.3447C>A | dbSNP |
17 | g.39727344C>G | CA399310287 | ERBB2 | c.3209C>G (p.Ala1070Gly) c.3119C>G (p.Ala1040Gly) c.2381C>G (p.Ala794Gly) c.3164C>G (p.Ala1055Gly) c.*2999C>G (n.*2999C>G) c.3159+341C>G (n.3159+341C>G) n.3533C>G c.3347C>G (p.Ala1116Gly) c.3302C>G (p.Ala1101Gly) c.3257C>G (p.Ala1086Gly) c.3326C>G (p.Ala1109Gly) c.3311C>G (p.Ala1104Gly) c.3290C>G (p.Ala1097Gly) c.3284C>G (p.Ala1095Gly) c.3239C>G (p.Ala1080Gly) c.3230C>G (p.Ala1077Gly) c.3206C>G (p.Ala1069Gly) c.3200C>G (p.Ala1067Gly) c.3173C>G (p.Ala1058Gly) c.3167C>G (p.Ala1056Gly) c.3161C>G (p.Ala1054Gly) c.3122C>G (p.Ala1041Gly) c.3110C>G (p.Ala1037Gly) c.3053C>G (p.Ala1018Gly) c.3029C>G (p.Ala1010Gly) c.3023C>G (p.Ala1008Gly) c.3005C>G (p.Ala1002Gly) c.2951C>G (p.Ala984Gly) c.3117+341C>G (n.3117+341C>G) c.2258C>G (p.Ala753Gly) c.2171C>G (p.Ala724Gly) n.3447C>G | dbSNP |
17 | g.39727344C>T | CA399310288 | ERBB2 | c.3209C>T (p.Ala1070Val) c.3119C>T (p.Ala1040Val) c.2381C>T (p.Ala794Val) c.3164C>T (p.Ala1055Val) c.*2999C>T (n.*2999C>T) c.3159+341C>T (n.3159+341C>T) n.3533C>T c.3347C>T (p.Ala1116Val) c.3302C>T (p.Ala1101Val) c.3257C>T (p.Ala1086Val) c.3326C>T (p.Ala1109Val) c.3311C>T (p.Ala1104Val) c.3290C>T (p.Ala1097Val) c.3284C>T (p.Ala1095Val) c.3239C>T (p.Ala1080Val) c.3230C>T (p.Ala1077Val) c.3206C>T (p.Ala1069Val) c.3200C>T (p.Ala1067Val) c.3173C>T (p.Ala1058Val) c.3167C>T (p.Ala1056Val) c.3161C>T (p.Ala1054Val) c.3122C>T (p.Ala1041Val) c.3110C>T (p.Ala1037Val) c.3053C>T (p.Ala1018Val) c.3029C>T (p.Ala1010Val) c.3023C>T (p.Ala1008Val) c.3005C>T (p.Ala1002Val) c.2951C>T (p.Ala984Val) c.3117+341C>T (n.3117+341C>T) c.2258C>T (p.Ala753Val) c.2171C>T (p.Ala724Val) n.3447C>T | dbSNP COSMIC |
17 | g.39727348del | CA2637628479 | ERBB2 | c.3213del (p.Arg1072GlyfsTer?) c.3123del (p.Arg1042GlyfsTer?) c.2385del (p.Arg796GlyfsTer?) c.3168del (p.Arg1057GlyfsTer?) c.*3003del (n.*3003del) c.3160-341del (n.3160-341del) n.3537del c.3351del (p.Arg1118GlyfsTer?) c.3306del (p.Arg1103GlyfsTer?) c.3261del (p.Arg1088GlyfsTer?) c.3330del (p.Arg1111GlyfsTer?) c.3315del (p.Arg1106GlyfsTer?) c.3294del (p.Arg1099GlyfsTer?) c.3288del (p.Arg1097GlyfsTer?) c.3243del (p.Arg1082GlyfsTer?) c.3234del (p.Arg1079GlyfsTer?) c.3210del (p.Arg1071GlyfsTer?) c.3204del (p.Arg1069GlyfsTer?) c.3177del (p.Arg1060GlyfsTer?) c.3171del (p.Arg1058GlyfsTer?) c.3165del (p.Arg1056GlyfsTer?) c.3126del (p.Arg1043GlyfsTer?) c.3114del (p.Arg1039GlyfsTer?) c.3057del (p.Arg1020GlyfsTer?) c.3033del (p.Arg1012GlyfsTer?) c.3027del (p.Arg1010GlyfsTer?) c.3009del (p.Arg1004GlyfsTer?) c.2955del (p.Arg986GlyfsTer?) c.3118-341del (n.3118-341del) c.2262del (p.Arg755GlyfsTer?) c.2175del (p.Arg726GlyfsTer?) n.3451del | gnomAD v4 |
17 | g.39727345C>A | CA499671604 | ERBB2 | c.3210C>A (p.Ala1070=) c.3120C>A (p.Ala1040=) c.2382C>A (p.Ala794=) c.3165C>A (p.Ala1055=) c.*3000C>A (n.*3000C>A) c.3159+342C>A (n.3159+342C>A) n.3534C>A c.3348C>A (p.Ala1116=) c.3303C>A (p.Ala1101=) c.3258C>A (p.Ala1086=) c.3327C>A (p.Ala1109=) c.3312C>A (p.Ala1104=) c.3291C>A (p.Ala1097=) c.3285C>A (p.Ala1095=) c.3240C>A (p.Ala1080=) c.3231C>A (p.Ala1077=) c.3207C>A (p.Ala1069=) c.3201C>A (p.Ala1067=) c.3174C>A (p.Ala1058=) c.3168C>A (p.Ala1056=) c.3162C>A (p.Ala1054=) c.3123C>A (p.Ala1041=) c.3111C>A (p.Ala1037=) c.3054C>A (p.Ala1018=) c.3030C>A (p.Ala1010=) c.3024C>A (p.Ala1008=) c.3006C>A (p.Ala1002=) c.2952C>A (p.Ala984=) c.3117+342C>A (n.3117+342C>A) c.2259C>A (p.Ala753=) c.2172C>A (p.Ala724=) n.3448C>A | dbSNP gnomAD v4 |
17 | g.39727345C= | CA2259228692 | ERBB2 | c.3210C= (p.Ala1070=) c.3120C= (p.Ala1040=) c.2382C= (p.Ala794=) c.3165C= (p.Ala1055=) c.*3000C= (n.*3000C=) c.3159+342C= (n.3159+342C=) n.3534C= c.3348C= (p.Ala1116=) c.3303C= (p.Ala1101=) c.3258C= (p.Ala1086=) c.3327C= (p.Ala1109=) c.3312C= (p.Ala1104=) c.3291C= (p.Ala1097=) c.3285C= (p.Ala1095=) c.3240C= (p.Ala1080=) c.3231C= (p.Ala1077=) c.3207C= (p.Ala1069=) c.3201C= (p.Ala1067=) c.3174C= (p.Ala1058=) c.3168C= (p.Ala1056=) c.3162C= (p.Ala1054=) c.3123C= (p.Ala1041=) c.3111C= (p.Ala1037=) c.3054C= (p.Ala1018=) c.3030C= (p.Ala1010=) c.3024C= (p.Ala1008=) c.3006C= (p.Ala1002=) c.2952C= (p.Ala984=) c.3117+342C= (n.3117+342C=) c.2259C= (p.Ala753=) c.2172C= (p.Ala724=) n.3448C= | |
17 | g.39727345C>G | CA499671605 | ERBB2 | c.3210C>G (p.Ala1070=) c.3120C>G (p.Ala1040=) c.2382C>G (p.Ala794=) c.3165C>G (p.Ala1055=) c.*3000C>G (n.*3000C>G) c.3159+342C>G (n.3159+342C>G) n.3534C>G c.3348C>G (p.Ala1116=) c.3303C>G (p.Ala1101=) c.3258C>G (p.Ala1086=) c.3327C>G (p.Ala1109=) c.3312C>G (p.Ala1104=) c.3291C>G (p.Ala1097=) c.3285C>G (p.Ala1095=) c.3240C>G (p.Ala1080=) c.3231C>G (p.Ala1077=) c.3207C>G (p.Ala1069=) c.3201C>G (p.Ala1067=) c.3174C>G (p.Ala1058=) c.3168C>G (p.Ala1056=) c.3162C>G (p.Ala1054=) c.3123C>G (p.Ala1041=) c.3111C>G (p.Ala1037=) c.3054C>G (p.Ala1018=) c.3030C>G (p.Ala1010=) c.3024C>G (p.Ala1008=) c.3006C>G (p.Ala1002=) c.2952C>G (p.Ala984=) c.3117+342C>G (n.3117+342C>G) c.2259C>G (p.Ala753=) c.2172C>G (p.Ala724=) n.3448C>G | |
17 | g.39727345C>T | CA290443188 | ERBB2 | c.3210C>T (p.Ala1070=) c.3120C>T (p.Ala1040=) c.2382C>T (p.Ala794=) c.3165C>T (p.Ala1055=) c.*3000C>T (n.*3000C>T) c.3159+342C>T (n.3159+342C>T) n.3534C>T c.3348C>T (p.Ala1116=) c.3303C>T (p.Ala1101=) c.3258C>T (p.Ala1086=) c.3327C>T (p.Ala1109=) c.3312C>T (p.Ala1104=) c.3291C>T (p.Ala1097=) c.3285C>T (p.Ala1095=) c.3240C>T (p.Ala1080=) c.3231C>T (p.Ala1077=) c.3207C>T (p.Ala1069=) c.3201C>T (p.Ala1067=) c.3174C>T (p.Ala1058=) c.3168C>T (p.Ala1056=) c.3162C>T (p.Ala1054=) c.3123C>T (p.Ala1041=) c.3111C>T (p.Ala1037=) c.3054C>T (p.Ala1018=) c.3030C>T (p.Ala1010=) c.3024C>T (p.Ala1008=) c.3006C>T (p.Ala1002=) c.2952C>T (p.Ala984=) c.3117+342C>T (n.3117+342C>T) c.2259C>T (p.Ala753=) c.2172C>T (p.Ala724=) n.3448C>T | dbSNP |
17 | g.39727346C>A | CA399310290 | ERBB2 | c.3211C>A (p.Pro1071Thr) c.3121C>A (p.Pro1041Thr) c.2383C>A (p.Pro795Thr) c.3166C>A (p.Pro1056Thr) c.*3001C>A (n.*3001C>A) c.3160-343C>A (n.3160-343C>A) n.3535C>A c.3349C>A (p.Pro1117Thr) c.3304C>A (p.Pro1102Thr) c.3259C>A (p.Pro1087Thr) c.3328C>A (p.Pro1110Thr) c.3313C>A (p.Pro1105Thr) c.3292C>A (p.Pro1098Thr) c.3286C>A (p.Pro1096Thr) c.3241C>A (p.Pro1081Thr) c.3232C>A (p.Pro1078Thr) c.3208C>A (p.Pro1070Thr) c.3202C>A (p.Pro1068Thr) c.3175C>A (p.Pro1059Thr) c.3169C>A (p.Pro1057Thr) c.3163C>A (p.Pro1055Thr) c.3124C>A (p.Pro1042Thr) c.3112C>A (p.Pro1038Thr) c.3055C>A (p.Pro1019Thr) c.3031C>A (p.Pro1011Thr) c.3025C>A (p.Pro1009Thr) c.3007C>A (p.Pro1003Thr) c.2953C>A (p.Pro985Thr) c.3118-343C>A (n.3118-343C>A) c.2260C>A (p.Pro754Thr) c.2173C>A (p.Pro725Thr) n.3449C>A | dbSNP gnomAD v4 |
17 | g.39727346C= | CA2259228698 | ERBB2 | c.3211C= (p.Pro1071=) c.3121C= (p.Pro1041=) c.2383C= (p.Pro795=) c.3166C= (p.Pro1056=) c.*3001C= (n.*3001C=) c.3160-343C= (n.3160-343C=) n.3535C= c.3349C= (p.Pro1117=) c.3304C= (p.Pro1102=) c.3259C= (p.Pro1087=) c.3328C= (p.Pro1110=) c.3313C= (p.Pro1105=) c.3292C= (p.Pro1098=) c.3286C= (p.Pro1096=) c.3241C= (p.Pro1081=) c.3232C= (p.Pro1078=) c.3208C= (p.Pro1070=) c.3202C= (p.Pro1068=) c.3175C= (p.Pro1059=) c.3169C= (p.Pro1057=) c.3163C= (p.Pro1055=) c.3124C= (p.Pro1042=) c.3112C= (p.Pro1038=) c.3055C= (p.Pro1019=) c.3031C= (p.Pro1011=) c.3025C= (p.Pro1009=) c.3007C= (p.Pro1003=) c.2953C= (p.Pro985=) c.3118-343C= (n.3118-343C=) c.2260C= (p.Pro754=) c.2173C= (p.Pro725=) n.3449C= | |
17 | g.39727346C>G | CA399310294 | ERBB2 | c.3211C>G (p.Pro1071Ala) c.3121C>G (p.Pro1041Ala) c.2383C>G (p.Pro795Ala) c.3166C>G (p.Pro1056Ala) c.*3001C>G (n.*3001C>G) c.3160-343C>G (n.3160-343C>G) n.3535C>G c.3349C>G (p.Pro1117Ala) c.3304C>G (p.Pro1102Ala) c.3259C>G (p.Pro1087Ala) c.3328C>G (p.Pro1110Ala) c.3313C>G (p.Pro1105Ala) c.3292C>G (p.Pro1098Ala) c.3286C>G (p.Pro1096Ala) c.3241C>G (p.Pro1081Ala) c.3232C>G (p.Pro1078Ala) c.3208C>G (p.Pro1070Ala) c.3202C>G (p.Pro1068Ala) c.3175C>G (p.Pro1059Ala) c.3169C>G (p.Pro1057Ala) c.3163C>G (p.Pro1055Ala) c.3124C>G (p.Pro1042Ala) c.3112C>G (p.Pro1038Ala) c.3055C>G (p.Pro1019Ala) c.3031C>G (p.Pro1011Ala) c.3025C>G (p.Pro1009Ala) c.3007C>G (p.Pro1003Ala) c.2953C>G (p.Pro985Ala) c.3118-343C>G (n.3118-343C>G) c.2260C>G (p.Pro754Ala) c.2173C>G (p.Pro725Ala) n.3449C>G | |
17 | g.39727346C>T | CA399310291 | ERBB2 | c.3211C>T (p.Pro1071Ser) c.3121C>T (p.Pro1041Ser) c.2383C>T (p.Pro795Ser) c.3166C>T (p.Pro1056Ser) c.*3001C>T (n.*3001C>T) c.3160-343C>T (n.3160-343C>T) n.3535C>T c.3349C>T (p.Pro1117Ser) c.3304C>T (p.Pro1102Ser) c.3259C>T (p.Pro1087Ser) c.3328C>T (p.Pro1110Ser) c.3313C>T (p.Pro1105Ser) c.3292C>T (p.Pro1098Ser) c.3286C>T (p.Pro1096Ser) c.3241C>T (p.Pro1081Ser) c.3232C>T (p.Pro1078Ser) c.3208C>T (p.Pro1070Ser) c.3202C>T (p.Pro1068Ser) c.3175C>T (p.Pro1059Ser) c.3169C>T (p.Pro1057Ser) c.3163C>T (p.Pro1055Ser) c.3124C>T (p.Pro1042Ser) c.3112C>T (p.Pro1038Ser) c.3055C>T (p.Pro1019Ser) c.3031C>T (p.Pro1011Ser) c.3025C>T (p.Pro1009Ser) c.3007C>T (p.Pro1003Ser) c.2953C>T (p.Pro985Ser) c.3118-343C>T (n.3118-343C>T) c.2260C>T (p.Pro754Ser) c.2173C>T (p.Pro725Ser) n.3449C>T | |
17 | g.39727347C>A | CA399310299 | ERBB2 | c.3212C>A (p.Pro1071His) c.3122C>A (p.Pro1041His) c.2384C>A (p.Pro795His) c.3167C>A (p.Pro1056His) c.*3002C>A (n.*3002C>A) c.3160-342C>A (n.3160-342C>A) n.3536C>A c.3350C>A (p.Pro1117His) c.3305C>A (p.Pro1102His) c.3260C>A (p.Pro1087His) c.3329C>A (p.Pro1110His) c.3314C>A (p.Pro1105His) c.3293C>A (p.Pro1098His) c.3287C>A (p.Pro1096His) c.3242C>A (p.Pro1081His) c.3233C>A (p.Pro1078His) c.3209C>A (p.Pro1070His) c.3203C>A (p.Pro1068His) c.3176C>A (p.Pro1059His) c.3170C>A (p.Pro1057His) c.3164C>A (p.Pro1055His) c.3125C>A (p.Pro1042His) c.3113C>A (p.Pro1038His) c.3056C>A (p.Pro1019His) c.3032C>A (p.Pro1011His) c.3026C>A (p.Pro1009His) c.3008C>A (p.Pro1003His) c.2954C>A (p.Pro985His) c.3118-342C>A (n.3118-342C>A) c.2261C>A (p.Pro754His) c.2174C>A (p.Pro725His) n.3450C>A | dbSNP |
17 | g.39727347C>G | CA399310302 | ERBB2 | c.3212C>G (p.Pro1071Arg) c.3122C>G (p.Pro1041Arg) c.2384C>G (p.Pro795Arg) c.3167C>G (p.Pro1056Arg) c.*3002C>G (n.*3002C>G) c.3160-342C>G (n.3160-342C>G) n.3536C>G c.3350C>G (p.Pro1117Arg) c.3305C>G (p.Pro1102Arg) c.3260C>G (p.Pro1087Arg) c.3329C>G (p.Pro1110Arg) c.3314C>G (p.Pro1105Arg) c.3293C>G (p.Pro1098Arg) c.3287C>G (p.Pro1096Arg) c.3242C>G (p.Pro1081Arg) c.3233C>G (p.Pro1078Arg) c.3209C>G (p.Pro1070Arg) c.3203C>G (p.Pro1068Arg) c.3176C>G (p.Pro1059Arg) c.3170C>G (p.Pro1057Arg) c.3164C>G (p.Pro1055Arg) c.3125C>G (p.Pro1042Arg) c.3113C>G (p.Pro1038Arg) c.3056C>G (p.Pro1019Arg) c.3032C>G (p.Pro1011Arg) c.3026C>G (p.Pro1009Arg) c.3008C>G (p.Pro1003Arg) c.2954C>G (p.Pro985Arg) c.3118-342C>G (n.3118-342C>G) c.2261C>G (p.Pro754Arg) c.2174C>G (p.Pro725Arg) n.3450C>G | dbSNP |
17 | g.39727347C>T | CA399310304 | ERBB2 | c.3212C>T (p.Pro1071Leu) c.3122C>T (p.Pro1041Leu) c.2384C>T (p.Pro795Leu) c.3167C>T (p.Pro1056Leu) c.*3002C>T (n.*3002C>T) c.3160-342C>T (n.3160-342C>T) n.3536C>T c.3350C>T (p.Pro1117Leu) c.3305C>T (p.Pro1102Leu) c.3260C>T (p.Pro1087Leu) c.3329C>T (p.Pro1110Leu) c.3314C>T (p.Pro1105Leu) c.3293C>T (p.Pro1098Leu) c.3287C>T (p.Pro1096Leu) c.3242C>T (p.Pro1081Leu) c.3233C>T (p.Pro1078Leu) c.3209C>T (p.Pro1070Leu) c.3203C>T (p.Pro1068Leu) c.3176C>T (p.Pro1059Leu) c.3170C>T (p.Pro1057Leu) c.3164C>T (p.Pro1055Leu) c.3125C>T (p.Pro1042Leu) c.3113C>T (p.Pro1038Leu) c.3056C>T (p.Pro1019Leu) c.3032C>T (p.Pro1011Leu) c.3026C>T (p.Pro1009Leu) c.3008C>T (p.Pro1003Leu) c.2954C>T (p.Pro985Leu) c.3118-342C>T (n.3118-342C>T) c.2261C>T (p.Pro754Leu) c.2174C>T (p.Pro725Leu) n.3450C>T | dbSNP |
17 | g.39727347_39727349del | CA2576254902 | ERBB2 | c.3212_3214del (p.Pro1071del) c.3122_3124del (p.Pro1041del) c.2384_2386del (p.Pro795del) c.3167_3169del (p.Pro1056del) c.*3002_*3004del (n.*3002_*3004del) c.3160-342_3160-340del (n.3160-342_3160-340del) n.3536_3538del c.3350_3352del (p.Pro1117del) c.3305_3307del (p.Pro1102del) c.3260_3262del (p.Pro1087del) c.3329_3331del (p.Pro1110del) c.3314_3316del (p.Pro1105del) c.3293_3295del (p.Pro1098del) c.3287_3289del (p.Pro1096del) c.3242_3244del (p.Pro1081del) c.3233_3235del (p.Pro1078del) c.3209_3211del (p.Pro1070del) c.3203_3205del (p.Pro1068del) c.3176_3178del (p.Pro1059del) c.3170_3172del (p.Pro1057del) c.3164_3166del (p.Pro1055del) c.3125_3127del (p.Pro1042del) c.3113_3115del (p.Pro1038del) c.3056_3058del (p.Pro1019del) c.3032_3034del (p.Pro1011del) c.3026_3028del (p.Pro1009del) c.3008_3010del (p.Pro1003del) c.2954_2956del (p.Pro985del) c.3118-342_3118-340del (n.3118-342_3118-340del) c.2261_2263del (p.Pro754del) c.2174_2176del (p.Pro725del) n.3450_3452del | |
17 | g.39727348C>A | CA499671608 | ERBB2 | c.3213C>A (p.Pro1071=) c.3123C>A (p.Pro1041=) c.2385C>A (p.Pro795=) c.3168C>A (p.Pro1056=) c.*3003C>A (n.*3003C>A) c.3160-341C>A (n.3160-341C>A) n.3537C>A c.3351C>A (p.Pro1117=) c.3306C>A (p.Pro1102=) c.3261C>A (p.Pro1087=) c.3330C>A (p.Pro1110=) c.3315C>A (p.Pro1105=) c.3294C>A (p.Pro1098=) c.3288C>A (p.Pro1096=) c.3243C>A (p.Pro1081=) c.3234C>A (p.Pro1078=) c.3210C>A (p.Pro1070=) c.3204C>A (p.Pro1068=) c.3177C>A (p.Pro1059=) c.3171C>A (p.Pro1057=) c.3165C>A (p.Pro1055=) c.3126C>A (p.Pro1042=) c.3114C>A (p.Pro1038=) c.3057C>A (p.Pro1019=) c.3033C>A (p.Pro1011=) c.3027C>A (p.Pro1009=) c.3009C>A (p.Pro1003=) c.2955C>A (p.Pro985=) c.3118-341C>A (n.3118-341C>A) c.2262C>A (p.Pro754=) c.2175C>A (p.Pro725=) n.3451C>A | dbSNP |
17 | g.39727348C>G | CA499671607 | ERBB2 | c.3213C>G (p.Pro1071=) c.3123C>G (p.Pro1041=) c.2385C>G (p.Pro795=) c.3168C>G (p.Pro1056=) c.*3003C>G (n.*3003C>G) c.3160-341C>G (n.3160-341C>G) n.3537C>G c.3351C>G (p.Pro1117=) c.3306C>G (p.Pro1102=) c.3261C>G (p.Pro1087=) c.3330C>G (p.Pro1110=) c.3315C>G (p.Pro1105=) c.3294C>G (p.Pro1098=) c.3288C>G (p.Pro1096=) c.3243C>G (p.Pro1081=) c.3234C>G (p.Pro1078=) c.3210C>G (p.Pro1070=) c.3204C>G (p.Pro1068=) c.3177C>G (p.Pro1059=) c.3171C>G (p.Pro1057=) c.3165C>G (p.Pro1055=) c.3126C>G (p.Pro1042=) c.3114C>G (p.Pro1038=) c.3057C>G (p.Pro1019=) c.3033C>G (p.Pro1011=) c.3027C>G (p.Pro1009=) c.3009C>G (p.Pro1003=) c.2955C>G (p.Pro985=) c.3118-341C>G (n.3118-341C>G) c.2262C>G (p.Pro754=) c.2175C>G (p.Pro725=) n.3451C>G | dbSNP |
17 | g.39727348C>T | CA499671606 | ERBB2 | c.3213C>T (p.Pro1071=) c.3123C>T (p.Pro1041=) c.2385C>T (p.Pro795=) c.3168C>T (p.Pro1056=) c.*3003C>T (n.*3003C>T) c.3160-341C>T (n.3160-341C>T) n.3537C>T c.3351C>T (p.Pro1117=) c.3306C>T (p.Pro1102=) c.3261C>T (p.Pro1087=) c.3330C>T (p.Pro1110=) c.3315C>T (p.Pro1105=) c.3294C>T (p.Pro1098=) c.3288C>T (p.Pro1096=) c.3243C>T (p.Pro1081=) c.3234C>T (p.Pro1078=) c.3210C>T (p.Pro1070=) c.3204C>T (p.Pro1068=) c.3177C>T (p.Pro1059=) c.3171C>T (p.Pro1057=) c.3165C>T (p.Pro1055=) c.3126C>T (p.Pro1042=) c.3114C>T (p.Pro1038=) c.3057C>T (p.Pro1019=) c.3033C>T (p.Pro1011=) c.3027C>T (p.Pro1009=) c.3009C>T (p.Pro1003=) c.2955C>T (p.Pro985=) c.3118-341C>T (n.3118-341C>T) c.2262C>T (p.Pro754=) c.2175C>T (p.Pro725=) n.3451C>T | dbSNP gnomAD v4 |
17 | g.39727349A>C | CA499671609 | ERBB2 | c.3214A>C (p.Arg1072=) c.3124A>C (p.Arg1042=) c.2386A>C (p.Arg796=) c.3169A>C (p.Arg1057=) c.*3004A>C (n.*3004A>C) c.3160-340A>C (n.3160-340A>C) n.3538A>C c.3352A>C (p.Arg1118=) c.3307A>C (p.Arg1103=) c.3262A>C (p.Arg1088=) c.3331A>C (p.Arg1111=) c.3316A>C (p.Arg1106=) c.3295A>C (p.Arg1099=) c.3289A>C (p.Arg1097=) c.3244A>C (p.Arg1082=) c.3235A>C (p.Arg1079=) c.3211A>C (p.Arg1071=) c.3205A>C (p.Arg1069=) c.3178A>C (p.Arg1060=) c.3172A>C (p.Arg1058=) c.3166A>C (p.Arg1056=) c.3127A>C (p.Arg1043=) c.3115A>C (p.Arg1039=) c.3058A>C (p.Arg1020=) c.3034A>C (p.Arg1012=) c.3028A>C (p.Arg1010=) c.3010A>C (p.Arg1004=) c.2956A>C (p.Arg986=) c.3118-340A>C (n.3118-340A>C) c.2263A>C (p.Arg755=) c.2176A>C (p.Arg726=) n.3452A>C | |
17 | g.39727349A>G | CA399310309 | ERBB2 | c.3214A>G (p.Arg1072Gly) c.3124A>G (p.Arg1042Gly) c.2386A>G (p.Arg796Gly) c.3169A>G (p.Arg1057Gly) c.*3004A>G (n.*3004A>G) c.3160-340A>G (n.3160-340A>G) n.3538A>G c.3352A>G (p.Arg1118Gly) c.3307A>G (p.Arg1103Gly) c.3262A>G (p.Arg1088Gly) c.3331A>G (p.Arg1111Gly) c.3316A>G (p.Arg1106Gly) c.3295A>G (p.Arg1099Gly) c.3289A>G (p.Arg1097Gly) c.3244A>G (p.Arg1082Gly) c.3235A>G (p.Arg1079Gly) c.3211A>G (p.Arg1071Gly) c.3205A>G (p.Arg1069Gly) c.3178A>G (p.Arg1060Gly) c.3172A>G (p.Arg1058Gly) c.3166A>G (p.Arg1056Gly) c.3127A>G (p.Arg1043Gly) c.3115A>G (p.Arg1039Gly) c.3058A>G (p.Arg1020Gly) c.3034A>G (p.Arg1012Gly) c.3028A>G (p.Arg1010Gly) c.3010A>G (p.Arg1004Gly) c.2956A>G (p.Arg986Gly) c.3118-340A>G (n.3118-340A>G) c.2263A>G (p.Arg755Gly) c.2176A>G (p.Arg726Gly) n.3452A>G | dbSNP |
17 | g.39727349A>T | CA399310311 | ERBB2 | c.3214A>T (p.Arg1072Trp) c.3124A>T (p.Arg1042Trp) c.2386A>T (p.Arg796Trp) c.3169A>T (p.Arg1057Trp) c.*3004A>T (n.*3004A>T) c.3160-340A>T (n.3160-340A>T) n.3538A>T c.3352A>T (p.Arg1118Trp) c.3307A>T (p.Arg1103Trp) c.3262A>T (p.Arg1088Trp) c.3331A>T (p.Arg1111Trp) c.3316A>T (p.Arg1106Trp) c.3295A>T (p.Arg1099Trp) c.3289A>T (p.Arg1097Trp) c.3244A>T (p.Arg1082Trp) c.3235A>T (p.Arg1079Trp) c.3211A>T (p.Arg1071Trp) c.3205A>T (p.Arg1069Trp) c.3178A>T (p.Arg1060Trp) c.3172A>T (p.Arg1058Trp) c.3166A>T (p.Arg1056Trp) c.3127A>T (p.Arg1043Trp) c.3115A>T (p.Arg1039Trp) c.3058A>T (p.Arg1020Trp) c.3034A>T (p.Arg1012Trp) c.3028A>T (p.Arg1010Trp) c.3010A>T (p.Arg1004Trp) c.2956A>T (p.Arg986Trp) c.3118-340A>T (n.3118-340A>T) c.2263A>T (p.Arg755Trp) c.2176A>T (p.Arg726Trp) n.3452A>T | dbSNP |
17 | g.39727350G>A | CA399310314 | ERBB2 | c.3215G>A (p.Arg1072Lys) c.3125G>A (p.Arg1042Lys) c.2387G>A (p.Arg796Lys) c.3170G>A (p.Arg1057Lys) c.*3005G>A (n.*3005G>A) c.3160-339G>A (n.3160-339G>A) n.3539G>A c.3353G>A (p.Arg1118Lys) c.3308G>A (p.Arg1103Lys) c.3263G>A (p.Arg1088Lys) c.3332G>A (p.Arg1111Lys) c.3317G>A (p.Arg1106Lys) c.3296G>A (p.Arg1099Lys) c.3290G>A (p.Arg1097Lys) c.3245G>A (p.Arg1082Lys) c.3236G>A (p.Arg1079Lys) c.3212G>A (p.Arg1071Lys) c.3206G>A (p.Arg1069Lys) c.3179G>A (p.Arg1060Lys) c.3173G>A (p.Arg1058Lys) c.3167G>A (p.Arg1056Lys) c.3128G>A (p.Arg1043Lys) c.3116G>A (p.Arg1039Lys) c.3059G>A (p.Arg1020Lys) c.3035G>A (p.Arg1012Lys) c.3029G>A (p.Arg1010Lys) c.3011G>A (p.Arg1004Lys) c.2957G>A (p.Arg986Lys) c.3118-339G>A (n.3118-339G>A) c.2264G>A (p.Arg755Lys) c.2177G>A (p.Arg726Lys) n.3453G>A | dbSNP |
17 | g.39727350G>C | CA399310316 | ERBB2 | c.3215G>C (p.Arg1072Thr) c.3125G>C (p.Arg1042Thr) c.2387G>C (p.Arg796Thr) c.3170G>C (p.Arg1057Thr) c.*3005G>C (n.*3005G>C) c.3160-339G>C (n.3160-339G>C) n.3539G>C c.3353G>C (p.Arg1118Thr) c.3308G>C (p.Arg1103Thr) c.3263G>C (p.Arg1088Thr) c.3332G>C (p.Arg1111Thr) c.3317G>C (p.Arg1106Thr) c.3296G>C (p.Arg1099Thr) c.3290G>C (p.Arg1097Thr) c.3245G>C (p.Arg1082Thr) c.3236G>C (p.Arg1079Thr) c.3212G>C (p.Arg1071Thr) c.3206G>C (p.Arg1069Thr) c.3179G>C (p.Arg1060Thr) c.3173G>C (p.Arg1058Thr) c.3167G>C (p.Arg1056Thr) c.3128G>C (p.Arg1043Thr) c.3116G>C (p.Arg1039Thr) c.3059G>C (p.Arg1020Thr) c.3035G>C (p.Arg1012Thr) c.3029G>C (p.Arg1010Thr) c.3011G>C (p.Arg1004Thr) c.2957G>C (p.Arg986Thr) c.3118-339G>C (n.3118-339G>C) c.2264G>C (p.Arg755Thr) c.2177G>C (p.Arg726Thr) n.3453G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727350G= | CA2259228700 | ERBB2 | c.3215G= (p.Arg1072=) c.3125G= (p.Arg1042=) c.2387G= (p.Arg796=) c.3170G= (p.Arg1057=) c.*3005G= (n.*3005G=) c.3160-339G= (n.3160-339G=) n.3539G= c.3353G= (p.Arg1118=) c.3308G= (p.Arg1103=) c.3263G= (p.Arg1088=) c.3332G= (p.Arg1111=) c.3317G= (p.Arg1106=) c.3296G= (p.Arg1099=) c.3290G= (p.Arg1097=) c.3245G= (p.Arg1082=) c.3236G= (p.Arg1079=) c.3212G= (p.Arg1071=) c.3206G= (p.Arg1069=) c.3179G= (p.Arg1060=) c.3173G= (p.Arg1058=) c.3167G= (p.Arg1056=) c.3128G= (p.Arg1043=) c.3116G= (p.Arg1039=) c.3059G= (p.Arg1020=) c.3035G= (p.Arg1012=) c.3029G= (p.Arg1010=) c.3011G= (p.Arg1004=) c.2957G= (p.Arg986=) c.3118-339G= (n.3118-339G=) c.2264G= (p.Arg755=) c.2177G= (p.Arg726=) n.3453G= | |
17 | g.39727350G>T | CA399310319 | ERBB2 | c.3215G>T (p.Arg1072Met) c.3125G>T (p.Arg1042Met) c.2387G>T (p.Arg796Met) c.3170G>T (p.Arg1057Met) c.*3005G>T (n.*3005G>T) c.3160-339G>T (n.3160-339G>T) n.3539G>T c.3353G>T (p.Arg1118Met) c.3308G>T (p.Arg1103Met) c.3263G>T (p.Arg1088Met) c.3332G>T (p.Arg1111Met) c.3317G>T (p.Arg1106Met) c.3296G>T (p.Arg1099Met) c.3290G>T (p.Arg1097Met) c.3245G>T (p.Arg1082Met) c.3236G>T (p.Arg1079Met) c.3212G>T (p.Arg1071Met) c.3206G>T (p.Arg1069Met) c.3179G>T (p.Arg1060Met) c.3173G>T (p.Arg1058Met) c.3167G>T (p.Arg1056Met) c.3128G>T (p.Arg1043Met) c.3116G>T (p.Arg1039Met) c.3059G>T (p.Arg1020Met) c.3035G>T (p.Arg1012Met) c.3029G>T (p.Arg1010Met) c.3011G>T (p.Arg1004Met) c.2957G>T (p.Arg986Met) c.3118-339G>T (n.3118-339G>T) c.2264G>T (p.Arg755Met) c.2177G>T (p.Arg726Met) n.3453G>T | dbSNP |
17 | g.39727351G>A | CA499671610 | ERBB2 | c.3216G>A (p.Arg1072=) c.3126G>A (p.Arg1042=) c.2388G>A (p.Arg796=) c.3171G>A (p.Arg1057=) c.*3006G>A (n.*3006G>A) c.3160-338G>A (n.3160-338G>A) n.3540G>A c.3354G>A (p.Arg1118=) c.3309G>A (p.Arg1103=) c.3264G>A (p.Arg1088=) c.3333G>A (p.Arg1111=) c.3318G>A (p.Arg1106=) c.3297G>A (p.Arg1099=) c.3291G>A (p.Arg1097=) c.3246G>A (p.Arg1082=) c.3237G>A (p.Arg1079=) c.3213G>A (p.Arg1071=) c.3207G>A (p.Arg1069=) c.3180G>A (p.Arg1060=) c.3174G>A (p.Arg1058=) c.3168G>A (p.Arg1056=) c.3129G>A (p.Arg1043=) c.3117G>A (p.Arg1039=) c.3060G>A (p.Arg1020=) c.3036G>A (p.Arg1012=) c.3030G>A (p.Arg1010=) c.3012G>A (p.Arg1004=) c.2958G>A (p.Arg986=) c.3118-338G>A (n.3118-338G>A) c.2265G>A (p.Arg755=) c.2178G>A (p.Arg726=) n.3454G>A | dbSNP |
17 | g.39727351G>C | CA399310322 | ERBB2 | c.3216G>C (p.Arg1072Ser) c.3126G>C (p.Arg1042Ser) c.2388G>C (p.Arg796Ser) c.3171G>C (p.Arg1057Ser) c.*3006G>C (n.*3006G>C) c.3160-338G>C (n.3160-338G>C) n.3540G>C c.3354G>C (p.Arg1118Ser) c.3309G>C (p.Arg1103Ser) c.3264G>C (p.Arg1088Ser) c.3333G>C (p.Arg1111Ser) c.3318G>C (p.Arg1106Ser) c.3297G>C (p.Arg1099Ser) c.3291G>C (p.Arg1097Ser) c.3246G>C (p.Arg1082Ser) c.3237G>C (p.Arg1079Ser) c.3213G>C (p.Arg1071Ser) c.3207G>C (p.Arg1069Ser) c.3180G>C (p.Arg1060Ser) c.3174G>C (p.Arg1058Ser) c.3168G>C (p.Arg1056Ser) c.3129G>C (p.Arg1043Ser) c.3117G>C (p.Arg1039Ser) c.3060G>C (p.Arg1020Ser) c.3036G>C (p.Arg1012Ser) c.3030G>C (p.Arg1010Ser) c.3012G>C (p.Arg1004Ser) c.2958G>C (p.Arg986Ser) c.3118-338G>C (n.3118-338G>C) c.2265G>C (p.Arg755Ser) c.2178G>C (p.Arg726Ser) n.3454G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727351G= | CA2259228704 | ERBB2 | c.3216G= (p.Arg1072=) c.3126G= (p.Arg1042=) c.2388G= (p.Arg796=) c.3171G= (p.Arg1057=) c.*3006G= (n.*3006G=) c.3160-338G= (n.3160-338G=) n.3540G= c.3354G= (p.Arg1118=) c.3309G= (p.Arg1103=) c.3264G= (p.Arg1088=) c.3333G= (p.Arg1111=) c.3318G= (p.Arg1106=) c.3297G= (p.Arg1099=) c.3291G= (p.Arg1097=) c.3246G= (p.Arg1082=) c.3237G= (p.Arg1079=) c.3213G= (p.Arg1071=) c.3207G= (p.Arg1069=) c.3180G= (p.Arg1060=) c.3174G= (p.Arg1058=) c.3168G= (p.Arg1056=) c.3129G= (p.Arg1043=) c.3117G= (p.Arg1039=) c.3060G= (p.Arg1020=) c.3036G= (p.Arg1012=) c.3030G= (p.Arg1010=) c.3012G= (p.Arg1004=) c.2958G= (p.Arg986=) c.3118-338G= (n.3118-338G=) c.2265G= (p.Arg755=) c.2178G= (p.Arg726=) n.3454G= | |
17 | g.39727351G>T | CA290443193 | ERBB2 | c.3216G>T (p.Arg1072Ser) c.3126G>T (p.Arg1042Ser) c.2388G>T (p.Arg796Ser) c.3171G>T (p.Arg1057Ser) c.*3006G>T (n.*3006G>T) c.3160-338G>T (n.3160-338G>T) n.3540G>T c.3354G>T (p.Arg1118Ser) c.3309G>T (p.Arg1103Ser) c.3264G>T (p.Arg1088Ser) c.3333G>T (p.Arg1111Ser) c.3318G>T (p.Arg1106Ser) c.3297G>T (p.Arg1099Ser) c.3291G>T (p.Arg1097Ser) c.3246G>T (p.Arg1082Ser) c.3237G>T (p.Arg1079Ser) c.3213G>T (p.Arg1071Ser) c.3207G>T (p.Arg1069Ser) c.3180G>T (p.Arg1060Ser) c.3174G>T (p.Arg1058Ser) c.3168G>T (p.Arg1056Ser) c.3129G>T (p.Arg1043Ser) c.3117G>T (p.Arg1039Ser) c.3060G>T (p.Arg1020Ser) c.3036G>T (p.Arg1012Ser) c.3030G>T (p.Arg1010Ser) c.3012G>T (p.Arg1004Ser) c.2958G>T (p.Arg986Ser) c.3118-338G>T (n.3118-338G>T) c.2265G>T (p.Arg755Ser) c.2178G>T (p.Arg726Ser) n.3454G>T | dbSNP |
17 | g.39727352T>A | CA399310334 | ERBB2 | c.3217T>A (p.Ser1073Thr) c.3127T>A (p.Ser1043Thr) c.2389T>A (p.Ser797Thr) c.3172T>A (p.Ser1058Thr) c.*3007T>A (n.*3007T>A) c.3160-337T>A (n.3160-337T>A) n.3541T>A c.3355T>A (p.Ser1119Thr) c.3310T>A (p.Ser1104Thr) c.3265T>A (p.Ser1089Thr) c.3334T>A (p.Ser1112Thr) c.3319T>A (p.Ser1107Thr) c.3298T>A (p.Ser1100Thr) c.3292T>A (p.Ser1098Thr) c.3247T>A (p.Ser1083Thr) c.3238T>A (p.Ser1080Thr) c.3214T>A (p.Ser1072Thr) c.3208T>A (p.Ser1070Thr) c.3181T>A (p.Ser1061Thr) c.3175T>A (p.Ser1059Thr) c.3169T>A (p.Ser1057Thr) c.3130T>A (p.Ser1044Thr) c.3118T>A (p.Ser1040Thr) c.3061T>A (p.Ser1021Thr) c.3037T>A (p.Ser1013Thr) c.3031T>A (p.Ser1011Thr) c.3013T>A (p.Ser1005Thr) c.2959T>A (p.Ser987Thr) c.3118-337T>A (n.3118-337T>A) c.2266T>A (p.Ser756Thr) c.2179T>A (p.Ser727Thr) n.3455T>A | dbSNP |
17 | g.39727352T>C | CA399310331 | ERBB2 | c.3217T>C (p.Ser1073Pro) c.3127T>C (p.Ser1043Pro) c.2389T>C (p.Ser797Pro) c.3172T>C (p.Ser1058Pro) c.*3007T>C (n.*3007T>C) c.3160-337T>C (n.3160-337T>C) n.3541T>C c.3355T>C (p.Ser1119Pro) c.3310T>C (p.Ser1104Pro) c.3265T>C (p.Ser1089Pro) c.3334T>C (p.Ser1112Pro) c.3319T>C (p.Ser1107Pro) c.3298T>C (p.Ser1100Pro) c.3292T>C (p.Ser1098Pro) c.3247T>C (p.Ser1083Pro) c.3238T>C (p.Ser1080Pro) c.3214T>C (p.Ser1072Pro) c.3208T>C (p.Ser1070Pro) c.3181T>C (p.Ser1061Pro) c.3175T>C (p.Ser1059Pro) c.3169T>C (p.Ser1057Pro) c.3130T>C (p.Ser1044Pro) c.3118T>C (p.Ser1040Pro) c.3061T>C (p.Ser1021Pro) c.3037T>C (p.Ser1013Pro) c.3031T>C (p.Ser1011Pro) c.3013T>C (p.Ser1005Pro) c.2959T>C (p.Ser987Pro) c.3118-337T>C (n.3118-337T>C) c.2266T>C (p.Ser756Pro) c.2179T>C (p.Ser727Pro) n.3455T>C | dbSNP |
17 | g.39727352T>G | CA399310328 | ERBB2 | c.3217T>G (p.Ser1073Ala) c.3127T>G (p.Ser1043Ala) c.2389T>G (p.Ser797Ala) c.3172T>G (p.Ser1058Ala) c.*3007T>G (n.*3007T>G) c.3160-337T>G (n.3160-337T>G) n.3541T>G c.3355T>G (p.Ser1119Ala) c.3310T>G (p.Ser1104Ala) c.3265T>G (p.Ser1089Ala) c.3334T>G (p.Ser1112Ala) c.3319T>G (p.Ser1107Ala) c.3298T>G (p.Ser1100Ala) c.3292T>G (p.Ser1098Ala) c.3247T>G (p.Ser1083Ala) c.3238T>G (p.Ser1080Ala) c.3214T>G (p.Ser1072Ala) c.3208T>G (p.Ser1070Ala) c.3181T>G (p.Ser1061Ala) c.3175T>G (p.Ser1059Ala) c.3169T>G (p.Ser1057Ala) c.3130T>G (p.Ser1044Ala) c.3118T>G (p.Ser1040Ala) c.3061T>G (p.Ser1021Ala) c.3037T>G (p.Ser1013Ala) c.3031T>G (p.Ser1011Ala) c.3013T>G (p.Ser1005Ala) c.2959T>G (p.Ser987Ala) c.3118-337T>G (n.3118-337T>G) c.2266T>G (p.Ser756Ala) c.2179T>G (p.Ser727Ala) n.3455T>G | dbSNP |
17 | g.39727353C>A | CA399310338 | ERBB2 | c.3218C>A (p.Ser1073Tyr) c.3128C>A (p.Ser1043Tyr) c.2390C>A (p.Ser797Tyr) c.3173C>A (p.Ser1058Tyr) c.*3008C>A (n.*3008C>A) c.3160-336C>A (n.3160-336C>A) n.3542C>A c.3356C>A (p.Ser1119Tyr) c.3311C>A (p.Ser1104Tyr) c.3266C>A (p.Ser1089Tyr) c.3335C>A (p.Ser1112Tyr) c.3320C>A (p.Ser1107Tyr) c.3299C>A (p.Ser1100Tyr) c.3293C>A (p.Ser1098Tyr) c.3248C>A (p.Ser1083Tyr) c.3239C>A (p.Ser1080Tyr) c.3215C>A (p.Ser1072Tyr) c.3209C>A (p.Ser1070Tyr) c.3182C>A (p.Ser1061Tyr) c.3176C>A (p.Ser1059Tyr) c.3170C>A (p.Ser1057Tyr) c.3131C>A (p.Ser1044Tyr) c.3119C>A (p.Ser1040Tyr) c.3062C>A (p.Ser1021Tyr) c.3038C>A (p.Ser1013Tyr) c.3032C>A (p.Ser1011Tyr) c.3014C>A (p.Ser1005Tyr) c.2960C>A (p.Ser987Tyr) c.3118-336C>A (n.3118-336C>A) c.2267C>A (p.Ser756Tyr) c.2180C>A (p.Ser727Tyr) n.3456C>A | |
17 | g.39727353C= | CA2259228707 | ERBB2 | c.3218C= (p.Ser1073=) c.3128C= (p.Ser1043=) c.2390C= (p.Ser797=) c.3173C= (p.Ser1058=) c.*3008C= (n.*3008C=) c.3160-336C= (n.3160-336C=) n.3542C= c.3356C= (p.Ser1119=) c.3311C= (p.Ser1104=) c.3266C= (p.Ser1089=) c.3335C= (p.Ser1112=) c.3320C= (p.Ser1107=) c.3299C= (p.Ser1100=) c.3293C= (p.Ser1098=) c.3248C= (p.Ser1083=) c.3239C= (p.Ser1080=) c.3215C= (p.Ser1072=) c.3209C= (p.Ser1070=) c.3182C= (p.Ser1061=) c.3176C= (p.Ser1059=) c.3170C= (p.Ser1057=) c.3131C= (p.Ser1044=) c.3119C= (p.Ser1040=) c.3062C= (p.Ser1021=) c.3038C= (p.Ser1013=) c.3032C= (p.Ser1011=) c.3014C= (p.Ser1005=) c.2960C= (p.Ser987=) c.3118-336C= (n.3118-336C=) c.2267C= (p.Ser756=) c.2180C= (p.Ser727=) n.3456C= | |
17 | g.39727353C>G | CA8534504 | ERBB2 | c.3218C>G (p.Ser1073Cys) c.3128C>G (p.Ser1043Cys) c.2390C>G (p.Ser797Cys) c.3173C>G (p.Ser1058Cys) c.*3008C>G (n.*3008C>G) c.3160-336C>G (n.3160-336C>G) n.3542C>G c.3356C>G (p.Ser1119Cys) c.3311C>G (p.Ser1104Cys) c.3266C>G (p.Ser1089Cys) c.3335C>G (p.Ser1112Cys) c.3320C>G (p.Ser1107Cys) c.3299C>G (p.Ser1100Cys) c.3293C>G (p.Ser1098Cys) c.3248C>G (p.Ser1083Cys) c.3239C>G (p.Ser1080Cys) c.3215C>G (p.Ser1072Cys) c.3209C>G (p.Ser1070Cys) c.3182C>G (p.Ser1061Cys) c.3176C>G (p.Ser1059Cys) c.3170C>G (p.Ser1057Cys) c.3131C>G (p.Ser1044Cys) c.3119C>G (p.Ser1040Cys) c.3062C>G (p.Ser1021Cys) c.3038C>G (p.Ser1013Cys) c.3032C>G (p.Ser1011Cys) c.3014C>G (p.Ser1005Cys) c.2960C>G (p.Ser987Cys) c.3118-336C>G (n.3118-336C>G) c.2267C>G (p.Ser756Cys) c.2180C>G (p.Ser727Cys) n.3456C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727353C>T | CA399310342 | ERBB2 | c.3218C>T (p.Ser1073Phe) c.3128C>T (p.Ser1043Phe) c.2390C>T (p.Ser797Phe) c.3173C>T (p.Ser1058Phe) c.*3008C>T (n.*3008C>T) c.3160-336C>T (n.3160-336C>T) n.3542C>T c.3356C>T (p.Ser1119Phe) c.3311C>T (p.Ser1104Phe) c.3266C>T (p.Ser1089Phe) c.3335C>T (p.Ser1112Phe) c.3320C>T (p.Ser1107Phe) c.3299C>T (p.Ser1100Phe) c.3293C>T (p.Ser1098Phe) c.3248C>T (p.Ser1083Phe) c.3239C>T (p.Ser1080Phe) c.3215C>T (p.Ser1072Phe) c.3209C>T (p.Ser1070Phe) c.3182C>T (p.Ser1061Phe) c.3176C>T (p.Ser1059Phe) c.3170C>T (p.Ser1057Phe) c.3131C>T (p.Ser1044Phe) c.3119C>T (p.Ser1040Phe) c.3062C>T (p.Ser1021Phe) c.3038C>T (p.Ser1013Phe) c.3032C>T (p.Ser1011Phe) c.3014C>T (p.Ser1005Phe) c.2960C>T (p.Ser987Phe) c.3118-336C>T (n.3118-336C>T) c.2267C>T (p.Ser756Phe) c.2180C>T (p.Ser727Phe) n.3456C>T | dbSNP |
17 | g.39727354T>A | CA499671612 | ERBB2 | c.3219T>A (p.Ser1073=) c.3129T>A (p.Ser1043=) c.2391T>A (p.Ser797=) c.3174T>A (p.Ser1058=) c.*3009T>A (n.*3009T>A) c.3160-335T>A (n.3160-335T>A) n.3543T>A c.3357T>A (p.Ser1119=) c.3312T>A (p.Ser1104=) c.3267T>A (p.Ser1089=) c.3336T>A (p.Ser1112=) c.3321T>A (p.Ser1107=) c.3300T>A (p.Ser1100=) c.3294T>A (p.Ser1098=) c.3249T>A (p.Ser1083=) c.3240T>A (p.Ser1080=) c.3216T>A (p.Ser1072=) c.3210T>A (p.Ser1070=) c.3183T>A (p.Ser1061=) c.3177T>A (p.Ser1059=) c.3171T>A (p.Ser1057=) c.3132T>A (p.Ser1044=) c.3120T>A (p.Ser1040=) c.3063T>A (p.Ser1021=) c.3039T>A (p.Ser1013=) c.3033T>A (p.Ser1011=) c.3015T>A (p.Ser1005=) c.2961T>A (p.Ser987=) c.3118-335T>A (n.3118-335T>A) c.2268T>A (p.Ser756=) c.2181T>A (p.Ser727=) n.3457T>A | |
17 | g.39727354T>C | CA499671613 | ERBB2 | c.3219T>C (p.Ser1073=) c.3129T>C (p.Ser1043=) c.2391T>C (p.Ser797=) c.3174T>C (p.Ser1058=) c.*3009T>C (n.*3009T>C) c.3160-335T>C (n.3160-335T>C) n.3543T>C c.3357T>C (p.Ser1119=) c.3312T>C (p.Ser1104=) c.3267T>C (p.Ser1089=) c.3336T>C (p.Ser1112=) c.3321T>C (p.Ser1107=) c.3300T>C (p.Ser1100=) c.3294T>C (p.Ser1098=) c.3249T>C (p.Ser1083=) c.3240T>C (p.Ser1080=) c.3216T>C (p.Ser1072=) c.3210T>C (p.Ser1070=) c.3183T>C (p.Ser1061=) c.3177T>C (p.Ser1059=) c.3171T>C (p.Ser1057=) c.3132T>C (p.Ser1044=) c.3120T>C (p.Ser1040=) c.3063T>C (p.Ser1021=) c.3039T>C (p.Ser1013=) c.3033T>C (p.Ser1011=) c.3015T>C (p.Ser1005=) c.2961T>C (p.Ser987=) c.3118-335T>C (n.3118-335T>C) c.2268T>C (p.Ser756=) c.2181T>C (p.Ser727=) n.3457T>C | gnomAD v4 |
17 | g.39727354T>G | CA499671611 | ERBB2 | c.3219T>G (p.Ser1073=) c.3129T>G (p.Ser1043=) c.2391T>G (p.Ser797=) c.3174T>G (p.Ser1058=) c.*3009T>G (n.*3009T>G) c.3160-335T>G (n.3160-335T>G) n.3543T>G c.3357T>G (p.Ser1119=) c.3312T>G (p.Ser1104=) c.3267T>G (p.Ser1089=) c.3336T>G (p.Ser1112=) c.3321T>G (p.Ser1107=) c.3300T>G (p.Ser1100=) c.3294T>G (p.Ser1098=) c.3249T>G (p.Ser1083=) c.3240T>G (p.Ser1080=) c.3216T>G (p.Ser1072=) c.3210T>G (p.Ser1070=) c.3183T>G (p.Ser1061=) c.3177T>G (p.Ser1059=) c.3171T>G (p.Ser1057=) c.3132T>G (p.Ser1044=) c.3120T>G (p.Ser1040=) c.3063T>G (p.Ser1021=) c.3039T>G (p.Ser1013=) c.3033T>G (p.Ser1011=) c.3015T>G (p.Ser1005=) c.2961T>G (p.Ser987=) c.3118-335T>G (n.3118-335T>G) c.2268T>G (p.Ser756=) c.2181T>G (p.Ser727=) n.3457T>G | |
17 | g.39727355C>A | CA399310346 | ERBB2 | c.3220C>A (p.Pro1074Thr) c.3130C>A (p.Pro1044Thr) c.2392C>A (p.Pro798Thr) c.3175C>A (p.Pro1059Thr) c.*3010C>A (n.*3010C>A) c.3160-334C>A (n.3160-334C>A) n.3544C>A c.3358C>A (p.Pro1120Thr) c.3313C>A (p.Pro1105Thr) c.3268C>A (p.Pro1090Thr) c.3337C>A (p.Pro1113Thr) c.3322C>A (p.Pro1108Thr) c.3301C>A (p.Pro1101Thr) c.3295C>A (p.Pro1099Thr) c.3250C>A (p.Pro1084Thr) c.3241C>A (p.Pro1081Thr) c.3217C>A (p.Pro1073Thr) c.3211C>A (p.Pro1071Thr) c.3184C>A (p.Pro1062Thr) c.3178C>A (p.Pro1060Thr) c.3172C>A (p.Pro1058Thr) c.3133C>A (p.Pro1045Thr) c.3121C>A (p.Pro1041Thr) c.3064C>A (p.Pro1022Thr) c.3040C>A (p.Pro1014Thr) c.3034C>A (p.Pro1012Thr) c.3016C>A (p.Pro1006Thr) c.2962C>A (p.Pro988Thr) c.3118-334C>A (n.3118-334C>A) c.2269C>A (p.Pro757Thr) c.2182C>A (p.Pro728Thr) n.3458C>A | |
17 | g.39727355C= | CA2259228712 | ERBB2 | c.3220C= (p.Pro1074=) c.3130C= (p.Pro1044=) c.2392C= (p.Pro798=) c.3175C= (p.Pro1059=) c.*3010C= (n.*3010C=) c.3160-334C= (n.3160-334C=) n.3544C= c.3358C= (p.Pro1120=) c.3313C= (p.Pro1105=) c.3268C= (p.Pro1090=) c.3337C= (p.Pro1113=) c.3322C= (p.Pro1108=) c.3301C= (p.Pro1101=) c.3295C= (p.Pro1099=) c.3250C= (p.Pro1084=) c.3241C= (p.Pro1081=) c.3217C= (p.Pro1073=) c.3211C= (p.Pro1071=) c.3184C= (p.Pro1062=) c.3178C= (p.Pro1060=) c.3172C= (p.Pro1058=) c.3133C= (p.Pro1045=) c.3121C= (p.Pro1041=) c.3064C= (p.Pro1022=) c.3040C= (p.Pro1014=) c.3034C= (p.Pro1012=) c.3016C= (p.Pro1006=) c.2962C= (p.Pro988=) c.3118-334C= (n.3118-334C=) c.2269C= (p.Pro757=) c.2182C= (p.Pro728=) n.3458C= | |
17 | g.39727355C>G | CA399310348 | ERBB2 | c.3220C>G (p.Pro1074Ala) c.3130C>G (p.Pro1044Ala) c.2392C>G (p.Pro798Ala) c.3175C>G (p.Pro1059Ala) c.*3010C>G (n.*3010C>G) c.3160-334C>G (n.3160-334C>G) n.3544C>G c.3358C>G (p.Pro1120Ala) c.3313C>G (p.Pro1105Ala) c.3268C>G (p.Pro1090Ala) c.3337C>G (p.Pro1113Ala) c.3322C>G (p.Pro1108Ala) c.3301C>G (p.Pro1101Ala) c.3295C>G (p.Pro1099Ala) c.3250C>G (p.Pro1084Ala) c.3241C>G (p.Pro1081Ala) c.3217C>G (p.Pro1073Ala) c.3211C>G (p.Pro1071Ala) c.3184C>G (p.Pro1062Ala) c.3178C>G (p.Pro1060Ala) c.3172C>G (p.Pro1058Ala) c.3133C>G (p.Pro1045Ala) c.3121C>G (p.Pro1041Ala) c.3064C>G (p.Pro1022Ala) c.3040C>G (p.Pro1014Ala) c.3034C>G (p.Pro1012Ala) c.3016C>G (p.Pro1006Ala) c.2962C>G (p.Pro988Ala) c.3118-334C>G (n.3118-334C>G) c.2269C>G (p.Pro757Ala) c.2182C>G (p.Pro728Ala) n.3458C>G | |
