Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389901T>ACA429445433ZEB2c.*3044A>T (n.*3044A>T)
c.2418A>T (p.Ser806=)
c.3195A>T (p.Ser1065=)
n.3164A>T
c.2859A>T (p.Ser953=)
c.3270A>T (p.Ser1090=)
c.*2912A>T (n.*2912A>T)
n.3295A>T
c.151+6511A>T (n.151+6511A>T)
c.415A>T (n.415A>T)
c.726A>T (p.Ser242=)
c.3192A>T (p.Ser1064=)
c.656-1019A>T (n.656-1019A>T)
c.3123A>T (p.Ser1041=)
c.3186A>T (p.Ser1062=)
c.3174A>T (p.Ser1058=)
2g.144389901T>CCA429445434ZEB2c.*3044A>G (n.*3044A>G)
c.2418A>G (p.Ser806=)
c.3195A>G (p.Ser1065=)
n.3164A>G
c.2859A>G (p.Ser953=)
c.3270A>G (p.Ser1090=)
c.*2912A>G (n.*2912A>G)
n.3295A>G
c.151+6511A>G (n.151+6511A>G)
c.415A>G (n.415A>G)
c.726A>G (p.Ser242=)
c.3192A>G (p.Ser1064=)
c.656-1019A>G (n.656-1019A>G)
c.3123A>G (p.Ser1041=)
c.3186A>G (p.Ser1062=)
c.3174A>G (p.Ser1058=)
2g.144389901T>GCA429445435ZEB2c.*3044A>C (n.*3044A>C)
c.2418A>C (p.Ser806=)
c.3195A>C (p.Ser1065=)
n.3164A>C
c.2859A>C (p.Ser953=)
c.3270A>C (p.Ser1090=)
c.*2912A>C (n.*2912A>C)
n.3295A>C
c.151+6511A>C (n.151+6511A>C)
c.415A>C (n.415A>C)
c.726A>C (p.Ser242=)
c.3192A>C (p.Ser1064=)
c.656-1019A>C (n.656-1019A>C)
c.3123A>C (p.Ser1041=)
c.3186A>C (p.Ser1062=)
c.3174A>C (p.Ser1058=)
2g.144389901dupCA297633ZEB2c.*3044dup (n.*3044dup)
c.2418dup (p.His807ThrfsTer?)
c.3195dup (p.His1066ThrfsTer?)
n.3164dup
c.2859dup (p.His954ThrfsTer?)
c.3270dup (p.His1091ThrfsTer?)
c.*2912dup (n.*2912dup)
n.3295dup
c.151+6511dup (n.151+6511dup)
c.415dup (n.415dup)
c.726dup (p.His243ThrfsTer?)
c.3192dup (p.His1065ThrfsTer?)
c.656-1019dup (n.656-1019dup)
c.3123dup (p.His1042ThrfsTer?)
c.3186dup (p.His1063ThrfsTer?)
c.3174dup (p.His1059ThrfsTer?)
 ClinVar dbSNP
2g.144389902G>ACA348700441ZEB2c.*3043C>T (n.*3043C>T)
c.2417C>T (p.Ser806Leu)
c.3194C>T (p.Ser1065Leu)
n.3163C>T
c.2858C>T (p.Ser953Leu)
c.3269C>T (p.Ser1090Leu)
c.*2911C>T (n.*2911C>T)
n.3294C>T
c.151+6510C>T (n.151+6510C>T)
c.414C>T (n.414C>T)
c.725C>T (p.Ser242Leu)
c.3191C>T (p.Ser1064Leu)
c.656-1020C>T (n.656-1020C>T)
c.3122C>T (p.Ser1041Leu)
c.3185C>T (p.Ser1062Leu)
c.3173C>T (p.Ser1058Leu)
2g.144389902G>CCA348700442ZEB2c.*3043C>G (n.*3043C>G)
c.2417C>G (p.Ser806Ter)
c.3194C>G (p.Ser1065Ter)
n.3163C>G
c.2858C>G (p.Ser953Ter)
c.3269C>G (p.Ser1090Ter)
c.*2911C>G (n.*2911C>G)
n.3294C>G
c.151+6510C>G (n.151+6510C>G)
c.414C>G (n.414C>G)
c.725C>G (p.Ser242Ter)
c.3191C>G (p.Ser1064Ter)
c.656-1020C>G (n.656-1020C>G)
c.3122C>G (p.Ser1041Ter)
c.3185C>G (p.Ser1062Ter)
c.3173C>G (p.Ser1058Ter)
2g.144389902G>TCA348700453ZEB2c.*3043C>A (n.*3043C>A)
