Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.39727442A>C | CA399310908 | ERBB2 | c.3307A>C (p.Thr1103Pro) c.3217A>C (p.Thr1073Pro) c.2479A>C (p.Thr827Pro) c.3262A>C (p.Thr1088Pro) c.*3097A>C (n.*3097A>C) c.3160-247A>C (n.3160-247A>C) n.3631A>C c.3445A>C (p.Thr1149Pro) c.3400A>C (p.Thr1134Pro) c.3355A>C (p.Thr1119Pro) c.3424A>C (p.Thr1142Pro) c.3409A>C (p.Thr1137Pro) c.3388A>C (p.Thr1130Pro) c.3382A>C (p.Thr1128Pro) c.3337A>C (p.Thr1113Pro) c.3328A>C (p.Thr1110Pro) c.3304A>C (p.Thr1102Pro) c.3298A>C (p.Thr1100Pro) c.3271A>C (p.Thr1091Pro) c.3265A>C (p.Thr1089Pro) c.3259A>C (p.Thr1087Pro) c.3220A>C (p.Thr1074Pro) c.3208A>C (p.Thr1070Pro) c.3151A>C (p.Thr1051Pro) c.3127A>C (p.Thr1043Pro) c.3121A>C (p.Thr1041Pro) c.3103A>C (p.Thr1035Pro) c.3049A>C (p.Thr1017Pro) c.3118-247A>C (n.3118-247A>C) c.2356A>C (p.Thr786Pro) c.2269A>C (p.Thr757Pro) n.3545A>C | dbSNP |
17 | g.39727442A>G | CA399310910 | ERBB2 | c.3307A>G (p.Thr1103Ala) c.3217A>G (p.Thr1073Ala) c.2479A>G (p.Thr827Ala) c.3262A>G (p.Thr1088Ala) c.*3097A>G (n.*3097A>G) c.3160-247A>G (n.3160-247A>G) n.3631A>G c.3445A>G (p.Thr1149Ala) c.3400A>G (p.Thr1134Ala) c.3355A>G (p.Thr1119Ala) c.3424A>G (p.Thr1142Ala) c.3409A>G (p.Thr1137Ala) c.3388A>G (p.Thr1130Ala) c.3382A>G (p.Thr1128Ala) c.3337A>G (p.Thr1113Ala) c.3328A>G (p.Thr1110Ala) c.3304A>G (p.Thr1102Ala) c.3298A>G (p.Thr1100Ala) c.3271A>G (p.Thr1091Ala) c.3265A>G (p.Thr1089Ala) c.3259A>G (p.Thr1087Ala) c.3220A>G (p.Thr1074Ala) c.3208A>G (p.Thr1070Ala) c.3151A>G (p.Thr1051Ala) c.3127A>G (p.Thr1043Ala) c.3121A>G (p.Thr1041Ala) c.3103A>G (p.Thr1035Ala) c.3049A>G (p.Thr1017Ala) c.3118-247A>G (n.3118-247A>G) c.2356A>G (p.Thr786Ala) c.2269A>G (p.Thr757Ala) n.3545A>G | dbSNP |
17 | g.39727442A>T | CA399310916 | ERBB2 | c.3307A>T (p.Thr1103Ser) c.3217A>T (p.Thr1073Ser) c.2479A>T (p.Thr827Ser) c.3262A>T (p.Thr1088Ser) c.*3097A>T (n.*3097A>T) c.3160-247A>T (n.3160-247A>T) n.3631A>T c.3445A>T (p.Thr1149Ser) c.3400A>T (p.Thr1134Ser) c.3355A>T (p.Thr1119Ser) c.3424A>T (p.Thr1142Ser) c.3409A>T (p.Thr1137Ser) c.3388A>T (p.Thr1130Ser) c.3382A>T (p.Thr1128Ser) c.3337A>T (p.Thr1113Ser) c.3328A>T (p.Thr1110Ser) c.3304A>T (p.Thr1102Ser) c.3298A>T (p.Thr1100Ser) c.3271A>T (p.Thr1091Ser) c.3265A>T (p.Thr1089Ser) c.3259A>T (p.Thr1087Ser) c.3220A>T (p.Thr1074Ser) c.3208A>T (p.Thr1070Ser) c.3151A>T (p.Thr1051Ser) c.3127A>T (p.Thr1043Ser) c.3121A>T (p.Thr1041Ser) c.3103A>T (p.Thr1035Ser) c.3049A>T (p.Thr1017Ser) c.3118-247A>T (n.3118-247A>T) c.2356A>T (p.Thr786Ser) c.2269A>T (p.Thr757Ser) n.3545A>T | dbSNP gnomAD v4 |
17 | g.39727443C>A | CA399310920 | ERBB2 | c.3308C>A (p.Thr1103Lys) c.3218C>A (p.Thr1073Lys) c.2480C>A (p.Thr827Lys) c.3263C>A (p.Thr1088Lys) c.*3098C>A (n.*3098C>A) c.3160-246C>A (n.3160-246C>A) n.3632C>A c.3446C>A (p.Thr1149Lys) c.3401C>A (p.Thr1134Lys) c.3356C>A (p.Thr1119Lys) c.3425C>A (p.Thr1142Lys) c.3410C>A (p.Thr1137Lys) c.3389C>A (p.Thr1130Lys) c.3383C>A (p.Thr1128Lys) c.3338C>A (p.Thr1113Lys) c.3329C>A (p.Thr1110Lys) c.3305C>A (p.Thr1102Lys) c.3299C>A (p.Thr1100Lys) c.3272C>A (p.Thr1091Lys) c.3266C>A (p.Thr1089Lys) c.3260C>A (p.Thr1087Lys) c.3221C>A (p.Thr1074Lys) c.3209C>A (p.Thr1070Lys) c.3152C>A (p.Thr1051Lys) c.3128C>A (p.Thr1043Lys) c.3122C>A (p.Thr1041Lys) c.3104C>A (p.Thr1035Lys) c.3050C>A (p.Thr1017Lys) c.3118-246C>A (n.3118-246C>A) c.2357C>A (p.Thr786Lys) c.2270C>A (p.Thr757Lys) n.3546C>A | |
17 | g.39727443C= | CA2259228805 | ERBB2 | c.3308C= (p.Thr1103=) c.3218C= (p.Thr1073=) c.2480C= (p.Thr827=) c.3263C= (p.Thr1088=) c.*3098C= (n.*3098C=) c.3160-246C= (n.3160-246C=) n.3632C= c.3446C= (p.Thr1149=) c.3401C= (p.Thr1134=) c.3356C= (p.Thr1119=) c.3425C= (p.Thr1142=) c.3410C= (p.Thr1137=) c.3389C= (p.Thr1130=) c.3383C= (p.Thr1128=) c.3338C= (p.Thr1113=) c.3329C= (p.Thr1110=) c.3305C= (p.Thr1102=) c.3299C= (p.Thr1100=) c.3272C= (p.Thr1091=) c.3266C= (p.Thr1089=) c.3260C= (p.Thr1087=) c.3221C= (p.Thr1074=) c.3209C= (p.Thr1070=) c.3152C= (p.Thr1051=) c.3128C= (p.Thr1043=) c.3122C= (p.Thr1041=) c.3104C= (p.Thr1035=) c.3050C= (p.Thr1017=) c.3118-246C= (n.3118-246C=) c.2357C= (p.Thr786=) c.2270C= (p.Thr757=) n.3546C= | |
17 | g.39727443C>G | CA399310923 | ERBB2 | c.3308C>G (p.Thr1103Arg) c.3218C>G (p.Thr1073Arg) c.2480C>G (p.Thr827Arg) c.3263C>G (p.Thr1088Arg) c.*3098C>G (n.*3098C>G) c.3160-246C>G (n.3160-246C>G) n.3632C>G c.3446C>G (p.Thr1149Arg) c.3401C>G (p.Thr1134Arg) c.3356C>G (p.Thr1119Arg) c.3425C>G (p.Thr1142Arg) c.3410C>G (p.Thr1137Arg) c.3389C>G (p.Thr1130Arg) c.3383C>G (p.Thr1128Arg) c.3338C>G (p.Thr1113Arg) c.3329C>G (p.Thr1110Arg) c.3305C>G (p.Thr1102Arg) c.3299C>G (p.Thr1100Arg) c.3272C>G (p.Thr1091Arg) c.3266C>G (p.Thr1089Arg) c.3260C>G (p.Thr1087Arg) c.3221C>G (p.Thr1074Arg) c.3209C>G (p.Thr1070Arg) c.3152C>G (p.Thr1051Arg) c.3128C>G (p.Thr1043Arg) c.3122C>G (p.Thr1041Arg) c.3104C>G (p.Thr1035Arg) c.3050C>G (p.Thr1017Arg) c.3118-246C>G (n.3118-246C>G) c.2357C>G (p.Thr786Arg) c.2270C>G (p.Thr757Arg) n.3546C>G | ClinVar dbSNP |
17 | g.39727443C>T | CA8534521 | ERBB2 | c.3308C>T (p.Thr1103Ile) c.3218C>T (p.Thr1073Ile) c.2480C>T (p.Thr827Ile) c.3263C>T (p.Thr1088Ile) c.*3098C>T (n.*3098C>T) c.3160-246C>T (n.3160-246C>T) n.3632C>T c.3446C>T (p.Thr1149Ile) c.3401C>T (p.Thr1134Ile) c.3356C>T (p.Thr1119Ile) c.3425C>T (p.Thr1142Ile) c.3410C>T (p.Thr1137Ile) c.3389C>T (p.Thr1130Ile) c.3383C>T (p.Thr1128Ile) c.3338C>T (p.Thr1113Ile) c.3329C>T (p.Thr1110Ile) c.3305C>T (p.Thr1102Ile) c.3299C>T (p.Thr1100Ile) c.3272C>T (p.Thr1091Ile) c.3266C>T (p.Thr1089Ile) c.3260C>T (p.Thr1087Ile) c.3221C>T (p.Thr1074Ile) c.3209C>T (p.Thr1070Ile) c.3152C>T (p.Thr1051Ile) c.3128C>T (p.Thr1043Ile) c.3122C>T (p.Thr1041Ile) c.3104C>T (p.Thr1035Ile) c.3050C>T (p.Thr1017Ile) c.3118-246C>T (n.3118-246C>T) c.2357C>T (p.Thr786Ile) c.2270C>T (p.Thr757Ile) n.3546C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727444A>C | CA499671679 | ERBB2 | c.3309A>C (p.Thr1103=) c.3219A>C (p.Thr1073=) c.2481A>C (p.Thr827=) c.3264A>C (p.Thr1088=) c.*3099A>C (n.*3099A>C) c.3160-245A>C (n.3160-245A>C) n.3633A>C c.3447A>C (p.Thr1149=) c.3402A>C (p.Thr1134=) c.3357A>C (p.Thr1119=) c.3426A>C (p.Thr1142=) c.3411A>C (p.Thr1137=) c.3390A>C (p.Thr1130=) c.3384A>C (p.Thr1128=) c.3339A>C (p.Thr1113=) c.3330A>C (p.Thr1110=) c.3306A>C (p.Thr1102=) c.3300A>C (p.Thr1100=) c.3273A>C (p.Thr1091=) c.3267A>C (p.Thr1089=) c.3261A>C (p.Thr1087=) c.3222A>C (p.Thr1074=) c.3210A>C (p.Thr1070=) c.3153A>C (p.Thr1051=) c.3129A>C (p.Thr1043=) c.3123A>C (p.Thr1041=) c.3105A>C (p.Thr1035=) c.3051A>C (p.Thr1017=) c.3118-245A>C (n.3118-245A>C) c.2358A>C (p.Thr786=) c.2271A>C (p.Thr757=) n.3547A>C | dbSNP |
17 | g.39727444A>G | CA499671680 | ERBB2 | c.3309A>G (p.Thr1103=) c.3219A>G (p.Thr1073=) c.2481A>G (p.Thr827=) c.3264A>G (p.Thr1088=) c.*3099A>G (n.*3099A>G) c.3160-245A>G (n.3160-245A>G) n.3633A>G c.3447A>G (p.Thr1149=) c.3402A>G (p.Thr1134=) c.3357A>G (p.Thr1119=) c.3426A>G (p.Thr1142=) c.3411A>G (p.Thr1137=) c.3390A>G (p.Thr1130=) c.3384A>G (p.Thr1128=) c.3339A>G (p.Thr1113=) c.3330A>G (p.Thr1110=) c.3306A>G (p.Thr1102=) c.3300A>G (p.Thr1100=) c.3273A>G (p.Thr1091=) c.3267A>G (p.Thr1089=) c.3261A>G (p.Thr1087=) c.3222A>G (p.Thr1074=) c.3210A>G (p.Thr1070=) c.3153A>G (p.Thr1051=) c.3129A>G (p.Thr1043=) c.3123A>G (p.Thr1041=) c.3105A>G (p.Thr1035=) c.3051A>G (p.Thr1017=) c.3118-245A>G (n.3118-245A>G) c.2358A>G (p.Thr786=) c.2271A>G (p.Thr757=) n.3547A>G | dbSNP |
17 | g.39727444A>T | CA499671681 | ERBB2 | c.3309A>T (p.Thr1103=) c.3219A>T (p.Thr1073=) c.2481A>T (p.Thr827=) c.3264A>T (p.Thr1088=) c.*3099A>T (n.*3099A>T) c.3160-245A>T (n.3160-245A>T) n.3633A>T c.3447A>T (p.Thr1149=) c.3402A>T (p.Thr1134=) c.3357A>T (p.Thr1119=) c.3426A>T (p.Thr1142=) c.3411A>T (p.Thr1137=) c.3390A>T (p.Thr1130=) c.3384A>T (p.Thr1128=) c.3339A>T (p.Thr1113=) c.3330A>T (p.Thr1110=) c.3306A>T (p.Thr1102=) c.3300A>T (p.Thr1100=) c.3273A>T (p.Thr1091=) c.3267A>T (p.Thr1089=) c.3261A>T (p.Thr1087=) c.3222A>T (p.Thr1074=) c.3210A>T (p.Thr1070=) c.3153A>T (p.Thr1051=) c.3129A>T (p.Thr1043=) c.3123A>T (p.Thr1041=) c.3105A>T (p.Thr1035=) c.3051A>T (p.Thr1017=) c.3118-245A>T (n.3118-245A>T) c.2358A>T (p.Thr786=) c.2271A>T (p.Thr757=) n.3547A>T | dbSNP |
17 | g.39727445C>A | CA399310932 | ERBB2 | c.3310C>A (p.His1104Asn) c.3220C>A (p.His1074Asn) c.2482C>A (p.His828Asn) c.3265C>A (p.His1089Asn) c.*3100C>A (n.*3100C>A) c.3160-244C>A (n.3160-244C>A) n.3634C>A c.3448C>A (p.His1150Asn) c.3403C>A (p.His1135Asn) c.3358C>A (p.His1120Asn) c.3427C>A (p.His1143Asn) c.3412C>A (p.His1138Asn) c.3391C>A (p.His1131Asn) c.3385C>A (p.His1129Asn) c.3340C>A (p.His1114Asn) c.3331C>A (p.His1111Asn) c.3307C>A (p.His1103Asn) c.3301C>A (p.His1101Asn) c.3274C>A (p.His1092Asn) c.3268C>A (p.His1090Asn) c.3262C>A (p.His1088Asn) c.3223C>A (p.His1075Asn) c.3211C>A (p.His1071Asn) c.3154C>A (p.His1052Asn) c.3130C>A (p.His1044Asn) c.3124C>A (p.His1042Asn) c.3106C>A (p.His1036Asn) c.3052C>A (p.His1018Asn) c.3118-244C>A (n.3118-244C>A) c.2359C>A (p.His787Asn) c.2272C>A (p.His758Asn) n.3548C>A | dbSNP |
17 | g.39727445C= | CA2259228808 | ERBB2 | c.3310C= (p.His1104=) c.3220C= (p.His1074=) c.2482C= (p.His828=) c.3265C= (p.His1089=) c.*3100C= (n.*3100C=) c.3160-244C= (n.3160-244C=) n.3634C= c.3448C= (p.His1150=) c.3403C= (p.His1135=) c.3358C= (p.His1120=) c.3427C= (p.His1143=) c.3412C= (p.His1138=) c.3391C= (p.His1131=) c.3385C= (p.His1129=) c.3340C= (p.His1114=) c.3331C= (p.His1111=) c.3307C= (p.His1103=) c.3301C= (p.His1101=) c.3274C= (p.His1092=) c.3268C= (p.His1090=) c.3262C= (p.His1088=) c.3223C= (p.His1075=) c.3211C= (p.His1071=) c.3154C= (p.His1052=) c.3130C= (p.His1044=) c.3124C= (p.His1042=) c.3106C= (p.His1036=) c.3052C= (p.His1018=) c.3118-244C= (n.3118-244C=) c.2359C= (p.His787=) c.2272C= (p.His758=) n.3548C= | |
17 | g.39727445C>G | CA399310936 | ERBB2 | c.3310C>G (p.His1104Asp) c.3220C>G (p.His1074Asp) c.2482C>G (p.His828Asp) c.3265C>G (p.His1089Asp) c.*3100C>G (n.*3100C>G) c.3160-244C>G (n.3160-244C>G) n.3634C>G c.3448C>G (p.His1150Asp) c.3403C>G (p.His1135Asp) c.3358C>G (p.His1120Asp) c.3427C>G (p.His1143Asp) c.3412C>G (p.His1138Asp) c.3391C>G (p.His1131Asp) c.3385C>G (p.His1129Asp) c.3340C>G (p.His1114Asp) c.3331C>G (p.His1111Asp) c.3307C>G (p.His1103Asp) c.3301C>G (p.His1101Asp) c.3274C>G (p.His1092Asp) c.3268C>G (p.His1090Asp) c.3262C>G (p.His1088Asp) c.3223C>G (p.His1075Asp) c.3211C>G (p.His1071Asp) c.3154C>G (p.His1052Asp) c.3130C>G (p.His1044Asp) c.3124C>G (p.His1042Asp) c.3106C>G (p.His1036Asp) c.3052C>G (p.His1018Asp) c.3118-244C>G (n.3118-244C>G) c.2359C>G (p.His787Asp) c.2272C>G (p.His758Asp) n.3548C>G | dbSNP |
17 | g.39727445C>T | CA399310937 | ERBB2 | c.3310C>T (p.His1104Tyr) c.3220C>T (p.His1074Tyr) c.2482C>T (p.His828Tyr) c.3265C>T (p.His1089Tyr) c.*3100C>T (n.*3100C>T) c.3160-244C>T (n.3160-244C>T) n.3634C>T c.3448C>T (p.His1150Tyr) c.3403C>T (p.His1135Tyr) c.3358C>T (p.His1120Tyr) c.3427C>T (p.His1143Tyr) c.3412C>T (p.His1138Tyr) c.3391C>T (p.His1131Tyr) c.3385C>T (p.His1129Tyr) c.3340C>T (p.His1114Tyr) c.3331C>T (p.His1111Tyr) c.3307C>T (p.His1103Tyr) c.3301C>T (p.His1101Tyr) c.3274C>T (p.His1092Tyr) c.3268C>T (p.His1090Tyr) c.3262C>T (p.His1088Tyr) c.3223C>T (p.His1075Tyr) c.3211C>T (p.His1071Tyr) c.3154C>T (p.His1052Tyr) c.3130C>T (p.His1044Tyr) c.3124C>T (p.His1042Tyr) c.3106C>T (p.His1036Tyr) c.3052C>T (p.His1018Tyr) c.3118-244C>T (n.3118-244C>T) c.2359C>T (p.His787Tyr) c.2272C>T (p.His758Tyr) n.3548C>T | dbSNP |
17 | g.39727445_39727447delinsCAT | CA2259228807 | ERBB2 | c.3310_3312delinsCAT (p.His1104=) c.3220_3222delinsCAT (p.His1074=) c.2482_2484delinsCAT (p.His828=) c.3265_3267delinsCAT (p.His1089=) c.*3100_*3102delinsCAT (n.*3100_*3102delinsCAT) c.3160-244_3160-242delinsCAT (n.3160-244_3160-242delinsCAT) n.3634_3636delinsCAT c.3448_3450delinsCAT (p.His1150=) c.3403_3405delinsCAT (p.His1135=) c.3358_3360delinsCAT (p.His1120=) c.3427_3429delinsCAT (p.His1143=) c.3412_3414delinsCAT (p.His1138=) c.3391_3393delinsCAT (p.His1131=) c.3385_3387delinsCAT (p.His1129=) c.3340_3342delinsCAT (p.His1114=) c.3331_3333delinsCAT (p.His1111=) c.3307_3309delinsCAT (p.His1103=) c.3301_3303delinsCAT (p.His1101=) c.3274_3276delinsCAT (p.His1092=) c.3268_3270delinsCAT (p.His1090=) c.3262_3264delinsCAT (p.His1088=) c.3223_3225delinsCAT (p.His1075=) c.3211_3213delinsCAT (p.His1071=) c.3154_3156delinsCAT (p.His1052=) c.3130_3132delinsCAT (p.His1044=) c.3124_3126delinsCAT (p.His1042=) c.3106_3108delinsCAT (p.His1036=) c.3052_3054delinsCAT (p.His1018=) c.3118-244_3118-242delinsCAT (n.3118-244_3118-242delinsCAT) c.2359_2361delinsCAT (p.His787=) c.2272_2274delinsCAT (p.His758=) n.3548_3550delinsCAT | |
17 | g.39727446A= | CA2259228810 | ERBB2 | c.3311A= (p.His1104=) c.3221A= (p.His1074=) c.2483A= (p.His828=) c.3266A= (p.His1089=) c.*3101A= (n.*3101A=) c.3160-243A= (n.3160-243A=) n.3635A= c.3449A= (p.His1150=) c.3404A= (p.His1135=) c.3359A= (p.His1120=) c.3428A= (p.His1143=) c.3413A= (p.His1138=) c.3392A= (p.His1131=) c.3386A= (p.His1129=) c.3341A= (p.His1114=) c.3332A= (p.His1111=) c.3308A= (p.His1103=) c.3302A= (p.His1101=) c.3275A= (p.His1092=) c.3269A= (p.His1090=) c.3263A= (p.His1088=) c.3224A= (p.His1075=) c.3212A= (p.His1071=) c.3155A= (p.His1052=) c.3131A= (p.His1044=) c.3125A= (p.His1042=) c.3107A= (p.His1036=) c.3053A= (p.His1018=) c.3118-243A= (n.3118-243A=) c.2360A= (p.His787=) c.2273A= (p.His758=) n.3549A= | |
17 | g.39727446A>C | CA399310947 | ERBB2 | c.3311A>C (p.His1104Pro) c.3221A>C (p.His1074Pro) c.2483A>C (p.His828Pro) c.3266A>C (p.His1089Pro) c.*3101A>C (n.*3101A>C) c.3160-243A>C (n.3160-243A>C) n.3635A>C c.3449A>C (p.His1150Pro) c.3404A>C (p.His1135Pro) c.3359A>C (p.His1120Pro) c.3428A>C (p.His1143Pro) c.3413A>C (p.His1138Pro) c.3392A>C (p.His1131Pro) c.3386A>C (p.His1129Pro) c.3341A>C (p.His1114Pro) c.3332A>C (p.His1111Pro) c.3308A>C (p.His1103Pro) c.3302A>C (p.His1101Pro) c.3275A>C (p.His1092Pro) c.3269A>C (p.His1090Pro) c.3263A>C (p.His1088Pro) c.3224A>C (p.His1075Pro) c.3212A>C (p.His1071Pro) c.3155A>C (p.His1052Pro) c.3131A>C (p.His1044Pro) c.3125A>C (p.His1042Pro) c.3107A>C (p.His1036Pro) c.3053A>C (p.His1018Pro) c.3118-243A>C (n.3118-243A>C) c.2360A>C (p.His787Pro) c.2273A>C (p.His758Pro) n.3549A>C | dbSNP |
17 | g.39727446A>G | CA290443387 | ERBB2 | c.3311A>G (p.His1104Arg) c.3221A>G (p.His1074Arg) c.2483A>G (p.His828Arg) c.3266A>G (p.His1089Arg) c.*3101A>G (n.*3101A>G) c.3160-243A>G (n.3160-243A>G) n.3635A>G c.3449A>G (p.His1150Arg) c.3404A>G (p.His1135Arg) c.3359A>G (p.His1120Arg) c.3428A>G (p.His1143Arg) c.3413A>G (p.His1138Arg) c.3392A>G (p.His1131Arg) c.3386A>G (p.His1129Arg) c.3341A>G (p.His1114Arg) c.3332A>G (p.His1111Arg) c.3308A>G (p.His1103Arg) c.3302A>G (p.His1101Arg) c.3275A>G (p.His1092Arg) c.3269A>G (p.His1090Arg) c.3263A>G (p.His1088Arg) c.3224A>G (p.His1075Arg) c.3212A>G (p.His1071Arg) c.3155A>G (p.His1052Arg) c.3131A>G (p.His1044Arg) c.3125A>G (p.His1042Arg) c.3107A>G (p.His1036Arg) c.3053A>G (p.His1018Arg) c.3118-243A>G (n.3118-243A>G) c.2360A>G (p.His787Arg) c.2273A>G (p.His758Arg) n.3549A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727446A>T | CA399310944 | ERBB2 | c.3311A>T (p.His1104Leu) c.3221A>T (p.His1074Leu) c.2483A>T (p.His828Leu) c.3266A>T (p.His1089Leu) c.*3101A>T (n.*3101A>T) c.3160-243A>T (n.3160-243A>T) n.3635A>T c.3449A>T (p.His1150Leu) c.3404A>T (p.His1135Leu) c.3359A>T (p.His1120Leu) c.3428A>T (p.His1143Leu) c.3413A>T (p.His1138Leu) c.3392A>T (p.His1131Leu) c.3386A>T (p.His1129Leu) c.3341A>T (p.His1114Leu) c.3332A>T (p.His1111Leu) c.3308A>T (p.His1103Leu) c.3302A>T (p.His1101Leu) c.3275A>T (p.His1092Leu) c.3269A>T (p.His1090Leu) c.3263A>T (p.His1088Leu) c.3224A>T (p.His1075Leu) c.3212A>T (p.His1071Leu) c.3155A>T (p.His1052Leu) c.3131A>T (p.His1044Leu) c.3125A>T (p.His1042Leu) c.3107A>T (p.His1036Leu) c.3053A>T (p.His1018Leu) c.3118-243A>T (n.3118-243A>T) c.2360A>T (p.His787Leu) c.2273A>T (p.His758Leu) n.3549A>T | dbSNP |
17 | g.39727446_39727447del | CA626209672 | ERBB2 | c.3311_3312del (p.His1104ArgfsTer10) c.3221_3222del (p.His1074ArgfsTer10) c.2483_2484del (p.His828ArgfsTer10) c.3266_3267del (p.His1089ArgfsTer10) c.*3101_*3102del (n.*3101_*3102del) c.3160-243_3160-242del (n.3160-243_3160-242del) n.3635_3636del c.3449_3450del (p.His1150ArgfsTer10) c.3404_3405del (p.His1135ArgfsTer10) c.3359_3360del (p.His1120ArgfsTer10) c.3428_3429del (p.His1143ArgfsTer10) c.3413_3414del (p.His1138ArgfsTer10) c.3392_3393del (p.His1131ArgfsTer10) c.3386_3387del (p.His1129ArgfsTer10) c.3341_3342del (p.His1114ArgfsTer10) c.3332_3333del (p.His1111ArgfsTer10) c.3308_3309del (p.His1103ArgfsTer10) c.3302_3303del (p.His1101ArgfsTer10) c.3275_3276del (p.His1092ArgfsTer10) c.3269_3270del (p.His1090ArgfsTer10) c.3263_3264del (p.His1088ArgfsTer10) c.3224_3225del (p.His1075ArgfsTer10) c.3212_3213del (p.His1071ArgfsTer10) c.3155_3156del (p.His1052ArgfsTer10) c.3131_3132del (p.His1044ArgfsTer10) c.3125_3126del (p.His1042ArgfsTer10) c.3107_3108del (p.His1036ArgfsTer10) c.3053_3054del (p.His1018ArgfsTer10) c.3118-243_3118-242del (n.3118-243_3118-242del) c.2360_2361del (p.His787ArgfsTer10) c.2273_2274del (p.His758ArgfsTer10) n.3549_3550del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727447T>A | CA399310951 | ERBB2 | c.3312T>A (p.His1104Gln) c.3222T>A (p.His1074Gln) c.2484T>A (p.His828Gln) c.3267T>A (p.His1089Gln) c.*3102T>A (n.*3102T>A) c.3160-242T>A (n.3160-242T>A) n.3636T>A c.3450T>A (p.His1150Gln) c.3405T>A (p.His1135Gln) c.3360T>A (p.His1120Gln) c.3429T>A (p.His1143Gln) c.3414T>A (p.His1138Gln) c.3393T>A (p.His1131Gln) c.3387T>A (p.His1129Gln) c.3342T>A (p.His1114Gln) c.3333T>A (p.His1111Gln) c.3309T>A (p.His1103Gln) c.3303T>A (p.His1101Gln) c.3276T>A (p.His1092Gln) c.3270T>A (p.His1090Gln) c.3264T>A (p.His1088Gln) c.3225T>A (p.His1075Gln) c.3213T>A (p.His1071Gln) c.3156T>A (p.His1052Gln) c.3132T>A (p.His1044Gln) c.3126T>A (p.His1042Gln) c.3108T>A (p.His1036Gln) c.3054T>A (p.His1018Gln) c.3118-242T>A (n.3118-242T>A) c.2361T>A (p.His787Gln) c.2274T>A (p.His758Gln) n.3550T>A | dbSNP |
17 | g.39727447T>C | CA499671682 | ERBB2 | c.3312T>C (p.His1104=) c.3222T>C (p.His1074=) c.2484T>C (p.His828=) c.3267T>C (p.His1089=) c.*3102T>C (n.*3102T>C) c.3160-242T>C (n.3160-242T>C) n.3636T>C c.3450T>C (p.His1150=) c.3405T>C (p.His1135=) c.3360T>C (p.His1120=) c.3429T>C (p.His1143=) c.3414T>C (p.His1138=) c.3393T>C (p.His1131=) c.3387T>C (p.His1129=) c.3342T>C (p.His1114=) c.3333T>C (p.His1111=) c.3309T>C (p.His1103=) c.3303T>C (p.His1101=) c.3276T>C (p.His1092=) c.3270T>C (p.His1090=) c.3264T>C (p.His1088=) c.3225T>C (p.His1075=) c.3213T>C (p.His1071=) c.3156T>C (p.His1052=) c.3132T>C (p.His1044=) c.3126T>C (p.His1042=) c.3108T>C (p.His1036=) c.3054T>C (p.His1018=) c.3118-242T>C (n.3118-242T>C) c.2361T>C (p.His787=) c.2274T>C (p.His758=) n.3550T>C | dbSNP |
17 | g.39727447T>G | CA399310956 | ERBB2 | c.3312T>G (p.His1104Gln) c.3222T>G (p.His1074Gln) c.2484T>G (p.His828Gln) c.3267T>G (p.His1089Gln) c.*3102T>G (n.*3102T>G) c.3160-242T>G (n.3160-242T>G) n.3636T>G c.3450T>G (p.His1150Gln) c.3405T>G (p.His1135Gln) c.3360T>G (p.His1120Gln) c.3429T>G (p.His1143Gln) c.3414T>G (p.His1138Gln) c.3393T>G (p.His1131Gln) c.3387T>G (p.His1129Gln) c.3342T>G (p.His1114Gln) c.3333T>G (p.His1111Gln) c.3309T>G (p.His1103Gln) c.3303T>G (p.His1101Gln) c.3276T>G (p.His1092Gln) c.3270T>G (p.His1090Gln) c.3264T>G (p.His1088Gln) c.3225T>G (p.His1075Gln) c.3213T>G (p.His1071Gln) c.3156T>G (p.His1052Gln) c.3132T>G (p.His1044Gln) c.3126T>G (p.His1042Gln) c.3108T>G (p.His1036Gln) c.3054T>G (p.His1018Gln) c.3118-242T>G (n.3118-242T>G) c.2361T>G (p.His787Gln) c.2274T>G (p.His758Gln) n.3550T>G | dbSNP |
17 | g.39727448G>A | CA290443393 | ERBB2 | c.3313G>A (p.Asp1105Asn) c.3223G>A (p.Asp1075Asn) c.2485G>A (p.Asp829Asn) c.3268G>A (p.Asp1090Asn) c.*3103G>A (n.*3103G>A) c.3160-241G>A (n.3160-241G>A) n.3637G>A c.3451G>A (p.Asp1151Asn) c.3406G>A (p.Asp1136Asn) c.3361G>A (p.Asp1121Asn) c.3430G>A (p.Asp1144Asn) c.3415G>A (p.Asp1139Asn) c.3394G>A (p.Asp1132Asn) c.3388G>A (p.Asp1130Asn) c.3343G>A (p.Asp1115Asn) c.3334G>A (p.Asp1112Asn) c.3310G>A (p.Asp1104Asn) c.3304G>A (p.Asp1102Asn) c.3277G>A (p.Asp1093Asn) c.3271G>A (p.Asp1091Asn) c.3265G>A (p.Asp1089Asn) c.3226G>A (p.Asp1076Asn) c.3214G>A (p.Asp1072Asn) c.3157G>A (p.Asp1053Asn) c.3133G>A (p.Asp1045Asn) c.3127G>A (p.Asp1043Asn) c.3109G>A (p.Asp1037Asn) c.3055G>A (p.Asp1019Asn) c.3118-241G>A (n.3118-241G>A) c.2362G>A (p.Asp788Asn) c.2275G>A (p.Asp759Asn) n.3551G>A | dbSNP |
17 | g.39727448G>C | CA399310971 | ERBB2 | c.3313G>C (p.Asp1105His) c.3223G>C (p.Asp1075His) c.2485G>C (p.Asp829His) c.3268G>C (p.Asp1090His) c.*3103G>C (n.*3103G>C) c.3160-241G>C (n.3160-241G>C) n.3637G>C c.3451G>C (p.Asp1151His) c.3406G>C (p.Asp1136His) c.3361G>C (p.Asp1121His) c.3430G>C (p.Asp1144His) c.3415G>C (p.Asp1139His) c.3394G>C (p.Asp1132His) c.3388G>C (p.Asp1130His) c.3343G>C (p.Asp1115His) c.3334G>C (p.Asp1112His) c.3310G>C (p.Asp1104His) c.3304G>C (p.Asp1102His) c.3277G>C (p.Asp1093His) c.3271G>C (p.Asp1091His) c.3265G>C (p.Asp1089His) c.3226G>C (p.Asp1076His) c.3214G>C (p.Asp1072His) c.3157G>C (p.Asp1053His) c.3133G>C (p.Asp1045His) c.3127G>C (p.Asp1043His) c.3109G>C (p.Asp1037His) c.3055G>C (p.Asp1019His) c.3118-241G>C (n.3118-241G>C) c.2362G>C (p.Asp788His) c.2275G>C (p.Asp759His) n.3551G>C | dbSNP |
17 | g.39727448G= | CA2259228812 | ERBB2 | c.3313G= (p.Asp1105=) c.3223G= (p.Asp1075=) c.2485G= (p.Asp829=) c.3268G= (p.Asp1090=) c.*3103G= (n.*3103G=) c.3160-241G= (n.3160-241G=) n.3637G= c.3451G= (p.Asp1151=) c.3406G= (p.Asp1136=) c.3361G= (p.Asp1121=) c.3430G= (p.Asp1144=) c.3415G= (p.Asp1139=) c.3394G= (p.Asp1132=) c.3388G= (p.Asp1130=) c.3343G= (p.Asp1115=) c.3334G= (p.Asp1112=) c.3310G= (p.Asp1104=) c.3304G= (p.Asp1102=) c.3277G= (p.Asp1093=) c.3271G= (p.Asp1091=) c.3265G= (p.Asp1089=) c.3226G= (p.Asp1076=) c.3214G= (p.Asp1072=) c.3157G= (p.Asp1053=) c.3133G= (p.Asp1045=) c.3127G= (p.Asp1043=) c.3109G= (p.Asp1037=) c.3055G= (p.Asp1019=) c.3118-241G= (n.3118-241G=) c.2362G= (p.Asp788=) c.2275G= (p.Asp759=) n.3551G= | |
17 | g.39727448G>T | CA399310975 | ERBB2 | c.3313G>T (p.Asp1105Tyr) c.3223G>T (p.Asp1075Tyr) c.2485G>T (p.Asp829Tyr) c.3268G>T (p.Asp1090Tyr) c.*3103G>T (n.*3103G>T) c.3160-241G>T (n.3160-241G>T) n.3637G>T c.3451G>T (p.Asp1151Tyr) c.3406G>T (p.Asp1136Tyr) c.3361G>T (p.Asp1121Tyr) c.3430G>T (p.Asp1144Tyr) c.3415G>T (p.Asp1139Tyr) c.3394G>T (p.Asp1132Tyr) c.3388G>T (p.Asp1130Tyr) c.3343G>T (p.Asp1115Tyr) c.3334G>T (p.Asp1112Tyr) c.3310G>T (p.Asp1104Tyr) c.3304G>T (p.Asp1102Tyr) c.3277G>T (p.Asp1093Tyr) c.3271G>T (p.Asp1091Tyr) c.3265G>T (p.Asp1089Tyr) c.3226G>T (p.Asp1076Tyr) c.3214G>T (p.Asp1072Tyr) c.3157G>T (p.Asp1053Tyr) c.3133G>T (p.Asp1045Tyr) c.3127G>T (p.Asp1043Tyr) c.3109G>T (p.Asp1037Tyr) c.3055G>T (p.Asp1019Tyr) c.3118-241G>T (n.3118-241G>T) c.2362G>T (p.Asp788Tyr) c.2275G>T (p.Asp759Tyr) n.3551G>T | |
17 | g.39727449A>C | CA399310976 | ERBB2 | c.3314A>C (p.Asp1105Ala) c.3224A>C (p.Asp1075Ala) c.2486A>C (p.Asp829Ala) c.3269A>C (p.Asp1090Ala) c.*3104A>C (n.*3104A>C) c.3160-240A>C (n.3160-240A>C) n.3638A>C c.3452A>C (p.Asp1151Ala) c.3407A>C (p.Asp1136Ala) c.3362A>C (p.Asp1121Ala) c.3431A>C (p.Asp1144Ala) c.3416A>C (p.Asp1139Ala) c.3395A>C (p.Asp1132Ala) c.3389A>C (p.Asp1130Ala) c.3344A>C (p.Asp1115Ala) c.3335A>C (p.Asp1112Ala) c.3311A>C (p.Asp1104Ala) c.3305A>C (p.Asp1102Ala) c.3278A>C (p.Asp1093Ala) c.3272A>C (p.Asp1091Ala) c.3266A>C (p.Asp1089Ala) c.3227A>C (p.Asp1076Ala) c.3215A>C (p.Asp1072Ala) c.3158A>C (p.Asp1053Ala) c.3134A>C (p.Asp1045Ala) c.3128A>C (p.Asp1043Ala) c.3110A>C (p.Asp1037Ala) c.3056A>C (p.Asp1019Ala) c.3118-240A>C (n.3118-240A>C) c.2363A>C (p.Asp788Ala) c.2276A>C (p.Asp759Ala) n.3552A>C | |
17 | g.39727449A>G | CA399310977 | ERBB2 | c.3314A>G (p.Asp1105Gly) c.3224A>G (p.Asp1075Gly) c.2486A>G (p.Asp829Gly) c.3269A>G (p.Asp1090Gly) c.*3104A>G (n.*3104A>G) c.3160-240A>G (n.3160-240A>G) n.3638A>G c.3452A>G (p.Asp1151Gly) c.3407A>G (p.Asp1136Gly) c.3362A>G (p.Asp1121Gly) c.3431A>G (p.Asp1144Gly) c.3416A>G (p.Asp1139Gly) c.3395A>G (p.Asp1132Gly) c.3389A>G (p.Asp1130Gly) c.3344A>G (p.Asp1115Gly) c.3335A>G (p.Asp1112Gly) c.3311A>G (p.Asp1104Gly) c.3305A>G (p.Asp1102Gly) c.3278A>G (p.Asp1093Gly) c.3272A>G (p.Asp1091Gly) c.3266A>G (p.Asp1089Gly) c.3227A>G (p.Asp1076Gly) c.3215A>G (p.Asp1072Gly) c.3158A>G (p.Asp1053Gly) c.3134A>G (p.Asp1045Gly) c.3128A>G (p.Asp1043Gly) c.3110A>G (p.Asp1037Gly) c.3056A>G (p.Asp1019Gly) c.3118-240A>G (n.3118-240A>G) c.2363A>G (p.Asp788Gly) c.2276A>G (p.Asp759Gly) n.3552A>G | |
17 | g.39727449A>T | CA399310979 | ERBB2 | c.3314A>T (p.Asp1105Val) c.3224A>T (p.Asp1075Val) c.2486A>T (p.Asp829Val) c.3269A>T (p.Asp1090Val) c.*3104A>T (n.*3104A>T) c.3160-240A>T (n.3160-240A>T) n.3638A>T c.3452A>T (p.Asp1151Val) c.3407A>T (p.Asp1136Val) c.3362A>T (p.Asp1121Val) c.3431A>T (p.Asp1144Val) c.3416A>T (p.Asp1139Val) c.3395A>T (p.Asp1132Val) c.3389A>T (p.Asp1130Val) c.3344A>T (p.Asp1115Val) c.3335A>T (p.Asp1112Val) c.3311A>T (p.Asp1104Val) c.3305A>T (p.Asp1102Val) c.3278A>T (p.Asp1093Val) c.3272A>T (p.Asp1091Val) c.3266A>T (p.Asp1089Val) c.3227A>T (p.Asp1076Val) c.3215A>T (p.Asp1072Val) c.3158A>T (p.Asp1053Val) c.3134A>T (p.Asp1045Val) c.3128A>T (p.Asp1043Val) c.3110A>T (p.Asp1037Val) c.3056A>T (p.Asp1019Val) c.3118-240A>T (n.3118-240A>T) c.2363A>T (p.Asp788Val) c.2276A>T (p.Asp759Val) n.3552A>T | dbSNP |
17 | g.39727450C>A | CA399310983 | ERBB2 | c.3315C>A (p.Asp1105Glu) c.3225C>A (p.Asp1075Glu) c.2487C>A (p.Asp829Glu) c.3270C>A (p.Asp1090Glu) c.*3105C>A (n.*3105C>A) c.3160-239C>A (n.3160-239C>A) n.3639C>A c.3453C>A (p.Asp1151Glu) c.3408C>A (p.Asp1136Glu) c.3363C>A (p.Asp1121Glu) c.3432C>A (p.Asp1144Glu) c.3417C>A (p.Asp1139Glu) c.3396C>A (p.Asp1132Glu) c.3390C>A (p.Asp1130Glu) c.3345C>A (p.Asp1115Glu) c.3336C>A (p.Asp1112Glu) c.3312C>A (p.Asp1104Glu) c.3306C>A (p.Asp1102Glu) c.3279C>A (p.Asp1093Glu) c.3273C>A (p.Asp1091Glu) c.3267C>A (p.Asp1089Glu) c.3228C>A (p.Asp1076Glu) c.3216C>A (p.Asp1072Glu) c.3159C>A (p.Asp1053Glu) c.3135C>A (p.Asp1045Glu) c.3129C>A (p.Asp1043Glu) c.3111C>A (p.Asp1037Glu) c.3057C>A (p.Asp1019Glu) c.3118-239C>A (n.3118-239C>A) c.2364C>A (p.Asp788Glu) c.2277C>A (p.Asp759Glu) n.3553C>A | dbSNP |
17 | g.39727450C= | CA2259228814 | ERBB2 | c.3315C= (p.Asp1105=) c.3225C= (p.Asp1075=) c.2487C= (p.Asp829=) c.3270C= (p.Asp1090=) c.*3105C= (n.*3105C=) c.3160-239C= (n.3160-239C=) n.3639C= c.3453C= (p.Asp1151=) c.3408C= (p.Asp1136=) c.3363C= (p.Asp1121=) c.3432C= (p.Asp1144=) c.3417C= (p.Asp1139=) c.3396C= (p.Asp1132=) c.3390C= (p.Asp1130=) c.3345C= (p.Asp1115=) c.3336C= (p.Asp1112=) c.3312C= (p.Asp1104=) c.3306C= (p.Asp1102=) c.3279C= (p.Asp1093=) c.3273C= (p.Asp1091=) c.3267C= (p.Asp1089=) c.3228C= (p.Asp1076=) c.3216C= (p.Asp1072=) c.3159C= (p.Asp1053=) c.3135C= (p.Asp1045=) c.3129C= (p.Asp1043=) c.3111C= (p.Asp1037=) c.3057C= (p.Asp1019=) c.3118-239C= (n.3118-239C=) c.2364C= (p.Asp788=) c.2277C= (p.Asp759=) n.3553C= | |
17 | g.39727450C>G | CA399310988 | ERBB2 | c.3315C>G (p.Asp1105Glu) c.3225C>G (p.Asp1075Glu) c.2487C>G (p.Asp829Glu) c.3270C>G (p.Asp1090Glu) c.*3105C>G (n.*3105C>G) c.3160-239C>G (n.3160-239C>G) n.3639C>G c.3453C>G (p.Asp1151Glu) c.3408C>G (p.Asp1136Glu) c.3363C>G (p.Asp1121Glu) c.3432C>G (p.Asp1144Glu) c.3417C>G (p.Asp1139Glu) c.3396C>G (p.Asp1132Glu) c.3390C>G (p.Asp1130Glu) c.3345C>G (p.Asp1115Glu) c.3336C>G (p.Asp1112Glu) c.3312C>G (p.Asp1104Glu) c.3306C>G (p.Asp1102Glu) c.3279C>G (p.Asp1093Glu) c.3273C>G (p.Asp1091Glu) c.3267C>G (p.Asp1089Glu) c.3228C>G (p.Asp1076Glu) c.3216C>G (p.Asp1072Glu) c.3159C>G (p.Asp1053Glu) c.3135C>G (p.Asp1045Glu) c.3129C>G (p.Asp1043Glu) c.3111C>G (p.Asp1037Glu) c.3057C>G (p.Asp1019Glu) c.3118-239C>G (n.3118-239C>G) c.2364C>G (p.Asp788Glu) c.2277C>G (p.Asp759Glu) n.3553C>G | dbSNP |