17 | g.39727355C>T | CA399310351 | ERBB2 | c.3220C>T (p.Pro1074Ser) c.3130C>T (p.Pro1044Ser) c.2392C>T (p.Pro798Ser) c.3175C>T (p.Pro1059Ser) c.*3010C>T (n.*3010C>T) c.3160-334C>T (n.3160-334C>T) n.3544C>T c.3358C>T (p.Pro1120Ser) c.3313C>T (p.Pro1105Ser) c.3268C>T (p.Pro1090Ser) c.3337C>T (p.Pro1113Ser) c.3322C>T (p.Pro1108Ser) c.3301C>T (p.Pro1101Ser) c.3295C>T (p.Pro1099Ser) c.3250C>T (p.Pro1084Ser) c.3241C>T (p.Pro1081Ser) c.3217C>T (p.Pro1073Ser) c.3211C>T (p.Pro1071Ser) c.3184C>T (p.Pro1062Ser) c.3178C>T (p.Pro1060Ser) c.3172C>T (p.Pro1058Ser) c.3133C>T (p.Pro1045Ser) c.3121C>T (p.Pro1041Ser) c.3064C>T (p.Pro1022Ser) c.3040C>T (p.Pro1014Ser) c.3034C>T (p.Pro1012Ser) c.3016C>T (p.Pro1006Ser) c.2962C>T (p.Pro988Ser) c.3118-334C>T (n.3118-334C>T) c.2269C>T (p.Pro757Ser) c.2182C>T (p.Pro728Ser) n.3458C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727356C>A | CA399310360 | ERBB2 | c.3221C>A (p.Pro1074Gln) c.3131C>A (p.Pro1044Gln) c.2393C>A (p.Pro798Gln) c.3176C>A (p.Pro1059Gln) c.*3011C>A (n.*3011C>A) c.3160-333C>A (n.3160-333C>A) n.3545C>A c.3359C>A (p.Pro1120Gln) c.3314C>A (p.Pro1105Gln) c.3269C>A (p.Pro1090Gln) c.3338C>A (p.Pro1113Gln) c.3323C>A (p.Pro1108Gln) c.3302C>A (p.Pro1101Gln) c.3296C>A (p.Pro1099Gln) c.3251C>A (p.Pro1084Gln) c.3242C>A (p.Pro1081Gln) c.3218C>A (p.Pro1073Gln) c.3212C>A (p.Pro1071Gln) c.3185C>A (p.Pro1062Gln) c.3179C>A (p.Pro1060Gln) c.3173C>A (p.Pro1058Gln) c.3134C>A (p.Pro1045Gln) c.3122C>A (p.Pro1041Gln) c.3065C>A (p.Pro1022Gln) c.3041C>A (p.Pro1014Gln) c.3035C>A (p.Pro1012Gln) c.3017C>A (p.Pro1006Gln) c.2963C>A (p.Pro988Gln) c.3118-333C>A (n.3118-333C>A) c.2270C>A (p.Pro757Gln) c.2183C>A (p.Pro728Gln) n.3459C>A | |
17 | g.39727356C>G | CA399310354 | ERBB2 | c.3221C>G (p.Pro1074Arg) c.3131C>G (p.Pro1044Arg) c.2393C>G (p.Pro798Arg) c.3176C>G (p.Pro1059Arg) c.*3011C>G (n.*3011C>G) c.3160-333C>G (n.3160-333C>G) n.3545C>G c.3359C>G (p.Pro1120Arg) c.3314C>G (p.Pro1105Arg) c.3269C>G (p.Pro1090Arg) c.3338C>G (p.Pro1113Arg) c.3323C>G (p.Pro1108Arg) c.3302C>G (p.Pro1101Arg) c.3296C>G (p.Pro1099Arg) c.3251C>G (p.Pro1084Arg) c.3242C>G (p.Pro1081Arg) c.3218C>G (p.Pro1073Arg) c.3212C>G (p.Pro1071Arg) c.3185C>G (p.Pro1062Arg) c.3179C>G (p.Pro1060Arg) c.3173C>G (p.Pro1058Arg) c.3134C>G (p.Pro1045Arg) c.3122C>G (p.Pro1041Arg) c.3065C>G (p.Pro1022Arg) c.3041C>G (p.Pro1014Arg) c.3035C>G (p.Pro1012Arg) c.3017C>G (p.Pro1006Arg) c.2963C>G (p.Pro988Arg) c.3118-333C>G (n.3118-333C>G) c.2270C>G (p.Pro757Arg) c.2183C>G (p.Pro728Arg) n.3459C>G | gnomAD v4 |
17 | g.39727356C>T | CA399310357 | ERBB2 | c.3221C>T (p.Pro1074Leu) c.3131C>T (p.Pro1044Leu) c.2393C>T (p.Pro798Leu) c.3176C>T (p.Pro1059Leu) c.*3011C>T (n.*3011C>T) c.3160-333C>T (n.3160-333C>T) n.3545C>T c.3359C>T (p.Pro1120Leu) c.3314C>T (p.Pro1105Leu) c.3269C>T (p.Pro1090Leu) c.3338C>T (p.Pro1113Leu) c.3323C>T (p.Pro1108Leu) c.3302C>T (p.Pro1101Leu) c.3296C>T (p.Pro1099Leu) c.3251C>T (p.Pro1084Leu) c.3242C>T (p.Pro1081Leu) c.3218C>T (p.Pro1073Leu) c.3212C>T (p.Pro1071Leu) c.3185C>T (p.Pro1062Leu) c.3179C>T (p.Pro1060Leu) c.3173C>T (p.Pro1058Leu) c.3134C>T (p.Pro1045Leu) c.3122C>T (p.Pro1041Leu) c.3065C>T (p.Pro1022Leu) c.3041C>T (p.Pro1014Leu) c.3035C>T (p.Pro1012Leu) c.3017C>T (p.Pro1006Leu) c.2963C>T (p.Pro988Leu) c.3118-333C>T (n.3118-333C>T) c.2270C>T (p.Pro757Leu) c.2183C>T (p.Pro728Leu) n.3459C>T | gnomAD v4 |
17 | g.39727357A>C | CA499671616 | ERBB2 | c.3222A>C (p.Pro1074=) c.3132A>C (p.Pro1044=) c.2394A>C (p.Pro798=) c.3177A>C (p.Pro1059=) c.*3012A>C (n.*3012A>C) c.3160-332A>C (n.3160-332A>C) n.3546A>C c.3360A>C (p.Pro1120=) c.3315A>C (p.Pro1105=) c.3270A>C (p.Pro1090=) c.3339A>C (p.Pro1113=) c.3324A>C (p.Pro1108=) c.3303A>C (p.Pro1101=) c.3297A>C (p.Pro1099=) c.3252A>C (p.Pro1084=) c.3243A>C (p.Pro1081=) c.3219A>C (p.Pro1073=) c.3213A>C (p.Pro1071=) c.3186A>C (p.Pro1062=) c.3180A>C (p.Pro1060=) c.3174A>C (p.Pro1058=) c.3135A>C (p.Pro1045=) c.3123A>C (p.Pro1041=) c.3066A>C (p.Pro1022=) c.3042A>C (p.Pro1014=) c.3036A>C (p.Pro1012=) c.3018A>C (p.Pro1006=) c.2964A>C (p.Pro988=) c.3118-332A>C (n.3118-332A>C) c.2271A>C (p.Pro757=) c.2184A>C (p.Pro728=) n.3460A>C | dbSNP |
17 | g.39727357A>G | CA499671615 | ERBB2 | c.3222A>G (p.Pro1074=) c.3132A>G (p.Pro1044=) c.2394A>G (p.Pro798=) c.3177A>G (p.Pro1059=) c.*3012A>G (n.*3012A>G) c.3160-332A>G (n.3160-332A>G) n.3546A>G c.3360A>G (p.Pro1120=) c.3315A>G (p.Pro1105=) c.3270A>G (p.Pro1090=) c.3339A>G (p.Pro1113=) c.3324A>G (p.Pro1108=) c.3303A>G (p.Pro1101=) c.3297A>G (p.Pro1099=) c.3252A>G (p.Pro1084=) c.3243A>G (p.Pro1081=) c.3219A>G (p.Pro1073=) c.3213A>G (p.Pro1071=) c.3186A>G (p.Pro1062=) c.3180A>G (p.Pro1060=) c.3174A>G (p.Pro1058=) c.3135A>G (p.Pro1045=) c.3123A>G (p.Pro1041=) c.3066A>G (p.Pro1022=) c.3042A>G (p.Pro1014=) c.3036A>G (p.Pro1012=) c.3018A>G (p.Pro1006=) c.2964A>G (p.Pro988=) c.3118-332A>G (n.3118-332A>G) c.2271A>G (p.Pro757=) c.2184A>G (p.Pro728=) n.3460A>G | dbSNP |
17 | g.39727357A>T | CA499671614 | ERBB2 | c.3222A>T (p.Pro1074=) c.3132A>T (p.Pro1044=) c.2394A>T (p.Pro798=) c.3177A>T (p.Pro1059=) c.*3012A>T (n.*3012A>T) c.3160-332A>T (n.3160-332A>T) n.3546A>T c.3360A>T (p.Pro1120=) c.3315A>T (p.Pro1105=) c.3270A>T (p.Pro1090=) c.3339A>T (p.Pro1113=) c.3324A>T (p.Pro1108=) c.3303A>T (p.Pro1101=) c.3297A>T (p.Pro1099=) c.3252A>T (p.Pro1084=) c.3243A>T (p.Pro1081=) c.3219A>T (p.Pro1073=) c.3213A>T (p.Pro1071=) c.3186A>T (p.Pro1062=) c.3180A>T (p.Pro1060=) c.3174A>T (p.Pro1058=) c.3135A>T (p.Pro1045=) c.3123A>T (p.Pro1041=) c.3066A>T (p.Pro1022=) c.3042A>T (p.Pro1014=) c.3036A>T (p.Pro1012=) c.3018A>T (p.Pro1006=) c.2964A>T (p.Pro988=) c.3118-332A>T (n.3118-332A>T) c.2271A>T (p.Pro757=) c.2184A>T (p.Pro728=) n.3460A>T | dbSNP |
17 | g.39727358C>A | CA399310363 | ERBB2 | c.3223C>A (p.Leu1075Met) c.3133C>A (p.Leu1045Met) c.2395C>A (p.Leu799Met) c.3178C>A (p.Leu1060Met) c.*3013C>A (n.*3013C>A) c.3160-331C>A (n.3160-331C>A) n.3547C>A c.3361C>A (p.Leu1121Met) c.3316C>A (p.Leu1106Met) c.3271C>A (p.Leu1091Met) c.3340C>A (p.Leu1114Met) c.3325C>A (p.Leu1109Met) c.3304C>A (p.Leu1102Met) c.3298C>A (p.Leu1100Met) c.3253C>A (p.Leu1085Met) c.3244C>A (p.Leu1082Met) c.3220C>A (p.Leu1074Met) c.3214C>A (p.Leu1072Met) c.3187C>A (p.Leu1063Met) c.3181C>A (p.Leu1061Met) c.3175C>A (p.Leu1059Met) c.3136C>A (p.Leu1046Met) c.3124C>A (p.Leu1042Met) c.3067C>A (p.Leu1023Met) c.3043C>A (p.Leu1015Met) c.3037C>A (p.Leu1013Met) c.3019C>A (p.Leu1007Met) c.2965C>A (p.Leu989Met) c.3118-331C>A (n.3118-331C>A) c.2272C>A (p.Leu758Met) c.2185C>A (p.Leu729Met) n.3461C>A | dbSNP |
17 | g.39727358C>G | CA399310366 | ERBB2 | c.3223C>G (p.Leu1075Val) c.3133C>G (p.Leu1045Val) c.2395C>G (p.Leu799Val) c.3178C>G (p.Leu1060Val) c.*3013C>G (n.*3013C>G) c.3160-331C>G (n.3160-331C>G) n.3547C>G c.3361C>G (p.Leu1121Val) c.3316C>G (p.Leu1106Val) c.3271C>G (p.Leu1091Val) c.3340C>G (p.Leu1114Val) c.3325C>G (p.Leu1109Val) c.3304C>G (p.Leu1102Val) c.3298C>G (p.Leu1100Val) c.3253C>G (p.Leu1085Val) c.3244C>G (p.Leu1082Val) c.3220C>G (p.Leu1074Val) c.3214C>G (p.Leu1072Val) c.3187C>G (p.Leu1063Val) c.3181C>G (p.Leu1061Val) c.3175C>G (p.Leu1059Val) c.3136C>G (p.Leu1046Val) c.3124C>G (p.Leu1042Val) c.3067C>G (p.Leu1023Val) c.3043C>G (p.Leu1015Val) c.3037C>G (p.Leu1013Val) c.3019C>G (p.Leu1007Val) c.2965C>G (p.Leu989Val) c.3118-331C>G (n.3118-331C>G) c.2272C>G (p.Leu758Val) c.2185C>G (p.Leu729Val) n.3461C>G | dbSNP |
17 | g.39727358C>T | CA499671617 | ERBB2 | c.3223C>T (p.Leu1075=) c.3133C>T (p.Leu1045=) c.2395C>T (p.Leu799=) c.3178C>T (p.Leu1060=) c.*3013C>T (n.*3013C>T) c.3160-331C>T (n.3160-331C>T) n.3547C>T c.3361C>T (p.Leu1121=) c.3316C>T (p.Leu1106=) c.3271C>T (p.Leu1091=) c.3340C>T (p.Leu1114=) c.3325C>T (p.Leu1109=) c.3304C>T (p.Leu1102=) c.3298C>T (p.Leu1100=) c.3253C>T (p.Leu1085=) c.3244C>T (p.Leu1082=) c.3220C>T (p.Leu1074=) c.3214C>T (p.Leu1072=) c.3187C>T (p.Leu1063=) c.3181C>T (p.Leu1061=) c.3175C>T (p.Leu1059=) c.3136C>T (p.Leu1046=) c.3124C>T (p.Leu1042=) c.3067C>T (p.Leu1023=) c.3043C>T (p.Leu1015=) c.3037C>T (p.Leu1013=) c.3019C>T (p.Leu1007=) c.2965C>T (p.Leu989=) c.3118-331C>T (n.3118-331C>T) c.2272C>T (p.Leu758=) c.2185C>T (p.Leu729=) n.3461C>T | dbSNP gnomAD v4 |
17 | g.39727359T>A | CA399310369 | ERBB2 | c.3224T>A (p.Leu1075Gln) c.3134T>A (p.Leu1045Gln) c.2396T>A (p.Leu799Gln) c.3179T>A (p.Leu1060Gln) c.*3014T>A (n.*3014T>A) c.3160-330T>A (n.3160-330T>A) n.3548T>A c.3362T>A (p.Leu1121Gln) c.3317T>A (p.Leu1106Gln) c.3272T>A (p.Leu1091Gln) c.3341T>A (p.Leu1114Gln) c.3326T>A (p.Leu1109Gln) c.3305T>A (p.Leu1102Gln) c.3299T>A (p.Leu1100Gln) c.3254T>A (p.Leu1085Gln) c.3245T>A (p.Leu1082Gln) c.3221T>A (p.Leu1074Gln) c.3215T>A (p.Leu1072Gln) c.3188T>A (p.Leu1063Gln) c.3182T>A (p.Leu1061Gln) c.3176T>A (p.Leu1059Gln) c.3137T>A (p.Leu1046Gln) c.3125T>A (p.Leu1042Gln) c.3068T>A (p.Leu1023Gln) c.3044T>A (p.Leu1015Gln) c.3038T>A (p.Leu1013Gln) c.3020T>A (p.Leu1007Gln) c.2966T>A (p.Leu989Gln) c.3118-330T>A (n.3118-330T>A) c.2273T>A (p.Leu758Gln) c.2186T>A (p.Leu729Gln) n.3462T>A | |
17 | g.39727359T>C | CA399310372 | ERBB2 | c.3224T>C (p.Leu1075Pro) c.3134T>C (p.Leu1045Pro) c.2396T>C (p.Leu799Pro) c.3179T>C (p.Leu1060Pro) c.*3014T>C (n.*3014T>C) c.3160-330T>C (n.3160-330T>C) n.3548T>C c.3362T>C (p.Leu1121Pro) c.3317T>C (p.Leu1106Pro) c.3272T>C (p.Leu1091Pro) c.3341T>C (p.Leu1114Pro) c.3326T>C (p.Leu1109Pro) c.3305T>C (p.Leu1102Pro) c.3299T>C (p.Leu1100Pro) c.3254T>C (p.Leu1085Pro) c.3245T>C (p.Leu1082Pro) c.3221T>C (p.Leu1074Pro) c.3215T>C (p.Leu1072Pro) c.3188T>C (p.Leu1063Pro) c.3182T>C (p.Leu1061Pro) c.3176T>C (p.Leu1059Pro) c.3137T>C (p.Leu1046Pro) c.3125T>C (p.Leu1042Pro) c.3068T>C (p.Leu1023Pro) c.3044T>C (p.Leu1015Pro) c.3038T>C (p.Leu1013Pro) c.3020T>C (p.Leu1007Pro) c.2966T>C (p.Leu989Pro) c.3118-330T>C (n.3118-330T>C) c.2273T>C (p.Leu758Pro) c.2186T>C (p.Leu729Pro) n.3462T>C | gnomAD v4 |
17 | g.39727359T>G | CA399310374 | ERBB2 | c.3224T>G (p.Leu1075Arg) c.3134T>G (p.Leu1045Arg) c.2396T>G (p.Leu799Arg) c.3179T>G (p.Leu1060Arg) c.*3014T>G (n.*3014T>G) c.3160-330T>G (n.3160-330T>G) n.3548T>G c.3362T>G (p.Leu1121Arg) c.3317T>G (p.Leu1106Arg) c.3272T>G (p.Leu1091Arg) c.3341T>G (p.Leu1114Arg) c.3326T>G (p.Leu1109Arg) c.3305T>G (p.Leu1102Arg) c.3299T>G (p.Leu1100Arg) c.3254T>G (p.Leu1085Arg) c.3245T>G (p.Leu1082Arg) c.3221T>G (p.Leu1074Arg) c.3215T>G (p.Leu1072Arg) c.3188T>G (p.Leu1063Arg) c.3182T>G (p.Leu1061Arg) c.3176T>G (p.Leu1059Arg) c.3137T>G (p.Leu1046Arg) c.3125T>G (p.Leu1042Arg) c.3068T>G (p.Leu1023Arg) c.3044T>G (p.Leu1015Arg) c.3038T>G (p.Leu1013Arg) c.3020T>G (p.Leu1007Arg) c.2966T>G (p.Leu989Arg) c.3118-330T>G (n.3118-330T>G) c.2273T>G (p.Leu758Arg) c.2186T>G (p.Leu729Arg) n.3462T>G | |
17 | g.39727360G>A | CA499671618 | ERBB2 | c.3225G>A (p.Leu1075=) c.3135G>A (p.Leu1045=) c.2397G>A (p.Leu799=) c.3180G>A (p.Leu1060=) c.*3015G>A (n.*3015G>A) c.3160-329G>A (n.3160-329G>A) n.3549G>A c.3363G>A (p.Leu1121=) c.3318G>A (p.Leu1106=) c.3273G>A (p.Leu1091=) c.3342G>A (p.Leu1114=) c.3327G>A (p.Leu1109=) c.3306G>A (p.Leu1102=) c.3300G>A (p.Leu1100=) c.3255G>A (p.Leu1085=) c.3246G>A (p.Leu1082=) c.3222G>A (p.Leu1074=) c.3216G>A (p.Leu1072=) c.3189G>A (p.Leu1063=) c.3183G>A (p.Leu1061=) c.3177G>A (p.Leu1059=) c.3138G>A (p.Leu1046=) c.3126G>A (p.Leu1042=) c.3069G>A (p.Leu1023=) c.3045G>A (p.Leu1015=) c.3039G>A (p.Leu1013=) c.3021G>A (p.Leu1007=) c.2967G>A (p.Leu989=) c.3118-329G>A (n.3118-329G>A) c.2274G>A (p.Leu758=) c.2187G>A (p.Leu729=) n.3463G>A | dbSNP |
17 | g.39727360G>C | CA499671620 | ERBB2 | c.3225G>C (p.Leu1075=) c.3135G>C (p.Leu1045=) c.2397G>C (p.Leu799=) c.3180G>C (p.Leu1060=) c.*3015G>C (n.*3015G>C) c.3160-329G>C (n.3160-329G>C) n.3549G>C c.3363G>C (p.Leu1121=) c.3318G>C (p.Leu1106=) c.3273G>C (p.Leu1091=) c.3342G>C (p.Leu1114=) c.3327G>C (p.Leu1109=) c.3306G>C (p.Leu1102=) c.3300G>C (p.Leu1100=) c.3255G>C (p.Leu1085=) c.3246G>C (p.Leu1082=) c.3222G>C (p.Leu1074=) c.3216G>C (p.Leu1072=) c.3189G>C (p.Leu1063=) c.3183G>C (p.Leu1061=) c.3177G>C (p.Leu1059=) c.3138G>C (p.Leu1046=) c.3126G>C (p.Leu1042=) c.3069G>C (p.Leu1023=) c.3045G>C (p.Leu1015=) c.3039G>C (p.Leu1013=) c.3021G>C (p.Leu1007=) c.2967G>C (p.Leu989=) c.3118-329G>C (n.3118-329G>C) c.2274G>C (p.Leu758=) c.2187G>C (p.Leu729=) n.3463G>C | dbSNP |
17 | g.39727360G>T | CA499671619 | ERBB2 | c.3225G>T (p.Leu1075=) c.3135G>T (p.Leu1045=) c.2397G>T (p.Leu799=) c.3180G>T (p.Leu1060=) c.*3015G>T (n.*3015G>T) c.3160-329G>T (n.3160-329G>T) n.3549G>T c.3363G>T (p.Leu1121=) c.3318G>T (p.Leu1106=) c.3273G>T (p.Leu1091=) c.3342G>T (p.Leu1114=) c.3327G>T (p.Leu1109=) c.3306G>T (p.Leu1102=) c.3300G>T (p.Leu1100=) c.3255G>T (p.Leu1085=) c.3246G>T (p.Leu1082=) c.3222G>T (p.Leu1074=) c.3216G>T (p.Leu1072=) c.3189G>T (p.Leu1063=) c.3183G>T (p.Leu1061=) c.3177G>T (p.Leu1059=) c.3138G>T (p.Leu1046=) c.3126G>T (p.Leu1042=) c.3069G>T (p.Leu1023=) c.3045G>T (p.Leu1015=) c.3039G>T (p.Leu1013=) c.3021G>T (p.Leu1007=) c.2967G>T (p.Leu989=) c.3118-329G>T (n.3118-329G>T) c.2274G>T (p.Leu758=) c.2187G>T (p.Leu729=) n.3463G>T | dbSNP |
17 | g.39727361G>A | CA399310379 | ERBB2 | c.3226G>A (p.Ala1076Thr) c.3136G>A (p.Ala1046Thr) c.2398G>A (p.Ala800Thr) c.3181G>A (p.Ala1061Thr) c.*3016G>A (n.*3016G>A) c.3160-328G>A (n.3160-328G>A) n.3550G>A c.3364G>A (p.Ala1122Thr) c.3319G>A (p.Ala1107Thr) c.3274G>A (p.Ala1092Thr) c.3343G>A (p.Ala1115Thr) c.3328G>A (p.Ala1110Thr) c.3307G>A (p.Ala1103Thr) c.3301G>A (p.Ala1101Thr) c.3256G>A (p.Ala1086Thr) c.3247G>A (p.Ala1083Thr) c.3223G>A (p.Ala1075Thr) c.3217G>A (p.Ala1073Thr) c.3190G>A (p.Ala1064Thr) c.3184G>A (p.Ala1062Thr) c.3178G>A (p.Ala1060Thr) c.3139G>A (p.Ala1047Thr) c.3127G>A (p.Ala1043Thr) c.3070G>A (p.Ala1024Thr) c.3046G>A (p.Ala1016Thr) c.3040G>A (p.Ala1014Thr) c.3022G>A (p.Ala1008Thr) c.2968G>A (p.Ala990Thr) c.3118-328G>A (n.3118-328G>A) c.2275G>A (p.Ala759Thr) c.2188G>A (p.Ala730Thr) n.3464G>A | gnomAD v4 |
17 | g.39727361G>C | CA399310384 | ERBB2 | c.3226G>C (p.Ala1076Pro) c.3136G>C (p.Ala1046Pro) c.2398G>C (p.Ala800Pro) c.3181G>C (p.Ala1061Pro) c.*3016G>C (n.*3016G>C) c.3160-328G>C (n.3160-328G>C) n.3550G>C c.3364G>C (p.Ala1122Pro) c.3319G>C (p.Ala1107Pro) c.3274G>C (p.Ala1092Pro) c.3343G>C (p.Ala1115Pro) c.3328G>C (p.Ala1110Pro) c.3307G>C (p.Ala1103Pro) c.3301G>C (p.Ala1101Pro) c.3256G>C (p.Ala1086Pro) c.3247G>C (p.Ala1083Pro) c.3223G>C (p.Ala1075Pro) c.3217G>C (p.Ala1073Pro) c.3190G>C (p.Ala1064Pro) c.3184G>C (p.Ala1062Pro) c.3178G>C (p.Ala1060Pro) c.3139G>C (p.Ala1047Pro) c.3127G>C (p.Ala1043Pro) c.3070G>C (p.Ala1024Pro) c.3046G>C (p.Ala1016Pro) c.3040G>C (p.Ala1014Pro) c.3022G>C (p.Ala1008Pro) c.2968G>C (p.Ala990Pro) c.3118-328G>C (n.3118-328G>C) c.2275G>C (p.Ala759Pro) c.2188G>C (p.Ala730Pro) n.3464G>C | |
17 | g.39727361G>T | CA399310382 | ERBB2 | c.3226G>T (p.Ala1076Ser) c.3136G>T (p.Ala1046Ser) c.2398G>T (p.Ala800Ser) c.3181G>T (p.Ala1061Ser) c.*3016G>T (n.*3016G>T) c.3160-328G>T (n.3160-328G>T) n.3550G>T c.3364G>T (p.Ala1122Ser) c.3319G>T (p.Ala1107Ser) c.3274G>T (p.Ala1092Ser) c.3343G>T (p.Ala1115Ser) c.3328G>T (p.Ala1110Ser) c.3307G>T (p.Ala1103Ser) c.3301G>T (p.Ala1101Ser) c.3256G>T (p.Ala1086Ser) c.3247G>T (p.Ala1083Ser) c.3223G>T (p.Ala1075Ser) c.3217G>T (p.Ala1073Ser) c.3190G>T (p.Ala1064Ser) c.3184G>T (p.Ala1062Ser) c.3178G>T (p.Ala1060Ser) c.3139G>T (p.Ala1047Ser) c.3127G>T (p.Ala1043Ser) c.3070G>T (p.Ala1024Ser) c.3046G>T (p.Ala1016Ser) c.3040G>T (p.Ala1014Ser) c.3022G>T (p.Ala1008Ser) c.2968G>T (p.Ala990Ser) c.3118-328G>T (n.3118-328G>T) c.2275G>T (p.Ala759Ser) c.2188G>T (p.Ala730Ser) n.3464G>T | |
17 | g.39727362C>A | CA399310387 | ERBB2 | c.3227C>A (p.Ala1076Glu) c.3137C>A (p.Ala1046Glu) c.2399C>A (p.Ala800Glu) c.3182C>A (p.Ala1061Glu) c.*3017C>A (n.*3017C>A) c.3160-327C>A (n.3160-327C>A) n.3551C>A c.3365C>A (p.Ala1122Glu) c.3320C>A (p.Ala1107Glu) c.3275C>A (p.Ala1092Glu) c.3344C>A (p.Ala1115Glu) c.3329C>A (p.Ala1110Glu) c.3308C>A (p.Ala1103Glu) c.3302C>A (p.Ala1101Glu) c.3257C>A (p.Ala1086Glu) c.3248C>A (p.Ala1083Glu) c.3224C>A (p.Ala1075Glu) c.3218C>A (p.Ala1073Glu) c.3191C>A (p.Ala1064Glu) c.3185C>A (p.Ala1062Glu) c.3179C>A (p.Ala1060Glu) c.3140C>A (p.Ala1047Glu) c.3128C>A (p.Ala1043Glu) c.3071C>A (p.Ala1024Glu) c.3047C>A (p.Ala1016Glu) c.3041C>A (p.Ala1014Glu) c.3023C>A (p.Ala1008Glu) c.2969C>A (p.Ala990Glu) c.3118-327C>A (n.3118-327C>A) c.2276C>A (p.Ala759Glu) c.2189C>A (p.Ala730Glu) n.3465C>A | dbSNP |
17 | g.39727362C>G | CA399310388 | ERBB2 | c.3227C>G (p.Ala1076Gly) c.3137C>G (p.Ala1046Gly) c.2399C>G (p.Ala800Gly) c.3182C>G (p.Ala1061Gly) c.*3017C>G (n.*3017C>G) c.3160-327C>G (n.3160-327C>G) n.3551C>G c.3365C>G (p.Ala1122Gly) c.3320C>G (p.Ala1107Gly) c.3275C>G (p.Ala1092Gly) c.3344C>G (p.Ala1115Gly) c.3329C>G (p.Ala1110Gly) c.3308C>G (p.Ala1103Gly) c.3302C>G (p.Ala1101Gly) c.3257C>G (p.Ala1086Gly) c.3248C>G (p.Ala1083Gly) c.3224C>G (p.Ala1075Gly) c.3218C>G (p.Ala1073Gly) c.3191C>G (p.Ala1064Gly) c.3185C>G (p.Ala1062Gly) c.3179C>G (p.Ala1060Gly) c.3140C>G (p.Ala1047Gly) c.3128C>G (p.Ala1043Gly) c.3071C>G (p.Ala1024Gly) c.3047C>G (p.Ala1016Gly) c.3041C>G (p.Ala1014Gly) c.3023C>G (p.Ala1008Gly) c.2969C>G (p.Ala990Gly) c.3118-327C>G (n.3118-327C>G) c.2276C>G (p.Ala759Gly) c.2189C>G (p.Ala730Gly) n.3465C>G | dbSNP |
17 | g.39727362C>T | CA399310390 | ERBB2 | c.3227C>T (p.Ala1076Val) c.3137C>T (p.Ala1046Val) c.2399C>T (p.Ala800Val) c.3182C>T (p.Ala1061Val) c.*3017C>T (n.*3017C>T) c.3160-327C>T (n.3160-327C>T) n.3551C>T c.3365C>T (p.Ala1122Val) c.3320C>T (p.Ala1107Val) c.3275C>T (p.Ala1092Val) c.3344C>T (p.Ala1115Val) c.3329C>T (p.Ala1110Val) c.3308C>T (p.Ala1103Val) c.3302C>T (p.Ala1101Val) c.3257C>T (p.Ala1086Val) c.3248C>T (p.Ala1083Val) c.3224C>T (p.Ala1075Val) c.3218C>T (p.Ala1073Val) c.3191C>T (p.Ala1064Val) c.3185C>T (p.Ala1062Val) c.3179C>T (p.Ala1060Val) c.3140C>T (p.Ala1047Val) c.3128C>T (p.Ala1043Val) c.3071C>T (p.Ala1024Val) c.3047C>T (p.Ala1016Val) c.3041C>T (p.Ala1014Val) c.3023C>T (p.Ala1008Val) c.2969C>T (p.Ala990Val) c.3118-327C>T (n.3118-327C>T) c.2276C>T (p.Ala759Val) c.2189C>T (p.Ala730Val) n.3465C>T | dbSNP |
17 | g.39727363A= | CA2259228714 | ERBB2 | c.3228A= (p.Ala1076=) c.3138A= (p.Ala1046=) c.2400A= (p.Ala800=) c.3183A= (p.Ala1061=) c.*3018A= (n.*3018A=) c.3160-326A= (n.3160-326A=) n.3552A= c.3366A= (p.Ala1122=) c.3321A= (p.Ala1107=) c.3276A= (p.Ala1092=) c.3345A= (p.Ala1115=) c.3330A= (p.Ala1110=) c.3309A= (p.Ala1103=) c.3303A= (p.Ala1101=) c.3258A= (p.Ala1086=) c.3249A= (p.Ala1083=) c.3225A= (p.Ala1075=) c.3219A= (p.Ala1073=) c.3192A= (p.Ala1064=) c.3186A= (p.Ala1062=) c.3180A= (p.Ala1060=) c.3141A= (p.Ala1047=) c.3129A= (p.Ala1043=) c.3072A= (p.Ala1024=) c.3048A= (p.Ala1016=) c.3042A= (p.Ala1014=) c.3024A= (p.Ala1008=) c.2970A= (p.Ala990=) c.3118-326A= (n.3118-326A=) c.2277A= (p.Ala759=) c.2190A= (p.Ala730=) n.3466A= | |
17 | g.39727363A>C | CA499671621 | ERBB2 | c.3228A>C (p.Ala1076=) c.3138A>C (p.Ala1046=) c.2400A>C (p.Ala800=) c.3183A>C (p.Ala1061=) c.*3018A>C (n.*3018A>C) c.3160-326A>C (n.3160-326A>C) n.3552A>C c.3366A>C (p.Ala1122=) c.3321A>C (p.Ala1107=) c.3276A>C (p.Ala1092=) c.3345A>C (p.Ala1115=) c.3330A>C (p.Ala1110=) c.3309A>C (p.Ala1103=) c.3303A>C (p.Ala1101=) c.3258A>C (p.Ala1086=) c.3249A>C (p.Ala1083=) c.3225A>C (p.Ala1075=) c.3219A>C (p.Ala1073=) c.3192A>C (p.Ala1064=) c.3186A>C (p.Ala1062=) c.3180A>C (p.Ala1060=) c.3141A>C (p.Ala1047=) c.3129A>C (p.Ala1043=) c.3072A>C (p.Ala1024=) c.3048A>C (p.Ala1016=) c.3042A>C (p.Ala1014=) c.3024A>C (p.Ala1008=) c.2970A>C (p.Ala990=) c.3118-326A>C (n.3118-326A>C) c.2277A>C (p.Ala759=) c.2190A>C (p.Ala730=) n.3466A>C | dbSNP |
17 | g.39727363A>G | CA499671622 | ERBB2 | c.3228A>G (p.Ala1076=) c.3138A>G (p.Ala1046=) c.2400A>G (p.Ala800=) c.3183A>G (p.Ala1061=) c.*3018A>G (n.*3018A>G) c.3160-326A>G (n.3160-326A>G) n.3552A>G c.3366A>G (p.Ala1122=) c.3321A>G (p.Ala1107=) c.3276A>G (p.Ala1092=) c.3345A>G (p.Ala1115=) c.3330A>G (p.Ala1110=) c.3309A>G (p.Ala1103=) c.3303A>G (p.Ala1101=) c.3258A>G (p.Ala1086=) c.3249A>G (p.Ala1083=) c.3225A>G (p.Ala1075=) c.3219A>G (p.Ala1073=) c.3192A>G (p.Ala1064=) c.3186A>G (p.Ala1062=) c.3180A>G (p.Ala1060=) c.3141A>G (p.Ala1047=) c.3129A>G (p.Ala1043=) c.3072A>G (p.Ala1024=) c.3048A>G (p.Ala1016=) c.3042A>G (p.Ala1014=) c.3024A>G (p.Ala1008=) c.2970A>G (p.Ala990=) c.3118-326A>G (n.3118-326A>G) c.2277A>G (p.Ala759=) c.2190A>G (p.Ala730=) n.3466A>G | dbSNP |
17 | g.39727363A>T | CA499671623 | ERBB2 | c.3228A>T (p.Ala1076=) c.3138A>T (p.Ala1046=) c.2400A>T (p.Ala800=) c.3183A>T (p.Ala1061=) c.*3018A>T (n.*3018A>T) c.3160-326A>T (n.3160-326A>T) n.3552A>T c.3366A>T (p.Ala1122=) c.3321A>T (p.Ala1107=) c.3276A>T (p.Ala1092=) c.3345A>T (p.Ala1115=) c.3330A>T (p.Ala1110=) c.3309A>T (p.Ala1103=) c.3303A>T (p.Ala1101=) c.3258A>T (p.Ala1086=) c.3249A>T (p.Ala1083=) c.3225A>T (p.Ala1075=) c.3219A>T (p.Ala1073=) c.3192A>T (p.Ala1064=) c.3186A>T (p.Ala1062=) c.3180A>T (p.Ala1060=) c.3141A>T (p.Ala1047=) c.3129A>T (p.Ala1043=) c.3072A>T (p.Ala1024=) c.3048A>T (p.Ala1016=) c.3042A>T (p.Ala1014=) c.3024A>T (p.Ala1008=) c.2970A>T (p.Ala990=) c.3118-326A>T (n.3118-326A>T) c.2277A>T (p.Ala759=) c.2190A>T (p.Ala730=) n.3466A>T | dbSNP |
17 | g.39727364C>A | CA399310394 | ERBB2 | c.3229C>A (p.Pro1077Thr) c.3139C>A (p.Pro1047Thr) c.2401C>A (p.Pro801Thr) c.3184C>A (p.Pro1062Thr) c.*3019C>A (n.*3019C>A) c.3160-325C>A (n.3160-325C>A) n.3553C>A c.3367C>A (p.Pro1123Thr) c.3322C>A (p.Pro1108Thr) c.3277C>A (p.Pro1093Thr) c.3346C>A (p.Pro1116Thr) c.3331C>A (p.Pro1111Thr) c.3310C>A (p.Pro1104Thr) c.3304C>A (p.Pro1102Thr) c.3259C>A (p.Pro1087Thr) c.3250C>A (p.Pro1084Thr) c.3226C>A (p.Pro1076Thr) c.3220C>A (p.Pro1074Thr) c.3193C>A (p.Pro1065Thr) c.3187C>A (p.Pro1063Thr) c.3181C>A (p.Pro1061Thr) c.3142C>A (p.Pro1048Thr) c.3130C>A (p.Pro1044Thr) c.3073C>A (p.Pro1025Thr) c.3049C>A (p.Pro1017Thr) c.3043C>A (p.Pro1015Thr) c.3025C>A (p.Pro1009Thr) c.2971C>A (p.Pro991Thr) c.3118-325C>A (n.3118-325C>A) c.2278C>A (p.Pro760Thr) c.2191C>A (p.Pro731Thr) n.3467C>A | dbSNP |
17 | g.39727364C= | CA2259228717 | ERBB2 | c.3229C= (p.Pro1077=) c.3139C= (p.Pro1047=) c.2401C= (p.Pro801=) c.3184C= (p.Pro1062=) c.*3019C= (n.*3019C=) c.3160-325C= (n.3160-325C=) n.3553C= c.3367C= (p.Pro1123=) c.3322C= (p.Pro1108=) c.3277C= (p.Pro1093=) c.3346C= (p.Pro1116=) c.3331C= (p.Pro1111=) c.3310C= (p.Pro1104=) c.3304C= (p.Pro1102=) c.3259C= (p.Pro1087=) c.3250C= (p.Pro1084=) c.3226C= (p.Pro1076=) c.3220C= (p.Pro1074=) c.3193C= (p.Pro1065=) c.3187C= (p.Pro1063=) c.3181C= (p.Pro1061=) c.3142C= (p.Pro1048=) c.3130C= (p.Pro1044=) c.3073C= (p.Pro1025=) c.3049C= (p.Pro1017=) c.3043C= (p.Pro1015=) c.3025C= (p.Pro1009=) c.2971C= (p.Pro991=) c.3118-325C= (n.3118-325C=) c.2278C= (p.Pro760=) c.2191C= (p.Pro731=) n.3467C= | |
17 | g.39727364C>G | CA8534505 | ERBB2 | c.3229C>G (p.Pro1077Ala) c.3139C>G (p.Pro1047Ala) c.2401C>G (p.Pro801Ala) c.3184C>G (p.Pro1062Ala) c.*3019C>G (n.*3019C>G) c.3160-325C>G (n.3160-325C>G) n.3553C>G c.3367C>G (p.Pro1123Ala) c.3322C>G (p.Pro1108Ala) c.3277C>G (p.Pro1093Ala) c.3346C>G (p.Pro1116Ala) c.3331C>G (p.Pro1111Ala) c.3310C>G (p.Pro1104Ala) c.3304C>G (p.Pro1102Ala) c.3259C>G (p.Pro1087Ala) c.3250C>G (p.Pro1084Ala) c.3226C>G (p.Pro1076Ala) c.3220C>G (p.Pro1074Ala) c.3193C>G (p.Pro1065Ala) c.3187C>G (p.Pro1063Ala) c.3181C>G (p.Pro1061Ala) c.3142C>G (p.Pro1048Ala) c.3130C>G (p.Pro1044Ala) c.3073C>G (p.Pro1025Ala) c.3049C>G (p.Pro1017Ala) c.3043C>G (p.Pro1015Ala) c.3025C>G (p.Pro1009Ala) c.2971C>G (p.Pro991Ala) c.3118-325C>G (n.3118-325C>G) c.2278C>G (p.Pro760Ala) c.2191C>G (p.Pro731Ala) n.3467C>G | dbSNP ExAC gnomAD v2 |
17 | g.39727364C>T | CA399310397 | ERBB2 | c.3229C>T (p.Pro1077Ser) c.3139C>T (p.Pro1047Ser) c.2401C>T (p.Pro801Ser) c.3184C>T (p.Pro1062Ser) c.*3019C>T (n.*3019C>T) c.3160-325C>T (n.3160-325C>T) n.3553C>T c.3367C>T (p.Pro1123Ser) c.3322C>T (p.Pro1108Ser) c.3277C>T (p.Pro1093Ser) c.3346C>T (p.Pro1116Ser) c.3331C>T (p.Pro1111Ser) c.3310C>T (p.Pro1104Ser) c.3304C>T (p.Pro1102Ser) c.3259C>T (p.Pro1087Ser) c.3250C>T (p.Pro1084Ser) c.3226C>T (p.Pro1076Ser) c.3220C>T (p.Pro1074Ser) c.3193C>T (p.Pro1065Ser) c.3187C>T (p.Pro1063Ser) c.3181C>T (p.Pro1061Ser) c.3142C>T (p.Pro1048Ser) c.3130C>T (p.Pro1044Ser) c.3073C>T (p.Pro1025Ser) c.3049C>T (p.Pro1017Ser) c.3043C>T (p.Pro1015Ser) c.3025C>T (p.Pro1009Ser) c.2971C>T (p.Pro991Ser) c.3118-325C>T (n.3118-325C>T) c.2278C>T (p.Pro760Ser) c.2191C>T (p.Pro731Ser) n.3467C>T | dbSNP |
17 | g.39727365C>A | CA399310402 | ERBB2 | c.3230C>A (p.Pro1077His) c.3140C>A (p.Pro1047His) c.2402C>A (p.Pro801His) c.3185C>A (p.Pro1062His) c.*3020C>A (n.*3020C>A) c.3160-324C>A (n.3160-324C>A) n.3554C>A c.3368C>A (p.Pro1123His) c.3323C>A (p.Pro1108His) c.3278C>A (p.Pro1093His) c.3347C>A (p.Pro1116His) c.3332C>A (p.Pro1111His) c.3311C>A (p.Pro1104His) c.3305C>A (p.Pro1102His) c.3260C>A (p.Pro1087His) c.3251C>A (p.Pro1084His) c.3227C>A (p.Pro1076His) c.3221C>A (p.Pro1074His) c.3194C>A (p.Pro1065His) c.3188C>A (p.Pro1063His) c.3182C>A (p.Pro1061His) c.3143C>A (p.Pro1048His) c.3131C>A (p.Pro1044His) c.3074C>A (p.Pro1025His) c.3050C>A (p.Pro1017His) c.3044C>A (p.Pro1015His) c.3026C>A (p.Pro1009His) c.2972C>A (p.Pro991His) c.3118-324C>A (n.3118-324C>A) c.2279C>A (p.Pro760His) c.2192C>A (p.Pro731His) n.3468C>A | dbSNP gnomAD v4 |
17 | g.39727365C= | CA2259228719 | ERBB2 | c.3230C= (p.Pro1077=) c.3140C= (p.Pro1047=) c.2402C= (p.Pro801=) c.3185C= (p.Pro1062=) c.*3020C= (n.*3020C=) c.3160-324C= (n.3160-324C=) n.3554C= c.3368C= (p.Pro1123=) c.3323C= (p.Pro1108=) c.3278C= (p.Pro1093=) c.3347C= (p.Pro1116=) c.3332C= (p.Pro1111=) c.3311C= (p.Pro1104=) c.3305C= (p.Pro1102=) c.3260C= (p.Pro1087=) c.3251C= (p.Pro1084=) c.3227C= (p.Pro1076=) c.3221C= (p.Pro1074=) c.3194C= (p.Pro1065=) c.3188C= (p.Pro1063=) c.3182C= (p.Pro1061=) c.3143C= (p.Pro1048=) c.3131C= (p.Pro1044=) c.3074C= (p.Pro1025=) c.3050C= (p.Pro1017=) c.3044C= (p.Pro1015=) c.3026C= (p.Pro1009=) c.2972C= (p.Pro991=) c.3118-324C= (n.3118-324C=) c.2279C= (p.Pro760=) c.2192C= (p.Pro731=) n.3468C= | |
17 | g.39727365C>G | CA399310403 | ERBB2 | c.3230C>G (p.Pro1077Arg) c.3140C>G (p.Pro1047Arg) c.2402C>G (p.Pro801Arg) c.3185C>G (p.Pro1062Arg) c.*3020C>G (n.*3020C>G) c.3160-324C>G (n.3160-324C>G) n.3554C>G c.3368C>G (p.Pro1123Arg) c.3323C>G (p.Pro1108Arg) c.3278C>G (p.Pro1093Arg) c.3347C>G (p.Pro1116Arg) c.3332C>G (p.Pro1111Arg) c.3311C>G (p.Pro1104Arg) c.3305C>G (p.Pro1102Arg) c.3260C>G (p.Pro1087Arg) c.3251C>G (p.Pro1084Arg) c.3227C>G (p.Pro1076Arg) c.3221C>G (p.Pro1074Arg) c.3194C>G (p.Pro1065Arg) c.3188C>G (p.Pro1063Arg) c.3182C>G (p.Pro1061Arg) c.3143C>G (p.Pro1048Arg) c.3131C>G (p.Pro1044Arg) c.3074C>G (p.Pro1025Arg) c.3050C>G (p.Pro1017Arg) c.3044C>G (p.Pro1015Arg) c.3026C>G (p.Pro1009Arg) c.2972C>G (p.Pro991Arg) c.3118-324C>G (n.3118-324C>G) c.2279C>G (p.Pro760Arg) c.2192C>G (p.Pro731Arg) n.3468C>G | dbSNP |
17 | g.39727365C>T | CA399310407 | ERBB2 | c.3230C>T (p.Pro1077Leu) c.3140C>T (p.Pro1047Leu) c.2402C>T (p.Pro801Leu) c.3185C>T (p.Pro1062Leu) c.*3020C>T (n.*3020C>T) c.3160-324C>T (n.3160-324C>T) n.3554C>T c.3368C>T (p.Pro1123Leu) c.3323C>T (p.Pro1108Leu) c.3278C>T (p.Pro1093Leu) c.3347C>T (p.Pro1116Leu) c.3332C>T (p.Pro1111Leu) c.3311C>T (p.Pro1104Leu) c.3305C>T (p.Pro1102Leu) c.3260C>T (p.Pro1087Leu) c.3251C>T (p.Pro1084Leu) c.3227C>T (p.Pro1076Leu) c.3221C>T (p.Pro1074Leu) c.3194C>T (p.Pro1065Leu) c.3188C>T (p.Pro1063Leu) c.3182C>T (p.Pro1061Leu) c.3143C>T (p.Pro1048Leu) c.3131C>T (p.Pro1044Leu) c.3074C>T (p.Pro1025Leu) c.3050C>T (p.Pro1017Leu) c.3044C>T (p.Pro1015Leu) c.3026C>T (p.Pro1009Leu) c.2972C>T (p.Pro991Leu) c.3118-324C>T (n.3118-324C>T) c.2279C>T (p.Pro760Leu) c.2192C>T (p.Pro731Leu) n.3468C>T | dbSNP |
17 | g.39727366C>A | CA499671626 | ERBB2 | c.3231C>A (p.Pro1077=) c.3141C>A (p.Pro1047=) c.2403C>A (p.Pro801=) c.3186C>A (p.Pro1062=) c.*3021C>A (n.*3021C>A) c.3160-323C>A (n.3160-323C>A) n.3555C>A c.3369C>A (p.Pro1123=) c.3324C>A (p.Pro1108=) c.3279C>A (p.Pro1093=) c.3348C>A (p.Pro1116=) c.3333C>A (p.Pro1111=) c.3312C>A (p.Pro1104=) c.3306C>A (p.Pro1102=) c.3261C>A (p.Pro1087=) c.3252C>A (p.Pro1084=) c.3228C>A (p.Pro1076=) c.3222C>A (p.Pro1074=) c.3195C>A (p.Pro1065=) c.3189C>A (p.Pro1063=) c.3183C>A (p.Pro1061=) c.3144C>A (p.Pro1048=) c.3132C>A (p.Pro1044=) c.3075C>A (p.Pro1025=) c.3051C>A (p.Pro1017=) c.3045C>A (p.Pro1015=) c.3027C>A (p.Pro1009=) c.2973C>A (p.Pro991=) c.3118-323C>A (n.3118-323C>A) c.2280C>A (p.Pro760=) c.2193C>A (p.Pro731=) n.3469C>A | |
17 | g.39727366C>G | CA499671624 | ERBB2 | c.3231C>G (p.Pro1077=) c.3141C>G (p.Pro1047=) c.2403C>G (p.Pro801=) c.3186C>G (p.Pro1062=) c.*3021C>G (n.*3021C>G) c.3160-323C>G (n.3160-323C>G) n.3555C>G c.3369C>G (p.Pro1123=) c.3324C>G (p.Pro1108=) c.3279C>G (p.Pro1093=) c.3348C>G (p.Pro1116=) c.3333C>G (p.Pro1111=) c.3312C>G (p.Pro1104=) c.3306C>G (p.Pro1102=) c.3261C>G (p.Pro1087=) c.3252C>G (p.Pro1084=) c.3228C>G (p.Pro1076=) c.3222C>G (p.Pro1074=) c.3195C>G (p.Pro1065=) c.3189C>G (p.Pro1063=) c.3183C>G (p.Pro1061=) c.3144C>G (p.Pro1048=) c.3132C>G (p.Pro1044=) c.3075C>G (p.Pro1025=) c.3051C>G (p.Pro1017=) c.3045C>G (p.Pro1015=) c.3027C>G (p.Pro1009=) c.2973C>G (p.Pro991=) c.3118-323C>G (n.3118-323C>G) c.2280C>G (p.Pro760=) c.2193C>G (p.Pro731=) n.3469C>G | |
17 | g.39727366C>T | CA499671625 | ERBB2 | c.3231C>T (p.Pro1077=) c.3141C>T (p.Pro1047=) c.2403C>T (p.Pro801=) c.3186C>T (p.Pro1062=) c.*3021C>T (n.*3021C>T) c.3160-323C>T (n.3160-323C>T) n.3555C>T c.3369C>T (p.Pro1123=) c.3324C>T (p.Pro1108=) c.3279C>T (p.Pro1093=) c.3348C>T (p.Pro1116=) c.3333C>T (p.Pro1111=) c.3312C>T (p.Pro1104=) c.3306C>T (p.Pro1102=) c.3261C>T (p.Pro1087=) c.3252C>T (p.Pro1084=) c.3228C>T (p.Pro1076=) c.3222C>T (p.Pro1074=) c.3195C>T (p.Pro1065=) c.3189C>T (p.Pro1063=) c.3183C>T (p.Pro1061=) c.3144C>T (p.Pro1048=) c.3132C>T (p.Pro1044=) c.3075C>T (p.Pro1025=) c.3051C>T (p.Pro1017=) c.3045C>T (p.Pro1015=) c.3027C>T (p.Pro1009=) c.2973C>T (p.Pro991=) c.3118-323C>T (n.3118-323C>T) c.2280C>T (p.Pro760=) c.2193C>T (p.Pro731=) n.3469C>T | |
17 | g.39727367T>A | CA399310411 | ERBB2 | c.3232T>A (p.Ser1078Thr) c.3142T>A (p.Ser1048Thr) c.2404T>A (p.Ser802Thr) c.3187T>A (p.Ser1063Thr) c.*3022T>A (n.*3022T>A) c.3160-322T>A (n.3160-322T>A) n.3556T>A c.3370T>A (p.Ser1124Thr) c.3325T>A (p.Ser1109Thr) c.3280T>A (p.Ser1094Thr) c.3349T>A (p.Ser1117Thr) c.3334T>A (p.Ser1112Thr) c.3313T>A (p.Ser1105Thr) c.3307T>A (p.Ser1103Thr) c.3262T>A (p.Ser1088Thr) c.3253T>A (p.Ser1085Thr) c.3229T>A (p.Ser1077Thr) c.3223T>A (p.Ser1075Thr) c.3196T>A (p.Ser1066Thr) c.3190T>A (p.Ser1064Thr) c.3184T>A (p.Ser1062Thr) c.3145T>A (p.Ser1049Thr) c.3133T>A (p.Ser1045Thr) c.3076T>A (p.Ser1026Thr) c.3052T>A (p.Ser1018Thr) c.3046T>A (p.Ser1016Thr) c.3028T>A (p.Ser1010Thr) c.2974T>A (p.Ser992Thr) c.3118-322T>A (n.3118-322T>A) c.2281T>A (p.Ser761Thr) c.2194T>A (p.Ser732Thr) n.3470T>A | dbSNP |
17 | g.39727367T>C | CA399310414 | ERBB2 | c.3232T>C (p.Ser1078Pro) c.3142T>C (p.Ser1048Pro) c.2404T>C (p.Ser802Pro) c.3187T>C (p.Ser1063Pro) c.*3022T>C (n.*3022T>C) c.3160-322T>C (n.3160-322T>C) n.3556T>C c.3370T>C (p.Ser1124Pro) c.3325T>C (p.Ser1109Pro) c.3280T>C (p.Ser1094Pro) c.3349T>C (p.Ser1117Pro) c.3334T>C (p.Ser1112Pro) c.3313T>C (p.Ser1105Pro) c.3307T>C (p.Ser1103Pro) c.3262T>C (p.Ser1088Pro) c.3253T>C (p.Ser1085Pro) c.3229T>C (p.Ser1077Pro) c.3223T>C (p.Ser1075Pro) c.3196T>C (p.Ser1066Pro) c.3190T>C (p.Ser1064Pro) c.3184T>C (p.Ser1062Pro) c.3145T>C (p.Ser1049Pro) c.3133T>C (p.Ser1045Pro) c.3076T>C (p.Ser1026Pro) c.3052T>C (p.Ser1018Pro) c.3046T>C (p.Ser1016Pro) c.3028T>C (p.Ser1010Pro) c.2974T>C (p.Ser992Pro) c.3118-322T>C (n.3118-322T>C) c.2281T>C (p.Ser761Pro) c.2194T>C (p.Ser732Pro) n.3470T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727367T>G | CA399310415 | ERBB2 | c.3232T>G (p.Ser1078Ala) c.3142T>G (p.Ser1048Ala) c.2404T>G (p.Ser802Ala) c.3187T>G (p.Ser1063Ala) c.*3022T>G (n.*3022T>G) c.3160-322T>G (n.3160-322T>G) n.3556T>G c.3370T>G (p.Ser1124Ala) c.3325T>G (p.Ser1109Ala) c.3280T>G (p.Ser1094Ala) c.3349T>G (p.Ser1117Ala) c.3334T>G (p.Ser1112Ala) c.3313T>G (p.Ser1105Ala) c.3307T>G (p.Ser1103Ala) c.3262T>G (p.Ser1088Ala) c.3253T>G (p.Ser1085Ala) c.3229T>G (p.Ser1077Ala) c.3223T>G (p.Ser1075Ala) c.3196T>G (p.Ser1066Ala) c.3190T>G (p.Ser1064Ala) c.3184T>G (p.Ser1062Ala) c.3145T>G (p.Ser1049Ala) c.3133T>G (p.Ser1045Ala) c.3076T>G (p.Ser1026Ala) c.3052T>G (p.Ser1018Ala) c.3046T>G (p.Ser1016Ala) c.3028T>G (p.Ser1010Ala) c.2974T>G (p.Ser992Ala) c.3118-322T>G (n.3118-322T>G) c.2281T>G (p.Ser761Ala) c.2194T>G (p.Ser732Ala) n.3470T>G | |
17 | g.39727367T= | CA2259228726 | ERBB2 | c.3232T= (p.Ser1078=) c.3142T= (p.Ser1048=) c.2404T= (p.Ser802=) c.3187T= (p.Ser1063=) c.*3022T= (n.*3022T=) c.3160-322T= (n.3160-322T=) n.3556T= c.3370T= (p.Ser1124=) c.3325T= (p.Ser1109=) c.3280T= (p.Ser1094=) c.3349T= (p.Ser1117=) c.3334T= (p.Ser1112=) c.3313T= (p.Ser1105=) c.3307T= (p.Ser1103=) c.3262T= (p.Ser1088=) c.3253T= (p.Ser1085=) c.3229T= (p.Ser1077=) c.3223T= (p.Ser1075=) c.3196T= (p.Ser1066=) c.3190T= (p.Ser1064=) c.3184T= (p.Ser1062=) c.3145T= (p.Ser1049=) c.3133T= (p.Ser1045=) c.3076T= (p.Ser1026=) c.3052T= (p.Ser1018=) c.3046T= (p.Ser1016=) c.3028T= (p.Ser1010=) c.2974T= (p.Ser992=) c.3118-322T= (n.3118-322T=) c.2281T= (p.Ser761=) c.2194T= (p.Ser732=) n.3470T= | |
17 | g.39727368C>A | CA399310421 | ERBB2 | c.3233C>A (p.Ser1078Tyr) c.3143C>A (p.Ser1048Tyr) c.2405C>A (p.Ser802Tyr) c.3188C>A (p.Ser1063Tyr) c.*3023C>A (n.*3023C>A) c.3160-321C>A (n.3160-321C>A) n.3557C>A c.3371C>A (p.Ser1124Tyr) c.3326C>A (p.Ser1109Tyr) c.3281C>A (p.Ser1094Tyr) c.3350C>A (p.Ser1117Tyr) c.3335C>A (p.Ser1112Tyr) c.3314C>A (p.Ser1105Tyr) c.3308C>A (p.Ser1103Tyr) c.3263C>A (p.Ser1088Tyr) c.3254C>A (p.Ser1085Tyr) c.3230C>A (p.Ser1077Tyr) c.3224C>A (p.Ser1075Tyr) c.3197C>A (p.Ser1066Tyr) c.3191C>A (p.Ser1064Tyr) c.3185C>A (p.Ser1062Tyr) c.3146C>A (p.Ser1049Tyr) c.3134C>A (p.Ser1045Tyr) c.3077C>A (p.Ser1026Tyr) c.3053C>A (p.Ser1018Tyr) c.3047C>A (p.Ser1016Tyr) c.3029C>A (p.Ser1010Tyr) c.2975C>A (p.Ser992Tyr) c.3118-321C>A (n.3118-321C>A) c.2282C>A (p.Ser761Tyr) c.2195C>A (p.Ser732Tyr) n.3471C>A | dbSNP |
17 | g.39727368C= | CA2259228729 | ERBB2 | c.3233C= (p.Ser1078=) c.3143C= (p.Ser1048=) c.2405C= (p.Ser802=) c.3188C= (p.Ser1063=) c.*3023C= (n.*3023C=) c.3160-321C= (n.3160-321C=) n.3557C= c.3371C= (p.Ser1124=) c.3326C= (p.Ser1109=) c.3281C= (p.Ser1094=) c.3350C= (p.Ser1117=) c.3335C= (p.Ser1112=) c.3314C= (p.Ser1105=) c.3308C= (p.Ser1103=) c.3263C= (p.Ser1088=) c.3254C= (p.Ser1085=) c.3230C= (p.Ser1077=) c.3224C= (p.Ser1075=) c.3197C= (p.Ser1066=) c.3191C= (p.Ser1064=) c.3185C= (p.Ser1062=) c.3146C= (p.Ser1049=) c.3134C= (p.Ser1045=) c.3077C= (p.Ser1026=) c.3053C= (p.Ser1018=) c.3047C= (p.Ser1016=) c.3029C= (p.Ser1010=) c.2975C= (p.Ser992=) c.3118-321C= (n.3118-321C=) c.2282C= (p.Ser761=) c.2195C= (p.Ser732=) n.3471C= | |
17 | g.39727368C>G | CA399310419 | ERBB2 | c.3233C>G (p.Ser1078Cys) c.3143C>G (p.Ser1048Cys) c.2405C>G (p.Ser802Cys) c.3188C>G (p.Ser1063Cys) c.*3023C>G (n.*3023C>G) c.3160-321C>G (n.3160-321C>G) n.3557C>G c.3371C>G (p.Ser1124Cys) c.3326C>G (p.Ser1109Cys) c.3281C>G (p.Ser1094Cys) c.3350C>G (p.Ser1117Cys) c.3335C>G (p.Ser1112Cys) c.3314C>G (p.Ser1105Cys) c.3308C>G (p.Ser1103Cys) c.3263C>G (p.Ser1088Cys) c.3254C>G (p.Ser1085Cys) c.3230C>G (p.Ser1077Cys) c.3224C>G (p.Ser1075Cys) c.3197C>G (p.Ser1066Cys) c.3191C>G (p.Ser1064Cys) c.3185C>G (p.Ser1062Cys) c.3146C>G (p.Ser1049Cys) c.3134C>G (p.Ser1045Cys) c.3077C>G (p.Ser1026Cys) c.3053C>G (p.Ser1018Cys) c.3047C>G (p.Ser1016Cys) c.3029C>G (p.Ser1010Cys) c.2975C>G (p.Ser992Cys) c.3118-321C>G (n.3118-321C>G) c.2282C>G (p.Ser761Cys) c.2195C>G (p.Ser732Cys) n.3471C>G | dbSNP |