c.2417C>A (p.Ser806Ter)
c.3194C>A (p.Ser1065Ter)
n.3163C>A
c.2858C>A (p.Ser953Ter)
c.3269C>A (p.Ser1090Ter)
c.*2911C>A (n.*2911C>A)
n.3294C>A
c.151+6510C>A (n.151+6510C>A)
c.414C>A (n.414C>A)
c.725C>A (p.Ser242Ter)
c.3191C>A (p.Ser1064Ter)
c.656-1020C>A (n.656-1020C>A)
c.3122C>A (p.Ser1041Ter)
c.3185C>A (p.Ser1062Ter)
c.3173C>A (p.Ser1058Ter)
2g.144389903A>CCA348700458ZEB2c.*3042T>G (n.*3042T>G)
c.2416T>G (p.Ser806Ala)
c.3193T>G (p.Ser1065Ala)
n.3162T>G
c.2857T>G (p.Ser953Ala)
c.3268T>G (p.Ser1090Ala)
c.*2910T>G (n.*2910T>G)
n.3293T>G
c.151+6509T>G (n.151+6509T>G)
c.413T>G (n.413T>G)
c.724T>G (p.Ser242Ala)
c.3190T>G (p.Ser1064Ala)
c.656-1021T>G (n.656-1021T>G)
c.3121T>G (p.Ser1041Ala)
c.3184T>G (p.Ser1062Ala)
c.3172T>G (p.Ser1058Ala)
2g.144389903A>GCA348700461ZEB2c.*3042T>C (n.*3042T>C)
c.2416T>C (p.Ser806Pro)
c.3193T>C (p.Ser1065Pro)
n.3162T>C
c.2857T>C (p.Ser953Pro)
c.3268T>C (p.Ser1090Pro)
c.*2910T>C (n.*2910T>C)
n.3293T>C
c.151+6509T>C (n.151+6509T>C)
c.413T>C (n.413T>C)
c.724T>C (p.Ser242Pro)
c.3190T>C (p.Ser1064Pro)
c.656-1021T>C (n.656-1021T>C)
c.3121T>C (p.Ser1041Pro)
c.3184T>C (p.Ser1062Pro)
c.3172T>C (p.Ser1058Pro)
2g.144389903A>TCA348700463ZEB2c.*3042T>A (n.*3042T>A)
c.2416T>A (p.Ser806Thr)
c.3193T>A (p.Ser1065Thr)
n.3162T>A
c.2857T>A (p.Ser953Thr)
c.3268T>A (p.Ser1090Thr)
c.*2910T>A (n.*2910T>A)
n.3293T>A
c.151+6509T>A (n.151+6509T>A)
c.413T>A (n.413T>A)
c.724T>A (p.Ser242Thr)
c.3190T>A (p.Ser1064Thr)
c.656-1021T>A (n.656-1021T>A)
c.3121T>A (p.Ser1041Thr)
c.3184T>A (p.Ser1062Thr)
c.3172T>A (p.Ser1058Thr)
2g.144389904G>ACA429445439ZEB2c.*3041C>T (n.*3041C>T)
c.2415C>T (p.Phe805=)
c.3192C>T (p.Phe1064=)
n.3161C>T
c.2856C>T (p.Phe952=)
c.3267C>T (p.Phe1089=)
c.*2909C>T (n.*2909C>T)
n.3292C>T
c.151+6508C>T (n.151+6508C>T)
c.412C>T (n.412C>T)
c.723C>T (p.Phe241=)
c.3189C>T (p.Phe1063=)
c.656-1022C>T (n.656-1022C>T)
c.3120C>T (p.Phe1040=)
c.3183C>T (p.Phe1061=)
c.3171C>T (p.Phe1057=)
2g.144389904G>CCA348700467ZEB2c.*3041C>G (n.*3041C>G)
c.2415C>G (p.Phe805Leu)
c.3192C>G (p.Phe1064Leu)
n.3161C>G
c.2856C>G (p.Phe952Leu)
c.3267C>G (p.Phe1089Leu)
c.*2909C>G (n.*2909C>G)
n.3292C>G
c.151+6508C>G (n.151+6508C>G)
c.412C>G (n.412C>G)
c.723C>G (p.Phe241Leu)
c.3189C>G (p.Phe1063Leu)
c.656-1022C>G (n.656-1022C>G)
c.3120C>G (p.Phe1040Leu)
c.3183C>G (p.Phe1061Leu)
c.3171C>G (p.Phe1057Leu)
2g.144389904G>TCA348700470ZEB2c.*3041C>A (n.*3041C>A)
c.2415C>A (p.Phe805Leu)
c.3192C>A (p.Phe1064Leu)
n.3161C>A
c.2856C>A (p.Phe952Leu)
