Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389812_144389820dupCA1898130ZEB2c.*3132_*3140dup (n.*3132_*3140dup)
c.2506_2514dup (p.Glu838_Lys839insAlaArgGlu)
c.3283_3291dup (p.Glu1097_Lys1098insAlaArgGlu)
c.3230+53_3231-52dup (n.3230+53_3231-52dup)
n.3252_3260dup
c.2947_2955dup (p.Glu985_Lys986insAlaArgGlu)
c.3358_3366dup (p.Glu1122_Lys1123insAlaArgGlu)
c.*3000_*3008dup (n.*3000_*3008dup)
n.3383_3391dup
c.151+6599_151+6607dup (n.151+6599_151+6607dup)
c.503_511dup (n.503_511dup)
c.814_822dup (p.Glu274_Lys275insAlaArgGlu)
c.3280_3288dup (p.Glu1096_Lys1097insAlaArgGlu)
c.656-931_656-923dup (n.656-931_656-923dup)
c.3211_3219dup (p.Glu1073_Lys1074insAlaArgGlu)
c.3274_3282dup (p.Glu1094_Lys1095insAlaArgGlu)
c.3262_3270dup (p.Glu1090_Lys1091insAlaArgGlu)
 dbSNP ExAC gnomAD v2
2g.144389809C>ACA1898132ZEB2c.*3136G>T (n.*3136G>T)
c.2510G>T (p.Arg837Leu)
c.3287G>T (p.Arg1096Leu)
c.3231-56G>T (n.3231-56G>T)
n.3256G>T
c.2951G>T (p.Arg984Leu)
c.3362G>T (p.Arg1121Leu)
c.*3004G>T (n.*3004G>T)
n.3387G>T
c.151+6603G>T (n.151+6603G>T)
c.507G>T (n.507G>T)
c.818G>T (p.Arg273Leu)
c.3284G>T (p.Arg1095Leu)
c.656-927G>T (n.656-927G>T)
c.3215G>T (p.Arg1072Leu)
c.3278G>T (p.Arg1093Leu)
c.3266G>T (p.Arg1089Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389809C=CA1294881348ZEB2c.*3136G= (n.*3136G=)
c.2510G= (p.Arg837=)
c.3287G= (p.Arg1096=)
c.3231-56G= (n.3231-56G=)
n.3256G=
c.2951G= (p.Arg984=)
c.3362G= (p.Arg1121=)
c.*3004G= (n.*3004G=)
n.3387G=
c.151+6603G= (n.151+6603G=)
c.507G= (n.507G=)
c.818G= (p.Arg273=)
c.3284G= (p.Arg1095=)
c.656-927G= (n.656-927G=)
c.3215G= (p.Arg1072=)
c.3278G= (p.Arg1093=)
c.3266G= (p.Arg1089=)
2g.144389809C>GCA348699830ZEB2c.*3136G>C (n.*3136G>C)
c.2510G>C (p.Arg837Pro)
c.3287G>C (p.Arg1096Pro)
c.3231-56G>C (n.3231-56G>C)
n.3256G>C
c.2951G>C (p.Arg984Pro)
c.3362G>C (p.Arg1121Pro)
c.*3004G>C (n.*3004G>C)
n.3387G>C
c.151+6603G>C (n.151+6603G>C)
c.507G>C (n.507G>C)
c.818G>C (p.Arg273Pro)
c.3284G>C (p.Arg1095Pro)
c.656-927G>C (n.656-927G>C)
c.3215G>C (p.Arg1072Pro)
c.3278G>C (p.Arg1093Pro)
c.3266G>C (p.Arg1089Pro)
2g.144389809C>TCA57549498ZEB2c.*3136G>A (n.*3136G>A)
c.2510G>A (p.Arg837His)
c.3287G>A (p.Arg1096His)
c.3231-56G>A (n.3231-56G>A)
n.3256G>A
c.2951G>A (p.Arg984His)
c.3362G>A (p.Arg1121His)
c.*3004G>A (n.*3004G>A)
n.3387G>A
c.151+6603G>A (n.151+6603G>A)
c.507G>A (n.507G>A)
c.818G>A (p.Arg273His)
c.3284G>A (p.Arg1095His)
c.656-927G>A (n.656-927G>A)
c.3215G>A (p.Arg1072His)
c.3278G>A (p.Arg1093His)
c.3266G>A (p.Arg1089His)
 dbSNP gnomAD v3 gnomAD v4
2g.144389810G>ACA348699833ZEB2c.*3135C>T (n.*3135C>T)
c.2509C>T (p.Arg837Cys)
c.3286C>T (p.Arg1096Cys)
c.3231-57C>T (n.3231-57C>T)
n.3255C>T
c.2950C>T (p.Arg984Cys)
c.3361C>T (p.Arg1121Cys)
c.*3003C>T (n.*3003C>T)
n.3386C>T
c.151+6602C>T (n.151+6602C>T)
c.506C>T (n.506C>T)
c.817C>T (p.Arg273Cys)
c.3283C>T (p.Arg1095Cys)
c.656-928C>T (n.656-928C>T)
c.3214C>T (p.Arg1072Cys)
c.3277C>T (p.Arg1093Cys)
c.3265C>T (p.Arg1089Cys)
2g.144389810G>CCA348699838ZEB2c.*3135C>G (n.*3135C>G)
c.2509C>G (p.Arg837Gly)
c.3286C>G (p.Arg1096Gly)
c.3231-57C>G (n.3231-57C>G)
n.3255C>G
c.2950C>G (p.Arg984Gly)
c.3361C>G (p.Arg1121Gly)
c.*3003C>G (n.*3003C>G)
n.3386C>G
c.151+6602C>G (n.151+6602C>G)
c.506C>G (n.506C>G)
c.817C>G (p.Arg273Gly)
c.3283C>G (p.Arg1095Gly)
c.656-928C>G (n.656-928C>G)
c.3214C>G (p.Arg1072Gly)
c.3277C>G (p.Arg1093Gly)
c.3265C>G (p.Arg1089Gly)
2g.144389810G=CA1294881349ZEB2c.*3135C= (n.*3135C=)
c.2509C= (p.Arg837=)
c.3286C= (p.Arg1096=)
c.3231-57C= (n.3231-57C=)
n.3255C=
c.2950C= (p.Arg984=)
c.3361C= (p.Arg1121=)
c.*3003C= (n.*3003C=)
n.3386C=
c.151+6602C= (n.151+6602C=)
c.506C= (n.506C=)
c.817C= (p.Arg273=)
c.3283C= (p.Arg1095=)
c.656-928C= (n.656-928C=)
c.3214C= (p.Arg1072=)
c.3277C= (p.Arg1093=)
c.3265C= (p.Arg1089=)
2g.144389810G>TCA348699836ZEB2c.*3135C>A (n.*3135C>A)
c.2509C>A (p.Arg837Ser)
c.3286C>A (p.Arg1096Ser)
c.3231-57C>A (n.3231-57C>A)
n.3255C>A
c.2950C>A (p.Arg984Ser)
c.3361C>A (p.Arg1121Ser)
c.*3003C>A (n.*3003C>A)
n.3386C>A
c.151+6602C>A (n.151+6602C>A)
c.506C>A (n.506C>A)
c.817C>A (p.Arg273Ser)
c.3283C>A (p.Arg1095Ser)
c.656-928C>A (n.656-928C>A)
c.3214C>A (p.Arg1072Ser)
c.3277C>A (p.Arg1093Ser)
c.3265C>A (p.Arg1089Ser)
 ClinVar dbSNP gnomAD v4
2g.144389811C>ACA429445189ZEB2c.*3134G>T (n.*3134G>T)
c.2508G>T (p.Ala836=)
c.3285G>T (p.Ala1095=)
c.3230+55G>T (n.3230+55G>T)
n.3254G>T
c.2949G>T (p.Ala983=)
c.3360G>T (p.Ala1120=)
c.*3002G>T (n.*3002G>T)
n.3385G>T
c.151+6601G>T (n.151+6601G>T)
c.505G>T (n.505G>T)
c.816G>T (p.Ala272=)
c.3282G>T (p.Ala1094=)
c.656-929G>T (n.656-929G>T)
c.3213G>T (p.Ala1071=)
c.3276G>T (p.Ala1092=)
c.3264G>T (p.Ala1088=)
 dbSNP gnomAD v3 gnomAD v4
2g.144389811C=CA1294881350ZEB2c.*3134G= (n.*3134G=)
c.2508G= (p.Ala836=)
c.3285G= (p.Ala1095=)
c.3230+55G= (n.3230+55G=)
n.3254G=
c.2949G= (p.Ala983=)
c.3360G= (p.Ala1120=)
c.*3002G= (n.*3002G=)
n.3385G=
c.151+6601G= (n.151+6601G=)
c.505G= (n.505G=)
c.816G= (p.Ala272=)
c.3282G= (p.Ala1094=)
c.656-929G= (n.656-929G=)
c.3213G= (p.Ala1071=)
c.3276G= (p.Ala1092=)
c.3264G= (p.Ala1088=)
2g.144389811C>GCA429445192ZEB2c.*3134G>C (n.*3134G>C)
c.2508G>C (p.Ala836=)
c.3285G>C (p.Ala1095=)
c.3230+55G>C (n.3230+55G>C)
n.3254G>C
c.2949G>C (p.Ala983=)
c.3360G>C (p.Ala1120=)
c.*3002G>C (n.*3002G>C)
n.3385G>C
c.151+6601G>C (n.151+6601G>C)
c.505G>C (n.505G>C)
c.816G>C (p.Ala272=)
c.3282G>C (p.Ala1094=)
c.656-929G>C (n.656-929G>C)
c.3213G>C (p.Ala1071=)
c.3276G>C (p.Ala1092=)
c.3264G>C (p.Ala1088=)
2g.144389811C>TCA1898133ZEB2c.*3134G>A (n.*3134G>A)
c.2508G>A (p.Ala836=)
c.3285G>A (p.Ala1095=)
c.3230+55G>A (n.3230+55G>A)
n.3254G>A
c.2949G>A (p.Ala983=)
c.3360G>A (p.Ala1120=)
c.*3002G>A (n.*3002G>A)
n.3385G>A
c.151+6601G>A (n.151+6601G>A)
c.505G>A (n.505G>A)
c.816G>A (p.Ala272=)
c.3282G>A (p.Ala1094=)
c.656-929G>A (n.656-929G>A)
c.3213G>A (p.Ala1071=)
c.3276G>A (p.Ala1092=)
c.3264G>A (p.Ala1088=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389812G>ACA348699841ZEB2c.*3133C>T (n.*3133C>T)
c.2507C>T (p.Ala836Val)
c.3284C>T (p.Ala1095Val)
c.3230+54C>T (n.3230+54C>T)
n.3253C>T
c.2948C>T (p.Ala983Val)
c.3359C>T (p.Ala1120Val)
c.*3001C>T (n.*3001C>T)
n.3384C>T
c.151+6600C>T (n.151+6600C>T)
c.504C>T (n.504C>T)
c.815C>T (p.Ala272Val)
c.3281C>T (p.Ala1094Val)
c.656-930C>T (n.656-930C>T)
c.3212C>T (p.Ala1071Val)
c.3275C>T (p.Ala1092Val)
c.3263C>T (p.Ala1088Val)
 gnomAD v4
2g.144389812G>CCA348699842ZEB2c.*3133C>G (n.*3133C>G)
c.2507C>G (p.Ala836Gly)
c.3284C>G (p.Ala1095Gly)
c.3230+54C>G (n.3230+54C>G)
n.3253C>G
c.2948C>G (p.Ala983Gly)
c.3359C>G (p.Ala1120Gly)
c.*3001C>G (n.*3001C>G)
n.3384C>G
c.151+6600C>G (n.151+6600C>G)
c.504C>G (n.504C>G)
c.815C>G (p.Ala272Gly)
c.3281C>G (p.Ala1094Gly)
c.656-930C>G (n.656-930C>G)
c.3212C>G (p.Ala1071Gly)
c.3275C>G (p.Ala1092Gly)
c.3263C>G (p.Ala1088Gly)
2g.144389812G=CA1294881351ZEB2c.*3133C= (n.*3133C=)
c.2507C= (p.Ala836=)
c.3284C= (p.Ala1095=)
c.3230+54C= (n.3230+54C=)
n.3253C=
c.2948C= (p.Ala983=)
c.3359C= (p.Ala1120=)
c.*3001C= (n.*3001C=)
n.3384C=
c.151+6600C= (n.151+6600C=)
c.504C= (n.504C=)
c.815C= (p.Ala272=)
c.3281C= (p.Ala1094=)
c.656-930C= (n.656-930C=)
c.3212C= (p.Ala1071=)
c.3275C= (p.Ala1092=)
c.3263C= (p.Ala1088=)
2g.144389812G>TCA348699844ZEB2c.*3133C>A (n.*3133C>A)
c.2507C>A (p.Ala836Glu)
c.3284C>A (p.Ala1095Glu)
c.3230+54C>A (n.3230+54C>A)
n.3253C>A
c.2948C>A (p.Ala983Glu)
c.3359C>A (p.Ala1120Glu)
c.*3001C>A (n.*3001C>A)
n.3384C>A
c.151+6600C>A (n.151+6600C>A)
c.504C>A (n.504C>A)
c.815C>A (p.Ala272Glu)
c.3281C>A (p.Ala1094Glu)
c.656-930C>A (n.656-930C>A)
c.3212C>A (p.Ala1071Glu)
c.3275C>A (p.Ala1092Glu)
c.3263C>A (p.Ala1088Glu)
 gnomAD v4 COSMIC
2g.144389813C>ACA348699846ZEB2c.*3132G>T (n.*3132G>T)
c.2506G>T (p.Ala836Ser)
c.3283G>T (p.Ala1095Ser)
c.3230+53G>T (n.3230+53G>T)
n.3252G>T
c.2947G>T (p.Ala983Ser)
c.3358G>T (p.Ala1120Ser)
c.*3000G>T (n.*3000G>T)
n.3383G>T
c.151+6599G>T (n.151+6599G>T)
c.503G>T (n.503G>T)
c.814G>T (p.Ala272Ser)
c.3280G>T (p.Ala1094Ser)
c.656-931G>T (n.656-931G>T)
c.3211G>T (p.Ala1071Ser)
c.3274G>T (p.Ala1092Ser)
c.3262G>T (p.Ala1088Ser)
2g.144389813C=CA1294881353ZEB2c.*3132G= (n.*3132G=)
c.2506G= (p.Ala836=)
c.3283G= (p.Ala1095=)
c.3230+53G= (n.3230+53G=)
n.3252G=
c.2947G= (p.Ala983=)
c.3358G= (p.Ala1120=)
c.*3000G= (n.*3000G=)
n.3383G=
c.151+6599G= (n.151+6599G=)
c.503G= (n.503G=)
c.814G= (p.Ala272=)
c.3280G= (p.Ala1094=)
c.656-931G= (n.656-931G=)
c.3211G= (p.Ala1071=)
c.3274G= (p.Ala1092=)
c.3262G= (p.Ala1088=)
2g.144389813C>GCA348699847ZEB2c.*3132G>C (n.*3132G>C)
c.2506G>C (p.Ala836Pro)
c.3283G>C (p.Ala1095Pro)
c.3230+53G>C (n.3230+53G>C)
n.3252G>C
c.2947G>C (p.Ala983Pro)
c.3358G>C (p.Ala1120Pro)
c.*3000G>C (n.*3000G>C)
n.3383G>C
c.151+6599G>C (n.151+6599G>C)
c.503G>C (n.503G>C)
c.814G>C (p.Ala272Pro)
c.3280G>C (p.Ala1094Pro)
c.656-931G>C (n.656-931G>C)
c.3211G>C (p.Ala1071Pro)
c.3274G>C (p.Ala1092Pro)
c.3262G>C (p.Ala1088Pro)
2g.144389813C>TCA348699848ZEB2c.*3132G>A (n.*3132G>A)
c.2506G>A (p.Ala836Thr)
c.3283G>A (p.Ala1095Thr)
c.3230+53G>A (n.3230+53G>A)
n.3252G>A
c.2947G>A (p.Ala983Thr)
c.3358G>A (p.Ala1120Thr)
c.*3000G>A (n.*3000G>A)
n.3383G>A
c.151+6599G>A (n.151+6599G>A)
c.503G>A (n.503G>A)
c.814G>A (p.Ala272Thr)
c.3280G>A (p.Ala1094Thr)
c.656-931G>A (n.656-931G>A)
c.3211G>A (p.Ala1071Thr)
c.3274G>A (p.Ala1092Thr)
c.3262G>A (p.Ala1088Thr)
 ClinVar dbSNP
2g.144389815_144389823dupCA1294881352ZEB2c.*3124_*3132dup (n.*3124_*3132dup)
c.2498_2506dup (p.Glu835_Ala836insGluArgGlu)
c.3275_3283dup (p.Glu1094_Ala1095insGluArgGlu)
c.3230+45_3230+53dup (n.3230+45_3230+53dup)
n.3244_3252dup
c.2939_2947dup (p.Glu982_Ala983insGluArgGlu)
c.3350_3358dup (p.Glu1119_Ala1120insGluArgGlu)
c.*2992_*3000dup (n.*2992_*3000dup)
n.3375_3383dup
c.151+6591_151+6599dup (n.151+6591_151+6599dup)
c.495_503dup (n.495_503dup)
c.806_814dup (p.Glu271_Ala272insGluArgGlu)
c.3272_3280dup (p.Glu1093_Ala1094insGluArgGlu)
c.656-939_656-931dup (n.656-939_656-931dup)
c.3203_3211dup (p.Glu1070_Ala1071insGluArgGlu)
c.3266_3274dup (p.Glu1091_Ala1092insGluArgGlu)
c.3254_3262dup (p.Glu1087_Ala1088insGluArgGlu)
 dbSNP
2g.144389814C>ACA348699851ZEB2c.*3131G>T (n.*3131G>T)
c.2505G>T (p.Glu835Asp)
c.3282G>T (p.Glu1094Asp)
c.3230+52G>T (n.3230+52G>T)
n.3251G>T
c.2946G>T (p.Glu982Asp)
c.3357G>T (p.Glu1119Asp)
c.*2999G>T (n.*2999G>T)
n.3382G>T
c.151+6598G>T (n.151+6598G>T)
c.502G>T (n.502G>T)
c.813G>T (p.Glu271Asp)
c.3279G>T (p.Glu1093Asp)
c.656-932G>T (n.656-932G>T)
c.3210G>T (p.Glu1070Asp)
c.3273G>T (p.Glu1091Asp)
c.3261G>T (p.Glu1087Asp)
2g.144389814C>GCA348699849ZEB2c.*3131G>C (n.*3131G>C)
c.2505G>C (p.Glu835Asp)
c.3282G>C (p.Glu1094Asp)
c.3230+52G>C (n.3230+52G>C)
n.3251G>C
c.2946G>C (p.Glu982Asp)
c.3357G>C (p.Glu1119Asp)
c.*2999G>C (n.*2999G>C)
n.3382G>C
c.151+6598G>C (n.151+6598G>C)
c.502G>C (n.502G>C)
c.813G>C (p.Glu271Asp)
c.3279G>C (p.Glu1093Asp)
c.656-932G>C (n.656-932G>C)
c.3210G>C (p.Glu1070Asp)
c.3273G>C (p.Glu1091Asp)
c.3261G>C (p.Glu1087Asp)
2g.144389814C>TCA429445207ZEB2c.*3131G>A (n.*3131G>A)
c.2505G>A (p.Glu835=)
c.3282G>A (p.Glu1094=)
c.3230+52G>A (n.3230+52G>A)
n.3251G>A
c.2946G>A (p.Glu982=)
c.3357G>A (p.Glu1119=)
c.*2999G>A (n.*2999G>A)
n.3382G>A
c.151+6598G>A (n.151+6598G>A)
c.502G>A (n.502G>A)
c.813G>A (p.Glu271=)
c.3279G>A (p.Glu1093=)
c.656-932G>A (n.656-932G>A)
c.3210G>A (p.Glu1070=)
c.3273G>A (p.Glu1091=)
c.3261G>A (p.Glu1087=)
2g.144389815T>ACA348699854ZEB2c.*3130A>T (n.*3130A>T)
c.2504A>T (p.Glu835Val)
c.3281A>T (p.Glu1094Val)
c.3230+51A>T (n.3230+51A>T)
n.3250A>T
c.2945A>T (p.Glu982Val)
c.3356A>T (p.Glu1119Val)
c.*2998A>T (n.*2998A>T)
n.3381A>T
c.151+6597A>T (n.151+6597A>T)
c.501A>T (n.501A>T)
c.812A>T (p.Glu271Val)
c.3278A>T (p.Glu1093Val)
c.656-933A>T (n.656-933A>T)
c.3209A>T (p.Glu1070Val)
c.3272A>T (p.Glu1091Val)
c.3260A>T (p.Glu1087Val)
2g.144389815T>CCA348699856ZEB2c.*3130A>G (n.*3130A>G)
c.2504A>G (p.Glu835Gly)
c.3281A>G (p.Glu1094Gly)
c.3230+51A>G (n.3230+51A>G)
n.3250A>G
c.2945A>G (p.Glu982Gly)
c.3356A>G (p.Glu1119Gly)
c.*2998A>G (n.*2998A>G)
n.3381A>G
c.151+6597A>G (n.151+6597A>G)
c.501A>G (n.501A>G)
c.812A>G (p.Glu271Gly)
c.3278A>G (p.Glu1093Gly)
c.656-933A>G (n.656-933A>G)
c.3209A>G (p.Glu1070Gly)
c.3272A>G (p.Glu1091Gly)
c.3260A>G (p.Glu1087Gly)
2g.144389815T>GCA348699858ZEB2c.*3130A>C (n.*3130A>C)
c.2504A>C (p.Glu835Ala)
c.3281A>C (p.Glu1094Ala)
c.3230+51A>C (n.3230+51A>C)
n.3250A>C
c.2945A>C (p.Glu982Ala)
c.3356A>C (p.Glu1119Ala)
c.*2998A>C (n.*2998A>C)
n.3381A>C
c.151+6597A>C (n.151+6597A>C)
c.501A>C (n.501A>C)
c.812A>C (p.Glu271Ala)
c.3278A>C (p.Glu1093Ala)
c.656-933A>C (n.656-933A>C)
c.3209A>C (p.Glu1070Ala)
c.3272A>C (p.Glu1091Ala)
c.3260A>C (p.Glu1087Ala)
2g.144389816C>ACA348699861ZEB2c.*3129G>T (n.*3129G>T)
c.2503G>T (p.Glu835Ter)
c.3280G>T (p.Glu1094Ter)
c.3230+50G>T (n.3230+50G>T)
n.3249G>T
c.2944G>T (p.Glu982Ter)
c.3355G>T (p.Glu1119Ter)
c.*2997G>T (n.*2997G>T)
n.3380G>T
c.151+6596G>T (n.151+6596G>T)
c.500G>T (n.500G>T)
c.811G>T (p.Glu271Ter)
c.3277G>T (p.Glu1093Ter)
c.656-934G>T (n.656-934G>T)
c.3208G>T (p.Glu1070Ter)
c.3271G>T (p.Glu1091Ter)
c.3259G>T (p.Glu1087Ter)
2g.144389816C=CA1294881354ZEB2c.*3129G= (n.*3129G=)
c.2503G= (p.Glu835=)
c.3280G= (p.Glu1094=)
c.3230+50G= (n.3230+50G=)
n.3249G=
c.2944G= (p.Glu982=)
c.3355G= (p.Glu1119=)
c.*2997G= (n.*2997G=)
n.3380G=
c.151+6596G= (n.151+6596G=)
c.500G= (n.500G=)
c.811G= (p.Glu271=)
c.3277G= (p.Glu1093=)
c.656-934G= (n.656-934G=)
c.3208G= (p.Glu1070=)
c.3271G= (p.Glu1091=)
c.3259G= (p.Glu1087=)
2g.144389816C>GCA348699862ZEB2c.*3129G>C (n.*3129G>C)
c.2503G>C (p.Glu835Gln)
c.3280G>C (p.Glu1094Gln)
c.3230+50G>C (n.3230+50G>C)
n.3249G>C
c.2944G>C (p.Glu982Gln)
c.3355G>C (p.Glu1119Gln)
c.*2997G>C (n.*2997G>C)
n.3380G>C
c.151+6596G>C (n.151+6596G>C)
c.500G>C (n.500G>C)
c.811G>C (p.Glu271Gln)
c.3277G>C (p.Glu1093Gln)
c.656-934G>C (n.656-934G>C)
c.3208G>C (p.Glu1070Gln)
c.3271G>C (p.Glu1091Gln)
c.3259G>C (p.Glu1087Gln)
2g.144389816C>TCA348699865ZEB2c.*3129G>A (n.*3129G>A)
c.2503G>A (p.Glu835Lys)
c.3280G>A (p.Glu1094Lys)
c.3230+50G>A (n.3230+50G>A)
n.3249G>A
c.2944G>A (p.Glu982Lys)
c.3355G>A (p.Glu1119Lys)
c.*2997G>A (n.*2997G>A)
n.3380G>A
c.151+6596G>A (n.151+6596G>A)
c.500G>A (n.500G>A)
c.811G>A (p.Glu271Lys)
c.3277G>A (p.Glu1093Lys)
c.656-934G>A (n.656-934G>A)
c.3208G>A (p.Glu1070Lys)
c.3271G>A (p.Glu1091Lys)
c.3259G>A (p.Glu1087Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144389817G>ACA429445218ZEB2c.*3128C>T (n.*3128C>T)
c.2502C>T (p.Arg834=)
c.3279C>T (p.Arg1093=)
c.3230+49C>T (n.3230+49C>T)
n.3248C>T
c.2943C>T (p.Arg981=)
c.3354C>T (p.Arg1118=)
c.*2996C>T (n.*2996C>T)
n.3379C>T
c.151+6595C>T (n.151+6595C>T)
c.499C>T (n.499C>T)
c.810C>T (p.Arg270=)
c.3276C>T (p.Arg1092=)
c.656-935C>T (n.656-935C>T)
c.3207C>T (p.Arg1069=)
c.3270C>T (p.Arg1090=)
c.3258C>T (p.Arg1086=)
2g.144389817G>CCA429445217ZEB2c.*3128C>G (n.*3128C>G)
c.2502C>G (p.Arg834=)
c.3279C>G (p.Arg1093=)
c.3230+49C>G (n.3230+49C>G)
n.3248C>G
c.2943C>G (p.Arg981=)
c.3354C>G (p.Arg1118=)
c.*2996C>G (n.*2996C>G)
n.3379C>G
c.151+6595C>G (n.151+6595C>G)
c.499C>G (n.499C>G)
c.810C>G (p.Arg270=)
c.3276C>G (p.Arg1092=)
c.656-935C>G (n.656-935C>G)
c.3207C>G (p.Arg1069=)
c.3270C>G (p.Arg1090=)
c.3258C>G (p.Arg1086=)
2g.144389817G>TCA429445216ZEB2c.*3128C>A (n.*3128C>A)
c.2502C>A (p.Arg834=)
c.3279C>A (p.Arg1093=)
c.3230+49C>A (n.3230+49C>A)
n.3248C>A
c.2943C>A (p.Arg981=)
c.3354C>A (p.Arg1118=)
c.*2996C>A (n.*2996C>A)
n.3379C>A
c.151+6595C>A (n.151+6595C>A)
c.499C>A (n.499C>A)
c.810C>A (p.Arg270=)
c.3276C>A (p.Arg1092=)
c.656-935C>A (n.656-935C>A)
c.3207C>A (p.Arg1069=)
c.3270C>A (p.Arg1090=)
c.3258C>A (p.Arg1086=)
2g.144389818C>ACA348699867ZEB2c.*3127G>T (n.*3127G>T)
c.2501G>T (p.Arg834Leu)
c.3278G>T (p.Arg1093Leu)
c.3230+48G>T (n.3230+48G>T)
n.3247G>T
c.2942G>T (p.Arg981Leu)
c.3353G>T (p.Arg1118Leu)
c.*2995G>T (n.*2995G>T)
n.3378G>T
c.151+6594G>T (n.151+6594G>T)
c.498G>T (n.498G>T)
c.809G>T (p.Arg270Leu)
c.3275G>T (p.Arg1092Leu)
c.656-936G>T (n.656-936G>T)
c.3206G>T (p.Arg1069Leu)
c.3269G>T (p.Arg1090Leu)
c.3257G>T (p.Arg1086Leu)
2g.144389818C>GCA348699870ZEB2c.*3127G>C (n.*3127G>C)
c.2501G>C (p.Arg834Pro)
c.3278G>C (p.Arg1093Pro)
c.3230+48G>C (n.3230+48G>C)
n.3247G>C
c.2942G>C (p.Arg981Pro)
c.3353G>C (p.Arg1118Pro)
c.*2995G>C (n.*2995G>C)
n.3378G>C
c.151+6594G>C (n.151+6594G>C)
c.498G>C (n.498G>C)
c.809G>C (p.Arg270Pro)
c.3275G>C (p.Arg1092Pro)
c.656-936G>C (n.656-936G>C)
c.3206G>C (p.Arg1069Pro)
c.3269G>C (p.Arg1090Pro)
c.3257G>C (p.Arg1086Pro)
2g.144389818C>TCA348699869ZEB2c.*3127G>A (n.*3127G>A)
c.2501G>A (p.Arg834His)
c.3278G>A (p.Arg1093His)
c.3230+48G>A (n.3230+48G>A)
n.3247G>A
c.2942G>A (p.Arg981His)
c.3353G>A (p.Arg1118His)
c.*2995G>A (n.*2995G>A)
n.3378G>A
c.151+6594G>A (n.151+6594G>A)
c.498G>A (n.498G>A)
c.809G>A (p.Arg270His)
c.3275G>A (p.Arg1092His)
c.656-936G>A (n.656-936G>A)
c.3206G>A (p.Arg1069His)
c.3269G>A (p.Arg1090His)
c.3257G>A (p.Arg1086His)
 gnomAD v4
2g.144389819G>ACA348699872ZEB2c.*3126C>T (n.*3126C>T)
c.2500C>T (p.Arg834Cys)
c.3277C>T (p.Arg1093Cys)
c.3230+47C>T (n.3230+47C>T)
n.3246C>T
c.2941C>T (p.Arg981Cys)
c.3352C>T (p.Arg1118Cys)
c.*2994C>T (n.*2994C>T)
n.3377C>T
c.151+6593C>T (n.151+6593C>T)
c.497C>T (n.497C>T)
c.808C>T (p.Arg270Cys)
c.3274C>T (p.Arg1092Cys)
c.656-937C>T (n.656-937C>T)
c.3205C>T (p.Arg1069Cys)
c.3268C>T (p.Arg1090Cys)
c.3256C>T (p.Arg1086Cys)
 dbSNP
2g.144389819G>CCA297619ZEB2c.*3126C>G (n.*3126C>G)
c.2500C>G (p.Arg834Gly)
c.3277C>G (p.Arg1093Gly)
c.3230+47C>G (n.3230+47C>G)
n.3246C>G
c.2941C>G (p.Arg981Gly)
c.3352C>G (p.Arg1118Gly)
c.*2994C>G (n.*2994C>G)
n.3377C>G
c.151+6593C>G (n.151+6593C>G)
c.497C>G (n.497C>G)
c.808C>G (p.Arg270Gly)
c.3274C>G (p.Arg1092Gly)
c.656-937C>G (n.656-937C>G)
c.3205C>G (p.Arg1069Gly)
c.3268C>G (p.Arg1090Gly)
c.3256C>G (p.Arg1086Gly)
 ClinVar dbSNP gnomAD v4
2g.144389819G=CA1294881355ZEB2c.*3126C= (n.*3126C=)
c.2500C= (p.Arg834=)
c.3277C= (p.Arg1093=)
c.3230+47C= (n.3230+47C=)
