Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.144389910C>ACA348700526ZEB2c.*3035G>T (n.*3035G>T)
c.2409G>T (p.Lys803Asn)
c.3186G>T (p.Lys1062Asn)
n.3155G>T
c.2850G>T (p.Lys950Asn)
c.3261G>T (p.Lys1087Asn)
c.*2903G>T (n.*2903G>T)
n.3286G>T
c.151+6502G>T (n.151+6502G>T)
c.406G>T (n.406G>T)
c.717G>T (p.Lys239Asn)
c.3183G>T (p.Lys1061Asn)
c.656-1028G>T (n.656-1028G>T)
c.3114G>T (p.Lys1038Asn)
c.3177G>T (p.Lys1059Asn)
c.3165G>T (p.Lys1055Asn)
2g.144389910C>GCA348700543ZEB2c.*3035G>C (n.*3035G>C)
c.2409G>C (p.Lys803Asn)
c.3186G>C (p.Lys1062Asn)
n.3155G>C
c.2850G>C (p.Lys950Asn)
c.3261G>C (p.Lys1087Asn)
c.*2903G>C (n.*2903G>C)
n.3286G>C
c.151+6502G>C (n.151+6502G>C)
c.406G>C (n.406G>C)
c.717G>C (p.Lys239Asn)
c.3183G>C (p.Lys1061Asn)
c.656-1028G>C (n.656-1028G>C)
c.3114G>C (p.Lys1038Asn)
c.3177G>C (p.Lys1059Asn)
c.3165G>C (p.Lys1055Asn)
2g.144389910C>TCA429445450ZEB2c.*3035G>A (n.*3035G>A)
c.2409G>A (p.Lys803=)
c.3186G>A (p.Lys1062=)
n.3155G>A
c.2850G>A (p.Lys950=)
c.3261G>A (p.Lys1087=)
c.*2903G>A (n.*2903G>A)
n.3286G>A
c.151+6502G>A (n.151+6502G>A)
c.406G>A (n.406G>A)
c.717G>A (p.Lys239=)
c.3183G>A (p.Lys1061=)
c.656-1028G>A (n.656-1028G>A)
c.3114G>A (p.Lys1038=)
c.3177G>A (p.Lys1059=)
c.3165G>A (p.Lys1055=)
2g.144389911T>ACA348700549ZEB2c.*3034A>T (n.*3034A>T)
c.2408A>T (p.Lys803Met)
c.3185A>T (p.Lys1062Met)
n.3154A>T
c.2849A>T (p.Lys950Met)
c.3260A>T (p.Lys1087Met)
c.*2902A>T (n.*2902A>T)
n.3285A>T
c.151+6501A>T (n.151+6501A>T)
c.405A>T (n.405A>T)
c.716A>T (p.Lys239Met)
c.3182A>T (p.Lys1061Met)
c.656-1029A>T (n.656-1029A>T)
c.3113A>T (p.Lys1038Met)
c.3176A>T (p.Lys1059Met)
c.3164A>T (p.Lys1055Met)
2g.144389911T>CCA348700552ZEB2c.*3034A>G (n.*3034A>G)
c.2408A>G (p.Lys803Arg)
c.3185A>G (p.Lys1062Arg)
n.3154A>G
c.2849A>G (p.Lys950Arg)
c.3260A>G (p.Lys1087Arg)
c.*2902A>G (n.*2902A>G)
n.3285A>G
c.151+6501A>G (n.151+6501A>G)
c.405A>G (n.405A>G)
c.716A>G (p.Lys239Arg)
c.3182A>G (p.Lys1061Arg)
c.656-1029A>G (n.656-1029A>G)
c.3113A>G (p.Lys1038Arg)
c.3176A>G (p.Lys1059Arg)
c.3164A>G (p.Lys1055Arg)
2g.144389911T>GCA348700553ZEB2c.*3034A>C (n.*3034A>C)
c.2408A>C (p.Lys803Thr)
c.3185A>C (p.Lys1062Thr)
n.3154A>C
c.2849A>C (p.Lys950Thr)
c.3260A>C (p.Lys1087Thr)
c.*2902A>C (n.*2902A>C)
n.3285A>C
c.151+6501A>C (n.151+6501A>C)
c.405A>C (n.405A>C)
c.716A>C (p.Lys239Thr)
c.3182A>C (p.Lys1061Thr)
c.656-1029A>C (n.656-1029A>C)
c.3113A>C (p.Lys1038Thr)
c.3176A>C (p.Lys1059Thr)
c.3164A>C (p.Lys1055Thr)
2g.144389912T>ACA348700561ZEB2c.*3033A>T (n.*3033A>T)
c.2407A>T (p.Lys803Ter)
c.3184A>T (p.Lys1062Ter)
n.3153A>T
c.2848A>T (p.Lys950Ter)
c.3259A>T (p.Lys1087Ter)
c.*2901A>T (n.*2901A>T)
n.3284A>T
c.151+6500A>T (n.151+6500A>T)
c.404A>T (n.404A>T)
c.715A>T (p.Lys239Ter)
c.3181A>T (p.Lys1061Ter)
c.656-1030A>T (n.656-1030A>T)
c.3112A>T (p.Lys1038Ter)
c.3175A>T (p.Lys1059Ter)
c.3163A>T (p.Lys1055Ter)
2g.144389912T>CCA348700560ZEB2c.*3033A>G (n.*3033A>G)
c.2407A>G (p.Lys803Glu)
c.3184A>G (p.Lys1062Glu)
n.3153A>G
c.2848A>G (p.Lys950Glu)
c.3259A>G (p.Lys1087Glu)
c.*2901A>G (n.*2901A>G)
n.3284A>G
c.151+6500A>G (n.151+6500A>G)
c.404A>G (n.404A>G)
c.715A>G (p.Lys239Glu)
c.3181A>G (p.Lys1061Glu)
c.656-1030A>G (n.656-1030A>G)
c.3112A>G (p.Lys1038Glu)
c.3175A>G (p.Lys1059Glu)
c.3163A>G (p.Lys1055Glu)
2g.144389912T>GCA348700559ZEB2c.*3033A>C (n.*3033A>C)
c.2407A>C (p.Lys803Gln)
c.3184A>C (p.Lys1062Gln)
n.3153A>C
c.2848A>C (p.Lys950Gln)
c.3259A>C (p.Lys1087Gln)
c.*2901A>C (n.*2901A>C)
n.3284A>C
c.151+6500A>C (n.151+6500A>C)
c.404A>C (n.404A>C)
c.715A>C (p.Lys239Gln)
c.3181A>C (p.Lys1061Gln)
c.656-1030A>C (n.656-1030A>C)
c.3112A>C (p.Lys1038Gln)
c.3175A>C (p.Lys1059Gln)
c.3163A>C (p.Lys1055Gln)
2g.144389913G>ACA429445455ZEB2c.*3032C>T (n.*3032C>T)
c.2406C>T (p.Gly802=)
c.3183C>T (p.Gly1061=)
n.3152C>T
c.2847C>T (p.Gly949=)
c.3258C>T (p.Gly1086=)
c.*2900C>T (n.*2900C>T)
n.3283C>T
c.151+6499C>T (n.151+6499C>T)
c.403C>T (n.403C>T)
c.714C>T (p.Gly238=)
c.3180C>T (p.Gly1060=)
c.656-1031C>T (n.656-1031C>T)
c.3111C>T (p.Gly1037=)
c.3174C>T (p.Gly1058=)
c.3162C>T (p.Gly1054=)
2g.144389913G>CCA429445457ZEB2c.*3032C>G (n.*3032C>G)
c.2406C>G (p.Gly802=)
c.3183C>G (p.Gly1061=)
n.3152C>G
c.2847C>G (p.Gly949=)
c.3258C>G (p.Gly1086=)
c.*2900C>G (n.*2900C>G)
n.3283C>G
c.151+6499C>G (n.151+6499C>G)
c.403C>G (n.403C>G)
c.714C>G (p.Gly238=)
c.3180C>G (p.Gly1060=)
c.656-1031C>G (n.656-1031C>G)
c.3111C>G (p.Gly1037=)
c.3174C>G (p.Gly1058=)
c.3162C>G (p.Gly1054=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389913G=CA1294881384ZEB2c.*3032C= (n.*3032C=)
c.2406C= (p.Gly802=)
c.3183C= (p.Gly1061=)
n.3152C=
c.2847C= (p.Gly949=)
c.3258C= (p.Gly1086=)
c.*2900C= (n.*2900C=)
n.3283C=
c.151+6499C= (n.151+6499C=)
c.403C= (n.403C=)
c.714C= (p.Gly238=)
c.3180C= (p.Gly1060=)
c.656-1031C= (n.656-1031C=)
c.3111C= (p.Gly1037=)
c.3174C= (p.Gly1058=)
c.3162C= (p.Gly1054=)
2g.144389913G>TCA429445458ZEB2c.*3032C>A (n.*3032C>A)
c.2406C>A (p.Gly802=)
c.3183C>A (p.Gly1061=)
n.3152C>A
c.2847C>A (p.Gly949=)
c.3258C>A (p.Gly1086=)
c.*2900C>A (n.*2900C>A)
n.3283C>A
c.151+6499C>A (n.151+6499C>A)
c.403C>A (n.403C>A)
c.714C>A (p.Gly238=)
c.3180C>A (p.Gly1060=)
c.656-1031C>A (n.656-1031C>A)
c.3111C>A (p.Gly1037=)
c.3174C>A (p.Gly1058=)
c.3162C>A (p.Gly1054=)
 gnomAD v4
2g.144389914C>ACA348700563ZEB2c.*3031G>T (n.*3031G>T)
c.2405G>T (p.Gly802Val)
c.3182G>T (p.Gly1061Val)
n.3151G>T
c.2846G>T (p.Gly949Val)
c.3257G>T (p.Gly1086Val)
c.*2899G>T (n.*2899G>T)
n.3282G>T
c.151+6498G>T (n.151+6498G>T)
c.402G>T (n.402G>T)
c.713G>T (p.Gly238Val)
c.3179G>T (p.Gly1060Val)
c.656-1032G>T (n.656-1032G>T)
c.3110G>T (p.Gly1037Val)
c.3173G>T (p.Gly1058Val)
c.3161G>T (p.Gly1054Val)
2g.144389914C>GCA348700573ZEB2c.*3031G>C (n.*3031G>C)
c.2405G>C (p.Gly802Ala)
c.3182G>C (p.Gly1061Ala)
n.3151G>C
c.2846G>C (p.Gly949Ala)
c.3257G>C (p.Gly1086Ala)
c.*2899G>C (n.*2899G>C)
n.3282G>C
c.151+6498G>C (n.151+6498G>C)
c.402G>C (n.402G>C)
c.713G>C (p.Gly238Ala)
c.3179G>C (p.Gly1060Ala)
c.656-1032G>C (n.656-1032G>C)
c.3110G>C (p.Gly1037Ala)
c.3173G>C (p.Gly1058Ala)
c.3161G>C (p.Gly1054Ala)
2g.144389914C>TCA348700571ZEB2c.*3031G>A (n.*3031G>A)
c.2405G>A (p.Gly802Asp)
c.3182G>A (p.Gly1061Asp)
n.3151G>A
c.2846G>A (p.Gly949Asp)
c.3257G>A (p.Gly1086Asp)
c.*2899G>A (n.*2899G>A)
n.3282G>A
c.151+6498G>A (n.151+6498G>A)
c.402G>A (n.402G>A)
c.713G>A (p.Gly238Asp)
c.3179G>A (p.Gly1060Asp)
c.656-1032G>A (n.656-1032G>A)
c.3110G>A (p.Gly1037Asp)
c.3173G>A (p.Gly1058Asp)
c.3161G>A (p.Gly1054Asp)
2g.144389915C>ACA348700574ZEB2c.*3030G>T (n.*3030G>T)
c.2404G>T (p.Gly802Cys)
c.3181G>T (p.Gly1061Cys)
n.3150G>T
c.2845G>T (p.Gly949Cys)
c.3256G>T (p.Gly1086Cys)
c.*2898G>T (n.*2898G>T)
n.3281G>T
c.151+6497G>T (n.151+6497G>T)
c.401G>T (n.401G>T)
c.712G>T (p.Gly238Cys)
c.3178G>T (p.Gly1060Cys)
c.656-1033G>T (n.656-1033G>T)
c.3109G>T (p.Gly1037Cys)
c.3172G>T (p.Gly1058Cys)
c.3160G>T (p.Gly1054Cys)
2g.144389915C=CA1294881385ZEB2c.*3030G= (n.*3030G=)
c.2404G= (p.Gly802=)
c.3181G= (p.Gly1061=)
n.3150G=
c.2845G= (p.Gly949=)
c.3256G= (p.Gly1086=)
c.*2898G= (n.*2898G=)
n.3281G=
c.151+6497G= (n.151+6497G=)
c.401G= (n.401G=)
c.712G= (p.Gly238=)
c.3178G= (p.Gly1060=)
c.656-1033G= (n.656-1033G=)
c.3109G= (p.Gly1037=)
c.3172G= (p.Gly1058=)
c.3160G= (p.Gly1054=)
2g.144389915C>GCA348700576ZEB2c.*3030G>C (n.*3030G>C)
c.2404G>C (p.Gly802Arg)
c.3181G>C (p.Gly1061Arg)
n.3150G>C
c.2845G>C (p.Gly949Arg)
c.3256G>C (p.Gly1086Arg)
c.*2898G>C (n.*2898G>C)
n.3281G>C
c.151+6497G>C (n.151+6497G>C)
c.401G>C (n.401G>C)
c.712G>C (p.Gly238Arg)
c.3178G>C (p.Gly1060Arg)
c.656-1033G>C (n.656-1033G>C)
c.3109G>C (p.Gly1037Arg)
c.3172G>C (p.Gly1058Arg)
c.3160G>C (p.Gly1054Arg)
 gnomAD v4
2g.144389915C>TCA1898139ZEB2c.*3030G>A (n.*3030G>A)
c.2404G>A (p.Gly802Ser)
c.3181G>A (p.Gly1061Ser)
n.3150G>A
c.2845G>A (p.Gly949Ser)
c.3256G>A (p.Gly1086Ser)
c.*2898G>A (n.*2898G>A)
n.3281G>A
c.151+6497G>A (n.151+6497G>A)
c.401G>A (n.401G>A)
c.712G>A (p.Gly238Ser)
c.3178G>A (p.Gly1060Ser)
c.656-1033G>A (n.656-1033G>A)
c.3109G>A (p.Gly1037Ser)
c.3172G>A (p.Gly1058Ser)
c.3160G>A (p.Gly1054Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389916A=CA1294881386ZEB2c.*3029T= (n.*3029T=)
c.2403T= (p.Cys801=)
c.3180T= (p.Cys1060=)
n.3149T=
c.2844T= (p.Cys948=)
c.3255T= (p.Cys1085=)
c.*2897T= (n.*2897T=)
n.3280T=
c.151+6496T= (n.151+6496T=)
c.400T= (n.400T=)
c.711T= (p.Cys237=)
c.3177T= (p.Cys1059=)
c.656-1034T= (n.656-1034T=)
c.3108T= (p.Cys1036=)
c.3171T= (p.Cys1057=)
c.3159T= (p.Cys1053=)
2g.144389916A>CCA348700582ZEB2c.*3029T>G (n.*3029T>G)
c.2403T>G (p.Cys801Trp)
c.3180T>G (p.Cys1060Trp)
n.3149T>G
c.2844T>G (p.Cys948Trp)
c.3255T>G (p.Cys1085Trp)
c.*2897T>G (n.*2897T>G)
n.3280T>G
c.151+6496T>G (n.151+6496T>G)
c.400T>G (n.400T>G)
c.711T>G (p.Cys237Trp)
c.3177T>G (p.Cys1059Trp)
c.656-1034T>G (n.656-1034T>G)
c.3108T>G (p.Cys1036Trp)
c.3171T>G (p.Cys1057Trp)
c.3159T>G (p.Cys1053Trp)
 ClinVar dbSNP
2g.144389916A>GCA429445462ZEB2c.*3029T>C (n.*3029T>C)
c.2403T>C (p.Cys801=)
c.3180T>C (p.Cys1060=)
n.3149T>C
c.2844T>C (p.Cys948=)
c.3255T>C (p.Cys1085=)
c.*2897T>C (n.*2897T>C)
n.3280T>C
c.151+6496T>C (n.151+6496T>C)
c.400T>C (n.400T>C)
c.711T>C (p.Cys237=)
c.3177T>C (p.Cys1059=)
c.656-1034T>C (n.656-1034T>C)
c.3108T>C (p.Cys1036=)
c.3171T>C (p.Cys1057=)
c.3159T>C (p.Cys1053=)
 dbSNP gnomAD v4
2g.144389916A>TCA348700587ZEB2c.*3029T>A (n.*3029T>A)
c.2403T>A (p.Cys801Ter)
c.3180T>A (p.Cys1060Ter)
n.3149T>A
c.2844T>A (p.Cys948Ter)
c.3255T>A (p.Cys1085Ter)
c.*2897T>A (n.*2897T>A)
n.3280T>A
c.151+6496T>A (n.151+6496T>A)
c.400T>A (n.400T>A)
c.711T>A (p.Cys237Ter)
c.3177T>A (p.Cys1059Ter)
c.656-1034T>A (n.656-1034T>A)
c.3108T>A (p.Cys1036Ter)
c.3171T>A (p.Cys1057Ter)
c.3159T>A (p.Cys1053Ter)
2g.144389917C>ACA348700592ZEB2c.*3028G>T (n.*3028G>T)
c.2402G>T (p.Cys801Phe)
c.3179G>T (p.Cys1060Phe)
n.3148G>T
c.2843G>T (p.Cys948Phe)
c.3254G>T (p.Cys1085Phe)
c.*2896G>T (n.*2896G>T)
n.3279G>T
c.151+6495G>T (n.151+6495G>T)
c.399G>T (n.399G>T)
c.710G>T (p.Cys237Phe)
c.3176G>T (p.Cys1059Phe)
c.656-1035G>T (n.656-1035G>T)
c.3107G>T (p.Cys1036Phe)
c.3170G>T (p.Cys1057Phe)
c.3158G>T (p.Cys1053Phe)
2g.144389917C>GCA348700595ZEB2c.*3028G>C (n.*3028G>C)
c.2402G>C (p.Cys801Ser)
c.3179G>C (p.Cys1060Ser)
n.3148G>C
c.2843G>C (p.Cys948Ser)
c.3254G>C (p.Cys1085Ser)
c.*2896G>C (n.*2896G>C)
n.3279G>C
c.151+6495G>C (n.151+6495G>C)
c.399G>C (n.399G>C)
c.710G>C (p.Cys237Ser)
c.3176G>C (p.Cys1059Ser)
c.656-1035G>C (n.656-1035G>C)
c.3107G>C (p.Cys1036Ser)
c.3170G>C (p.Cys1057Ser)
c.3158G>C (p.Cys1053Ser)
2g.144389917C>TCA348700600ZEB2c.*3028G>A (n.*3028G>A)
c.2402G>A (p.Cys801Tyr)
c.3179G>A (p.Cys1060Tyr)
n.3148G>A
c.2843G>A (p.Cys948Tyr)
c.3254G>A (p.Cys1085Tyr)
c.*2896G>A (n.*2896G>A)
n.3279G>A
c.151+6495G>A (n.151+6495G>A)
c.399G>A (n.399G>A)
c.710G>A (p.Cys237Tyr)
c.3176G>A (p.Cys1059Tyr)
c.656-1035G>A (n.656-1035G>A)
c.3107G>A (p.Cys1036Tyr)
c.3170G>A (p.Cys1057Tyr)
c.3158G>A (p.Cys1053Tyr)
2g.144389918A>CCA348700613ZEB2c.*3027T>G (n.*3027T>G)
c.2401T>G (p.Cys801Gly)
c.3178T>G (p.Cys1060Gly)
n.3147T>G
c.2842T>G (p.Cys948Gly)
c.3253T>G (p.Cys1085Gly)
c.*2895T>G (n.*2895T>G)
n.3278T>G
c.151+6494T>G (n.151+6494T>G)
c.398T>G (n.398T>G)
c.709T>G (p.Cys237Gly)
c.3175T>G (p.Cys1059Gly)
c.656-1036T>G (n.656-1036T>G)
c.3106T>G (p.Cys1036Gly)
c.3169T>G (p.Cys1057Gly)
c.3157T>G (p.Cys1053Gly)
2g.144389918A>GCA348700625ZEB2c.*3027T>C (n.*3027T>C)
c.2401T>C (p.Cys801Arg)
c.3178T>C (p.Cys1060Arg)
n.3147T>C
c.2842T>C (p.Cys948Arg)
c.3253T>C (p.Cys1085Arg)
c.*2895T>C (n.*2895T>C)
n.3278T>C
c.151+6494T>C (n.151+6494T>C)
c.398T>C (n.398T>C)
c.709T>C (p.Cys237Arg)
c.3175T>C (p.Cys1059Arg)
c.656-1036T>C (n.656-1036T>C)
c.3106T>C (p.Cys1036Arg)
c.3169T>C (p.Cys1057Arg)
c.3157T>C (p.Cys1053Arg)
 ClinVar dbSNP
2g.144389918A>TCA348700631ZEB2c.*3027T>A (n.*3027T>A)
c.2401T>A (p.Cys801Ser)
c.3178T>A (p.Cys1060Ser)
n.3147T>A
c.2842T>A (p.Cys948Ser)
c.3253T>A (p.Cys1085Ser)
c.*2895T>A (n.*2895T>A)
n.3278T>A
c.151+6494T>A (n.151+6494T>A)
c.398T>A (n.398T>A)
c.709T>A (p.Cys237Ser)
c.3175T>A (p.Cys1059Ser)
c.656-1036T>A (n.656-1036T>A)
c.3106T>A (p.Cys1036Ser)
c.3169T>A (p.Cys1057Ser)
c.3157T>A (p.Cys1053Ser)
2g.144389919T>ACA348700634ZEB2c.*3026A>T (n.*3026A>T)
c.2400A>T (p.Lys800Asn)
c.3177A>T (p.Lys1059Asn)
n.3146A>T
c.2841A>T (p.Lys947Asn)
c.3252A>T (p.Lys1084Asn)
c.*2894A>T (n.*2894A>T)
n.3277A>T
c.151+6493A>T (n.151+6493A>T)
c.397A>T (n.397A>T)
c.708A>T (p.Lys236Asn)
c.3174A>T (p.Lys1058Asn)
c.656-1037A>T (n.656-1037A>T)
c.3105A>T (p.Lys1035Asn)
c.3168A>T (p.Lys1056Asn)
c.3156A>T (p.Lys1052Asn)
2g.144389919T>CCA429445466ZEB2c.*3026A>G (n.*3026A>G)
c.2400A>G (p.Lys800=)
c.3177A>G (p.Lys1059=)
n.3146A>G
c.2841A>G (p.Lys947=)
c.3252A>G (p.Lys1084=)
c.*2894A>G (n.*2894A>G)
n.3277A>G
c.151+6493A>G (n.151+6493A>G)
c.397A>G (n.397A>G)
c.708A>G (p.Lys236=)
c.3174A>G (p.Lys1058=)
c.656-1037A>G (n.656-1037A>G)
c.3105A>G (p.Lys1035=)
c.3168A>G (p.Lys1056=)
c.3156A>G (p.Lys1052=)
2g.144389919T>GCA348700635ZEB2c.*3026A>C (n.*3026A>C)
c.2400A>C (p.Lys800Asn)
c.3177A>C (p.Lys1059Asn)
n.3146A>C
c.2841A>C (p.Lys947Asn)
c.3252A>C (p.Lys1084Asn)
c.*2894A>C (n.*2894A>C)
n.3277A>C
c.151+6493A>C (n.151+6493A>C)
c.397A>C (n.397A>C)
c.708A>C (p.Lys236Asn)