17 | g.39727368C>T | CA290443205 | ERBB2 | c.3233C>T (p.Ser1078Phe) c.3143C>T (p.Ser1048Phe) c.2405C>T (p.Ser802Phe) c.3188C>T (p.Ser1063Phe) c.*3023C>T (n.*3023C>T) c.3160-321C>T (n.3160-321C>T) n.3557C>T c.3371C>T (p.Ser1124Phe) c.3326C>T (p.Ser1109Phe) c.3281C>T (p.Ser1094Phe) c.3350C>T (p.Ser1117Phe) c.3335C>T (p.Ser1112Phe) c.3314C>T (p.Ser1105Phe) c.3308C>T (p.Ser1103Phe) c.3263C>T (p.Ser1088Phe) c.3254C>T (p.Ser1085Phe) c.3230C>T (p.Ser1077Phe) c.3224C>T (p.Ser1075Phe) c.3197C>T (p.Ser1066Phe) c.3191C>T (p.Ser1064Phe) c.3185C>T (p.Ser1062Phe) c.3146C>T (p.Ser1049Phe) c.3134C>T (p.Ser1045Phe) c.3077C>T (p.Ser1026Phe) c.3053C>T (p.Ser1018Phe) c.3047C>T (p.Ser1016Phe) c.3029C>T (p.Ser1010Phe) c.2975C>T (p.Ser992Phe) c.3118-321C>T (n.3118-321C>T) c.2282C>T (p.Ser761Phe) c.2195C>T (p.Ser732Phe) n.3471C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727369C>A | CA499671627 | ERBB2 | c.3234C>A (p.Ser1078=) c.3144C>A (p.Ser1048=) c.2406C>A (p.Ser802=) c.3189C>A (p.Ser1063=) c.*3024C>A (n.*3024C>A) c.3160-320C>A (n.3160-320C>A) n.3558C>A c.3372C>A (p.Ser1124=) c.3327C>A (p.Ser1109=) c.3282C>A (p.Ser1094=) c.3351C>A (p.Ser1117=) c.3336C>A (p.Ser1112=) c.3315C>A (p.Ser1105=) c.3309C>A (p.Ser1103=) c.3264C>A (p.Ser1088=) c.3255C>A (p.Ser1085=) c.3231C>A (p.Ser1077=) c.3225C>A (p.Ser1075=) c.3198C>A (p.Ser1066=) c.3192C>A (p.Ser1064=) c.3186C>A (p.Ser1062=) c.3147C>A (p.Ser1049=) c.3135C>A (p.Ser1045=) c.3078C>A (p.Ser1026=) c.3054C>A (p.Ser1018=) c.3048C>A (p.Ser1016=) c.3030C>A (p.Ser1010=) c.2976C>A (p.Ser992=) c.3118-320C>A (n.3118-320C>A) c.2283C>A (p.Ser761=) c.2196C>A (p.Ser732=) n.3472C>A | dbSNP |
17 | g.39727369C= | CA2259228731 | ERBB2 | c.3234C= (p.Ser1078=) c.3144C= (p.Ser1048=) c.2406C= (p.Ser802=) c.3189C= (p.Ser1063=) c.*3024C= (n.*3024C=) c.3160-320C= (n.3160-320C=) n.3558C= c.3372C= (p.Ser1124=) c.3327C= (p.Ser1109=) c.3282C= (p.Ser1094=) c.3351C= (p.Ser1117=) c.3336C= (p.Ser1112=) c.3315C= (p.Ser1105=) c.3309C= (p.Ser1103=) c.3264C= (p.Ser1088=) c.3255C= (p.Ser1085=) c.3231C= (p.Ser1077=) c.3225C= (p.Ser1075=) c.3198C= (p.Ser1066=) c.3192C= (p.Ser1064=) c.3186C= (p.Ser1062=) c.3147C= (p.Ser1049=) c.3135C= (p.Ser1045=) c.3078C= (p.Ser1026=) c.3054C= (p.Ser1018=) c.3048C= (p.Ser1016=) c.3030C= (p.Ser1010=) c.2976C= (p.Ser992=) c.3118-320C= (n.3118-320C=) c.2283C= (p.Ser761=) c.2196C= (p.Ser732=) n.3472C= | |
17 | g.39727369C>G | CA499671628 | ERBB2 | c.3234C>G (p.Ser1078=) c.3144C>G (p.Ser1048=) c.2406C>G (p.Ser802=) c.3189C>G (p.Ser1063=) c.*3024C>G (n.*3024C>G) c.3160-320C>G (n.3160-320C>G) n.3558C>G c.3372C>G (p.Ser1124=) c.3327C>G (p.Ser1109=) c.3282C>G (p.Ser1094=) c.3351C>G (p.Ser1117=) c.3336C>G (p.Ser1112=) c.3315C>G (p.Ser1105=) c.3309C>G (p.Ser1103=) c.3264C>G (p.Ser1088=) c.3255C>G (p.Ser1085=) c.3231C>G (p.Ser1077=) c.3225C>G (p.Ser1075=) c.3198C>G (p.Ser1066=) c.3192C>G (p.Ser1064=) c.3186C>G (p.Ser1062=) c.3147C>G (p.Ser1049=) c.3135C>G (p.Ser1045=) c.3078C>G (p.Ser1026=) c.3054C>G (p.Ser1018=) c.3048C>G (p.Ser1016=) c.3030C>G (p.Ser1010=) c.2976C>G (p.Ser992=) c.3118-320C>G (n.3118-320C>G) c.2283C>G (p.Ser761=) c.2196C>G (p.Ser732=) n.3472C>G | dbSNP |
17 | g.39727369C>T | CA8534506 | ERBB2 | c.3234C>T (p.Ser1078=) c.3144C>T (p.Ser1048=) c.2406C>T (p.Ser802=) c.3189C>T (p.Ser1063=) c.*3024C>T (n.*3024C>T) c.3160-320C>T (n.3160-320C>T) n.3558C>T c.3372C>T (p.Ser1124=) c.3327C>T (p.Ser1109=) c.3282C>T (p.Ser1094=) c.3351C>T (p.Ser1117=) c.3336C>T (p.Ser1112=) c.3315C>T (p.Ser1105=) c.3309C>T (p.Ser1103=) c.3264C>T (p.Ser1088=) c.3255C>T (p.Ser1085=) c.3231C>T (p.Ser1077=) c.3225C>T (p.Ser1075=) c.3198C>T (p.Ser1066=) c.3192C>T (p.Ser1064=) c.3186C>T (p.Ser1062=) c.3147C>T (p.Ser1049=) c.3135C>T (p.Ser1045=) c.3078C>T (p.Ser1026=) c.3054C>T (p.Ser1018=) c.3048C>T (p.Ser1016=) c.3030C>T (p.Ser1010=) c.2976C>T (p.Ser992=) c.3118-320C>T (n.3118-320C>T) c.2283C>T (p.Ser761=) c.2196C>T (p.Ser732=) n.3472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727370G>A | CA290443227 | ERBB2 | c.3235G>A (p.Glu1079Lys) c.3145G>A (p.Glu1049Lys) c.2407G>A (p.Glu803Lys) c.3190G>A (p.Glu1064Lys) c.*3025G>A (n.*3025G>A) c.3160-319G>A (n.3160-319G>A) n.3559G>A c.3373G>A (p.Glu1125Lys) c.3328G>A (p.Glu1110Lys) c.3283G>A (p.Glu1095Lys) c.3352G>A (p.Glu1118Lys) c.3337G>A (p.Glu1113Lys) c.3316G>A (p.Glu1106Lys) c.3310G>A (p.Glu1104Lys) c.3265G>A (p.Glu1089Lys) c.3256G>A (p.Glu1086Lys) c.3232G>A (p.Glu1078Lys) c.3226G>A (p.Glu1076Lys) c.3199G>A (p.Glu1067Lys) c.3193G>A (p.Glu1065Lys) c.3187G>A (p.Glu1063Lys) c.3148G>A (p.Glu1050Lys) c.3136G>A (p.Glu1046Lys) c.3079G>A (p.Glu1027Lys) c.3055G>A (p.Glu1019Lys) c.3049G>A (p.Glu1017Lys) c.3031G>A (p.Glu1011Lys) c.2977G>A (p.Glu993Lys) c.3118-319G>A (n.3118-319G>A) c.2284G>A (p.Glu762Lys) c.2197G>A (p.Glu733Lys) n.3473G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39727370G>C | CA399310431 | ERBB2 | c.3235G>C (p.Glu1079Gln) c.3145G>C (p.Glu1049Gln) c.2407G>C (p.Glu803Gln) c.3190G>C (p.Glu1064Gln) c.*3025G>C (n.*3025G>C) c.3160-319G>C (n.3160-319G>C) n.3559G>C c.3373G>C (p.Glu1125Gln) c.3328G>C (p.Glu1110Gln) c.3283G>C (p.Glu1095Gln) c.3352G>C (p.Glu1118Gln) c.3337G>C (p.Glu1113Gln) c.3316G>C (p.Glu1106Gln) c.3310G>C (p.Glu1104Gln) c.3265G>C (p.Glu1089Gln) c.3256G>C (p.Glu1086Gln) c.3232G>C (p.Glu1078Gln) c.3226G>C (p.Glu1076Gln) c.3199G>C (p.Glu1067Gln) c.3193G>C (p.Glu1065Gln) c.3187G>C (p.Glu1063Gln) c.3148G>C (p.Glu1050Gln) c.3136G>C (p.Glu1046Gln) c.3079G>C (p.Glu1027Gln) c.3055G>C (p.Glu1019Gln) c.3049G>C (p.Glu1017Gln) c.3031G>C (p.Glu1011Gln) c.2977G>C (p.Glu993Gln) c.3118-319G>C (n.3118-319G>C) c.2284G>C (p.Glu762Gln) c.2197G>C (p.Glu733Gln) n.3473G>C | dbSNP |
17 | g.39727370G= | CA2259228733 | ERBB2 | c.3235G= (p.Glu1079=) c.3145G= (p.Glu1049=) c.2407G= (p.Glu803=) c.3190G= (p.Glu1064=) c.*3025G= (n.*3025G=) c.3160-319G= (n.3160-319G=) n.3559G= c.3373G= (p.Glu1125=) c.3328G= (p.Glu1110=) c.3283G= (p.Glu1095=) c.3352G= (p.Glu1118=) c.3337G= (p.Glu1113=) c.3316G= (p.Glu1106=) c.3310G= (p.Glu1104=) c.3265G= (p.Glu1089=) c.3256G= (p.Glu1086=) c.3232G= (p.Glu1078=) c.3226G= (p.Glu1076=) c.3199G= (p.Glu1067=) c.3193G= (p.Glu1065=) c.3187G= (p.Glu1063=) c.3148G= (p.Glu1050=) c.3136G= (p.Glu1046=) c.3079G= (p.Glu1027=) c.3055G= (p.Glu1019=) c.3049G= (p.Glu1017=) c.3031G= (p.Glu1011=) c.2977G= (p.Glu993=) c.3118-319G= (n.3118-319G=) c.2284G= (p.Glu762=) c.2197G= (p.Glu733=) n.3473G= | |
17 | g.39727370G>T | CA399310429 | ERBB2 | c.3235G>T (p.Glu1079Ter) c.3145G>T (p.Glu1049Ter) c.2407G>T (p.Glu803Ter) c.3190G>T (p.Glu1064Ter) c.*3025G>T (n.*3025G>T) c.3160-319G>T (n.3160-319G>T) n.3559G>T c.3373G>T (p.Glu1125Ter) c.3328G>T (p.Glu1110Ter) c.3283G>T (p.Glu1095Ter) c.3352G>T (p.Glu1118Ter) c.3337G>T (p.Glu1113Ter) c.3316G>T (p.Glu1106Ter) c.3310G>T (p.Glu1104Ter) c.3265G>T (p.Glu1089Ter) c.3256G>T (p.Glu1086Ter) c.3232G>T (p.Glu1078Ter) c.3226G>T (p.Glu1076Ter) c.3199G>T (p.Glu1067Ter) c.3193G>T (p.Glu1065Ter) c.3187G>T (p.Glu1063Ter) c.3148G>T (p.Glu1050Ter) c.3136G>T (p.Glu1046Ter) c.3079G>T (p.Glu1027Ter) c.3055G>T (p.Glu1019Ter) c.3049G>T (p.Glu1017Ter) c.3031G>T (p.Glu1011Ter) c.2977G>T (p.Glu993Ter) c.3118-319G>T (n.3118-319G>T) c.2284G>T (p.Glu762Ter) c.2197G>T (p.Glu733Ter) n.3473G>T | dbSNP |
17 | g.39727371A>C | CA399310434 | ERBB2 | c.3236A>C (p.Glu1079Ala) c.3146A>C (p.Glu1049Ala) c.2408A>C (p.Glu803Ala) c.3191A>C (p.Glu1064Ala) c.*3026A>C (n.*3026A>C) c.3160-318A>C (n.3160-318A>C) n.3560A>C c.3374A>C (p.Glu1125Ala) c.3329A>C (p.Glu1110Ala) c.3284A>C (p.Glu1095Ala) c.3353A>C (p.Glu1118Ala) c.3338A>C (p.Glu1113Ala) c.3317A>C (p.Glu1106Ala) c.3311A>C (p.Glu1104Ala) c.3266A>C (p.Glu1089Ala) c.3257A>C (p.Glu1086Ala) c.3233A>C (p.Glu1078Ala) c.3227A>C (p.Glu1076Ala) c.3200A>C (p.Glu1067Ala) c.3194A>C (p.Glu1065Ala) c.3188A>C (p.Glu1063Ala) c.3149A>C (p.Glu1050Ala) c.3137A>C (p.Glu1046Ala) c.3080A>C (p.Glu1027Ala) c.3056A>C (p.Glu1019Ala) c.3050A>C (p.Glu1017Ala) c.3032A>C (p.Glu1011Ala) c.2978A>C (p.Glu993Ala) c.3118-318A>C (n.3118-318A>C) c.2285A>C (p.Glu762Ala) c.2198A>C (p.Glu733Ala) n.3474A>C | dbSNP |
17 | g.39727371A>G | CA399310436 | ERBB2 | c.3236A>G (p.Glu1079Gly) c.3146A>G (p.Glu1049Gly) c.2408A>G (p.Glu803Gly) c.3191A>G (p.Glu1064Gly) c.*3026A>G (n.*3026A>G) c.3160-318A>G (n.3160-318A>G) n.3560A>G c.3374A>G (p.Glu1125Gly) c.3329A>G (p.Glu1110Gly) c.3284A>G (p.Glu1095Gly) c.3353A>G (p.Glu1118Gly) c.3338A>G (p.Glu1113Gly) c.3317A>G (p.Glu1106Gly) c.3311A>G (p.Glu1104Gly) c.3266A>G (p.Glu1089Gly) c.3257A>G (p.Glu1086Gly) c.3233A>G (p.Glu1078Gly) c.3227A>G (p.Glu1076Gly) c.3200A>G (p.Glu1067Gly) c.3194A>G (p.Glu1065Gly) c.3188A>G (p.Glu1063Gly) c.3149A>G (p.Glu1050Gly) c.3137A>G (p.Glu1046Gly) c.3080A>G (p.Glu1027Gly) c.3056A>G (p.Glu1019Gly) c.3050A>G (p.Glu1017Gly) c.3032A>G (p.Glu1011Gly) c.2978A>G (p.Glu993Gly) c.3118-318A>G (n.3118-318A>G) c.2285A>G (p.Glu762Gly) c.2198A>G (p.Glu733Gly) n.3474A>G | dbSNP |
17 | g.39727371A>T | CA399310438 | ERBB2 | c.3236A>T (p.Glu1079Val) c.3146A>T (p.Glu1049Val) c.2408A>T (p.Glu803Val) c.3191A>T (p.Glu1064Val) c.*3026A>T (n.*3026A>T) c.3160-318A>T (n.3160-318A>T) n.3560A>T c.3374A>T (p.Glu1125Val) c.3329A>T (p.Glu1110Val) c.3284A>T (p.Glu1095Val) c.3353A>T (p.Glu1118Val) c.3338A>T (p.Glu1113Val) c.3317A>T (p.Glu1106Val) c.3311A>T (p.Glu1104Val) c.3266A>T (p.Glu1089Val) c.3257A>T (p.Glu1086Val) c.3233A>T (p.Glu1078Val) c.3227A>T (p.Glu1076Val) c.3200A>T (p.Glu1067Val) c.3194A>T (p.Glu1065Val) c.3188A>T (p.Glu1063Val) c.3149A>T (p.Glu1050Val) c.3137A>T (p.Glu1046Val) c.3080A>T (p.Glu1027Val) c.3056A>T (p.Glu1019Val) c.3050A>T (p.Glu1017Val) c.3032A>T (p.Glu1011Val) c.2978A>T (p.Glu993Val) c.3118-318A>T (n.3118-318A>T) c.2285A>T (p.Glu762Val) c.2198A>T (p.Glu733Val) n.3474A>T | dbSNP |
17 | g.39727372A>C | CA399310440 | ERBB2 | c.3237A>C (p.Glu1079Asp) c.3147A>C (p.Glu1049Asp) c.2409A>C (p.Glu803Asp) c.3192A>C (p.Glu1064Asp) c.*3027A>C (n.*3027A>C) c.3160-317A>C (n.3160-317A>C) n.3561A>C c.3375A>C (p.Glu1125Asp) c.3330A>C (p.Glu1110Asp) c.3285A>C (p.Glu1095Asp) c.3354A>C (p.Glu1118Asp) c.3339A>C (p.Glu1113Asp) c.3318A>C (p.Glu1106Asp) c.3312A>C (p.Glu1104Asp) c.3267A>C (p.Glu1089Asp) c.3258A>C (p.Glu1086Asp) c.3234A>C (p.Glu1078Asp) c.3228A>C (p.Glu1076Asp) c.3201A>C (p.Glu1067Asp) c.3195A>C (p.Glu1065Asp) c.3189A>C (p.Glu1063Asp) c.3150A>C (p.Glu1050Asp) c.3138A>C (p.Glu1046Asp) c.3081A>C (p.Glu1027Asp) c.3057A>C (p.Glu1019Asp) c.3051A>C (p.Glu1017Asp) c.3033A>C (p.Glu1011Asp) c.2979A>C (p.Glu993Asp) c.3118-317A>C (n.3118-317A>C) c.2286A>C (p.Glu762Asp) c.2199A>C (p.Glu733Asp) n.3475A>C | |
17 | g.39727372A>G | CA499671629 | ERBB2 | c.3237A>G (p.Glu1079=) c.3147A>G (p.Glu1049=) c.2409A>G (p.Glu803=) c.3192A>G (p.Glu1064=) c.*3027A>G (n.*3027A>G) c.3160-317A>G (n.3160-317A>G) n.3561A>G c.3375A>G (p.Glu1125=) c.3330A>G (p.Glu1110=) c.3285A>G (p.Glu1095=) c.3354A>G (p.Glu1118=) c.3339A>G (p.Glu1113=) c.3318A>G (p.Glu1106=) c.3312A>G (p.Glu1104=) c.3267A>G (p.Glu1089=) c.3258A>G (p.Glu1086=) c.3234A>G (p.Glu1078=) c.3228A>G (p.Glu1076=) c.3201A>G (p.Glu1067=) c.3195A>G (p.Glu1065=) c.3189A>G (p.Glu1063=) c.3150A>G (p.Glu1050=) c.3138A>G (p.Glu1046=) c.3081A>G (p.Glu1027=) c.3057A>G (p.Glu1019=) c.3051A>G (p.Glu1017=) c.3033A>G (p.Glu1011=) c.2979A>G (p.Glu993=) c.3118-317A>G (n.3118-317A>G) c.2286A>G (p.Glu762=) c.2199A>G (p.Glu733=) n.3475A>G | |
17 | g.39727372A>T | CA399310442 | ERBB2 | c.3237A>T (p.Glu1079Asp) c.3147A>T (p.Glu1049Asp) c.2409A>T (p.Glu803Asp) c.3192A>T (p.Glu1064Asp) c.*3027A>T (n.*3027A>T) c.3160-317A>T (n.3160-317A>T) n.3561A>T c.3375A>T (p.Glu1125Asp) c.3330A>T (p.Glu1110Asp) c.3285A>T (p.Glu1095Asp) c.3354A>T (p.Glu1118Asp) c.3339A>T (p.Glu1113Asp) c.3318A>T (p.Glu1106Asp) c.3312A>T (p.Glu1104Asp) c.3267A>T (p.Glu1089Asp) c.3258A>T (p.Glu1086Asp) c.3234A>T (p.Glu1078Asp) c.3228A>T (p.Glu1076Asp) c.3201A>T (p.Glu1067Asp) c.3195A>T (p.Glu1065Asp) c.3189A>T (p.Glu1063Asp) c.3150A>T (p.Glu1050Asp) c.3138A>T (p.Glu1046Asp) c.3081A>T (p.Glu1027Asp) c.3057A>T (p.Glu1019Asp) c.3051A>T (p.Glu1017Asp) c.3033A>T (p.Glu1011Asp) c.2979A>T (p.Glu993Asp) c.3118-317A>T (n.3118-317A>T) c.2286A>T (p.Glu762Asp) c.2199A>T (p.Glu733Asp) n.3475A>T | |
17 | g.39727373G>A | CA399310446 | ERBB2 | c.3238G>A (p.Gly1080Arg) c.3148G>A (p.Gly1050Arg) c.2410G>A (p.Gly804Arg) c.3193G>A (p.Gly1065Arg) c.*3028G>A (n.*3028G>A) c.3160-316G>A (n.3160-316G>A) n.3562G>A c.3376G>A (p.Gly1126Arg) c.3331G>A (p.Gly1111Arg) c.3286G>A (p.Gly1096Arg) c.3355G>A (p.Gly1119Arg) c.3340G>A (p.Gly1114Arg) c.3319G>A (p.Gly1107Arg) c.3313G>A (p.Gly1105Arg) c.3268G>A (p.Gly1090Arg) c.3259G>A (p.Gly1087Arg) c.3235G>A (p.Gly1079Arg) c.3229G>A (p.Gly1077Arg) c.3202G>A (p.Gly1068Arg) c.3196G>A (p.Gly1066Arg) c.3190G>A (p.Gly1064Arg) c.3151G>A (p.Gly1051Arg) c.3139G>A (p.Gly1047Arg) c.3082G>A (p.Gly1028Arg) c.3058G>A (p.Gly1020Arg) c.3052G>A (p.Gly1018Arg) c.3034G>A (p.Gly1012Arg) c.2980G>A (p.Gly994Arg) c.3118-316G>A (n.3118-316G>A) c.2287G>A (p.Gly763Arg) c.2200G>A (p.Gly734Arg) n.3476G>A | dbSNP |
17 | g.39727373G>C | CA399310447 | ERBB2 | c.3238G>C (p.Gly1080Arg) c.3148G>C (p.Gly1050Arg) c.2410G>C (p.Gly804Arg) c.3193G>C (p.Gly1065Arg) c.*3028G>C (n.*3028G>C) c.3160-316G>C (n.3160-316G>C) n.3562G>C c.3376G>C (p.Gly1126Arg) c.3331G>C (p.Gly1111Arg) c.3286G>C (p.Gly1096Arg) c.3355G>C (p.Gly1119Arg) c.3340G>C (p.Gly1114Arg) c.3319G>C (p.Gly1107Arg) c.3313G>C (p.Gly1105Arg) c.3268G>C (p.Gly1090Arg) c.3259G>C (p.Gly1087Arg) c.3235G>C (p.Gly1079Arg) c.3229G>C (p.Gly1077Arg) c.3202G>C (p.Gly1068Arg) c.3196G>C (p.Gly1066Arg) c.3190G>C (p.Gly1064Arg) c.3151G>C (p.Gly1051Arg) c.3139G>C (p.Gly1047Arg) c.3082G>C (p.Gly1028Arg) c.3058G>C (p.Gly1020Arg) c.3052G>C (p.Gly1018Arg) c.3034G>C (p.Gly1012Arg) c.2980G>C (p.Gly994Arg) c.3118-316G>C (n.3118-316G>C) c.2287G>C (p.Gly763Arg) c.2200G>C (p.Gly734Arg) n.3476G>C | dbSNP |
17 | g.39727373G>T | CA399310451 | ERBB2 | c.3238G>T (p.Gly1080Trp) c.3148G>T (p.Gly1050Trp) c.2410G>T (p.Gly804Trp) c.3193G>T (p.Gly1065Trp) c.*3028G>T (n.*3028G>T) c.3160-316G>T (n.3160-316G>T) n.3562G>T c.3376G>T (p.Gly1126Trp) c.3331G>T (p.Gly1111Trp) c.3286G>T (p.Gly1096Trp) c.3355G>T (p.Gly1119Trp) c.3340G>T (p.Gly1114Trp) c.3319G>T (p.Gly1107Trp) c.3313G>T (p.Gly1105Trp) c.3268G>T (p.Gly1090Trp) c.3259G>T (p.Gly1087Trp) c.3235G>T (p.Gly1079Trp) c.3229G>T (p.Gly1077Trp) c.3202G>T (p.Gly1068Trp) c.3196G>T (p.Gly1066Trp) c.3190G>T (p.Gly1064Trp) c.3151G>T (p.Gly1051Trp) c.3139G>T (p.Gly1047Trp) c.3082G>T (p.Gly1028Trp) c.3058G>T (p.Gly1020Trp) c.3052G>T (p.Gly1018Trp) c.3034G>T (p.Gly1012Trp) c.2980G>T (p.Gly994Trp) c.3118-316G>T (n.3118-316G>T) c.2287G>T (p.Gly763Trp) c.2200G>T (p.Gly734Trp) n.3476G>T | dbSNP COSMIC |
17 | g.39727374G>A | CA399310455 | ERBB2 | c.3239G>A (p.Gly1080Glu) c.3149G>A (p.Gly1050Glu) c.2411G>A (p.Gly804Glu) c.3194G>A (p.Gly1065Glu) c.*3029G>A (n.*3029G>A) c.3160-315G>A (n.3160-315G>A) n.3563G>A c.3377G>A (p.Gly1126Glu) c.3332G>A (p.Gly1111Glu) c.3287G>A (p.Gly1096Glu) c.3356G>A (p.Gly1119Glu) c.3341G>A (p.Gly1114Glu) c.3320G>A (p.Gly1107Glu) c.3314G>A (p.Gly1105Glu) c.3269G>A (p.Gly1090Glu) c.3260G>A (p.Gly1087Glu) c.3236G>A (p.Gly1079Glu) c.3230G>A (p.Gly1077Glu) c.3203G>A (p.Gly1068Glu) c.3197G>A (p.Gly1066Glu) c.3191G>A (p.Gly1064Glu) c.3152G>A (p.Gly1051Glu) c.3140G>A (p.Gly1047Glu) c.3083G>A (p.Gly1028Glu) c.3059G>A (p.Gly1020Glu) c.3053G>A (p.Gly1018Glu) c.3035G>A (p.Gly1012Glu) c.2981G>A (p.Gly994Glu) c.3118-315G>A (n.3118-315G>A) c.2288G>A (p.Gly763Glu) c.2201G>A (p.Gly734Glu) n.3477G>A | dbSNP |
17 | g.39727374G>C | CA399310456 | ERBB2 | c.3239G>C (p.Gly1080Ala) c.3149G>C (p.Gly1050Ala) c.2411G>C (p.Gly804Ala) c.3194G>C (p.Gly1065Ala) c.*3029G>C (n.*3029G>C) c.3160-315G>C (n.3160-315G>C) n.3563G>C c.3377G>C (p.Gly1126Ala) c.3332G>C (p.Gly1111Ala) c.3287G>C (p.Gly1096Ala) c.3356G>C (p.Gly1119Ala) c.3341G>C (p.Gly1114Ala) c.3320G>C (p.Gly1107Ala) c.3314G>C (p.Gly1105Ala) c.3269G>C (p.Gly1090Ala) c.3260G>C (p.Gly1087Ala) c.3236G>C (p.Gly1079Ala) c.3230G>C (p.Gly1077Ala) c.3203G>C (p.Gly1068Ala) c.3197G>C (p.Gly1066Ala) c.3191G>C (p.Gly1064Ala) c.3152G>C (p.Gly1051Ala) c.3140G>C (p.Gly1047Ala) c.3083G>C (p.Gly1028Ala) c.3059G>C (p.Gly1020Ala) c.3053G>C (p.Gly1018Ala) c.3035G>C (p.Gly1012Ala) c.2981G>C (p.Gly994Ala) c.3118-315G>C (n.3118-315G>C) c.2288G>C (p.Gly763Ala) c.2201G>C (p.Gly734Ala) n.3477G>C | dbSNP |
17 | g.39727374G>T | CA399310459 | ERBB2 | c.3239G>T (p.Gly1080Val) c.3149G>T (p.Gly1050Val) c.2411G>T (p.Gly804Val) c.3194G>T (p.Gly1065Val) c.*3029G>T (n.*3029G>T) c.3160-315G>T (n.3160-315G>T) n.3563G>T c.3377G>T (p.Gly1126Val) c.3332G>T (p.Gly1111Val) c.3287G>T (p.Gly1096Val) c.3356G>T (p.Gly1119Val) c.3341G>T (p.Gly1114Val) c.3320G>T (p.Gly1107Val) c.3314G>T (p.Gly1105Val) c.3269G>T (p.Gly1090Val) c.3260G>T (p.Gly1087Val) c.3236G>T (p.Gly1079Val) c.3230G>T (p.Gly1077Val) c.3203G>T (p.Gly1068Val) c.3197G>T (p.Gly1066Val) c.3191G>T (p.Gly1064Val) c.3152G>T (p.Gly1051Val) c.3140G>T (p.Gly1047Val) c.3083G>T (p.Gly1028Val) c.3059G>T (p.Gly1020Val) c.3053G>T (p.Gly1018Val) c.3035G>T (p.Gly1012Val) c.2981G>T (p.Gly994Val) c.3118-315G>T (n.3118-315G>T) c.2288G>T (p.Gly763Val) c.2201G>T (p.Gly734Val) n.3477G>T | dbSNP |
17 | g.39727375G>A | CA499671630 | ERBB2 | c.3240G>A (p.Gly1080=) c.3150G>A (p.Gly1050=) c.2412G>A (p.Gly804=) c.3195G>A (p.Gly1065=) c.*3030G>A (n.*3030G>A) c.3160-314G>A (n.3160-314G>A) n.3564G>A c.3378G>A (p.Gly1126=) c.3333G>A (p.Gly1111=) c.3288G>A (p.Gly1096=) c.3357G>A (p.Gly1119=) c.3342G>A (p.Gly1114=) c.3321G>A (p.Gly1107=) c.3315G>A (p.Gly1105=) c.3270G>A (p.Gly1090=) c.3261G>A (p.Gly1087=) c.3237G>A (p.Gly1079=) c.3231G>A (p.Gly1077=) c.3204G>A (p.Gly1068=) c.3198G>A (p.Gly1066=) c.3192G>A (p.Gly1064=) c.3153G>A (p.Gly1051=) c.3141G>A (p.Gly1047=) c.3084G>A (p.Gly1028=) c.3060G>A (p.Gly1020=) c.3054G>A (p.Gly1018=) c.3036G>A (p.Gly1012=) c.2982G>A (p.Gly994=) c.3118-314G>A (n.3118-314G>A) c.2289G>A (p.Gly763=) c.2202G>A (p.Gly734=) n.3478G>A | |
17 | g.39727375G>C | CA499671631 | ERBB2 | c.3240G>C (p.Gly1080=) c.3150G>C (p.Gly1050=) c.2412G>C (p.Gly804=) c.3195G>C (p.Gly1065=) c.*3030G>C (n.*3030G>C) c.3160-314G>C (n.3160-314G>C) n.3564G>C c.3378G>C (p.Gly1126=) c.3333G>C (p.Gly1111=) c.3288G>C (p.Gly1096=) c.3357G>C (p.Gly1119=) c.3342G>C (p.Gly1114=) c.3321G>C (p.Gly1107=) c.3315G>C (p.Gly1105=) c.3270G>C (p.Gly1090=) c.3261G>C (p.Gly1087=) c.3237G>C (p.Gly1079=) c.3231G>C (p.Gly1077=) c.3204G>C (p.Gly1068=) c.3198G>C (p.Gly1066=) c.3192G>C (p.Gly1064=) c.3153G>C (p.Gly1051=) c.3141G>C (p.Gly1047=) c.3084G>C (p.Gly1028=) c.3060G>C (p.Gly1020=) c.3054G>C (p.Gly1018=) c.3036G>C (p.Gly1012=) c.2982G>C (p.Gly994=) c.3118-314G>C (n.3118-314G>C) c.2289G>C (p.Gly763=) c.2202G>C (p.Gly734=) n.3478G>C | dbSNP |
17 | g.39727375G>T | CA499671632 | ERBB2 | c.3240G>T (p.Gly1080=) c.3150G>T (p.Gly1050=) c.2412G>T (p.Gly804=) c.3195G>T (p.Gly1065=) c.*3030G>T (n.*3030G>T) c.3160-314G>T (n.3160-314G>T) n.3564G>T c.3378G>T (p.Gly1126=) c.3333G>T (p.Gly1111=) c.3288G>T (p.Gly1096=) c.3357G>T (p.Gly1119=) c.3342G>T (p.Gly1114=) c.3321G>T (p.Gly1107=) c.3315G>T (p.Gly1105=) c.3270G>T (p.Gly1090=) c.3261G>T (p.Gly1087=) c.3237G>T (p.Gly1079=) c.3231G>T (p.Gly1077=) c.3204G>T (p.Gly1068=) c.3198G>T (p.Gly1066=) c.3192G>T (p.Gly1064=) c.3153G>T (p.Gly1051=) c.3141G>T (p.Gly1047=) c.3084G>T (p.Gly1028=) c.3060G>T (p.Gly1020=) c.3054G>T (p.Gly1018=) c.3036G>T (p.Gly1012=) c.2982G>T (p.Gly994=) c.3118-314G>T (n.3118-314G>T) c.2289G>T (p.Gly763=) c.2202G>T (p.Gly734=) n.3478G>T | dbSNP |
17 | g.39727376G>A | CA399310463 | ERBB2 | c.3241G>A (p.Ala1081Thr) c.3151G>A (p.Ala1051Thr) c.2413G>A (p.Ala805Thr) c.3196G>A (p.Ala1066Thr) c.*3031G>A (n.*3031G>A) c.3160-313G>A (n.3160-313G>A) n.3565G>A c.3379G>A (p.Ala1127Thr) c.3334G>A (p.Ala1112Thr) c.3289G>A (p.Ala1097Thr) c.3358G>A (p.Ala1120Thr) c.3343G>A (p.Ala1115Thr) c.3322G>A (p.Ala1108Thr) c.3316G>A (p.Ala1106Thr) c.3271G>A (p.Ala1091Thr) c.3262G>A (p.Ala1088Thr) c.3238G>A (p.Ala1080Thr) c.3232G>A (p.Ala1078Thr) c.3205G>A (p.Ala1069Thr) c.3199G>A (p.Ala1067Thr) c.3193G>A (p.Ala1065Thr) c.3154G>A (p.Ala1052Thr) c.3142G>A (p.Ala1048Thr) c.3085G>A (p.Ala1029Thr) c.3061G>A (p.Ala1021Thr) c.3055G>A (p.Ala1019Thr) c.3037G>A (p.Ala1013Thr) c.2983G>A (p.Ala995Thr) c.3118-313G>A (n.3118-313G>A) c.2290G>A (p.Ala764Thr) c.2203G>A (p.Ala735Thr) n.3479G>A | dbSNP |
17 | g.39727376G>C | CA290443229 | ERBB2 | c.3241G>C (p.Ala1081Pro) c.3151G>C (p.Ala1051Pro) c.2413G>C (p.Ala805Pro) c.3196G>C (p.Ala1066Pro) c.*3031G>C (n.*3031G>C) c.3160-313G>C (n.3160-313G>C) n.3565G>C c.3379G>C (p.Ala1127Pro) c.3334G>C (p.Ala1112Pro) c.3289G>C (p.Ala1097Pro) c.3358G>C (p.Ala1120Pro) c.3343G>C (p.Ala1115Pro) c.3322G>C (p.Ala1108Pro) c.3316G>C (p.Ala1106Pro) c.3271G>C (p.Ala1091Pro) c.3262G>C (p.Ala1088Pro) c.3238G>C (p.Ala1080Pro) c.3232G>C (p.Ala1078Pro) c.3205G>C (p.Ala1069Pro) c.3199G>C (p.Ala1067Pro) c.3193G>C (p.Ala1065Pro) c.3154G>C (p.Ala1052Pro) c.3142G>C (p.Ala1048Pro) c.3085G>C (p.Ala1029Pro) c.3061G>C (p.Ala1021Pro) c.3055G>C (p.Ala1019Pro) c.3037G>C (p.Ala1013Pro) c.2983G>C (p.Ala995Pro) c.3118-313G>C (n.3118-313G>C) c.2290G>C (p.Ala764Pro) c.2203G>C (p.Ala735Pro) n.3479G>C | dbSNP gnomAD v4 |
17 | g.39727376G= | CA2259228737 | ERBB2 | c.3241G= (p.Ala1081=) c.3151G= (p.Ala1051=) c.2413G= (p.Ala805=) c.3196G= (p.Ala1066=) c.*3031G= (n.*3031G=) c.3160-313G= (n.3160-313G=) n.3565G= c.3379G= (p.Ala1127=) c.3334G= (p.Ala1112=) c.3289G= (p.Ala1097=) c.3358G= (p.Ala1120=) c.3343G= (p.Ala1115=) c.3322G= (p.Ala1108=) c.3316G= (p.Ala1106=) c.3271G= (p.Ala1091=) c.3262G= (p.Ala1088=) c.3238G= (p.Ala1080=) c.3232G= (p.Ala1078=) c.3205G= (p.Ala1069=) c.3199G= (p.Ala1067=) c.3193G= (p.Ala1065=) c.3154G= (p.Ala1052=) c.3142G= (p.Ala1048=) c.3085G= (p.Ala1029=) c.3061G= (p.Ala1021=) c.3055G= (p.Ala1019=) c.3037G= (p.Ala1013=) c.2983G= (p.Ala995=) c.3118-313G= (n.3118-313G=) c.2290G= (p.Ala764=) c.2203G= (p.Ala735=) n.3479G= | |
17 | g.39727376G>T | CA399310465 | ERBB2 | c.3241G>T (p.Ala1081Ser) c.3151G>T (p.Ala1051Ser) c.2413G>T (p.Ala805Ser) c.3196G>T (p.Ala1066Ser) c.*3031G>T (n.*3031G>T) c.3160-313G>T (n.3160-313G>T) n.3565G>T c.3379G>T (p.Ala1127Ser) c.3334G>T (p.Ala1112Ser) c.3289G>T (p.Ala1097Ser) c.3358G>T (p.Ala1120Ser) c.3343G>T (p.Ala1115Ser) c.3322G>T (p.Ala1108Ser) c.3316G>T (p.Ala1106Ser) c.3271G>T (p.Ala1091Ser) c.3262G>T (p.Ala1088Ser) c.3238G>T (p.Ala1080Ser) c.3232G>T (p.Ala1078Ser) c.3205G>T (p.Ala1069Ser) c.3199G>T (p.Ala1067Ser) c.3193G>T (p.Ala1065Ser) c.3154G>T (p.Ala1052Ser) c.3142G>T (p.Ala1048Ser) c.3085G>T (p.Ala1029Ser) c.3061G>T (p.Ala1021Ser) c.3055G>T (p.Ala1019Ser) c.3037G>T (p.Ala1013Ser) c.2983G>T (p.Ala995Ser) c.3118-313G>T (n.3118-313G>T) c.2290G>T (p.Ala764Ser) c.2203G>T (p.Ala735Ser) n.3479G>T | ClinVar dbSNP gnomAD v4 |
17 | g.39727377C>A | CA399310476 | ERBB2 | c.3242C>A (p.Ala1081Asp) c.3152C>A (p.Ala1051Asp) c.2414C>A (p.Ala805Asp) c.3197C>A (p.Ala1066Asp) c.*3032C>A (n.*3032C>A) c.3160-312C>A (n.3160-312C>A) n.3566C>A c.3380C>A (p.Ala1127Asp) c.3335C>A (p.Ala1112Asp) c.3290C>A (p.Ala1097Asp) c.3359C>A (p.Ala1120Asp) c.3344C>A (p.Ala1115Asp) c.3323C>A (p.Ala1108Asp) c.3317C>A (p.Ala1106Asp) c.3272C>A (p.Ala1091Asp) c.3263C>A (p.Ala1088Asp) c.3239C>A (p.Ala1080Asp) c.3233C>A (p.Ala1078Asp) c.3206C>A (p.Ala1069Asp) c.3200C>A (p.Ala1067Asp) c.3194C>A (p.Ala1065Asp) c.3155C>A (p.Ala1052Asp) c.3143C>A (p.Ala1048Asp) c.3086C>A (p.Ala1029Asp) c.3062C>A (p.Ala1021Asp) c.3056C>A (p.Ala1019Asp) c.3038C>A (p.Ala1013Asp) c.2984C>A (p.Ala995Asp) c.3118-312C>A (n.3118-312C>A) c.2291C>A (p.Ala764Asp) c.2204C>A (p.Ala735Asp) n.3480C>A | dbSNP |
17 | g.39727377C>G | CA399310473 | ERBB2 | c.3242C>G (p.Ala1081Gly) c.3152C>G (p.Ala1051Gly) c.2414C>G (p.Ala805Gly) c.3197C>G (p.Ala1066Gly) c.*3032C>G (n.*3032C>G) c.3160-312C>G (n.3160-312C>G) n.3566C>G c.3380C>G (p.Ala1127Gly) c.3335C>G (p.Ala1112Gly) c.3290C>G (p.Ala1097Gly) c.3359C>G (p.Ala1120Gly) c.3344C>G (p.Ala1115Gly) c.3323C>G (p.Ala1108Gly) c.3317C>G (p.Ala1106Gly) c.3272C>G (p.Ala1091Gly) c.3263C>G (p.Ala1088Gly) c.3239C>G (p.Ala1080Gly) c.3233C>G (p.Ala1078Gly) c.3206C>G (p.Ala1069Gly) c.3200C>G (p.Ala1067Gly) c.3194C>G (p.Ala1065Gly) c.3155C>G (p.Ala1052Gly) c.3143C>G (p.Ala1048Gly) c.3086C>G (p.Ala1029Gly) c.3062C>G (p.Ala1021Gly) c.3056C>G (p.Ala1019Gly) c.3038C>G (p.Ala1013Gly) c.2984C>G (p.Ala995Gly) c.3118-312C>G (n.3118-312C>G) c.2291C>G (p.Ala764Gly) c.2204C>G (p.Ala735Gly) n.3480C>G | dbSNP |
17 | g.39727377C>T | CA399310470 | ERBB2 | c.3242C>T (p.Ala1081Val) c.3152C>T (p.Ala1051Val) c.2414C>T (p.Ala805Val) c.3197C>T (p.Ala1066Val) c.*3032C>T (n.*3032C>T) c.3160-312C>T (n.3160-312C>T) n.3566C>T c.3380C>T (p.Ala1127Val) c.3335C>T (p.Ala1112Val) c.3290C>T (p.Ala1097Val) c.3359C>T (p.Ala1120Val) c.3344C>T (p.Ala1115Val) c.3323C>T (p.Ala1108Val) c.3317C>T (p.Ala1106Val) c.3272C>T (p.Ala1091Val) c.3263C>T (p.Ala1088Val) c.3239C>T (p.Ala1080Val) c.3233C>T (p.Ala1078Val) c.3206C>T (p.Ala1069Val) c.3200C>T (p.Ala1067Val) c.3194C>T (p.Ala1065Val) c.3155C>T (p.Ala1052Val) c.3143C>T (p.Ala1048Val) c.3086C>T (p.Ala1029Val) c.3062C>T (p.Ala1021Val) c.3056C>T (p.Ala1019Val) c.3038C>T (p.Ala1013Val) c.2984C>T (p.Ala995Val) c.3118-312C>T (n.3118-312C>T) c.2291C>T (p.Ala764Val) c.2204C>T (p.Ala735Val) n.3480C>T | dbSNP |
17 | g.39727378T>A | CA499671633 | ERBB2 | c.3243T>A (p.Ala1081=) c.3153T>A (p.Ala1051=) c.2415T>A (p.Ala805=) c.3198T>A (p.Ala1066=) c.*3033T>A (n.*3033T>A) c.3160-311T>A (n.3160-311T>A) n.3567T>A c.3381T>A (p.Ala1127=) c.3336T>A (p.Ala1112=) c.3291T>A (p.Ala1097=) c.3360T>A (p.Ala1120=) c.3345T>A (p.Ala1115=) c.3324T>A (p.Ala1108=) c.3318T>A (p.Ala1106=) c.3273T>A (p.Ala1091=) c.3264T>A (p.Ala1088=) c.3240T>A (p.Ala1080=) c.3234T>A (p.Ala1078=) c.3207T>A (p.Ala1069=) c.3201T>A (p.Ala1067=) c.3195T>A (p.Ala1065=) c.3156T>A (p.Ala1052=) c.3144T>A (p.Ala1048=) c.3087T>A (p.Ala1029=) c.3063T>A (p.Ala1021=) c.3057T>A (p.Ala1019=) c.3039T>A (p.Ala1013=) c.2985T>A (p.Ala995=) c.3118-311T>A (n.3118-311T>A) c.2292T>A (p.Ala764=) c.2205T>A (p.Ala735=) n.3481T>A | |
17 | g.39727378T>C | CA499671635 | ERBB2 | c.3243T>C (p.Ala1081=) c.3153T>C (p.Ala1051=) c.2415T>C (p.Ala805=) c.3198T>C (p.Ala1066=) c.*3033T>C (n.*3033T>C) c.3160-311T>C (n.3160-311T>C) n.3567T>C c.3381T>C (p.Ala1127=) c.3336T>C (p.Ala1112=) c.3291T>C (p.Ala1097=) c.3360T>C (p.Ala1120=) c.3345T>C (p.Ala1115=) c.3324T>C (p.Ala1108=) c.3318T>C (p.Ala1106=) c.3273T>C (p.Ala1091=) c.3264T>C (p.Ala1088=) c.3240T>C (p.Ala1080=) c.3234T>C (p.Ala1078=) c.3207T>C (p.Ala1069=) c.3201T>C (p.Ala1067=) c.3195T>C (p.Ala1065=) c.3156T>C (p.Ala1052=) c.3144T>C (p.Ala1048=) c.3087T>C (p.Ala1029=) c.3063T>C (p.Ala1021=) c.3057T>C (p.Ala1019=) c.3039T>C (p.Ala1013=) c.2985T>C (p.Ala995=) c.3118-311T>C (n.3118-311T>C) c.2292T>C (p.Ala764=) c.2205T>C (p.Ala735=) n.3481T>C | dbSNP |
17 | g.39727378T>G | CA499671634 | ERBB2 | c.3243T>G (p.Ala1081=) c.3153T>G (p.Ala1051=) c.2415T>G (p.Ala805=) c.3198T>G (p.Ala1066=) c.*3033T>G (n.*3033T>G) c.3160-311T>G (n.3160-311T>G) n.3567T>G c.3381T>G (p.Ala1127=) c.3336T>G (p.Ala1112=) c.3291T>G (p.Ala1097=) c.3360T>G (p.Ala1120=) c.3345T>G (p.Ala1115=) c.3324T>G (p.Ala1108=) c.3318T>G (p.Ala1106=) c.3273T>G (p.Ala1091=) c.3264T>G (p.Ala1088=) c.3240T>G (p.Ala1080=) c.3234T>G (p.Ala1078=) c.3207T>G (p.Ala1069=) c.3201T>G (p.Ala1067=) c.3195T>G (p.Ala1065=) c.3156T>G (p.Ala1052=) c.3144T>G (p.Ala1048=) c.3087T>G (p.Ala1029=) c.3063T>G (p.Ala1021=) c.3057T>G (p.Ala1019=) c.3039T>G (p.Ala1013=) c.2985T>G (p.Ala995=) c.3118-311T>G (n.3118-311T>G) c.2292T>G (p.Ala764=) c.2205T>G (p.Ala735=) n.3481T>G | dbSNP |
17 | g.39727379G>A | CA399310481 | ERBB2 | c.3244G>A (p.Gly1082Ser) c.3154G>A (p.Gly1052Ser) c.2416G>A (p.Gly806Ser) c.3199G>A (p.Gly1067Ser) c.*3034G>A (n.*3034G>A) c.3160-310G>A (n.3160-310G>A) n.3568G>A c.3382G>A (p.Gly1128Ser) c.3337G>A (p.Gly1113Ser) c.3292G>A (p.Gly1098Ser) c.3361G>A (p.Gly1121Ser) c.3346G>A (p.Gly1116Ser) c.3325G>A (p.Gly1109Ser) c.3319G>A (p.Gly1107Ser) c.3274G>A (p.Gly1092Ser) c.3265G>A (p.Gly1089Ser) c.3241G>A (p.Gly1081Ser) c.3235G>A (p.Gly1079Ser) c.3208G>A (p.Gly1070Ser) c.3202G>A (p.Gly1068Ser) c.3196G>A (p.Gly1066Ser) c.3157G>A (p.Gly1053Ser) c.3145G>A (p.Gly1049Ser) c.3088G>A (p.Gly1030Ser) c.3064G>A (p.Gly1022Ser) c.3058G>A (p.Gly1020Ser) c.3040G>A (p.Gly1014Ser) c.2986G>A (p.Gly996Ser) c.3118-310G>A (n.3118-310G>A) c.2293G>A (p.Gly765Ser) c.2206G>A (p.Gly736Ser) n.3482G>A | dbSNP |
17 | g.39727379G>C | CA399310484 | ERBB2 | c.3244G>C (p.Gly1082Arg) c.3154G>C (p.Gly1052Arg) c.2416G>C (p.Gly806Arg) c.3199G>C (p.Gly1067Arg) c.*3034G>C (n.*3034G>C) c.3160-310G>C (n.3160-310G>C) n.3568G>C c.3382G>C (p.Gly1128Arg) c.3337G>C (p.Gly1113Arg) c.3292G>C (p.Gly1098Arg) c.3361G>C (p.Gly1121Arg) c.3346G>C (p.Gly1116Arg) c.3325G>C (p.Gly1109Arg) c.3319G>C (p.Gly1107Arg) c.3274G>C (p.Gly1092Arg) c.3265G>C (p.Gly1089Arg) c.3241G>C (p.Gly1081Arg) c.3235G>C (p.Gly1079Arg) c.3208G>C (p.Gly1070Arg) c.3202G>C (p.Gly1068Arg) c.3196G>C (p.Gly1066Arg) c.3157G>C (p.Gly1053Arg) c.3145G>C (p.Gly1049Arg) c.3088G>C (p.Gly1030Arg) c.3064G>C (p.Gly1022Arg) c.3058G>C (p.Gly1020Arg) c.3040G>C (p.Gly1014Arg) c.2986G>C (p.Gly996Arg) c.3118-310G>C (n.3118-310G>C) c.2293G>C (p.Gly765Arg) c.2206G>C (p.Gly736Arg) n.3482G>C | dbSNP |
17 | g.39727379G>T | CA399310487 | ERBB2 | c.3244G>T (p.Gly1082Cys) c.3154G>T (p.Gly1052Cys) c.2416G>T (p.Gly806Cys) c.3199G>T (p.Gly1067Cys) c.*3034G>T (n.*3034G>T) c.3160-310G>T (n.3160-310G>T) n.3568G>T c.3382G>T (p.Gly1128Cys) c.3337G>T (p.Gly1113Cys) c.3292G>T (p.Gly1098Cys) c.3361G>T (p.Gly1121Cys) c.3346G>T (p.Gly1116Cys) c.3325G>T (p.Gly1109Cys) c.3319G>T (p.Gly1107Cys) c.3274G>T (p.Gly1092Cys) c.3265G>T (p.Gly1089Cys) c.3241G>T (p.Gly1081Cys) c.3235G>T (p.Gly1079Cys) c.3208G>T (p.Gly1070Cys) c.3202G>T (p.Gly1068Cys) c.3196G>T (p.Gly1066Cys) c.3157G>T (p.Gly1053Cys) c.3145G>T (p.Gly1049Cys) c.3088G>T (p.Gly1030Cys) c.3064G>T (p.Gly1022Cys) c.3058G>T (p.Gly1020Cys) c.3040G>T (p.Gly1014Cys) c.2986G>T (p.Gly996Cys) c.3118-310G>T (n.3118-310G>T) c.2293G>T (p.Gly765Cys) c.2206G>T (p.Gly736Cys) n.3482G>T | |
17 | g.39727380G>A | CA399310490 | ERBB2 | c.3245G>A (p.Gly1082Asp) c.3155G>A (p.Gly1052Asp) c.2417G>A (p.Gly806Asp) c.3200G>A (p.Gly1067Asp) c.*3035G>A (n.*3035G>A) c.3160-309G>A (n.3160-309G>A) n.3569G>A c.3383G>A (p.Gly1128Asp) c.3338G>A (p.Gly1113Asp) c.3293G>A (p.Gly1098Asp) c.3362G>A (p.Gly1121Asp) c.3347G>A (p.Gly1116Asp) c.3326G>A (p.Gly1109Asp) c.3320G>A (p.Gly1107Asp) c.3275G>A (p.Gly1092Asp) c.3266G>A (p.Gly1089Asp) c.3242G>A (p.Gly1081Asp) c.3236G>A (p.Gly1079Asp) c.3209G>A (p.Gly1070Asp) c.3203G>A (p.Gly1068Asp) c.3197G>A (p.Gly1066Asp) c.3158G>A (p.Gly1053Asp) c.3146G>A (p.Gly1049Asp) c.3089G>A (p.Gly1030Asp) c.3065G>A (p.Gly1022Asp) c.3059G>A (p.Gly1020Asp) c.3041G>A (p.Gly1014Asp) c.2987G>A (p.Gly996Asp) c.3118-309G>A (n.3118-309G>A) c.2294G>A (p.Gly765Asp) c.2207G>A (p.Gly736Asp) n.3483G>A | dbSNP |
17 | g.39727380G>C | CA399310493 | ERBB2 | c.3245G>C (p.Gly1082Ala) c.3155G>C (p.Gly1052Ala) c.2417G>C (p.Gly806Ala) c.3200G>C (p.Gly1067Ala) c.*3035G>C (n.*3035G>C) c.3160-309G>C (n.3160-309G>C) n.3569G>C c.3383G>C (p.Gly1128Ala) c.3338G>C (p.Gly1113Ala) c.3293G>C (p.Gly1098Ala) c.3362G>C (p.Gly1121Ala) c.3347G>C (p.Gly1116Ala) c.3326G>C (p.Gly1109Ala) c.3320G>C (p.Gly1107Ala) c.3275G>C (p.Gly1092Ala) c.3266G>C (p.Gly1089Ala) c.3242G>C (p.Gly1081Ala) c.3236G>C (p.Gly1079Ala) c.3209G>C (p.Gly1070Ala) c.3203G>C (p.Gly1068Ala) c.3197G>C (p.Gly1066Ala) c.3158G>C (p.Gly1053Ala) c.3146G>C (p.Gly1049Ala) c.3089G>C (p.Gly1030Ala) c.3065G>C (p.Gly1022Ala) c.3059G>C (p.Gly1020Ala) c.3041G>C (p.Gly1014Ala) c.2987G>C (p.Gly996Ala) c.3118-309G>C (n.3118-309G>C) c.2294G>C (p.Gly765Ala) c.2207G>C (p.Gly736Ala) n.3483G>C | dbSNP |
17 | g.39727380G>T | CA399310494 | ERBB2 | c.3245G>T (p.Gly1082Val) c.3155G>T (p.Gly1052Val) c.2417G>T (p.Gly806Val) c.3200G>T (p.Gly1067Val) c.*3035G>T (n.*3035G>T) c.3160-309G>T (n.3160-309G>T) n.3569G>T c.3383G>T (p.Gly1128Val) c.3338G>T (p.Gly1113Val) c.3293G>T (p.Gly1098Val) c.3362G>T (p.Gly1121Val) c.3347G>T (p.Gly1116Val) c.3326G>T (p.Gly1109Val) c.3320G>T (p.Gly1107Val) c.3275G>T (p.Gly1092Val) c.3266G>T (p.Gly1089Val) c.3242G>T (p.Gly1081Val) c.3236G>T (p.Gly1079Val) c.3209G>T (p.Gly1070Val) c.3203G>T (p.Gly1068Val) c.3197G>T (p.Gly1066Val) c.3158G>T (p.Gly1053Val) c.3146G>T (p.Gly1049Val) c.3089G>T (p.Gly1030Val) c.3065G>T (p.Gly1022Val) c.3059G>T (p.Gly1020Val) c.3041G>T (p.Gly1014Val) c.2987G>T (p.Gly996Val) c.3118-309G>T (n.3118-309G>T) c.2294G>T (p.Gly765Val) c.2207G>T (p.Gly736Val) n.3483G>T | dbSNP |
17 | g.39727381C>A | CA499671636 | ERBB2 | c.3246C>A (p.Gly1082=) c.3156C>A (p.Gly1052=) c.2418C>A (p.Gly806=) c.3201C>A (p.Gly1067=) c.*3036C>A (n.*3036C>A) c.3160-308C>A (n.3160-308C>A) n.3570C>A c.3384C>A (p.Gly1128=) c.3339C>A (p.Gly1113=) c.3294C>A (p.Gly1098=) c.3363C>A (p.Gly1121=) c.3348C>A (p.Gly1116=) c.3327C>A (p.Gly1109=) c.3321C>A (p.Gly1107=) c.3276C>A (p.Gly1092=) c.3267C>A (p.Gly1089=) c.3243C>A (p.Gly1081=) c.3237C>A (p.Gly1079=) c.3210C>A (p.Gly1070=) c.3204C>A (p.Gly1068=) c.3198C>A (p.Gly1066=) c.3159C>A (p.Gly1053=) c.3147C>A (p.Gly1049=) c.3090C>A (p.Gly1030=) c.3066C>A (p.Gly1022=) c.3060C>A (p.Gly1020=) c.3042C>A (p.Gly1014=) c.2988C>A (p.Gly996=) c.3118-308C>A (n.3118-308C>A) c.2295C>A (p.Gly765=) c.2208C>A (p.Gly736=) n.3484C>A | dbSNP |
17 | g.39727381C= | CA2259228739 | ERBB2 | c.3246C= (p.Gly1082=) c.3156C= (p.Gly1052=) c.2418C= (p.Gly806=) c.3201C= (p.Gly1067=) c.*3036C= (n.*3036C=) c.3160-308C= (n.3160-308C=) n.3570C= c.3384C= (p.Gly1128=) c.3339C= (p.Gly1113=) c.3294C= (p.Gly1098=) c.3363C= (p.Gly1121=) c.3348C= (p.Gly1116=) c.3327C= (p.Gly1109=) c.3321C= (p.Gly1107=) c.3276C= (p.Gly1092=) c.3267C= (p.Gly1089=) c.3243C= (p.Gly1081=) c.3237C= (p.Gly1079=) c.3210C= (p.Gly1070=) c.3204C= (p.Gly1068=) c.3198C= (p.Gly1066=) c.3159C= (p.Gly1053=) c.3147C= (p.Gly1049=) c.3090C= (p.Gly1030=) c.3066C= (p.Gly1022=) c.3060C= (p.Gly1020=) c.3042C= (p.Gly1014=) c.2988C= (p.Gly996=) c.3118-308C= (n.3118-308C=) c.2295C= (p.Gly765=) c.2208C= (p.Gly736=) n.3484C= | |
17 | g.39727381C>G | CA499671637 | ERBB2 | c.3246C>G (p.Gly1082=) c.3156C>G (p.Gly1052=) c.2418C>G (p.Gly806=) c.3201C>G (p.Gly1067=) c.*3036C>G (n.*3036C>G) c.3160-308C>G (n.3160-308C>G) n.3570C>G c.3384C>G (p.Gly1128=) c.3339C>G (p.Gly1113=) c.3294C>G (p.Gly1098=) c.3363C>G (p.Gly1121=) c.3348C>G (p.Gly1116=) c.3327C>G (p.Gly1109=) c.3321C>G (p.Gly1107=) c.3276C>G (p.Gly1092=) c.3267C>G (p.Gly1089=) c.3243C>G (p.Gly1081=) c.3237C>G (p.Gly1079=) c.3210C>G (p.Gly1070=) c.3204C>G (p.Gly1068=) c.3198C>G (p.Gly1066=) c.3159C>G (p.Gly1053=) c.3147C>G (p.Gly1049=) c.3090C>G (p.Gly1030=) c.3066C>G (p.Gly1022=) c.3060C>G (p.Gly1020=) c.3042C>G (p.Gly1014=) c.2988C>G (p.Gly996=) c.3118-308C>G (n.3118-308C>G) c.2295C>G (p.Gly765=) c.2208C>G (p.Gly736=) n.3484C>G | dbSNP |
