Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389599delCA297644ZEB2c.*3348del (n.*3348del)
c.2722del (p.Ser908ValfsTer?)
c.3499del (p.Ser1167ValfsTer?)
c.3387del (p.Val1130Ter)
n.3468del
c.3163del (p.Ser1055ValfsTer?)
c.3574del (p.Ser1192ValfsTer?)
c.*3216del (n.*3216del)
n.3599del
c.151+6815del (n.151+6815del)
c.719del (n.719del)
c.1030del (p.Ser344ValfsTer?)
c.3496del (p.Ser1166ValfsTer?)
c.656-715del (n.656-715del)
c.3427del (p.Ser1143ValfsTer?)
c.3490del (p.Ser1164ValfsTer?)
c.3478del (p.Ser1160ValfsTer?)
 ClinVar dbSNP
2g.144389599T>ACA348699161ZEB2c.*3346A>T (n.*3346A>T)
c.2720A>T (p.Glu907Val)
c.3497A>T (p.Glu1166Val)
c.3385A>T (p.Lys1129Ter)
n.3466A>T
c.3161A>T (p.Glu1054Val)
c.3572A>T (p.Glu1191Val)
c.*3214A>T (n.*3214A>T)
n.3597A>T
c.151+6813A>T (n.151+6813A>T)
c.717A>T (n.717A>T)
c.1028A>T (p.Glu343Val)
c.3494A>T (p.Glu1165Val)
c.656-717A>T (n.656-717A>T)
c.3425A>T (p.Glu1142Val)
c.3488A>T (p.Glu1163Val)
c.3476A>T (p.Glu1159Val)
2g.144389599T>CCA348699162ZEB2c.*3346A>G (n.*3346A>G)
c.2720A>G (p.Glu907Gly)
c.3497A>G (p.Glu1166Gly)
c.3385A>G (p.Lys1129Glu)
n.3466A>G
c.3161A>G (p.Glu1054Gly)
c.3572A>G (p.Glu1191Gly)
c.*3214A>G (n.*3214A>G)
n.3597A>G
c.151+6813A>G (n.151+6813A>G)
c.717A>G (n.717A>G)
c.1028A>G (p.Glu343Gly)
c.3494A>G (p.Glu1165Gly)
c.656-717A>G (n.656-717A>G)
c.3425A>G (p.Glu1142Gly)
c.3488A>G (p.Glu1163Gly)
c.3476A>G (p.Glu1159Gly)
 gnomAD v4
2g.144389599T>GCA348699163ZEB2c.*3346A>C (n.*3346A>C)
c.2720A>C (p.Glu907Ala)
c.3497A>C (p.Glu1166Ala)
c.3385A>C (p.Lys1129Gln)
n.3466A>C
c.3161A>C (p.Glu1054Ala)
c.3572A>C (p.Glu1191Ala)
c.*3214A>C (n.*3214A>C)
n.3597A>C
c.151+6813A>C (n.151+6813A>C)
c.717A>C (n.717A>C)
c.1028A>C (p.Glu343Ala)
c.3494A>C (p.Glu1165Ala)
c.656-717A>C (n.656-717A>C)
c.3425A>C (p.Glu1142Ala)
c.3488A>C (p.Glu1163Ala)
c.3476A>C (p.Glu1159Ala)
2g.144389600C>ACA348699165ZEB2c.*3345G>T (n.*3345G>T)
c.2719G>T (p.Glu907Ter)
c.3496G>T (p.Glu1166Ter)
c.3384G>T (p.Lys1128Asn)
n.3465G>T
c.3160G>T (p.Glu1054Ter)
c.3571G>T (p.Glu1191Ter)
c.*3213G>T (n.*3213G>T)
n.3596G>T
c.151+6812G>T (n.151+6812G>T)
c.716G>T (n.716G>T)
c.1027G>T (p.Glu343Ter)
c.3493G>T (p.Glu1165Ter)
c.656-718G>T (n.656-718G>T)
c.3424G>T (p.Glu1142Ter)
c.3487G>T (p.Glu1163Ter)
c.3475G>T (p.Glu1159Ter)
2g.144389600C>GCA348699166ZEB2c.*3345G>C (n.*3345G>C)
c.2719G>C (p.Glu907Gln)
c.3496G>C (p.Glu1166Gln)
c.3384G>C (p.Lys1128Asn)
n.3465G>C
c.3160G>C (p.Glu1054Gln)
c.3571G>C (p.Glu1191Gln)
c.*3213G>C (n.*3213G>C)
n.3596G>C
c.151+6812G>C (n.151+6812G>C)
c.716G>C (n.716G>C)
c.1027G>C (p.Glu343Gln)
c.3493G>C (p.Glu1165Gln)
c.656-718G>C (n.656-718G>C)
c.3424G>C (p.Glu1142Gln)
c.3487G>C (p.Glu1163Gln)
c.3475G>C (p.Glu1159Gln)
2g.144389600C>TCA348699164ZEB2c.*3345G>A (n.*3345G>A)
c.2719G>A (p.Glu907Lys)
c.3496G>A (p.Glu1166Lys)
c.3384G>A (p.Lys1128=)
n.3465G>A
c.3160G>A (p.Glu1054Lys)
c.3571G>A (p.Glu1191Lys)
c.*3213G>A (n.*3213G>A)
n.3596G>A
c.151+6812G>A (n.151+6812G>A)
c.716G>A (n.716G>A)
c.1027G>A (p.Glu343Lys)
c.3493G>A (p.Glu1165Lys)
c.656-718G>A (n.656-718G>A)
c.3424G>A (p.Glu1142Lys)
c.3487G>A (p.Glu1163Lys)
c.3475G>A (p.Glu1159Lys)
2g.144389601T>ACA348699168ZEB2c.*3344A>T (n.*3344A>T)
c.2718A>T (p.Glu906Asp)
c.3495A>T (p.Glu1165Asp)
c.3383A>T (p.Lys1128Met)
n.3464A>T