n.3246C=
c.2941C= (p.Arg981=)
c.3352C= (p.Arg1118=)
c.*2994C= (n.*2994C=)
n.3377C=
c.151+6593C= (n.151+6593C=)
c.497C= (n.497C=)
c.808C= (p.Arg270=)
c.3274C= (p.Arg1092=)
c.656-937C= (n.656-937C=)
c.3205C= (p.Arg1069=)
c.3268C= (p.Arg1090=)
c.3256C= (p.Arg1086=)
2g.144389819G>TCA348699877ZEB2c.*3126C>A (n.*3126C>A)
c.2500C>A (p.Arg834Ser)
c.3277C>A (p.Arg1093Ser)
c.3230+47C>A (n.3230+47C>A)
n.3246C>A
c.2941C>A (p.Arg981Ser)
c.3352C>A (p.Arg1118Ser)
c.*2994C>A (n.*2994C>A)
n.3377C>A
c.151+6593C>A (n.151+6593C>A)
c.497C>A (n.497C>A)
c.808C>A (p.Arg270Ser)
c.3274C>A (p.Arg1092Ser)
c.656-937C>A (n.656-937C>A)
c.3205C>A (p.Arg1069Ser)
c.3268C>A (p.Arg1090Ser)
c.3256C>A (p.Arg1086Ser)
2g.144389820C>ACA348699879ZEB2c.*3125G>T (n.*3125G>T)
c.2499G>T (p.Glu833Asp)
c.3276G>T (p.Glu1092Asp)
c.3230+46G>T (n.3230+46G>T)
n.3245G>T
c.2940G>T (p.Glu980Asp)
c.3351G>T (p.Glu1117Asp)
c.*2993G>T (n.*2993G>T)
n.3376G>T
c.151+6592G>T (n.151+6592G>T)
c.496G>T (n.496G>T)
c.807G>T (p.Glu269Asp)
c.3273G>T (p.Glu1091Asp)
c.656-938G>T (n.656-938G>T)
c.3204G>T (p.Glu1068Asp)
c.3267G>T (p.Glu1089Asp)
c.3255G>T (p.Glu1085Asp)
2g.144389820C=CA1294881356ZEB2c.*3125G= (n.*3125G=)
c.2499G= (p.Glu833=)
c.3276G= (p.Glu1092=)
c.3230+46G= (n.3230+46G=)
n.3245G=
c.2940G= (p.Glu980=)
c.3351G= (p.Glu1117=)
c.*2993G= (n.*2993G=)
n.3376G=
c.151+6592G= (n.151+6592G=)
c.496G= (n.496G=)
c.807G= (p.Glu269=)
c.3273G= (p.Glu1091=)
c.656-938G= (n.656-938G=)
c.3204G= (p.Glu1068=)
c.3267G= (p.Glu1089=)
c.3255G= (p.Glu1085=)
2g.144389820C>GCA348699882ZEB2c.*3125G>C (n.*3125G>C)
c.2499G>C (p.Glu833Asp)
c.3276G>C (p.Glu1092Asp)
c.3230+46G>C (n.3230+46G>C)
n.3245G>C
c.2940G>C (p.Glu980Asp)
c.3351G>C (p.Glu1117Asp)
c.*2993G>C (n.*2993G>C)
n.3376G>C
c.151+6592G>C (n.151+6592G>C)
c.496G>C (n.496G>C)
c.807G>C (p.Glu269Asp)
c.3273G>C (p.Glu1091Asp)
c.656-938G>C (n.656-938G>C)
c.3204G>C (p.Glu1068Asp)
c.3267G>C (p.Glu1089Asp)
c.3255G>C (p.Glu1085Asp)
 dbSNP
2g.144389820C>TCA429445229ZEB2c.*3125G>A (n.*3125G>A)
c.2499G>A (p.Glu833=)
c.3276G>A (p.Glu1092=)
c.3230+46G>A (n.3230+46G>A)
n.3245G>A
c.2940G>A (p.Glu980=)
c.3351G>A (p.Glu1117=)
c.*2993G>A (n.*2993G>A)
n.3376G>A
c.151+6592G>A (n.151+6592G>A)
c.496G>A (n.496G>A)
c.807G>A (p.Glu269=)
c.3273G>A (p.Glu1091=)
c.656-938G>A (n.656-938G>A)
c.3204G>A (p.Glu1068=)
c.3267G>A (p.Glu1089=)
c.3255G>A (p.Glu1085=)
 gnomAD v4
2g.144389821T>ACA348699884ZEB2c.*3124A>T (n.*3124A>T)
c.2498A>T (p.Glu833Val)
c.3275A>T (p.Glu1092Val)
c.3230+45A>T (n.3230+45A>T)
n.3244A>T
c.2939A>T (p.Glu980Val)
c.3350A>T (p.Glu1117Val)
c.*2992A>T (n.*2992A>T)
n.3375A>T
c.151+6591A>T (n.151+6591A>T)
c.495A>T (n.495A>T)
c.806A>T (p.Glu269Val)
c.3272A>T (p.Glu1091Val)
c.656-939A>T (n.656-939A>T)
c.3203A>T (p.Glu1068Val)
c.3266A>T (p.Glu1089Val)
c.3254A>T (p.Glu1085Val)
2g.144389821T>CCA348699886ZEB2c.*3124A>G (n.*3124A>G)
c.2498A>G (p.Glu833Gly)
c.3275A>G (p.Glu1092Gly)
c.3230+45A>G (n.3230+45A>G)
n.3244A>G
c.2939A>G (p.Glu980Gly)
c.3350A>G (p.Glu1117Gly)
c.*2992A>G (n.*2992A>G)
n.3375A>G
c.151+6591A>G (n.151+6591A>G)
c.495A>G (n.495A>G)
c.806A>G (p.Glu269Gly)
c.3272A>G (p.Glu1091Gly)
c.656-939A>G (n.656-939A>G)
c.3203A>G (p.Glu1068Gly)
c.3266A>G (p.Glu1089Gly)
c.3254A>G (p.Glu1085Gly)
2g.144389821T>GCA348699890ZEB2c.*3124A>C (n.*3124A>C)
c.2498A>C (p.Glu833Ala)
c.3275A>C (p.Glu1092Ala)
c.3230+45A>C (n.3230+45A>C)
n.3244A>C
c.2939A>C (p.Glu980Ala)
c.3350A>C (p.Glu1117Ala)
c.*2992A>C (n.*2992A>C)
n.3375A>C
c.151+6591A>C (n.151+6591A>C)
c.495A>C (n.495A>C)
c.806A>C (p.Glu269Ala)
c.3272A>C (p.Glu1091Ala)
c.656-939A>C (n.656-939A>C)
c.3203A>C (p.Glu1068Ala)
c.3266A>C (p.Glu1089Ala)
c.3254A>C (p.Glu1085Ala)
2g.144389822C>ACA348699894ZEB2c.*3123G>T (n.*3123G>T)
c.2497G>T (p.Glu833Ter)
c.3274G>T (p.Glu1092Ter)
c.3230+44G>T (n.3230+44G>T)
n.3243G>T
c.2938G>T (p.Glu980Ter)
c.3349G>T (p.Glu1117Ter)
c.*2991G>T (n.*2991G>T)
n.3374G>T
c.151+6590G>T (n.151+6590G>T)
c.494G>T (n.494G>T)
c.805G>T (p.Glu269Ter)
c.3271G>T (p.Glu1091Ter)
c.656-940G>T (n.656-940G>T)
c.3202G>T (p.Glu1068Ter)
c.3265G>T (p.Glu1089Ter)
c.3253G>T (p.Glu1085Ter)
2g.144389822C=CA1294881357ZEB2c.*3123G= (n.*3123G=)
c.2497G= (p.Glu833=)
c.3274G= (p.Glu1092=)
c.3230+44G= (n.3230+44G=)
n.3243G=
c.2938G= (p.Glu980=)
c.3349G= (p.Glu1117=)
c.*2991G= (n.*2991G=)
n.3374G=
c.151+6590G= (n.151+6590G=)
c.494G= (n.494G=)
c.805G= (p.Glu269=)
c.3271G= (p.Glu1091=)
c.656-940G= (n.656-940G=)
c.3202G= (p.Glu1068=)
c.3265G= (p.Glu1089=)
c.3253G= (p.Glu1085=)
2g.144389822C>GCA348699897ZEB2c.*3123G>C (n.*3123G>C)
c.2497G>C (p.Glu833Gln)
c.3274G>C (p.Glu1092Gln)
c.3230+44G>C (n.3230+44G>C)
n.3243G>C
c.2938G>C (p.Glu980Gln)
c.3349G>C (p.Glu1117Gln)
c.*2991G>C (n.*2991G>C)
n.3374G>C
c.151+6590G>C (n.151+6590G>C)
c.494G>C (n.494G>C)
c.805G>C (p.Glu269Gln)
c.3271G>C (p.Glu1091Gln)
c.656-940G>C (n.656-940G>C)
c.3202G>C (p.Glu1068Gln)
c.3265G>C (p.Glu1089Gln)
c.3253G>C (p.Glu1085Gln)
2g.144389822C>TCA348699898ZEB2c.*3123G>A (n.*3123G>A)
c.2497G>A (p.Glu833Lys)
c.3274G>A (p.Glu1092Lys)
c.3230+44G>A (n.3230+44G>A)
n.3243G>A
c.2938G>A (p.Glu980Lys)
c.3349G>A (p.Glu1117Lys)
c.*2991G>A (n.*2991G>A)
n.3374G>A
c.151+6590G>A (n.151+6590G>A)
c.494G>A (n.494G>A)
c.805G>A (p.Glu269Lys)
c.3271G>A (p.Glu1091Lys)
c.656-940G>A (n.656-940G>A)
c.3202G>A (p.Glu1068Lys)
c.3265G>A (p.Glu1089Lys)
c.3253G>A (p.Glu1085Lys)
 dbSNP gnomAD v4
2g.144389823C>ACA429445238ZEB2c.*3122G>T (n.*3122G>T)
c.2496G>T (p.Ala832=)
c.3273G>T (p.Ala1091=)
c.3230+43G>T (n.3230+43G>T)
n.3242G>T
c.2937G>T (p.Ala979=)
c.3348G>T (p.Ala1116=)
c.*2990G>T (n.*2990G>T)
n.3373G>T
c.151+6589G>T (n.151+6589G>T)
c.493G>T (n.493G>T)
c.804G>T (p.Ala268=)
c.3270G>T (p.Ala1090=)
c.656-941G>T (n.656-941G>T)
c.3201G>T (p.Ala1067=)
c.3264G>T (p.Ala1088=)
c.3252G>T (p.Ala1084=)
2g.144389823C>GCA429445241ZEB2c.*3122G>C (n.*3122G>C)
c.2496G>C (p.Ala832=)
c.3273G>C (p.Ala1091=)
c.3230+43G>C (n.3230+43G>C)
n.3242G>C
c.2937G>C (p.Ala979=)
c.3348G>C (p.Ala1116=)
c.*2990G>C (n.*2990G>C)
n.3373G>C
c.151+6589G>C (n.151+6589G>C)
c.493G>C (n.493G>C)
c.804G>C (p.Ala268=)
c.3270G>C (p.Ala1090=)
c.656-941G>C (n.656-941G>C)
c.3201G>C (p.Ala1067=)
c.3264G>C (p.Ala1088=)
c.3252G>C (p.Ala1084=)
 COSMIC
2g.144389823C>TCA429445240ZEB2c.*3122G>A (n.*3122G>A)
c.2496G>A (p.Ala832=)
c.3273G>A (p.Ala1091=)
c.3230+43G>A (n.3230+43G>A)
n.3242G>A
c.2937G>A (p.Ala979=)
c.3348G>A (p.Ala1116=)
c.*2990G>A (n.*2990G>A)
n.3373G>A
c.151+6589G>A (n.151+6589G>A)
c.493G>A (n.493G>A)
c.804G>A (p.Ala268=)
c.3270G>A (p.Ala1090=)
c.656-941G>A (n.656-941G>A)
c.3201G>A (p.Ala1067=)
c.3264G>A (p.Ala1088=)
c.3252G>A (p.Ala1084=)
 gnomAD v4
2g.144389824G>ACA348699901ZEB2c.*3121C>T (n.*3121C>T)
c.2495C>T (p.Ala832Val)
c.3272C>T (p.Ala1091Val)
c.3230+42C>T (n.3230+42C>T)
n.3241C>T
c.2936C>T (p.Ala979Val)
c.3347C>T (p.Ala1116Val)
c.*2989C>T (n.*2989C>T)
n.3372C>T
c.151+6588C>T (n.151+6588C>T)
c.492C>T (n.492C>T)
c.803C>T (p.Ala268Val)
c.3269C>T (p.Ala1090Val)
c.656-942C>T (n.656-942C>T)
c.3200C>T (p.Ala1067Val)
c.3263C>T (p.Ala1088Val)
c.3251C>T (p.Ala1084Val)
2g.144389824G>CCA348699904ZEB2c.*3121C>G (n.*3121C>G)
c.2495C>G (p.Ala832Gly)
c.3272C>G (p.Ala1091Gly)
c.3230+42C>G (n.3230+42C>G)
n.3241C>G
c.2936C>G (p.Ala979Gly)
c.3347C>G (p.Ala1116Gly)
c.*2989C>G (n.*2989C>G)
n.3372C>G
c.151+6588C>G (n.151+6588C>G)
c.492C>G (n.492C>G)
c.803C>G (p.Ala268Gly)
c.3269C>G (p.Ala1090Gly)
c.656-942C>G (n.656-942C>G)
c.3200C>G (p.Ala1067Gly)
c.3263C>G (p.Ala1088Gly)
c.3251C>G (p.Ala1084Gly)
2g.144389824G>TCA348699903ZEB2c.*3121C>A (n.*3121C>A)
c.2495C>A (p.Ala832Glu)
c.3272C>A (p.Ala1091Glu)
c.3230+42C>A (n.3230+42C>A)
n.3241C>A
c.2936C>A (p.Ala979Glu)
c.3347C>A (p.Ala1116Glu)
c.*2989C>A (n.*2989C>A)
n.3372C>A
c.151+6588C>A (n.151+6588C>A)
c.492C>A (n.492C>A)
c.803C>A (p.Ala268Glu)
c.3269C>A (p.Ala1090Glu)
c.656-942C>A (n.656-942C>A)
c.3200C>A (p.Ala1067Glu)
c.3263C>A (p.Ala1088Glu)
c.3251C>A (p.Ala1084Glu)
2g.144389825C>ACA348699911ZEB2c.*3120G>T (n.*3120G>T)
c.2494G>T (p.Ala832Ser)
c.3271G>T (p.Ala1091Ser)
c.3230+41G>T (n.3230+41G>T)
n.3240G>T
c.2935G>T (p.Ala979Ser)
c.3346G>T (p.Ala1116Ser)
c.*2988G>T (n.*2988G>T)
n.3371G>T
c.151+6587G>T (n.151+6587G>T)
c.491G>T (n.491G>T)
c.802G>T (p.Ala268Ser)
c.3268G>T (p.Ala1090Ser)
c.656-943G>T (n.656-943G>T)
c.3199G>T (p.Ala1067Ser)
c.3262G>T (p.Ala1088Ser)
c.3250G>T (p.Ala1084Ser)
 gnomAD v4
2g.144389825C>GCA348699913ZEB2c.*3120G>C (n.*3120G>C)
c.2494G>C (p.Ala832Pro)
c.3271G>C (p.Ala1091Pro)
c.3230+41G>C (n.3230+41G>C)
n.3240G>C
c.2935G>C (p.Ala979Pro)
c.3346G>C (p.Ala1116Pro)
c.*2988G>C (n.*2988G>C)
n.3371G>C
c.151+6587G>C (n.151+6587G>C)
c.491G>C (n.491G>C)
c.802G>C (p.Ala268Pro)
c.3268G>C (p.Ala1090Pro)
c.656-943G>C (n.656-943G>C)
c.3199G>C (p.Ala1067Pro)
c.3262G>C (p.Ala1088Pro)
c.3250G>C (p.Ala1084Pro)
2g.144389825C>TCA348699914ZEB2c.*3120G>A (n.*3120G>A)
c.2494G>A (p.Ala832Thr)
c.3271G>A (p.Ala1091Thr)
c.3230+41G>A (n.3230+41G>A)
n.3240G>A
c.2935G>A (p.Ala979Thr)
c.3346G>A (p.Ala1116Thr)
c.*2988G>A (n.*2988G>A)
n.3371G>A
c.151+6587G>A (n.151+6587G>A)
c.491G>A (n.491G>A)
c.802G>A (p.Ala268Thr)
c.3268G>A (p.Ala1090Thr)
c.656-943G>A (n.656-943G>A)
c.3199G>A (p.Ala1067Thr)
c.3262G>A (p.Ala1088Thr)
c.3250G>A (p.Ala1084Thr)
 ClinVar
2g.144389826C>ACA429445248ZEB2c.*3119G>T (n.*3119G>T)
c.2493G>T (p.Ala831=)
c.3270G>T (p.Ala1090=)
c.3230+40G>T (n.3230+40G>T)
n.3239G>T
c.2934G>T (p.Ala978=)
c.3345G>T (p.Ala1115=)
c.*2987G>T (n.*2987G>T)
n.3370G>T
c.151+6586G>T (n.151+6586G>T)
c.490G>T (n.490G>T)
c.801G>T (p.Ala267=)
c.3267G>T (p.Ala1089=)
c.656-944G>T (n.656-944G>T)
c.3198G>T (p.Ala1066=)
c.3261G>T (p.Ala1087=)
c.3249G>T (p.Ala1083=)
2g.144389826C=CA1294881358ZEB2c.*3119G= (n.*3119G=)
c.2493G= (p.Ala831=)
c.3270G= (p.Ala1090=)
c.3230+40G= (n.3230+40G=)
n.3239G=
c.2934G= (p.Ala978=)
c.3345G= (p.Ala1115=)
c.*2987G= (n.*2987G=)
n.3370G=
c.151+6586G= (n.151+6586G=)
c.490G= (n.490G=)
c.801G= (p.Ala267=)
c.3267G= (p.Ala1089=)
c.656-944G= (n.656-944G=)
c.3198G= (p.Ala1066=)
c.3261G= (p.Ala1087=)
c.3249G= (p.Ala1083=)
2g.144389826C>GCA429445249ZEB2c.*3119G>C (n.*3119G>C)
c.2493G>C (p.Ala831=)
c.3270G>C (p.Ala1090=)
c.3230+40G>C (n.3230+40G>C)
n.3239G>C
c.2934G>C (p.Ala978=)
c.3345G>C (p.Ala1115=)
c.*2987G>C (n.*2987G>C)
n.3370G>C
c.151+6586G>C (n.151+6586G>C)
c.490G>C (n.490G>C)
c.801G>C (p.Ala267=)
c.3267G>C (p.Ala1089=)
c.656-944G>C (n.656-944G>C)
c.3198G>C (p.Ala1066=)
c.3261G>C (p.Ala1087=)
c.3249G>C (p.Ala1083=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144389826C>TCA429445250ZEB2c.*3119G>A (n.*3119G>A)
c.2493G>A (p.Ala831=)
c.3270G>A (p.Ala1090=)
c.3230+40G>A (n.3230+40G>A)
n.3239G>A
c.2934G>A (p.Ala978=)
c.3345G>A (p.Ala1115=)
c.*2987G>A (n.*2987G>A)
n.3370G>A
c.151+6586G>A (n.151+6586G>A)
c.490G>A (n.490G>A)
c.801G>A (p.Ala267=)
c.3267G>A (p.Ala1089=)
c.656-944G>A (n.656-944G>A)
c.3198G>A (p.Ala1066=)
c.3261G>A (p.Ala1087=)
c.3249G>A (p.Ala1083=)
 COSMIC
2g.144389827G>ACA348699916ZEB2c.*3118C>T (n.*3118C>T)
c.2492C>T (p.Ala831Val)
c.3269C>T (p.Ala1090Val)
c.3230+39C>T (n.3230+39C>T)
n.3238C>T
c.2933C>T (p.Ala978Val)
c.3344C>T (p.Ala1115Val)
c.*2986C>T (n.*2986C>T)
n.3369C>T
c.151+6585C>T (n.151+6585C>T)
c.489C>T (n.489C>T)
c.800C>T (p.Ala267Val)
c.3266C>T (p.Ala1089Val)
c.656-945C>T (n.656-945C>T)
c.3197C>T (p.Ala1066Val)
c.3260C>T (p.Ala1087Val)
c.3248C>T (p.Ala1083Val)
2g.144389827G>CCA348699917ZEB2c.*3118C>G (n.*3118C>G)
c.2492C>G (p.Ala831Gly)
c.3269C>G (p.Ala1090Gly)
c.3230+39C>G (n.3230+39C>G)
n.3238C>G
c.2933C>G (p.Ala978Gly)
c.3344C>G (p.Ala1115Gly)
c.*2986C>G (n.*2986C>G)
n.3369C>G
c.151+6585C>G (n.151+6585C>G)
c.489C>G (n.489C>G)
c.800C>G (p.Ala267Gly)
c.3266C>G (p.Ala1089Gly)
c.656-945C>G (n.656-945C>G)
c.3197C>G (p.Ala1066Gly)
c.3260C>G (p.Ala1087Gly)
c.3248C>G (p.Ala1083Gly)
2g.144389827G=CA1294881359ZEB2c.*3118C= (n.*3118C=)
c.2492C= (p.Ala831=)
c.3269C= (p.Ala1090=)
c.3230+39C= (n.3230+39C=)
n.3238C=
c.2933C= (p.Ala978=)
c.3344C= (p.Ala1115=)
c.*2986C= (n.*2986C=)
n.3369C=
c.151+6585C= (n.151+6585C=)
c.489C= (n.489C=)
c.800C= (p.Ala267=)
c.3266C= (p.Ala1089=)
c.656-945C= (n.656-945C=)
c.3197C= (p.Ala1066=)
c.3260C= (p.Ala1087=)
c.3248C= (p.Ala1083=)
2g.144389827G>TCA348699919ZEB2c.*3118C>A (n.*3118C>A)
c.2492C>A (p.Ala831Glu)
c.3269C>A (p.Ala1090Glu)
c.3230+39C>A (n.3230+39C>A)
n.3238C>A
c.2933C>A (p.Ala978Glu)
c.3344C>A (p.Ala1115Glu)
c.*2986C>A (n.*2986C>A)
n.3369C>A
c.151+6585C>A (n.151+6585C>A)
c.489C>A (n.489C>A)
c.800C>A (p.Ala267Glu)
c.3266C>A (p.Ala1089Glu)
c.656-945C>A (n.656-945C>A)
c.3197C>A (p.Ala1066Glu)
c.3260C>A (p.Ala1087Glu)
c.3248C>A (p.Ala1083Glu)
2g.144389828C>ACA348699923ZEB2c.*3117G>T (n.*3117G>T)
c.2491G>T (p.Ala831Ser)
c.3268G>T (p.Ala1090Ser)
c.3230+38G>T (n.3230+38G>T)
n.3237G>T
c.2932G>T (p.Ala978Ser)
c.3343G>T (p.Ala1115Ser)
c.*2985G>T (n.*2985G>T)
n.3368G>T
c.151+6584G>T (n.151+6584G>T)
c.488G>T (n.488G>T)
c.799G>T (p.Ala267Ser)
c.3265G>T (p.Ala1089Ser)
c.656-946G>T (n.656-946G>T)
c.3196G>T (p.Ala1066Ser)
c.3259G>T (p.Ala1087Ser)
c.3247G>T (p.Ala1083Ser)
2g.144389828C>GCA348699925ZEB2c.*3117G>C (n.*3117G>C)
c.2491G>C (p.Ala831Pro)
c.3268G>C (p.Ala1090Pro)
c.3230+38G>C (n.3230+38G>C)
n.3237G>C
c.2932G>C (p.Ala978Pro)
c.3343G>C (p.Ala1115Pro)
c.*2985G>C (n.*2985G>C)
n.3368G>C
c.151+6584G>C (n.151+6584G>C)
c.488G>C (n.488G>C)
c.799G>C (p.Ala267Pro)
c.3265G>C (p.Ala1089Pro)
c.656-946G>C (n.656-946G>C)
c.3196G>C (p.Ala1066Pro)
c.3259G>C (p.Ala1087Pro)
c.3247G>C (p.Ala1083Pro)
2g.144389828C>TCA348699926ZEB2c.*3117G>A (n.*3117G>A)
c.2491G>A (p.Ala831Thr)
c.3268G>A (p.Ala1090Thr)
c.3230+38G>A (n.3230+38G>A)
n.3237G>A
c.2932G>A (p.Ala978Thr)
c.3343G>A (p.Ala1115Thr)
c.*2985G>A (n.*2985G>A)
n.3368G>A
c.151+6584G>A (n.151+6584G>A)
c.488G>A (n.488G>A)
c.799G>A (p.Ala267Thr)
c.3265G>A (p.Ala1089Thr)
c.656-946G>A (n.656-946G>A)
c.3196G>A (p.Ala1066Thr)
c.3259G>A (p.Ala1087Thr)
c.3247G>A (p.Ala1083Thr)
2g.144389829_144389846dupCA1898134ZEB2c.*3100_*3117dup (n.*3100_*3117dup)
c.2474_2491dup (p.Glu830_Ala831insGluAlaGluGluArgGlu)
c.3251_3268dup (p.Glu1089_Ala1090insGluAlaGluGluArgGlu)
c.3230+21_3230+38dup (n.3230+21_3230+38dup)
n.3220_3237dup
c.2915_2932dup (p.Glu977_Ala978insGluAlaGluGluArgGlu)
c.3326_3343dup (p.Glu1114_Ala1115insGluAlaGluGluArgGlu)
c.*2968_*2985dup (n.*2968_*2985dup)
n.3351_3368dup
c.151+6567_151+6584dup (n.151+6567_151+6584dup)
c.471_488dup (n.471_488dup)
c.782_799dup (p.Glu266_Ala267insGluAlaGluGluArgGlu)
c.3248_3265dup (p.Glu1088_Ala1089insGluAlaGluGluArgGlu)
c.656-963_656-946dup (n.656-963_656-946dup)
c.3179_3196dup (p.Glu1065_Ala1066insGluAlaGluGluArgGlu)
c.3242_3259dup (p.Glu1086_Ala1087insGluAlaGluGluArgGlu)
c.3230_3247dup (p.Glu1082_Ala1083insGluAlaGluGluArgGlu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389829T>ACA348699927ZEB2c.*3116A>T (n.*3116A>T)
c.2490A>T (p.Glu830Asp)
c.3267A>T (p.Glu1089Asp)
c.3230+37A>T (n.3230+37A>T)
n.3236A>T
c.2931A>T (p.Glu977Asp)
c.3342A>T (p.Glu1114Asp)
c.*2984A>T (n.*2984A>T)
n.3367A>T
c.151+6583A>T (n.151+6583A>T)
c.487A>T (n.487A>T)
c.798A>T (p.Glu266Asp)
c.3264A>T (p.Glu1088Asp)
c.656-947A>T (n.656-947A>T)
c.3195A>T (p.Glu1065Asp)
c.3258A>T (p.Glu1086Asp)
c.3246A>T (p.Glu1082Asp)
2g.144389829T>CCA429445262ZEB2c.*3116A>G (n.*3116A>G)
c.2490A>G (p.Glu830=)
c.3267A>G (p.Glu1089=)
c.3230+37A>G (n.3230+37A>G)
n.3236A>G
c.2931A>G (p.Glu977=)
c.3342A>G (p.Glu1114=)
c.*2984A>G (n.*2984A>G)
n.3367A>G
c.151+6583A>G (n.151+6583A>G)
c.487A>G (n.487A>G)
c.798A>G (p.Glu266=)
c.3264A>G (p.Glu1088=)
c.656-947A>G (n.656-947A>G)
c.3195A>G (p.Glu1065=)
c.3258A>G (p.Glu1086=)
c.3246A>G (p.Glu1082=)
2g.144389829T>GCA348699928ZEB2c.*3116A>C (n.*3116A>C)
c.2490A>C (p.Glu830Asp)
c.3267A>C (p.Glu1089Asp)
c.3230+37A>C (n.3230+37A>C)
n.3236A>C
c.2931A>C (p.Glu977Asp)
c.3342A>C (p.Glu1114Asp)
c.*2984A>C (n.*2984A>C)
n.3367A>C
c.151+6583A>C (n.151+6583A>C)
c.487A>C (n.487A>C)
c.798A>C (p.Glu266Asp)
c.3264A>C (p.Glu1088Asp)
c.656-947A>C (n.656-947A>C)
c.3195A>C (p.Glu1065Asp)
c.3258A>C (p.Glu1086Asp)
c.3246A>C (p.Glu1082Asp)
 ClinVar dbSNP
2g.144389829T=CA1294881360ZEB2c.*3116A= (n.*3116A=)
c.2490A= (p.Glu830=)
c.3267A= (p.Glu1089=)
c.3230+37A= (n.3230+37A=)
n.3236A=
c.2931A= (p.Glu977=)
c.3342A= (p.Glu1114=)
c.*2984A= (n.*2984A=)
n.3367A=
c.151+6583A= (n.151+6583A=)
c.487A= (n.487A=)
c.798A= (p.Glu266=)
c.3264A= (p.Glu1088=)
c.656-947A= (n.656-947A=)
c.3195A= (p.Glu1065=)
c.3258A= (p.Glu1086=)
c.3246A= (p.Glu1082=)
2g.144389830T>ACA348699934ZEB2c.*3115A>T (n.*3115A>T)
c.2489A>T (p.Glu830Val)
c.3266A>T (p.Glu1089Val)
c.3230+36A>T (n.3230+36A>T)
n.3235A>T
c.2930A>T (p.Glu977Val)
c.3341A>T (p.Glu1114Val)
c.*2983A>T (n.*2983A>T)
n.3366A>T
c.151+6582A>T (n.151+6582A>T)
c.486A>T (n.486A>T)
c.797A>T (p.Glu266Val)
c.3263A>T (p.Glu1088Val)
c.656-948A>T (n.656-948A>T)
c.3194A>T (p.Glu1065Val)
c.3257A>T (p.Glu1086Val)
c.3245A>T (p.Glu1082Val)
2g.144389830T>CCA348699931ZEB2c.*3115A>G (n.*3115A>G)
c.2489A>G (p.Glu830Gly)
c.3266A>G (p.Glu1089Gly)
c.3230+36A>G (n.3230+36A>G)
n.3235A>G
c.2930A>G (p.Glu977Gly)
c.3341A>G (p.Glu1114Gly)
c.*2983A>G (n.*2983A>G)
n.3366A>G
c.151+6582A>G (n.151+6582A>G)
c.486A>G (n.486A>G)
c.797A>G (p.Glu266Gly)
c.3263A>G (p.Glu1088Gly)
c.656-948A>G (n.656-948A>G)
c.3194A>G (p.Glu1065Gly)
c.3257A>G (p.Glu1086Gly)
c.3245A>G (p.Glu1082Gly)
2g.144389830T>GCA348699933ZEB2c.*3115A>C (n.*3115A>C)
c.2489A>C (p.Glu830Ala)
c.3266A>C (p.Glu1089Ala)
c.3230+36A>C (n.3230+36A>C)
n.3235A>C
c.2930A>C (p.Glu977Ala)
c.3341A>C (p.Glu1114Ala)
c.*2983A>C (n.*2983A>C)
n.3366A>C
c.151+6582A>C (n.151+6582A>C)
c.486A>C (n.486A>C)
c.797A>C (p.Glu266Ala)
c.3263A>C (p.Glu1088Ala)
c.656-948A>C (n.656-948A>C)
c.3194A>C (p.Glu1065Ala)
c.3257A>C (p.Glu1086Ala)
c.3245A>C (p.Glu1082Ala)
2g.144389831C>ACA348699936ZEB2c.*3114G>T (n.*3114G>T)
c.2488G>T (p.Glu830Ter)
c.3265G>T (p.Glu1089Ter)
c.3230+35G>T (n.3230+35G>T)
n.3234G>T
c.2929G>T (p.Glu977Ter)
c.3340G>T (p.Glu1114Ter)
c.*2982G>T (n.*2982G>T)