17 | g.39727381C>T | CA499671638 | ERBB2 | c.3246C>T (p.Gly1082=) c.3156C>T (p.Gly1052=) c.2418C>T (p.Gly806=) c.3201C>T (p.Gly1067=) c.*3036C>T (n.*3036C>T) c.3160-308C>T (n.3160-308C>T) n.3570C>T c.3384C>T (p.Gly1128=) c.3339C>T (p.Gly1113=) c.3294C>T (p.Gly1098=) c.3363C>T (p.Gly1121=) c.3348C>T (p.Gly1116=) c.3327C>T (p.Gly1109=) c.3321C>T (p.Gly1107=) c.3276C>T (p.Gly1092=) c.3267C>T (p.Gly1089=) c.3243C>T (p.Gly1081=) c.3237C>T (p.Gly1079=) c.3210C>T (p.Gly1070=) c.3204C>T (p.Gly1068=) c.3198C>T (p.Gly1066=) c.3159C>T (p.Gly1053=) c.3147C>T (p.Gly1049=) c.3090C>T (p.Gly1030=) c.3066C>T (p.Gly1022=) c.3060C>T (p.Gly1020=) c.3042C>T (p.Gly1014=) c.2988C>T (p.Gly996=) c.3118-308C>T (n.3118-308C>T) c.2295C>T (p.Gly765=) c.2208C>T (p.Gly736=) n.3484C>T | dbSNP |
17 | g.39727382T>A | CA399310498 | ERBB2 | c.3247T>A (p.Ser1083Thr) c.3157T>A (p.Ser1053Thr) c.2419T>A (p.Ser807Thr) c.3202T>A (p.Ser1068Thr) c.*3037T>A (n.*3037T>A) c.3160-307T>A (n.3160-307T>A) n.3571T>A c.3385T>A (p.Ser1129Thr) c.3340T>A (p.Ser1114Thr) c.3295T>A (p.Ser1099Thr) c.3364T>A (p.Ser1122Thr) c.3349T>A (p.Ser1117Thr) c.3328T>A (p.Ser1110Thr) c.3322T>A (p.Ser1108Thr) c.3277T>A (p.Ser1093Thr) c.3268T>A (p.Ser1090Thr) c.3244T>A (p.Ser1082Thr) c.3238T>A (p.Ser1080Thr) c.3211T>A (p.Ser1071Thr) c.3205T>A (p.Ser1069Thr) c.3199T>A (p.Ser1067Thr) c.3160T>A (p.Ser1054Thr) c.3148T>A (p.Ser1050Thr) c.3091T>A (p.Ser1031Thr) c.3067T>A (p.Ser1023Thr) c.3061T>A (p.Ser1021Thr) c.3043T>A (p.Ser1015Thr) c.2989T>A (p.Ser997Thr) c.3118-307T>A (n.3118-307T>A) c.2296T>A (p.Ser766Thr) c.2209T>A (p.Ser737Thr) n.3485T>A | |
17 | g.39727382T>C | CA399310501 | ERBB2 | c.3247T>C (p.Ser1083Pro) c.3157T>C (p.Ser1053Pro) c.2419T>C (p.Ser807Pro) c.3202T>C (p.Ser1068Pro) c.*3037T>C (n.*3037T>C) c.3160-307T>C (n.3160-307T>C) n.3571T>C c.3385T>C (p.Ser1129Pro) c.3340T>C (p.Ser1114Pro) c.3295T>C (p.Ser1099Pro) c.3364T>C (p.Ser1122Pro) c.3349T>C (p.Ser1117Pro) c.3328T>C (p.Ser1110Pro) c.3322T>C (p.Ser1108Pro) c.3277T>C (p.Ser1093Pro) c.3268T>C (p.Ser1090Pro) c.3244T>C (p.Ser1082Pro) c.3238T>C (p.Ser1080Pro) c.3211T>C (p.Ser1071Pro) c.3205T>C (p.Ser1069Pro) c.3199T>C (p.Ser1067Pro) c.3160T>C (p.Ser1054Pro) c.3148T>C (p.Ser1050Pro) c.3091T>C (p.Ser1031Pro) c.3067T>C (p.Ser1023Pro) c.3061T>C (p.Ser1021Pro) c.3043T>C (p.Ser1015Pro) c.2989T>C (p.Ser997Pro) c.3118-307T>C (n.3118-307T>C) c.2296T>C (p.Ser766Pro) c.2209T>C (p.Ser737Pro) n.3485T>C | |
17 | g.39727382T>G | CA399310503 | ERBB2 | c.3247T>G (p.Ser1083Ala) c.3157T>G (p.Ser1053Ala) c.2419T>G (p.Ser807Ala) c.3202T>G (p.Ser1068Ala) c.*3037T>G (n.*3037T>G) c.3160-307T>G (n.3160-307T>G) n.3571T>G c.3385T>G (p.Ser1129Ala) c.3340T>G (p.Ser1114Ala) c.3295T>G (p.Ser1099Ala) c.3364T>G (p.Ser1122Ala) c.3349T>G (p.Ser1117Ala) c.3328T>G (p.Ser1110Ala) c.3322T>G (p.Ser1108Ala) c.3277T>G (p.Ser1093Ala) c.3268T>G (p.Ser1090Ala) c.3244T>G (p.Ser1082Ala) c.3238T>G (p.Ser1080Ala) c.3211T>G (p.Ser1071Ala) c.3205T>G (p.Ser1069Ala) c.3199T>G (p.Ser1067Ala) c.3160T>G (p.Ser1054Ala) c.3148T>G (p.Ser1050Ala) c.3091T>G (p.Ser1031Ala) c.3067T>G (p.Ser1023Ala) c.3061T>G (p.Ser1021Ala) c.3043T>G (p.Ser1015Ala) c.2989T>G (p.Ser997Ala) c.3118-307T>G (n.3118-307T>G) c.2296T>G (p.Ser766Ala) c.2209T>G (p.Ser737Ala) n.3485T>G | dbSNP gnomAD v4 |
17 | g.39727382T= | CA2259228741 | ERBB2 | c.3247T= (p.Ser1083=) c.3157T= (p.Ser1053=) c.2419T= (p.Ser807=) c.3202T= (p.Ser1068=) c.*3037T= (n.*3037T=) c.3160-307T= (n.3160-307T=) n.3571T= c.3385T= (p.Ser1129=) c.3340T= (p.Ser1114=) c.3295T= (p.Ser1099=) c.3364T= (p.Ser1122=) c.3349T= (p.Ser1117=) c.3328T= (p.Ser1110=) c.3322T= (p.Ser1108=) c.3277T= (p.Ser1093=) c.3268T= (p.Ser1090=) c.3244T= (p.Ser1082=) c.3238T= (p.Ser1080=) c.3211T= (p.Ser1071=) c.3205T= (p.Ser1069=) c.3199T= (p.Ser1067=) c.3160T= (p.Ser1054=) c.3148T= (p.Ser1050=) c.3091T= (p.Ser1031=) c.3067T= (p.Ser1023=) c.3061T= (p.Ser1021=) c.3043T= (p.Ser1015=) c.2989T= (p.Ser997=) c.3118-307T= (n.3118-307T=) c.2296T= (p.Ser766=) c.2209T= (p.Ser737=) n.3485T= | |
17 | g.39727383C>A | CA399310508 | ERBB2 | c.3248C>A (p.Ser1083Tyr) c.3158C>A (p.Ser1053Tyr) c.2420C>A (p.Ser807Tyr) c.3203C>A (p.Ser1068Tyr) c.*3038C>A (n.*3038C>A) c.3160-306C>A (n.3160-306C>A) n.3572C>A c.3386C>A (p.Ser1129Tyr) c.3341C>A (p.Ser1114Tyr) c.3296C>A (p.Ser1099Tyr) c.3365C>A (p.Ser1122Tyr) c.3350C>A (p.Ser1117Tyr) c.3329C>A (p.Ser1110Tyr) c.3323C>A (p.Ser1108Tyr) c.3278C>A (p.Ser1093Tyr) c.3269C>A (p.Ser1090Tyr) c.3245C>A (p.Ser1082Tyr) c.3239C>A (p.Ser1080Tyr) c.3212C>A (p.Ser1071Tyr) c.3206C>A (p.Ser1069Tyr) c.3200C>A (p.Ser1067Tyr) c.3161C>A (p.Ser1054Tyr) c.3149C>A (p.Ser1050Tyr) c.3092C>A (p.Ser1031Tyr) c.3068C>A (p.Ser1023Tyr) c.3062C>A (p.Ser1021Tyr) c.3044C>A (p.Ser1015Tyr) c.2990C>A (p.Ser997Tyr) c.3118-306C>A (n.3118-306C>A) c.2297C>A (p.Ser766Tyr) c.2210C>A (p.Ser737Tyr) n.3486C>A | dbSNP |
17 | g.39727383C>G | CA399310510 | ERBB2 | c.3248C>G (p.Ser1083Cys) c.3158C>G (p.Ser1053Cys) c.2420C>G (p.Ser807Cys) c.3203C>G (p.Ser1068Cys) c.*3038C>G (n.*3038C>G) c.3160-306C>G (n.3160-306C>G) n.3572C>G c.3386C>G (p.Ser1129Cys) c.3341C>G (p.Ser1114Cys) c.3296C>G (p.Ser1099Cys) c.3365C>G (p.Ser1122Cys) c.3350C>G (p.Ser1117Cys) c.3329C>G (p.Ser1110Cys) c.3323C>G (p.Ser1108Cys) c.3278C>G (p.Ser1093Cys) c.3269C>G (p.Ser1090Cys) c.3245C>G (p.Ser1082Cys) c.3239C>G (p.Ser1080Cys) c.3212C>G (p.Ser1071Cys) c.3206C>G (p.Ser1069Cys) c.3200C>G (p.Ser1067Cys) c.3161C>G (p.Ser1054Cys) c.3149C>G (p.Ser1050Cys) c.3092C>G (p.Ser1031Cys) c.3068C>G (p.Ser1023Cys) c.3062C>G (p.Ser1021Cys) c.3044C>G (p.Ser1015Cys) c.2990C>G (p.Ser997Cys) c.3118-306C>G (n.3118-306C>G) c.2297C>G (p.Ser766Cys) c.2210C>G (p.Ser737Cys) n.3486C>G | dbSNP |
17 | g.39727383C>T | CA399310513 | ERBB2 | c.3248C>T (p.Ser1083Phe) c.3158C>T (p.Ser1053Phe) c.2420C>T (p.Ser807Phe) c.3203C>T (p.Ser1068Phe) c.*3038C>T (n.*3038C>T) c.3160-306C>T (n.3160-306C>T) n.3572C>T c.3386C>T (p.Ser1129Phe) c.3341C>T (p.Ser1114Phe) c.3296C>T (p.Ser1099Phe) c.3365C>T (p.Ser1122Phe) c.3350C>T (p.Ser1117Phe) c.3329C>T (p.Ser1110Phe) c.3323C>T (p.Ser1108Phe) c.3278C>T (p.Ser1093Phe) c.3269C>T (p.Ser1090Phe) c.3245C>T (p.Ser1082Phe) c.3239C>T (p.Ser1080Phe) c.3212C>T (p.Ser1071Phe) c.3206C>T (p.Ser1069Phe) c.3200C>T (p.Ser1067Phe) c.3161C>T (p.Ser1054Phe) c.3149C>T (p.Ser1050Phe) c.3092C>T (p.Ser1031Phe) c.3068C>T (p.Ser1023Phe) c.3062C>T (p.Ser1021Phe) c.3044C>T (p.Ser1015Phe) c.2990C>T (p.Ser997Phe) c.3118-306C>T (n.3118-306C>T) c.2297C>T (p.Ser766Phe) c.2210C>T (p.Ser737Phe) n.3486C>T | dbSNP |
17 | g.39727384C>A | CA8534507 | ERBB2 | c.3249C>A (p.Ser1083=) c.3159C>A (p.Ser1053=) c.2421C>A (p.Ser807=) c.3204C>A (p.Ser1068=) c.*3039C>A (n.*3039C>A) c.3160-305C>A (n.3160-305C>A) n.3573C>A c.3387C>A (p.Ser1129=) c.3342C>A (p.Ser1114=) c.3297C>A (p.Ser1099=) c.3366C>A (p.Ser1122=) c.3351C>A (p.Ser1117=) c.3330C>A (p.Ser1110=) c.3324C>A (p.Ser1108=) c.3279C>A (p.Ser1093=) c.3270C>A (p.Ser1090=) c.3246C>A (p.Ser1082=) c.3240C>A (p.Ser1080=) c.3213C>A (p.Ser1071=) c.3207C>A (p.Ser1069=) c.3201C>A (p.Ser1067=) c.3162C>A (p.Ser1054=) c.3150C>A (p.Ser1050=) c.3093C>A (p.Ser1031=) c.3069C>A (p.Ser1023=) c.3063C>A (p.Ser1021=) c.3045C>A (p.Ser1015=) c.2991C>A (p.Ser997=) c.3118-305C>A (n.3118-305C>A) c.2298C>A (p.Ser766=) c.2211C>A (p.Ser737=) n.3487C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727384C= | CA2259228745 | ERBB2 | c.3249C= (p.Ser1083=) c.3159C= (p.Ser1053=) c.2421C= (p.Ser807=) c.3204C= (p.Ser1068=) c.*3039C= (n.*3039C=) c.3160-305C= (n.3160-305C=) n.3573C= c.3387C= (p.Ser1129=) c.3342C= (p.Ser1114=) c.3297C= (p.Ser1099=) c.3366C= (p.Ser1122=) c.3351C= (p.Ser1117=) c.3330C= (p.Ser1110=) c.3324C= (p.Ser1108=) c.3279C= (p.Ser1093=) c.3270C= (p.Ser1090=) c.3246C= (p.Ser1082=) c.3240C= (p.Ser1080=) c.3213C= (p.Ser1071=) c.3207C= (p.Ser1069=) c.3201C= (p.Ser1067=) c.3162C= (p.Ser1054=) c.3150C= (p.Ser1050=) c.3093C= (p.Ser1031=) c.3069C= (p.Ser1023=) c.3063C= (p.Ser1021=) c.3045C= (p.Ser1015=) c.2991C= (p.Ser997=) c.3118-305C= (n.3118-305C=) c.2298C= (p.Ser766=) c.2211C= (p.Ser737=) n.3487C= | |
17 | g.39727384C>G | CA499671639 | ERBB2 | c.3249C>G (p.Ser1083=) c.3159C>G (p.Ser1053=) c.2421C>G (p.Ser807=) c.3204C>G (p.Ser1068=) c.*3039C>G (n.*3039C>G) c.3160-305C>G (n.3160-305C>G) n.3573C>G c.3387C>G (p.Ser1129=) c.3342C>G (p.Ser1114=) c.3297C>G (p.Ser1099=) c.3366C>G (p.Ser1122=) c.3351C>G (p.Ser1117=) c.3330C>G (p.Ser1110=) c.3324C>G (p.Ser1108=) c.3279C>G (p.Ser1093=) c.3270C>G (p.Ser1090=) c.3246C>G (p.Ser1082=) c.3240C>G (p.Ser1080=) c.3213C>G (p.Ser1071=) c.3207C>G (p.Ser1069=) c.3201C>G (p.Ser1067=) c.3162C>G (p.Ser1054=) c.3150C>G (p.Ser1050=) c.3093C>G (p.Ser1031=) c.3069C>G (p.Ser1023=) c.3063C>G (p.Ser1021=) c.3045C>G (p.Ser1015=) c.2991C>G (p.Ser997=) c.3118-305C>G (n.3118-305C>G) c.2298C>G (p.Ser766=) c.2211C>G (p.Ser737=) n.3487C>G | dbSNP |
17 | g.39727384C>T | CA8534508 | ERBB2 | c.3249C>T (p.Ser1083=) c.3159C>T (p.Ser1053=) c.2421C>T (p.Ser807=) c.3204C>T (p.Ser1068=) c.*3039C>T (n.*3039C>T) c.3160-305C>T (n.3160-305C>T) n.3573C>T c.3387C>T (p.Ser1129=) c.3342C>T (p.Ser1114=) c.3297C>T (p.Ser1099=) c.3366C>T (p.Ser1122=) c.3351C>T (p.Ser1117=) c.3330C>T (p.Ser1110=) c.3324C>T (p.Ser1108=) c.3279C>T (p.Ser1093=) c.3270C>T (p.Ser1090=) c.3246C>T (p.Ser1082=) c.3240C>T (p.Ser1080=) c.3213C>T (p.Ser1071=) c.3207C>T (p.Ser1069=) c.3201C>T (p.Ser1067=) c.3162C>T (p.Ser1054=) c.3150C>T (p.Ser1050=) c.3093C>T (p.Ser1031=) c.3069C>T (p.Ser1023=) c.3063C>T (p.Ser1021=) c.3045C>T (p.Ser1015=) c.2991C>T (p.Ser997=) c.3118-305C>T (n.3118-305C>T) c.2298C>T (p.Ser766=) c.2211C>T (p.Ser737=) n.3487C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727385G>A | CA8534509 | ERBB2 | c.3250G>A (p.Asp1084Asn) c.3160G>A (p.Asp1054Asn) c.2422G>A (p.Asp808Asn) c.3205G>A (p.Asp1069Asn) c.*3040G>A (n.*3040G>A) c.3160-304G>A (n.3160-304G>A) n.3574G>A c.3388G>A (p.Asp1130Asn) c.3343G>A (p.Asp1115Asn) c.3298G>A (p.Asp1100Asn) c.3367G>A (p.Asp1123Asn) c.3352G>A (p.Asp1118Asn) c.3331G>A (p.Asp1111Asn) c.3325G>A (p.Asp1109Asn) c.3280G>A (p.Asp1094Asn) c.3271G>A (p.Asp1091Asn) c.3247G>A (p.Asp1083Asn) c.3241G>A (p.Asp1081Asn) c.3214G>A (p.Asp1072Asn) c.3208G>A (p.Asp1070Asn) c.3202G>A (p.Asp1068Asn) c.3163G>A (p.Asp1055Asn) c.3151G>A (p.Asp1051Asn) c.3094G>A (p.Asp1032Asn) c.3070G>A (p.Asp1024Asn) c.3064G>A (p.Asp1022Asn) c.3046G>A (p.Asp1016Asn) c.2992G>A (p.Asp998Asn) c.3118-304G>A (n.3118-304G>A) c.2299G>A (p.Asp767Asn) c.2212G>A (p.Asp738Asn) n.3488G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727385G>C | CA399310523 | ERBB2 | c.3250G>C (p.Asp1084His) c.3160G>C (p.Asp1054His) c.2422G>C (p.Asp808His) c.3205G>C (p.Asp1069His) c.*3040G>C (n.*3040G>C) c.3160-304G>C (n.3160-304G>C) n.3574G>C c.3388G>C (p.Asp1130His) c.3343G>C (p.Asp1115His) c.3298G>C (p.Asp1100His) c.3367G>C (p.Asp1123His) c.3352G>C (p.Asp1118His) c.3331G>C (p.Asp1111His) c.3325G>C (p.Asp1109His) c.3280G>C (p.Asp1094His) c.3271G>C (p.Asp1091His) c.3247G>C (p.Asp1083His) c.3241G>C (p.Asp1081His) c.3214G>C (p.Asp1072His) c.3208G>C (p.Asp1070His) c.3202G>C (p.Asp1068His) c.3163G>C (p.Asp1055His) c.3151G>C (p.Asp1051His) c.3094G>C (p.Asp1032His) c.3070G>C (p.Asp1024His) c.3064G>C (p.Asp1022His) c.3046G>C (p.Asp1016His) c.2992G>C (p.Asp998His) c.3118-304G>C (n.3118-304G>C) c.2299G>C (p.Asp767His) c.2212G>C (p.Asp738His) n.3488G>C | dbSNP |
17 | g.39727385G= | CA2259228750 | ERBB2 | c.3250G= (p.Asp1084=) c.3160G= (p.Asp1054=) c.2422G= (p.Asp808=) c.3205G= (p.Asp1069=) c.*3040G= (n.*3040G=) c.3160-304G= (n.3160-304G=) n.3574G= c.3388G= (p.Asp1130=) c.3343G= (p.Asp1115=) c.3298G= (p.Asp1100=) c.3367G= (p.Asp1123=) c.3352G= (p.Asp1118=) c.3331G= (p.Asp1111=) c.3325G= (p.Asp1109=) c.3280G= (p.Asp1094=) c.3271G= (p.Asp1091=) c.3247G= (p.Asp1083=) c.3241G= (p.Asp1081=) c.3214G= (p.Asp1072=) c.3208G= (p.Asp1070=) c.3202G= (p.Asp1068=) c.3163G= (p.Asp1055=) c.3151G= (p.Asp1051=) c.3094G= (p.Asp1032=) c.3070G= (p.Asp1024=) c.3064G= (p.Asp1022=) c.3046G= (p.Asp1016=) c.2992G= (p.Asp998=) c.3118-304G= (n.3118-304G=) c.2299G= (p.Asp767=) c.2212G= (p.Asp738=) n.3488G= | |
17 | g.39727385G>T | CA8534510 | ERBB2 | c.3250G>T (p.Asp1084Tyr) c.3160G>T (p.Asp1054Tyr) c.2422G>T (p.Asp808Tyr) c.3205G>T (p.Asp1069Tyr) c.*3040G>T (n.*3040G>T) c.3160-304G>T (n.3160-304G>T) n.3574G>T c.3388G>T (p.Asp1130Tyr) c.3343G>T (p.Asp1115Tyr) c.3298G>T (p.Asp1100Tyr) c.3367G>T (p.Asp1123Tyr) c.3352G>T (p.Asp1118Tyr) c.3331G>T (p.Asp1111Tyr) c.3325G>T (p.Asp1109Tyr) c.3280G>T (p.Asp1094Tyr) c.3271G>T (p.Asp1091Tyr) c.3247G>T (p.Asp1083Tyr) c.3241G>T (p.Asp1081Tyr) c.3214G>T (p.Asp1072Tyr) c.3208G>T (p.Asp1070Tyr) c.3202G>T (p.Asp1068Tyr) c.3163G>T (p.Asp1055Tyr) c.3151G>T (p.Asp1051Tyr) c.3094G>T (p.Asp1032Tyr) c.3070G>T (p.Asp1024Tyr) c.3064G>T (p.Asp1022Tyr) c.3046G>T (p.Asp1016Tyr) c.2992G>T (p.Asp998Tyr) c.3118-304G>T (n.3118-304G>T) c.2299G>T (p.Asp767Tyr) c.2212G>T (p.Asp738Tyr) n.3488G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727386A>C | CA399310527 | ERBB2 | c.3251A>C (p.Asp1084Ala) c.3161A>C (p.Asp1054Ala) c.2423A>C (p.Asp808Ala) c.3206A>C (p.Asp1069Ala) c.*3041A>C (n.*3041A>C) c.3160-303A>C (n.3160-303A>C) n.3575A>C c.3389A>C (p.Asp1130Ala) c.3344A>C (p.Asp1115Ala) c.3299A>C (p.Asp1100Ala) c.3368A>C (p.Asp1123Ala) c.3353A>C (p.Asp1118Ala) c.3332A>C (p.Asp1111Ala) c.3326A>C (p.Asp1109Ala) c.3281A>C (p.Asp1094Ala) c.3272A>C (p.Asp1091Ala) c.3248A>C (p.Asp1083Ala) c.3242A>C (p.Asp1081Ala) c.3215A>C (p.Asp1072Ala) c.3209A>C (p.Asp1070Ala) c.3203A>C (p.Asp1068Ala) c.3164A>C (p.Asp1055Ala) c.3152A>C (p.Asp1051Ala) c.3095A>C (p.Asp1032Ala) c.3071A>C (p.Asp1024Ala) c.3065A>C (p.Asp1022Ala) c.3047A>C (p.Asp1016Ala) c.2993A>C (p.Asp998Ala) c.3118-303A>C (n.3118-303A>C) c.2300A>C (p.Asp767Ala) c.2213A>C (p.Asp738Ala) n.3489A>C | |
17 | g.39727386A>G | CA399310529 | ERBB2 | c.3251A>G (p.Asp1084Gly) c.3161A>G (p.Asp1054Gly) c.2423A>G (p.Asp808Gly) c.3206A>G (p.Asp1069Gly) c.*3041A>G (n.*3041A>G) c.3160-303A>G (n.3160-303A>G) n.3575A>G c.3389A>G (p.Asp1130Gly) c.3344A>G (p.Asp1115Gly) c.3299A>G (p.Asp1100Gly) c.3368A>G (p.Asp1123Gly) c.3353A>G (p.Asp1118Gly) c.3332A>G (p.Asp1111Gly) c.3326A>G (p.Asp1109Gly) c.3281A>G (p.Asp1094Gly) c.3272A>G (p.Asp1091Gly) c.3248A>G (p.Asp1083Gly) c.3242A>G (p.Asp1081Gly) c.3215A>G (p.Asp1072Gly) c.3209A>G (p.Asp1070Gly) c.3203A>G (p.Asp1068Gly) c.3164A>G (p.Asp1055Gly) c.3152A>G (p.Asp1051Gly) c.3095A>G (p.Asp1032Gly) c.3071A>G (p.Asp1024Gly) c.3065A>G (p.Asp1022Gly) c.3047A>G (p.Asp1016Gly) c.2993A>G (p.Asp998Gly) c.3118-303A>G (n.3118-303A>G) c.2300A>G (p.Asp767Gly) c.2213A>G (p.Asp738Gly) n.3489A>G | |
17 | g.39727386A>T | CA399310531 | ERBB2 | c.3251A>T (p.Asp1084Val) c.3161A>T (p.Asp1054Val) c.2423A>T (p.Asp808Val) c.3206A>T (p.Asp1069Val) c.*3041A>T (n.*3041A>T) c.3160-303A>T (n.3160-303A>T) n.3575A>T c.3389A>T (p.Asp1130Val) c.3344A>T (p.Asp1115Val) c.3299A>T (p.Asp1100Val) c.3368A>T (p.Asp1123Val) c.3353A>T (p.Asp1118Val) c.3332A>T (p.Asp1111Val) c.3326A>T (p.Asp1109Val) c.3281A>T (p.Asp1094Val) c.3272A>T (p.Asp1091Val) c.3248A>T (p.Asp1083Val) c.3242A>T (p.Asp1081Val) c.3215A>T (p.Asp1072Val) c.3209A>T (p.Asp1070Val) c.3203A>T (p.Asp1068Val) c.3164A>T (p.Asp1055Val) c.3152A>T (p.Asp1051Val) c.3095A>T (p.Asp1032Val) c.3071A>T (p.Asp1024Val) c.3065A>T (p.Asp1022Val) c.3047A>T (p.Asp1016Val) c.2993A>T (p.Asp998Val) c.3118-303A>T (n.3118-303A>T) c.2300A>T (p.Asp767Val) c.2213A>T (p.Asp738Val) n.3489A>T | dbSNP |
17 | g.39727387T>A | CA8534511 | ERBB2 | c.3252T>A (p.Asp1084Glu) c.3162T>A (p.Asp1054Glu) c.2424T>A (p.Asp808Glu) c.3207T>A (p.Asp1069Glu) c.*3042T>A (n.*3042T>A) c.3160-302T>A (n.3160-302T>A) n.3576T>A c.3390T>A (p.Asp1130Glu) c.3345T>A (p.Asp1115Glu) c.3300T>A (p.Asp1100Glu) c.3369T>A (p.Asp1123Glu) c.3354T>A (p.Asp1118Glu) c.3333T>A (p.Asp1111Glu) c.3327T>A (p.Asp1109Glu) c.3282T>A (p.Asp1094Glu) c.3273T>A (p.Asp1091Glu) c.3249T>A (p.Asp1083Glu) c.3243T>A (p.Asp1081Glu) c.3216T>A (p.Asp1072Glu) c.3210T>A (p.Asp1070Glu) c.3204T>A (p.Asp1068Glu) c.3165T>A (p.Asp1055Glu) c.3153T>A (p.Asp1051Glu) c.3096T>A (p.Asp1032Glu) c.3072T>A (p.Asp1024Glu) c.3066T>A (p.Asp1022Glu) c.3048T>A (p.Asp1016Glu) c.2994T>A (p.Asp998Glu) c.3118-302T>A (n.3118-302T>A) c.2301T>A (p.Asp767Glu) c.2214T>A (p.Asp738Glu) n.3490T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727387T>C | CA290443280 | ERBB2 | c.3252T>C (p.Asp1084=) c.3162T>C (p.Asp1054=) c.2424T>C (p.Asp808=) c.3207T>C (p.Asp1069=) c.*3042T>C (n.*3042T>C) c.3160-302T>C (n.3160-302T>C) n.3576T>C c.3390T>C (p.Asp1130=) c.3345T>C (p.Asp1115=) c.3300T>C (p.Asp1100=) c.3369T>C (p.Asp1123=) c.3354T>C (p.Asp1118=) c.3333T>C (p.Asp1111=) c.3327T>C (p.Asp1109=) c.3282T>C (p.Asp1094=) c.3273T>C (p.Asp1091=) c.3249T>C (p.Asp1083=) c.3243T>C (p.Asp1081=) c.3216T>C (p.Asp1072=) c.3210T>C (p.Asp1070=) c.3204T>C (p.Asp1068=) c.3165T>C (p.Asp1055=) c.3153T>C (p.Asp1051=) c.3096T>C (p.Asp1032=) c.3072T>C (p.Asp1024=) c.3066T>C (p.Asp1022=) c.3048T>C (p.Asp1016=) c.2994T>C (p.Asp998=) c.3118-302T>C (n.3118-302T>C) c.2301T>C (p.Asp767=) c.2214T>C (p.Asp738=) n.3490T>C | dbSNP gnomAD v4 |
17 | g.39727387T>G | CA399310536 | ERBB2 | c.3252T>G (p.Asp1084Glu) c.3162T>G (p.Asp1054Glu) c.2424T>G (p.Asp808Glu) c.3207T>G (p.Asp1069Glu) c.*3042T>G (n.*3042T>G) c.3160-302T>G (n.3160-302T>G) n.3576T>G c.3390T>G (p.Asp1130Glu) c.3345T>G (p.Asp1115Glu) c.3300T>G (p.Asp1100Glu) c.3369T>G (p.Asp1123Glu) c.3354T>G (p.Asp1118Glu) c.3333T>G (p.Asp1111Glu) c.3327T>G (p.Asp1109Glu) c.3282T>G (p.Asp1094Glu) c.3273T>G (p.Asp1091Glu) c.3249T>G (p.Asp1083Glu) c.3243T>G (p.Asp1081Glu) c.3216T>G (p.Asp1072Glu) c.3210T>G (p.Asp1070Glu) c.3204T>G (p.Asp1068Glu) c.3165T>G (p.Asp1055Glu) c.3153T>G (p.Asp1051Glu) c.3096T>G (p.Asp1032Glu) c.3072T>G (p.Asp1024Glu) c.3066T>G (p.Asp1022Glu) c.3048T>G (p.Asp1016Glu) c.2994T>G (p.Asp998Glu) c.3118-302T>G (n.3118-302T>G) c.2301T>G (p.Asp767Glu) c.2214T>G (p.Asp738Glu) n.3490T>G | dbSNP |
17 | g.39727387T= | CA2259228754 | ERBB2 | c.3252T= (p.Asp1084=) c.3162T= (p.Asp1054=) c.2424T= (p.Asp808=) c.3207T= (p.Asp1069=) c.*3042T= (n.*3042T=) c.3160-302T= (n.3160-302T=) n.3576T= c.3390T= (p.Asp1130=) c.3345T= (p.Asp1115=) c.3300T= (p.Asp1100=) c.3369T= (p.Asp1123=) c.3354T= (p.Asp1118=) c.3333T= (p.Asp1111=) c.3327T= (p.Asp1109=) c.3282T= (p.Asp1094=) c.3273T= (p.Asp1091=) c.3249T= (p.Asp1083=) c.3243T= (p.Asp1081=) c.3216T= (p.Asp1072=) c.3210T= (p.Asp1070=) c.3204T= (p.Asp1068=) c.3165T= (p.Asp1055=) c.3153T= (p.Asp1051=) c.3096T= (p.Asp1032=) c.3072T= (p.Asp1024=) c.3066T= (p.Asp1022=) c.3048T= (p.Asp1016=) c.2994T= (p.Asp998=) c.3118-302T= (n.3118-302T=) c.2301T= (p.Asp767=) c.2214T= (p.Asp738=) n.3490T= | |
17 | g.39727388G>A | CA399310546 | ERBB2 | c.3253G>A (p.Val1085Ile) c.3163G>A (p.Val1055Ile) c.2425G>A (p.Val809Ile) c.3208G>A (p.Val1070Ile) c.*3043G>A (n.*3043G>A) c.3160-301G>A (n.3160-301G>A) n.3577G>A c.3391G>A (p.Val1131Ile) c.3346G>A (p.Val1116Ile) c.3301G>A (p.Val1101Ile) c.3370G>A (p.Val1124Ile) c.3355G>A (p.Val1119Ile) c.3334G>A (p.Val1112Ile) c.3328G>A (p.Val1110Ile) c.3283G>A (p.Val1095Ile) c.3274G>A (p.Val1092Ile) c.3250G>A (p.Val1084Ile) c.3244G>A (p.Val1082Ile) c.3217G>A (p.Val1073Ile) c.3211G>A (p.Val1071Ile) c.3205G>A (p.Val1069Ile) c.3166G>A (p.Val1056Ile) c.3154G>A (p.Val1052Ile) c.3097G>A (p.Val1033Ile) c.3073G>A (p.Val1025Ile) c.3067G>A (p.Val1023Ile) c.3049G>A (p.Val1017Ile) c.2995G>A (p.Val999Ile) c.3118-301G>A (n.3118-301G>A) c.2302G>A (p.Val768Ile) c.2215G>A (p.Val739Ile) n.3491G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727388G>C | CA399310542 | ERBB2 | c.3253G>C (p.Val1085Leu) c.3163G>C (p.Val1055Leu) c.2425G>C (p.Val809Leu) c.3208G>C (p.Val1070Leu) c.*3043G>C (n.*3043G>C) c.3160-301G>C (n.3160-301G>C) n.3577G>C c.3391G>C (p.Val1131Leu) c.3346G>C (p.Val1116Leu) c.3301G>C (p.Val1101Leu) c.3370G>C (p.Val1124Leu) c.3355G>C (p.Val1119Leu) c.3334G>C (p.Val1112Leu) c.3328G>C (p.Val1110Leu) c.3283G>C (p.Val1095Leu) c.3274G>C (p.Val1092Leu) c.3250G>C (p.Val1084Leu) c.3244G>C (p.Val1082Leu) c.3217G>C (p.Val1073Leu) c.3211G>C (p.Val1071Leu) c.3205G>C (p.Val1069Leu) c.3166G>C (p.Val1056Leu) c.3154G>C (p.Val1052Leu) c.3097G>C (p.Val1033Leu) c.3073G>C (p.Val1025Leu) c.3067G>C (p.Val1023Leu) c.3049G>C (p.Val1017Leu) c.2995G>C (p.Val999Leu) c.3118-301G>C (n.3118-301G>C) c.2302G>C (p.Val768Leu) c.2215G>C (p.Val739Leu) n.3491G>C | dbSNP |
17 | g.39727388G= | CA2259228758 | ERBB2 | c.3253G= (p.Val1085=) c.3163G= (p.Val1055=) c.2425G= (p.Val809=) c.3208G= (p.Val1070=) c.*3043G= (n.*3043G=) c.3160-301G= (n.3160-301G=) n.3577G= c.3391G= (p.Val1131=) c.3346G= (p.Val1116=) c.3301G= (p.Val1101=) c.3370G= (p.Val1124=) c.3355G= (p.Val1119=) c.3334G= (p.Val1112=) c.3328G= (p.Val1110=) c.3283G= (p.Val1095=) c.3274G= (p.Val1092=) c.3250G= (p.Val1084=) c.3244G= (p.Val1082=) c.3217G= (p.Val1073=) c.3211G= (p.Val1071=) c.3205G= (p.Val1069=) c.3166G= (p.Val1056=) c.3154G= (p.Val1052=) c.3097G= (p.Val1033=) c.3073G= (p.Val1025=) c.3067G= (p.Val1023=) c.3049G= (p.Val1017=) c.2995G= (p.Val999=) c.3118-301G= (n.3118-301G=) c.2302G= (p.Val768=) c.2215G= (p.Val739=) n.3491G= | |
17 | g.39727388G>T | CA399310540 | ERBB2 | c.3253G>T (p.Val1085Leu) c.3163G>T (p.Val1055Leu) c.2425G>T (p.Val809Leu) c.3208G>T (p.Val1070Leu) c.*3043G>T (n.*3043G>T) c.3160-301G>T (n.3160-301G>T) n.3577G>T c.3391G>T (p.Val1131Leu) c.3346G>T (p.Val1116Leu) c.3301G>T (p.Val1101Leu) c.3370G>T (p.Val1124Leu) c.3355G>T (p.Val1119Leu) c.3334G>T (p.Val1112Leu) c.3328G>T (p.Val1110Leu) c.3283G>T (p.Val1095Leu) c.3274G>T (p.Val1092Leu) c.3250G>T (p.Val1084Leu) c.3244G>T (p.Val1082Leu) c.3217G>T (p.Val1073Leu) c.3211G>T (p.Val1071Leu) c.3205G>T (p.Val1069Leu) c.3166G>T (p.Val1056Leu) c.3154G>T (p.Val1052Leu) c.3097G>T (p.Val1033Leu) c.3073G>T (p.Val1025Leu) c.3067G>T (p.Val1023Leu) c.3049G>T (p.Val1017Leu) c.2995G>T (p.Val999Leu) c.3118-301G>T (n.3118-301G>T) c.2302G>T (p.Val768Leu) c.2215G>T (p.Val739Leu) n.3491G>T | |
17 | g.39727389T>A | CA399310548 | ERBB2 | c.3254T>A (p.Val1085Glu) c.3164T>A (p.Val1055Glu) c.2426T>A (p.Val809Glu) c.3209T>A (p.Val1070Glu) c.*3044T>A (n.*3044T>A) c.3160-300T>A (n.3160-300T>A) n.3578T>A c.3392T>A (p.Val1131Glu) c.3347T>A (p.Val1116Glu) c.3302T>A (p.Val1101Glu) c.3371T>A (p.Val1124Glu) c.3356T>A (p.Val1119Glu) c.3335T>A (p.Val1112Glu) c.3329T>A (p.Val1110Glu) c.3284T>A (p.Val1095Glu) c.3275T>A (p.Val1092Glu) c.3251T>A (p.Val1084Glu) c.3245T>A (p.Val1082Glu) c.3218T>A (p.Val1073Glu) c.3212T>A (p.Val1071Glu) c.3206T>A (p.Val1069Glu) c.3167T>A (p.Val1056Glu) c.3155T>A (p.Val1052Glu) c.3098T>A (p.Val1033Glu) c.3074T>A (p.Val1025Glu) c.3068T>A (p.Val1023Glu) c.3050T>A (p.Val1017Glu) c.2996T>A (p.Val999Glu) c.3118-300T>A (n.3118-300T>A) c.2303T>A (p.Val768Glu) c.2216T>A (p.Val739Glu) n.3492T>A | dbSNP |
17 | g.39727389T>C | CA399310551 | ERBB2 | c.3254T>C (p.Val1085Ala) c.3164T>C (p.Val1055Ala) c.2426T>C (p.Val809Ala) c.3209T>C (p.Val1070Ala) c.*3044T>C (n.*3044T>C) c.3160-300T>C (n.3160-300T>C) n.3578T>C c.3392T>C (p.Val1131Ala) c.3347T>C (p.Val1116Ala) c.3302T>C (p.Val1101Ala) c.3371T>C (p.Val1124Ala) c.3356T>C (p.Val1119Ala) c.3335T>C (p.Val1112Ala) c.3329T>C (p.Val1110Ala) c.3284T>C (p.Val1095Ala) c.3275T>C (p.Val1092Ala) c.3251T>C (p.Val1084Ala) c.3245T>C (p.Val1082Ala) c.3218T>C (p.Val1073Ala) c.3212T>C (p.Val1071Ala) c.3206T>C (p.Val1069Ala) c.3167T>C (p.Val1056Ala) c.3155T>C (p.Val1052Ala) c.3098T>C (p.Val1033Ala) c.3074T>C (p.Val1025Ala) c.3068T>C (p.Val1023Ala) c.3050T>C (p.Val1017Ala) c.2996T>C (p.Val999Ala) c.3118-300T>C (n.3118-300T>C) c.2303T>C (p.Val768Ala) c.2216T>C (p.Val739Ala) n.3492T>C | |
17 | g.39727389T>G | CA399310554 | ERBB2 | c.3254T>G (p.Val1085Gly) c.3164T>G (p.Val1055Gly) c.2426T>G (p.Val809Gly) c.3209T>G (p.Val1070Gly) c.*3044T>G (n.*3044T>G) c.3160-300T>G (n.3160-300T>G) n.3578T>G c.3392T>G (p.Val1131Gly) c.3347T>G (p.Val1116Gly) c.3302T>G (p.Val1101Gly) c.3371T>G (p.Val1124Gly) c.3356T>G (p.Val1119Gly) c.3335T>G (p.Val1112Gly) c.3329T>G (p.Val1110Gly) c.3284T>G (p.Val1095Gly) c.3275T>G (p.Val1092Gly) c.3251T>G (p.Val1084Gly) c.3245T>G (p.Val1082Gly) c.3218T>G (p.Val1073Gly) c.3212T>G (p.Val1071Gly) c.3206T>G (p.Val1069Gly) c.3167T>G (p.Val1056Gly) c.3155T>G (p.Val1052Gly) c.3098T>G (p.Val1033Gly) c.3074T>G (p.Val1025Gly) c.3068T>G (p.Val1023Gly) c.3050T>G (p.Val1017Gly) c.2996T>G (p.Val999Gly) c.3118-300T>G (n.3118-300T>G) c.2303T>G (p.Val768Gly) c.2216T>G (p.Val739Gly) n.3492T>G | |
17 | g.39727390A>C | CA499671641 | ERBB2 | c.3255A>C (p.Val1085=) c.3165A>C (p.Val1055=) c.2427A>C (p.Val809=) c.3210A>C (p.Val1070=) c.*3045A>C (n.*3045A>C) c.3160-299A>C (n.3160-299A>C) n.3579A>C c.3393A>C (p.Val1131=) c.3348A>C (p.Val1116=) c.3303A>C (p.Val1101=) c.3372A>C (p.Val1124=) c.3357A>C (p.Val1119=) c.3336A>C (p.Val1112=) c.3330A>C (p.Val1110=) c.3285A>C (p.Val1095=) c.3276A>C (p.Val1092=) c.3252A>C (p.Val1084=) c.3246A>C (p.Val1082=) c.3219A>C (p.Val1073=) c.3213A>C (p.Val1071=) c.3207A>C (p.Val1069=) c.3168A>C (p.Val1056=) c.3156A>C (p.Val1052=) c.3099A>C (p.Val1033=) c.3075A>C (p.Val1025=) c.3069A>C (p.Val1023=) c.3051A>C (p.Val1017=) c.2997A>C (p.Val999=) c.3118-299A>C (n.3118-299A>C) c.2304A>C (p.Val768=) c.2217A>C (p.Val739=) n.3493A>C | dbSNP |
17 | g.39727390A>G | CA499671640 | ERBB2 | c.3255A>G (p.Val1085=) c.3165A>G (p.Val1055=) c.2427A>G (p.Val809=) c.3210A>G (p.Val1070=) c.*3045A>G (n.*3045A>G) c.3160-299A>G (n.3160-299A>G) n.3579A>G c.3393A>G (p.Val1131=) c.3348A>G (p.Val1116=) c.3303A>G (p.Val1101=) c.3372A>G (p.Val1124=) c.3357A>G (p.Val1119=) c.3336A>G (p.Val1112=) c.3330A>G (p.Val1110=) c.3285A>G (p.Val1095=) c.3276A>G (p.Val1092=) c.3252A>G (p.Val1084=) c.3246A>G (p.Val1082=) c.3219A>G (p.Val1073=) c.3213A>G (p.Val1071=) c.3207A>G (p.Val1069=) c.3168A>G (p.Val1056=) c.3156A>G (p.Val1052=) c.3099A>G (p.Val1033=) c.3075A>G (p.Val1025=) c.3069A>G (p.Val1023=) c.3051A>G (p.Val1017=) c.2997A>G (p.Val999=) c.3118-299A>G (n.3118-299A>G) c.2304A>G (p.Val768=) c.2217A>G (p.Val739=) n.3493A>G | dbSNP gnomAD v4 |
17 | g.39727390A>T | CA499671642 | ERBB2 | c.3255A>T (p.Val1085=) c.3165A>T (p.Val1055=) c.2427A>T (p.Val809=) c.3210A>T (p.Val1070=) c.*3045A>T (n.*3045A>T) c.3160-299A>T (n.3160-299A>T) n.3579A>T c.3393A>T (p.Val1131=) c.3348A>T (p.Val1116=) c.3303A>T (p.Val1101=) c.3372A>T (p.Val1124=) c.3357A>T (p.Val1119=) c.3336A>T (p.Val1112=) c.3330A>T (p.Val1110=) c.3285A>T (p.Val1095=) c.3276A>T (p.Val1092=) c.3252A>T (p.Val1084=) c.3246A>T (p.Val1082=) c.3219A>T (p.Val1073=) c.3213A>T (p.Val1071=) c.3207A>T (p.Val1069=) c.3168A>T (p.Val1056=) c.3156A>T (p.Val1052=) c.3099A>T (p.Val1033=) c.3075A>T (p.Val1025=) c.3069A>T (p.Val1023=) c.3051A>T (p.Val1017=) c.2997A>T (p.Val999=) c.3118-299A>T (n.3118-299A>T) c.2304A>T (p.Val768=) c.2217A>T (p.Val739=) n.3493A>T | dbSNP |
17 | g.39727391T>A | CA399310558 | ERBB2 | c.3256T>A (p.Phe1086Ile) c.3166T>A (p.Phe1056Ile) c.2428T>A (p.Phe810Ile) c.3211T>A (p.Phe1071Ile) c.*3046T>A (n.*3046T>A) c.3160-298T>A (n.3160-298T>A) n.3580T>A c.3394T>A (p.Phe1132Ile) c.3349T>A (p.Phe1117Ile) c.3304T>A (p.Phe1102Ile) c.3373T>A (p.Phe1125Ile) c.3358T>A (p.Phe1120Ile) c.3337T>A (p.Phe1113Ile) c.3331T>A (p.Phe1111Ile) c.3286T>A (p.Phe1096Ile) c.3277T>A (p.Phe1093Ile) c.3253T>A (p.Phe1085Ile) c.3247T>A (p.Phe1083Ile) c.3220T>A (p.Phe1074Ile) c.3214T>A (p.Phe1072Ile) c.3208T>A (p.Phe1070Ile) c.3169T>A (p.Phe1057Ile) c.3157T>A (p.Phe1053Ile) c.3100T>A (p.Phe1034Ile) c.3076T>A (p.Phe1026Ile) c.3070T>A (p.Phe1024Ile) c.3052T>A (p.Phe1018Ile) c.2998T>A (p.Phe1000Ile) c.3118-298T>A (n.3118-298T>A) c.2305T>A (p.Phe769Ile) c.2218T>A (p.Phe740Ile) n.3494T>A | dbSNP |
17 | g.39727391T>C | CA399310561 | ERBB2 | c.3256T>C (p.Phe1086Leu) c.3166T>C (p.Phe1056Leu) c.2428T>C (p.Phe810Leu) c.3211T>C (p.Phe1071Leu) c.*3046T>C (n.*3046T>C) c.3160-298T>C (n.3160-298T>C) n.3580T>C c.3394T>C (p.Phe1132Leu) c.3349T>C (p.Phe1117Leu) c.3304T>C (p.Phe1102Leu) c.3373T>C (p.Phe1125Leu) c.3358T>C (p.Phe1120Leu) c.3337T>C (p.Phe1113Leu) c.3331T>C (p.Phe1111Leu) c.3286T>C (p.Phe1096Leu) c.3277T>C (p.Phe1093Leu) c.3253T>C (p.Phe1085Leu) c.3247T>C (p.Phe1083Leu) c.3220T>C (p.Phe1074Leu) c.3214T>C (p.Phe1072Leu) c.3208T>C (p.Phe1070Leu) c.3169T>C (p.Phe1057Leu) c.3157T>C (p.Phe1053Leu) c.3100T>C (p.Phe1034Leu) c.3076T>C (p.Phe1026Leu) c.3070T>C (p.Phe1024Leu) c.3052T>C (p.Phe1018Leu) c.2998T>C (p.Phe1000Leu) c.3118-298T>C (n.3118-298T>C) c.2305T>C (p.Phe769Leu) c.2218T>C (p.Phe740Leu) n.3494T>C | |
17 | g.39727391T>G | CA399310563 | ERBB2 | c.3256T>G (p.Phe1086Val) c.3166T>G (p.Phe1056Val) c.2428T>G (p.Phe810Val) c.3211T>G (p.Phe1071Val) c.*3046T>G (n.*3046T>G) c.3160-298T>G (n.3160-298T>G) n.3580T>G c.3394T>G (p.Phe1132Val) c.3349T>G (p.Phe1117Val) c.3304T>G (p.Phe1102Val) c.3373T>G (p.Phe1125Val) c.3358T>G (p.Phe1120Val) c.3337T>G (p.Phe1113Val) c.3331T>G (p.Phe1111Val) c.3286T>G (p.Phe1096Val) c.3277T>G (p.Phe1093Val) c.3253T>G (p.Phe1085Val) c.3247T>G (p.Phe1083Val) c.3220T>G (p.Phe1074Val) c.3214T>G (p.Phe1072Val) c.3208T>G (p.Phe1070Val) c.3169T>G (p.Phe1057Val) c.3157T>G (p.Phe1053Val) c.3100T>G (p.Phe1034Val) c.3076T>G (p.Phe1026Val) c.3070T>G (p.Phe1024Val) c.3052T>G (p.Phe1018Val) c.2998T>G (p.Phe1000Val) c.3118-298T>G (n.3118-298T>G) c.2305T>G (p.Phe769Val) c.2218T>G (p.Phe740Val) n.3494T>G | |
17 | g.39727392T>A | CA399310566 | ERBB2 | c.3257T>A (p.Phe1086Tyr) c.3167T>A (p.Phe1056Tyr) c.2429T>A (p.Phe810Tyr) c.3212T>A (p.Phe1071Tyr) c.*3047T>A (n.*3047T>A) c.3160-297T>A (n.3160-297T>A) n.3581T>A c.3395T>A (p.Phe1132Tyr) c.3350T>A (p.Phe1117Tyr) c.3305T>A (p.Phe1102Tyr) c.3374T>A (p.Phe1125Tyr) c.3359T>A (p.Phe1120Tyr) c.3338T>A (p.Phe1113Tyr) c.3332T>A (p.Phe1111Tyr) c.3287T>A (p.Phe1096Tyr) c.3278T>A (p.Phe1093Tyr) c.3254T>A (p.Phe1085Tyr) c.3248T>A (p.Phe1083Tyr) c.3221T>A (p.Phe1074Tyr) c.3215T>A (p.Phe1072Tyr) c.3209T>A (p.Phe1070Tyr) c.3170T>A (p.Phe1057Tyr) c.3158T>A (p.Phe1053Tyr) c.3101T>A (p.Phe1034Tyr) c.3077T>A (p.Phe1026Tyr) c.3071T>A (p.Phe1024Tyr) c.3053T>A (p.Phe1018Tyr) c.2999T>A (p.Phe1000Tyr) c.3118-297T>A (n.3118-297T>A) c.2306T>A (p.Phe769Tyr) c.2219T>A (p.Phe740Tyr) n.3495T>A | dbSNP |
17 | g.39727392T>C | CA399310573 | ERBB2 | c.3257T>C (p.Phe1086Ser) c.3167T>C (p.Phe1056Ser) c.2429T>C (p.Phe810Ser) c.3212T>C (p.Phe1071Ser) c.*3047T>C (n.*3047T>C) c.3160-297T>C (n.3160-297T>C) n.3581T>C c.3395T>C (p.Phe1132Ser) c.3350T>C (p.Phe1117Ser) c.3305T>C (p.Phe1102Ser) c.3374T>C (p.Phe1125Ser) c.3359T>C (p.Phe1120Ser) c.3338T>C (p.Phe1113Ser) c.3332T>C (p.Phe1111Ser) c.3287T>C (p.Phe1096Ser) c.3278T>C (p.Phe1093Ser) c.3254T>C (p.Phe1085Ser) c.3248T>C (p.Phe1083Ser) c.3221T>C (p.Phe1074Ser) c.3215T>C (p.Phe1072Ser) c.3209T>C (p.Phe1070Ser) c.3170T>C (p.Phe1057Ser) c.3158T>C (p.Phe1053Ser) c.3101T>C (p.Phe1034Ser) c.3077T>C (p.Phe1026Ser) c.3071T>C (p.Phe1024Ser) c.3053T>C (p.Phe1018Ser) c.2999T>C (p.Phe1000Ser) c.3118-297T>C (n.3118-297T>C) c.2306T>C (p.Phe769Ser) c.2219T>C (p.Phe740Ser) n.3495T>C | |
17 | g.39727392T>G | CA399310568 | ERBB2 | c.3257T>G (p.Phe1086Cys) c.3167T>G (p.Phe1056Cys) c.2429T>G (p.Phe810Cys) c.3212T>G (p.Phe1071Cys) c.*3047T>G (n.*3047T>G) c.3160-297T>G (n.3160-297T>G) n.3581T>G c.3395T>G (p.Phe1132Cys) c.3350T>G (p.Phe1117Cys) c.3305T>G (p.Phe1102Cys) c.3374T>G (p.Phe1125Cys) c.3359T>G (p.Phe1120Cys) c.3338T>G (p.Phe1113Cys) c.3332T>G (p.Phe1111Cys) c.3287T>G (p.Phe1096Cys) c.3278T>G (p.Phe1093Cys) c.3254T>G (p.Phe1085Cys) c.3248T>G (p.Phe1083Cys) c.3221T>G (p.Phe1074Cys) c.3215T>G (p.Phe1072Cys) c.3209T>G (p.Phe1070Cys) c.3170T>G (p.Phe1057Cys) c.3158T>G (p.Phe1053Cys) c.3101T>G (p.Phe1034Cys) c.3077T>G (p.Phe1026Cys) c.3071T>G (p.Phe1024Cys) c.3053T>G (p.Phe1018Cys) c.2999T>G (p.Phe1000Cys) c.3118-297T>G (n.3118-297T>G) c.2306T>G (p.Phe769Cys) c.2219T>G (p.Phe740Cys) n.3495T>G | |
17 | g.39727393T>A | CA399310577 | ERBB2 | c.3258T>A (p.Phe1086Leu) c.3168T>A (p.Phe1056Leu) c.2430T>A (p.Phe810Leu) c.3213T>A (p.Phe1071Leu) c.*3048T>A (n.*3048T>A) c.3160-296T>A (n.3160-296T>A) n.3582T>A c.3396T>A (p.Phe1132Leu) c.3351T>A (p.Phe1117Leu) c.3306T>A (p.Phe1102Leu) c.3375T>A (p.Phe1125Leu) c.3360T>A (p.Phe1120Leu) c.3339T>A (p.Phe1113Leu) c.3333T>A (p.Phe1111Leu) c.3288T>A (p.Phe1096Leu) c.3279T>A (p.Phe1093Leu) c.3255T>A (p.Phe1085Leu) c.3249T>A (p.Phe1083Leu) c.3222T>A (p.Phe1074Leu) c.3216T>A (p.Phe1072Leu) c.3210T>A (p.Phe1070Leu) c.3171T>A (p.Phe1057Leu) c.3159T>A (p.Phe1053Leu) c.3102T>A (p.Phe1034Leu) c.3078T>A (p.Phe1026Leu) c.3072T>A (p.Phe1024Leu) c.3054T>A (p.Phe1018Leu) c.3000T>A (p.Phe1000Leu) c.3118-296T>A (n.3118-296T>A) c.2307T>A (p.Phe769Leu) c.2220T>A (p.Phe740Leu) n.3496T>A | dbSNP |
17 | g.39727393T>C | CA499671643 | ERBB2 | c.3258T>C (p.Phe1086=) c.3168T>C (p.Phe1056=) c.2430T>C (p.Phe810=) c.3213T>C (p.Phe1071=) c.*3048T>C (n.*3048T>C) c.3160-296T>C (n.3160-296T>C) n.3582T>C c.3396T>C (p.Phe1132=) c.3351T>C (p.Phe1117=) c.3306T>C (p.Phe1102=) c.3375T>C (p.Phe1125=) c.3360T>C (p.Phe1120=) c.3339T>C (p.Phe1113=) c.3333T>C (p.Phe1111=) c.3288T>C (p.Phe1096=) c.3279T>C (p.Phe1093=) c.3255T>C (p.Phe1085=) c.3249T>C (p.Phe1083=) c.3222T>C (p.Phe1074=) c.3216T>C (p.Phe1072=) c.3210T>C (p.Phe1070=) c.3171T>C (p.Phe1057=) c.3159T>C (p.Phe1053=) c.3102T>C (p.Phe1034=) c.3078T>C (p.Phe1026=) c.3072T>C (p.Phe1024=) c.3054T>C (p.Phe1018=) c.3000T>C (p.Phe1000=) c.3118-296T>C (n.3118-296T>C) c.2307T>C (p.Phe769=) c.2220T>C (p.Phe740=) n.3496T>C | dbSNP |
17 | g.39727393T>G | CA399310580 | ERBB2 | c.3258T>G (p.Phe1086Leu) c.3168T>G (p.Phe1056Leu) c.2430T>G (p.Phe810Leu) c.3213T>G (p.Phe1071Leu) c.*3048T>G (n.*3048T>G) c.3160-296T>G (n.3160-296T>G) n.3582T>G c.3396T>G (p.Phe1132Leu) c.3351T>G (p.Phe1117Leu) c.3306T>G (p.Phe1102Leu) c.3375T>G (p.Phe1125Leu) c.3360T>G (p.Phe1120Leu) c.3339T>G (p.Phe1113Leu) c.3333T>G (p.Phe1111Leu) c.3288T>G (p.Phe1096Leu) c.3279T>G (p.Phe1093Leu) c.3255T>G (p.Phe1085Leu) c.3249T>G (p.Phe1083Leu) c.3222T>G (p.Phe1074Leu) c.3216T>G (p.Phe1072Leu) c.3210T>G (p.Phe1070Leu) c.3171T>G (p.Phe1057Leu) c.3159T>G (p.Phe1053Leu) c.3102T>G (p.Phe1034Leu) c.3078T>G (p.Phe1026Leu) c.3072T>G (p.Phe1024Leu) c.3054T>G (p.Phe1018Leu) c.3000T>G (p.Phe1000Leu) c.3118-296T>G (n.3118-296T>G) c.2307T>G (p.Phe769Leu) c.2220T>G (p.Phe740Leu) n.3496T>G | |