17 | g.39727450C>T | CA8534522 | ERBB2 | c.3315C>T (p.Asp1105=) c.3225C>T (p.Asp1075=) c.2487C>T (p.Asp829=) c.3270C>T (p.Asp1090=) c.*3105C>T (n.*3105C>T) c.3160-239C>T (n.3160-239C>T) n.3639C>T c.3453C>T (p.Asp1151=) c.3408C>T (p.Asp1136=) c.3363C>T (p.Asp1121=) c.3432C>T (p.Asp1144=) c.3417C>T (p.Asp1139=) c.3396C>T (p.Asp1132=) c.3390C>T (p.Asp1130=) c.3345C>T (p.Asp1115=) c.3336C>T (p.Asp1112=) c.3312C>T (p.Asp1104=) c.3306C>T (p.Asp1102=) c.3279C>T (p.Asp1093=) c.3273C>T (p.Asp1091=) c.3267C>T (p.Asp1089=) c.3228C>T (p.Asp1076=) c.3216C>T (p.Asp1072=) c.3159C>T (p.Asp1053=) c.3135C>T (p.Asp1045=) c.3129C>T (p.Asp1043=) c.3111C>T (p.Asp1037=) c.3057C>T (p.Asp1019=) c.3118-239C>T (n.3118-239C>T) c.2364C>T (p.Asp788=) c.2277C>T (p.Asp759=) n.3553C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727451C>A | CA399311000 | ERBB2 | c.3316C>A (p.Pro1106Thr) c.3226C>A (p.Pro1076Thr) c.2488C>A (p.Pro830Thr) c.3271C>A (p.Pro1091Thr) c.*3106C>A (n.*3106C>A) c.3160-238C>A (n.3160-238C>A) n.3640C>A c.3454C>A (p.Pro1152Thr) c.3409C>A (p.Pro1137Thr) c.3364C>A (p.Pro1122Thr) c.3433C>A (p.Pro1145Thr) c.3418C>A (p.Pro1140Thr) c.3397C>A (p.Pro1133Thr) c.3391C>A (p.Pro1131Thr) c.3346C>A (p.Pro1116Thr) c.3337C>A (p.Pro1113Thr) c.3313C>A (p.Pro1105Thr) c.3307C>A (p.Pro1103Thr) c.3280C>A (p.Pro1094Thr) c.3274C>A (p.Pro1092Thr) c.3268C>A (p.Pro1090Thr) c.3229C>A (p.Pro1077Thr) c.3217C>A (p.Pro1073Thr) c.3160C>A (p.Pro1054Thr) c.3136C>A (p.Pro1046Thr) c.3130C>A (p.Pro1044Thr) c.3112C>A (p.Pro1038Thr) c.3058C>A (p.Pro1020Thr) c.3118-238C>A (n.3118-238C>A) c.2365C>A (p.Pro789Thr) c.2278C>A (p.Pro760Thr) n.3554C>A | dbSNP |
17 | g.39727451C>G | CA399311004 | ERBB2 | c.3316C>G (p.Pro1106Ala) c.3226C>G (p.Pro1076Ala) c.2488C>G (p.Pro830Ala) c.3271C>G (p.Pro1091Ala) c.*3106C>G (n.*3106C>G) c.3160-238C>G (n.3160-238C>G) n.3640C>G c.3454C>G (p.Pro1152Ala) c.3409C>G (p.Pro1137Ala) c.3364C>G (p.Pro1122Ala) c.3433C>G (p.Pro1145Ala) c.3418C>G (p.Pro1140Ala) c.3397C>G (p.Pro1133Ala) c.3391C>G (p.Pro1131Ala) c.3346C>G (p.Pro1116Ala) c.3337C>G (p.Pro1113Ala) c.3313C>G (p.Pro1105Ala) c.3307C>G (p.Pro1103Ala) c.3280C>G (p.Pro1094Ala) c.3274C>G (p.Pro1092Ala) c.3268C>G (p.Pro1090Ala) c.3229C>G (p.Pro1077Ala) c.3217C>G (p.Pro1073Ala) c.3160C>G (p.Pro1054Ala) c.3136C>G (p.Pro1046Ala) c.3130C>G (p.Pro1044Ala) c.3112C>G (p.Pro1038Ala) c.3058C>G (p.Pro1020Ala) c.3118-238C>G (n.3118-238C>G) c.2365C>G (p.Pro789Ala) c.2278C>G (p.Pro760Ala) n.3554C>G | dbSNP |
17 | g.39727451C>T | CA399310996 | ERBB2 | c.3316C>T (p.Pro1106Ser) c.3226C>T (p.Pro1076Ser) c.2488C>T (p.Pro830Ser) c.3271C>T (p.Pro1091Ser) c.*3106C>T (n.*3106C>T) c.3160-238C>T (n.3160-238C>T) n.3640C>T c.3454C>T (p.Pro1152Ser) c.3409C>T (p.Pro1137Ser) c.3364C>T (p.Pro1122Ser) c.3433C>T (p.Pro1145Ser) c.3418C>T (p.Pro1140Ser) c.3397C>T (p.Pro1133Ser) c.3391C>T (p.Pro1131Ser) c.3346C>T (p.Pro1116Ser) c.3337C>T (p.Pro1113Ser) c.3313C>T (p.Pro1105Ser) c.3307C>T (p.Pro1103Ser) c.3280C>T (p.Pro1094Ser) c.3274C>T (p.Pro1092Ser) c.3268C>T (p.Pro1090Ser) c.3229C>T (p.Pro1077Ser) c.3217C>T (p.Pro1073Ser) c.3160C>T (p.Pro1054Ser) c.3136C>T (p.Pro1046Ser) c.3130C>T (p.Pro1044Ser) c.3112C>T (p.Pro1038Ser) c.3058C>T (p.Pro1020Ser) c.3118-238C>T (n.3118-238C>T) c.2365C>T (p.Pro789Ser) c.2278C>T (p.Pro760Ser) n.3554C>T | dbSNP |
17 | g.39727452C>A | CA399312509 | ERBB2 | c.3317C>A (p.Pro1106His) c.3227C>A (p.Pro1076His) c.2489C>A (p.Pro830His) c.3272C>A (p.Pro1091His) c.*3107C>A (n.*3107C>A) c.3160-237C>A (n.3160-237C>A) n.3641C>A c.3455C>A (p.Pro1152His) c.3410C>A (p.Pro1137His) c.3365C>A (p.Pro1122His) c.3434C>A (p.Pro1145His) c.3419C>A (p.Pro1140His) c.3398C>A (p.Pro1133His) c.3392C>A (p.Pro1131His) c.3347C>A (p.Pro1116His) c.3338C>A (p.Pro1113His) c.3314C>A (p.Pro1105His) c.3308C>A (p.Pro1103His) c.3281C>A (p.Pro1094His) c.3275C>A (p.Pro1092His) c.3269C>A (p.Pro1090His) c.3230C>A (p.Pro1077His) c.3218C>A (p.Pro1073His) c.3161C>A (p.Pro1054His) c.3137C>A (p.Pro1046His) c.3131C>A (p.Pro1044His) c.3113C>A (p.Pro1038His) c.3059C>A (p.Pro1020His) c.3118-237C>A (n.3118-237C>A) c.2366C>A (p.Pro789His) c.2279C>A (p.Pro760His) n.3555C>A | dbSNP |
17 | g.39727452C>G | CA399312507 | ERBB2 | c.3317C>G (p.Pro1106Arg) c.3227C>G (p.Pro1076Arg) c.2489C>G (p.Pro830Arg) c.3272C>G (p.Pro1091Arg) c.*3107C>G (n.*3107C>G) c.3160-237C>G (n.3160-237C>G) n.3641C>G c.3455C>G (p.Pro1152Arg) c.3410C>G (p.Pro1137Arg) c.3365C>G (p.Pro1122Arg) c.3434C>G (p.Pro1145Arg) c.3419C>G (p.Pro1140Arg) c.3398C>G (p.Pro1133Arg) c.3392C>G (p.Pro1131Arg) c.3347C>G (p.Pro1116Arg) c.3338C>G (p.Pro1113Arg) c.3314C>G (p.Pro1105Arg) c.3308C>G (p.Pro1103Arg) c.3281C>G (p.Pro1094Arg) c.3275C>G (p.Pro1092Arg) c.3269C>G (p.Pro1090Arg) c.3230C>G (p.Pro1077Arg) c.3218C>G (p.Pro1073Arg) c.3161C>G (p.Pro1054Arg) c.3137C>G (p.Pro1046Arg) c.3131C>G (p.Pro1044Arg) c.3113C>G (p.Pro1038Arg) c.3059C>G (p.Pro1020Arg) c.3118-237C>G (n.3118-237C>G) c.2366C>G (p.Pro789Arg) c.2279C>G (p.Pro760Arg) n.3555C>G | dbSNP |
17 | g.39727452C>T | CA399312508 | ERBB2 | c.3317C>T (p.Pro1106Leu) c.3227C>T (p.Pro1076Leu) c.2489C>T (p.Pro830Leu) c.3272C>T (p.Pro1091Leu) c.*3107C>T (n.*3107C>T) c.3160-237C>T (n.3160-237C>T) n.3641C>T c.3455C>T (p.Pro1152Leu) c.3410C>T (p.Pro1137Leu) c.3365C>T (p.Pro1122Leu) c.3434C>T (p.Pro1145Leu) c.3419C>T (p.Pro1140Leu) c.3398C>T (p.Pro1133Leu) c.3392C>T (p.Pro1131Leu) c.3347C>T (p.Pro1116Leu) c.3338C>T (p.Pro1113Leu) c.3314C>T (p.Pro1105Leu) c.3308C>T (p.Pro1103Leu) c.3281C>T (p.Pro1094Leu) c.3275C>T (p.Pro1092Leu) c.3269C>T (p.Pro1090Leu) c.3230C>T (p.Pro1077Leu) c.3218C>T (p.Pro1073Leu) c.3161C>T (p.Pro1054Leu) c.3137C>T (p.Pro1046Leu) c.3131C>T (p.Pro1044Leu) c.3113C>T (p.Pro1038Leu) c.3059C>T (p.Pro1020Leu) c.3118-237C>T (n.3118-237C>T) c.2366C>T (p.Pro789Leu) c.2279C>T (p.Pro760Leu) n.3555C>T | dbSNP |
17 | g.39727453C>A | CA499890235 | ERBB2 | c.3318C>A (p.Pro1106=) c.3228C>A (p.Pro1076=) c.2490C>A (p.Pro830=) c.3273C>A (p.Pro1091=) c.*3108C>A (n.*3108C>A) c.3160-236C>A (n.3160-236C>A) n.3642C>A c.3456C>A (p.Pro1152=) c.3411C>A (p.Pro1137=) c.3366C>A (p.Pro1122=) c.3435C>A (p.Pro1145=) c.3420C>A (p.Pro1140=) c.3399C>A (p.Pro1133=) c.3393C>A (p.Pro1131=) c.3348C>A (p.Pro1116=) c.3339C>A (p.Pro1113=) c.3315C>A (p.Pro1105=) c.3309C>A (p.Pro1103=) c.3282C>A (p.Pro1094=) c.3276C>A (p.Pro1092=) c.3270C>A (p.Pro1090=) c.3231C>A (p.Pro1077=) c.3219C>A (p.Pro1073=) c.3162C>A (p.Pro1054=) c.3138C>A (p.Pro1046=) c.3132C>A (p.Pro1044=) c.3114C>A (p.Pro1038=) c.3060C>A (p.Pro1020=) c.3118-236C>A (n.3118-236C>A) c.2367C>A (p.Pro789=) c.2280C>A (p.Pro760=) n.3556C>A | dbSNP |
17 | g.39727453C= | CA2259228816 | ERBB2 | c.3318C= (p.Pro1106=) c.3228C= (p.Pro1076=) c.2490C= (p.Pro830=) c.3273C= (p.Pro1091=) c.*3108C= (n.*3108C=) c.3160-236C= (n.3160-236C=) n.3642C= c.3456C= (p.Pro1152=) c.3411C= (p.Pro1137=) c.3366C= (p.Pro1122=) c.3435C= (p.Pro1145=) c.3420C= (p.Pro1140=) c.3399C= (p.Pro1133=) c.3393C= (p.Pro1131=) c.3348C= (p.Pro1116=) c.3339C= (p.Pro1113=) c.3315C= (p.Pro1105=) c.3309C= (p.Pro1103=) c.3282C= (p.Pro1094=) c.3276C= (p.Pro1092=) c.3270C= (p.Pro1090=) c.3231C= (p.Pro1077=) c.3219C= (p.Pro1073=) c.3162C= (p.Pro1054=) c.3138C= (p.Pro1046=) c.3132C= (p.Pro1044=) c.3114C= (p.Pro1038=) c.3060C= (p.Pro1020=) c.3118-236C= (n.3118-236C=) c.2367C= (p.Pro789=) c.2280C= (p.Pro760=) n.3556C= | |
17 | g.39727453C>G | CA499890236 | ERBB2 | c.3318C>G (p.Pro1106=) c.3228C>G (p.Pro1076=) c.2490C>G (p.Pro830=) c.3273C>G (p.Pro1091=) c.*3108C>G (n.*3108C>G) c.3160-236C>G (n.3160-236C>G) n.3642C>G c.3456C>G (p.Pro1152=) c.3411C>G (p.Pro1137=) c.3366C>G (p.Pro1122=) c.3435C>G (p.Pro1145=) c.3420C>G (p.Pro1140=) c.3399C>G (p.Pro1133=) c.3393C>G (p.Pro1131=) c.3348C>G (p.Pro1116=) c.3339C>G (p.Pro1113=) c.3315C>G (p.Pro1105=) c.3309C>G (p.Pro1103=) c.3282C>G (p.Pro1094=) c.3276C>G (p.Pro1092=) c.3270C>G (p.Pro1090=) c.3231C>G (p.Pro1077=) c.3219C>G (p.Pro1073=) c.3162C>G (p.Pro1054=) c.3138C>G (p.Pro1046=) c.3132C>G (p.Pro1044=) c.3114C>G (p.Pro1038=) c.3060C>G (p.Pro1020=) c.3118-236C>G (n.3118-236C>G) c.2367C>G (p.Pro789=) c.2280C>G (p.Pro760=) n.3556C>G | dbSNP |
17 | g.39727453C>T | CA499890237 | ERBB2 | c.3318C>T (p.Pro1106=) c.3228C>T (p.Pro1076=) c.2490C>T (p.Pro830=) c.3273C>T (p.Pro1091=) c.*3108C>T (n.*3108C>T) c.3160-236C>T (n.3160-236C>T) n.3642C>T c.3456C>T (p.Pro1152=) c.3411C>T (p.Pro1137=) c.3366C>T (p.Pro1122=) c.3435C>T (p.Pro1145=) c.3420C>T (p.Pro1140=) c.3399C>T (p.Pro1133=) c.3393C>T (p.Pro1131=) c.3348C>T (p.Pro1116=) c.3339C>T (p.Pro1113=) c.3315C>T (p.Pro1105=) c.3309C>T (p.Pro1103=) c.3282C>T (p.Pro1094=) c.3276C>T (p.Pro1092=) c.3270C>T (p.Pro1090=) c.3231C>T (p.Pro1077=) c.3219C>T (p.Pro1073=) c.3162C>T (p.Pro1054=) c.3138C>T (p.Pro1046=) c.3132C>T (p.Pro1044=) c.3114C>T (p.Pro1038=) c.3060C>T (p.Pro1020=) c.3118-236C>T (n.3118-236C>T) c.2367C>T (p.Pro789=) c.2280C>T (p.Pro760=) n.3556C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727454A>C | CA399312510 | ERBB2 | c.3319A>C (p.Ser1107Arg) c.3229A>C (p.Ser1077Arg) c.2491A>C (p.Ser831Arg) c.3274A>C (p.Ser1092Arg) c.*3109A>C (n.*3109A>C) c.3160-235A>C (n.3160-235A>C) n.3643A>C c.3457A>C (p.Ser1153Arg) c.3412A>C (p.Ser1138Arg) c.3367A>C (p.Ser1123Arg) c.3436A>C (p.Ser1146Arg) c.3421A>C (p.Ser1141Arg) c.3400A>C (p.Ser1134Arg) c.3394A>C (p.Ser1132Arg) c.3349A>C (p.Ser1117Arg) c.3340A>C (p.Ser1114Arg) c.3316A>C (p.Ser1106Arg) c.3310A>C (p.Ser1104Arg) c.3283A>C (p.Ser1095Arg) c.3277A>C (p.Ser1093Arg) c.3271A>C (p.Ser1091Arg) c.3232A>C (p.Ser1078Arg) c.3220A>C (p.Ser1074Arg) c.3163A>C (p.Ser1055Arg) c.3139A>C (p.Ser1047Arg) c.3133A>C (p.Ser1045Arg) c.3115A>C (p.Ser1039Arg) c.3061A>C (p.Ser1021Arg) c.3118-235A>C (n.3118-235A>C) c.2368A>C (p.Ser790Arg) c.2281A>C (p.Ser761Arg) n.3557A>C | dbSNP |
17 | g.39727454A>G | CA399312511 | ERBB2 | c.3319A>G (p.Ser1107Gly) c.3229A>G (p.Ser1077Gly) c.2491A>G (p.Ser831Gly) c.3274A>G (p.Ser1092Gly) c.*3109A>G (n.*3109A>G) c.3160-235A>G (n.3160-235A>G) n.3643A>G c.3457A>G (p.Ser1153Gly) c.3412A>G (p.Ser1138Gly) c.3367A>G (p.Ser1123Gly) c.3436A>G (p.Ser1146Gly) c.3421A>G (p.Ser1141Gly) c.3400A>G (p.Ser1134Gly) c.3394A>G (p.Ser1132Gly) c.3349A>G (p.Ser1117Gly) c.3340A>G (p.Ser1114Gly) c.3316A>G (p.Ser1106Gly) c.3310A>G (p.Ser1104Gly) c.3283A>G (p.Ser1095Gly) c.3277A>G (p.Ser1093Gly) c.3271A>G (p.Ser1091Gly) c.3232A>G (p.Ser1078Gly) c.3220A>G (p.Ser1074Gly) c.3163A>G (p.Ser1055Gly) c.3139A>G (p.Ser1047Gly) c.3133A>G (p.Ser1045Gly) c.3115A>G (p.Ser1039Gly) c.3061A>G (p.Ser1021Gly) c.3118-235A>G (n.3118-235A>G) c.2368A>G (p.Ser790Gly) c.2281A>G (p.Ser761Gly) n.3557A>G | gnomAD v4 |
17 | g.39727454A>T | CA399312512 | ERBB2 | c.3319A>T (p.Ser1107Cys) c.3229A>T (p.Ser1077Cys) c.2491A>T (p.Ser831Cys) c.3274A>T (p.Ser1092Cys) c.*3109A>T (n.*3109A>T) c.3160-235A>T (n.3160-235A>T) n.3643A>T c.3457A>T (p.Ser1153Cys) c.3412A>T (p.Ser1138Cys) c.3367A>T (p.Ser1123Cys) c.3436A>T (p.Ser1146Cys) c.3421A>T (p.Ser1141Cys) c.3400A>T (p.Ser1134Cys) c.3394A>T (p.Ser1132Cys) c.3349A>T (p.Ser1117Cys) c.3340A>T (p.Ser1114Cys) c.3316A>T (p.Ser1106Cys) c.3310A>T (p.Ser1104Cys) c.3283A>T (p.Ser1095Cys) c.3277A>T (p.Ser1093Cys) c.3271A>T (p.Ser1091Cys) c.3232A>T (p.Ser1078Cys) c.3220A>T (p.Ser1074Cys) c.3163A>T (p.Ser1055Cys) c.3139A>T (p.Ser1047Cys) c.3133A>T (p.Ser1045Cys) c.3115A>T (p.Ser1039Cys) c.3061A>T (p.Ser1021Cys) c.3118-235A>T (n.3118-235A>T) c.2368A>T (p.Ser790Cys) c.2281A>T (p.Ser761Cys) n.3557A>T | |
17 | g.39727455G>A | CA399312513 | ERBB2 | c.3320G>A (p.Ser1107Asn) c.3230G>A (p.Ser1077Asn) c.2492G>A (p.Ser831Asn) c.3275G>A (p.Ser1092Asn) c.*3110G>A (n.*3110G>A) c.3160-234G>A (n.3160-234G>A) n.3644G>A c.3458G>A (p.Ser1153Asn) c.3413G>A (p.Ser1138Asn) c.3368G>A (p.Ser1123Asn) c.3437G>A (p.Ser1146Asn) c.3422G>A (p.Ser1141Asn) c.3401G>A (p.Ser1134Asn) c.3395G>A (p.Ser1132Asn) c.3350G>A (p.Ser1117Asn) c.3341G>A (p.Ser1114Asn) c.3317G>A (p.Ser1106Asn) c.3311G>A (p.Ser1104Asn) c.3284G>A (p.Ser1095Asn) c.3278G>A (p.Ser1093Asn) c.3272G>A (p.Ser1091Asn) c.3233G>A (p.Ser1078Asn) c.3221G>A (p.Ser1074Asn) c.3164G>A (p.Ser1055Asn) c.3140G>A (p.Ser1047Asn) c.3134G>A (p.Ser1045Asn) c.3116G>A (p.Ser1039Asn) c.3062G>A (p.Ser1021Asn) c.3118-234G>A (n.3118-234G>A) c.2369G>A (p.Ser790Asn) c.2282G>A (p.Ser761Asn) n.3558G>A | dbSNP COSMIC |
17 | g.39727455G>C | CA399312514 | ERBB2 | c.3320G>C (p.Ser1107Thr) c.3230G>C (p.Ser1077Thr) c.2492G>C (p.Ser831Thr) c.3275G>C (p.Ser1092Thr) c.*3110G>C (n.*3110G>C) c.3160-234G>C (n.3160-234G>C) n.3644G>C c.3458G>C (p.Ser1153Thr) c.3413G>C (p.Ser1138Thr) c.3368G>C (p.Ser1123Thr) c.3437G>C (p.Ser1146Thr) c.3422G>C (p.Ser1141Thr) c.3401G>C (p.Ser1134Thr) c.3395G>C (p.Ser1132Thr) c.3350G>C (p.Ser1117Thr) c.3341G>C (p.Ser1114Thr) c.3317G>C (p.Ser1106Thr) c.3311G>C (p.Ser1104Thr) c.3284G>C (p.Ser1095Thr) c.3278G>C (p.Ser1093Thr) c.3272G>C (p.Ser1091Thr) c.3233G>C (p.Ser1078Thr) c.3221G>C (p.Ser1074Thr) c.3164G>C (p.Ser1055Thr) c.3140G>C (p.Ser1047Thr) c.3134G>C (p.Ser1045Thr) c.3116G>C (p.Ser1039Thr) c.3062G>C (p.Ser1021Thr) c.3118-234G>C (n.3118-234G>C) c.2369G>C (p.Ser790Thr) c.2282G>C (p.Ser761Thr) n.3558G>C | dbSNP |
17 | g.39727455G>T | CA399312515 | ERBB2 | c.3320G>T (p.Ser1107Ile) c.3230G>T (p.Ser1077Ile) c.2492G>T (p.Ser831Ile) c.3275G>T (p.Ser1092Ile) c.*3110G>T (n.*3110G>T) c.3160-234G>T (n.3160-234G>T) n.3644G>T c.3458G>T (p.Ser1153Ile) c.3413G>T (p.Ser1138Ile) c.3368G>T (p.Ser1123Ile) c.3437G>T (p.Ser1146Ile) c.3422G>T (p.Ser1141Ile) c.3401G>T (p.Ser1134Ile) c.3395G>T (p.Ser1132Ile) c.3350G>T (p.Ser1117Ile) c.3341G>T (p.Ser1114Ile) c.3317G>T (p.Ser1106Ile) c.3311G>T (p.Ser1104Ile) c.3284G>T (p.Ser1095Ile) c.3278G>T (p.Ser1093Ile) c.3272G>T (p.Ser1091Ile) c.3233G>T (p.Ser1078Ile) c.3221G>T (p.Ser1074Ile) c.3164G>T (p.Ser1055Ile) c.3140G>T (p.Ser1047Ile) c.3134G>T (p.Ser1045Ile) c.3116G>T (p.Ser1039Ile) c.3062G>T (p.Ser1021Ile) c.3118-234G>T (n.3118-234G>T) c.2369G>T (p.Ser790Ile) c.2282G>T (p.Ser761Ile) n.3558G>T | dbSNP |
17 | g.39727456C>A | CA399312516 | ERBB2 | c.3321C>A (p.Ser1107Arg) c.3231C>A (p.Ser1077Arg) c.2493C>A (p.Ser831Arg) c.3276C>A (p.Ser1092Arg) c.*3111C>A (n.*3111C>A) c.3160-233C>A (n.3160-233C>A) n.3645C>A c.3459C>A (p.Ser1153Arg) c.3414C>A (p.Ser1138Arg) c.3369C>A (p.Ser1123Arg) c.3438C>A (p.Ser1146Arg) c.3423C>A (p.Ser1141Arg) c.3402C>A (p.Ser1134Arg) c.3396C>A (p.Ser1132Arg) c.3351C>A (p.Ser1117Arg) c.3342C>A (p.Ser1114Arg) c.3318C>A (p.Ser1106Arg) c.3312C>A (p.Ser1104Arg) c.3285C>A (p.Ser1095Arg) c.3279C>A (p.Ser1093Arg) c.3273C>A (p.Ser1091Arg) c.3234C>A (p.Ser1078Arg) c.3222C>A (p.Ser1074Arg) c.3165C>A (p.Ser1055Arg) c.3141C>A (p.Ser1047Arg) c.3135C>A (p.Ser1045Arg) c.3117C>A (p.Ser1039Arg) c.3063C>A (p.Ser1021Arg) c.3118-233C>A (n.3118-233C>A) c.2370C>A (p.Ser790Arg) c.2283C>A (p.Ser761Arg) n.3559C>A | dbSNP gnomAD v4 |
17 | g.39727456C= | CA2259228818 | ERBB2 | c.3321C= (p.Ser1107=) c.3231C= (p.Ser1077=) c.2493C= (p.Ser831=) c.3276C= (p.Ser1092=) c.*3111C= (n.*3111C=) c.3160-233C= (n.3160-233C=) n.3645C= c.3459C= (p.Ser1153=) c.3414C= (p.Ser1138=) c.3369C= (p.Ser1123=) c.3438C= (p.Ser1146=) c.3423C= (p.Ser1141=) c.3402C= (p.Ser1134=) c.3396C= (p.Ser1132=) c.3351C= (p.Ser1117=) c.3342C= (p.Ser1114=) c.3318C= (p.Ser1106=) c.3312C= (p.Ser1104=) c.3285C= (p.Ser1095=) c.3279C= (p.Ser1093=) c.3273C= (p.Ser1091=) c.3234C= (p.Ser1078=) c.3222C= (p.Ser1074=) c.3165C= (p.Ser1055=) c.3141C= (p.Ser1047=) c.3135C= (p.Ser1045=) c.3117C= (p.Ser1039=) c.3063C= (p.Ser1021=) c.3118-233C= (n.3118-233C=) c.2370C= (p.Ser790=) c.2283C= (p.Ser761=) n.3559C= | |
17 | g.39727456C>G | CA399312517 | ERBB2 | c.3321C>G (p.Ser1107Arg) c.3231C>G (p.Ser1077Arg) c.2493C>G (p.Ser831Arg) c.3276C>G (p.Ser1092Arg) c.*3111C>G (n.*3111C>G) c.3160-233C>G (n.3160-233C>G) n.3645C>G c.3459C>G (p.Ser1153Arg) c.3414C>G (p.Ser1138Arg) c.3369C>G (p.Ser1123Arg) c.3438C>G (p.Ser1146Arg) c.3423C>G (p.Ser1141Arg) c.3402C>G (p.Ser1134Arg) c.3396C>G (p.Ser1132Arg) c.3351C>G (p.Ser1117Arg) c.3342C>G (p.Ser1114Arg) c.3318C>G (p.Ser1106Arg) c.3312C>G (p.Ser1104Arg) c.3285C>G (p.Ser1095Arg) c.3279C>G (p.Ser1093Arg) c.3273C>G (p.Ser1091Arg) c.3234C>G (p.Ser1078Arg) c.3222C>G (p.Ser1074Arg) c.3165C>G (p.Ser1055Arg) c.3141C>G (p.Ser1047Arg) c.3135C>G (p.Ser1045Arg) c.3117C>G (p.Ser1039Arg) c.3063C>G (p.Ser1021Arg) c.3118-233C>G (n.3118-233C>G) c.2370C>G (p.Ser790Arg) c.2283C>G (p.Ser761Arg) n.3559C>G | dbSNP |
17 | g.39727456C>T | CA499890238 | ERBB2 | c.3321C>T (p.Ser1107=) c.3231C>T (p.Ser1077=) c.2493C>T (p.Ser831=) c.3276C>T (p.Ser1092=) c.*3111C>T (n.*3111C>T) c.3160-233C>T (n.3160-233C>T) n.3645C>T c.3459C>T (p.Ser1153=) c.3414C>T (p.Ser1138=) c.3369C>T (p.Ser1123=) c.3438C>T (p.Ser1146=) c.3423C>T (p.Ser1141=) c.3402C>T (p.Ser1134=) c.3396C>T (p.Ser1132=) c.3351C>T (p.Ser1117=) c.3342C>T (p.Ser1114=) c.3318C>T (p.Ser1106=) c.3312C>T (p.Ser1104=) c.3285C>T (p.Ser1095=) c.3279C>T (p.Ser1093=) c.3273C>T (p.Ser1091=) c.3234C>T (p.Ser1078=) c.3222C>T (p.Ser1074=) c.3165C>T (p.Ser1055=) c.3141C>T (p.Ser1047=) c.3135C>T (p.Ser1045=) c.3117C>T (p.Ser1039=) c.3063C>T (p.Ser1021=) c.3118-233C>T (n.3118-233C>T) c.2370C>T (p.Ser790=) c.2283C>T (p.Ser761=) n.3559C>T | dbSNP |
17 | g.39727457C>A | CA399312518 | ERBB2 | c.3322C>A (p.Pro1108Thr) c.3232C>A (p.Pro1078Thr) c.2494C>A (p.Pro832Thr) c.3277C>A (p.Pro1093Thr) c.*3112C>A (n.*3112C>A) c.3160-232C>A (n.3160-232C>A) n.3646C>A c.3460C>A (p.Pro1154Thr) c.3415C>A (p.Pro1139Thr) c.3370C>A (p.Pro1124Thr) c.3439C>A (p.Pro1147Thr) c.3424C>A (p.Pro1142Thr) c.3403C>A (p.Pro1135Thr) c.3397C>A (p.Pro1133Thr) c.3352C>A (p.Pro1118Thr) c.3343C>A (p.Pro1115Thr) c.3319C>A (p.Pro1107Thr) c.3313C>A (p.Pro1105Thr) c.3286C>A (p.Pro1096Thr) c.3280C>A (p.Pro1094Thr) c.3274C>A (p.Pro1092Thr) c.3235C>A (p.Pro1079Thr) c.3223C>A (p.Pro1075Thr) c.3166C>A (p.Pro1056Thr) c.3142C>A (p.Pro1048Thr) c.3136C>A (p.Pro1046Thr) c.3118C>A (p.Pro1040Thr) c.3064C>A (p.Pro1022Thr) c.3118-232C>A (n.3118-232C>A) c.2371C>A (p.Pro791Thr) c.2284C>A (p.Pro762Thr) n.3560C>A | dbSNP |
17 | g.39727457C= | CA2259228820 | ERBB2 | c.3322C= (p.Pro1108=) c.3232C= (p.Pro1078=) c.2494C= (p.Pro832=) c.3277C= (p.Pro1093=) c.*3112C= (n.*3112C=) c.3160-232C= (n.3160-232C=) n.3646C= c.3460C= (p.Pro1154=) c.3415C= (p.Pro1139=) c.3370C= (p.Pro1124=) c.3439C= (p.Pro1147=) c.3424C= (p.Pro1142=) c.3403C= (p.Pro1135=) c.3397C= (p.Pro1133=) c.3352C= (p.Pro1118=) c.3343C= (p.Pro1115=) c.3319C= (p.Pro1107=) c.3313C= (p.Pro1105=) c.3286C= (p.Pro1096=) c.3280C= (p.Pro1094=) c.3274C= (p.Pro1092=) c.3235C= (p.Pro1079=) c.3223C= (p.Pro1075=) c.3166C= (p.Pro1056=) c.3142C= (p.Pro1048=) c.3136C= (p.Pro1046=) c.3118C= (p.Pro1040=) c.3064C= (p.Pro1022=) c.3118-232C= (n.3118-232C=) c.2371C= (p.Pro791=) c.2284C= (p.Pro762=) n.3560C= | |
17 | g.39727457C>G | CA399312519 | ERBB2 | c.3322C>G (p.Pro1108Ala) c.3232C>G (p.Pro1078Ala) c.2494C>G (p.Pro832Ala) c.3277C>G (p.Pro1093Ala) c.*3112C>G (n.*3112C>G) c.3160-232C>G (n.3160-232C>G) n.3646C>G c.3460C>G (p.Pro1154Ala) c.3415C>G (p.Pro1139Ala) c.3370C>G (p.Pro1124Ala) c.3439C>G (p.Pro1147Ala) c.3424C>G (p.Pro1142Ala) c.3403C>G (p.Pro1135Ala) c.3397C>G (p.Pro1133Ala) c.3352C>G (p.Pro1118Ala) c.3343C>G (p.Pro1115Ala) c.3319C>G (p.Pro1107Ala) c.3313C>G (p.Pro1105Ala) c.3286C>G (p.Pro1096Ala) c.3280C>G (p.Pro1094Ala) c.3274C>G (p.Pro1092Ala) c.3235C>G (p.Pro1079Ala) c.3223C>G (p.Pro1075Ala) c.3166C>G (p.Pro1056Ala) c.3142C>G (p.Pro1048Ala) c.3136C>G (p.Pro1046Ala) c.3118C>G (p.Pro1040Ala) c.3064C>G (p.Pro1022Ala) c.3118-232C>G (n.3118-232C>G) c.2371C>G (p.Pro791Ala) c.2284C>G (p.Pro762Ala) n.3560C>G | dbSNP |
17 | g.39727457C>T | CA399312520 | ERBB2 | c.3322C>T (p.Pro1108Ser) c.3232C>T (p.Pro1078Ser) c.2494C>T (p.Pro832Ser) c.3277C>T (p.Pro1093Ser) c.*3112C>T (n.*3112C>T) c.3160-232C>T (n.3160-232C>T) n.3646C>T c.3460C>T (p.Pro1154Ser) c.3415C>T (p.Pro1139Ser) c.3370C>T (p.Pro1124Ser) c.3439C>T (p.Pro1147Ser) c.3424C>T (p.Pro1142Ser) c.3403C>T (p.Pro1135Ser) c.3397C>T (p.Pro1133Ser) c.3352C>T (p.Pro1118Ser) c.3343C>T (p.Pro1115Ser) c.3319C>T (p.Pro1107Ser) c.3313C>T (p.Pro1105Ser) c.3286C>T (p.Pro1096Ser) c.3280C>T (p.Pro1094Ser) c.3274C>T (p.Pro1092Ser) c.3235C>T (p.Pro1079Ser) c.3223C>T (p.Pro1075Ser) c.3166C>T (p.Pro1056Ser) c.3142C>T (p.Pro1048Ser) c.3136C>T (p.Pro1046Ser) c.3118C>T (p.Pro1040Ser) c.3064C>T (p.Pro1022Ser) c.3118-232C>T (n.3118-232C>T) c.2371C>T (p.Pro791Ser) c.2284C>T (p.Pro762Ser) n.3560C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727458C>A | CA399312523 | ERBB2 | c.3323C>A (p.Pro1108His) c.3233C>A (p.Pro1078His) c.2495C>A (p.Pro832His) c.3278C>A (p.Pro1093His) c.*3113C>A (n.*3113C>A) c.3160-231C>A (n.3160-231C>A) n.3647C>A c.3461C>A (p.Pro1154His) c.3416C>A (p.Pro1139His) c.3371C>A (p.Pro1124His) c.3440C>A (p.Pro1147His) c.3425C>A (p.Pro1142His) c.3404C>A (p.Pro1135His) c.3398C>A (p.Pro1133His) c.3353C>A (p.Pro1118His) c.3344C>A (p.Pro1115His) c.3320C>A (p.Pro1107His) c.3314C>A (p.Pro1105His) c.3287C>A (p.Pro1096His) c.3281C>A (p.Pro1094His) c.3275C>A (p.Pro1092His) c.3236C>A (p.Pro1079His) c.3224C>A (p.Pro1075His) c.3167C>A (p.Pro1056His) c.3143C>A (p.Pro1048His) c.3137C>A (p.Pro1046His) c.3119C>A (p.Pro1040His) c.3065C>A (p.Pro1022His) c.3118-231C>A (n.3118-231C>A) c.2372C>A (p.Pro791His) c.2285C>A (p.Pro762His) n.3561C>A | dbSNP |
17 | g.39727458C>G | CA399312521 | ERBB2 | c.3323C>G (p.Pro1108Arg) c.3233C>G (p.Pro1078Arg) c.2495C>G (p.Pro832Arg) c.3278C>G (p.Pro1093Arg) c.*3113C>G (n.*3113C>G) c.3160-231C>G (n.3160-231C>G) n.3647C>G c.3461C>G (p.Pro1154Arg) c.3416C>G (p.Pro1139Arg) c.3371C>G (p.Pro1124Arg) c.3440C>G (p.Pro1147Arg) c.3425C>G (p.Pro1142Arg) c.3404C>G (p.Pro1135Arg) c.3398C>G (p.Pro1133Arg) c.3353C>G (p.Pro1118Arg) c.3344C>G (p.Pro1115Arg) c.3320C>G (p.Pro1107Arg) c.3314C>G (p.Pro1105Arg) c.3287C>G (p.Pro1096Arg) c.3281C>G (p.Pro1094Arg) c.3275C>G (p.Pro1092Arg) c.3236C>G (p.Pro1079Arg) c.3224C>G (p.Pro1075Arg) c.3167C>G (p.Pro1056Arg) c.3143C>G (p.Pro1048Arg) c.3137C>G (p.Pro1046Arg) c.3119C>G (p.Pro1040Arg) c.3065C>G (p.Pro1022Arg) c.3118-231C>G (n.3118-231C>G) c.2372C>G (p.Pro791Arg) c.2285C>G (p.Pro762Arg) n.3561C>G | dbSNP |
17 | g.39727458C>T | CA399312522 | ERBB2 | c.3323C>T (p.Pro1108Leu) c.3233C>T (p.Pro1078Leu) c.2495C>T (p.Pro832Leu) c.3278C>T (p.Pro1093Leu) c.*3113C>T (n.*3113C>T) c.3160-231C>T (n.3160-231C>T) n.3647C>T c.3461C>T (p.Pro1154Leu) c.3416C>T (p.Pro1139Leu) c.3371C>T (p.Pro1124Leu) c.3440C>T (p.Pro1147Leu) c.3425C>T (p.Pro1142Leu) c.3404C>T (p.Pro1135Leu) c.3398C>T (p.Pro1133Leu) c.3353C>T (p.Pro1118Leu) c.3344C>T (p.Pro1115Leu) c.3320C>T (p.Pro1107Leu) c.3314C>T (p.Pro1105Leu) c.3287C>T (p.Pro1096Leu) c.3281C>T (p.Pro1094Leu) c.3275C>T (p.Pro1092Leu) c.3236C>T (p.Pro1079Leu) c.3224C>T (p.Pro1075Leu) c.3167C>T (p.Pro1056Leu) c.3143C>T (p.Pro1048Leu) c.3137C>T (p.Pro1046Leu) c.3119C>T (p.Pro1040Leu) c.3065C>T (p.Pro1022Leu) c.3118-231C>T (n.3118-231C>T) c.2372C>T (p.Pro791Leu) c.2285C>T (p.Pro762Leu) n.3561C>T | dbSNP gnomAD v4 |
17 | g.39727459T>A | CA499890239 | ERBB2 | c.3324T>A (p.Pro1108=) c.3234T>A (p.Pro1078=) c.2496T>A (p.Pro832=) c.3279T>A (p.Pro1093=) c.*3114T>A (n.*3114T>A) c.3160-230T>A (n.3160-230T>A) n.3648T>A c.3462T>A (p.Pro1154=) c.3417T>A (p.Pro1139=) c.3372T>A (p.Pro1124=) c.3441T>A (p.Pro1147=) c.3426T>A (p.Pro1142=) c.3405T>A (p.Pro1135=) c.3399T>A (p.Pro1133=) c.3354T>A (p.Pro1118=) c.3345T>A (p.Pro1115=) c.3321T>A (p.Pro1107=) c.3315T>A (p.Pro1105=) c.3288T>A (p.Pro1096=) c.3282T>A (p.Pro1094=) c.3276T>A (p.Pro1092=) c.3237T>A (p.Pro1079=) c.3225T>A (p.Pro1075=) c.3168T>A (p.Pro1056=) c.3144T>A (p.Pro1048=) c.3138T>A (p.Pro1046=) c.3120T>A (p.Pro1040=) c.3066T>A (p.Pro1022=) c.3118-230T>A (n.3118-230T>A) c.2373T>A (p.Pro791=) c.2286T>A (p.Pro762=) n.3562T>A | dbSNP |
17 | g.39727459T>C | CA499890240 | ERBB2 | c.3324T>C (p.Pro1108=) c.3234T>C (p.Pro1078=) c.2496T>C (p.Pro832=) c.3279T>C (p.Pro1093=) c.*3114T>C (n.*3114T>C) c.3160-230T>C (n.3160-230T>C) n.3648T>C c.3462T>C (p.Pro1154=) c.3417T>C (p.Pro1139=) c.3372T>C (p.Pro1124=) c.3441T>C (p.Pro1147=) c.3426T>C (p.Pro1142=) c.3405T>C (p.Pro1135=) c.3399T>C (p.Pro1133=) c.3354T>C (p.Pro1118=) c.3345T>C (p.Pro1115=) c.3321T>C (p.Pro1107=) c.3315T>C (p.Pro1105=) c.3288T>C (p.Pro1096=) c.3282T>C (p.Pro1094=) c.3276T>C (p.Pro1092=) c.3237T>C (p.Pro1079=) c.3225T>C (p.Pro1075=) c.3168T>C (p.Pro1056=) c.3144T>C (p.Pro1048=) c.3138T>C (p.Pro1046=) c.3120T>C (p.Pro1040=) c.3066T>C (p.Pro1022=) c.3118-230T>C (n.3118-230T>C) c.2373T>C (p.Pro791=) c.2286T>C (p.Pro762=) n.3562T>C | dbSNP |
17 | g.39727459T>G | CA499890241 | ERBB2 | c.3324T>G (p.Pro1108=) c.3234T>G (p.Pro1078=) c.2496T>G (p.Pro832=) c.3279T>G (p.Pro1093=) c.*3114T>G (n.*3114T>G) c.3160-230T>G (n.3160-230T>G) n.3648T>G c.3462T>G (p.Pro1154=) c.3417T>G (p.Pro1139=) c.3372T>G (p.Pro1124=) c.3441T>G (p.Pro1147=) c.3426T>G (p.Pro1142=) c.3405T>G (p.Pro1135=) c.3399T>G (p.Pro1133=) c.3354T>G (p.Pro1118=) c.3345T>G (p.Pro1115=) c.3321T>G (p.Pro1107=) c.3315T>G (p.Pro1105=) c.3288T>G (p.Pro1096=) c.3282T>G (p.Pro1094=) c.3276T>G (p.Pro1092=) c.3237T>G (p.Pro1079=) c.3225T>G (p.Pro1075=) c.3168T>G (p.Pro1056=) c.3144T>G (p.Pro1048=) c.3138T>G (p.Pro1046=) c.3120T>G (p.Pro1040=) c.3066T>G (p.Pro1022=) c.3118-230T>G (n.3118-230T>G) c.2373T>G (p.Pro791=) c.2286T>G (p.Pro762=) n.3562T>G | |
17 | g.39727460C>A | CA399312524 | ERBB2 | c.3325C>A (p.Leu1109Ile) c.3235C>A (p.Leu1079Ile) c.2497C>A (p.Leu833Ile) c.3280C>A (p.Leu1094Ile) c.*3115C>A (n.*3115C>A) c.3160-229C>A (n.3160-229C>A) n.3649C>A c.3463C>A (p.Leu1155Ile) c.3418C>A (p.Leu1140Ile) c.3373C>A (p.Leu1125Ile) c.3442C>A (p.Leu1148Ile) c.3427C>A (p.Leu1143Ile) c.3406C>A (p.Leu1136Ile) c.3400C>A (p.Leu1134Ile) c.3355C>A (p.Leu1119Ile) c.3346C>A (p.Leu1116Ile) c.3322C>A (p.Leu1108Ile) c.3316C>A (p.Leu1106Ile) c.3289C>A (p.Leu1097Ile) c.3283C>A (p.Leu1095Ile) c.3277C>A (p.Leu1093Ile) c.3238C>A (p.Leu1080Ile) c.3226C>A (p.Leu1076Ile) c.3169C>A (p.Leu1057Ile) c.3145C>A (p.Leu1049Ile) c.3139C>A (p.Leu1047Ile) c.3121C>A (p.Leu1041Ile) c.3067C>A (p.Leu1023Ile) c.3118-229C>A (n.3118-229C>A) c.2374C>A (p.Leu792Ile) c.2287C>A (p.Leu763Ile) n.3563C>A | |
17 | g.39727460C>G | CA399312525 | ERBB2 | c.3325C>G (p.Leu1109Val) c.3235C>G (p.Leu1079Val) c.2497C>G (p.Leu833Val) c.3280C>G (p.Leu1094Val) c.*3115C>G (n.*3115C>G) c.3160-229C>G (n.3160-229C>G) n.3649C>G c.3463C>G (p.Leu1155Val) c.3418C>G (p.Leu1140Val) c.3373C>G (p.Leu1125Val) c.3442C>G (p.Leu1148Val) c.3427C>G (p.Leu1143Val) c.3406C>G (p.Leu1136Val) c.3400C>G (p.Leu1134Val) c.3355C>G (p.Leu1119Val) c.3346C>G (p.Leu1116Val) c.3322C>G (p.Leu1108Val) c.3316C>G (p.Leu1106Val) c.3289C>G (p.Leu1097Val) c.3283C>G (p.Leu1095Val) c.3277C>G (p.Leu1093Val) c.3238C>G (p.Leu1080Val) c.3226C>G (p.Leu1076Val) c.3169C>G (p.Leu1057Val) c.3145C>G (p.Leu1049Val) c.3139C>G (p.Leu1047Val) c.3121C>G (p.Leu1041Val) c.3067C>G (p.Leu1023Val) c.3118-229C>G (n.3118-229C>G) c.2374C>G (p.Leu792Val) c.2287C>G (p.Leu763Val) n.3563C>G | |
17 | g.39727460C>T | CA499890242 | ERBB2 | c.3325C>T (p.Leu1109=) c.3235C>T (p.Leu1079=) c.2497C>T (p.Leu833=) c.3280C>T (p.Leu1094=) c.*3115C>T (n.*3115C>T) c.3160-229C>T (n.3160-229C>T) n.3649C>T c.3463C>T (p.Leu1155=) c.3418C>T (p.Leu1140=) c.3373C>T (p.Leu1125=) c.3442C>T (p.Leu1148=) c.3427C>T (p.Leu1143=) c.3406C>T (p.Leu1136=) c.3400C>T (p.Leu1134=) c.3355C>T (p.Leu1119=) c.3346C>T (p.Leu1116=) c.3322C>T (p.Leu1108=) c.3316C>T (p.Leu1106=) c.3289C>T (p.Leu1097=) c.3283C>T (p.Leu1095=) c.3277C>T (p.Leu1093=) c.3238C>T (p.Leu1080=) c.3226C>T (p.Leu1076=) c.3169C>T (p.Leu1057=) c.3145C>T (p.Leu1049=) c.3139C>T (p.Leu1047=) c.3121C>T (p.Leu1041=) c.3067C>T (p.Leu1023=) c.3118-229C>T (n.3118-229C>T) c.2374C>T (p.Leu792=) c.2287C>T (p.Leu763=) n.3563C>T | |