n.3365G>T
c.151+6581G>T (n.151+6581G>T)
c.485G>T (n.485G>T)
c.796G>T (p.Glu266Ter)
c.3262G>T (p.Glu1088Ter)
c.656-949G>T (n.656-949G>T)
c.3193G>T (p.Glu1065Ter)
c.3256G>T (p.Glu1086Ter)
c.3244G>T (p.Glu1082Ter)
2g.144389831C>GCA348699938ZEB2c.*3114G>C (n.*3114G>C)
c.2488G>C (p.Glu830Gln)
c.3265G>C (p.Glu1089Gln)
c.3230+35G>C (n.3230+35G>C)
n.3234G>C
c.2929G>C (p.Glu977Gln)
c.3340G>C (p.Glu1114Gln)
c.*2982G>C (n.*2982G>C)
n.3365G>C
c.151+6581G>C (n.151+6581G>C)
c.485G>C (n.485G>C)
c.796G>C (p.Glu266Gln)
c.3262G>C (p.Glu1088Gln)
c.656-949G>C (n.656-949G>C)
c.3193G>C (p.Glu1065Gln)
c.3256G>C (p.Glu1086Gln)
c.3244G>C (p.Glu1082Gln)
2g.144389831C>TCA348699939ZEB2c.*3114G>A (n.*3114G>A)
c.2488G>A (p.Glu830Lys)
c.3265G>A (p.Glu1089Lys)
c.3230+35G>A (n.3230+35G>A)
n.3234G>A
c.2929G>A (p.Glu977Lys)
c.3340G>A (p.Glu1114Lys)
c.*2982G>A (n.*2982G>A)
n.3365G>A
c.151+6581G>A (n.151+6581G>A)
c.485G>A (n.485G>A)
c.796G>A (p.Glu266Lys)
c.3262G>A (p.Glu1088Lys)
c.656-949G>A (n.656-949G>A)
c.3193G>A (p.Glu1065Lys)
c.3256G>A (p.Glu1086Lys)
c.3244G>A (p.Glu1082Lys)
 COSMIC
2g.144389832C>ACA429445271ZEB2c.*3113G>T (n.*3113G>T)
c.2487G>T (p.Arg829=)
c.3264G>T (p.Arg1088=)
c.3230+34G>T (n.3230+34G>T)
n.3233G>T
c.2928G>T (p.Arg976=)
c.3339G>T (p.Arg1113=)
c.*2981G>T (n.*2981G>T)
n.3364G>T
c.151+6580G>T (n.151+6580G>T)
c.484G>T (n.484G>T)
c.795G>T (p.Arg265=)
c.3261G>T (p.Arg1087=)
c.656-950G>T (n.656-950G>T)
c.3192G>T (p.Arg1064=)
c.3255G>T (p.Arg1085=)
c.3243G>T (p.Arg1081=)
2g.144389832C=CA1294881361ZEB2c.*3113G= (n.*3113G=)
c.2487G= (p.Arg829=)
c.3264G= (p.Arg1088=)
c.3230+34G= (n.3230+34G=)
n.3233G=
c.2928G= (p.Arg976=)
c.3339G= (p.Arg1113=)
c.*2981G= (n.*2981G=)
n.3364G=
c.151+6580G= (n.151+6580G=)
c.484G= (n.484G=)
c.795G= (p.Arg265=)
c.3261G= (p.Arg1087=)
c.656-950G= (n.656-950G=)
c.3192G= (p.Arg1064=)
c.3255G= (p.Arg1085=)
c.3243G= (p.Arg1081=)
2g.144389832C>GCA429445270ZEB2c.*3113G>C (n.*3113G>C)
c.2487G>C (p.Arg829=)
c.3264G>C (p.Arg1088=)
c.3230+34G>C (n.3230+34G>C)
n.3233G>C
c.2928G>C (p.Arg976=)
c.3339G>C (p.Arg1113=)
c.*2981G>C (n.*2981G>C)
n.3364G>C
c.151+6580G>C (n.151+6580G>C)
c.484G>C (n.484G>C)
c.795G>C (p.Arg265=)
c.3261G>C (p.Arg1087=)
c.656-950G>C (n.656-950G>C)
c.3192G>C (p.Arg1064=)
c.3255G>C (p.Arg1085=)
c.3243G>C (p.Arg1081=)
2g.144389832C>TCA1898135ZEB2c.*3113G>A (n.*3113G>A)
c.2487G>A (p.Arg829=)
c.3264G>A (p.Arg1088=)
c.3230+34G>A (n.3230+34G>A)
n.3233G>A
c.2928G>A (p.Arg976=)
c.3339G>A (p.Arg1113=)
c.*2981G>A (n.*2981G>A)
n.3364G>A
c.151+6580G>A (n.151+6580G>A)
c.484G>A (n.484G>A)
c.795G>A (p.Arg265=)
c.3261G>A (p.Arg1087=)
c.656-950G>A (n.656-950G>A)
c.3192G>A (p.Arg1064=)
c.3255G>A (p.Arg1085=)
c.3243G>A (p.Arg1081=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389833C>ACA348699944ZEB2c.*3112G>T (n.*3112G>T)
c.2486G>T (p.Arg829Leu)
c.3263G>T (p.Arg1088Leu)
c.3230+33G>T (n.3230+33G>T)
n.3232G>T
c.2927G>T (p.Arg976Leu)
c.3338G>T (p.Arg1113Leu)
c.*2980G>T (n.*2980G>T)
n.3363G>T
c.151+6579G>T (n.151+6579G>T)
c.483G>T (n.483G>T)
c.794G>T (p.Arg265Leu)
c.3260G>T (p.Arg1087Leu)
c.656-951G>T (n.656-951G>T)
c.3191G>T (p.Arg1064Leu)
c.3254G>T (p.Arg1085Leu)
c.3242G>T (p.Arg1081Leu)
2g.144389833C>GCA348699946ZEB2c.*3112G>C (n.*3112G>C)
c.2486G>C (p.Arg829Pro)
c.3263G>C (p.Arg1088Pro)
c.3230+33G>C (n.3230+33G>C)
n.3232G>C
c.2927G>C (p.Arg976Pro)
c.3338G>C (p.Arg1113Pro)
c.*2980G>C (n.*2980G>C)
n.3363G>C
c.151+6579G>C (n.151+6579G>C)
c.483G>C (n.483G>C)
c.794G>C (p.Arg265Pro)
c.3260G>C (p.Arg1087Pro)
c.656-951G>C (n.656-951G>C)
c.3191G>C (p.Arg1064Pro)
c.3254G>C (p.Arg1085Pro)
c.3242G>C (p.Arg1081Pro)
2g.144389833C>TCA348699949ZEB2c.*3112G>A (n.*3112G>A)
c.2486G>A (p.Arg829Gln)
c.3263G>A (p.Arg1088Gln)
c.3230+33G>A (n.3230+33G>A)
n.3232G>A
c.2927G>A (p.Arg976Gln)
c.3338G>A (p.Arg1113Gln)
c.*2980G>A (n.*2980G>A)
n.3363G>A
c.151+6579G>A (n.151+6579G>A)
c.483G>A (n.483G>A)
c.794G>A (p.Arg265Gln)
c.3260G>A (p.Arg1087Gln)
c.656-951G>A (n.656-951G>A)
c.3191G>A (p.Arg1064Gln)
c.3254G>A (p.Arg1085Gln)
c.3242G>A (p.Arg1081Gln)
2g.144389834G>ACA348699952ZEB2c.*3111C>T (n.*3111C>T)
c.2485C>T (p.Arg829Trp)
c.3262C>T (p.Arg1088Trp)
c.3230+32C>T (n.3230+32C>T)
n.3231C>T
c.2926C>T (p.Arg976Trp)
c.3337C>T (p.Arg1113Trp)
c.*2979C>T (n.*2979C>T)
n.3362C>T
c.151+6578C>T (n.151+6578C>T)
c.482C>T (n.482C>T)
c.793C>T (p.Arg265Trp)
c.3259C>T (p.Arg1087Trp)
c.656-952C>T (n.656-952C>T)
c.3190C>T (p.Arg1064Trp)
c.3253C>T (p.Arg1085Trp)
c.3241C>T (p.Arg1081Trp)
2g.144389834G>CCA348699954ZEB2c.*3111C>G (n.*3111C>G)
c.2485C>G (p.Arg829Gly)
c.3262C>G (p.Arg1088Gly)
c.3230+32C>G (n.3230+32C>G)
n.3231C>G
c.2926C>G (p.Arg976Gly)
c.3337C>G (p.Arg1113Gly)
c.*2979C>G (n.*2979C>G)
n.3362C>G
c.151+6578C>G (n.151+6578C>G)
c.482C>G (n.482C>G)
c.793C>G (p.Arg265Gly)
c.3259C>G (p.Arg1087Gly)
c.656-952C>G (n.656-952C>G)
c.3190C>G (p.Arg1064Gly)
c.3253C>G (p.Arg1085Gly)
c.3241C>G (p.Arg1081Gly)
2g.144389834G=CA1294881362ZEB2c.*3111C= (n.*3111C=)
c.2485C= (p.Arg829=)
c.3262C= (p.Arg1088=)
c.3230+32C= (n.3230+32C=)
n.3231C=
c.2926C= (p.Arg976=)
c.3337C= (p.Arg1113=)
c.*2979C= (n.*2979C=)
n.3362C=
c.151+6578C= (n.151+6578C=)
c.482C= (n.482C=)
c.793C= (p.Arg265=)
c.3259C= (p.Arg1087=)
c.656-952C= (n.656-952C=)
c.3190C= (p.Arg1064=)
c.3253C= (p.Arg1085=)
c.3241C= (p.Arg1081=)
2g.144389834G>TCA429445277ZEB2c.*3111C>A (n.*3111C>A)
c.2485C>A (p.Arg829=)
c.3262C>A (p.Arg1088=)
c.3230+32C>A (n.3230+32C>A)
n.3231C>A
c.2926C>A (p.Arg976=)
c.3337C>A (p.Arg1113=)
c.*2979C>A (n.*2979C>A)
n.3362C>A
c.151+6578C>A (n.151+6578C>A)
c.482C>A (n.482C>A)
c.793C>A (p.Arg265=)
c.3259C>A (p.Arg1087=)
c.656-952C>A (n.656-952C>A)
c.3190C>A (p.Arg1064=)
c.3253C>A (p.Arg1085=)
c.3241C>A (p.Arg1081=)
 dbSNP
2g.144389835C>ACA348699956ZEB2c.*3110G>T (n.*3110G>T)
c.2484G>T (p.Glu828Asp)
c.3261G>T (p.Glu1087Asp)
c.3230+31G>T (n.3230+31G>T)
n.3230G>T
c.2925G>T (p.Glu975Asp)
c.3336G>T (p.Glu1112Asp)
c.*2978G>T (n.*2978G>T)
n.3361G>T
c.151+6577G>T (n.151+6577G>T)
c.481G>T (n.481G>T)
c.792G>T (p.Glu264Asp)
c.3258G>T (p.Glu1086Asp)
c.656-953G>T (n.656-953G>T)
c.3189G>T (p.Glu1063Asp)
c.3252G>T (p.Glu1084Asp)
c.3240G>T (p.Glu1080Asp)
2g.144389835C>GCA348699958ZEB2c.*3110G>C (n.*3110G>C)
c.2484G>C (p.Glu828Asp)
c.3261G>C (p.Glu1087Asp)
c.3230+31G>C (n.3230+31G>C)
n.3230G>C
c.2925G>C (p.Glu975Asp)
c.3336G>C (p.Glu1112Asp)
c.*2978G>C (n.*2978G>C)
n.3361G>C
c.151+6577G>C (n.151+6577G>C)
c.481G>C (n.481G>C)
c.792G>C (p.Glu264Asp)
c.3258G>C (p.Glu1086Asp)
c.656-953G>C (n.656-953G>C)
c.3189G>C (p.Glu1063Asp)
c.3252G>C (p.Glu1084Asp)
c.3240G>C (p.Glu1080Asp)
2g.144389835C>TCA429445278ZEB2c.*3110G>A (n.*3110G>A)
c.2484G>A (p.Glu828=)
c.3261G>A (p.Glu1087=)
c.3230+31G>A (n.3230+31G>A)
n.3230G>A
c.2925G>A (p.Glu975=)
c.3336G>A (p.Glu1112=)
c.*2978G>A (n.*2978G>A)
n.3361G>A
c.151+6577G>A (n.151+6577G>A)
c.481G>A (n.481G>A)
c.792G>A (p.Glu264=)
c.3258G>A (p.Glu1086=)
c.656-953G>A (n.656-953G>A)
c.3189G>A (p.Glu1063=)
c.3252G>A (p.Glu1084=)
c.3240G>A (p.Glu1080=)
 COSMIC
2g.144389836T>ACA348699966ZEB2c.*3109A>T (n.*3109A>T)
c.2483A>T (p.Glu828Val)
c.3260A>T (p.Glu1087Val)
c.3230+30A>T (n.3230+30A>T)
n.3229A>T
c.2924A>T (p.Glu975Val)
c.3335A>T (p.Glu1112Val)
c.*2977A>T (n.*2977A>T)
n.3360A>T
c.151+6576A>T (n.151+6576A>T)
c.480A>T (n.480A>T)
c.791A>T (p.Glu264Val)
c.3257A>T (p.Glu1086Val)
c.656-954A>T (n.656-954A>T)
c.3188A>T (p.Glu1063Val)
c.3251A>T (p.Glu1084Val)
c.3239A>T (p.Glu1080Val)
2g.144389836T>CCA348699964ZEB2c.*3109A>G (n.*3109A>G)
c.2483A>G (p.Glu828Gly)
c.3260A>G (p.Glu1087Gly)
c.3230+30A>G (n.3230+30A>G)
n.3229A>G
c.2924A>G (p.Glu975Gly)
c.3335A>G (p.Glu1112Gly)
c.*2977A>G (n.*2977A>G)
n.3360A>G
c.151+6576A>G (n.151+6576A>G)
c.480A>G (n.480A>G)
c.791A>G (p.Glu264Gly)
c.3257A>G (p.Glu1086Gly)
c.656-954A>G (n.656-954A>G)
c.3188A>G (p.Glu1063Gly)
c.3251A>G (p.Glu1084Gly)
c.3239A>G (p.Glu1080Gly)
 gnomAD v4
2g.144389836T>GCA348699962ZEB2c.*3109A>C (n.*3109A>C)
c.2483A>C (p.Glu828Ala)
c.3260A>C (p.Glu1087Ala)
c.3230+30A>C (n.3230+30A>C)
n.3229A>C
c.2924A>C (p.Glu975Ala)
c.3335A>C (p.Glu1112Ala)
c.*2977A>C (n.*2977A>C)
n.3360A>C
c.151+6576A>C (n.151+6576A>C)
c.480A>C (n.480A>C)
c.791A>C (p.Glu264Ala)
c.3257A>C (p.Glu1086Ala)
c.656-954A>C (n.656-954A>C)
c.3188A>C (p.Glu1063Ala)
c.3251A>C (p.Glu1084Ala)
c.3239A>C (p.Glu1080Ala)
2g.144389837C>ACA348699969ZEB2c.*3108G>T (n.*3108G>T)
c.2482G>T (p.Glu828Ter)
c.3259G>T (p.Glu1087Ter)
c.3230+29G>T (n.3230+29G>T)
n.3228G>T
c.2923G>T (p.Glu975Ter)
c.3334G>T (p.Glu1112Ter)
c.*2976G>T (n.*2976G>T)
n.3359G>T
c.151+6575G>T (n.151+6575G>T)
c.479G>T (n.479G>T)
c.790G>T (p.Glu264Ter)
c.3256G>T (p.Glu1086Ter)
c.656-955G>T (n.656-955G>T)
c.3187G>T (p.Glu1063Ter)
c.3250G>T (p.Glu1084Ter)
c.3238G>T (p.Glu1080Ter)
2g.144389837C>GCA348699973ZEB2c.*3108G>C (n.*3108G>C)
c.2482G>C (p.Glu828Gln)
c.3259G>C (p.Glu1087Gln)
c.3230+29G>C (n.3230+29G>C)
n.3228G>C
c.2923G>C (p.Glu975Gln)
c.3334G>C (p.Glu1112Gln)
c.*2976G>C (n.*2976G>C)
n.3359G>C
c.151+6575G>C (n.151+6575G>C)
c.479G>C (n.479G>C)
c.790G>C (p.Glu264Gln)
c.3256G>C (p.Glu1086Gln)
c.656-955G>C (n.656-955G>C)
c.3187G>C (p.Glu1063Gln)
c.3250G>C (p.Glu1084Gln)
c.3238G>C (p.Glu1080Gln)
2g.144389837C>TCA348699971ZEB2c.*3108G>A (n.*3108G>A)
c.2482G>A (p.Glu828Lys)
c.3259G>A (p.Glu1087Lys)
c.3230+29G>A (n.3230+29G>A)
n.3228G>A
c.2923G>A (p.Glu975Lys)
c.3334G>A (p.Glu1112Lys)
c.*2976G>A (n.*2976G>A)
n.3359G>A
c.151+6575G>A (n.151+6575G>A)
c.479G>A (n.479G>A)
c.790G>A (p.Glu264Lys)
c.3256G>A (p.Glu1086Lys)
c.656-955G>A (n.656-955G>A)
c.3187G>A (p.Glu1063Lys)
c.3250G>A (p.Glu1084Lys)
c.3238G>A (p.Glu1080Lys)
2g.144389838C>ACA348699975ZEB2c.*3107G>T (n.*3107G>T)
c.2481G>T (p.Glu827Asp)
c.3258G>T (p.Glu1086Asp)
c.3230+28G>T (n.3230+28G>T)
n.3227G>T
c.2922G>T (p.Glu974Asp)
c.3333G>T (p.Glu1111Asp)
c.*2975G>T (n.*2975G>T)
n.3358G>T
c.151+6574G>T (n.151+6574G>T)
c.478G>T (n.478G>T)
c.789G>T (p.Glu263Asp)
c.3255G>T (p.Glu1085Asp)
c.656-956G>T (n.656-956G>T)
c.3186G>T (p.Glu1062Asp)
c.3249G>T (p.Glu1083Asp)
c.3237G>T (p.Glu1079Asp)
2g.144389838C=CA1294881363ZEB2c.*3107G= (n.*3107G=)
c.2481G= (p.Glu827=)
c.3258G= (p.Glu1086=)
c.3230+28G= (n.3230+28G=)
n.3227G=
c.2922G= (p.Glu974=)
c.3333G= (p.Glu1111=)
c.*2975G= (n.*2975G=)
n.3358G=
c.151+6574G= (n.151+6574G=)
c.478G= (n.478G=)
c.789G= (p.Glu263=)
c.3255G= (p.Glu1085=)
c.656-956G= (n.656-956G=)
c.3186G= (p.Glu1062=)
c.3249G= (p.Glu1083=)
c.3237G= (p.Glu1079=)
2g.144389838C>GCA348699978ZEB2c.*3107G>C (n.*3107G>C)
c.2481G>C (p.Glu827Asp)
c.3258G>C (p.Glu1086Asp)
c.3230+28G>C (n.3230+28G>C)
n.3227G>C
c.2922G>C (p.Glu974Asp)
c.3333G>C (p.Glu1111Asp)
c.*2975G>C (n.*2975G>C)
n.3358G>C
c.151+6574G>C (n.151+6574G>C)
c.478G>C (n.478G>C)
c.789G>C (p.Glu263Asp)
c.3255G>C (p.Glu1085Asp)
c.656-956G>C (n.656-956G>C)
c.3186G>C (p.Glu1062Asp)
c.3249G>C (p.Glu1083Asp)
c.3237G>C (p.Glu1079Asp)
2g.144389838C>TCA57549513ZEB2c.*3107G>A (n.*3107G>A)
c.2481G>A (p.Glu827=)
c.3258G>A (p.Glu1086=)
c.3230+28G>A (n.3230+28G>A)
n.3227G>A
c.2922G>A (p.Glu974=)
c.3333G>A (p.Glu1111=)
c.*2975G>A (n.*2975G>A)
n.3358G>A
c.151+6574G>A (n.151+6574G>A)
c.478G>A (n.478G>A)
c.789G>A (p.Glu263=)
c.3255G>A (p.Glu1085=)
c.656-956G>A (n.656-956G>A)
c.3186G>A (p.Glu1062=)
c.3249G>A (p.Glu1083=)
c.3237G>A (p.Glu1079=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389839T>ACA348699980ZEB2c.*3106A>T (n.*3106A>T)
c.2480A>T (p.Glu827Val)
c.3257A>T (p.Glu1086Val)
c.3230+27A>T (n.3230+27A>T)
n.3226A>T
c.2921A>T (p.Glu974Val)
c.3332A>T (p.Glu1111Val)
c.*2974A>T (n.*2974A>T)
n.3357A>T
c.151+6573A>T (n.151+6573A>T)
c.477A>T (n.477A>T)
c.788A>T (p.Glu263Val)
c.3254A>T (p.Glu1085Val)
c.656-957A>T (n.656-957A>T)
c.3185A>T (p.Glu1062Val)
c.3248A>T (p.Glu1083Val)
c.3236A>T (p.Glu1079Val)
2g.144389839T>CCA348699982ZEB2c.*3106A>G (n.*3106A>G)
c.2480A>G (p.Glu827Gly)
c.3257A>G (p.Glu1086Gly)
c.3230+27A>G (n.3230+27A>G)
n.3226A>G
c.2921A>G (p.Glu974Gly)
c.3332A>G (p.Glu1111Gly)
c.*2974A>G (n.*2974A>G)
n.3357A>G
c.151+6573A>G (n.151+6573A>G)
c.477A>G (n.477A>G)
c.788A>G (p.Glu263Gly)
c.3254A>G (p.Glu1085Gly)
c.656-957A>G (n.656-957A>G)
c.3185A>G (p.Glu1062Gly)
c.3248A>G (p.Glu1083Gly)
c.3236A>G (p.Glu1079Gly)
2g.144389839T>GCA348699984ZEB2c.*3106A>C (n.*3106A>C)
c.2480A>C (p.Glu827Ala)
c.3257A>C (p.Glu1086Ala)
c.3230+27A>C (n.3230+27A>C)
n.3226A>C
c.2921A>C (p.Glu974Ala)
c.3332A>C (p.Glu1111Ala)
c.*2974A>C (n.*2974A>C)
n.3357A>C
c.151+6573A>C (n.151+6573A>C)
c.477A>C (n.477A>C)
c.788A>C (p.Glu263Ala)
c.3254A>C (p.Glu1085Ala)
c.656-957A>C (n.656-957A>C)
c.3185A>C (p.Glu1062Ala)
c.3248A>C (p.Glu1083Ala)
c.3236A>C (p.Glu1079Ala)
2g.144389840C>ACA348699986ZEB2c.*3105G>T (n.*3105G>T)
c.2479G>T (p.Glu827Ter)
c.3256G>T (p.Glu1086Ter)
c.3230+26G>T (n.3230+26G>T)
n.3225G>T
c.2920G>T (p.Glu974Ter)
c.3331G>T (p.Glu1111Ter)
c.*2973G>T (n.*2973G>T)
n.3356G>T
c.151+6572G>T (n.151+6572G>T)
c.476G>T (n.476G>T)
c.787G>T (p.Glu263Ter)
c.3253G>T (p.Glu1085Ter)
c.656-958G>T (n.656-958G>T)
c.3184G>T (p.Glu1062Ter)
c.3247G>T (p.Glu1083Ter)
c.3235G>T (p.Glu1079Ter)
2g.144389840C>GCA348699987ZEB2c.*3105G>C (n.*3105G>C)
c.2479G>C (p.Glu827Gln)
c.3256G>C (p.Glu1086Gln)
c.3230+26G>C (n.3230+26G>C)
n.3225G>C
c.2920G>C (p.Glu974Gln)
c.3331G>C (p.Glu1111Gln)
c.*2973G>C (n.*2973G>C)
n.3356G>C
c.151+6572G>C (n.151+6572G>C)
c.476G>C (n.476G>C)
c.787G>C (p.Glu263Gln)
c.3253G>C (p.Glu1085Gln)
c.656-958G>C (n.656-958G>C)
c.3184G>C (p.Glu1062Gln)
c.3247G>C (p.Glu1083Gln)
c.3235G>C (p.Glu1079Gln)
 ClinVar
2g.144389840C>TCA348699988ZEB2c.*3105G>A (n.*3105G>A)
c.2479G>A (p.Glu827Lys)
c.3256G>A (p.Glu1086Lys)
c.3230+26G>A (n.3230+26G>A)
n.3225G>A
c.2920G>A (p.Glu974Lys)
c.3331G>A (p.Glu1111Lys)
c.*2973G>A (n.*2973G>A)
n.3356G>A
c.151+6572G>A (n.151+6572G>A)
c.476G>A (n.476G>A)
c.787G>A (p.Glu263Lys)
c.3253G>A (p.Glu1085Lys)
c.656-958G>A (n.656-958G>A)
c.3184G>A (p.Glu1062Lys)
c.3247G>A (p.Glu1083Lys)
c.3235G>A (p.Glu1079Lys)
2g.144389841C>ACA429445283ZEB2c.*3104G>T (n.*3104G>T)
c.2478G>T (p.Ala826=)
c.3255G>T (p.Ala1085=)
c.3230+25G>T (n.3230+25G>T)
n.3224G>T
c.2919G>T (p.Ala973=)
c.3330G>T (p.Ala1110=)
c.*2972G>T (n.*2972G>T)
n.3355G>T
c.151+6571G>T (n.151+6571G>T)
c.475G>T (n.475G>T)
c.786G>T (p.Ala262=)
c.3252G>T (p.Ala1084=)
c.656-959G>T (n.656-959G>T)
c.3183G>T (p.Ala1061=)
c.3246G>T (p.Ala1082=)
c.3234G>T (p.Ala1078=)
2g.144389841C=CA1294881364ZEB2c.*3104G= (n.*3104G=)
c.2478G= (p.Ala826=)
c.3255G= (p.Ala1085=)
c.3230+25G= (n.3230+25G=)
n.3224G=
c.2919G= (p.Ala973=)
c.3330G= (p.Ala1110=)
c.*2972G= (n.*2972G=)
n.3355G=
c.151+6571G= (n.151+6571G=)
c.475G= (n.475G=)
c.786G= (p.Ala262=)
c.3252G= (p.Ala1084=)
c.656-959G= (n.656-959G=)
c.3183G= (p.Ala1061=)
c.3246G= (p.Ala1082=)
c.3234G= (p.Ala1078=)
2g.144389841C>GCA429445285ZEB2c.*3104G>C (n.*3104G>C)
c.2478G>C (p.Ala826=)
c.3255G>C (p.Ala1085=)
c.3230+25G>C (n.3230+25G>C)
n.3224G>C
c.2919G>C (p.Ala973=)
c.3330G>C (p.Ala1110=)
c.*2972G>C (n.*2972G>C)
n.3355G>C
c.151+6571G>C (n.151+6571G>C)
c.475G>C (n.475G>C)
c.786G>C (p.Ala262=)
c.3252G>C (p.Ala1084=)
c.656-959G>C (n.656-959G>C)
c.3183G>C (p.Ala1061=)
c.3246G>C (p.Ala1082=)
c.3234G>C (p.Ala1078=)
2g.144389841C>TCA429445288ZEB2c.*3104G>A (n.*3104G>A)
c.2478G>A (p.Ala826=)
c.3255G>A (p.Ala1085=)
c.3230+25G>A (n.3230+25G>A)
n.3224G>A
c.2919G>A (p.Ala973=)
c.3330G>A (p.Ala1110=)
c.*2972G>A (n.*2972G>A)
n.3355G>A
c.151+6571G>A (n.151+6571G>A)
c.475G>A (n.475G>A)
c.786G>A (p.Ala262=)
c.3252G>A (p.Ala1084=)
c.656-959G>A (n.656-959G>A)
c.3183G>A (p.Ala1061=)
c.3246G>A (p.Ala1082=)
c.3234G>A (p.Ala1078=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389842G>ACA348699990ZEB2c.*3103C>T (n.*3103C>T)
c.2477C>T (p.Ala826Val)
c.3254C>T (p.Ala1085Val)
c.3230+24C>T (n.3230+24C>T)
n.3223C>T
c.2918C>T (p.Ala973Val)
c.3329C>T (p.Ala1110Val)
c.*2971C>T (n.*2971C>T)
n.3354C>T
c.151+6570C>T (n.151+6570C>T)
c.474C>T (n.474C>T)
c.785C>T (p.Ala262Val)
c.3251C>T (p.Ala1084Val)
c.656-960C>T (n.656-960C>T)
c.3182C>T (p.Ala1061Val)
c.3245C>T (p.Ala1082Val)
c.3233C>T (p.Ala1078Val)
2g.144389842G>CCA348699991ZEB2c.*3103C>G (n.*3103C>G)
c.2477C>G (p.Ala826Gly)
c.3254C>G (p.Ala1085Gly)
c.3230+24C>G (n.3230+24C>G)
n.3223C>G
c.2918C>G (p.Ala973Gly)
c.3329C>G (p.Ala1110Gly)
c.*2971C>G (n.*2971C>G)
n.3354C>G
c.151+6570C>G (n.151+6570C>G)
c.474C>G (n.474C>G)
c.785C>G (p.Ala262Gly)
c.3251C>G (p.Ala1084Gly)
c.656-960C>G (n.656-960C>G)
c.3182C>G (p.Ala1061Gly)
c.3245C>G (p.Ala1082Gly)
c.3233C>G (p.Ala1078Gly)
2g.144389842G>TCA348699993ZEB2c.*3103C>A (n.*3103C>A)
c.2477C>A (p.Ala826Glu)
c.3254C>A (p.Ala1085Glu)
c.3230+24C>A (n.3230+24C>A)
n.3223C>A
c.2918C>A (p.Ala973Glu)
c.3329C>A (p.Ala1110Glu)
c.*2971C>A (n.*2971C>A)
n.3354C>A
c.151+6570C>A (n.151+6570C>A)
c.474C>A (n.474C>A)
c.785C>A (p.Ala262Glu)
c.3251C>A (p.Ala1084Glu)
c.656-960C>A (n.656-960C>A)
c.3182C>A (p.Ala1061Glu)
c.3245C>A (p.Ala1082Glu)
c.3233C>A (p.Ala1078Glu)
2g.144389843C>ACA348700001ZEB2c.*3102G>T (n.*3102G>T)
c.2476G>T (p.Ala826Ser)
c.3253G>T (p.Ala1085Ser)
c.3230+23G>T (n.3230+23G>T)
n.3222G>T
c.2917G>T (p.Ala973Ser)
c.3328G>T (p.Ala1110Ser)
c.*2970G>T (n.*2970G>T)
n.3353G>T
c.151+6569G>T (n.151+6569G>T)
c.473G>T (n.473G>T)
c.784G>T (p.Ala262Ser)
c.3250G>T (p.Ala1084Ser)
c.656-961G>T (n.656-961G>T)
c.3181G>T (p.Ala1061Ser)
c.3244G>T (p.Ala1082Ser)
c.3232G>T (p.Ala1078Ser)
2g.144389843C>GCA348699995ZEB2c.*3102G>C (n.*3102G>C)
c.2476G>C (p.Ala826Pro)
c.3253G>C (p.Ala1085Pro)
c.3230+23G>C (n.3230+23G>C)
n.3222G>C
c.2917G>C (p.Ala973Pro)
c.3328G>C (p.Ala1110Pro)
c.*2970G>C (n.*2970G>C)
n.3353G>C
c.151+6569G>C (n.151+6569G>C)
c.473G>C (n.473G>C)
c.784G>C (p.Ala262Pro)
c.3250G>C (p.Ala1084Pro)
c.656-961G>C (n.656-961G>C)
c.3181G>C (p.Ala1061Pro)
c.3244G>C (p.Ala1082Pro)
c.3232G>C (p.Ala1078Pro)
2g.144389843C>TCA348699997ZEB2c.*3102G>A (n.*3102G>A)
c.2476G>A (p.Ala826Thr)
c.3253G>A (p.Ala1085Thr)
c.3230+23G>A (n.3230+23G>A)
n.3222G>A
c.2917G>A (p.Ala973Thr)
c.3328G>A (p.Ala1110Thr)