17 | g.39727394G>A | CA399310585 | ERBB2 | c.3259G>A (p.Asp1087Asn) c.3169G>A (p.Asp1057Asn) c.2431G>A (p.Asp811Asn) c.3214G>A (p.Asp1072Asn) c.*3049G>A (n.*3049G>A) c.3160-295G>A (n.3160-295G>A) n.3583G>A c.3397G>A (p.Asp1133Asn) c.3352G>A (p.Asp1118Asn) c.3307G>A (p.Asp1103Asn) c.3376G>A (p.Asp1126Asn) c.3361G>A (p.Asp1121Asn) c.3340G>A (p.Asp1114Asn) c.3334G>A (p.Asp1112Asn) c.3289G>A (p.Asp1097Asn) c.3280G>A (p.Asp1094Asn) c.3256G>A (p.Asp1086Asn) c.3250G>A (p.Asp1084Asn) c.3223G>A (p.Asp1075Asn) c.3217G>A (p.Asp1073Asn) c.3211G>A (p.Asp1071Asn) c.3172G>A (p.Asp1058Asn) c.3160G>A (p.Asp1054Asn) c.3103G>A (p.Asp1035Asn) c.3079G>A (p.Asp1027Asn) c.3073G>A (p.Asp1025Asn) c.3055G>A (p.Asp1019Asn) c.3001G>A (p.Asp1001Asn) c.3118-295G>A (n.3118-295G>A) c.2308G>A (p.Asp770Asn) c.2221G>A (p.Asp741Asn) n.3497G>A | dbSNP |
17 | g.39727394G>C | CA399310586 | ERBB2 | c.3259G>C (p.Asp1087His) c.3169G>C (p.Asp1057His) c.2431G>C (p.Asp811His) c.3214G>C (p.Asp1072His) c.*3049G>C (n.*3049G>C) c.3160-295G>C (n.3160-295G>C) n.3583G>C c.3397G>C (p.Asp1133His) c.3352G>C (p.Asp1118His) c.3307G>C (p.Asp1103His) c.3376G>C (p.Asp1126His) c.3361G>C (p.Asp1121His) c.3340G>C (p.Asp1114His) c.3334G>C (p.Asp1112His) c.3289G>C (p.Asp1097His) c.3280G>C (p.Asp1094His) c.3256G>C (p.Asp1086His) c.3250G>C (p.Asp1084His) c.3223G>C (p.Asp1075His) c.3217G>C (p.Asp1073His) c.3211G>C (p.Asp1071His) c.3172G>C (p.Asp1058His) c.3160G>C (p.Asp1054His) c.3103G>C (p.Asp1035His) c.3079G>C (p.Asp1027His) c.3073G>C (p.Asp1025His) c.3055G>C (p.Asp1019His) c.3001G>C (p.Asp1001His) c.3118-295G>C (n.3118-295G>C) c.2308G>C (p.Asp770His) c.2221G>C (p.Asp741His) n.3497G>C | dbSNP |
17 | g.39727394G= | CA2259228762 | ERBB2 | c.3259G= (p.Asp1087=) c.3169G= (p.Asp1057=) c.2431G= (p.Asp811=) c.3214G= (p.Asp1072=) c.*3049G= (n.*3049G=) c.3160-295G= (n.3160-295G=) n.3583G= c.3397G= (p.Asp1133=) c.3352G= (p.Asp1118=) c.3307G= (p.Asp1103=) c.3376G= (p.Asp1126=) c.3361G= (p.Asp1121=) c.3340G= (p.Asp1114=) c.3334G= (p.Asp1112=) c.3289G= (p.Asp1097=) c.3280G= (p.Asp1094=) c.3256G= (p.Asp1086=) c.3250G= (p.Asp1084=) c.3223G= (p.Asp1075=) c.3217G= (p.Asp1073=) c.3211G= (p.Asp1071=) c.3172G= (p.Asp1058=) c.3160G= (p.Asp1054=) c.3103G= (p.Asp1035=) c.3079G= (p.Asp1027=) c.3073G= (p.Asp1025=) c.3055G= (p.Asp1019=) c.3001G= (p.Asp1001=) c.3118-295G= (n.3118-295G=) c.2308G= (p.Asp770=) c.2221G= (p.Asp741=) n.3497G= | |
17 | g.39727394G>T | CA399310589 | ERBB2 | c.3259G>T (p.Asp1087Tyr) c.3169G>T (p.Asp1057Tyr) c.2431G>T (p.Asp811Tyr) c.3214G>T (p.Asp1072Tyr) c.*3049G>T (n.*3049G>T) c.3160-295G>T (n.3160-295G>T) n.3583G>T c.3397G>T (p.Asp1133Tyr) c.3352G>T (p.Asp1118Tyr) c.3307G>T (p.Asp1103Tyr) c.3376G>T (p.Asp1126Tyr) c.3361G>T (p.Asp1121Tyr) c.3340G>T (p.Asp1114Tyr) c.3334G>T (p.Asp1112Tyr) c.3289G>T (p.Asp1097Tyr) c.3280G>T (p.Asp1094Tyr) c.3256G>T (p.Asp1086Tyr) c.3250G>T (p.Asp1084Tyr) c.3223G>T (p.Asp1075Tyr) c.3217G>T (p.Asp1073Tyr) c.3211G>T (p.Asp1071Tyr) c.3172G>T (p.Asp1058Tyr) c.3160G>T (p.Asp1054Tyr) c.3103G>T (p.Asp1035Tyr) c.3079G>T (p.Asp1027Tyr) c.3073G>T (p.Asp1025Tyr) c.3055G>T (p.Asp1019Tyr) c.3001G>T (p.Asp1001Tyr) c.3118-295G>T (n.3118-295G>T) c.2308G>T (p.Asp770Tyr) c.2221G>T (p.Asp741Tyr) n.3497G>T | dbSNP |
17 | g.39727395A>C | CA399310593 | ERBB2 | c.3260A>C (p.Asp1087Ala) c.3170A>C (p.Asp1057Ala) c.2432A>C (p.Asp811Ala) c.3215A>C (p.Asp1072Ala) c.*3050A>C (n.*3050A>C) c.3160-294A>C (n.3160-294A>C) n.3584A>C c.3398A>C (p.Asp1133Ala) c.3353A>C (p.Asp1118Ala) c.3308A>C (p.Asp1103Ala) c.3377A>C (p.Asp1126Ala) c.3362A>C (p.Asp1121Ala) c.3341A>C (p.Asp1114Ala) c.3335A>C (p.Asp1112Ala) c.3290A>C (p.Asp1097Ala) c.3281A>C (p.Asp1094Ala) c.3257A>C (p.Asp1086Ala) c.3251A>C (p.Asp1084Ala) c.3224A>C (p.Asp1075Ala) c.3218A>C (p.Asp1073Ala) c.3212A>C (p.Asp1071Ala) c.3173A>C (p.Asp1058Ala) c.3161A>C (p.Asp1054Ala) c.3104A>C (p.Asp1035Ala) c.3080A>C (p.Asp1027Ala) c.3074A>C (p.Asp1025Ala) c.3056A>C (p.Asp1019Ala) c.3002A>C (p.Asp1001Ala) c.3118-294A>C (n.3118-294A>C) c.2309A>C (p.Asp770Ala) c.2222A>C (p.Asp741Ala) n.3498A>C | dbSNP |
17 | g.39727395A>G | CA399310594 | ERBB2 | c.3260A>G (p.Asp1087Gly) c.3170A>G (p.Asp1057Gly) c.2432A>G (p.Asp811Gly) c.3215A>G (p.Asp1072Gly) c.*3050A>G (n.*3050A>G) c.3160-294A>G (n.3160-294A>G) n.3584A>G c.3398A>G (p.Asp1133Gly) c.3353A>G (p.Asp1118Gly) c.3308A>G (p.Asp1103Gly) c.3377A>G (p.Asp1126Gly) c.3362A>G (p.Asp1121Gly) c.3341A>G (p.Asp1114Gly) c.3335A>G (p.Asp1112Gly) c.3290A>G (p.Asp1097Gly) c.3281A>G (p.Asp1094Gly) c.3257A>G (p.Asp1086Gly) c.3251A>G (p.Asp1084Gly) c.3224A>G (p.Asp1075Gly) c.3218A>G (p.Asp1073Gly) c.3212A>G (p.Asp1071Gly) c.3173A>G (p.Asp1058Gly) c.3161A>G (p.Asp1054Gly) c.3104A>G (p.Asp1035Gly) c.3080A>G (p.Asp1027Gly) c.3074A>G (p.Asp1025Gly) c.3056A>G (p.Asp1019Gly) c.3002A>G (p.Asp1001Gly) c.3118-294A>G (n.3118-294A>G) c.2309A>G (p.Asp770Gly) c.2222A>G (p.Asp741Gly) n.3498A>G | dbSNP |
17 | g.39727395A>T | CA399310598 | ERBB2 | c.3260A>T (p.Asp1087Val) c.3170A>T (p.Asp1057Val) c.2432A>T (p.Asp811Val) c.3215A>T (p.Asp1072Val) c.*3050A>T (n.*3050A>T) c.3160-294A>T (n.3160-294A>T) n.3584A>T c.3398A>T (p.Asp1133Val) c.3353A>T (p.Asp1118Val) c.3308A>T (p.Asp1103Val) c.3377A>T (p.Asp1126Val) c.3362A>T (p.Asp1121Val) c.3341A>T (p.Asp1114Val) c.3335A>T (p.Asp1112Val) c.3290A>T (p.Asp1097Val) c.3281A>T (p.Asp1094Val) c.3257A>T (p.Asp1086Val) c.3251A>T (p.Asp1084Val) c.3224A>T (p.Asp1075Val) c.3218A>T (p.Asp1073Val) c.3212A>T (p.Asp1071Val) c.3173A>T (p.Asp1058Val) c.3161A>T (p.Asp1054Val) c.3104A>T (p.Asp1035Val) c.3080A>T (p.Asp1027Val) c.3074A>T (p.Asp1025Val) c.3056A>T (p.Asp1019Val) c.3002A>T (p.Asp1001Val) c.3118-294A>T (n.3118-294A>T) c.2309A>T (p.Asp770Val) c.2222A>T (p.Asp741Val) n.3498A>T | dbSNP |
17 | g.39727396T>A | CA399310601 | ERBB2 | c.3261T>A (p.Asp1087Glu) c.3171T>A (p.Asp1057Glu) c.2433T>A (p.Asp811Glu) c.3216T>A (p.Asp1072Glu) c.*3051T>A (n.*3051T>A) c.3160-293T>A (n.3160-293T>A) n.3585T>A c.3399T>A (p.Asp1133Glu) c.3354T>A (p.Asp1118Glu) c.3309T>A (p.Asp1103Glu) c.3378T>A (p.Asp1126Glu) c.3363T>A (p.Asp1121Glu) c.3342T>A (p.Asp1114Glu) c.3336T>A (p.Asp1112Glu) c.3291T>A (p.Asp1097Glu) c.3282T>A (p.Asp1094Glu) c.3258T>A (p.Asp1086Glu) c.3252T>A (p.Asp1084Glu) c.3225T>A (p.Asp1075Glu) c.3219T>A (p.Asp1073Glu) c.3213T>A (p.Asp1071Glu) c.3174T>A (p.Asp1058Glu) c.3162T>A (p.Asp1054Glu) c.3105T>A (p.Asp1035Glu) c.3081T>A (p.Asp1027Glu) c.3075T>A (p.Asp1025Glu) c.3057T>A (p.Asp1019Glu) c.3003T>A (p.Asp1001Glu) c.3118-293T>A (n.3118-293T>A) c.2310T>A (p.Asp770Glu) c.2223T>A (p.Asp741Glu) n.3499T>A | gnomAD v4 |
17 | g.39727396T>C | CA499671644 | ERBB2 | c.3261T>C (p.Asp1087=) c.3171T>C (p.Asp1057=) c.2433T>C (p.Asp811=) c.3216T>C (p.Asp1072=) c.*3051T>C (n.*3051T>C) c.3160-293T>C (n.3160-293T>C) n.3585T>C c.3399T>C (p.Asp1133=) c.3354T>C (p.Asp1118=) c.3309T>C (p.Asp1103=) c.3378T>C (p.Asp1126=) c.3363T>C (p.Asp1121=) c.3342T>C (p.Asp1114=) c.3336T>C (p.Asp1112=) c.3291T>C (p.Asp1097=) c.3282T>C (p.Asp1094=) c.3258T>C (p.Asp1086=) c.3252T>C (p.Asp1084=) c.3225T>C (p.Asp1075=) c.3219T>C (p.Asp1073=) c.3213T>C (p.Asp1071=) c.3174T>C (p.Asp1058=) c.3162T>C (p.Asp1054=) c.3105T>C (p.Asp1035=) c.3081T>C (p.Asp1027=) c.3075T>C (p.Asp1025=) c.3057T>C (p.Asp1019=) c.3003T>C (p.Asp1001=) c.3118-293T>C (n.3118-293T>C) c.2310T>C (p.Asp770=) c.2223T>C (p.Asp741=) n.3499T>C | |
17 | g.39727396T>G | CA399310604 | ERBB2 | c.3261T>G (p.Asp1087Glu) c.3171T>G (p.Asp1057Glu) c.2433T>G (p.Asp811Glu) c.3216T>G (p.Asp1072Glu) c.*3051T>G (n.*3051T>G) c.3160-293T>G (n.3160-293T>G) n.3585T>G c.3399T>G (p.Asp1133Glu) c.3354T>G (p.Asp1118Glu) c.3309T>G (p.Asp1103Glu) c.3378T>G (p.Asp1126Glu) c.3363T>G (p.Asp1121Glu) c.3342T>G (p.Asp1114Glu) c.3336T>G (p.Asp1112Glu) c.3291T>G (p.Asp1097Glu) c.3282T>G (p.Asp1094Glu) c.3258T>G (p.Asp1086Glu) c.3252T>G (p.Asp1084Glu) c.3225T>G (p.Asp1075Glu) c.3219T>G (p.Asp1073Glu) c.3213T>G (p.Asp1071Glu) c.3174T>G (p.Asp1058Glu) c.3162T>G (p.Asp1054Glu) c.3105T>G (p.Asp1035Glu) c.3081T>G (p.Asp1027Glu) c.3075T>G (p.Asp1025Glu) c.3057T>G (p.Asp1019Glu) c.3003T>G (p.Asp1001Glu) c.3118-293T>G (n.3118-293T>G) c.2310T>G (p.Asp770Glu) c.2223T>G (p.Asp741Glu) n.3499T>G | |
17 | g.39727397G>A | CA399310607 | ERBB2 | c.3262G>A (p.Gly1088Ser) c.3172G>A (p.Gly1058Ser) c.2434G>A (p.Gly812Ser) c.3217G>A (p.Gly1073Ser) c.*3052G>A (n.*3052G>A) c.3160-292G>A (n.3160-292G>A) n.3586G>A c.3400G>A (p.Gly1134Ser) c.3355G>A (p.Gly1119Ser) c.3310G>A (p.Gly1104Ser) c.3379G>A (p.Gly1127Ser) c.3364G>A (p.Gly1122Ser) c.3343G>A (p.Gly1115Ser) c.3337G>A (p.Gly1113Ser) c.3292G>A (p.Gly1098Ser) c.3283G>A (p.Gly1095Ser) c.3259G>A (p.Gly1087Ser) c.3253G>A (p.Gly1085Ser) c.3226G>A (p.Gly1076Ser) c.3220G>A (p.Gly1074Ser) c.3214G>A (p.Gly1072Ser) c.3175G>A (p.Gly1059Ser) c.3163G>A (p.Gly1055Ser) c.3106G>A (p.Gly1036Ser) c.3082G>A (p.Gly1028Ser) c.3076G>A (p.Gly1026Ser) c.3058G>A (p.Gly1020Ser) c.3004G>A (p.Gly1002Ser) c.3118-292G>A (n.3118-292G>A) c.2311G>A (p.Gly771Ser) c.2224G>A (p.Gly742Ser) n.3500G>A | dbSNP |
17 | g.39727397G>C | CA399310611 | ERBB2 | c.3262G>C (p.Gly1088Arg) c.3172G>C (p.Gly1058Arg) c.2434G>C (p.Gly812Arg) c.3217G>C (p.Gly1073Arg) c.*3052G>C (n.*3052G>C) c.3160-292G>C (n.3160-292G>C) n.3586G>C c.3400G>C (p.Gly1134Arg) c.3355G>C (p.Gly1119Arg) c.3310G>C (p.Gly1104Arg) c.3379G>C (p.Gly1127Arg) c.3364G>C (p.Gly1122Arg) c.3343G>C (p.Gly1115Arg) c.3337G>C (p.Gly1113Arg) c.3292G>C (p.Gly1098Arg) c.3283G>C (p.Gly1095Arg) c.3259G>C (p.Gly1087Arg) c.3253G>C (p.Gly1085Arg) c.3226G>C (p.Gly1076Arg) c.3220G>C (p.Gly1074Arg) c.3214G>C (p.Gly1072Arg) c.3175G>C (p.Gly1059Arg) c.3163G>C (p.Gly1055Arg) c.3106G>C (p.Gly1036Arg) c.3082G>C (p.Gly1028Arg) c.3076G>C (p.Gly1026Arg) c.3058G>C (p.Gly1020Arg) c.3004G>C (p.Gly1002Arg) c.3118-292G>C (n.3118-292G>C) c.2311G>C (p.Gly771Arg) c.2224G>C (p.Gly742Arg) n.3500G>C | |
17 | g.39727397G= | CA2259228764 | ERBB2 | c.3262G= (p.Gly1088=) c.3172G= (p.Gly1058=) c.2434G= (p.Gly812=) c.3217G= (p.Gly1073=) c.*3052G= (n.*3052G=) c.3160-292G= (n.3160-292G=) n.3586G= c.3400G= (p.Gly1134=) c.3355G= (p.Gly1119=) c.3310G= (p.Gly1104=) c.3379G= (p.Gly1127=) c.3364G= (p.Gly1122=) c.3343G= (p.Gly1115=) c.3337G= (p.Gly1113=) c.3292G= (p.Gly1098=) c.3283G= (p.Gly1095=) c.3259G= (p.Gly1087=) c.3253G= (p.Gly1085=) c.3226G= (p.Gly1076=) c.3220G= (p.Gly1074=) c.3214G= (p.Gly1072=) c.3175G= (p.Gly1059=) c.3163G= (p.Gly1055=) c.3106G= (p.Gly1036=) c.3082G= (p.Gly1028=) c.3076G= (p.Gly1026=) c.3058G= (p.Gly1020=) c.3004G= (p.Gly1002=) c.3118-292G= (n.3118-292G=) c.2311G= (p.Gly771=) c.2224G= (p.Gly742=) n.3500G= | |
17 | g.39727397G>T | CA399310609 | ERBB2 | c.3262G>T (p.Gly1088Cys) c.3172G>T (p.Gly1058Cys) c.2434G>T (p.Gly812Cys) c.3217G>T (p.Gly1073Cys) c.*3052G>T (n.*3052G>T) c.3160-292G>T (n.3160-292G>T) n.3586G>T c.3400G>T (p.Gly1134Cys) c.3355G>T (p.Gly1119Cys) c.3310G>T (p.Gly1104Cys) c.3379G>T (p.Gly1127Cys) c.3364G>T (p.Gly1122Cys) c.3343G>T (p.Gly1115Cys) c.3337G>T (p.Gly1113Cys) c.3292G>T (p.Gly1098Cys) c.3283G>T (p.Gly1095Cys) c.3259G>T (p.Gly1087Cys) c.3253G>T (p.Gly1085Cys) c.3226G>T (p.Gly1076Cys) c.3220G>T (p.Gly1074Cys) c.3214G>T (p.Gly1072Cys) c.3175G>T (p.Gly1059Cys) c.3163G>T (p.Gly1055Cys) c.3106G>T (p.Gly1036Cys) c.3082G>T (p.Gly1028Cys) c.3076G>T (p.Gly1026Cys) c.3058G>T (p.Gly1020Cys) c.3004G>T (p.Gly1002Cys) c.3118-292G>T (n.3118-292G>T) c.2311G>T (p.Gly771Cys) c.2224G>T (p.Gly742Cys) n.3500G>T | |
17 | g.39727398G>A | CA8534512 | ERBB2 | c.3263G>A (p.Gly1088Asp) c.3173G>A (p.Gly1058Asp) c.2435G>A (p.Gly812Asp) c.3218G>A (p.Gly1073Asp) c.*3053G>A (n.*3053G>A) c.3160-291G>A (n.3160-291G>A) n.3587G>A c.3401G>A (p.Gly1134Asp) c.3356G>A (p.Gly1119Asp) c.3311G>A (p.Gly1104Asp) c.3380G>A (p.Gly1127Asp) c.3365G>A (p.Gly1122Asp) c.3344G>A (p.Gly1115Asp) c.3338G>A (p.Gly1113Asp) c.3293G>A (p.Gly1098Asp) c.3284G>A (p.Gly1095Asp) c.3260G>A (p.Gly1087Asp) c.3254G>A (p.Gly1085Asp) c.3227G>A (p.Gly1076Asp) c.3221G>A (p.Gly1074Asp) c.3215G>A (p.Gly1072Asp) c.3176G>A (p.Gly1059Asp) c.3164G>A (p.Gly1055Asp) c.3107G>A (p.Gly1036Asp) c.3083G>A (p.Gly1028Asp) c.3077G>A (p.Gly1026Asp) c.3059G>A (p.Gly1020Asp) c.3005G>A (p.Gly1002Asp) c.3118-291G>A (n.3118-291G>A) c.2312G>A (p.Gly771Asp) c.2225G>A (p.Gly742Asp) n.3501G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727398G>C | CA399310618 | ERBB2 | c.3263G>C (p.Gly1088Ala) c.3173G>C (p.Gly1058Ala) c.2435G>C (p.Gly812Ala) c.3218G>C (p.Gly1073Ala) c.*3053G>C (n.*3053G>C) c.3160-291G>C (n.3160-291G>C) n.3587G>C c.3401G>C (p.Gly1134Ala) c.3356G>C (p.Gly1119Ala) c.3311G>C (p.Gly1104Ala) c.3380G>C (p.Gly1127Ala) c.3365G>C (p.Gly1122Ala) c.3344G>C (p.Gly1115Ala) c.3338G>C (p.Gly1113Ala) c.3293G>C (p.Gly1098Ala) c.3284G>C (p.Gly1095Ala) c.3260G>C (p.Gly1087Ala) c.3254G>C (p.Gly1085Ala) c.3227G>C (p.Gly1076Ala) c.3221G>C (p.Gly1074Ala) c.3215G>C (p.Gly1072Ala) c.3176G>C (p.Gly1059Ala) c.3164G>C (p.Gly1055Ala) c.3107G>C (p.Gly1036Ala) c.3083G>C (p.Gly1028Ala) c.3077G>C (p.Gly1026Ala) c.3059G>C (p.Gly1020Ala) c.3005G>C (p.Gly1002Ala) c.3118-291G>C (n.3118-291G>C) c.2312G>C (p.Gly771Ala) c.2225G>C (p.Gly742Ala) n.3501G>C | dbSNP |
17 | g.39727398G= | CA2259228766 | ERBB2 | c.3263G= (p.Gly1088=) c.3173G= (p.Gly1058=) c.2435G= (p.Gly812=) c.3218G= (p.Gly1073=) c.*3053G= (n.*3053G=) c.3160-291G= (n.3160-291G=) n.3587G= c.3401G= (p.Gly1134=) c.3356G= (p.Gly1119=) c.3311G= (p.Gly1104=) c.3380G= (p.Gly1127=) c.3365G= (p.Gly1122=) c.3344G= (p.Gly1115=) c.3338G= (p.Gly1113=) c.3293G= (p.Gly1098=) c.3284G= (p.Gly1095=) c.3260G= (p.Gly1087=) c.3254G= (p.Gly1085=) c.3227G= (p.Gly1076=) c.3221G= (p.Gly1074=) c.3215G= (p.Gly1072=) c.3176G= (p.Gly1059=) c.3164G= (p.Gly1055=) c.3107G= (p.Gly1036=) c.3083G= (p.Gly1028=) c.3077G= (p.Gly1026=) c.3059G= (p.Gly1020=) c.3005G= (p.Gly1002=) c.3118-291G= (n.3118-291G=) c.2312G= (p.Gly771=) c.2225G= (p.Gly742=) n.3501G= | |
17 | g.39727398G>T | CA399310621 | ERBB2 | c.3263G>T (p.Gly1088Val) c.3173G>T (p.Gly1058Val) c.2435G>T (p.Gly812Val) c.3218G>T (p.Gly1073Val) c.*3053G>T (n.*3053G>T) c.3160-291G>T (n.3160-291G>T) n.3587G>T c.3401G>T (p.Gly1134Val) c.3356G>T (p.Gly1119Val) c.3311G>T (p.Gly1104Val) c.3380G>T (p.Gly1127Val) c.3365G>T (p.Gly1122Val) c.3344G>T (p.Gly1115Val) c.3338G>T (p.Gly1113Val) c.3293G>T (p.Gly1098Val) c.3284G>T (p.Gly1095Val) c.3260G>T (p.Gly1087Val) c.3254G>T (p.Gly1085Val) c.3227G>T (p.Gly1076Val) c.3221G>T (p.Gly1074Val) c.3215G>T (p.Gly1072Val) c.3176G>T (p.Gly1059Val) c.3164G>T (p.Gly1055Val) c.3107G>T (p.Gly1036Val) c.3083G>T (p.Gly1028Val) c.3077G>T (p.Gly1026Val) c.3059G>T (p.Gly1020Val) c.3005G>T (p.Gly1002Val) c.3118-291G>T (n.3118-291G>T) c.2312G>T (p.Gly771Val) c.2225G>T (p.Gly742Val) n.3501G>T | dbSNP gnomAD v4 |
17 | g.39727399T>A | CA499671645 | ERBB2 | c.3264T>A (p.Gly1088=) c.3174T>A (p.Gly1058=) c.2436T>A (p.Gly812=) c.3219T>A (p.Gly1073=) c.*3054T>A (n.*3054T>A) c.3160-290T>A (n.3160-290T>A) n.3588T>A c.3402T>A (p.Gly1134=) c.3357T>A (p.Gly1119=) c.3312T>A (p.Gly1104=) c.3381T>A (p.Gly1127=) c.3366T>A (p.Gly1122=) c.3345T>A (p.Gly1115=) c.3339T>A (p.Gly1113=) c.3294T>A (p.Gly1098=) c.3285T>A (p.Gly1095=) c.3261T>A (p.Gly1087=) c.3255T>A (p.Gly1085=) c.3228T>A (p.Gly1076=) c.3222T>A (p.Gly1074=) c.3216T>A (p.Gly1072=) c.3177T>A (p.Gly1059=) c.3165T>A (p.Gly1055=) c.3108T>A (p.Gly1036=) c.3084T>A (p.Gly1028=) c.3078T>A (p.Gly1026=) c.3060T>A (p.Gly1020=) c.3006T>A (p.Gly1002=) c.3118-290T>A (n.3118-290T>A) c.2313T>A (p.Gly771=) c.2226T>A (p.Gly742=) n.3502T>A | dbSNP |
17 | g.39727399T>C | CA499671646 | ERBB2 | c.3264T>C (p.Gly1088=) c.3174T>C (p.Gly1058=) c.2436T>C (p.Gly812=) c.3219T>C (p.Gly1073=) c.*3054T>C (n.*3054T>C) c.3160-290T>C (n.3160-290T>C) n.3588T>C c.3402T>C (p.Gly1134=) c.3357T>C (p.Gly1119=) c.3312T>C (p.Gly1104=) c.3381T>C (p.Gly1127=) c.3366T>C (p.Gly1122=) c.3345T>C (p.Gly1115=) c.3339T>C (p.Gly1113=) c.3294T>C (p.Gly1098=) c.3285T>C (p.Gly1095=) c.3261T>C (p.Gly1087=) c.3255T>C (p.Gly1085=) c.3228T>C (p.Gly1076=) c.3222T>C (p.Gly1074=) c.3216T>C (p.Gly1072=) c.3177T>C (p.Gly1059=) c.3165T>C (p.Gly1055=) c.3108T>C (p.Gly1036=) c.3084T>C (p.Gly1028=) c.3078T>C (p.Gly1026=) c.3060T>C (p.Gly1020=) c.3006T>C (p.Gly1002=) c.3118-290T>C (n.3118-290T>C) c.2313T>C (p.Gly771=) c.2226T>C (p.Gly742=) n.3502T>C | |
17 | g.39727399T>G | CA499671647 | ERBB2 | c.3264T>G (p.Gly1088=) c.3174T>G (p.Gly1058=) c.2436T>G (p.Gly812=) c.3219T>G (p.Gly1073=) c.*3054T>G (n.*3054T>G) c.3160-290T>G (n.3160-290T>G) n.3588T>G c.3402T>G (p.Gly1134=) c.3357T>G (p.Gly1119=) c.3312T>G (p.Gly1104=) c.3381T>G (p.Gly1127=) c.3366T>G (p.Gly1122=) c.3345T>G (p.Gly1115=) c.3339T>G (p.Gly1113=) c.3294T>G (p.Gly1098=) c.3285T>G (p.Gly1095=) c.3261T>G (p.Gly1087=) c.3255T>G (p.Gly1085=) c.3228T>G (p.Gly1076=) c.3222T>G (p.Gly1074=) c.3216T>G (p.Gly1072=) c.3177T>G (p.Gly1059=) c.3165T>G (p.Gly1055=) c.3108T>G (p.Gly1036=) c.3084T>G (p.Gly1028=) c.3078T>G (p.Gly1026=) c.3060T>G (p.Gly1020=) c.3006T>G (p.Gly1002=) c.3118-290T>G (n.3118-290T>G) c.2313T>G (p.Gly771=) c.2226T>G (p.Gly742=) n.3502T>G | dbSNP |
17 | g.39727400G>A | CA399310625 | ERBB2 | c.3265G>A (p.Asp1089Asn) c.3175G>A (p.Asp1059Asn) c.2437G>A (p.Asp813Asn) c.3220G>A (p.Asp1074Asn) c.*3055G>A (n.*3055G>A) c.3160-289G>A (n.3160-289G>A) n.3589G>A c.3403G>A (p.Asp1135Asn) c.3358G>A (p.Asp1120Asn) c.3313G>A (p.Asp1105Asn) c.3382G>A (p.Asp1128Asn) c.3367G>A (p.Asp1123Asn) c.3346G>A (p.Asp1116Asn) c.3340G>A (p.Asp1114Asn) c.3295G>A (p.Asp1099Asn) c.3286G>A (p.Asp1096Asn) c.3262G>A (p.Asp1088Asn) c.3256G>A (p.Asp1086Asn) c.3229G>A (p.Asp1077Asn) c.3223G>A (p.Asp1075Asn) c.3217G>A (p.Asp1073Asn) c.3178G>A (p.Asp1060Asn) c.3166G>A (p.Asp1056Asn) c.3109G>A (p.Asp1037Asn) c.3085G>A (p.Asp1029Asn) c.3079G>A (p.Asp1027Asn) c.3061G>A (p.Asp1021Asn) c.3007G>A (p.Asp1003Asn) c.3118-289G>A (n.3118-289G>A) c.2314G>A (p.Asp772Asn) c.2227G>A (p.Asp743Asn) n.3503G>A | dbSNP |
17 | g.39727400G>C | CA399310627 | ERBB2 | c.3265G>C (p.Asp1089His) c.3175G>C (p.Asp1059His) c.2437G>C (p.Asp813His) c.3220G>C (p.Asp1074His) c.*3055G>C (n.*3055G>C) c.3160-289G>C (n.3160-289G>C) n.3589G>C c.3403G>C (p.Asp1135His) c.3358G>C (p.Asp1120His) c.3313G>C (p.Asp1105His) c.3382G>C (p.Asp1128His) c.3367G>C (p.Asp1123His) c.3346G>C (p.Asp1116His) c.3340G>C (p.Asp1114His) c.3295G>C (p.Asp1099His) c.3286G>C (p.Asp1096His) c.3262G>C (p.Asp1088His) c.3256G>C (p.Asp1086His) c.3229G>C (p.Asp1077His) c.3223G>C (p.Asp1075His) c.3217G>C (p.Asp1073His) c.3178G>C (p.Asp1060His) c.3166G>C (p.Asp1056His) c.3109G>C (p.Asp1037His) c.3085G>C (p.Asp1029His) c.3079G>C (p.Asp1027His) c.3061G>C (p.Asp1021His) c.3007G>C (p.Asp1003His) c.3118-289G>C (n.3118-289G>C) c.2314G>C (p.Asp772His) c.2227G>C (p.Asp743His) n.3503G>C | dbSNP |
17 | g.39727400G>T | CA399310631 | ERBB2 | c.3265G>T (p.Asp1089Tyr) c.3175G>T (p.Asp1059Tyr) c.2437G>T (p.Asp813Tyr) c.3220G>T (p.Asp1074Tyr) c.*3055G>T (n.*3055G>T) c.3160-289G>T (n.3160-289G>T) n.3589G>T c.3403G>T (p.Asp1135Tyr) c.3358G>T (p.Asp1120Tyr) c.3313G>T (p.Asp1105Tyr) c.3382G>T (p.Asp1128Tyr) c.3367G>T (p.Asp1123Tyr) c.3346G>T (p.Asp1116Tyr) c.3340G>T (p.Asp1114Tyr) c.3295G>T (p.Asp1099Tyr) c.3286G>T (p.Asp1096Tyr) c.3262G>T (p.Asp1088Tyr) c.3256G>T (p.Asp1086Tyr) c.3229G>T (p.Asp1077Tyr) c.3223G>T (p.Asp1075Tyr) c.3217G>T (p.Asp1073Tyr) c.3178G>T (p.Asp1060Tyr) c.3166G>T (p.Asp1056Tyr) c.3109G>T (p.Asp1037Tyr) c.3085G>T (p.Asp1029Tyr) c.3079G>T (p.Asp1027Tyr) c.3061G>T (p.Asp1021Tyr) c.3007G>T (p.Asp1003Tyr) c.3118-289G>T (n.3118-289G>T) c.2314G>T (p.Asp772Tyr) c.2227G>T (p.Asp743Tyr) n.3503G>T | |
17 | g.39727401A= | CA2259228767 | ERBB2 | c.3266A= (p.Asp1089=) c.3176A= (p.Asp1059=) c.2438A= (p.Asp813=) c.3221A= (p.Asp1074=) c.*3056A= (n.*3056A=) c.3160-288A= (n.3160-288A=) n.3590A= c.3404A= (p.Asp1135=) c.3359A= (p.Asp1120=) c.3314A= (p.Asp1105=) c.3383A= (p.Asp1128=) c.3368A= (p.Asp1123=) c.3347A= (p.Asp1116=) c.3341A= (p.Asp1114=) c.3296A= (p.Asp1099=) c.3287A= (p.Asp1096=) c.3263A= (p.Asp1088=) c.3257A= (p.Asp1086=) c.3230A= (p.Asp1077=) c.3224A= (p.Asp1075=) c.3218A= (p.Asp1073=) c.3179A= (p.Asp1060=) c.3167A= (p.Asp1056=) c.3110A= (p.Asp1037=) c.3086A= (p.Asp1029=) c.3080A= (p.Asp1027=) c.3062A= (p.Asp1021=) c.3008A= (p.Asp1003=) c.3118-288A= (n.3118-288A=) c.2315A= (p.Asp772=) c.2228A= (p.Asp743=) n.3504A= | |
17 | g.39727401A>C | CA399310640 | ERBB2 | c.3266A>C (p.Asp1089Ala) c.3176A>C (p.Asp1059Ala) c.2438A>C (p.Asp813Ala) c.3221A>C (p.Asp1074Ala) c.*3056A>C (n.*3056A>C) c.3160-288A>C (n.3160-288A>C) n.3590A>C c.3404A>C (p.Asp1135Ala) c.3359A>C (p.Asp1120Ala) c.3314A>C (p.Asp1105Ala) c.3383A>C (p.Asp1128Ala) c.3368A>C (p.Asp1123Ala) c.3347A>C (p.Asp1116Ala) c.3341A>C (p.Asp1114Ala) c.3296A>C (p.Asp1099Ala) c.3287A>C (p.Asp1096Ala) c.3263A>C (p.Asp1088Ala) c.3257A>C (p.Asp1086Ala) c.3230A>C (p.Asp1077Ala) c.3224A>C (p.Asp1075Ala) c.3218A>C (p.Asp1073Ala) c.3179A>C (p.Asp1060Ala) c.3167A>C (p.Asp1056Ala) c.3110A>C (p.Asp1037Ala) c.3086A>C (p.Asp1029Ala) c.3080A>C (p.Asp1027Ala) c.3062A>C (p.Asp1021Ala) c.3008A>C (p.Asp1003Ala) c.3118-288A>C (n.3118-288A>C) c.2315A>C (p.Asp772Ala) c.2228A>C (p.Asp743Ala) n.3504A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727401A>G | CA399310634 | ERBB2 | c.3266A>G (p.Asp1089Gly) c.3176A>G (p.Asp1059Gly) c.2438A>G (p.Asp813Gly) c.3221A>G (p.Asp1074Gly) c.*3056A>G (n.*3056A>G) c.3160-288A>G (n.3160-288A>G) n.3590A>G c.3404A>G (p.Asp1135Gly) c.3359A>G (p.Asp1120Gly) c.3314A>G (p.Asp1105Gly) c.3383A>G (p.Asp1128Gly) c.3368A>G (p.Asp1123Gly) c.3347A>G (p.Asp1116Gly) c.3341A>G (p.Asp1114Gly) c.3296A>G (p.Asp1099Gly) c.3287A>G (p.Asp1096Gly) c.3263A>G (p.Asp1088Gly) c.3257A>G (p.Asp1086Gly) c.3230A>G (p.Asp1077Gly) c.3224A>G (p.Asp1075Gly) c.3218A>G (p.Asp1073Gly) c.3179A>G (p.Asp1060Gly) c.3167A>G (p.Asp1056Gly) c.3110A>G (p.Asp1037Gly) c.3086A>G (p.Asp1029Gly) c.3080A>G (p.Asp1027Gly) c.3062A>G (p.Asp1021Gly) c.3008A>G (p.Asp1003Gly) c.3118-288A>G (n.3118-288A>G) c.2315A>G (p.Asp772Gly) c.2228A>G (p.Asp743Gly) n.3504A>G | dbSNP |
17 | g.39727401A>T | CA399310636 | ERBB2 | c.3266A>T (p.Asp1089Val) c.3176A>T (p.Asp1059Val) c.2438A>T (p.Asp813Val) c.3221A>T (p.Asp1074Val) c.*3056A>T (n.*3056A>T) c.3160-288A>T (n.3160-288A>T) n.3590A>T c.3404A>T (p.Asp1135Val) c.3359A>T (p.Asp1120Val) c.3314A>T (p.Asp1105Val) c.3383A>T (p.Asp1128Val) c.3368A>T (p.Asp1123Val) c.3347A>T (p.Asp1116Val) c.3341A>T (p.Asp1114Val) c.3296A>T (p.Asp1099Val) c.3287A>T (p.Asp1096Val) c.3263A>T (p.Asp1088Val) c.3257A>T (p.Asp1086Val) c.3230A>T (p.Asp1077Val) c.3224A>T (p.Asp1075Val) c.3218A>T (p.Asp1073Val) c.3179A>T (p.Asp1060Val) c.3167A>T (p.Asp1056Val) c.3110A>T (p.Asp1037Val) c.3086A>T (p.Asp1029Val) c.3080A>T (p.Asp1027Val) c.3062A>T (p.Asp1021Val) c.3008A>T (p.Asp1003Val) c.3118-288A>T (n.3118-288A>T) c.2315A>T (p.Asp772Val) c.2228A>T (p.Asp743Val) n.3504A>T | dbSNP |
17 | g.39727402C>A | CA399310642 | ERBB2 | c.3267C>A (p.Asp1089Glu) c.3177C>A (p.Asp1059Glu) c.2439C>A (p.Asp813Glu) c.3222C>A (p.Asp1074Glu) c.*3057C>A (n.*3057C>A) c.3160-287C>A (n.3160-287C>A) n.3591C>A c.3405C>A (p.Asp1135Glu) c.3360C>A (p.Asp1120Glu) c.3315C>A (p.Asp1105Glu) c.3384C>A (p.Asp1128Glu) c.3369C>A (p.Asp1123Glu) c.3348C>A (p.Asp1116Glu) c.3342C>A (p.Asp1114Glu) c.3297C>A (p.Asp1099Glu) c.3288C>A (p.Asp1096Glu) c.3264C>A (p.Asp1088Glu) c.3258C>A (p.Asp1086Glu) c.3231C>A (p.Asp1077Glu) c.3225C>A (p.Asp1075Glu) c.3219C>A (p.Asp1073Glu) c.3180C>A (p.Asp1060Glu) c.3168C>A (p.Asp1056Glu) c.3111C>A (p.Asp1037Glu) c.3087C>A (p.Asp1029Glu) c.3081C>A (p.Asp1027Glu) c.3063C>A (p.Asp1021Glu) c.3009C>A (p.Asp1003Glu) c.3118-287C>A (n.3118-287C>A) c.2316C>A (p.Asp772Glu) c.2229C>A (p.Asp743Glu) n.3505C>A | |
17 | g.39727402C>G | CA399310644 | ERBB2 | c.3267C>G (p.Asp1089Glu) c.3177C>G (p.Asp1059Glu) c.2439C>G (p.Asp813Glu) c.3222C>G (p.Asp1074Glu) c.*3057C>G (n.*3057C>G) c.3160-287C>G (n.3160-287C>G) n.3591C>G c.3405C>G (p.Asp1135Glu) c.3360C>G (p.Asp1120Glu) c.3315C>G (p.Asp1105Glu) c.3384C>G (p.Asp1128Glu) c.3369C>G (p.Asp1123Glu) c.3348C>G (p.Asp1116Glu) c.3342C>G (p.Asp1114Glu) c.3297C>G (p.Asp1099Glu) c.3288C>G (p.Asp1096Glu) c.3264C>G (p.Asp1088Glu) c.3258C>G (p.Asp1086Glu) c.3231C>G (p.Asp1077Glu) c.3225C>G (p.Asp1075Glu) c.3219C>G (p.Asp1073Glu) c.3180C>G (p.Asp1060Glu) c.3168C>G (p.Asp1056Glu) c.3111C>G (p.Asp1037Glu) c.3087C>G (p.Asp1029Glu) c.3081C>G (p.Asp1027Glu) c.3063C>G (p.Asp1021Glu) c.3009C>G (p.Asp1003Glu) c.3118-287C>G (n.3118-287C>G) c.2316C>G (p.Asp772Glu) c.2229C>G (p.Asp743Glu) n.3505C>G | |
17 | g.39727402C>T | CA499671648 | ERBB2 | c.3267C>T (p.Asp1089=) c.3177C>T (p.Asp1059=) c.2439C>T (p.Asp813=) c.3222C>T (p.Asp1074=) c.*3057C>T (n.*3057C>T) c.3160-287C>T (n.3160-287C>T) n.3591C>T c.3405C>T (p.Asp1135=) c.3360C>T (p.Asp1120=) c.3315C>T (p.Asp1105=) c.3384C>T (p.Asp1128=) c.3369C>T (p.Asp1123=) c.3348C>T (p.Asp1116=) c.3342C>T (p.Asp1114=) c.3297C>T (p.Asp1099=) c.3288C>T (p.Asp1096=) c.3264C>T (p.Asp1088=) c.3258C>T (p.Asp1086=) c.3231C>T (p.Asp1077=) c.3225C>T (p.Asp1075=) c.3219C>T (p.Asp1073=) c.3180C>T (p.Asp1060=) c.3168C>T (p.Asp1056=) c.3111C>T (p.Asp1037=) c.3087C>T (p.Asp1029=) c.3081C>T (p.Asp1027=) c.3063C>T (p.Asp1021=) c.3009C>T (p.Asp1003=) c.3118-287C>T (n.3118-287C>T) c.2316C>T (p.Asp772=) c.2229C>T (p.Asp743=) n.3505C>T | dbSNP gnomAD v4 |
17 | g.39727403C>A | CA399310648 | ERBB2 | c.3268C>A (p.Leu1090Met) c.3178C>A (p.Leu1060Met) c.2440C>A (p.Leu814Met) c.3223C>A (p.Leu1075Met) c.*3058C>A (n.*3058C>A) c.3160-286C>A (n.3160-286C>A) n.3592C>A c.3406C>A (p.Leu1136Met) c.3361C>A (p.Leu1121Met) c.3316C>A (p.Leu1106Met) c.3385C>A (p.Leu1129Met) c.3370C>A (p.Leu1124Met) c.3349C>A (p.Leu1117Met) c.3343C>A (p.Leu1115Met) c.3298C>A (p.Leu1100Met) c.3289C>A (p.Leu1097Met) c.3265C>A (p.Leu1089Met) c.3259C>A (p.Leu1087Met) c.3232C>A (p.Leu1078Met) c.3226C>A (p.Leu1076Met) c.3220C>A (p.Leu1074Met) c.3181C>A (p.Leu1061Met) c.3169C>A (p.Leu1057Met) c.3112C>A (p.Leu1038Met) c.3088C>A (p.Leu1030Met) c.3082C>A (p.Leu1028Met) c.3064C>A (p.Leu1022Met) c.3010C>A (p.Leu1004Met) c.3118-286C>A (n.3118-286C>A) c.2317C>A (p.Leu773Met) c.2230C>A (p.Leu744Met) n.3506C>A | |
17 | g.39727403C= | CA2259228769 | ERBB2 | c.3268C= (p.Leu1090=) c.3178C= (p.Leu1060=) c.2440C= (p.Leu814=) c.3223C= (p.Leu1075=) c.*3058C= (n.*3058C=) c.3160-286C= (n.3160-286C=) n.3592C= c.3406C= (p.Leu1136=) c.3361C= (p.Leu1121=) c.3316C= (p.Leu1106=) c.3385C= (p.Leu1129=) c.3370C= (p.Leu1124=) c.3349C= (p.Leu1117=) c.3343C= (p.Leu1115=) c.3298C= (p.Leu1100=) c.3289C= (p.Leu1097=) c.3265C= (p.Leu1089=) c.3259C= (p.Leu1087=) c.3232C= (p.Leu1078=) c.3226C= (p.Leu1076=) c.3220C= (p.Leu1074=) c.3181C= (p.Leu1061=) c.3169C= (p.Leu1057=) c.3112C= (p.Leu1038=) c.3088C= (p.Leu1030=) c.3082C= (p.Leu1028=) c.3064C= (p.Leu1022=) c.3010C= (p.Leu1004=) c.3118-286C= (n.3118-286C=) c.2317C= (p.Leu773=) c.2230C= (p.Leu744=) n.3506C= | |
17 | g.39727403C>G | CA8534513 | ERBB2 | c.3268C>G (p.Leu1090Val) c.3178C>G (p.Leu1060Val) c.2440C>G (p.Leu814Val) c.3223C>G (p.Leu1075Val) c.*3058C>G (n.*3058C>G) c.3160-286C>G (n.3160-286C>G) n.3592C>G c.3406C>G (p.Leu1136Val) c.3361C>G (p.Leu1121Val) c.3316C>G (p.Leu1106Val) c.3385C>G (p.Leu1129Val) c.3370C>G (p.Leu1124Val) c.3349C>G (p.Leu1117Val) c.3343C>G (p.Leu1115Val) c.3298C>G (p.Leu1100Val) c.3289C>G (p.Leu1097Val) c.3265C>G (p.Leu1089Val) c.3259C>G (p.Leu1087Val) c.3232C>G (p.Leu1078Val) c.3226C>G (p.Leu1076Val) c.3220C>G (p.Leu1074Val) c.3181C>G (p.Leu1061Val) c.3169C>G (p.Leu1057Val) c.3112C>G (p.Leu1038Val) c.3088C>G (p.Leu1030Val) c.3082C>G (p.Leu1028Val) c.3064C>G (p.Leu1022Val) c.3010C>G (p.Leu1004Val) c.3118-286C>G (n.3118-286C>G) c.2317C>G (p.Leu773Val) c.2230C>G (p.Leu744Val) n.3506C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727403C>T | CA8534514 | ERBB2 | c.3268C>T (p.Leu1090=) c.3178C>T (p.Leu1060=) c.2440C>T (p.Leu814=) c.3223C>T (p.Leu1075=) c.*3058C>T (n.*3058C>T) c.3160-286C>T (n.3160-286C>T) n.3592C>T c.3406C>T (p.Leu1136=) c.3361C>T (p.Leu1121=) c.3316C>T (p.Leu1106=) c.3385C>T (p.Leu1129=) c.3370C>T (p.Leu1124=) c.3349C>T (p.Leu1117=) c.3343C>T (p.Leu1115=) c.3298C>T (p.Leu1100=) c.3289C>T (p.Leu1097=) c.3265C>T (p.Leu1089=) c.3259C>T (p.Leu1087=) c.3232C>T (p.Leu1078=) c.3226C>T (p.Leu1076=) c.3220C>T (p.Leu1074=) c.3181C>T (p.Leu1061=) c.3169C>T (p.Leu1057=) c.3112C>T (p.Leu1038=) c.3088C>T (p.Leu1030=) c.3082C>T (p.Leu1028=) c.3064C>T (p.Leu1022=) c.3010C>T (p.Leu1004=) c.3118-286C>T (n.3118-286C>T) c.2317C>T (p.Leu773=) c.2230C>T (p.Leu744=) n.3506C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727404T>A | CA399310655 | ERBB2 | c.3269T>A (p.Leu1090Gln) c.3179T>A (p.Leu1060Gln) c.2441T>A (p.Leu814Gln) c.3224T>A (p.Leu1075Gln) c.*3059T>A (n.*3059T>A) c.3160-285T>A (n.3160-285T>A) n.3593T>A c.3407T>A (p.Leu1136Gln) c.3362T>A (p.Leu1121Gln) c.3317T>A (p.Leu1106Gln) c.3386T>A (p.Leu1129Gln) c.3371T>A (p.Leu1124Gln) c.3350T>A (p.Leu1117Gln) c.3344T>A (p.Leu1115Gln) c.3299T>A (p.Leu1100Gln) c.3290T>A (p.Leu1097Gln) c.3266T>A (p.Leu1089Gln) c.3260T>A (p.Leu1087Gln) c.3233T>A (p.Leu1078Gln) c.3227T>A (p.Leu1076Gln) c.3221T>A (p.Leu1074Gln) c.3182T>A (p.Leu1061Gln) c.3170T>A (p.Leu1057Gln) c.3113T>A (p.Leu1038Gln) c.3089T>A (p.Leu1030Gln) c.3083T>A (p.Leu1028Gln) c.3065T>A (p.Leu1022Gln) c.3011T>A (p.Leu1004Gln) c.3118-285T>A (n.3118-285T>A) c.2318T>A (p.Leu773Gln) c.2231T>A (p.Leu744Gln) n.3507T>A | |
17 | g.39727404T>C | CA399310652 | ERBB2 | c.3269T>C (p.Leu1090Pro) c.3179T>C (p.Leu1060Pro) c.2441T>C (p.Leu814Pro) c.3224T>C (p.Leu1075Pro) c.*3059T>C (n.*3059T>C) c.3160-285T>C (n.3160-285T>C) n.3593T>C c.3407T>C (p.Leu1136Pro) c.3362T>C (p.Leu1121Pro) c.3317T>C (p.Leu1106Pro) c.3386T>C (p.Leu1129Pro) c.3371T>C (p.Leu1124Pro) c.3350T>C (p.Leu1117Pro) c.3344T>C (p.Leu1115Pro) c.3299T>C (p.Leu1100Pro) c.3290T>C (p.Leu1097Pro) c.3266T>C (p.Leu1089Pro) c.3260T>C (p.Leu1087Pro) c.3233T>C (p.Leu1078Pro) c.3227T>C (p.Leu1076Pro) c.3221T>C (p.Leu1074Pro) c.3182T>C (p.Leu1061Pro) c.3170T>C (p.Leu1057Pro) c.3113T>C (p.Leu1038Pro) c.3089T>C (p.Leu1030Pro) c.3083T>C (p.Leu1028Pro) c.3065T>C (p.Leu1022Pro) c.3011T>C (p.Leu1004Pro) c.3118-285T>C (n.3118-285T>C) c.2318T>C (p.Leu773Pro) c.2231T>C (p.Leu744Pro) n.3507T>C | dbSNP |
17 | g.39727404T>G | CA399310653 | ERBB2 | c.3269T>G (p.Leu1090Arg) c.3179T>G (p.Leu1060Arg) c.2441T>G (p.Leu814Arg) c.3224T>G (p.Leu1075Arg) c.*3059T>G (n.*3059T>G) c.3160-285T>G (n.3160-285T>G) n.3593T>G c.3407T>G (p.Leu1136Arg) c.3362T>G (p.Leu1121Arg) c.3317T>G (p.Leu1106Arg) c.3386T>G (p.Leu1129Arg) c.3371T>G (p.Leu1124Arg) c.3350T>G (p.Leu1117Arg) c.3344T>G (p.Leu1115Arg) c.3299T>G (p.Leu1100Arg) c.3290T>G (p.Leu1097Arg) c.3266T>G (p.Leu1089Arg) c.3260T>G (p.Leu1087Arg) c.3233T>G (p.Leu1078Arg) c.3227T>G (p.Leu1076Arg) c.3221T>G (p.Leu1074Arg) c.3182T>G (p.Leu1061Arg) c.3170T>G (p.Leu1057Arg) c.3113T>G (p.Leu1038Arg) c.3089T>G (p.Leu1030Arg) c.3083T>G (p.Leu1028Arg) c.3065T>G (p.Leu1022Arg) c.3011T>G (p.Leu1004Arg) c.3118-285T>G (n.3118-285T>G) c.2318T>G (p.Leu773Arg) c.2231T>G (p.Leu744Arg) n.3507T>G | dbSNP |
17 | g.39727404T= | CA2259228773 | ERBB2 | c.3269T= (p.Leu1090=) c.3179T= (p.Leu1060=) c.2441T= (p.Leu814=) c.3224T= (p.Leu1075=) c.*3059T= (n.*3059T=) c.3160-285T= (n.3160-285T=) n.3593T= c.3407T= (p.Leu1136=) c.3362T= (p.Leu1121=) c.3317T= (p.Leu1106=) c.3386T= (p.Leu1129=) c.3371T= (p.Leu1124=) c.3350T= (p.Leu1117=) c.3344T= (p.Leu1115=) c.3299T= (p.Leu1100=) c.3290T= (p.Leu1097=) c.3266T= (p.Leu1089=) c.3260T= (p.Leu1087=) c.3233T= (p.Leu1078=) c.3227T= (p.Leu1076=) c.3221T= (p.Leu1074=) c.3182T= (p.Leu1061=) c.3170T= (p.Leu1057=) c.3113T= (p.Leu1038=) c.3089T= (p.Leu1030=) c.3083T= (p.Leu1028=) c.3065T= (p.Leu1022=) c.3011T= (p.Leu1004=) c.3118-285T= (n.3118-285T=) c.2318T= (p.Leu773=) c.2231T= (p.Leu744=) n.3507T= | |
17 | g.39727405G>A | CA499671649 | ERBB2 | c.3270G>A (p.Leu1090=) c.3180G>A (p.Leu1060=) c.2442G>A (p.Leu814=) c.3225G>A (p.Leu1075=) c.*3060G>A (n.*3060G>A) c.3160-284G>A (n.3160-284G>A) n.3594G>A c.3408G>A (p.Leu1136=) c.3363G>A (p.Leu1121=) c.3318G>A (p.Leu1106=) c.3387G>A (p.Leu1129=) c.3372G>A (p.Leu1124=) c.3351G>A (p.Leu1117=) c.3345G>A (p.Leu1115=) c.3300G>A (p.Leu1100=) c.3291G>A (p.Leu1097=) c.3267G>A (p.Leu1089=) c.3261G>A (p.Leu1087=) c.3234G>A (p.Leu1078=) c.3228G>A (p.Leu1076=) c.3222G>A (p.Leu1074=) c.3183G>A (p.Leu1061=) c.3171G>A (p.Leu1057=) c.3114G>A (p.Leu1038=) c.3090G>A (p.Leu1030=) c.3084G>A (p.Leu1028=) c.3066G>A (p.Leu1022=) c.3012G>A (p.Leu1004=) c.3118-284G>A (n.3118-284G>A) c.2319G>A (p.Leu773=) c.2232G>A (p.Leu744=) n.3508G>A | dbSNP gnomAD v4 |
17 | g.39727405G>C | CA499671650 | ERBB2 | c.3270G>C (p.Leu1090=) c.3180G>C (p.Leu1060=) c.2442G>C (p.Leu814=) c.3225G>C (p.Leu1075=) c.*3060G>C (n.*3060G>C) c.3160-284G>C (n.3160-284G>C) n.3594G>C c.3408G>C (p.Leu1136=) c.3363G>C (p.Leu1121=) c.3318G>C (p.Leu1106=) c.3387G>C (p.Leu1129=) c.3372G>C (p.Leu1124=) c.3351G>C (p.Leu1117=) c.3345G>C (p.Leu1115=) c.3300G>C (p.Leu1100=) c.3291G>C (p.Leu1097=) c.3267G>C (p.Leu1089=) c.3261G>C (p.Leu1087=) c.3234G>C (p.Leu1078=) c.3228G>C (p.Leu1076=) c.3222G>C (p.Leu1074=) c.3183G>C (p.Leu1061=) c.3171G>C (p.Leu1057=) c.3114G>C (p.Leu1038=) c.3090G>C (p.Leu1030=) c.3084G>C (p.Leu1028=) c.3066G>C (p.Leu1022=) c.3012G>C (p.Leu1004=) c.3118-284G>C (n.3118-284G>C) c.2319G>C (p.Leu773=) c.2232G>C (p.Leu744=) n.3508G>C | dbSNP |
17 | g.39727405G= | CA2259228775 | ERBB2 | c.3270G= (p.Leu1090=) c.3180G= (p.Leu1060=) c.2442G= (p.Leu814=) c.3225G= (p.Leu1075=) c.*3060G= (n.*3060G=) c.3160-284G= (n.3160-284G=) n.3594G= c.3408G= (p.Leu1136=) c.3363G= (p.Leu1121=) c.3318G= (p.Leu1106=) c.3387G= (p.Leu1129=) c.3372G= (p.Leu1124=) c.3351G= (p.Leu1117=) c.3345G= (p.Leu1115=) c.3300G= (p.Leu1100=) c.3291G= (p.Leu1097=) c.3267G= (p.Leu1089=) c.3261G= (p.Leu1087=) c.3234G= (p.Leu1078=) c.3228G= (p.Leu1076=) c.3222G= (p.Leu1074=) c.3183G= (p.Leu1061=) c.3171G= (p.Leu1057=) c.3114G= (p.Leu1038=) c.3090G= (p.Leu1030=) c.3084G= (p.Leu1028=) c.3066G= (p.Leu1022=) c.3012G= (p.Leu1004=) c.3118-284G= (n.3118-284G=) c.2319G= (p.Leu773=) c.2232G= (p.Leu744=) n.3508G= | |
17 | g.39727405G>T | CA499671651 | ERBB2 | c.3270G>T (p.Leu1090=) c.3180G>T (p.Leu1060=) c.2442G>T (p.Leu814=) c.3225G>T (p.Leu1075=) c.*3060G>T (n.*3060G>T) c.3160-284G>T (n.3160-284G>T) n.3594G>T c.3408G>T (p.Leu1136=) c.3363G>T (p.Leu1121=) c.3318G>T (p.Leu1106=) c.3387G>T (p.Leu1129=) c.3372G>T (p.Leu1124=) c.3351G>T (p.Leu1117=) c.3345G>T (p.Leu1115=) c.3300G>T (p.Leu1100=) c.3291G>T (p.Leu1097=) c.3267G>T (p.Leu1089=) c.3261G>T (p.Leu1087=) c.3234G>T (p.Leu1078=) c.3228G>T (p.Leu1076=) c.3222G>T (p.Leu1074=) c.3183G>T (p.Leu1061=) c.3171G>T (p.Leu1057=) c.3114G>T (p.Leu1038=) c.3090G>T (p.Leu1030=) c.3084G>T (p.Leu1028=) c.3066G>T (p.Leu1022=) c.3012G>T (p.Leu1004=) c.3118-284G>T (n.3118-284G>T) c.2319G>T (p.Leu773=) c.2232G>T (p.Leu744=) n.3508G>T | dbSNP |