c.3159A>T (p.Glu1053Asp)
c.3570A>T (p.Glu1190Asp)
c.*3212A>T (n.*3212A>T)
n.3595A>T
c.151+6811A>T (n.151+6811A>T)
c.715A>T (n.715A>T)
c.1026A>T (p.Glu342Asp)
c.3492A>T (p.Glu1164Asp)
c.656-719A>T (n.656-719A>T)
c.3423A>T (p.Glu1141Asp)
c.3486A>T (p.Glu1162Asp)
c.3474A>T (p.Glu1158Asp)
 dbSNP
2g.144389601T>CCA57549300ZEB2c.*3344A>G (n.*3344A>G)
c.2718A>G (p.Glu906=)
c.3495A>G (p.Glu1165=)
c.3383A>G (p.Lys1128Arg)
n.3464A>G
c.3159A>G (p.Glu1053=)
c.3570A>G (p.Glu1190=)
c.*3212A>G (n.*3212A>G)
n.3595A>G
c.151+6811A>G (n.151+6811A>G)
c.715A>G (n.715A>G)
c.1026A>G (p.Glu342=)
c.3492A>G (p.Glu1164=)
c.656-719A>G (n.656-719A>G)
c.3423A>G (p.Glu1141=)
c.3486A>G (p.Glu1162=)
c.3474A>G (p.Glu1158=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389601T>GCA348699167ZEB2c.*3344A>C (n.*3344A>C)
c.2718A>C (p.Glu906Asp)
c.3495A>C (p.Glu1165Asp)
c.3383A>C (p.Lys1128Thr)
n.3464A>C
c.3159A>C (p.Glu1053Asp)
c.3570A>C (p.Glu1190Asp)
c.*3212A>C (n.*3212A>C)
n.3595A>C
c.151+6811A>C (n.151+6811A>C)
c.715A>C (n.715A>C)
c.1026A>C (p.Glu342Asp)
c.3492A>C (p.Glu1164Asp)
c.656-719A>C (n.656-719A>C)
c.3423A>C (p.Glu1141Asp)
c.3486A>C (p.Glu1162Asp)
c.3474A>C (p.Glu1158Asp)
2g.144389601T=CA1294881264ZEB2c.*3344A= (n.*3344A=)
c.2718A= (p.Glu906=)
c.3495A= (p.Glu1165=)
c.3383A= (p.Lys1128=)
n.3464A=
c.3159A= (p.Glu1053=)
c.3570A= (p.Glu1190=)
c.*3212A= (n.*3212A=)
n.3595A=
c.151+6811A= (n.151+6811A=)
c.715A= (n.715A=)
c.1026A= (p.Glu342=)
c.3492A= (p.Glu1164=)
c.656-719A= (n.656-719A=)
c.3423A= (p.Glu1141=)
c.3486A= (p.Glu1162=)
c.3474A= (p.Glu1158=)
2g.144389602T>ACA348699169ZEB2c.*3343A>T (n.*3343A>T)
c.2717A>T (p.Glu906Val)
c.3494A>T (p.Glu1165Val)
c.3382A>T (p.Lys1128Ter)
n.3463A>T
c.3158A>T (p.Glu1053Val)
c.3569A>T (p.Glu1190Val)
c.*3211A>T (n.*3211A>T)
n.3594A>T
c.151+6810A>T (n.151+6810A>T)
c.714A>T (n.714A>T)
c.1025A>T (p.Glu342Val)
c.3491A>T (p.Glu1164Val)
c.656-720A>T (n.656-720A>T)
c.3422A>T (p.Glu1141Val)
c.3485A>T (p.Glu1162Val)
c.3473A>T (p.Glu1158Val)
2g.144389602T>CCA348699170ZEB2c.*3343A>G (n.*3343A>G)
c.2717A>G (p.Glu906Gly)
c.3494A>G (p.Glu1165Gly)
c.3382A>G (p.Lys1128Glu)
n.3463A>G
c.3158A>G (p.Glu1053Gly)
c.3569A>G (p.Glu1190Gly)
c.*3211A>G (n.*3211A>G)
n.3594A>G
c.151+6810A>G (n.151+6810A>G)
c.714A>G (n.714A>G)
c.1025A>G (p.Glu342Gly)
c.3491A>G (p.Glu1164Gly)
c.656-720A>G (n.656-720A>G)
c.3422A>G (p.Glu1141Gly)
c.3485A>G (p.Glu1162Gly)
c.3473A>G (p.Glu1158Gly)
2g.144389602T>GCA348699171ZEB2c.*3343A>C (n.*3343A>C)
c.2717A>C (p.Glu906Ala)
c.3494A>C (p.Glu1165Ala)
c.3382A>C (p.Lys1128Gln)
n.3463A>C
c.3158A>C (p.Glu1053Ala)
c.3569A>C (p.Glu1190Ala)
c.*3211A>C (n.*3211A>C)
n.3594A>C
c.151+6810A>C (n.151+6810A>C)
c.714A>C (n.714A>C)
c.1025A>C (p.Glu342Ala)
c.3491A>C (p.Glu1164Ala)
c.656-720A>C (n.656-720A>C)
c.3422A>C (p.Glu1141Ala)
c.3485A>C (p.Glu1162Ala)
c.3473A>C (p.Glu1158Ala)
2g.144389603C>ACA348699172ZEB2c.*3342G>T (n.*3342G>T)
c.2716G>T (p.Glu906Ter)
c.3493G>T (p.Glu1165Ter)
c.3381G>T (p.Arg1127Ser)
n.3462G>T
c.3157G>T (p.Glu1053Ter)
c.3568G>T (p.Glu1190Ter)
c.*3210G>T (n.*3210G>T)
n.3593G>T
c.151+6809G>T (n.151+6809G>T)
c.713G>T (n.713G>T)
c.1024G>T (p.Glu342Ter)
c.3490G>T (p.Glu1164Ter)
c.656-721G>T (n.656-721G>T)
c.3421G>T (p.Glu1141Ter)
c.3484G>T (p.Glu1162Ter)
c.3472G>T (p.Glu1158Ter)