c.*2970G>A (n.*2970G>A)
n.3353G>A
c.151+6569G>A (n.151+6569G>A)
c.473G>A (n.473G>A)
c.784G>A (p.Ala262Thr)
c.3250G>A (p.Ala1084Thr)
c.656-961G>A (n.656-961G>A)
c.3181G>A (p.Ala1061Thr)
c.3244G>A (p.Ala1082Thr)
c.3232G>A (p.Ala1078Thr)
2g.144389844C>ACA348700004ZEB2c.*3101G>T (n.*3101G>T)
c.2475G>T (p.Glu825Asp)
c.3252G>T (p.Glu1084Asp)
c.3230+22G>T (n.3230+22G>T)
n.3221G>T
c.2916G>T (p.Glu972Asp)
c.3327G>T (p.Glu1109Asp)
c.*2969G>T (n.*2969G>T)
n.3352G>T
c.151+6568G>T (n.151+6568G>T)
c.472G>T (n.472G>T)
c.783G>T (p.Glu261Asp)
c.3249G>T (p.Glu1083Asp)
c.656-962G>T (n.656-962G>T)
c.3180G>T (p.Glu1060Asp)
c.3243G>T (p.Glu1081Asp)
c.3231G>T (p.Glu1077Asp)
 gnomAD v4
2g.144389844C>GCA348700006ZEB2c.*3101G>C (n.*3101G>C)
c.2475G>C (p.Glu825Asp)
c.3252G>C (p.Glu1084Asp)
c.3230+22G>C (n.3230+22G>C)
n.3221G>C
c.2916G>C (p.Glu972Asp)
c.3327G>C (p.Glu1109Asp)
c.*2969G>C (n.*2969G>C)
n.3352G>C
c.151+6568G>C (n.151+6568G>C)
c.472G>C (n.472G>C)
c.783G>C (p.Glu261Asp)
c.3249G>C (p.Glu1083Asp)
c.656-962G>C (n.656-962G>C)
c.3180G>C (p.Glu1060Asp)
c.3243G>C (p.Glu1081Asp)
c.3231G>C (p.Glu1077Asp)
2g.144389844C>TCA429445289ZEB2c.*3101G>A (n.*3101G>A)
c.2475G>A (p.Glu825=)
c.3252G>A (p.Glu1084=)
c.3230+22G>A (n.3230+22G>A)
n.3221G>A
c.2916G>A (p.Glu972=)
c.3327G>A (p.Glu1109=)
c.*2969G>A (n.*2969G>A)
n.3352G>A
c.151+6568G>A (n.151+6568G>A)
c.472G>A (n.472G>A)
c.783G>A (p.Glu261=)
c.3249G>A (p.Glu1083=)
c.656-962G>A (n.656-962G>A)
c.3180G>A (p.Glu1060=)
c.3243G>A (p.Glu1081=)
c.3231G>A (p.Glu1077=)
2g.144389845T>ACA348700009ZEB2c.*3100A>T (n.*3100A>T)
c.2474A>T (p.Glu825Val)
c.3251A>T (p.Glu1084Val)
c.3230+21A>T (n.3230+21A>T)
n.3220A>T
c.2915A>T (p.Glu972Val)
c.3326A>T (p.Glu1109Val)
c.*2968A>T (n.*2968A>T)
n.3351A>T
c.151+6567A>T (n.151+6567A>T)
c.471A>T (n.471A>T)
c.782A>T (p.Glu261Val)
c.3248A>T (p.Glu1083Val)
c.656-963A>T (n.656-963A>T)
c.3179A>T (p.Glu1060Val)
c.3242A>T (p.Glu1081Val)
c.3230A>T (p.Glu1077Val)
2g.144389845T>CCA348700011ZEB2c.*3100A>G (n.*3100A>G)
c.2474A>G (p.Glu825Gly)
c.3251A>G (p.Glu1084Gly)
c.3230+21A>G (n.3230+21A>G)
n.3220A>G
c.2915A>G (p.Glu972Gly)
c.3326A>G (p.Glu1109Gly)
c.*2968A>G (n.*2968A>G)
n.3351A>G
c.151+6567A>G (n.151+6567A>G)
c.471A>G (n.471A>G)
c.782A>G (p.Glu261Gly)
c.3248A>G (p.Glu1083Gly)
c.656-963A>G (n.656-963A>G)
c.3179A>G (p.Glu1060Gly)
c.3242A>G (p.Glu1081Gly)
c.3230A>G (p.Glu1077Gly)
2g.144389845T>GCA348700013ZEB2c.*3100A>C (n.*3100A>C)
c.2474A>C (p.Glu825Ala)
c.3251A>C (p.Glu1084Ala)
c.3230+21A>C (n.3230+21A>C)
n.3220A>C
c.2915A>C (p.Glu972Ala)
c.3326A>C (p.Glu1109Ala)
c.*2968A>C (n.*2968A>C)
n.3351A>C
c.151+6567A>C (n.151+6567A>C)
c.471A>C (n.471A>C)
c.782A>C (p.Glu261Ala)
c.3248A>C (p.Glu1083Ala)
c.656-963A>C (n.656-963A>C)
c.3179A>C (p.Glu1060Ala)
c.3242A>C (p.Glu1081Ala)
c.3230A>C (p.Glu1077Ala)
2g.144389846C>ACA348700014ZEB2c.*3099G>T (n.*3099G>T)
c.2473G>T (p.Glu825Ter)
c.3250G>T (p.Glu1084Ter)
c.3230+20G>T (n.3230+20G>T)
n.3219G>T
c.2914G>T (p.Glu972Ter)
c.3325G>T (p.Glu1109Ter)
c.*2967G>T (n.*2967G>T)
n.3350G>T
c.151+6566G>T (n.151+6566G>T)
c.470G>T (n.470G>T)
c.781G>T (p.Glu261Ter)
c.3247G>T (p.Glu1083Ter)
c.656-964G>T (n.656-964G>T)
c.3178G>T (p.Glu1060Ter)
c.3241G>T (p.Glu1081Ter)
c.3229G>T (p.Glu1077Ter)
2g.144389846C>GCA348700016ZEB2c.*3099G>C (n.*3099G>C)
c.2473G>C (p.Glu825Gln)
c.3250G>C (p.Glu1084Gln)
c.3230+20G>C (n.3230+20G>C)
n.3219G>C
c.2914G>C (p.Glu972Gln)
c.3325G>C (p.Glu1109Gln)
c.*2967G>C (n.*2967G>C)
n.3350G>C
c.151+6566G>C (n.151+6566G>C)
c.470G>C (n.470G>C)
c.781G>C (p.Glu261Gln)
c.3247G>C (p.Glu1083Gln)
c.656-964G>C (n.656-964G>C)
c.3178G>C (p.Glu1060Gln)
c.3241G>C (p.Glu1081Gln)
c.3229G>C (p.Glu1077Gln)
2g.144389846C>TCA348700017ZEB2c.*3099G>A (n.*3099G>A)
c.2473G>A (p.Glu825Lys)
c.3250G>A (p.Glu1084Lys)
c.3230+20G>A (n.3230+20G>A)
n.3219G>A
c.2914G>A (p.Glu972Lys)
c.3325G>A (p.Glu1109Lys)
c.*2967G>A (n.*2967G>A)
n.3350G>A
c.151+6566G>A (n.151+6566G>A)
c.470G>A (n.470G>A)
c.781G>A (p.Glu261Lys)
c.3247G>A (p.Glu1083Lys)
c.656-964G>A (n.656-964G>A)
c.3178G>A (p.Glu1060Lys)
c.3241G>A (p.Glu1081Lys)
c.3229G>A (p.Glu1077Lys)
2g.144389847C>ACA429445295ZEB2c.*3098G>T (n.*3098G>T)
c.2472G>T (p.Arg824=)
c.3249G>T (p.Arg1083=)
c.3230+19G>T (n.3230+19G>T)
n.3218G>T
c.2913G>T (p.Arg971=)
c.3324G>T (p.Arg1108=)
c.*2966G>T (n.*2966G>T)
n.3349G>T
c.151+6565G>T (n.151+6565G>T)
c.469G>T (n.469G>T)
c.780G>T (p.Arg260=)
c.3246G>T (p.Arg1082=)
c.656-965G>T (n.656-965G>T)
c.3177G>T (p.Arg1059=)
c.3240G>T (p.Arg1080=)
c.3228G>T (p.Arg1076=)
2g.144389847C=CA1294881365ZEB2c.*3098G= (n.*3098G=)
c.2472G= (p.Arg824=)
c.3249G= (p.Arg1083=)
c.3230+19G= (n.3230+19G=)
n.3218G=
c.2913G= (p.Arg971=)
c.3324G= (p.Arg1108=)
c.*2966G= (n.*2966G=)
n.3349G=
c.151+6565G= (n.151+6565G=)
c.469G= (n.469G=)
c.780G= (p.Arg260=)
c.3246G= (p.Arg1082=)
c.656-965G= (n.656-965G=)
c.3177G= (p.Arg1059=)
c.3240G= (p.Arg1080=)
c.3228G= (p.Arg1076=)
2g.144389847C>GCA429445296ZEB2c.*3098G>C (n.*3098G>C)
c.2472G>C (p.Arg824=)
c.3249G>C (p.Arg1083=)
c.3230+19G>C (n.3230+19G>C)
n.3218G>C
c.2913G>C (p.Arg971=)
c.3324G>C (p.Arg1108=)
c.*2966G>C (n.*2966G>C)
n.3349G>C
c.151+6565G>C (n.151+6565G>C)
c.469G>C (n.469G>C)
c.780G>C (p.Arg260=)
c.3246G>C (p.Arg1082=)
c.656-965G>C (n.656-965G>C)
c.3177G>C (p.Arg1059=)
c.3240G>C (p.Arg1080=)
c.3228G>C (p.Arg1076=)
2g.144389847C>TCA429445297ZEB2c.*3098G>A (n.*3098G>A)
c.2472G>A (p.Arg824=)
c.3249G>A (p.Arg1083=)
c.3230+19G>A (n.3230+19G>A)
n.3218G>A
c.2913G>A (p.Arg971=)
c.3324G>A (p.Arg1108=)
c.*2966G>A (n.*2966G>A)
n.3349G>A
c.151+6565G>A (n.151+6565G>A)
c.469G>A (n.469G>A)
c.780G>A (p.Arg260=)
c.3246G>A (p.Arg1082=)
c.656-965G>A (n.656-965G>A)
c.3177G>A (p.Arg1059=)
c.3240G>A (p.Arg1080=)
c.3228G>A (p.Arg1076=)
 dbSNP
2g.144389848C>ACA348700018ZEB2c.*3097G>T (n.*3097G>T)
c.2471G>T (p.Arg824Leu)
c.3248G>T (p.Arg1083Leu)
c.3230+18G>T (n.3230+18G>T)
n.3217G>T
c.2912G>T (p.Arg971Leu)
c.3323G>T (p.Arg1108Leu)
c.*2965G>T (n.*2965G>T)
n.3348G>T
c.151+6564G>T (n.151+6564G>T)
c.468G>T (n.468G>T)
c.779G>T (p.Arg260Leu)
c.3245G>T (p.Arg1082Leu)
c.656-966G>T (n.656-966G>T)
c.3176G>T (p.Arg1059Leu)
c.3239G>T (p.Arg1080Leu)
c.3227G>T (p.Arg1076Leu)
2g.144389848C>GCA348700019ZEB2c.*3097G>C (n.*3097G>C)
c.2471G>C (p.Arg824Pro)
c.3248G>C (p.Arg1083Pro)
c.3230+18G>C (n.3230+18G>C)
n.3217G>C
c.2912G>C (p.Arg971Pro)
c.3323G>C (p.Arg1108Pro)
c.*2965G>C (n.*2965G>C)
n.3348G>C
c.151+6564G>C (n.151+6564G>C)
c.468G>C (n.468G>C)
c.779G>C (p.Arg260Pro)
c.3245G>C (p.Arg1082Pro)
c.656-966G>C (n.656-966G>C)
c.3176G>C (p.Arg1059Pro)
c.3239G>C (p.Arg1080Pro)
c.3227G>C (p.Arg1076Pro)
2g.144389848C>TCA348700020ZEB2c.*3097G>A (n.*3097G>A)
c.2471G>A (p.Arg824Gln)
c.3248G>A (p.Arg1083Gln)
c.3230+18G>A (n.3230+18G>A)
n.3217G>A
c.2912G>A (p.Arg971Gln)
c.3323G>A (p.Arg1108Gln)
c.*2965G>A (n.*2965G>A)
n.3348G>A
c.151+6564G>A (n.151+6564G>A)
c.468G>A (n.468G>A)
c.779G>A (p.Arg260Gln)
c.3245G>A (p.Arg1082Gln)
c.656-966G>A (n.656-966G>A)
c.3176G>A (p.Arg1059Gln)
c.3239G>A (p.Arg1080Gln)
c.3227G>A (p.Arg1076Gln)
2g.144389849G>ACA348700022ZEB2c.*3096C>T (n.*3096C>T)
c.2470C>T (p.Arg824Trp)
c.3247C>T (p.Arg1083Trp)
c.3230+17C>T (n.3230+17C>T)
n.3216C>T
c.2911C>T (p.Arg971Trp)
c.3322C>T (p.Arg1108Trp)
c.*2964C>T (n.*2964C>T)
n.3347C>T
c.151+6563C>T (n.151+6563C>T)
c.467C>T (n.467C>T)
c.778C>T (p.Arg260Trp)
c.3244C>T (p.Arg1082Trp)
c.656-967C>T (n.656-967C>T)
c.3175C>T (p.Arg1059Trp)
c.3238C>T (p.Arg1080Trp)
c.3226C>T (p.Arg1076Trp)
2g.144389849G>CCA348700024ZEB2c.*3096C>G (n.*3096C>G)
c.2470C>G (p.Arg824Gly)
c.3247C>G (p.Arg1083Gly)
c.3230+17C>G (n.3230+17C>G)
n.3216C>G
c.2911C>G (p.Arg971Gly)
c.3322C>G (p.Arg1108Gly)
c.*2964C>G (n.*2964C>G)
n.3347C>G
c.151+6563C>G (n.151+6563C>G)
c.467C>G (n.467C>G)
c.778C>G (p.Arg260Gly)
c.3244C>G (p.Arg1082Gly)
c.656-967C>G (n.656-967C>G)
c.3175C>G (p.Arg1059Gly)
c.3238C>G (p.Arg1080Gly)
c.3226C>G (p.Arg1076Gly)
2g.144389849G=CA1294881366ZEB2c.*3096C= (n.*3096C=)
c.2470C= (p.Arg824=)
c.3247C= (p.Arg1083=)
c.3230+17C= (n.3230+17C=)
n.3216C=
c.2911C= (p.Arg971=)
c.3322C= (p.Arg1108=)
c.*2964C= (n.*2964C=)
n.3347C=
c.151+6563C= (n.151+6563C=)
c.467C= (n.467C=)
c.778C= (p.Arg260=)
c.3244C= (p.Arg1082=)
c.656-967C= (n.656-967C=)
c.3175C= (p.Arg1059=)
c.3238C= (p.Arg1080=)
c.3226C= (p.Arg1076=)
2g.144389849G>TCA1898136ZEB2c.*3096C>A (n.*3096C>A)
c.2470C>A (p.Arg824=)
c.3247C>A (p.Arg1083=)
c.3230+17C>A (n.3230+17C>A)
n.3216C>A
c.2911C>A (p.Arg971=)
c.3322C>A (p.Arg1108=)
c.*2964C>A (n.*2964C>A)
n.3347C>A
c.151+6563C>A (n.151+6563C>A)
c.467C>A (n.467C>A)
c.778C>A (p.Arg260=)
c.3244C>A (p.Arg1082=)
c.656-967C>A (n.656-967C>A)
c.3175C>A (p.Arg1059=)
c.3238C>A (p.Arg1080=)
c.3226C>A (p.Arg1076=)
 dbSNP ExAC gnomAD v2
2g.144389850C>ACA348700026ZEB2c.*3095G>T (n.*3095G>T)
c.2469G>T (p.Lys823Asn)
c.3246G>T (p.Lys1082Asn)
c.3230+16G>T (n.3230+16G>T)
n.3215G>T
c.2910G>T (p.Lys970Asn)
c.3321G>T (p.Lys1107Asn)
c.*2963G>T (n.*2963G>T)
n.3346G>T
c.151+6562G>T (n.151+6562G>T)
c.466G>T (n.466G>T)
c.777G>T (p.Lys259Asn)
c.3243G>T (p.Lys1081Asn)
c.656-968G>T (n.656-968G>T)
c.3174G>T (p.Lys1058Asn)
c.3237G>T (p.Lys1079Asn)
c.3225G>T (p.Lys1075Asn)
2g.144389850C>GCA348700027ZEB2c.*3095G>C (n.*3095G>C)
c.2469G>C (p.Lys823Asn)
c.3246G>C (p.Lys1082Asn)
c.3230+16G>C (n.3230+16G>C)
n.3215G>C
c.2910G>C (p.Lys970Asn)
c.3321G>C (p.Lys1107Asn)
c.*2963G>C (n.*2963G>C)
n.3346G>C
c.151+6562G>C (n.151+6562G>C)
c.466G>C (n.466G>C)
c.777G>C (p.Lys259Asn)
c.3243G>C (p.Lys1081Asn)
c.656-968G>C (n.656-968G>C)
c.3174G>C (p.Lys1058Asn)
c.3237G>C (p.Lys1079Asn)
c.3225G>C (p.Lys1075Asn)
2g.144389850C>TCA429445306ZEB2c.*3095G>A (n.*3095G>A)
c.2469G>A (p.Lys823=)
c.3246G>A (p.Lys1082=)
c.3230+16G>A (n.3230+16G>A)
n.3215G>A
c.2910G>A (p.Lys970=)
c.3321G>A (p.Lys1107=)
c.*2963G>A (n.*2963G>A)
n.3346G>A
c.151+6562G>A (n.151+6562G>A)
c.466G>A (n.466G>A)
c.777G>A (p.Lys259=)
c.3243G>A (p.Lys1081=)
c.656-968G>A (n.656-968G>A)
c.3174G>A (p.Lys1058=)
c.3237G>A (p.Lys1079=)
c.3225G>A (p.Lys1075=)
2g.144389851T>ACA348700031ZEB2c.*3094A>T (n.*3094A>T)
c.2468A>T (p.Lys823Met)
c.3245A>T (p.Lys1082Met)
c.3230+15A>T (n.3230+15A>T)
n.3214A>T
c.2909A>T (p.Lys970Met)
c.3320A>T (p.Lys1107Met)
c.*2962A>T (n.*2962A>T)
n.3345A>T
c.151+6561A>T (n.151+6561A>T)
c.465A>T (n.465A>T)
c.776A>T (p.Lys259Met)
c.3242A>T (p.Lys1081Met)
c.656-969A>T (n.656-969A>T)
c.3173A>T (p.Lys1058Met)
c.3236A>T (p.Lys1079Met)
c.3224A>T (p.Lys1075Met)
2g.144389851T>CCA348700032ZEB2c.*3094A>G (n.*3094A>G)
c.2468A>G (p.Lys823Arg)
c.3245A>G (p.Lys1082Arg)
c.3230+15A>G (n.3230+15A>G)
n.3214A>G
c.2909A>G (p.Lys970Arg)
c.3320A>G (p.Lys1107Arg)
c.*2962A>G (n.*2962A>G)
n.3345A>G
c.151+6561A>G (n.151+6561A>G)
c.465A>G (n.465A>G)
c.776A>G (p.Lys259Arg)
c.3242A>G (p.Lys1081Arg)
c.656-969A>G (n.656-969A>G)
c.3173A>G (p.Lys1058Arg)
c.3236A>G (p.Lys1079Arg)
c.3224A>G (p.Lys1075Arg)
2g.144389851T>GCA348700034ZEB2c.*3094A>C (n.*3094A>C)
c.2468A>C (p.Lys823Thr)
c.3245A>C (p.Lys1082Thr)
c.3230+15A>C (n.3230+15A>C)
n.3214A>C
c.2909A>C (p.Lys970Thr)
c.3320A>C (p.Lys1107Thr)
c.*2962A>C (n.*2962A>C)
n.3345A>C
c.151+6561A>C (n.151+6561A>C)
c.465A>C (n.465A>C)
c.776A>C (p.Lys259Thr)
c.3242A>C (p.Lys1081Thr)
c.656-969A>C (n.656-969A>C)
c.3173A>C (p.Lys1058Thr)
c.3236A>C (p.Lys1079Thr)
c.3224A>C (p.Lys1075Thr)
2g.144389852T>ACA348700037ZEB2c.*3093A>T (n.*3093A>T)
c.2467A>T (p.Lys823Ter)
c.3244A>T (p.Lys1082Ter)
c.3230+14A>T (n.3230+14A>T)
n.3213A>T
c.2908A>T (p.Lys970Ter)
c.3319A>T (p.Lys1107Ter)
c.*2961A>T (n.*2961A>T)
n.3344A>T
c.151+6560A>T (n.151+6560A>T)
c.464A>T (n.464A>T)
c.775A>T (p.Lys259Ter)
c.3241A>T (p.Lys1081Ter)
c.656-970A>T (n.656-970A>T)
c.3172A>T (p.Lys1058Ter)
c.3235A>T (p.Lys1079Ter)
c.3223A>T (p.Lys1075Ter)
2g.144389852T>CCA348700039ZEB2c.*3093A>G (n.*3093A>G)
c.2467A>G (p.Lys823Glu)
c.3244A>G (p.Lys1082Glu)
c.3230+14A>G (n.3230+14A>G)
n.3213A>G
c.2908A>G (p.Lys970Glu)
c.3319A>G (p.Lys1107Glu)
c.*2961A>G (n.*2961A>G)
n.3344A>G
c.151+6560A>G (n.151+6560A>G)
c.464A>G (n.464A>G)
c.775A>G (p.Lys259Glu)
c.3241A>G (p.Lys1081Glu)
c.656-970A>G (n.656-970A>G)
c.3172A>G (p.Lys1058Glu)
c.3235A>G (p.Lys1079Glu)
c.3223A>G (p.Lys1075Glu)
2g.144389852T>GCA348700041ZEB2c.*3093A>C (n.*3093A>C)
c.2467A>C (p.Lys823Gln)
c.3244A>C (p.Lys1082Gln)
c.3230+14A>C (n.3230+14A>C)
n.3213A>C
c.2908A>C (p.Lys970Gln)
c.3319A>C (p.Lys1107Gln)
c.*2961A>C (n.*2961A>C)
n.3344A>C
c.151+6560A>C (n.151+6560A>C)
c.464A>C (n.464A>C)
c.775A>C (p.Lys259Gln)
c.3241A>C (p.Lys1081Gln)
c.656-970A>C (n.656-970A>C)
c.3172A>C (p.Lys1058Gln)
c.3235A>C (p.Lys1079Gln)
c.3223A>C (p.Lys1075Gln)
2g.144389853G>ACA429445310ZEB2c.*3092C>T (n.*3092C>T)
c.2466C>T (p.Cys822=)
c.3243C>T (p.Cys1081=)
c.3230+13C>T (n.3230+13C>T)
n.3212C>T
c.2907C>T (p.Cys969=)
c.3318C>T (p.Cys1106=)
c.*2960C>T (n.*2960C>T)
n.3343C>T
c.151+6559C>T (n.151+6559C>T)
c.463C>T (n.463C>T)
c.774C>T (p.Cys258=)
c.3240C>T (p.Cys1080=)
c.656-971C>T (n.656-971C>T)
c.3171C>T (p.Cys1057=)
c.3234C>T (p.Cys1078=)
c.3222C>T (p.Cys1074=)
 gnomAD v4
2g.144389853G>CCA348700043ZEB2c.*3092C>G (n.*3092C>G)
c.2466C>G (p.Cys822Trp)
c.3243C>G (p.Cys1081Trp)
c.3230+13C>G (n.3230+13C>G)
n.3212C>G
c.2907C>G (p.Cys969Trp)
c.3318C>G (p.Cys1106Trp)
c.*2960C>G (n.*2960C>G)
n.3343C>G
c.151+6559C>G (n.151+6559C>G)
c.463C>G (n.463C>G)
c.774C>G (p.Cys258Trp)
c.3240C>G (p.Cys1080Trp)
c.656-971C>G (n.656-971C>G)
c.3171C>G (p.Cys1057Trp)
c.3234C>G (p.Cys1078Trp)
c.3222C>G (p.Cys1074Trp)
2g.144389853G=CA1294881367ZEB2c.*3092C= (n.*3092C=)
c.2466C= (p.Cys822=)
c.3243C= (p.Cys1081=)
c.3230+13C= (n.3230+13C=)
n.3212C=
c.2907C= (p.Cys969=)
c.3318C= (p.Cys1106=)
c.*2960C= (n.*2960C=)
n.3343C=
c.151+6559C= (n.151+6559C=)
c.463C= (n.463C=)
c.774C= (p.Cys258=)
c.3240C= (p.Cys1080=)
c.656-971C= (n.656-971C=)
c.3171C= (p.Cys1057=)
c.3234C= (p.Cys1078=)
c.3222C= (p.Cys1074=)
2g.144389853G>TCA348700045ZEB2c.*3092C>A (n.*3092C>A)
c.2466C>A (p.Cys822Ter)
c.3243C>A (p.Cys1081Ter)
c.3230+13C>A (n.3230+13C>A)
n.3212C>A
c.2907C>A (p.Cys969Ter)
c.3318C>A (p.Cys1106Ter)
c.*2960C>A (n.*2960C>A)
n.3343C>A
c.151+6559C>A (n.151+6559C>A)
c.463C>A (n.463C>A)
c.774C>A (p.Cys258Ter)
c.3240C>A (p.Cys1080Ter)
c.656-971C>A (n.656-971C>A)
c.3171C>A (p.Cys1057Ter)
c.3234C>A (p.Cys1078Ter)
c.3222C>A (p.Cys1074Ter)
 ClinVar dbSNP
2g.144389854C>ACA348700047ZEB2c.*3091G>T (n.*3091G>T)
c.2465G>T (p.Cys822Phe)
c.3242G>T (p.Cys1081Phe)
c.3230+12G>T (n.3230+12G>T)
n.3211G>T
c.2906G>T (p.Cys969Phe)
c.3317G>T (p.Cys1106Phe)
c.*2959G>T (n.*2959G>T)
n.3342G>T
c.151+6558G>T (n.151+6558G>T)
c.462G>T (n.462G>T)
c.773G>T (p.Cys258Phe)
c.3239G>T (p.Cys1080Phe)
c.656-972G>T (n.656-972G>T)
c.3170G>T (p.Cys1057Phe)
c.3233G>T (p.Cys1078Phe)
c.3221G>T (p.Cys1074Phe)
2g.144389854C>GCA348700049ZEB2c.*3091G>C (n.*3091G>C)
c.2465G>C (p.Cys822Ser)
c.3242G>C (p.Cys1081Ser)
c.3230+12G>C (n.3230+12G>C)
n.3211G>C
c.2906G>C (p.Cys969Ser)
c.3317G>C (p.Cys1106Ser)
c.*2959G>C (n.*2959G>C)
n.3342G>C
c.151+6558G>C (n.151+6558G>C)
c.462G>C (n.462G>C)
c.773G>C (p.Cys258Ser)
c.3239G>C (p.Cys1080Ser)
c.656-972G>C (n.656-972G>C)
c.3170G>C (p.Cys1057Ser)
c.3233G>C (p.Cys1078Ser)
c.3221G>C (p.Cys1074Ser)
2g.144389854C>TCA348700051ZEB2c.*3091G>A (n.*3091G>A)
c.2465G>A (p.Cys822Tyr)
c.3242G>A (p.Cys1081Tyr)
c.3230+12G>A (n.3230+12G>A)
n.3211G>A
c.2906G>A (p.Cys969Tyr)
c.3317G>A (p.Cys1106Tyr)
c.*2959G>A (n.*2959G>A)
n.3342G>A
c.151+6558G>A (n.151+6558G>A)
c.462G>A (n.462G>A)
c.773G>A (p.Cys258Tyr)
c.3239G>A (p.Cys1080Tyr)
c.656-972G>A (n.656-972G>A)
c.3170G>A (p.Cys1057Tyr)
c.3233G>A (p.Cys1078Tyr)
c.3221G>A (p.Cys1074Tyr)
 ClinVar dbSNP
2g.144389855A=CA1294881368ZEB2c.*3090T= (n.*3090T=)
c.2464T= (p.Cys822=)
c.3241T= (p.Cys1081=)
c.3230+11T= (n.3230+11T=)
n.3210T=
c.2905T= (p.Cys969=)
c.3316T= (p.Cys1106=)
c.*2958T= (n.*2958T=)
n.3341T=
c.151+6557T= (n.151+6557T=)
c.461T= (n.461T=)
c.772T= (p.Cys258=)
c.3238T= (p.Cys1080=)
c.656-973T= (n.656-973T=)
c.3169T= (p.Cys1057=)
c.3232T= (p.Cys1078=)
c.3220T= (p.Cys1074=)
2g.144389855A>CCA348700058ZEB2c.*3090T>G (n.*3090T>G)
c.2464T>G (p.Cys822Gly)
c.3241T>G (p.Cys1081Gly)
c.3230+11T>G (n.3230+11T>G)
n.3210T>G
c.2905T>G (p.Cys969Gly)
c.3316T>G (p.Cys1106Gly)
c.*2958T>G (n.*2958T>G)
n.3341T>G
c.151+6557T>G (n.151+6557T>G)
c.461T>G (n.461T>G)
c.772T>G (p.Cys258Gly)
c.3238T>G (p.Cys1080Gly)
c.656-973T>G (n.656-973T>G)
c.3169T>G (p.Cys1057Gly)
c.3232T>G (p.Cys1078Gly)
c.3220T>G (p.Cys1074Gly)
2g.144389855A>GCA348700053ZEB2c.*3090T>C (n.*3090T>C)
c.2464T>C (p.Cys822Arg)
c.3241T>C (p.Cys1081Arg)
c.3230+11T>C (n.3230+11T>C)
n.3210T>C
c.2905T>C (p.Cys969Arg)
c.3316T>C (p.Cys1106Arg)
c.*2958T>C (n.*2958T>C)
n.3341T>C
c.151+6557T>C (n.151+6557T>C)
c.461T>C (n.461T>C)
c.772T>C (p.Cys258Arg)
c.3238T>C (p.Cys1080Arg)
c.656-973T>C (n.656-973T>C)
c.3169T>C (p.Cys1057Arg)
c.3232T>C (p.Cys1078Arg)
c.3220T>C (p.Cys1074Arg)
2g.144389855A>TCA10606703ZEB2c.*3090T>A (n.*3090T>A)
c.2464T>A (p.Cys822Ser)
c.3241T>A (p.Cys1081Ser)
c.3230+11T>A (n.3230+11T>A)
n.3210T>A
c.2905T>A (p.Cys969Ser)
c.3316T>A (p.Cys1106Ser)
c.*2958T>A (n.*2958T>A)
n.3341T>A
c.151+6557T>A (n.151+6557T>A)
c.461T>A (n.461T>A)
c.772T>A (p.Cys258Ser)
c.3238T>A (p.Cys1080Ser)
c.656-973T>A (n.656-973T>A)
c.3169T>A (p.Cys1057Ser)
c.3232T>A (p.Cys1078Ser)
c.3220T>A (p.Cys1074Ser)
 ClinVar dbSNP
2g.144389856G>ACA57549530ZEB2c.*3089C>T (n.*3089C>T)
c.2463C>T (p.Tyr821=)
c.3240C>T (p.Tyr1080=)
c.3230+10C>T (n.3230+10C>T)
n.3209C>T
c.2904C>T (p.Tyr968=)
c.3315C>T (p.Tyr1105=)
c.*2957C>T (n.*2957C>T)
n.3340C>T
c.151+6556C>T (n.151+6556C>T)
c.460C>T (n.460C>T)
c.771C>T (p.Tyr257=)
c.3237C>T (p.Tyr1079=)
c.656-974C>T (n.656-974C>T)
c.3168C>T (p.Tyr1056=)
c.3231C>T (p.Tyr1077=)
c.3219C>T (p.Tyr1073=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144389856G>CCA348700062ZEB2c.*3089C>G (n.*3089C>G)
c.2463C>G (p.Tyr821Ter)
c.3240C>G (p.Tyr1080Ter)
c.3230+10C>G (n.3230+10C>G)
n.3209C>G
c.2904C>G (p.Tyr968Ter)
c.3315C>G (p.Tyr1105Ter)
c.*2957C>G (n.*2957C>G)