c.3267C>A (p.Phe1089Leu)
c.*2909C>A (n.*2909C>A)
n.3292C>A
c.151+6508C>A (n.151+6508C>A)
c.412C>A (n.412C>A)
c.723C>A (p.Phe241Leu)
c.3189C>A (p.Phe1063Leu)
c.656-1022C>A (n.656-1022C>A)
c.3120C>A (p.Phe1040Leu)
c.3183C>A (p.Phe1061Leu)
c.3171C>A (p.Phe1057Leu)
2g.144389905A>CCA348700474ZEB2c.*3040T>G (n.*3040T>G)
c.2414T>G (p.Phe805Cys)
c.3191T>G (p.Phe1064Cys)
n.3160T>G
c.2855T>G (p.Phe952Cys)
c.3266T>G (p.Phe1089Cys)
c.*2908T>G (n.*2908T>G)
n.3291T>G
c.151+6507T>G (n.151+6507T>G)
c.411T>G (n.411T>G)
c.722T>G (p.Phe241Cys)
c.3188T>G (p.Phe1063Cys)
c.656-1023T>G (n.656-1023T>G)
c.3119T>G (p.Phe1040Cys)
c.3182T>G (p.Phe1061Cys)
c.3170T>G (p.Phe1057Cys)
2g.144389905A>GCA348700476ZEB2c.*3040T>C (n.*3040T>C)
c.2414T>C (p.Phe805Ser)
c.3191T>C (p.Phe1064Ser)
n.3160T>C
c.2855T>C (p.Phe952Ser)
c.3266T>C (p.Phe1089Ser)
c.*2908T>C (n.*2908T>C)
n.3291T>C
c.151+6507T>C (n.151+6507T>C)
c.411T>C (n.411T>C)
c.722T>C (p.Phe241Ser)
c.3188T>C (p.Phe1063Ser)
c.656-1023T>C (n.656-1023T>C)
c.3119T>C (p.Phe1040Ser)
c.3182T>C (p.Phe1061Ser)
c.3170T>C (p.Phe1057Ser)
2g.144389905A>TCA348700479ZEB2c.*3040T>A (n.*3040T>A)
c.2414T>A (p.Phe805Tyr)
c.3191T>A (p.Phe1064Tyr)
n.3160T>A
c.2855T>A (p.Phe952Tyr)
c.3266T>A (p.Phe1089Tyr)
c.*2908T>A (n.*2908T>A)
n.3291T>A
c.151+6507T>A (n.151+6507T>A)
c.411T>A (n.411T>A)
c.722T>A (p.Phe241Tyr)
c.3188T>A (p.Phe1063Tyr)
c.656-1023T>A (n.656-1023T>A)
c.3119T>A (p.Phe1040Tyr)
c.3182T>A (p.Phe1061Tyr)
c.3170T>A (p.Phe1057Tyr)
2g.144389906A>CCA348700495ZEB2c.*3039T>G (n.*3039T>G)
c.2413T>G (p.Phe805Val)
c.3190T>G (p.Phe1064Val)
n.3159T>G
c.2854T>G (p.Phe952Val)
c.3265T>G (p.Phe1089Val)
c.*2907T>G (n.*2907T>G)
n.3290T>G
c.151+6506T>G (n.151+6506T>G)
c.410T>G (n.410T>G)
c.721T>G (p.Phe241Val)
c.3187T>G (p.Phe1063Val)
c.656-1024T>G (n.656-1024T>G)
c.3118T>G (p.Phe1040Val)
c.3181T>G (p.Phe1061Val)
c.3169T>G (p.Phe1057Val)
2g.144389906A>GCA348700491ZEB2c.*3039T>C (n.*3039T>C)
c.2413T>C (p.Phe805Leu)
c.3190T>C (p.Phe1064Leu)
n.3159T>C
c.2854T>C (p.Phe952Leu)
c.3265T>C (p.Phe1089Leu)
c.*2907T>C (n.*2907T>C)
n.3290T>C
c.151+6506T>C (n.151+6506T>C)
c.410T>C (n.410T>C)
c.721T>C (p.Phe241Leu)
c.3187T>C (p.Phe1063Leu)
c.656-1024T>C (n.656-1024T>C)
c.3118T>C (p.Phe1040Leu)
c.3181T>C (p.Phe1061Leu)
c.3169T>C (p.Phe1057Leu)
2g.144389906A>TCA348700492ZEB2c.*3039T>A (n.*3039T>A)
c.2413T>A (p.Phe805Ile)
c.3190T>A (p.Phe1064Ile)
n.3159T>A
c.2854T>A (p.Phe952Ile)
c.3265T>A (p.Phe1089Ile)
c.*2907T>A (n.*2907T>A)
n.3290T>A
c.151+6506T>A (n.151+6506T>A)
c.410T>A (n.410T>A)