c.3174A>C (p.Lys1058Asn)
c.656-1037A>C (n.656-1037A>C)
c.3105A>C (p.Lys1035Asn)
c.3168A>C (p.Lys1056Asn)
c.3156A>C (p.Lys1052Asn)
2g.144389920T>ACA348700647ZEB2c.*3025A>T (n.*3025A>T)
c.2399A>T (p.Lys800Ile)
c.3176A>T (p.Lys1059Ile)
n.3145A>T
c.2840A>T (p.Lys947Ile)
c.3251A>T (p.Lys1084Ile)
c.*2893A>T (n.*2893A>T)
n.3276A>T
c.151+6492A>T (n.151+6492A>T)
c.396A>T (n.396A>T)
c.707A>T (p.Lys236Ile)
c.3173A>T (p.Lys1058Ile)
c.656-1038A>T (n.656-1038A>T)
c.3104A>T (p.Lys1035Ile)
c.3167A>T (p.Lys1056Ile)
c.3155A>T (p.Lys1052Ile)
2g.144389920T>CCA348700638ZEB2c.*3025A>G (n.*3025A>G)
c.2399A>G (p.Lys800Arg)
c.3176A>G (p.Lys1059Arg)
n.3145A>G
c.2840A>G (p.Lys947Arg)
c.3251A>G (p.Lys1084Arg)
c.*2893A>G (n.*2893A>G)
n.3276A>G
c.151+6492A>G (n.151+6492A>G)
c.396A>G (n.396A>G)
c.707A>G (p.Lys236Arg)
c.3173A>G (p.Lys1058Arg)
c.656-1038A>G (n.656-1038A>G)
c.3104A>G (p.Lys1035Arg)
c.3167A>G (p.Lys1056Arg)
c.3155A>G (p.Lys1052Arg)
 gnomAD v4
2g.144389920T>GCA348700636ZEB2c.*3025A>C (n.*3025A>C)
c.2399A>C (p.Lys800Thr)
c.3176A>C (p.Lys1059Thr)
n.3145A>C
c.2840A>C (p.Lys947Thr)
c.3251A>C (p.Lys1084Thr)
c.*2893A>C (n.*2893A>C)
n.3276A>C
c.151+6492A>C (n.151+6492A>C)
c.396A>C (n.396A>C)
c.707A>C (p.Lys236Thr)
c.3173A>C (p.Lys1058Thr)
c.656-1038A>C (n.656-1038A>C)
c.3104A>C (p.Lys1035Thr)
c.3167A>C (p.Lys1056Thr)
c.3155A>C (p.Lys1052Thr)
2g.144389921T>ACA348700652ZEB2c.*3024A>T (n.*3024A>T)
c.2398A>T (p.Lys800Ter)
c.3175A>T (p.Lys1059Ter)
n.3144A>T
c.2839A>T (p.Lys947Ter)
c.3250A>T (p.Lys1084Ter)
c.*2892A>T (n.*2892A>T)
n.3275A>T
c.151+6491A>T (n.151+6491A>T)
c.395A>T (n.395A>T)
c.706A>T (p.Lys236Ter)
c.3172A>T (p.Lys1058Ter)
c.656-1039A>T (n.656-1039A>T)
c.3103A>T (p.Lys1035Ter)
c.3166A>T (p.Lys1056Ter)
c.3154A>T (p.Lys1052Ter)
2g.144389921T>CCA348700653ZEB2c.*3024A>G (n.*3024A>G)
c.2398A>G (p.Lys800Glu)
c.3175A>G (p.Lys1059Glu)
n.3144A>G
c.2839A>G (p.Lys947Glu)
c.3250A>G (p.Lys1084Glu)
c.*2892A>G (n.*2892A>G)
n.3275A>G
c.151+6491A>G (n.151+6491A>G)
c.395A>G (n.395A>G)
c.706A>G (p.Lys236Glu)
c.3172A>G (p.Lys1058Glu)
c.656-1039A>G (n.656-1039A>G)
c.3103A>G (p.Lys1035Glu)
c.3166A>G (p.Lys1056Glu)
c.3154A>G (p.Lys1052Glu)
2g.144389921T>GCA348700655ZEB2c.*3024A>C (n.*3024A>C)
c.2398A>C (p.Lys800Gln)
c.3175A>C (p.Lys1059Gln)
n.3144A>C
c.2839A>C (p.Lys947Gln)
c.3250A>C (p.Lys1084Gln)
c.*2892A>C (n.*2892A>C)
n.3275A>C
c.151+6491A>C (n.151+6491A>C)
c.395A>C (n.395A>C)
c.706A>C (p.Lys236Gln)
c.3172A>C (p.Lys1058Gln)
c.656-1039A>C (n.656-1039A>C)
c.3103A>C (p.Lys1035Gln)
c.3166A>C (p.Lys1056Gln)
c.3154A>C (p.Lys1052Gln)
2g.144389922A>CCA348700660ZEB2c.*3023T>G (n.*3023T>G)
c.2397T>G (p.Asp799Glu)
c.3174T>G (p.Asp1058Glu)
n.3143T>G
c.2838T>G (p.Asp946Glu)
c.3249T>G (p.Asp1083Glu)
c.*2891T>G (n.*2891T>G)
n.3274T>G
c.151+6490T>G (n.151+6490T>G)
c.394T>G (n.394T>G)
c.705T>G (p.Asp235Glu)
c.3171T>G (p.Asp1057Glu)
c.656-1040T>G (n.656-1040T>G)
c.3102T>G (p.Asp1034Glu)
c.3165T>G (p.Asp1055Glu)
c.3153T>G (p.Asp1051Glu)
 COSMIC
2g.144389922A>GCA429445468ZEB2c.*3023T>C (n.*3023T>C)
c.2397T>C (p.Asp799=)
c.3174T>C (p.Asp1058=)
n.3143T>C
c.2838T>C (p.Asp946=)
c.3249T>C (p.Asp1083=)
c.*2891T>C (n.*2891T>C)
n.3274T>C
c.151+6490T>C (n.151+6490T>C)
c.394T>C (n.394T>C)
c.705T>C (p.Asp235=)
c.3171T>C (p.Asp1057=)
c.656-1040T>C (n.656-1040T>C)
c.3102T>C (p.Asp1034=)
c.3165T>C (p.Asp1055=)
c.3153T>C (p.Asp1051=)
 gnomAD v4 COSMIC
2g.144389922A>TCA348700661ZEB2c.*3023T>A (n.*3023T>A)
c.2397T>A (p.Asp799Glu)
c.3174T>A (p.Asp1058Glu)
n.3143T>A
c.2838T>A (p.Asp946Glu)
c.3249T>A (p.Asp1083Glu)
c.*2891T>A (n.*2891T>A)
n.3274T>A
c.151+6490T>A (n.151+6490T>A)
c.394T>A (n.394T>A)
c.705T>A (p.Asp235Glu)
c.3171T>A (p.Asp1057Glu)
c.656-1040T>A (n.656-1040T>A)
c.3102T>A (p.Asp1034Glu)
c.3165T>A (p.Asp1055Glu)
c.3153T>A (p.Asp1051Glu)
2g.144389923T>ACA348700663ZEB2c.*3022A>T (n.*3022A>T)
c.2396A>T (p.Asp799Val)
c.3173A>T (p.Asp1058Val)
n.3142A>T
c.2837A>T (p.Asp946Val)
c.3248A>T (p.Asp1083Val)
c.*2890A>T (n.*2890A>T)
n.3273A>T
c.151+6489A>T (n.151+6489A>T)
c.393A>T (n.393A>T)
c.704A>T (p.Asp235Val)
c.3170A>T (p.Asp1057Val)
c.656-1041A>T (n.656-1041A>T)
c.3101A>T (p.Asp1034Val)
c.3164A>T (p.Asp1055Val)
c.3152A>T (p.Asp1051Val)
2g.144389923T>CCA348700666ZEB2c.*3022A>G (n.*3022A>G)
c.2396A>G (p.Asp799Gly)
c.3173A>G (p.Asp1058Gly)
n.3142A>G
c.2837A>G (p.Asp946Gly)
c.3248A>G (p.Asp1083Gly)
c.*2890A>G (n.*2890A>G)
n.3273A>G
c.151+6489A>G (n.151+6489A>G)
c.393A>G (n.393A>G)
c.704A>G (p.Asp235Gly)
c.3170A>G (p.Asp1057Gly)
c.656-1041A>G (n.656-1041A>G)
c.3101A>G (p.Asp1034Gly)
c.3164A>G (p.Asp1055Gly)
c.3152A>G (p.Asp1051Gly)
2g.144389923T>GCA348700672ZEB2c.*3022A>C (n.*3022A>C)
c.2396A>C (p.Asp799Ala)
c.3173A>C (p.Asp1058Ala)
n.3142A>C
c.2837A>C (p.Asp946Ala)
c.3248A>C (p.Asp1083Ala)
c.*2890A>C (n.*2890A>C)
n.3273A>C
c.151+6489A>C (n.151+6489A>C)
c.393A>C (n.393A>C)
c.704A>C (p.Asp235Ala)
c.3170A>C (p.Asp1057Ala)
c.656-1041A>C (n.656-1041A>C)
c.3101A>C (p.Asp1034Ala)
c.3164A>C (p.Asp1055Ala)
c.3152A>C (p.Asp1051Ala)
2g.144389924C>ACA348700677ZEB2c.*3021G>T (n.*3021G>T)
c.2395G>T (p.Asp799Tyr)
c.3172G>T (p.Asp1058Tyr)
n.3141G>T
c.2836G>T (p.Asp946Tyr)
c.3247G>T (p.Asp1083Tyr)
c.*2889G>T (n.*2889G>T)
n.3272G>T
c.151+6488G>T (n.151+6488G>T)
c.392G>T (n.392G>T)
c.703G>T (p.Asp235Tyr)
c.3169G>T (p.Asp1057Tyr)
c.656-1042G>T (n.656-1042G>T)
c.3100G>T (p.Asp1034Tyr)
c.3163G>T (p.Asp1055Tyr)
c.3151G>T (p.Asp1051Tyr)
2g.144389924C>GCA348700681ZEB2c.*3021G>C (n.*3021G>C)
c.2395G>C (p.Asp799His)
c.3172G>C (p.Asp1058His)
n.3141G>C
c.2836G>C (p.Asp946His)
c.3247G>C (p.Asp1083His)
c.*2889G>C (n.*2889G>C)
n.3272G>C
c.151+6488G>C (n.151+6488G>C)
c.392G>C (n.392G>C)
c.703G>C (p.Asp235His)
c.3169G>C (p.Asp1057His)
c.656-1042G>C (n.656-1042G>C)
c.3100G>C (p.Asp1034His)
c.3163G>C (p.Asp1055His)
c.3151G>C (p.Asp1051His)
2g.144389924C>TCA348700686ZEB2c.*3021G>A (n.*3021G>A)
c.2395G>A (p.Asp799Asn)
c.3172G>A (p.Asp1058Asn)
n.3141G>A
c.2836G>A (p.Asp946Asn)
c.3247G>A (p.Asp1083Asn)
c.*2889G>A (n.*2889G>A)
n.3272G>A
c.151+6488G>A (n.151+6488G>A)
c.392G>A (n.392G>A)
c.703G>A (p.Asp235Asn)
c.3169G>A (p.Asp1057Asn)
c.656-1042G>A (n.656-1042G>A)
c.3100G>A (p.Asp1034Asn)
c.3163G>A (p.Asp1055Asn)
c.3151G>A (p.Asp1051Asn)
2g.144389927_144389928delCA2837240918ZEB2c.*3020_*3021del (n.*3020_*3021del)
c.2394_2395del (p.Cys798Ter)
c.3171_3172del (p.Cys1057Ter)
n.3140_3141del
c.2835_2836del (p.Cys945Ter)
c.3246_3247del (p.Cys1082Ter)
c.*2888_*2889del (n.*2888_*2889del)
n.3271_3272del
c.151+6487_151+6488del (n.151+6487_151+6488del)
c.391_392del (n.391_392del)
c.702_703del (p.Cys234Ter)
c.3168_3169del (p.Cys1056Ter)
c.656-1043_656-1042del (n.656-1043_656-1042del)
c.3099_3100del (p.Cys1033Ter)
c.3162_3163del (p.Cys1054Ter)
c.3150_3151del (p.Cys1050Ter)
2g.144389925A>CCA348700690ZEB2c.*3020T>G (n.*3020T>G)
c.2394T>G (p.Cys798Trp)
c.3171T>G (p.Cys1057Trp)
n.3140T>G
c.2835T>G (p.Cys945Trp)
c.3246T>G (p.Cys1082Trp)
c.*2888T>G (n.*2888T>G)
n.3271T>G
c.151+6487T>G (n.151+6487T>G)
c.391T>G (n.391T>G)
c.702T>G (p.Cys234Trp)
c.3168T>G (p.Cys1056Trp)
c.656-1043T>G (n.656-1043T>G)
c.3099T>G (p.Cys1033Trp)
c.3162T>G (p.Cys1054Trp)
c.3150T>G (p.Cys1050Trp)
2g.144389925A>GCA429445473ZEB2c.*3020T>C (n.*3020T>C)
c.2394T>C (p.Cys798=)
c.3171T>C (p.Cys1057=)
n.3140T>C
c.2835T>C (p.Cys945=)
c.3246T>C (p.Cys1082=)
c.*2888T>C (n.*2888T>C)
n.3271T>C
c.151+6487T>C (n.151+6487T>C)
c.391T>C (n.391T>C)
c.702T>C (p.Cys234=)
c.3168T>C (p.Cys1056=)
c.656-1043T>C (n.656-1043T>C)
c.3099T>C (p.Cys1033=)
c.3162T>C (p.Cys1054=)
c.3150T>C (p.Cys1050=)
2g.144389925A>TCA348700689ZEB2c.*3020T>A (n.*3020T>A)
c.2394T>A (p.Cys798Ter)
c.3171T>A (p.Cys1057Ter)
n.3140T>A
c.2835T>A (p.Cys945Ter)
c.3246T>A (p.Cys1082Ter)
c.*2888T>A (n.*2888T>A)
n.3271T>A
c.151+6487T>A (n.151+6487T>A)
c.391T>A (n.391T>A)
c.702T>A (p.Cys234Ter)
c.3168T>A (p.Cys1056Ter)
c.656-1043T>A (n.656-1043T>A)
c.3099T>A (p.Cys1033Ter)
c.3162T>A (p.Cys1054Ter)
c.3150T>A (p.Cys1050Ter)
2g.144389926C>ACA348700691ZEB2c.*3019G>T (n.*3019G>T)
c.2393G>T (p.Cys798Phe)
c.3170G>T (p.Cys1057Phe)
n.3139G>T
c.2834G>T (p.Cys945Phe)
c.3245G>T (p.Cys1082Phe)
c.*2887G>T (n.*2887G>T)
n.3270G>T
c.151+6486G>T (n.151+6486G>T)
c.390G>T (n.390G>T)
c.701G>T (p.Cys234Phe)
c.3167G>T (p.Cys1056Phe)
c.656-1044G>T (n.656-1044G>T)
c.3098G>T (p.Cys1033Phe)
c.3161G>T (p.Cys1054Phe)
c.3149G>T (p.Cys1050Phe)
2g.144389926C=CA1294881387ZEB2c.*3019G= (n.*3019G=)
c.2393G= (p.Cys798=)
c.3170G= (p.Cys1057=)
n.3139G=
c.2834G= (p.Cys945=)
c.3245G= (p.Cys1082=)
c.*2887G= (n.*2887G=)
n.3270G=
c.151+6486G= (n.151+6486G=)
c.390G= (n.390G=)
c.701G= (p.Cys234=)
c.3167G= (p.Cys1056=)
c.656-1044G= (n.656-1044G=)
c.3098G= (p.Cys1033=)
c.3161G= (p.Cys1054=)
c.3149G= (p.Cys1050=)
2g.144389926C>GCA348700693ZEB2c.*3019G>C (n.*3019G>C)
c.2393G>C (p.Cys798Ser)
c.3170G>C (p.Cys1057Ser)
n.3139G>C
c.2834G>C (p.Cys945Ser)
c.3245G>C (p.Cys1082Ser)
c.*2887G>C (n.*2887G>C)
n.3270G>C
c.151+6486G>C (n.151+6486G>C)
c.390G>C (n.390G>C)
c.701G>C (p.Cys234Ser)
c.3167G>C (p.Cys1056Ser)
c.656-1044G>C (n.656-1044G>C)
c.3098G>C (p.Cys1033Ser)
c.3161G>C (p.Cys1054Ser)
c.3149G>C (p.Cys1050Ser)
2g.144389926C>TCA348700696ZEB2c.*3019G>A (n.*3019G>A)
c.2393G>A (p.Cys798Tyr)
c.3170G>A (p.Cys1057Tyr)
n.3139G>A
c.2834G>A (p.Cys945Tyr)
c.3245G>A (p.Cys1082Tyr)
c.*2887G>A (n.*2887G>A)
n.3270G>A
c.151+6486G>A (n.151+6486G>A)
c.390G>A (n.390G>A)
c.701G>A (p.Cys234Tyr)
c.3167G>A (p.Cys1056Tyr)
c.656-1044G>A (n.656-1044G>A)
c.3098G>A (p.Cys1033Tyr)
c.3161G>A (p.Cys1054Tyr)
c.3149G>A (p.Cys1050Tyr)
 ClinVar dbSNP
2g.144389927A=CA1294881388ZEB2c.*3018T= (n.*3018T=)
c.2392T= (p.Cys798=)
c.3169T= (p.Cys1057=)
n.3138T=
c.2833T= (p.Cys945=)
c.3244T= (p.Cys1082=)
c.*2886T= (n.*2886T=)
n.3269T=
c.151+6485T= (n.151+6485T=)
c.389T= (n.389T=)
c.700T= (p.Cys234=)
c.3166T= (p.Cys1056=)
c.656-1045T= (n.656-1045T=)
c.3097T= (p.Cys1033=)
c.3160T= (p.Cys1054=)
c.3148T= (p.Cys1050=)
2g.144389927A>CCA348700701ZEB2c.*3018T>G (n.*3018T>G)
c.2392T>G (p.Cys798Gly)
c.3169T>G (p.Cys1057Gly)
n.3138T>G
c.2833T>G (p.Cys945Gly)
c.3244T>G (p.Cys1082Gly)
c.*2886T>G (n.*2886T>G)
n.3269T>G
c.151+6485T>G (n.151+6485T>G)
c.389T>G (n.389T>G)
c.700T>G (p.Cys234Gly)
c.3166T>G (p.Cys1056Gly)
c.656-1045T>G (n.656-1045T>G)
c.3097T>G (p.Cys1033Gly)
c.3160T>G (p.Cys1054Gly)
c.3148T>G (p.Cys1050Gly)
2g.144389927A>GCA348700702ZEB2c.*3018T>C (n.*3018T>C)
c.2392T>C (p.Cys798Arg)
c.3169T>C (p.Cys1057Arg)
n.3138T>C
c.2833T>C (p.Cys945Arg)
c.3244T>C (p.Cys1082Arg)
c.*2886T>C (n.*2886T>C)
n.3269T>C
c.151+6485T>C (n.151+6485T>C)
c.389T>C (n.389T>C)
c.700T>C (p.Cys234Arg)
c.3166T>C (p.Cys1056Arg)
c.656-1045T>C (n.656-1045T>C)
c.3097T>C (p.Cys1033Arg)
c.3160T>C (p.Cys1054Arg)
c.3148T>C (p.Cys1050Arg)
 ClinVar dbSNP
2g.144389927A>TCA348700703ZEB2c.*3018T>A (n.*3018T>A)
c.2392T>A (p.Cys798Ser)
c.3169T>A (p.Cys1057Ser)
n.3138T>A
c.2833T>A (p.Cys945Ser)
c.3244T>A (p.Cys1082Ser)
c.*2886T>A (n.*2886T>A)
n.3269T>A
c.151+6485T>A (n.151+6485T>A)
c.389T>A (n.389T>A)
c.700T>A (p.Cys234Ser)
c.3166T>A (p.Cys1056Ser)
c.656-1045T>A (n.656-1045T>A)
c.3097T>A (p.Cys1033Ser)
c.3160T>A (p.Cys1054Ser)
c.3148T>A (p.Cys1050Ser)
2g.144389928C>ACA348700709ZEB2c.*3017G>T (n.*3017G>T)
c.2391G>T (p.Gln797His)
c.3168G>T (p.Gln1056His)
n.3137G>T
c.2832G>T (p.Gln944His)
c.3243G>T (p.Gln1081His)
c.*2885G>T (n.*2885G>T)
n.3268G>T
c.151+6484G>T (n.151+6484G>T)
c.388G>T (n.388G>T)
c.699G>T (p.Gln233His)
c.3165G>T (p.Gln1055His)
c.656-1046G>T (n.656-1046G>T)
c.3096G>T (p.Gln1032His)
c.3159G>T (p.Gln1053His)
c.3147G>T (p.Gln1049His)
2g.144389928C>GCA348700712ZEB2c.*3017G>C (n.*3017G>C)
c.2391G>C (p.Gln797His)
c.3168G>C (p.Gln1056His)
n.3137G>C
c.2832G>C (p.Gln944His)
c.3243G>C (p.Gln1081His)
c.*2885G>C (n.*2885G>C)
n.3268G>C
c.151+6484G>C (n.151+6484G>C)
c.388G>C (n.388G>C)
c.699G>C (p.Gln233His)
c.3165G>C (p.Gln1055His)
c.656-1046G>C (n.656-1046G>C)
c.3096G>C (p.Gln1032His)
c.3159G>C (p.Gln1053His)
c.3147G>C (p.Gln1049His)
2g.144389928C>TCA429445479ZEB2c.*3017G>A (n.*3017G>A)
c.2391G>A (p.Gln797=)
c.3168G>A (p.Gln1056=)
n.3137G>A
c.2832G>A (p.Gln944=)
c.3243G>A (p.Gln1081=)
c.*2885G>A (n.*2885G>A)
n.3268G>A
c.151+6484G>A (n.151+6484G>A)
c.388G>A (n.388G>A)
c.699G>A (p.Gln233=)
c.3165G>A (p.Gln1055=)
c.656-1046G>A (n.656-1046G>A)
c.3096G>A (p.Gln1032=)
c.3159G>A (p.Gln1053=)
c.3147G>A (p.Gln1049=)
2g.144389929T>ACA348700719ZEB2c.*3016A>T (n.*3016A>T)
c.2390A>T (p.Gln797Leu)
c.3167A>T (p.Gln1056Leu)
n.3136A>T
c.2831A>T (p.Gln944Leu)
c.3242A>T (p.Gln1081Leu)
c.*2884A>T (n.*2884A>T)
n.3267A>T
c.151+6483A>T (n.151+6483A>T)
c.387A>T (n.387A>T)
c.698A>T (p.Gln233Leu)
c.3164A>T (p.Gln1055Leu)
c.656-1047A>T (n.656-1047A>T)
c.3095A>T (p.Gln1032Leu)
c.3158A>T (p.Gln1053Leu)
c.3146A>T (p.Gln1049Leu)
2g.144389929T>CCA348700723ZEB2c.*3016A>G (n.*3016A>G)
c.2390A>G (p.Gln797Arg)
c.3167A>G (p.Gln1056Arg)
n.3136A>G
c.2831A>G (p.Gln944Arg)
c.3242A>G (p.Gln1081Arg)
c.*2884A>G (n.*2884A>G)
n.3267A>G
c.151+6483A>G (n.151+6483A>G)
c.387A>G (n.387A>G)
c.698A>G (p.Gln233Arg)
c.3164A>G (p.Gln1055Arg)
c.656-1047A>G (n.656-1047A>G)
c.3095A>G (p.Gln1032Arg)
c.3158A>G (p.Gln1053Arg)
c.3146A>G (p.Gln1049Arg)
 gnomAD v4
2g.144389929T>GCA348700724ZEB2c.*3016A>C (n.*3016A>C)