2g.144389603C>GCA348699173ZEB2c.*3342G>C (n.*3342G>C)
c.2716G>C (p.Glu906Gln)
c.3493G>C (p.Glu1165Gln)
c.3381G>C (p.Arg1127Ser)
n.3462G>C
c.3157G>C (p.Glu1053Gln)
c.3568G>C (p.Glu1190Gln)
c.*3210G>C (n.*3210G>C)
n.3593G>C
c.151+6809G>C (n.151+6809G>C)
c.713G>C (n.713G>C)
c.1024G>C (p.Glu342Gln)
c.3490G>C (p.Glu1164Gln)
c.656-721G>C (n.656-721G>C)
c.3421G>C (p.Glu1141Gln)
c.3484G>C (p.Glu1162Gln)
c.3472G>C (p.Glu1158Gln)
2g.144389603C>TCA348699174ZEB2c.*3342G>A (n.*3342G>A)
c.2716G>A (p.Glu906Lys)
c.3493G>A (p.Glu1165Lys)
c.3381G>A (p.Arg1127=)
n.3462G>A
c.3157G>A (p.Glu1053Lys)
c.3568G>A (p.Glu1190Lys)
c.*3210G>A (n.*3210G>A)
n.3593G>A
c.151+6809G>A (n.151+6809G>A)
c.713G>A (n.713G>A)
c.1024G>A (p.Glu342Lys)
c.3490G>A (p.Glu1164Lys)
c.656-721G>A (n.656-721G>A)
c.3421G>A (p.Glu1141Lys)
c.3484G>A (p.Glu1162Lys)
c.3472G>A (p.Glu1158Lys)
2g.144389604C>ACA348699175ZEB2c.*3341G>T (n.*3341G>T)
c.2715G>T (p.Glu905Asp)
c.3492G>T (p.Glu1164Asp)
c.3380G>T (p.Arg1127Met)
n.3461G>T
c.3156G>T (p.Glu1052Asp)
c.3567G>T (p.Glu1189Asp)
c.*3209G>T (n.*3209G>T)
n.3592G>T
c.151+6808G>T (n.151+6808G>T)
c.712G>T (n.712G>T)
c.1023G>T (p.Glu341Asp)
c.3489G>T (p.Glu1163Asp)
c.656-722G>T (n.656-722G>T)
c.3420G>T (p.Glu1140Asp)
c.3483G>T (p.Glu1161Asp)
c.3471G>T (p.Glu1157Asp)
 gnomAD v4 COSMIC
2g.144389604C>GCA348699176ZEB2c.*3341G>C (n.*3341G>C)
c.2715G>C (p.Glu905Asp)
c.3492G>C (p.Glu1164Asp)
c.3380G>C (p.Arg1127Thr)
n.3461G>C
c.3156G>C (p.Glu1052Asp)
c.3567G>C (p.Glu1189Asp)
c.*3209G>C (n.*3209G>C)
n.3592G>C
c.151+6808G>C (n.151+6808G>C)
c.712G>C (n.712G>C)
c.1023G>C (p.Glu341Asp)
c.3489G>C (p.Glu1163Asp)
c.656-722G>C (n.656-722G>C)
c.3420G>C (p.Glu1140Asp)
c.3483G>C (p.Glu1161Asp)
c.3471G>C (p.Glu1157Asp)
 ClinVar dbSNP
2g.144389604C>TCA429441098ZEB2c.*3341G>A (n.*3341G>A)
c.2715G>A (p.Glu905=)
c.3492G>A (p.Glu1164=)
c.3380G>A (p.Arg1127Lys)
n.3461G>A
c.3156G>A (p.Glu1052=)
c.3567G>A (p.Glu1189=)
c.*3209G>A (n.*3209G>A)
n.3592G>A
c.151+6808G>A (n.151+6808G>A)
c.712G>A (n.712G>A)
c.1023G>A (p.Glu341=)
c.3489G>A (p.Glu1163=)
c.656-722G>A (n.656-722G>A)
c.3420G>A (p.Glu1140=)
c.3483G>A (p.Glu1161=)
c.3471G>A (p.Glu1157=)
 dbSNP gnomAD v4
2g.144389605T>ACA348699177ZEB2c.*3340A>T (n.*3340A>T)
c.2714A>T (p.Glu905Val)
c.3491A>T (p.Glu1164Val)
c.3379A>T (p.Arg1127Trp)
n.3460A>T
c.3155A>T (p.Glu1052Val)
c.3566A>T (p.Glu1189Val)
c.*3208A>T (n.*3208A>T)
n.3591A>T
c.151+6807A>T (n.151+6807A>T)
c.711A>T (n.711A>T)
c.1022A>T (p.Glu341Val)
c.3488A>T (p.Glu1163Val)
c.656-723A>T (n.656-723A>T)
c.3419A>T (p.Glu1140Val)
c.3482A>T (p.Glu1161Val)
c.3470A>T (p.Glu1157Val)
2g.144389605T>CCA348699178ZEB2c.*3340A>G (n.*3340A>G)
c.2714A>G (p.Glu905Gly)
c.3491A>G (p.Glu1164Gly)
c.3379A>G (p.Arg1127Gly)
n.3460A>G
c.3155A>G (p.Glu1052Gly)
c.3566A>G (p.Glu1189Gly)
c.*3208A>G (n.*3208A>G)
n.3591A>G
c.151+6807A>G (n.151+6807A>G)
c.711A>G (n.711A>G)
c.1022A>G (p.Glu341Gly)
c.3488A>G (p.Glu1163Gly)
c.656-723A>G (n.656-723A>G)
c.3419A>G (p.Glu1140Gly)
c.3482A>G (p.Glu1161Gly)
c.3470A>G (p.Glu1157Gly)
2g.144389605T>GCA348699179ZEB2c.*3340A>C (n.*3340A>C)
c.2714A>C (p.Glu905Ala)
c.3491A>C (p.Glu1164Ala)
c.3379A>C (p.Arg1127=)
n.3460A>C
c.3155A>C (p.Glu1052Ala)
c.3566A>C (p.Glu1189Ala)
c.*3208A>C (n.*3208A>C)
n.3591A>C