17 | g.39727461T>A | CA399312526 | ERBB2 | c.3326T>A (p.Leu1109Gln) c.3236T>A (p.Leu1079Gln) c.2498T>A (p.Leu833Gln) c.3281T>A (p.Leu1094Gln) c.*3116T>A (n.*3116T>A) c.3160-228T>A (n.3160-228T>A) n.3650T>A c.3464T>A (p.Leu1155Gln) c.3419T>A (p.Leu1140Gln) c.3374T>A (p.Leu1125Gln) c.3443T>A (p.Leu1148Gln) c.3428T>A (p.Leu1143Gln) c.3407T>A (p.Leu1136Gln) c.3401T>A (p.Leu1134Gln) c.3356T>A (p.Leu1119Gln) c.3347T>A (p.Leu1116Gln) c.3323T>A (p.Leu1108Gln) c.3317T>A (p.Leu1106Gln) c.3290T>A (p.Leu1097Gln) c.3284T>A (p.Leu1095Gln) c.3278T>A (p.Leu1093Gln) c.3239T>A (p.Leu1080Gln) c.3227T>A (p.Leu1076Gln) c.3170T>A (p.Leu1057Gln) c.3146T>A (p.Leu1049Gln) c.3140T>A (p.Leu1047Gln) c.3122T>A (p.Leu1041Gln) c.3068T>A (p.Leu1023Gln) c.3118-228T>A (n.3118-228T>A) c.2375T>A (p.Leu792Gln) c.2288T>A (p.Leu763Gln) n.3564T>A | dbSNP |
17 | g.39727461T>C | CA399312527 | ERBB2 | c.3326T>C (p.Leu1109Pro) c.3236T>C (p.Leu1079Pro) c.2498T>C (p.Leu833Pro) c.3281T>C (p.Leu1094Pro) c.*3116T>C (n.*3116T>C) c.3160-228T>C (n.3160-228T>C) n.3650T>C c.3464T>C (p.Leu1155Pro) c.3419T>C (p.Leu1140Pro) c.3374T>C (p.Leu1125Pro) c.3443T>C (p.Leu1148Pro) c.3428T>C (p.Leu1143Pro) c.3407T>C (p.Leu1136Pro) c.3401T>C (p.Leu1134Pro) c.3356T>C (p.Leu1119Pro) c.3347T>C (p.Leu1116Pro) c.3323T>C (p.Leu1108Pro) c.3317T>C (p.Leu1106Pro) c.3290T>C (p.Leu1097Pro) c.3284T>C (p.Leu1095Pro) c.3278T>C (p.Leu1093Pro) c.3239T>C (p.Leu1080Pro) c.3227T>C (p.Leu1076Pro) c.3170T>C (p.Leu1057Pro) c.3146T>C (p.Leu1049Pro) c.3140T>C (p.Leu1047Pro) c.3122T>C (p.Leu1041Pro) c.3068T>C (p.Leu1023Pro) c.3118-228T>C (n.3118-228T>C) c.2375T>C (p.Leu792Pro) c.2288T>C (p.Leu763Pro) n.3564T>C | dbSNP |
17 | g.39727461T>G | CA399312528 | ERBB2 | c.3326T>G (p.Leu1109Arg) c.3236T>G (p.Leu1079Arg) c.2498T>G (p.Leu833Arg) c.3281T>G (p.Leu1094Arg) c.*3116T>G (n.*3116T>G) c.3160-228T>G (n.3160-228T>G) n.3650T>G c.3464T>G (p.Leu1155Arg) c.3419T>G (p.Leu1140Arg) c.3374T>G (p.Leu1125Arg) c.3443T>G (p.Leu1148Arg) c.3428T>G (p.Leu1143Arg) c.3407T>G (p.Leu1136Arg) c.3401T>G (p.Leu1134Arg) c.3356T>G (p.Leu1119Arg) c.3347T>G (p.Leu1116Arg) c.3323T>G (p.Leu1108Arg) c.3317T>G (p.Leu1106Arg) c.3290T>G (p.Leu1097Arg) c.3284T>G (p.Leu1095Arg) c.3278T>G (p.Leu1093Arg) c.3239T>G (p.Leu1080Arg) c.3227T>G (p.Leu1076Arg) c.3170T>G (p.Leu1057Arg) c.3146T>G (p.Leu1049Arg) c.3140T>G (p.Leu1047Arg) c.3122T>G (p.Leu1041Arg) c.3068T>G (p.Leu1023Arg) c.3118-228T>G (n.3118-228T>G) c.2375T>G (p.Leu792Arg) c.2288T>G (p.Leu763Arg) n.3564T>G | |
17 | g.39727462A>C | CA499890243 | ERBB2 | c.3327A>C (p.Leu1109=) c.3237A>C (p.Leu1079=) c.2499A>C (p.Leu833=) c.3282A>C (p.Leu1094=) c.*3117A>C (n.*3117A>C) c.3160-227A>C (n.3160-227A>C) n.3651A>C c.3465A>C (p.Leu1155=) c.3420A>C (p.Leu1140=) c.3375A>C (p.Leu1125=) c.3444A>C (p.Leu1148=) c.3429A>C (p.Leu1143=) c.3408A>C (p.Leu1136=) c.3402A>C (p.Leu1134=) c.3357A>C (p.Leu1119=) c.3348A>C (p.Leu1116=) c.3324A>C (p.Leu1108=) c.3318A>C (p.Leu1106=) c.3291A>C (p.Leu1097=) c.3285A>C (p.Leu1095=) c.3279A>C (p.Leu1093=) c.3240A>C (p.Leu1080=) c.3228A>C (p.Leu1076=) c.3171A>C (p.Leu1057=) c.3147A>C (p.Leu1049=) c.3141A>C (p.Leu1047=) c.3123A>C (p.Leu1041=) c.3069A>C (p.Leu1023=) c.3118-227A>C (n.3118-227A>C) c.2376A>C (p.Leu792=) c.2289A>C (p.Leu763=) n.3565A>C | dbSNP |
17 | g.39727462A>G | CA499890244 | ERBB2 | c.3327A>G (p.Leu1109=) c.3237A>G (p.Leu1079=) c.2499A>G (p.Leu833=) c.3282A>G (p.Leu1094=) c.*3117A>G (n.*3117A>G) c.3160-227A>G (n.3160-227A>G) n.3651A>G c.3465A>G (p.Leu1155=) c.3420A>G (p.Leu1140=) c.3375A>G (p.Leu1125=) c.3444A>G (p.Leu1148=) c.3429A>G (p.Leu1143=) c.3408A>G (p.Leu1136=) c.3402A>G (p.Leu1134=) c.3357A>G (p.Leu1119=) c.3348A>G (p.Leu1116=) c.3324A>G (p.Leu1108=) c.3318A>G (p.Leu1106=) c.3291A>G (p.Leu1097=) c.3285A>G (p.Leu1095=) c.3279A>G (p.Leu1093=) c.3240A>G (p.Leu1080=) c.3228A>G (p.Leu1076=) c.3171A>G (p.Leu1057=) c.3147A>G (p.Leu1049=) c.3141A>G (p.Leu1047=) c.3123A>G (p.Leu1041=) c.3069A>G (p.Leu1023=) c.3118-227A>G (n.3118-227A>G) c.2376A>G (p.Leu792=) c.2289A>G (p.Leu763=) n.3565A>G | dbSNP |
17 | g.39727462A>T | CA499890245 | ERBB2 | c.3327A>T (p.Leu1109=) c.3237A>T (p.Leu1079=) c.2499A>T (p.Leu833=) c.3282A>T (p.Leu1094=) c.*3117A>T (n.*3117A>T) c.3160-227A>T (n.3160-227A>T) n.3651A>T c.3465A>T (p.Leu1155=) c.3420A>T (p.Leu1140=) c.3375A>T (p.Leu1125=) c.3444A>T (p.Leu1148=) c.3429A>T (p.Leu1143=) c.3408A>T (p.Leu1136=) c.3402A>T (p.Leu1134=) c.3357A>T (p.Leu1119=) c.3348A>T (p.Leu1116=) c.3324A>T (p.Leu1108=) c.3318A>T (p.Leu1106=) c.3291A>T (p.Leu1097=) c.3285A>T (p.Leu1095=) c.3279A>T (p.Leu1093=) c.3240A>T (p.Leu1080=) c.3228A>T (p.Leu1076=) c.3171A>T (p.Leu1057=) c.3147A>T (p.Leu1049=) c.3141A>T (p.Leu1047=) c.3123A>T (p.Leu1041=) c.3069A>T (p.Leu1023=) c.3118-227A>T (n.3118-227A>T) c.2376A>T (p.Leu792=) c.2289A>T (p.Leu763=) n.3565A>T | dbSNP |
17 | g.39727463C>A | CA399312529 | ERBB2 | c.3328C>A (p.Gln1110Lys) c.3238C>A (p.Gln1080Lys) c.2500C>A (p.Gln834Lys) c.3283C>A (p.Gln1095Lys) c.*3118C>A (n.*3118C>A) c.3160-226C>A (n.3160-226C>A) n.3652C>A c.3466C>A (p.Gln1156Lys) c.3421C>A (p.Gln1141Lys) c.3376C>A (p.Gln1126Lys) c.3445C>A (p.Gln1149Lys) c.3430C>A (p.Gln1144Lys) c.3409C>A (p.Gln1137Lys) c.3403C>A (p.Gln1135Lys) c.3358C>A (p.Gln1120Lys) c.3349C>A (p.Gln1117Lys) c.3325C>A (p.Gln1109Lys) c.3319C>A (p.Gln1107Lys) c.3292C>A (p.Gln1098Lys) c.3286C>A (p.Gln1096Lys) c.3280C>A (p.Gln1094Lys) c.3241C>A (p.Gln1081Lys) c.3229C>A (p.Gln1077Lys) c.3172C>A (p.Gln1058Lys) c.3148C>A (p.Gln1050Lys) c.3142C>A (p.Gln1048Lys) c.3124C>A (p.Gln1042Lys) c.3070C>A (p.Gln1024Lys) c.3118-226C>A (n.3118-226C>A) c.2377C>A (p.Gln793Lys) c.2290C>A (p.Gln764Lys) n.3566C>A | dbSNP |
17 | g.39727463C>G | CA399312530 | ERBB2 | c.3328C>G (p.Gln1110Glu) c.3238C>G (p.Gln1080Glu) c.2500C>G (p.Gln834Glu) c.3283C>G (p.Gln1095Glu) c.*3118C>G (n.*3118C>G) c.3160-226C>G (n.3160-226C>G) n.3652C>G c.3466C>G (p.Gln1156Glu) c.3421C>G (p.Gln1141Glu) c.3376C>G (p.Gln1126Glu) c.3445C>G (p.Gln1149Glu) c.3430C>G (p.Gln1144Glu) c.3409C>G (p.Gln1137Glu) c.3403C>G (p.Gln1135Glu) c.3358C>G (p.Gln1120Glu) c.3349C>G (p.Gln1117Glu) c.3325C>G (p.Gln1109Glu) c.3319C>G (p.Gln1107Glu) c.3292C>G (p.Gln1098Glu) c.3286C>G (p.Gln1096Glu) c.3280C>G (p.Gln1094Glu) c.3241C>G (p.Gln1081Glu) c.3229C>G (p.Gln1077Glu) c.3172C>G (p.Gln1058Glu) c.3148C>G (p.Gln1050Glu) c.3142C>G (p.Gln1048Glu) c.3124C>G (p.Gln1042Glu) c.3070C>G (p.Gln1024Glu) c.3118-226C>G (n.3118-226C>G) c.2377C>G (p.Gln793Glu) c.2290C>G (p.Gln764Glu) n.3566C>G | dbSNP |
17 | g.39727463C>T | CA399312531 | ERBB2 | c.3328C>T (p.Gln1110Ter) c.3238C>T (p.Gln1080Ter) c.2500C>T (p.Gln834Ter) c.3283C>T (p.Gln1095Ter) c.*3118C>T (n.*3118C>T) c.3160-226C>T (n.3160-226C>T) n.3652C>T c.3466C>T (p.Gln1156Ter) c.3421C>T (p.Gln1141Ter) c.3376C>T (p.Gln1126Ter) c.3445C>T (p.Gln1149Ter) c.3430C>T (p.Gln1144Ter) c.3409C>T (p.Gln1137Ter) c.3403C>T (p.Gln1135Ter) c.3358C>T (p.Gln1120Ter) c.3349C>T (p.Gln1117Ter) c.3325C>T (p.Gln1109Ter) c.3319C>T (p.Gln1107Ter) c.3292C>T (p.Gln1098Ter) c.3286C>T (p.Gln1096Ter) c.3280C>T (p.Gln1094Ter) c.3241C>T (p.Gln1081Ter) c.3229C>T (p.Gln1077Ter) c.3172C>T (p.Gln1058Ter) c.3148C>T (p.Gln1050Ter) c.3142C>T (p.Gln1048Ter) c.3124C>T (p.Gln1042Ter) c.3070C>T (p.Gln1024Ter) c.3118-226C>T (n.3118-226C>T) c.2377C>T (p.Gln793Ter) c.2290C>T (p.Gln764Ter) n.3566C>T | dbSNP |
17 | g.39727464A>C | CA399312532 | ERBB2 | c.3329A>C (p.Gln1110Pro) c.3239A>C (p.Gln1080Pro) c.2501A>C (p.Gln834Pro) c.3284A>C (p.Gln1095Pro) c.*3119A>C (n.*3119A>C) c.3160-225A>C (n.3160-225A>C) n.3653A>C c.3467A>C (p.Gln1156Pro) c.3422A>C (p.Gln1141Pro) c.3377A>C (p.Gln1126Pro) c.3446A>C (p.Gln1149Pro) c.3431A>C (p.Gln1144Pro) c.3410A>C (p.Gln1137Pro) c.3404A>C (p.Gln1135Pro) c.3359A>C (p.Gln1120Pro) c.3350A>C (p.Gln1117Pro) c.3326A>C (p.Gln1109Pro) c.3320A>C (p.Gln1107Pro) c.3293A>C (p.Gln1098Pro) c.3287A>C (p.Gln1096Pro) c.3281A>C (p.Gln1094Pro) c.3242A>C (p.Gln1081Pro) c.3230A>C (p.Gln1077Pro) c.3173A>C (p.Gln1058Pro) c.3149A>C (p.Gln1050Pro) c.3143A>C (p.Gln1048Pro) c.3125A>C (p.Gln1042Pro) c.3071A>C (p.Gln1024Pro) c.3118-225A>C (n.3118-225A>C) c.2378A>C (p.Gln793Pro) c.2291A>C (p.Gln764Pro) n.3567A>C | dbSNP |
17 | g.39727464A>G | CA399312533 | ERBB2 | c.3329A>G (p.Gln1110Arg) c.3239A>G (p.Gln1080Arg) c.2501A>G (p.Gln834Arg) c.3284A>G (p.Gln1095Arg) c.*3119A>G (n.*3119A>G) c.3160-225A>G (n.3160-225A>G) n.3653A>G c.3467A>G (p.Gln1156Arg) c.3422A>G (p.Gln1141Arg) c.3377A>G (p.Gln1126Arg) c.3446A>G (p.Gln1149Arg) c.3431A>G (p.Gln1144Arg) c.3410A>G (p.Gln1137Arg) c.3404A>G (p.Gln1135Arg) c.3359A>G (p.Gln1120Arg) c.3350A>G (p.Gln1117Arg) c.3326A>G (p.Gln1109Arg) c.3320A>G (p.Gln1107Arg) c.3293A>G (p.Gln1098Arg) c.3287A>G (p.Gln1096Arg) c.3281A>G (p.Gln1094Arg) c.3242A>G (p.Gln1081Arg) c.3230A>G (p.Gln1077Arg) c.3173A>G (p.Gln1058Arg) c.3149A>G (p.Gln1050Arg) c.3143A>G (p.Gln1048Arg) c.3125A>G (p.Gln1042Arg) c.3071A>G (p.Gln1024Arg) c.3118-225A>G (n.3118-225A>G) c.2378A>G (p.Gln793Arg) c.2291A>G (p.Gln764Arg) n.3567A>G | |
17 | g.39727464A>T | CA399312534 | ERBB2 | c.3329A>T (p.Gln1110Leu) c.3239A>T (p.Gln1080Leu) c.2501A>T (p.Gln834Leu) c.3284A>T (p.Gln1095Leu) c.*3119A>T (n.*3119A>T) c.3160-225A>T (n.3160-225A>T) n.3653A>T c.3467A>T (p.Gln1156Leu) c.3422A>T (p.Gln1141Leu) c.3377A>T (p.Gln1126Leu) c.3446A>T (p.Gln1149Leu) c.3431A>T (p.Gln1144Leu) c.3410A>T (p.Gln1137Leu) c.3404A>T (p.Gln1135Leu) c.3359A>T (p.Gln1120Leu) c.3350A>T (p.Gln1117Leu) c.3326A>T (p.Gln1109Leu) c.3320A>T (p.Gln1107Leu) c.3293A>T (p.Gln1098Leu) c.3287A>T (p.Gln1096Leu) c.3281A>T (p.Gln1094Leu) c.3242A>T (p.Gln1081Leu) c.3230A>T (p.Gln1077Leu) c.3173A>T (p.Gln1058Leu) c.3149A>T (p.Gln1050Leu) c.3143A>T (p.Gln1048Leu) c.3125A>T (p.Gln1042Leu) c.3071A>T (p.Gln1024Leu) c.3118-225A>T (n.3118-225A>T) c.2378A>T (p.Gln793Leu) c.2291A>T (p.Gln764Leu) n.3567A>T | dbSNP |
17 | g.39727465G>A | CA499890246 | ERBB2 | c.3330G>A (p.Gln1110=) c.3240G>A (p.Gln1080=) c.2502G>A (p.Gln834=) c.3285G>A (p.Gln1095=) c.*3120G>A (n.*3120G>A) c.3160-224G>A (n.3160-224G>A) n.3654G>A c.3468G>A (p.Gln1156=) c.3423G>A (p.Gln1141=) c.3378G>A (p.Gln1126=) c.3447G>A (p.Gln1149=) c.3432G>A (p.Gln1144=) c.3411G>A (p.Gln1137=) c.3405G>A (p.Gln1135=) c.3360G>A (p.Gln1120=) c.3351G>A (p.Gln1117=) c.3327G>A (p.Gln1109=) c.3321G>A (p.Gln1107=) c.3294G>A (p.Gln1098=) c.3288G>A (p.Gln1096=) c.3282G>A (p.Gln1094=) c.3243G>A (p.Gln1081=) c.3231G>A (p.Gln1077=) c.3174G>A (p.Gln1058=) c.3150G>A (p.Gln1050=) c.3144G>A (p.Gln1048=) c.3126G>A (p.Gln1042=) c.3072G>A (p.Gln1024=) c.3118-224G>A (n.3118-224G>A) c.2379G>A (p.Gln793=) c.2292G>A (p.Gln764=) n.3568G>A | dbSNP |
17 | g.39727465G>C | CA399312537 | ERBB2 | c.3330G>C (p.Gln1110His) c.3240G>C (p.Gln1080His) c.2502G>C (p.Gln834His) c.3285G>C (p.Gln1095His) c.*3120G>C (n.*3120G>C) c.3160-224G>C (n.3160-224G>C) n.3654G>C c.3468G>C (p.Gln1156His) c.3423G>C (p.Gln1141His) c.3378G>C (p.Gln1126His) c.3447G>C (p.Gln1149His) c.3432G>C (p.Gln1144His) c.3411G>C (p.Gln1137His) c.3405G>C (p.Gln1135His) c.3360G>C (p.Gln1120His) c.3351G>C (p.Gln1117His) c.3327G>C (p.Gln1109His) c.3321G>C (p.Gln1107His) c.3294G>C (p.Gln1098His) c.3288G>C (p.Gln1096His) c.3282G>C (p.Gln1094His) c.3243G>C (p.Gln1081His) c.3231G>C (p.Gln1077His) c.3174G>C (p.Gln1058His) c.3150G>C (p.Gln1050His) c.3144G>C (p.Gln1048His) c.3126G>C (p.Gln1042His) c.3072G>C (p.Gln1024His) c.3118-224G>C (n.3118-224G>C) c.2379G>C (p.Gln793His) c.2292G>C (p.Gln764His) n.3568G>C | dbSNP |
17 | g.39727465G>T | CA399312538 | ERBB2 | c.3330G>T (p.Gln1110His) c.3240G>T (p.Gln1080His) c.2502G>T (p.Gln834His) c.3285G>T (p.Gln1095His) c.*3120G>T (n.*3120G>T) c.3160-224G>T (n.3160-224G>T) n.3654G>T c.3468G>T (p.Gln1156His) c.3423G>T (p.Gln1141His) c.3378G>T (p.Gln1126His) c.3447G>T (p.Gln1149His) c.3432G>T (p.Gln1144His) c.3411G>T (p.Gln1137His) c.3405G>T (p.Gln1135His) c.3360G>T (p.Gln1120His) c.3351G>T (p.Gln1117His) c.3327G>T (p.Gln1109His) c.3321G>T (p.Gln1107His) c.3294G>T (p.Gln1098His) c.3288G>T (p.Gln1096His) c.3282G>T (p.Gln1094His) c.3243G>T (p.Gln1081His) c.3231G>T (p.Gln1077His) c.3174G>T (p.Gln1058His) c.3150G>T (p.Gln1050His) c.3144G>T (p.Gln1048His) c.3126G>T (p.Gln1042His) c.3072G>T (p.Gln1024His) c.3118-224G>T (n.3118-224G>T) c.2379G>T (p.Gln793His) c.2292G>T (p.Gln764His) n.3568G>T | dbSNP |
17 | g.39727466C>A | CA499890247 | ERBB2 | c.3331C>A (p.Arg1111=) c.3241C>A (p.Arg1081=) c.2503C>A (p.Arg835=) c.3286C>A (p.Arg1096=) c.*3121C>A (n.*3121C>A) c.3160-223C>A (n.3160-223C>A) n.3655C>A c.3469C>A (p.Arg1157=) c.3424C>A (p.Arg1142=) c.3379C>A (p.Arg1127=) c.3448C>A (p.Arg1150=) c.3433C>A (p.Arg1145=) c.3412C>A (p.Arg1138=) c.3406C>A (p.Arg1136=) c.3361C>A (p.Arg1121=) c.3352C>A (p.Arg1118=) c.3328C>A (p.Arg1110=) c.3322C>A (p.Arg1108=) c.3295C>A (p.Arg1099=) c.3289C>A (p.Arg1097=) c.3283C>A (p.Arg1095=) c.3244C>A (p.Arg1082=) c.3232C>A (p.Arg1078=) c.3175C>A (p.Arg1059=) c.3151C>A (p.Arg1051=) c.3145C>A (p.Arg1049=) c.3127C>A (p.Arg1043=) c.3073C>A (p.Arg1025=) c.3118-223C>A (n.3118-223C>A) c.2380C>A (p.Arg794=) c.2293C>A (p.Arg765=) n.3569C>A | dbSNP |
17 | g.39727466C= | CA2259228822 | ERBB2 | c.3331C= (p.Arg1111=) c.3241C= (p.Arg1081=) c.2503C= (p.Arg835=) c.3286C= (p.Arg1096=) c.*3121C= (n.*3121C=) c.3160-223C= (n.3160-223C=) n.3655C= c.3469C= (p.Arg1157=) c.3424C= (p.Arg1142=) c.3379C= (p.Arg1127=) c.3448C= (p.Arg1150=) c.3433C= (p.Arg1145=) c.3412C= (p.Arg1138=) c.3406C= (p.Arg1136=) c.3361C= (p.Arg1121=) c.3352C= (p.Arg1118=) c.3328C= (p.Arg1110=) c.3322C= (p.Arg1108=) c.3295C= (p.Arg1099=) c.3289C= (p.Arg1097=) c.3283C= (p.Arg1095=) c.3244C= (p.Arg1082=) c.3232C= (p.Arg1078=) c.3175C= (p.Arg1059=) c.3151C= (p.Arg1051=) c.3145C= (p.Arg1049=) c.3127C= (p.Arg1043=) c.3073C= (p.Arg1025=) c.3118-223C= (n.3118-223C=) c.2380C= (p.Arg794=) c.2293C= (p.Arg765=) n.3569C= | |
17 | g.39727466C>G | CA399312540 | ERBB2 | c.3331C>G (p.Arg1111Gly) c.3241C>G (p.Arg1081Gly) c.2503C>G (p.Arg835Gly) c.3286C>G (p.Arg1096Gly) c.*3121C>G (n.*3121C>G) c.3160-223C>G (n.3160-223C>G) n.3655C>G c.3469C>G (p.Arg1157Gly) c.3424C>G (p.Arg1142Gly) c.3379C>G (p.Arg1127Gly) c.3448C>G (p.Arg1150Gly) c.3433C>G (p.Arg1145Gly) c.3412C>G (p.Arg1138Gly) c.3406C>G (p.Arg1136Gly) c.3361C>G (p.Arg1121Gly) c.3352C>G (p.Arg1118Gly) c.3328C>G (p.Arg1110Gly) c.3322C>G (p.Arg1108Gly) c.3295C>G (p.Arg1099Gly) c.3289C>G (p.Arg1097Gly) c.3283C>G (p.Arg1095Gly) c.3244C>G (p.Arg1082Gly) c.3232C>G (p.Arg1078Gly) c.3175C>G (p.Arg1059Gly) c.3151C>G (p.Arg1051Gly) c.3145C>G (p.Arg1049Gly) c.3127C>G (p.Arg1043Gly) c.3073C>G (p.Arg1025Gly) c.3118-223C>G (n.3118-223C>G) c.2380C>G (p.Arg794Gly) c.2293C>G (p.Arg765Gly) n.3569C>G | dbSNP |
17 | g.39727466C>T | CA8534523 | ERBB2 | c.3331C>T (p.Arg1111Trp) c.3241C>T (p.Arg1081Trp) c.2503C>T (p.Arg835Trp) c.3286C>T (p.Arg1096Trp) c.*3121C>T (n.*3121C>T) c.3160-223C>T (n.3160-223C>T) n.3655C>T c.3469C>T (p.Arg1157Trp) c.3424C>T (p.Arg1142Trp) c.3379C>T (p.Arg1127Trp) c.3448C>T (p.Arg1150Trp) c.3433C>T (p.Arg1145Trp) c.3412C>T (p.Arg1138Trp) c.3406C>T (p.Arg1136Trp) c.3361C>T (p.Arg1121Trp) c.3352C>T (p.Arg1118Trp) c.3328C>T (p.Arg1110Trp) c.3322C>T (p.Arg1108Trp) c.3295C>T (p.Arg1099Trp) c.3289C>T (p.Arg1097Trp) c.3283C>T (p.Arg1095Trp) c.3244C>T (p.Arg1082Trp) c.3232C>T (p.Arg1078Trp) c.3175C>T (p.Arg1059Trp) c.3151C>T (p.Arg1051Trp) c.3145C>T (p.Arg1049Trp) c.3127C>T (p.Arg1043Trp) c.3073C>T (p.Arg1025Trp) c.3118-223C>T (n.3118-223C>T) c.2380C>T (p.Arg794Trp) c.2293C>T (p.Arg765Trp) n.3569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727467G>A | CA8534524 | ERBB2 | c.3332G>A (p.Arg1111Gln) c.3242G>A (p.Arg1081Gln) c.2504G>A (p.Arg835Gln) c.3287G>A (p.Arg1096Gln) c.*3122G>A (n.*3122G>A) c.3160-222G>A (n.3160-222G>A) n.3656G>A c.3470G>A (p.Arg1157Gln) c.3425G>A (p.Arg1142Gln) c.3380G>A (p.Arg1127Gln) c.3449G>A (p.Arg1150Gln) c.3434G>A (p.Arg1145Gln) c.3413G>A (p.Arg1138Gln) c.3407G>A (p.Arg1136Gln) c.3362G>A (p.Arg1121Gln) c.3353G>A (p.Arg1118Gln) c.3329G>A (p.Arg1110Gln) c.3323G>A (p.Arg1108Gln) c.3296G>A (p.Arg1099Gln) c.3290G>A (p.Arg1097Gln) c.3284G>A (p.Arg1095Gln) c.3245G>A (p.Arg1082Gln) c.3233G>A (p.Arg1078Gln) c.3176G>A (p.Arg1059Gln) c.3152G>A (p.Arg1051Gln) c.3146G>A (p.Arg1049Gln) c.3128G>A (p.Arg1043Gln) c.3074G>A (p.Arg1025Gln) c.3118-222G>A (n.3118-222G>A) c.2381G>A (p.Arg794Gln) c.2294G>A (p.Arg765Gln) n.3570G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727467G>C | CA399312547 | ERBB2 | c.3332G>C (p.Arg1111Pro) c.3242G>C (p.Arg1081Pro) c.2504G>C (p.Arg835Pro) c.3287G>C (p.Arg1096Pro) c.*3122G>C (n.*3122G>C) c.3160-222G>C (n.3160-222G>C) n.3656G>C c.3470G>C (p.Arg1157Pro) c.3425G>C (p.Arg1142Pro) c.3380G>C (p.Arg1127Pro) c.3449G>C (p.Arg1150Pro) c.3434G>C (p.Arg1145Pro) c.3413G>C (p.Arg1138Pro) c.3407G>C (p.Arg1136Pro) c.3362G>C (p.Arg1121Pro) c.3353G>C (p.Arg1118Pro) c.3329G>C (p.Arg1110Pro) c.3323G>C (p.Arg1108Pro) c.3296G>C (p.Arg1099Pro) c.3290G>C (p.Arg1097Pro) c.3284G>C (p.Arg1095Pro) c.3245G>C (p.Arg1082Pro) c.3233G>C (p.Arg1078Pro) c.3176G>C (p.Arg1059Pro) c.3152G>C (p.Arg1051Pro) c.3146G>C (p.Arg1049Pro) c.3128G>C (p.Arg1043Pro) c.3074G>C (p.Arg1025Pro) c.3118-222G>C (n.3118-222G>C) c.2381G>C (p.Arg794Pro) c.2294G>C (p.Arg765Pro) n.3570G>C | dbSNP |
17 | g.39727467G= | CA2259228823 | ERBB2 | c.3332G= (p.Arg1111=) c.3242G= (p.Arg1081=) c.2504G= (p.Arg835=) c.3287G= (p.Arg1096=) c.*3122G= (n.*3122G=) c.3160-222G= (n.3160-222G=) n.3656G= c.3470G= (p.Arg1157=) c.3425G= (p.Arg1142=) c.3380G= (p.Arg1127=) c.3449G= (p.Arg1150=) c.3434G= (p.Arg1145=) c.3413G= (p.Arg1138=) c.3407G= (p.Arg1136=) c.3362G= (p.Arg1121=) c.3353G= (p.Arg1118=) c.3329G= (p.Arg1110=) c.3323G= (p.Arg1108=) c.3296G= (p.Arg1099=) c.3290G= (p.Arg1097=) c.3284G= (p.Arg1095=) c.3245G= (p.Arg1082=) c.3233G= (p.Arg1078=) c.3176G= (p.Arg1059=) c.3152G= (p.Arg1051=) c.3146G= (p.Arg1049=) c.3128G= (p.Arg1043=) c.3074G= (p.Arg1025=) c.3118-222G= (n.3118-222G=) c.2381G= (p.Arg794=) c.2294G= (p.Arg765=) n.3570G= | |
17 | g.39727467G>T | CA399312545 | ERBB2 | c.3332G>T (p.Arg1111Leu) c.3242G>T (p.Arg1081Leu) c.2504G>T (p.Arg835Leu) c.3287G>T (p.Arg1096Leu) c.*3122G>T (n.*3122G>T) c.3160-222G>T (n.3160-222G>T) n.3656G>T c.3470G>T (p.Arg1157Leu) c.3425G>T (p.Arg1142Leu) c.3380G>T (p.Arg1127Leu) c.3449G>T (p.Arg1150Leu) c.3434G>T (p.Arg1145Leu) c.3413G>T (p.Arg1138Leu) c.3407G>T (p.Arg1136Leu) c.3362G>T (p.Arg1121Leu) c.3353G>T (p.Arg1118Leu) c.3329G>T (p.Arg1110Leu) c.3323G>T (p.Arg1108Leu) c.3296G>T (p.Arg1099Leu) c.3290G>T (p.Arg1097Leu) c.3284G>T (p.Arg1095Leu) c.3245G>T (p.Arg1082Leu) c.3233G>T (p.Arg1078Leu) c.3176G>T (p.Arg1059Leu) c.3152G>T (p.Arg1051Leu) c.3146G>T (p.Arg1049Leu) c.3128G>T (p.Arg1043Leu) c.3074G>T (p.Arg1025Leu) c.3118-222G>T (n.3118-222G>T) c.2381G>T (p.Arg794Leu) c.2294G>T (p.Arg765Leu) n.3570G>T | dbSNP |
17 | g.39727468G>A | CA499890248 | ERBB2 | c.3333G>A (p.Arg1111=) c.3243G>A (p.Arg1081=) c.2505G>A (p.Arg835=) c.3288G>A (p.Arg1096=) c.*3123G>A (n.*3123G>A) c.3160-221G>A (n.3160-221G>A) n.3657G>A c.3471G>A (p.Arg1157=) c.3426G>A (p.Arg1142=) c.3381G>A (p.Arg1127=) c.3450G>A (p.Arg1150=) c.3435G>A (p.Arg1145=) c.3414G>A (p.Arg1138=) c.3408G>A (p.Arg1136=) c.3363G>A (p.Arg1121=) c.3354G>A (p.Arg1118=) c.3330G>A (p.Arg1110=) c.3324G>A (p.Arg1108=) c.3297G>A (p.Arg1099=) c.3291G>A (p.Arg1097=) c.3285G>A (p.Arg1095=) c.3246G>A (p.Arg1082=) c.3234G>A (p.Arg1078=) c.3177G>A (p.Arg1059=) c.3153G>A (p.Arg1051=) c.3147G>A (p.Arg1049=) c.3129G>A (p.Arg1043=) c.3075G>A (p.Arg1025=) c.3118-221G>A (n.3118-221G>A) c.2382G>A (p.Arg794=) c.2295G>A (p.Arg765=) n.3571G>A | dbSNP |
17 | g.39727468G>C | CA499890249 | ERBB2 | c.3333G>C (p.Arg1111=) c.3243G>C (p.Arg1081=) c.2505G>C (p.Arg835=) c.3288G>C (p.Arg1096=) c.*3123G>C (n.*3123G>C) c.3160-221G>C (n.3160-221G>C) n.3657G>C c.3471G>C (p.Arg1157=) c.3426G>C (p.Arg1142=) c.3381G>C (p.Arg1127=) c.3450G>C (p.Arg1150=) c.3435G>C (p.Arg1145=) c.3414G>C (p.Arg1138=) c.3408G>C (p.Arg1136=) c.3363G>C (p.Arg1121=) c.3354G>C (p.Arg1118=) c.3330G>C (p.Arg1110=) c.3324G>C (p.Arg1108=) c.3297G>C (p.Arg1099=) c.3291G>C (p.Arg1097=) c.3285G>C (p.Arg1095=) c.3246G>C (p.Arg1082=) c.3234G>C (p.Arg1078=) c.3177G>C (p.Arg1059=) c.3153G>C (p.Arg1051=) c.3147G>C (p.Arg1049=) c.3129G>C (p.Arg1043=) c.3075G>C (p.Arg1025=) c.3118-221G>C (n.3118-221G>C) c.2382G>C (p.Arg794=) c.2295G>C (p.Arg765=) n.3571G>C | dbSNP |
17 | g.39727468G>T | CA499890250 | ERBB2 | c.3333G>T (p.Arg1111=) c.3243G>T (p.Arg1081=) c.2505G>T (p.Arg835=) c.3288G>T (p.Arg1096=) c.*3123G>T (n.*3123G>T) c.3160-221G>T (n.3160-221G>T) n.3657G>T c.3471G>T (p.Arg1157=) c.3426G>T (p.Arg1142=) c.3381G>T (p.Arg1127=) c.3450G>T (p.Arg1150=) c.3435G>T (p.Arg1145=) c.3414G>T (p.Arg1138=) c.3408G>T (p.Arg1136=) c.3363G>T (p.Arg1121=) c.3354G>T (p.Arg1118=) c.3330G>T (p.Arg1110=) c.3324G>T (p.Arg1108=) c.3297G>T (p.Arg1099=) c.3291G>T (p.Arg1097=) c.3285G>T (p.Arg1095=) c.3246G>T (p.Arg1082=) c.3234G>T (p.Arg1078=) c.3177G>T (p.Arg1059=) c.3153G>T (p.Arg1051=) c.3147G>T (p.Arg1049=) c.3129G>T (p.Arg1043=) c.3075G>T (p.Arg1025=) c.3118-221G>T (n.3118-221G>T) c.2382G>T (p.Arg794=) c.2295G>T (p.Arg765=) n.3571G>T | dbSNP |
17 | g.39727469T>A | CA399312549 | ERBB2 | c.3334T>A (p.Tyr1112Asn) c.3244T>A (p.Tyr1082Asn) c.2506T>A (p.Tyr836Asn) c.3289T>A (p.Tyr1097Asn) c.*3124T>A (n.*3124T>A) c.3160-220T>A (n.3160-220T>A) n.3658T>A c.3472T>A (p.Tyr1158Asn) c.3427T>A (p.Tyr1143Asn) c.3382T>A (p.Tyr1128Asn) c.3451T>A (p.Tyr1151Asn) c.3436T>A (p.Tyr1146Asn) c.3415T>A (p.Tyr1139Asn) c.3409T>A (p.Tyr1137Asn) c.3364T>A (p.Tyr1122Asn) c.3355T>A (p.Tyr1119Asn) c.3331T>A (p.Tyr1111Asn) c.3325T>A (p.Tyr1109Asn) c.3298T>A (p.Tyr1100Asn) c.3292T>A (p.Tyr1098Asn) c.3286T>A (p.Tyr1096Asn) c.3247T>A (p.Tyr1083Asn) c.3235T>A (p.Tyr1079Asn) c.3178T>A (p.Tyr1060Asn) c.3154T>A (p.Tyr1052Asn) c.3148T>A (p.Tyr1050Asn) c.3130T>A (p.Tyr1044Asn) c.3076T>A (p.Tyr1026Asn) c.3118-220T>A (n.3118-220T>A) c.2383T>A (p.Tyr795Asn) c.2296T>A (p.Tyr766Asn) n.3572T>A | |
17 | g.39727469T>C | CA399312551 | ERBB2 | c.3334T>C (p.Tyr1112His) c.3244T>C (p.Tyr1082His) c.2506T>C (p.Tyr836His) c.3289T>C (p.Tyr1097His) c.*3124T>C (n.*3124T>C) c.3160-220T>C (n.3160-220T>C) n.3658T>C c.3472T>C (p.Tyr1158His) c.3427T>C (p.Tyr1143His) c.3382T>C (p.Tyr1128His) c.3451T>C (p.Tyr1151His) c.3436T>C (p.Tyr1146His) c.3415T>C (p.Tyr1139His) c.3409T>C (p.Tyr1137His) c.3364T>C (p.Tyr1122His) c.3355T>C (p.Tyr1119His) c.3331T>C (p.Tyr1111His) c.3325T>C (p.Tyr1109His) c.3298T>C (p.Tyr1100His) c.3292T>C (p.Tyr1098His) c.3286T>C (p.Tyr1096His) c.3247T>C (p.Tyr1083His) c.3235T>C (p.Tyr1079His) c.3178T>C (p.Tyr1060His) c.3154T>C (p.Tyr1052His) c.3148T>C (p.Tyr1050His) c.3130T>C (p.Tyr1044His) c.3076T>C (p.Tyr1026His) c.3118-220T>C (n.3118-220T>C) c.2383T>C (p.Tyr795His) c.2296T>C (p.Tyr766His) n.3572T>C | dbSNP |
17 | g.39727469T>G | CA399312553 | ERBB2 | c.3334T>G (p.Tyr1112Asp) c.3244T>G (p.Tyr1082Asp) c.2506T>G (p.Tyr836Asp) c.3289T>G (p.Tyr1097Asp) c.*3124T>G (n.*3124T>G) c.3160-220T>G (n.3160-220T>G) n.3658T>G c.3472T>G (p.Tyr1158Asp) c.3427T>G (p.Tyr1143Asp) c.3382T>G (p.Tyr1128Asp) c.3451T>G (p.Tyr1151Asp) c.3436T>G (p.Tyr1146Asp) c.3415T>G (p.Tyr1139Asp) c.3409T>G (p.Tyr1137Asp) c.3364T>G (p.Tyr1122Asp) c.3355T>G (p.Tyr1119Asp) c.3331T>G (p.Tyr1111Asp) c.3325T>G (p.Tyr1109Asp) c.3298T>G (p.Tyr1100Asp) c.3292T>G (p.Tyr1098Asp) c.3286T>G (p.Tyr1096Asp) c.3247T>G (p.Tyr1083Asp) c.3235T>G (p.Tyr1079Asp) c.3178T>G (p.Tyr1060Asp) c.3154T>G (p.Tyr1052Asp) c.3148T>G (p.Tyr1050Asp) c.3130T>G (p.Tyr1044Asp) c.3076T>G (p.Tyr1026Asp) c.3118-220T>G (n.3118-220T>G) c.2383T>G (p.Tyr795Asp) c.2296T>G (p.Tyr766Asp) n.3572T>G | dbSNP |
17 | g.39727470A>C | CA399312555 | ERBB2 | c.3335A>C (p.Tyr1112Ser) c.3245A>C (p.Tyr1082Ser) c.2507A>C (p.Tyr836Ser) c.3290A>C (p.Tyr1097Ser) c.*3125A>C (n.*3125A>C) c.3160-219A>C (n.3160-219A>C) n.3659A>C c.3473A>C (p.Tyr1158Ser) c.3428A>C (p.Tyr1143Ser) c.3383A>C (p.Tyr1128Ser) c.3452A>C (p.Tyr1151Ser) c.3437A>C (p.Tyr1146Ser) c.3416A>C (p.Tyr1139Ser) c.3410A>C (p.Tyr1137Ser) c.3365A>C (p.Tyr1122Ser) c.3356A>C (p.Tyr1119Ser) c.3332A>C (p.Tyr1111Ser) c.3326A>C (p.Tyr1109Ser) c.3299A>C (p.Tyr1100Ser) c.3293A>C (p.Tyr1098Ser) c.3287A>C (p.Tyr1096Ser) c.3248A>C (p.Tyr1083Ser) c.3236A>C (p.Tyr1079Ser) c.3179A>C (p.Tyr1060Ser) c.3155A>C (p.Tyr1052Ser) c.3149A>C (p.Tyr1050Ser) c.3131A>C (p.Tyr1044Ser) c.3077A>C (p.Tyr1026Ser) c.3118-219A>C (n.3118-219A>C) c.2384A>C (p.Tyr795Ser) c.2297A>C (p.Tyr766Ser) n.3573A>C | dbSNP |
17 | g.39727470A>G | CA399312557 | ERBB2 | c.3335A>G (p.Tyr1112Cys) c.3245A>G (p.Tyr1082Cys) c.2507A>G (p.Tyr836Cys) c.3290A>G (p.Tyr1097Cys) c.*3125A>G (n.*3125A>G) c.3160-219A>G (n.3160-219A>G) n.3659A>G c.3473A>G (p.Tyr1158Cys) c.3428A>G (p.Tyr1143Cys) c.3383A>G (p.Tyr1128Cys) c.3452A>G (p.Tyr1151Cys) c.3437A>G (p.Tyr1146Cys) c.3416A>G (p.Tyr1139Cys) c.3410A>G (p.Tyr1137Cys) c.3365A>G (p.Tyr1122Cys) c.3356A>G (p.Tyr1119Cys) c.3332A>G (p.Tyr1111Cys) c.3326A>G (p.Tyr1109Cys) c.3299A>G (p.Tyr1100Cys) c.3293A>G (p.Tyr1098Cys) c.3287A>G (p.Tyr1096Cys) c.3248A>G (p.Tyr1083Cys) c.3236A>G (p.Tyr1079Cys) c.3179A>G (p.Tyr1060Cys) c.3155A>G (p.Tyr1052Cys) c.3149A>G (p.Tyr1050Cys) c.3131A>G (p.Tyr1044Cys) c.3077A>G (p.Tyr1026Cys) c.3118-219A>G (n.3118-219A>G) c.2384A>G (p.Tyr795Cys) c.2297A>G (p.Tyr766Cys) n.3573A>G | dbSNP |
17 | g.39727470A>T | CA399312558 | ERBB2 | c.3335A>T (p.Tyr1112Phe) c.3245A>T (p.Tyr1082Phe) c.2507A>T (p.Tyr836Phe) c.3290A>T (p.Tyr1097Phe) c.*3125A>T (n.*3125A>T) c.3160-219A>T (n.3160-219A>T) n.3659A>T c.3473A>T (p.Tyr1158Phe) c.3428A>T (p.Tyr1143Phe) c.3383A>T (p.Tyr1128Phe) c.3452A>T (p.Tyr1151Phe) c.3437A>T (p.Tyr1146Phe) c.3416A>T (p.Tyr1139Phe) c.3410A>T (p.Tyr1137Phe) c.3365A>T (p.Tyr1122Phe) c.3356A>T (p.Tyr1119Phe) c.3332A>T (p.Tyr1111Phe) c.3326A>T (p.Tyr1109Phe) c.3299A>T (p.Tyr1100Phe) c.3293A>T (p.Tyr1098Phe) c.3287A>T (p.Tyr1096Phe) c.3248A>T (p.Tyr1083Phe) c.3236A>T (p.Tyr1079Phe) c.3179A>T (p.Tyr1060Phe) c.3155A>T (p.Tyr1052Phe) c.3149A>T (p.Tyr1050Phe) c.3131A>T (p.Tyr1044Phe) c.3077A>T (p.Tyr1026Phe) c.3118-219A>T (n.3118-219A>T) c.2384A>T (p.Tyr795Phe) c.2297A>T (p.Tyr766Phe) n.3573A>T | dbSNP |
17 | g.39727471C>A | CA399312560 | ERBB2 | c.3336C>A (p.Tyr1112Ter) c.3246C>A (p.Tyr1082Ter) c.2508C>A (p.Tyr836Ter) c.3291C>A (p.Tyr1097Ter) c.*3126C>A (n.*3126C>A) c.3160-218C>A (n.3160-218C>A) n.3660C>A c.3474C>A (p.Tyr1158Ter) c.3429C>A (p.Tyr1143Ter) c.3384C>A (p.Tyr1128Ter) c.3453C>A (p.Tyr1151Ter) c.3438C>A (p.Tyr1146Ter) c.3417C>A (p.Tyr1139Ter) c.3411C>A (p.Tyr1137Ter) c.3366C>A (p.Tyr1122Ter) c.3357C>A (p.Tyr1119Ter) c.3333C>A (p.Tyr1111Ter) c.3327C>A (p.Tyr1109Ter) c.3300C>A (p.Tyr1100Ter) c.3294C>A (p.Tyr1098Ter) c.3288C>A (p.Tyr1096Ter) c.3249C>A (p.Tyr1083Ter) c.3237C>A (p.Tyr1079Ter) c.3180C>A (p.Tyr1060Ter) c.3156C>A (p.Tyr1052Ter) c.3150C>A (p.Tyr1050Ter) c.3132C>A (p.Tyr1044Ter) c.3078C>A (p.Tyr1026Ter) c.3118-218C>A (n.3118-218C>A) c.2385C>A (p.Tyr795Ter) c.2298C>A (p.Tyr766Ter) n.3574C>A | dbSNP |
17 | g.39727471C>G | CA399312562 | ERBB2 | c.3336C>G (p.Tyr1112Ter) c.3246C>G (p.Tyr1082Ter) c.2508C>G (p.Tyr836Ter) c.3291C>G (p.Tyr1097Ter) c.*3126C>G (n.*3126C>G) c.3160-218C>G (n.3160-218C>G) n.3660C>G c.3474C>G (p.Tyr1158Ter) c.3429C>G (p.Tyr1143Ter) c.3384C>G (p.Tyr1128Ter) c.3453C>G (p.Tyr1151Ter) c.3438C>G (p.Tyr1146Ter) c.3417C>G (p.Tyr1139Ter) c.3411C>G (p.Tyr1137Ter) c.3366C>G (p.Tyr1122Ter) c.3357C>G (p.Tyr1119Ter) c.3333C>G (p.Tyr1111Ter) c.3327C>G (p.Tyr1109Ter) c.3300C>G (p.Tyr1100Ter) c.3294C>G (p.Tyr1098Ter) c.3288C>G (p.Tyr1096Ter) c.3249C>G (p.Tyr1083Ter) c.3237C>G (p.Tyr1079Ter) c.3180C>G (p.Tyr1060Ter) c.3156C>G (p.Tyr1052Ter) c.3150C>G (p.Tyr1050Ter) c.3132C>G (p.Tyr1044Ter) c.3078C>G (p.Tyr1026Ter) c.3118-218C>G (n.3118-218C>G) c.2385C>G (p.Tyr795Ter) c.2298C>G (p.Tyr766Ter) n.3574C>G | dbSNP |