c.2390A>C (p.Gln797Pro)
c.3167A>C (p.Gln1056Pro)
n.3136A>C
c.2831A>C (p.Gln944Pro)
c.3242A>C (p.Gln1081Pro)
c.*2884A>C (n.*2884A>C)
n.3267A>C
c.151+6483A>C (n.151+6483A>C)
c.387A>C (n.387A>C)
c.698A>C (p.Gln233Pro)
c.3164A>C (p.Gln1055Pro)
c.656-1047A>C (n.656-1047A>C)
c.3095A>C (p.Gln1032Pro)
c.3158A>C (p.Gln1053Pro)
c.3146A>C (p.Gln1049Pro)
2g.144389930G>ACA348700729ZEB2c.*3015C>T (n.*3015C>T)
c.2389C>T (p.Gln797Ter)
c.3166C>T (p.Gln1056Ter)
n.3135C>T
c.2830C>T (p.Gln944Ter)
c.3241C>T (p.Gln1081Ter)
c.*2883C>T (n.*2883C>T)
n.3266C>T
c.151+6482C>T (n.151+6482C>T)
c.386C>T (n.386C>T)
c.697C>T (p.Gln233Ter)
c.3163C>T (p.Gln1055Ter)
c.656-1048C>T (n.656-1048C>T)
c.3094C>T (p.Gln1032Ter)
c.3157C>T (p.Gln1053Ter)
c.3145C>T (p.Gln1049Ter)
 ClinVar
2g.144389930G>CCA348700732ZEB2c.*3015C>G (n.*3015C>G)
c.2389C>G (p.Gln797Glu)
c.3166C>G (p.Gln1056Glu)
n.3135C>G
c.2830C>G (p.Gln944Glu)
c.3241C>G (p.Gln1081Glu)
c.*2883C>G (n.*2883C>G)
n.3266C>G
c.151+6482C>G (n.151+6482C>G)
c.386C>G (n.386C>G)
c.697C>G (p.Gln233Glu)
c.3163C>G (p.Gln1055Glu)
c.656-1048C>G (n.656-1048C>G)
c.3094C>G (p.Gln1032Glu)
c.3157C>G (p.Gln1053Glu)
c.3145C>G (p.Gln1049Glu)
2g.144389930G>TCA348700736ZEB2c.*3015C>A (n.*3015C>A)
c.2389C>A (p.Gln797Lys)
c.3166C>A (p.Gln1056Lys)
n.3135C>A
c.2830C>A (p.Gln944Lys)
c.3241C>A (p.Gln1081Lys)
c.*2883C>A (n.*2883C>A)
n.3266C>A
c.151+6482C>A (n.151+6482C>A)
c.386C>A (n.386C>A)
c.697C>A (p.Gln233Lys)
c.3163C>A (p.Gln1055Lys)
c.656-1048C>A (n.656-1048C>A)
c.3094C>A (p.Gln1032Lys)
c.3157C>A (p.Gln1053Lys)
c.3145C>A (p.Gln1049Lys)
 gnomAD v4
2g.144389931A>CCA348700744ZEB2c.*3014T>G (n.*3014T>G)
c.2388T>G (p.Tyr796Ter)
c.3165T>G (p.Tyr1055Ter)
n.3134T>G
c.2829T>G (p.Tyr943Ter)
c.3240T>G (p.Tyr1080Ter)
c.*2882T>G (n.*2882T>G)
n.3265T>G
c.151+6481T>G (n.151+6481T>G)
c.385T>G (n.385T>G)
c.696T>G (p.Tyr232Ter)
c.3162T>G (p.Tyr1054Ter)
c.656-1049T>G (n.656-1049T>G)
c.3093T>G (p.Tyr1031Ter)
c.3156T>G (p.Tyr1052Ter)
c.3144T>G (p.Tyr1048Ter)
2g.144389931A>GCA429445483ZEB2c.*3014T>C (n.*3014T>C)
c.2388T>C (p.Tyr796=)
c.3165T>C (p.Tyr1055=)
n.3134T>C
c.2829T>C (p.Tyr943=)
c.3240T>C (p.Tyr1080=)
c.*2882T>C (n.*2882T>C)
n.3265T>C
c.151+6481T>C (n.151+6481T>C)
c.385T>C (n.385T>C)
c.696T>C (p.Tyr232=)
c.3162T>C (p.Tyr1054=)
c.656-1049T>C (n.656-1049T>C)
c.3093T>C (p.Tyr1031=)
c.3156T>C (p.Tyr1052=)
c.3144T>C (p.Tyr1048=)
 gnomAD v4
2g.144389931A>TCA348700747ZEB2c.*3014T>A (n.*3014T>A)
c.2388T>A (p.Tyr796Ter)
c.3165T>A (p.Tyr1055Ter)
n.3134T>A
c.2829T>A (p.Tyr943Ter)
c.3240T>A (p.Tyr1080Ter)
c.*2882T>A (n.*2882T>A)
n.3265T>A
c.151+6481T>A (n.151+6481T>A)
c.385T>A (n.385T>A)
c.696T>A (p.Tyr232Ter)
c.3162T>A (p.Tyr1054Ter)
c.656-1049T>A (n.656-1049T>A)
c.3093T>A (p.Tyr1031Ter)
c.3156T>A (p.Tyr1052Ter)
c.3144T>A (p.Tyr1048Ter)
2g.144389932T>ACA348700754ZEB2c.*3013A>T (n.*3013A>T)
c.2387A>T (p.Tyr796Phe)
c.3164A>T (p.Tyr1055Phe)
n.3133A>T
c.2828A>T (p.Tyr943Phe)
c.3239A>T (p.Tyr1080Phe)
c.*2881A>T (n.*2881A>T)
n.3264A>T
c.151+6480A>T (n.151+6480A>T)
c.384A>T (n.384A>T)
c.695A>T (p.Tyr232Phe)
c.3161A>T (p.Tyr1054Phe)
c.656-1050A>T (n.656-1050A>T)
c.3092A>T (p.Tyr1031Phe)
c.3155A>T (p.Tyr1052Phe)
c.3143A>T (p.Tyr1048Phe)
 COSMIC
2g.144389932T>CCA348700756ZEB2c.*3013A>G (n.*3013A>G)
c.2387A>G (p.Tyr796Cys)
c.3164A>G (p.Tyr1055Cys)
n.3133A>G
c.2828A>G (p.Tyr943Cys)
c.3239A>G (p.Tyr1080Cys)
c.*2881A>G (n.*2881A>G)
n.3264A>G
c.151+6480A>G (n.151+6480A>G)
c.384A>G (n.384A>G)
c.695A>G (p.Tyr232Cys)
c.3161A>G (p.Tyr1054Cys)
c.656-1050A>G (n.656-1050A>G)
c.3092A>G (p.Tyr1031Cys)
c.3155A>G (p.Tyr1052Cys)
c.3143A>G (p.Tyr1048Cys)
 ClinVar dbSNP
2g.144389932T>GCA348700759ZEB2c.*3013A>C (n.*3013A>C)
c.2387A>C (p.Tyr796Ser)
c.3164A>C (p.Tyr1055Ser)
n.3133A>C
c.2828A>C (p.Tyr943Ser)
c.3239A>C (p.Tyr1080Ser)
c.*2881A>C (n.*2881A>C)
n.3264A>C
c.151+6480A>C (n.151+6480A>C)
c.384A>C (n.384A>C)
c.695A>C (p.Tyr232Ser)
c.3161A>C (p.Tyr1054Ser)
c.656-1050A>C (n.656-1050A>C)
c.3092A>C (p.Tyr1031Ser)
c.3155A>C (p.Tyr1052Ser)
c.3143A>C (p.Tyr1048Ser)
2g.144389932T=CA1294881389ZEB2c.*3013A= (n.*3013A=)
c.2387A= (p.Tyr796=)
c.3164A= (p.Tyr1055=)
n.3133A=
c.2828A= (p.Tyr943=)
c.3239A= (p.Tyr1080=)
c.*2881A= (n.*2881A=)
n.3264A=
c.151+6480A= (n.151+6480A=)
c.384A= (n.384A=)
c.695A= (p.Tyr232=)
c.3161A= (p.Tyr1054=)
c.656-1050A= (n.656-1050A=)
c.3092A= (p.Tyr1031=)
c.3155A= (p.Tyr1052=)
c.3143A= (p.Tyr1048=)
2g.144389933A>CCA348700763ZEB2c.*3012T>G (n.*3012T>G)
c.2386T>G (p.Tyr796Asp)
c.3163T>G (p.Tyr1055Asp)
n.3132T>G
c.2827T>G (p.Tyr943Asp)
c.3238T>G (p.Tyr1080Asp)
c.*2880T>G (n.*2880T>G)
n.3263T>G
c.151+6479T>G (n.151+6479T>G)
c.383T>G (n.383T>G)
c.694T>G (p.Tyr232Asp)
c.3160T>G (p.Tyr1054Asp)
c.656-1051T>G (n.656-1051T>G)
c.3091T>G (p.Tyr1031Asp)
c.3154T>G (p.Tyr1052Asp)
c.3142T>G (p.Tyr1048Asp)
2g.144389933A>GCA348700765ZEB2c.*3012T>C (n.*3012T>C)
c.2386T>C (p.Tyr796His)
c.3163T>C (p.Tyr1055His)
n.3132T>C
c.2827T>C (p.Tyr943His)
c.3238T>C (p.Tyr1080His)
c.*2880T>C (n.*2880T>C)
n.3263T>C
c.151+6479T>C (n.151+6479T>C)
c.383T>C (n.383T>C)
c.694T>C (p.Tyr232His)
c.3160T>C (p.Tyr1054His)
c.656-1051T>C (n.656-1051T>C)
c.3091T>C (p.Tyr1031His)
c.3154T>C (p.Tyr1052His)
c.3142T>C (p.Tyr1048His)
2g.144389933A>TCA348700766ZEB2c.*3012T>A (n.*3012T>A)
c.2386T>A (p.Tyr796Asn)
c.3163T>A (p.Tyr1055Asn)
n.3132T>A
c.2827T>A (p.Tyr943Asn)
c.3238T>A (p.Tyr1080Asn)
c.*2880T>A (n.*2880T>A)
n.3263T>A
c.151+6479T>A (n.151+6479T>A)
c.383T>A (n.383T>A)
c.694T>A (p.Tyr232Asn)
c.3160T>A (p.Tyr1054Asn)
c.656-1051T>A (n.656-1051T>A)
c.3091T>A (p.Tyr1031Asn)
c.3154T>A (p.Tyr1052Asn)
c.3142T>A (p.Tyr1048Asn)
2g.144389934G>ACA429445486ZEB2c.*3011C>T (n.*3011C>T)
c.2385C>T (p.Pro795=)
c.3162C>T (p.Pro1054=)
n.3131C>T
c.2826C>T (p.Pro942=)
c.3237C>T (p.Pro1079=)
c.*2879C>T (n.*2879C>T)
n.3262C>T
c.151+6478C>T (n.151+6478C>T)
c.382C>T (n.382C>T)
c.693C>T (p.Pro231=)
c.3159C>T (p.Pro1053=)
c.656-1052C>T (n.656-1052C>T)
c.3090C>T (p.Pro1030=)
c.3153C>T (p.Pro1051=)
c.3141C>T (p.Pro1047=)
 dbSNP gnomAD v3 gnomAD v4
2g.144389934G>CCA429445487ZEB2c.*3011C>G (n.*3011C>G)
c.2385C>G (p.Pro795=)
c.3162C>G (p.Pro1054=)
n.3131C>G
c.2826C>G (p.Pro942=)
c.3237C>G (p.Pro1079=)
c.*2879C>G (n.*2879C>G)
n.3262C>G
c.151+6478C>G (n.151+6478C>G)
c.382C>G (n.382C>G)
c.693C>G (p.Pro231=)
c.3159C>G (p.Pro1053=)
c.656-1052C>G (n.656-1052C>G)
c.3090C>G (p.Pro1030=)
c.3153C>G (p.Pro1051=)
c.3141C>G (p.Pro1047=)
2g.144389934G=CA1294881390ZEB2c.*3011C= (n.*3011C=)
c.2385C= (p.Pro795=)
c.3162C= (p.Pro1054=)
n.3131C=
c.2826C= (p.Pro942=)
c.3237C= (p.Pro1079=)
c.*2879C= (n.*2879C=)
n.3262C=
c.151+6478C= (n.151+6478C=)
c.382C= (n.382C=)
c.693C= (p.Pro231=)
c.3159C= (p.Pro1053=)
c.656-1052C= (n.656-1052C=)
c.3090C= (p.Pro1030=)
c.3153C= (p.Pro1051=)
c.3141C= (p.Pro1047=)
2g.144389934G>TCA429445488ZEB2c.*3011C>A (n.*3011C>A)
c.2385C>A (p.Pro795=)
c.3162C>A (p.Pro1054=)
n.3131C>A
c.2826C>A (p.Pro942=)
c.3237C>A (p.Pro1079=)
c.*2879C>A (n.*2879C>A)
n.3262C>A
c.151+6478C>A (n.151+6478C>A)
c.382C>A (n.382C>A)
c.693C>A (p.Pro231=)
c.3159C>A (p.Pro1053=)
c.656-1052C>A (n.656-1052C>A)
c.3090C>A (p.Pro1030=)
c.3153C>A (p.Pro1051=)
c.3141C>A (p.Pro1047=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389935_144389936delCA2740095694ZEB2c.*3010_*3011del (n.*3010_*3011del)
c.2384_2385del (p.Pro795LeufsTer4)
c.3161_3162del (p.Pro1054LeufsTer4)
n.3130_3131del
c.2825_2826del (p.Pro942LeufsTer4)
c.3236_3237del (p.Pro1079LeufsTer4)
c.*2878_*2879del (n.*2878_*2879del)
n.3261_3262del
c.151+6477_151+6478del (n.151+6477_151+6478del)
c.381_382del (n.381_382del)
c.692_693del (p.Pro231LeufsTer4)
c.3158_3159del (p.Pro1053LeufsTer4)
c.656-1053_656-1052del (n.656-1053_656-1052del)
c.3089_3090del (p.Pro1030LeufsTer4)
c.3152_3153del (p.Pro1051LeufsTer4)
c.3140_3141del (p.Pro1047LeufsTer4)
 ClinVar
2g.144389935G>ACA348700775ZEB2c.*3010C>T (n.*3010C>T)
c.2384C>T (p.Pro795Leu)
c.3161C>T (p.Pro1054Leu)
n.3130C>T
c.2825C>T (p.Pro942Leu)
c.3236C>T (p.Pro1079Leu)
c.*2878C>T (n.*2878C>T)
n.3261C>T
c.151+6477C>T (n.151+6477C>T)
c.381C>T (n.381C>T)
c.692C>T (p.Pro231Leu)
c.3158C>T (p.Pro1053Leu)
c.656-1053C>T (n.656-1053C>T)
c.3089C>T (p.Pro1030Leu)
c.3152C>T (p.Pro1051Leu)
c.3140C>T (p.Pro1047Leu)
2g.144389935G>CCA348700784ZEB2c.*3010C>G (n.*3010C>G)
c.2384C>G (p.Pro795Arg)
c.3161C>G (p.Pro1054Arg)
n.3130C>G
c.2825C>G (p.Pro942Arg)
c.3236C>G (p.Pro1079Arg)
c.*2878C>G (n.*2878C>G)
n.3261C>G
c.151+6477C>G (n.151+6477C>G)
c.381C>G (n.381C>G)
c.692C>G (p.Pro231Arg)
c.3158C>G (p.Pro1053Arg)
c.656-1053C>G (n.656-1053C>G)
c.3089C>G (p.Pro1030Arg)
c.3152C>G (p.Pro1051Arg)
c.3140C>G (p.Pro1047Arg)
2g.144389935G>TCA348700790ZEB2c.*3010C>A (n.*3010C>A)
c.2384C>A (p.Pro795His)
c.3161C>A (p.Pro1054His)
n.3130C>A
c.2825C>A (p.Pro942His)
c.3236C>A (p.Pro1079His)
c.*2878C>A (n.*2878C>A)
n.3261C>A
c.151+6477C>A (n.151+6477C>A)
c.381C>A (n.381C>A)
c.692C>A (p.Pro231His)
c.3158C>A (p.Pro1053His)
c.656-1053C>A (n.656-1053C>A)
c.3089C>A (p.Pro1030His)
c.3152C>A (p.Pro1051His)
c.3140C>A (p.Pro1047His)
2g.144389936G>ACA348700793ZEB2c.*3009C>T (n.*3009C>T)
c.2383C>T (p.Pro795Ser)
c.3160C>T (p.Pro1054Ser)
n.3129C>T
c.2824C>T (p.Pro942Ser)
c.3235C>T (p.Pro1079Ser)
c.*2877C>T (n.*2877C>T)
n.3260C>T
c.151+6476C>T (n.151+6476C>T)
c.380C>T (n.380C>T)
c.691C>T (p.Pro231Ser)
c.3157C>T (p.Pro1053Ser)
c.656-1054C>T (n.656-1054C>T)
c.3088C>T (p.Pro1030Ser)
c.3151C>T (p.Pro1051Ser)
c.3139C>T (p.Pro1047Ser)
 COSMIC
2g.144389936G>CCA348700795ZEB2c.*3009C>G (n.*3009C>G)
c.2383C>G (p.Pro795Ala)
c.3160C>G (p.Pro1054Ala)
n.3129C>G
c.2824C>G (p.Pro942Ala)
c.3235C>G (p.Pro1079Ala)
c.*2877C>G (n.*2877C>G)
n.3260C>G
c.151+6476C>G (n.151+6476C>G)
c.380C>G (n.380C>G)
c.691C>G (p.Pro231Ala)
c.3157C>G (p.Pro1053Ala)
c.656-1054C>G (n.656-1054C>G)
c.3088C>G (p.Pro1030Ala)
c.3151C>G (p.Pro1051Ala)
c.3139C>G (p.Pro1047Ala)
 ClinVar
2g.144389936G>TCA348700796ZEB2c.*3009C>A (n.*3009C>A)
c.2383C>A (p.Pro795Thr)
c.3160C>A (p.Pro1054Thr)
n.3129C>A
c.2824C>A (p.Pro942Thr)
c.3235C>A (p.Pro1079Thr)
c.*2877C>A (n.*2877C>A)
n.3260C>A
c.151+6476C>A (n.151+6476C>A)
c.380C>A (n.380C>A)
c.691C>A (p.Pro231Thr)
c.3157C>A (p.Pro1053Thr)
c.656-1054C>A (n.656-1054C>A)
c.3088C>A (p.Pro1030Thr)
c.3151C>A (p.Pro1051Thr)
c.3139C>A (p.Pro1047Thr)
 gnomAD v4
2g.144389937C>ACA348700814ZEB2c.*3008G>T (n.*3008G>T)
c.2382G>T (p.Lys794Asn)
c.3159G>T (p.Lys1053Asn)
n.3128G>T
c.2823G>T (p.Lys941Asn)
c.3234G>T (p.Lys1078Asn)
c.*2876G>T (n.*2876G>T)
n.3259G>T
c.151+6475G>T (n.151+6475G>T)
c.379G>T (n.379G>T)
c.690G>T (p.Lys230Asn)
c.3156G>T (p.Lys1052Asn)
c.656-1055G>T (n.656-1055G>T)
c.3087G>T (p.Lys1029Asn)
c.3150G>T (p.Lys1050Asn)
c.3138G>T (p.Lys1046Asn)
2g.144389937C>GCA348700812ZEB2c.*3008G>C (n.*3008G>C)
c.2382G>C (p.Lys794Asn)
c.3159G>C (p.Lys1053Asn)
n.3128G>C
c.2823G>C (p.Lys941Asn)
c.3234G>C (p.Lys1078Asn)
c.*2876G>C (n.*2876G>C)
n.3259G>C
c.151+6475G>C (n.151+6475G>C)
c.379G>C (n.379G>C)
c.690G>C (p.Lys230Asn)
c.3156G>C (p.Lys1052Asn)
c.656-1055G>C (n.656-1055G>C)
c.3087G>C (p.Lys1029Asn)
c.3150G>C (p.Lys1050Asn)
c.3138G>C (p.Lys1046Asn)
2g.144389937C>TCA429445491ZEB2c.*3008G>A (n.*3008G>A)
c.2382G>A (p.Lys794=)
c.3159G>A (p.Lys1053=)
n.3128G>A
c.2823G>A (p.Lys941=)
c.3234G>A (p.Lys1078=)
c.*2876G>A (n.*2876G>A)
n.3259G>A
c.151+6475G>A (n.151+6475G>A)
c.379G>A (n.379G>A)
c.690G>A (p.Lys230=)
c.3156G>A (p.Lys1052=)
c.656-1055G>A (n.656-1055G>A)
c.3087G>A (p.Lys1029=)
c.3150G>A (p.Lys1050=)
c.3138G>A (p.Lys1046=)
2g.144389938T>ACA348700817ZEB2c.*3007A>T (n.*3007A>T)
c.2381A>T (p.Lys794Met)
c.3158A>T (p.Lys1053Met)
n.3127A>T
c.2822A>T (p.Lys941Met)
c.3233A>T (p.Lys1078Met)
c.*2875A>T (n.*2875A>T)
n.3258A>T
c.151+6474A>T (n.151+6474A>T)
c.378A>T (n.378A>T)
c.689A>T (p.Lys230Met)
c.3155A>T (p.Lys1052Met)
c.656-1056A>T (n.656-1056A>T)
c.3086A>T (p.Lys1029Met)
c.3149A>T (p.Lys1050Met)
c.3137A>T (p.Lys1046Met)
2g.144389938T>CCA348700823ZEB2c.*3007A>G (n.*3007A>G)
c.2381A>G (p.Lys794Arg)
c.3158A>G (p.Lys1053Arg)
n.3127A>G
c.2822A>G (p.Lys941Arg)
c.3233A>G (p.Lys1078Arg)
c.*2875A>G (n.*2875A>G)
n.3258A>G
c.151+6474A>G (n.151+6474A>G)
c.378A>G (n.378A>G)
c.689A>G (p.Lys230Arg)
c.3155A>G (p.Lys1052Arg)
c.656-1056A>G (n.656-1056A>G)
c.3086A>G (p.Lys1029Arg)
c.3149A>G (p.Lys1050Arg)
c.3137A>G (p.Lys1046Arg)
2g.144389938T>GCA348700820ZEB2c.*3007A>C (n.*3007A>C)
c.2381A>C (p.Lys794Thr)
c.3158A>C (p.Lys1053Thr)
n.3127A>C
c.2822A>C (p.Lys941Thr)
c.3233A>C (p.Lys1078Thr)
c.*2875A>C (n.*2875A>C)
n.3258A>C
c.151+6474A>C (n.151+6474A>C)
c.378A>C (n.378A>C)
c.689A>C (p.Lys230Thr)
c.3155A>C (p.Lys1052Thr)
c.656-1056A>C (n.656-1056A>C)
c.3086A>C (p.Lys1029Thr)
c.3149A>C (p.Lys1050Thr)
c.3137A>C (p.Lys1046Thr)
2g.144389939T>ACA348700826ZEB2c.*3006A>T (n.*3006A>T)
c.2380A>T (p.Lys794Ter)
c.3157A>T (p.Lys1053Ter)
n.3126A>T
c.2821A>T (p.Lys941Ter)
c.3232A>T (p.Lys1078Ter)
c.*2874A>T (n.*2874A>T)
n.3257A>T
c.151+6473A>T (n.151+6473A>T)
c.377A>T (n.377A>T)
c.688A>T (p.Lys230Ter)
c.3154A>T (p.Lys1052Ter)
c.656-1057A>T (n.656-1057A>T)
c.3085A>T (p.Lys1029Ter)
c.3148A>T (p.Lys1050Ter)
c.3136A>T (p.Lys1046Ter)
2g.144389939T>CCA348700827ZEB2c.*3006A>G (n.*3006A>G)
c.2380A>G (p.Lys794Glu)
c.3157A>G (p.Lys1053Glu)