c.151+6807A>C (n.151+6807A>C)
c.711A>C (n.711A>C)
c.1022A>C (p.Glu341Ala)
c.3488A>C (p.Glu1163Ala)
c.656-723A>C (n.656-723A>C)
c.3419A>C (p.Glu1140Ala)
c.3482A>C (p.Glu1161Ala)
c.3470A>C (p.Glu1157Ala)
2g.144389606C>ACA348699182ZEB2c.*3339G>T (n.*3339G>T)
c.2713G>T (p.Glu905Ter)
c.3490G>T (p.Glu1164Ter)
c.3378G>T (p.Lys1126Asn)
n.3459G>T
c.3154G>T (p.Glu1052Ter)
c.3565G>T (p.Glu1189Ter)
c.*3207G>T (n.*3207G>T)
n.3590G>T
c.151+6806G>T (n.151+6806G>T)
c.710G>T (n.710G>T)
c.1021G>T (p.Glu341Ter)
c.3487G>T (p.Glu1163Ter)
c.656-724G>T (n.656-724G>T)
c.3418G>T (p.Glu1140Ter)
c.3481G>T (p.Glu1161Ter)
c.3469G>T (p.Glu1157Ter)
2g.144389606C>GCA348699181ZEB2c.*3339G>C (n.*3339G>C)
c.2713G>C (p.Glu905Gln)
c.3490G>C (p.Glu1164Gln)
c.3378G>C (p.Lys1126Asn)
n.3459G>C
c.3154G>C (p.Glu1052Gln)
c.3565G>C (p.Glu1189Gln)
c.*3207G>C (n.*3207G>C)
n.3590G>C
c.151+6806G>C (n.151+6806G>C)
c.710G>C (n.710G>C)
c.1021G>C (p.Glu341Gln)
c.3487G>C (p.Glu1163Gln)
c.656-724G>C (n.656-724G>C)
c.3418G>C (p.Glu1140Gln)
c.3481G>C (p.Glu1161Gln)
c.3469G>C (p.Glu1157Gln)
2g.144389606C>TCA348699180ZEB2c.*3339G>A (n.*3339G>A)
c.2713G>A (p.Glu905Lys)
c.3490G>A (p.Glu1164Lys)
c.3378G>A (p.Lys1126=)
n.3459G>A
c.3154G>A (p.Glu1052Lys)
c.3565G>A (p.Glu1189Lys)
c.*3207G>A (n.*3207G>A)
n.3590G>A
c.151+6806G>A (n.151+6806G>A)
c.710G>A (n.710G>A)
c.1021G>A (p.Glu341Lys)
c.3487G>A (p.Glu1163Lys)
c.656-724G>A (n.656-724G>A)
c.3418G>A (p.Glu1140Lys)
c.3481G>A (p.Glu1161Lys)
c.3469G>A (p.Glu1157Lys)
2g.144389607T>ACA348699183ZEB2c.*3338A>T (n.*3338A>T)
c.2712A>T (p.Glu904Asp)
c.3489A>T (p.Glu1163Asp)
c.3377A>T (p.Lys1126Met)
n.3458A>T
c.3153A>T (p.Glu1051Asp)
c.3564A>T (p.Glu1188Asp)
c.*3206A>T (n.*3206A>T)
n.3589A>T
c.151+6805A>T (n.151+6805A>T)
c.709A>T (n.709A>T)
c.1020A>T (p.Glu340Asp)
c.3486A>T (p.Glu1162Asp)
c.656-725A>T (n.656-725A>T)
c.3417A>T (p.Glu1139Asp)
c.3480A>T (p.Glu1160Asp)
c.3468A>T (p.Glu1156Asp)
2g.144389607T>CCA429441099ZEB2c.*3338A>G (n.*3338A>G)
c.2712A>G (p.Glu904=)
c.3489A>G (p.Glu1163=)
c.3377A>G (p.Lys1126Arg)
n.3458A>G
c.3153A>G (p.Glu1051=)
c.3564A>G (p.Glu1188=)
c.*3206A>G (n.*3206A>G)
n.3589A>G
c.151+6805A>G (n.151+6805A>G)
c.709A>G (n.709A>G)
c.1020A>G (p.Glu340=)
c.3486A>G (p.Glu1162=)
c.656-725A>G (n.656-725A>G)
c.3417A>G (p.Glu1139=)
c.3480A>G (p.Glu1160=)
c.3468A>G (p.Glu1156=)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144389607T>GCA348699184ZEB2c.*3338A>C (n.*3338A>C)
c.2712A>C (p.Glu904Asp)
c.3489A>C (p.Glu1163Asp)
c.3377A>C (p.Lys1126Thr)
n.3458A>C
c.3153A>C (p.Glu1051Asp)
c.3564A>C (p.Glu1188Asp)
c.*3206A>C (n.*3206A>C)
n.3589A>C
c.151+6805A>C (n.151+6805A>C)
c.709A>C (n.709A>C)
c.1020A>C (p.Glu340Asp)
c.3486A>C (p.Glu1162Asp)
c.656-725A>C (n.656-725A>C)
c.3417A>C (p.Glu1139Asp)
c.3480A>C (p.Glu1160Asp)
c.3468A>C (p.Glu1156Asp)
2g.144389607T=CA1294881265ZEB2c.*3338A= (n.*3338A=)
c.2712A= (p.Glu904=)
c.3489A= (p.Glu1163=)
c.3377A= (p.Lys1126=)
n.3458A=
c.3153A= (p.Glu1051=)
c.3564A= (p.Glu1188=)
c.*3206A= (n.*3206A=)
n.3589A=
c.151+6805A= (n.151+6805A=)
c.709A= (n.709A=)
c.1020A= (p.Glu340=)
c.3486A= (p.Glu1162=)
c.656-725A= (n.656-725A=)
c.3417A= (p.Glu1139=)
c.3480A= (p.Glu1160=)
c.3468A= (p.Glu1156=)
2g.144389608delCA2586969976ZEB2c.*3338del (n.*3338del)
c.2712del (p.Glu905ArgfsTer?)