c.721T>A (p.Phe241Ile)
c.3187T>A (p.Phe1063Ile)
c.656-1024T>A (n.656-1024T>A)
c.3118T>A (p.Phe1040Ile)
c.3181T>A (p.Phe1061Ile)
c.3169T>A (p.Phe1057Ile)
2g.144389907G>ACA429445444ZEB2c.*3038C>T (n.*3038C>T)
c.2412C>T (p.Arg804=)
c.3189C>T (p.Arg1063=)
n.3158C>T
c.2853C>T (p.Arg951=)
c.3264C>T (p.Arg1088=)
c.*2906C>T (n.*2906C>T)
n.3289C>T
c.151+6505C>T (n.151+6505C>T)
c.409C>T (n.409C>T)
c.720C>T (p.Arg240=)
c.3186C>T (p.Arg1062=)
c.656-1025C>T (n.656-1025C>T)
c.3117C>T (p.Arg1039=)
c.3180C>T (p.Arg1060=)
c.3168C>T (p.Arg1056=)
2g.144389907G>CCA429445445ZEB2c.*3038C>G (n.*3038C>G)
c.2412C>G (p.Arg804=)
c.3189C>G (p.Arg1063=)
n.3158C>G
c.2853C>G (p.Arg951=)
c.3264C>G (p.Arg1088=)
c.*2906C>G (n.*2906C>G)
n.3289C>G
c.151+6505C>G (n.151+6505C>G)
c.409C>G (n.409C>G)
c.720C>G (p.Arg240=)
c.3186C>G (p.Arg1062=)
c.656-1025C>G (n.656-1025C>G)
c.3117C>G (p.Arg1039=)
c.3180C>G (p.Arg1060=)
c.3168C>G (p.Arg1056=)
2g.144389907G>TCA429445446ZEB2c.*3038C>A (n.*3038C>A)
c.2412C>A (p.Arg804=)
c.3189C>A (p.Arg1063=)
n.3158C>A
c.2853C>A (p.Arg951=)
c.3264C>A (p.Arg1088=)
c.*2906C>A (n.*2906C>A)
n.3289C>A
c.151+6505C>A (n.151+6505C>A)
c.409C>A (n.409C>A)
c.720C>A (p.Arg240=)
c.3186C>A (p.Arg1062=)
c.656-1025C>A (n.656-1025C>A)
c.3117C>A (p.Arg1039=)
c.3180C>A (p.Arg1060=)
c.3168C>A (p.Arg1056=)
2g.144389908C>ACA348700500ZEB2c.*3037G>T (n.*3037G>T)
c.2411G>T (p.Arg804Leu)
c.3188G>T (p.Arg1063Leu)
n.3157G>T
c.2852G>T (p.Arg951Leu)
c.3263G>T (p.Arg1088Leu)
c.*2905G>T (n.*2905G>T)
n.3288G>T
c.151+6504G>T (n.151+6504G>T)
c.408G>T (n.408G>T)
c.719G>T (p.Arg240Leu)
c.3185G>T (p.Arg1062Leu)
c.656-1026G>T (n.656-1026G>T)
c.3116G>T (p.Arg1039Leu)
c.3179G>T (p.Arg1060Leu)
c.3167G>T (p.Arg1056Leu)
2g.144389908C>GCA348700502ZEB2c.*3037G>C (n.*3037G>C)
c.2411G>C (p.Arg804Pro)
c.3188G>C (p.Arg1063Pro)
n.3157G>C
c.2852G>C (p.Arg951Pro)
c.3263G>C (p.Arg1088Pro)
c.*2905G>C (n.*2905G>C)
n.3288G>C
c.151+6504G>C (n.151+6504G>C)
c.408G>C (n.408G>C)
c.719G>C (p.Arg240Pro)
c.3185G>C (p.Arg1062Pro)
c.656-1026G>C (n.656-1026G>C)
c.3116G>C (p.Arg1039Pro)
c.3179G>C (p.Arg1060Pro)
c.3167G>C (p.Arg1056Pro)
2g.144389908C>TCA348700508ZEB2c.*3037G>A (n.*3037G>A)
c.2411G>A (p.Arg804His)
c.3188G>A (p.Arg1063His)
n.3157G>A
c.2852G>A (p.Arg951His)
c.3263G>A (p.Arg1088His)
c.*2905G>A (n.*2905G>A)
n.3288G>A
c.151+6504G>A (n.151+6504G>A)
c.408G>A (n.408G>A)
c.719G>A (p.Arg240His)
c.3185G>A (p.Arg1062His)
c.656-1026G>A (n.656-1026G>A)
c.3116G>A (p.Arg1039His)
c.3179G>A (p.Arg1060His)