n.3126A>G
c.2821A>G (p.Lys941Glu)
c.3232A>G (p.Lys1078Glu)
c.*2874A>G (n.*2874A>G)
n.3257A>G
c.151+6473A>G (n.151+6473A>G)
c.377A>G (n.377A>G)
c.688A>G (p.Lys230Glu)
c.3154A>G (p.Lys1052Glu)
c.656-1057A>G (n.656-1057A>G)
c.3085A>G (p.Lys1029Glu)
c.3148A>G (p.Lys1050Glu)
c.3136A>G (p.Lys1046Glu)
2g.144389939T>GCA348700829ZEB2c.*3006A>C (n.*3006A>C)
c.2380A>C (p.Lys794Gln)
c.3157A>C (p.Lys1053Gln)
n.3126A>C
c.2821A>C (p.Lys941Gln)
c.3232A>C (p.Lys1078Gln)
c.*2874A>C (n.*2874A>C)
n.3257A>C
c.151+6473A>C (n.151+6473A>C)
c.377A>C (n.377A>C)
c.688A>C (p.Lys230Gln)
c.3154A>C (p.Lys1052Gln)
c.656-1057A>C (n.656-1057A>C)
c.3085A>C (p.Lys1029Gln)
c.3148A>C (p.Lys1050Gln)
c.3136A>C (p.Lys1046Gln)
2g.144389940C>ACA348700847ZEB2c.*3005G>T (n.*3005G>T)
c.2379G>T (p.Glu793Asp)
c.3156G>T (p.Glu1052Asp)
n.3125G>T
c.2820G>T (p.Glu940Asp)
c.3231G>T (p.Glu1077Asp)
c.*2873G>T (n.*2873G>T)
n.3256G>T
c.151+6472G>T (n.151+6472G>T)
c.376G>T (n.376G>T)
c.687G>T (p.Glu229Asp)
c.3153G>T (p.Glu1051Asp)
c.656-1058G>T (n.656-1058G>T)
c.3084G>T (p.Glu1028Asp)
c.3147G>T (p.Glu1049Asp)
c.3135G>T (p.Glu1045Asp)
2g.144389940C>GCA348700851ZEB2c.*3005G>C (n.*3005G>C)
c.2379G>C (p.Glu793Asp)
c.3156G>C (p.Glu1052Asp)
n.3125G>C
c.2820G>C (p.Glu940Asp)
c.3231G>C (p.Glu1077Asp)
c.*2873G>C (n.*2873G>C)
n.3256G>C
c.151+6472G>C (n.151+6472G>C)
c.376G>C (n.376G>C)
c.687G>C (p.Glu229Asp)
c.3153G>C (p.Glu1051Asp)
c.656-1058G>C (n.656-1058G>C)
c.3084G>C (p.Glu1028Asp)
c.3147G>C (p.Glu1049Asp)
c.3135G>C (p.Glu1045Asp)
2g.144389940C>TCA429445497ZEB2c.*3005G>A (n.*3005G>A)
c.2379G>A (p.Glu793=)
c.3156G>A (p.Glu1052=)
n.3125G>A
c.2820G>A (p.Glu940=)
c.3231G>A (p.Glu1077=)
c.*2873G>A (n.*2873G>A)
n.3256G>A
c.151+6472G>A (n.151+6472G>A)
c.376G>A (n.376G>A)
c.687G>A (p.Glu229=)
c.3153G>A (p.Glu1051=)
c.656-1058G>A (n.656-1058G>A)
c.3084G>A (p.Glu1028=)
c.3147G>A (p.Glu1049=)
c.3135G>A (p.Glu1045=)
2g.144389941T>ACA348700859ZEB2c.*3004A>T (n.*3004A>T)
c.2378A>T (p.Glu793Val)
c.3155A>T (p.Glu1052Val)
n.3124A>T
c.2819A>T (p.Glu940Val)
c.3230A>T (p.Glu1077Val)
c.*2872A>T (n.*2872A>T)
n.3255A>T
c.151+6471A>T (n.151+6471A>T)
c.375A>T (n.375A>T)
c.686A>T (p.Glu229Val)
c.3152A>T (p.Glu1051Val)
c.656-1059A>T (n.656-1059A>T)
c.3083A>T (p.Glu1028Val)
c.3146A>T (p.Glu1049Val)
c.3134A>T (p.Glu1045Val)
2g.144389941T>CCA348700876ZEB2c.*3004A>G (n.*3004A>G)
c.2378A>G (p.Glu793Gly)
c.3155A>G (p.Glu1052Gly)
n.3124A>G
c.2819A>G (p.Glu940Gly)
c.3230A>G (p.Glu1077Gly)
c.*2872A>G (n.*2872A>G)
n.3255A>G
c.151+6471A>G (n.151+6471A>G)
c.375A>G (n.375A>G)
c.686A>G (p.Glu229Gly)
c.3152A>G (p.Glu1051Gly)
c.656-1059A>G (n.656-1059A>G)
c.3083A>G (p.Glu1028Gly)
c.3146A>G (p.Glu1049Gly)
c.3134A>G (p.Glu1045Gly)
2g.144389941T>GCA348700881ZEB2c.*3004A>C (n.*3004A>C)
c.2378A>C (p.Glu793Ala)
c.3155A>C (p.Glu1052Ala)
n.3124A>C
c.2819A>C (p.Glu940Ala)
c.3230A>C (p.Glu1077Ala)
c.*2872A>C (n.*2872A>C)
n.3255A>C
c.151+6471A>C (n.151+6471A>C)
c.375A>C (n.375A>C)
c.686A>C (p.Glu229Ala)
c.3152A>C (p.Glu1051Ala)
c.656-1059A>C (n.656-1059A>C)
c.3083A>C (p.Glu1028Ala)
c.3146A>C (p.Glu1049Ala)
c.3134A>C (p.Glu1045Ala)
2g.144389942C>ACA348700885ZEB2c.*3003G>T (n.*3003G>T)
c.2377G>T (p.Glu793Ter)
c.3154G>T (p.Glu1052Ter)
n.3123G>T
c.2818G>T (p.Glu940Ter)
c.3229G>T (p.Glu1077Ter)
c.*2871G>T (n.*2871G>T)
n.3254G>T
c.151+6470G>T (n.151+6470G>T)
c.374G>T (n.374G>T)
c.685G>T (p.Glu229Ter)
c.3151G>T (p.Glu1051Ter)
c.656-1060G>T (n.656-1060G>T)
c.3082G>T (p.Glu1028Ter)
c.3145G>T (p.Glu1049Ter)
c.3133G>T (p.Glu1045Ter)
 ClinVar dbSNP
2g.144389942C>GCA348700888ZEB2c.*3003G>C (n.*3003G>C)
c.2377G>C (p.Glu793Gln)
c.3154G>C (p.Glu1052Gln)
n.3123G>C
c.2818G>C (p.Glu940Gln)
c.3229G>C (p.Glu1077Gln)
c.*2871G>C (n.*2871G>C)
n.3254G>C
c.151+6470G>C (n.151+6470G>C)
c.374G>C (n.374G>C)
c.685G>C (p.Glu229Gln)
c.3151G>C (p.Glu1051Gln)
c.656-1060G>C (n.656-1060G>C)
c.3082G>C (p.Glu1028Gln)
c.3145G>C (p.Glu1049Gln)
c.3133G>C (p.Glu1045Gln)
2g.144389942C>TCA348700896ZEB2c.*3003G>A (n.*3003G>A)
c.2377G>A (p.Glu793Lys)
c.3154G>A (p.Glu1052Lys)
n.3123G>A
c.2818G>A (p.Glu940Lys)
c.3229G>A (p.Glu1077Lys)
c.*2871G>A (n.*2871G>A)
n.3254G>A
c.151+6470G>A (n.151+6470G>A)
c.374G>A (n.374G>A)
c.685G>A (p.Glu229Lys)
c.3151G>A (p.Glu1051Lys)
c.656-1060G>A (n.656-1060G>A)
c.3082G>A (p.Glu1028Lys)
c.3145G>A (p.Glu1049Lys)
c.3133G>A (p.Glu1045Lys)
 gnomAD v4
2g.144389943G>ACA16603874ZEB2c.*3002C>T (n.*3002C>T)
c.2376C>T (p.Gly792=)
c.3153C>T (p.Gly1051=)
n.3122C>T
c.2817C>T (p.Gly939=)
c.3228C>T (p.Gly1076=)
c.*2870C>T (n.*2870C>T)
n.3253C>T
c.151+6469C>T (n.151+6469C>T)
c.373C>T (n.373C>T)
c.684C>T (p.Gly228=)
c.3150C>T (p.Gly1050=)
c.656-1061C>T (n.656-1061C>T)
c.3081C>T (p.Gly1027=)
c.3144C>T (p.Gly1048=)
c.3132C>T (p.Gly1044=)
 ClinVar dbSNP
2g.144389943G>CCA429445500ZEB2c.*3002C>G (n.*3002C>G)
c.2376C>G (p.Gly792=)
c.3153C>G (p.Gly1051=)
n.3122C>G
c.2817C>G (p.Gly939=)
c.3228C>G (p.Gly1076=)
c.*2870C>G (n.*2870C>G)
n.3253C>G
c.151+6469C>G (n.151+6469C>G)
c.373C>G (n.373C>G)
c.684C>G (p.Gly228=)
c.3150C>G (p.Gly1050=)
c.656-1061C>G (n.656-1061C>G)
c.3081C>G (p.Gly1027=)
c.3144C>G (p.Gly1048=)
c.3132C>G (p.Gly1044=)
2g.144389943G=CA1294881391ZEB2c.*3002C= (n.*3002C=)
c.2376C= (p.Gly792=)
c.3153C= (p.Gly1051=)
n.3122C=
c.2817C= (p.Gly939=)
c.3228C= (p.Gly1076=)
c.*2870C= (n.*2870C=)
n.3253C=
c.151+6469C= (n.151+6469C=)
c.373C= (n.373C=)
c.684C= (p.Gly228=)
c.3150C= (p.Gly1050=)
c.656-1061C= (n.656-1061C=)
c.3081C= (p.Gly1027=)
c.3144C= (p.Gly1048=)
c.3132C= (p.Gly1044=)
2g.144389943G>TCA429445499ZEB2c.*3002C>A (n.*3002C>A)
c.2376C>A (p.Gly792=)
c.3153C>A (p.Gly1051=)
n.3122C>A
c.2817C>A (p.Gly939=)
c.3228C>A (p.Gly1076=)
c.*2870C>A (n.*2870C>A)
n.3253C>A
c.151+6469C>A (n.151+6469C>A)
c.373C>A (n.373C>A)
c.684C>A (p.Gly228=)
c.3150C>A (p.Gly1050=)
c.656-1061C>A (n.656-1061C>A)
c.3081C>A (p.Gly1027=)
c.3144C>A (p.Gly1048=)
c.3132C>A (p.Gly1044=)
 gnomAD v4
2g.144389944C>ACA348700902ZEB2c.*3001G>T (n.*3001G>T)
c.2375G>T (p.Gly792Val)
c.3152G>T (p.Gly1051Val)
n.3121G>T
c.2816G>T (p.Gly939Val)
c.3227G>T (p.Gly1076Val)
c.*2869G>T (n.*2869G>T)
n.3252G>T
c.151+6468G>T (n.151+6468G>T)
c.372G>T (n.372G>T)
c.683G>T (p.Gly228Val)
c.3149G>T (p.Gly1050Val)
c.656-1062G>T (n.656-1062G>T)
c.3080G>T (p.Gly1027Val)
c.3143G>T (p.Gly1048Val)
c.3131G>T (p.Gly1044Val)
2g.144389944C>GCA348700900ZEB2c.*3001G>C (n.*3001G>C)
c.2375G>C (p.Gly792Ala)
c.3152G>C (p.Gly1051Ala)
n.3121G>C
c.2816G>C (p.Gly939Ala)
c.3227G>C (p.Gly1076Ala)
c.*2869G>C (n.*2869G>C)
n.3252G>C
c.151+6468G>C (n.151+6468G>C)
c.372G>C (n.372G>C)
c.683G>C (p.Gly228Ala)
c.3149G>C (p.Gly1050Ala)
c.656-1062G>C (n.656-1062G>C)
c.3080G>C (p.Gly1027Ala)
c.3143G>C (p.Gly1048Ala)
c.3131G>C (p.Gly1044Ala)
2g.144389944C>TCA348700901ZEB2c.*3001G>A (n.*3001G>A)
c.2375G>A (p.Gly792Asp)
c.3152G>A (p.Gly1051Asp)
n.3121G>A
c.2816G>A (p.Gly939Asp)
c.3227G>A (p.Gly1076Asp)
c.*2869G>A (n.*2869G>A)
n.3252G>A
c.151+6468G>A (n.151+6468G>A)
c.372G>A (n.372G>A)
c.683G>A (p.Gly228Asp)
c.3149G>A (p.Gly1050Asp)
c.656-1062G>A (n.656-1062G>A)
c.3080G>A (p.Gly1027Asp)
c.3143G>A (p.Gly1048Asp)
c.3131G>A (p.Gly1044Asp)
2g.144389945C>ACA348700905ZEB2c.*3000G>T (n.*3000G>T)
c.2374G>T (p.Gly792Cys)
c.3151G>T (p.Gly1051Cys)
n.3120G>T
c.2815G>T (p.Gly939Cys)
c.3226G>T (p.Gly1076Cys)
c.*2868G>T (n.*2868G>T)
n.3251G>T
c.151+6467G>T (n.151+6467G>T)
c.371G>T (n.371G>T)
c.682G>T (p.Gly228Cys)
c.3148G>T (p.Gly1050Cys)
c.656-1063G>T (n.656-1063G>T)
c.3079G>T (p.Gly1027Cys)
c.3142G>T (p.Gly1048Cys)
c.3130G>T (p.Gly1044Cys)
2g.144389945C>GCA348700907ZEB2c.*3000G>C (n.*3000G>C)
c.2374G>C (p.Gly792Arg)
c.3151G>C (p.Gly1051Arg)
n.3120G>C
c.2815G>C (p.Gly939Arg)
c.3226G>C (p.Gly1076Arg)
c.*2868G>C (n.*2868G>C)
n.3251G>C
c.151+6467G>C (n.151+6467G>C)
c.371G>C (n.371G>C)
c.682G>C (p.Gly228Arg)
c.3148G>C (p.Gly1050Arg)
c.656-1063G>C (n.656-1063G>C)
c.3079G>C (p.Gly1027Arg)
c.3142G>C (p.Gly1048Arg)
c.3130G>C (p.Gly1044Arg)
2g.144389945C>TCA348700908ZEB2c.*3000G>A (n.*3000G>A)
c.2374G>A (p.Gly792Ser)
c.3151G>A (p.Gly1051Ser)
n.3120G>A
c.2815G>A (p.Gly939Ser)
c.3226G>A (p.Gly1076Ser)
c.*2868G>A (n.*2868G>A)
n.3251G>A
c.151+6467G>A (n.151+6467G>A)
c.371G>A (n.371G>A)
c.682G>A (p.Gly228Ser)
c.3148G>A (p.Gly1050Ser)
c.656-1063G>A (n.656-1063G>A)
c.3079G>A (p.Gly1027Ser)
c.3142G>A (p.Gly1048Ser)
c.3130G>A (p.Gly1044Ser)
2g.144389946C>ACA429445503ZEB2c.*2999G>T (n.*2999G>T)
c.2373G>T (p.Ser791=)
c.3150G>T (p.Ser1050=)
n.3119G>T
c.2814G>T (p.Ser938=)
c.3225G>T (p.Ser1075=)
c.*2867G>T (n.*2867G>T)
n.3250G>T
c.151+6466G>T (n.151+6466G>T)
c.370G>T (n.370G>T)
c.681G>T (p.Ser227=)
c.3147G>T (p.Ser1049=)
c.656-1064G>T (n.656-1064G>T)
c.3078G>T (p.Ser1026=)
c.3141G>T (p.Ser1047=)
c.3129G>T (p.Ser1043=)
2g.144389946C=CA1294881392ZEB2c.*2999G= (n.*2999G=)
c.2373G= (p.Ser791=)
c.3150G= (p.Ser1050=)
n.3119G=
c.2814G= (p.Ser938=)
c.3225G= (p.Ser1075=)
c.*2867G= (n.*2867G=)
n.3250G=
c.151+6466G= (n.151+6466G=)
c.370G= (n.370G=)
c.681G= (p.Ser227=)
c.3147G= (p.Ser1049=)
c.656-1064G= (n.656-1064G=)
c.3078G= (p.Ser1026=)
c.3141G= (p.Ser1047=)
c.3129G= (p.Ser1043=)
2g.144389946C>GCA429445504ZEB2c.*2999G>C (n.*2999G>C)
c.2373G>C (p.Ser791=)
c.3150G>C (p.Ser1050=)
n.3119G>C
c.2814G>C (p.Ser938=)
c.3225G>C (p.Ser1075=)
c.*2867G>C (n.*2867G>C)
n.3250G>C
c.151+6466G>C (n.151+6466G>C)
c.370G>C (n.370G>C)
c.681G>C (p.Ser227=)
c.3147G>C (p.Ser1049=)
c.656-1064G>C (n.656-1064G>C)
c.3078G>C (p.Ser1026=)
c.3141G>C (p.Ser1047=)
c.3129G>C (p.Ser1043=)
 gnomAD v4
2g.144389946C>TCA429445506ZEB2c.*2999G>A (n.*2999G>A)
c.2373G>A (p.Ser791=)
c.3150G>A (p.Ser1050=)
n.3119G>A
c.2814G>A (p.Ser938=)
c.3225G>A (p.Ser1075=)
c.*2867G>A (n.*2867G>A)
n.3250G>A
c.151+6466G>A (n.151+6466G>A)
c.370G>A (n.370G>A)
c.681G>A (p.Ser227=)
c.3147G>A (p.Ser1049=)
c.656-1064G>A (n.656-1064G>A)
c.3078G>A (p.Ser1026=)
c.3141G>A (p.Ser1047=)
c.3129G>A (p.Ser1043=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389947G>ACA348700909ZEB2c.*2998C>T (n.*2998C>T)
c.2372C>T (p.Ser791Leu)
c.3149C>T (p.Ser1050Leu)
n.3118C>T
c.2813C>T (p.Ser938Leu)
c.3224C>T (p.Ser1075Leu)
c.*2866C>T (n.*2866C>T)
n.3249C>T
c.151+6465C>T (n.151+6465C>T)
c.369C>T (n.369C>T)
c.680C>T (p.Ser227Leu)
c.3146C>T (p.Ser1049Leu)
c.656-1065C>T (n.656-1065C>T)
c.3077C>T (p.Ser1026Leu)
c.3140C>T (p.Ser1047Leu)
c.3128C>T (p.Ser1043Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144389947G>CCA348700912ZEB2c.*2998C>G (n.*2998C>G)
c.2372C>G (p.Ser791Trp)
c.3149C>G (p.Ser1050Trp)
n.3118C>G
c.2813C>G (p.Ser938Trp)
c.3224C>G (p.Ser1075Trp)
c.*2866C>G (n.*2866C>G)
n.3249C>G
c.151+6465C>G (n.151+6465C>G)
c.369C>G (n.369C>G)
c.680C>G (p.Ser227Trp)
c.3146C>G (p.Ser1049Trp)
c.656-1065C>G (n.656-1065C>G)
c.3077C>G (p.Ser1026Trp)
c.3140C>G (p.Ser1047Trp)
c.3128C>G (p.Ser1043Trp)
 ClinVar dbSNP
2g.144389947G=CA1294881393ZEB2c.*2998C= (n.*2998C=)
c.2372C= (p.Ser791=)
c.3149C= (p.Ser1050=)
n.3118C=
c.2813C= (p.Ser938=)
c.3224C= (p.Ser1075=)
c.*2866C= (n.*2866C=)
n.3249C=
c.151+6465C= (n.151+6465C=)
c.369C= (n.369C=)
c.680C= (p.Ser227=)
c.3146C= (p.Ser1049=)
c.656-1065C= (n.656-1065C=)
c.3077C= (p.Ser1026=)
c.3140C= (p.Ser1047=)
c.3128C= (p.Ser1043=)
2g.144389947G>TCA348700921ZEB2c.*2998C>A (n.*2998C>A)
c.2372C>A (p.Ser791Ter)
c.3149C>A (p.Ser1050Ter)
n.3118C>A
c.2813C>A (p.Ser938Ter)
c.3224C>A (p.Ser1075Ter)
c.*2866C>A (n.*2866C>A)
n.3249C>A
c.151+6465C>A (n.151+6465C>A)
c.369C>A (n.369C>A)
c.680C>A (p.Ser227Ter)
c.3146C>A (p.Ser1049Ter)
c.656-1065C>A (n.656-1065C>A)
c.3077C>A (p.Ser1026Ter)
c.3140C>A (p.Ser1047Ter)
c.3128C>A (p.Ser1043Ter)
2g.144389948A>CCA348700929ZEB2c.*2997T>G (n.*2997T>G)
c.2371T>G (p.Ser791Ala)
c.3148T>G (p.Ser1050Ala)
n.3117T>G
c.2812T>G (p.Ser938Ala)
c.3223T>G (p.Ser1075Ala)
c.*2865T>G (n.*2865T>G)
n.3248T>G
c.151+6464T>G (n.151+6464T>G)
c.368T>G (n.368T>G)
c.679T>G (p.Ser227Ala)
c.3145T>G (p.Ser1049Ala)
c.656-1066T>G (n.656-1066T>G)
c.3076T>G (p.Ser1026Ala)
c.3139T>G (p.Ser1047Ala)
c.3127T>G (p.Ser1043Ala)
2g.144389948A>GCA348700932ZEB2c.*2997T>C (n.*2997T>C)
c.2371T>C (p.Ser791Pro)
c.3148T>C (p.Ser1050Pro)
n.3117T>C
c.2812T>C (p.Ser938Pro)
c.3223T>C (p.Ser1075Pro)
c.*2865T>C (n.*2865T>C)
n.3248T>C
c.151+6464T>C (n.151+6464T>C)
c.368T>C (n.368T>C)
c.679T>C (p.Ser227Pro)
c.3145T>C (p.Ser1049Pro)
c.656-1066T>C (n.656-1066T>C)
c.3076T>C (p.Ser1026Pro)
c.3139T>C (p.Ser1047Pro)
c.3127T>C (p.Ser1043Pro)
2g.144389948A>TCA348700939ZEB2c.*2997T>A (n.*2997T>A)
c.2371T>A (p.Ser791Thr)
c.3148T>A (p.Ser1050Thr)
n.3117T>A
c.2812T>A (p.Ser938Thr)
c.3223T>A (p.Ser1075Thr)
c.*2865T>A (n.*2865T>A)
n.3248T>A
c.151+6464T>A (n.151+6464T>A)
c.368T>A (n.368T>A)
c.679T>A (p.Ser227Thr)
c.3145T>A (p.Ser1049Thr)
c.656-1066T>A (n.656-1066T>A)
c.3076T>A (p.Ser1026Thr)
c.3139T>A (p.Ser1047Thr)
c.3127T>A (p.Ser1043Thr)
2g.144389948_144389949delinsAGCA1294881394ZEB2c.*2996_*2997delinsCT (n.*2996_*2997delinsCT)
c.2370_2371delinsCT (p.His790=)
c.3147_3148delinsCT (p.His1049=)
n.3116_3117delinsCT
c.2811_2812delinsCT (p.His937=)
c.3222_3223delinsCT (p.His1074=)
c.*2864_*2865delinsCT (n.*2864_*2865delinsCT)
n.3247_3248delinsCT
c.151+6463_151+6464delinsCT (n.151+6463_151+6464delinsCT)
c.367_368delinsCT (n.367_368delinsCT)
c.678_679delinsCT (p.His226=)