c.3489del (p.Glu1164ArgfsTer?)
c.3377del (p.Lys1126ArgfsTer5)
n.3458del
c.3153del (p.Glu1052ArgfsTer?)
c.3564del (p.Glu1189ArgfsTer?)
c.*3206del (n.*3206del)
n.3589del
c.151+6805del (n.151+6805del)
c.709del (n.709del)
c.1020del (p.Glu341ArgfsTer?)
c.3486del (p.Glu1163ArgfsTer?)
c.656-725del (n.656-725del)
c.3417del (p.Glu1140ArgfsTer?)
c.3480del (p.Glu1161ArgfsTer?)
c.3468del (p.Glu1157ArgfsTer?)
2g.144389608T>ACA348699185ZEB2c.*3337A>T (n.*3337A>T)
c.2711A>T (p.Glu904Val)
c.3488A>T (p.Glu1163Val)
c.3376A>T (p.Lys1126Ter)
n.3457A>T
c.3152A>T (p.Glu1051Val)
c.3563A>T (p.Glu1188Val)
c.*3205A>T (n.*3205A>T)
n.3588A>T
c.151+6804A>T (n.151+6804A>T)
c.708A>T (n.708A>T)
c.1019A>T (p.Glu340Val)
c.3485A>T (p.Glu1162Val)
c.656-726A>T (n.656-726A>T)
c.3416A>T (p.Glu1139Val)
c.3479A>T (p.Glu1160Val)
c.3467A>T (p.Glu1156Val)
2g.144389608T>CCA348699186ZEB2c.*3337A>G (n.*3337A>G)
c.2711A>G (p.Glu904Gly)
c.3488A>G (p.Glu1163Gly)
c.3376A>G (p.Lys1126Glu)
n.3457A>G
c.3152A>G (p.Glu1051Gly)
c.3563A>G (p.Glu1188Gly)
c.*3205A>G (n.*3205A>G)
n.3588A>G
c.151+6804A>G (n.151+6804A>G)
c.708A>G (n.708A>G)
c.1019A>G (p.Glu340Gly)
c.3485A>G (p.Glu1162Gly)
c.656-726A>G (n.656-726A>G)
c.3416A>G (p.Glu1139Gly)
c.3479A>G (p.Glu1160Gly)
c.3467A>G (p.Glu1156Gly)
2g.144389608T>GCA348699187ZEB2c.*3337A>C (n.*3337A>C)
c.2711A>C (p.Glu904Ala)
c.3488A>C (p.Glu1163Ala)
c.3376A>C (p.Lys1126Gln)
n.3457A>C
c.3152A>C (p.Glu1051Ala)
c.3563A>C (p.Glu1188Ala)
c.*3205A>C (n.*3205A>C)
n.3588A>C
c.151+6804A>C (n.151+6804A>C)
c.708A>C (n.708A>C)
c.1019A>C (p.Glu340Ala)
c.3485A>C (p.Glu1162Ala)
c.656-726A>C (n.656-726A>C)
c.3416A>C (p.Glu1139Ala)
c.3479A>C (p.Glu1160Ala)
c.3467A>C (p.Glu1156Ala)
2g.144389609C>ACA348699188ZEB2c.*3336G>T (n.*3336G>T)
c.2710G>T (p.Glu904Ter)
c.3487G>T (p.Glu1163Ter)
c.3375G>T (p.Arg1125Ser)
n.3456G>T
c.3151G>T (p.Glu1051Ter)
c.3562G>T (p.Glu1188Ter)
c.*3204G>T (n.*3204G>T)
n.3587G>T
c.151+6803G>T (n.151+6803G>T)
c.707G>T (n.707G>T)
c.1018G>T (p.Glu340Ter)
c.3484G>T (p.Glu1162Ter)
c.656-727G>T (n.656-727G>T)
c.3415G>T (p.Glu1139Ter)
c.3478G>T (p.Glu1160Ter)
c.3466G>T (p.Glu1156Ter)
2g.144389609C=CA1294881266ZEB2c.*3336G= (n.*3336G=)
c.2710G= (p.Glu904=)
c.3487G= (p.Glu1163=)
c.3375G= (p.Arg1125=)
n.3456G=
c.3151G= (p.Glu1051=)
c.3562G= (p.Glu1188=)
c.*3204G= (n.*3204G=)
n.3587G=
c.151+6803G= (n.151+6803G=)
c.707G= (n.707G=)
c.1018G= (p.Glu340=)
c.3484G= (p.Glu1162=)
c.656-727G= (n.656-727G=)
c.3415G= (p.Glu1139=)
c.3478G= (p.Glu1160=)
c.3466G= (p.Glu1156=)
2g.144389609C>GCA348699189ZEB2c.*3336G>C (n.*3336G>C)
c.2710G>C (p.Glu904Gln)
c.3487G>C (p.Glu1163Gln)
c.3375G>C (p.Arg1125Ser)
n.3456G>C
c.3151G>C (p.Glu1051Gln)
c.3562G>C (p.Glu1188Gln)
c.*3204G>C (n.*3204G>C)
n.3587G>C
c.151+6803G>C (n.151+6803G>C)
c.707G>C (n.707G>C)
c.1018G>C (p.Glu340Gln)
c.3484G>C (p.Glu1162Gln)
c.656-727G>C (n.656-727G>C)
c.3415G>C (p.Glu1139Gln)
c.3478G>C (p.Glu1160Gln)