c.3167G>A (p.Arg1056His)
 ClinVar
2g.144389909G>ACA348700514ZEB2c.*3036C>T (n.*3036C>T)
c.2410C>T (p.Arg804Cys)
c.3187C>T (p.Arg1063Cys)
n.3156C>T
c.2851C>T (p.Arg951Cys)
c.3262C>T (p.Arg1088Cys)
c.*2904C>T (n.*2904C>T)
n.3287C>T
c.151+6503C>T (n.151+6503C>T)
c.407C>T (n.407C>T)
c.718C>T (p.Arg240Cys)
c.3184C>T (p.Arg1062Cys)
c.656-1027C>T (n.656-1027C>T)
c.3115C>T (p.Arg1039Cys)
c.3178C>T (p.Arg1060Cys)
c.3166C>T (p.Arg1056Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.144389909G>CCA348700517ZEB2c.*3036C>G (n.*3036C>G)
c.2410C>G (p.Arg804Gly)
c.3187C>G (p.Arg1063Gly)
n.3156C>G
c.2851C>G (p.Arg951Gly)
c.3262C>G (p.Arg1088Gly)
c.*2904C>G (n.*2904C>G)
n.3287C>G
c.151+6503C>G (n.151+6503C>G)
c.407C>G (n.407C>G)
c.718C>G (p.Arg240Gly)
c.3184C>G (p.Arg1062Gly)
c.656-1027C>G (n.656-1027C>G)
c.3115C>G (p.Arg1039Gly)
c.3178C>G (p.Arg1060Gly)
c.3166C>G (p.Arg1056Gly)
2g.144389909G=CA1294881383ZEB2c.*3036C= (n.*3036C=)
c.2410C= (p.Arg804=)
c.3187C= (p.Arg1063=)
n.3156C=
c.2851C= (p.Arg951=)
c.3262C= (p.Arg1088=)
c.*2904C= (n.*2904C=)
n.3287C=
c.151+6503C= (n.151+6503C=)
c.407C= (n.407C=)
c.718C= (p.Arg240=)
c.3184C= (p.Arg1062=)
c.656-1027C= (n.656-1027C=)
c.3115C= (p.Arg1039=)
c.3178C= (p.Arg1060=)
c.3166C= (p.Arg1056=)
2g.144389909G>TCA348700521ZEB2c.*3036C>A (n.*3036C>A)
c.2410C>A (p.Arg804Ser)
c.3187C>A (p.Arg1063Ser)
n.3156C>A
c.2851C>A (p.Arg951Ser)
c.3262C>A (p.Arg1088Ser)
c.*2904C>A (n.*2904C>A)
n.3287C>A
c.151+6503C>A (n.151+6503C>A)
c.407C>A (n.407C>A)
c.718C>A (p.Arg240Ser)
c.3184C>A (p.Arg1062Ser)
c.656-1027C>A (n.656-1027C>A)
c.3115C>A (p.Arg1039Ser)
c.3178C>A (p.Arg1060Ser)
c.3166C>A (p.Arg1056Ser)
2g.144389910C>ACA348700526ZEB2c.*3035G>T (n.*3035G>T)
c.2409G>T (p.Lys803Asn)
c.3186G>T (p.Lys1062Asn)
n.3155G>T
c.2850G>T (p.Lys950Asn)
c.3261G>T (p.Lys1087Asn)
c.*2903G>T (n.*2903G>T)
n.3286G>T
c.151+6502G>T (n.151+6502G>T)
c.406G>T (n.406G>T)
c.717G>T (p.Lys239Asn)
c.3183G>T (p.Lys1061Asn)
c.656-1028G>T (n.656-1028G>T)
c.3114G>T (p.Lys1038Asn)
c.3177G>T (p.Lys1059Asn)
c.3165G>T (p.Lys1055Asn)
2g.144389910C>GCA348700543ZEB2c.*3035G>C (n.*3035G>C)
c.2409G>C (p.Lys803Asn)
c.3186G>C (p.Lys1062Asn)
n.3155G>C
c.2850G>C (p.Lys950Asn)
c.3261G>C (p.Lys1087Asn)
c.*2903G>C (n.*2903G>C)
n.3286G>C
c.151+6502G>C (n.151+6502G>C)
c.406G>C (n.406G>C)
c.717G>C (p.Lys239Asn)
c.3183G>C (p.Lys1061Asn)
c.656-1028G>C (n.656-1028G>C)
c.3114G>C (p.Lys1038Asn)
c.3177G>C (p.Lys1059Asn)
c.3165G>C (p.Lys1055Asn)
2g.144389910C>TCA429445450ZEB2c.*3035G>A (n.*3035G>A)