17 | g.39727406G>A | CA399310658 | ERBB2 | c.3271G>A (p.Gly1091Arg) c.3181G>A (p.Gly1061Arg) c.2443G>A (p.Gly815Arg) c.3226G>A (p.Gly1076Arg) c.*3061G>A (n.*3061G>A) c.3160-283G>A (n.3160-283G>A) n.3595G>A c.3409G>A (p.Gly1137Arg) c.3364G>A (p.Gly1122Arg) c.3319G>A (p.Gly1107Arg) c.3388G>A (p.Gly1130Arg) c.3373G>A (p.Gly1125Arg) c.3352G>A (p.Gly1118Arg) c.3346G>A (p.Gly1116Arg) c.3301G>A (p.Gly1101Arg) c.3292G>A (p.Gly1098Arg) c.3268G>A (p.Gly1090Arg) c.3262G>A (p.Gly1088Arg) c.3235G>A (p.Gly1079Arg) c.3229G>A (p.Gly1077Arg) c.3223G>A (p.Gly1075Arg) c.3184G>A (p.Gly1062Arg) c.3172G>A (p.Gly1058Arg) c.3115G>A (p.Gly1039Arg) c.3091G>A (p.Gly1031Arg) c.3085G>A (p.Gly1029Arg) c.3067G>A (p.Gly1023Arg) c.3013G>A (p.Gly1005Arg) c.3118-283G>A (n.3118-283G>A) c.2320G>A (p.Gly774Arg) c.2233G>A (p.Gly745Arg) n.3509G>A | dbSNP |
17 | g.39727406G>C | CA399310659 | ERBB2 | c.3271G>C (p.Gly1091Arg) c.3181G>C (p.Gly1061Arg) c.2443G>C (p.Gly815Arg) c.3226G>C (p.Gly1076Arg) c.*3061G>C (n.*3061G>C) c.3160-283G>C (n.3160-283G>C) n.3595G>C c.3409G>C (p.Gly1137Arg) c.3364G>C (p.Gly1122Arg) c.3319G>C (p.Gly1107Arg) c.3388G>C (p.Gly1130Arg) c.3373G>C (p.Gly1125Arg) c.3352G>C (p.Gly1118Arg) c.3346G>C (p.Gly1116Arg) c.3301G>C (p.Gly1101Arg) c.3292G>C (p.Gly1098Arg) c.3268G>C (p.Gly1090Arg) c.3262G>C (p.Gly1088Arg) c.3235G>C (p.Gly1079Arg) c.3229G>C (p.Gly1077Arg) c.3223G>C (p.Gly1075Arg) c.3184G>C (p.Gly1062Arg) c.3172G>C (p.Gly1058Arg) c.3115G>C (p.Gly1039Arg) c.3091G>C (p.Gly1031Arg) c.3085G>C (p.Gly1029Arg) c.3067G>C (p.Gly1023Arg) c.3013G>C (p.Gly1005Arg) c.3118-283G>C (n.3118-283G>C) c.2320G>C (p.Gly774Arg) c.2233G>C (p.Gly745Arg) n.3509G>C | dbSNP |
17 | g.39727406G>T | CA399310660 | ERBB2 | c.3271G>T (p.Gly1091Ter) c.3181G>T (p.Gly1061Ter) c.2443G>T (p.Gly815Ter) c.3226G>T (p.Gly1076Ter) c.*3061G>T (n.*3061G>T) c.3160-283G>T (n.3160-283G>T) n.3595G>T c.3409G>T (p.Gly1137Ter) c.3364G>T (p.Gly1122Ter) c.3319G>T (p.Gly1107Ter) c.3388G>T (p.Gly1130Ter) c.3373G>T (p.Gly1125Ter) c.3352G>T (p.Gly1118Ter) c.3346G>T (p.Gly1116Ter) c.3301G>T (p.Gly1101Ter) c.3292G>T (p.Gly1098Ter) c.3268G>T (p.Gly1090Ter) c.3262G>T (p.Gly1088Ter) c.3235G>T (p.Gly1079Ter) c.3229G>T (p.Gly1077Ter) c.3223G>T (p.Gly1075Ter) c.3184G>T (p.Gly1062Ter) c.3172G>T (p.Gly1058Ter) c.3115G>T (p.Gly1039Ter) c.3091G>T (p.Gly1031Ter) c.3085G>T (p.Gly1029Ter) c.3067G>T (p.Gly1023Ter) c.3013G>T (p.Gly1005Ter) c.3118-283G>T (n.3118-283G>T) c.2320G>T (p.Gly774Ter) c.2233G>T (p.Gly745Ter) n.3509G>T | dbSNP gnomAD v4 |
17 | g.39727407G>A | CA399310661 | ERBB2 | c.3272G>A (p.Gly1091Glu) c.3182G>A (p.Gly1061Glu) c.2444G>A (p.Gly815Glu) c.3227G>A (p.Gly1076Glu) c.*3062G>A (n.*3062G>A) c.3160-282G>A (n.3160-282G>A) n.3596G>A c.3410G>A (p.Gly1137Glu) c.3365G>A (p.Gly1122Glu) c.3320G>A (p.Gly1107Glu) c.3389G>A (p.Gly1130Glu) c.3374G>A (p.Gly1125Glu) c.3353G>A (p.Gly1118Glu) c.3347G>A (p.Gly1116Glu) c.3302G>A (p.Gly1101Glu) c.3293G>A (p.Gly1098Glu) c.3269G>A (p.Gly1090Glu) c.3263G>A (p.Gly1088Glu) c.3236G>A (p.Gly1079Glu) c.3230G>A (p.Gly1077Glu) c.3224G>A (p.Gly1075Glu) c.3185G>A (p.Gly1062Glu) c.3173G>A (p.Gly1058Glu) c.3116G>A (p.Gly1039Glu) c.3092G>A (p.Gly1031Glu) c.3086G>A (p.Gly1029Glu) c.3068G>A (p.Gly1023Glu) c.3014G>A (p.Gly1005Glu) c.3118-282G>A (n.3118-282G>A) c.2321G>A (p.Gly774Glu) c.2234G>A (p.Gly745Glu) n.3510G>A | dbSNP gnomAD v2 |
17 | g.39727407G>C | CA399310662 | ERBB2 | c.3272G>C (p.Gly1091Ala) c.3182G>C (p.Gly1061Ala) c.2444G>C (p.Gly815Ala) c.3227G>C (p.Gly1076Ala) c.*3062G>C (n.*3062G>C) c.3160-282G>C (n.3160-282G>C) n.3596G>C c.3410G>C (p.Gly1137Ala) c.3365G>C (p.Gly1122Ala) c.3320G>C (p.Gly1107Ala) c.3389G>C (p.Gly1130Ala) c.3374G>C (p.Gly1125Ala) c.3353G>C (p.Gly1118Ala) c.3347G>C (p.Gly1116Ala) c.3302G>C (p.Gly1101Ala) c.3293G>C (p.Gly1098Ala) c.3269G>C (p.Gly1090Ala) c.3263G>C (p.Gly1088Ala) c.3236G>C (p.Gly1079Ala) c.3230G>C (p.Gly1077Ala) c.3224G>C (p.Gly1075Ala) c.3185G>C (p.Gly1062Ala) c.3173G>C (p.Gly1058Ala) c.3116G>C (p.Gly1039Ala) c.3092G>C (p.Gly1031Ala) c.3086G>C (p.Gly1029Ala) c.3068G>C (p.Gly1023Ala) c.3014G>C (p.Gly1005Ala) c.3118-282G>C (n.3118-282G>C) c.2321G>C (p.Gly774Ala) c.2234G>C (p.Gly745Ala) n.3510G>C | dbSNP |
17 | g.39727407G= | CA2259228776 | ERBB2 | c.3272G= (p.Gly1091=) c.3182G= (p.Gly1061=) c.2444G= (p.Gly815=) c.3227G= (p.Gly1076=) c.*3062G= (n.*3062G=) c.3160-282G= (n.3160-282G=) n.3596G= c.3410G= (p.Gly1137=) c.3365G= (p.Gly1122=) c.3320G= (p.Gly1107=) c.3389G= (p.Gly1130=) c.3374G= (p.Gly1125=) c.3353G= (p.Gly1118=) c.3347G= (p.Gly1116=) c.3302G= (p.Gly1101=) c.3293G= (p.Gly1098=) c.3269G= (p.Gly1090=) c.3263G= (p.Gly1088=) c.3236G= (p.Gly1079=) c.3230G= (p.Gly1077=) c.3224G= (p.Gly1075=) c.3185G= (p.Gly1062=) c.3173G= (p.Gly1058=) c.3116G= (p.Gly1039=) c.3092G= (p.Gly1031=) c.3086G= (p.Gly1029=) c.3068G= (p.Gly1023=) c.3014G= (p.Gly1005=) c.3118-282G= (n.3118-282G=) c.2321G= (p.Gly774=) c.2234G= (p.Gly745=) n.3510G= | |
17 | g.39727407G>T | CA399310663 | ERBB2 | c.3272G>T (p.Gly1091Val) c.3182G>T (p.Gly1061Val) c.2444G>T (p.Gly815Val) c.3227G>T (p.Gly1076Val) c.*3062G>T (n.*3062G>T) c.3160-282G>T (n.3160-282G>T) n.3596G>T c.3410G>T (p.Gly1137Val) c.3365G>T (p.Gly1122Val) c.3320G>T (p.Gly1107Val) c.3389G>T (p.Gly1130Val) c.3374G>T (p.Gly1125Val) c.3353G>T (p.Gly1118Val) c.3347G>T (p.Gly1116Val) c.3302G>T (p.Gly1101Val) c.3293G>T (p.Gly1098Val) c.3269G>T (p.Gly1090Val) c.3263G>T (p.Gly1088Val) c.3236G>T (p.Gly1079Val) c.3230G>T (p.Gly1077Val) c.3224G>T (p.Gly1075Val) c.3185G>T (p.Gly1062Val) c.3173G>T (p.Gly1058Val) c.3116G>T (p.Gly1039Val) c.3092G>T (p.Gly1031Val) c.3086G>T (p.Gly1029Val) c.3068G>T (p.Gly1023Val) c.3014G>T (p.Gly1005Val) c.3118-282G>T (n.3118-282G>T) c.2321G>T (p.Gly774Val) c.2234G>T (p.Gly745Val) n.3510G>T | dbSNP |
17 | g.39727407_39727408delinsGA | CA2259228778 | ERBB2 | c.3272_3273delinsGA (p.Gly1091=) c.3182_3183delinsGA (p.Gly1061=) c.2444_2445delinsGA (p.Gly815=) c.3227_3228delinsGA (p.Gly1076=) c.*3062_*3063delinsGA (n.*3062_*3063delinsGA) c.3160-282_3160-281delinsGA (n.3160-282_3160-281delinsGA) n.3596_3597delinsGA c.3410_3411delinsGA (p.Gly1137=) c.3365_3366delinsGA (p.Gly1122=) c.3320_3321delinsGA (p.Gly1107=) c.3389_3390delinsGA (p.Gly1130=) c.3374_3375delinsGA (p.Gly1125=) c.3353_3354delinsGA (p.Gly1118=) c.3347_3348delinsGA (p.Gly1116=) c.3302_3303delinsGA (p.Gly1101=) c.3293_3294delinsGA (p.Gly1098=) c.3269_3270delinsGA (p.Gly1090=) c.3263_3264delinsGA (p.Gly1088=) c.3236_3237delinsGA (p.Gly1079=) c.3230_3231delinsGA (p.Gly1077=) c.3224_3225delinsGA (p.Gly1075=) c.3185_3186delinsGA (p.Gly1062=) c.3173_3174delinsGA (p.Gly1058=) c.3116_3117delinsGA (p.Gly1039=) c.3092_3093delinsGA (p.Gly1031=) c.3086_3087delinsGA (p.Gly1029=) c.3068_3069delinsGA (p.Gly1023=) c.3014_3015delinsGA (p.Gly1005=) c.3118-282_3118-281delinsGA (n.3118-282_3118-281delinsGA) c.2321_2322delinsGA (p.Gly774=) c.2234_2235delinsGA (p.Gly745=) n.3510_3511delinsGA | |
17 | g.39727408A= | CA2259228780 | ERBB2 | c.3273A= (p.Gly1091=) c.3183A= (p.Gly1061=) c.2445A= (p.Gly815=) c.3228A= (p.Gly1076=) c.*3063A= (n.*3063A=) c.3160-281A= (n.3160-281A=) n.3597A= c.3411A= (p.Gly1137=) c.3366A= (p.Gly1122=) c.3321A= (p.Gly1107=) c.3390A= (p.Gly1130=) c.3375A= (p.Gly1125=) c.3354A= (p.Gly1118=) c.3348A= (p.Gly1116=) c.3303A= (p.Gly1101=) c.3294A= (p.Gly1098=) c.3270A= (p.Gly1090=) c.3264A= (p.Gly1088=) c.3237A= (p.Gly1079=) c.3231A= (p.Gly1077=) c.3225A= (p.Gly1075=) c.3186A= (p.Gly1062=) c.3174A= (p.Gly1058=) c.3117A= (p.Gly1039=) c.3093A= (p.Gly1031=) c.3087A= (p.Gly1029=) c.3069A= (p.Gly1023=) c.3015A= (p.Gly1005=) c.3118-281A= (n.3118-281A=) c.2322A= (p.Gly774=) c.2235A= (p.Gly745=) n.3511A= | |
17 | g.39727408A>C | CA499671652 | ERBB2 | c.3273A>C (p.Gly1091=) c.3183A>C (p.Gly1061=) c.2445A>C (p.Gly815=) c.3228A>C (p.Gly1076=) c.*3063A>C (n.*3063A>C) c.3160-281A>C (n.3160-281A>C) n.3597A>C c.3411A>C (p.Gly1137=) c.3366A>C (p.Gly1122=) c.3321A>C (p.Gly1107=) c.3390A>C (p.Gly1130=) c.3375A>C (p.Gly1125=) c.3354A>C (p.Gly1118=) c.3348A>C (p.Gly1116=) c.3303A>C (p.Gly1101=) c.3294A>C (p.Gly1098=) c.3270A>C (p.Gly1090=) c.3264A>C (p.Gly1088=) c.3237A>C (p.Gly1079=) c.3231A>C (p.Gly1077=) c.3225A>C (p.Gly1075=) c.3186A>C (p.Gly1062=) c.3174A>C (p.Gly1058=) c.3117A>C (p.Gly1039=) c.3093A>C (p.Gly1031=) c.3087A>C (p.Gly1029=) c.3069A>C (p.Gly1023=) c.3015A>C (p.Gly1005=) c.3118-281A>C (n.3118-281A>C) c.2322A>C (p.Gly774=) c.2235A>C (p.Gly745=) n.3511A>C | gnomAD v4 |
17 | g.39727408A>G | CA499671653 | ERBB2 | c.3273A>G (p.Gly1091=) c.3183A>G (p.Gly1061=) c.2445A>G (p.Gly815=) c.3228A>G (p.Gly1076=) c.*3063A>G (n.*3063A>G) c.3160-281A>G (n.3160-281A>G) n.3597A>G c.3411A>G (p.Gly1137=) c.3366A>G (p.Gly1122=) c.3321A>G (p.Gly1107=) c.3390A>G (p.Gly1130=) c.3375A>G (p.Gly1125=) c.3354A>G (p.Gly1118=) c.3348A>G (p.Gly1116=) c.3303A>G (p.Gly1101=) c.3294A>G (p.Gly1098=) c.3270A>G (p.Gly1090=) c.3264A>G (p.Gly1088=) c.3237A>G (p.Gly1079=) c.3231A>G (p.Gly1077=) c.3225A>G (p.Gly1075=) c.3186A>G (p.Gly1062=) c.3174A>G (p.Gly1058=) c.3117A>G (p.Gly1039=) c.3093A>G (p.Gly1031=) c.3087A>G (p.Gly1029=) c.3069A>G (p.Gly1023=) c.3015A>G (p.Gly1005=) c.3118-281A>G (n.3118-281A>G) c.2322A>G (p.Gly774=) c.2235A>G (p.Gly745=) n.3511A>G | |
17 | g.39727408A>T | CA499671654 | ERBB2 | c.3273A>T (p.Gly1091=) c.3183A>T (p.Gly1061=) c.2445A>T (p.Gly815=) c.3228A>T (p.Gly1076=) c.*3063A>T (n.*3063A>T) c.3160-281A>T (n.3160-281A>T) n.3597A>T c.3411A>T (p.Gly1137=) c.3366A>T (p.Gly1122=) c.3321A>T (p.Gly1107=) c.3390A>T (p.Gly1130=) c.3375A>T (p.Gly1125=) c.3354A>T (p.Gly1118=) c.3348A>T (p.Gly1116=) c.3303A>T (p.Gly1101=) c.3294A>T (p.Gly1098=) c.3270A>T (p.Gly1090=) c.3264A>T (p.Gly1088=) c.3237A>T (p.Gly1079=) c.3231A>T (p.Gly1077=) c.3225A>T (p.Gly1075=) c.3186A>T (p.Gly1062=) c.3174A>T (p.Gly1058=) c.3117A>T (p.Gly1039=) c.3093A>T (p.Gly1031=) c.3087A>T (p.Gly1029=) c.3069A>T (p.Gly1023=) c.3015A>T (p.Gly1005=) c.3118-281A>T (n.3118-281A>T) c.2322A>T (p.Gly774=) c.2235A>T (p.Gly745=) n.3511A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727409del | CA626209663 | ERBB2 | c.3274del (p.Met1092TrpfsTer?) c.3184del (p.Met1062TrpfsTer?) c.2446del (p.Met816TrpfsTer?) c.3229del (p.Met1077TrpfsTer?) c.*3064del (n.*3064del) c.3160-280del (n.3160-280del) n.3598del c.3412del (p.Met1138TrpfsTer?) c.3367del (p.Met1123TrpfsTer?) c.3322del (p.Met1108TrpfsTer?) c.3391del (p.Met1131TrpfsTer?) c.3376del (p.Met1126TrpfsTer?) c.3355del (p.Met1119TrpfsTer?) c.3349del (p.Met1117TrpfsTer?) c.3304del (p.Met1102TrpfsTer?) c.3295del (p.Met1099TrpfsTer?) c.3271del (p.Met1091TrpfsTer?) c.3265del (p.Met1089TrpfsTer?) c.3238del (p.Met1080TrpfsTer?) c.3232del (p.Met1078TrpfsTer?) c.3226del (p.Met1076TrpfsTer?) c.3187del (p.Met1063TrpfsTer?) c.3175del (p.Met1059TrpfsTer?) c.3118del (p.Met1040TrpfsTer?) c.3094del (p.Met1032TrpfsTer?) c.3088del (p.Met1030TrpfsTer?) c.3070del (p.Met1024TrpfsTer?) c.3016del (p.Met1006TrpfsTer?) c.3118-280del (n.3118-280del) c.2323del (p.Met775TrpfsTer?) c.2236del (p.Met746TrpfsTer?) n.3512del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727409A>C | CA399310664 | ERBB2 | c.3274A>C (p.Met1092Leu) c.3184A>C (p.Met1062Leu) c.2446A>C (p.Met816Leu) c.3229A>C (p.Met1077Leu) c.*3064A>C (n.*3064A>C) c.3160-280A>C (n.3160-280A>C) n.3598A>C c.3412A>C (p.Met1138Leu) c.3367A>C (p.Met1123Leu) c.3322A>C (p.Met1108Leu) c.3391A>C (p.Met1131Leu) c.3376A>C (p.Met1126Leu) c.3355A>C (p.Met1119Leu) c.3349A>C (p.Met1117Leu) c.3304A>C (p.Met1102Leu) c.3295A>C (p.Met1099Leu) c.3271A>C (p.Met1091Leu) c.3265A>C (p.Met1089Leu) c.3238A>C (p.Met1080Leu) c.3232A>C (p.Met1078Leu) c.3226A>C (p.Met1076Leu) c.3187A>C (p.Met1063Leu) c.3175A>C (p.Met1059Leu) c.3118A>C (p.Met1040Leu) c.3094A>C (p.Met1032Leu) c.3088A>C (p.Met1030Leu) c.3070A>C (p.Met1024Leu) c.3016A>C (p.Met1006Leu) c.3118-280A>C (n.3118-280A>C) c.2323A>C (p.Met775Leu) c.2236A>C (p.Met746Leu) n.3512A>C | dbSNP |
17 | g.39727409A>G | CA399310665 | ERBB2 | c.3274A>G (p.Met1092Val) c.3184A>G (p.Met1062Val) c.2446A>G (p.Met816Val) c.3229A>G (p.Met1077Val) c.*3064A>G (n.*3064A>G) c.3160-280A>G (n.3160-280A>G) n.3598A>G c.3412A>G (p.Met1138Val) c.3367A>G (p.Met1123Val) c.3322A>G (p.Met1108Val) c.3391A>G (p.Met1131Val) c.3376A>G (p.Met1126Val) c.3355A>G (p.Met1119Val) c.3349A>G (p.Met1117Val) c.3304A>G (p.Met1102Val) c.3295A>G (p.Met1099Val) c.3271A>G (p.Met1091Val) c.3265A>G (p.Met1089Val) c.3238A>G (p.Met1080Val) c.3232A>G (p.Met1078Val) c.3226A>G (p.Met1076Val) c.3187A>G (p.Met1063Val) c.3175A>G (p.Met1059Val) c.3118A>G (p.Met1040Val) c.3094A>G (p.Met1032Val) c.3088A>G (p.Met1030Val) c.3070A>G (p.Met1024Val) c.3016A>G (p.Met1006Val) c.3118-280A>G (n.3118-280A>G) c.2323A>G (p.Met775Val) c.2236A>G (p.Met746Val) n.3512A>G | dbSNP |
17 | g.39727409A>T | CA399310666 | ERBB2 | c.3274A>T (p.Met1092Leu) c.3184A>T (p.Met1062Leu) c.2446A>T (p.Met816Leu) c.3229A>T (p.Met1077Leu) c.*3064A>T (n.*3064A>T) c.3160-280A>T (n.3160-280A>T) n.3598A>T c.3412A>T (p.Met1138Leu) c.3367A>T (p.Met1123Leu) c.3322A>T (p.Met1108Leu) c.3391A>T (p.Met1131Leu) c.3376A>T (p.Met1126Leu) c.3355A>T (p.Met1119Leu) c.3349A>T (p.Met1117Leu) c.3304A>T (p.Met1102Leu) c.3295A>T (p.Met1099Leu) c.3271A>T (p.Met1091Leu) c.3265A>T (p.Met1089Leu) c.3238A>T (p.Met1080Leu) c.3232A>T (p.Met1078Leu) c.3226A>T (p.Met1076Leu) c.3187A>T (p.Met1063Leu) c.3175A>T (p.Met1059Leu) c.3118A>T (p.Met1040Leu) c.3094A>T (p.Met1032Leu) c.3088A>T (p.Met1030Leu) c.3070A>T (p.Met1024Leu) c.3016A>T (p.Met1006Leu) c.3118-280A>T (n.3118-280A>T) c.2323A>T (p.Met775Leu) c.2236A>T (p.Met746Leu) n.3512A>T | dbSNP |
17 | g.39727410T>A | CA399310667 | ERBB2 | c.3275T>A (p.Met1092Lys) c.3185T>A (p.Met1062Lys) c.2447T>A (p.Met816Lys) c.3230T>A (p.Met1077Lys) c.*3065T>A (n.*3065T>A) c.3160-279T>A (n.3160-279T>A) n.3599T>A c.3413T>A (p.Met1138Lys) c.3368T>A (p.Met1123Lys) c.3323T>A (p.Met1108Lys) c.3392T>A (p.Met1131Lys) c.3377T>A (p.Met1126Lys) c.3356T>A (p.Met1119Lys) c.3350T>A (p.Met1117Lys) c.3305T>A (p.Met1102Lys) c.3296T>A (p.Met1099Lys) c.3272T>A (p.Met1091Lys) c.3266T>A (p.Met1089Lys) c.3239T>A (p.Met1080Lys) c.3233T>A (p.Met1078Lys) c.3227T>A (p.Met1076Lys) c.3188T>A (p.Met1063Lys) c.3176T>A (p.Met1059Lys) c.3119T>A (p.Met1040Lys) c.3095T>A (p.Met1032Lys) c.3089T>A (p.Met1030Lys) c.3071T>A (p.Met1024Lys) c.3017T>A (p.Met1006Lys) c.3118-279T>A (n.3118-279T>A) c.2324T>A (p.Met775Lys) c.2237T>A (p.Met746Lys) n.3513T>A | |
17 | g.39727410T>C | CA399310668 | ERBB2 | c.3275T>C (p.Met1092Thr) c.3185T>C (p.Met1062Thr) c.2447T>C (p.Met816Thr) c.3230T>C (p.Met1077Thr) c.*3065T>C (n.*3065T>C) c.3160-279T>C (n.3160-279T>C) n.3599T>C c.3413T>C (p.Met1138Thr) c.3368T>C (p.Met1123Thr) c.3323T>C (p.Met1108Thr) c.3392T>C (p.Met1131Thr) c.3377T>C (p.Met1126Thr) c.3356T>C (p.Met1119Thr) c.3350T>C (p.Met1117Thr) c.3305T>C (p.Met1102Thr) c.3296T>C (p.Met1099Thr) c.3272T>C (p.Met1091Thr) c.3266T>C (p.Met1089Thr) c.3239T>C (p.Met1080Thr) c.3233T>C (p.Met1078Thr) c.3227T>C (p.Met1076Thr) c.3188T>C (p.Met1063Thr) c.3176T>C (p.Met1059Thr) c.3119T>C (p.Met1040Thr) c.3095T>C (p.Met1032Thr) c.3089T>C (p.Met1030Thr) c.3071T>C (p.Met1024Thr) c.3017T>C (p.Met1006Thr) c.3118-279T>C (n.3118-279T>C) c.2324T>C (p.Met775Thr) c.2237T>C (p.Met746Thr) n.3513T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727410T>G | CA399310669 | ERBB2 | c.3275T>G (p.Met1092Arg) c.3185T>G (p.Met1062Arg) c.2447T>G (p.Met816Arg) c.3230T>G (p.Met1077Arg) c.*3065T>G (n.*3065T>G) c.3160-279T>G (n.3160-279T>G) n.3599T>G c.3413T>G (p.Met1138Arg) c.3368T>G (p.Met1123Arg) c.3323T>G (p.Met1108Arg) c.3392T>G (p.Met1131Arg) c.3377T>G (p.Met1126Arg) c.3356T>G (p.Met1119Arg) c.3350T>G (p.Met1117Arg) c.3305T>G (p.Met1102Arg) c.3296T>G (p.Met1099Arg) c.3272T>G (p.Met1091Arg) c.3266T>G (p.Met1089Arg) c.3239T>G (p.Met1080Arg) c.3233T>G (p.Met1078Arg) c.3227T>G (p.Met1076Arg) c.3188T>G (p.Met1063Arg) c.3176T>G (p.Met1059Arg) c.3119T>G (p.Met1040Arg) c.3095T>G (p.Met1032Arg) c.3089T>G (p.Met1030Arg) c.3071T>G (p.Met1024Arg) c.3017T>G (p.Met1006Arg) c.3118-279T>G (n.3118-279T>G) c.2324T>G (p.Met775Arg) c.2237T>G (p.Met746Arg) n.3513T>G | dbSNP |
17 | g.39727410T= | CA2259228782 | ERBB2 | c.3275T= (p.Met1092=) c.3185T= (p.Met1062=) c.2447T= (p.Met816=) c.3230T= (p.Met1077=) c.*3065T= (n.*3065T=) c.3160-279T= (n.3160-279T=) n.3599T= c.3413T= (p.Met1138=) c.3368T= (p.Met1123=) c.3323T= (p.Met1108=) c.3392T= (p.Met1131=) c.3377T= (p.Met1126=) c.3356T= (p.Met1119=) c.3350T= (p.Met1117=) c.3305T= (p.Met1102=) c.3296T= (p.Met1099=) c.3272T= (p.Met1091=) c.3266T= (p.Met1089=) c.3239T= (p.Met1080=) c.3233T= (p.Met1078=) c.3227T= (p.Met1076=) c.3188T= (p.Met1063=) c.3176T= (p.Met1059=) c.3119T= (p.Met1040=) c.3095T= (p.Met1032=) c.3089T= (p.Met1030=) c.3071T= (p.Met1024=) c.3017T= (p.Met1006=) c.3118-279T= (n.3118-279T=) c.2324T= (p.Met775=) c.2237T= (p.Met746=) n.3513T= | |
17 | g.39727411G>A | CA8534515 | ERBB2 | c.3276G>A (p.Met1092Ile) c.3186G>A (p.Met1062Ile) c.2448G>A (p.Met816Ile) c.3231G>A (p.Met1077Ile) c.*3066G>A (n.*3066G>A) c.3160-278G>A (n.3160-278G>A) n.3600G>A c.3414G>A (p.Met1138Ile) c.3369G>A (p.Met1123Ile) c.3324G>A (p.Met1108Ile) c.3393G>A (p.Met1131Ile) c.3378G>A (p.Met1126Ile) c.3357G>A (p.Met1119Ile) c.3351G>A (p.Met1117Ile) c.3306G>A (p.Met1102Ile) c.3297G>A (p.Met1099Ile) c.3273G>A (p.Met1091Ile) c.3267G>A (p.Met1089Ile) c.3240G>A (p.Met1080Ile) c.3234G>A (p.Met1078Ile) c.3228G>A (p.Met1076Ile) c.3189G>A (p.Met1063Ile) c.3177G>A (p.Met1059Ile) c.3120G>A (p.Met1040Ile) c.3096G>A (p.Met1032Ile) c.3090G>A (p.Met1030Ile) c.3072G>A (p.Met1024Ile) c.3018G>A (p.Met1006Ile) c.3118-278G>A (n.3118-278G>A) c.2325G>A (p.Met775Ile) c.2238G>A (p.Met746Ile) n.3514G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727411G>C | CA399310671 | ERBB2 | c.3276G>C (p.Met1092Ile) c.3186G>C (p.Met1062Ile) c.2448G>C (p.Met816Ile) c.3231G>C (p.Met1077Ile) c.*3066G>C (n.*3066G>C) c.3160-278G>C (n.3160-278G>C) n.3600G>C c.3414G>C (p.Met1138Ile) c.3369G>C (p.Met1123Ile) c.3324G>C (p.Met1108Ile) c.3393G>C (p.Met1131Ile) c.3378G>C (p.Met1126Ile) c.3357G>C (p.Met1119Ile) c.3351G>C (p.Met1117Ile) c.3306G>C (p.Met1102Ile) c.3297G>C (p.Met1099Ile) c.3273G>C (p.Met1091Ile) c.3267G>C (p.Met1089Ile) c.3240G>C (p.Met1080Ile) c.3234G>C (p.Met1078Ile) c.3228G>C (p.Met1076Ile) c.3189G>C (p.Met1063Ile) c.3177G>C (p.Met1059Ile) c.3120G>C (p.Met1040Ile) c.3096G>C (p.Met1032Ile) c.3090G>C (p.Met1030Ile) c.3072G>C (p.Met1024Ile) c.3018G>C (p.Met1006Ile) c.3118-278G>C (n.3118-278G>C) c.2325G>C (p.Met775Ile) c.2238G>C (p.Met746Ile) n.3514G>C | |
17 | g.39727411G= | CA2259228784 | ERBB2 | c.3276G= (p.Met1092=) c.3186G= (p.Met1062=) c.2448G= (p.Met816=) c.3231G= (p.Met1077=) c.*3066G= (n.*3066G=) c.3160-278G= (n.3160-278G=) n.3600G= c.3414G= (p.Met1138=) c.3369G= (p.Met1123=) c.3324G= (p.Met1108=) c.3393G= (p.Met1131=) c.3378G= (p.Met1126=) c.3357G= (p.Met1119=) c.3351G= (p.Met1117=) c.3306G= (p.Met1102=) c.3297G= (p.Met1099=) c.3273G= (p.Met1091=) c.3267G= (p.Met1089=) c.3240G= (p.Met1080=) c.3234G= (p.Met1078=) c.3228G= (p.Met1076=) c.3189G= (p.Met1063=) c.3177G= (p.Met1059=) c.3120G= (p.Met1040=) c.3096G= (p.Met1032=) c.3090G= (p.Met1030=) c.3072G= (p.Met1024=) c.3018G= (p.Met1006=) c.3118-278G= (n.3118-278G=) c.2325G= (p.Met775=) c.2238G= (p.Met746=) n.3514G= | |
17 | g.39727411G>T | CA399310670 | ERBB2 | c.3276G>T (p.Met1092Ile) c.3186G>T (p.Met1062Ile) c.2448G>T (p.Met816Ile) c.3231G>T (p.Met1077Ile) c.*3066G>T (n.*3066G>T) c.3160-278G>T (n.3160-278G>T) n.3600G>T c.3414G>T (p.Met1138Ile) c.3369G>T (p.Met1123Ile) c.3324G>T (p.Met1108Ile) c.3393G>T (p.Met1131Ile) c.3378G>T (p.Met1126Ile) c.3357G>T (p.Met1119Ile) c.3351G>T (p.Met1117Ile) c.3306G>T (p.Met1102Ile) c.3297G>T (p.Met1099Ile) c.3273G>T (p.Met1091Ile) c.3267G>T (p.Met1089Ile) c.3240G>T (p.Met1080Ile) c.3234G>T (p.Met1078Ile) c.3228G>T (p.Met1076Ile) c.3189G>T (p.Met1063Ile) c.3177G>T (p.Met1059Ile) c.3120G>T (p.Met1040Ile) c.3096G>T (p.Met1032Ile) c.3090G>T (p.Met1030Ile) c.3072G>T (p.Met1024Ile) c.3018G>T (p.Met1006Ile) c.3118-278G>T (n.3118-278G>T) c.2325G>T (p.Met775Ile) c.2238G>T (p.Met746Ile) n.3514G>T | |
17 | g.39727415del | CA2637628543 | ERBB2 | c.3280del (p.Ala1094GlnfsTer?) c.3190del (p.Ala1064GlnfsTer?) c.2452del (p.Ala818GlnfsTer?) c.3235del (p.Ala1079GlnfsTer?) c.*3070del (n.*3070del) c.3160-274del (n.3160-274del) n.3604del c.3418del (p.Ala1140GlnfsTer?) c.3373del (p.Ala1125GlnfsTer?) c.3328del (p.Ala1110GlnfsTer?) c.3397del (p.Ala1133GlnfsTer?) c.3382del (p.Ala1128GlnfsTer?) c.3361del (p.Ala1121GlnfsTer?) c.3355del (p.Ala1119GlnfsTer?) c.3310del (p.Ala1104GlnfsTer?) c.3301del (p.Ala1101GlnfsTer?) c.3277del (p.Ala1093GlnfsTer?) c.3271del (p.Ala1091GlnfsTer?) c.3244del (p.Ala1082GlnfsTer?) c.3238del (p.Ala1080GlnfsTer?) c.3232del (p.Ala1078GlnfsTer?) c.3193del (p.Ala1065GlnfsTer?) c.3181del (p.Ala1061GlnfsTer?) c.3124del (p.Ala1042GlnfsTer?) c.3100del (p.Ala1034GlnfsTer?) c.3094del (p.Ala1032GlnfsTer?) c.3076del (p.Ala1026GlnfsTer?) c.3022del (p.Ala1008GlnfsTer?) c.3118-274del (n.3118-274del) c.2329del (p.Ala777GlnfsTer?) c.2242del (p.Ala748GlnfsTer?) n.3518del | gnomAD v4 |
17 | g.39727412G>A | CA399310672 | ERBB2 | c.3277G>A (p.Gly1093Arg) c.3187G>A (p.Gly1063Arg) c.2449G>A (p.Gly817Arg) c.3232G>A (p.Gly1078Arg) c.*3067G>A (n.*3067G>A) c.3160-277G>A (n.3160-277G>A) n.3601G>A c.3415G>A (p.Gly1139Arg) c.3370G>A (p.Gly1124Arg) c.3325G>A (p.Gly1109Arg) c.3394G>A (p.Gly1132Arg) c.3379G>A (p.Gly1127Arg) c.3358G>A (p.Gly1120Arg) c.3352G>A (p.Gly1118Arg) c.3307G>A (p.Gly1103Arg) c.3298G>A (p.Gly1100Arg) c.3274G>A (p.Gly1092Arg) c.3268G>A (p.Gly1090Arg) c.3241G>A (p.Gly1081Arg) c.3235G>A (p.Gly1079Arg) c.3229G>A (p.Gly1077Arg) c.3190G>A (p.Gly1064Arg) c.3178G>A (p.Gly1060Arg) c.3121G>A (p.Gly1041Arg) c.3097G>A (p.Gly1033Arg) c.3091G>A (p.Gly1031Arg) c.3073G>A (p.Gly1025Arg) c.3019G>A (p.Gly1007Arg) c.3118-277G>A (n.3118-277G>A) c.2326G>A (p.Gly776Arg) c.2239G>A (p.Gly747Arg) n.3515G>A | dbSNP |
17 | g.39727412G>C | CA399310673 | ERBB2 | c.3277G>C (p.Gly1093Arg) c.3187G>C (p.Gly1063Arg) c.2449G>C (p.Gly817Arg) c.3232G>C (p.Gly1078Arg) c.*3067G>C (n.*3067G>C) c.3160-277G>C (n.3160-277G>C) n.3601G>C c.3415G>C (p.Gly1139Arg) c.3370G>C (p.Gly1124Arg) c.3325G>C (p.Gly1109Arg) c.3394G>C (p.Gly1132Arg) c.3379G>C (p.Gly1127Arg) c.3358G>C (p.Gly1120Arg) c.3352G>C (p.Gly1118Arg) c.3307G>C (p.Gly1103Arg) c.3298G>C (p.Gly1100Arg) c.3274G>C (p.Gly1092Arg) c.3268G>C (p.Gly1090Arg) c.3241G>C (p.Gly1081Arg) c.3235G>C (p.Gly1079Arg) c.3229G>C (p.Gly1077Arg) c.3190G>C (p.Gly1064Arg) c.3178G>C (p.Gly1060Arg) c.3121G>C (p.Gly1041Arg) c.3097G>C (p.Gly1033Arg) c.3091G>C (p.Gly1031Arg) c.3073G>C (p.Gly1025Arg) c.3019G>C (p.Gly1007Arg) c.3118-277G>C (n.3118-277G>C) c.2326G>C (p.Gly776Arg) c.2239G>C (p.Gly747Arg) n.3515G>C | dbSNP |
17 | g.39727412G>T | CA399310674 | ERBB2 | c.3277G>T (p.Gly1093Trp) c.3187G>T (p.Gly1063Trp) c.2449G>T (p.Gly817Trp) c.3232G>T (p.Gly1078Trp) c.*3067G>T (n.*3067G>T) c.3160-277G>T (n.3160-277G>T) n.3601G>T c.3415G>T (p.Gly1139Trp) c.3370G>T (p.Gly1124Trp) c.3325G>T (p.Gly1109Trp) c.3394G>T (p.Gly1132Trp) c.3379G>T (p.Gly1127Trp) c.3358G>T (p.Gly1120Trp) c.3352G>T (p.Gly1118Trp) c.3307G>T (p.Gly1103Trp) c.3298G>T (p.Gly1100Trp) c.3274G>T (p.Gly1092Trp) c.3268G>T (p.Gly1090Trp) c.3241G>T (p.Gly1081Trp) c.3235G>T (p.Gly1079Trp) c.3229G>T (p.Gly1077Trp) c.3190G>T (p.Gly1064Trp) c.3178G>T (p.Gly1060Trp) c.3121G>T (p.Gly1041Trp) c.3097G>T (p.Gly1033Trp) c.3091G>T (p.Gly1031Trp) c.3073G>T (p.Gly1025Trp) c.3019G>T (p.Gly1007Trp) c.3118-277G>T (n.3118-277G>T) c.2326G>T (p.Gly776Trp) c.2239G>T (p.Gly747Trp) n.3515G>T | dbSNP |
17 | g.39727413G>A | CA8534516 | ERBB2 | c.3278G>A (p.Gly1093Glu) c.3188G>A (p.Gly1063Glu) c.2450G>A (p.Gly817Glu) c.3233G>A (p.Gly1078Glu) c.*3068G>A (n.*3068G>A) c.3160-276G>A (n.3160-276G>A) n.3602G>A c.3416G>A (p.Gly1139Glu) c.3371G>A (p.Gly1124Glu) c.3326G>A (p.Gly1109Glu) c.3395G>A (p.Gly1132Glu) c.3380G>A (p.Gly1127Glu) c.3359G>A (p.Gly1120Glu) c.3353G>A (p.Gly1118Glu) c.3308G>A (p.Gly1103Glu) c.3299G>A (p.Gly1100Glu) c.3275G>A (p.Gly1092Glu) c.3269G>A (p.Gly1090Glu) c.3242G>A (p.Gly1081Glu) c.3236G>A (p.Gly1079Glu) c.3230G>A (p.Gly1077Glu) c.3191G>A (p.Gly1064Glu) c.3179G>A (p.Gly1060Glu) c.3122G>A (p.Gly1041Glu) c.3098G>A (p.Gly1033Glu) c.3092G>A (p.Gly1031Glu) c.3074G>A (p.Gly1025Glu) c.3020G>A (p.Gly1007Glu) c.3118-276G>A (n.3118-276G>A) c.2327G>A (p.Gly776Glu) c.2240G>A (p.Gly747Glu) n.3516G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727413G>C | CA399310675 | ERBB2 | c.3278G>C (p.Gly1093Ala) c.3188G>C (p.Gly1063Ala) c.2450G>C (p.Gly817Ala) c.3233G>C (p.Gly1078Ala) c.*3068G>C (n.*3068G>C) c.3160-276G>C (n.3160-276G>C) n.3602G>C c.3416G>C (p.Gly1139Ala) c.3371G>C (p.Gly1124Ala) c.3326G>C (p.Gly1109Ala) c.3395G>C (p.Gly1132Ala) c.3380G>C (p.Gly1127Ala) c.3359G>C (p.Gly1120Ala) c.3353G>C (p.Gly1118Ala) c.3308G>C (p.Gly1103Ala) c.3299G>C (p.Gly1100Ala) c.3275G>C (p.Gly1092Ala) c.3269G>C (p.Gly1090Ala) c.3242G>C (p.Gly1081Ala) c.3236G>C (p.Gly1079Ala) c.3230G>C (p.Gly1077Ala) c.3191G>C (p.Gly1064Ala) c.3179G>C (p.Gly1060Ala) c.3122G>C (p.Gly1041Ala) c.3098G>C (p.Gly1033Ala) c.3092G>C (p.Gly1031Ala) c.3074G>C (p.Gly1025Ala) c.3020G>C (p.Gly1007Ala) c.3118-276G>C (n.3118-276G>C) c.2327G>C (p.Gly776Ala) c.2240G>C (p.Gly747Ala) n.3516G>C | |
17 | g.39727413G= | CA2259228787 | ERBB2 | c.3278G= (p.Gly1093=) c.3188G= (p.Gly1063=) c.2450G= (p.Gly817=) c.3233G= (p.Gly1078=) c.*3068G= (n.*3068G=) c.3160-276G= (n.3160-276G=) n.3602G= c.3416G= (p.Gly1139=) c.3371G= (p.Gly1124=) c.3326G= (p.Gly1109=) c.3395G= (p.Gly1132=) c.3380G= (p.Gly1127=) c.3359G= (p.Gly1120=) c.3353G= (p.Gly1118=) c.3308G= (p.Gly1103=) c.3299G= (p.Gly1100=) c.3275G= (p.Gly1092=) c.3269G= (p.Gly1090=) c.3242G= (p.Gly1081=) c.3236G= (p.Gly1079=) c.3230G= (p.Gly1077=) c.3191G= (p.Gly1064=) c.3179G= (p.Gly1060=) c.3122G= (p.Gly1041=) c.3098G= (p.Gly1033=) c.3092G= (p.Gly1031=) c.3074G= (p.Gly1025=) c.3020G= (p.Gly1007=) c.3118-276G= (n.3118-276G=) c.2327G= (p.Gly776=) c.2240G= (p.Gly747=) n.3516G= | |
17 | g.39727413G>T | CA399310676 | ERBB2 | c.3278G>T (p.Gly1093Val) c.3188G>T (p.Gly1063Val) c.2450G>T (p.Gly817Val) c.3233G>T (p.Gly1078Val) c.*3068G>T (n.*3068G>T) c.3160-276G>T (n.3160-276G>T) n.3602G>T c.3416G>T (p.Gly1139Val) c.3371G>T (p.Gly1124Val) c.3326G>T (p.Gly1109Val) c.3395G>T (p.Gly1132Val) c.3380G>T (p.Gly1127Val) c.3359G>T (p.Gly1120Val) c.3353G>T (p.Gly1118Val) c.3308G>T (p.Gly1103Val) c.3299G>T (p.Gly1100Val) c.3275G>T (p.Gly1092Val) c.3269G>T (p.Gly1090Val) c.3242G>T (p.Gly1081Val) c.3236G>T (p.Gly1079Val) c.3230G>T (p.Gly1077Val) c.3191G>T (p.Gly1064Val) c.3179G>T (p.Gly1060Val) c.3122G>T (p.Gly1041Val) c.3098G>T (p.Gly1033Val) c.3092G>T (p.Gly1031Val) c.3074G>T (p.Gly1025Val) c.3020G>T (p.Gly1007Val) c.3118-276G>T (n.3118-276G>T) c.2327G>T (p.Gly776Val) c.2240G>T (p.Gly747Val) n.3516G>T | dbSNP |
17 | g.39727414G>A | CA499671655 | ERBB2 | c.3279G>A (p.Gly1093=) c.3189G>A (p.Gly1063=) c.2451G>A (p.Gly817=) c.3234G>A (p.Gly1078=) c.*3069G>A (n.*3069G>A) c.3160-275G>A (n.3160-275G>A) n.3603G>A c.3417G>A (p.Gly1139=) c.3372G>A (p.Gly1124=) c.3327G>A (p.Gly1109=) c.3396G>A (p.Gly1132=) c.3381G>A (p.Gly1127=) c.3360G>A (p.Gly1120=) c.3354G>A (p.Gly1118=) c.3309G>A (p.Gly1103=) c.3300G>A (p.Gly1100=) c.3276G>A (p.Gly1092=) c.3270G>A (p.Gly1090=) c.3243G>A (p.Gly1081=) c.3237G>A (p.Gly1079=) c.3231G>A (p.Gly1077=) c.3192G>A (p.Gly1064=) c.3180G>A (p.Gly1060=) c.3123G>A (p.Gly1041=) c.3099G>A (p.Gly1033=) c.3093G>A (p.Gly1031=) c.3075G>A (p.Gly1025=) c.3021G>A (p.Gly1007=) c.3118-275G>A (n.3118-275G>A) c.2328G>A (p.Gly776=) c.2241G>A (p.Gly747=) n.3517G>A | dbSNP gnomAD v4 |
17 | g.39727414G>C | CA499671657 | ERBB2 | c.3279G>C (p.Gly1093=) c.3189G>C (p.Gly1063=) c.2451G>C (p.Gly817=) c.3234G>C (p.Gly1078=) c.*3069G>C (n.*3069G>C) c.3160-275G>C (n.3160-275G>C) n.3603G>C c.3417G>C (p.Gly1139=) c.3372G>C (p.Gly1124=) c.3327G>C (p.Gly1109=) c.3396G>C (p.Gly1132=) c.3381G>C (p.Gly1127=) c.3360G>C (p.Gly1120=) c.3354G>C (p.Gly1118=) c.3309G>C (p.Gly1103=) c.3300G>C (p.Gly1100=) c.3276G>C (p.Gly1092=) c.3270G>C (p.Gly1090=) c.3243G>C (p.Gly1081=) c.3237G>C (p.Gly1079=) c.3231G>C (p.Gly1077=) c.3192G>C (p.Gly1064=) c.3180G>C (p.Gly1060=) c.3123G>C (p.Gly1041=) c.3099G>C (p.Gly1033=) c.3093G>C (p.Gly1031=) c.3075G>C (p.Gly1025=) c.3021G>C (p.Gly1007=) c.3118-275G>C (n.3118-275G>C) c.2328G>C (p.Gly776=) c.2241G>C (p.Gly747=) n.3517G>C | dbSNP |
17 | g.39727414G>T | CA499671656 | ERBB2 | c.3279G>T (p.Gly1093=) c.3189G>T (p.Gly1063=) c.2451G>T (p.Gly817=) c.3234G>T (p.Gly1078=) c.*3069G>T (n.*3069G>T) c.3160-275G>T (n.3160-275G>T) n.3603G>T c.3417G>T (p.Gly1139=) c.3372G>T (p.Gly1124=) c.3327G>T (p.Gly1109=) c.3396G>T (p.Gly1132=) c.3381G>T (p.Gly1127=) c.3360G>T (p.Gly1120=) c.3354G>T (p.Gly1118=) c.3309G>T (p.Gly1103=) c.3300G>T (p.Gly1100=) c.3276G>T (p.Gly1092=) c.3270G>T (p.Gly1090=) c.3243G>T (p.Gly1081=) c.3237G>T (p.Gly1079=) c.3231G>T (p.Gly1077=) c.3192G>T (p.Gly1064=) c.3180G>T (p.Gly1060=) c.3123G>T (p.Gly1041=) c.3099G>T (p.Gly1033=) c.3093G>T (p.Gly1031=) c.3075G>T (p.Gly1025=) c.3021G>T (p.Gly1007=) c.3118-275G>T (n.3118-275G>T) c.2328G>T (p.Gly776=) c.2241G>T (p.Gly747=) n.3517G>T | dbSNP |
17 | g.39727415G>A | CA399310677 | ERBB2 | c.3280G>A (p.Ala1094Thr) c.3190G>A (p.Ala1064Thr) c.2452G>A (p.Ala818Thr) c.3235G>A (p.Ala1079Thr) c.*3070G>A (n.*3070G>A) c.3160-274G>A (n.3160-274G>A) n.3604G>A c.3418G>A (p.Ala1140Thr) c.3373G>A (p.Ala1125Thr) c.3328G>A (p.Ala1110Thr) c.3397G>A (p.Ala1133Thr) c.3382G>A (p.Ala1128Thr) c.3361G>A (p.Ala1121Thr) c.3355G>A (p.Ala1119Thr) c.3310G>A (p.Ala1104Thr) c.3301G>A (p.Ala1101Thr) c.3277G>A (p.Ala1093Thr) c.3271G>A (p.Ala1091Thr) c.3244G>A (p.Ala1082Thr) c.3238G>A (p.Ala1080Thr) c.3232G>A (p.Ala1078Thr) c.3193G>A (p.Ala1065Thr) c.3181G>A (p.Ala1061Thr) c.3124G>A (p.Ala1042Thr) c.3100G>A (p.Ala1034Thr) c.3094G>A (p.Ala1032Thr) c.3076G>A (p.Ala1026Thr) c.3022G>A (p.Ala1008Thr) c.3118-274G>A (n.3118-274G>A) c.2329G>A (p.Ala777Thr) c.2242G>A (p.Ala748Thr) n.3518G>A | dbSNP gnomAD v4 |
17 | g.39727415G>C | CA399310680 | ERBB2 | c.3280G>C (p.Ala1094Pro) c.3190G>C (p.Ala1064Pro) c.2452G>C (p.Ala818Pro) c.3235G>C (p.Ala1079Pro) c.*3070G>C (n.*3070G>C) c.3160-274G>C (n.3160-274G>C) n.3604G>C c.3418G>C (p.Ala1140Pro) c.3373G>C (p.Ala1125Pro) c.3328G>C (p.Ala1110Pro) c.3397G>C (p.Ala1133Pro) c.3382G>C (p.Ala1128Pro) c.3361G>C (p.Ala1121Pro) c.3355G>C (p.Ala1119Pro) c.3310G>C (p.Ala1104Pro) c.3301G>C (p.Ala1101Pro) c.3277G>C (p.Ala1093Pro) c.3271G>C (p.Ala1091Pro) c.3244G>C (p.Ala1082Pro) c.3238G>C (p.Ala1080Pro) c.3232G>C (p.Ala1078Pro) c.3193G>C (p.Ala1065Pro) c.3181G>C (p.Ala1061Pro) c.3124G>C (p.Ala1042Pro) c.3100G>C (p.Ala1034Pro) c.3094G>C (p.Ala1032Pro) c.3076G>C (p.Ala1026Pro) c.3022G>C (p.Ala1008Pro) c.3118-274G>C (n.3118-274G>C) c.2329G>C (p.Ala777Pro) c.2242G>C (p.Ala748Pro) n.3518G>C | dbSNP |
17 | g.39727415G= | CA2259228789 | ERBB2 | c.3280G= (p.Ala1094=) c.3190G= (p.Ala1064=) c.2452G= (p.Ala818=) c.3235G= (p.Ala1079=) c.*3070G= (n.*3070G=) c.3160-274G= (n.3160-274G=) n.3604G= c.3418G= (p.Ala1140=) c.3373G= (p.Ala1125=) c.3328G= (p.Ala1110=) c.3397G= (p.Ala1133=) c.3382G= (p.Ala1128=) c.3361G= (p.Ala1121=) c.3355G= (p.Ala1119=) c.3310G= (p.Ala1104=) c.3301G= (p.Ala1101=) c.3277G= (p.Ala1093=) c.3271G= (p.Ala1091=) c.3244G= (p.Ala1082=) c.3238G= (p.Ala1080=) c.3232G= (p.Ala1078=) c.3193G= (p.Ala1065=) c.3181G= (p.Ala1061=) c.3124G= (p.Ala1042=) c.3100G= (p.Ala1034=) c.3094G= (p.Ala1032=) c.3076G= (p.Ala1026=) c.3022G= (p.Ala1008=) c.3118-274G= (n.3118-274G=) c.2329G= (p.Ala777=) c.2242G= (p.Ala748=) n.3518G= | |
17 | g.39727415G>T | CA399310682 | ERBB2 | c.3280G>T (p.Ala1094Ser) c.3190G>T (p.Ala1064Ser) c.2452G>T (p.Ala818Ser) c.3235G>T (p.Ala1079Ser) c.*3070G>T (n.*3070G>T) c.3160-274G>T (n.3160-274G>T) n.3604G>T c.3418G>T (p.Ala1140Ser) c.3373G>T (p.Ala1125Ser) c.3328G>T (p.Ala1110Ser) c.3397G>T (p.Ala1133Ser) c.3382G>T (p.Ala1128Ser) c.3361G>T (p.Ala1121Ser) c.3355G>T (p.Ala1119Ser) c.3310G>T (p.Ala1104Ser) c.3301G>T (p.Ala1101Ser) c.3277G>T (p.Ala1093Ser) c.3271G>T (p.Ala1091Ser) c.3244G>T (p.Ala1082Ser) c.3238G>T (p.Ala1080Ser) c.3232G>T (p.Ala1078Ser) c.3193G>T (p.Ala1065Ser) c.3181G>T (p.Ala1061Ser) c.3124G>T (p.Ala1042Ser) c.3100G>T (p.Ala1034Ser) c.3094G>T (p.Ala1032Ser) c.3076G>T (p.Ala1026Ser) c.3022G>T (p.Ala1008Ser) c.3118-274G>T (n.3118-274G>T) c.2329G>T (p.Ala777Ser) c.2242G>T (p.Ala748Ser) n.3518G>T | dbSNP |
17 | g.39727416C>A | CA399310685 | ERBB2 | c.3281C>A (p.Ala1094Glu) c.3191C>A (p.Ala1064Glu) c.2453C>A (p.Ala818Glu) c.3236C>A (p.Ala1079Glu) c.*3071C>A (n.*3071C>A) c.3160-273C>A (n.3160-273C>A) n.3605C>A c.3419C>A (p.Ala1140Glu) c.3374C>A (p.Ala1125Glu) c.3329C>A (p.Ala1110Glu) c.3398C>A (p.Ala1133Glu) c.3383C>A (p.Ala1128Glu) c.3362C>A (p.Ala1121Glu) c.3356C>A (p.Ala1119Glu) c.3311C>A (p.Ala1104Glu) c.3302C>A (p.Ala1101Glu) c.3278C>A (p.Ala1093Glu) c.3272C>A (p.Ala1091Glu) c.3245C>A (p.Ala1082Glu) c.3239C>A (p.Ala1080Glu) c.3233C>A (p.Ala1078Glu) c.3194C>A (p.Ala1065Glu) c.3182C>A (p.Ala1061Glu) c.3125C>A (p.Ala1042Glu) c.3101C>A (p.Ala1034Glu) c.3095C>A (p.Ala1032Glu) c.3077C>A (p.Ala1026Glu) c.3023C>A (p.Ala1008Glu) c.3118-273C>A (n.3118-273C>A) c.2330C>A (p.Ala777Glu) c.2243C>A (p.Ala748Glu) n.3519C>A | dbSNP |
17 | g.39727416C>G | CA399310688 | ERBB2 | c.3281C>G (p.Ala1094Gly) c.3191C>G (p.Ala1064Gly) c.2453C>G (p.Ala818Gly) c.3236C>G (p.Ala1079Gly) c.*3071C>G (n.*3071C>G) c.3160-273C>G (n.3160-273C>G) n.3605C>G c.3419C>G (p.Ala1140Gly) c.3374C>G (p.Ala1125Gly) c.3329C>G (p.Ala1110Gly) c.3398C>G (p.Ala1133Gly) c.3383C>G (p.Ala1128Gly) c.3362C>G (p.Ala1121Gly) c.3356C>G (p.Ala1119Gly) c.3311C>G (p.Ala1104Gly) c.3302C>G (p.Ala1101Gly) c.3278C>G (p.Ala1093Gly) c.3272C>G (p.Ala1091Gly) c.3245C>G (p.Ala1082Gly) c.3239C>G (p.Ala1080Gly) c.3233C>G (p.Ala1078Gly) c.3194C>G (p.Ala1065Gly) c.3182C>G (p.Ala1061Gly) c.3125C>G (p.Ala1042Gly) c.3101C>G (p.Ala1034Gly) c.3095C>G (p.Ala1032Gly) c.3077C>G (p.Ala1026Gly) c.3023C>G (p.Ala1008Gly) c.3118-273C>G (n.3118-273C>G) c.2330C>G (p.Ala777Gly) c.2243C>G (p.Ala748Gly) n.3519C>G | dbSNP |
17 | g.39727416C>T | CA399310692 | ERBB2 | c.3281C>T (p.Ala1094Val) c.3191C>T (p.Ala1064Val) c.2453C>T (p.Ala818Val) c.3236C>T (p.Ala1079Val) c.*3071C>T (n.*3071C>T) c.3160-273C>T (n.3160-273C>T) n.3605C>T c.3419C>T (p.Ala1140Val) c.3374C>T (p.Ala1125Val) c.3329C>T (p.Ala1110Val) c.3398C>T (p.Ala1133Val) c.3383C>T (p.Ala1128Val) c.3362C>T (p.Ala1121Val) c.3356C>T (p.Ala1119Val) c.3311C>T (p.Ala1104Val) c.3302C>T (p.Ala1101Val) c.3278C>T (p.Ala1093Val) c.3272C>T (p.Ala1091Val) c.3245C>T (p.Ala1082Val) c.3239C>T (p.Ala1080Val) c.3233C>T (p.Ala1078Val) c.3194C>T (p.Ala1065Val) c.3182C>T (p.Ala1061Val) c.3125C>T (p.Ala1042Val) c.3101C>T (p.Ala1034Val) c.3095C>T (p.Ala1032Val) c.3077C>T (p.Ala1026Val) c.3023C>T (p.Ala1008Val) c.3118-273C>T (n.3118-273C>T) c.2330C>T (p.Ala777Val) c.2243C>T (p.Ala748Val) n.3519C>T | dbSNP gnomAD v4 |