c.3466G>C (p.Glu1156Gln)
2g.144389609C>TCA1898109ZEB2c.*3336G>A (n.*3336G>A)
c.2710G>A (p.Glu904Lys)
c.3487G>A (p.Glu1163Lys)
c.3375G>A (p.Arg1125=)
n.3456G>A
c.3151G>A (p.Glu1051Lys)
c.3562G>A (p.Glu1188Lys)
c.*3204G>A (n.*3204G>A)
n.3587G>A
c.151+6803G>A (n.151+6803G>A)
c.707G>A (n.707G>A)
c.1018G>A (p.Glu340Lys)
c.3484G>A (p.Glu1162Lys)
c.656-727G>A (n.656-727G>A)
c.3415G>A (p.Glu1139Lys)
c.3478G>A (p.Glu1160Lys)
c.3466G>A (p.Glu1156Lys)
 dbSNP ExAC
2g.144389610C>ACA348699190ZEB2c.*3335G>T (n.*3335G>T)
c.2709G>T (p.Glu903Asp)
c.3486G>T (p.Glu1162Asp)
c.3374G>T (p.Arg1125Met)
n.3455G>T
c.3150G>T (p.Glu1050Asp)
c.3561G>T (p.Glu1187Asp)
c.*3203G>T (n.*3203G>T)
n.3586G>T
c.151+6802G>T (n.151+6802G>T)
c.706G>T (n.706G>T)
c.1017G>T (p.Glu339Asp)
c.3483G>T (p.Glu1161Asp)
c.656-728G>T (n.656-728G>T)
c.3414G>T (p.Glu1138Asp)
c.3477G>T (p.Glu1159Asp)
c.3465G>T (p.Glu1155Asp)
2g.144389610C>GCA348699191ZEB2c.*3335G>C (n.*3335G>C)
c.2709G>C (p.Glu903Asp)
c.3486G>C (p.Glu1162Asp)
c.3374G>C (p.Arg1125Thr)
n.3455G>C
c.3150G>C (p.Glu1050Asp)
c.3561G>C (p.Glu1187Asp)
c.*3203G>C (n.*3203G>C)
n.3586G>C
c.151+6802G>C (n.151+6802G>C)
c.706G>C (n.706G>C)
c.1017G>C (p.Glu339Asp)
c.3483G>C (p.Glu1161Asp)
c.656-728G>C (n.656-728G>C)
c.3414G>C (p.Glu1138Asp)
c.3477G>C (p.Glu1159Asp)
c.3465G>C (p.Glu1155Asp)
2g.144389610C>TCA429441100ZEB2c.*3335G>A (n.*3335G>A)
c.2709G>A (p.Glu903=)
c.3486G>A (p.Glu1162=)
c.3374G>A (p.Arg1125Lys)
n.3455G>A
c.3150G>A (p.Glu1050=)
c.3561G>A (p.Glu1187=)
c.*3203G>A (n.*3203G>A)
n.3586G>A
c.151+6802G>A (n.151+6802G>A)
c.706G>A (n.706G>A)
c.1017G>A (p.Glu339=)
c.3483G>A (p.Glu1161=)
c.656-728G>A (n.656-728G>A)
c.3414G>A (p.Glu1138=)
c.3477G>A (p.Glu1159=)
c.3465G>A (p.Glu1155=)
2g.144389611T>ACA348699192ZEB2c.*3334A>T (n.*3334A>T)
c.2708A>T (p.Glu903Val)
c.3485A>T (p.Glu1162Val)
c.3373A>T (p.Arg1125Trp)
n.3454A>T
c.3149A>T (p.Glu1050Val)
c.3560A>T (p.Glu1187Val)
c.*3202A>T (n.*3202A>T)
n.3585A>T
c.151+6801A>T (n.151+6801A>T)
c.705A>T (n.705A>T)
c.1016A>T (p.Glu339Val)
c.3482A>T (p.Glu1161Val)
c.656-729A>T (n.656-729A>T)
c.3413A>T (p.Glu1138Val)
c.3476A>T (p.Glu1159Val)
c.3464A>T (p.Glu1155Val)
2g.144389611T>CCA348699193ZEB2c.*3334A>G (n.*3334A>G)
c.2708A>G (p.Glu903Gly)
c.3485A>G (p.Glu1162Gly)
c.3373A>G (p.Arg1125Gly)
n.3454A>G
c.3149A>G (p.Glu1050Gly)
c.3560A>G (p.Glu1187Gly)
c.*3202A>G (n.*3202A>G)
n.3585A>G
c.151+6801A>G (n.151+6801A>G)
c.705A>G (n.705A>G)
c.1016A>G (p.Glu339Gly)
c.3482A>G (p.Glu1161Gly)
c.656-729A>G (n.656-729A>G)
c.3413A>G (p.Glu1138Gly)
c.3476A>G (p.Glu1159Gly)
c.3464A>G (p.Glu1155Gly)
2g.144389611T>GCA348699194ZEB2c.*3334A>C (n.*3334A>C)
c.2708A>C (p.Glu903Ala)
c.3485A>C (p.Glu1162Ala)
c.3373A>C (p.Arg1125=)
n.3454A>C
c.3149A>C (p.Glu1050Ala)
c.3560A>C (p.Glu1187Ala)
c.*3202A>C (n.*3202A>C)
n.3585A>C
c.151+6801A>C (n.151+6801A>C)
c.705A>C (n.705A>C)
c.1016A>C (p.Glu339Ala)
c.3482A>C (p.Glu1161Ala)