c.3144_3145delinsCT (p.His1048=)
c.656-1067_656-1066delinsCT (n.656-1067_656-1066delinsCT)
c.3075_3076delinsCT (p.His1025=)
c.3138_3139delinsCT (p.His1046=)
c.3126_3127delinsCT (p.His1042=)
2g.144389949delCA1139655622ZEB2c.*2996del (n.*2996del)
c.2370del (p.Ser791ArgfsTer25)
c.3147del (p.Ser1050ArgfsTer25)
n.3116del
c.2811del (p.Ser938ArgfsTer25)
c.3222del (p.Ser1075ArgfsTer25)
c.*2864del (n.*2864del)
n.3247del
c.151+6463del (n.151+6463del)
c.367del (n.367del)
c.678del (p.Ser227ArgfsTer25)
c.3144del (p.Ser1049ArgfsTer25)
c.656-1067del (n.656-1067del)
c.3075del (p.Ser1026ArgfsTer25)
c.3138del (p.Ser1047ArgfsTer25)
c.3126del (p.Ser1043ArgfsTer25)
 ClinVar dbSNP
2g.144389949G>ACA429445508ZEB2c.*2996C>T (n.*2996C>T)
c.2370C>T (p.His790=)
c.3147C>T (p.His1049=)
n.3116C>T
c.2811C>T (p.His937=)
c.3222C>T (p.His1074=)
c.*2864C>T (n.*2864C>T)
n.3247C>T
c.151+6463C>T (n.151+6463C>T)
c.367C>T (n.367C>T)
c.678C>T (p.His226=)
c.3144C>T (p.His1048=)
c.656-1067C>T (n.656-1067C>T)
c.3075C>T (p.His1025=)
c.3138C>T (p.His1046=)
c.3126C>T (p.His1042=)
 COSMIC
2g.144389949G>CCA348700942ZEB2c.*2996C>G (n.*2996C>G)
c.2370C>G (p.His790Gln)
c.3147C>G (p.His1049Gln)
n.3116C>G
c.2811C>G (p.His937Gln)
c.3222C>G (p.His1074Gln)
c.*2864C>G (n.*2864C>G)
n.3247C>G
c.151+6463C>G (n.151+6463C>G)
c.367C>G (n.367C>G)
c.678C>G (p.His226Gln)
c.3144C>G (p.His1048Gln)
c.656-1067C>G (n.656-1067C>G)
c.3075C>G (p.His1025Gln)
c.3138C>G (p.His1046Gln)
c.3126C>G (p.His1042Gln)
2g.144389949G>TCA348700943ZEB2c.*2996C>A (n.*2996C>A)
c.2370C>A (p.His790Gln)
c.3147C>A (p.His1049Gln)
n.3116C>A
c.2811C>A (p.His937Gln)
c.3222C>A (p.His1074Gln)
c.*2864C>A (n.*2864C>A)
n.3247C>A
c.151+6463C>A (n.151+6463C>A)
c.367C>A (n.367C>A)
c.678C>A (p.His226Gln)
c.3144C>A (p.His1048Gln)
c.656-1067C>A (n.656-1067C>A)
c.3075C>A (p.His1025Gln)
c.3138C>A (p.His1046Gln)
c.3126C>A (p.His1042Gln)
 gnomAD v4
2g.144389950T>ACA348700948ZEB2c.*2995A>T (n.*2995A>T)
c.2369A>T (p.His790Leu)
c.3146A>T (p.His1049Leu)
n.3115A>T
c.2810A>T (p.His937Leu)
c.3221A>T (p.His1074Leu)
c.*2863A>T (n.*2863A>T)
n.3246A>T
c.151+6462A>T (n.151+6462A>T)
c.366A>T (n.366A>T)
c.677A>T (p.His226Leu)
c.3143A>T (p.His1048Leu)
c.656-1068A>T (n.656-1068A>T)
c.3074A>T (p.His1025Leu)
c.3137A>T (p.His1046Leu)
c.3125A>T (p.His1042Leu)
2g.144389950T>CCA348700958ZEB2c.*2995A>G (n.*2995A>G)
c.2369A>G (p.His790Arg)
c.3146A>G (p.His1049Arg)
n.3115A>G
c.2810A>G (p.His937Arg)
c.3221A>G (p.His1074Arg)
c.*2863A>G (n.*2863A>G)
n.3246A>G
c.151+6462A>G (n.151+6462A>G)
c.366A>G (n.366A>G)
c.677A>G (p.His226Arg)
c.3143A>G (p.His1048Arg)
c.656-1068A>G (n.656-1068A>G)
c.3074A>G (p.His1025Arg)
c.3137A>G (p.His1046Arg)
c.3125A>G (p.His1042Arg)
 ClinVar dbSNP
2g.144389950T>GCA348700945ZEB2c.*2995A>C (n.*2995A>C)
c.2369A>C (p.His790Pro)
c.3146A>C (p.His1049Pro)
n.3115A>C
c.2810A>C (p.His937Pro)
c.3221A>C (p.His1074Pro)
c.*2863A>C (n.*2863A>C)
n.3246A>C
c.151+6462A>C (n.151+6462A>C)
c.366A>C (n.366A>C)
c.677A>C (p.His226Pro)
c.3143A>C (p.His1048Pro)
c.656-1068A>C (n.656-1068A>C)
c.3074A>C (p.His1025Pro)
c.3137A>C (p.His1046Pro)
c.3125A>C (p.His1042Pro)
 ClinVar dbSNP
2g.144389950T=CA1294881395ZEB2c.*2995A= (n.*2995A=)
c.2369A= (p.His790=)
c.3146A= (p.His1049=)
n.3115A=
c.2810A= (p.His937=)
c.3221A= (p.His1074=)
c.*2863A= (n.*2863A=)
n.3246A=
c.151+6462A= (n.151+6462A=)
c.366A= (n.366A=)
c.677A= (p.His226=)
c.3143A= (p.His1048=)
c.656-1068A= (n.656-1068A=)
c.3074A= (p.His1025=)
c.3137A= (p.His1046=)
c.3125A= (p.His1042=)
2g.144389951G>ACA348700965ZEB2c.*2994C>T (n.*2994C>T)
c.2368C>T (p.His790Tyr)
c.3145C>T (p.His1049Tyr)
n.3114C>T
c.2809C>T (p.His937Tyr)
c.3220C>T (p.His1074Tyr)
c.*2862C>T (n.*2862C>T)
n.3245C>T
c.151+6461C>T (n.151+6461C>T)
c.365C>T (n.365C>T)
c.676C>T (p.His226Tyr)
c.3142C>T (p.His1048Tyr)
c.656-1069C>T (n.656-1069C>T)
c.3073C>T (p.His1025Tyr)
c.3136C>T (p.His1046Tyr)
c.3124C>T (p.His1042Tyr)
2g.144389951G>CCA348700977ZEB2c.*2994C>G (n.*2994C>G)
c.2368C>G (p.His790Asp)
c.3145C>G (p.His1049Asp)
n.3114C>G
c.2809C>G (p.His937Asp)
c.3220C>G (p.His1074Asp)
c.*2862C>G (n.*2862C>G)
n.3245C>G
c.151+6461C>G (n.151+6461C>G)
c.365C>G (n.365C>G)
c.676C>G (p.His226Asp)
c.3142C>G (p.His1048Asp)
c.656-1069C>G (n.656-1069C>G)
c.3073C>G (p.His1025Asp)
c.3136C>G (p.His1046Asp)
c.3124C>G (p.His1042Asp)
2g.144389951G>TCA348700979ZEB2c.*2994C>A (n.*2994C>A)
c.2368C>A (p.His790Asn)
c.3145C>A (p.His1049Asn)
n.3114C>A
c.2809C>A (p.His937Asn)
c.3220C>A (p.His1074Asn)
c.*2862C>A (n.*2862C>A)
n.3245C>A
c.151+6461C>A (n.151+6461C>A)
c.365C>A (n.365C>A)
c.676C>A (p.His226Asn)
c.3142C>A (p.His1048Asn)
c.656-1069C>A (n.656-1069C>A)
c.3073C>A (p.His1025Asn)
c.3136C>A (p.His1046Asn)
c.3124C>A (p.His1042Asn)
2g.144389952A=CA1294881396ZEB2c.*2993T= (n.*2993T=)
c.2367T= (p.Leu789=)
c.3144T= (p.Leu1048=)
n.3113T=
c.2808T= (p.Leu936=)
c.3219T= (p.Leu1073=)
c.*2861T= (n.*2861T=)
n.3244T=
c.151+6460T= (n.151+6460T=)
c.364T= (n.364T=)
c.675T= (p.Leu225=)
c.3141T= (p.Leu1047=)
c.656-1070T= (n.656-1070T=)
c.3072T= (p.Leu1024=)
c.3135T= (p.Leu1045=)
c.3123T= (p.Leu1041=)
2g.144389952A>CCA429445513ZEB2c.*2993T>G (n.*2993T>G)
c.2367T>G (p.Leu789=)
c.3144T>G (p.Leu1048=)
n.3113T>G
c.2808T>G (p.Leu936=)
c.3219T>G (p.Leu1073=)
c.*2861T>G (n.*2861T>G)
n.3244T>G
c.151+6460T>G (n.151+6460T>G)
c.364T>G (n.364T>G)
c.675T>G (p.Leu225=)
c.3141T>G (p.Leu1047=)
c.656-1070T>G (n.656-1070T>G)
c.3072T>G (p.Leu1024=)
c.3135T>G (p.Leu1045=)
c.3123T>G (p.Leu1041=)
 COSMIC
2g.144389952A>GCA429445515ZEB2c.*2993T>C (n.*2993T>C)
c.2367T>C (p.Leu789=)
c.3144T>C (p.Leu1048=)
n.3113T>C
c.2808T>C (p.Leu936=)
c.3219T>C (p.Leu1073=)
c.*2861T>C (n.*2861T>C)
n.3244T>C
c.151+6460T>C (n.151+6460T>C)
c.364T>C (n.364T>C)
c.675T>C (p.Leu225=)
c.3141T>C (p.Leu1047=)
c.656-1070T>C (n.656-1070T>C)
c.3072T>C (p.Leu1024=)
c.3135T>C (p.Leu1045=)
c.3123T>C (p.Leu1041=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389952A>TCA429445517ZEB2c.*2993T>A (n.*2993T>A)
c.2367T>A (p.Leu789=)
c.3144T>A (p.Leu1048=)
n.3113T>A
c.2808T>A (p.Leu936=)
c.3219T>A (p.Leu1073=)
c.*2861T>A (n.*2861T>A)
n.3244T>A
c.151+6460T>A (n.151+6460T>A)
c.364T>A (n.364T>A)
c.675T>A (p.Leu225=)
c.3141T>A (p.Leu1047=)
c.656-1070T>A (n.656-1070T>A)
c.3072T>A (p.Leu1024=)
c.3135T>A (p.Leu1045=)
c.3123T>A (p.Leu1041=)
2g.144389952_144389957delinsCTTGATAAGGTGCTCGACA2586969981ZEB2c.*2988_*2993delinsTCGAGCACCTTATCAAG (n.*2988_*2993delinsTCGAGCACCTTATCAAG)
c.2362_2367delinsTCGAGCACCTTATCAAG (p.Arg788SerfsTer32)
c.3139_3144delinsTCGAGCACCTTATCAAG (p.Arg1047SerfsTer32)
n.3108_3113delinsTCGAGCACCTTATCAAG
c.2803_2808delinsTCGAGCACCTTATCAAG (p.Arg935SerfsTer32)
c.3214_3219delinsTCGAGCACCTTATCAAG (p.Arg1072SerfsTer32)
c.*2856_*2861delinsTCGAGCACCTTATCAAG (n.*2856_*2861delinsTCGAGCACCTTATCAAG)
n.3239_3244delinsTCGAGCACCTTATCAAG
c.151+6455_151+6460delinsTCGAGCACCTTATCAAG (n.151+6455_151+6460delinsTCGAGCACCTTATCAAG)
c.359_364delinsTCGAGCACCTTATCAAG (n.359_364delinsTCGAGCACCTTATCAAG)
c.670_675delinsTCGAGCACCTTATCAAG (p.Arg224SerfsTer32)
c.3136_3141delinsTCGAGCACCTTATCAAG (p.Arg1046SerfsTer32)
c.656-1075_656-1070delinsTCGAGCACCTTATCAAG (n.656-1075_656-1070delinsTCGAGCACCTTATCAAG)
c.3067_3072delinsTCGAGCACCTTATCAAG (p.Arg1023SerfsTer32)
c.3130_3135delinsTCGAGCACCTTATCAAG (p.Arg1044SerfsTer32)
c.3118_3123delinsTCGAGCACCTTATCAAG (p.Arg1040SerfsTer32)
2g.144389953A>CCA348700984ZEB2c.*2992T>G (n.*2992T>G)
c.2366T>G (p.Leu789Arg)
c.3143T>G (p.Leu1048Arg)
n.3112T>G
c.2807T>G (p.Leu936Arg)
c.3218T>G (p.Leu1073Arg)
c.*2860T>G (n.*2860T>G)
n.3243T>G
c.151+6459T>G (n.151+6459T>G)
c.363T>G (n.363T>G)
c.674T>G (p.Leu225Arg)
c.3140T>G (p.Leu1047Arg)
c.656-1071T>G (n.656-1071T>G)
c.3071T>G (p.Leu1024Arg)
c.3134T>G (p.Leu1045Arg)
c.3122T>G (p.Leu1041Arg)
2g.144389953A>GCA348700986ZEB2c.*2992T>C (n.*2992T>C)
c.2366T>C (p.Leu789Pro)
c.3143T>C (p.Leu1048Pro)
n.3112T>C
c.2807T>C (p.Leu936Pro)
c.3218T>C (p.Leu1073Pro)
c.*2860T>C (n.*2860T>C)
n.3243T>C
c.151+6459T>C (n.151+6459T>C)
c.363T>C (n.363T>C)
c.674T>C (p.Leu225Pro)
c.3140T>C (p.Leu1047Pro)
c.656-1071T>C (n.656-1071T>C)
c.3071T>C (p.Leu1024Pro)
c.3134T>C (p.Leu1045Pro)
c.3122T>C (p.Leu1041Pro)
2g.144389953A>TCA348700989ZEB2c.*2992T>A (n.*2992T>A)
c.2366T>A (p.Leu789His)
c.3143T>A (p.Leu1048His)
n.3112T>A
c.2807T>A (p.Leu936His)
c.3218T>A (p.Leu1073His)
c.*2860T>A (n.*2860T>A)
n.3243T>A
c.151+6459T>A (n.151+6459T>A)
c.363T>A (n.363T>A)
c.674T>A (p.Leu225His)
c.3140T>A (p.Leu1047His)
c.656-1071T>A (n.656-1071T>A)
c.3071T>A (p.Leu1024His)
c.3134T>A (p.Leu1045His)
c.3122T>A (p.Leu1041His)
2g.144389954G>ACA348700992ZEB2c.*2991C>T (n.*2991C>T)
c.2365C>T (p.Leu789Phe)
c.3142C>T (p.Leu1048Phe)
n.3111C>T
c.2806C>T (p.Leu936Phe)
c.3217C>T (p.Leu1073Phe)
c.*2859C>T (n.*2859C>T)
n.3242C>T
c.151+6458C>T (n.151+6458C>T)
c.362C>T (n.362C>T)
c.673C>T (p.Leu225Phe)
c.3139C>T (p.Leu1047Phe)
c.656-1072C>T (n.656-1072C>T)
c.3070C>T (p.Leu1024Phe)
c.3133C>T (p.Leu1045Phe)
c.3121C>T (p.Leu1041Phe)
2g.144389954G>CCA348700998ZEB2c.*2991C>G (n.*2991C>G)
c.2365C>G (p.Leu789Val)
c.3142C>G (p.Leu1048Val)
n.3111C>G
c.2806C>G (p.Leu936Val)
c.3217C>G (p.Leu1073Val)
c.*2859C>G (n.*2859C>G)
n.3242C>G
c.151+6458C>G (n.151+6458C>G)
c.362C>G (n.362C>G)
c.673C>G (p.Leu225Val)
c.3139C>G (p.Leu1047Val)
c.656-1072C>G (n.656-1072C>G)
c.3070C>G (p.Leu1024Val)
c.3133C>G (p.Leu1045Val)
c.3121C>G (p.Leu1041Val)
2g.144389954G>TCA348701002ZEB2c.*2991C>A (n.*2991C>A)
c.2365C>A (p.Leu789Ile)
c.3142C>A (p.Leu1048Ile)
n.3111C>A
c.2806C>A (p.Leu936Ile)
c.3217C>A (p.Leu1073Ile)
c.*2859C>A (n.*2859C>A)
n.3242C>A
c.151+6458C>A (n.151+6458C>A)
c.362C>A (n.362C>A)
c.673C>A (p.Leu225Ile)
c.3139C>A (p.Leu1047Ile)
c.656-1072C>A (n.656-1072C>A)
c.3070C>A (p.Leu1024Ile)
c.3133C>A (p.Leu1045Ile)
c.3121C>A (p.Leu1041Ile)
 gnomAD v4
2g.144389955C>ACA348701008ZEB2c.*2990G>T (n.*2990G>T)
c.2364G>T (p.Arg788Ser)
c.3141G>T (p.Arg1047Ser)
n.3110G>T
c.2805G>T (p.Arg935Ser)
c.3216G>T (p.Arg1072Ser)
c.*2858G>T (n.*2858G>T)
n.3241G>T
c.151+6457G>T (n.151+6457G>T)
c.361G>T (n.361G>T)
c.672G>T (p.Arg224Ser)
c.3138G>T (p.Arg1046Ser)
c.656-1073G>T (n.656-1073G>T)
c.3069G>T (p.Arg1023Ser)
c.3132G>T (p.Arg1044Ser)
c.3120G>T (p.Arg1040Ser)
2g.144389955C=CA1294881397ZEB2c.*2990G= (n.*2990G=)
c.2364G= (p.Arg788=)
c.3141G= (p.Arg1047=)
n.3110G=
c.2805G= (p.Arg935=)
c.3216G= (p.Arg1072=)
c.*2858G= (n.*2858G=)
n.3241G=
c.151+6457G= (n.151+6457G=)
c.361G= (n.361G=)
c.672G= (p.Arg224=)
c.3138G= (p.Arg1046=)
c.656-1073G= (n.656-1073G=)
c.3069G= (p.Arg1023=)
c.3132G= (p.Arg1044=)
c.3120G= (p.Arg1040=)
2g.144389955C>GCA272827ZEB2c.*2990G>C (n.*2990G>C)
c.2364G>C (p.Arg788Ser)
c.3141G>C (p.Arg1047Ser)
n.3110G>C
c.2805G>C (p.Arg935Ser)
c.3216G>C (p.Arg1072Ser)
c.*2858G>C (n.*2858G>C)
n.3241G>C
c.151+6457G>C (n.151+6457G>C)
c.361G>C (n.361G>C)
c.672G>C (p.Arg224Ser)
c.3138G>C (p.Arg1046Ser)
c.656-1073G>C (n.656-1073G>C)
c.3069G>C (p.Arg1023Ser)
c.3132G>C (p.Arg1044Ser)
c.3120G>C (p.Arg1040Ser)
 ClinVar dbSNP
2g.144389955C>TCA429445519ZEB2c.*2990G>A (n.*2990G>A)
c.2364G>A (p.Arg788=)
c.3141G>A (p.Arg1047=)
n.3110G>A
c.2805G>A (p.Arg935=)
c.3216G>A (p.Arg1072=)
c.*2858G>A (n.*2858G>A)
n.3241G>A
c.151+6457G>A (n.151+6457G>A)
c.361G>A (n.361G>A)
c.672G>A (p.Arg224=)
c.3138G>A (p.Arg1046=)
c.656-1073G>A (n.656-1073G>A)
c.3069G>A (p.Arg1023=)
c.3132G>A (p.Arg1044=)
c.3120G>A (p.Arg1040=)
 COSMIC
2g.144389956C>ACA348701009ZEB2c.*2989G>T (n.*2989G>T)
c.2363G>T (p.Arg788Met)
c.3140G>T (p.Arg1047Met)
n.3109G>T
c.2804G>T (p.Arg935Met)
c.3215G>T (p.Arg1072Met)
c.*2857G>T (n.*2857G>T)
n.3240G>T
c.151+6456G>T (n.151+6456G>T)
c.360G>T (n.360G>T)
c.671G>T (p.Arg224Met)
c.3137G>T (p.Arg1046Met)
c.656-1074G>T (n.656-1074G>T)
c.3068G>T (p.Arg1023Met)
c.3131G>T (p.Arg1044Met)
c.3119G>T (p.Arg1040Met)
2g.144389956C>GCA348701010ZEB2c.*2989G>C (n.*2989G>C)
c.2363G>C (p.Arg788Thr)
c.3140G>C (p.Arg1047Thr)
n.3109G>C
c.2804G>C (p.Arg935Thr)
c.3215G>C (p.Arg1072Thr)
c.*2857G>C (n.*2857G>C)
n.3240G>C
c.151+6456G>C (n.151+6456G>C)
c.360G>C (n.360G>C)
c.671G>C (p.Arg224Thr)
c.3137G>C (p.Arg1046Thr)
c.656-1074G>C (n.656-1074G>C)
c.3068G>C (p.Arg1023Thr)
c.3131G>C (p.Arg1044Thr)
c.3119G>C (p.Arg1040Thr)
2g.144389956C>TCA348701012ZEB2c.*2989G>A (n.*2989G>A)
c.2363G>A (p.Arg788Lys)
c.3140G>A (p.Arg1047Lys)
n.3109G>A
c.2804G>A (p.Arg935Lys)
c.3215G>A (p.Arg1072Lys)
c.*2857G>A (n.*2857G>A)
n.3240G>A
c.151+6456G>A (n.151+6456G>A)
c.360G>A (n.360G>A)
c.671G>A (p.Arg224Lys)
c.3137G>A (p.Arg1046Lys)
c.656-1074G>A (n.656-1074G>A)
c.3068G>A (p.Arg1023Lys)
c.3131G>A (p.Arg1044Lys)
c.3119G>A (p.Arg1040Lys)
2g.144389957T>ACA348701016ZEB2c.*2988A>T (n.*2988A>T)
c.2362A>T (p.Arg788Trp)
c.3139A>T (p.Arg1047Trp)
n.3108A>T
c.2803A>T (p.Arg935Trp)
c.3214A>T (p.Arg1072Trp)
c.*2856A>T (n.*2856A>T)
n.3239A>T
c.151+6455A>T (n.151+6455A>T)
c.359A>T (n.359A>T)
c.670A>T (p.Arg224Trp)
c.3136A>T (p.Arg1046Trp)
c.656-1075A>T (n.656-1075A>T)
c.3067A>T (p.Arg1023Trp)
c.3130A>T (p.Arg1044Trp)
c.3118A>T (p.Arg1040Trp)
2g.144389957T>CCA348701020ZEB2c.*2988A>G (n.*2988A>G)
c.2362A>G (p.Arg788Gly)
c.3139A>G (p.Arg1047Gly)
n.3108A>G
c.2803A>G (p.Arg935Gly)
c.3214A>G (p.Arg1072Gly)
c.*2856A>G (n.*2856A>G)
n.3239A>G
c.151+6455A>G (n.151+6455A>G)