17 | g.39727471C>T | CA499890251 | ERBB2 | c.3336C>T (p.Tyr1112=) c.3246C>T (p.Tyr1082=) c.2508C>T (p.Tyr836=) c.3291C>T (p.Tyr1097=) c.*3126C>T (n.*3126C>T) c.3160-218C>T (n.3160-218C>T) n.3660C>T c.3474C>T (p.Tyr1158=) c.3429C>T (p.Tyr1143=) c.3384C>T (p.Tyr1128=) c.3453C>T (p.Tyr1151=) c.3438C>T (p.Tyr1146=) c.3417C>T (p.Tyr1139=) c.3411C>T (p.Tyr1137=) c.3366C>T (p.Tyr1122=) c.3357C>T (p.Tyr1119=) c.3333C>T (p.Tyr1111=) c.3327C>T (p.Tyr1109=) c.3300C>T (p.Tyr1100=) c.3294C>T (p.Tyr1098=) c.3288C>T (p.Tyr1096=) c.3249C>T (p.Tyr1083=) c.3237C>T (p.Tyr1079=) c.3180C>T (p.Tyr1060=) c.3156C>T (p.Tyr1052=) c.3150C>T (p.Tyr1050=) c.3132C>T (p.Tyr1044=) c.3078C>T (p.Tyr1026=) c.3118-218C>T (n.3118-218C>T) c.2385C>T (p.Tyr795=) c.2298C>T (p.Tyr766=) n.3574C>T | dbSNP COSMIC COSMIC |
17 | g.39727472A= | CA2259228825 | ERBB2 | c.3337A= (p.Ser1113=) c.3247A= (p.Ser1083=) c.2509A= (p.Ser837=) c.3292A= (p.Ser1098=) c.*3127A= (n.*3127A=) c.3160-217A= (n.3160-217A=) n.3661A= c.3475A= (p.Ser1159=) c.3430A= (p.Ser1144=) c.3385A= (p.Ser1129=) c.3454A= (p.Ser1152=) c.3439A= (p.Ser1147=) c.3418A= (p.Ser1140=) c.3412A= (p.Ser1138=) c.3367A= (p.Ser1123=) c.3358A= (p.Ser1120=) c.3334A= (p.Ser1112=) c.3328A= (p.Ser1110=) c.3301A= (p.Ser1101=) c.3295A= (p.Ser1099=) c.3289A= (p.Ser1097=) c.3250A= (p.Ser1084=) c.3238A= (p.Ser1080=) c.3181A= (p.Ser1061=) c.3157A= (p.Ser1053=) c.3151A= (p.Ser1051=) c.3133A= (p.Ser1045=) c.3079A= (p.Ser1027=) c.3118-217A= (n.3118-217A=) c.2386A= (p.Ser796=) c.2299A= (p.Ser767=) n.3575A= | |
17 | g.39727472A>C | CA399312564 | ERBB2 | c.3337A>C (p.Ser1113Arg) c.3247A>C (p.Ser1083Arg) c.2509A>C (p.Ser837Arg) c.3292A>C (p.Ser1098Arg) c.*3127A>C (n.*3127A>C) c.3160-217A>C (n.3160-217A>C) n.3661A>C c.3475A>C (p.Ser1159Arg) c.3430A>C (p.Ser1144Arg) c.3385A>C (p.Ser1129Arg) c.3454A>C (p.Ser1152Arg) c.3439A>C (p.Ser1147Arg) c.3418A>C (p.Ser1140Arg) c.3412A>C (p.Ser1138Arg) c.3367A>C (p.Ser1123Arg) c.3358A>C (p.Ser1120Arg) c.3334A>C (p.Ser1112Arg) c.3328A>C (p.Ser1110Arg) c.3301A>C (p.Ser1101Arg) c.3295A>C (p.Ser1099Arg) c.3289A>C (p.Ser1097Arg) c.3250A>C (p.Ser1084Arg) c.3238A>C (p.Ser1080Arg) c.3181A>C (p.Ser1061Arg) c.3157A>C (p.Ser1053Arg) c.3151A>C (p.Ser1051Arg) c.3133A>C (p.Ser1045Arg) c.3079A>C (p.Ser1027Arg) c.3118-217A>C (n.3118-217A>C) c.2386A>C (p.Ser796Arg) c.2299A>C (p.Ser767Arg) n.3575A>C | |
17 | g.39727472A>G | CA8534525 | ERBB2 | c.3337A>G (p.Ser1113Gly) c.3247A>G (p.Ser1083Gly) c.2509A>G (p.Ser837Gly) c.3292A>G (p.Ser1098Gly) c.*3127A>G (n.*3127A>G) c.3160-217A>G (n.3160-217A>G) n.3661A>G c.3475A>G (p.Ser1159Gly) c.3430A>G (p.Ser1144Gly) c.3385A>G (p.Ser1129Gly) c.3454A>G (p.Ser1152Gly) c.3439A>G (p.Ser1147Gly) c.3418A>G (p.Ser1140Gly) c.3412A>G (p.Ser1138Gly) c.3367A>G (p.Ser1123Gly) c.3358A>G (p.Ser1120Gly) c.3334A>G (p.Ser1112Gly) c.3328A>G (p.Ser1110Gly) c.3301A>G (p.Ser1101Gly) c.3295A>G (p.Ser1099Gly) c.3289A>G (p.Ser1097Gly) c.3250A>G (p.Ser1084Gly) c.3238A>G (p.Ser1080Gly) c.3181A>G (p.Ser1061Gly) c.3157A>G (p.Ser1053Gly) c.3151A>G (p.Ser1051Gly) c.3133A>G (p.Ser1045Gly) c.3079A>G (p.Ser1027Gly) c.3118-217A>G (n.3118-217A>G) c.2386A>G (p.Ser796Gly) c.2299A>G (p.Ser767Gly) n.3575A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727472A>T | CA399312566 | ERBB2 | c.3337A>T (p.Ser1113Cys) c.3247A>T (p.Ser1083Cys) c.2509A>T (p.Ser837Cys) c.3292A>T (p.Ser1098Cys) c.*3127A>T (n.*3127A>T) c.3160-217A>T (n.3160-217A>T) n.3661A>T c.3475A>T (p.Ser1159Cys) c.3430A>T (p.Ser1144Cys) c.3385A>T (p.Ser1129Cys) c.3454A>T (p.Ser1152Cys) c.3439A>T (p.Ser1147Cys) c.3418A>T (p.Ser1140Cys) c.3412A>T (p.Ser1138Cys) c.3367A>T (p.Ser1123Cys) c.3358A>T (p.Ser1120Cys) c.3334A>T (p.Ser1112Cys) c.3328A>T (p.Ser1110Cys) c.3301A>T (p.Ser1101Cys) c.3295A>T (p.Ser1099Cys) c.3289A>T (p.Ser1097Cys) c.3250A>T (p.Ser1084Cys) c.3238A>T (p.Ser1080Cys) c.3181A>T (p.Ser1061Cys) c.3157A>T (p.Ser1053Cys) c.3151A>T (p.Ser1051Cys) c.3133A>T (p.Ser1045Cys) c.3079A>T (p.Ser1027Cys) c.3118-217A>T (n.3118-217A>T) c.2386A>T (p.Ser796Cys) c.2299A>T (p.Ser767Cys) n.3575A>T | dbSNP |
17 | g.39727473G>A | CA399312572 | ERBB2 | c.3338G>A (p.Ser1113Asn) c.3248G>A (p.Ser1083Asn) c.2510G>A (p.Ser837Asn) c.3293G>A (p.Ser1098Asn) c.*3128G>A (n.*3128G>A) c.3160-216G>A (n.3160-216G>A) n.3662G>A c.3476G>A (p.Ser1159Asn) c.3431G>A (p.Ser1144Asn) c.3386G>A (p.Ser1129Asn) c.3455G>A (p.Ser1152Asn) c.3440G>A (p.Ser1147Asn) c.3419G>A (p.Ser1140Asn) c.3413G>A (p.Ser1138Asn) c.3368G>A (p.Ser1123Asn) c.3359G>A (p.Ser1120Asn) c.3335G>A (p.Ser1112Asn) c.3329G>A (p.Ser1110Asn) c.3302G>A (p.Ser1101Asn) c.3296G>A (p.Ser1099Asn) c.3290G>A (p.Ser1097Asn) c.3251G>A (p.Ser1084Asn) c.3239G>A (p.Ser1080Asn) c.3182G>A (p.Ser1061Asn) c.3158G>A (p.Ser1053Asn) c.3152G>A (p.Ser1051Asn) c.3134G>A (p.Ser1045Asn) c.3080G>A (p.Ser1027Asn) c.3118-216G>A (n.3118-216G>A) c.2387G>A (p.Ser796Asn) c.2300G>A (p.Ser767Asn) n.3576G>A | dbSNP |
17 | g.39727473G>C | CA399312570 | ERBB2 | c.3338G>C (p.Ser1113Thr) c.3248G>C (p.Ser1083Thr) c.2510G>C (p.Ser837Thr) c.3293G>C (p.Ser1098Thr) c.*3128G>C (n.*3128G>C) c.3160-216G>C (n.3160-216G>C) n.3662G>C c.3476G>C (p.Ser1159Thr) c.3431G>C (p.Ser1144Thr) c.3386G>C (p.Ser1129Thr) c.3455G>C (p.Ser1152Thr) c.3440G>C (p.Ser1147Thr) c.3419G>C (p.Ser1140Thr) c.3413G>C (p.Ser1138Thr) c.3368G>C (p.Ser1123Thr) c.3359G>C (p.Ser1120Thr) c.3335G>C (p.Ser1112Thr) c.3329G>C (p.Ser1110Thr) c.3302G>C (p.Ser1101Thr) c.3296G>C (p.Ser1099Thr) c.3290G>C (p.Ser1097Thr) c.3251G>C (p.Ser1084Thr) c.3239G>C (p.Ser1080Thr) c.3182G>C (p.Ser1061Thr) c.3158G>C (p.Ser1053Thr) c.3152G>C (p.Ser1051Thr) c.3134G>C (p.Ser1045Thr) c.3080G>C (p.Ser1027Thr) c.3118-216G>C (n.3118-216G>C) c.2387G>C (p.Ser796Thr) c.2300G>C (p.Ser767Thr) n.3576G>C | dbSNP |
17 | g.39727473G= | CA2259228827 | ERBB2 | c.3338G= (p.Ser1113=) c.3248G= (p.Ser1083=) c.2510G= (p.Ser837=) c.3293G= (p.Ser1098=) c.*3128G= (n.*3128G=) c.3160-216G= (n.3160-216G=) n.3662G= c.3476G= (p.Ser1159=) c.3431G= (p.Ser1144=) c.3386G= (p.Ser1129=) c.3455G= (p.Ser1152=) c.3440G= (p.Ser1147=) c.3419G= (p.Ser1140=) c.3413G= (p.Ser1138=) c.3368G= (p.Ser1123=) c.3359G= (p.Ser1120=) c.3335G= (p.Ser1112=) c.3329G= (p.Ser1110=) c.3302G= (p.Ser1101=) c.3296G= (p.Ser1099=) c.3290G= (p.Ser1097=) c.3251G= (p.Ser1084=) c.3239G= (p.Ser1080=) c.3182G= (p.Ser1061=) c.3158G= (p.Ser1053=) c.3152G= (p.Ser1051=) c.3134G= (p.Ser1045=) c.3080G= (p.Ser1027=) c.3118-216G= (n.3118-216G=) c.2387G= (p.Ser796=) c.2300G= (p.Ser767=) n.3576G= | |
17 | g.39727473G>T | CA399312569 | ERBB2 | c.3338G>T (p.Ser1113Ile) c.3248G>T (p.Ser1083Ile) c.2510G>T (p.Ser837Ile) c.3293G>T (p.Ser1098Ile) c.*3128G>T (n.*3128G>T) c.3160-216G>T (n.3160-216G>T) n.3662G>T c.3476G>T (p.Ser1159Ile) c.3431G>T (p.Ser1144Ile) c.3386G>T (p.Ser1129Ile) c.3455G>T (p.Ser1152Ile) c.3440G>T (p.Ser1147Ile) c.3419G>T (p.Ser1140Ile) c.3413G>T (p.Ser1138Ile) c.3368G>T (p.Ser1123Ile) c.3359G>T (p.Ser1120Ile) c.3335G>T (p.Ser1112Ile) c.3329G>T (p.Ser1110Ile) c.3302G>T (p.Ser1101Ile) c.3296G>T (p.Ser1099Ile) c.3290G>T (p.Ser1097Ile) c.3251G>T (p.Ser1084Ile) c.3239G>T (p.Ser1080Ile) c.3182G>T (p.Ser1061Ile) c.3158G>T (p.Ser1053Ile) c.3152G>T (p.Ser1051Ile) c.3134G>T (p.Ser1045Ile) c.3080G>T (p.Ser1027Ile) c.3118-216G>T (n.3118-216G>T) c.2387G>T (p.Ser796Ile) c.2300G>T (p.Ser767Ile) n.3576G>T | |
17 | g.39727474T>A | CA399312574 | ERBB2 | c.3339T>A (p.Ser1113Arg) c.3249T>A (p.Ser1083Arg) c.2511T>A (p.Ser837Arg) c.3294T>A (p.Ser1098Arg) c.*3129T>A (n.*3129T>A) c.3160-215T>A (n.3160-215T>A) n.3663T>A c.3477T>A (p.Ser1159Arg) c.3432T>A (p.Ser1144Arg) c.3387T>A (p.Ser1129Arg) c.3456T>A (p.Ser1152Arg) c.3441T>A (p.Ser1147Arg) c.3420T>A (p.Ser1140Arg) c.3414T>A (p.Ser1138Arg) c.3369T>A (p.Ser1123Arg) c.3360T>A (p.Ser1120Arg) c.3336T>A (p.Ser1112Arg) c.3330T>A (p.Ser1110Arg) c.3303T>A (p.Ser1101Arg) c.3297T>A (p.Ser1099Arg) c.3291T>A (p.Ser1097Arg) c.3252T>A (p.Ser1084Arg) c.3240T>A (p.Ser1080Arg) c.3183T>A (p.Ser1061Arg) c.3159T>A (p.Ser1053Arg) c.3153T>A (p.Ser1051Arg) c.3135T>A (p.Ser1045Arg) c.3081T>A (p.Ser1027Arg) c.3118-215T>A (n.3118-215T>A) c.2388T>A (p.Ser796Arg) c.2301T>A (p.Ser767Arg) n.3577T>A | dbSNP |
17 | g.39727474T>C | CA499890252 | ERBB2 | c.3339T>C (p.Ser1113=) c.3249T>C (p.Ser1083=) c.2511T>C (p.Ser837=) c.3294T>C (p.Ser1098=) c.*3129T>C (n.*3129T>C) c.3160-215T>C (n.3160-215T>C) n.3663T>C c.3477T>C (p.Ser1159=) c.3432T>C (p.Ser1144=) c.3387T>C (p.Ser1129=) c.3456T>C (p.Ser1152=) c.3441T>C (p.Ser1147=) c.3420T>C (p.Ser1140=) c.3414T>C (p.Ser1138=) c.3369T>C (p.Ser1123=) c.3360T>C (p.Ser1120=) c.3336T>C (p.Ser1112=) c.3330T>C (p.Ser1110=) c.3303T>C (p.Ser1101=) c.3297T>C (p.Ser1099=) c.3291T>C (p.Ser1097=) c.3252T>C (p.Ser1084=) c.3240T>C (p.Ser1080=) c.3183T>C (p.Ser1061=) c.3159T>C (p.Ser1053=) c.3153T>C (p.Ser1051=) c.3135T>C (p.Ser1045=) c.3081T>C (p.Ser1027=) c.3118-215T>C (n.3118-215T>C) c.2388T>C (p.Ser796=) c.2301T>C (p.Ser767=) n.3577T>C | dbSNP |
17 | g.39727474T>G | CA399312576 | ERBB2 | c.3339T>G (p.Ser1113Arg) c.3249T>G (p.Ser1083Arg) c.2511T>G (p.Ser837Arg) c.3294T>G (p.Ser1098Arg) c.*3129T>G (n.*3129T>G) c.3160-215T>G (n.3160-215T>G) n.3663T>G c.3477T>G (p.Ser1159Arg) c.3432T>G (p.Ser1144Arg) c.3387T>G (p.Ser1129Arg) c.3456T>G (p.Ser1152Arg) c.3441T>G (p.Ser1147Arg) c.3420T>G (p.Ser1140Arg) c.3414T>G (p.Ser1138Arg) c.3369T>G (p.Ser1123Arg) c.3360T>G (p.Ser1120Arg) c.3336T>G (p.Ser1112Arg) c.3330T>G (p.Ser1110Arg) c.3303T>G (p.Ser1101Arg) c.3297T>G (p.Ser1099Arg) c.3291T>G (p.Ser1097Arg) c.3252T>G (p.Ser1084Arg) c.3240T>G (p.Ser1080Arg) c.3183T>G (p.Ser1061Arg) c.3159T>G (p.Ser1053Arg) c.3153T>G (p.Ser1051Arg) c.3135T>G (p.Ser1045Arg) c.3081T>G (p.Ser1027Arg) c.3118-215T>G (n.3118-215T>G) c.2388T>G (p.Ser796Arg) c.2301T>G (p.Ser767Arg) n.3577T>G | dbSNP |
17 | g.39727475G>A | CA399312578 | ERBB2 | c.3340G>A (p.Glu1114Lys) c.3250G>A (p.Glu1084Lys) c.2512G>A (p.Glu838Lys) c.3295G>A (p.Glu1099Lys) c.*3130G>A (n.*3130G>A) c.3160-214G>A (n.3160-214G>A) n.3664G>A c.3478G>A (p.Glu1160Lys) c.3433G>A (p.Glu1145Lys) c.3388G>A (p.Glu1130Lys) c.3457G>A (p.Glu1153Lys) c.3442G>A (p.Glu1148Lys) c.3421G>A (p.Glu1141Lys) c.3415G>A (p.Glu1139Lys) c.3370G>A (p.Glu1124Lys) c.3361G>A (p.Glu1121Lys) c.3337G>A (p.Glu1113Lys) c.3331G>A (p.Glu1111Lys) c.3304G>A (p.Glu1102Lys) c.3298G>A (p.Glu1100Lys) c.3292G>A (p.Glu1098Lys) c.3253G>A (p.Glu1085Lys) c.3241G>A (p.Glu1081Lys) c.3184G>A (p.Glu1062Lys) c.3160G>A (p.Glu1054Lys) c.3154G>A (p.Glu1052Lys) c.3136G>A (p.Glu1046Lys) c.3082G>A (p.Glu1028Lys) c.3118-214G>A (n.3118-214G>A) c.2389G>A (p.Glu797Lys) c.2302G>A (p.Glu768Lys) n.3578G>A | dbSNP |
17 | g.39727475G>C | CA399312580 | ERBB2 | c.3340G>C (p.Glu1114Gln) c.3250G>C (p.Glu1084Gln) c.2512G>C (p.Glu838Gln) c.3295G>C (p.Glu1099Gln) c.*3130G>C (n.*3130G>C) c.3160-214G>C (n.3160-214G>C) n.3664G>C c.3478G>C (p.Glu1160Gln) c.3433G>C (p.Glu1145Gln) c.3388G>C (p.Glu1130Gln) c.3457G>C (p.Glu1153Gln) c.3442G>C (p.Glu1148Gln) c.3421G>C (p.Glu1141Gln) c.3415G>C (p.Glu1139Gln) c.3370G>C (p.Glu1124Gln) c.3361G>C (p.Glu1121Gln) c.3337G>C (p.Glu1113Gln) c.3331G>C (p.Glu1111Gln) c.3304G>C (p.Glu1102Gln) c.3298G>C (p.Glu1100Gln) c.3292G>C (p.Glu1098Gln) c.3253G>C (p.Glu1085Gln) c.3241G>C (p.Glu1081Gln) c.3184G>C (p.Glu1062Gln) c.3160G>C (p.Glu1054Gln) c.3154G>C (p.Glu1052Gln) c.3136G>C (p.Glu1046Gln) c.3082G>C (p.Glu1028Gln) c.3118-214G>C (n.3118-214G>C) c.2389G>C (p.Glu797Gln) c.2302G>C (p.Glu768Gln) n.3578G>C | dbSNP |
17 | g.39727475G>T | CA399312582 | ERBB2 | c.3340G>T (p.Glu1114Ter) c.3250G>T (p.Glu1084Ter) c.2512G>T (p.Glu838Ter) c.3295G>T (p.Glu1099Ter) c.*3130G>T (n.*3130G>T) c.3160-214G>T (n.3160-214G>T) n.3664G>T c.3478G>T (p.Glu1160Ter) c.3433G>T (p.Glu1145Ter) c.3388G>T (p.Glu1130Ter) c.3457G>T (p.Glu1153Ter) c.3442G>T (p.Glu1148Ter) c.3421G>T (p.Glu1141Ter) c.3415G>T (p.Glu1139Ter) c.3370G>T (p.Glu1124Ter) c.3361G>T (p.Glu1121Ter) c.3337G>T (p.Glu1113Ter) c.3331G>T (p.Glu1111Ter) c.3304G>T (p.Glu1102Ter) c.3298G>T (p.Glu1100Ter) c.3292G>T (p.Glu1098Ter) c.3253G>T (p.Glu1085Ter) c.3241G>T (p.Glu1081Ter) c.3184G>T (p.Glu1062Ter) c.3160G>T (p.Glu1054Ter) c.3154G>T (p.Glu1052Ter) c.3136G>T (p.Glu1046Ter) c.3082G>T (p.Glu1028Ter) c.3118-214G>T (n.3118-214G>T) c.2389G>T (p.Glu797Ter) c.2302G>T (p.Glu768Ter) n.3578G>T | |
17 | g.39727476A>C | CA399312584 | ERBB2 | c.3341A>C (p.Glu1114Ala) c.3251A>C (p.Glu1084Ala) c.2513A>C (p.Glu838Ala) c.3296A>C (p.Glu1099Ala) c.*3131A>C (n.*3131A>C) c.3160-213A>C (n.3160-213A>C) n.3665A>C c.3479A>C (p.Glu1160Ala) c.3434A>C (p.Glu1145Ala) c.3389A>C (p.Glu1130Ala) c.3458A>C (p.Glu1153Ala) c.3443A>C (p.Glu1148Ala) c.3422A>C (p.Glu1141Ala) c.3416A>C (p.Glu1139Ala) c.3371A>C (p.Glu1124Ala) c.3362A>C (p.Glu1121Ala) c.3338A>C (p.Glu1113Ala) c.3332A>C (p.Glu1111Ala) c.3305A>C (p.Glu1102Ala) c.3299A>C (p.Glu1100Ala) c.3293A>C (p.Glu1098Ala) c.3254A>C (p.Glu1085Ala) c.3242A>C (p.Glu1081Ala) c.3185A>C (p.Glu1062Ala) c.3161A>C (p.Glu1054Ala) c.3155A>C (p.Glu1052Ala) c.3137A>C (p.Glu1046Ala) c.3083A>C (p.Glu1028Ala) c.3118-213A>C (n.3118-213A>C) c.2390A>C (p.Glu797Ala) c.2303A>C (p.Glu768Ala) n.3579A>C | |
17 | g.39727476A>G | CA399312586 | ERBB2 | c.3341A>G (p.Glu1114Gly) c.3251A>G (p.Glu1084Gly) c.2513A>G (p.Glu838Gly) c.3296A>G (p.Glu1099Gly) c.*3131A>G (n.*3131A>G) c.3160-213A>G (n.3160-213A>G) n.3665A>G c.3479A>G (p.Glu1160Gly) c.3434A>G (p.Glu1145Gly) c.3389A>G (p.Glu1130Gly) c.3458A>G (p.Glu1153Gly) c.3443A>G (p.Glu1148Gly) c.3422A>G (p.Glu1141Gly) c.3416A>G (p.Glu1139Gly) c.3371A>G (p.Glu1124Gly) c.3362A>G (p.Glu1121Gly) c.3338A>G (p.Glu1113Gly) c.3332A>G (p.Glu1111Gly) c.3305A>G (p.Glu1102Gly) c.3299A>G (p.Glu1100Gly) c.3293A>G (p.Glu1098Gly) c.3254A>G (p.Glu1085Gly) c.3242A>G (p.Glu1081Gly) c.3185A>G (p.Glu1062Gly) c.3161A>G (p.Glu1054Gly) c.3155A>G (p.Glu1052Gly) c.3137A>G (p.Glu1046Gly) c.3083A>G (p.Glu1028Gly) c.3118-213A>G (n.3118-213A>G) c.2390A>G (p.Glu797Gly) c.2303A>G (p.Glu768Gly) n.3579A>G | dbSNP COSMIC |
17 | g.39727476A>T | CA399312588 | ERBB2 | c.3341A>T (p.Glu1114Val) c.3251A>T (p.Glu1084Val) c.2513A>T (p.Glu838Val) c.3296A>T (p.Glu1099Val) c.*3131A>T (n.*3131A>T) c.3160-213A>T (n.3160-213A>T) n.3665A>T c.3479A>T (p.Glu1160Val) c.3434A>T (p.Glu1145Val) c.3389A>T (p.Glu1130Val) c.3458A>T (p.Glu1153Val) c.3443A>T (p.Glu1148Val) c.3422A>T (p.Glu1141Val) c.3416A>T (p.Glu1139Val) c.3371A>T (p.Glu1124Val) c.3362A>T (p.Glu1121Val) c.3338A>T (p.Glu1113Val) c.3332A>T (p.Glu1111Val) c.3305A>T (p.Glu1102Val) c.3299A>T (p.Glu1100Val) c.3293A>T (p.Glu1098Val) c.3254A>T (p.Glu1085Val) c.3242A>T (p.Glu1081Val) c.3185A>T (p.Glu1062Val) c.3161A>T (p.Glu1054Val) c.3155A>T (p.Glu1052Val) c.3137A>T (p.Glu1046Val) c.3083A>T (p.Glu1028Val) c.3118-213A>T (n.3118-213A>T) c.2390A>T (p.Glu797Val) c.2303A>T (p.Glu768Val) n.3579A>T | dbSNP |
17 | g.39727477G>A | CA499890253 | ERBB2 | c.3342G>A (p.Glu1114=) c.3252G>A (p.Glu1084=) c.2514G>A (p.Glu838=) c.3297G>A (p.Glu1099=) c.*3132G>A (n.*3132G>A) c.3160-212G>A (n.3160-212G>A) n.3666G>A c.3480G>A (p.Glu1160=) c.3435G>A (p.Glu1145=) c.3390G>A (p.Glu1130=) c.3459G>A (p.Glu1153=) c.3444G>A (p.Glu1148=) c.3423G>A (p.Glu1141=) c.3417G>A (p.Glu1139=) c.3372G>A (p.Glu1124=) c.3363G>A (p.Glu1121=) c.3339G>A (p.Glu1113=) c.3333G>A (p.Glu1111=) c.3306G>A (p.Glu1102=) c.3300G>A (p.Glu1100=) c.3294G>A (p.Glu1098=) c.3255G>A (p.Glu1085=) c.3243G>A (p.Glu1081=) c.3186G>A (p.Glu1062=) c.3162G>A (p.Glu1054=) c.3156G>A (p.Glu1052=) c.3138G>A (p.Glu1046=) c.3084G>A (p.Glu1028=) c.3118-212G>A (n.3118-212G>A) c.2391G>A (p.Glu797=) c.2304G>A (p.Glu768=) n.3580G>A | dbSNP gnomAD v4 |
17 | g.39727477G>C | CA399312590 | ERBB2 | c.3342G>C (p.Glu1114Asp) c.3252G>C (p.Glu1084Asp) c.2514G>C (p.Glu838Asp) c.3297G>C (p.Glu1099Asp) c.*3132G>C (n.*3132G>C) c.3160-212G>C (n.3160-212G>C) n.3666G>C c.3480G>C (p.Glu1160Asp) c.3435G>C (p.Glu1145Asp) c.3390G>C (p.Glu1130Asp) c.3459G>C (p.Glu1153Asp) c.3444G>C (p.Glu1148Asp) c.3423G>C (p.Glu1141Asp) c.3417G>C (p.Glu1139Asp) c.3372G>C (p.Glu1124Asp) c.3363G>C (p.Glu1121Asp) c.3339G>C (p.Glu1113Asp) c.3333G>C (p.Glu1111Asp) c.3306G>C (p.Glu1102Asp) c.3300G>C (p.Glu1100Asp) c.3294G>C (p.Glu1098Asp) c.3255G>C (p.Glu1085Asp) c.3243G>C (p.Glu1081Asp) c.3186G>C (p.Glu1062Asp) c.3162G>C (p.Glu1054Asp) c.3156G>C (p.Glu1052Asp) c.3138G>C (p.Glu1046Asp) c.3084G>C (p.Glu1028Asp) c.3118-212G>C (n.3118-212G>C) c.2391G>C (p.Glu797Asp) c.2304G>C (p.Glu768Asp) n.3580G>C | dbSNP |
17 | g.39727477G>T | CA399312592 | ERBB2 | c.3342G>T (p.Glu1114Asp) c.3252G>T (p.Glu1084Asp) c.2514G>T (p.Glu838Asp) c.3297G>T (p.Glu1099Asp) c.*3132G>T (n.*3132G>T) c.3160-212G>T (n.3160-212G>T) n.3666G>T c.3480G>T (p.Glu1160Asp) c.3435G>T (p.Glu1145Asp) c.3390G>T (p.Glu1130Asp) c.3459G>T (p.Glu1153Asp) c.3444G>T (p.Glu1148Asp) c.3423G>T (p.Glu1141Asp) c.3417G>T (p.Glu1139Asp) c.3372G>T (p.Glu1124Asp) c.3363G>T (p.Glu1121Asp) c.3339G>T (p.Glu1113Asp) c.3333G>T (p.Glu1111Asp) c.3306G>T (p.Glu1102Asp) c.3300G>T (p.Glu1100Asp) c.3294G>T (p.Glu1098Asp) c.3255G>T (p.Glu1085Asp) c.3243G>T (p.Glu1081Asp) c.3186G>T (p.Glu1062Asp) c.3162G>T (p.Glu1054Asp) c.3156G>T (p.Glu1052Asp) c.3138G>T (p.Glu1046Asp) c.3084G>T (p.Glu1028Asp) c.3118-212G>T (n.3118-212G>T) c.2391G>T (p.Glu797Asp) c.2304G>T (p.Glu768Asp) n.3580G>T | |
17 | g.39727478G>A | CA399312595 | ERBB2 | c.3343G>A (p.Asp1115Asn) c.3253G>A (p.Asp1085Asn) c.2515G>A (p.Asp839Asn) c.3298G>A (p.Asp1100Asn) c.*3133G>A (n.*3133G>A) c.3160-211G>A (n.3160-211G>A) n.3667G>A c.3481G>A (p.Asp1161Asn) c.3436G>A (p.Asp1146Asn) c.3391G>A (p.Asp1131Asn) c.3460G>A (p.Asp1154Asn) c.3445G>A (p.Asp1149Asn) c.3424G>A (p.Asp1142Asn) c.3418G>A (p.Asp1140Asn) c.3373G>A (p.Asp1125Asn) c.3364G>A (p.Asp1122Asn) c.3340G>A (p.Asp1114Asn) c.3334G>A (p.Asp1112Asn) c.3307G>A (p.Asp1103Asn) c.3301G>A (p.Asp1101Asn) c.3295G>A (p.Asp1099Asn) c.3256G>A (p.Asp1086Asn) c.3244G>A (p.Asp1082Asn) c.3187G>A (p.Asp1063Asn) c.3163G>A (p.Asp1055Asn) c.3157G>A (p.Asp1053Asn) c.3139G>A (p.Asp1047Asn) c.3085G>A (p.Asp1029Asn) c.3118-211G>A (n.3118-211G>A) c.2392G>A (p.Asp798Asn) c.2305G>A (p.Asp769Asn) n.3581G>A | dbSNP |
17 | g.39727478G>C | CA399312596 | ERBB2 | c.3343G>C (p.Asp1115His) c.3253G>C (p.Asp1085His) c.2515G>C (p.Asp839His) c.3298G>C (p.Asp1100His) c.*3133G>C (n.*3133G>C) c.3160-211G>C (n.3160-211G>C) n.3667G>C c.3481G>C (p.Asp1161His) c.3436G>C (p.Asp1146His) c.3391G>C (p.Asp1131His) c.3460G>C (p.Asp1154His) c.3445G>C (p.Asp1149His) c.3424G>C (p.Asp1142His) c.3418G>C (p.Asp1140His) c.3373G>C (p.Asp1125His) c.3364G>C (p.Asp1122His) c.3340G>C (p.Asp1114His) c.3334G>C (p.Asp1112His) c.3307G>C (p.Asp1103His) c.3301G>C (p.Asp1101His) c.3295G>C (p.Asp1099His) c.3256G>C (p.Asp1086His) c.3244G>C (p.Asp1082His) c.3187G>C (p.Asp1063His) c.3163G>C (p.Asp1055His) c.3157G>C (p.Asp1053His) c.3139G>C (p.Asp1047His) c.3085G>C (p.Asp1029His) c.3118-211G>C (n.3118-211G>C) c.2392G>C (p.Asp798His) c.2305G>C (p.Asp769His) n.3581G>C | |
17 | g.39727478G= | CA2259228829 | ERBB2 | c.3343G= (p.Asp1115=) c.3253G= (p.Asp1085=) c.2515G= (p.Asp839=) c.3298G= (p.Asp1100=) c.*3133G= (n.*3133G=) c.3160-211G= (n.3160-211G=) n.3667G= c.3481G= (p.Asp1161=) c.3436G= (p.Asp1146=) c.3391G= (p.Asp1131=) c.3460G= (p.Asp1154=) c.3445G= (p.Asp1149=) c.3424G= (p.Asp1142=) c.3418G= (p.Asp1140=) c.3373G= (p.Asp1125=) c.3364G= (p.Asp1122=) c.3340G= (p.Asp1114=) c.3334G= (p.Asp1112=) c.3307G= (p.Asp1103=) c.3301G= (p.Asp1101=) c.3295G= (p.Asp1099=) c.3256G= (p.Asp1086=) c.3244G= (p.Asp1082=) c.3187G= (p.Asp1063=) c.3163G= (p.Asp1055=) c.3157G= (p.Asp1053=) c.3139G= (p.Asp1047=) c.3085G= (p.Asp1029=) c.3118-211G= (n.3118-211G=) c.2392G= (p.Asp798=) c.2305G= (p.Asp769=) n.3581G= | |
17 | g.39727478G>T | CA399312598 | ERBB2 | c.3343G>T (p.Asp1115Tyr) c.3253G>T (p.Asp1085Tyr) c.2515G>T (p.Asp839Tyr) c.3298G>T (p.Asp1100Tyr) c.*3133G>T (n.*3133G>T) c.3160-211G>T (n.3160-211G>T) n.3667G>T c.3481G>T (p.Asp1161Tyr) c.3436G>T (p.Asp1146Tyr) c.3391G>T (p.Asp1131Tyr) c.3460G>T (p.Asp1154Tyr) c.3445G>T (p.Asp1149Tyr) c.3424G>T (p.Asp1142Tyr) c.3418G>T (p.Asp1140Tyr) c.3373G>T (p.Asp1125Tyr) c.3364G>T (p.Asp1122Tyr) c.3340G>T (p.Asp1114Tyr) c.3334G>T (p.Asp1112Tyr) c.3307G>T (p.Asp1103Tyr) c.3301G>T (p.Asp1101Tyr) c.3295G>T (p.Asp1099Tyr) c.3256G>T (p.Asp1086Tyr) c.3244G>T (p.Asp1082Tyr) c.3187G>T (p.Asp1063Tyr) c.3163G>T (p.Asp1055Tyr) c.3157G>T (p.Asp1053Tyr) c.3139G>T (p.Asp1047Tyr) c.3085G>T (p.Asp1029Tyr) c.3118-211G>T (n.3118-211G>T) c.2392G>T (p.Asp798Tyr) c.2305G>T (p.Asp769Tyr) n.3581G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727479A= | CA2259228831 | ERBB2 | c.3344A= (p.Asp1115=) c.3254A= (p.Asp1085=) c.2516A= (p.Asp839=) c.3299A= (p.Asp1100=) c.*3134A= (n.*3134A=) c.3160-210A= (n.3160-210A=) n.3668A= c.3482A= (p.Asp1161=) c.3437A= (p.Asp1146=) c.3392A= (p.Asp1131=) c.3461A= (p.Asp1154=) c.3446A= (p.Asp1149=) c.3425A= (p.Asp1142=) c.3419A= (p.Asp1140=) c.3374A= (p.Asp1125=) c.3365A= (p.Asp1122=) c.3341A= (p.Asp1114=) c.3335A= (p.Asp1112=) c.3308A= (p.Asp1103=) c.3302A= (p.Asp1101=) c.3296A= (p.Asp1099=) c.3257A= (p.Asp1086=) c.3245A= (p.Asp1082=) c.3188A= (p.Asp1063=) c.3164A= (p.Asp1055=) c.3158A= (p.Asp1053=) c.3140A= (p.Asp1047=) c.3086A= (p.Asp1029=) c.3118-210A= (n.3118-210A=) c.2393A= (p.Asp798=) c.2306A= (p.Asp769=) n.3582A= | |
17 | g.39727479A>C | CA399312602 | ERBB2 | c.3344A>C (p.Asp1115Ala) c.3254A>C (p.Asp1085Ala) c.2516A>C (p.Asp839Ala) c.3299A>C (p.Asp1100Ala) c.*3134A>C (n.*3134A>C) c.3160-210A>C (n.3160-210A>C) n.3668A>C c.3482A>C (p.Asp1161Ala) c.3437A>C (p.Asp1146Ala) c.3392A>C (p.Asp1131Ala) c.3461A>C (p.Asp1154Ala) c.3446A>C (p.Asp1149Ala) c.3425A>C (p.Asp1142Ala) c.3419A>C (p.Asp1140Ala) c.3374A>C (p.Asp1125Ala) c.3365A>C (p.Asp1122Ala) c.3341A>C (p.Asp1114Ala) c.3335A>C (p.Asp1112Ala) c.3308A>C (p.Asp1103Ala) c.3302A>C (p.Asp1101Ala) c.3296A>C (p.Asp1099Ala) c.3257A>C (p.Asp1086Ala) c.3245A>C (p.Asp1082Ala) c.3188A>C (p.Asp1063Ala) c.3164A>C (p.Asp1055Ala) c.3158A>C (p.Asp1053Ala) c.3140A>C (p.Asp1047Ala) c.3086A>C (p.Asp1029Ala) c.3118-210A>C (n.3118-210A>C) c.2393A>C (p.Asp798Ala) c.2306A>C (p.Asp769Ala) n.3582A>C | gnomAD v4 |
17 | g.39727479A>G | CA399312604 | ERBB2 | c.3344A>G (p.Asp1115Gly) c.3254A>G (p.Asp1085Gly) c.2516A>G (p.Asp839Gly) c.3299A>G (p.Asp1100Gly) c.*3134A>G (n.*3134A>G) c.3160-210A>G (n.3160-210A>G) n.3668A>G c.3482A>G (p.Asp1161Gly) c.3437A>G (p.Asp1146Gly) c.3392A>G (p.Asp1131Gly) c.3461A>G (p.Asp1154Gly) c.3446A>G (p.Asp1149Gly) c.3425A>G (p.Asp1142Gly) c.3419A>G (p.Asp1140Gly) c.3374A>G (p.Asp1125Gly) c.3365A>G (p.Asp1122Gly) c.3341A>G (p.Asp1114Gly) c.3335A>G (p.Asp1112Gly) c.3308A>G (p.Asp1103Gly) c.3302A>G (p.Asp1101Gly) c.3296A>G (p.Asp1099Gly) c.3257A>G (p.Asp1086Gly) c.3245A>G (p.Asp1082Gly) c.3188A>G (p.Asp1063Gly) c.3164A>G (p.Asp1055Gly) c.3158A>G (p.Asp1053Gly) c.3140A>G (p.Asp1047Gly) c.3086A>G (p.Asp1029Gly) c.3118-210A>G (n.3118-210A>G) c.2393A>G (p.Asp798Gly) c.2306A>G (p.Asp769Gly) n.3582A>G | |
17 | g.39727479A>T | CA399312601 | ERBB2 | c.3344A>T (p.Asp1115Val) c.3254A>T (p.Asp1085Val) c.2516A>T (p.Asp839Val) c.3299A>T (p.Asp1100Val) c.*3134A>T (n.*3134A>T) c.3160-210A>T (n.3160-210A>T) n.3668A>T c.3482A>T (p.Asp1161Val) c.3437A>T (p.Asp1146Val) c.3392A>T (p.Asp1131Val) c.3461A>T (p.Asp1154Val) c.3446A>T (p.Asp1149Val) c.3425A>T (p.Asp1142Val) c.3419A>T (p.Asp1140Val) c.3374A>T (p.Asp1125Val) c.3365A>T (p.Asp1122Val) c.3341A>T (p.Asp1114Val) c.3335A>T (p.Asp1112Val) c.3308A>T (p.Asp1103Val) c.3302A>T (p.Asp1101Val) c.3296A>T (p.Asp1099Val) c.3257A>T (p.Asp1086Val) c.3245A>T (p.Asp1082Val) c.3188A>T (p.Asp1063Val) c.3164A>T (p.Asp1055Val) c.3158A>T (p.Asp1053Val) c.3140A>T (p.Asp1047Val) c.3086A>T (p.Asp1029Val) c.3118-210A>T (n.3118-210A>T) c.2393A>T (p.Asp798Val) c.2306A>T (p.Asp769Val) n.3582A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727480C>A | CA399312607 | ERBB2 | c.3345C>A (p.Asp1115Glu) c.3255C>A (p.Asp1085Glu) c.2517C>A (p.Asp839Glu) c.3300C>A (p.Asp1100Glu) c.*3135C>A (n.*3135C>A) c.3160-209C>A (n.3160-209C>A) n.3669C>A c.3483C>A (p.Asp1161Glu) c.3438C>A (p.Asp1146Glu) c.3393C>A (p.Asp1131Glu) c.3462C>A (p.Asp1154Glu) c.3447C>A (p.Asp1149Glu) c.3426C>A (p.Asp1142Glu) c.3420C>A (p.Asp1140Glu) c.3375C>A (p.Asp1125Glu) c.3366C>A (p.Asp1122Glu) c.3342C>A (p.Asp1114Glu) c.3336C>A (p.Asp1112Glu) c.3309C>A (p.Asp1103Glu) c.3303C>A (p.Asp1101Glu) c.3297C>A (p.Asp1099Glu) c.3258C>A (p.Asp1086Glu) c.3246C>A (p.Asp1082Glu) c.3189C>A (p.Asp1063Glu) c.3165C>A (p.Asp1055Glu) c.3159C>A (p.Asp1053Glu) c.3141C>A (p.Asp1047Glu) c.3087C>A (p.Asp1029Glu) c.3118-209C>A (n.3118-209C>A) c.2394C>A (p.Asp798Glu) c.2307C>A (p.Asp769Glu) n.3583C>A | dbSNP |
17 | g.39727480C= | CA2259228832 | ERBB2 | c.3345C= (p.Asp1115=) c.3255C= (p.Asp1085=) c.2517C= (p.Asp839=) c.3300C= (p.Asp1100=) c.*3135C= (n.*3135C=) c.3160-209C= (n.3160-209C=) n.3669C= c.3483C= (p.Asp1161=) c.3438C= (p.Asp1146=) c.3393C= (p.Asp1131=) c.3462C= (p.Asp1154=) c.3447C= (p.Asp1149=) c.3426C= (p.Asp1142=) c.3420C= (p.Asp1140=) c.3375C= (p.Asp1125=) c.3366C= (p.Asp1122=) c.3342C= (p.Asp1114=) c.3336C= (p.Asp1112=) c.3309C= (p.Asp1103=) c.3303C= (p.Asp1101=) c.3297C= (p.Asp1099=) c.3258C= (p.Asp1086=) c.3246C= (p.Asp1082=) c.3189C= (p.Asp1063=) c.3165C= (p.Asp1055=) c.3159C= (p.Asp1053=) c.3141C= (p.Asp1047=) c.3087C= (p.Asp1029=) c.3118-209C= (n.3118-209C=) c.2394C= (p.Asp798=) c.2307C= (p.Asp769=) n.3583C= | |
17 | g.39727480C>G | CA399312608 | ERBB2 | c.3345C>G (p.Asp1115Glu) c.3255C>G (p.Asp1085Glu) c.2517C>G (p.Asp839Glu) c.3300C>G (p.Asp1100Glu) c.*3135C>G (n.*3135C>G) c.3160-209C>G (n.3160-209C>G) n.3669C>G c.3483C>G (p.Asp1161Glu) c.3438C>G (p.Asp1146Glu) c.3393C>G (p.Asp1131Glu) c.3462C>G (p.Asp1154Glu) c.3447C>G (p.Asp1149Glu) c.3426C>G (p.Asp1142Glu) c.3420C>G (p.Asp1140Glu) c.3375C>G (p.Asp1125Glu) c.3366C>G (p.Asp1122Glu) c.3342C>G (p.Asp1114Glu) c.3336C>G (p.Asp1112Glu) c.3309C>G (p.Asp1103Glu) c.3303C>G (p.Asp1101Glu) c.3297C>G (p.Asp1099Glu) c.3258C>G (p.Asp1086Glu) c.3246C>G (p.Asp1082Glu) c.3189C>G (p.Asp1063Glu) c.3165C>G (p.Asp1055Glu) c.3159C>G (p.Asp1053Glu) c.3141C>G (p.Asp1047Glu) c.3087C>G (p.Asp1029Glu) c.3118-209C>G (n.3118-209C>G) c.2394C>G (p.Asp798Glu) c.2307C>G (p.Asp769Glu) n.3583C>G | dbSNP |
17 | g.39727480C>T | CA499890254 | ERBB2 | c.3345C>T (p.Asp1115=) c.3255C>T (p.Asp1085=) c.2517C>T (p.Asp839=) c.3300C>T (p.Asp1100=) c.*3135C>T (n.*3135C>T) c.3160-209C>T (n.3160-209C>T) n.3669C>T c.3483C>T (p.Asp1161=) c.3438C>T (p.Asp1146=) c.3393C>T (p.Asp1131=) c.3462C>T (p.Asp1154=) c.3447C>T (p.Asp1149=) c.3426C>T (p.Asp1142=) c.3420C>T (p.Asp1140=) c.3375C>T (p.Asp1125=) c.3366C>T (p.Asp1122=) c.3342C>T (p.Asp1114=) c.3336C>T (p.Asp1112=) c.3309C>T (p.Asp1103=) c.3303C>T (p.Asp1101=) c.3297C>T (p.Asp1099=) c.3258C>T (p.Asp1086=) c.3246C>T (p.Asp1082=) c.3189C>T (p.Asp1063=) c.3165C>T (p.Asp1055=) c.3159C>T (p.Asp1053=) c.3141C>T (p.Asp1047=) c.3087C>T (p.Asp1029=) c.3118-209C>T (n.3118-209C>T) c.2394C>T (p.Asp798=) c.2307C>T (p.Asp769=) n.3583C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727481C>A | CA399312611 | ERBB2 | c.3346C>A (p.Pro1116Thr) c.3256C>A (p.Pro1086Thr) c.2518C>A (p.Pro840Thr) c.3301C>A (p.Pro1101Thr) c.*3136C>A (n.*3136C>A) c.3160-208C>A (n.3160-208C>A) n.3670C>A c.3484C>A (p.Pro1162Thr) c.3439C>A (p.Pro1147Thr) c.3394C>A (p.Pro1132Thr) c.3463C>A (p.Pro1155Thr) c.3448C>A (p.Pro1150Thr) c.3427C>A (p.Pro1143Thr) c.3421C>A (p.Pro1141Thr) c.3376C>A (p.Pro1126Thr) c.3367C>A (p.Pro1123Thr) c.3343C>A (p.Pro1115Thr) c.3337C>A (p.Pro1113Thr) c.3310C>A (p.Pro1104Thr) c.3304C>A (p.Pro1102Thr) c.3298C>A (p.Pro1100Thr) c.3259C>A (p.Pro1087Thr) c.3247C>A (p.Pro1083Thr) c.3190C>A (p.Pro1064Thr) c.3166C>A (p.Pro1056Thr) c.3160C>A (p.Pro1054Thr) c.3142C>A (p.Pro1048Thr) c.3088C>A (p.Pro1030Thr) c.3118-208C>A (n.3118-208C>A) c.2395C>A (p.Pro799Thr) c.2308C>A (p.Pro770Thr) n.3584C>A | |