c.656-729A>C (n.656-729A>C)
c.3413A>C (p.Glu1138Ala)
c.3476A>C (p.Glu1159Ala)
c.3464A>C (p.Glu1155Ala)
2g.144389612C>ACA348699197ZEB2c.*3333G>T (n.*3333G>T)
c.2707G>T (p.Glu903Ter)
c.3484G>T (p.Glu1162Ter)
c.3372G>T (p.Arg1124Ser)
n.3453G>T
c.3148G>T (p.Glu1050Ter)
c.3559G>T (p.Glu1187Ter)
c.*3201G>T (n.*3201G>T)
n.3584G>T
c.151+6800G>T (n.151+6800G>T)
c.704G>T (n.704G>T)
c.1015G>T (p.Glu339Ter)
c.3481G>T (p.Glu1161Ter)
c.656-730G>T (n.656-730G>T)
c.3412G>T (p.Glu1138Ter)
c.3475G>T (p.Glu1159Ter)
c.3463G>T (p.Glu1155Ter)
2g.144389612C>GCA348699196ZEB2c.*3333G>C (n.*3333G>C)
c.2707G>C (p.Glu903Gln)
c.3484G>C (p.Glu1162Gln)
c.3372G>C (p.Arg1124Ser)
n.3453G>C
c.3148G>C (p.Glu1050Gln)
c.3559G>C (p.Glu1187Gln)
c.*3201G>C (n.*3201G>C)
n.3584G>C
c.151+6800G>C (n.151+6800G>C)
c.704G>C (n.704G>C)
c.1015G>C (p.Glu339Gln)
c.3481G>C (p.Glu1161Gln)
c.656-730G>C (n.656-730G>C)
c.3412G>C (p.Glu1138Gln)
c.3475G>C (p.Glu1159Gln)
c.3463G>C (p.Glu1155Gln)
2g.144389612C>TCA348699195ZEB2c.*3333G>A (n.*3333G>A)
c.2707G>A (p.Glu903Lys)
c.3484G>A (p.Glu1162Lys)
c.3372G>A (p.Arg1124=)
n.3453G>A
c.3148G>A (p.Glu1050Lys)
c.3559G>A (p.Glu1187Lys)
c.*3201G>A (n.*3201G>A)
n.3584G>A
c.151+6800G>A (n.151+6800G>A)
c.704G>A (n.704G>A)
c.1015G>A (p.Glu339Lys)
c.3481G>A (p.Glu1161Lys)
c.656-730G>A (n.656-730G>A)
c.3412G>A (p.Glu1138Lys)
c.3475G>A (p.Glu1159Lys)
c.3463G>A (p.Glu1155Lys)
2g.144389613C>ACA348699199ZEB2c.*3332G>T (n.*3332G>T)
c.2706G>T (p.Glu902Asp)
c.3483G>T (p.Glu1161Asp)
c.3371G>T (p.Arg1124Met)
n.3452G>T
c.3147G>T (p.Glu1049Asp)
c.3558G>T (p.Glu1186Asp)
c.*3200G>T (n.*3200G>T)
n.3583G>T
c.151+6799G>T (n.151+6799G>T)
c.703G>T (n.703G>T)
c.1014G>T (p.Glu338Asp)
c.3480G>T (p.Glu1160Asp)
c.656-731G>T (n.656-731G>T)
c.3411G>T (p.Glu1137Asp)
c.3474G>T (p.Glu1158Asp)
c.3462G>T (p.Glu1154Asp)
2g.144389613C>GCA348699198ZEB2c.*3332G>C (n.*3332G>C)
c.2706G>C (p.Glu902Asp)
c.3483G>C (p.Glu1161Asp)
c.3371G>C (p.Arg1124Thr)
n.3452G>C
c.3147G>C (p.Glu1049Asp)
c.3558G>C (p.Glu1186Asp)
c.*3200G>C (n.*3200G>C)
n.3583G>C
c.151+6799G>C (n.151+6799G>C)
c.703G>C (n.703G>C)
c.1014G>C (p.Glu338Asp)
c.3480G>C (p.Glu1160Asp)
c.656-731G>C (n.656-731G>C)
c.3411G>C (p.Glu1137Asp)
c.3474G>C (p.Glu1158Asp)
c.3462G>C (p.Glu1154Asp)
2g.144389613C>TCA429441102ZEB2c.*3332G>A (n.*3332G>A)
c.2706G>A (p.Glu902=)
c.3483G>A (p.Glu1161=)
c.3371G>A (p.Arg1124Lys)
n.3452G>A
c.3147G>A (p.Glu1049=)
c.3558G>A (p.Glu1186=)
c.*3200G>A (n.*3200G>A)
n.3583G>A
c.151+6799G>A (n.151+6799G>A)
c.703G>A (n.703G>A)
c.1014G>A (p.Glu338=)
c.3480G>A (p.Glu1160=)
c.656-731G>A (n.656-731G>A)
c.3411G>A (p.Glu1137=)
c.3474G>A (p.Glu1158=)
c.3462G>A (p.Glu1154=)
 gnomAD v4
2g.144389614T>ACA348699200ZEB2c.*3331A>T (n.*3331A>T)
c.2705A>T (p.Glu902Val)
c.3482A>T (p.Glu1161Val)
c.3370A>T (p.Arg1124Trp)
n.3451A>T
c.3146A>T (p.Glu1049Val)
c.3557A>T (p.Glu1186Val)
c.*3199A>T (n.*3199A>T)
n.3582A>T
c.151+6798A>T (n.151+6798A>T)