c.359A>G (n.359A>G)
c.670A>G (p.Arg224Gly)
c.3136A>G (p.Arg1046Gly)
c.656-1075A>G (n.656-1075A>G)
c.3067A>G (p.Arg1023Gly)
c.3130A>G (p.Arg1044Gly)
c.3118A>G (p.Arg1040Gly)
2g.144389957T>GCA429445522ZEB2c.*2988A>C (n.*2988A>C)
c.2362A>C (p.Arg788=)
c.3139A>C (p.Arg1047=)
n.3108A>C
c.2803A>C (p.Arg935=)
c.3214A>C (p.Arg1072=)
c.*2856A>C (n.*2856A>C)
n.3239A>C
c.151+6455A>C (n.151+6455A>C)
c.359A>C (n.359A>C)
c.670A>C (p.Arg224=)
c.3136A>C (p.Arg1046=)
c.656-1075A>C (n.656-1075A>C)
c.3067A>C (p.Arg1023=)
c.3130A>C (p.Arg1044=)
c.3118A>C (p.Arg1040=)
 gnomAD v4
2g.144389958T>ACA429445523ZEB2c.*2987A>T (n.*2987A>T)
c.2361A>T (p.Ser787=)
c.3138A>T (p.Ser1046=)
n.3107A>T
c.2802A>T (p.Ser934=)
c.3213A>T (p.Ser1071=)
c.*2855A>T (n.*2855A>T)
n.3238A>T
c.151+6454A>T (n.151+6454A>T)
c.358A>T (n.358A>T)
c.669A>T (p.Ser223=)
c.3135A>T (p.Ser1045=)
c.656-1076A>T (n.656-1076A>T)
c.3066A>T (p.Ser1022=)
c.3129A>T (p.Ser1043=)
c.3117A>T (p.Ser1039=)
2g.144389958T>CCA429445524ZEB2c.*2987A>G (n.*2987A>G)
c.2361A>G (p.Ser787=)
c.3138A>G (p.Ser1046=)
n.3107A>G
c.2802A>G (p.Ser934=)
c.3213A>G (p.Ser1071=)
c.*2855A>G (n.*2855A>G)
n.3238A>G
c.151+6454A>G (n.151+6454A>G)
c.358A>G (n.358A>G)
c.669A>G (p.Ser223=)
c.3135A>G (p.Ser1045=)
c.656-1076A>G (n.656-1076A>G)
c.3066A>G (p.Ser1022=)
c.3129A>G (p.Ser1043=)
c.3117A>G (p.Ser1039=)
 ClinVar gnomAD v4 COSMIC
2g.144389958T>GCA429445525ZEB2c.*2987A>C (n.*2987A>C)
c.2361A>C (p.Ser787=)
c.3138A>C (p.Ser1046=)
n.3107A>C
c.2802A>C (p.Ser934=)
c.3213A>C (p.Ser1071=)
c.*2855A>C (n.*2855A>C)
n.3238A>C
c.151+6454A>C (n.151+6454A>C)
c.358A>C (n.358A>C)
c.669A>C (p.Ser223=)
c.3135A>C (p.Ser1045=)
c.656-1076A>C (n.656-1076A>C)
c.3066A>C (p.Ser1022=)
c.3129A>C (p.Ser1043=)
c.3117A>C (p.Ser1039=)
2g.144389959G>ACA348701028ZEB2c.*2986C>T (n.*2986C>T)
c.2360C>T (p.Ser787Leu)
c.3137C>T (p.Ser1046Leu)
n.3106C>T
c.2801C>T (p.Ser934Leu)
c.3212C>T (p.Ser1071Leu)
c.*2854C>T (n.*2854C>T)
n.3237C>T
c.151+6453C>T (n.151+6453C>T)
c.357C>T (n.357C>T)
c.668C>T (p.Ser223Leu)
c.3134C>T (p.Ser1045Leu)
c.656-1077C>T (n.656-1077C>T)
c.3065C>T (p.Ser1022Leu)
c.3128C>T (p.Ser1043Leu)
c.3116C>T (p.Ser1039Leu)
2g.144389959G>CCA348701033ZEB2c.*2986C>G (n.*2986C>G)
c.2360C>G (p.Ser787Ter)
c.3137C>G (p.Ser1046Ter)
n.3106C>G
c.2801C>G (p.Ser934Ter)
c.3212C>G (p.Ser1071Ter)
c.*2854C>G (n.*2854C>G)
n.3237C>G
c.151+6453C>G (n.151+6453C>G)
c.357C>G (n.357C>G)
c.668C>G (p.Ser223Ter)
c.3134C>G (p.Ser1045Ter)
c.656-1077C>G (n.656-1077C>G)
c.3065C>G (p.Ser1022Ter)
c.3128C>G (p.Ser1043Ter)
c.3116C>G (p.Ser1039Ter)
2g.144389959G=CA1294881398ZEB2c.*2986C= (n.*2986C=)
c.2360C= (p.Ser787=)
c.3137C= (p.Ser1046=)
n.3106C=
c.2801C= (p.Ser934=)
c.3212C= (p.Ser1071=)
c.*2854C= (n.*2854C=)
n.3237C=
c.151+6453C= (n.151+6453C=)
c.357C= (n.357C=)
c.668C= (p.Ser223=)
c.3134C= (p.Ser1045=)
c.656-1077C= (n.656-1077C=)
c.3065C= (p.Ser1022=)
c.3128C= (p.Ser1043=)
c.3116C= (p.Ser1039=)
2g.144389959G>TCA277401ZEB2c.*2986C>A (n.*2986C>A)
c.2360C>A (p.Ser787Ter)
c.3137C>A (p.Ser1046Ter)
n.3106C>A
c.2801C>A (p.Ser934Ter)
c.3212C>A (p.Ser1071Ter)
c.*2854C>A (n.*2854C>A)
n.3237C>A
c.151+6453C>A (n.151+6453C>A)
c.357C>A (n.357C>A)
c.668C>A (p.Ser223Ter)
c.3134C>A (p.Ser1045Ter)
c.656-1077C>A (n.656-1077C>A)
c.3065C>A (p.Ser1022Ter)
c.3128C>A (p.Ser1043Ter)
c.3116C>A (p.Ser1039Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144389960A>CCA348701039ZEB2c.*2985T>G (n.*2985T>G)
c.2359T>G (p.Ser787Ala)
c.3136T>G (p.Ser1046Ala)
n.3105T>G
c.2800T>G (p.Ser934Ala)
c.3211T>G (p.Ser1071Ala)
c.*2853T>G (n.*2853T>G)
n.3236T>G
c.151+6452T>G (n.151+6452T>G)
c.356T>G (n.356T>G)
c.667T>G (p.Ser223Ala)
c.3133T>G (p.Ser1045Ala)
c.656-1078T>G (n.656-1078T>G)
c.3064T>G (p.Ser1022Ala)
c.3127T>G (p.Ser1043Ala)
c.3115T>G (p.Ser1039Ala)
2g.144389960A>GCA348701043ZEB2c.*2985T>C (n.*2985T>C)
c.2359T>C (p.Ser787Pro)
c.3136T>C (p.Ser1046Pro)
n.3105T>C
c.2800T>C (p.Ser934Pro)
c.3211T>C (p.Ser1071Pro)
c.*2853T>C (n.*2853T>C)
n.3236T>C
c.151+6452T>C (n.151+6452T>C)
c.356T>C (n.356T>C)
c.667T>C (p.Ser223Pro)
c.3133T>C (p.Ser1045Pro)
c.656-1078T>C (n.656-1078T>C)
c.3064T>C (p.Ser1022Pro)
c.3127T>C (p.Ser1043Pro)
c.3115T>C (p.Ser1039Pro)
2g.144389960A>TCA348701045ZEB2c.*2985T>A (n.*2985T>A)
c.2359T>A (p.Ser787Thr)
c.3136T>A (p.Ser1046Thr)
n.3105T>A
c.2800T>A (p.Ser934Thr)
c.3211T>A (p.Ser1071Thr)
c.*2853T>A (n.*2853T>A)
n.3236T>A
c.151+6452T>A (n.151+6452T>A)
c.356T>A (n.356T>A)
c.667T>A (p.Ser223Thr)
c.3133T>A (p.Ser1045Thr)
c.656-1078T>A (n.656-1078T>A)
c.3064T>A (p.Ser1022Thr)
c.3127T>A (p.Ser1043Thr)
c.3115T>A (p.Ser1039Thr)
2g.144389961G>ACA429445529ZEB2c.*2984C>T (n.*2984C>T)
c.2358C>T (p.His786=)
c.3135C>T (p.His1045=)
n.3104C>T
c.2799C>T (p.His933=)
c.3210C>T (p.His1070=)
c.*2852C>T (n.*2852C>T)
n.3235C>T
c.151+6451C>T (n.151+6451C>T)
c.355C>T (n.355C>T)
c.666C>T (p.His222=)
c.3132C>T (p.His1044=)
c.656-1079C>T (n.656-1079C>T)
c.3063C>T (p.His1021=)
c.3126C>T (p.His1042=)
c.3114C>T (p.His1038=)
2g.144389961G>CCA348701048ZEB2c.*2984C>G (n.*2984C>G)
c.2358C>G (p.His786Gln)
c.3135C>G (p.His1045Gln)
n.3104C>G
c.2799C>G (p.His933Gln)
c.3210C>G (p.His1070Gln)
c.*2852C>G (n.*2852C>G)
n.3235C>G
c.151+6451C>G (n.151+6451C>G)
c.355C>G (n.355C>G)
c.666C>G (p.His222Gln)
c.3132C>G (p.His1044Gln)
c.656-1079C>G (n.656-1079C>G)
c.3063C>G (p.His1021Gln)
c.3126C>G (p.His1042Gln)
c.3114C>G (p.His1038Gln)
2g.144389961G>TCA348701051ZEB2c.*2984C>A (n.*2984C>A)
c.2358C>A (p.His786Gln)
c.3135C>A (p.His1045Gln)
n.3104C>A
c.2799C>A (p.His933Gln)
c.3210C>A (p.His1070Gln)
c.*2852C>A (n.*2852C>A)
n.3235C>A
c.151+6451C>A (n.151+6451C>A)
c.355C>A (n.355C>A)
c.666C>A (p.His222Gln)
c.3132C>A (p.His1044Gln)
c.656-1079C>A (n.656-1079C>A)
c.3063C>A (p.His1021Gln)
c.3126C>A (p.His1042Gln)
c.3114C>A (p.His1038Gln)
 gnomAD v4
2g.144389962delCA2573133428ZEB2c.*2983del (n.*2983del)
c.2357del (p.His786ProfsTer30)
c.3134del (p.His1045ProfsTer30)
n.3103del
c.2798del (p.His933ProfsTer30)
c.3209del (p.His1070ProfsTer30)
c.*2851del (n.*2851del)
n.3234del
c.151+6450del (n.151+6450del)
c.354del (n.354del)
c.665del (p.His222ProfsTer30)
c.3131del (p.His1044ProfsTer30)
c.656-1080del (n.656-1080del)
c.3062del (p.His1021ProfsTer30)
c.3125del (p.His1042ProfsTer30)
c.3113del (p.His1038ProfsTer30)
 ClinVar dbSNP
2g.144389962T>ACA348701058ZEB2c.*2983A>T (n.*2983A>T)
c.2357A>T (p.His786Leu)
c.3134A>T (p.His1045Leu)
n.3103A>T
c.2798A>T (p.His933Leu)
c.3209A>T (p.His1070Leu)
c.*2851A>T (n.*2851A>T)
n.3234A>T
c.151+6450A>T (n.151+6450A>T)
c.354A>T (n.354A>T)
c.665A>T (p.His222Leu)
c.3131A>T (p.His1044Leu)
c.656-1080A>T (n.656-1080A>T)
c.3062A>T (p.His1021Leu)
c.3125A>T (p.His1042Leu)
c.3113A>T (p.His1038Leu)
 ClinVar
2g.144389962T>CCA264211ZEB2c.*2983A>G (n.*2983A>G)
c.2357A>G (p.His786Arg)
c.3134A>G (p.His1045Arg)
n.3103A>G
c.2798A>G (p.His933Arg)
c.3209A>G (p.His1070Arg)
c.*2851A>G (n.*2851A>G)
n.3234A>G
c.151+6450A>G (n.151+6450A>G)
c.354A>G (n.354A>G)
c.665A>G (p.His222Arg)
c.3131A>G (p.His1044Arg)
c.656-1080A>G (n.656-1080A>G)
c.3062A>G (p.His1021Arg)
c.3125A>G (p.His1042Arg)
c.3113A>G (p.His1038Arg)
 ClinVar dbSNP
2g.144389962T>GCA348701066ZEB2c.*2983A>C (n.*2983A>C)
c.2357A>C (p.His786Pro)
c.3134A>C (p.His1045Pro)
n.3103A>C
c.2798A>C (p.His933Pro)
c.3209A>C (p.His1070Pro)
c.*2851A>C (n.*2851A>C)
n.3234A>C
c.151+6450A>C (n.151+6450A>C)
c.354A>C (n.354A>C)
c.665A>C (p.His222Pro)
c.3131A>C (p.His1044Pro)
c.656-1080A>C (n.656-1080A>C)
c.3062A>C (p.His1021Pro)
c.3125A>C (p.His1042Pro)
c.3113A>C (p.His1038Pro)
2g.144389962T=CA1294881399ZEB2c.*2983A= (n.*2983A=)
c.2357A= (p.His786=)
c.3134A= (p.His1045=)
n.3103A=
c.2798A= (p.His933=)
c.3209A= (p.His1070=)
c.*2851A= (n.*2851A=)
n.3234A=
c.151+6450A= (n.151+6450A=)
c.354A= (n.354A=)
c.665A= (p.His222=)
c.3131A= (p.His1044=)
c.656-1080A= (n.656-1080A=)
c.3062A= (p.His1021=)
c.3125A= (p.His1042=)
c.3113A= (p.His1038=)
2g.144389963G>ACA348701075ZEB2c.*2982C>T (n.*2982C>T)
c.2356C>T (p.His786Tyr)
c.3133C>T (p.His1045Tyr)
n.3102C>T
c.2797C>T (p.His933Tyr)
c.3208C>T (p.His1070Tyr)
c.*2850C>T (n.*2850C>T)
n.3233C>T
c.151+6449C>T (n.151+6449C>T)
c.353C>T (n.353C>T)
c.664C>T (p.His222Tyr)
c.3130C>T (p.His1044Tyr)
c.656-1081C>T (n.656-1081C>T)
c.3061C>T (p.His1021Tyr)
c.3124C>T (p.His1042Tyr)
c.3112C>T (p.His1038Tyr)
 ClinVar dbSNP gnomAD v4
2g.144389963G>CCA348701078ZEB2c.*2982C>G (n.*2982C>G)
c.2356C>G (p.His786Asp)
c.3133C>G (p.His1045Asp)
n.3102C>G
c.2797C>G (p.His933Asp)
c.3208C>G (p.His1070Asp)
c.*2850C>G (n.*2850C>G)
n.3233C>G
c.151+6449C>G (n.151+6449C>G)
c.353C>G (n.353C>G)
c.664C>G (p.His222Asp)
c.3130C>G (p.His1044Asp)
c.656-1081C>G (n.656-1081C>G)
c.3061C>G (p.His1021Asp)
c.3124C>G (p.His1042Asp)
c.3112C>G (p.His1038Asp)
2g.144389963G=CA1294881400ZEB2c.*2982C= (n.*2982C=)
c.2356C= (p.His786=)
c.3133C= (p.His1045=)
n.3102C=
c.2797C= (p.His933=)
c.3208C= (p.His1070=)
c.*2850C= (n.*2850C=)
n.3233C=
c.151+6449C= (n.151+6449C=)
c.353C= (n.353C=)
c.664C= (p.His222=)
c.3130C= (p.His1044=)
c.656-1081C= (n.656-1081C=)
c.3061C= (p.His1021=)
c.3124C= (p.His1042=)
c.3112C= (p.His1038=)
2g.144389963G>TCA348701081ZEB2c.*2982C>A (n.*2982C>A)
c.2356C>A (p.His786Asn)
c.3133C>A (p.His1045Asn)
n.3102C>A
c.2797C>A (p.His933Asn)
c.3208C>A (p.His1070Asn)
c.*2850C>A (n.*2850C>A)
n.3233C>A
c.151+6449C>A (n.151+6449C>A)
c.353C>A (n.353C>A)
c.664C>A (p.His222Asn)
c.3130C>A (p.His1044Asn)
c.656-1081C>A (n.656-1081C>A)
c.3061C>A (p.His1021Asn)
c.3124C>A (p.His1042Asn)
c.3112C>A (p.His1038Asn)
 gnomAD v4
2g.144389964C>ACA348701088ZEB2c.*2981G>T (n.*2981G>T)
c.2355G>T (p.Glu785Asp)
c.3132G>T (p.Glu1044Asp)
n.3101G>T
c.2796G>T (p.Glu932Asp)
c.3207G>T (p.Glu1069Asp)
c.*2849G>T (n.*2849G>T)
n.3232G>T
c.151+6448G>T (n.151+6448G>T)
c.352G>T (n.352G>T)
c.663G>T (p.Glu221Asp)
c.3129G>T (p.Glu1043Asp)
c.656-1082G>T (n.656-1082G>T)
c.3060G>T (p.Glu1020Asp)
c.3123G>T (p.Glu1041Asp)
c.3111G>T (p.Glu1037Asp)
 gnomAD v4
2g.144389964C=CA1294881401ZEB2c.*2981G= (n.*2981G=)
c.2355G= (p.Glu785=)
c.3132G= (p.Glu1044=)
n.3101G=
c.2796G= (p.Glu932=)
c.3207G= (p.Glu1069=)
c.*2849G= (n.*2849G=)
n.3232G=
c.151+6448G= (n.151+6448G=)
c.352G= (n.352G=)
c.663G= (p.Glu221=)
c.3129G= (p.Glu1043=)
c.656-1082G= (n.656-1082G=)
c.3060G= (p.Glu1020=)
c.3123G= (p.Glu1041=)
c.3111G= (p.Glu1037=)
2g.144389964C>GCA348701085ZEB2c.*2981G>C (n.*2981G>C)
c.2355G>C (p.Glu785Asp)
c.3132G>C (p.Glu1044Asp)
n.3101G>C
c.2796G>C (p.Glu932Asp)
c.3207G>C (p.Glu1069Asp)
c.*2849G>C (n.*2849G>C)
n.3232G>C
c.151+6448G>C (n.151+6448G>C)
c.352G>C (n.352G>C)
c.663G>C (p.Glu221Asp)
c.3129G>C (p.Glu1043Asp)
c.656-1082G>C (n.656-1082G>C)
c.3060G>C (p.Glu1020Asp)
c.3123G>C (p.Glu1041Asp)
c.3111G>C (p.Glu1037Asp)
2g.144389964C>TCA429445532ZEB2c.*2981G>A (n.*2981G>A)
c.2355G>A (p.Glu785=)
c.3132G>A (p.Glu1044=)
n.3101G>A
c.2796G>A (p.Glu932=)
c.3207G>A (p.Glu1069=)
c.*2849G>A (n.*2849G>A)
n.3232G>A
c.151+6448G>A (n.151+6448G>A)
c.352G>A (n.352G>A)
c.663G>A (p.Glu221=)
c.3129G>A (p.Glu1043=)
c.656-1082G>A (n.656-1082G>A)
c.3060G>A (p.Glu1020=)
c.3123G>A (p.Glu1041=)
c.3111G>A (p.Glu1037=)
 dbSNP gnomAD v3 gnomAD v4
2g.144389965T>ACA348701091ZEB2c.*2980A>T (n.*2980A>T)
c.2354A>T (p.Glu785Val)
c.3131A>T (p.Glu1044Val)
n.3100A>T
c.2795A>T (p.Glu932Val)
c.3206A>T (p.Glu1069Val)
c.*2848A>T (n.*2848A>T)
n.3231A>T
c.151+6447A>T (n.151+6447A>T)
c.351A>T (n.351A>T)
c.662A>T (p.Glu221Val)
c.3128A>T (p.Glu1043Val)
c.656-1083A>T (n.656-1083A>T)
c.3059A>T (p.Glu1020Val)
c.3122A>T (p.Glu1041Val)
c.3110A>T (p.Glu1037Val)
 dbSNP
2g.144389965T>CCA348701102ZEB2c.*2980A>G (n.*2980A>G)
c.2354A>G (p.Glu785Gly)
c.3131A>G (p.Glu1044Gly)
n.3100A>G
c.2795A>G (p.Glu932Gly)
c.3206A>G (p.Glu1069Gly)
c.*2848A>G (n.*2848A>G)
n.3231A>G
c.151+6447A>G (n.151+6447A>G)
c.351A>G (n.351A>G)
c.662A>G (p.Glu221Gly)
c.3128A>G (p.Glu1043Gly)
c.656-1083A>G (n.656-1083A>G)
c.3059A>G (p.Glu1020Gly)
c.3122A>G (p.Glu1041Gly)
c.3110A>G (p.Glu1037Gly)
2g.144389965T>GCA348701094ZEB2c.*2980A>C (n.*2980A>C)
c.2354A>C (p.Glu785Ala)
c.3131A>C (p.Glu1044Ala)
n.3100A>C
c.2795A>C (p.Glu932Ala)
c.3206A>C (p.Glu1069Ala)
c.*2848A>C (n.*2848A>C)
n.3231A>C
c.151+6447A>C (n.151+6447A>C)
c.351A>C (n.351A>C)
c.662A>C (p.Glu221Ala)
c.3128A>C (p.Glu1043Ala)
c.656-1083A>C (n.656-1083A>C)
c.3059A>C (p.Glu1020Ala)
c.3122A>C (p.Glu1041Ala)
c.3110A>C (p.Glu1037Ala)
2g.144389966C>ACA348701103ZEB2c.*2979G>T (n.*2979G>T)
c.2353G>T (p.Glu785Ter)
c.3130G>T (p.Glu1044Ter)
n.3099G>T
c.2794G>T (p.Glu932Ter)
c.3205G>T (p.Glu1069Ter)
c.*2847G>T (n.*2847G>T)
n.3230G>T
c.151+6446G>T (n.151+6446G>T)
c.350G>T (n.350G>T)
c.661G>T (p.Glu221Ter)
c.3127G>T (p.Glu1043Ter)
c.656-1084G>T (n.656-1084G>T)
c.3058G>T (p.Glu1020Ter)
c.3121G>T (p.Glu1041Ter)
c.3109G>T (p.Glu1037Ter)
 gnomAD v4
2g.144389966C=CA1294881402ZEB2c.*2979G= (n.*2979G=)
c.2353G= (p.Glu785=)
c.3130G= (p.Glu1044=)
n.3099G=
c.2794G= (p.Glu932=)
c.3205G= (p.Glu1069=)
c.*2847G= (n.*2847G=)
n.3230G=
c.151+6446G= (n.151+6446G=)
c.350G= (n.350G=)
c.661G= (p.Glu221=)
c.3127G= (p.Glu1043=)
c.656-1084G= (n.656-1084G=)
c.3058G= (p.Glu1020=)
c.3121G= (p.Glu1041=)
c.3109G= (p.Glu1037=)
2g.144389966C>GCA348701104ZEB2c.*2979G>C (n.*2979G>C)
c.2353G>C (p.Glu785Gln)