17 | g.39727417A>C | CA499671658 | ERBB2 | c.3282A>C (p.Ala1094=) c.3192A>C (p.Ala1064=) c.2454A>C (p.Ala818=) c.3237A>C (p.Ala1079=) c.*3072A>C (n.*3072A>C) c.3160-272A>C (n.3160-272A>C) n.3606A>C c.3420A>C (p.Ala1140=) c.3375A>C (p.Ala1125=) c.3330A>C (p.Ala1110=) c.3399A>C (p.Ala1133=) c.3384A>C (p.Ala1128=) c.3363A>C (p.Ala1121=) c.3357A>C (p.Ala1119=) c.3312A>C (p.Ala1104=) c.3303A>C (p.Ala1101=) c.3279A>C (p.Ala1093=) c.3273A>C (p.Ala1091=) c.3246A>C (p.Ala1082=) c.3240A>C (p.Ala1080=) c.3234A>C (p.Ala1078=) c.3195A>C (p.Ala1065=) c.3183A>C (p.Ala1061=) c.3126A>C (p.Ala1042=) c.3102A>C (p.Ala1034=) c.3096A>C (p.Ala1032=) c.3078A>C (p.Ala1026=) c.3024A>C (p.Ala1008=) c.3118-272A>C (n.3118-272A>C) c.2331A>C (p.Ala777=) c.2244A>C (p.Ala748=) n.3520A>C | |
17 | g.39727417A>G | CA499671659 | ERBB2 | c.3282A>G (p.Ala1094=) c.3192A>G (p.Ala1064=) c.2454A>G (p.Ala818=) c.3237A>G (p.Ala1079=) c.*3072A>G (n.*3072A>G) c.3160-272A>G (n.3160-272A>G) n.3606A>G c.3420A>G (p.Ala1140=) c.3375A>G (p.Ala1125=) c.3330A>G (p.Ala1110=) c.3399A>G (p.Ala1133=) c.3384A>G (p.Ala1128=) c.3363A>G (p.Ala1121=) c.3357A>G (p.Ala1119=) c.3312A>G (p.Ala1104=) c.3303A>G (p.Ala1101=) c.3279A>G (p.Ala1093=) c.3273A>G (p.Ala1091=) c.3246A>G (p.Ala1082=) c.3240A>G (p.Ala1080=) c.3234A>G (p.Ala1078=) c.3195A>G (p.Ala1065=) c.3183A>G (p.Ala1061=) c.3126A>G (p.Ala1042=) c.3102A>G (p.Ala1034=) c.3096A>G (p.Ala1032=) c.3078A>G (p.Ala1026=) c.3024A>G (p.Ala1008=) c.3118-272A>G (n.3118-272A>G) c.2331A>G (p.Ala777=) c.2244A>G (p.Ala748=) n.3520A>G | dbSNP |
17 | g.39727417A>T | CA499671660 | ERBB2 | c.3282A>T (p.Ala1094=) c.3192A>T (p.Ala1064=) c.2454A>T (p.Ala818=) c.3237A>T (p.Ala1079=) c.*3072A>T (n.*3072A>T) c.3160-272A>T (n.3160-272A>T) n.3606A>T c.3420A>T (p.Ala1140=) c.3375A>T (p.Ala1125=) c.3330A>T (p.Ala1110=) c.3399A>T (p.Ala1133=) c.3384A>T (p.Ala1128=) c.3363A>T (p.Ala1121=) c.3357A>T (p.Ala1119=) c.3312A>T (p.Ala1104=) c.3303A>T (p.Ala1101=) c.3279A>T (p.Ala1093=) c.3273A>T (p.Ala1091=) c.3246A>T (p.Ala1082=) c.3240A>T (p.Ala1080=) c.3234A>T (p.Ala1078=) c.3195A>T (p.Ala1065=) c.3183A>T (p.Ala1061=) c.3126A>T (p.Ala1042=) c.3102A>T (p.Ala1034=) c.3096A>T (p.Ala1032=) c.3078A>T (p.Ala1026=) c.3024A>T (p.Ala1008=) c.3118-272A>T (n.3118-272A>T) c.2331A>T (p.Ala777=) c.2244A>T (p.Ala748=) n.3520A>T | dbSNP |
17 | g.39727418G>A | CA399310695 | ERBB2 | c.3283G>A (p.Ala1095Thr) c.3193G>A (p.Ala1065Thr) c.2455G>A (p.Ala819Thr) c.3238G>A (p.Ala1080Thr) c.*3073G>A (n.*3073G>A) c.3160-271G>A (n.3160-271G>A) n.3607G>A c.3421G>A (p.Ala1141Thr) c.3376G>A (p.Ala1126Thr) c.3331G>A (p.Ala1111Thr) c.3400G>A (p.Ala1134Thr) c.3385G>A (p.Ala1129Thr) c.3364G>A (p.Ala1122Thr) c.3358G>A (p.Ala1120Thr) c.3313G>A (p.Ala1105Thr) c.3304G>A (p.Ala1102Thr) c.3280G>A (p.Ala1094Thr) c.3274G>A (p.Ala1092Thr) c.3247G>A (p.Ala1083Thr) c.3241G>A (p.Ala1081Thr) c.3235G>A (p.Ala1079Thr) c.3196G>A (p.Ala1066Thr) c.3184G>A (p.Ala1062Thr) c.3127G>A (p.Ala1043Thr) c.3103G>A (p.Ala1035Thr) c.3097G>A (p.Ala1033Thr) c.3079G>A (p.Ala1027Thr) c.3025G>A (p.Ala1009Thr) c.3118-271G>A (n.3118-271G>A) c.2332G>A (p.Ala778Thr) c.2245G>A (p.Ala749Thr) n.3521G>A | dbSNP gnomAD v4 |
17 | g.39727418G>C | CA399310693 | ERBB2 | c.3283G>C (p.Ala1095Pro) c.3193G>C (p.Ala1065Pro) c.2455G>C (p.Ala819Pro) c.3238G>C (p.Ala1080Pro) c.*3073G>C (n.*3073G>C) c.3160-271G>C (n.3160-271G>C) n.3607G>C c.3421G>C (p.Ala1141Pro) c.3376G>C (p.Ala1126Pro) c.3331G>C (p.Ala1111Pro) c.3400G>C (p.Ala1134Pro) c.3385G>C (p.Ala1129Pro) c.3364G>C (p.Ala1122Pro) c.3358G>C (p.Ala1120Pro) c.3313G>C (p.Ala1105Pro) c.3304G>C (p.Ala1102Pro) c.3280G>C (p.Ala1094Pro) c.3274G>C (p.Ala1092Pro) c.3247G>C (p.Ala1083Pro) c.3241G>C (p.Ala1081Pro) c.3235G>C (p.Ala1079Pro) c.3196G>C (p.Ala1066Pro) c.3184G>C (p.Ala1062Pro) c.3127G>C (p.Ala1043Pro) c.3103G>C (p.Ala1035Pro) c.3097G>C (p.Ala1033Pro) c.3079G>C (p.Ala1027Pro) c.3025G>C (p.Ala1009Pro) c.3118-271G>C (n.3118-271G>C) c.2332G>C (p.Ala778Pro) c.2245G>C (p.Ala749Pro) n.3521G>C | dbSNP |
17 | g.39727418G>T | CA399310694 | ERBB2 | c.3283G>T (p.Ala1095Ser) c.3193G>T (p.Ala1065Ser) c.2455G>T (p.Ala819Ser) c.3238G>T (p.Ala1080Ser) c.*3073G>T (n.*3073G>T) c.3160-271G>T (n.3160-271G>T) n.3607G>T c.3421G>T (p.Ala1141Ser) c.3376G>T (p.Ala1126Ser) c.3331G>T (p.Ala1111Ser) c.3400G>T (p.Ala1134Ser) c.3385G>T (p.Ala1129Ser) c.3364G>T (p.Ala1122Ser) c.3358G>T (p.Ala1120Ser) c.3313G>T (p.Ala1105Ser) c.3304G>T (p.Ala1102Ser) c.3280G>T (p.Ala1094Ser) c.3274G>T (p.Ala1092Ser) c.3247G>T (p.Ala1083Ser) c.3241G>T (p.Ala1081Ser) c.3235G>T (p.Ala1079Ser) c.3196G>T (p.Ala1066Ser) c.3184G>T (p.Ala1062Ser) c.3127G>T (p.Ala1043Ser) c.3103G>T (p.Ala1035Ser) c.3097G>T (p.Ala1033Ser) c.3079G>T (p.Ala1027Ser) c.3025G>T (p.Ala1009Ser) c.3118-271G>T (n.3118-271G>T) c.2332G>T (p.Ala778Ser) c.2245G>T (p.Ala749Ser) n.3521G>T | dbSNP |
17 | g.39727418_39727419delinsGC | CA2259228791 | ERBB2 | c.3283_3284delinsGC (p.Ala1095=) c.3193_3194delinsGC (p.Ala1065=) c.2455_2456delinsGC (p.Ala819=) c.3238_3239delinsGC (p.Ala1080=) c.*3073_*3074delinsGC (n.*3073_*3074delinsGC) c.3160-271_3160-270delinsGC (n.3160-271_3160-270delinsGC) n.3607_3608delinsGC c.3421_3422delinsGC (p.Ala1141=) c.3376_3377delinsGC (p.Ala1126=) c.3331_3332delinsGC (p.Ala1111=) c.3400_3401delinsGC (p.Ala1134=) c.3385_3386delinsGC (p.Ala1129=) c.3364_3365delinsGC (p.Ala1122=) c.3358_3359delinsGC (p.Ala1120=) c.3313_3314delinsGC (p.Ala1105=) c.3304_3305delinsGC (p.Ala1102=) c.3280_3281delinsGC (p.Ala1094=) c.3274_3275delinsGC (p.Ala1092=) c.3247_3248delinsGC (p.Ala1083=) c.3241_3242delinsGC (p.Ala1081=) c.3235_3236delinsGC (p.Ala1079=) c.3196_3197delinsGC (p.Ala1066=) c.3184_3185delinsGC (p.Ala1062=) c.3127_3128delinsGC (p.Ala1043=) c.3103_3104delinsGC (p.Ala1035=) c.3097_3098delinsGC (p.Ala1033=) c.3079_3080delinsGC (p.Ala1027=) c.3025_3026delinsGC (p.Ala1009=) c.3118-271_3118-270delinsGC (n.3118-271_3118-270delinsGC) c.2332_2333delinsGC (p.Ala778=) c.2245_2246delinsGC (p.Ala749=) n.3521_3522delinsGC | |
17 | g.39727419C>A | CA399310698 | ERBB2 | c.3284C>A (p.Ala1095Asp) c.3194C>A (p.Ala1065Asp) c.2456C>A (p.Ala819Asp) c.3239C>A (p.Ala1080Asp) c.*3074C>A (n.*3074C>A) c.3160-270C>A (n.3160-270C>A) n.3608C>A c.3422C>A (p.Ala1141Asp) c.3377C>A (p.Ala1126Asp) c.3332C>A (p.Ala1111Asp) c.3401C>A (p.Ala1134Asp) c.3386C>A (p.Ala1129Asp) c.3365C>A (p.Ala1122Asp) c.3359C>A (p.Ala1120Asp) c.3314C>A (p.Ala1105Asp) c.3305C>A (p.Ala1102Asp) c.3281C>A (p.Ala1094Asp) c.3275C>A (p.Ala1092Asp) c.3248C>A (p.Ala1083Asp) c.3242C>A (p.Ala1081Asp) c.3236C>A (p.Ala1079Asp) c.3197C>A (p.Ala1066Asp) c.3185C>A (p.Ala1062Asp) c.3128C>A (p.Ala1043Asp) c.3104C>A (p.Ala1035Asp) c.3098C>A (p.Ala1033Asp) c.3080C>A (p.Ala1027Asp) c.3026C>A (p.Ala1009Asp) c.3118-270C>A (n.3118-270C>A) c.2333C>A (p.Ala778Asp) c.2246C>A (p.Ala749Asp) n.3522C>A | dbSNP |
17 | g.39727419C>G | CA399310700 | ERBB2 | c.3284C>G (p.Ala1095Gly) c.3194C>G (p.Ala1065Gly) c.2456C>G (p.Ala819Gly) c.3239C>G (p.Ala1080Gly) c.*3074C>G (n.*3074C>G) c.3160-270C>G (n.3160-270C>G) n.3608C>G c.3422C>G (p.Ala1141Gly) c.3377C>G (p.Ala1126Gly) c.3332C>G (p.Ala1111Gly) c.3401C>G (p.Ala1134Gly) c.3386C>G (p.Ala1129Gly) c.3365C>G (p.Ala1122Gly) c.3359C>G (p.Ala1120Gly) c.3314C>G (p.Ala1105Gly) c.3305C>G (p.Ala1102Gly) c.3281C>G (p.Ala1094Gly) c.3275C>G (p.Ala1092Gly) c.3248C>G (p.Ala1083Gly) c.3242C>G (p.Ala1081Gly) c.3236C>G (p.Ala1079Gly) c.3197C>G (p.Ala1066Gly) c.3185C>G (p.Ala1062Gly) c.3128C>G (p.Ala1043Gly) c.3104C>G (p.Ala1035Gly) c.3098C>G (p.Ala1033Gly) c.3080C>G (p.Ala1027Gly) c.3026C>G (p.Ala1009Gly) c.3118-270C>G (n.3118-270C>G) c.2333C>G (p.Ala778Gly) c.2246C>G (p.Ala749Gly) n.3522C>G | dbSNP |
17 | g.39727419C>T | CA399310702 | ERBB2 | c.3284C>T (p.Ala1095Val) c.3194C>T (p.Ala1065Val) c.2456C>T (p.Ala819Val) c.3239C>T (p.Ala1080Val) c.*3074C>T (n.*3074C>T) c.3160-270C>T (n.3160-270C>T) n.3608C>T c.3422C>T (p.Ala1141Val) c.3377C>T (p.Ala1126Val) c.3332C>T (p.Ala1111Val) c.3401C>T (p.Ala1134Val) c.3386C>T (p.Ala1129Val) c.3365C>T (p.Ala1122Val) c.3359C>T (p.Ala1120Val) c.3314C>T (p.Ala1105Val) c.3305C>T (p.Ala1102Val) c.3281C>T (p.Ala1094Val) c.3275C>T (p.Ala1092Val) c.3248C>T (p.Ala1083Val) c.3242C>T (p.Ala1081Val) c.3236C>T (p.Ala1079Val) c.3197C>T (p.Ala1066Val) c.3185C>T (p.Ala1062Val) c.3128C>T (p.Ala1043Val) c.3104C>T (p.Ala1035Val) c.3098C>T (p.Ala1033Val) c.3080C>T (p.Ala1027Val) c.3026C>T (p.Ala1009Val) c.3118-270C>T (n.3118-270C>T) c.2333C>T (p.Ala778Val) c.2246C>T (p.Ala749Val) n.3522C>T | dbSNP |
17 | g.39727420del | CA626209664 | ERBB2 | c.3285del (p.Lys1096ArgfsTer?) c.3195del (p.Lys1066ArgfsTer?) c.2457del (p.Lys820ArgfsTer?) c.3240del (p.Lys1081ArgfsTer?) c.*3075del (n.*3075del) c.3160-269del (n.3160-269del) n.3609del c.3423del (p.Lys1142ArgfsTer?) c.3378del (p.Lys1127ArgfsTer?) c.3333del (p.Lys1112ArgfsTer?) c.3402del (p.Lys1135ArgfsTer?) c.3387del (p.Lys1130ArgfsTer?) c.3366del (p.Lys1123ArgfsTer?) c.3360del (p.Lys1121ArgfsTer?) c.3315del (p.Lys1106ArgfsTer?) c.3306del (p.Lys1103ArgfsTer?) c.3282del (p.Lys1095ArgfsTer?) c.3276del (p.Lys1093ArgfsTer?) c.3249del (p.Lys1084ArgfsTer?) c.3243del (p.Lys1082ArgfsTer?) c.3237del (p.Lys1080ArgfsTer?) c.3198del (p.Lys1067ArgfsTer?) c.3186del (p.Lys1063ArgfsTer?) c.3129del (p.Lys1044ArgfsTer?) c.3105del (p.Lys1036ArgfsTer?) c.3099del (p.Lys1034ArgfsTer?) c.3081del (p.Lys1028ArgfsTer?) c.3027del (p.Lys1010ArgfsTer?) c.3118-269del (n.3118-269del) c.2334del (p.Lys779ArgfsTer?) c.2247del (p.Lys750ArgfsTer?) n.3523del | dbSNP gnomAD v2 |
17 | g.39727420C>A | CA499671661 | ERBB2 | c.3285C>A (p.Ala1095=) c.3195C>A (p.Ala1065=) c.2457C>A (p.Ala819=) c.3240C>A (p.Ala1080=) c.*3075C>A (n.*3075C>A) c.3160-269C>A (n.3160-269C>A) n.3609C>A c.3423C>A (p.Ala1141=) c.3378C>A (p.Ala1126=) c.3333C>A (p.Ala1111=) c.3402C>A (p.Ala1134=) c.3387C>A (p.Ala1129=) c.3366C>A (p.Ala1122=) c.3360C>A (p.Ala1120=) c.3315C>A (p.Ala1105=) c.3306C>A (p.Ala1102=) c.3282C>A (p.Ala1094=) c.3276C>A (p.Ala1092=) c.3249C>A (p.Ala1083=) c.3243C>A (p.Ala1081=) c.3237C>A (p.Ala1079=) c.3198C>A (p.Ala1066=) c.3186C>A (p.Ala1062=) c.3129C>A (p.Ala1043=) c.3105C>A (p.Ala1035=) c.3099C>A (p.Ala1033=) c.3081C>A (p.Ala1027=) c.3027C>A (p.Ala1009=) c.3118-269C>A (n.3118-269C>A) c.2334C>A (p.Ala778=) c.2247C>A (p.Ala749=) n.3523C>A | |
17 | g.39727420C>G | CA499671662 | ERBB2 | c.3285C>G (p.Ala1095=) c.3195C>G (p.Ala1065=) c.2457C>G (p.Ala819=) c.3240C>G (p.Ala1080=) c.*3075C>G (n.*3075C>G) c.3160-269C>G (n.3160-269C>G) n.3609C>G c.3423C>G (p.Ala1141=) c.3378C>G (p.Ala1126=) c.3333C>G (p.Ala1111=) c.3402C>G (p.Ala1134=) c.3387C>G (p.Ala1129=) c.3366C>G (p.Ala1122=) c.3360C>G (p.Ala1120=) c.3315C>G (p.Ala1105=) c.3306C>G (p.Ala1102=) c.3282C>G (p.Ala1094=) c.3276C>G (p.Ala1092=) c.3249C>G (p.Ala1083=) c.3243C>G (p.Ala1081=) c.3237C>G (p.Ala1079=) c.3198C>G (p.Ala1066=) c.3186C>G (p.Ala1062=) c.3129C>G (p.Ala1043=) c.3105C>G (p.Ala1035=) c.3099C>G (p.Ala1033=) c.3081C>G (p.Ala1027=) c.3027C>G (p.Ala1009=) c.3118-269C>G (n.3118-269C>G) c.2334C>G (p.Ala778=) c.2247C>G (p.Ala749=) n.3523C>G | |
17 | g.39727420C>T | CA499671663 | ERBB2 | c.3285C>T (p.Ala1095=) c.3195C>T (p.Ala1065=) c.2457C>T (p.Ala819=) c.3240C>T (p.Ala1080=) c.*3075C>T (n.*3075C>T) c.3160-269C>T (n.3160-269C>T) n.3609C>T c.3423C>T (p.Ala1141=) c.3378C>T (p.Ala1126=) c.3333C>T (p.Ala1111=) c.3402C>T (p.Ala1134=) c.3387C>T (p.Ala1129=) c.3366C>T (p.Ala1122=) c.3360C>T (p.Ala1120=) c.3315C>T (p.Ala1105=) c.3306C>T (p.Ala1102=) c.3282C>T (p.Ala1094=) c.3276C>T (p.Ala1092=) c.3249C>T (p.Ala1083=) c.3243C>T (p.Ala1081=) c.3237C>T (p.Ala1079=) c.3198C>T (p.Ala1066=) c.3186C>T (p.Ala1062=) c.3129C>T (p.Ala1043=) c.3105C>T (p.Ala1035=) c.3099C>T (p.Ala1033=) c.3081C>T (p.Ala1027=) c.3027C>T (p.Ala1009=) c.3118-269C>T (n.3118-269C>T) c.2334C>T (p.Ala778=) c.2247C>T (p.Ala749=) n.3523C>T | |
17 | g.39727421A>C | CA399310715 | ERBB2 | c.3286A>C (p.Lys1096Gln) c.3196A>C (p.Lys1066Gln) c.2458A>C (p.Lys820Gln) c.3241A>C (p.Lys1081Gln) c.*3076A>C (n.*3076A>C) c.3160-268A>C (n.3160-268A>C) n.3610A>C c.3424A>C (p.Lys1142Gln) c.3379A>C (p.Lys1127Gln) c.3334A>C (p.Lys1112Gln) c.3403A>C (p.Lys1135Gln) c.3388A>C (p.Lys1130Gln) c.3367A>C (p.Lys1123Gln) c.3361A>C (p.Lys1121Gln) c.3316A>C (p.Lys1106Gln) c.3307A>C (p.Lys1103Gln) c.3283A>C (p.Lys1095Gln) c.3277A>C (p.Lys1093Gln) c.3250A>C (p.Lys1084Gln) c.3244A>C (p.Lys1082Gln) c.3238A>C (p.Lys1080Gln) c.3199A>C (p.Lys1067Gln) c.3187A>C (p.Lys1063Gln) c.3130A>C (p.Lys1044Gln) c.3106A>C (p.Lys1036Gln) c.3100A>C (p.Lys1034Gln) c.3082A>C (p.Lys1028Gln) c.3028A>C (p.Lys1010Gln) c.3118-268A>C (n.3118-268A>C) c.2335A>C (p.Lys779Gln) c.2248A>C (p.Lys750Gln) n.3524A>C | dbSNP gnomAD v4 |
17 | g.39727421A>G | CA399310719 | ERBB2 | c.3286A>G (p.Lys1096Glu) c.3196A>G (p.Lys1066Glu) c.2458A>G (p.Lys820Glu) c.3241A>G (p.Lys1081Glu) c.*3076A>G (n.*3076A>G) c.3160-268A>G (n.3160-268A>G) n.3610A>G c.3424A>G (p.Lys1142Glu) c.3379A>G (p.Lys1127Glu) c.3334A>G (p.Lys1112Glu) c.3403A>G (p.Lys1135Glu) c.3388A>G (p.Lys1130Glu) c.3367A>G (p.Lys1123Glu) c.3361A>G (p.Lys1121Glu) c.3316A>G (p.Lys1106Glu) c.3307A>G (p.Lys1103Glu) c.3283A>G (p.Lys1095Glu) c.3277A>G (p.Lys1093Glu) c.3250A>G (p.Lys1084Glu) c.3244A>G (p.Lys1082Glu) c.3238A>G (p.Lys1080Glu) c.3199A>G (p.Lys1067Glu) c.3187A>G (p.Lys1063Glu) c.3130A>G (p.Lys1044Glu) c.3106A>G (p.Lys1036Glu) c.3100A>G (p.Lys1034Glu) c.3082A>G (p.Lys1028Glu) c.3028A>G (p.Lys1010Glu) c.3118-268A>G (n.3118-268A>G) c.2335A>G (p.Lys779Glu) c.2248A>G (p.Lys750Glu) n.3524A>G | |
17 | g.39727421A>T | CA399310724 | ERBB2 | c.3286A>T (p.Lys1096Ter) c.3196A>T (p.Lys1066Ter) c.2458A>T (p.Lys820Ter) c.3241A>T (p.Lys1081Ter) c.*3076A>T (n.*3076A>T) c.3160-268A>T (n.3160-268A>T) n.3610A>T c.3424A>T (p.Lys1142Ter) c.3379A>T (p.Lys1127Ter) c.3334A>T (p.Lys1112Ter) c.3403A>T (p.Lys1135Ter) c.3388A>T (p.Lys1130Ter) c.3367A>T (p.Lys1123Ter) c.3361A>T (p.Lys1121Ter) c.3316A>T (p.Lys1106Ter) c.3307A>T (p.Lys1103Ter) c.3283A>T (p.Lys1095Ter) c.3277A>T (p.Lys1093Ter) c.3250A>T (p.Lys1084Ter) c.3244A>T (p.Lys1082Ter) c.3238A>T (p.Lys1080Ter) c.3199A>T (p.Lys1067Ter) c.3187A>T (p.Lys1063Ter) c.3130A>T (p.Lys1044Ter) c.3106A>T (p.Lys1036Ter) c.3100A>T (p.Lys1034Ter) c.3082A>T (p.Lys1028Ter) c.3028A>T (p.Lys1010Ter) c.3118-268A>T (n.3118-268A>T) c.2335A>T (p.Lys779Ter) c.2248A>T (p.Lys750Ter) n.3524A>T | dbSNP |
17 | g.39727422A>C | CA399310730 | ERBB2 | c.3287A>C (p.Lys1096Thr) c.3197A>C (p.Lys1066Thr) c.2459A>C (p.Lys820Thr) c.3242A>C (p.Lys1081Thr) c.*3077A>C (n.*3077A>C) c.3160-267A>C (n.3160-267A>C) n.3611A>C c.3425A>C (p.Lys1142Thr) c.3380A>C (p.Lys1127Thr) c.3335A>C (p.Lys1112Thr) c.3404A>C (p.Lys1135Thr) c.3389A>C (p.Lys1130Thr) c.3368A>C (p.Lys1123Thr) c.3362A>C (p.Lys1121Thr) c.3317A>C (p.Lys1106Thr) c.3308A>C (p.Lys1103Thr) c.3284A>C (p.Lys1095Thr) c.3278A>C (p.Lys1093Thr) c.3251A>C (p.Lys1084Thr) c.3245A>C (p.Lys1082Thr) c.3239A>C (p.Lys1080Thr) c.3200A>C (p.Lys1067Thr) c.3188A>C (p.Lys1063Thr) c.3131A>C (p.Lys1044Thr) c.3107A>C (p.Lys1036Thr) c.3101A>C (p.Lys1034Thr) c.3083A>C (p.Lys1028Thr) c.3029A>C (p.Lys1010Thr) c.3118-267A>C (n.3118-267A>C) c.2336A>C (p.Lys779Thr) c.2249A>C (p.Lys750Thr) n.3525A>C | gnomAD v4 |
17 | g.39727422A>G | CA399310733 | ERBB2 | c.3287A>G (p.Lys1096Arg) c.3197A>G (p.Lys1066Arg) c.2459A>G (p.Lys820Arg) c.3242A>G (p.Lys1081Arg) c.*3077A>G (n.*3077A>G) c.3160-267A>G (n.3160-267A>G) n.3611A>G c.3425A>G (p.Lys1142Arg) c.3380A>G (p.Lys1127Arg) c.3335A>G (p.Lys1112Arg) c.3404A>G (p.Lys1135Arg) c.3389A>G (p.Lys1130Arg) c.3368A>G (p.Lys1123Arg) c.3362A>G (p.Lys1121Arg) c.3317A>G (p.Lys1106Arg) c.3308A>G (p.Lys1103Arg) c.3284A>G (p.Lys1095Arg) c.3278A>G (p.Lys1093Arg) c.3251A>G (p.Lys1084Arg) c.3245A>G (p.Lys1082Arg) c.3239A>G (p.Lys1080Arg) c.3200A>G (p.Lys1067Arg) c.3188A>G (p.Lys1063Arg) c.3131A>G (p.Lys1044Arg) c.3107A>G (p.Lys1036Arg) c.3101A>G (p.Lys1034Arg) c.3083A>G (p.Lys1028Arg) c.3029A>G (p.Lys1010Arg) c.3118-267A>G (n.3118-267A>G) c.2336A>G (p.Lys779Arg) c.2249A>G (p.Lys750Arg) n.3525A>G | |
17 | g.39727422A>T | CA399310737 | ERBB2 | c.3287A>T (p.Lys1096Met) c.3197A>T (p.Lys1066Met) c.2459A>T (p.Lys820Met) c.3242A>T (p.Lys1081Met) c.*3077A>T (n.*3077A>T) c.3160-267A>T (n.3160-267A>T) n.3611A>T c.3425A>T (p.Lys1142Met) c.3380A>T (p.Lys1127Met) c.3335A>T (p.Lys1112Met) c.3404A>T (p.Lys1135Met) c.3389A>T (p.Lys1130Met) c.3368A>T (p.Lys1123Met) c.3362A>T (p.Lys1121Met) c.3317A>T (p.Lys1106Met) c.3308A>T (p.Lys1103Met) c.3284A>T (p.Lys1095Met) c.3278A>T (p.Lys1093Met) c.3251A>T (p.Lys1084Met) c.3245A>T (p.Lys1082Met) c.3239A>T (p.Lys1080Met) c.3200A>T (p.Lys1067Met) c.3188A>T (p.Lys1063Met) c.3131A>T (p.Lys1044Met) c.3107A>T (p.Lys1036Met) c.3101A>T (p.Lys1034Met) c.3083A>T (p.Lys1028Met) c.3029A>T (p.Lys1010Met) c.3118-267A>T (n.3118-267A>T) c.2336A>T (p.Lys779Met) c.2249A>T (p.Lys750Met) n.3525A>T | |
17 | g.39727423G>A | CA499671664 | ERBB2 | c.3288G>A (p.Lys1096=) c.3198G>A (p.Lys1066=) c.2460G>A (p.Lys820=) c.3243G>A (p.Lys1081=) c.*3078G>A (n.*3078G>A) c.3160-266G>A (n.3160-266G>A) n.3612G>A c.3426G>A (p.Lys1142=) c.3381G>A (p.Lys1127=) c.3336G>A (p.Lys1112=) c.3405G>A (p.Lys1135=) c.3390G>A (p.Lys1130=) c.3369G>A (p.Lys1123=) c.3363G>A (p.Lys1121=) c.3318G>A (p.Lys1106=) c.3309G>A (p.Lys1103=) c.3285G>A (p.Lys1095=) c.3279G>A (p.Lys1093=) c.3252G>A (p.Lys1084=) c.3246G>A (p.Lys1082=) c.3240G>A (p.Lys1080=) c.3201G>A (p.Lys1067=) c.3189G>A (p.Lys1063=) c.3132G>A (p.Lys1044=) c.3108G>A (p.Lys1036=) c.3102G>A (p.Lys1034=) c.3084G>A (p.Lys1028=) c.3030G>A (p.Lys1010=) c.3118-266G>A (n.3118-266G>A) c.2337G>A (p.Lys779=) c.2250G>A (p.Lys750=) n.3526G>A | dbSNP |
17 | g.39727423G>C | CA8534517 | ERBB2 | c.3288G>C (p.Lys1096Asn) c.3198G>C (p.Lys1066Asn) c.2460G>C (p.Lys820Asn) c.3243G>C (p.Lys1081Asn) c.*3078G>C (n.*3078G>C) c.3160-266G>C (n.3160-266G>C) n.3612G>C c.3426G>C (p.Lys1142Asn) c.3381G>C (p.Lys1127Asn) c.3336G>C (p.Lys1112Asn) c.3405G>C (p.Lys1135Asn) c.3390G>C (p.Lys1130Asn) c.3369G>C (p.Lys1123Asn) c.3363G>C (p.Lys1121Asn) c.3318G>C (p.Lys1106Asn) c.3309G>C (p.Lys1103Asn) c.3285G>C (p.Lys1095Asn) c.3279G>C (p.Lys1093Asn) c.3252G>C (p.Lys1084Asn) c.3246G>C (p.Lys1082Asn) c.3240G>C (p.Lys1080Asn) c.3201G>C (p.Lys1067Asn) c.3189G>C (p.Lys1063Asn) c.3132G>C (p.Lys1044Asn) c.3108G>C (p.Lys1036Asn) c.3102G>C (p.Lys1034Asn) c.3084G>C (p.Lys1028Asn) c.3030G>C (p.Lys1010Asn) c.3118-266G>C (n.3118-266G>C) c.2337G>C (p.Lys779Asn) c.2250G>C (p.Lys750Asn) n.3526G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727423G= | CA2259228792 | ERBB2 | c.3288G= (p.Lys1096=) c.3198G= (p.Lys1066=) c.2460G= (p.Lys820=) c.3243G= (p.Lys1081=) c.*3078G= (n.*3078G=) c.3160-266G= (n.3160-266G=) n.3612G= c.3426G= (p.Lys1142=) c.3381G= (p.Lys1127=) c.3336G= (p.Lys1112=) c.3405G= (p.Lys1135=) c.3390G= (p.Lys1130=) c.3369G= (p.Lys1123=) c.3363G= (p.Lys1121=) c.3318G= (p.Lys1106=) c.3309G= (p.Lys1103=) c.3285G= (p.Lys1095=) c.3279G= (p.Lys1093=) c.3252G= (p.Lys1084=) c.3246G= (p.Lys1082=) c.3240G= (p.Lys1080=) c.3201G= (p.Lys1067=) c.3189G= (p.Lys1063=) c.3132G= (p.Lys1044=) c.3108G= (p.Lys1036=) c.3102G= (p.Lys1034=) c.3084G= (p.Lys1028=) c.3030G= (p.Lys1010=) c.3118-266G= (n.3118-266G=) c.2337G= (p.Lys779=) c.2250G= (p.Lys750=) n.3526G= | |
17 | g.39727423G>T | CA399310743 | ERBB2 | c.3288G>T (p.Lys1096Asn) c.3198G>T (p.Lys1066Asn) c.2460G>T (p.Lys820Asn) c.3243G>T (p.Lys1081Asn) c.*3078G>T (n.*3078G>T) c.3160-266G>T (n.3160-266G>T) n.3612G>T c.3426G>T (p.Lys1142Asn) c.3381G>T (p.Lys1127Asn) c.3336G>T (p.Lys1112Asn) c.3405G>T (p.Lys1135Asn) c.3390G>T (p.Lys1130Asn) c.3369G>T (p.Lys1123Asn) c.3363G>T (p.Lys1121Asn) c.3318G>T (p.Lys1106Asn) c.3309G>T (p.Lys1103Asn) c.3285G>T (p.Lys1095Asn) c.3279G>T (p.Lys1093Asn) c.3252G>T (p.Lys1084Asn) c.3246G>T (p.Lys1082Asn) c.3240G>T (p.Lys1080Asn) c.3201G>T (p.Lys1067Asn) c.3189G>T (p.Lys1063Asn) c.3132G>T (p.Lys1044Asn) c.3108G>T (p.Lys1036Asn) c.3102G>T (p.Lys1034Asn) c.3084G>T (p.Lys1028Asn) c.3030G>T (p.Lys1010Asn) c.3118-266G>T (n.3118-266G>T) c.2337G>T (p.Lys779Asn) c.2250G>T (p.Lys750Asn) n.3526G>T | dbSNP |
17 | g.39727424G>A | CA8534518 | ERBB2 | c.3289G>A (p.Gly1097Arg) c.3199G>A (p.Gly1067Arg) c.2461G>A (p.Gly821Arg) c.3244G>A (p.Gly1082Arg) c.*3079G>A (n.*3079G>A) c.3160-265G>A (n.3160-265G>A) n.3613G>A c.3427G>A (p.Gly1143Arg) c.3382G>A (p.Gly1128Arg) c.3337G>A (p.Gly1113Arg) c.3406G>A (p.Gly1136Arg) c.3391G>A (p.Gly1131Arg) c.3370G>A (p.Gly1124Arg) c.3364G>A (p.Gly1122Arg) c.3319G>A (p.Gly1107Arg) c.3310G>A (p.Gly1104Arg) c.3286G>A (p.Gly1096Arg) c.3280G>A (p.Gly1094Arg) c.3253G>A (p.Gly1085Arg) c.3247G>A (p.Gly1083Arg) c.3241G>A (p.Gly1081Arg) c.3202G>A (p.Gly1068Arg) c.3190G>A (p.Gly1064Arg) c.3133G>A (p.Gly1045Arg) c.3109G>A (p.Gly1037Arg) c.3103G>A (p.Gly1035Arg) c.3085G>A (p.Gly1029Arg) c.3031G>A (p.Gly1011Arg) c.3118-265G>A (n.3118-265G>A) c.2338G>A (p.Gly780Arg) c.2251G>A (p.Gly751Arg) n.3527G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727424G>C | CA399310753 | ERBB2 | c.3289G>C (p.Gly1097Arg) c.3199G>C (p.Gly1067Arg) c.2461G>C (p.Gly821Arg) c.3244G>C (p.Gly1082Arg) c.*3079G>C (n.*3079G>C) c.3160-265G>C (n.3160-265G>C) n.3613G>C c.3427G>C (p.Gly1143Arg) c.3382G>C (p.Gly1128Arg) c.3337G>C (p.Gly1113Arg) c.3406G>C (p.Gly1136Arg) c.3391G>C (p.Gly1131Arg) c.3370G>C (p.Gly1124Arg) c.3364G>C (p.Gly1122Arg) c.3319G>C (p.Gly1107Arg) c.3310G>C (p.Gly1104Arg) c.3286G>C (p.Gly1096Arg) c.3280G>C (p.Gly1094Arg) c.3253G>C (p.Gly1085Arg) c.3247G>C (p.Gly1083Arg) c.3241G>C (p.Gly1081Arg) c.3202G>C (p.Gly1068Arg) c.3190G>C (p.Gly1064Arg) c.3133G>C (p.Gly1045Arg) c.3109G>C (p.Gly1037Arg) c.3103G>C (p.Gly1035Arg) c.3085G>C (p.Gly1029Arg) c.3031G>C (p.Gly1011Arg) c.3118-265G>C (n.3118-265G>C) c.2338G>C (p.Gly780Arg) c.2251G>C (p.Gly751Arg) n.3527G>C | |
17 | g.39727424G= | CA2259228794 | ERBB2 | c.3289G= (p.Gly1097=) c.3199G= (p.Gly1067=) c.2461G= (p.Gly821=) c.3244G= (p.Gly1082=) c.*3079G= (n.*3079G=) c.3160-265G= (n.3160-265G=) n.3613G= c.3427G= (p.Gly1143=) c.3382G= (p.Gly1128=) c.3337G= (p.Gly1113=) c.3406G= (p.Gly1136=) c.3391G= (p.Gly1131=) c.3370G= (p.Gly1124=) c.3364G= (p.Gly1122=) c.3319G= (p.Gly1107=) c.3310G= (p.Gly1104=) c.3286G= (p.Gly1096=) c.3280G= (p.Gly1094=) c.3253G= (p.Gly1085=) c.3247G= (p.Gly1083=) c.3241G= (p.Gly1081=) c.3202G= (p.Gly1068=) c.3190G= (p.Gly1064=) c.3133G= (p.Gly1045=) c.3109G= (p.Gly1037=) c.3103G= (p.Gly1035=) c.3085G= (p.Gly1029=) c.3031G= (p.Gly1011=) c.3118-265G= (n.3118-265G=) c.2338G= (p.Gly780=) c.2251G= (p.Gly751=) n.3527G= | |
17 | g.39727424G>T | CA399310747 | ERBB2 | c.3289G>T (p.Gly1097Trp) c.3199G>T (p.Gly1067Trp) c.2461G>T (p.Gly821Trp) c.3244G>T (p.Gly1082Trp) c.*3079G>T (n.*3079G>T) c.3160-265G>T (n.3160-265G>T) n.3613G>T c.3427G>T (p.Gly1143Trp) c.3382G>T (p.Gly1128Trp) c.3337G>T (p.Gly1113Trp) c.3406G>T (p.Gly1136Trp) c.3391G>T (p.Gly1131Trp) c.3370G>T (p.Gly1124Trp) c.3364G>T (p.Gly1122Trp) c.3319G>T (p.Gly1107Trp) c.3310G>T (p.Gly1104Trp) c.3286G>T (p.Gly1096Trp) c.3280G>T (p.Gly1094Trp) c.3253G>T (p.Gly1085Trp) c.3247G>T (p.Gly1083Trp) c.3241G>T (p.Gly1081Trp) c.3202G>T (p.Gly1068Trp) c.3190G>T (p.Gly1064Trp) c.3133G>T (p.Gly1045Trp) c.3109G>T (p.Gly1037Trp) c.3103G>T (p.Gly1035Trp) c.3085G>T (p.Gly1029Trp) c.3031G>T (p.Gly1011Trp) c.3118-265G>T (n.3118-265G>T) c.2338G>T (p.Gly780Trp) c.2251G>T (p.Gly751Trp) n.3527G>T | |
17 | g.39727425G>A | CA399310759 | ERBB2 | c.3290G>A (p.Gly1097Glu) c.3200G>A (p.Gly1067Glu) c.2462G>A (p.Gly821Glu) c.3245G>A (p.Gly1082Glu) c.*3080G>A (n.*3080G>A) c.3160-264G>A (n.3160-264G>A) n.3614G>A c.3428G>A (p.Gly1143Glu) c.3383G>A (p.Gly1128Glu) c.3338G>A (p.Gly1113Glu) c.3407G>A (p.Gly1136Glu) c.3392G>A (p.Gly1131Glu) c.3371G>A (p.Gly1124Glu) c.3365G>A (p.Gly1122Glu) c.3320G>A (p.Gly1107Glu) c.3311G>A (p.Gly1104Glu) c.3287G>A (p.Gly1096Glu) c.3281G>A (p.Gly1094Glu) c.3254G>A (p.Gly1085Glu) c.3248G>A (p.Gly1083Glu) c.3242G>A (p.Gly1081Glu) c.3203G>A (p.Gly1068Glu) c.3191G>A (p.Gly1064Glu) c.3134G>A (p.Gly1045Glu) c.3110G>A (p.Gly1037Glu) c.3104G>A (p.Gly1035Glu) c.3086G>A (p.Gly1029Glu) c.3032G>A (p.Gly1011Glu) c.3118-264G>A (n.3118-264G>A) c.2339G>A (p.Gly780Glu) c.2252G>A (p.Gly751Glu) n.3528G>A | dbSNP |
17 | g.39727425G>C | CA399310764 | ERBB2 | c.3290G>C (p.Gly1097Ala) c.3200G>C (p.Gly1067Ala) c.2462G>C (p.Gly821Ala) c.3245G>C (p.Gly1082Ala) c.*3080G>C (n.*3080G>C) c.3160-264G>C (n.3160-264G>C) n.3614G>C c.3428G>C (p.Gly1143Ala) c.3383G>C (p.Gly1128Ala) c.3338G>C (p.Gly1113Ala) c.3407G>C (p.Gly1136Ala) c.3392G>C (p.Gly1131Ala) c.3371G>C (p.Gly1124Ala) c.3365G>C (p.Gly1122Ala) c.3320G>C (p.Gly1107Ala) c.3311G>C (p.Gly1104Ala) c.3287G>C (p.Gly1096Ala) c.3281G>C (p.Gly1094Ala) c.3254G>C (p.Gly1085Ala) c.3248G>C (p.Gly1083Ala) c.3242G>C (p.Gly1081Ala) c.3203G>C (p.Gly1068Ala) c.3191G>C (p.Gly1064Ala) c.3134G>C (p.Gly1045Ala) c.3110G>C (p.Gly1037Ala) c.3104G>C (p.Gly1035Ala) c.3086G>C (p.Gly1029Ala) c.3032G>C (p.Gly1011Ala) c.3118-264G>C (n.3118-264G>C) c.2339G>C (p.Gly780Ala) c.2252G>C (p.Gly751Ala) n.3528G>C | dbSNP |
17 | g.39727425G>T | CA399310763 | ERBB2 | c.3290G>T (p.Gly1097Val) c.3200G>T (p.Gly1067Val) c.2462G>T (p.Gly821Val) c.3245G>T (p.Gly1082Val) c.*3080G>T (n.*3080G>T) c.3160-264G>T (n.3160-264G>T) n.3614G>T c.3428G>T (p.Gly1143Val) c.3383G>T (p.Gly1128Val) c.3338G>T (p.Gly1113Val) c.3407G>T (p.Gly1136Val) c.3392G>T (p.Gly1131Val) c.3371G>T (p.Gly1124Val) c.3365G>T (p.Gly1122Val) c.3320G>T (p.Gly1107Val) c.3311G>T (p.Gly1104Val) c.3287G>T (p.Gly1096Val) c.3281G>T (p.Gly1094Val) c.3254G>T (p.Gly1085Val) c.3248G>T (p.Gly1083Val) c.3242G>T (p.Gly1081Val) c.3203G>T (p.Gly1068Val) c.3191G>T (p.Gly1064Val) c.3134G>T (p.Gly1045Val) c.3110G>T (p.Gly1037Val) c.3104G>T (p.Gly1035Val) c.3086G>T (p.Gly1029Val) c.3032G>T (p.Gly1011Val) c.3118-264G>T (n.3118-264G>T) c.2339G>T (p.Gly780Val) c.2252G>T (p.Gly751Val) n.3528G>T | dbSNP gnomAD v4 |
17 | g.39727426G>A | CA499671665 | ERBB2 | c.3291G>A (p.Gly1097=) c.3201G>A (p.Gly1067=) c.2463G>A (p.Gly821=) c.3246G>A (p.Gly1082=) c.*3081G>A (n.*3081G>A) c.3160-263G>A (n.3160-263G>A) n.3615G>A c.3429G>A (p.Gly1143=) c.3384G>A (p.Gly1128=) c.3339G>A (p.Gly1113=) c.3408G>A (p.Gly1136=) c.3393G>A (p.Gly1131=) c.3372G>A (p.Gly1124=) c.3366G>A (p.Gly1122=) c.3321G>A (p.Gly1107=) c.3312G>A (p.Gly1104=) c.3288G>A (p.Gly1096=) c.3282G>A (p.Gly1094=) c.3255G>A (p.Gly1085=) c.3249G>A (p.Gly1083=) c.3243G>A (p.Gly1081=) c.3204G>A (p.Gly1068=) c.3192G>A (p.Gly1064=) c.3135G>A (p.Gly1045=) c.3111G>A (p.Gly1037=) c.3105G>A (p.Gly1035=) c.3087G>A (p.Gly1029=) c.3033G>A (p.Gly1011=) c.3118-263G>A (n.3118-263G>A) c.2340G>A (p.Gly780=) c.2253G>A (p.Gly751=) n.3529G>A | dbSNP |
17 | g.39727426G>C | CA499671666 | ERBB2 | c.3291G>C (p.Gly1097=) c.3201G>C (p.Gly1067=) c.2463G>C (p.Gly821=) c.3246G>C (p.Gly1082=) c.*3081G>C (n.*3081G>C) c.3160-263G>C (n.3160-263G>C) n.3615G>C c.3429G>C (p.Gly1143=) c.3384G>C (p.Gly1128=) c.3339G>C (p.Gly1113=) c.3408G>C (p.Gly1136=) c.3393G>C (p.Gly1131=) c.3372G>C (p.Gly1124=) c.3366G>C (p.Gly1122=) c.3321G>C (p.Gly1107=) c.3312G>C (p.Gly1104=) c.3288G>C (p.Gly1096=) c.3282G>C (p.Gly1094=) c.3255G>C (p.Gly1085=) c.3249G>C (p.Gly1083=) c.3243G>C (p.Gly1081=) c.3204G>C (p.Gly1068=) c.3192G>C (p.Gly1064=) c.3135G>C (p.Gly1045=) c.3111G>C (p.Gly1037=) c.3105G>C (p.Gly1035=) c.3087G>C (p.Gly1029=) c.3033G>C (p.Gly1011=) c.3118-263G>C (n.3118-263G>C) c.2340G>C (p.Gly780=) c.2253G>C (p.Gly751=) n.3529G>C | dbSNP |
17 | g.39727426G= | CA2259228796 | ERBB2 | c.3291G= (p.Gly1097=) c.3201G= (p.Gly1067=) c.2463G= (p.Gly821=) c.3246G= (p.Gly1082=) c.*3081G= (n.*3081G=) c.3160-263G= (n.3160-263G=) n.3615G= c.3429G= (p.Gly1143=) c.3384G= (p.Gly1128=) c.3339G= (p.Gly1113=) c.3408G= (p.Gly1136=) c.3393G= (p.Gly1131=) c.3372G= (p.Gly1124=) c.3366G= (p.Gly1122=) c.3321G= (p.Gly1107=) c.3312G= (p.Gly1104=) c.3288G= (p.Gly1096=) c.3282G= (p.Gly1094=) c.3255G= (p.Gly1085=) c.3249G= (p.Gly1083=) c.3243G= (p.Gly1081=) c.3204G= (p.Gly1068=) c.3192G= (p.Gly1064=) c.3135G= (p.Gly1045=) c.3111G= (p.Gly1037=) c.3105G= (p.Gly1035=) c.3087G= (p.Gly1029=) c.3033G= (p.Gly1011=) c.3118-263G= (n.3118-263G=) c.2340G= (p.Gly780=) c.2253G= (p.Gly751=) n.3529G= | |
17 | g.39727426G>T | CA499671667 | ERBB2 | c.3291G>T (p.Gly1097=) c.3201G>T (p.Gly1067=) c.2463G>T (p.Gly821=) c.3246G>T (p.Gly1082=) c.*3081G>T (n.*3081G>T) c.3160-263G>T (n.3160-263G>T) n.3615G>T c.3429G>T (p.Gly1143=) c.3384G>T (p.Gly1128=) c.3339G>T (p.Gly1113=) c.3408G>T (p.Gly1136=) c.3393G>T (p.Gly1131=) c.3372G>T (p.Gly1124=) c.3366G>T (p.Gly1122=) c.3321G>T (p.Gly1107=) c.3312G>T (p.Gly1104=) c.3288G>T (p.Gly1096=) c.3282G>T (p.Gly1094=) c.3255G>T (p.Gly1085=) c.3249G>T (p.Gly1083=) c.3243G>T (p.Gly1081=) c.3204G>T (p.Gly1068=) c.3192G>T (p.Gly1064=) c.3135G>T (p.Gly1045=) c.3111G>T (p.Gly1037=) c.3105G>T (p.Gly1035=) c.3087G>T (p.Gly1029=) c.3033G>T (p.Gly1011=) c.3118-263G>T (n.3118-263G>T) c.2340G>T (p.Gly780=) c.2253G>T (p.Gly751=) n.3529G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727427C>A | CA399310765 | ERBB2 | c.3292C>A (p.Leu1098Met) c.3202C>A (p.Leu1068Met) c.2464C>A (p.Leu822Met) c.3247C>A (p.Leu1083Met) c.*3082C>A (n.*3082C>A) c.3160-262C>A (n.3160-262C>A) n.3616C>A c.3430C>A (p.Leu1144Met) c.3385C>A (p.Leu1129Met) c.3340C>A (p.Leu1114Met) c.3409C>A (p.Leu1137Met) c.3394C>A (p.Leu1132Met) c.3373C>A (p.Leu1125Met) c.3367C>A (p.Leu1123Met) c.3322C>A (p.Leu1108Met) c.3313C>A (p.Leu1105Met) c.3289C>A (p.Leu1097Met) c.3283C>A (p.Leu1095Met) c.3256C>A (p.Leu1086Met) c.3250C>A (p.Leu1084Met) c.3244C>A (p.Leu1082Met) c.3205C>A (p.Leu1069Met) c.3193C>A (p.Leu1065Met) c.3136C>A (p.Leu1046Met) c.3112C>A (p.Leu1038Met) c.3106C>A (p.Leu1036Met) c.3088C>A (p.Leu1030Met) c.3034C>A (p.Leu1012Met) c.3118-262C>A (n.3118-262C>A) c.2341C>A (p.Leu781Met) c.2254C>A (p.Leu752Met) n.3530C>A | dbSNP gnomAD v4 |
17 | g.39727427C>G | CA399310766 | ERBB2 | c.3292C>G (p.Leu1098Val) c.3202C>G (p.Leu1068Val) c.2464C>G (p.Leu822Val) c.3247C>G (p.Leu1083Val) c.*3082C>G (n.*3082C>G) c.3160-262C>G (n.3160-262C>G) n.3616C>G c.3430C>G (p.Leu1144Val) c.3385C>G (p.Leu1129Val) c.3340C>G (p.Leu1114Val) c.3409C>G (p.Leu1137Val) c.3394C>G (p.Leu1132Val) c.3373C>G (p.Leu1125Val) c.3367C>G (p.Leu1123Val) c.3322C>G (p.Leu1108Val) c.3313C>G (p.Leu1105Val) c.3289C>G (p.Leu1097Val) c.3283C>G (p.Leu1095Val) c.3256C>G (p.Leu1086Val) c.3250C>G (p.Leu1084Val) c.3244C>G (p.Leu1082Val) c.3205C>G (p.Leu1069Val) c.3193C>G (p.Leu1065Val) c.3136C>G (p.Leu1046Val) c.3112C>G (p.Leu1038Val) c.3106C>G (p.Leu1036Val) c.3088C>G (p.Leu1030Val) c.3034C>G (p.Leu1012Val) c.3118-262C>G (n.3118-262C>G) c.2341C>G (p.Leu781Val) c.2254C>G (p.Leu752Val) n.3530C>G | dbSNP |
17 | g.39727427C>T | CA499671668 | ERBB2 | c.3292C>T (p.Leu1098=) c.3202C>T (p.Leu1068=) c.2464C>T (p.Leu822=) c.3247C>T (p.Leu1083=) c.*3082C>T (n.*3082C>T) c.3160-262C>T (n.3160-262C>T) n.3616C>T c.3430C>T (p.Leu1144=) c.3385C>T (p.Leu1129=) c.3340C>T (p.Leu1114=) c.3409C>T (p.Leu1137=) c.3394C>T (p.Leu1132=) c.3373C>T (p.Leu1125=) c.3367C>T (p.Leu1123=) c.3322C>T (p.Leu1108=) c.3313C>T (p.Leu1105=) c.3289C>T (p.Leu1097=) c.3283C>T (p.Leu1095=) c.3256C>T (p.Leu1086=) c.3250C>T (p.Leu1084=) c.3244C>T (p.Leu1082=) c.3205C>T (p.Leu1069=) c.3193C>T (p.Leu1065=) c.3136C>T (p.Leu1046=) c.3112C>T (p.Leu1038=) c.3106C>T (p.Leu1036=) c.3088C>T (p.Leu1030=) c.3034C>T (p.Leu1012=) c.3118-262C>T (n.3118-262C>T) c.2341C>T (p.Leu781=) c.2254C>T (p.Leu752=) n.3530C>T | dbSNP |
17 | g.39727428T>A | CA399310768 | ERBB2 | c.3293T>A (p.Leu1098Gln) c.3203T>A (p.Leu1068Gln) c.2465T>A (p.Leu822Gln) c.3248T>A (p.Leu1083Gln) c.*3083T>A (n.*3083T>A) c.3160-261T>A (n.3160-261T>A) n.3617T>A c.3431T>A (p.Leu1144Gln) c.3386T>A (p.Leu1129Gln) c.3341T>A (p.Leu1114Gln) c.3410T>A (p.Leu1137Gln) c.3395T>A (p.Leu1132Gln) c.3374T>A (p.Leu1125Gln) c.3368T>A (p.Leu1123Gln) c.3323T>A (p.Leu1108Gln) c.3314T>A (p.Leu1105Gln) c.3290T>A (p.Leu1097Gln) c.3284T>A (p.Leu1095Gln) c.3257T>A (p.Leu1086Gln) c.3251T>A (p.Leu1084Gln) c.3245T>A (p.Leu1082Gln) c.3206T>A (p.Leu1069Gln) c.3194T>A (p.Leu1065Gln) c.3137T>A (p.Leu1046Gln) c.3113T>A (p.Leu1038Gln) c.3107T>A (p.Leu1036Gln) c.3089T>A (p.Leu1030Gln) c.3035T>A (p.Leu1012Gln) c.3118-261T>A (n.3118-261T>A) c.2342T>A (p.Leu781Gln) c.2255T>A (p.Leu752Gln) n.3531T>A | dbSNP |
17 | g.39727428T>C | CA399310772 | ERBB2 | c.3293T>C (p.Leu1098Pro) c.3203T>C (p.Leu1068Pro) c.2465T>C (p.Leu822Pro) c.3248T>C (p.Leu1083Pro) c.*3083T>C (n.*3083T>C) c.3160-261T>C (n.3160-261T>C) n.3617T>C c.3431T>C (p.Leu1144Pro) c.3386T>C (p.Leu1129Pro) c.3341T>C (p.Leu1114Pro) c.3410T>C (p.Leu1137Pro) c.3395T>C (p.Leu1132Pro) c.3374T>C (p.Leu1125Pro) c.3368T>C (p.Leu1123Pro) c.3323T>C (p.Leu1108Pro) c.3314T>C (p.Leu1105Pro) c.3290T>C (p.Leu1097Pro) c.3284T>C (p.Leu1095Pro) c.3257T>C (p.Leu1086Pro) c.3251T>C (p.Leu1084Pro) c.3245T>C (p.Leu1082Pro) c.3206T>C (p.Leu1069Pro) c.3194T>C (p.Leu1065Pro) c.3137T>C (p.Leu1046Pro) c.3113T>C (p.Leu1038Pro) c.3107T>C (p.Leu1036Pro) c.3089T>C (p.Leu1030Pro) c.3035T>C (p.Leu1012Pro) c.3118-261T>C (n.3118-261T>C) c.2342T>C (p.Leu781Pro) c.2255T>C (p.Leu752Pro) n.3531T>C | dbSNP |
17 | g.39727428T>G | CA399310785 | ERBB2 | c.3293T>G (p.Leu1098Arg) c.3203T>G (p.Leu1068Arg) c.2465T>G (p.Leu822Arg) c.3248T>G (p.Leu1083Arg) c.*3083T>G (n.*3083T>G) c.3160-261T>G (n.3160-261T>G) n.3617T>G c.3431T>G (p.Leu1144Arg) c.3386T>G (p.Leu1129Arg) c.3341T>G (p.Leu1114Arg) c.3410T>G (p.Leu1137Arg) c.3395T>G (p.Leu1132Arg) c.3374T>G (p.Leu1125Arg) c.3368T>G (p.Leu1123Arg) c.3323T>G (p.Leu1108Arg) c.3314T>G (p.Leu1105Arg) c.3290T>G (p.Leu1097Arg) c.3284T>G (p.Leu1095Arg) c.3257T>G (p.Leu1086Arg) c.3251T>G (p.Leu1084Arg) c.3245T>G (p.Leu1082Arg) c.3206T>G (p.Leu1069Arg) c.3194T>G (p.Leu1065Arg) c.3137T>G (p.Leu1046Arg) c.3113T>G (p.Leu1038Arg) c.3107T>G (p.Leu1036Arg) c.3089T>G (p.Leu1030Arg) c.3035T>G (p.Leu1012Arg) c.3118-261T>G (n.3118-261T>G) c.2342T>G (p.Leu781Arg) c.2255T>G (p.Leu752Arg) n.3531T>G | dbSNP |
17 | g.39727429G>A | CA8534519 | ERBB2 | c.3294G>A (p.Leu1098=) c.3204G>A (p.Leu1068=) c.2466G>A (p.Leu822=) c.3249G>A (p.Leu1083=) c.*3084G>A (n.*3084G>A) c.3160-260G>A (n.3160-260G>A) n.3618G>A c.3432G>A (p.Leu1144=) c.3387G>A (p.Leu1129=) c.3342G>A (p.Leu1114=) c.3411G>A (p.Leu1137=) c.3396G>A (p.Leu1132=) c.3375G>A (p.Leu1125=) c.3369G>A (p.Leu1123=) c.3324G>A (p.Leu1108=) c.3315G>A (p.Leu1105=) c.3291G>A (p.Leu1097=) c.3285G>A (p.Leu1095=) c.3258G>A (p.Leu1086=) c.3252G>A (p.Leu1084=) c.3246G>A (p.Leu1082=) c.3207G>A (p.Leu1069=) c.3195G>A (p.Leu1065=) c.3138G>A (p.Leu1046=) c.3114G>A (p.Leu1038=) c.3108G>A (p.Leu1036=) c.3090G>A (p.Leu1030=) c.3036G>A (p.Leu1012=) c.3118-260G>A (n.3118-260G>A) c.2343G>A (p.Leu781=) c.2256G>A (p.Leu752=) n.3532G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727429G>C | CA499671669 | ERBB2 | c.3294G>C (p.Leu1098=) c.3204G>C (p.Leu1068=) c.2466G>C (p.Leu822=) c.3249G>C (p.Leu1083=) c.*3084G>C (n.*3084G>C) c.3160-260G>C (n.3160-260G>C) n.3618G>C c.3432G>C (p.Leu1144=) c.3387G>C (p.Leu1129=) c.3342G>C (p.Leu1114=) c.3411G>C (p.Leu1137=) c.3396G>C (p.Leu1132=) c.3375G>C (p.Leu1125=) c.3369G>C (p.Leu1123=) c.3324G>C (p.Leu1108=) c.3315G>C (p.Leu1105=) c.3291G>C (p.Leu1097=) c.3285G>C (p.Leu1095=) c.3258G>C (p.Leu1086=) c.3252G>C (p.Leu1084=) c.3246G>C (p.Leu1082=) c.3207G>C (p.Leu1069=) c.3195G>C (p.Leu1065=) c.3138G>C (p.Leu1046=) c.3114G>C (p.Leu1038=) c.3108G>C (p.Leu1036=) c.3090G>C (p.Leu1030=) c.3036G>C (p.Leu1012=) c.3118-260G>C (n.3118-260G>C) c.2343G>C (p.Leu781=) c.2256G>C (p.Leu752=) n.3532G>C | dbSNP |