17 | g.39727481C= | CA2259228834 | ERBB2 | c.3346C= (p.Pro1116=) c.3256C= (p.Pro1086=) c.2518C= (p.Pro840=) c.3301C= (p.Pro1101=) c.*3136C= (n.*3136C=) c.3160-208C= (n.3160-208C=) n.3670C= c.3484C= (p.Pro1162=) c.3439C= (p.Pro1147=) c.3394C= (p.Pro1132=) c.3463C= (p.Pro1155=) c.3448C= (p.Pro1150=) c.3427C= (p.Pro1143=) c.3421C= (p.Pro1141=) c.3376C= (p.Pro1126=) c.3367C= (p.Pro1123=) c.3343C= (p.Pro1115=) c.3337C= (p.Pro1113=) c.3310C= (p.Pro1104=) c.3304C= (p.Pro1102=) c.3298C= (p.Pro1100=) c.3259C= (p.Pro1087=) c.3247C= (p.Pro1083=) c.3190C= (p.Pro1064=) c.3166C= (p.Pro1056=) c.3160C= (p.Pro1054=) c.3142C= (p.Pro1048=) c.3088C= (p.Pro1030=) c.3118-208C= (n.3118-208C=) c.2395C= (p.Pro799=) c.2308C= (p.Pro770=) n.3584C= | |
17 | g.39727481C>G | CA399312613 | ERBB2 | c.3346C>G (p.Pro1116Ala) c.3256C>G (p.Pro1086Ala) c.2518C>G (p.Pro840Ala) c.3301C>G (p.Pro1101Ala) c.*3136C>G (n.*3136C>G) c.3160-208C>G (n.3160-208C>G) n.3670C>G c.3484C>G (p.Pro1162Ala) c.3439C>G (p.Pro1147Ala) c.3394C>G (p.Pro1132Ala) c.3463C>G (p.Pro1155Ala) c.3448C>G (p.Pro1150Ala) c.3427C>G (p.Pro1143Ala) c.3421C>G (p.Pro1141Ala) c.3376C>G (p.Pro1126Ala) c.3367C>G (p.Pro1123Ala) c.3343C>G (p.Pro1115Ala) c.3337C>G (p.Pro1113Ala) c.3310C>G (p.Pro1104Ala) c.3304C>G (p.Pro1102Ala) c.3298C>G (p.Pro1100Ala) c.3259C>G (p.Pro1087Ala) c.3247C>G (p.Pro1083Ala) c.3190C>G (p.Pro1064Ala) c.3166C>G (p.Pro1056Ala) c.3160C>G (p.Pro1054Ala) c.3142C>G (p.Pro1048Ala) c.3088C>G (p.Pro1030Ala) c.3118-208C>G (n.3118-208C>G) c.2395C>G (p.Pro799Ala) c.2308C>G (p.Pro770Ala) n.3584C>G | |
17 | g.39727481C>T | CA290443424 | ERBB2 | c.3346C>T (p.Pro1116Ser) c.3256C>T (p.Pro1086Ser) c.2518C>T (p.Pro840Ser) c.3301C>T (p.Pro1101Ser) c.*3136C>T (n.*3136C>T) c.3160-208C>T (n.3160-208C>T) n.3670C>T c.3484C>T (p.Pro1162Ser) c.3439C>T (p.Pro1147Ser) c.3394C>T (p.Pro1132Ser) c.3463C>T (p.Pro1155Ser) c.3448C>T (p.Pro1150Ser) c.3427C>T (p.Pro1143Ser) c.3421C>T (p.Pro1141Ser) c.3376C>T (p.Pro1126Ser) c.3367C>T (p.Pro1123Ser) c.3343C>T (p.Pro1115Ser) c.3337C>T (p.Pro1113Ser) c.3310C>T (p.Pro1104Ser) c.3304C>T (p.Pro1102Ser) c.3298C>T (p.Pro1100Ser) c.3259C>T (p.Pro1087Ser) c.3247C>T (p.Pro1083Ser) c.3190C>T (p.Pro1064Ser) c.3166C>T (p.Pro1056Ser) c.3160C>T (p.Pro1054Ser) c.3142C>T (p.Pro1048Ser) c.3088C>T (p.Pro1030Ser) c.3118-208C>T (n.3118-208C>T) c.2395C>T (p.Pro799Ser) c.2308C>T (p.Pro770Ser) n.3584C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727482C>A | CA399312614 | ERBB2 | c.3347C>A (p.Pro1116His) c.3257C>A (p.Pro1086His) c.2519C>A (p.Pro840His) c.3302C>A (p.Pro1101His) c.*3137C>A (n.*3137C>A) c.3160-207C>A (n.3160-207C>A) n.3671C>A c.3485C>A (p.Pro1162His) c.3440C>A (p.Pro1147His) c.3395C>A (p.Pro1132His) c.3464C>A (p.Pro1155His) c.3449C>A (p.Pro1150His) c.3428C>A (p.Pro1143His) c.3422C>A (p.Pro1141His) c.3377C>A (p.Pro1126His) c.3368C>A (p.Pro1123His) c.3344C>A (p.Pro1115His) c.3338C>A (p.Pro1113His) c.3311C>A (p.Pro1104His) c.3305C>A (p.Pro1102His) c.3299C>A (p.Pro1100His) c.3260C>A (p.Pro1087His) c.3248C>A (p.Pro1083His) c.3191C>A (p.Pro1064His) c.3167C>A (p.Pro1056His) c.3161C>A (p.Pro1054His) c.3143C>A (p.Pro1048His) c.3089C>A (p.Pro1030His) c.3118-207C>A (n.3118-207C>A) c.2396C>A (p.Pro799His) c.2309C>A (p.Pro770His) n.3585C>A | |
17 | g.39727482C>G | CA399312618 | ERBB2 | c.3347C>G (p.Pro1116Arg) c.3257C>G (p.Pro1086Arg) c.2519C>G (p.Pro840Arg) c.3302C>G (p.Pro1101Arg) c.*3137C>G (n.*3137C>G) c.3160-207C>G (n.3160-207C>G) n.3671C>G c.3485C>G (p.Pro1162Arg) c.3440C>G (p.Pro1147Arg) c.3395C>G (p.Pro1132Arg) c.3464C>G (p.Pro1155Arg) c.3449C>G (p.Pro1150Arg) c.3428C>G (p.Pro1143Arg) c.3422C>G (p.Pro1141Arg) c.3377C>G (p.Pro1126Arg) c.3368C>G (p.Pro1123Arg) c.3344C>G (p.Pro1115Arg) c.3338C>G (p.Pro1113Arg) c.3311C>G (p.Pro1104Arg) c.3305C>G (p.Pro1102Arg) c.3299C>G (p.Pro1100Arg) c.3260C>G (p.Pro1087Arg) c.3248C>G (p.Pro1083Arg) c.3191C>G (p.Pro1064Arg) c.3167C>G (p.Pro1056Arg) c.3161C>G (p.Pro1054Arg) c.3143C>G (p.Pro1048Arg) c.3089C>G (p.Pro1030Arg) c.3118-207C>G (n.3118-207C>G) c.2396C>G (p.Pro799Arg) c.2309C>G (p.Pro770Arg) n.3585C>G | |
17 | g.39727482C>T | CA399312616 | ERBB2 | c.3347C>T (p.Pro1116Leu) c.3257C>T (p.Pro1086Leu) c.2519C>T (p.Pro840Leu) c.3302C>T (p.Pro1101Leu) c.*3137C>T (n.*3137C>T) c.3160-207C>T (n.3160-207C>T) n.3671C>T c.3485C>T (p.Pro1162Leu) c.3440C>T (p.Pro1147Leu) c.3395C>T (p.Pro1132Leu) c.3464C>T (p.Pro1155Leu) c.3449C>T (p.Pro1150Leu) c.3428C>T (p.Pro1143Leu) c.3422C>T (p.Pro1141Leu) c.3377C>T (p.Pro1126Leu) c.3368C>T (p.Pro1123Leu) c.3344C>T (p.Pro1115Leu) c.3338C>T (p.Pro1113Leu) c.3311C>T (p.Pro1104Leu) c.3305C>T (p.Pro1102Leu) c.3299C>T (p.Pro1100Leu) c.3260C>T (p.Pro1087Leu) c.3248C>T (p.Pro1083Leu) c.3191C>T (p.Pro1064Leu) c.3167C>T (p.Pro1056Leu) c.3161C>T (p.Pro1054Leu) c.3143C>T (p.Pro1048Leu) c.3089C>T (p.Pro1030Leu) c.3118-207C>T (n.3118-207C>T) c.2396C>T (p.Pro799Leu) c.2309C>T (p.Pro770Leu) n.3585C>T | dbSNP gnomAD v4 |
17 | g.39727483C>A | CA499890255 | ERBB2 | c.3348C>A (p.Pro1116=) c.3258C>A (p.Pro1086=) c.2520C>A (p.Pro840=) c.3303C>A (p.Pro1101=) c.*3138C>A (n.*3138C>A) c.3160-206C>A (n.3160-206C>A) n.3672C>A c.3486C>A (p.Pro1162=) c.3441C>A (p.Pro1147=) c.3396C>A (p.Pro1132=) c.3465C>A (p.Pro1155=) c.3450C>A (p.Pro1150=) c.3429C>A (p.Pro1143=) c.3423C>A (p.Pro1141=) c.3378C>A (p.Pro1126=) c.3369C>A (p.Pro1123=) c.3345C>A (p.Pro1115=) c.3339C>A (p.Pro1113=) c.3312C>A (p.Pro1104=) c.3306C>A (p.Pro1102=) c.3300C>A (p.Pro1100=) c.3261C>A (p.Pro1087=) c.3249C>A (p.Pro1083=) c.3192C>A (p.Pro1064=) c.3168C>A (p.Pro1056=) c.3162C>A (p.Pro1054=) c.3144C>A (p.Pro1048=) c.3090C>A (p.Pro1030=) c.3118-206C>A (n.3118-206C>A) c.2397C>A (p.Pro799=) c.2310C>A (p.Pro770=) n.3586C>A | |
17 | g.39727483C>G | CA499890256 | ERBB2 | c.3348C>G (p.Pro1116=) c.3258C>G (p.Pro1086=) c.2520C>G (p.Pro840=) c.3303C>G (p.Pro1101=) c.*3138C>G (n.*3138C>G) c.3160-206C>G (n.3160-206C>G) n.3672C>G c.3486C>G (p.Pro1162=) c.3441C>G (p.Pro1147=) c.3396C>G (p.Pro1132=) c.3465C>G (p.Pro1155=) c.3450C>G (p.Pro1150=) c.3429C>G (p.Pro1143=) c.3423C>G (p.Pro1141=) c.3378C>G (p.Pro1126=) c.3369C>G (p.Pro1123=) c.3345C>G (p.Pro1115=) c.3339C>G (p.Pro1113=) c.3312C>G (p.Pro1104=) c.3306C>G (p.Pro1102=) c.3300C>G (p.Pro1100=) c.3261C>G (p.Pro1087=) c.3249C>G (p.Pro1083=) c.3192C>G (p.Pro1064=) c.3168C>G (p.Pro1056=) c.3162C>G (p.Pro1054=) c.3144C>G (p.Pro1048=) c.3090C>G (p.Pro1030=) c.3118-206C>G (n.3118-206C>G) c.2397C>G (p.Pro799=) c.2310C>G (p.Pro770=) n.3586C>G | |
17 | g.39727483C>T | CA499890257 | ERBB2 | c.3348C>T (p.Pro1116=) c.3258C>T (p.Pro1086=) c.2520C>T (p.Pro840=) c.3303C>T (p.Pro1101=) c.*3138C>T (n.*3138C>T) c.3160-206C>T (n.3160-206C>T) n.3672C>T c.3486C>T (p.Pro1162=) c.3441C>T (p.Pro1147=) c.3396C>T (p.Pro1132=) c.3465C>T (p.Pro1155=) c.3450C>T (p.Pro1150=) c.3429C>T (p.Pro1143=) c.3423C>T (p.Pro1141=) c.3378C>T (p.Pro1126=) c.3369C>T (p.Pro1123=) c.3345C>T (p.Pro1115=) c.3339C>T (p.Pro1113=) c.3312C>T (p.Pro1104=) c.3306C>T (p.Pro1102=) c.3300C>T (p.Pro1100=) c.3261C>T (p.Pro1087=) c.3249C>T (p.Pro1083=) c.3192C>T (p.Pro1064=) c.3168C>T (p.Pro1056=) c.3162C>T (p.Pro1054=) c.3144C>T (p.Pro1048=) c.3090C>T (p.Pro1030=) c.3118-206C>T (n.3118-206C>T) c.2397C>T (p.Pro799=) c.2310C>T (p.Pro770=) n.3586C>T | |
17 | g.39727484A= | CA2259228836 | ERBB2 | c.3349A= (p.Thr1117=) c.3259A= (p.Thr1087=) c.2521A= (p.Thr841=) c.3304A= (p.Thr1102=) c.*3139A= (n.*3139A=) c.3160-205A= (n.3160-205A=) n.3673A= c.3487A= (p.Thr1163=) c.3442A= (p.Thr1148=) c.3397A= (p.Thr1133=) c.3466A= (p.Thr1156=) c.3451A= (p.Thr1151=) c.3430A= (p.Thr1144=) c.3424A= (p.Thr1142=) c.3379A= (p.Thr1127=) c.3370A= (p.Thr1124=) c.3346A= (p.Thr1116=) c.3340A= (p.Thr1114=) c.3313A= (p.Thr1105=) c.3307A= (p.Thr1103=) c.3301A= (p.Thr1101=) c.3262A= (p.Thr1088=) c.3250A= (p.Thr1084=) c.3193A= (p.Thr1065=) c.3169A= (p.Thr1057=) c.3163A= (p.Thr1055=) c.3145A= (p.Thr1049=) c.3091A= (p.Thr1031=) c.3118-205A= (n.3118-205A=) c.2398A= (p.Thr800=) c.2311A= (p.Thr771=) n.3587A= | |
17 | g.39727484A>C | CA399312620 | ERBB2 | c.3349A>C (p.Thr1117Pro) c.3259A>C (p.Thr1087Pro) c.2521A>C (p.Thr841Pro) c.3304A>C (p.Thr1102Pro) c.*3139A>C (n.*3139A>C) c.3160-205A>C (n.3160-205A>C) n.3673A>C c.3487A>C (p.Thr1163Pro) c.3442A>C (p.Thr1148Pro) c.3397A>C (p.Thr1133Pro) c.3466A>C (p.Thr1156Pro) c.3451A>C (p.Thr1151Pro) c.3430A>C (p.Thr1144Pro) c.3424A>C (p.Thr1142Pro) c.3379A>C (p.Thr1127Pro) c.3370A>C (p.Thr1124Pro) c.3346A>C (p.Thr1116Pro) c.3340A>C (p.Thr1114Pro) c.3313A>C (p.Thr1105Pro) c.3307A>C (p.Thr1103Pro) c.3301A>C (p.Thr1101Pro) c.3262A>C (p.Thr1088Pro) c.3250A>C (p.Thr1084Pro) c.3193A>C (p.Thr1065Pro) c.3169A>C (p.Thr1057Pro) c.3163A>C (p.Thr1055Pro) c.3145A>C (p.Thr1049Pro) c.3091A>C (p.Thr1031Pro) c.3118-205A>C (n.3118-205A>C) c.2398A>C (p.Thr800Pro) c.2311A>C (p.Thr771Pro) n.3587A>C | dbSNP |
17 | g.39727484A>G | CA399312621 | ERBB2 | c.3349A>G (p.Thr1117Ala) c.3259A>G (p.Thr1087Ala) c.2521A>G (p.Thr841Ala) c.3304A>G (p.Thr1102Ala) c.*3139A>G (n.*3139A>G) c.3160-205A>G (n.3160-205A>G) n.3673A>G c.3487A>G (p.Thr1163Ala) c.3442A>G (p.Thr1148Ala) c.3397A>G (p.Thr1133Ala) c.3466A>G (p.Thr1156Ala) c.3451A>G (p.Thr1151Ala) c.3430A>G (p.Thr1144Ala) c.3424A>G (p.Thr1142Ala) c.3379A>G (p.Thr1127Ala) c.3370A>G (p.Thr1124Ala) c.3346A>G (p.Thr1116Ala) c.3340A>G (p.Thr1114Ala) c.3313A>G (p.Thr1105Ala) c.3307A>G (p.Thr1103Ala) c.3301A>G (p.Thr1101Ala) c.3262A>G (p.Thr1088Ala) c.3250A>G (p.Thr1084Ala) c.3193A>G (p.Thr1065Ala) c.3169A>G (p.Thr1057Ala) c.3163A>G (p.Thr1055Ala) c.3145A>G (p.Thr1049Ala) c.3091A>G (p.Thr1031Ala) c.3118-205A>G (n.3118-205A>G) c.2398A>G (p.Thr800Ala) c.2311A>G (p.Thr771Ala) n.3587A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727484A>T | CA399312623 | ERBB2 | c.3349A>T (p.Thr1117Ser) c.3259A>T (p.Thr1087Ser) c.2521A>T (p.Thr841Ser) c.3304A>T (p.Thr1102Ser) c.*3139A>T (n.*3139A>T) c.3160-205A>T (n.3160-205A>T) n.3673A>T c.3487A>T (p.Thr1163Ser) c.3442A>T (p.Thr1148Ser) c.3397A>T (p.Thr1133Ser) c.3466A>T (p.Thr1156Ser) c.3451A>T (p.Thr1151Ser) c.3430A>T (p.Thr1144Ser) c.3424A>T (p.Thr1142Ser) c.3379A>T (p.Thr1127Ser) c.3370A>T (p.Thr1124Ser) c.3346A>T (p.Thr1116Ser) c.3340A>T (p.Thr1114Ser) c.3313A>T (p.Thr1105Ser) c.3307A>T (p.Thr1103Ser) c.3301A>T (p.Thr1101Ser) c.3262A>T (p.Thr1088Ser) c.3250A>T (p.Thr1084Ser) c.3193A>T (p.Thr1065Ser) c.3169A>T (p.Thr1057Ser) c.3163A>T (p.Thr1055Ser) c.3145A>T (p.Thr1049Ser) c.3091A>T (p.Thr1031Ser) c.3118-205A>T (n.3118-205A>T) c.2398A>T (p.Thr800Ser) c.2311A>T (p.Thr771Ser) n.3587A>T | dbSNP |
17 | g.39727485C>A | CA399312626 | ERBB2 | c.3350C>A (p.Thr1117Lys) c.3260C>A (p.Thr1087Lys) c.2522C>A (p.Thr841Lys) c.3305C>A (p.Thr1102Lys) c.*3140C>A (n.*3140C>A) c.3160-204C>A (n.3160-204C>A) n.3674C>A c.3488C>A (p.Thr1163Lys) c.3443C>A (p.Thr1148Lys) c.3398C>A (p.Thr1133Lys) c.3467C>A (p.Thr1156Lys) c.3452C>A (p.Thr1151Lys) c.3431C>A (p.Thr1144Lys) c.3425C>A (p.Thr1142Lys) c.3380C>A (p.Thr1127Lys) c.3371C>A (p.Thr1124Lys) c.3347C>A (p.Thr1116Lys) c.3341C>A (p.Thr1114Lys) c.3314C>A (p.Thr1105Lys) c.3308C>A (p.Thr1103Lys) c.3302C>A (p.Thr1101Lys) c.3263C>A (p.Thr1088Lys) c.3251C>A (p.Thr1084Lys) c.3194C>A (p.Thr1065Lys) c.3170C>A (p.Thr1057Lys) c.3164C>A (p.Thr1055Lys) c.3146C>A (p.Thr1049Lys) c.3092C>A (p.Thr1031Lys) c.3118-204C>A (n.3118-204C>A) c.2399C>A (p.Thr800Lys) c.2312C>A (p.Thr771Lys) n.3588C>A | dbSNP gnomAD v4 |
17 | g.39727485C>G | CA399312627 | ERBB2 | c.3350C>G (p.Thr1117Arg) c.3260C>G (p.Thr1087Arg) c.2522C>G (p.Thr841Arg) c.3305C>G (p.Thr1102Arg) c.*3140C>G (n.*3140C>G) c.3160-204C>G (n.3160-204C>G) n.3674C>G c.3488C>G (p.Thr1163Arg) c.3443C>G (p.Thr1148Arg) c.3398C>G (p.Thr1133Arg) c.3467C>G (p.Thr1156Arg) c.3452C>G (p.Thr1151Arg) c.3431C>G (p.Thr1144Arg) c.3425C>G (p.Thr1142Arg) c.3380C>G (p.Thr1127Arg) c.3371C>G (p.Thr1124Arg) c.3347C>G (p.Thr1116Arg) c.3341C>G (p.Thr1114Arg) c.3314C>G (p.Thr1105Arg) c.3308C>G (p.Thr1103Arg) c.3302C>G (p.Thr1101Arg) c.3263C>G (p.Thr1088Arg) c.3251C>G (p.Thr1084Arg) c.3194C>G (p.Thr1065Arg) c.3170C>G (p.Thr1057Arg) c.3164C>G (p.Thr1055Arg) c.3146C>G (p.Thr1049Arg) c.3092C>G (p.Thr1031Arg) c.3118-204C>G (n.3118-204C>G) c.2399C>G (p.Thr800Arg) c.2312C>G (p.Thr771Arg) n.3588C>G | dbSNP |
17 | g.39727485C>T | CA399312629 | ERBB2 | c.3350C>T (p.Thr1117Ile) c.3260C>T (p.Thr1087Ile) c.2522C>T (p.Thr841Ile) c.3305C>T (p.Thr1102Ile) c.*3140C>T (n.*3140C>T) c.3160-204C>T (n.3160-204C>T) n.3674C>T c.3488C>T (p.Thr1163Ile) c.3443C>T (p.Thr1148Ile) c.3398C>T (p.Thr1133Ile) c.3467C>T (p.Thr1156Ile) c.3452C>T (p.Thr1151Ile) c.3431C>T (p.Thr1144Ile) c.3425C>T (p.Thr1142Ile) c.3380C>T (p.Thr1127Ile) c.3371C>T (p.Thr1124Ile) c.3347C>T (p.Thr1116Ile) c.3341C>T (p.Thr1114Ile) c.3314C>T (p.Thr1105Ile) c.3308C>T (p.Thr1103Ile) c.3302C>T (p.Thr1101Ile) c.3263C>T (p.Thr1088Ile) c.3251C>T (p.Thr1084Ile) c.3194C>T (p.Thr1065Ile) c.3170C>T (p.Thr1057Ile) c.3164C>T (p.Thr1055Ile) c.3146C>T (p.Thr1049Ile) c.3092C>T (p.Thr1031Ile) c.3118-204C>T (n.3118-204C>T) c.2399C>T (p.Thr800Ile) c.2312C>T (p.Thr771Ile) n.3588C>T | gnomAD v4 |
17 | g.39727486A= | CA2259228838 | ERBB2 | c.3351A= (p.Thr1117=) c.3261A= (p.Thr1087=) c.2523A= (p.Thr841=) c.3306A= (p.Thr1102=) c.*3141A= (n.*3141A=) c.3160-203A= (n.3160-203A=) n.3675A= c.3489A= (p.Thr1163=) c.3444A= (p.Thr1148=) c.3399A= (p.Thr1133=) c.3468A= (p.Thr1156=) c.3453A= (p.Thr1151=) c.3432A= (p.Thr1144=) c.3426A= (p.Thr1142=) c.3381A= (p.Thr1127=) c.3372A= (p.Thr1124=) c.3348A= (p.Thr1116=) c.3342A= (p.Thr1114=) c.3315A= (p.Thr1105=) c.3309A= (p.Thr1103=) c.3303A= (p.Thr1101=) c.3264A= (p.Thr1088=) c.3252A= (p.Thr1084=) c.3195A= (p.Thr1065=) c.3171A= (p.Thr1057=) c.3165A= (p.Thr1055=) c.3147A= (p.Thr1049=) c.3093A= (p.Thr1031=) c.3118-203A= (n.3118-203A=) c.2400A= (p.Thr800=) c.2313A= (p.Thr771=) n.3589A= | |
17 | g.39727486A>C | CA499890258 | ERBB2 | c.3351A>C (p.Thr1117=) c.3261A>C (p.Thr1087=) c.2523A>C (p.Thr841=) c.3306A>C (p.Thr1102=) c.*3141A>C (n.*3141A>C) c.3160-203A>C (n.3160-203A>C) n.3675A>C c.3489A>C (p.Thr1163=) c.3444A>C (p.Thr1148=) c.3399A>C (p.Thr1133=) c.3468A>C (p.Thr1156=) c.3453A>C (p.Thr1151=) c.3432A>C (p.Thr1144=) c.3426A>C (p.Thr1142=) c.3381A>C (p.Thr1127=) c.3372A>C (p.Thr1124=) c.3348A>C (p.Thr1116=) c.3342A>C (p.Thr1114=) c.3315A>C (p.Thr1105=) c.3309A>C (p.Thr1103=) c.3303A>C (p.Thr1101=) c.3264A>C (p.Thr1088=) c.3252A>C (p.Thr1084=) c.3195A>C (p.Thr1065=) c.3171A>C (p.Thr1057=) c.3165A>C (p.Thr1055=) c.3147A>C (p.Thr1049=) c.3093A>C (p.Thr1031=) c.3118-203A>C (n.3118-203A>C) c.2400A>C (p.Thr800=) c.2313A>C (p.Thr771=) n.3589A>C | |
17 | g.39727486A>G | CA8534526 | ERBB2 | c.3351A>G (p.Thr1117=) c.3261A>G (p.Thr1087=) c.2523A>G (p.Thr841=) c.3306A>G (p.Thr1102=) c.*3141A>G (n.*3141A>G) c.3160-203A>G (n.3160-203A>G) n.3675A>G c.3489A>G (p.Thr1163=) c.3444A>G (p.Thr1148=) c.3399A>G (p.Thr1133=) c.3468A>G (p.Thr1156=) c.3453A>G (p.Thr1151=) c.3432A>G (p.Thr1144=) c.3426A>G (p.Thr1142=) c.3381A>G (p.Thr1127=) c.3372A>G (p.Thr1124=) c.3348A>G (p.Thr1116=) c.3342A>G (p.Thr1114=) c.3315A>G (p.Thr1105=) c.3309A>G (p.Thr1103=) c.3303A>G (p.Thr1101=) c.3264A>G (p.Thr1088=) c.3252A>G (p.Thr1084=) c.3195A>G (p.Thr1065=) c.3171A>G (p.Thr1057=) c.3165A>G (p.Thr1055=) c.3147A>G (p.Thr1049=) c.3093A>G (p.Thr1031=) c.3118-203A>G (n.3118-203A>G) c.2400A>G (p.Thr800=) c.2313A>G (p.Thr771=) n.3589A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727486A>T | CA499890259 | ERBB2 | c.3351A>T (p.Thr1117=) c.3261A>T (p.Thr1087=) c.2523A>T (p.Thr841=) c.3306A>T (p.Thr1102=) c.*3141A>T (n.*3141A>T) c.3160-203A>T (n.3160-203A>T) n.3675A>T c.3489A>T (p.Thr1163=) c.3444A>T (p.Thr1148=) c.3399A>T (p.Thr1133=) c.3468A>T (p.Thr1156=) c.3453A>T (p.Thr1151=) c.3432A>T (p.Thr1144=) c.3426A>T (p.Thr1142=) c.3381A>T (p.Thr1127=) c.3372A>T (p.Thr1124=) c.3348A>T (p.Thr1116=) c.3342A>T (p.Thr1114=) c.3315A>T (p.Thr1105=) c.3309A>T (p.Thr1103=) c.3303A>T (p.Thr1101=) c.3264A>T (p.Thr1088=) c.3252A>T (p.Thr1084=) c.3195A>T (p.Thr1065=) c.3171A>T (p.Thr1057=) c.3165A>T (p.Thr1055=) c.3147A>T (p.Thr1049=) c.3093A>T (p.Thr1031=) c.3118-203A>T (n.3118-203A>T) c.2400A>T (p.Thr800=) c.2313A>T (p.Thr771=) n.3589A>T | |
17 | g.39727487G>A | CA290443425 | ERBB2 | c.3352G>A (p.Val1118Ile) c.3262G>A (p.Val1088Ile) c.2524G>A (p.Val842Ile) c.3307G>A (p.Val1103Ile) c.*3142G>A (n.*3142G>A) c.3160-202G>A (n.3160-202G>A) n.3676G>A c.3490G>A (p.Val1164Ile) c.3445G>A (p.Val1149Ile) c.3400G>A (p.Val1134Ile) c.3469G>A (p.Val1157Ile) c.3454G>A (p.Val1152Ile) c.3433G>A (p.Val1145Ile) c.3427G>A (p.Val1143Ile) c.3382G>A (p.Val1128Ile) c.3373G>A (p.Val1125Ile) c.3349G>A (p.Val1117Ile) c.3343G>A (p.Val1115Ile) c.3316G>A (p.Val1106Ile) c.3310G>A (p.Val1104Ile) c.3304G>A (p.Val1102Ile) c.3265G>A (p.Val1089Ile) c.3253G>A (p.Val1085Ile) c.3196G>A (p.Val1066Ile) c.3172G>A (p.Val1058Ile) c.3166G>A (p.Val1056Ile) c.3148G>A (p.Val1050Ile) c.3094G>A (p.Val1032Ile) c.3118-202G>A (n.3118-202G>A) c.2401G>A (p.Val801Ile) c.2314G>A (p.Val772Ile) n.3590G>A | dbSNP gnomAD v4 |
17 | g.39727487G>C | CA399312633 | ERBB2 | c.3352G>C (p.Val1118Leu) c.3262G>C (p.Val1088Leu) c.2524G>C (p.Val842Leu) c.3307G>C (p.Val1103Leu) c.*3142G>C (n.*3142G>C) c.3160-202G>C (n.3160-202G>C) n.3676G>C c.3490G>C (p.Val1164Leu) c.3445G>C (p.Val1149Leu) c.3400G>C (p.Val1134Leu) c.3469G>C (p.Val1157Leu) c.3454G>C (p.Val1152Leu) c.3433G>C (p.Val1145Leu) c.3427G>C (p.Val1143Leu) c.3382G>C (p.Val1128Leu) c.3373G>C (p.Val1125Leu) c.3349G>C (p.Val1117Leu) c.3343G>C (p.Val1115Leu) c.3316G>C (p.Val1106Leu) c.3310G>C (p.Val1104Leu) c.3304G>C (p.Val1102Leu) c.3265G>C (p.Val1089Leu) c.3253G>C (p.Val1085Leu) c.3196G>C (p.Val1066Leu) c.3172G>C (p.Val1058Leu) c.3166G>C (p.Val1056Leu) c.3148G>C (p.Val1050Leu) c.3094G>C (p.Val1032Leu) c.3118-202G>C (n.3118-202G>C) c.2401G>C (p.Val801Leu) c.2314G>C (p.Val772Leu) n.3590G>C | dbSNP |
17 | g.39727487G= | CA2259228839 | ERBB2 | c.3352G= (p.Val1118=) c.3262G= (p.Val1088=) c.2524G= (p.Val842=) c.3307G= (p.Val1103=) c.*3142G= (n.*3142G=) c.3160-202G= (n.3160-202G=) n.3676G= c.3490G= (p.Val1164=) c.3445G= (p.Val1149=) c.3400G= (p.Val1134=) c.3469G= (p.Val1157=) c.3454G= (p.Val1152=) c.3433G= (p.Val1145=) c.3427G= (p.Val1143=) c.3382G= (p.Val1128=) c.3373G= (p.Val1125=) c.3349G= (p.Val1117=) c.3343G= (p.Val1115=) c.3316G= (p.Val1106=) c.3310G= (p.Val1104=) c.3304G= (p.Val1102=) c.3265G= (p.Val1089=) c.3253G= (p.Val1085=) c.3196G= (p.Val1066=) c.3172G= (p.Val1058=) c.3166G= (p.Val1056=) c.3148G= (p.Val1050=) c.3094G= (p.Val1032=) c.3118-202G= (n.3118-202G=) c.2401G= (p.Val801=) c.2314G= (p.Val772=) n.3590G= | |
17 | g.39727487G>T | CA399312635 | ERBB2 | c.3352G>T (p.Val1118Leu) c.3262G>T (p.Val1088Leu) c.2524G>T (p.Val842Leu) c.3307G>T (p.Val1103Leu) c.*3142G>T (n.*3142G>T) c.3160-202G>T (n.3160-202G>T) n.3676G>T c.3490G>T (p.Val1164Leu) c.3445G>T (p.Val1149Leu) c.3400G>T (p.Val1134Leu) c.3469G>T (p.Val1157Leu) c.3454G>T (p.Val1152Leu) c.3433G>T (p.Val1145Leu) c.3427G>T (p.Val1143Leu) c.3382G>T (p.Val1128Leu) c.3373G>T (p.Val1125Leu) c.3349G>T (p.Val1117Leu) c.3343G>T (p.Val1115Leu) c.3316G>T (p.Val1106Leu) c.3310G>T (p.Val1104Leu) c.3304G>T (p.Val1102Leu) c.3265G>T (p.Val1089Leu) c.3253G>T (p.Val1085Leu) c.3196G>T (p.Val1066Leu) c.3172G>T (p.Val1058Leu) c.3166G>T (p.Val1056Leu) c.3148G>T (p.Val1050Leu) c.3094G>T (p.Val1032Leu) c.3118-202G>T (n.3118-202G>T) c.2401G>T (p.Val801Leu) c.2314G>T (p.Val772Leu) n.3590G>T | |
17 | g.39727488T>A | CA399312637 | ERBB2 | c.3353T>A (p.Val1118Glu) c.3263T>A (p.Val1088Glu) c.2525T>A (p.Val842Glu) c.3308T>A (p.Val1103Glu) c.*3143T>A (n.*3143T>A) c.3160-201T>A (n.3160-201T>A) n.3677T>A c.3491T>A (p.Val1164Glu) c.3446T>A (p.Val1149Glu) c.3401T>A (p.Val1134Glu) c.3470T>A (p.Val1157Glu) c.3455T>A (p.Val1152Glu) c.3434T>A (p.Val1145Glu) c.3428T>A (p.Val1143Glu) c.3383T>A (p.Val1128Glu) c.3374T>A (p.Val1125Glu) c.3350T>A (p.Val1117Glu) c.3344T>A (p.Val1115Glu) c.3317T>A (p.Val1106Glu) c.3311T>A (p.Val1104Glu) c.3305T>A (p.Val1102Glu) c.3266T>A (p.Val1089Glu) c.3254T>A (p.Val1085Glu) c.3197T>A (p.Val1066Glu) c.3173T>A (p.Val1058Glu) c.3167T>A (p.Val1056Glu) c.3149T>A (p.Val1050Glu) c.3095T>A (p.Val1032Glu) c.3118-201T>A (n.3118-201T>A) c.2402T>A (p.Val801Glu) c.2315T>A (p.Val772Glu) n.3591T>A | dbSNP |
17 | g.39727488T>C | CA399312638 | ERBB2 | c.3353T>C (p.Val1118Ala) c.3263T>C (p.Val1088Ala) c.2525T>C (p.Val842Ala) c.3308T>C (p.Val1103Ala) c.*3143T>C (n.*3143T>C) c.3160-201T>C (n.3160-201T>C) n.3677T>C c.3491T>C (p.Val1164Ala) c.3446T>C (p.Val1149Ala) c.3401T>C (p.Val1134Ala) c.3470T>C (p.Val1157Ala) c.3455T>C (p.Val1152Ala) c.3434T>C (p.Val1145Ala) c.3428T>C (p.Val1143Ala) c.3383T>C (p.Val1128Ala) c.3374T>C (p.Val1125Ala) c.3350T>C (p.Val1117Ala) c.3344T>C (p.Val1115Ala) c.3317T>C (p.Val1106Ala) c.3311T>C (p.Val1104Ala) c.3305T>C (p.Val1102Ala) c.3266T>C (p.Val1089Ala) c.3254T>C (p.Val1085Ala) c.3197T>C (p.Val1066Ala) c.3173T>C (p.Val1058Ala) c.3167T>C (p.Val1056Ala) c.3149T>C (p.Val1050Ala) c.3095T>C (p.Val1032Ala) c.3118-201T>C (n.3118-201T>C) c.2402T>C (p.Val801Ala) c.2315T>C (p.Val772Ala) n.3591T>C | dbSNP |
17 | g.39727488T>G | CA399312639 | ERBB2 | c.3353T>G (p.Val1118Gly) c.3263T>G (p.Val1088Gly) c.2525T>G (p.Val842Gly) c.3308T>G (p.Val1103Gly) c.*3143T>G (n.*3143T>G) c.3160-201T>G (n.3160-201T>G) n.3677T>G c.3491T>G (p.Val1164Gly) c.3446T>G (p.Val1149Gly) c.3401T>G (p.Val1134Gly) c.3470T>G (p.Val1157Gly) c.3455T>G (p.Val1152Gly) c.3434T>G (p.Val1145Gly) c.3428T>G (p.Val1143Gly) c.3383T>G (p.Val1128Gly) c.3374T>G (p.Val1125Gly) c.3350T>G (p.Val1117Gly) c.3344T>G (p.Val1115Gly) c.3317T>G (p.Val1106Gly) c.3311T>G (p.Val1104Gly) c.3305T>G (p.Val1102Gly) c.3266T>G (p.Val1089Gly) c.3254T>G (p.Val1085Gly) c.3197T>G (p.Val1066Gly) c.3173T>G (p.Val1058Gly) c.3167T>G (p.Val1056Gly) c.3149T>G (p.Val1050Gly) c.3095T>G (p.Val1032Gly) c.3118-201T>G (n.3118-201T>G) c.2402T>G (p.Val801Gly) c.2315T>G (p.Val772Gly) n.3591T>G | dbSNP |
17 | g.39727489A>C | CA499890262 | ERBB2 | c.3354A>C (p.Val1118=) c.3264A>C (p.Val1088=) c.2526A>C (p.Val842=) c.3309A>C (p.Val1103=) c.*3144A>C (n.*3144A>C) c.3160-200A>C (n.3160-200A>C) n.3678A>C c.3492A>C (p.Val1164=) c.3447A>C (p.Val1149=) c.3402A>C (p.Val1134=) c.3471A>C (p.Val1157=) c.3456A>C (p.Val1152=) c.3435A>C (p.Val1145=) c.3429A>C (p.Val1143=) c.3384A>C (p.Val1128=) c.3375A>C (p.Val1125=) c.3351A>C (p.Val1117=) c.3345A>C (p.Val1115=) c.3318A>C (p.Val1106=) c.3312A>C (p.Val1104=) c.3306A>C (p.Val1102=) c.3267A>C (p.Val1089=) c.3255A>C (p.Val1085=) c.3198A>C (p.Val1066=) c.3174A>C (p.Val1058=) c.3168A>C (p.Val1056=) c.3150A>C (p.Val1050=) c.3096A>C (p.Val1032=) c.3118-200A>C (n.3118-200A>C) c.2403A>C (p.Val801=) c.2316A>C (p.Val772=) n.3592A>C | |
17 | g.39727489A>G | CA499890261 | ERBB2 | c.3354A>G (p.Val1118=) c.3264A>G (p.Val1088=) c.2526A>G (p.Val842=) c.3309A>G (p.Val1103=) c.*3144A>G (n.*3144A>G) c.3160-200A>G (n.3160-200A>G) n.3678A>G c.3492A>G (p.Val1164=) c.3447A>G (p.Val1149=) c.3402A>G (p.Val1134=) c.3471A>G (p.Val1157=) c.3456A>G (p.Val1152=) c.3435A>G (p.Val1145=) c.3429A>G (p.Val1143=) c.3384A>G (p.Val1128=) c.3375A>G (p.Val1125=) c.3351A>G (p.Val1117=) c.3345A>G (p.Val1115=) c.3318A>G (p.Val1106=) c.3312A>G (p.Val1104=) c.3306A>G (p.Val1102=) c.3267A>G (p.Val1089=) c.3255A>G (p.Val1085=) c.3198A>G (p.Val1066=) c.3174A>G (p.Val1058=) c.3168A>G (p.Val1056=) c.3150A>G (p.Val1050=) c.3096A>G (p.Val1032=) c.3118-200A>G (n.3118-200A>G) c.2403A>G (p.Val801=) c.2316A>G (p.Val772=) n.3592A>G | |
17 | g.39727489A>T | CA499890260 | ERBB2 | c.3354A>T (p.Val1118=) c.3264A>T (p.Val1088=) c.2526A>T (p.Val842=) c.3309A>T (p.Val1103=) c.*3144A>T (n.*3144A>T) c.3160-200A>T (n.3160-200A>T) n.3678A>T c.3492A>T (p.Val1164=) c.3447A>T (p.Val1149=) c.3402A>T (p.Val1134=) c.3471A>T (p.Val1157=) c.3456A>T (p.Val1152=) c.3435A>T (p.Val1145=) c.3429A>T (p.Val1143=) c.3384A>T (p.Val1128=) c.3375A>T (p.Val1125=) c.3351A>T (p.Val1117=) c.3345A>T (p.Val1115=) c.3318A>T (p.Val1106=) c.3312A>T (p.Val1104=) c.3306A>T (p.Val1102=) c.3267A>T (p.Val1089=) c.3255A>T (p.Val1085=) c.3198A>T (p.Val1066=) c.3174A>T (p.Val1058=) c.3168A>T (p.Val1056=) c.3150A>T (p.Val1050=) c.3096A>T (p.Val1032=) c.3118-200A>T (n.3118-200A>T) c.2403A>T (p.Val801=) c.2316A>T (p.Val772=) n.3592A>T | |
17 | g.39727490C>A | CA399312642 | ERBB2 | c.3355C>A (p.Pro1119Thr) c.3265C>A (p.Pro1089Thr) c.2527C>A (p.Pro843Thr) c.3310C>A (p.Pro1104Thr) c.*3145C>A (n.*3145C>A) c.3160-199C>A (n.3160-199C>A) n.3679C>A c.3493C>A (p.Pro1165Thr) c.3448C>A (p.Pro1150Thr) c.3403C>A (p.Pro1135Thr) c.3472C>A (p.Pro1158Thr) c.3457C>A (p.Pro1153Thr) c.3436C>A (p.Pro1146Thr) c.3430C>A (p.Pro1144Thr) c.3385C>A (p.Pro1129Thr) c.3376C>A (p.Pro1126Thr) c.3352C>A (p.Pro1118Thr) c.3346C>A (p.Pro1116Thr) c.3319C>A (p.Pro1107Thr) c.3313C>A (p.Pro1105Thr) c.3307C>A (p.Pro1103Thr) c.3268C>A (p.Pro1090Thr) c.3256C>A (p.Pro1086Thr) c.3199C>A (p.Pro1067Thr) c.3175C>A (p.Pro1059Thr) c.3169C>A (p.Pro1057Thr) c.3151C>A (p.Pro1051Thr) c.3097C>A (p.Pro1033Thr) c.3118-199C>A (n.3118-199C>A) c.2404C>A (p.Pro802Thr) c.2317C>A (p.Pro773Thr) n.3593C>A | dbSNP |
17 | g.39727490C>G | CA399312645 | ERBB2 | c.3355C>G (p.Pro1119Ala) c.3265C>G (p.Pro1089Ala) c.2527C>G (p.Pro843Ala) c.3310C>G (p.Pro1104Ala) c.*3145C>G (n.*3145C>G) c.3160-199C>G (n.3160-199C>G) n.3679C>G c.3493C>G (p.Pro1165Ala) c.3448C>G (p.Pro1150Ala) c.3403C>G (p.Pro1135Ala) c.3472C>G (p.Pro1158Ala) c.3457C>G (p.Pro1153Ala) c.3436C>G (p.Pro1146Ala) c.3430C>G (p.Pro1144Ala) c.3385C>G (p.Pro1129Ala) c.3376C>G (p.Pro1126Ala) c.3352C>G (p.Pro1118Ala) c.3346C>G (p.Pro1116Ala) c.3319C>G (p.Pro1107Ala) c.3313C>G (p.Pro1105Ala) c.3307C>G (p.Pro1103Ala) c.3268C>G (p.Pro1090Ala) c.3256C>G (p.Pro1086Ala) c.3199C>G (p.Pro1067Ala) c.3175C>G (p.Pro1059Ala) c.3169C>G (p.Pro1057Ala) c.3151C>G (p.Pro1051Ala) c.3097C>G (p.Pro1033Ala) c.3118-199C>G (n.3118-199C>G) c.2404C>G (p.Pro802Ala) c.2317C>G (p.Pro773Ala) n.3593C>G | dbSNP |
17 | g.39727490C>T | CA399312644 | ERBB2 | c.3355C>T (p.Pro1119Ser) c.3265C>T (p.Pro1089Ser) c.2527C>T (p.Pro843Ser) c.3310C>T (p.Pro1104Ser) c.*3145C>T (n.*3145C>T) c.3160-199C>T (n.3160-199C>T) n.3679C>T c.3493C>T (p.Pro1165Ser) c.3448C>T (p.Pro1150Ser) c.3403C>T (p.Pro1135Ser) c.3472C>T (p.Pro1158Ser) c.3457C>T (p.Pro1153Ser) c.3436C>T (p.Pro1146Ser) c.3430C>T (p.Pro1144Ser) c.3385C>T (p.Pro1129Ser) c.3376C>T (p.Pro1126Ser) c.3352C>T (p.Pro1118Ser) c.3346C>T (p.Pro1116Ser) c.3319C>T (p.Pro1107Ser) c.3313C>T (p.Pro1105Ser) c.3307C>T (p.Pro1103Ser) c.3268C>T (p.Pro1090Ser) c.3256C>T (p.Pro1086Ser) c.3199C>T (p.Pro1067Ser) c.3175C>T (p.Pro1059Ser) c.3169C>T (p.Pro1057Ser) c.3151C>T (p.Pro1051Ser) c.3097C>T (p.Pro1033Ser) c.3118-199C>T (n.3118-199C>T) c.2404C>T (p.Pro802Ser) c.2317C>T (p.Pro773Ser) n.3593C>T | dbSNP |