n.3340C>G
c.151+6556C>G (n.151+6556C>G)
c.460C>G (n.460C>G)
c.771C>G (p.Tyr257Ter)
c.3237C>G (p.Tyr1079Ter)
c.656-974C>G (n.656-974C>G)
c.3168C>G (p.Tyr1056Ter)
c.3231C>G (p.Tyr1077Ter)
c.3219C>G (p.Tyr1073Ter)
2g.144389856G=CA1294881369ZEB2c.*3089C= (n.*3089C=)
c.2463C= (p.Tyr821=)
c.3240C= (p.Tyr1080=)
c.3230+10C= (n.3230+10C=)
n.3209C=
c.2904C= (p.Tyr968=)
c.3315C= (p.Tyr1105=)
c.*2957C= (n.*2957C=)
n.3340C=
c.151+6556C= (n.151+6556C=)
c.460C= (n.460C=)
c.771C= (p.Tyr257=)
c.3237C= (p.Tyr1079=)
c.656-974C= (n.656-974C=)
c.3168C= (p.Tyr1056=)
c.3231C= (p.Tyr1077=)
c.3219C= (p.Tyr1073=)
2g.144389856G>TCA348700064ZEB2c.*3089C>A (n.*3089C>A)
c.2463C>A (p.Tyr821Ter)
c.3240C>A (p.Tyr1080Ter)
c.3230+10C>A (n.3230+10C>A)
n.3209C>A
c.2904C>A (p.Tyr968Ter)
c.3315C>A (p.Tyr1105Ter)
c.*2957C>A (n.*2957C>A)
n.3340C>A
c.151+6556C>A (n.151+6556C>A)
c.460C>A (n.460C>A)
c.771C>A (p.Tyr257Ter)
c.3237C>A (p.Tyr1079Ter)
c.656-974C>A (n.656-974C>A)
c.3168C>A (p.Tyr1056Ter)
c.3231C>A (p.Tyr1077Ter)
c.3219C>A (p.Tyr1073Ter)
2g.144389857T>ACA348700066ZEB2c.*3088A>T (n.*3088A>T)
c.2462A>T (p.Tyr821Phe)
c.3239A>T (p.Tyr1080Phe)
c.3230+9A>T (n.3230+9A>T)
n.3208A>T
c.2903A>T (p.Tyr968Phe)
c.3314A>T (p.Tyr1105Phe)
c.*2956A>T (n.*2956A>T)
n.3339A>T
c.151+6555A>T (n.151+6555A>T)
c.459A>T (n.459A>T)
c.770A>T (p.Tyr257Phe)
c.3236A>T (p.Tyr1079Phe)
c.656-975A>T (n.656-975A>T)
c.3167A>T (p.Tyr1056Phe)
c.3230A>T (p.Tyr1077Phe)
c.3218A>T (p.Tyr1073Phe)
2g.144389857T>CCA348700068ZEB2c.*3088A>G (n.*3088A>G)
c.2462A>G (p.Tyr821Cys)
c.3239A>G (p.Tyr1080Cys)
c.3230+9A>G (n.3230+9A>G)
n.3208A>G
c.2903A>G (p.Tyr968Cys)
c.3314A>G (p.Tyr1105Cys)
c.*2956A>G (n.*2956A>G)
n.3339A>G
c.151+6555A>G (n.151+6555A>G)
c.459A>G (n.459A>G)
c.770A>G (p.Tyr257Cys)
c.3236A>G (p.Tyr1079Cys)
c.656-975A>G (n.656-975A>G)
c.3167A>G (p.Tyr1056Cys)
c.3230A>G (p.Tyr1077Cys)
c.3218A>G (p.Tyr1073Cys)
2g.144389857T>GCA348700070ZEB2c.*3088A>C (n.*3088A>C)
c.2462A>C (p.Tyr821Ser)
c.3239A>C (p.Tyr1080Ser)
c.3230+9A>C (n.3230+9A>C)
n.3208A>C
c.2903A>C (p.Tyr968Ser)
c.3314A>C (p.Tyr1105Ser)
c.*2956A>C (n.*2956A>C)
n.3339A>C
c.151+6555A>C (n.151+6555A>C)
c.459A>C (n.459A>C)
c.770A>C (p.Tyr257Ser)
c.3236A>C (p.Tyr1079Ser)
c.656-975A>C (n.656-975A>C)
c.3167A>C (p.Tyr1056Ser)
c.3230A>C (p.Tyr1077Ser)
c.3218A>C (p.Tyr1073Ser)
2g.144389858A>CCA348700072ZEB2c.*3087T>G (n.*3087T>G)
c.2461T>G (p.Tyr821Asp)
c.3238T>G (p.Tyr1080Asp)
c.3230+8T>G (n.3230+8T>G)
n.3207T>G
c.2902T>G (p.Tyr968Asp)
c.3313T>G (p.Tyr1105Asp)
c.*2955T>G (n.*2955T>G)
n.3338T>G
c.151+6554T>G (n.151+6554T>G)
c.458T>G (n.458T>G)
c.769T>G (p.Tyr257Asp)
c.3235T>G (p.Tyr1079Asp)
c.656-976T>G (n.656-976T>G)
c.3166T>G (p.Tyr1056Asp)
c.3229T>G (p.Tyr1077Asp)
c.3217T>G (p.Tyr1073Asp)
2g.144389858A>GCA348700074ZEB2c.*3087T>C (n.*3087T>C)
c.2461T>C (p.Tyr821His)
c.3238T>C (p.Tyr1080His)
c.3230+8T>C (n.3230+8T>C)
n.3207T>C
c.2902T>C (p.Tyr968His)
c.3313T>C (p.Tyr1105His)
c.*2955T>C (n.*2955T>C)
n.3338T>C
c.151+6554T>C (n.151+6554T>C)
c.458T>C (n.458T>C)
c.769T>C (p.Tyr257His)
c.3235T>C (p.Tyr1079His)
c.656-976T>C (n.656-976T>C)
c.3166T>C (p.Tyr1056His)
c.3229T>C (p.Tyr1077His)
c.3217T>C (p.Tyr1073His)
 gnomAD v4
2g.144389858A>TCA348700078ZEB2c.*3087T>A (n.*3087T>A)
c.2461T>A (p.Tyr821Asn)
c.3238T>A (p.Tyr1080Asn)
c.3230+8T>A (n.3230+8T>A)
n.3207T>A
c.2902T>A (p.Tyr968Asn)
c.3313T>A (p.Tyr1105Asn)
c.*2955T>A (n.*2955T>A)
n.3338T>A
c.151+6554T>A (n.151+6554T>A)
c.458T>A (n.458T>A)
c.769T>A (p.Tyr257Asn)
c.3235T>A (p.Tyr1079Asn)
c.656-976T>A (n.656-976T>A)
c.3166T>A (p.Tyr1056Asn)
c.3229T>A (p.Tyr1077Asn)
c.3217T>A (p.Tyr1073Asn)
2g.144389859G>ACA429445332ZEB2c.*3086C>T (n.*3086C>T)
c.2460C>T (p.Ser820=)
c.3237C>T (p.Ser1079=)
c.3230+7C>T (n.3230+7C>T)
n.3206C>T
c.2901C>T (p.Ser967=)
c.3312C>T (p.Ser1104=)
c.*2954C>T (n.*2954C>T)
n.3337C>T
c.151+6553C>T (n.151+6553C>T)
c.457C>T (n.457C>T)
c.768C>T (p.Ser256=)
c.3234C>T (p.Ser1078=)
c.656-977C>T (n.656-977C>T)
c.3165C>T (p.Ser1055=)
c.3228C>T (p.Ser1076=)
c.3216C>T (p.Ser1072=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144389859G>CCA429445333ZEB2c.*3086C>G (n.*3086C>G)
c.2460C>G (p.Ser820=)
c.3237C>G (p.Ser1079=)
c.3230+7C>G (n.3230+7C>G)
n.3206C>G
c.2901C>G (p.Ser967=)
c.3312C>G (p.Ser1104=)
c.*2954C>G (n.*2954C>G)
n.3337C>G
c.151+6553C>G (n.151+6553C>G)
c.457C>G (n.457C>G)
c.768C>G (p.Ser256=)
c.3234C>G (p.Ser1078=)
c.656-977C>G (n.656-977C>G)
c.3165C>G (p.Ser1055=)
c.3228C>G (p.Ser1076=)
c.3216C>G (p.Ser1072=)
2g.144389859G=CA1294881370ZEB2c.*3086C= (n.*3086C=)
c.2460C= (p.Ser820=)
c.3237C= (p.Ser1079=)
c.3230+7C= (n.3230+7C=)
n.3206C=
c.2901C= (p.Ser967=)
c.3312C= (p.Ser1104=)
c.*2954C= (n.*2954C=)
n.3337C=
c.151+6553C= (n.151+6553C=)
c.457C= (n.457C=)
c.768C= (p.Ser256=)
c.3234C= (p.Ser1078=)
c.656-977C= (n.656-977C=)
c.3165C= (p.Ser1055=)
c.3228C= (p.Ser1076=)
c.3216C= (p.Ser1072=)
2g.144389859G>TCA429445334ZEB2c.*3086C>A (n.*3086C>A)
c.2460C>A (p.Ser820=)
c.3237C>A (p.Ser1079=)
c.3230+7C>A (n.3230+7C>A)
n.3206C>A
c.2901C>A (p.Ser967=)
c.3312C>A (p.Ser1104=)
c.*2954C>A (n.*2954C>A)
n.3337C>A
c.151+6553C>A (n.151+6553C>A)
c.457C>A (n.457C>A)
c.768C>A (p.Ser256=)
c.3234C>A (p.Ser1078=)
c.656-977C>A (n.656-977C>A)
c.3165C>A (p.Ser1055=)
c.3228C>A (p.Ser1076=)
c.3216C>A (p.Ser1072=)
2g.144389860G>ACA348700080ZEB2c.*3085C>T (n.*3085C>T)
c.2459C>T (p.Ser820Phe)
c.3236C>T (p.Ser1079Phe)
c.3230+6C>T (n.3230+6C>T)
n.3205C>T
c.2900C>T (p.Ser967Phe)
c.3311C>T (p.Ser1104Phe)
c.*2953C>T (n.*2953C>T)
n.3336C>T
c.151+6552C>T (n.151+6552C>T)
c.456C>T (n.456C>T)
c.767C>T (p.Ser256Phe)
c.3233C>T (p.Ser1078Phe)
c.656-978C>T (n.656-978C>T)
c.3164C>T (p.Ser1055Phe)
c.3227C>T (p.Ser1076Phe)
c.3215C>T (p.Ser1072Phe)
2g.144389860G>CCA348700082ZEB2c.*3085C>G (n.*3085C>G)
c.2459C>G (p.Ser820Cys)
c.3236C>G (p.Ser1079Cys)
c.3230+6C>G (n.3230+6C>G)
n.3205C>G
c.2900C>G (p.Ser967Cys)
c.3311C>G (p.Ser1104Cys)
c.*2953C>G (n.*2953C>G)
n.3336C>G
c.151+6552C>G (n.151+6552C>G)
c.456C>G (n.456C>G)
c.767C>G (p.Ser256Cys)
c.3233C>G (p.Ser1078Cys)
c.656-978C>G (n.656-978C>G)
c.3164C>G (p.Ser1055Cys)
c.3227C>G (p.Ser1076Cys)
c.3215C>G (p.Ser1072Cys)
2g.144389860G>TCA348700088ZEB2c.*3085C>A (n.*3085C>A)
c.2459C>A (p.Ser820Tyr)
c.3236C>A (p.Ser1079Tyr)
c.3230+6C>A (n.3230+6C>A)
n.3205C>A
c.2900C>A (p.Ser967Tyr)
c.3311C>A (p.Ser1104Tyr)
c.*2953C>A (n.*2953C>A)
n.3336C>A
c.151+6552C>A (n.151+6552C>A)
c.456C>A (n.456C>A)
c.767C>A (p.Ser256Tyr)
c.3233C>A (p.Ser1078Tyr)
c.656-978C>A (n.656-978C>A)
c.3164C>A (p.Ser1055Tyr)
c.3227C>A (p.Ser1076Tyr)
c.3215C>A (p.Ser1072Tyr)
 COSMIC
2g.144389861A>CCA348700104ZEB2c.*3084T>G (n.*3084T>G)
c.2458T>G (p.Ser820Ala)
c.3235T>G (p.Ser1079Ala)
c.3230+5T>G (n.3230+5T>G)
n.3204T>G
c.2899T>G (p.Ser967Ala)
c.3310T>G (p.Ser1104Ala)
c.*2952T>G (n.*2952T>G)
n.3335T>G
c.151+6551T>G (n.151+6551T>G)
c.455T>G (n.455T>G)
c.766T>G (p.Ser256Ala)
c.3232T>G (p.Ser1078Ala)
c.656-979T>G (n.656-979T>G)
c.3163T>G (p.Ser1055Ala)
c.3226T>G (p.Ser1076Ala)
c.3214T>G (p.Ser1072Ala)
2g.144389861A>GCA348700100ZEB2c.*3084T>C (n.*3084T>C)
c.2458T>C (p.Ser820Pro)
c.3235T>C (p.Ser1079Pro)
c.3230+5T>C (n.3230+5T>C)
n.3204T>C
c.2899T>C (p.Ser967Pro)
c.3310T>C (p.Ser1104Pro)
c.*2952T>C (n.*2952T>C)
n.3335T>C
c.151+6551T>C (n.151+6551T>C)
c.455T>C (n.455T>C)
c.766T>C (p.Ser256Pro)
c.3232T>C (p.Ser1078Pro)
c.656-979T>C (n.656-979T>C)
c.3163T>C (p.Ser1055Pro)
c.3226T>C (p.Ser1076Pro)
c.3214T>C (p.Ser1072Pro)
2g.144389861A>TCA348700093ZEB2c.*3084T>A (n.*3084T>A)
c.2458T>A (p.Ser820Thr)
c.3235T>A (p.Ser1079Thr)
c.3230+5T>A (n.3230+5T>A)
n.3204T>A
c.2899T>A (p.Ser967Thr)
c.3310T>A (p.Ser1104Thr)
c.*2952T>A (n.*2952T>A)
n.3335T>A
c.151+6551T>A (n.151+6551T>A)
c.455T>A (n.455T>A)
c.766T>A (p.Ser256Thr)
c.3232T>A (p.Ser1078Thr)
c.656-979T>A (n.656-979T>A)
c.3163T>A (p.Ser1055Thr)
c.3226T>A (p.Ser1076Thr)
c.3214T>A (p.Ser1072Thr)
2g.144389862A>CCA348700110ZEB2c.*3083T>G (n.*3083T>G)
c.2457T>G (p.Tyr819Ter)
c.3234T>G (p.Tyr1078Ter)
c.3230+4T>G (n.3230+4T>G)
n.3203T>G
c.2898T>G (p.Tyr966Ter)
c.3309T>G (p.Tyr1103Ter)
c.*2951T>G (n.*2951T>G)
n.3334T>G
c.151+6550T>G (n.151+6550T>G)
c.454T>G (n.454T>G)
c.765T>G (p.Tyr255Ter)
c.3231T>G (p.Tyr1077Ter)
c.656-980T>G (n.656-980T>G)
c.3162T>G (p.Tyr1054Ter)
c.3225T>G (p.Tyr1075Ter)
c.3213T>G (p.Tyr1071Ter)
2g.144389862A>GCA429445342ZEB2c.*3083T>C (n.*3083T>C)
c.2457T>C (p.Tyr819=)
c.3234T>C (p.Tyr1078=)
c.3230+4T>C (n.3230+4T>C)
n.3203T>C
c.2898T>C (p.Tyr966=)
c.3309T>C (p.Tyr1103=)
c.*2951T>C (n.*2951T>C)
n.3334T>C
c.151+6550T>C (n.151+6550T>C)
c.454T>C (n.454T>C)
c.765T>C (p.Tyr255=)
c.3231T>C (p.Tyr1077=)
c.656-980T>C (n.656-980T>C)
c.3162T>C (p.Tyr1054=)
c.3225T>C (p.Tyr1075=)
c.3213T>C (p.Tyr1071=)
 COSMIC
2g.144389862A>TCA348700113ZEB2c.*3083T>A (n.*3083T>A)
c.2457T>A (p.Tyr819Ter)
c.3234T>A (p.Tyr1078Ter)
c.3230+4T>A (n.3230+4T>A)
n.3203T>A
c.2898T>A (p.Tyr966Ter)
c.3309T>A (p.Tyr1103Ter)
c.*2951T>A (n.*2951T>A)
n.3334T>A
c.151+6550T>A (n.151+6550T>A)
c.454T>A (n.454T>A)
c.765T>A (p.Tyr255Ter)
c.3231T>A (p.Tyr1077Ter)
c.656-980T>A (n.656-980T>A)
c.3162T>A (p.Tyr1054Ter)
c.3225T>A (p.Tyr1075Ter)
c.3213T>A (p.Tyr1071Ter)
2g.144389863T>ACA348700116ZEB2c.*3082A>T (n.*3082A>T)
c.2456A>T (p.Tyr819Phe)
c.3233A>T (p.Tyr1078Phe)
c.3230+3A>T (n.3230+3A>T)
n.3202A>T
c.2897A>T (p.Tyr966Phe)
c.3308A>T (p.Tyr1103Phe)
c.*2950A>T (n.*2950A>T)
n.3333A>T
c.151+6549A>T (n.151+6549A>T)
c.453A>T (n.453A>T)
c.764A>T (p.Tyr255Phe)
c.3230A>T (p.Tyr1077Phe)
c.656-981A>T (n.656-981A>T)
c.3161A>T (p.Tyr1054Phe)
c.3224A>T (p.Tyr1075Phe)
c.3212A>T (p.Tyr1071Phe)
2g.144389863T>CCA348700122ZEB2c.*3082A>G (n.*3082A>G)
c.2456A>G (p.Tyr819Cys)
c.3233A>G (p.Tyr1078Cys)
c.3230+3A>G (n.3230+3A>G)
n.3202A>G
c.2897A>G (p.Tyr966Cys)
c.3308A>G (p.Tyr1103Cys)
c.*2950A>G (n.*2950A>G)
n.3333A>G
c.151+6549A>G (n.151+6549A>G)
c.453A>G (n.453A>G)
c.764A>G (p.Tyr255Cys)
c.3230A>G (p.Tyr1077Cys)
c.656-981A>G (n.656-981A>G)
c.3161A>G (p.Tyr1054Cys)
c.3224A>G (p.Tyr1075Cys)
c.3212A>G (p.Tyr1071Cys)
2g.144389863T>GCA348700119ZEB2c.*3082A>C (n.*3082A>C)
c.2456A>C (p.Tyr819Ser)
c.3233A>C (p.Tyr1078Ser)
c.3230+3A>C (n.3230+3A>C)
n.3202A>C
c.2897A>C (p.Tyr966Ser)
c.3308A>C (p.Tyr1103Ser)
c.*2950A>C (n.*2950A>C)
n.3333A>C
c.151+6549A>C (n.151+6549A>C)
c.453A>C (n.453A>C)
c.764A>C (p.Tyr255Ser)
c.3230A>C (p.Tyr1077Ser)
c.656-981A>C (n.656-981A>C)
c.3161A>C (p.Tyr1054Ser)
c.3224A>C (p.Tyr1075Ser)
c.3212A>C (p.Tyr1071Ser)
2g.144389864A>CCA348700127ZEB2c.*3081T>G (n.*3081T>G)
c.2455T>G (p.Tyr819Asp)
c.3232T>G (p.Tyr1078Asp)
c.3230+2T>G (n.3230+2T>G)
n.3201T>G
c.2896T>G (p.Tyr966Asp)
c.3307T>G (p.Tyr1103Asp)
c.*2949T>G (n.*2949T>G)
n.3332T>G
c.151+6548T>G (n.151+6548T>G)
c.452T>G (n.452T>G)
c.763T>G (p.Tyr255Asp)
c.3229T>G (p.Tyr1077Asp)
c.656-982T>G (n.656-982T>G)
c.3160T>G (p.Tyr1054Asp)
c.3223T>G (p.Tyr1075Asp)
c.3211T>G (p.Tyr1071Asp)
2g.144389864A>GCA348700132ZEB2c.*3081T>C (n.*3081T>C)
c.2455T>C (p.Tyr819His)
c.3232T>C (p.Tyr1078His)
c.3230+2T>C (n.3230+2T>C)
n.3201T>C
c.2896T>C (p.Tyr966His)
c.3307T>C (p.Tyr1103His)
c.*2949T>C (n.*2949T>C)
n.3332T>C
c.151+6548T>C (n.151+6548T>C)
c.452T>C (n.452T>C)
c.763T>C (p.Tyr255His)
c.3229T>C (p.Tyr1077His)
c.656-982T>C (n.656-982T>C)
c.3160T>C (p.Tyr1054His)
c.3223T>C (p.Tyr1075His)
c.3211T>C (p.Tyr1071His)
2g.144389864A>TCA348700129ZEB2c.*3081T>A (n.*3081T>A)
c.2455T>A (p.Tyr819Asn)
c.3232T>A (p.Tyr1078Asn)
c.3230+2T>A (n.3230+2T>A)
n.3201T>A
c.2896T>A (p.Tyr966Asn)
c.3307T>A (p.Tyr1103Asn)
c.*2949T>A (n.*2949T>A)
n.3332T>A
c.151+6548T>A (n.151+6548T>A)
c.452T>A (n.452T>A)
c.763T>A (p.Tyr255Asn)
c.3229T>A (p.Tyr1077Asn)
c.656-982T>A (n.656-982T>A)
c.3160T>A (p.Tyr1054Asn)
c.3223T>A (p.Tyr1075Asn)
c.3211T>A (p.Tyr1071Asn)
2g.144389865C>ACA348700134ZEB2c.*3080G>T (n.*3080G>T)
c.2454G>T (p.Arg818Ser)
c.3231G>T (p.Arg1077Ser)
c.3230+1G>T (n.3230+1G>T)
n.3200G>T
c.2895G>T (p.Arg965Ser)
c.3306G>T (p.Arg1102Ser)
c.*2948G>T (n.*2948G>T)
n.3331G>T
c.151+6547G>T (n.151+6547G>T)
c.451G>T (n.451G>T)
c.762G>T (p.Arg254Ser)
c.3228G>T (p.Arg1076Ser)
c.656-983G>T (n.656-983G>T)
c.3159G>T (p.Arg1053Ser)
c.3222G>T (p.Arg1074Ser)
c.3210G>T (p.Arg1070Ser)
2g.144389865C>GCA348700138ZEB2c.*3080G>C (n.*3080G>C)
c.2454G>C (p.Arg818Ser)
c.3231G>C (p.Arg1077Ser)
c.3230+1G>C (n.3230+1G>C)
n.3200G>C
c.2895G>C (p.Arg965Ser)
c.3306G>C (p.Arg1102Ser)
c.*2948G>C (n.*2948G>C)
n.3331G>C
c.151+6547G>C (n.151+6547G>C)
c.451G>C (n.451G>C)
c.762G>C (p.Arg254Ser)
c.3228G>C (p.Arg1076Ser)
c.656-983G>C (n.656-983G>C)
c.3159G>C (p.Arg1053Ser)
c.3222G>C (p.Arg1074Ser)
c.3210G>C (p.Arg1070Ser)
2g.144389865C>TCA429445350ZEB2c.*3080G>A (n.*3080G>A)
c.2454G>A (p.Arg818=)
c.3231G>A (p.Arg1077=)
c.3230+1G>A (n.3230+1G>A)
n.3200G>A
c.2895G>A (p.Arg965=)
c.3306G>A (p.Arg1102=)
c.*2948G>A (n.*2948G>A)
n.3331G>A
c.151+6547G>A (n.151+6547G>A)
c.451G>A (n.451G>A)
c.762G>A (p.Arg254=)
c.3228G>A (p.Arg1076=)
c.656-983G>A (n.656-983G>A)
c.3159G>A (p.Arg1053=)
c.3222G>A (p.Arg1074=)
c.3210G>A (p.Arg1070=)
 gnomAD v4
2g.144389866C>ACA348700143ZEB2c.*3079G>T (n.*3079G>T)
c.2453G>T (p.Arg818Met)
c.3230G>T (p.Arg1077Met)
c.3230G>T (p.Arg1077Ile)
n.3199G>T
c.2894G>T (p.Arg965Met)
c.3305G>T (p.Arg1102Met)
c.*2947G>T (n.*2947G>T)
n.3330G>T
c.151+6546G>T (n.151+6546G>T)
c.450G>T (n.450G>T)
c.761G>T (p.Arg254Met)
c.3227G>T (p.Arg1076Met)
c.656-984G>T (n.656-984G>T)
c.3158G>T (p.Arg1053Met)
c.3221G>T (p.Arg1074Met)
c.3209G>T (p.Arg1070Met)
2g.144389866C>GCA348700145ZEB2c.*3079G>C (n.*3079G>C)
c.2453G>C (p.Arg818Thr)
c.3230G>C (p.Arg1077Thr)
n.3199G>C
c.2894G>C (p.Arg965Thr)
c.3305G>C (p.Arg1102Thr)
c.*2947G>C (n.*2947G>C)
n.3330G>C
c.151+6546G>C (n.151+6546G>C)
c.450G>C (n.450G>C)
c.761G>C (p.Arg254Thr)
c.3227G>C (p.Arg1076Thr)
c.656-984G>C (n.656-984G>C)
c.3158G>C (p.Arg1053Thr)
c.3221G>C (p.Arg1074Thr)
c.3209G>C (p.Arg1070Thr)
2g.144389866C>TCA348700146ZEB2c.*3079G>A (n.*3079G>A)
c.2453G>A (p.Arg818Lys)
c.3230G>A (p.Arg1077Lys)
n.3199G>A
c.2894G>A (p.Arg965Lys)
c.3305G>A (p.Arg1102Lys)
c.*2947G>A (n.*2947G>A)
n.3330G>A
c.151+6546G>A (n.151+6546G>A)
c.450G>A (n.450G>A)
c.761G>A (p.Arg254Lys)
c.3227G>A (p.Arg1076Lys)
c.656-984G>A (n.656-984G>A)
c.3158G>A (p.Arg1053Lys)
c.3221G>A (p.Arg1074Lys)
c.3209G>A (p.Arg1070Lys)
2g.144389867T>ACA348700147ZEB2c.*3078A>T (n.*3078A>T)
c.2452A>T (p.Arg818Trp)
c.3229A>T (p.Arg1077Trp)
c.3229A>T (p.Arg1077Ter)
n.3198A>T
c.2893A>T (p.Arg965Trp)
c.3304A>T (p.Arg1102Trp)
c.*2946A>T (n.*2946A>T)
n.3329A>T
c.151+6545A>T (n.151+6545A>T)
c.449A>T (n.449A>T)
c.760A>T (p.Arg254Trp)
c.3226A>T (p.Arg1076Trp)
c.656-985A>T (n.656-985A>T)
c.3157A>T (p.Arg1053Trp)
c.3220A>T (p.Arg1074Trp)
c.3208A>T (p.Arg1070Trp)
2g.144389867T>CCA348700149ZEB2c.*3078A>G (n.*3078A>G)
c.2452A>G (p.Arg818Gly)
c.3229A>G (p.Arg1077Gly)
n.3198A>G
c.2893A>G (p.Arg965Gly)
c.3304A>G (p.Arg1102Gly)
c.*2946A>G (n.*2946A>G)
n.3329A>G
c.151+6545A>G (n.151+6545A>G)
c.449A>G (n.449A>G)
c.760A>G (p.Arg254Gly)
c.3226A>G (p.Arg1076Gly)
c.656-985A>G (n.656-985A>G)
c.3157A>G (p.Arg1053Gly)
c.3220A>G (p.Arg1074Gly)
c.3208A>G (p.Arg1070Gly)
2g.144389867T>GCA429445353ZEB2c.*3078A>C (n.*3078A>C)
c.2452A>C (p.Arg818=)
c.3229A>C (p.Arg1077=)
n.3198A>C
c.2893A>C (p.Arg965=)
c.3304A>C (p.Arg1102=)
c.*2946A>C (n.*2946A>C)
n.3329A>C
c.151+6545A>C (n.151+6545A>C)
c.449A>C (n.449A>C)
c.760A>C (p.Arg254=)
c.3226A>C (p.Arg1076=)
c.656-985A>C (n.656-985A>C)
c.3157A>C (p.Arg1053=)
c.3220A>C (p.Arg1074=)
c.3208A>C (p.Arg1070=)
2g.144389868G>ACA429445354ZEB2c.*3077C>T (n.*3077C>T)
c.2451C>T (p.His817=)
c.3228C>T (p.His1076=)
n.3197C>T
c.2892C>T (p.His964=)
c.3303C>T (p.His1101=)
c.*2945C>T (n.*2945C>T)
n.3328C>T
c.151+6544C>T (n.151+6544C>T)
c.448C>T (n.448C>T)
c.759C>T (p.His253=)
c.3225C>T (p.His1075=)
c.656-986C>T (n.656-986C>T)
c.3156C>T (p.His1052=)
c.3219C>T (p.His1073=)
c.3207C>T (p.His1069=)
2g.144389868G>CCA348700152ZEB2c.*3077C>G (n.*3077C>G)
c.2451C>G (p.His817Gln)
c.3228C>G (p.His1076Gln)
n.3197C>G
c.2892C>G (p.His964Gln)
c.3303C>G (p.His1101Gln)
c.*2945C>G (n.*2945C>G)
n.3328C>G
c.151+6544C>G (n.151+6544C>G)
c.448C>G (n.448C>G)
c.759C>G (p.His253Gln)
c.3225C>G (p.His1075Gln)
c.656-986C>G (n.656-986C>G)
c.3156C>G (p.His1052Gln)
c.3219C>G (p.His1073Gln)
c.3207C>G (p.His1069Gln)
2g.144389868G>TCA348700154ZEB2c.*3077C>A (n.*3077C>A)
c.2451C>A (p.His817Gln)
c.3228C>A (p.His1076Gln)
n.3197C>A
c.2892C>A (p.His964Gln)
c.3303C>A (p.His1101Gln)
c.*2945C>A (n.*2945C>A)
n.3328C>A
c.151+6544C>A (n.151+6544C>A)
c.448C>A (n.448C>A)
c.759C>A (p.His253Gln)
c.3225C>A (p.His1075Gln)
c.656-986C>A (n.656-986C>A)
c.3156C>A (p.His1052Gln)
c.3219C>A (p.His1073Gln)
c.3207C>A (p.His1069Gln)
 COSMIC
2g.144389869T>ACA348700158ZEB2c.*3076A>T (n.*3076A>T)
c.2450A>T (p.His817Leu)
c.3227A>T (p.His1076Leu)
n.3196A>T
c.2891A>T (p.His964Leu)
c.3302A>T (p.His1101Leu)
c.*2944A>T (n.*2944A>T)
n.3327A>T
c.151+6543A>T (n.151+6543A>T)
c.447A>T (n.447A>T)
c.758A>T (p.His253Leu)
c.3224A>T (p.His1075Leu)
c.656-987A>T (n.656-987A>T)
c.3155A>T (p.His1052Leu)
c.3218A>T (p.His1073Leu)
c.3206A>T (p.His1069Leu)
2g.144389869T>CCA348700160ZEB2c.*3076A>G (n.*3076A>G)
c.2450A>G (p.His817Arg)
c.3227A>G (p.His1076Arg)
n.3196A>G
c.2891A>G (p.His964Arg)
c.3302A>G (p.His1101Arg)
c.*2944A>G (n.*2944A>G)
n.3327A>G
c.151+6543A>G (n.151+6543A>G)
c.447A>G (n.447A>G)
c.758A>G (p.His253Arg)
c.3224A>G (p.His1075Arg)
c.656-987A>G (n.656-987A>G)
c.3155A>G (p.His1052Arg)
c.3218A>G (p.His1073Arg)
c.3206A>G (p.His1069Arg)
2g.144389869T>GCA348700162ZEB2c.*3076A>C (n.*3076A>C)
c.2450A>C (p.His817Pro)
c.3227A>C (p.His1076Pro)
n.3196A>C
c.2891A>C (p.His964Pro)
c.3302A>C (p.His1101Pro)
c.*2944A>C (n.*2944A>C)
n.3327A>C
c.151+6543A>C (n.151+6543A>C)
c.447A>C (n.447A>C)
c.758A>C (p.His253Pro)
c.3224A>C (p.His1075Pro)
c.656-987A>C (n.656-987A>C)
c.3155A>C (p.His1052Pro)
c.3218A>C (p.His1073Pro)
c.3206A>C (p.His1069Pro)
2g.144389869dupCA2580063844ZEB2c.*3076dup (n.*3076dup)
c.2450dup (p.His817GlnfsTer?)