c.2409G>A (p.Lys803=)
c.3186G>A (p.Lys1062=)
n.3155G>A
c.2850G>A (p.Lys950=)
c.3261G>A (p.Lys1087=)
c.*2903G>A (n.*2903G>A)
n.3286G>A
c.151+6502G>A (n.151+6502G>A)
c.406G>A (n.406G>A)
c.717G>A (p.Lys239=)
c.3183G>A (p.Lys1061=)
c.656-1028G>A (n.656-1028G>A)
c.3114G>A (p.Lys1038=)
c.3177G>A (p.Lys1059=)
c.3165G>A (p.Lys1055=)
2g.144389911T>ACA348700549ZEB2c.*3034A>T (n.*3034A>T)
c.2408A>T (p.Lys803Met)
c.3185A>T (p.Lys1062Met)
n.3154A>T
c.2849A>T (p.Lys950Met)
c.3260A>T (p.Lys1087Met)
c.*2902A>T (n.*2902A>T)
n.3285A>T
c.151+6501A>T (n.151+6501A>T)
c.405A>T (n.405A>T)
c.716A>T (p.Lys239Met)
c.3182A>T (p.Lys1061Met)
c.656-1029A>T (n.656-1029A>T)
c.3113A>T (p.Lys1038Met)
c.3176A>T (p.Lys1059Met)
c.3164A>T (p.Lys1055Met)
2g.144389911T>CCA348700552ZEB2c.*3034A>G (n.*3034A>G)
c.2408A>G (p.Lys803Arg)
c.3185A>G (p.Lys1062Arg)
n.3154A>G
c.2849A>G (p.Lys950Arg)
c.3260A>G (p.Lys1087Arg)
c.*2902A>G (n.*2902A>G)
n.3285A>G
c.151+6501A>G (n.151+6501A>G)
c.405A>G (n.405A>G)
c.716A>G (p.Lys239Arg)
c.3182A>G (p.Lys1061Arg)
c.656-1029A>G (n.656-1029A>G)
c.3113A>G (p.Lys1038Arg)
c.3176A>G (p.Lys1059Arg)
c.3164A>G (p.Lys1055Arg)
2g.144389911T>GCA348700553ZEB2c.*3034A>C (n.*3034A>C)
c.2408A>C (p.Lys803Thr)
c.3185A>C (p.Lys1062Thr)
n.3154A>C
c.2849A>C (p.Lys950Thr)
c.3260A>C (p.Lys1087Thr)
c.*2902A>C (n.*2902A>C)
n.3285A>C
c.151+6501A>C (n.151+6501A>C)
c.405A>C (n.405A>C)
c.716A>C (p.Lys239Thr)
c.3182A>C (p.Lys1061Thr)
c.656-1029A>C (n.656-1029A>C)
c.3113A>C (p.Lys1038Thr)
c.3176A>C (p.Lys1059Thr)
c.3164A>C (p.Lys1055Thr)
2g.144389912T>ACA348700561ZEB2c.*3033A>T (n.*3033A>T)
c.2407A>T (p.Lys803Ter)
c.3184A>T (p.Lys1062Ter)
n.3153A>T
c.2848A>T (p.Lys950Ter)
c.3259A>T (p.Lys1087Ter)
c.*2901A>T (n.*2901A>T)
n.3284A>T
c.151+6500A>T (n.151+6500A>T)
c.404A>T (n.404A>T)
c.715A>T (p.Lys239Ter)
c.3181A>T (p.Lys1061Ter)
c.656-1030A>T (n.656-1030A>T)
c.3112A>T (p.Lys1038Ter)
c.3175A>T (p.Lys1059Ter)
c.3163A>T (p.Lys1055Ter)
2g.144389912T>CCA348700560ZEB2c.*3033A>G (n.*3033A>G)
c.2407A>G (p.Lys803Glu)
c.3184A>G (p.Lys1062Glu)
n.3153A>G
c.2848A>G (p.Lys950Glu)
c.3259A>G (p.Lys1087Glu)
c.*2901A>G (n.*2901A>G)
n.3284A>G
c.151+6500A>G (n.151+6500A>G)
c.404A>G (n.404A>G)
c.715A>G (p.Lys239Glu)
c.3181A>G (p.Lys1061Glu)
c.656-1030A>G (n.656-1030A>G)
c.3112A>G (p.Lys1038Glu)
c.3175A>G (p.Lys1059Glu)
c.3163A>G (p.Lys1055Glu)
2g.144389912T>GCA348700559ZEB2c.*3033A>C (n.*3033A>C)
c.2407A>C (p.Lys803Gln)
c.3184A>C (p.Lys1062Gln)
n.3153A>C
c.2848A>C (p.Lys950Gln)
c.3259A>C (p.Lys1087Gln)
c.*2901A>C (n.*2901A>C)