17 | g.39727491C>A | CA399312647 | ERBB2 | c.3356C>A (p.Pro1119His) c.3266C>A (p.Pro1089His) c.2528C>A (p.Pro843His) c.3311C>A (p.Pro1104His) c.*3146C>A (n.*3146C>A) c.3160-198C>A (n.3160-198C>A) n.3680C>A c.3494C>A (p.Pro1165His) c.3449C>A (p.Pro1150His) c.3404C>A (p.Pro1135His) c.3473C>A (p.Pro1158His) c.3458C>A (p.Pro1153His) c.3437C>A (p.Pro1146His) c.3431C>A (p.Pro1144His) c.3386C>A (p.Pro1129His) c.3377C>A (p.Pro1126His) c.3353C>A (p.Pro1118His) c.3347C>A (p.Pro1116His) c.3320C>A (p.Pro1107His) c.3314C>A (p.Pro1105His) c.3308C>A (p.Pro1103His) c.3269C>A (p.Pro1090His) c.3257C>A (p.Pro1086His) c.3200C>A (p.Pro1067His) c.3176C>A (p.Pro1059His) c.3170C>A (p.Pro1057His) c.3152C>A (p.Pro1051His) c.3098C>A (p.Pro1033His) c.3118-198C>A (n.3118-198C>A) c.2405C>A (p.Pro802His) c.2318C>A (p.Pro773His) n.3594C>A | |
17 | g.39727491C= | CA2259228841 | ERBB2 | c.3356C= (p.Pro1119=) c.3266C= (p.Pro1089=) c.2528C= (p.Pro843=) c.3311C= (p.Pro1104=) c.*3146C= (n.*3146C=) c.3160-198C= (n.3160-198C=) n.3680C= c.3494C= (p.Pro1165=) c.3449C= (p.Pro1150=) c.3404C= (p.Pro1135=) c.3473C= (p.Pro1158=) c.3458C= (p.Pro1153=) c.3437C= (p.Pro1146=) c.3431C= (p.Pro1144=) c.3386C= (p.Pro1129=) c.3377C= (p.Pro1126=) c.3353C= (p.Pro1118=) c.3347C= (p.Pro1116=) c.3320C= (p.Pro1107=) c.3314C= (p.Pro1105=) c.3308C= (p.Pro1103=) c.3269C= (p.Pro1090=) c.3257C= (p.Pro1086=) c.3200C= (p.Pro1067=) c.3176C= (p.Pro1059=) c.3170C= (p.Pro1057=) c.3152C= (p.Pro1051=) c.3098C= (p.Pro1033=) c.3118-198C= (n.3118-198C=) c.2405C= (p.Pro802=) c.2318C= (p.Pro773=) n.3594C= | |
17 | g.39727491C>G | CA399312649 | ERBB2 | c.3356C>G (p.Pro1119Arg) c.3266C>G (p.Pro1089Arg) c.2528C>G (p.Pro843Arg) c.3311C>G (p.Pro1104Arg) c.*3146C>G (n.*3146C>G) c.3160-198C>G (n.3160-198C>G) n.3680C>G c.3494C>G (p.Pro1165Arg) c.3449C>G (p.Pro1150Arg) c.3404C>G (p.Pro1135Arg) c.3473C>G (p.Pro1158Arg) c.3458C>G (p.Pro1153Arg) c.3437C>G (p.Pro1146Arg) c.3431C>G (p.Pro1144Arg) c.3386C>G (p.Pro1129Arg) c.3377C>G (p.Pro1126Arg) c.3353C>G (p.Pro1118Arg) c.3347C>G (p.Pro1116Arg) c.3320C>G (p.Pro1107Arg) c.3314C>G (p.Pro1105Arg) c.3308C>G (p.Pro1103Arg) c.3269C>G (p.Pro1090Arg) c.3257C>G (p.Pro1086Arg) c.3200C>G (p.Pro1067Arg) c.3176C>G (p.Pro1059Arg) c.3170C>G (p.Pro1057Arg) c.3152C>G (p.Pro1051Arg) c.3098C>G (p.Pro1033Arg) c.3118-198C>G (n.3118-198C>G) c.2405C>G (p.Pro802Arg) c.2318C>G (p.Pro773Arg) n.3594C>G | |
17 | g.39727491C>T | CA399312651 | ERBB2 | c.3356C>T (p.Pro1119Leu) c.3266C>T (p.Pro1089Leu) c.2528C>T (p.Pro843Leu) c.3311C>T (p.Pro1104Leu) c.*3146C>T (n.*3146C>T) c.3160-198C>T (n.3160-198C>T) n.3680C>T c.3494C>T (p.Pro1165Leu) c.3449C>T (p.Pro1150Leu) c.3404C>T (p.Pro1135Leu) c.3473C>T (p.Pro1158Leu) c.3458C>T (p.Pro1153Leu) c.3437C>T (p.Pro1146Leu) c.3431C>T (p.Pro1144Leu) c.3386C>T (p.Pro1129Leu) c.3377C>T (p.Pro1126Leu) c.3353C>T (p.Pro1118Leu) c.3347C>T (p.Pro1116Leu) c.3320C>T (p.Pro1107Leu) c.3314C>T (p.Pro1105Leu) c.3308C>T (p.Pro1103Leu) c.3269C>T (p.Pro1090Leu) c.3257C>T (p.Pro1086Leu) c.3200C>T (p.Pro1067Leu) c.3176C>T (p.Pro1059Leu) c.3170C>T (p.Pro1057Leu) c.3152C>T (p.Pro1051Leu) c.3098C>T (p.Pro1033Leu) c.3118-198C>T (n.3118-198C>T) c.2405C>T (p.Pro802Leu) c.2318C>T (p.Pro773Leu) n.3594C>T | dbSNP gnomAD v4 |
17 | g.39727492C>A | CA499890263 | ERBB2 | c.3357C>A (p.Pro1119=) c.3267C>A (p.Pro1089=) c.2529C>A (p.Pro843=) c.3312C>A (p.Pro1104=) c.*3147C>A (n.*3147C>A) c.3160-197C>A (n.3160-197C>A) n.3681C>A c.3495C>A (p.Pro1165=) c.3450C>A (p.Pro1150=) c.3405C>A (p.Pro1135=) c.3474C>A (p.Pro1158=) c.3459C>A (p.Pro1153=) c.3438C>A (p.Pro1146=) c.3432C>A (p.Pro1144=) c.3387C>A (p.Pro1129=) c.3378C>A (p.Pro1126=) c.3354C>A (p.Pro1118=) c.3348C>A (p.Pro1116=) c.3321C>A (p.Pro1107=) c.3315C>A (p.Pro1105=) c.3309C>A (p.Pro1103=) c.3270C>A (p.Pro1090=) c.3258C>A (p.Pro1086=) c.3201C>A (p.Pro1067=) c.3177C>A (p.Pro1059=) c.3171C>A (p.Pro1057=) c.3153C>A (p.Pro1051=) c.3099C>A (p.Pro1033=) c.3118-197C>A (n.3118-197C>A) c.2406C>A (p.Pro802=) c.2319C>A (p.Pro773=) n.3595C>A | |
17 | g.39727492C>G | CA499890265 | ERBB2 | c.3357C>G (p.Pro1119=) c.3267C>G (p.Pro1089=) c.2529C>G (p.Pro843=) c.3312C>G (p.Pro1104=) c.*3147C>G (n.*3147C>G) c.3160-197C>G (n.3160-197C>G) n.3681C>G c.3495C>G (p.Pro1165=) c.3450C>G (p.Pro1150=) c.3405C>G (p.Pro1135=) c.3474C>G (p.Pro1158=) c.3459C>G (p.Pro1153=) c.3438C>G (p.Pro1146=) c.3432C>G (p.Pro1144=) c.3387C>G (p.Pro1129=) c.3378C>G (p.Pro1126=) c.3354C>G (p.Pro1118=) c.3348C>G (p.Pro1116=) c.3321C>G (p.Pro1107=) c.3315C>G (p.Pro1105=) c.3309C>G (p.Pro1103=) c.3270C>G (p.Pro1090=) c.3258C>G (p.Pro1086=) c.3201C>G (p.Pro1067=) c.3177C>G (p.Pro1059=) c.3171C>G (p.Pro1057=) c.3153C>G (p.Pro1051=) c.3099C>G (p.Pro1033=) c.3118-197C>G (n.3118-197C>G) c.2406C>G (p.Pro802=) c.2319C>G (p.Pro773=) n.3595C>G | |
17 | g.39727492C>T | CA499890264 | ERBB2 | c.3357C>T (p.Pro1119=) c.3267C>T (p.Pro1089=) c.2529C>T (p.Pro843=) c.3312C>T (p.Pro1104=) c.*3147C>T (n.*3147C>T) c.3160-197C>T (n.3160-197C>T) n.3681C>T c.3495C>T (p.Pro1165=) c.3450C>T (p.Pro1150=) c.3405C>T (p.Pro1135=) c.3474C>T (p.Pro1158=) c.3459C>T (p.Pro1153=) c.3438C>T (p.Pro1146=) c.3432C>T (p.Pro1144=) c.3387C>T (p.Pro1129=) c.3378C>T (p.Pro1126=) c.3354C>T (p.Pro1118=) c.3348C>T (p.Pro1116=) c.3321C>T (p.Pro1107=) c.3315C>T (p.Pro1105=) c.3309C>T (p.Pro1103=) c.3270C>T (p.Pro1090=) c.3258C>T (p.Pro1086=) c.3201C>T (p.Pro1067=) c.3177C>T (p.Pro1059=) c.3171C>T (p.Pro1057=) c.3153C>T (p.Pro1051=) c.3099C>T (p.Pro1033=) c.3118-197C>T (n.3118-197C>T) c.2406C>T (p.Pro802=) c.2319C>T (p.Pro773=) n.3595C>T | |
17 | g.39727493C>A | CA399312653 | ERBB2 | c.3358C>A (p.Leu1120Met) c.3268C>A (p.Leu1090Met) c.2530C>A (p.Leu844Met) c.3313C>A (p.Leu1105Met) c.*3148C>A (n.*3148C>A) c.3160-196C>A (n.3160-196C>A) n.3682C>A c.3496C>A (p.Leu1166Met) c.3451C>A (p.Leu1151Met) c.3406C>A (p.Leu1136Met) c.3475C>A (p.Leu1159Met) c.3460C>A (p.Leu1154Met) c.3439C>A (p.Leu1147Met) c.3433C>A (p.Leu1145Met) c.3388C>A (p.Leu1130Met) c.3379C>A (p.Leu1127Met) c.3355C>A (p.Leu1119Met) c.3349C>A (p.Leu1117Met) c.3322C>A (p.Leu1108Met) c.3316C>A (p.Leu1106Met) c.3310C>A (p.Leu1104Met) c.3271C>A (p.Leu1091Met) c.3259C>A (p.Leu1087Met) c.3202C>A (p.Leu1068Met) c.3178C>A (p.Leu1060Met) c.3172C>A (p.Leu1058Met) c.3154C>A (p.Leu1052Met) c.3100C>A (p.Leu1034Met) c.3118-196C>A (n.3118-196C>A) c.2407C>A (p.Leu803Met) c.2320C>A (p.Leu774Met) n.3596C>A | |
17 | g.39727493C= | CA2259228842 | ERBB2 | c.3358C= (p.Leu1120=) c.3268C= (p.Leu1090=) c.2530C= (p.Leu844=) c.3313C= (p.Leu1105=) c.*3148C= (n.*3148C=) c.3160-196C= (n.3160-196C=) n.3682C= c.3496C= (p.Leu1166=) c.3451C= (p.Leu1151=) c.3406C= (p.Leu1136=) c.3475C= (p.Leu1159=) c.3460C= (p.Leu1154=) c.3439C= (p.Leu1147=) c.3433C= (p.Leu1145=) c.3388C= (p.Leu1130=) c.3379C= (p.Leu1127=) c.3355C= (p.Leu1119=) c.3349C= (p.Leu1117=) c.3322C= (p.Leu1108=) c.3316C= (p.Leu1106=) c.3310C= (p.Leu1104=) c.3271C= (p.Leu1091=) c.3259C= (p.Leu1087=) c.3202C= (p.Leu1068=) c.3178C= (p.Leu1060=) c.3172C= (p.Leu1058=) c.3154C= (p.Leu1052=) c.3100C= (p.Leu1034=) c.3118-196C= (n.3118-196C=) c.2407C= (p.Leu803=) c.2320C= (p.Leu774=) n.3596C= | |
17 | g.39727493C>G | CA399312654 | ERBB2 | c.3358C>G (p.Leu1120Val) c.3268C>G (p.Leu1090Val) c.2530C>G (p.Leu844Val) c.3313C>G (p.Leu1105Val) c.*3148C>G (n.*3148C>G) c.3160-196C>G (n.3160-196C>G) n.3682C>G c.3496C>G (p.Leu1166Val) c.3451C>G (p.Leu1151Val) c.3406C>G (p.Leu1136Val) c.3475C>G (p.Leu1159Val) c.3460C>G (p.Leu1154Val) c.3439C>G (p.Leu1147Val) c.3433C>G (p.Leu1145Val) c.3388C>G (p.Leu1130Val) c.3379C>G (p.Leu1127Val) c.3355C>G (p.Leu1119Val) c.3349C>G (p.Leu1117Val) c.3322C>G (p.Leu1108Val) c.3316C>G (p.Leu1106Val) c.3310C>G (p.Leu1104Val) c.3271C>G (p.Leu1091Val) c.3259C>G (p.Leu1087Val) c.3202C>G (p.Leu1068Val) c.3178C>G (p.Leu1060Val) c.3172C>G (p.Leu1058Val) c.3154C>G (p.Leu1052Val) c.3100C>G (p.Leu1034Val) c.3118-196C>G (n.3118-196C>G) c.2407C>G (p.Leu803Val) c.2320C>G (p.Leu774Val) n.3596C>G | |
17 | g.39727493C>T | CA499890266 | ERBB2 | c.3358C>T (p.Leu1120=) c.3268C>T (p.Leu1090=) c.2530C>T (p.Leu844=) c.3313C>T (p.Leu1105=) c.*3148C>T (n.*3148C>T) c.3160-196C>T (n.3160-196C>T) n.3682C>T c.3496C>T (p.Leu1166=) c.3451C>T (p.Leu1151=) c.3406C>T (p.Leu1136=) c.3475C>T (p.Leu1159=) c.3460C>T (p.Leu1154=) c.3439C>T (p.Leu1147=) c.3433C>T (p.Leu1145=) c.3388C>T (p.Leu1130=) c.3379C>T (p.Leu1127=) c.3355C>T (p.Leu1119=) c.3349C>T (p.Leu1117=) c.3322C>T (p.Leu1108=) c.3316C>T (p.Leu1106=) c.3310C>T (p.Leu1104=) c.3271C>T (p.Leu1091=) c.3259C>T (p.Leu1087=) c.3202C>T (p.Leu1068=) c.3178C>T (p.Leu1060=) c.3172C>T (p.Leu1058=) c.3154C>T (p.Leu1052=) c.3100C>T (p.Leu1034=) c.3118-196C>T (n.3118-196C>T) c.2407C>T (p.Leu803=) c.2320C>T (p.Leu774=) n.3596C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39727494T>A | CA399312657 | ERBB2 | c.3359T>A (p.Leu1120Gln) c.3269T>A (p.Leu1090Gln) c.2531T>A (p.Leu844Gln) c.3314T>A (p.Leu1105Gln) c.*3149T>A (n.*3149T>A) c.3160-195T>A (n.3160-195T>A) n.3683T>A c.3497T>A (p.Leu1166Gln) c.3452T>A (p.Leu1151Gln) c.3407T>A (p.Leu1136Gln) c.3476T>A (p.Leu1159Gln) c.3461T>A (p.Leu1154Gln) c.3440T>A (p.Leu1147Gln) c.3434T>A (p.Leu1145Gln) c.3389T>A (p.Leu1130Gln) c.3380T>A (p.Leu1127Gln) c.3356T>A (p.Leu1119Gln) c.3350T>A (p.Leu1117Gln) c.3323T>A (p.Leu1108Gln) c.3317T>A (p.Leu1106Gln) c.3311T>A (p.Leu1104Gln) c.3272T>A (p.Leu1091Gln) c.3260T>A (p.Leu1087Gln) c.3203T>A (p.Leu1068Gln) c.3179T>A (p.Leu1060Gln) c.3173T>A (p.Leu1058Gln) c.3155T>A (p.Leu1052Gln) c.3101T>A (p.Leu1034Gln) c.3118-195T>A (n.3118-195T>A) c.2408T>A (p.Leu803Gln) c.2321T>A (p.Leu774Gln) n.3597T>A | dbSNP |
17 | g.39727494T>C | CA399312658 | ERBB2 | c.3359T>C (p.Leu1120Pro) c.3269T>C (p.Leu1090Pro) c.2531T>C (p.Leu844Pro) c.3314T>C (p.Leu1105Pro) c.*3149T>C (n.*3149T>C) c.3160-195T>C (n.3160-195T>C) n.3683T>C c.3497T>C (p.Leu1166Pro) c.3452T>C (p.Leu1151Pro) c.3407T>C (p.Leu1136Pro) c.3476T>C (p.Leu1159Pro) c.3461T>C (p.Leu1154Pro) c.3440T>C (p.Leu1147Pro) c.3434T>C (p.Leu1145Pro) c.3389T>C (p.Leu1130Pro) c.3380T>C (p.Leu1127Pro) c.3356T>C (p.Leu1119Pro) c.3350T>C (p.Leu1117Pro) c.3323T>C (p.Leu1108Pro) c.3317T>C (p.Leu1106Pro) c.3311T>C (p.Leu1104Pro) c.3272T>C (p.Leu1091Pro) c.3260T>C (p.Leu1087Pro) c.3203T>C (p.Leu1068Pro) c.3179T>C (p.Leu1060Pro) c.3173T>C (p.Leu1058Pro) c.3155T>C (p.Leu1052Pro) c.3101T>C (p.Leu1034Pro) c.3118-195T>C (n.3118-195T>C) c.2408T>C (p.Leu803Pro) c.2321T>C (p.Leu774Pro) n.3597T>C | dbSNP |
17 | g.39727494T>G | CA399312660 | ERBB2 | c.3359T>G (p.Leu1120Arg) c.3269T>G (p.Leu1090Arg) c.2531T>G (p.Leu844Arg) c.3314T>G (p.Leu1105Arg) c.*3149T>G (n.*3149T>G) c.3160-195T>G (n.3160-195T>G) n.3683T>G c.3497T>G (p.Leu1166Arg) c.3452T>G (p.Leu1151Arg) c.3407T>G (p.Leu1136Arg) c.3476T>G (p.Leu1159Arg) c.3461T>G (p.Leu1154Arg) c.3440T>G (p.Leu1147Arg) c.3434T>G (p.Leu1145Arg) c.3389T>G (p.Leu1130Arg) c.3380T>G (p.Leu1127Arg) c.3356T>G (p.Leu1119Arg) c.3350T>G (p.Leu1117Arg) c.3323T>G (p.Leu1108Arg) c.3317T>G (p.Leu1106Arg) c.3311T>G (p.Leu1104Arg) c.3272T>G (p.Leu1091Arg) c.3260T>G (p.Leu1087Arg) c.3203T>G (p.Leu1068Arg) c.3179T>G (p.Leu1060Arg) c.3173T>G (p.Leu1058Arg) c.3155T>G (p.Leu1052Arg) c.3101T>G (p.Leu1034Arg) c.3118-195T>G (n.3118-195T>G) c.2408T>G (p.Leu803Arg) c.2321T>G (p.Leu774Arg) n.3597T>G | |
17 | g.39727495G>A | CA290443426 | ERBB2 | c.3360G>A (p.Leu1120=) c.3270G>A (p.Leu1090=) c.2532G>A (p.Leu844=) c.3315G>A (p.Leu1105=) c.*3150G>A (n.*3150G>A) c.3160-194G>A (n.3160-194G>A) n.3684G>A c.3498G>A (p.Leu1166=) c.3453G>A (p.Leu1151=) c.3408G>A (p.Leu1136=) c.3477G>A (p.Leu1159=) c.3462G>A (p.Leu1154=) c.3441G>A (p.Leu1147=) c.3435G>A (p.Leu1145=) c.3390G>A (p.Leu1130=) c.3381G>A (p.Leu1127=) c.3357G>A (p.Leu1119=) c.3351G>A (p.Leu1117=) c.3324G>A (p.Leu1108=) c.3318G>A (p.Leu1106=) c.3312G>A (p.Leu1104=) c.3273G>A (p.Leu1091=) c.3261G>A (p.Leu1087=) c.3204G>A (p.Leu1068=) c.3180G>A (p.Leu1060=) c.3174G>A (p.Leu1058=) c.3156G>A (p.Leu1052=) c.3102G>A (p.Leu1034=) c.3118-194G>A (n.3118-194G>A) c.2409G>A (p.Leu803=) c.2322G>A (p.Leu774=) n.3598G>A | ClinVar dbSNP gnomAD v4 |
17 | g.39727495G>C | CA499890267 | ERBB2 | c.3360G>C (p.Leu1120=) c.3270G>C (p.Leu1090=) c.2532G>C (p.Leu844=) c.3315G>C (p.Leu1105=) c.*3150G>C (n.*3150G>C) c.3160-194G>C (n.3160-194G>C) n.3684G>C c.3498G>C (p.Leu1166=) c.3453G>C (p.Leu1151=) c.3408G>C (p.Leu1136=) c.3477G>C (p.Leu1159=) c.3462G>C (p.Leu1154=) c.3441G>C (p.Leu1147=) c.3435G>C (p.Leu1145=) c.3390G>C (p.Leu1130=) c.3381G>C (p.Leu1127=) c.3357G>C (p.Leu1119=) c.3351G>C (p.Leu1117=) c.3324G>C (p.Leu1108=) c.3318G>C (p.Leu1106=) c.3312G>C (p.Leu1104=) c.3273G>C (p.Leu1091=) c.3261G>C (p.Leu1087=) c.3204G>C (p.Leu1068=) c.3180G>C (p.Leu1060=) c.3174G>C (p.Leu1058=) c.3156G>C (p.Leu1052=) c.3102G>C (p.Leu1034=) c.3118-194G>C (n.3118-194G>C) c.2409G>C (p.Leu803=) c.2322G>C (p.Leu774=) n.3598G>C | |
17 | g.39727495G= | CA2259228844 | ERBB2 | c.3360G= (p.Leu1120=) c.3270G= (p.Leu1090=) c.2532G= (p.Leu844=) c.3315G= (p.Leu1105=) c.*3150G= (n.*3150G=) c.3160-194G= (n.3160-194G=) n.3684G= c.3498G= (p.Leu1166=) c.3453G= (p.Leu1151=) c.3408G= (p.Leu1136=) c.3477G= (p.Leu1159=) c.3462G= (p.Leu1154=) c.3441G= (p.Leu1147=) c.3435G= (p.Leu1145=) c.3390G= (p.Leu1130=) c.3381G= (p.Leu1127=) c.3357G= (p.Leu1119=) c.3351G= (p.Leu1117=) c.3324G= (p.Leu1108=) c.3318G= (p.Leu1106=) c.3312G= (p.Leu1104=) c.3273G= (p.Leu1091=) c.3261G= (p.Leu1087=) c.3204G= (p.Leu1068=) c.3180G= (p.Leu1060=) c.3174G= (p.Leu1058=) c.3156G= (p.Leu1052=) c.3102G= (p.Leu1034=) c.3118-194G= (n.3118-194G=) c.2409G= (p.Leu803=) c.2322G= (p.Leu774=) n.3598G= | |
17 | g.39727495G>T | CA499890268 | ERBB2 | c.3360G>T (p.Leu1120=) c.3270G>T (p.Leu1090=) c.2532G>T (p.Leu844=) c.3315G>T (p.Leu1105=) c.*3150G>T (n.*3150G>T) c.3160-194G>T (n.3160-194G>T) n.3684G>T c.3498G>T (p.Leu1166=) c.3453G>T (p.Leu1151=) c.3408G>T (p.Leu1136=) c.3477G>T (p.Leu1159=) c.3462G>T (p.Leu1154=) c.3441G>T (p.Leu1147=) c.3435G>T (p.Leu1145=) c.3390G>T (p.Leu1130=) c.3381G>T (p.Leu1127=) c.3357G>T (p.Leu1119=) c.3351G>T (p.Leu1117=) c.3324G>T (p.Leu1108=) c.3318G>T (p.Leu1106=) c.3312G>T (p.Leu1104=) c.3273G>T (p.Leu1091=) c.3261G>T (p.Leu1087=) c.3204G>T (p.Leu1068=) c.3180G>T (p.Leu1060=) c.3174G>T (p.Leu1058=) c.3156G>T (p.Leu1052=) c.3102G>T (p.Leu1034=) c.3118-194G>T (n.3118-194G>T) c.2409G>T (p.Leu803=) c.2322G>T (p.Leu774=) n.3598G>T | |
17 | g.39727496C>A | CA399312665 | ERBB2 | c.3361C>A (p.Pro1121Thr) c.3271C>A (p.Pro1091Thr) c.2533C>A (p.Pro845Thr) c.3316C>A (p.Pro1106Thr) c.*3151C>A (n.*3151C>A) c.3160-193C>A (n.3160-193C>A) n.3685C>A c.3499C>A (p.Pro1167Thr) c.3454C>A (p.Pro1152Thr) c.3409C>A (p.Pro1137Thr) c.3478C>A (p.Pro1160Thr) c.3463C>A (p.Pro1155Thr) c.3442C>A (p.Pro1148Thr) c.3436C>A (p.Pro1146Thr) c.3391C>A (p.Pro1131Thr) c.3382C>A (p.Pro1128Thr) c.3358C>A (p.Pro1120Thr) c.3352C>A (p.Pro1118Thr) c.3325C>A (p.Pro1109Thr) c.3319C>A (p.Pro1107Thr) c.3313C>A (p.Pro1105Thr) c.3274C>A (p.Pro1092Thr) c.3262C>A (p.Pro1088Thr) c.3205C>A (p.Pro1069Thr) c.3181C>A (p.Pro1061Thr) c.3175C>A (p.Pro1059Thr) c.3157C>A (p.Pro1053Thr) c.3103C>A (p.Pro1035Thr) c.3118-193C>A (n.3118-193C>A) c.2410C>A (p.Pro804Thr) c.2323C>A (p.Pro775Thr) n.3599C>A | dbSNP gnomAD v4 |
17 | g.39727496C>G | CA399312664 | ERBB2 | c.3361C>G (p.Pro1121Ala) c.3271C>G (p.Pro1091Ala) c.2533C>G (p.Pro845Ala) c.3316C>G (p.Pro1106Ala) c.*3151C>G (n.*3151C>G) c.3160-193C>G (n.3160-193C>G) n.3685C>G c.3499C>G (p.Pro1167Ala) c.3454C>G (p.Pro1152Ala) c.3409C>G (p.Pro1137Ala) c.3478C>G (p.Pro1160Ala) c.3463C>G (p.Pro1155Ala) c.3442C>G (p.Pro1148Ala) c.3436C>G (p.Pro1146Ala) c.3391C>G (p.Pro1131Ala) c.3382C>G (p.Pro1128Ala) c.3358C>G (p.Pro1120Ala) c.3352C>G (p.Pro1118Ala) c.3325C>G (p.Pro1109Ala) c.3319C>G (p.Pro1107Ala) c.3313C>G (p.Pro1105Ala) c.3274C>G (p.Pro1092Ala) c.3262C>G (p.Pro1088Ala) c.3205C>G (p.Pro1069Ala) c.3181C>G (p.Pro1061Ala) c.3175C>G (p.Pro1059Ala) c.3157C>G (p.Pro1053Ala) c.3103C>G (p.Pro1035Ala) c.3118-193C>G (n.3118-193C>G) c.2410C>G (p.Pro804Ala) c.2323C>G (p.Pro775Ala) n.3599C>G | dbSNP |
17 | g.39727496C>T | CA399312663 | ERBB2 | c.3361C>T (p.Pro1121Ser) c.3271C>T (p.Pro1091Ser) c.2533C>T (p.Pro845Ser) c.3316C>T (p.Pro1106Ser) c.*3151C>T (n.*3151C>T) c.3160-193C>T (n.3160-193C>T) n.3685C>T c.3499C>T (p.Pro1167Ser) c.3454C>T (p.Pro1152Ser) c.3409C>T (p.Pro1137Ser) c.3478C>T (p.Pro1160Ser) c.3463C>T (p.Pro1155Ser) c.3442C>T (p.Pro1148Ser) c.3436C>T (p.Pro1146Ser) c.3391C>T (p.Pro1131Ser) c.3382C>T (p.Pro1128Ser) c.3358C>T (p.Pro1120Ser) c.3352C>T (p.Pro1118Ser) c.3325C>T (p.Pro1109Ser) c.3319C>T (p.Pro1107Ser) c.3313C>T (p.Pro1105Ser) c.3274C>T (p.Pro1092Ser) c.3262C>T (p.Pro1088Ser) c.3205C>T (p.Pro1069Ser) c.3181C>T (p.Pro1061Ser) c.3175C>T (p.Pro1059Ser) c.3157C>T (p.Pro1053Ser) c.3103C>T (p.Pro1035Ser) c.3118-193C>T (n.3118-193C>T) c.2410C>T (p.Pro804Ser) c.2323C>T (p.Pro775Ser) n.3599C>T | dbSNP gnomAD v4 |
17 | g.39727497C>A | CA399312667 | ERBB2 | c.3362C>A (p.Pro1121His) c.3272C>A (p.Pro1091His) c.2534C>A (p.Pro845His) c.3317C>A (p.Pro1106His) c.*3152C>A (n.*3152C>A) c.3160-192C>A (n.3160-192C>A) n.3686C>A c.3500C>A (p.Pro1167His) c.3455C>A (p.Pro1152His) c.3410C>A (p.Pro1137His) c.3479C>A (p.Pro1160His) c.3464C>A (p.Pro1155His) c.3443C>A (p.Pro1148His) c.3437C>A (p.Pro1146His) c.3392C>A (p.Pro1131His) c.3383C>A (p.Pro1128His) c.3359C>A (p.Pro1120His) c.3353C>A (p.Pro1118His) c.3326C>A (p.Pro1109His) c.3320C>A (p.Pro1107His) c.3314C>A (p.Pro1105His) c.3275C>A (p.Pro1092His) c.3263C>A (p.Pro1088His) c.3206C>A (p.Pro1069His) c.3182C>A (p.Pro1061His) c.3176C>A (p.Pro1059His) c.3158C>A (p.Pro1053His) c.3104C>A (p.Pro1035His) c.3118-192C>A (n.3118-192C>A) c.2411C>A (p.Pro804His) c.2324C>A (p.Pro775His) n.3600C>A | dbSNP |
17 | g.39727497C= | CA2259228846 | ERBB2 | c.3362C= (p.Pro1121=) c.3272C= (p.Pro1091=) c.2534C= (p.Pro845=) c.3317C= (p.Pro1106=) c.*3152C= (n.*3152C=) c.3160-192C= (n.3160-192C=) n.3686C= c.3500C= (p.Pro1167=) c.3455C= (p.Pro1152=) c.3410C= (p.Pro1137=) c.3479C= (p.Pro1160=) c.3464C= (p.Pro1155=) c.3443C= (p.Pro1148=) c.3437C= (p.Pro1146=) c.3392C= (p.Pro1131=) c.3383C= (p.Pro1128=) c.3359C= (p.Pro1120=) c.3353C= (p.Pro1118=) c.3326C= (p.Pro1109=) c.3320C= (p.Pro1107=) c.3314C= (p.Pro1105=) c.3275C= (p.Pro1092=) c.3263C= (p.Pro1088=) c.3206C= (p.Pro1069=) c.3182C= (p.Pro1061=) c.3176C= (p.Pro1059=) c.3158C= (p.Pro1053=) c.3104C= (p.Pro1035=) c.3118-192C= (n.3118-192C=) c.2411C= (p.Pro804=) c.2324C= (p.Pro775=) n.3600C= | |
17 | g.39727497C>G | CA399312668 | ERBB2 | c.3362C>G (p.Pro1121Arg) c.3272C>G (p.Pro1091Arg) c.2534C>G (p.Pro845Arg) c.3317C>G (p.Pro1106Arg) c.*3152C>G (n.*3152C>G) c.3160-192C>G (n.3160-192C>G) n.3686C>G c.3500C>G (p.Pro1167Arg) c.3455C>G (p.Pro1152Arg) c.3410C>G (p.Pro1137Arg) c.3479C>G (p.Pro1160Arg) c.3464C>G (p.Pro1155Arg) c.3443C>G (p.Pro1148Arg) c.3437C>G (p.Pro1146Arg) c.3392C>G (p.Pro1131Arg) c.3383C>G (p.Pro1128Arg) c.3359C>G (p.Pro1120Arg) c.3353C>G (p.Pro1118Arg) c.3326C>G (p.Pro1109Arg) c.3320C>G (p.Pro1107Arg) c.3314C>G (p.Pro1105Arg) c.3275C>G (p.Pro1092Arg) c.3263C>G (p.Pro1088Arg) c.3206C>G (p.Pro1069Arg) c.3182C>G (p.Pro1061Arg) c.3176C>G (p.Pro1059Arg) c.3158C>G (p.Pro1053Arg) c.3104C>G (p.Pro1035Arg) c.3118-192C>G (n.3118-192C>G) c.2411C>G (p.Pro804Arg) c.2324C>G (p.Pro775Arg) n.3600C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39727497C>T | CA399312670 | ERBB2 | c.3362C>T (p.Pro1121Leu) c.3272C>T (p.Pro1091Leu) c.2534C>T (p.Pro845Leu) c.3317C>T (p.Pro1106Leu) c.*3152C>T (n.*3152C>T) c.3160-192C>T (n.3160-192C>T) n.3686C>T c.3500C>T (p.Pro1167Leu) c.3455C>T (p.Pro1152Leu) c.3410C>T (p.Pro1137Leu) c.3479C>T (p.Pro1160Leu) c.3464C>T (p.Pro1155Leu) c.3443C>T (p.Pro1148Leu) c.3437C>T (p.Pro1146Leu) c.3392C>T (p.Pro1131Leu) c.3383C>T (p.Pro1128Leu) c.3359C>T (p.Pro1120Leu) c.3353C>T (p.Pro1118Leu) c.3326C>T (p.Pro1109Leu) c.3320C>T (p.Pro1107Leu) c.3314C>T (p.Pro1105Leu) c.3275C>T (p.Pro1092Leu) c.3263C>T (p.Pro1088Leu) c.3206C>T (p.Pro1069Leu) c.3182C>T (p.Pro1061Leu) c.3176C>T (p.Pro1059Leu) c.3158C>T (p.Pro1053Leu) c.3104C>T (p.Pro1035Leu) c.3118-192C>T (n.3118-192C>T) c.2411C>T (p.Pro804Leu) c.2324C>T (p.Pro775Leu) n.3600C>T | dbSNP |
17 | g.39727498C>A | CA499890271 | ERBB2 | c.3363C>A (p.Pro1121=) c.3273C>A (p.Pro1091=) c.2535C>A (p.Pro845=) c.3318C>A (p.Pro1106=) c.*3153C>A (n.*3153C>A) c.3160-191C>A (n.3160-191C>A) n.3687C>A c.3501C>A (p.Pro1167=) c.3456C>A (p.Pro1152=) c.3411C>A (p.Pro1137=) c.3480C>A (p.Pro1160=) c.3465C>A (p.Pro1155=) c.3444C>A (p.Pro1148=) c.3438C>A (p.Pro1146=) c.3393C>A (p.Pro1131=) c.3384C>A (p.Pro1128=) c.3360C>A (p.Pro1120=) c.3354C>A (p.Pro1118=) c.3327C>A (p.Pro1109=) c.3321C>A (p.Pro1107=) c.3315C>A (p.Pro1105=) c.3276C>A (p.Pro1092=) c.3264C>A (p.Pro1088=) c.3207C>A (p.Pro1069=) c.3183C>A (p.Pro1061=) c.3177C>A (p.Pro1059=) c.3159C>A (p.Pro1053=) c.3105C>A (p.Pro1035=) c.3118-191C>A (n.3118-191C>A) c.2412C>A (p.Pro804=) c.2325C>A (p.Pro775=) n.3601C>A | |
17 | g.39727498C>G | CA499890269 | ERBB2 | c.3363C>G (p.Pro1121=) c.3273C>G (p.Pro1091=) c.2535C>G (p.Pro845=) c.3318C>G (p.Pro1106=) c.*3153C>G (n.*3153C>G) c.3160-191C>G (n.3160-191C>G) n.3687C>G c.3501C>G (p.Pro1167=) c.3456C>G (p.Pro1152=) c.3411C>G (p.Pro1137=) c.3480C>G (p.Pro1160=) c.3465C>G (p.Pro1155=) c.3444C>G (p.Pro1148=) c.3438C>G (p.Pro1146=) c.3393C>G (p.Pro1131=) c.3384C>G (p.Pro1128=) c.3360C>G (p.Pro1120=) c.3354C>G (p.Pro1118=) c.3327C>G (p.Pro1109=) c.3321C>G (p.Pro1107=) c.3315C>G (p.Pro1105=) c.3276C>G (p.Pro1092=) c.3264C>G (p.Pro1088=) c.3207C>G (p.Pro1069=) c.3183C>G (p.Pro1061=) c.3177C>G (p.Pro1059=) c.3159C>G (p.Pro1053=) c.3105C>G (p.Pro1035=) c.3118-191C>G (n.3118-191C>G) c.2412C>G (p.Pro804=) c.2325C>G (p.Pro775=) n.3601C>G | |
17 | g.39727498C>T | CA499890270 | ERBB2 | c.3363C>T (p.Pro1121=) c.3273C>T (p.Pro1091=) c.2535C>T (p.Pro845=) c.3318C>T (p.Pro1106=) c.*3153C>T (n.*3153C>T) c.3160-191C>T (n.3160-191C>T) n.3687C>T c.3501C>T (p.Pro1167=) c.3456C>T (p.Pro1152=) c.3411C>T (p.Pro1137=) c.3480C>T (p.Pro1160=) c.3465C>T (p.Pro1155=) c.3444C>T (p.Pro1148=) c.3438C>T (p.Pro1146=) c.3393C>T (p.Pro1131=) c.3384C>T (p.Pro1128=) c.3360C>T (p.Pro1120=) c.3354C>T (p.Pro1118=) c.3327C>T (p.Pro1109=) c.3321C>T (p.Pro1107=) c.3315C>T (p.Pro1105=) c.3276C>T (p.Pro1092=) c.3264C>T (p.Pro1088=) c.3207C>T (p.Pro1069=) c.3183C>T (p.Pro1061=) c.3177C>T (p.Pro1059=) c.3159C>T (p.Pro1053=) c.3105C>T (p.Pro1035=) c.3118-191C>T (n.3118-191C>T) c.2412C>T (p.Pro804=) c.2325C>T (p.Pro775=) n.3601C>T | |
17 | g.39727499T>A | CA399312673 | ERBB2 | c.3364T>A (p.Ser1122Thr) c.3274T>A (p.Ser1092Thr) c.2536T>A (p.Ser846Thr) c.3319T>A (p.Ser1107Thr) c.*3154T>A (n.*3154T>A) c.3160-190T>A (n.3160-190T>A) n.3688T>A c.3502T>A (p.Ser1168Thr) c.3457T>A (p.Ser1153Thr) c.3412T>A (p.Ser1138Thr) c.3481T>A (p.Ser1161Thr) c.3466T>A (p.Ser1156Thr) c.3445T>A (p.Ser1149Thr) c.3439T>A (p.Ser1147Thr) c.3394T>A (p.Ser1132Thr) c.3385T>A (p.Ser1129Thr) c.3361T>A (p.Ser1121Thr) c.3355T>A (p.Ser1119Thr) c.3328T>A (p.Ser1110Thr) c.3322T>A (p.Ser1108Thr) c.3316T>A (p.Ser1106Thr) c.3277T>A (p.Ser1093Thr) c.3265T>A (p.Ser1089Thr) c.3208T>A (p.Ser1070Thr) c.3184T>A (p.Ser1062Thr) c.3178T>A (p.Ser1060Thr) c.3160T>A (p.Ser1054Thr) c.3106T>A (p.Ser1036Thr) c.3118-190T>A (n.3118-190T>A) c.2413T>A (p.Ser805Thr) c.2326T>A (p.Ser776Thr) n.3602T>A | dbSNP |
17 | g.39727499T>C | CA399312674 | ERBB2 | c.3364T>C (p.Ser1122Pro) c.3274T>C (p.Ser1092Pro) c.2536T>C (p.Ser846Pro) c.3319T>C (p.Ser1107Pro) c.*3154T>C (n.*3154T>C) c.3160-190T>C (n.3160-190T>C) n.3688T>C c.3502T>C (p.Ser1168Pro) c.3457T>C (p.Ser1153Pro) c.3412T>C (p.Ser1138Pro) c.3481T>C (p.Ser1161Pro) c.3466T>C (p.Ser1156Pro) c.3445T>C (p.Ser1149Pro) c.3439T>C (p.Ser1147Pro) c.3394T>C (p.Ser1132Pro) c.3385T>C (p.Ser1129Pro) c.3361T>C (p.Ser1121Pro) c.3355T>C (p.Ser1119Pro) c.3328T>C (p.Ser1110Pro) c.3322T>C (p.Ser1108Pro) c.3316T>C (p.Ser1106Pro) c.3277T>C (p.Ser1093Pro) c.3265T>C (p.Ser1089Pro) c.3208T>C (p.Ser1070Pro) c.3184T>C (p.Ser1062Pro) c.3178T>C (p.Ser1060Pro) c.3160T>C (p.Ser1054Pro) c.3106T>C (p.Ser1036Pro) c.3118-190T>C (n.3118-190T>C) c.2413T>C (p.Ser805Pro) c.2326T>C (p.Ser776Pro) n.3602T>C | |
17 | g.39727499T>G | CA399312676 | ERBB2 | c.3364T>G (p.Ser1122Ala) c.3274T>G (p.Ser1092Ala) c.2536T>G (p.Ser846Ala) c.3319T>G (p.Ser1107Ala) c.*3154T>G (n.*3154T>G) c.3160-190T>G (n.3160-190T>G) n.3688T>G c.3502T>G (p.Ser1168Ala) c.3457T>G (p.Ser1153Ala) c.3412T>G (p.Ser1138Ala) c.3481T>G (p.Ser1161Ala) c.3466T>G (p.Ser1156Ala) c.3445T>G (p.Ser1149Ala) c.3439T>G (p.Ser1147Ala) c.3394T>G (p.Ser1132Ala) c.3385T>G (p.Ser1129Ala) c.3361T>G (p.Ser1121Ala) c.3355T>G (p.Ser1119Ala) c.3328T>G (p.Ser1110Ala) c.3322T>G (p.Ser1108Ala) c.3316T>G (p.Ser1106Ala) c.3277T>G (p.Ser1093Ala) c.3265T>G (p.Ser1089Ala) c.3208T>G (p.Ser1070Ala) c.3184T>G (p.Ser1062Ala) c.3178T>G (p.Ser1060Ala) c.3160T>G (p.Ser1054Ala) c.3106T>G (p.Ser1036Ala) c.3118-190T>G (n.3118-190T>G) c.2413T>G (p.Ser805Ala) c.2326T>G (p.Ser776Ala) n.3602T>G | |
17 | g.39727500C>A | CA399312679 | ERBB2 | c.3365C>A (p.Ser1122Tyr) c.3275C>A (p.Ser1092Tyr) c.2537C>A (p.Ser846Tyr) c.3320C>A (p.Ser1107Tyr) c.*3155C>A (n.*3155C>A) c.3160-189C>A (n.3160-189C>A) n.3689C>A c.3503C>A (p.Ser1168Tyr) c.3458C>A (p.Ser1153Tyr) c.3413C>A (p.Ser1138Tyr) c.3482C>A (p.Ser1161Tyr) c.3467C>A (p.Ser1156Tyr) c.3446C>A (p.Ser1149Tyr) c.3440C>A (p.Ser1147Tyr) c.3395C>A (p.Ser1132Tyr) c.3386C>A (p.Ser1129Tyr) c.3362C>A (p.Ser1121Tyr) c.3356C>A (p.Ser1119Tyr) c.3329C>A (p.Ser1110Tyr) c.3323C>A (p.Ser1108Tyr) c.3317C>A (p.Ser1106Tyr) c.3278C>A (p.Ser1093Tyr) c.3266C>A (p.Ser1089Tyr) c.3209C>A (p.Ser1070Tyr) c.3185C>A (p.Ser1062Tyr) c.3179C>A (p.Ser1060Tyr) c.3161C>A (p.Ser1054Tyr) c.3107C>A (p.Ser1036Tyr) c.3118-189C>A (n.3118-189C>A) c.2414C>A (p.Ser805Tyr) c.2327C>A (p.Ser776Tyr) n.3603C>A | dbSNP |
17 | g.39727500C>G | CA399312680 | ERBB2 | c.3365C>G (p.Ser1122Cys) c.3275C>G (p.Ser1092Cys) c.2537C>G (p.Ser846Cys) c.3320C>G (p.Ser1107Cys) c.*3155C>G (n.*3155C>G) c.3160-189C>G (n.3160-189C>G) n.3689C>G c.3503C>G (p.Ser1168Cys) c.3458C>G (p.Ser1153Cys) c.3413C>G (p.Ser1138Cys) c.3482C>G (p.Ser1161Cys) c.3467C>G (p.Ser1156Cys) c.3446C>G (p.Ser1149Cys) c.3440C>G (p.Ser1147Cys) c.3395C>G (p.Ser1132Cys) c.3386C>G (p.Ser1129Cys) c.3362C>G (p.Ser1121Cys) c.3356C>G (p.Ser1119Cys) c.3329C>G (p.Ser1110Cys) c.3323C>G (p.Ser1108Cys) c.3317C>G (p.Ser1106Cys) c.3278C>G (p.Ser1093Cys) c.3266C>G (p.Ser1089Cys) c.3209C>G (p.Ser1070Cys) c.3185C>G (p.Ser1062Cys) c.3179C>G (p.Ser1060Cys) c.3161C>G (p.Ser1054Cys) c.3107C>G (p.Ser1036Cys) c.3118-189C>G (n.3118-189C>G) c.2414C>G (p.Ser805Cys) c.2327C>G (p.Ser776Cys) n.3603C>G | dbSNP |
17 | g.39727500C>T | CA399312681 | ERBB2 | c.3365C>T (p.Ser1122Phe) c.3275C>T (p.Ser1092Phe) c.2537C>T (p.Ser846Phe) c.3320C>T (p.Ser1107Phe) c.*3155C>T (n.*3155C>T) c.3160-189C>T (n.3160-189C>T) n.3689C>T c.3503C>T (p.Ser1168Phe) c.3458C>T (p.Ser1153Phe) c.3413C>T (p.Ser1138Phe) c.3482C>T (p.Ser1161Phe) c.3467C>T (p.Ser1156Phe) c.3446C>T (p.Ser1149Phe) c.3440C>T (p.Ser1147Phe) c.3395C>T (p.Ser1132Phe) c.3386C>T (p.Ser1129Phe) c.3362C>T (p.Ser1121Phe) c.3356C>T (p.Ser1119Phe) c.3329C>T (p.Ser1110Phe) c.3323C>T (p.Ser1108Phe) c.3317C>T (p.Ser1106Phe) c.3278C>T (p.Ser1093Phe) c.3266C>T (p.Ser1089Phe) c.3209C>T (p.Ser1070Phe) c.3185C>T (p.Ser1062Phe) c.3179C>T (p.Ser1060Phe) c.3161C>T (p.Ser1054Phe) c.3107C>T (p.Ser1036Phe) c.3118-189C>T (n.3118-189C>T) c.2414C>T (p.Ser805Phe) c.2327C>T (p.Ser776Phe) n.3603C>T | dbSNP |
17 | g.39727501T>A | CA499890272 | ERBB2 | c.3366T>A (p.Ser1122=) c.3276T>A (p.Ser1092=) c.2538T>A (p.Ser846=) c.3321T>A (p.Ser1107=) c.*3156T>A (n.*3156T>A) c.3160-188T>A (n.3160-188T>A) n.3690T>A c.3504T>A (p.Ser1168=) c.3459T>A (p.Ser1153=) c.3414T>A (p.Ser1138=) c.3483T>A (p.Ser1161=) c.3468T>A (p.Ser1156=) c.3447T>A (p.Ser1149=) c.3441T>A (p.Ser1147=) c.3396T>A (p.Ser1132=) c.3387T>A (p.Ser1129=) c.3363T>A (p.Ser1121=) c.3357T>A (p.Ser1119=) c.3330T>A (p.Ser1110=) c.3324T>A (p.Ser1108=) c.3318T>A (p.Ser1106=) c.3279T>A (p.Ser1093=) c.3267T>A (p.Ser1089=) c.3210T>A (p.Ser1070=) c.3186T>A (p.Ser1062=) c.3180T>A (p.Ser1060=) c.3162T>A (p.Ser1054=) c.3108T>A (p.Ser1036=) c.3118-188T>A (n.3118-188T>A) c.2415T>A (p.Ser805=) c.2328T>A (p.Ser776=) n.3604T>A | dbSNP |