c.3227dup (p.His1076GlnfsTer?)
n.3196dup
c.2891dup (p.His964GlnfsTer?)
c.3302dup (p.His1101GlnfsTer?)
c.*2944dup (n.*2944dup)
n.3327dup
c.151+6543dup (n.151+6543dup)
c.447dup (n.447dup)
c.758dup (p.His253GlnfsTer?)
c.3224dup (p.His1075GlnfsTer?)
c.656-987dup (n.656-987dup)
c.3155dup (p.His1052GlnfsTer?)
c.3218dup (p.His1073GlnfsTer?)
c.3206dup (p.His1069GlnfsTer?)
 ClinVar
2g.144389870G>ACA348700165ZEB2c.*3075C>T (n.*3075C>T)
c.2449C>T (p.His817Tyr)
c.3226C>T (p.His1076Tyr)
n.3195C>T
c.2890C>T (p.His964Tyr)
c.3301C>T (p.His1101Tyr)
c.*2943C>T (n.*2943C>T)
n.3326C>T
c.151+6542C>T (n.151+6542C>T)
c.446C>T (n.446C>T)
c.757C>T (p.His253Tyr)
c.3223C>T (p.His1075Tyr)
c.656-988C>T (n.656-988C>T)
c.3154C>T (p.His1052Tyr)
c.3217C>T (p.His1073Tyr)
c.3205C>T (p.His1069Tyr)
 ClinVar dbSNP
2g.144389870G>CCA348700168ZEB2c.*3075C>G (n.*3075C>G)
c.2449C>G (p.His817Asp)
c.3226C>G (p.His1076Asp)
n.3195C>G
c.2890C>G (p.His964Asp)
c.3301C>G (p.His1101Asp)
c.*2943C>G (n.*2943C>G)
n.3326C>G
c.151+6542C>G (n.151+6542C>G)
c.446C>G (n.446C>G)
c.757C>G (p.His253Asp)
c.3223C>G (p.His1075Asp)
c.656-988C>G (n.656-988C>G)
c.3154C>G (p.His1052Asp)
c.3217C>G (p.His1073Asp)
c.3205C>G (p.His1069Asp)
 COSMIC
2g.144389870G>TCA348700172ZEB2c.*3075C>A (n.*3075C>A)
c.2449C>A (p.His817Asn)
c.3226C>A (p.His1076Asn)
n.3195C>A
c.2890C>A (p.His964Asn)
c.3301C>A (p.His1101Asn)
c.*2943C>A (n.*2943C>A)
n.3326C>A
c.151+6542C>A (n.151+6542C>A)
c.446C>A (n.446C>A)
c.757C>A (p.His253Asn)
c.3223C>A (p.His1075Asn)
c.656-988C>A (n.656-988C>A)
c.3154C>A (p.His1052Asn)
c.3217C>A (p.His1073Asn)
c.3205C>A (p.His1069Asn)
2g.144389871A>CCA348700176ZEB2c.*3074T>G (n.*3074T>G)
c.2448T>G (p.Asn816Lys)
c.3225T>G (p.Asn1075Lys)
n.3194T>G
c.2889T>G (p.Asn963Lys)
c.3300T>G (p.Asn1100Lys)
c.*2942T>G (n.*2942T>G)
n.3325T>G
c.151+6541T>G (n.151+6541T>G)
c.445T>G (n.445T>G)
c.756T>G (p.Asn252Lys)
c.3222T>G (p.Asn1074Lys)
c.656-989T>G (n.656-989T>G)
c.3153T>G (p.Asn1051Lys)
c.3216T>G (p.Asn1072Lys)
c.3204T>G (p.Asn1068Lys)
2g.144389871A>GCA429445366ZEB2c.*3074T>C (n.*3074T>C)
c.2448T>C (p.Asn816=)
c.3225T>C (p.Asn1075=)
n.3194T>C
c.2889T>C (p.Asn963=)
c.3300T>C (p.Asn1100=)
c.*2942T>C (n.*2942T>C)
n.3325T>C
c.151+6541T>C (n.151+6541T>C)
c.445T>C (n.445T>C)
c.756T>C (p.Asn252=)
c.3222T>C (p.Asn1074=)
c.656-989T>C (n.656-989T>C)
c.3153T>C (p.Asn1051=)
c.3216T>C (p.Asn1072=)
c.3204T>C (p.Asn1068=)
2g.144389871A>TCA348700178ZEB2c.*3074T>A (n.*3074T>A)
c.2448T>A (p.Asn816Lys)
c.3225T>A (p.Asn1075Lys)
n.3194T>A
c.2889T>A (p.Asn963Lys)
c.3300T>A (p.Asn1100Lys)
c.*2942T>A (n.*2942T>A)
n.3325T>A
c.151+6541T>A (n.151+6541T>A)
c.445T>A (n.445T>A)
c.756T>A (p.Asn252Lys)
c.3222T>A (p.Asn1074Lys)
c.656-989T>A (n.656-989T>A)
c.3153T>A (p.Asn1051Lys)
c.3216T>A (p.Asn1072Lys)
c.3204T>A (p.Asn1068Lys)
2g.144389872T>ACA348700180ZEB2c.*3073A>T (n.*3073A>T)
c.2447A>T (p.Asn816Ile)
c.3224A>T (p.Asn1075Ile)
n.3193A>T
c.2888A>T (p.Asn963Ile)
c.3299A>T (p.Asn1100Ile)
c.*2941A>T (n.*2941A>T)
n.3324A>T
c.151+6540A>T (n.151+6540A>T)
c.444A>T (n.444A>T)
c.755A>T (p.Asn252Ile)
c.3221A>T (p.Asn1074Ile)
c.656-990A>T (n.656-990A>T)
c.3152A>T (p.Asn1051Ile)
c.3215A>T (p.Asn1072Ile)
c.3203A>T (p.Asn1068Ile)
2g.144389872T>CCA348700187ZEB2c.*3073A>G (n.*3073A>G)
c.2447A>G (p.Asn816Ser)
c.3224A>G (p.Asn1075Ser)
n.3193A>G
c.2888A>G (p.Asn963Ser)
c.3299A>G (p.Asn1100Ser)
c.*2941A>G (n.*2941A>G)
n.3324A>G
c.151+6540A>G (n.151+6540A>G)
c.444A>G (n.444A>G)
c.755A>G (p.Asn252Ser)
c.3221A>G (p.Asn1074Ser)
c.656-990A>G (n.656-990A>G)
c.3152A>G (p.Asn1051Ser)
c.3215A>G (p.Asn1072Ser)
c.3203A>G (p.Asn1068Ser)
 gnomAD v4
2g.144389872T>GCA348700190ZEB2c.*3073A>C (n.*3073A>C)
c.2447A>C (p.Asn816Thr)
c.3224A>C (p.Asn1075Thr)
n.3193A>C
c.2888A>C (p.Asn963Thr)
c.3299A>C (p.Asn1100Thr)
c.*2941A>C (n.*2941A>C)
n.3324A>C
c.151+6540A>C (n.151+6540A>C)
c.444A>C (n.444A>C)
c.755A>C (p.Asn252Thr)
c.3221A>C (p.Asn1074Thr)
c.656-990A>C (n.656-990A>C)
c.3152A>C (p.Asn1051Thr)
c.3215A>C (p.Asn1072Thr)
c.3203A>C (p.Asn1068Thr)
2g.144389873T>ACA348700191ZEB2c.*3072A>T (n.*3072A>T)
c.2446A>T (p.Asn816Tyr)
c.3223A>T (p.Asn1075Tyr)
n.3192A>T
c.2887A>T (p.Asn963Tyr)
c.3298A>T (p.Asn1100Tyr)
c.*2940A>T (n.*2940A>T)
n.3323A>T
c.151+6539A>T (n.151+6539A>T)
c.443A>T (n.443A>T)
c.754A>T (p.Asn252Tyr)
c.3220A>T (p.Asn1074Tyr)
c.656-991A>T (n.656-991A>T)
c.3151A>T (p.Asn1051Tyr)
c.3214A>T (p.Asn1072Tyr)
c.3202A>T (p.Asn1068Tyr)
2g.144389873T>CCA348700192ZEB2c.*3072A>G (n.*3072A>G)
c.2446A>G (p.Asn816Asp)
c.3223A>G (p.Asn1075Asp)
n.3192A>G
c.2887A>G (p.Asn963Asp)
c.3298A>G (p.Asn1100Asp)
c.*2940A>G (n.*2940A>G)
n.3323A>G
c.151+6539A>G (n.151+6539A>G)
c.443A>G (n.443A>G)
c.754A>G (p.Asn252Asp)
c.3220A>G (p.Asn1074Asp)
c.656-991A>G (n.656-991A>G)
c.3151A>G (p.Asn1051Asp)
c.3214A>G (p.Asn1072Asp)
c.3202A>G (p.Asn1068Asp)
2g.144389873T>GCA348700193ZEB2c.*3072A>C (n.*3072A>C)
c.2446A>C (p.Asn816His)
c.3223A>C (p.Asn1075His)
n.3192A>C
c.2887A>C (p.Asn963His)
c.3298A>C (p.Asn1100His)
c.*2940A>C (n.*2940A>C)
n.3323A>C
c.151+6539A>C (n.151+6539A>C)
c.443A>C (n.443A>C)
c.754A>C (p.Asn252His)
c.3220A>C (p.Asn1074His)
c.656-991A>C (n.656-991A>C)
c.3151A>C (p.Asn1051His)
c.3214A>C (p.Asn1072His)
c.3202A>C (p.Asn1068His)
2g.144389874C>ACA348700198ZEB2c.*3071G>T (n.*3071G>T)
c.2445G>T (p.Met815Ile)
c.3222G>T (p.Met1074Ile)
n.3191G>T
c.2886G>T (p.Met962Ile)
c.3297G>T (p.Met1099Ile)
c.*2939G>T (n.*2939G>T)
n.3322G>T
c.151+6538G>T (n.151+6538G>T)
c.442G>T (n.442G>T)
c.753G>T (p.Met251Ile)
c.3219G>T (p.Met1073Ile)
c.656-992G>T (n.656-992G>T)
c.3150G>T (p.Met1050Ile)
c.3213G>T (p.Met1071Ile)
c.3201G>T (p.Met1067Ile)
2g.144389874C>GCA348700199ZEB2c.*3071G>C (n.*3071G>C)
c.2445G>C (p.Met815Ile)
c.3222G>C (p.Met1074Ile)
n.3191G>C
c.2886G>C (p.Met962Ile)
c.3297G>C (p.Met1099Ile)
c.*2939G>C (n.*2939G>C)
n.3322G>C
c.151+6538G>C (n.151+6538G>C)
c.442G>C (n.442G>C)
c.753G>C (p.Met251Ile)
c.3219G>C (p.Met1073Ile)
c.656-992G>C (n.656-992G>C)
c.3150G>C (p.Met1050Ile)
c.3213G>C (p.Met1071Ile)
c.3201G>C (p.Met1067Ile)
2g.144389874C>TCA348700200ZEB2c.*3071G>A (n.*3071G>A)
c.2445G>A (p.Met815Ile)
c.3222G>A (p.Met1074Ile)
n.3191G>A
c.2886G>A (p.Met962Ile)
c.3297G>A (p.Met1099Ile)
c.*2939G>A (n.*2939G>A)
n.3322G>A
c.151+6538G>A (n.151+6538G>A)
c.442G>A (n.442G>A)
c.753G>A (p.Met251Ile)
c.3219G>A (p.Met1073Ile)
c.656-992G>A (n.656-992G>A)
c.3150G>A (p.Met1050Ile)
c.3213G>A (p.Met1071Ile)
c.3201G>A (p.Met1067Ile)
2g.144389875A>CCA348700201ZEB2c.*3070T>G (n.*3070T>G)
c.2444T>G (p.Met815Arg)
c.3221T>G (p.Met1074Arg)
n.3190T>G
c.2885T>G (p.Met962Arg)
c.3296T>G (p.Met1099Arg)
c.*2938T>G (n.*2938T>G)
n.3321T>G
c.151+6537T>G (n.151+6537T>G)
c.441T>G (n.441T>G)
c.752T>G (p.Met251Arg)
c.3218T>G (p.Met1073Arg)
c.656-993T>G (n.656-993T>G)
c.3149T>G (p.Met1050Arg)
c.3212T>G (p.Met1071Arg)
c.3200T>G (p.Met1067Arg)
2g.144389875A>GCA348700205ZEB2c.*3070T>C (n.*3070T>C)
c.2444T>C (p.Met815Thr)
c.3221T>C (p.Met1074Thr)
n.3190T>C
c.2885T>C (p.Met962Thr)
c.3296T>C (p.Met1099Thr)
c.*2938T>C (n.*2938T>C)
n.3321T>C
c.151+6537T>C (n.151+6537T>C)
c.441T>C (n.441T>C)
c.752T>C (p.Met251Thr)
c.3218T>C (p.Met1073Thr)
c.656-993T>C (n.656-993T>C)
c.3149T>C (p.Met1050Thr)
c.3212T>C (p.Met1071Thr)
c.3200T>C (p.Met1067Thr)
2g.144389875A>TCA348700209ZEB2c.*3070T>A (n.*3070T>A)
c.2444T>A (p.Met815Lys)
c.3221T>A (p.Met1074Lys)
n.3190T>A
c.2885T>A (p.Met962Lys)
c.3296T>A (p.Met1099Lys)
c.*2938T>A (n.*2938T>A)
n.3321T>A
c.151+6537T>A (n.151+6537T>A)
c.441T>A (n.441T>A)
c.752T>A (p.Met251Lys)
c.3218T>A (p.Met1073Lys)
c.656-993T>A (n.656-993T>A)
c.3149T>A (p.Met1050Lys)
c.3212T>A (p.Met1071Lys)
c.3200T>A (p.Met1067Lys)
2g.144389876T>ACA348700215ZEB2c.*3069A>T (n.*3069A>T)
c.2443A>T (p.Met815Leu)
c.3220A>T (p.Met1074Leu)
n.3189A>T
c.2884A>T (p.Met962Leu)
c.3295A>T (p.Met1099Leu)
c.*2937A>T (n.*2937A>T)
n.3320A>T
c.151+6536A>T (n.151+6536A>T)
c.440A>T (n.440A>T)
c.751A>T (p.Met251Leu)
c.3217A>T (p.Met1073Leu)
c.656-994A>T (n.656-994A>T)
c.3148A>T (p.Met1050Leu)
c.3211A>T (p.Met1071Leu)
c.3199A>T (p.Met1067Leu)
2g.144389876T>CCA348700223ZEB2c.*3069A>G (n.*3069A>G)
c.2443A>G (p.Met815Val)
c.3220A>G (p.Met1074Val)
n.3189A>G
c.2884A>G (p.Met962Val)
c.3295A>G (p.Met1099Val)
c.*2937A>G (n.*2937A>G)
n.3320A>G
c.151+6536A>G (n.151+6536A>G)
c.440A>G (n.440A>G)
c.751A>G (p.Met251Val)
c.3217A>G (p.Met1073Val)
c.656-994A>G (n.656-994A>G)
c.3148A>G (p.Met1050Val)
c.3211A>G (p.Met1071Val)
c.3199A>G (p.Met1067Val)
 ClinVar dbSNP
2g.144389876T>GCA348700218ZEB2c.*3069A>C (n.*3069A>C)
c.2443A>C (p.Met815Leu)
c.3220A>C (p.Met1074Leu)
n.3189A>C
c.2884A>C (p.Met962Leu)
c.3295A>C (p.Met1099Leu)
c.*2937A>C (n.*2937A>C)
n.3320A>C
c.151+6536A>C (n.151+6536A>C)
c.440A>C (n.440A>C)
c.751A>C (p.Met251Leu)
c.3217A>C (p.Met1073Leu)
c.656-994A>C (n.656-994A>C)
c.3148A>C (p.Met1050Leu)
c.3211A>C (p.Met1071Leu)
c.3199A>C (p.Met1067Leu)
2g.144389876T=CA1294881371ZEB2c.*3069A= (n.*3069A=)
c.2443A= (p.Met815=)
c.3220A= (p.Met1074=)
n.3189A=
c.2884A= (p.Met962=)
c.3295A= (p.Met1099=)
c.*2937A= (n.*2937A=)
n.3320A=
c.151+6536A= (n.151+6536A=)
c.440A= (n.440A=)
c.751A= (p.Met251=)
c.3217A= (p.Met1073=)
c.656-994A= (n.656-994A=)
c.3148A= (p.Met1050=)
c.3211A= (p.Met1071=)
c.3199A= (p.Met1067=)
2g.144389877G>ACA239322ZEB2c.*3068C>T (n.*3068C>T)
c.2442C>T (p.His814=)
c.3219C>T (p.His1073=)
n.3188C>T
c.2883C>T (p.His961=)
c.3294C>T (p.His1098=)
c.*2936C>T (n.*2936C>T)
n.3319C>T
c.151+6535C>T (n.151+6535C>T)
c.439C>T (n.439C>T)
c.750C>T (p.His250=)
c.3216C>T (p.His1072=)
c.656-995C>T (n.656-995C>T)
c.3147C>T (p.His1049=)
c.3210C>T (p.His1070=)
c.3198C>T (p.His1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389877G>CCA348700233ZEB2c.*3068C>G (n.*3068C>G)
c.2442C>G (p.His814Gln)
c.3219C>G (p.His1073Gln)
n.3188C>G
c.2883C>G (p.His961Gln)
c.3294C>G (p.His1098Gln)
c.*2936C>G (n.*2936C>G)
n.3319C>G
c.151+6535C>G (n.151+6535C>G)
c.439C>G (n.439C>G)
c.750C>G (p.His250Gln)
c.3216C>G (p.His1072Gln)
c.656-995C>G (n.656-995C>G)
c.3147C>G (p.His1049Gln)
c.3210C>G (p.His1070Gln)
c.3198C>G (p.His1066Gln)
2g.144389877G=CA1294881372ZEB2c.*3068C= (n.*3068C=)
c.2442C= (p.His814=)
c.3219C= (p.His1073=)
n.3188C=
c.2883C= (p.His961=)
c.3294C= (p.His1098=)
c.*2936C= (n.*2936C=)
n.3319C=
c.151+6535C= (n.151+6535C=)
c.439C= (n.439C=)
c.750C= (p.His250=)
c.3216C= (p.His1072=)
c.656-995C= (n.656-995C=)
c.3147C= (p.His1049=)
c.3210C= (p.His1070=)
c.3198C= (p.His1066=)
2g.144389877G>TCA348700236ZEB2c.*3068C>A (n.*3068C>A)
c.2442C>A (p.His814Gln)
c.3219C>A (p.His1073Gln)
n.3188C>A
c.2883C>A (p.His961Gln)
c.3294C>A (p.His1098Gln)
c.*2936C>A (n.*2936C>A)
n.3319C>A
c.151+6535C>A (n.151+6535C>A)
c.439C>A (n.439C>A)
c.750C>A (p.His250Gln)
c.3216C>A (p.His1072Gln)
c.656-995C>A (n.656-995C>A)
c.3147C>A (p.His1049Gln)
c.3210C>A (p.His1070Gln)
c.3198C>A (p.His1066Gln)
2g.144389878T>ACA348700239ZEB2c.*3067A>T (n.*3067A>T)
c.2441A>T (p.His814Leu)
c.3218A>T (p.His1073Leu)
n.3187A>T
c.2882A>T (p.His961Leu)
c.3293A>T (p.His1098Leu)
c.*2935A>T (n.*2935A>T)
n.3318A>T
c.151+6534A>T (n.151+6534A>T)
c.438A>T (n.438A>T)
c.749A>T (p.His250Leu)
c.3215A>T (p.His1072Leu)
c.656-996A>T (n.656-996A>T)
c.3146A>T (p.His1049Leu)
c.3209A>T (p.His1070Leu)
c.3197A>T (p.His1066Leu)
2g.144389878T>CCA348700242ZEB2c.*3067A>G (n.*3067A>G)
c.2441A>G (p.His814Arg)
c.3218A>G (p.His1073Arg)
n.3187A>G
c.2882A>G (p.His961Arg)
c.3293A>G (p.His1098Arg)
c.*2935A>G (n.*2935A>G)
n.3318A>G
c.151+6534A>G (n.151+6534A>G)
c.438A>G (n.438A>G)
c.749A>G (p.His250Arg)
c.3215A>G (p.His1072Arg)
c.656-996A>G (n.656-996A>G)
c.3146A>G (p.His1049Arg)
c.3209A>G (p.His1070Arg)
c.3197A>G (p.His1066Arg)
 ClinVar dbSNP
2g.144389878T>GCA348700245ZEB2c.*3067A>C (n.*3067A>C)
c.2441A>C (p.His814Pro)
c.3218A>C (p.His1073Pro)
n.3187A>C
c.2882A>C (p.His961Pro)
c.3293A>C (p.His1098Pro)
c.*2935A>C (n.*2935A>C)
n.3318A>C
c.151+6534A>C (n.151+6534A>C)
c.438A>C (n.438A>C)
c.749A>C (p.His250Pro)
c.3215A>C (p.His1072Pro)
c.656-996A>C (n.656-996A>C)
c.3146A>C (p.His1049Pro)
c.3209A>C (p.His1070Pro)
c.3197A>C (p.His1066Pro)
2g.144389878T=CA1294881373ZEB2c.*3067A= (n.*3067A=)
c.2441A= (p.His814=)
c.3218A= (p.His1073=)
n.3187A=
c.2882A= (p.His961=)
c.3293A= (p.His1098=)
c.*2935A= (n.*2935A=)
n.3318A=
c.151+6534A= (n.151+6534A=)
c.438A= (n.438A=)
c.749A= (p.His250=)
c.3215A= (p.His1072=)
c.656-996A= (n.656-996A=)
c.3146A= (p.His1049=)
c.3209A= (p.His1070=)
c.3197A= (p.His1066=)
2g.144389879G>ACA348700248ZEB2c.*3066C>T (n.*3066C>T)
c.2440C>T (p.His814Tyr)
c.3217C>T (p.His1073Tyr)
n.3186C>T
c.2881C>T (p.His961Tyr)
c.3292C>T (p.His1098Tyr)
c.*2934C>T (n.*2934C>T)
n.3317C>T
c.151+6533C>T (n.151+6533C>T)
c.437C>T (n.437C>T)
c.748C>T (p.His250Tyr)
c.3214C>T (p.His1072Tyr)
c.656-997C>T (n.656-997C>T)
c.3145C>T (p.His1049Tyr)
c.3208C>T (p.His1070Tyr)
c.3196C>T (p.His1066Tyr)
2g.144389879G>CCA348700249ZEB2c.*3066C>G (n.*3066C>G)
c.2440C>G (p.His814Asp)
c.3217C>G (p.His1073Asp)
n.3186C>G
c.2881C>G (p.His961Asp)
c.3292C>G (p.His1098Asp)
c.*2934C>G (n.*2934C>G)
n.3317C>G
c.151+6533C>G (n.151+6533C>G)
c.437C>G (n.437C>G)
c.748C>G (p.His250Asp)
c.3214C>G (p.His1072Asp)
c.656-997C>G (n.656-997C>G)
c.3145C>G (p.His1049Asp)
c.3208C>G (p.His1070Asp)
c.3196C>G (p.His1066Asp)
2g.144389879G>TCA348700252ZEB2c.*3066C>A (n.*3066C>A)
c.2440C>A (p.His814Asn)
c.3217C>A (p.His1073Asn)
n.3186C>A
c.2881C>A (p.His961Asn)
c.3292C>A (p.His1098Asn)
c.*2934C>A (n.*2934C>A)
n.3317C>A
c.151+6533C>A (n.151+6533C>A)
c.437C>A (n.437C>A)
c.748C>A (p.His250Asn)
c.3214C>A (p.His1072Asn)
c.656-997C>A (n.656-997C>A)
c.3145C>A (p.His1049Asn)
c.3208C>A (p.His1070Asn)
c.3196C>A (p.His1066Asn)
2g.144389880C>ACA348700255ZEB2c.*3065G>T (n.*3065G>T)
c.2439G>T (p.Gln813His)
c.3216G>T (p.Gln1072His)
n.3185G>T
c.2880G>T (p.Gln960His)
c.3291G>T (p.Gln1097His)
c.*2933G>T (n.*2933G>T)
n.3316G>T
c.151+6532G>T (n.151+6532G>T)
c.436G>T (n.436G>T)
c.747G>T (p.Gln249His)
c.3213G>T (p.Gln1071His)
c.656-998G>T (n.656-998G>T)
c.3144G>T (p.Gln1048His)
c.3207G>T (p.Gln1069His)
c.3195G>T (p.Gln1065His)
2g.144389880C>GCA348700257ZEB2c.*3065G>C (n.*3065G>C)
c.2439G>C (p.Gln813His)
c.3216G>C (p.Gln1072His)
n.3185G>C
c.2880G>C (p.Gln960His)
c.3291G>C (p.Gln1097His)
c.*2933G>C (n.*2933G>C)
n.3316G>C
c.151+6532G>C (n.151+6532G>C)
c.436G>C (n.436G>C)
c.747G>C (p.Gln249His)
c.3213G>C (p.Gln1071His)
c.656-998G>C (n.656-998G>C)
c.3144G>C (p.Gln1048His)
c.3207G>C (p.Gln1069His)
c.3195G>C (p.Gln1065His)
2g.144389880C>TCA429445384ZEB2c.*3065G>A (n.*3065G>A)
c.2439G>A (p.Gln813=)
c.3216G>A (p.Gln1072=)
n.3185G>A
c.2880G>A (p.Gln960=)
c.3291G>A (p.Gln1097=)
c.*2933G>A (n.*2933G>A)
n.3316G>A
c.151+6532G>A (n.151+6532G>A)
c.436G>A (n.436G>A)
c.747G>A (p.Gln249=)
c.3213G>A (p.Gln1071=)
c.656-998G>A (n.656-998G>A)
c.3144G>A (p.Gln1048=)
c.3207G>A (p.Gln1069=)
c.3195G>A (p.Gln1065=)
 gnomAD v4
2g.144389881T>ACA348700265ZEB2c.*3064A>T (n.*3064A>T)
c.2438A>T (p.Gln813Leu)
c.3215A>T (p.Gln1072Leu)
n.3184A>T
c.2879A>T (p.Gln960Leu)
c.3290A>T (p.Gln1097Leu)
c.*2932A>T (n.*2932A>T)
n.3315A>T
c.151+6531A>T (n.151+6531A>T)
c.435A>T (n.435A>T)
c.746A>T (p.Gln249Leu)
c.3212A>T (p.Gln1071Leu)
c.656-999A>T (n.656-999A>T)
c.3143A>T (p.Gln1048Leu)
c.3206A>T (p.Gln1069Leu)
c.3194A>T (p.Gln1065Leu)
2g.144389881T>CCA348700262ZEB2c.*3064A>G (n.*3064A>G)
c.2438A>G (p.Gln813Arg)
c.3215A>G (p.Gln1072Arg)
n.3184A>G
c.2879A>G (p.Gln960Arg)
c.3290A>G (p.Gln1097Arg)
c.*2932A>G (n.*2932A>G)
n.3315A>G
c.151+6531A>G (n.151+6531A>G)
c.435A>G (n.435A>G)
c.746A>G (p.Gln249Arg)
c.3212A>G (p.Gln1071Arg)
c.656-999A>G (n.656-999A>G)
c.3143A>G (p.Gln1048Arg)
c.3206A>G (p.Gln1069Arg)
c.3194A>G (p.Gln1065Arg)
2g.144389881T>GCA348700260ZEB2c.*3064A>C (n.*3064A>C)
c.2438A>C (p.Gln813Pro)
c.3215A>C (p.Gln1072Pro)
n.3184A>C
c.2879A>C (p.Gln960Pro)
c.3290A>C (p.Gln1097Pro)
c.*2932A>C (n.*2932A>C)
n.3315A>C
c.151+6531A>C (n.151+6531A>C)
c.435A>C (n.435A>C)
c.746A>C (p.Gln249Pro)
c.3212A>C (p.Gln1071Pro)
c.656-999A>C (n.656-999A>C)
c.3143A>C (p.Gln1048Pro)
c.3206A>C (p.Gln1069Pro)
c.3194A>C (p.Gln1065Pro)
2g.144389882G>ACA348700267ZEB2c.*3063C>T (n.*3063C>T)
c.2437C>T (p.Gln813Ter)
c.3214C>T (p.Gln1072Ter)
n.3183C>T
c.2878C>T (p.Gln960Ter)
c.3289C>T (p.Gln1097Ter)
c.*2931C>T (n.*2931C>T)
n.3314C>T
c.151+6530C>T (n.151+6530C>T)
c.434C>T (n.434C>T)
c.745C>T (p.Gln249Ter)
c.3211C>T (p.Gln1071Ter)
c.656-1000C>T (n.656-1000C>T)
c.3142C>T (p.Gln1048Ter)
c.3205C>T (p.Gln1069Ter)
c.3193C>T (p.Gln1065Ter)
 ClinVar dbSNP
2g.144389882G>CCA348700272ZEB2c.*3063C>G (n.*3063C>G)
c.2437C>G (p.Gln813Glu)
c.3214C>G (p.Gln1072Glu)
n.3183C>G
c.2878C>G (p.Gln960Glu)
c.3289C>G (p.Gln1097Glu)
c.*2931C>G (n.*2931C>G)
n.3314C>G
c.151+6530C>G (n.151+6530C>G)
c.434C>G (n.434C>G)
c.745C>G (p.Gln249Glu)
c.3211C>G (p.Gln1071Glu)
c.656-1000C>G (n.656-1000C>G)
c.3142C>G (p.Gln1048Glu)
c.3205C>G (p.Gln1069Glu)
c.3193C>G (p.Gln1065Glu)