n.3284A>C
c.151+6500A>C (n.151+6500A>C)
c.404A>C (n.404A>C)
c.715A>C (p.Lys239Gln)
c.3181A>C (p.Lys1061Gln)
c.656-1030A>C (n.656-1030A>C)
c.3112A>C (p.Lys1038Gln)
c.3175A>C (p.Lys1059Gln)
c.3163A>C (p.Lys1055Gln)
2g.144389913G>ACA429445455ZEB2c.*3032C>T (n.*3032C>T)
c.2406C>T (p.Gly802=)
c.3183C>T (p.Gly1061=)
n.3152C>T
c.2847C>T (p.Gly949=)
c.3258C>T (p.Gly1086=)
c.*2900C>T (n.*2900C>T)
n.3283C>T
c.151+6499C>T (n.151+6499C>T)
c.403C>T (n.403C>T)
c.714C>T (p.Gly238=)
c.3180C>T (p.Gly1060=)
c.656-1031C>T (n.656-1031C>T)
c.3111C>T (p.Gly1037=)
c.3174C>T (p.Gly1058=)
c.3162C>T (p.Gly1054=)
2g.144389913G>CCA429445457ZEB2c.*3032C>G (n.*3032C>G)
c.2406C>G (p.Gly802=)
c.3183C>G (p.Gly1061=)
n.3152C>G
c.2847C>G (p.Gly949=)
c.3258C>G (p.Gly1086=)
c.*2900C>G (n.*2900C>G)
n.3283C>G
c.151+6499C>G (n.151+6499C>G)
c.403C>G (n.403C>G)
c.714C>G (p.Gly238=)
c.3180C>G (p.Gly1060=)
c.656-1031C>G (n.656-1031C>G)
c.3111C>G (p.Gly1037=)
c.3174C>G (p.Gly1058=)
c.3162C>G (p.Gly1054=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389913G=CA1294881384ZEB2c.*3032C= (n.*3032C=)
c.2406C= (p.Gly802=)
c.3183C= (p.Gly1061=)
n.3152C=
c.2847C= (p.Gly949=)
c.3258C= (p.Gly1086=)
c.*2900C= (n.*2900C=)
n.3283C=
c.151+6499C= (n.151+6499C=)
c.403C= (n.403C=)
c.714C= (p.Gly238=)
c.3180C= (p.Gly1060=)
c.656-1031C= (n.656-1031C=)
c.3111C= (p.Gly1037=)
c.3174C= (p.Gly1058=)
c.3162C= (p.Gly1054=)
2g.144389913G>TCA429445458ZEB2c.*3032C>A (n.*3032C>A)
c.2406C>A (p.Gly802=)
c.3183C>A (p.Gly1061=)
n.3152C>A
c.2847C>A (p.Gly949=)
c.3258C>A (p.Gly1086=)
c.*2900C>A (n.*2900C>A)
n.3283C>A
c.151+6499C>A (n.151+6499C>A)
c.403C>A (n.403C>A)
c.714C>A (p.Gly238=)
c.3180C>A (p.Gly1060=)
c.656-1031C>A (n.656-1031C>A)
c.3111C>A (p.Gly1037=)
c.3174C>A (p.Gly1058=)
c.3162C>A (p.Gly1054=)
 gnomAD v4
2g.144389914C>ACA348700563ZEB2c.*3031G>T (n.*3031G>T)
c.2405G>T (p.Gly802Val)
c.3182G>T (p.Gly1061Val)
n.3151G>T
c.2846G>T (p.Gly949Val)
c.3257G>T (p.Gly1086Val)
c.*2899G>T (n.*2899G>T)
n.3282G>T
c.151+6498G>T (n.151+6498G>T)
c.402G>T (n.402G>T)
c.713G>T (p.Gly238Val)
c.3179G>T (p.Gly1060Val)
c.656-1032G>T (n.656-1032G>T)
c.3110G>T (p.Gly1037Val)
c.3173G>T (p.Gly1058Val)
c.3161G>T (p.Gly1054Val)
2g.144389914C>GCA348700573ZEB2c.*3031G>C (n.*3031G>C)
c.2405G>C (p.Gly802Ala)
c.3182G>C (p.Gly1061Ala)
n.3151G>C
c.2846G>C (p.Gly949Ala)
c.3257G>C (p.Gly1086Ala)
c.*2899G>C (n.*2899G>C)
n.3282G>C
c.151+6498G>C (n.151+6498G>C)
c.402G>C (n.402G>C)
c.713G>C (p.Gly238Ala)
c.3179G>C (p.Gly1060Ala)