17 | g.39727429G= | CA2259228797 | ERBB2 | c.3294G= (p.Leu1098=) c.3204G= (p.Leu1068=) c.2466G= (p.Leu822=) c.3249G= (p.Leu1083=) c.*3084G= (n.*3084G=) c.3160-260G= (n.3160-260G=) n.3618G= c.3432G= (p.Leu1144=) c.3387G= (p.Leu1129=) c.3342G= (p.Leu1114=) c.3411G= (p.Leu1137=) c.3396G= (p.Leu1132=) c.3375G= (p.Leu1125=) c.3369G= (p.Leu1123=) c.3324G= (p.Leu1108=) c.3315G= (p.Leu1105=) c.3291G= (p.Leu1097=) c.3285G= (p.Leu1095=) c.3258G= (p.Leu1086=) c.3252G= (p.Leu1084=) c.3246G= (p.Leu1082=) c.3207G= (p.Leu1069=) c.3195G= (p.Leu1065=) c.3138G= (p.Leu1046=) c.3114G= (p.Leu1038=) c.3108G= (p.Leu1036=) c.3090G= (p.Leu1030=) c.3036G= (p.Leu1012=) c.3118-260G= (n.3118-260G=) c.2343G= (p.Leu781=) c.2256G= (p.Leu752=) n.3532G= | |
17 | g.39727429G>T | CA499671670 | ERBB2 | c.3294G>T (p.Leu1098=) c.3204G>T (p.Leu1068=) c.2466G>T (p.Leu822=) c.3249G>T (p.Leu1083=) c.*3084G>T (n.*3084G>T) c.3160-260G>T (n.3160-260G>T) n.3618G>T c.3432G>T (p.Leu1144=) c.3387G>T (p.Leu1129=) c.3342G>T (p.Leu1114=) c.3411G>T (p.Leu1137=) c.3396G>T (p.Leu1132=) c.3375G>T (p.Leu1125=) c.3369G>T (p.Leu1123=) c.3324G>T (p.Leu1108=) c.3315G>T (p.Leu1105=) c.3291G>T (p.Leu1097=) c.3285G>T (p.Leu1095=) c.3258G>T (p.Leu1086=) c.3252G>T (p.Leu1084=) c.3246G>T (p.Leu1082=) c.3207G>T (p.Leu1069=) c.3195G>T (p.Leu1065=) c.3138G>T (p.Leu1046=) c.3114G>T (p.Leu1038=) c.3108G>T (p.Leu1036=) c.3090G>T (p.Leu1030=) c.3036G>T (p.Leu1012=) c.3118-260G>T (n.3118-260G>T) c.2343G>T (p.Leu781=) c.2256G>T (p.Leu752=) n.3532G>T | dbSNP |
17 | g.39727430C>A | CA399310804 | ERBB2 | c.3295C>A (p.Gln1099Lys) c.3205C>A (p.Gln1069Lys) c.2467C>A (p.Gln823Lys) c.3250C>A (p.Gln1084Lys) c.*3085C>A (n.*3085C>A) c.3160-259C>A (n.3160-259C>A) n.3619C>A c.3433C>A (p.Gln1145Lys) c.3388C>A (p.Gln1130Lys) c.3343C>A (p.Gln1115Lys) c.3412C>A (p.Gln1138Lys) c.3397C>A (p.Gln1133Lys) c.3376C>A (p.Gln1126Lys) c.3370C>A (p.Gln1124Lys) c.3325C>A (p.Gln1109Lys) c.3316C>A (p.Gln1106Lys) c.3292C>A (p.Gln1098Lys) c.3286C>A (p.Gln1096Lys) c.3259C>A (p.Gln1087Lys) c.3253C>A (p.Gln1085Lys) c.3247C>A (p.Gln1083Lys) c.3208C>A (p.Gln1070Lys) c.3196C>A (p.Gln1066Lys) c.3139C>A (p.Gln1047Lys) c.3115C>A (p.Gln1039Lys) c.3109C>A (p.Gln1037Lys) c.3091C>A (p.Gln1031Lys) c.3037C>A (p.Gln1013Lys) c.3118-259C>A (n.3118-259C>A) c.2344C>A (p.Gln782Lys) c.2257C>A (p.Gln753Lys) n.3533C>A | |
17 | g.39727430C>G | CA399310797 | ERBB2 | c.3295C>G (p.Gln1099Glu) c.3205C>G (p.Gln1069Glu) c.2467C>G (p.Gln823Glu) c.3250C>G (p.Gln1084Glu) c.*3085C>G (n.*3085C>G) c.3160-259C>G (n.3160-259C>G) n.3619C>G c.3433C>G (p.Gln1145Glu) c.3388C>G (p.Gln1130Glu) c.3343C>G (p.Gln1115Glu) c.3412C>G (p.Gln1138Glu) c.3397C>G (p.Gln1133Glu) c.3376C>G (p.Gln1126Glu) c.3370C>G (p.Gln1124Glu) c.3325C>G (p.Gln1109Glu) c.3316C>G (p.Gln1106Glu) c.3292C>G (p.Gln1098Glu) c.3286C>G (p.Gln1096Glu) c.3259C>G (p.Gln1087Glu) c.3253C>G (p.Gln1085Glu) c.3247C>G (p.Gln1083Glu) c.3208C>G (p.Gln1070Glu) c.3196C>G (p.Gln1066Glu) c.3139C>G (p.Gln1047Glu) c.3115C>G (p.Gln1039Glu) c.3109C>G (p.Gln1037Glu) c.3091C>G (p.Gln1031Glu) c.3037C>G (p.Gln1013Glu) c.3118-259C>G (n.3118-259C>G) c.2344C>G (p.Gln782Glu) c.2257C>G (p.Gln753Glu) n.3533C>G | dbSNP |
17 | g.39727430C>T | CA399310800 | ERBB2 | c.3295C>T (p.Gln1099Ter) c.3205C>T (p.Gln1069Ter) c.2467C>T (p.Gln823Ter) c.3250C>T (p.Gln1084Ter) c.*3085C>T (n.*3085C>T) c.3160-259C>T (n.3160-259C>T) n.3619C>T c.3433C>T (p.Gln1145Ter) c.3388C>T (p.Gln1130Ter) c.3343C>T (p.Gln1115Ter) c.3412C>T (p.Gln1138Ter) c.3397C>T (p.Gln1133Ter) c.3376C>T (p.Gln1126Ter) c.3370C>T (p.Gln1124Ter) c.3325C>T (p.Gln1109Ter) c.3316C>T (p.Gln1106Ter) c.3292C>T (p.Gln1098Ter) c.3286C>T (p.Gln1096Ter) c.3259C>T (p.Gln1087Ter) c.3253C>T (p.Gln1085Ter) c.3247C>T (p.Gln1083Ter) c.3208C>T (p.Gln1070Ter) c.3196C>T (p.Gln1066Ter) c.3139C>T (p.Gln1047Ter) c.3115C>T (p.Gln1039Ter) c.3109C>T (p.Gln1037Ter) c.3091C>T (p.Gln1031Ter) c.3037C>T (p.Gln1013Ter) c.3118-259C>T (n.3118-259C>T) c.2344C>T (p.Gln782Ter) c.2257C>T (p.Gln753Ter) n.3533C>T | dbSNP |
17 | g.39727431A>C | CA399310811 | ERBB2 | c.3296A>C (p.Gln1099Pro) c.3206A>C (p.Gln1069Pro) c.2468A>C (p.Gln823Pro) c.3251A>C (p.Gln1084Pro) c.*3086A>C (n.*3086A>C) c.3160-258A>C (n.3160-258A>C) n.3620A>C c.3434A>C (p.Gln1145Pro) c.3389A>C (p.Gln1130Pro) c.3344A>C (p.Gln1115Pro) c.3413A>C (p.Gln1138Pro) c.3398A>C (p.Gln1133Pro) c.3377A>C (p.Gln1126Pro) c.3371A>C (p.Gln1124Pro) c.3326A>C (p.Gln1109Pro) c.3317A>C (p.Gln1106Pro) c.3293A>C (p.Gln1098Pro) c.3287A>C (p.Gln1096Pro) c.3260A>C (p.Gln1087Pro) c.3254A>C (p.Gln1085Pro) c.3248A>C (p.Gln1083Pro) c.3209A>C (p.Gln1070Pro) c.3197A>C (p.Gln1066Pro) c.3140A>C (p.Gln1047Pro) c.3116A>C (p.Gln1039Pro) c.3110A>C (p.Gln1037Pro) c.3092A>C (p.Gln1031Pro) c.3038A>C (p.Gln1013Pro) c.3118-258A>C (n.3118-258A>C) c.2345A>C (p.Gln782Pro) c.2258A>C (p.Gln753Pro) n.3534A>C | dbSNP |
17 | g.39727431A>G | CA399310814 | ERBB2 | c.3296A>G (p.Gln1099Arg) c.3206A>G (p.Gln1069Arg) c.2468A>G (p.Gln823Arg) c.3251A>G (p.Gln1084Arg) c.*3086A>G (n.*3086A>G) c.3160-258A>G (n.3160-258A>G) n.3620A>G c.3434A>G (p.Gln1145Arg) c.3389A>G (p.Gln1130Arg) c.3344A>G (p.Gln1115Arg) c.3413A>G (p.Gln1138Arg) c.3398A>G (p.Gln1133Arg) c.3377A>G (p.Gln1126Arg) c.3371A>G (p.Gln1124Arg) c.3326A>G (p.Gln1109Arg) c.3317A>G (p.Gln1106Arg) c.3293A>G (p.Gln1098Arg) c.3287A>G (p.Gln1096Arg) c.3260A>G (p.Gln1087Arg) c.3254A>G (p.Gln1085Arg) c.3248A>G (p.Gln1083Arg) c.3209A>G (p.Gln1070Arg) c.3197A>G (p.Gln1066Arg) c.3140A>G (p.Gln1047Arg) c.3116A>G (p.Gln1039Arg) c.3110A>G (p.Gln1037Arg) c.3092A>G (p.Gln1031Arg) c.3038A>G (p.Gln1013Arg) c.3118-258A>G (n.3118-258A>G) c.2345A>G (p.Gln782Arg) c.2258A>G (p.Gln753Arg) n.3534A>G | ClinVar dbSNP |
17 | g.39727431A>T | CA399310818 | ERBB2 | c.3296A>T (p.Gln1099Leu) c.3206A>T (p.Gln1069Leu) c.2468A>T (p.Gln823Leu) c.3251A>T (p.Gln1084Leu) c.*3086A>T (n.*3086A>T) c.3160-258A>T (n.3160-258A>T) n.3620A>T c.3434A>T (p.Gln1145Leu) c.3389A>T (p.Gln1130Leu) c.3344A>T (p.Gln1115Leu) c.3413A>T (p.Gln1138Leu) c.3398A>T (p.Gln1133Leu) c.3377A>T (p.Gln1126Leu) c.3371A>T (p.Gln1124Leu) c.3326A>T (p.Gln1109Leu) c.3317A>T (p.Gln1106Leu) c.3293A>T (p.Gln1098Leu) c.3287A>T (p.Gln1096Leu) c.3260A>T (p.Gln1087Leu) c.3254A>T (p.Gln1085Leu) c.3248A>T (p.Gln1083Leu) c.3209A>T (p.Gln1070Leu) c.3197A>T (p.Gln1066Leu) c.3140A>T (p.Gln1047Leu) c.3116A>T (p.Gln1039Leu) c.3110A>T (p.Gln1037Leu) c.3092A>T (p.Gln1031Leu) c.3038A>T (p.Gln1013Leu) c.3118-258A>T (n.3118-258A>T) c.2345A>T (p.Gln782Leu) c.2258A>T (p.Gln753Leu) n.3534A>T | dbSNP |
17 | g.39727432A= | CA2259228799 | ERBB2 | c.3297A= (p.Gln1099=) c.3207A= (p.Gln1069=) c.2469A= (p.Gln823=) c.3252A= (p.Gln1084=) c.*3087A= (n.*3087A=) c.3160-257A= (n.3160-257A=) n.3621A= c.3435A= (p.Gln1145=) c.3390A= (p.Gln1130=) c.3345A= (p.Gln1115=) c.3414A= (p.Gln1138=) c.3399A= (p.Gln1133=) c.3378A= (p.Gln1126=) c.3372A= (p.Gln1124=) c.3327A= (p.Gln1109=) c.3318A= (p.Gln1106=) c.3294A= (p.Gln1098=) c.3288A= (p.Gln1096=) c.3261A= (p.Gln1087=) c.3255A= (p.Gln1085=) c.3249A= (p.Gln1083=) c.3210A= (p.Gln1070=) c.3198A= (p.Gln1066=) c.3141A= (p.Gln1047=) c.3117A= (p.Gln1039=) c.3111A= (p.Gln1037=) c.3093A= (p.Gln1031=) c.3039A= (p.Gln1013=) c.3118-257A= (n.3118-257A=) c.2346A= (p.Gln782=) c.2259A= (p.Gln753=) n.3535A= | |
17 | g.39727432A>C | CA399310830 | ERBB2 | c.3297A>C (p.Gln1099His) c.3207A>C (p.Gln1069His) c.2469A>C (p.Gln823His) c.3252A>C (p.Gln1084His) c.*3087A>C (n.*3087A>C) c.3160-257A>C (n.3160-257A>C) n.3621A>C c.3435A>C (p.Gln1145His) c.3390A>C (p.Gln1130His) c.3345A>C (p.Gln1115His) c.3414A>C (p.Gln1138His) c.3399A>C (p.Gln1133His) c.3378A>C (p.Gln1126His) c.3372A>C (p.Gln1124His) c.3327A>C (p.Gln1109His) c.3318A>C (p.Gln1106His) c.3294A>C (p.Gln1098His) c.3288A>C (p.Gln1096His) c.3261A>C (p.Gln1087His) c.3255A>C (p.Gln1085His) c.3249A>C (p.Gln1083His) c.3210A>C (p.Gln1070His) c.3198A>C (p.Gln1066His) c.3141A>C (p.Gln1047His) c.3117A>C (p.Gln1039His) c.3111A>C (p.Gln1037His) c.3093A>C (p.Gln1031His) c.3039A>C (p.Gln1013His) c.3118-257A>C (n.3118-257A>C) c.2346A>C (p.Gln782His) c.2259A>C (p.Gln753His) n.3535A>C | dbSNP |
17 | g.39727432A>G | CA499671671 | ERBB2 | c.3297A>G (p.Gln1099=) c.3207A>G (p.Gln1069=) c.2469A>G (p.Gln823=) c.3252A>G (p.Gln1084=) c.*3087A>G (n.*3087A>G) c.3160-257A>G (n.3160-257A>G) n.3621A>G c.3435A>G (p.Gln1145=) c.3390A>G (p.Gln1130=) c.3345A>G (p.Gln1115=) c.3414A>G (p.Gln1138=) c.3399A>G (p.Gln1133=) c.3378A>G (p.Gln1126=) c.3372A>G (p.Gln1124=) c.3327A>G (p.Gln1109=) c.3318A>G (p.Gln1106=) c.3294A>G (p.Gln1098=) c.3288A>G (p.Gln1096=) c.3261A>G (p.Gln1087=) c.3255A>G (p.Gln1085=) c.3249A>G (p.Gln1083=) c.3210A>G (p.Gln1070=) c.3198A>G (p.Gln1066=) c.3141A>G (p.Gln1047=) c.3117A>G (p.Gln1039=) c.3111A>G (p.Gln1037=) c.3093A>G (p.Gln1031=) c.3039A>G (p.Gln1013=) c.3118-257A>G (n.3118-257A>G) c.2346A>G (p.Gln782=) c.2259A>G (p.Gln753=) n.3535A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727432A>T | CA399310835 | ERBB2 | c.3297A>T (p.Gln1099His) c.3207A>T (p.Gln1069His) c.2469A>T (p.Gln823His) c.3252A>T (p.Gln1084His) c.*3087A>T (n.*3087A>T) c.3160-257A>T (n.3160-257A>T) n.3621A>T c.3435A>T (p.Gln1145His) c.3390A>T (p.Gln1130His) c.3345A>T (p.Gln1115His) c.3414A>T (p.Gln1138His) c.3399A>T (p.Gln1133His) c.3378A>T (p.Gln1126His) c.3372A>T (p.Gln1124His) c.3327A>T (p.Gln1109His) c.3318A>T (p.Gln1106His) c.3294A>T (p.Gln1098His) c.3288A>T (p.Gln1096His) c.3261A>T (p.Gln1087His) c.3255A>T (p.Gln1085His) c.3249A>T (p.Gln1083His) c.3210A>T (p.Gln1070His) c.3198A>T (p.Gln1066His) c.3141A>T (p.Gln1047His) c.3117A>T (p.Gln1039His) c.3111A>T (p.Gln1037His) c.3093A>T (p.Gln1031His) c.3039A>T (p.Gln1013His) c.3118-257A>T (n.3118-257A>T) c.2346A>T (p.Gln782His) c.2259A>T (p.Gln753His) n.3535A>T | dbSNP |
17 | g.39727433A>C | CA399310839 | ERBB2 | c.3298A>C (p.Ser1100Arg) c.3208A>C (p.Ser1070Arg) c.2470A>C (p.Ser824Arg) c.3253A>C (p.Ser1085Arg) c.*3088A>C (n.*3088A>C) c.3160-256A>C (n.3160-256A>C) n.3622A>C c.3436A>C (p.Ser1146Arg) c.3391A>C (p.Ser1131Arg) c.3346A>C (p.Ser1116Arg) c.3415A>C (p.Ser1139Arg) c.3400A>C (p.Ser1134Arg) c.3379A>C (p.Ser1127Arg) c.3373A>C (p.Ser1125Arg) c.3328A>C (p.Ser1110Arg) c.3319A>C (p.Ser1107Arg) c.3295A>C (p.Ser1099Arg) c.3289A>C (p.Ser1097Arg) c.3262A>C (p.Ser1088Arg) c.3256A>C (p.Ser1086Arg) c.3250A>C (p.Ser1084Arg) c.3211A>C (p.Ser1071Arg) c.3199A>C (p.Ser1067Arg) c.3142A>C (p.Ser1048Arg) c.3118A>C (p.Ser1040Arg) c.3112A>C (p.Ser1038Arg) c.3094A>C (p.Ser1032Arg) c.3040A>C (p.Ser1014Arg) c.3118-256A>C (n.3118-256A>C) c.2347A>C (p.Ser783Arg) c.2260A>C (p.Ser754Arg) n.3536A>C | dbSNP |
17 | g.39727433A>G | CA399310845 | ERBB2 | c.3298A>G (p.Ser1100Gly) c.3208A>G (p.Ser1070Gly) c.2470A>G (p.Ser824Gly) c.3253A>G (p.Ser1085Gly) c.*3088A>G (n.*3088A>G) c.3160-256A>G (n.3160-256A>G) n.3622A>G c.3436A>G (p.Ser1146Gly) c.3391A>G (p.Ser1131Gly) c.3346A>G (p.Ser1116Gly) c.3415A>G (p.Ser1139Gly) c.3400A>G (p.Ser1134Gly) c.3379A>G (p.Ser1127Gly) c.3373A>G (p.Ser1125Gly) c.3328A>G (p.Ser1110Gly) c.3319A>G (p.Ser1107Gly) c.3295A>G (p.Ser1099Gly) c.3289A>G (p.Ser1097Gly) c.3262A>G (p.Ser1088Gly) c.3256A>G (p.Ser1086Gly) c.3250A>G (p.Ser1084Gly) c.3211A>G (p.Ser1071Gly) c.3199A>G (p.Ser1067Gly) c.3142A>G (p.Ser1048Gly) c.3118A>G (p.Ser1040Gly) c.3112A>G (p.Ser1038Gly) c.3094A>G (p.Ser1032Gly) c.3040A>G (p.Ser1014Gly) c.3118-256A>G (n.3118-256A>G) c.2347A>G (p.Ser783Gly) c.2260A>G (p.Ser754Gly) n.3536A>G | dbSNP |
17 | g.39727433A>T | CA399310841 | ERBB2 | c.3298A>T (p.Ser1100Cys) c.3208A>T (p.Ser1070Cys) c.2470A>T (p.Ser824Cys) c.3253A>T (p.Ser1085Cys) c.*3088A>T (n.*3088A>T) c.3160-256A>T (n.3160-256A>T) n.3622A>T c.3436A>T (p.Ser1146Cys) c.3391A>T (p.Ser1131Cys) c.3346A>T (p.Ser1116Cys) c.3415A>T (p.Ser1139Cys) c.3400A>T (p.Ser1134Cys) c.3379A>T (p.Ser1127Cys) c.3373A>T (p.Ser1125Cys) c.3328A>T (p.Ser1110Cys) c.3319A>T (p.Ser1107Cys) c.3295A>T (p.Ser1099Cys) c.3289A>T (p.Ser1097Cys) c.3262A>T (p.Ser1088Cys) c.3256A>T (p.Ser1086Cys) c.3250A>T (p.Ser1084Cys) c.3211A>T (p.Ser1071Cys) c.3199A>T (p.Ser1067Cys) c.3142A>T (p.Ser1048Cys) c.3118A>T (p.Ser1040Cys) c.3112A>T (p.Ser1038Cys) c.3094A>T (p.Ser1032Cys) c.3040A>T (p.Ser1014Cys) c.3118-256A>T (n.3118-256A>T) c.2347A>T (p.Ser783Cys) c.2260A>T (p.Ser754Cys) n.3536A>T | dbSNP |
17 | g.39727434G>A | CA399310846 | ERBB2 | c.3299G>A (p.Ser1100Asn) c.3209G>A (p.Ser1070Asn) c.2471G>A (p.Ser824Asn) c.3254G>A (p.Ser1085Asn) c.*3089G>A (n.*3089G>A) c.3160-255G>A (n.3160-255G>A) n.3623G>A c.3437G>A (p.Ser1146Asn) c.3392G>A (p.Ser1131Asn) c.3347G>A (p.Ser1116Asn) c.3416G>A (p.Ser1139Asn) c.3401G>A (p.Ser1134Asn) c.3380G>A (p.Ser1127Asn) c.3374G>A (p.Ser1125Asn) c.3329G>A (p.Ser1110Asn) c.3320G>A (p.Ser1107Asn) c.3296G>A (p.Ser1099Asn) c.3290G>A (p.Ser1097Asn) c.3263G>A (p.Ser1088Asn) c.3257G>A (p.Ser1086Asn) c.3251G>A (p.Ser1084Asn) c.3212G>A (p.Ser1071Asn) c.3200G>A (p.Ser1067Asn) c.3143G>A (p.Ser1048Asn) c.3119G>A (p.Ser1040Asn) c.3113G>A (p.Ser1038Asn) c.3095G>A (p.Ser1032Asn) c.3041G>A (p.Ser1014Asn) c.3118-255G>A (n.3118-255G>A) c.2348G>A (p.Ser783Asn) c.2261G>A (p.Ser754Asn) n.3537G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727434G>C | CA399310847 | ERBB2 | c.3299G>C (p.Ser1100Thr) c.3209G>C (p.Ser1070Thr) c.2471G>C (p.Ser824Thr) c.3254G>C (p.Ser1085Thr) c.*3089G>C (n.*3089G>C) c.3160-255G>C (n.3160-255G>C) n.3623G>C c.3437G>C (p.Ser1146Thr) c.3392G>C (p.Ser1131Thr) c.3347G>C (p.Ser1116Thr) c.3416G>C (p.Ser1139Thr) c.3401G>C (p.Ser1134Thr) c.3380G>C (p.Ser1127Thr) c.3374G>C (p.Ser1125Thr) c.3329G>C (p.Ser1110Thr) c.3320G>C (p.Ser1107Thr) c.3296G>C (p.Ser1099Thr) c.3290G>C (p.Ser1097Thr) c.3263G>C (p.Ser1088Thr) c.3257G>C (p.Ser1086Thr) c.3251G>C (p.Ser1084Thr) c.3212G>C (p.Ser1071Thr) c.3200G>C (p.Ser1067Thr) c.3143G>C (p.Ser1048Thr) c.3119G>C (p.Ser1040Thr) c.3113G>C (p.Ser1038Thr) c.3095G>C (p.Ser1032Thr) c.3041G>C (p.Ser1014Thr) c.3118-255G>C (n.3118-255G>C) c.2348G>C (p.Ser783Thr) c.2261G>C (p.Ser754Thr) n.3537G>C | gnomAD v4 |
17 | g.39727434G= | CA2259228800 | ERBB2 | c.3299G= (p.Ser1100=) c.3209G= (p.Ser1070=) c.2471G= (p.Ser824=) c.3254G= (p.Ser1085=) c.*3089G= (n.*3089G=) c.3160-255G= (n.3160-255G=) n.3623G= c.3437G= (p.Ser1146=) c.3392G= (p.Ser1131=) c.3347G= (p.Ser1116=) c.3416G= (p.Ser1139=) c.3401G= (p.Ser1134=) c.3380G= (p.Ser1127=) c.3374G= (p.Ser1125=) c.3329G= (p.Ser1110=) c.3320G= (p.Ser1107=) c.3296G= (p.Ser1099=) c.3290G= (p.Ser1097=) c.3263G= (p.Ser1088=) c.3257G= (p.Ser1086=) c.3251G= (p.Ser1084=) c.3212G= (p.Ser1071=) c.3200G= (p.Ser1067=) c.3143G= (p.Ser1048=) c.3119G= (p.Ser1040=) c.3113G= (p.Ser1038=) c.3095G= (p.Ser1032=) c.3041G= (p.Ser1014=) c.3118-255G= (n.3118-255G=) c.2348G= (p.Ser783=) c.2261G= (p.Ser754=) n.3537G= | |
17 | g.39727434G>T | CA399310848 | ERBB2 | c.3299G>T (p.Ser1100Ile) c.3209G>T (p.Ser1070Ile) c.2471G>T (p.Ser824Ile) c.3254G>T (p.Ser1085Ile) c.*3089G>T (n.*3089G>T) c.3160-255G>T (n.3160-255G>T) n.3623G>T c.3437G>T (p.Ser1146Ile) c.3392G>T (p.Ser1131Ile) c.3347G>T (p.Ser1116Ile) c.3416G>T (p.Ser1139Ile) c.3401G>T (p.Ser1134Ile) c.3380G>T (p.Ser1127Ile) c.3374G>T (p.Ser1125Ile) c.3329G>T (p.Ser1110Ile) c.3320G>T (p.Ser1107Ile) c.3296G>T (p.Ser1099Ile) c.3290G>T (p.Ser1097Ile) c.3263G>T (p.Ser1088Ile) c.3257G>T (p.Ser1086Ile) c.3251G>T (p.Ser1084Ile) c.3212G>T (p.Ser1071Ile) c.3200G>T (p.Ser1067Ile) c.3143G>T (p.Ser1048Ile) c.3119G>T (p.Ser1040Ile) c.3113G>T (p.Ser1038Ile) c.3095G>T (p.Ser1032Ile) c.3041G>T (p.Ser1014Ile) c.3118-255G>T (n.3118-255G>T) c.2348G>T (p.Ser783Ile) c.2261G>T (p.Ser754Ile) n.3537G>T | |
17 | g.39727435C>A | CA399310852 | ERBB2 | c.3300C>A (p.Ser1100Arg) c.3210C>A (p.Ser1070Arg) c.2472C>A (p.Ser824Arg) c.3255C>A (p.Ser1085Arg) c.*3090C>A (n.*3090C>A) c.3160-254C>A (n.3160-254C>A) n.3624C>A c.3438C>A (p.Ser1146Arg) c.3393C>A (p.Ser1131Arg) c.3348C>A (p.Ser1116Arg) c.3417C>A (p.Ser1139Arg) c.3402C>A (p.Ser1134Arg) c.3381C>A (p.Ser1127Arg) c.3375C>A (p.Ser1125Arg) c.3330C>A (p.Ser1110Arg) c.3321C>A (p.Ser1107Arg) c.3297C>A (p.Ser1099Arg) c.3291C>A (p.Ser1097Arg) c.3264C>A (p.Ser1088Arg) c.3258C>A (p.Ser1086Arg) c.3252C>A (p.Ser1084Arg) c.3213C>A (p.Ser1071Arg) c.3201C>A (p.Ser1067Arg) c.3144C>A (p.Ser1048Arg) c.3120C>A (p.Ser1040Arg) c.3114C>A (p.Ser1038Arg) c.3096C>A (p.Ser1032Arg) c.3042C>A (p.Ser1014Arg) c.3118-254C>A (n.3118-254C>A) c.2349C>A (p.Ser783Arg) c.2262C>A (p.Ser754Arg) n.3538C>A | dbSNP |
17 | g.39727435C>G | CA399310854 | ERBB2 | c.3300C>G (p.Ser1100Arg) c.3210C>G (p.Ser1070Arg) c.2472C>G (p.Ser824Arg) c.3255C>G (p.Ser1085Arg) c.*3090C>G (n.*3090C>G) c.3160-254C>G (n.3160-254C>G) n.3624C>G c.3438C>G (p.Ser1146Arg) c.3393C>G (p.Ser1131Arg) c.3348C>G (p.Ser1116Arg) c.3417C>G (p.Ser1139Arg) c.3402C>G (p.Ser1134Arg) c.3381C>G (p.Ser1127Arg) c.3375C>G (p.Ser1125Arg) c.3330C>G (p.Ser1110Arg) c.3321C>G (p.Ser1107Arg) c.3297C>G (p.Ser1099Arg) c.3291C>G (p.Ser1097Arg) c.3264C>G (p.Ser1088Arg) c.3258C>G (p.Ser1086Arg) c.3252C>G (p.Ser1084Arg) c.3213C>G (p.Ser1071Arg) c.3201C>G (p.Ser1067Arg) c.3144C>G (p.Ser1048Arg) c.3120C>G (p.Ser1040Arg) c.3114C>G (p.Ser1038Arg) c.3096C>G (p.Ser1032Arg) c.3042C>G (p.Ser1014Arg) c.3118-254C>G (n.3118-254C>G) c.2349C>G (p.Ser783Arg) c.2262C>G (p.Ser754Arg) n.3538C>G | dbSNP gnomAD v4 |
17 | g.39727435C>T | CA499671672 | ERBB2 | c.3300C>T (p.Ser1100=) c.3210C>T (p.Ser1070=) c.2472C>T (p.Ser824=) c.3255C>T (p.Ser1085=) c.*3090C>T (n.*3090C>T) c.3160-254C>T (n.3160-254C>T) n.3624C>T c.3438C>T (p.Ser1146=) c.3393C>T (p.Ser1131=) c.3348C>T (p.Ser1116=) c.3417C>T (p.Ser1139=) c.3402C>T (p.Ser1134=) c.3381C>T (p.Ser1127=) c.3375C>T (p.Ser1125=) c.3330C>T (p.Ser1110=) c.3321C>T (p.Ser1107=) c.3297C>T (p.Ser1099=) c.3291C>T (p.Ser1097=) c.3264C>T (p.Ser1088=) c.3258C>T (p.Ser1086=) c.3252C>T (p.Ser1084=) c.3213C>T (p.Ser1071=) c.3201C>T (p.Ser1067=) c.3144C>T (p.Ser1048=) c.3120C>T (p.Ser1040=) c.3114C>T (p.Ser1038=) c.3096C>T (p.Ser1032=) c.3042C>T (p.Ser1014=) c.3118-254C>T (n.3118-254C>T) c.2349C>T (p.Ser783=) c.2262C>T (p.Ser754=) n.3538C>T | dbSNP |
17 | g.39727436C>A | CA399310860 | ERBB2 | c.3301C>A (p.Leu1101Ile) c.3211C>A (p.Leu1071Ile) c.2473C>A (p.Leu825Ile) c.3256C>A (p.Leu1086Ile) c.*3091C>A (n.*3091C>A) c.3160-253C>A (n.3160-253C>A) n.3625C>A c.3439C>A (p.Leu1147Ile) c.3394C>A (p.Leu1132Ile) c.3349C>A (p.Leu1117Ile) c.3418C>A (p.Leu1140Ile) c.3403C>A (p.Leu1135Ile) c.3382C>A (p.Leu1128Ile) c.3376C>A (p.Leu1126Ile) c.3331C>A (p.Leu1111Ile) c.3322C>A (p.Leu1108Ile) c.3298C>A (p.Leu1100Ile) c.3292C>A (p.Leu1098Ile) c.3265C>A (p.Leu1089Ile) c.3259C>A (p.Leu1087Ile) c.3253C>A (p.Leu1085Ile) c.3214C>A (p.Leu1072Ile) c.3202C>A (p.Leu1068Ile) c.3145C>A (p.Leu1049Ile) c.3121C>A (p.Leu1041Ile) c.3115C>A (p.Leu1039Ile) c.3097C>A (p.Leu1033Ile) c.3043C>A (p.Leu1015Ile) c.3118-253C>A (n.3118-253C>A) c.2350C>A (p.Leu784Ile) c.2263C>A (p.Leu755Ile) n.3539C>A | |
17 | g.39727436C= | CA2259228802 | ERBB2 | c.3301C= (p.Leu1101=) c.3211C= (p.Leu1071=) c.2473C= (p.Leu825=) c.3256C= (p.Leu1086=) c.*3091C= (n.*3091C=) c.3160-253C= (n.3160-253C=) n.3625C= c.3439C= (p.Leu1147=) c.3394C= (p.Leu1132=) c.3349C= (p.Leu1117=) c.3418C= (p.Leu1140=) c.3403C= (p.Leu1135=) c.3382C= (p.Leu1128=) c.3376C= (p.Leu1126=) c.3331C= (p.Leu1111=) c.3322C= (p.Leu1108=) c.3298C= (p.Leu1100=) c.3292C= (p.Leu1098=) c.3265C= (p.Leu1089=) c.3259C= (p.Leu1087=) c.3253C= (p.Leu1085=) c.3214C= (p.Leu1072=) c.3202C= (p.Leu1068=) c.3145C= (p.Leu1049=) c.3121C= (p.Leu1041=) c.3115C= (p.Leu1039=) c.3097C= (p.Leu1033=) c.3043C= (p.Leu1015=) c.3118-253C= (n.3118-253C=) c.2350C= (p.Leu784=) c.2263C= (p.Leu755=) n.3539C= | |
17 | g.39727436C>G | CA399310864 | ERBB2 | c.3301C>G (p.Leu1101Val) c.3211C>G (p.Leu1071Val) c.2473C>G (p.Leu825Val) c.3256C>G (p.Leu1086Val) c.*3091C>G (n.*3091C>G) c.3160-253C>G (n.3160-253C>G) n.3625C>G c.3439C>G (p.Leu1147Val) c.3394C>G (p.Leu1132Val) c.3349C>G (p.Leu1117Val) c.3418C>G (p.Leu1140Val) c.3403C>G (p.Leu1135Val) c.3382C>G (p.Leu1128Val) c.3376C>G (p.Leu1126Val) c.3331C>G (p.Leu1111Val) c.3322C>G (p.Leu1108Val) c.3298C>G (p.Leu1100Val) c.3292C>G (p.Leu1098Val) c.3265C>G (p.Leu1089Val) c.3259C>G (p.Leu1087Val) c.3253C>G (p.Leu1085Val) c.3214C>G (p.Leu1072Val) c.3202C>G (p.Leu1068Val) c.3145C>G (p.Leu1049Val) c.3121C>G (p.Leu1041Val) c.3115C>G (p.Leu1039Val) c.3097C>G (p.Leu1033Val) c.3043C>G (p.Leu1015Val) c.3118-253C>G (n.3118-253C>G) c.2350C>G (p.Leu784Val) c.2263C>G (p.Leu755Val) n.3539C>G | |
17 | g.39727436C>T | CA399310865 | ERBB2 | c.3301C>T (p.Leu1101Phe) c.3211C>T (p.Leu1071Phe) c.2473C>T (p.Leu825Phe) c.3256C>T (p.Leu1086Phe) c.*3091C>T (n.*3091C>T) c.3160-253C>T (n.3160-253C>T) n.3625C>T c.3439C>T (p.Leu1147Phe) c.3394C>T (p.Leu1132Phe) c.3349C>T (p.Leu1117Phe) c.3418C>T (p.Leu1140Phe) c.3403C>T (p.Leu1135Phe) c.3382C>T (p.Leu1128Phe) c.3376C>T (p.Leu1126Phe) c.3331C>T (p.Leu1111Phe) c.3322C>T (p.Leu1108Phe) c.3298C>T (p.Leu1100Phe) c.3292C>T (p.Leu1098Phe) c.3265C>T (p.Leu1089Phe) c.3259C>T (p.Leu1087Phe) c.3253C>T (p.Leu1085Phe) c.3214C>T (p.Leu1072Phe) c.3202C>T (p.Leu1068Phe) c.3145C>T (p.Leu1049Phe) c.3121C>T (p.Leu1041Phe) c.3115C>T (p.Leu1039Phe) c.3097C>T (p.Leu1033Phe) c.3043C>T (p.Leu1015Phe) c.3118-253C>T (n.3118-253C>T) c.2350C>T (p.Leu784Phe) c.2263C>T (p.Leu755Phe) n.3539C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727437T>A | CA399310870 | ERBB2 | c.3302T>A (p.Leu1101His) c.3212T>A (p.Leu1071His) c.2474T>A (p.Leu825His) c.3257T>A (p.Leu1086His) c.*3092T>A (n.*3092T>A) c.3160-252T>A (n.3160-252T>A) n.3626T>A c.3440T>A (p.Leu1147His) c.3395T>A (p.Leu1132His) c.3350T>A (p.Leu1117His) c.3419T>A (p.Leu1140His) c.3404T>A (p.Leu1135His) c.3383T>A (p.Leu1128His) c.3377T>A (p.Leu1126His) c.3332T>A (p.Leu1111His) c.3323T>A (p.Leu1108His) c.3299T>A (p.Leu1100His) c.3293T>A (p.Leu1098His) c.3266T>A (p.Leu1089His) c.3260T>A (p.Leu1087His) c.3254T>A (p.Leu1085His) c.3215T>A (p.Leu1072His) c.3203T>A (p.Leu1068His) c.3146T>A (p.Leu1049His) c.3122T>A (p.Leu1041His) c.3116T>A (p.Leu1039His) c.3098T>A (p.Leu1033His) c.3044T>A (p.Leu1015His) c.3118-252T>A (n.3118-252T>A) c.2351T>A (p.Leu784His) c.2264T>A (p.Leu755His) n.3540T>A | |
17 | g.39727437T>C | CA399310874 | ERBB2 | c.3302T>C (p.Leu1101Pro) c.3212T>C (p.Leu1071Pro) c.2474T>C (p.Leu825Pro) c.3257T>C (p.Leu1086Pro) c.*3092T>C (n.*3092T>C) c.3160-252T>C (n.3160-252T>C) n.3626T>C c.3440T>C (p.Leu1147Pro) c.3395T>C (p.Leu1132Pro) c.3350T>C (p.Leu1117Pro) c.3419T>C (p.Leu1140Pro) c.3404T>C (p.Leu1135Pro) c.3383T>C (p.Leu1128Pro) c.3377T>C (p.Leu1126Pro) c.3332T>C (p.Leu1111Pro) c.3323T>C (p.Leu1108Pro) c.3299T>C (p.Leu1100Pro) c.3293T>C (p.Leu1098Pro) c.3266T>C (p.Leu1089Pro) c.3260T>C (p.Leu1087Pro) c.3254T>C (p.Leu1085Pro) c.3215T>C (p.Leu1072Pro) c.3203T>C (p.Leu1068Pro) c.3146T>C (p.Leu1049Pro) c.3122T>C (p.Leu1041Pro) c.3116T>C (p.Leu1039Pro) c.3098T>C (p.Leu1033Pro) c.3044T>C (p.Leu1015Pro) c.3118-252T>C (n.3118-252T>C) c.2351T>C (p.Leu784Pro) c.2264T>C (p.Leu755Pro) n.3540T>C | |
17 | g.39727437T>G | CA399310878 | ERBB2 | c.3302T>G (p.Leu1101Arg) c.3212T>G (p.Leu1071Arg) c.2474T>G (p.Leu825Arg) c.3257T>G (p.Leu1086Arg) c.*3092T>G (n.*3092T>G) c.3160-252T>G (n.3160-252T>G) n.3626T>G c.3440T>G (p.Leu1147Arg) c.3395T>G (p.Leu1132Arg) c.3350T>G (p.Leu1117Arg) c.3419T>G (p.Leu1140Arg) c.3404T>G (p.Leu1135Arg) c.3383T>G (p.Leu1128Arg) c.3377T>G (p.Leu1126Arg) c.3332T>G (p.Leu1111Arg) c.3323T>G (p.Leu1108Arg) c.3299T>G (p.Leu1100Arg) c.3293T>G (p.Leu1098Arg) c.3266T>G (p.Leu1089Arg) c.3260T>G (p.Leu1087Arg) c.3254T>G (p.Leu1085Arg) c.3215T>G (p.Leu1072Arg) c.3203T>G (p.Leu1068Arg) c.3146T>G (p.Leu1049Arg) c.3122T>G (p.Leu1041Arg) c.3116T>G (p.Leu1039Arg) c.3098T>G (p.Leu1033Arg) c.3044T>G (p.Leu1015Arg) c.3118-252T>G (n.3118-252T>G) c.2351T>G (p.Leu784Arg) c.2264T>G (p.Leu755Arg) n.3540T>G | |
17 | g.39727438C>A | CA499671673 | ERBB2 | c.3303C>A (p.Leu1101=) c.3213C>A (p.Leu1071=) c.2475C>A (p.Leu825=) c.3258C>A (p.Leu1086=) c.*3093C>A (n.*3093C>A) c.3160-251C>A (n.3160-251C>A) n.3627C>A c.3441C>A (p.Leu1147=) c.3396C>A (p.Leu1132=) c.3351C>A (p.Leu1117=) c.3420C>A (p.Leu1140=) c.3405C>A (p.Leu1135=) c.3384C>A (p.Leu1128=) c.3378C>A (p.Leu1126=) c.3333C>A (p.Leu1111=) c.3324C>A (p.Leu1108=) c.3300C>A (p.Leu1100=) c.3294C>A (p.Leu1098=) c.3267C>A (p.Leu1089=) c.3261C>A (p.Leu1087=) c.3255C>A (p.Leu1085=) c.3216C>A (p.Leu1072=) c.3204C>A (p.Leu1068=) c.3147C>A (p.Leu1049=) c.3123C>A (p.Leu1041=) c.3117C>A (p.Leu1039=) c.3099C>A (p.Leu1033=) c.3045C>A (p.Leu1015=) c.3118-251C>A (n.3118-251C>A) c.2352C>A (p.Leu784=) c.2265C>A (p.Leu755=) n.3541C>A | |
17 | g.39727438C>G | CA499671674 | ERBB2 | c.3303C>G (p.Leu1101=) c.3213C>G (p.Leu1071=) c.2475C>G (p.Leu825=) c.3258C>G (p.Leu1086=) c.*3093C>G (n.*3093C>G) c.3160-251C>G (n.3160-251C>G) n.3627C>G c.3441C>G (p.Leu1147=) c.3396C>G (p.Leu1132=) c.3351C>G (p.Leu1117=) c.3420C>G (p.Leu1140=) c.3405C>G (p.Leu1135=) c.3384C>G (p.Leu1128=) c.3378C>G (p.Leu1126=) c.3333C>G (p.Leu1111=) c.3324C>G (p.Leu1108=) c.3300C>G (p.Leu1100=) c.3294C>G (p.Leu1098=) c.3267C>G (p.Leu1089=) c.3261C>G (p.Leu1087=) c.3255C>G (p.Leu1085=) c.3216C>G (p.Leu1072=) c.3204C>G (p.Leu1068=) c.3147C>G (p.Leu1049=) c.3123C>G (p.Leu1041=) c.3117C>G (p.Leu1039=) c.3099C>G (p.Leu1033=) c.3045C>G (p.Leu1015=) c.3118-251C>G (n.3118-251C>G) c.2352C>G (p.Leu784=) c.2265C>G (p.Leu755=) n.3541C>G | |
17 | g.39727438C>T | CA499671675 | ERBB2 | c.3303C>T (p.Leu1101=) c.3213C>T (p.Leu1071=) c.2475C>T (p.Leu825=) c.3258C>T (p.Leu1086=) c.*3093C>T (n.*3093C>T) c.3160-251C>T (n.3160-251C>T) n.3627C>T c.3441C>T (p.Leu1147=) c.3396C>T (p.Leu1132=) c.3351C>T (p.Leu1117=) c.3420C>T (p.Leu1140=) c.3405C>T (p.Leu1135=) c.3384C>T (p.Leu1128=) c.3378C>T (p.Leu1126=) c.3333C>T (p.Leu1111=) c.3324C>T (p.Leu1108=) c.3300C>T (p.Leu1100=) c.3294C>T (p.Leu1098=) c.3267C>T (p.Leu1089=) c.3261C>T (p.Leu1087=) c.3255C>T (p.Leu1085=) c.3216C>T (p.Leu1072=) c.3204C>T (p.Leu1068=) c.3147C>T (p.Leu1049=) c.3123C>T (p.Leu1041=) c.3117C>T (p.Leu1039=) c.3099C>T (p.Leu1033=) c.3045C>T (p.Leu1015=) c.3118-251C>T (n.3118-251C>T) c.2352C>T (p.Leu784=) c.2265C>T (p.Leu755=) n.3541C>T | |
17 | g.39727439C>A | CA399310882 | ERBB2 | c.3304C>A (p.Pro1102Thr) c.3214C>A (p.Pro1072Thr) c.2476C>A (p.Pro826Thr) c.3259C>A (p.Pro1087Thr) c.*3094C>A (n.*3094C>A) c.3160-250C>A (n.3160-250C>A) n.3628C>A c.3442C>A (p.Pro1148Thr) c.3397C>A (p.Pro1133Thr) c.3352C>A (p.Pro1118Thr) c.3421C>A (p.Pro1141Thr) c.3406C>A (p.Pro1136Thr) c.3385C>A (p.Pro1129Thr) c.3379C>A (p.Pro1127Thr) c.3334C>A (p.Pro1112Thr) c.3325C>A (p.Pro1109Thr) c.3301C>A (p.Pro1101Thr) c.3295C>A (p.Pro1099Thr) c.3268C>A (p.Pro1090Thr) c.3262C>A (p.Pro1088Thr) c.3256C>A (p.Pro1086Thr) c.3217C>A (p.Pro1073Thr) c.3205C>A (p.Pro1069Thr) c.3148C>A (p.Pro1050Thr) c.3124C>A (p.Pro1042Thr) c.3118C>A (p.Pro1040Thr) c.3100C>A (p.Pro1034Thr) c.3046C>A (p.Pro1016Thr) c.3118-250C>A (n.3118-250C>A) c.2353C>A (p.Pro785Thr) c.2266C>A (p.Pro756Thr) n.3542C>A | |
17 | g.39727439C>G | CA399310893 | ERBB2 | c.3304C>G (p.Pro1102Ala) c.3214C>G (p.Pro1072Ala) c.2476C>G (p.Pro826Ala) c.3259C>G (p.Pro1087Ala) c.*3094C>G (n.*3094C>G) c.3160-250C>G (n.3160-250C>G) n.3628C>G c.3442C>G (p.Pro1148Ala) c.3397C>G (p.Pro1133Ala) c.3352C>G (p.Pro1118Ala) c.3421C>G (p.Pro1141Ala) c.3406C>G (p.Pro1136Ala) c.3385C>G (p.Pro1129Ala) c.3379C>G (p.Pro1127Ala) c.3334C>G (p.Pro1112Ala) c.3325C>G (p.Pro1109Ala) c.3301C>G (p.Pro1101Ala) c.3295C>G (p.Pro1099Ala) c.3268C>G (p.Pro1090Ala) c.3262C>G (p.Pro1088Ala) c.3256C>G (p.Pro1086Ala) c.3217C>G (p.Pro1073Ala) c.3205C>G (p.Pro1069Ala) c.3148C>G (p.Pro1050Ala) c.3124C>G (p.Pro1042Ala) c.3118C>G (p.Pro1040Ala) c.3100C>G (p.Pro1034Ala) c.3046C>G (p.Pro1016Ala) c.3118-250C>G (n.3118-250C>G) c.2353C>G (p.Pro785Ala) c.2266C>G (p.Pro756Ala) n.3542C>G | gnomAD v4 |
17 | g.39727439C>T | CA399310889 | ERBB2 | c.3304C>T (p.Pro1102Ser) c.3214C>T (p.Pro1072Ser) c.2476C>T (p.Pro826Ser) c.3259C>T (p.Pro1087Ser) c.*3094C>T (n.*3094C>T) c.3160-250C>T (n.3160-250C>T) n.3628C>T c.3442C>T (p.Pro1148Ser) c.3397C>T (p.Pro1133Ser) c.3352C>T (p.Pro1118Ser) c.3421C>T (p.Pro1141Ser) c.3406C>T (p.Pro1136Ser) c.3385C>T (p.Pro1129Ser) c.3379C>T (p.Pro1127Ser) c.3334C>T (p.Pro1112Ser) c.3325C>T (p.Pro1109Ser) c.3301C>T (p.Pro1101Ser) c.3295C>T (p.Pro1099Ser) c.3268C>T (p.Pro1090Ser) c.3262C>T (p.Pro1088Ser) c.3256C>T (p.Pro1086Ser) c.3217C>T (p.Pro1073Ser) c.3205C>T (p.Pro1069Ser) c.3148C>T (p.Pro1050Ser) c.3124C>T (p.Pro1042Ser) c.3118C>T (p.Pro1040Ser) c.3100C>T (p.Pro1034Ser) c.3046C>T (p.Pro1016Ser) c.3118-250C>T (n.3118-250C>T) c.2353C>T (p.Pro785Ser) c.2266C>T (p.Pro756Ser) n.3542C>T | |
17 | g.39727440C>A | CA399310897 | ERBB2 | c.3305C>A (p.Pro1102His) c.3215C>A (p.Pro1072His) c.2477C>A (p.Pro826His) c.3260C>A (p.Pro1087His) c.*3095C>A (n.*3095C>A) c.3160-249C>A (n.3160-249C>A) n.3629C>A c.3443C>A (p.Pro1148His) c.3398C>A (p.Pro1133His) c.3353C>A (p.Pro1118His) c.3422C>A (p.Pro1141His) c.3407C>A (p.Pro1136His) c.3386C>A (p.Pro1129His) c.3380C>A (p.Pro1127His) c.3335C>A (p.Pro1112His) c.3326C>A (p.Pro1109His) c.3302C>A (p.Pro1101His) c.3296C>A (p.Pro1099His) c.3269C>A (p.Pro1090His) c.3263C>A (p.Pro1088His) c.3257C>A (p.Pro1086His) c.3218C>A (p.Pro1073His) c.3206C>A (p.Pro1069His) c.3149C>A (p.Pro1050His) c.3125C>A (p.Pro1042His) c.3119C>A (p.Pro1040His) c.3101C>A (p.Pro1034His) c.3047C>A (p.Pro1016His) c.3118-249C>A (n.3118-249C>A) c.2354C>A (p.Pro785His) c.2267C>A (p.Pro756His) n.3543C>A | |
17 | g.39727440C= | CA2259228803 | ERBB2 | c.3305C= (p.Pro1102=) c.3215C= (p.Pro1072=) c.2477C= (p.Pro826=) c.3260C= (p.Pro1087=) c.*3095C= (n.*3095C=) c.3160-249C= (n.3160-249C=) n.3629C= c.3443C= (p.Pro1148=) c.3398C= (p.Pro1133=) c.3353C= (p.Pro1118=) c.3422C= (p.Pro1141=) c.3407C= (p.Pro1136=) c.3386C= (p.Pro1129=) c.3380C= (p.Pro1127=) c.3335C= (p.Pro1112=) c.3326C= (p.Pro1109=) c.3302C= (p.Pro1101=) c.3296C= (p.Pro1099=) c.3269C= (p.Pro1090=) c.3263C= (p.Pro1088=) c.3257C= (p.Pro1086=) c.3218C= (p.Pro1073=) c.3206C= (p.Pro1069=) c.3149C= (p.Pro1050=) c.3125C= (p.Pro1042=) c.3119C= (p.Pro1040=) c.3101C= (p.Pro1034=) c.3047C= (p.Pro1016=) c.3118-249C= (n.3118-249C=) c.2354C= (p.Pro785=) c.2267C= (p.Pro756=) n.3543C= | |
17 | g.39727440C>G | CA399310901 | ERBB2 | c.3305C>G (p.Pro1102Arg) c.3215C>G (p.Pro1072Arg) c.2477C>G (p.Pro826Arg) c.3260C>G (p.Pro1087Arg) c.*3095C>G (n.*3095C>G) c.3160-249C>G (n.3160-249C>G) n.3629C>G c.3443C>G (p.Pro1148Arg) c.3398C>G (p.Pro1133Arg) c.3353C>G (p.Pro1118Arg) c.3422C>G (p.Pro1141Arg) c.3407C>G (p.Pro1136Arg) c.3386C>G (p.Pro1129Arg) c.3380C>G (p.Pro1127Arg) c.3335C>G (p.Pro1112Arg) c.3326C>G (p.Pro1109Arg) c.3302C>G (p.Pro1101Arg) c.3296C>G (p.Pro1099Arg) c.3269C>G (p.Pro1090Arg) c.3263C>G (p.Pro1088Arg) c.3257C>G (p.Pro1086Arg) c.3218C>G (p.Pro1073Arg) c.3206C>G (p.Pro1069Arg) c.3149C>G (p.Pro1050Arg) c.3125C>G (p.Pro1042Arg) c.3119C>G (p.Pro1040Arg) c.3101C>G (p.Pro1034Arg) c.3047C>G (p.Pro1016Arg) c.3118-249C>G (n.3118-249C>G) c.2354C>G (p.Pro785Arg) c.2267C>G (p.Pro756Arg) n.3543C>G | |
17 | g.39727440C>T | CA8534520 | ERBB2 | c.3305C>T (p.Pro1102Leu) c.3215C>T (p.Pro1072Leu) c.2477C>T (p.Pro826Leu) c.3260C>T (p.Pro1087Leu) c.*3095C>T (n.*3095C>T) c.3160-249C>T (n.3160-249C>T) n.3629C>T c.3443C>T (p.Pro1148Leu) c.3398C>T (p.Pro1133Leu) c.3353C>T (p.Pro1118Leu) c.3422C>T (p.Pro1141Leu) c.3407C>T (p.Pro1136Leu) c.3386C>T (p.Pro1129Leu) c.3380C>T (p.Pro1127Leu) c.3335C>T (p.Pro1112Leu) c.3326C>T (p.Pro1109Leu) c.3302C>T (p.Pro1101Leu) c.3296C>T (p.Pro1099Leu) c.3269C>T (p.Pro1090Leu) c.3263C>T (p.Pro1088Leu) c.3257C>T (p.Pro1086Leu) c.3218C>T (p.Pro1073Leu) c.3206C>T (p.Pro1069Leu) c.3149C>T (p.Pro1050Leu) c.3125C>T (p.Pro1042Leu) c.3119C>T (p.Pro1040Leu) c.3101C>T (p.Pro1034Leu) c.3047C>T (p.Pro1016Leu) c.3118-249C>T (n.3118-249C>T) c.2354C>T (p.Pro785Leu) c.2267C>T (p.Pro756Leu) n.3543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727441C>A | CA499671676 | ERBB2 | c.3306C>A (p.Pro1102=) c.3216C>A (p.Pro1072=) c.2478C>A (p.Pro826=) c.3261C>A (p.Pro1087=) c.*3096C>A (n.*3096C>A) c.3160-248C>A (n.3160-248C>A) n.3630C>A c.3444C>A (p.Pro1148=) c.3399C>A (p.Pro1133=) c.3354C>A (p.Pro1118=) c.3423C>A (p.Pro1141=) c.3408C>A (p.Pro1136=) c.3387C>A (p.Pro1129=) c.3381C>A (p.Pro1127=) c.3336C>A (p.Pro1112=) c.3327C>A (p.Pro1109=) c.3303C>A (p.Pro1101=) c.3297C>A (p.Pro1099=) c.3270C>A (p.Pro1090=) c.3264C>A (p.Pro1088=) c.3258C>A (p.Pro1086=) c.3219C>A (p.Pro1073=) c.3207C>A (p.Pro1069=) c.3150C>A (p.Pro1050=) c.3126C>A (p.Pro1042=) c.3120C>A (p.Pro1040=) c.3102C>A (p.Pro1034=) c.3048C>A (p.Pro1016=) c.3118-248C>A (n.3118-248C>A) c.2355C>A (p.Pro785=) c.2268C>A (p.Pro756=) n.3544C>A | dbSNP gnomAD v4 |
17 | g.39727441C>G | CA499671677 | ERBB2 | c.3306C>G (p.Pro1102=) c.3216C>G (p.Pro1072=) c.2478C>G (p.Pro826=) c.3261C>G (p.Pro1087=) c.*3096C>G (n.*3096C>G) c.3160-248C>G (n.3160-248C>G) n.3630C>G c.3444C>G (p.Pro1148=) c.3399C>G (p.Pro1133=) c.3354C>G (p.Pro1118=) c.3423C>G (p.Pro1141=) c.3408C>G (p.Pro1136=) c.3387C>G (p.Pro1129=) c.3381C>G (p.Pro1127=) c.3336C>G (p.Pro1112=) c.3327C>G (p.Pro1109=) c.3303C>G (p.Pro1101=) c.3297C>G (p.Pro1099=) c.3270C>G (p.Pro1090=) c.3264C>G (p.Pro1088=) c.3258C>G (p.Pro1086=) c.3219C>G (p.Pro1073=) c.3207C>G (p.Pro1069=) c.3150C>G (p.Pro1050=) c.3126C>G (p.Pro1042=) c.3120C>G (p.Pro1040=) c.3102C>G (p.Pro1034=) c.3048C>G (p.Pro1016=) c.3118-248C>G (n.3118-248C>G) c.2355C>G (p.Pro785=) c.2268C>G (p.Pro756=) n.3544C>G | |
17 | g.39727441C>T | CA499671678 | ERBB2 | c.3306C>T (p.Pro1102=) c.3216C>T (p.Pro1072=) c.2478C>T (p.Pro826=) c.3261C>T (p.Pro1087=) c.*3096C>T (n.*3096C>T) c.3160-248C>T (n.3160-248C>T) n.3630C>T c.3444C>T (p.Pro1148=) c.3399C>T (p.Pro1133=) c.3354C>T (p.Pro1118=) c.3423C>T (p.Pro1141=) c.3408C>T (p.Pro1136=) c.3387C>T (p.Pro1129=) c.3381C>T (p.Pro1127=) c.3336C>T (p.Pro1112=) c.3327C>T (p.Pro1109=) c.3303C>T (p.Pro1101=) c.3297C>T (p.Pro1099=) c.3270C>T (p.Pro1090=) c.3264C>T (p.Pro1088=) c.3258C>T (p.Pro1086=) c.3219C>T (p.Pro1073=) c.3207C>T (p.Pro1069=) c.3150C>T (p.Pro1050=) c.3126C>T (p.Pro1042=) c.3120C>T (p.Pro1040=) c.3102C>T (p.Pro1034=) c.3048C>T (p.Pro1016=) c.3118-248C>T (n.3118-248C>T) c.2355C>T (p.Pro785=) c.2268C>T (p.Pro756=) n.3544C>T | dbSNP |