2g.144389882G=CA1294881374ZEB2c.*3063C= (n.*3063C=)
c.2437C= (p.Gln813=)
c.3214C= (p.Gln1072=)
n.3183C=
c.2878C= (p.Gln960=)
c.3289C= (p.Gln1097=)
c.*2931C= (n.*2931C=)
n.3314C=
c.151+6530C= (n.151+6530C=)
c.434C= (n.434C=)
c.745C= (p.Gln249=)
c.3211C= (p.Gln1071=)
c.656-1000C= (n.656-1000C=)
c.3142C= (p.Gln1048=)
c.3205C= (p.Gln1069=)
c.3193C= (p.Gln1065=)
2g.144389882G>TCA348700286ZEB2c.*3063C>A (n.*3063C>A)
c.2437C>A (p.Gln813Lys)
c.3214C>A (p.Gln1072Lys)
n.3183C>A
c.2878C>A (p.Gln960Lys)
c.3289C>A (p.Gln1097Lys)
c.*2931C>A (n.*2931C>A)
n.3314C>A
c.151+6530C>A (n.151+6530C>A)
c.434C>A (n.434C>A)
c.745C>A (p.Gln249Lys)
c.3211C>A (p.Gln1071Lys)
c.656-1000C>A (n.656-1000C>A)
c.3142C>A (p.Gln1048Lys)
c.3205C>A (p.Gln1069Lys)
c.3193C>A (p.Gln1065Lys)
 COSMIC
2g.144389883C>ACA429445387ZEB2c.*3062G>T (n.*3062G>T)
c.2436G>T (p.Ser812=)
c.3213G>T (p.Ser1071=)
n.3182G>T
c.2877G>T (p.Ser959=)
c.3288G>T (p.Ser1096=)
c.*2930G>T (n.*2930G>T)
n.3313G>T
c.151+6529G>T (n.151+6529G>T)
c.433G>T (n.433G>T)
c.744G>T (p.Ser248=)
c.3210G>T (p.Ser1070=)
c.656-1001G>T (n.656-1001G>T)
c.3141G>T (p.Ser1047=)
c.3204G>T (p.Ser1068=)
c.3192G>T (p.Ser1064=)
 gnomAD v4
2g.144389883C>GCA429445390ZEB2c.*3062G>C (n.*3062G>C)
c.2436G>C (p.Ser812=)
c.3213G>C (p.Ser1071=)
n.3182G>C
c.2877G>C (p.Ser959=)
c.3288G>C (p.Ser1096=)
c.*2930G>C (n.*2930G>C)
n.3313G>C
c.151+6529G>C (n.151+6529G>C)
c.433G>C (n.433G>C)
c.744G>C (p.Ser248=)
c.3210G>C (p.Ser1070=)
c.656-1001G>C (n.656-1001G>C)
c.3141G>C (p.Ser1047=)
c.3204G>C (p.Ser1068=)
c.3192G>C (p.Ser1064=)
2g.144389883C>TCA429445391ZEB2c.*3062G>A (n.*3062G>A)
c.2436G>A (p.Ser812=)
c.3213G>A (p.Ser1071=)
n.3182G>A
c.2877G>A (p.Ser959=)
c.3288G>A (p.Ser1096=)
c.*2930G>A (n.*2930G>A)
n.3313G>A
c.151+6529G>A (n.151+6529G>A)
c.433G>A (n.433G>A)
c.744G>A (p.Ser248=)
c.3210G>A (p.Ser1070=)
c.656-1001G>A (n.656-1001G>A)
c.3141G>A (p.Ser1047=)
c.3204G>A (p.Ser1068=)
c.3192G>A (p.Ser1064=)
 COSMIC
2g.144389883_144389884insCCCA2739271219ZEB2c.*3062_*3063insGG (n.*3062_*3063insGG)
c.2436_2437insGG (p.Gln813GlyfsTer4)
c.3213_3214insGG (p.Gln1072GlyfsTer4)
n.3182_3183insGG
c.2877_2878insGG (p.Gln960GlyfsTer4)
c.3288_3289insGG (p.Gln1097GlyfsTer4)
c.*2930_*2931insGG (n.*2930_*2931insGG)
n.3313_3314insGG
c.151+6529_151+6530insGG (n.151+6529_151+6530insGG)
c.433_434insGG (n.433_434insGG)
c.744_745insGG (p.Gln249GlyfsTer4)
c.3210_3211insGG (p.Gln1071GlyfsTer4)
c.656-1001_656-1000insGG (n.656-1001_656-1000insGG)
c.3141_3142insGG (p.Gln1048GlyfsTer4)
c.3204_3205insGG (p.Gln1069GlyfsTer4)
c.3192_3193insGG (p.Gln1065GlyfsTer4)
 ClinVar
2g.144389883dupCA658795854ZEB2c.*3062dup (n.*3062dup)
c.2436dup (p.Gln813AlafsTer?)
c.3213dup (p.Gln1072AlafsTer?)
n.3182dup
c.2877dup (p.Gln960AlafsTer?)
c.3288dup (p.Gln1097AlafsTer?)
c.*2930dup (n.*2930dup)
n.3313dup
c.151+6529dup (n.151+6529dup)
c.433dup (n.433dup)
c.744dup (p.Gln249AlafsTer?)
c.3210dup (p.Gln1071AlafsTer?)
c.656-1001dup (n.656-1001dup)
c.3141dup (p.Gln1048AlafsTer?)
c.3204dup (p.Gln1069AlafsTer?)
c.3192dup (p.Gln1065AlafsTer?)
 ClinVar dbSNP
2g.144389887_144389892delCA2697551030ZEB2c.*3057_*3062del (n.*3057_*3062del)
c.2431_2436del (p.Tyr811_Ser812del)
c.3208_3213del (p.Tyr1070_Ser1071del)
n.3177_3182del
c.2872_2877del (p.Tyr958_Ser959del)
c.3283_3288del (p.Tyr1095_Ser1096del)
c.*2925_*2930del (n.*2925_*2930del)
n.3308_3313del
c.151+6524_151+6529del (n.151+6524_151+6529del)
c.428_433del (n.428_433del)
c.739_744del (p.Tyr247_Ser248del)
c.3205_3210del (p.Tyr1069_Ser1070del)
c.656-1006_656-1001del (n.656-1006_656-1001del)
c.3136_3141del (p.Tyr1046_Ser1047del)
c.3199_3204del (p.Tyr1067_Ser1068del)
c.3187_3192del (p.Tyr1063_Ser1064del)
 ClinVar
2g.144389884G>ACA348700291ZEB2c.*3061C>T (n.*3061C>T)
c.2435C>T (p.Ser812Leu)
c.3212C>T (p.Ser1071Leu)
n.3181C>T
c.2876C>T (p.Ser959Leu)
c.3287C>T (p.Ser1096Leu)
c.*2929C>T (n.*2929C>T)
n.3312C>T
c.151+6528C>T (n.151+6528C>T)
c.432C>T (n.432C>T)
c.743C>T (p.Ser248Leu)
c.3209C>T (p.Ser1070Leu)
c.656-1002C>T (n.656-1002C>T)
c.3140C>T (p.Ser1047Leu)
c.3203C>T (p.Ser1068Leu)
c.3191C>T (p.Ser1064Leu)
2g.144389884G>CCA348700293ZEB2c.*3061C>G (n.*3061C>G)
c.2435C>G (p.Ser812Trp)
c.3212C>G (p.Ser1071Trp)
n.3181C>G
c.2876C>G (p.Ser959Trp)
c.3287C>G (p.Ser1096Trp)
c.*2929C>G (n.*2929C>G)
n.3312C>G
c.151+6528C>G (n.151+6528C>G)
c.432C>G (n.432C>G)
c.743C>G (p.Ser248Trp)
c.3209C>G (p.Ser1070Trp)
c.656-1002C>G (n.656-1002C>G)
c.3140C>G (p.Ser1047Trp)
c.3203C>G (p.Ser1068Trp)
c.3191C>G (p.Ser1064Trp)
2g.144389884G>TCA348700295ZEB2c.*3061C>A (n.*3061C>A)
c.2435C>A (p.Ser812Ter)
c.3212C>A (p.Ser1071Ter)
n.3181C>A
c.2876C>A (p.Ser959Ter)
c.3287C>A (p.Ser1096Ter)
c.*2929C>A (n.*2929C>A)
n.3312C>A
c.151+6528C>A (n.151+6528C>A)
c.432C>A (n.432C>A)
c.743C>A (p.Ser248Ter)
c.3209C>A (p.Ser1070Ter)
c.656-1002C>A (n.656-1002C>A)
c.3140C>A (p.Ser1047Ter)
c.3203C>A (p.Ser1068Ter)
c.3191C>A (p.Ser1064Ter)
2g.144389884_144389885insTTGTTTCGACGACGAAAACATCACACACGTTGACGGAACCATCGACCCTATTCGCGATAAAGAAATTATCGACACCGAATTGCAACTTAAAGACCTTGAAACCATCGAAGGCCGATTGGCTAAAGACCAACA2543584745ZEB2c.*3060_*3061insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.*3060_*3061insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.2434_2435insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser812PhefsTer4)
c.3211_3212insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1071PhefsTer4)
n.3180_3181insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA
c.2875_2876insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser959PhefsTer4)
c.3286_3287insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1096PhefsTer4)
c.*2928_*2929insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.*2928_*2929insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
n.3311_3312insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA
c.151+6527_151+6528insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.151+6527_151+6528insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.431_432insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.431_432insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.742_743insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser248PhefsTer4)
c.3208_3209insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1070PhefsTer4)
c.656-1003_656-1002insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.656-1003_656-1002insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.3139_3140insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1047PhefsTer4)
c.3202_3203insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1068PhefsTer4)
c.3190_3191insTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1064PhefsTer4)
2g.144389884_144389885insTTGTTTCGACGACGAAAACATCACACACGTTGACGGAACCATCGACCCTATTCGCGATAAAGAAATTATCGACACCGAATTGCAACTTAAAGACCTTGAAACCATCGAAGGCCGATTGGCTAAAGACCAAACA2543354528ZEB2c.*3060_*3061insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.*3060_*3061insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.2434_2435insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser812PhefsTer48)
c.3211_3212insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1071PhefsTer48)
n.3180_3181insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA
c.2875_2876insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser959PhefsTer48)
c.3286_3287insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1096PhefsTer48)
c.*2928_*2929insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.*2928_*2929insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
n.3311_3312insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA
c.151+6527_151+6528insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.151+6527_151+6528insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.431_432insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.431_432insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.742_743insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser248PhefsTer48)
c.3208_3209insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1070PhefsTer48)
c.656-1003_656-1002insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (n.656-1003_656-1002insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA)
c.3139_3140insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1047PhefsTer48)
c.3202_3203insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1068PhefsTer48)
c.3190_3191insTTTGGTCTTTAGCCAATCGGCCTTCGATGGTTTCAAGGTCTTTAAGTTGCAATTCGGTGTCGATAATTTCTTTATCGCGAATAGGGTCGATGGTTCCGTCAACGTGTGTGATGTTTTCGTCGTCGAAACAA (p.Ser1064PhefsTer48)
2g.144389885A=CA1294881375ZEB2c.*3060T= (n.*3060T=)
c.2434T= (p.Ser812=)
c.3211T= (p.Ser1071=)
n.3180T=
c.2875T= (p.Ser959=)
c.3286T= (p.Ser1096=)
c.*2928T= (n.*2928T=)
n.3311T=
c.151+6527T= (n.151+6527T=)
c.431T= (n.431T=)
c.742T= (p.Ser248=)
c.3208T= (p.Ser1070=)
c.656-1003T= (n.656-1003T=)
c.3139T= (p.Ser1047=)
c.3202T= (p.Ser1068=)
c.3190T= (p.Ser1064=)
2g.144389885A>CCA348700298ZEB2c.*3060T>G (n.*3060T>G)
c.2434T>G (p.Ser812Ala)
c.3211T>G (p.Ser1071Ala)
n.3180T>G
c.2875T>G (p.Ser959Ala)
c.3286T>G (p.Ser1096Ala)
c.*2928T>G (n.*2928T>G)
n.3311T>G
c.151+6527T>G (n.151+6527T>G)
c.431T>G (n.431T>G)
c.742T>G (p.Ser248Ala)
c.3208T>G (p.Ser1070Ala)
c.656-1003T>G (n.656-1003T>G)
c.3139T>G (p.Ser1047Ala)
c.3202T>G (p.Ser1068Ala)
c.3190T>G (p.Ser1064Ala)
2g.144389885A>GCA284669ZEB2c.*3060T>C (n.*3060T>C)
c.2434T>C (p.Ser812Pro)
c.3211T>C (p.Ser1071Pro)
n.3180T>C
c.2875T>C (p.Ser959Pro)
c.3286T>C (p.Ser1096Pro)
c.*2928T>C (n.*2928T>C)
n.3311T>C
c.151+6527T>C (n.151+6527T>C)
c.431T>C (n.431T>C)
c.742T>C (p.Ser248Pro)
c.3208T>C (p.Ser1070Pro)
c.656-1003T>C (n.656-1003T>C)
c.3139T>C (p.Ser1047Pro)
c.3202T>C (p.Ser1068Pro)
c.3190T>C (p.Ser1064Pro)
 ClinVar dbSNP
2g.144389885A>TCA348700302ZEB2c.*3060T>A (n.*3060T>A)
c.2434T>A (p.Ser812Thr)
c.3211T>A (p.Ser1071Thr)
n.3180T>A
c.2875T>A (p.Ser959Thr)
c.3286T>A (p.Ser1096Thr)
c.*2928T>A (n.*2928T>A)
n.3311T>A
c.151+6527T>A (n.151+6527T>A)
c.431T>A (n.431T>A)
c.742T>A (p.Ser248Thr)
c.3208T>A (p.Ser1070Thr)
c.656-1003T>A (n.656-1003T>A)
c.3139T>A (p.Ser1047Thr)
c.3202T>A (p.Ser1068Thr)
c.3190T>A (p.Ser1064Thr)
2g.144389886G>ACA429445398ZEB2c.*3059C>T (n.*3059C>T)
c.2433C>T (p.Tyr811=)
c.3210C>T (p.Tyr1070=)
n.3179C>T
c.2874C>T (p.Tyr958=)
c.3285C>T (p.Tyr1095=)
c.*2927C>T (n.*2927C>T)
n.3310C>T
c.151+6526C>T (n.151+6526C>T)
c.430C>T (n.430C>T)
c.741C>T (p.Tyr247=)
c.3207C>T (p.Tyr1069=)
c.656-1004C>T (n.656-1004C>T)
c.3138C>T (p.Tyr1046=)
c.3201C>T (p.Tyr1067=)
c.3189C>T (p.Tyr1063=)
 gnomAD v4
2g.144389886G>CCA348700303ZEB2c.*3059C>G (n.*3059C>G)
c.2433C>G (p.Tyr811Ter)
c.3210C>G (p.Tyr1070Ter)
n.3179C>G
c.2874C>G (p.Tyr958Ter)
c.3285C>G (p.Tyr1095Ter)
c.*2927C>G (n.*2927C>G)
n.3310C>G
c.151+6526C>G (n.151+6526C>G)
c.430C>G (n.430C>G)
c.741C>G (p.Tyr247Ter)
c.3207C>G (p.Tyr1069Ter)
c.656-1004C>G (n.656-1004C>G)
c.3138C>G (p.Tyr1046Ter)
c.3201C>G (p.Tyr1067Ter)
c.3189C>G (p.Tyr1063Ter)
 ClinVar dbSNP
2g.144389886G>TCA348700304ZEB2c.*3059C>A (n.*3059C>A)
c.2433C>A (p.Tyr811Ter)
c.3210C>A (p.Tyr1070Ter)
n.3179C>A
c.2874C>A (p.Tyr958Ter)
c.3285C>A (p.Tyr1095Ter)
c.*2927C>A (n.*2927C>A)
n.3310C>A
c.151+6526C>A (n.151+6526C>A)
c.430C>A (n.430C>A)
c.741C>A (p.Tyr247Ter)
c.3207C>A (p.Tyr1069Ter)
c.656-1004C>A (n.656-1004C>A)
c.3138C>A (p.Tyr1046Ter)
c.3201C>A (p.Tyr1067Ter)
c.3189C>A (p.Tyr1063Ter)
 ClinVar
2g.144389887T>ACA348700309ZEB2c.*3058A>T (n.*3058A>T)
c.2432A>T (p.Tyr811Phe)
c.3209A>T (p.Tyr1070Phe)
n.3178A>T
c.2873A>T (p.Tyr958Phe)
c.3284A>T (p.Tyr1095Phe)
c.*2926A>T (n.*2926A>T)
n.3309A>T
c.151+6525A>T (n.151+6525A>T)
c.429A>T (n.429A>T)
c.740A>T (p.Tyr247Phe)
c.3206A>T (p.Tyr1069Phe)
c.656-1005A>T (n.656-1005A>T)
c.3137A>T (p.Tyr1046Phe)
c.3200A>T (p.Tyr1067Phe)
c.3188A>T (p.Tyr1063Phe)
2g.144389887T>CCA348700308ZEB2c.*3058A>G (n.*3058A>G)
c.2432A>G (p.Tyr811Cys)
c.3209A>G (p.Tyr1070Cys)
n.3178A>G
c.2873A>G (p.Tyr958Cys)
c.3284A>G (p.Tyr1095Cys)
c.*2926A>G (n.*2926A>G)
n.3309A>G
c.151+6525A>G (n.151+6525A>G)
c.429A>G (n.429A>G)
c.740A>G (p.Tyr247Cys)
c.3206A>G (p.Tyr1069Cys)
c.656-1005A>G (n.656-1005A>G)
c.3137A>G (p.Tyr1046Cys)
c.3200A>G (p.Tyr1067Cys)
c.3188A>G (p.Tyr1063Cys)
2g.144389887T>GCA348700306ZEB2c.*3058A>C (n.*3058A>C)
c.2432A>C (p.Tyr811Ser)
c.3209A>C (p.Tyr1070Ser)
n.3178A>C
c.2873A>C (p.Tyr958Ser)
c.3284A>C (p.Tyr1095Ser)
c.*2926A>C (n.*2926A>C)
n.3309A>C
c.151+6525A>C (n.151+6525A>C)
c.429A>C (n.429A>C)
c.740A>C (p.Tyr247Ser)
c.3206A>C (p.Tyr1069Ser)
c.656-1005A>C (n.656-1005A>C)
c.3137A>C (p.Tyr1046Ser)
c.3200A>C (p.Tyr1067Ser)
c.3188A>C (p.Tyr1063Ser)
2g.144389887_144389888insTCCA2573133426ZEB2c.*3057_*3058insGA (n.*3057_*3058insGA)
c.2431_2432insGA (p.Tyr811Ter)
c.3208_3209insGA (p.Tyr1070Ter)
n.3177_3178insGA
c.2872_2873insGA (p.Tyr958Ter)
c.3283_3284insGA (p.Tyr1095Ter)
c.*2925_*2926insGA (n.*2925_*2926insGA)
n.3308_3309insGA
c.151+6524_151+6525insGA (n.151+6524_151+6525insGA)
c.428_429insGA (n.428_429insGA)
c.739_740insGA (p.Tyr247Ter)
c.3205_3206insGA (p.Tyr1069Ter)
c.656-1006_656-1005insGA (n.656-1006_656-1005insGA)
c.3136_3137insGA (p.Tyr1046Ter)
c.3199_3200insGA (p.Tyr1067Ter)
c.3187_3188insGA (p.Tyr1063Ter)
 ClinVar dbSNP
2g.144389888A>CCA348700310ZEB2c.*3057T>G (n.*3057T>G)
c.2431T>G (p.Tyr811Asp)
c.3208T>G (p.Tyr1070Asp)
n.3177T>G
c.2872T>G (p.Tyr958Asp)
c.3283T>G (p.Tyr1095Asp)
c.*2925T>G (n.*2925T>G)
n.3308T>G
c.151+6524T>G (n.151+6524T>G)
c.428T>G (n.428T>G)
c.739T>G (p.Tyr247Asp)
c.3205T>G (p.Tyr1069Asp)
c.656-1006T>G (n.656-1006T>G)
c.3136T>G (p.Tyr1046Asp)
c.3199T>G (p.Tyr1067Asp)
c.3187T>G (p.Tyr1063Asp)
2g.144389888A>GCA348700311ZEB2c.*3057T>C (n.*3057T>C)
c.2431T>C (p.Tyr811His)
c.3208T>C (p.Tyr1070His)
n.3177T>C
c.2872T>C (p.Tyr958His)
c.3283T>C (p.Tyr1095His)
c.*2925T>C (n.*2925T>C)
n.3308T>C
c.151+6524T>C (n.151+6524T>C)
c.428T>C (n.428T>C)
c.739T>C (p.Tyr247His)
c.3205T>C (p.Tyr1069His)
c.656-1006T>C (n.656-1006T>C)
c.3136T>C (p.Tyr1046His)
c.3199T>C (p.Tyr1067His)
c.3187T>C (p.Tyr1063His)
2g.144389888A>TCA348700312ZEB2c.*3057T>A (n.*3057T>A)
c.2431T>A (p.Tyr811Asn)
c.3208T>A (p.Tyr1070Asn)
n.3177T>A
c.2872T>A (p.Tyr958Asn)
c.3283T>A (p.Tyr1095Asn)
c.*2925T>A (n.*2925T>A)
n.3308T>A
c.151+6524T>A (n.151+6524T>A)
c.428T>A (n.428T>A)
c.739T>A (p.Tyr247Asn)
c.3205T>A (p.Tyr1069Asn)
c.656-1006T>A (n.656-1006T>A)
c.3136T>A (p.Tyr1046Asn)
c.3199T>A (p.Tyr1067Asn)
c.3187T>A (p.Tyr1063Asn)
2g.144389888_144389894delinsACGAGCCCA1294881376ZEB2c.*3051_*3057delinsGGCTCGT (n.*3051_*3057delinsGGCTCGT)
c.2425_2431delinsGGCTCGT (p.Gly809=)
c.3202_3208delinsGGCTCGT (p.Gly1068=)
n.3171_3177delinsGGCTCGT
c.2866_2872delinsGGCTCGT (p.Gly956=)
c.3277_3283delinsGGCTCGT (p.Gly1093=)
c.*2919_*2925delinsGGCTCGT (n.*2919_*2925delinsGGCTCGT)
n.3302_3308delinsGGCTCGT
c.151+6518_151+6524delinsGGCTCGT (n.151+6518_151+6524delinsGGCTCGT)
c.422_428delinsGGCTCGT (n.422_428delinsGGCTCGT)
c.733_739delinsGGCTCGT (p.Gly245=)
c.3199_3205delinsGGCTCGT (p.Gly1067=)
c.656-1012_656-1006delinsGGCTCGT (n.656-1012_656-1006delinsGGCTCGT)
c.3130_3136delinsGGCTCGT (p.Gly1044=)
c.3193_3199delinsGGCTCGT (p.Gly1065=)
c.3181_3187delinsGGCTCGT (p.Gly1061=)
2g.144389889C>ACA429445409ZEB2c.*3056G>T (n.*3056G>T)
c.2430G>T (p.Ser810=)
c.3207G>T (p.Ser1069=)
n.3176G>T
c.2871G>T (p.Ser957=)
c.3282G>T (p.Ser1094=)
c.*2924G>T (n.*2924G>T)
n.3307G>T
c.151+6523G>T (n.151+6523G>T)
c.427G>T (n.427G>T)
c.738G>T (p.Ser246=)
c.3204G>T (p.Ser1068=)
c.656-1007G>T (n.656-1007G>T)
c.3135G>T (p.Ser1045=)
c.3198G>T (p.Ser1066=)
c.3186G>T (p.Ser1062=)
2g.144389889C=CA1294881377ZEB2c.*3056G= (n.*3056G=)
c.2430G= (p.Ser810=)
c.3207G= (p.Ser1069=)
n.3176G=
c.2871G= (p.Ser957=)
c.3282G= (p.Ser1094=)
c.*2924G= (n.*2924G=)
n.3307G=
c.151+6523G= (n.151+6523G=)
c.427G= (n.427G=)
c.738G= (p.Ser246=)
c.3204G= (p.Ser1068=)
c.656-1007G= (n.656-1007G=)
c.3135G= (p.Ser1045=)
c.3198G= (p.Ser1066=)
c.3186G= (p.Ser1062=)
2g.144389889C>GCA1898137ZEB2c.*3056G>C (n.*3056G>C)
c.2430G>C (p.Ser810=)
c.3207G>C (p.Ser1069=)
n.3176G>C
c.2871G>C (p.Ser957=)
c.3282G>C (p.Ser1094=)
c.*2924G>C (n.*2924G>C)
n.3307G>C
c.151+6523G>C (n.151+6523G>C)
c.427G>C (n.427G>C)
c.738G>C (p.Ser246=)
c.3204G>C (p.Ser1068=)
c.656-1007G>C (n.656-1007G>C)
c.3135G>C (p.Ser1045=)
c.3198G>C (p.Ser1066=)
c.3186G>C (p.Ser1062=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144389889C>TCA429445410ZEB2c.*3056G>A (n.*3056G>A)
c.2430G>A (p.Ser810=)
c.3207G>A (p.Ser1069=)
n.3176G>A
c.2871G>A (p.Ser957=)
c.3282G>A (p.Ser1094=)
c.*2924G>A (n.*2924G>A)
n.3307G>A
c.151+6523G>A (n.151+6523G>A)
c.427G>A (n.427G>A)
c.738G>A (p.Ser246=)
c.3204G>A (p.Ser1068=)
c.656-1007G>A (n.656-1007G>A)
c.3135G>A (p.Ser1045=)
c.3198G>A (p.Ser1066=)
c.3186G>A (p.Ser1062=)
 COSMIC
2g.144389893_144389898delCA658795855ZEB2c.*3051_*3056del (n.*3051_*3056del)
c.2425_2430del (p.Gly809_Ser810del)
c.3202_3207del (p.Gly1068_Ser1069del)
n.3171_3176del