c.656-1032G>C (n.656-1032G>C)
c.3110G>C (p.Gly1037Ala)
c.3173G>C (p.Gly1058Ala)
c.3161G>C (p.Gly1054Ala)
2g.144389914C>TCA348700571ZEB2c.*3031G>A (n.*3031G>A)
c.2405G>A (p.Gly802Asp)
c.3182G>A (p.Gly1061Asp)
n.3151G>A
c.2846G>A (p.Gly949Asp)
c.3257G>A (p.Gly1086Asp)
c.*2899G>A (n.*2899G>A)
n.3282G>A
c.151+6498G>A (n.151+6498G>A)
c.402G>A (n.402G>A)
c.713G>A (p.Gly238Asp)
c.3179G>A (p.Gly1060Asp)
c.656-1032G>A (n.656-1032G>A)
c.3110G>A (p.Gly1037Asp)
c.3173G>A (p.Gly1058Asp)
c.3161G>A (p.Gly1054Asp)
2g.144389915C>ACA348700574ZEB2c.*3030G>T (n.*3030G>T)
c.2404G>T (p.Gly802Cys)
c.3181G>T (p.Gly1061Cys)
n.3150G>T
c.2845G>T (p.Gly949Cys)
c.3256G>T (p.Gly1086Cys)
c.*2898G>T (n.*2898G>T)
n.3281G>T
c.151+6497G>T (n.151+6497G>T)
c.401G>T (n.401G>T)
c.712G>T (p.Gly238Cys)
c.3178G>T (p.Gly1060Cys)
c.656-1033G>T (n.656-1033G>T)
c.3109G>T (p.Gly1037Cys)
c.3172G>T (p.Gly1058Cys)
c.3160G>T (p.Gly1054Cys)
2g.144389915C=CA1294881385ZEB2c.*3030G= (n.*3030G=)
c.2404G= (p.Gly802=)
c.3181G= (p.Gly1061=)
n.3150G=
c.2845G= (p.Gly949=)
c.3256G= (p.Gly1086=)
c.*2898G= (n.*2898G=)
n.3281G=
c.151+6497G= (n.151+6497G=)
c.401G= (n.401G=)
c.712G= (p.Gly238=)
c.3178G= (p.Gly1060=)
c.656-1033G= (n.656-1033G=)
c.3109G= (p.Gly1037=)
c.3172G= (p.Gly1058=)
c.3160G= (p.Gly1054=)
2g.144389915C>GCA348700576ZEB2c.*3030G>C (n.*3030G>C)
c.2404G>C (p.Gly802Arg)
c.3181G>C (p.Gly1061Arg)
n.3150G>C
c.2845G>C (p.Gly949Arg)
c.3256G>C (p.Gly1086Arg)
c.*2898G>C (n.*2898G>C)
n.3281G>C
c.151+6497G>C (n.151+6497G>C)
c.401G>C (n.401G>C)
c.712G>C (p.Gly238Arg)
c.3178G>C (p.Gly1060Arg)
c.656-1033G>C (n.656-1033G>C)
c.3109G>C (p.Gly1037Arg)
c.3172G>C (p.Gly1058Arg)
c.3160G>C (p.Gly1054Arg)
 gnomAD v4
2g.144389915C>TCA1898139ZEB2c.*3030G>A (n.*3030G>A)
c.2404G>A (p.Gly802Ser)
c.3181G>A (p.Gly1061Ser)
n.3150G>A
c.2845G>A (p.Gly949Ser)
c.3256G>A (p.Gly1086Ser)
c.*2898G>A (n.*2898G>A)
n.3281G>A
c.151+6497G>A (n.151+6497G>A)
c.401G>A (n.401G>A)
c.712G>A (p.Gly238Ser)
c.3178G>A (p.Gly1060Ser)
c.656-1033G>A (n.656-1033G>A)
c.3109G>A (p.Gly1037Ser)
c.3172G>A (p.Gly1058Ser)
c.3160G>A (p.Gly1054Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389916A=CA1294881386ZEB2c.*3029T= (n.*3029T=)
c.2403T= (p.Cys801=)
c.3180T= (p.Cys1060=)
n.3149T=
c.2844T= (p.Cys948=)
c.3255T= (p.Cys1085=)
c.*2897T= (n.*2897T=)
n.3280T=
c.151+6496T= (n.151+6496T=)
c.400T= (n.400T=)
c.711T= (p.Cys237=)
c.3177T= (p.Cys1059=)
c.656-1034T= (n.656-1034T=)
c.3108T= (p.Cys1036=)
c.3171T= (p.Cys1057=)
c.3159T= (p.Cys1053=)

Number of alleles fetched