c.3130G>C (p.Glu1044Gln)
n.3099G>C
c.2794G>C (p.Glu932Gln)
c.3205G>C (p.Glu1069Gln)
c.*2847G>C (n.*2847G>C)
n.3230G>C
c.151+6446G>C (n.151+6446G>C)
c.350G>C (n.350G>C)
c.661G>C (p.Glu221Gln)
c.3127G>C (p.Glu1043Gln)
c.656-1084G>C (n.656-1084G>C)
c.3058G>C (p.Glu1020Gln)
c.3121G>C (p.Glu1041Gln)
c.3109G>C (p.Glu1037Gln)
2g.144389966C>TCA297617ZEB2c.*2979G>A (n.*2979G>A)
c.2353G>A (p.Glu785Lys)
c.3130G>A (p.Glu1044Lys)
n.3099G>A
c.2794G>A (p.Glu932Lys)
c.3205G>A (p.Glu1069Lys)
c.*2847G>A (n.*2847G>A)
n.3230G>A
c.151+6446G>A (n.151+6446G>A)
c.350G>A (n.350G>A)
c.661G>A (p.Glu221Lys)
c.3127G>A (p.Glu1043Lys)
c.656-1084G>A (n.656-1084G>A)
c.3058G>A (p.Glu1020Lys)
c.3121G>A (p.Glu1041Lys)
c.3109G>A (p.Glu1037Lys)
 ClinVar dbSNP
2g.144389967G>ACA1898140ZEB2c.*2978C>T (n.*2978C>T)
c.2352C>T (p.Ile784=)
c.3129C>T (p.Ile1043=)
n.3098C>T
c.2793C>T (p.Ile931=)
c.3204C>T (p.Ile1068=)
c.*2846C>T (n.*2846C>T)
n.3229C>T
c.151+6445C>T (n.151+6445C>T)
c.349C>T (n.349C>T)
c.660C>T (p.Ile220=)
c.3126C>T (p.Ile1042=)
c.656-1085C>T (n.656-1085C>T)
c.3057C>T (p.Ile1019=)
c.3120C>T (p.Ile1040=)
c.3108C>T (p.Ile1036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389967G>CCA348701108ZEB2c.*2978C>G (n.*2978C>G)
c.2352C>G (p.Ile784Met)
c.3129C>G (p.Ile1043Met)
n.3098C>G
c.2793C>G (p.Ile931Met)
c.3204C>G (p.Ile1068Met)
c.*2846C>G (n.*2846C>G)
n.3229C>G
c.151+6445C>G (n.151+6445C>G)
c.349C>G (n.349C>G)
c.660C>G (p.Ile220Met)
c.3126C>G (p.Ile1042Met)
c.656-1085C>G (n.656-1085C>G)
c.3057C>G (p.Ile1019Met)
c.3120C>G (p.Ile1040Met)
c.3108C>G (p.Ile1036Met)
2g.144389967G=CA1294881403ZEB2c.*2978C= (n.*2978C=)
c.2352C= (p.Ile784=)
c.3129C= (p.Ile1043=)
n.3098C=
c.2793C= (p.Ile931=)
c.3204C= (p.Ile1068=)
c.*2846C= (n.*2846C=)
n.3229C=
c.151+6445C= (n.151+6445C=)
c.349C= (n.349C=)
c.660C= (p.Ile220=)
c.3126C= (p.Ile1042=)
c.656-1085C= (n.656-1085C=)
c.3057C= (p.Ile1019=)
c.3120C= (p.Ile1040=)
c.3108C= (p.Ile1036=)
2g.144389967G>TCA429445538ZEB2c.*2978C>A (n.*2978C>A)
c.2352C>A (p.Ile784=)
c.3129C>A (p.Ile1043=)
n.3098C>A
c.2793C>A (p.Ile931=)
c.3204C>A (p.Ile1068=)
c.*2846C>A (n.*2846C>A)
n.3229C>A
c.151+6445C>A (n.151+6445C>A)
c.349C>A (n.349C>A)
c.660C>A (p.Ile220=)
c.3126C>A (p.Ile1042=)
c.656-1085C>A (n.656-1085C>A)
c.3057C>A (p.Ile1019=)
c.3120C>A (p.Ile1040=)
c.3108C>A (p.Ile1036=)
 gnomAD v4
2g.144389968A>CCA348701118ZEB2c.*2977T>G (n.*2977T>G)
c.2351T>G (p.Ile784Ser)
c.3128T>G (p.Ile1043Ser)
n.3097T>G
c.2792T>G (p.Ile931Ser)
c.3203T>G (p.Ile1068Ser)
c.*2845T>G (n.*2845T>G)
n.3228T>G
c.151+6444T>G (n.151+6444T>G)
c.348T>G (n.348T>G)
c.659T>G (p.Ile220Ser)
c.3125T>G (p.Ile1042Ser)
c.656-1086T>G (n.656-1086T>G)
c.3056T>G (p.Ile1019Ser)
c.3119T>G (p.Ile1040Ser)
c.3107T>G (p.Ile1036Ser)
2g.144389968A>GCA348701120ZEB2c.*2977T>C (n.*2977T>C)
c.2351T>C (p.Ile784Thr)
c.3128T>C (p.Ile1043Thr)
n.3097T>C
c.2792T>C (p.Ile931Thr)
c.3203T>C (p.Ile1068Thr)
c.*2845T>C (n.*2845T>C)
n.3228T>C
c.151+6444T>C (n.151+6444T>C)
c.348T>C (n.348T>C)
c.659T>C (p.Ile220Thr)
c.3125T>C (p.Ile1042Thr)
c.656-1086T>C (n.656-1086T>C)
c.3056T>C (p.Ile1019Thr)
c.3119T>C (p.Ile1040Thr)
c.3107T>C (p.Ile1036Thr)
2g.144389968A>TCA348701125ZEB2c.*2977T>A (n.*2977T>A)
c.2351T>A (p.Ile784Asn)
c.3128T>A (p.Ile1043Asn)
n.3097T>A
c.2792T>A (p.Ile931Asn)
c.3203T>A (p.Ile1068Asn)
c.*2845T>A (n.*2845T>A)
n.3228T>A
c.151+6444T>A (n.151+6444T>A)
c.348T>A (n.348T>A)
c.659T>A (p.Ile220Asn)
c.3125T>A (p.Ile1042Asn)
c.656-1086T>A (n.656-1086T>A)
c.3056T>A (p.Ile1019Asn)
c.3119T>A (p.Ile1040Asn)
c.3107T>A (p.Ile1036Asn)
2g.144389968_144389971delinsCCA2586969982ZEB2c.*2974_*2977delinsG (n.*2974_*2977delinsG)
c.2348_2351delinsG (p.Leu783_Ile784delinsArg)
c.3125_3128delinsG (p.Leu1042_Ile1043delinsArg)
n.3094_3097delinsG
c.2789_2792delinsG (p.Leu930_Ile931delinsArg)
c.3200_3203delinsG (p.Leu1067_Ile1068delinsArg)
c.*2842_*2845delinsG (n.*2842_*2845delinsG)
n.3225_3228delinsG
c.151+6441_151+6444delinsG (n.151+6441_151+6444delinsG)
c.345_348delinsG (n.345_348delinsG)
c.656_659delinsG (p.Leu219_Ile220delinsArg)
c.3122_3125delinsG (p.Leu1041_Ile1042delinsArg)
c.656-1089_656-1086delinsG (n.656-1089_656-1086delinsG)
c.3053_3056delinsG (p.Leu1018_Ile1019delinsArg)
c.3116_3119delinsG (p.Leu1039_Ile1040delinsArg)
c.3104_3107delinsG (p.Leu1035_Ile1036delinsArg)
2g.144389969T>ACA348701130ZEB2c.*2976A>T (n.*2976A>T)
c.2350A>T (p.Ile784Phe)
c.3127A>T (p.Ile1043Phe)
n.3096A>T
c.2791A>T (p.Ile931Phe)
c.3202A>T (p.Ile1068Phe)
c.*2844A>T (n.*2844A>T)
n.3227A>T
c.151+6443A>T (n.151+6443A>T)
c.347A>T (n.347A>T)
c.658A>T (p.Ile220Phe)
c.3124A>T (p.Ile1042Phe)
c.656-1087A>T (n.656-1087A>T)
c.3055A>T (p.Ile1019Phe)
c.3118A>T (p.Ile1040Phe)
c.3106A>T (p.Ile1036Phe)
2g.144389969T>CCA348701133ZEB2c.*2976A>G (n.*2976A>G)
c.2350A>G (p.Ile784Val)
c.3127A>G (p.Ile1043Val)
n.3096A>G
c.2791A>G (p.Ile931Val)
c.3202A>G (p.Ile1068Val)
c.*2844A>G (n.*2844A>G)
n.3227A>G
c.151+6443A>G (n.151+6443A>G)
c.347A>G (n.347A>G)
c.658A>G (p.Ile220Val)
c.3124A>G (p.Ile1042Val)
c.656-1087A>G (n.656-1087A>G)
c.3055A>G (p.Ile1019Val)
c.3118A>G (p.Ile1040Val)
c.3106A>G (p.Ile1036Val)
 gnomAD v4
2g.144389969T>GCA348701138ZEB2c.*2976A>C (n.*2976A>C)
c.2350A>C (p.Ile784Leu)
c.3127A>C (p.Ile1043Leu)
n.3096A>C
c.2791A>C (p.Ile931Leu)
c.3202A>C (p.Ile1068Leu)
c.*2844A>C (n.*2844A>C)
n.3227A>C
c.151+6443A>C (n.151+6443A>C)
c.347A>C (n.347A>C)
c.658A>C (p.Ile220Leu)
c.3124A>C (p.Ile1042Leu)
c.656-1087A>C (n.656-1087A>C)
c.3055A>C (p.Ile1019Leu)
c.3118A>C (p.Ile1040Leu)
c.3106A>C (p.Ile1036Leu)
2g.144389970A>CCA429445540ZEB2c.*2975T>G (n.*2975T>G)
c.2349T>G (p.Leu783=)
c.3126T>G (p.Leu1042=)
n.3095T>G
c.2790T>G (p.Leu930=)
c.3201T>G (p.Leu1067=)
c.*2843T>G (n.*2843T>G)
n.3226T>G
c.151+6442T>G (n.151+6442T>G)
c.346T>G (n.346T>G)
c.657T>G (p.Leu219=)
c.3123T>G (p.Leu1041=)
c.656-1088T>G (n.656-1088T>G)
c.3054T>G (p.Leu1018=)
c.3117T>G (p.Leu1039=)
c.3105T>G (p.Leu1035=)
2g.144389970A>GCA429445542ZEB2c.*2975T>C (n.*2975T>C)
c.2349T>C (p.Leu783=)
c.3126T>C (p.Leu1042=)
n.3095T>C
c.2790T>C (p.Leu930=)
c.3201T>C (p.Leu1067=)
c.*2843T>C (n.*2843T>C)
n.3226T>C
c.151+6442T>C (n.151+6442T>C)
c.346T>C (n.346T>C)
c.657T>C (p.Leu219=)
c.3123T>C (p.Leu1041=)
c.656-1088T>C (n.656-1088T>C)
c.3054T>C (p.Leu1018=)
c.3117T>C (p.Leu1039=)
c.3105T>C (p.Leu1035=)
2g.144389970A>TCA429445541ZEB2c.*2975T>A (n.*2975T>A)
c.2349T>A (p.Leu783=)
c.3126T>A (p.Leu1042=)
n.3095T>A
c.2790T>A (p.Leu930=)
c.3201T>A (p.Leu1067=)
c.*2843T>A (n.*2843T>A)
n.3226T>A
c.151+6442T>A (n.151+6442T>A)
c.346T>A (n.346T>A)
c.657T>A (p.Leu219=)
c.3123T>A (p.Leu1041=)
c.656-1088T>A (n.656-1088T>A)
c.3054T>A (p.Leu1018=)
c.3117T>A (p.Leu1039=)
c.3105T>A (p.Leu1035=)
2g.144389970_144389971delCA2661359682ZEB2c.*2974_*2975del (n.*2974_*2975del)
c.2348_2349del (p.Leu783HisfsTer16)
c.3125_3126del (p.Leu1042HisfsTer16)
n.3094_3095del
c.2789_2790del (p.Leu930HisfsTer16)
c.3200_3201del (p.Leu1067HisfsTer16)
c.*2842_*2843del (n.*2842_*2843del)
n.3225_3226del
c.151+6441_151+6442del (n.151+6441_151+6442del)
c.345_346del (n.345_346del)
c.656_657del (p.Leu219HisfsTer16)
c.3122_3123del (p.Leu1041HisfsTer16)
c.656-1089_656-1088del (n.656-1089_656-1088del)
c.3053_3054del (p.Leu1018HisfsTer16)
c.3116_3117del (p.Leu1039HisfsTer16)
c.3104_3105del (p.Leu1035HisfsTer16)
 gnomAD v4
2g.144389971A>CCA348701142ZEB2c.*2974T>G (n.*2974T>G)
c.2348T>G (p.Leu783Arg)
c.3125T>G (p.Leu1042Arg)
n.3094T>G
c.2789T>G (p.Leu930Arg)
c.3200T>G (p.Leu1067Arg)
c.*2842T>G (n.*2842T>G)
n.3225T>G
c.151+6441T>G (n.151+6441T>G)
c.345T>G (n.345T>G)
c.656T>G (p.Leu219Arg)
c.3122T>G (p.Leu1041Arg)
c.656-1089T>G (n.656-1089T>G)
c.3053T>G (p.Leu1018Arg)
c.3116T>G (p.Leu1039Arg)
c.3104T>G (p.Leu1035Arg)
2g.144389971A>GCA348701144ZEB2c.*2974T>C (n.*2974T>C)
c.2348T>C (p.Leu783Pro)
c.3125T>C (p.Leu1042Pro)
n.3094T>C
c.2789T>C (p.Leu930Pro)
c.3200T>C (p.Leu1067Pro)
c.*2842T>C (n.*2842T>C)
n.3225T>C
c.151+6441T>C (n.151+6441T>C)
c.345T>C (n.345T>C)
c.656T>C (p.Leu219Pro)
c.3122T>C (p.Leu1041Pro)
c.656-1089T>C (n.656-1089T>C)
c.3053T>C (p.Leu1018Pro)
c.3116T>C (p.Leu1039Pro)
c.3104T>C (p.Leu1035Pro)
2g.144389971A>TCA348701152ZEB2c.*2974T>A (n.*2974T>A)
c.2348T>A (p.Leu783His)
c.3125T>A (p.Leu1042His)
n.3094T>A
c.2789T>A (p.Leu930His)
c.3200T>A (p.Leu1067His)
c.*2842T>A (n.*2842T>A)
n.3225T>A
c.151+6441T>A (n.151+6441T>A)
c.345T>A (n.345T>A)
c.656T>A (p.Leu219His)
c.3122T>A (p.Leu1041His)
c.656-1089T>A (n.656-1089T>A)
c.3053T>A (p.Leu1018His)
c.3116T>A (p.Leu1039His)
c.3104T>A (p.Leu1035His)
2g.144389971_144389974dupCA1139655623ZEB2c.*2971_*2974dup (n.*2971_*2974dup)
c.2345_2348dup (p.Ile784ProfsTer17)
c.3122_3125dup (p.Ile1043ProfsTer17)
n.3091_3094dup
c.2786_2789dup (p.Ile931ProfsTer17)
c.3197_3200dup (p.Ile1068ProfsTer17)
c.*2839_*2842dup (n.*2839_*2842dup)
n.3222_3225dup
c.151+6438_151+6441dup (n.151+6438_151+6441dup)
c.342_345dup (n.342_345dup)
c.653_656dup (p.Ile220ProfsTer17)
c.3119_3122dup (p.Ile1042ProfsTer17)
c.656-1092_656-1089dup (n.656-1092_656-1089dup)
c.3050_3053dup (p.Ile1019ProfsTer17)
c.3113_3116dup (p.Ile1040ProfsTer17)
c.3101_3104dup (p.Ile1036ProfsTer17)
 ClinVar
2g.144389972G>ACA348701165ZEB2c.*2973C>T (n.*2973C>T)
c.2347C>T (p.Leu783Phe)
c.3124C>T (p.Leu1042Phe)
n.3093C>T
c.2788C>T (p.Leu930Phe)
c.3199C>T (p.Leu1067Phe)
c.*2841C>T (n.*2841C>T)
n.3224C>T
c.151+6440C>T (n.151+6440C>T)
c.344C>T (n.344C>T)
c.655C>T (p.Leu219Phe)
c.3121C>T (p.Leu1041Phe)
c.656-1090C>T (n.656-1090C>T)
c.3052C>T (p.Leu1018Phe)
c.3115C>T (p.Leu1039Phe)
c.3103C>T (p.Leu1035Phe)
2g.144389972G>CCA348701153ZEB2c.*2973C>G (n.*2973C>G)
c.2347C>G (p.Leu783Val)
c.3124C>G (p.Leu1042Val)
n.3093C>G
c.2788C>G (p.Leu930Val)
c.3199C>G (p.Leu1067Val)
c.*2841C>G (n.*2841C>G)
n.3224C>G
c.151+6440C>G (n.151+6440C>G)
c.344C>G (n.344C>G)
c.655C>G (p.Leu219Val)
c.3121C>G (p.Leu1041Val)
c.656-1090C>G (n.656-1090C>G)
c.3052C>G (p.Leu1018Val)
c.3115C>G (p.Leu1039Val)
c.3103C>G (p.Leu1035Val)
2g.144389972G>TCA348701155ZEB2c.*2973C>A (n.*2973C>A)
c.2347C>A (p.Leu783Ile)
c.3124C>A (p.Leu1042Ile)
n.3093C>A
c.2788C>A (p.Leu930Ile)
c.3199C>A (p.Leu1067Ile)
c.*2841C>A (n.*2841C>A)
n.3224C>A
c.151+6440C>A (n.151+6440C>A)
c.344C>A (n.344C>A)
c.655C>A (p.Leu219Ile)
c.3121C>A (p.Leu1041Ile)
c.656-1090C>A (n.656-1090C>A)
c.3052C>A (p.Leu1018Ile)
c.3115C>A (p.Leu1039Ile)
c.3103C>A (p.Leu1035Ile)
 gnomAD v4
2g.144389976_144389978dupCA2739271221ZEB2c.*2971_*2973dup (n.*2971_*2973dup)
c.2345_2347dup (p.His782_Leu783insHis)
c.3122_3124dup (p.His1041_Leu1042insHis)
n.3091_3093dup
c.2786_2788dup (p.His929_Leu930insHis)
c.3197_3199dup (p.His1066_Leu1067insHis)
c.*2839_*2841dup (n.*2839_*2841dup)
n.3222_3224dup
c.151+6438_151+6440dup (n.151+6438_151+6440dup)
c.342_344dup (n.342_344dup)
c.653_655dup (p.His218_Leu219insHis)
c.3119_3121dup (p.His1040_Leu1041insHis)
c.656-1092_656-1090dup (n.656-1092_656-1090dup)
c.3050_3052dup (p.His1017_Leu1018insHis)
c.3113_3115dup (p.His1038_Leu1039insHis)
c.3101_3103dup (p.His1034_Leu1035insHis)
 ClinVar
2g.144389973G>ACA429445546ZEB2c.*2972C>T (n.*2972C>T)
c.2346C>T (p.His782=)
c.3123C>T (p.His1041=)
n.3092C>T
c.2787C>T (p.His929=)
c.3198C>T (p.His1066=)
c.*2840C>T (n.*2840C>T)
n.3223C>T
c.151+6439C>T (n.151+6439C>T)
c.343C>T (n.343C>T)
c.654C>T (p.His218=)
c.3120C>T (p.His1040=)
c.656-1091C>T (n.656-1091C>T)
c.3051C>T (p.His1017=)
c.3114C>T (p.His1038=)
c.3102C>T (p.His1034=)
 gnomAD v4
2g.144389973G>CCA348701169ZEB2c.*2972C>G (n.*2972C>G)
c.2346C>G (p.His782Gln)
c.3123C>G (p.His1041Gln)
n.3092C>G
c.2787C>G (p.His929Gln)
c.3198C>G (p.His1066Gln)
c.*2840C>G (n.*2840C>G)
n.3223C>G
c.151+6439C>G (n.151+6439C>G)
c.343C>G (n.343C>G)
c.654C>G (p.His218Gln)
c.3120C>G (p.His1040Gln)
c.656-1091C>G (n.656-1091C>G)
c.3051C>G (p.His1017Gln)
c.3114C>G (p.His1038Gln)
c.3102C>G (p.His1034Gln)
2g.144389973G>TCA348701174ZEB2c.*2972C>A (n.*2972C>A)
c.2346C>A (p.His782Gln)
c.3123C>A (p.His1041Gln)
n.3092C>A
c.2787C>A (p.His929Gln)
c.3198C>A (p.His1066Gln)
c.*2840C>A (n.*2840C>A)
n.3223C>A
c.151+6439C>A (n.151+6439C>A)
c.343C>A (n.343C>A)
c.654C>A (p.His218Gln)
c.3120C>A (p.His1040Gln)
c.656-1091C>A (n.656-1091C>A)
c.3051C>A (p.His1017Gln)
c.3114C>A (p.His1038Gln)
c.3102C>A (p.His1034Gln)
2g.144389974T>ACA348701179ZEB2c.*2971A>T (n.*2971A>T)
c.2345A>T (p.His782Leu)
c.3122A>T (p.His1041Leu)
n.3091A>T
c.2786A>T (p.His929Leu)
c.3197A>T (p.His1066Leu)
c.*2839A>T (n.*2839A>T)
n.3222A>T
c.151+6438A>T (n.151+6438A>T)
c.342A>T (n.342A>T)
c.653A>T (p.His218Leu)
c.3119A>T (p.His1040Leu)
c.656-1092A>T (n.656-1092A>T)
c.3050A>T (p.His1017Leu)
c.3113A>T (p.His1038Leu)
c.3101A>T (p.His1034Leu)
2g.144389974T>CCA348701192ZEB2c.*2971A>G (n.*2971A>G)
c.2345A>G (p.His782Arg)
c.3122A>G (p.His1041Arg)
n.3091A>G
c.2786A>G (p.His929Arg)
c.3197A>G (p.His1066Arg)
c.*2839A>G (n.*2839A>G)
n.3222A>G
c.151+6438A>G (n.151+6438A>G)
c.342A>G (n.342A>G)
c.653A>G (p.His218Arg)
c.3119A>G (p.His1040Arg)
c.656-1092A>G (n.656-1092A>G)
c.3050A>G (p.His1017Arg)
c.3113A>G (p.His1038Arg)
c.3101A>G (p.His1034Arg)
 ClinVar dbSNP
2g.144389974T>GCA348701193ZEB2c.*2971A>C (n.*2971A>C)
c.2345A>C (p.His782Pro)
c.3122A>C (p.His1041Pro)
n.3091A>C
c.2786A>C (p.His929Pro)
c.3197A>C (p.His1066Pro)