17 | g.39727501T>C | CA499890273 | ERBB2 | c.3366T>C (p.Ser1122=) c.3276T>C (p.Ser1092=) c.2538T>C (p.Ser846=) c.3321T>C (p.Ser1107=) c.*3156T>C (n.*3156T>C) c.3160-188T>C (n.3160-188T>C) n.3690T>C c.3504T>C (p.Ser1168=) c.3459T>C (p.Ser1153=) c.3414T>C (p.Ser1138=) c.3483T>C (p.Ser1161=) c.3468T>C (p.Ser1156=) c.3447T>C (p.Ser1149=) c.3441T>C (p.Ser1147=) c.3396T>C (p.Ser1132=) c.3387T>C (p.Ser1129=) c.3363T>C (p.Ser1121=) c.3357T>C (p.Ser1119=) c.3330T>C (p.Ser1110=) c.3324T>C (p.Ser1108=) c.3318T>C (p.Ser1106=) c.3279T>C (p.Ser1093=) c.3267T>C (p.Ser1089=) c.3210T>C (p.Ser1070=) c.3186T>C (p.Ser1062=) c.3180T>C (p.Ser1060=) c.3162T>C (p.Ser1054=) c.3108T>C (p.Ser1036=) c.3118-188T>C (n.3118-188T>C) c.2415T>C (p.Ser805=) c.2328T>C (p.Ser776=) n.3604T>C | dbSNP |
17 | g.39727501T>G | CA499890274 | ERBB2 | c.3366T>G (p.Ser1122=) c.3276T>G (p.Ser1092=) c.2538T>G (p.Ser846=) c.3321T>G (p.Ser1107=) c.*3156T>G (n.*3156T>G) c.3160-188T>G (n.3160-188T>G) n.3690T>G c.3504T>G (p.Ser1168=) c.3459T>G (p.Ser1153=) c.3414T>G (p.Ser1138=) c.3483T>G (p.Ser1161=) c.3468T>G (p.Ser1156=) c.3447T>G (p.Ser1149=) c.3441T>G (p.Ser1147=) c.3396T>G (p.Ser1132=) c.3387T>G (p.Ser1129=) c.3363T>G (p.Ser1121=) c.3357T>G (p.Ser1119=) c.3330T>G (p.Ser1110=) c.3324T>G (p.Ser1108=) c.3318T>G (p.Ser1106=) c.3279T>G (p.Ser1093=) c.3267T>G (p.Ser1089=) c.3210T>G (p.Ser1070=) c.3186T>G (p.Ser1062=) c.3180T>G (p.Ser1060=) c.3162T>G (p.Ser1054=) c.3108T>G (p.Ser1036=) c.3118-188T>G (n.3118-188T>G) c.2415T>G (p.Ser805=) c.2328T>G (p.Ser776=) n.3604T>G | |
17 | g.39727501T= | CA2259228848 | ERBB2 | c.3366T= (p.Ser1122=) c.3276T= (p.Ser1092=) c.2538T= (p.Ser846=) c.3321T= (p.Ser1107=) c.*3156T= (n.*3156T=) c.3160-188T= (n.3160-188T=) n.3690T= c.3504T= (p.Ser1168=) c.3459T= (p.Ser1153=) c.3414T= (p.Ser1138=) c.3483T= (p.Ser1161=) c.3468T= (p.Ser1156=) c.3447T= (p.Ser1149=) c.3441T= (p.Ser1147=) c.3396T= (p.Ser1132=) c.3387T= (p.Ser1129=) c.3363T= (p.Ser1121=) c.3357T= (p.Ser1119=) c.3330T= (p.Ser1110=) c.3324T= (p.Ser1108=) c.3318T= (p.Ser1106=) c.3279T= (p.Ser1093=) c.3267T= (p.Ser1089=) c.3210T= (p.Ser1070=) c.3186T= (p.Ser1062=) c.3180T= (p.Ser1060=) c.3162T= (p.Ser1054=) c.3108T= (p.Ser1036=) c.3118-188T= (n.3118-188T=) c.2415T= (p.Ser805=) c.2328T= (p.Ser776=) n.3604T= | |
17 | g.39727502G>A | CA8534528 | ERBB2 | c.3367G>A (p.Glu1123Lys) c.3277G>A (p.Glu1093Lys) c.2539G>A (p.Glu847Lys) c.3322G>A (p.Glu1108Lys) c.*3157G>A (n.*3157G>A) c.3160-187G>A (n.3160-187G>A) n.3691G>A c.3505G>A (p.Glu1169Lys) c.3460G>A (p.Glu1154Lys) c.3415G>A (p.Glu1139Lys) c.3484G>A (p.Glu1162Lys) c.3469G>A (p.Glu1157Lys) c.3448G>A (p.Glu1150Lys) c.3442G>A (p.Glu1148Lys) c.3397G>A (p.Glu1133Lys) c.3388G>A (p.Glu1130Lys) c.3364G>A (p.Glu1122Lys) c.3358G>A (p.Glu1120Lys) c.3331G>A (p.Glu1111Lys) c.3325G>A (p.Glu1109Lys) c.3319G>A (p.Glu1107Lys) c.3280G>A (p.Glu1094Lys) c.3268G>A (p.Glu1090Lys) c.3211G>A (p.Glu1071Lys) c.3187G>A (p.Glu1063Lys) c.3181G>A (p.Glu1061Lys) c.3163G>A (p.Glu1055Lys) c.3109G>A (p.Glu1037Lys) c.3118-187G>A (n.3118-187G>A) c.2416G>A (p.Glu806Lys) c.2329G>A (p.Glu777Lys) n.3605G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727502G>C | CA8534527 | ERBB2 | c.3367G>C (p.Glu1123Gln) c.3277G>C (p.Glu1093Gln) c.2539G>C (p.Glu847Gln) c.3322G>C (p.Glu1108Gln) c.*3157G>C (n.*3157G>C) c.3160-187G>C (n.3160-187G>C) n.3691G>C c.3505G>C (p.Glu1169Gln) c.3460G>C (p.Glu1154Gln) c.3415G>C (p.Glu1139Gln) c.3484G>C (p.Glu1162Gln) c.3469G>C (p.Glu1157Gln) c.3448G>C (p.Glu1150Gln) c.3442G>C (p.Glu1148Gln) c.3397G>C (p.Glu1133Gln) c.3388G>C (p.Glu1130Gln) c.3364G>C (p.Glu1122Gln) c.3358G>C (p.Glu1120Gln) c.3331G>C (p.Glu1111Gln) c.3325G>C (p.Glu1109Gln) c.3319G>C (p.Glu1107Gln) c.3280G>C (p.Glu1094Gln) c.3268G>C (p.Glu1090Gln) c.3211G>C (p.Glu1071Gln) c.3187G>C (p.Glu1063Gln) c.3181G>C (p.Glu1061Gln) c.3163G>C (p.Glu1055Gln) c.3109G>C (p.Glu1037Gln) c.3118-187G>C (n.3118-187G>C) c.2416G>C (p.Glu806Gln) c.2329G>C (p.Glu777Gln) n.3605G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727502G= | CA2259229137 | ERBB2 | c.3367G= (p.Glu1123=) c.3277G= (p.Glu1093=) c.2539G= (p.Glu847=) c.3322G= (p.Glu1108=) c.*3157G= (n.*3157G=) c.3160-187G= (n.3160-187G=) n.3691G= c.3505G= (p.Glu1169=) c.3460G= (p.Glu1154=) c.3415G= (p.Glu1139=) c.3484G= (p.Glu1162=) c.3469G= (p.Glu1157=) c.3448G= (p.Glu1150=) c.3442G= (p.Glu1148=) c.3397G= (p.Glu1133=) c.3388G= (p.Glu1130=) c.3364G= (p.Glu1122=) c.3358G= (p.Glu1120=) c.3331G= (p.Glu1111=) c.3325G= (p.Glu1109=) c.3319G= (p.Glu1107=) c.3280G= (p.Glu1094=) c.3268G= (p.Glu1090=) c.3211G= (p.Glu1071=) c.3187G= (p.Glu1063=) c.3181G= (p.Glu1061=) c.3163G= (p.Glu1055=) c.3109G= (p.Glu1037=) c.3118-187G= (n.3118-187G=) c.2416G= (p.Glu806=) c.2329G= (p.Glu777=) n.3605G= | |
17 | g.39727502G>T | CA399312684 | ERBB2 | c.3367G>T (p.Glu1123Ter) c.3277G>T (p.Glu1093Ter) c.2539G>T (p.Glu847Ter) c.3322G>T (p.Glu1108Ter) c.*3157G>T (n.*3157G>T) c.3160-187G>T (n.3160-187G>T) n.3691G>T c.3505G>T (p.Glu1169Ter) c.3460G>T (p.Glu1154Ter) c.3415G>T (p.Glu1139Ter) c.3484G>T (p.Glu1162Ter) c.3469G>T (p.Glu1157Ter) c.3448G>T (p.Glu1150Ter) c.3442G>T (p.Glu1148Ter) c.3397G>T (p.Glu1133Ter) c.3388G>T (p.Glu1130Ter) c.3364G>T (p.Glu1122Ter) c.3358G>T (p.Glu1120Ter) c.3331G>T (p.Glu1111Ter) c.3325G>T (p.Glu1109Ter) c.3319G>T (p.Glu1107Ter) c.3280G>T (p.Glu1094Ter) c.3268G>T (p.Glu1090Ter) c.3211G>T (p.Glu1071Ter) c.3187G>T (p.Glu1063Ter) c.3181G>T (p.Glu1061Ter) c.3163G>T (p.Glu1055Ter) c.3109G>T (p.Glu1037Ter) c.3118-187G>T (n.3118-187G>T) c.2416G>T (p.Glu806Ter) c.2329G>T (p.Glu777Ter) n.3605G>T | gnomAD v4 |
17 | g.39727503A>C | CA399312690 | ERBB2 | c.3368A>C (p.Glu1123Ala) c.3278A>C (p.Glu1093Ala) c.2540A>C (p.Glu847Ala) c.3323A>C (p.Glu1108Ala) c.*3158A>C (n.*3158A>C) c.3160-186A>C (n.3160-186A>C) n.3692A>C c.3506A>C (p.Glu1169Ala) c.3461A>C (p.Glu1154Ala) c.3416A>C (p.Glu1139Ala) c.3485A>C (p.Glu1162Ala) c.3470A>C (p.Glu1157Ala) c.3449A>C (p.Glu1150Ala) c.3443A>C (p.Glu1148Ala) c.3398A>C (p.Glu1133Ala) c.3389A>C (p.Glu1130Ala) c.3365A>C (p.Glu1122Ala) c.3359A>C (p.Glu1120Ala) c.3332A>C (p.Glu1111Ala) c.3326A>C (p.Glu1109Ala) c.3320A>C (p.Glu1107Ala) c.3281A>C (p.Glu1094Ala) c.3269A>C (p.Glu1090Ala) c.3212A>C (p.Glu1071Ala) c.3188A>C (p.Glu1063Ala) c.3182A>C (p.Glu1061Ala) c.3164A>C (p.Glu1055Ala) c.3110A>C (p.Glu1037Ala) c.3118-186A>C (n.3118-186A>C) c.2417A>C (p.Glu806Ala) c.2330A>C (p.Glu777Ala) n.3606A>C | |
17 | g.39727503A>G | CA399312686 | ERBB2 | c.3368A>G (p.Glu1123Gly) c.3278A>G (p.Glu1093Gly) c.2540A>G (p.Glu847Gly) c.3323A>G (p.Glu1108Gly) c.*3158A>G (n.*3158A>G) c.3160-186A>G (n.3160-186A>G) n.3692A>G c.3506A>G (p.Glu1169Gly) c.3461A>G (p.Glu1154Gly) c.3416A>G (p.Glu1139Gly) c.3485A>G (p.Glu1162Gly) c.3470A>G (p.Glu1157Gly) c.3449A>G (p.Glu1150Gly) c.3443A>G (p.Glu1148Gly) c.3398A>G (p.Glu1133Gly) c.3389A>G (p.Glu1130Gly) c.3365A>G (p.Glu1122Gly) c.3359A>G (p.Glu1120Gly) c.3332A>G (p.Glu1111Gly) c.3326A>G (p.Glu1109Gly) c.3320A>G (p.Glu1107Gly) c.3281A>G (p.Glu1094Gly) c.3269A>G (p.Glu1090Gly) c.3212A>G (p.Glu1071Gly) c.3188A>G (p.Glu1063Gly) c.3182A>G (p.Glu1061Gly) c.3164A>G (p.Glu1055Gly) c.3110A>G (p.Glu1037Gly) c.3118-186A>G (n.3118-186A>G) c.2417A>G (p.Glu806Gly) c.2330A>G (p.Glu777Gly) n.3606A>G | dbSNP |
17 | g.39727503A>T | CA399312688 | ERBB2 | c.3368A>T (p.Glu1123Val) c.3278A>T (p.Glu1093Val) c.2540A>T (p.Glu847Val) c.3323A>T (p.Glu1108Val) c.*3158A>T (n.*3158A>T) c.3160-186A>T (n.3160-186A>T) n.3692A>T c.3506A>T (p.Glu1169Val) c.3461A>T (p.Glu1154Val) c.3416A>T (p.Glu1139Val) c.3485A>T (p.Glu1162Val) c.3470A>T (p.Glu1157Val) c.3449A>T (p.Glu1150Val) c.3443A>T (p.Glu1148Val) c.3398A>T (p.Glu1133Val) c.3389A>T (p.Glu1130Val) c.3365A>T (p.Glu1122Val) c.3359A>T (p.Glu1120Val) c.3332A>T (p.Glu1111Val) c.3326A>T (p.Glu1109Val) c.3320A>T (p.Glu1107Val) c.3281A>T (p.Glu1094Val) c.3269A>T (p.Glu1090Val) c.3212A>T (p.Glu1071Val) c.3188A>T (p.Glu1063Val) c.3182A>T (p.Glu1061Val) c.3164A>T (p.Glu1055Val) c.3110A>T (p.Glu1037Val) c.3118-186A>T (n.3118-186A>T) c.2417A>T (p.Glu806Val) c.2330A>T (p.Glu777Val) n.3606A>T | dbSNP |
17 | g.39727504G>A | CA499890275 | ERBB2 | c.3369G>A (p.Glu1123=) c.3279G>A (p.Glu1093=) c.2541G>A (p.Glu847=) c.3324G>A (p.Glu1108=) c.*3159G>A (n.*3159G>A) c.3160-185G>A (n.3160-185G>A) n.3693G>A c.3507G>A (p.Glu1169=) c.3462G>A (p.Glu1154=) c.3417G>A (p.Glu1139=) c.3486G>A (p.Glu1162=) c.3471G>A (p.Glu1157=) c.3450G>A (p.Glu1150=) c.3444G>A (p.Glu1148=) c.3399G>A (p.Glu1133=) c.3390G>A (p.Glu1130=) c.3366G>A (p.Glu1122=) c.3360G>A (p.Glu1120=) c.3333G>A (p.Glu1111=) c.3327G>A (p.Glu1109=) c.3321G>A (p.Glu1107=) c.3282G>A (p.Glu1094=) c.3270G>A (p.Glu1090=) c.3213G>A (p.Glu1071=) c.3189G>A (p.Glu1063=) c.3183G>A (p.Glu1061=) c.3165G>A (p.Glu1055=) c.3111G>A (p.Glu1037=) c.3118-185G>A (n.3118-185G>A) c.2418G>A (p.Glu806=) c.2331G>A (p.Glu777=) n.3607G>A | dbSNP |
17 | g.39727504G>C | CA399312692 | ERBB2 | c.3369G>C (p.Glu1123Asp) c.3279G>C (p.Glu1093Asp) c.2541G>C (p.Glu847Asp) c.3324G>C (p.Glu1108Asp) c.*3159G>C (n.*3159G>C) c.3160-185G>C (n.3160-185G>C) n.3693G>C c.3507G>C (p.Glu1169Asp) c.3462G>C (p.Glu1154Asp) c.3417G>C (p.Glu1139Asp) c.3486G>C (p.Glu1162Asp) c.3471G>C (p.Glu1157Asp) c.3450G>C (p.Glu1150Asp) c.3444G>C (p.Glu1148Asp) c.3399G>C (p.Glu1133Asp) c.3390G>C (p.Glu1130Asp) c.3366G>C (p.Glu1122Asp) c.3360G>C (p.Glu1120Asp) c.3333G>C (p.Glu1111Asp) c.3327G>C (p.Glu1109Asp) c.3321G>C (p.Glu1107Asp) c.3282G>C (p.Glu1094Asp) c.3270G>C (p.Glu1090Asp) c.3213G>C (p.Glu1071Asp) c.3189G>C (p.Glu1063Asp) c.3183G>C (p.Glu1061Asp) c.3165G>C (p.Glu1055Asp) c.3111G>C (p.Glu1037Asp) c.3118-185G>C (n.3118-185G>C) c.2418G>C (p.Glu806Asp) c.2331G>C (p.Glu777Asp) n.3607G>C | dbSNP |
17 | g.39727504G>T | CA399312693 | ERBB2 | c.3369G>T (p.Glu1123Asp) c.3279G>T (p.Glu1093Asp) c.2541G>T (p.Glu847Asp) c.3324G>T (p.Glu1108Asp) c.*3159G>T (n.*3159G>T) c.3160-185G>T (n.3160-185G>T) n.3693G>T c.3507G>T (p.Glu1169Asp) c.3462G>T (p.Glu1154Asp) c.3417G>T (p.Glu1139Asp) c.3486G>T (p.Glu1162Asp) c.3471G>T (p.Glu1157Asp) c.3450G>T (p.Glu1150Asp) c.3444G>T (p.Glu1148Asp) c.3399G>T (p.Glu1133Asp) c.3390G>T (p.Glu1130Asp) c.3366G>T (p.Glu1122Asp) c.3360G>T (p.Glu1120Asp) c.3333G>T (p.Glu1111Asp) c.3327G>T (p.Glu1109Asp) c.3321G>T (p.Glu1107Asp) c.3282G>T (p.Glu1094Asp) c.3270G>T (p.Glu1090Asp) c.3213G>T (p.Glu1071Asp) c.3189G>T (p.Glu1063Asp) c.3183G>T (p.Glu1061Asp) c.3165G>T (p.Glu1055Asp) c.3111G>T (p.Glu1037Asp) c.3118-185G>T (n.3118-185G>T) c.2418G>T (p.Glu806Asp) c.2331G>T (p.Glu777Asp) n.3607G>T | dbSNP |
17 | g.39727505A>C | CA399312695 | ERBB2 | c.3370A>C (p.Thr1124Pro) c.3280A>C (p.Thr1094Pro) c.2542A>C (p.Thr848Pro) c.3325A>C (p.Thr1109Pro) c.*3160A>C (n.*3160A>C) c.3160-184A>C (n.3160-184A>C) n.3694A>C c.3508A>C (p.Thr1170Pro) c.3463A>C (p.Thr1155Pro) c.3418A>C (p.Thr1140Pro) c.3487A>C (p.Thr1163Pro) c.3472A>C (p.Thr1158Pro) c.3451A>C (p.Thr1151Pro) c.3445A>C (p.Thr1149Pro) c.3400A>C (p.Thr1134Pro) c.3391A>C (p.Thr1131Pro) c.3367A>C (p.Thr1123Pro) c.3361A>C (p.Thr1121Pro) c.3334A>C (p.Thr1112Pro) c.3328A>C (p.Thr1110Pro) c.3322A>C (p.Thr1108Pro) c.3283A>C (p.Thr1095Pro) c.3271A>C (p.Thr1091Pro) c.3214A>C (p.Thr1072Pro) c.3190A>C (p.Thr1064Pro) c.3184A>C (p.Thr1062Pro) c.3166A>C (p.Thr1056Pro) c.3112A>C (p.Thr1038Pro) c.3118-184A>C (n.3118-184A>C) c.2419A>C (p.Thr807Pro) c.2332A>C (p.Thr778Pro) n.3608A>C | dbSNP |
17 | g.39727505A>G | CA399312697 | ERBB2 | c.3370A>G (p.Thr1124Ala) c.3280A>G (p.Thr1094Ala) c.2542A>G (p.Thr848Ala) c.3325A>G (p.Thr1109Ala) c.*3160A>G (n.*3160A>G) c.3160-184A>G (n.3160-184A>G) n.3694A>G c.3508A>G (p.Thr1170Ala) c.3463A>G (p.Thr1155Ala) c.3418A>G (p.Thr1140Ala) c.3487A>G (p.Thr1163Ala) c.3472A>G (p.Thr1158Ala) c.3451A>G (p.Thr1151Ala) c.3445A>G (p.Thr1149Ala) c.3400A>G (p.Thr1134Ala) c.3391A>G (p.Thr1131Ala) c.3367A>G (p.Thr1123Ala) c.3361A>G (p.Thr1121Ala) c.3334A>G (p.Thr1112Ala) c.3328A>G (p.Thr1110Ala) c.3322A>G (p.Thr1108Ala) c.3283A>G (p.Thr1095Ala) c.3271A>G (p.Thr1091Ala) c.3214A>G (p.Thr1072Ala) c.3190A>G (p.Thr1064Ala) c.3184A>G (p.Thr1062Ala) c.3166A>G (p.Thr1056Ala) c.3112A>G (p.Thr1038Ala) c.3118-184A>G (n.3118-184A>G) c.2419A>G (p.Thr807Ala) c.2332A>G (p.Thr778Ala) n.3608A>G | dbSNP |
17 | g.39727505A>T | CA399312699 | ERBB2 | c.3370A>T (p.Thr1124Ser) c.3280A>T (p.Thr1094Ser) c.2542A>T (p.Thr848Ser) c.3325A>T (p.Thr1109Ser) c.*3160A>T (n.*3160A>T) c.3160-184A>T (n.3160-184A>T) n.3694A>T c.3508A>T (p.Thr1170Ser) c.3463A>T (p.Thr1155Ser) c.3418A>T (p.Thr1140Ser) c.3487A>T (p.Thr1163Ser) c.3472A>T (p.Thr1158Ser) c.3451A>T (p.Thr1151Ser) c.3445A>T (p.Thr1149Ser) c.3400A>T (p.Thr1134Ser) c.3391A>T (p.Thr1131Ser) c.3367A>T (p.Thr1123Ser) c.3361A>T (p.Thr1121Ser) c.3334A>T (p.Thr1112Ser) c.3328A>T (p.Thr1110Ser) c.3322A>T (p.Thr1108Ser) c.3283A>T (p.Thr1095Ser) c.3271A>T (p.Thr1091Ser) c.3214A>T (p.Thr1072Ser) c.3190A>T (p.Thr1064Ser) c.3184A>T (p.Thr1062Ser) c.3166A>T (p.Thr1056Ser) c.3112A>T (p.Thr1038Ser) c.3118-184A>T (n.3118-184A>T) c.2419A>T (p.Thr807Ser) c.2332A>T (p.Thr778Ser) n.3608A>T | dbSNP |
17 | g.39727506C>A | CA399312701 | ERBB2 | c.3371C>A (p.Thr1124Asn) c.3281C>A (p.Thr1094Asn) c.2543C>A (p.Thr848Asn) c.3326C>A (p.Thr1109Asn) c.*3161C>A (n.*3161C>A) c.3160-183C>A (n.3160-183C>A) n.3695C>A c.3509C>A (p.Thr1170Asn) c.3464C>A (p.Thr1155Asn) c.3419C>A (p.Thr1140Asn) c.3488C>A (p.Thr1163Asn) c.3473C>A (p.Thr1158Asn) c.3452C>A (p.Thr1151Asn) c.3446C>A (p.Thr1149Asn) c.3401C>A (p.Thr1134Asn) c.3392C>A (p.Thr1131Asn) c.3368C>A (p.Thr1123Asn) c.3362C>A (p.Thr1121Asn) c.3335C>A (p.Thr1112Asn) c.3329C>A (p.Thr1110Asn) c.3323C>A (p.Thr1108Asn) c.3284C>A (p.Thr1095Asn) c.3272C>A (p.Thr1091Asn) c.3215C>A (p.Thr1072Asn) c.3191C>A (p.Thr1064Asn) c.3185C>A (p.Thr1062Asn) c.3167C>A (p.Thr1056Asn) c.3113C>A (p.Thr1038Asn) c.3118-183C>A (n.3118-183C>A) c.2420C>A (p.Thr807Asn) c.2333C>A (p.Thr778Asn) n.3609C>A | dbSNP |
17 | g.39727506C>G | CA399312703 | ERBB2 | c.3371C>G (p.Thr1124Ser) c.3281C>G (p.Thr1094Ser) c.2543C>G (p.Thr848Ser) c.3326C>G (p.Thr1109Ser) c.*3161C>G (n.*3161C>G) c.3160-183C>G (n.3160-183C>G) n.3695C>G c.3509C>G (p.Thr1170Ser) c.3464C>G (p.Thr1155Ser) c.3419C>G (p.Thr1140Ser) c.3488C>G (p.Thr1163Ser) c.3473C>G (p.Thr1158Ser) c.3452C>G (p.Thr1151Ser) c.3446C>G (p.Thr1149Ser) c.3401C>G (p.Thr1134Ser) c.3392C>G (p.Thr1131Ser) c.3368C>G (p.Thr1123Ser) c.3362C>G (p.Thr1121Ser) c.3335C>G (p.Thr1112Ser) c.3329C>G (p.Thr1110Ser) c.3323C>G (p.Thr1108Ser) c.3284C>G (p.Thr1095Ser) c.3272C>G (p.Thr1091Ser) c.3215C>G (p.Thr1072Ser) c.3191C>G (p.Thr1064Ser) c.3185C>G (p.Thr1062Ser) c.3167C>G (p.Thr1056Ser) c.3113C>G (p.Thr1038Ser) c.3118-183C>G (n.3118-183C>G) c.2420C>G (p.Thr807Ser) c.2333C>G (p.Thr778Ser) n.3609C>G | |
17 | g.39727506C>T | CA399312705 | ERBB2 | c.3371C>T (p.Thr1124Ile) c.3281C>T (p.Thr1094Ile) c.2543C>T (p.Thr848Ile) c.3326C>T (p.Thr1109Ile) c.*3161C>T (n.*3161C>T) c.3160-183C>T (n.3160-183C>T) n.3695C>T c.3509C>T (p.Thr1170Ile) c.3464C>T (p.Thr1155Ile) c.3419C>T (p.Thr1140Ile) c.3488C>T (p.Thr1163Ile) c.3473C>T (p.Thr1158Ile) c.3452C>T (p.Thr1151Ile) c.3446C>T (p.Thr1149Ile) c.3401C>T (p.Thr1134Ile) c.3392C>T (p.Thr1131Ile) c.3368C>T (p.Thr1123Ile) c.3362C>T (p.Thr1121Ile) c.3335C>T (p.Thr1112Ile) c.3329C>T (p.Thr1110Ile) c.3323C>T (p.Thr1108Ile) c.3284C>T (p.Thr1095Ile) c.3272C>T (p.Thr1091Ile) c.3215C>T (p.Thr1072Ile) c.3191C>T (p.Thr1064Ile) c.3185C>T (p.Thr1062Ile) c.3167C>T (p.Thr1056Ile) c.3113C>T (p.Thr1038Ile) c.3118-183C>T (n.3118-183C>T) c.2420C>T (p.Thr807Ile) c.2333C>T (p.Thr778Ile) n.3609C>T | |
17 | g.39727507T>A | CA499890276 | ERBB2 | c.3372T>A (p.Thr1124=) c.3282T>A (p.Thr1094=) c.2544T>A (p.Thr848=) c.3327T>A (p.Thr1109=) c.*3162T>A (n.*3162T>A) c.3160-182T>A (n.3160-182T>A) n.3696T>A c.3510T>A (p.Thr1170=) c.3465T>A (p.Thr1155=) c.3420T>A (p.Thr1140=) c.3489T>A (p.Thr1163=) c.3474T>A (p.Thr1158=) c.3453T>A (p.Thr1151=) c.3447T>A (p.Thr1149=) c.3402T>A (p.Thr1134=) c.3393T>A (p.Thr1131=) c.3369T>A (p.Thr1123=) c.3363T>A (p.Thr1121=) c.3336T>A (p.Thr1112=) c.3330T>A (p.Thr1110=) c.3324T>A (p.Thr1108=) c.3285T>A (p.Thr1095=) c.3273T>A (p.Thr1091=) c.3216T>A (p.Thr1072=) c.3192T>A (p.Thr1064=) c.3186T>A (p.Thr1062=) c.3168T>A (p.Thr1056=) c.3114T>A (p.Thr1038=) c.3118-182T>A (n.3118-182T>A) c.2421T>A (p.Thr807=) c.2334T>A (p.Thr778=) n.3610T>A | |
17 | g.39727507T>C | CA499890277 | ERBB2 | c.3372T>C (p.Thr1124=) c.3282T>C (p.Thr1094=) c.2544T>C (p.Thr848=) c.3327T>C (p.Thr1109=) c.*3162T>C (n.*3162T>C) c.3160-182T>C (n.3160-182T>C) n.3696T>C c.3510T>C (p.Thr1170=) c.3465T>C (p.Thr1155=) c.3420T>C (p.Thr1140=) c.3489T>C (p.Thr1163=) c.3474T>C (p.Thr1158=) c.3453T>C (p.Thr1151=) c.3447T>C (p.Thr1149=) c.3402T>C (p.Thr1134=) c.3393T>C (p.Thr1131=) c.3369T>C (p.Thr1123=) c.3363T>C (p.Thr1121=) c.3336T>C (p.Thr1112=) c.3330T>C (p.Thr1110=) c.3324T>C (p.Thr1108=) c.3285T>C (p.Thr1095=) c.3273T>C (p.Thr1091=) c.3216T>C (p.Thr1072=) c.3192T>C (p.Thr1064=) c.3186T>C (p.Thr1062=) c.3168T>C (p.Thr1056=) c.3114T>C (p.Thr1038=) c.3118-182T>C (n.3118-182T>C) c.2421T>C (p.Thr807=) c.2334T>C (p.Thr778=) n.3610T>C | dbSNP gnomAD v4 |
17 | g.39727507T>G | CA499890278 | ERBB2 | c.3372T>G (p.Thr1124=) c.3282T>G (p.Thr1094=) c.2544T>G (p.Thr848=) c.3327T>G (p.Thr1109=) c.*3162T>G (n.*3162T>G) c.3160-182T>G (n.3160-182T>G) n.3696T>G c.3510T>G (p.Thr1170=) c.3465T>G (p.Thr1155=) c.3420T>G (p.Thr1140=) c.3489T>G (p.Thr1163=) c.3474T>G (p.Thr1158=) c.3453T>G (p.Thr1151=) c.3447T>G (p.Thr1149=) c.3402T>G (p.Thr1134=) c.3393T>G (p.Thr1131=) c.3369T>G (p.Thr1123=) c.3363T>G (p.Thr1121=) c.3336T>G (p.Thr1112=) c.3330T>G (p.Thr1110=) c.3324T>G (p.Thr1108=) c.3285T>G (p.Thr1095=) c.3273T>G (p.Thr1091=) c.3216T>G (p.Thr1072=) c.3192T>G (p.Thr1064=) c.3186T>G (p.Thr1062=) c.3168T>G (p.Thr1056=) c.3114T>G (p.Thr1038=) c.3118-182T>G (n.3118-182T>G) c.2421T>G (p.Thr807=) c.2334T>G (p.Thr778=) n.3610T>G | |
17 | g.39727507T= | CA2259229138 | ERBB2 | c.3372T= (p.Thr1124=) c.3282T= (p.Thr1094=) c.2544T= (p.Thr848=) c.3327T= (p.Thr1109=) c.*3162T= (n.*3162T=) c.3160-182T= (n.3160-182T=) n.3696T= c.3510T= (p.Thr1170=) c.3465T= (p.Thr1155=) c.3420T= (p.Thr1140=) c.3489T= (p.Thr1163=) c.3474T= (p.Thr1158=) c.3453T= (p.Thr1151=) c.3447T= (p.Thr1149=) c.3402T= (p.Thr1134=) c.3393T= (p.Thr1131=) c.3369T= (p.Thr1123=) c.3363T= (p.Thr1121=) c.3336T= (p.Thr1112=) c.3330T= (p.Thr1110=) c.3324T= (p.Thr1108=) c.3285T= (p.Thr1095=) c.3273T= (p.Thr1091=) c.3216T= (p.Thr1072=) c.3192T= (p.Thr1064=) c.3186T= (p.Thr1062=) c.3168T= (p.Thr1056=) c.3114T= (p.Thr1038=) c.3118-182T= (n.3118-182T=) c.2421T= (p.Thr807=) c.2334T= (p.Thr778=) n.3610T= | |
17 | g.39727508G>A | CA399312707 | ERBB2 | c.3373G>A (p.Asp1125Asn) c.3283G>A (p.Asp1095Asn) c.2545G>A (p.Asp849Asn) c.3328G>A (p.Asp1110Asn) c.*3163G>A (n.*3163G>A) c.3160-181G>A (n.3160-181G>A) n.3697G>A c.3511G>A (p.Asp1171Asn) c.3466G>A (p.Asp1156Asn) c.3421G>A (p.Asp1141Asn) c.3490G>A (p.Asp1164Asn) c.3475G>A (p.Asp1159Asn) c.3454G>A (p.Asp1152Asn) c.3448G>A (p.Asp1150Asn) c.3403G>A (p.Asp1135Asn) c.3394G>A (p.Asp1132Asn) c.3370G>A (p.Asp1124Asn) c.3364G>A (p.Asp1122Asn) c.3337G>A (p.Asp1113Asn) c.3331G>A (p.Asp1111Asn) c.3325G>A (p.Asp1109Asn) c.3286G>A (p.Asp1096Asn) c.3274G>A (p.Asp1092Asn) c.3217G>A (p.Asp1073Asn) c.3193G>A (p.Asp1065Asn) c.3187G>A (p.Asp1063Asn) c.3169G>A (p.Asp1057Asn) c.3115G>A (p.Asp1039Asn) c.3118-181G>A (n.3118-181G>A) c.2422G>A (p.Asp808Asn) c.2335G>A (p.Asp779Asn) n.3611G>A | dbSNP gnomAD v4 |
17 | g.39727508G>C | CA399312709 | ERBB2 | c.3373G>C (p.Asp1125His) c.3283G>C (p.Asp1095His) c.2545G>C (p.Asp849His) c.3328G>C (p.Asp1110His) c.*3163G>C (n.*3163G>C) c.3160-181G>C (n.3160-181G>C) n.3697G>C c.3511G>C (p.Asp1171His) c.3466G>C (p.Asp1156His) c.3421G>C (p.Asp1141His) c.3490G>C (p.Asp1164His) c.3475G>C (p.Asp1159His) c.3454G>C (p.Asp1152His) c.3448G>C (p.Asp1150His) c.3403G>C (p.Asp1135His) c.3394G>C (p.Asp1132His) c.3370G>C (p.Asp1124His) c.3364G>C (p.Asp1122His) c.3337G>C (p.Asp1113His) c.3331G>C (p.Asp1111His) c.3325G>C (p.Asp1109His) c.3286G>C (p.Asp1096His) c.3274G>C (p.Asp1092His) c.3217G>C (p.Asp1073His) c.3193G>C (p.Asp1065His) c.3187G>C (p.Asp1063His) c.3169G>C (p.Asp1057His) c.3115G>C (p.Asp1039His) c.3118-181G>C (n.3118-181G>C) c.2422G>C (p.Asp808His) c.2335G>C (p.Asp779His) n.3611G>C | dbSNP |
17 | g.39727508G>T | CA399312711 | ERBB2 | c.3373G>T (p.Asp1125Tyr) c.3283G>T (p.Asp1095Tyr) c.2545G>T (p.Asp849Tyr) c.3328G>T (p.Asp1110Tyr) c.*3163G>T (n.*3163G>T) c.3160-181G>T (n.3160-181G>T) n.3697G>T c.3511G>T (p.Asp1171Tyr) c.3466G>T (p.Asp1156Tyr) c.3421G>T (p.Asp1141Tyr) c.3490G>T (p.Asp1164Tyr) c.3475G>T (p.Asp1159Tyr) c.3454G>T (p.Asp1152Tyr) c.3448G>T (p.Asp1150Tyr) c.3403G>T (p.Asp1135Tyr) c.3394G>T (p.Asp1132Tyr) c.3370G>T (p.Asp1124Tyr) c.3364G>T (p.Asp1122Tyr) c.3337G>T (p.Asp1113Tyr) c.3331G>T (p.Asp1111Tyr) c.3325G>T (p.Asp1109Tyr) c.3286G>T (p.Asp1096Tyr) c.3274G>T (p.Asp1092Tyr) c.3217G>T (p.Asp1073Tyr) c.3193G>T (p.Asp1065Tyr) c.3187G>T (p.Asp1063Tyr) c.3169G>T (p.Asp1057Tyr) c.3115G>T (p.Asp1039Tyr) c.3118-181G>T (n.3118-181G>T) c.2422G>T (p.Asp808Tyr) c.2335G>T (p.Asp779Tyr) n.3611G>T | dbSNP |
17 | g.39727509A>C | CA399312717 | ERBB2 | c.3374A>C (p.Asp1125Ala) c.3284A>C (p.Asp1095Ala) c.2546A>C (p.Asp849Ala) c.3329A>C (p.Asp1110Ala) c.*3164A>C (n.*3164A>C) c.3160-180A>C (n.3160-180A>C) n.3698A>C c.3512A>C (p.Asp1171Ala) c.3467A>C (p.Asp1156Ala) c.3422A>C (p.Asp1141Ala) c.3491A>C (p.Asp1164Ala) c.3476A>C (p.Asp1159Ala) c.3455A>C (p.Asp1152Ala) c.3449A>C (p.Asp1150Ala) c.3404A>C (p.Asp1135Ala) c.3395A>C (p.Asp1132Ala) c.3371A>C (p.Asp1124Ala) c.3365A>C (p.Asp1122Ala) c.3338A>C (p.Asp1113Ala) c.3332A>C (p.Asp1111Ala) c.3326A>C (p.Asp1109Ala) c.3287A>C (p.Asp1096Ala) c.3275A>C (p.Asp1092Ala) c.3218A>C (p.Asp1073Ala) c.3194A>C (p.Asp1065Ala) c.3188A>C (p.Asp1063Ala) c.3170A>C (p.Asp1057Ala) c.3116A>C (p.Asp1039Ala) c.3118-180A>C (n.3118-180A>C) c.2423A>C (p.Asp808Ala) c.2336A>C (p.Asp779Ala) n.3612A>C | dbSNP |
17 | g.39727509A>G | CA399312716 | ERBB2 | c.3374A>G (p.Asp1125Gly) c.3284A>G (p.Asp1095Gly) c.2546A>G (p.Asp849Gly) c.3329A>G (p.Asp1110Gly) c.*3164A>G (n.*3164A>G) c.3160-180A>G (n.3160-180A>G) n.3698A>G c.3512A>G (p.Asp1171Gly) c.3467A>G (p.Asp1156Gly) c.3422A>G (p.Asp1141Gly) c.3491A>G (p.Asp1164Gly) c.3476A>G (p.Asp1159Gly) c.3455A>G (p.Asp1152Gly) c.3449A>G (p.Asp1150Gly) c.3404A>G (p.Asp1135Gly) c.3395A>G (p.Asp1132Gly) c.3371A>G (p.Asp1124Gly) c.3365A>G (p.Asp1122Gly) c.3338A>G (p.Asp1113Gly) c.3332A>G (p.Asp1111Gly) c.3326A>G (p.Asp1109Gly) c.3287A>G (p.Asp1096Gly) c.3275A>G (p.Asp1092Gly) c.3218A>G (p.Asp1073Gly) c.3194A>G (p.Asp1065Gly) c.3188A>G (p.Asp1063Gly) c.3170A>G (p.Asp1057Gly) c.3116A>G (p.Asp1039Gly) c.3118-180A>G (n.3118-180A>G) c.2423A>G (p.Asp808Gly) c.2336A>G (p.Asp779Gly) n.3612A>G | dbSNP |
17 | g.39727509A>T | CA399312713 | ERBB2 | c.3374A>T (p.Asp1125Val) c.3284A>T (p.Asp1095Val) c.2546A>T (p.Asp849Val) c.3329A>T (p.Asp1110Val) c.*3164A>T (n.*3164A>T) c.3160-180A>T (n.3160-180A>T) n.3698A>T c.3512A>T (p.Asp1171Val) c.3467A>T (p.Asp1156Val) c.3422A>T (p.Asp1141Val) c.3491A>T (p.Asp1164Val) c.3476A>T (p.Asp1159Val) c.3455A>T (p.Asp1152Val) c.3449A>T (p.Asp1150Val) c.3404A>T (p.Asp1135Val) c.3395A>T (p.Asp1132Val) c.3371A>T (p.Asp1124Val) c.3365A>T (p.Asp1122Val) c.3338A>T (p.Asp1113Val) c.3332A>T (p.Asp1111Val) c.3326A>T (p.Asp1109Val) c.3287A>T (p.Asp1096Val) c.3275A>T (p.Asp1092Val) c.3218A>T (p.Asp1073Val) c.3194A>T (p.Asp1065Val) c.3188A>T (p.Asp1063Val) c.3170A>T (p.Asp1057Val) c.3116A>T (p.Asp1039Val) c.3118-180A>T (n.3118-180A>T) c.2423A>T (p.Asp808Val) c.2336A>T (p.Asp779Val) n.3612A>T | dbSNP |
17 | g.39727510T>A | CA8534529 | ERBB2 | c.3375T>A (p.Asp1125Glu) c.3285T>A (p.Asp1095Glu) c.2547T>A (p.Asp849Glu) c.3330T>A (p.Asp1110Glu) c.*3165T>A (n.*3165T>A) c.3160-179T>A (n.3160-179T>A) n.3699T>A c.3513T>A (p.Asp1171Glu) c.3468T>A (p.Asp1156Glu) c.3423T>A (p.Asp1141Glu) c.3492T>A (p.Asp1164Glu) c.3477T>A (p.Asp1159Glu) c.3456T>A (p.Asp1152Glu) c.3450T>A (p.Asp1150Glu) c.3405T>A (p.Asp1135Glu) c.3396T>A (p.Asp1132Glu) c.3372T>A (p.Asp1124Glu) c.3366T>A (p.Asp1122Glu) c.3339T>A (p.Asp1113Glu) c.3333T>A (p.Asp1111Glu) c.3327T>A (p.Asp1109Glu) c.3288T>A (p.Asp1096Glu) c.3276T>A (p.Asp1092Glu) c.3219T>A (p.Asp1073Glu) c.3195T>A (p.Asp1065Glu) c.3189T>A (p.Asp1063Glu) c.3171T>A (p.Asp1057Glu) c.3117T>A (p.Asp1039Glu) c.3118-179T>A (n.3118-179T>A) c.2424T>A (p.Asp808Glu) c.2337T>A (p.Asp779Glu) n.3613T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39727510T>C | CA8534530 | ERBB2 | c.3375T>C (p.Asp1125=) c.3285T>C (p.Asp1095=) c.2547T>C (p.Asp849=) c.3330T>C (p.Asp1110=) c.*3165T>C (n.*3165T>C) c.3160-179T>C (n.3160-179T>C) n.3699T>C c.3513T>C (p.Asp1171=) c.3468T>C (p.Asp1156=) c.3423T>C (p.Asp1141=) c.3492T>C (p.Asp1164=) c.3477T>C (p.Asp1159=) c.3456T>C (p.Asp1152=) c.3450T>C (p.Asp1150=) c.3405T>C (p.Asp1135=) c.3396T>C (p.Asp1132=) c.3372T>C (p.Asp1124=) c.3366T>C (p.Asp1122=) c.3339T>C (p.Asp1113=) c.3333T>C (p.Asp1111=) c.3327T>C (p.Asp1109=) c.3288T>C (p.Asp1096=) c.3276T>C (p.Asp1092=) c.3219T>C (p.Asp1073=) c.3195T>C (p.Asp1065=) c.3189T>C (p.Asp1063=) c.3171T>C (p.Asp1057=) c.3117T>C (p.Asp1039=) c.3118-179T>C (n.3118-179T>C) c.2424T>C (p.Asp808=) c.2337T>C (p.Asp779=) n.3613T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39727510T>G | CA399312721 | ERBB2 | c.3375T>G (p.Asp1125Glu) c.3285T>G (p.Asp1095Glu) c.2547T>G (p.Asp849Glu) c.3330T>G (p.Asp1110Glu) c.*3165T>G (n.*3165T>G) c.3160-179T>G (n.3160-179T>G) n.3699T>G c.3513T>G (p.Asp1171Glu) c.3468T>G (p.Asp1156Glu) c.3423T>G (p.Asp1141Glu) c.3492T>G (p.Asp1164Glu) c.3477T>G (p.Asp1159Glu) c.3456T>G (p.Asp1152Glu) c.3450T>G (p.Asp1150Glu) c.3405T>G (p.Asp1135Glu) c.3396T>G (p.Asp1132Glu) c.3372T>G (p.Asp1124Glu) c.3366T>G (p.Asp1122Glu) c.3339T>G (p.Asp1113Glu) c.3333T>G (p.Asp1111Glu) c.3327T>G (p.Asp1109Glu) c.3288T>G (p.Asp1096Glu) c.3276T>G (p.Asp1092Glu) c.3219T>G (p.Asp1073Glu) c.3195T>G (p.Asp1065Glu) c.3189T>G (p.Asp1063Glu) c.3171T>G (p.Asp1057Glu) c.3117T>G (p.Asp1039Glu) c.3118-179T>G (n.3118-179T>G) c.2424T>G (p.Asp808Glu) c.2337T>G (p.Asp779Glu) n.3613T>G | |
17 | g.39727510T= | CA2259229139 | ERBB2 | c.3375T= (p.Asp1125=) c.3285T= (p.Asp1095=) c.2547T= (p.Asp849=) c.3330T= (p.Asp1110=) c.*3165T= (n.*3165T=) c.3160-179T= (n.3160-179T=) n.3699T= c.3513T= (p.Asp1171=) c.3468T= (p.Asp1156=) c.3423T= (p.Asp1141=) c.3492T= (p.Asp1164=) c.3477T= (p.Asp1159=) c.3456T= (p.Asp1152=) c.3450T= (p.Asp1150=) c.3405T= (p.Asp1135=) c.3396T= (p.Asp1132=) c.3372T= (p.Asp1124=) c.3366T= (p.Asp1122=) c.3339T= (p.Asp1113=) c.3333T= (p.Asp1111=) c.3327T= (p.Asp1109=) c.3288T= (p.Asp1096=) c.3276T= (p.Asp1092=) c.3219T= (p.Asp1073=) c.3195T= (p.Asp1065=) c.3189T= (p.Asp1063=) c.3171T= (p.Asp1057=) c.3117T= (p.Asp1039=) c.3118-179T= (n.3118-179T=) c.2424T= (p.Asp808=) c.2337T= (p.Asp779=) n.3613T= | |
17 | g.39727511G>A | CA399312723 | ERBB2 | c.3376G>A (p.Gly1126Ser) c.3286G>A (p.Gly1096Ser) c.2548G>A (p.Gly850Ser) c.3331G>A (p.Gly1111Ser) c.*3166G>A (n.*3166G>A) c.3160-178G>A (n.3160-178G>A) n.3700G>A c.3514G>A (p.Gly1172Ser) c.3469G>A (p.Gly1157Ser) c.3424G>A (p.Gly1142Ser) c.3493G>A (p.Gly1165Ser) c.3478G>A (p.Gly1160Ser) c.3457G>A (p.Gly1153Ser) c.3451G>A (p.Gly1151Ser) c.3406G>A (p.Gly1136Ser) c.3397G>A (p.Gly1133Ser) c.3373G>A (p.Gly1125Ser) c.3367G>A (p.Gly1123Ser) c.3340G>A (p.Gly1114Ser) c.3334G>A (p.Gly1112Ser) c.3328G>A (p.Gly1110Ser) c.3289G>A (p.Gly1097Ser) c.3277G>A (p.Gly1093Ser) c.3220G>A (p.Gly1074Ser) c.3196G>A (p.Gly1066Ser) c.3190G>A (p.Gly1064Ser) c.3172G>A (p.Gly1058Ser) c.3118G>A (p.Gly1040Ser) c.3118-178G>A (n.3118-178G>A) c.2425G>A (p.Gly809Ser) c.2338G>A (p.Gly780Ser) n.3614G>A | dbSNP |