c.2866_2871del (p.Gly956_Ser957del)
c.3277_3282del (p.Gly1093_Ser1094del)
c.*2919_*2924del (n.*2919_*2924del)
n.3302_3307del
c.151+6518_151+6523del (n.151+6518_151+6523del)
c.422_427del (n.422_427del)
c.733_738del (p.Gly245_Ser246del)
c.3199_3204del (p.Gly1067_Ser1068del)
c.656-1012_656-1007del (n.656-1012_656-1007del)
c.3130_3135del (p.Gly1044_Ser1045del)
c.3193_3198del (p.Gly1065_Ser1066del)
c.3181_3186del (p.Gly1061_Ser1062del)
 ClinVar dbSNP
2g.144389890G>ACA348700328ZEB2c.*3055C>T (n.*3055C>T)
c.2429C>T (p.Ser810Leu)
c.3206C>T (p.Ser1069Leu)
n.3175C>T
c.2870C>T (p.Ser957Leu)
c.3281C>T (p.Ser1094Leu)
c.*2923C>T (n.*2923C>T)
n.3306C>T
c.151+6522C>T (n.151+6522C>T)
c.426C>T (n.426C>T)
c.737C>T (p.Ser246Leu)
c.3203C>T (p.Ser1068Leu)
c.656-1008C>T (n.656-1008C>T)
c.3134C>T (p.Ser1045Leu)
c.3197C>T (p.Ser1066Leu)
c.3185C>T (p.Ser1062Leu)
 ClinVar
2g.144389890G>CCA348700332ZEB2c.*3055C>G (n.*3055C>G)
c.2429C>G (p.Ser810Trp)
c.3206C>G (p.Ser1069Trp)
n.3175C>G
c.2870C>G (p.Ser957Trp)
c.3281C>G (p.Ser1094Trp)
c.*2923C>G (n.*2923C>G)
n.3306C>G
c.151+6522C>G (n.151+6522C>G)
c.426C>G (n.426C>G)
c.737C>G (p.Ser246Trp)
c.3203C>G (p.Ser1068Trp)
c.656-1008C>G (n.656-1008C>G)
c.3134C>G (p.Ser1045Trp)
c.3197C>G (p.Ser1066Trp)
c.3185C>G (p.Ser1062Trp)
 ClinVar dbSNP
2g.144389890G=CA1294881378ZEB2c.*3055C= (n.*3055C=)
c.2429C= (p.Ser810=)
c.3206C= (p.Ser1069=)
n.3175C=
c.2870C= (p.Ser957=)
c.3281C= (p.Ser1094=)
c.*2923C= (n.*2923C=)
n.3306C=
c.151+6522C= (n.151+6522C=)
c.426C= (n.426C=)
c.737C= (p.Ser246=)
c.3203C= (p.Ser1068=)
c.656-1008C= (n.656-1008C=)
c.3134C= (p.Ser1045=)
c.3197C= (p.Ser1066=)
c.3185C= (p.Ser1062=)
2g.144389890G>TCA348700336ZEB2c.*3055C>A (n.*3055C>A)
c.2429C>A (p.Ser810Ter)
c.3206C>A (p.Ser1069Ter)
n.3175C>A
c.2870C>A (p.Ser957Ter)
c.3281C>A (p.Ser1094Ter)
c.*2923C>A (n.*2923C>A)
n.3306C>A
c.151+6522C>A (n.151+6522C>A)
c.426C>A (n.426C>A)
c.737C>A (p.Ser246Ter)
c.3203C>A (p.Ser1068Ter)
c.656-1008C>A (n.656-1008C>A)
c.3134C>A (p.Ser1045Ter)
c.3197C>A (p.Ser1066Ter)
c.3185C>A (p.Ser1062Ter)
 ClinVar dbSNP
2g.144389891A>CCA348700343ZEB2c.*3054T>G (n.*3054T>G)
c.2428T>G (p.Ser810Ala)
c.3205T>G (p.Ser1069Ala)
n.3174T>G
c.2869T>G (p.Ser957Ala)
c.3280T>G (p.Ser1094Ala)
c.*2922T>G (n.*2922T>G)
n.3305T>G
c.151+6521T>G (n.151+6521T>G)
c.425T>G (n.425T>G)
c.736T>G (p.Ser246Ala)
c.3202T>G (p.Ser1068Ala)
c.656-1009T>G (n.656-1009T>G)
c.3133T>G (p.Ser1045Ala)
c.3196T>G (p.Ser1066Ala)
c.3184T>G (p.Ser1062Ala)
2g.144389891A>GCA348700362ZEB2c.*3054T>C (n.*3054T>C)
c.2428T>C (p.Ser810Pro)
c.3205T>C (p.Ser1069Pro)
n.3174T>C
c.2869T>C (p.Ser957Pro)
c.3280T>C (p.Ser1094Pro)
c.*2922T>C (n.*2922T>C)
n.3305T>C
c.151+6521T>C (n.151+6521T>C)
c.425T>C (n.425T>C)
c.736T>C (p.Ser246Pro)
c.3202T>C (p.Ser1068Pro)
c.656-1009T>C (n.656-1009T>C)
c.3133T>C (p.Ser1045Pro)
c.3196T>C (p.Ser1066Pro)
c.3184T>C (p.Ser1062Pro)
2g.144389891A>TCA348700358ZEB2c.*3054T>A (n.*3054T>A)
c.2428T>A (p.Ser810Thr)
c.3205T>A (p.Ser1069Thr)
n.3174T>A
c.2869T>A (p.Ser957Thr)
c.3280T>A (p.Ser1094Thr)
c.*2922T>A (n.*2922T>A)
n.3305T>A
c.151+6521T>A (n.151+6521T>A)
c.425T>A (n.425T>A)
c.736T>A (p.Ser246Thr)
c.3202T>A (p.Ser1068Thr)
c.656-1009T>A (n.656-1009T>A)
c.3133T>A (p.Ser1045Thr)
c.3196T>A (p.Ser1066Thr)
c.3184T>A (p.Ser1062Thr)
2g.144389892G>ACA429445413ZEB2c.*3053C>T (n.*3053C>T)
c.2427C>T (p.Gly809=)
c.3204C>T (p.Gly1068=)
n.3173C>T
c.2868C>T (p.Gly956=)
c.3279C>T (p.Gly1093=)
c.*2921C>T (n.*2921C>T)
n.3304C>T
c.151+6520C>T (n.151+6520C>T)
c.424C>T (n.424C>T)
c.735C>T (p.Gly245=)
c.3201C>T (p.Gly1067=)
c.656-1010C>T (n.656-1010C>T)
c.3132C>T (p.Gly1044=)
c.3195C>T (p.Gly1065=)
c.3183C>T (p.Gly1061=)
2g.144389892G>CCA1898138ZEB2c.*3053C>G (n.*3053C>G)
c.2427C>G (p.Gly809=)
c.3204C>G (p.Gly1068=)
n.3173C>G
c.2868C>G (p.Gly956=)
c.3279C>G (p.Gly1093=)
c.*2921C>G (n.*2921C>G)
n.3304C>G
c.151+6520C>G (n.151+6520C>G)
c.424C>G (n.424C>G)
c.735C>G (p.Gly245=)
c.3201C>G (p.Gly1067=)
c.656-1010C>G (n.656-1010C>G)
c.3132C>G (p.Gly1044=)
c.3195C>G (p.Gly1065=)
c.3183C>G (p.Gly1061=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389892G=CA1294881379ZEB2c.*3053C= (n.*3053C=)
c.2427C= (p.Gly809=)
c.3204C= (p.Gly1068=)
n.3173C=
c.2868C= (p.Gly956=)
c.3279C= (p.Gly1093=)
c.*2921C= (n.*2921C=)
n.3304C=
c.151+6520C= (n.151+6520C=)
c.424C= (n.424C=)
c.735C= (p.Gly245=)
c.3201C= (p.Gly1067=)
c.656-1010C= (n.656-1010C=)
c.3132C= (p.Gly1044=)
c.3195C= (p.Gly1065=)
c.3183C= (p.Gly1061=)
2g.144389892G>TCA429445416ZEB2c.*3053C>A (n.*3053C>A)
c.2427C>A (p.Gly809=)
c.3204C>A (p.Gly1068=)
n.3173C>A
c.2868C>A (p.Gly956=)
c.3279C>A (p.Gly1093=)
c.*2921C>A (n.*2921C>A)
n.3304C>A
c.151+6520C>A (n.151+6520C>A)
c.424C>A (n.424C>A)
c.735C>A (p.Gly245=)
c.3201C>A (p.Gly1067=)
c.656-1010C>A (n.656-1010C>A)
c.3132C>A (p.Gly1044=)
c.3195C>A (p.Gly1065=)
c.3183C>A (p.Gly1061=)
 ClinVar gnomAD v4
2g.144389893C>ACA348700365ZEB2c.*3052G>T (n.*3052G>T)
c.2426G>T (p.Gly809Val)
c.3203G>T (p.Gly1068Val)
n.3172G>T
c.2867G>T (p.Gly956Val)
c.3278G>T (p.Gly1093Val)
c.*2920G>T (n.*2920G>T)
n.3303G>T
c.151+6519G>T (n.151+6519G>T)
c.423G>T (n.423G>T)
c.734G>T (p.Gly245Val)
c.3200G>T (p.Gly1067Val)
c.656-1011G>T (n.656-1011G>T)
c.3131G>T (p.Gly1044Val)
c.3194G>T (p.Gly1065Val)
c.3182G>T (p.Gly1061Val)
2g.144389893C>GCA348700367ZEB2c.*3052G>C (n.*3052G>C)
c.2426G>C (p.Gly809Ala)
c.3203G>C (p.Gly1068Ala)
n.3172G>C
c.2867G>C (p.Gly956Ala)
c.3278G>C (p.Gly1093Ala)
c.*2920G>C (n.*2920G>C)
n.3303G>C
c.151+6519G>C (n.151+6519G>C)
c.423G>C (n.423G>C)
c.734G>C (p.Gly245Ala)
c.3200G>C (p.Gly1067Ala)
c.656-1011G>C (n.656-1011G>C)
c.3131G>C (p.Gly1044Ala)
c.3194G>C (p.Gly1065Ala)
c.3182G>C (p.Gly1061Ala)
2g.144389893C>TCA348700370ZEB2c.*3052G>A (n.*3052G>A)
c.2426G>A (p.Gly809Asp)
c.3203G>A (p.Gly1068Asp)
n.3172G>A
c.2867G>A (p.Gly956Asp)
c.3278G>A (p.Gly1093Asp)
c.*2920G>A (n.*2920G>A)
n.3303G>A
c.151+6519G>A (n.151+6519G>A)
c.423G>A (n.423G>A)
c.734G>A (p.Gly245Asp)
c.3200G>A (p.Gly1067Asp)
c.656-1011G>A (n.656-1011G>A)
c.3131G>A (p.Gly1044Asp)
c.3194G>A (p.Gly1065Asp)
c.3182G>A (p.Gly1061Asp)
2g.144389895delCA2580063846ZEB2c.*3052del (n.*3052del)
c.2426del (p.Gly809AlafsTer7)
c.3203del (p.Gly1068AlafsTer7)
n.3172del
c.2867del (p.Gly956AlafsTer7)
c.3278del (p.Gly1093AlafsTer7)
c.*2920del (n.*2920del)
n.3303del
c.151+6519del (n.151+6519del)
c.423del (n.423del)
c.734del (p.Gly245AlafsTer7)
c.3200del (p.Gly1067AlafsTer7)
c.656-1011del (n.656-1011del)
c.3131del (p.Gly1044AlafsTer7)
c.3194del (p.Gly1065AlafsTer7)
c.3182del (p.Gly1061AlafsTer7)
 ClinVar
2g.144389894C>ACA348700377ZEB2c.*3051G>T (n.*3051G>T)
c.2425G>T (p.Gly809Cys)
c.3202G>T (p.Gly1068Cys)
n.3171G>T
c.2866G>T (p.Gly956Cys)
c.3277G>T (p.Gly1093Cys)
c.*2919G>T (n.*2919G>T)
n.3302G>T
c.151+6518G>T (n.151+6518G>T)
c.422G>T (n.422G>T)
c.733G>T (p.Gly245Cys)
c.3199G>T (p.Gly1067Cys)
c.656-1012G>T (n.656-1012G>T)
c.3130G>T (p.Gly1044Cys)
c.3193G>T (p.Gly1065Cys)
c.3181G>T (p.Gly1061Cys)
2g.144389894C>GCA348700375ZEB2c.*3051G>C (n.*3051G>C)
c.2425G>C (p.Gly809Arg)
c.3202G>C (p.Gly1068Arg)
n.3171G>C
c.2866G>C (p.Gly956Arg)
c.3277G>C (p.Gly1093Arg)
c.*2919G>C (n.*2919G>C)
n.3302G>C
c.151+6518G>C (n.151+6518G>C)
c.422G>C (n.422G>C)
c.733G>C (p.Gly245Arg)
c.3199G>C (p.Gly1067Arg)
c.656-1012G>C (n.656-1012G>C)
c.3130G>C (p.Gly1044Arg)
c.3193G>C (p.Gly1065Arg)
c.3181G>C (p.Gly1061Arg)
2g.144389894C>TCA348700376ZEB2c.*3051G>A (n.*3051G>A)
c.2425G>A (p.Gly809Ser)
c.3202G>A (p.Gly1068Ser)
n.3171G>A
c.2866G>A (p.Gly956Ser)
c.3277G>A (p.Gly1093Ser)
c.*2919G>A (n.*2919G>A)
n.3302G>A
c.151+6518G>A (n.151+6518G>A)
c.422G>A (n.422G>A)
c.733G>A (p.Gly245Ser)
c.3199G>A (p.Gly1067Ser)
c.656-1012G>A (n.656-1012G>A)
c.3130G>A (p.Gly1044Ser)
c.3193G>A (p.Gly1065Ser)
c.3181G>A (p.Gly1061Ser)
 ClinVar dbSNP
2g.144389894_144389898delCA2573133427ZEB2c.*3047_*3051del (n.*3047_*3051del)
c.2421_2425del (p.His807GlnfsTer?)
c.3198_3202del (p.His1066GlnfsTer?)
n.3167_3171del
c.2862_2866del (p.His954GlnfsTer?)
c.3273_3277del (p.His1091GlnfsTer?)
c.*2915_*2919del (n.*2915_*2919del)
n.3298_3302del
c.151+6514_151+6518del (n.151+6514_151+6518del)
c.418_422del (n.418_422del)
c.729_733del (p.His243GlnfsTer?)
c.3195_3199del (p.His1065GlnfsTer?)
c.656-1016_656-1012del (n.656-1016_656-1012del)
c.3126_3130del (p.His1042GlnfsTer?)
c.3189_3193del (p.His1063GlnfsTer?)
c.3177_3181del (p.His1059GlnfsTer?)
 ClinVar dbSNP
2g.144389895C>ACA429445421ZEB2c.*3050G>T (n.*3050G>T)
c.2424G>T (p.Ser808=)
c.3201G>T (p.Ser1067=)
n.3170G>T
c.2865G>T (p.Ser955=)
c.3276G>T (p.Ser1092=)
c.*2918G>T (n.*2918G>T)
n.3301G>T
c.151+6517G>T (n.151+6517G>T)
c.421G>T (n.421G>T)
c.732G>T (p.Ser244=)
c.3198G>T (p.Ser1066=)
c.656-1013G>T (n.656-1013G>T)
c.3129G>T (p.Ser1043=)
c.3192G>T (p.Ser1064=)
c.3180G>T (p.Ser1060=)
2g.144389895C=CA1294881380ZEB2c.*3050G= (n.*3050G=)
c.2424G= (p.Ser808=)
c.3201G= (p.Ser1067=)
n.3170G=
c.2865G= (p.Ser955=)
c.3276G= (p.Ser1092=)
c.*2918G= (n.*2918G=)
n.3301G=
c.151+6517G= (n.151+6517G=)
c.421G= (n.421G=)
c.732G= (p.Ser244=)
c.3198G= (p.Ser1066=)
c.656-1013G= (n.656-1013G=)
c.3129G= (p.Ser1043=)
c.3192G= (p.Ser1064=)
c.3180G= (p.Ser1060=)
2g.144389895C>GCA429445424ZEB2c.*3050G>C (n.*3050G>C)
c.2424G>C (p.Ser808=)
c.3201G>C (p.Ser1067=)
n.3170G>C
c.2865G>C (p.Ser955=)
c.3276G>C (p.Ser1092=)
c.*2918G>C (n.*2918G>C)
n.3301G>C
c.151+6517G>C (n.151+6517G>C)
c.421G>C (n.421G>C)
c.732G>C (p.Ser244=)
c.3198G>C (p.Ser1066=)
c.656-1013G>C (n.656-1013G>C)
c.3129G>C (p.Ser1043=)
c.3192G>C (p.Ser1064=)
c.3180G>C (p.Ser1060=)
2g.144389895C>TCA297572ZEB2c.*3050G>A (n.*3050G>A)
c.2424G>A (p.Ser808=)
c.3201G>A (p.Ser1067=)
n.3170G>A
c.2865G>A (p.Ser955=)
c.3276G>A (p.Ser1092=)
c.*2918G>A (n.*2918G>A)
n.3301G>A
c.151+6517G>A (n.151+6517G>A)
c.421G>A (n.421G>A)
c.732G>A (p.Ser244=)
c.3198G>A (p.Ser1066=)
c.656-1013G>A (n.656-1013G>A)
c.3129G>A (p.Ser1043=)
c.3192G>A (p.Ser1064=)
c.3180G>A (p.Ser1060=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389896G>ACA348700380ZEB2c.*3049C>T (n.*3049C>T)
c.2423C>T (p.Ser808Leu)
c.3200C>T (p.Ser1067Leu)
n.3169C>T
c.2864C>T (p.Ser955Leu)
c.3275C>T (p.Ser1092Leu)
c.*2917C>T (n.*2917C>T)
n.3300C>T
c.151+6516C>T (n.151+6516C>T)
c.420C>T (n.420C>T)
c.731C>T (p.Ser244Leu)
c.3197C>T (p.Ser1066Leu)
c.656-1014C>T (n.656-1014C>T)
c.3128C>T (p.Ser1043Leu)
c.3191C>T (p.Ser1064Leu)
c.3179C>T (p.Ser1060Leu)
2g.144389896G>CCA348700382ZEB2c.*3049C>G (n.*3049C>G)
c.2423C>G (p.Ser808Trp)
c.3200C>G (p.Ser1067Trp)
n.3169C>G
c.2864C>G (p.Ser955Trp)
c.3275C>G (p.Ser1092Trp)
c.*2917C>G (n.*2917C>G)
n.3300C>G
c.151+6516C>G (n.151+6516C>G)
c.420C>G (n.420C>G)
c.731C>G (p.Ser244Trp)
c.3197C>G (p.Ser1066Trp)
c.656-1014C>G (n.656-1014C>G)
c.3128C>G (p.Ser1043Trp)
c.3191C>G (p.Ser1064Trp)
c.3179C>G (p.Ser1060Trp)
2g.144389896G=CA1294881381ZEB2c.*3049C= (n.*3049C=)
c.2423C= (p.Ser808=)
c.3200C= (p.Ser1067=)
n.3169C=
c.2864C= (p.Ser955=)
c.3275C= (p.Ser1092=)
c.*2917C= (n.*2917C=)
n.3300C=
c.151+6516C= (n.151+6516C=)
c.420C= (n.420C=)
c.731C= (p.Ser244=)
c.3197C= (p.Ser1066=)
c.656-1014C= (n.656-1014C=)
c.3128C= (p.Ser1043=)
c.3191C= (p.Ser1064=)
c.3179C= (p.Ser1060=)
2g.144389896G>TCA348700385ZEB2c.*3049C>A (n.*3049C>A)
c.2423C>A (p.Ser808Ter)
c.3200C>A (p.Ser1067Ter)
n.3169C>A
c.2864C>A (p.Ser955Ter)
c.3275C>A (p.Ser1092Ter)
c.*2917C>A (n.*2917C>A)
n.3300C>A
c.151+6516C>A (n.151+6516C>A)
c.420C>A (n.420C>A)
c.731C>A (p.Ser244Ter)
c.3197C>A (p.Ser1066Ter)
c.656-1014C>A (n.656-1014C>A)
c.3128C>A (p.Ser1043Ter)
c.3191C>A (p.Ser1064Ter)
c.3179C>A (p.Ser1060Ter)
 ClinVar dbSNP gnomAD v2
2g.144389897A>CCA348700387ZEB2c.*3048T>G (n.*3048T>G)
c.2422T>G (p.Ser808Ala)
c.3199T>G (p.Ser1067Ala)
n.3168T>G
c.2863T>G (p.Ser955Ala)
c.3274T>G (p.Ser1092Ala)
c.*2916T>G (n.*2916T>G)
n.3299T>G
c.151+6515T>G (n.151+6515T>G)
c.419T>G (n.419T>G)
c.730T>G (p.Ser244Ala)
c.3196T>G (p.Ser1066Ala)
c.656-1015T>G (n.656-1015T>G)
c.3127T>G (p.Ser1043Ala)
c.3190T>G (p.Ser1064Ala)
c.3178T>G (p.Ser1060Ala)
2g.144389897A>GCA348700401ZEB2c.*3048T>C (n.*3048T>C)
c.2422T>C (p.Ser808Pro)
c.3199T>C (p.Ser1067Pro)
n.3168T>C
c.2863T>C (p.Ser955Pro)
c.3274T>C (p.Ser1092Pro)
c.*2916T>C (n.*2916T>C)
n.3299T>C
c.151+6515T>C (n.151+6515T>C)
c.419T>C (n.419T>C)
c.730T>C (p.Ser244Pro)
c.3196T>C (p.Ser1066Pro)
c.656-1015T>C (n.656-1015T>C)
c.3127T>C (p.Ser1043Pro)
c.3190T>C (p.Ser1064Pro)
c.3178T>C (p.Ser1060Pro)
2g.144389897A>TCA348700402ZEB2c.*3048T>A (n.*3048T>A)
c.2422T>A (p.Ser808Thr)
c.3199T>A (p.Ser1067Thr)
n.3168T>A
c.2863T>A (p.Ser955Thr)
c.3274T>A (p.Ser1092Thr)
c.*2916T>A (n.*2916T>A)
n.3299T>A
c.151+6515T>A (n.151+6515T>A)
c.419T>A (n.419T>A)
c.730T>A (p.Ser244Thr)
c.3196T>A (p.Ser1066Thr)
c.656-1015T>A (n.656-1015T>A)
c.3127T>A (p.Ser1043Thr)
c.3190T>A (p.Ser1064Thr)
c.3178T>A (p.Ser1060Thr)
2g.144389898G>ACA429445428ZEB2c.*3047C>T (n.*3047C>T)
c.2421C>T (p.His807=)
c.3198C>T (p.His1066=)
n.3167C>T
c.2862C>T (p.His954=)
c.3273C>T (p.His1091=)
c.*2915C>T (n.*2915C>T)
n.3298C>T
c.151+6514C>T (n.151+6514C>T)
c.418C>T (n.418C>T)
c.729C>T (p.His243=)
c.3195C>T (p.His1065=)
c.656-1016C>T (n.656-1016C>T)
c.3126C>T (p.His1042=)
c.3189C>T (p.His1063=)
c.3177C>T (p.His1059=)
2g.144389898G>CCA348700406ZEB2c.*3047C>G (n.*3047C>G)
c.2421C>G (p.His807Gln)
c.3198C>G (p.His1066Gln)
n.3167C>G
c.2862C>G (p.His954Gln)
c.3273C>G (p.His1091Gln)
c.*2915C>G (n.*2915C>G)
n.3298C>G
c.151+6514C>G (n.151+6514C>G)
c.418C>G (n.418C>G)
c.729C>G (p.His243Gln)
c.3195C>G (p.His1065Gln)
c.656-1016C>G (n.656-1016C>G)
c.3126C>G (p.His1042Gln)
c.3189C>G (p.His1063Gln)
c.3177C>G (p.His1059Gln)
2g.144389898G>TCA348700410ZEB2c.*3047C>A (n.*3047C>A)
c.2421C>A (p.His807Gln)
c.3198C>A (p.His1066Gln)
n.3167C>A
c.2862C>A (p.His954Gln)
c.3273C>A (p.His1091Gln)
c.*2915C>A (n.*2915C>A)
n.3298C>A
c.151+6514C>A (n.151+6514C>A)
c.418C>A (n.418C>A)
c.729C>A (p.His243Gln)
c.3195C>A (p.His1065Gln)
c.656-1016C>A (n.656-1016C>A)
c.3126C>A (p.His1042Gln)
c.3189C>A (p.His1063Gln)
c.3177C>A (p.His1059Gln)
2g.144389899T>ACA348700414ZEB2c.*3046A>T (n.*3046A>T)
c.2420A>T (p.His807Leu)
c.3197A>T (p.His1066Leu)
n.3166A>T
c.2861A>T (p.His954Leu)
c.3272A>T (p.His1091Leu)
c.*2914A>T (n.*2914A>T)
n.3297A>T
c.151+6513A>T (n.151+6513A>T)
c.417A>T (n.417A>T)
c.728A>T (p.His243Leu)
c.3194A>T (p.His1065Leu)
c.656-1017A>T (n.656-1017A>T)
c.3125A>T (p.His1042Leu)
c.3188A>T (p.His1063Leu)
c.3176A>T (p.His1059Leu)
2g.144389899T>CCA348700416ZEB2c.*3046A>G (n.*3046A>G)
c.2420A>G (p.His807Arg)
c.3197A>G (p.His1066Arg)
n.3166A>G
c.2861A>G (p.His954Arg)
c.3272A>G (p.His1091Arg)
c.*2914A>G (n.*2914A>G)
n.3297A>G
c.151+6513A>G (n.151+6513A>G)
c.417A>G (n.417A>G)
c.728A>G (p.His243Arg)
c.3194A>G (p.His1065Arg)
c.656-1017A>G (n.656-1017A>G)
c.3125A>G (p.His1042Arg)
c.3188A>G (p.His1063Arg)
c.3176A>G (p.His1059Arg)
2g.144389899T>GCA348700419ZEB2c.*3046A>C (n.*3046A>C)
c.2420A>C (p.His807Pro)
c.3197A>C (p.His1066Pro)
n.3166A>C
c.2861A>C (p.His954Pro)
c.3272A>C (p.His1091Pro)
c.*2914A>C (n.*2914A>C)
n.3297A>C
c.151+6513A>C (n.151+6513A>C)
c.417A>C (n.417A>C)
c.728A>C (p.His243Pro)
c.3194A>C (p.His1065Pro)
c.656-1017A>C (n.656-1017A>C)
c.3125A>C (p.His1042Pro)
c.3188A>C (p.His1063Pro)
c.3176A>C (p.His1059Pro)
2g.144389900G>ACA348700424ZEB2c.*3045C>T (n.*3045C>T)
c.2419C>T (p.His807Tyr)
c.3196C>T (p.His1066Tyr)
n.3165C>T
c.2860C>T (p.His954Tyr)
c.3271C>T (p.His1091Tyr)
c.*2913C>T (n.*2913C>T)
n.3296C>T
c.151+6512C>T (n.151+6512C>T)
c.416C>T (n.416C>T)
c.727C>T (p.His243Tyr)
c.3193C>T (p.His1065Tyr)
c.656-1018C>T (n.656-1018C>T)
c.3124C>T (p.His1042Tyr)
c.3187C>T (p.His1063Tyr)
c.3175C>T (p.His1059Tyr)
 ClinVar dbSNP
2g.144389900G>CCA348700427ZEB2c.*3045C>G (n.*3045C>G)
c.2419C>G (p.His807Asp)
c.3196C>G (p.His1066Asp)
n.3165C>G
c.2860C>G (p.His954Asp)
c.3271C>G (p.His1091Asp)
c.*2913C>G (n.*2913C>G)
n.3296C>G
c.151+6512C>G (n.151+6512C>G)
c.416C>G (n.416C>G)
c.727C>G (p.His243Asp)
c.3193C>G (p.His1065Asp)
c.656-1018C>G (n.656-1018C>G)
c.3124C>G (p.His1042Asp)
c.3187C>G (p.His1063Asp)
c.3175C>G (p.His1059Asp)
2g.144389900G=CA1294881382ZEB2c.*3045C= (n.*3045C=)
c.2419C= (p.His807=)
c.3196C= (p.His1066=)
n.3165C=
c.2860C= (p.His954=)
c.3271C= (p.His1091=)
c.*2913C= (n.*2913C=)
n.3296C=
c.151+6512C= (n.151+6512C=)
c.416C= (n.416C=)
c.727C= (p.His243=)
c.3193C= (p.His1065=)
c.656-1018C= (n.656-1018C=)
c.3124C= (p.His1042=)
c.3187C= (p.His1063=)
c.3175C= (p.His1059=)
2g.144389900G>TCA348700425ZEB2c.*3045C>A (n.*3045C>A)
c.2419C>A (p.His807Asn)
c.3196C>A (p.His1066Asn)
n.3165C>A
c.2860C>A (p.His954Asn)
c.3271C>A (p.His1091Asn)
c.*2913C>A (n.*2913C>A)
n.3296C>A
c.151+6512C>A (n.151+6512C>A)
c.416C>A (n.416C>A)
c.727C>A (p.His243Asn)
c.3193C>A (p.His1065Asn)
c.656-1018C>A (n.656-1018C>A)
c.3124C>A (p.His1042Asn)
c.3187C>A (p.His1063Asn)
c.3175C>A (p.His1059Asn)
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)

Number of alleles fetched