c.*2839A>C (n.*2839A>C)
n.3222A>C
c.151+6438A>C (n.151+6438A>C)
c.342A>C (n.342A>C)
c.653A>C (p.His218Pro)
c.3119A>C (p.His1040Pro)
c.656-1092A>C (n.656-1092A>C)
c.3050A>C (p.His1017Pro)
c.3113A>C (p.His1038Pro)
c.3101A>C (p.His1034Pro)
2g.144389974T=CA1294881404ZEB2c.*2971A= (n.*2971A=)
c.2345A= (p.His782=)
c.3122A= (p.His1041=)
n.3091A=
c.2786A= (p.His929=)
c.3197A= (p.His1066=)
c.*2839A= (n.*2839A=)
n.3222A=
c.151+6438A= (n.151+6438A=)
c.342A= (n.342A=)
c.653A= (p.His218=)
c.3119A= (p.His1040=)
c.656-1092A= (n.656-1092A=)
c.3050A= (p.His1017=)
c.3113A= (p.His1038=)
c.3101A= (p.His1034=)
2g.144389975G>ACA348701201ZEB2c.*2970C>T (n.*2970C>T)
c.2344C>T (p.His782Tyr)
c.3121C>T (p.His1041Tyr)
n.3090C>T
c.2785C>T (p.His929Tyr)
c.3196C>T (p.His1066Tyr)
c.*2838C>T (n.*2838C>T)
n.3221C>T
c.151+6437C>T (n.151+6437C>T)
c.341C>T (n.341C>T)
c.652C>T (p.His218Tyr)
c.3118C>T (p.His1040Tyr)
c.656-1093C>T (n.656-1093C>T)
c.3049C>T (p.His1017Tyr)
c.3112C>T (p.His1038Tyr)
c.3100C>T (p.His1034Tyr)
 gnomAD v4
2g.144389975G>CCA348701210ZEB2c.*2970C>G (n.*2970C>G)
c.2344C>G (p.His782Asp)
c.3121C>G (p.His1041Asp)
n.3090C>G
c.2785C>G (p.His929Asp)
c.3196C>G (p.His1066Asp)
c.*2838C>G (n.*2838C>G)
n.3221C>G
c.151+6437C>G (n.151+6437C>G)
c.341C>G (n.341C>G)
c.652C>G (p.His218Asp)
c.3118C>G (p.His1040Asp)
c.656-1093C>G (n.656-1093C>G)
c.3049C>G (p.His1017Asp)
c.3112C>G (p.His1038Asp)
c.3100C>G (p.His1034Asp)
2g.144389975G>TCA348701213ZEB2c.*2970C>A (n.*2970C>A)
c.2344C>A (p.His782Asn)
c.3121C>A (p.His1041Asn)
n.3090C>A
c.2785C>A (p.His929Asn)
c.3196C>A (p.His1066Asn)
c.*2838C>A (n.*2838C>A)
n.3221C>A
c.151+6437C>A (n.151+6437C>A)
c.341C>A (n.341C>A)
c.652C>A (p.His218Asn)
c.3118C>A (p.His1040Asn)
c.656-1093C>A (n.656-1093C>A)
c.3049C>A (p.His1017Asn)
c.3112C>A (p.His1038Asn)
c.3100C>A (p.His1034Asn)
 gnomAD v4
2g.144389976G>ACA1898141ZEB2c.*2969C>T (n.*2969C>T)
c.2343C>T (p.His781=)
c.3120C>T (p.His1040=)
n.3089C>T
c.2784C>T (p.His928=)
c.3195C>T (p.His1065=)
c.*2837C>T (n.*2837C>T)
n.3220C>T
c.151+6436C>T (n.151+6436C>T)
c.340C>T (n.340C>T)
c.651C>T (p.His217=)
c.3117C>T (p.His1039=)
c.656-1094C>T (n.656-1094C>T)
c.3048C>T (p.His1016=)
c.3111C>T (p.His1037=)
c.3099C>T (p.His1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389976G>CCA348701222ZEB2c.*2969C>G (n.*2969C>G)
c.2343C>G (p.His781Gln)
c.3120C>G (p.His1040Gln)
n.3089C>G
c.2784C>G (p.His928Gln)
c.3195C>G (p.His1065Gln)
c.*2837C>G (n.*2837C>G)
n.3220C>G
c.151+6436C>G (n.151+6436C>G)
c.340C>G (n.340C>G)
c.651C>G (p.His217Gln)
c.3117C>G (p.His1039Gln)
c.656-1094C>G (n.656-1094C>G)
c.3048C>G (p.His1016Gln)
c.3111C>G (p.His1037Gln)
c.3099C>G (p.His1033Gln)
2g.144389976G=CA1294881405ZEB2c.*2969C= (n.*2969C=)
c.2343C= (p.His781=)
c.3120C= (p.His1040=)
n.3089C=
c.2784C= (p.His928=)
c.3195C= (p.His1065=)
c.*2837C= (n.*2837C=)
n.3220C=
c.151+6436C= (n.151+6436C=)
c.340C= (n.340C=)
c.651C= (p.His217=)
c.3117C= (p.His1039=)
c.656-1094C= (n.656-1094C=)
c.3048C= (p.His1016=)
c.3111C= (p.His1037=)
c.3099C= (p.His1033=)
2g.144389976G>TCA348701224ZEB2c.*2969C>A (n.*2969C>A)
c.2343C>A (p.His781Gln)
c.3120C>A (p.His1040Gln)
n.3089C>A
c.2784C>A (p.His928Gln)
c.3195C>A (p.His1065Gln)
c.*2837C>A (n.*2837C>A)
n.3220C>A
c.151+6436C>A (n.151+6436C>A)
c.340C>A (n.340C>A)
c.651C>A (p.His217Gln)
c.3117C>A (p.His1039Gln)
c.656-1094C>A (n.656-1094C>A)
c.3048C>A (p.His1016Gln)
c.3111C>A (p.His1037Gln)
c.3099C>A (p.His1033Gln)
2g.144389977T>ACA348701243ZEB2c.*2968A>T (n.*2968A>T)
c.2342A>T (p.His781Leu)
c.3119A>T (p.His1040Leu)
n.3088A>T
c.2783A>T (p.His928Leu)
c.3194A>T (p.His1065Leu)
c.*2836A>T (n.*2836A>T)
n.3219A>T
c.151+6435A>T (n.151+6435A>T)
c.339A>T (n.339A>T)
c.650A>T (p.His217Leu)
c.3116A>T (p.His1039Leu)
c.656-1095A>T (n.656-1095A>T)
c.3047A>T (p.His1016Leu)
c.3110A>T (p.His1037Leu)
c.3098A>T (p.His1033Leu)
2g.144389977T>CCA348701232ZEB2c.*2968A>G (n.*2968A>G)
c.2342A>G (p.His781Arg)
c.3119A>G (p.His1040Arg)
n.3088A>G
c.2783A>G (p.His928Arg)
c.3194A>G (p.His1065Arg)
c.*2836A>G (n.*2836A>G)
n.3219A>G
c.151+6435A>G (n.151+6435A>G)
c.339A>G (n.339A>G)
c.650A>G (p.His217Arg)
c.3116A>G (p.His1039Arg)
c.656-1095A>G (n.656-1095A>G)
c.3047A>G (p.His1016Arg)
c.3110A>G (p.His1037Arg)
c.3098A>G (p.His1033Arg)
2g.144389977T>GCA348701229ZEB2c.*2968A>C (n.*2968A>C)
c.2342A>C (p.His781Pro)
c.3119A>C (p.His1040Pro)
n.3088A>C
c.2783A>C (p.His928Pro)
c.3194A>C (p.His1065Pro)
c.*2836A>C (n.*2836A>C)
n.3219A>C
c.151+6435A>C (n.151+6435A>C)
c.339A>C (n.339A>C)
c.650A>C (p.His217Pro)
c.3116A>C (p.His1039Pro)
c.656-1095A>C (n.656-1095A>C)
c.3047A>C (p.His1016Pro)
c.3110A>C (p.His1037Pro)
c.3098A>C (p.His1033Pro)
2g.144389978G>ACA348701254ZEB2c.*2967C>T (n.*2967C>T)
c.2341C>T (p.His781Tyr)
c.3118C>T (p.His1040Tyr)
n.3087C>T
c.2782C>T (p.His928Tyr)
c.3193C>T (p.His1065Tyr)
c.*2835C>T (n.*2835C>T)
n.3218C>T
c.151+6434C>T (n.151+6434C>T)
c.338C>T (n.338C>T)
c.649C>T (p.His217Tyr)
c.3115C>T (p.His1039Tyr)
c.656-1096C>T (n.656-1096C>T)
c.3046C>T (p.His1016Tyr)
c.3109C>T (p.His1037Tyr)
c.3097C>T (p.His1033Tyr)
 ClinVar dbSNP
2g.144389978G>CCA348701250ZEB2c.*2967C>G (n.*2967C>G)
c.2341C>G (p.His781Asp)
c.3118C>G (p.His1040Asp)
n.3087C>G
c.2782C>G (p.His928Asp)
c.3193C>G (p.His1065Asp)
c.*2835C>G (n.*2835C>G)
n.3218C>G
c.151+6434C>G (n.151+6434C>G)
c.338C>G (n.338C>G)
c.649C>G (p.His217Asp)
c.3115C>G (p.His1039Asp)
c.656-1096C>G (n.656-1096C>G)
c.3046C>G (p.His1016Asp)
c.3109C>G (p.His1037Asp)
c.3097C>G (p.His1033Asp)
2g.144389978G=CA1294881406ZEB2c.*2967C= (n.*2967C=)
c.2341C= (p.His781=)
c.3118C= (p.His1040=)
n.3087C=
c.2782C= (p.His928=)
c.3193C= (p.His1065=)
c.*2835C= (n.*2835C=)
n.3218C=
c.151+6434C= (n.151+6434C=)
c.338C= (n.338C=)
c.649C= (p.His217=)
c.3115C= (p.His1039=)
c.656-1096C= (n.656-1096C=)
c.3046C= (p.His1016=)
c.3109C= (p.His1037=)
c.3097C= (p.His1033=)
2g.144389978G>TCA348701253ZEB2c.*2967C>A (n.*2967C>A)
c.2341C>A (p.His781Asn)
c.3118C>A (p.His1040Asn)
n.3087C>A
c.2782C>A (p.His928Asn)
c.3193C>A (p.His1065Asn)
c.*2835C>A (n.*2835C>A)
n.3218C>A
c.151+6434C>A (n.151+6434C>A)
c.338C>A (n.338C>A)
c.649C>A (p.His217Asn)
c.3115C>A (p.His1039Asn)
c.656-1096C>A (n.656-1096C>A)
c.3046C>A (p.His1016Asn)
c.3109C>A (p.His1037Asn)
c.3097C>A (p.His1033Asn)
 gnomAD v4
2g.144389979C>ACA348701263ZEB2c.*2966G>T (n.*2966G>T)
c.2340G>T (p.Lys780Asn)
c.3117G>T (p.Lys1039Asn)
n.3086G>T
c.2781G>T (p.Lys927Asn)
c.3192G>T (p.Lys1064Asn)
c.*2834G>T (n.*2834G>T)
n.3217G>T
c.151+6433G>T (n.151+6433G>T)
c.337G>T (n.337G>T)
c.648G>T (p.Lys216Asn)
c.3114G>T (p.Lys1038Asn)
c.656-1097G>T (n.656-1097G>T)
c.3045G>T (p.Lys1015Asn)
c.3108G>T (p.Lys1036Asn)
c.3096G>T (p.Lys1032Asn)
 COSMIC
2g.144389979C>GCA348701277ZEB2c.*2966G>C (n.*2966G>C)
c.2340G>C (p.Lys780Asn)
c.3117G>C (p.Lys1039Asn)
n.3086G>C
c.2781G>C (p.Lys927Asn)
c.3192G>C (p.Lys1064Asn)
c.*2834G>C (n.*2834G>C)
n.3217G>C
c.151+6433G>C (n.151+6433G>C)
c.337G>C (n.337G>C)
c.648G>C (p.Lys216Asn)
c.3114G>C (p.Lys1038Asn)
c.656-1097G>C (n.656-1097G>C)
c.3045G>C (p.Lys1015Asn)
c.3108G>C (p.Lys1036Asn)
c.3096G>C (p.Lys1032Asn)
2g.144389979C>TCA429445559ZEB2c.*2966G>A (n.*2966G>A)
c.2340G>A (p.Lys780=)
c.3117G>A (p.Lys1039=)
n.3086G>A
c.2781G>A (p.Lys927=)
c.3192G>A (p.Lys1064=)
c.*2834G>A (n.*2834G>A)
n.3217G>A
c.151+6433G>A (n.151+6433G>A)
c.337G>A (n.337G>A)
c.648G>A (p.Lys216=)
c.3114G>A (p.Lys1038=)
c.656-1097G>A (n.656-1097G>A)
c.3045G>A (p.Lys1015=)
c.3108G>A (p.Lys1036=)
c.3096G>A (p.Lys1032=)
 gnomAD v4
2g.144389980T>ACA348701293ZEB2c.*2965A>T (n.*2965A>T)
c.2339A>T (p.Lys780Met)
c.3116A>T (p.Lys1039Met)
n.3085A>T
c.2780A>T (p.Lys927Met)
c.3191A>T (p.Lys1064Met)
c.*2833A>T (n.*2833A>T)
n.3216A>T
c.151+6432A>T (n.151+6432A>T)
c.336A>T (n.336A>T)
c.647A>T (p.Lys216Met)
c.3113A>T (p.Lys1038Met)
c.656-1098A>T (n.656-1098A>T)
c.3044A>T (p.Lys1015Met)
c.3107A>T (p.Lys1036Met)
c.3095A>T (p.Lys1032Met)
2g.144389980T>CCA348701306ZEB2c.*2965A>G (n.*2965A>G)
c.2339A>G (p.Lys780Arg)
c.3116A>G (p.Lys1039Arg)
n.3085A>G
c.2780A>G (p.Lys927Arg)
c.3191A>G (p.Lys1064Arg)
c.*2833A>G (n.*2833A>G)
n.3216A>G
c.151+6432A>G (n.151+6432A>G)
c.336A>G (n.336A>G)
c.647A>G (p.Lys216Arg)
c.3113A>G (p.Lys1038Arg)
c.656-1098A>G (n.656-1098A>G)
c.3044A>G (p.Lys1015Arg)
c.3107A>G (p.Lys1036Arg)
c.3095A>G (p.Lys1032Arg)
2g.144389980T>GCA348701312ZEB2c.*2965A>C (n.*2965A>C)
c.2339A>C (p.Lys780Thr)
c.3116A>C (p.Lys1039Thr)
n.3085A>C
c.2780A>C (p.Lys927Thr)
c.3191A>C (p.Lys1064Thr)
c.*2833A>C (n.*2833A>C)
n.3216A>C
c.151+6432A>C (n.151+6432A>C)
c.336A>C (n.336A>C)
c.647A>C (p.Lys216Thr)
c.3113A>C (p.Lys1038Thr)
c.656-1098A>C (n.656-1098A>C)
c.3044A>C (p.Lys1015Thr)
c.3107A>C (p.Lys1036Thr)
c.3095A>C (p.Lys1032Thr)
2g.144389981T>ACA348701317ZEB2c.*2964A>T (n.*2964A>T)
c.2338A>T (p.Lys780Ter)
c.3115A>T (p.Lys1039Ter)
n.3084A>T
c.2779A>T (p.Lys927Ter)
c.3190A>T (p.Lys1064Ter)
c.*2832A>T (n.*2832A>T)
n.3215A>T
c.151+6431A>T (n.151+6431A>T)
c.335A>T (n.335A>T)
c.646A>T (p.Lys216Ter)
c.3112A>T (p.Lys1038Ter)
c.656-1099A>T (n.656-1099A>T)
c.3043A>T (p.Lys1015Ter)
c.3106A>T (p.Lys1036Ter)
c.3094A>T (p.Lys1032Ter)
2g.144389981T>CCA348701319ZEB2c.*2964A>G (n.*2964A>G)
c.2338A>G (p.Lys780Glu)
c.3115A>G (p.Lys1039Glu)
n.3084A>G
c.2779A>G (p.Lys927Glu)
c.3190A>G (p.Lys1064Glu)
c.*2832A>G (n.*2832A>G)
n.3215A>G
c.151+6431A>G (n.151+6431A>G)
c.335A>G (n.335A>G)
c.646A>G (p.Lys216Glu)
c.3112A>G (p.Lys1038Glu)
c.656-1099A>G (n.656-1099A>G)
c.3043A>G (p.Lys1015Glu)
c.3106A>G (p.Lys1036Glu)
c.3094A>G (p.Lys1032Glu)
2g.144389981T>GCA348701320ZEB2c.*2964A>C (n.*2964A>C)
c.2338A>C (p.Lys780Gln)
c.3115A>C (p.Lys1039Gln)
n.3084A>C
c.2779A>C (p.Lys927Gln)
c.3190A>C (p.Lys1064Gln)
c.*2832A>C (n.*2832A>C)
n.3215A>C
c.151+6431A>C (n.151+6431A>C)
c.335A>C (n.335A>C)
c.646A>C (p.Lys216Gln)
c.3112A>C (p.Lys1038Gln)
c.656-1099A>C (n.656-1099A>C)
c.3043A>C (p.Lys1015Gln)
c.3106A>C (p.Lys1036Gln)
c.3094A>C (p.Lys1032Gln)
2g.144389982delCA2842676108ZEB2c.*2963del (n.*2963del)
c.2337del (p.His779GlnfsTer?)
c.3114del (p.His1038GlnfsTer?)
n.3083del
c.2778del (p.His926GlnfsTer?)
c.3189del (p.His1063GlnfsTer?)
c.*2831del (n.*2831del)
n.3214del
c.151+6430del (n.151+6430del)
c.334del (n.334del)
c.645del (p.His215GlnfsTer?)
c.3111del (p.His1037GlnfsTer?)
c.656-1100del (n.656-1100del)
c.3042del (p.His1014GlnfsTer?)
c.3105del (p.His1035GlnfsTer?)
c.3093del (p.His1031GlnfsTer?)
2g.144389982G>ACA429445562ZEB2c.*2963C>T (n.*2963C>T)
c.2337C>T (p.His779=)
c.3114C>T (p.His1038=)
n.3083C>T
c.2778C>T (p.His926=)
c.3189C>T (p.His1063=)
c.*2831C>T (n.*2831C>T)
n.3214C>T
c.151+6430C>T (n.151+6430C>T)
c.334C>T (n.334C>T)
c.645C>T (p.His215=)
c.3111C>T (p.His1037=)
c.656-1100C>T (n.656-1100C>T)
c.3042C>T (p.His1014=)
c.3105C>T (p.His1035=)
c.3093C>T (p.His1031=)
 gnomAD v4
2g.144389982G>CCA348701321ZEB2c.*2963C>G (n.*2963C>G)
c.2337C>G (p.His779Gln)
c.3114C>G (p.His1038Gln)
n.3083C>G
c.2778C>G (p.His926Gln)
c.3189C>G (p.His1063Gln)
c.*2831C>G (n.*2831C>G)
n.3214C>G
c.151+6430C>G (n.151+6430C>G)
c.334C>G (n.334C>G)
c.645C>G (p.His215Gln)
c.3111C>G (p.His1037Gln)
c.656-1100C>G (n.656-1100C>G)
c.3042C>G (p.His1014Gln)
c.3105C>G (p.His1035Gln)
c.3093C>G (p.His1031Gln)
 ClinVar dbSNP
2g.144389982G=CA1294881407ZEB2c.*2963C= (n.*2963C=)
c.2337C= (p.His779=)
c.3114C= (p.His1038=)
n.3083C=
c.2778C= (p.His926=)
c.3189C= (p.His1063=)
c.*2831C= (n.*2831C=)
n.3214C=
c.151+6430C= (n.151+6430C=)
c.334C= (n.334C=)
c.645C= (p.His215=)
c.3111C= (p.His1037=)
c.656-1100C= (n.656-1100C=)
c.3042C= (p.His1014=)
c.3105C= (p.His1035=)
c.3093C= (p.His1031=)
2g.144389982G>TCA348701322ZEB2c.*2963C>A (n.*2963C>A)
c.2337C>A (p.His779Gln)
c.3114C>A (p.His1038Gln)
n.3083C>A
c.2778C>A (p.His926Gln)
c.3189C>A (p.His1063Gln)
c.*2831C>A (n.*2831C>A)
n.3214C>A
c.151+6430C>A (n.151+6430C>A)
c.334C>A (n.334C>A)
c.645C>A (p.His215Gln)
c.3111C>A (p.His1037Gln)
c.656-1100C>A (n.656-1100C>A)
c.3042C>A (p.His1014Gln)
c.3105C>A (p.His1035Gln)
c.3093C>A (p.His1031Gln)
 gnomAD v4
2g.144389983T>ACA348701331ZEB2c.*2962A>T (n.*2962A>T)
c.2336A>T (p.His779Leu)
c.3113A>T (p.His1038Leu)
n.3082A>T
c.2777A>T (p.His926Leu)
c.3188A>T (p.His1063Leu)
c.*2830A>T (n.*2830A>T)
n.3213A>T
c.151+6429A>T (n.151+6429A>T)
c.333A>T (n.333A>T)
c.644A>T (p.His215Leu)
c.3110A>T (p.His1037Leu)
c.656-1101A>T (n.656-1101A>T)
c.3041A>T (p.His1014Leu)
c.3104A>T (p.His1035Leu)
c.3092A>T (p.His1031Leu)
2g.144389983T>CCA348701328ZEB2c.*2962A>G (n.*2962A>G)
c.2336A>G (p.His779Arg)
c.3113A>G (p.His1038Arg)
n.3082A>G
c.2777A>G (p.His926Arg)
c.3188A>G (p.His1063Arg)
c.*2830A>G (n.*2830A>G)
n.3213A>G
c.151+6429A>G (n.151+6429A>G)
c.333A>G (n.333A>G)
c.644A>G (p.His215Arg)
c.3110A>G (p.His1037Arg)
c.656-1101A>G (n.656-1101A>G)
c.3041A>G (p.His1014Arg)
c.3104A>G (p.His1035Arg)
c.3092A>G (p.His1031Arg)
 COSMIC
2g.144389983T>GCA348701326ZEB2c.*2962A>C (n.*2962A>C)
c.2336A>C (p.His779Pro)
c.3113A>C (p.His1038Pro)
n.3082A>C
c.2777A>C (p.His926Pro)
c.3188A>C (p.His1063Pro)
c.*2830A>C (n.*2830A>C)
n.3213A>C
c.151+6429A>C (n.151+6429A>C)
c.333A>C (n.333A>C)
c.644A>C (p.His215Pro)
c.3110A>C (p.His1037Pro)
c.656-1101A>C (n.656-1101A>C)
c.3041A>C (p.His1014Pro)
c.3104A>C (p.His1035Pro)
c.3092A>C (p.His1031Pro)

Number of alleles fetched