17 | g.39727511G>C | CA399312725 | ERBB2 | c.3376G>C (p.Gly1126Arg) c.3286G>C (p.Gly1096Arg) c.2548G>C (p.Gly850Arg) c.3331G>C (p.Gly1111Arg) c.*3166G>C (n.*3166G>C) c.3160-178G>C (n.3160-178G>C) n.3700G>C c.3514G>C (p.Gly1172Arg) c.3469G>C (p.Gly1157Arg) c.3424G>C (p.Gly1142Arg) c.3493G>C (p.Gly1165Arg) c.3478G>C (p.Gly1160Arg) c.3457G>C (p.Gly1153Arg) c.3451G>C (p.Gly1151Arg) c.3406G>C (p.Gly1136Arg) c.3397G>C (p.Gly1133Arg) c.3373G>C (p.Gly1125Arg) c.3367G>C (p.Gly1123Arg) c.3340G>C (p.Gly1114Arg) c.3334G>C (p.Gly1112Arg) c.3328G>C (p.Gly1110Arg) c.3289G>C (p.Gly1097Arg) c.3277G>C (p.Gly1093Arg) c.3220G>C (p.Gly1074Arg) c.3196G>C (p.Gly1066Arg) c.3190G>C (p.Gly1064Arg) c.3172G>C (p.Gly1058Arg) c.3118G>C (p.Gly1040Arg) c.3118-178G>C (n.3118-178G>C) c.2425G>C (p.Gly809Arg) c.2338G>C (p.Gly780Arg) n.3614G>C | dbSNP |
17 | g.39727511G>T | CA399312727 | ERBB2 | c.3376G>T (p.Gly1126Cys) c.3286G>T (p.Gly1096Cys) c.2548G>T (p.Gly850Cys) c.3331G>T (p.Gly1111Cys) c.*3166G>T (n.*3166G>T) c.3160-178G>T (n.3160-178G>T) n.3700G>T c.3514G>T (p.Gly1172Cys) c.3469G>T (p.Gly1157Cys) c.3424G>T (p.Gly1142Cys) c.3493G>T (p.Gly1165Cys) c.3478G>T (p.Gly1160Cys) c.3457G>T (p.Gly1153Cys) c.3451G>T (p.Gly1151Cys) c.3406G>T (p.Gly1136Cys) c.3397G>T (p.Gly1133Cys) c.3373G>T (p.Gly1125Cys) c.3367G>T (p.Gly1123Cys) c.3340G>T (p.Gly1114Cys) c.3334G>T (p.Gly1112Cys) c.3328G>T (p.Gly1110Cys) c.3289G>T (p.Gly1097Cys) c.3277G>T (p.Gly1093Cys) c.3220G>T (p.Gly1074Cys) c.3196G>T (p.Gly1066Cys) c.3190G>T (p.Gly1064Cys) c.3172G>T (p.Gly1058Cys) c.3118G>T (p.Gly1040Cys) c.3118-178G>T (n.3118-178G>T) c.2425G>T (p.Gly809Cys) c.2338G>T (p.Gly780Cys) n.3614G>T | dbSNP |
17 | g.39727512G>A | CA399312729 | ERBB2 | c.3377G>A (p.Gly1126Asp) c.3287G>A (p.Gly1096Asp) c.2549G>A (p.Gly850Asp) c.3332G>A (p.Gly1111Asp) c.*3167G>A (n.*3167G>A) c.3160-177G>A (n.3160-177G>A) n.3701G>A c.3515G>A (p.Gly1172Asp) c.3470G>A (p.Gly1157Asp) c.3425G>A (p.Gly1142Asp) c.3494G>A (p.Gly1165Asp) c.3479G>A (p.Gly1160Asp) c.3458G>A (p.Gly1153Asp) c.3452G>A (p.Gly1151Asp) c.3407G>A (p.Gly1136Asp) c.3398G>A (p.Gly1133Asp) c.3374G>A (p.Gly1125Asp) c.3368G>A (p.Gly1123Asp) c.3341G>A (p.Gly1114Asp) c.3335G>A (p.Gly1112Asp) c.3329G>A (p.Gly1110Asp) c.3290G>A (p.Gly1097Asp) c.3278G>A (p.Gly1093Asp) c.3221G>A (p.Gly1074Asp) c.3197G>A (p.Gly1066Asp) c.3191G>A (p.Gly1064Asp) c.3173G>A (p.Gly1058Asp) c.3119G>A (p.Gly1040Asp) c.3118-177G>A (n.3118-177G>A) c.2426G>A (p.Gly809Asp) c.2339G>A (p.Gly780Asp) n.3615G>A | dbSNP gnomAD v4 |
17 | g.39727512G>C | CA399312731 | ERBB2 | c.3377G>C (p.Gly1126Ala) c.3287G>C (p.Gly1096Ala) c.2549G>C (p.Gly850Ala) c.3332G>C (p.Gly1111Ala) c.*3167G>C (n.*3167G>C) c.3160-177G>C (n.3160-177G>C) n.3701G>C c.3515G>C (p.Gly1172Ala) c.3470G>C (p.Gly1157Ala) c.3425G>C (p.Gly1142Ala) c.3494G>C (p.Gly1165Ala) c.3479G>C (p.Gly1160Ala) c.3458G>C (p.Gly1153Ala) c.3452G>C (p.Gly1151Ala) c.3407G>C (p.Gly1136Ala) c.3398G>C (p.Gly1133Ala) c.3374G>C (p.Gly1125Ala) c.3368G>C (p.Gly1123Ala) c.3341G>C (p.Gly1114Ala) c.3335G>C (p.Gly1112Ala) c.3329G>C (p.Gly1110Ala) c.3290G>C (p.Gly1097Ala) c.3278G>C (p.Gly1093Ala) c.3221G>C (p.Gly1074Ala) c.3197G>C (p.Gly1066Ala) c.3191G>C (p.Gly1064Ala) c.3173G>C (p.Gly1058Ala) c.3119G>C (p.Gly1040Ala) c.3118-177G>C (n.3118-177G>C) c.2426G>C (p.Gly809Ala) c.2339G>C (p.Gly780Ala) n.3615G>C | dbSNP gnomAD v4 |
17 | g.39727512G>T | CA399312733 | ERBB2 | c.3377G>T (p.Gly1126Val) c.3287G>T (p.Gly1096Val) c.2549G>T (p.Gly850Val) c.3332G>T (p.Gly1111Val) c.*3167G>T (n.*3167G>T) c.3160-177G>T (n.3160-177G>T) n.3701G>T c.3515G>T (p.Gly1172Val) c.3470G>T (p.Gly1157Val) c.3425G>T (p.Gly1142Val) c.3494G>T (p.Gly1165Val) c.3479G>T (p.Gly1160Val) c.3458G>T (p.Gly1153Val) c.3452G>T (p.Gly1151Val) c.3407G>T (p.Gly1136Val) c.3398G>T (p.Gly1133Val) c.3374G>T (p.Gly1125Val) c.3368G>T (p.Gly1123Val) c.3341G>T (p.Gly1114Val) c.3335G>T (p.Gly1112Val) c.3329G>T (p.Gly1110Val) c.3290G>T (p.Gly1097Val) c.3278G>T (p.Gly1093Val) c.3221G>T (p.Gly1074Val) c.3197G>T (p.Gly1066Val) c.3191G>T (p.Gly1064Val) c.3173G>T (p.Gly1058Val) c.3119G>T (p.Gly1040Val) c.3118-177G>T (n.3118-177G>T) c.2426G>T (p.Gly809Val) c.2339G>T (p.Gly780Val) n.3615G>T | dbSNP gnomAD v4 |
17 | g.39727513C>A | CA499890279 | ERBB2 | c.3378C>A (p.Gly1126=) c.3288C>A (p.Gly1096=) c.2550C>A (p.Gly850=) c.3333C>A (p.Gly1111=) c.*3168C>A (n.*3168C>A) c.3160-176C>A (n.3160-176C>A) n.3702C>A c.3516C>A (p.Gly1172=) c.3471C>A (p.Gly1157=) c.3426C>A (p.Gly1142=) c.3495C>A (p.Gly1165=) c.3480C>A (p.Gly1160=) c.3459C>A (p.Gly1153=) c.3453C>A (p.Gly1151=) c.3408C>A (p.Gly1136=) c.3399C>A (p.Gly1133=) c.3375C>A (p.Gly1125=) c.3369C>A (p.Gly1123=) c.3342C>A (p.Gly1114=) c.3336C>A (p.Gly1112=) c.3330C>A (p.Gly1110=) c.3291C>A (p.Gly1097=) c.3279C>A (p.Gly1093=) c.3222C>A (p.Gly1074=) c.3198C>A (p.Gly1066=) c.3192C>A (p.Gly1064=) c.3174C>A (p.Gly1058=) c.3120C>A (p.Gly1040=) c.3118-176C>A (n.3118-176C>A) c.2427C>A (p.Gly809=) c.2340C>A (p.Gly780=) n.3616C>A | dbSNP |
17 | g.39727513C>G | CA499890280 | ERBB2 | c.3378C>G (p.Gly1126=) c.3288C>G (p.Gly1096=) c.2550C>G (p.Gly850=) c.3333C>G (p.Gly1111=) c.*3168C>G (n.*3168C>G) c.3160-176C>G (n.3160-176C>G) n.3702C>G c.3516C>G (p.Gly1172=) c.3471C>G (p.Gly1157=) c.3426C>G (p.Gly1142=) c.3495C>G (p.Gly1165=) c.3480C>G (p.Gly1160=) c.3459C>G (p.Gly1153=) c.3453C>G (p.Gly1151=) c.3408C>G (p.Gly1136=) c.3399C>G (p.Gly1133=) c.3375C>G (p.Gly1125=) c.3369C>G (p.Gly1123=) c.3342C>G (p.Gly1114=) c.3336C>G (p.Gly1112=) c.3330C>G (p.Gly1110=) c.3291C>G (p.Gly1097=) c.3279C>G (p.Gly1093=) c.3222C>G (p.Gly1074=) c.3198C>G (p.Gly1066=) c.3192C>G (p.Gly1064=) c.3174C>G (p.Gly1058=) c.3120C>G (p.Gly1040=) c.3118-176C>G (n.3118-176C>G) c.2427C>G (p.Gly809=) c.2340C>G (p.Gly780=) n.3616C>G | dbSNP |
17 | g.39727513C>T | CA499890281 | ERBB2 | c.3378C>T (p.Gly1126=) c.3288C>T (p.Gly1096=) c.2550C>T (p.Gly850=) c.3333C>T (p.Gly1111=) c.*3168C>T (n.*3168C>T) c.3160-176C>T (n.3160-176C>T) n.3702C>T c.3516C>T (p.Gly1172=) c.3471C>T (p.Gly1157=) c.3426C>T (p.Gly1142=) c.3495C>T (p.Gly1165=) c.3480C>T (p.Gly1160=) c.3459C>T (p.Gly1153=) c.3453C>T (p.Gly1151=) c.3408C>T (p.Gly1136=) c.3399C>T (p.Gly1133=) c.3375C>T (p.Gly1125=) c.3369C>T (p.Gly1123=) c.3342C>T (p.Gly1114=) c.3336C>T (p.Gly1112=) c.3330C>T (p.Gly1110=) c.3291C>T (p.Gly1097=) c.3279C>T (p.Gly1093=) c.3222C>T (p.Gly1074=) c.3198C>T (p.Gly1066=) c.3192C>T (p.Gly1064=) c.3174C>T (p.Gly1058=) c.3120C>T (p.Gly1040=) c.3118-176C>T (n.3118-176C>T) c.2427C>T (p.Gly809=) c.2340C>T (p.Gly780=) n.3616C>T | dbSNP |
17 | g.39727514T>A | CA399312734 | ERBB2 | c.3379T>A (p.Tyr1127Asn) c.3289T>A (p.Tyr1097Asn) c.2551T>A (p.Tyr851Asn) c.3334T>A (p.Tyr1112Asn) c.*3169T>A (n.*3169T>A) c.3160-175T>A (n.3160-175T>A) n.3703T>A c.3517T>A (p.Tyr1173Asn) c.3472T>A (p.Tyr1158Asn) c.3427T>A (p.Tyr1143Asn) c.3496T>A (p.Tyr1166Asn) c.3481T>A (p.Tyr1161Asn) c.3460T>A (p.Tyr1154Asn) c.3454T>A (p.Tyr1152Asn) c.3409T>A (p.Tyr1137Asn) c.3400T>A (p.Tyr1134Asn) c.3376T>A (p.Tyr1126Asn) c.3370T>A (p.Tyr1124Asn) c.3343T>A (p.Tyr1115Asn) c.3337T>A (p.Tyr1113Asn) c.3331T>A (p.Tyr1111Asn) c.3292T>A (p.Tyr1098Asn) c.3280T>A (p.Tyr1094Asn) c.3223T>A (p.Tyr1075Asn) c.3199T>A (p.Tyr1067Asn) c.3193T>A (p.Tyr1065Asn) c.3175T>A (p.Tyr1059Asn) c.3121T>A (p.Tyr1041Asn) c.3118-175T>A (n.3118-175T>A) c.2428T>A (p.Tyr810Asn) c.2341T>A (p.Tyr781Asn) n.3617T>A | dbSNP gnomAD v4 |
17 | g.39727514T>C | CA399312735 | ERBB2 | c.3379T>C (p.Tyr1127His) c.3289T>C (p.Tyr1097His) c.2551T>C (p.Tyr851His) c.3334T>C (p.Tyr1112His) c.*3169T>C (n.*3169T>C) c.3160-175T>C (n.3160-175T>C) n.3703T>C c.3517T>C (p.Tyr1173His) c.3472T>C (p.Tyr1158His) c.3427T>C (p.Tyr1143His) c.3496T>C (p.Tyr1166His) c.3481T>C (p.Tyr1161His) c.3460T>C (p.Tyr1154His) c.3454T>C (p.Tyr1152His) c.3409T>C (p.Tyr1137His) c.3400T>C (p.Tyr1134His) c.3376T>C (p.Tyr1126His) c.3370T>C (p.Tyr1124His) c.3343T>C (p.Tyr1115His) c.3337T>C (p.Tyr1113His) c.3331T>C (p.Tyr1111His) c.3292T>C (p.Tyr1098His) c.3280T>C (p.Tyr1094His) c.3223T>C (p.Tyr1075His) c.3199T>C (p.Tyr1067His) c.3193T>C (p.Tyr1065His) c.3175T>C (p.Tyr1059His) c.3121T>C (p.Tyr1041His) c.3118-175T>C (n.3118-175T>C) c.2428T>C (p.Tyr810His) c.2341T>C (p.Tyr781His) n.3617T>C | dbSNP |
17 | g.39727514T>G | CA399312736 | ERBB2 | c.3379T>G (p.Tyr1127Asp) c.3289T>G (p.Tyr1097Asp) c.2551T>G (p.Tyr851Asp) c.3334T>G (p.Tyr1112Asp) c.*3169T>G (n.*3169T>G) c.3160-175T>G (n.3160-175T>G) n.3703T>G c.3517T>G (p.Tyr1173Asp) c.3472T>G (p.Tyr1158Asp) c.3427T>G (p.Tyr1143Asp) c.3496T>G (p.Tyr1166Asp) c.3481T>G (p.Tyr1161Asp) c.3460T>G (p.Tyr1154Asp) c.3454T>G (p.Tyr1152Asp) c.3409T>G (p.Tyr1137Asp) c.3400T>G (p.Tyr1134Asp) c.3376T>G (p.Tyr1126Asp) c.3370T>G (p.Tyr1124Asp) c.3343T>G (p.Tyr1115Asp) c.3337T>G (p.Tyr1113Asp) c.3331T>G (p.Tyr1111Asp) c.3292T>G (p.Tyr1098Asp) c.3280T>G (p.Tyr1094Asp) c.3223T>G (p.Tyr1075Asp) c.3199T>G (p.Tyr1067Asp) c.3193T>G (p.Tyr1065Asp) c.3175T>G (p.Tyr1059Asp) c.3121T>G (p.Tyr1041Asp) c.3118-175T>G (n.3118-175T>G) c.2428T>G (p.Tyr810Asp) c.2341T>G (p.Tyr781Asp) n.3617T>G | |
17 | g.39727515A>C | CA399312739 | ERBB2 | c.3380A>C (p.Tyr1127Ser) c.3290A>C (p.Tyr1097Ser) c.2552A>C (p.Tyr851Ser) c.3335A>C (p.Tyr1112Ser) c.*3170A>C (n.*3170A>C) c.3160-174A>C (n.3160-174A>C) n.3704A>C c.3518A>C (p.Tyr1173Ser) c.3473A>C (p.Tyr1158Ser) c.3428A>C (p.Tyr1143Ser) c.3497A>C (p.Tyr1166Ser) c.3482A>C (p.Tyr1161Ser) c.3461A>C (p.Tyr1154Ser) c.3455A>C (p.Tyr1152Ser) c.3410A>C (p.Tyr1137Ser) c.3401A>C (p.Tyr1134Ser) c.3377A>C (p.Tyr1126Ser) c.3371A>C (p.Tyr1124Ser) c.3344A>C (p.Tyr1115Ser) c.3338A>C (p.Tyr1113Ser) c.3332A>C (p.Tyr1111Ser) c.3293A>C (p.Tyr1098Ser) c.3281A>C (p.Tyr1094Ser) c.3224A>C (p.Tyr1075Ser) c.3200A>C (p.Tyr1067Ser) c.3194A>C (p.Tyr1065Ser) c.3176A>C (p.Tyr1059Ser) c.3122A>C (p.Tyr1041Ser) c.3118-174A>C (n.3118-174A>C) c.2429A>C (p.Tyr810Ser) c.2342A>C (p.Tyr781Ser) n.3618A>C | dbSNP |
17 | g.39727515A>G | CA399312738 | ERBB2 | c.3380A>G (p.Tyr1127Cys) c.3290A>G (p.Tyr1097Cys) c.2552A>G (p.Tyr851Cys) c.3335A>G (p.Tyr1112Cys) c.*3170A>G (n.*3170A>G) c.3160-174A>G (n.3160-174A>G) n.3704A>G c.3518A>G (p.Tyr1173Cys) c.3473A>G (p.Tyr1158Cys) c.3428A>G (p.Tyr1143Cys) c.3497A>G (p.Tyr1166Cys) c.3482A>G (p.Tyr1161Cys) c.3461A>G (p.Tyr1154Cys) c.3455A>G (p.Tyr1152Cys) c.3410A>G (p.Tyr1137Cys) c.3401A>G (p.Tyr1134Cys) c.3377A>G (p.Tyr1126Cys) c.3371A>G (p.Tyr1124Cys) c.3344A>G (p.Tyr1115Cys) c.3338A>G (p.Tyr1113Cys) c.3332A>G (p.Tyr1111Cys) c.3293A>G (p.Tyr1098Cys) c.3281A>G (p.Tyr1094Cys) c.3224A>G (p.Tyr1075Cys) c.3200A>G (p.Tyr1067Cys) c.3194A>G (p.Tyr1065Cys) c.3176A>G (p.Tyr1059Cys) c.3122A>G (p.Tyr1041Cys) c.3118-174A>G (n.3118-174A>G) c.2429A>G (p.Tyr810Cys) c.2342A>G (p.Tyr781Cys) n.3618A>G | dbSNP gnomAD v4 |
17 | g.39727515A>T | CA399312737 | ERBB2 | c.3380A>T (p.Tyr1127Phe) c.3290A>T (p.Tyr1097Phe) c.2552A>T (p.Tyr851Phe) c.3335A>T (p.Tyr1112Phe) c.*3170A>T (n.*3170A>T) c.3160-174A>T (n.3160-174A>T) n.3704A>T c.3518A>T (p.Tyr1173Phe) c.3473A>T (p.Tyr1158Phe) c.3428A>T (p.Tyr1143Phe) c.3497A>T (p.Tyr1166Phe) c.3482A>T (p.Tyr1161Phe) c.3461A>T (p.Tyr1154Phe) c.3455A>T (p.Tyr1152Phe) c.3410A>T (p.Tyr1137Phe) c.3401A>T (p.Tyr1134Phe) c.3377A>T (p.Tyr1126Phe) c.3371A>T (p.Tyr1124Phe) c.3344A>T (p.Tyr1115Phe) c.3338A>T (p.Tyr1113Phe) c.3332A>T (p.Tyr1111Phe) c.3293A>T (p.Tyr1098Phe) c.3281A>T (p.Tyr1094Phe) c.3224A>T (p.Tyr1075Phe) c.3200A>T (p.Tyr1067Phe) c.3194A>T (p.Tyr1065Phe) c.3176A>T (p.Tyr1059Phe) c.3122A>T (p.Tyr1041Phe) c.3118-174A>T (n.3118-174A>T) c.2429A>T (p.Tyr810Phe) c.2342A>T (p.Tyr781Phe) n.3618A>T | dbSNP gnomAD v4 |
17 | g.39727516C>A | CA399312740 | ERBB2 | c.3381C>A (p.Tyr1127Ter) c.3291C>A (p.Tyr1097Ter) c.2553C>A (p.Tyr851Ter) c.3336C>A (p.Tyr1112Ter) c.*3171C>A (n.*3171C>A) c.3160-173C>A (n.3160-173C>A) n.3705C>A c.3519C>A (p.Tyr1173Ter) c.3474C>A (p.Tyr1158Ter) c.3429C>A (p.Tyr1143Ter) c.3498C>A (p.Tyr1166Ter) c.3483C>A (p.Tyr1161Ter) c.3462C>A (p.Tyr1154Ter) c.3456C>A (p.Tyr1152Ter) c.3411C>A (p.Tyr1137Ter) c.3402C>A (p.Tyr1134Ter) c.3378C>A (p.Tyr1126Ter) c.3372C>A (p.Tyr1124Ter) c.3345C>A (p.Tyr1115Ter) c.3339C>A (p.Tyr1113Ter) c.3333C>A (p.Tyr1111Ter) c.3294C>A (p.Tyr1098Ter) c.3282C>A (p.Tyr1094Ter) c.3225C>A (p.Tyr1075Ter) c.3201C>A (p.Tyr1067Ter) c.3195C>A (p.Tyr1065Ter) c.3177C>A (p.Tyr1059Ter) c.3123C>A (p.Tyr1041Ter) c.3118-173C>A (n.3118-173C>A) c.2430C>A (p.Tyr810Ter) c.2343C>A (p.Tyr781Ter) n.3619C>A | dbSNP |
17 | g.39727516C= | CA2259229140 | ERBB2 | c.3381C= (p.Tyr1127=) c.3291C= (p.Tyr1097=) c.2553C= (p.Tyr851=) c.3336C= (p.Tyr1112=) c.*3171C= (n.*3171C=) c.3160-173C= (n.3160-173C=) n.3705C= c.3519C= (p.Tyr1173=) c.3474C= (p.Tyr1158=) c.3429C= (p.Tyr1143=) c.3498C= (p.Tyr1166=) c.3483C= (p.Tyr1161=) c.3462C= (p.Tyr1154=) c.3456C= (p.Tyr1152=) c.3411C= (p.Tyr1137=) c.3402C= (p.Tyr1134=) c.3378C= (p.Tyr1126=) c.3372C= (p.Tyr1124=) c.3345C= (p.Tyr1115=) c.3339C= (p.Tyr1113=) c.3333C= (p.Tyr1111=) c.3294C= (p.Tyr1098=) c.3282C= (p.Tyr1094=) c.3225C= (p.Tyr1075=) c.3201C= (p.Tyr1067=) c.3195C= (p.Tyr1065=) c.3177C= (p.Tyr1059=) c.3123C= (p.Tyr1041=) c.3118-173C= (n.3118-173C=) c.2430C= (p.Tyr810=) c.2343C= (p.Tyr781=) n.3619C= | |
17 | g.39727516C>G | CA399312741 | ERBB2 | c.3381C>G (p.Tyr1127Ter) c.3291C>G (p.Tyr1097Ter) c.2553C>G (p.Tyr851Ter) c.3336C>G (p.Tyr1112Ter) c.*3171C>G (n.*3171C>G) c.3160-173C>G (n.3160-173C>G) n.3705C>G c.3519C>G (p.Tyr1173Ter) c.3474C>G (p.Tyr1158Ter) c.3429C>G (p.Tyr1143Ter) c.3498C>G (p.Tyr1166Ter) c.3483C>G (p.Tyr1161Ter) c.3462C>G (p.Tyr1154Ter) c.3456C>G (p.Tyr1152Ter) c.3411C>G (p.Tyr1137Ter) c.3402C>G (p.Tyr1134Ter) c.3378C>G (p.Tyr1126Ter) c.3372C>G (p.Tyr1124Ter) c.3345C>G (p.Tyr1115Ter) c.3339C>G (p.Tyr1113Ter) c.3333C>G (p.Tyr1111Ter) c.3294C>G (p.Tyr1098Ter) c.3282C>G (p.Tyr1094Ter) c.3225C>G (p.Tyr1075Ter) c.3201C>G (p.Tyr1067Ter) c.3195C>G (p.Tyr1065Ter) c.3177C>G (p.Tyr1059Ter) c.3123C>G (p.Tyr1041Ter) c.3118-173C>G (n.3118-173C>G) c.2430C>G (p.Tyr810Ter) c.2343C>G (p.Tyr781Ter) n.3619C>G | dbSNP |
17 | g.39727516C>T | CA8534531 | ERBB2 | c.3381C>T (p.Tyr1127=) c.3291C>T (p.Tyr1097=) c.2553C>T (p.Tyr851=) c.3336C>T (p.Tyr1112=) c.*3171C>T (n.*3171C>T) c.3160-173C>T (n.3160-173C>T) n.3705C>T c.3519C>T (p.Tyr1173=) c.3474C>T (p.Tyr1158=) c.3429C>T (p.Tyr1143=) c.3498C>T (p.Tyr1166=) c.3483C>T (p.Tyr1161=) c.3462C>T (p.Tyr1154=) c.3456C>T (p.Tyr1152=) c.3411C>T (p.Tyr1137=) c.3402C>T (p.Tyr1134=) c.3378C>T (p.Tyr1126=) c.3372C>T (p.Tyr1124=) c.3345C>T (p.Tyr1115=) c.3339C>T (p.Tyr1113=) c.3333C>T (p.Tyr1111=) c.3294C>T (p.Tyr1098=) c.3282C>T (p.Tyr1094=) c.3225C>T (p.Tyr1075=) c.3201C>T (p.Tyr1067=) c.3195C>T (p.Tyr1065=) c.3177C>T (p.Tyr1059=) c.3123C>T (p.Tyr1041=) c.3118-173C>T (n.3118-173C>T) c.2430C>T (p.Tyr810=) c.2343C>T (p.Tyr781=) n.3619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727517G>A | CA8534532 | ERBB2 | c.3382G>A (p.Val1128Ile) c.3292G>A (p.Val1098Ile) c.2554G>A (p.Val852Ile) c.3337G>A (p.Val1113Ile) c.*3172G>A (n.*3172G>A) c.3160-172G>A (n.3160-172G>A) n.3706G>A c.3520G>A (p.Val1174Ile) c.3475G>A (p.Val1159Ile) c.3430G>A (p.Val1144Ile) c.3499G>A (p.Val1167Ile) c.3484G>A (p.Val1162Ile) c.3463G>A (p.Val1155Ile) c.3457G>A (p.Val1153Ile) c.3412G>A (p.Val1138Ile) c.3403G>A (p.Val1135Ile) c.3379G>A (p.Val1127Ile) c.3373G>A (p.Val1125Ile) c.3346G>A (p.Val1116Ile) c.3340G>A (p.Val1114Ile) c.3334G>A (p.Val1112Ile) c.3295G>A (p.Val1099Ile) c.3283G>A (p.Val1095Ile) c.3226G>A (p.Val1076Ile) c.3202G>A (p.Val1068Ile) c.3196G>A (p.Val1066Ile) c.3178G>A (p.Val1060Ile) c.3124G>A (p.Val1042Ile) c.3118-172G>A (n.3118-172G>A) c.2431G>A (p.Val811Ile) c.2344G>A (p.Val782Ile) n.3620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39727517G>C | CA399312742 | ERBB2 | c.3382G>C (p.Val1128Leu) c.3292G>C (p.Val1098Leu) c.2554G>C (p.Val852Leu) c.3337G>C (p.Val1113Leu) c.*3172G>C (n.*3172G>C) c.3160-172G>C (n.3160-172G>C) n.3706G>C c.3520G>C (p.Val1174Leu) c.3475G>C (p.Val1159Leu) c.3430G>C (p.Val1144Leu) c.3499G>C (p.Val1167Leu) c.3484G>C (p.Val1162Leu) c.3463G>C (p.Val1155Leu) c.3457G>C (p.Val1153Leu) c.3412G>C (p.Val1138Leu) c.3403G>C (p.Val1135Leu) c.3379G>C (p.Val1127Leu) c.3373G>C (p.Val1125Leu) c.3346G>C (p.Val1116Leu) c.3340G>C (p.Val1114Leu) c.3334G>C (p.Val1112Leu) c.3295G>C (p.Val1099Leu) c.3283G>C (p.Val1095Leu) c.3226G>C (p.Val1076Leu) c.3202G>C (p.Val1068Leu) c.3196G>C (p.Val1066Leu) c.3178G>C (p.Val1060Leu) c.3124G>C (p.Val1042Leu) c.3118-172G>C (n.3118-172G>C) c.2431G>C (p.Val811Leu) c.2344G>C (p.Val782Leu) n.3620G>C | dbSNP |
17 | g.39727517G= | CA2259229141 | ERBB2 | c.3382G= (p.Val1128=) c.3292G= (p.Val1098=) c.2554G= (p.Val852=) c.3337G= (p.Val1113=) c.*3172G= (n.*3172G=) c.3160-172G= (n.3160-172G=) n.3706G= c.3520G= (p.Val1174=) c.3475G= (p.Val1159=) c.3430G= (p.Val1144=) c.3499G= (p.Val1167=) c.3484G= (p.Val1162=) c.3463G= (p.Val1155=) c.3457G= (p.Val1153=) c.3412G= (p.Val1138=) c.3403G= (p.Val1135=) c.3379G= (p.Val1127=) c.3373G= (p.Val1125=) c.3346G= (p.Val1116=) c.3340G= (p.Val1114=) c.3334G= (p.Val1112=) c.3295G= (p.Val1099=) c.3283G= (p.Val1095=) c.3226G= (p.Val1076=) c.3202G= (p.Val1068=) c.3196G= (p.Val1066=) c.3178G= (p.Val1060=) c.3124G= (p.Val1042=) c.3118-172G= (n.3118-172G=) c.2431G= (p.Val811=) c.2344G= (p.Val782=) n.3620G= | |
17 | g.39727517G>T | CA399312743 | ERBB2 | c.3382G>T (p.Val1128Phe) c.3292G>T (p.Val1098Phe) c.2554G>T (p.Val852Phe) c.3337G>T (p.Val1113Phe) c.*3172G>T (n.*3172G>T) c.3160-172G>T (n.3160-172G>T) n.3706G>T c.3520G>T (p.Val1174Phe) c.3475G>T (p.Val1159Phe) c.3430G>T (p.Val1144Phe) c.3499G>T (p.Val1167Phe) c.3484G>T (p.Val1162Phe) c.3463G>T (p.Val1155Phe) c.3457G>T (p.Val1153Phe) c.3412G>T (p.Val1138Phe) c.3403G>T (p.Val1135Phe) c.3379G>T (p.Val1127Phe) c.3373G>T (p.Val1125Phe) c.3346G>T (p.Val1116Phe) c.3340G>T (p.Val1114Phe) c.3334G>T (p.Val1112Phe) c.3295G>T (p.Val1099Phe) c.3283G>T (p.Val1095Phe) c.3226G>T (p.Val1076Phe) c.3202G>T (p.Val1068Phe) c.3196G>T (p.Val1066Phe) c.3178G>T (p.Val1060Phe) c.3124G>T (p.Val1042Phe) c.3118-172G>T (n.3118-172G>T) c.2431G>T (p.Val811Phe) c.2344G>T (p.Val782Phe) n.3620G>T | dbSNP |
17 | g.39727518T>A | CA399312744 | ERBB2 | c.3383T>A (p.Val1128Asp) c.3293T>A (p.Val1098Asp) c.2555T>A (p.Val852Asp) c.3338T>A (p.Val1113Asp) c.*3173T>A (n.*3173T>A) c.3160-171T>A (n.3160-171T>A) n.3707T>A c.3521T>A (p.Val1174Asp) c.3476T>A (p.Val1159Asp) c.3431T>A (p.Val1144Asp) c.3500T>A (p.Val1167Asp) c.3485T>A (p.Val1162Asp) c.3464T>A (p.Val1155Asp) c.3458T>A (p.Val1153Asp) c.3413T>A (p.Val1138Asp) c.3404T>A (p.Val1135Asp) c.3380T>A (p.Val1127Asp) c.3374T>A (p.Val1125Asp) c.3347T>A (p.Val1116Asp) c.3341T>A (p.Val1114Asp) c.3335T>A (p.Val1112Asp) c.3296T>A (p.Val1099Asp) c.3284T>A (p.Val1095Asp) c.3227T>A (p.Val1076Asp) c.3203T>A (p.Val1068Asp) c.3197T>A (p.Val1066Asp) c.3179T>A (p.Val1060Asp) c.3125T>A (p.Val1042Asp) c.3118-171T>A (n.3118-171T>A) c.2432T>A (p.Val811Asp) c.2345T>A (p.Val782Asp) n.3621T>A | dbSNP |
17 | g.39727518T>C | CA399312745 | ERBB2 | c.3383T>C (p.Val1128Ala) c.3293T>C (p.Val1098Ala) c.2555T>C (p.Val852Ala) c.3338T>C (p.Val1113Ala) c.*3173T>C (n.*3173T>C) c.3160-171T>C (n.3160-171T>C) n.3707T>C c.3521T>C (p.Val1174Ala) c.3476T>C (p.Val1159Ala) c.3431T>C (p.Val1144Ala) c.3500T>C (p.Val1167Ala) c.3485T>C (p.Val1162Ala) c.3464T>C (p.Val1155Ala) c.3458T>C (p.Val1153Ala) c.3413T>C (p.Val1138Ala) c.3404T>C (p.Val1135Ala) c.3380T>C (p.Val1127Ala) c.3374T>C (p.Val1125Ala) c.3347T>C (p.Val1116Ala) c.3341T>C (p.Val1114Ala) c.3335T>C (p.Val1112Ala) c.3296T>C (p.Val1099Ala) c.3284T>C (p.Val1095Ala) c.3227T>C (p.Val1076Ala) c.3203T>C (p.Val1068Ala) c.3197T>C (p.Val1066Ala) c.3179T>C (p.Val1060Ala) c.3125T>C (p.Val1042Ala) c.3118-171T>C (n.3118-171T>C) c.2432T>C (p.Val811Ala) c.2345T>C (p.Val782Ala) n.3621T>C | dbSNP |
17 | g.39727518T>G | CA399312746 | ERBB2 | c.3383T>G (p.Val1128Gly) c.3293T>G (p.Val1098Gly) c.2555T>G (p.Val852Gly) c.3338T>G (p.Val1113Gly) c.*3173T>G (n.*3173T>G) c.3160-171T>G (n.3160-171T>G) n.3707T>G c.3521T>G (p.Val1174Gly) c.3476T>G (p.Val1159Gly) c.3431T>G (p.Val1144Gly) c.3500T>G (p.Val1167Gly) c.3485T>G (p.Val1162Gly) c.3464T>G (p.Val1155Gly) c.3458T>G (p.Val1153Gly) c.3413T>G (p.Val1138Gly) c.3404T>G (p.Val1135Gly) c.3380T>G (p.Val1127Gly) c.3374T>G (p.Val1125Gly) c.3347T>G (p.Val1116Gly) c.3341T>G (p.Val1114Gly) c.3335T>G (p.Val1112Gly) c.3296T>G (p.Val1099Gly) c.3284T>G (p.Val1095Gly) c.3227T>G (p.Val1076Gly) c.3203T>G (p.Val1068Gly) c.3197T>G (p.Val1066Gly) c.3179T>G (p.Val1060Gly) c.3125T>G (p.Val1042Gly) c.3118-171T>G (n.3118-171T>G) c.2432T>G (p.Val811Gly) c.2345T>G (p.Val782Gly) n.3621T>G | dbSNP |
17 | g.39727519T>A | CA499890282 | ERBB2 | c.3384T>A (p.Val1128=) c.3294T>A (p.Val1098=) c.2556T>A (p.Val852=) c.3339T>A (p.Val1113=) c.*3174T>A (n.*3174T>A) c.3160-170T>A (n.3160-170T>A) n.3708T>A c.3522T>A (p.Val1174=) c.3477T>A (p.Val1159=) c.3432T>A (p.Val1144=) c.3501T>A (p.Val1167=) c.3486T>A (p.Val1162=) c.3465T>A (p.Val1155=) c.3459T>A (p.Val1153=) c.3414T>A (p.Val1138=) c.3405T>A (p.Val1135=) c.3381T>A (p.Val1127=) c.3375T>A (p.Val1125=) c.3348T>A (p.Val1116=) c.3342T>A (p.Val1114=) c.3336T>A (p.Val1112=) c.3297T>A (p.Val1099=) c.3285T>A (p.Val1095=) c.3228T>A (p.Val1076=) c.3204T>A (p.Val1068=) c.3198T>A (p.Val1066=) c.3180T>A (p.Val1060=) c.3126T>A (p.Val1042=) c.3118-170T>A (n.3118-170T>A) c.2433T>A (p.Val811=) c.2346T>A (p.Val782=) n.3622T>A | |
17 | g.39727519T>C | CA499890283 | ERBB2 | c.3384T>C (p.Val1128=) c.3294T>C (p.Val1098=) c.2556T>C (p.Val852=) c.3339T>C (p.Val1113=) c.*3174T>C (n.*3174T>C) c.3160-170T>C (n.3160-170T>C) n.3708T>C c.3522T>C (p.Val1174=) c.3477T>C (p.Val1159=) c.3432T>C (p.Val1144=) c.3501T>C (p.Val1167=) c.3486T>C (p.Val1162=) c.3465T>C (p.Val1155=) c.3459T>C (p.Val1153=) c.3414T>C (p.Val1138=) c.3405T>C (p.Val1135=) c.3381T>C (p.Val1127=) c.3375T>C (p.Val1125=) c.3348T>C (p.Val1116=) c.3342T>C (p.Val1114=) c.3336T>C (p.Val1112=) c.3297T>C (p.Val1099=) c.3285T>C (p.Val1095=) c.3228T>C (p.Val1076=) c.3204T>C (p.Val1068=) c.3198T>C (p.Val1066=) c.3180T>C (p.Val1060=) c.3126T>C (p.Val1042=) c.3118-170T>C (n.3118-170T>C) c.2433T>C (p.Val811=) c.2346T>C (p.Val782=) n.3622T>C | |
17 | g.39727519T>G | CA499890284 | ERBB2 | c.3384T>G (p.Val1128=) c.3294T>G (p.Val1098=) c.2556T>G (p.Val852=) c.3339T>G (p.Val1113=) c.*3174T>G (n.*3174T>G) c.3160-170T>G (n.3160-170T>G) n.3708T>G c.3522T>G (p.Val1174=) c.3477T>G (p.Val1159=) c.3432T>G (p.Val1144=) c.3501T>G (p.Val1167=) c.3486T>G (p.Val1162=) c.3465T>G (p.Val1155=) c.3459T>G (p.Val1153=) c.3414T>G (p.Val1138=) c.3405T>G (p.Val1135=) c.3381T>G (p.Val1127=) c.3375T>G (p.Val1125=) c.3348T>G (p.Val1116=) c.3342T>G (p.Val1114=) c.3336T>G (p.Val1112=) c.3297T>G (p.Val1099=) c.3285T>G (p.Val1095=) c.3228T>G (p.Val1076=) c.3204T>G (p.Val1068=) c.3198T>G (p.Val1066=) c.3180T>G (p.Val1060=) c.3126T>G (p.Val1042=) c.3118-170T>G (n.3118-170T>G) c.2433T>G (p.Val811=) c.2346T>G (p.Val782=) n.3622T>G | |
17 | g.39727520G>A | CA399312747 | ERBB2 | c.3385G>A (p.Ala1129Thr) c.3295G>A (p.Ala1099Thr) c.2557G>A (p.Ala853Thr) c.3340G>A (p.Ala1114Thr) c.*3175G>A (n.*3175G>A) c.3160-169G>A (n.3160-169G>A) n.3709G>A c.3523G>A (p.Ala1175Thr) c.3478G>A (p.Ala1160Thr) c.3433G>A (p.Ala1145Thr) c.3502G>A (p.Ala1168Thr) c.3487G>A (p.Ala1163Thr) c.3466G>A (p.Ala1156Thr) c.3460G>A (p.Ala1154Thr) c.3415G>A (p.Ala1139Thr) c.3406G>A (p.Ala1136Thr) c.3382G>A (p.Ala1128Thr) c.3376G>A (p.Ala1126Thr) c.3349G>A (p.Ala1117Thr) c.3343G>A (p.Ala1115Thr) c.3337G>A (p.Ala1113Thr) c.3298G>A (p.Ala1100Thr) c.3286G>A (p.Ala1096Thr) c.3229G>A (p.Ala1077Thr) c.3205G>A (p.Ala1069Thr) c.3199G>A (p.Ala1067Thr) c.3181G>A (p.Ala1061Thr) c.3127G>A (p.Ala1043Thr) c.3118-169G>A (n.3118-169G>A) c.2434G>A (p.Ala812Thr) c.2347G>A (p.Ala783Thr) n.3623G>A | gnomAD v4 |
17 | g.39727520G>C | CA290443497 | ERBB2 | c.3385G>C (p.Ala1129Pro) c.3295G>C (p.Ala1099Pro) c.2557G>C (p.Ala853Pro) c.3340G>C (p.Ala1114Pro) c.*3175G>C (n.*3175G>C) c.3160-169G>C (n.3160-169G>C) n.3709G>C c.3523G>C (p.Ala1175Pro) c.3478G>C (p.Ala1160Pro) c.3433G>C (p.Ala1145Pro) c.3502G>C (p.Ala1168Pro) c.3487G>C (p.Ala1163Pro) c.3466G>C (p.Ala1156Pro) c.3460G>C (p.Ala1154Pro) c.3415G>C (p.Ala1139Pro) c.3406G>C (p.Ala1136Pro) c.3382G>C (p.Ala1128Pro) c.3376G>C (p.Ala1126Pro) c.3349G>C (p.Ala1117Pro) c.3343G>C (p.Ala1115Pro) c.3337G>C (p.Ala1113Pro) c.3298G>C (p.Ala1100Pro) c.3286G>C (p.Ala1096Pro) c.3229G>C (p.Ala1077Pro) c.3205G>C (p.Ala1069Pro) c.3199G>C (p.Ala1067Pro) c.3181G>C (p.Ala1061Pro) c.3127G>C (p.Ala1043Pro) c.3118-169G>C (n.3118-169G>C) c.2434G>C (p.Ala812Pro) c.2347G>C (p.Ala783Pro) n.3623G>C | dbSNP |
17 | g.39727520G= | CA2259229142 | ERBB2 | c.3385G= (p.Ala1129=) c.3295G= (p.Ala1099=) c.2557G= (p.Ala853=) c.3340G= (p.Ala1114=) c.*3175G= (n.*3175G=) c.3160-169G= (n.3160-169G=) n.3709G= c.3523G= (p.Ala1175=) c.3478G= (p.Ala1160=) c.3433G= (p.Ala1145=) c.3502G= (p.Ala1168=) c.3487G= (p.Ala1163=) c.3466G= (p.Ala1156=) c.3460G= (p.Ala1154=) c.3415G= (p.Ala1139=) c.3406G= (p.Ala1136=) c.3382G= (p.Ala1128=) c.3376G= (p.Ala1126=) c.3349G= (p.Ala1117=) c.3343G= (p.Ala1115=) c.3337G= (p.Ala1113=) c.3298G= (p.Ala1100=) c.3286G= (p.Ala1096=) c.3229G= (p.Ala1077=) c.3205G= (p.Ala1069=) c.3199G= (p.Ala1067=) c.3181G= (p.Ala1061=) c.3127G= (p.Ala1043=) c.3118-169G= (n.3118-169G=) c.2434G= (p.Ala812=) c.2347G= (p.Ala783=) n.3623G= | |
17 | g.39727520G>T | CA399312748 | ERBB2 | c.3385G>T (p.Ala1129Ser) c.3295G>T (p.Ala1099Ser) c.2557G>T (p.Ala853Ser) c.3340G>T (p.Ala1114Ser) c.*3175G>T (n.*3175G>T) c.3160-169G>T (n.3160-169G>T) n.3709G>T c.3523G>T (p.Ala1175Ser) c.3478G>T (p.Ala1160Ser) c.3433G>T (p.Ala1145Ser) c.3502G>T (p.Ala1168Ser) c.3487G>T (p.Ala1163Ser) c.3466G>T (p.Ala1156Ser) c.3460G>T (p.Ala1154Ser) c.3415G>T (p.Ala1139Ser) c.3406G>T (p.Ala1136Ser) c.3382G>T (p.Ala1128Ser) c.3376G>T (p.Ala1126Ser) c.3349G>T (p.Ala1117Ser) c.3343G>T (p.Ala1115Ser) c.3337G>T (p.Ala1113Ser) c.3298G>T (p.Ala1100Ser) c.3286G>T (p.Ala1096Ser) c.3229G>T (p.Ala1077Ser) c.3205G>T (p.Ala1069Ser) c.3199G>T (p.Ala1067Ser) c.3181G>T (p.Ala1061Ser) c.3127G>T (p.Ala1043Ser) c.3118-169G>T (n.3118-169G>T) c.2434G>T (p.Ala812Ser) c.2347G>T (p.Ala783Ser) n.3623G>T | |
17 | g.39727520_39727521delinsGC | CA2259229143 | ERBB2 | c.3385_3386delinsGC (p.Ala1129=) c.3295_3296delinsGC (p.Ala1099=) c.2557_2558delinsGC (p.Ala853=) c.3340_3341delinsGC (p.Ala1114=) c.*3175_*3176delinsGC (n.*3175_*3176delinsGC) c.3160-169_3160-168delinsGC (n.3160-169_3160-168delinsGC) n.3709_3710delinsGC c.3523_3524delinsGC (p.Ala1175=) c.3478_3479delinsGC (p.Ala1160=) c.3433_3434delinsGC (p.Ala1145=) c.3502_3503delinsGC (p.Ala1168=) c.3487_3488delinsGC (p.Ala1163=) c.3466_3467delinsGC (p.Ala1156=) c.3460_3461delinsGC (p.Ala1154=) c.3415_3416delinsGC (p.Ala1139=) c.3406_3407delinsGC (p.Ala1136=) c.3382_3383delinsGC (p.Ala1128=) c.3376_3377delinsGC (p.Ala1126=) c.3349_3350delinsGC (p.Ala1117=) c.3343_3344delinsGC (p.Ala1115=) c.3337_3338delinsGC (p.Ala1113=) c.3298_3299delinsGC (p.Ala1100=) c.3286_3287delinsGC (p.Ala1096=) c.3229_3230delinsGC (p.Ala1077=) c.3205_3206delinsGC (p.Ala1069=) c.3199_3200delinsGC (p.Ala1067=) c.3181_3182delinsGC (p.Ala1061=) c.3127_3128delinsGC (p.Ala1043=) c.3118-169_3118-168delinsGC (n.3118-169_3118-168delinsGC) c.2434_2435delinsGC (p.Ala812=) c.2347_2348delinsGC (p.Ala783=) n.3623_3624delinsGC |