c.702A>T (n.702A>T)
c.1013A>T (p.Glu338Val)
c.3479A>T (p.Glu1160Val)
c.656-732A>T (n.656-732A>T)
c.3410A>T (p.Glu1137Val)
c.3473A>T (p.Glu1158Val)
c.3461A>T (p.Glu1154Val)
2g.144389614T>CCA348699201ZEB2c.*3331A>G (n.*3331A>G)
c.2705A>G (p.Glu902Gly)
c.3482A>G (p.Glu1161Gly)
c.3370A>G (p.Arg1124Gly)
n.3451A>G
c.3146A>G (p.Glu1049Gly)
c.3557A>G (p.Glu1186Gly)
c.*3199A>G (n.*3199A>G)
n.3582A>G
c.151+6798A>G (n.151+6798A>G)
c.702A>G (n.702A>G)
c.1013A>G (p.Glu338Gly)
c.3479A>G (p.Glu1160Gly)
c.656-732A>G (n.656-732A>G)
c.3410A>G (p.Glu1137Gly)
c.3473A>G (p.Glu1158Gly)
c.3461A>G (p.Glu1154Gly)
2g.144389614T>GCA348699202ZEB2c.*3331A>C (n.*3331A>C)
c.2705A>C (p.Glu902Ala)
c.3482A>C (p.Glu1161Ala)
c.3370A>C (p.Arg1124=)
n.3451A>C
c.3146A>C (p.Glu1049Ala)
c.3557A>C (p.Glu1186Ala)
c.*3199A>C (n.*3199A>C)
n.3582A>C
c.151+6798A>C (n.151+6798A>C)
c.702A>C (n.702A>C)
c.1013A>C (p.Glu338Ala)
c.3479A>C (p.Glu1160Ala)
c.656-732A>C (n.656-732A>C)
c.3410A>C (p.Glu1137Ala)
c.3473A>C (p.Glu1158Ala)
c.3461A>C (p.Glu1154Ala)
2g.144389615C>ACA348699203ZEB2c.*3330G>T (n.*3330G>T)
c.2704G>T (p.Glu902Ter)
c.3481G>T (p.Glu1161Ter)
c.3369G>T (p.Ser1123=)
n.3450G>T
c.3145G>T (p.Glu1049Ter)
c.3556G>T (p.Glu1186Ter)
c.*3198G>T (n.*3198G>T)
n.3581G>T
c.151+6797G>T (n.151+6797G>T)
c.701G>T (n.701G>T)
c.1012G>T (p.Glu338Ter)
c.3478G>T (p.Glu1160Ter)
c.656-733G>T (n.656-733G>T)
c.3409G>T (p.Glu1137Ter)
c.3472G>T (p.Glu1158Ter)
c.3460G>T (p.Glu1154Ter)
2g.144389615C>GCA348699204ZEB2c.*3330G>C (n.*3330G>C)
c.2704G>C (p.Glu902Gln)
c.3481G>C (p.Glu1161Gln)
c.3369G>C (p.Ser1123=)
n.3450G>C
c.3145G>C (p.Glu1049Gln)
c.3556G>C (p.Glu1186Gln)
c.*3198G>C (n.*3198G>C)
n.3581G>C
c.151+6797G>C (n.151+6797G>C)
c.701G>C (n.701G>C)
c.1012G>C (p.Glu338Gln)
c.3478G>C (p.Glu1160Gln)
c.656-733G>C (n.656-733G>C)
c.3409G>C (p.Glu1137Gln)
c.3472G>C (p.Glu1158Gln)
c.3460G>C (p.Glu1154Gln)
2g.144389615C>TCA348699205ZEB2c.*3330G>A (n.*3330G>A)
c.2704G>A (p.Glu902Lys)
c.3481G>A (p.Glu1161Lys)
c.3369G>A (p.Ser1123=)
n.3450G>A
c.3145G>A (p.Glu1049Lys)
c.3556G>A (p.Glu1186Lys)
c.*3198G>A (n.*3198G>A)
n.3581G>A
c.151+6797G>A (n.151+6797G>A)
c.701G>A (n.701G>A)
c.1012G>A (p.Glu338Lys)
c.3478G>A (p.Glu1160Lys)
c.656-733G>A (n.656-733G>A)
c.3409G>A (p.Glu1137Lys)
c.3472G>A (p.Glu1158Lys)
c.3460G>A (p.Glu1154Lys)
 gnomAD v4
2g.144389616G>ACA429441103ZEB2c.*3329C>T (n.*3329C>T)
c.2703C>T (p.Phe901=)
c.3480C>T (p.Phe1160=)
c.3368C>T (p.Ser1123Leu)
n.3449C>T
c.3144C>T (p.Phe1048=)
c.3555C>T (p.Phe1185=)
c.*3197C>T (n.*3197C>T)
n.3580C>T
c.151+6796C>T (n.151+6796C>T)
c.700C>T (n.700C>T)
c.1011C>T (p.Phe337=)
c.3477C>T (p.Phe1159=)
c.656-734C>T (n.656-734C>T)
c.3408C>T (p.Phe1136=)
c.3471C>T (p.Phe1157=)
c.3459C>T (p.Phe1153=)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144389616G>CCA348699206ZEB2c.*3329C>G (n.*3329C>G)
c.2703C>G (p.Phe901Leu)
c.3480C>G (p.Phe1160Leu)
c.3368C>G (p.Ser1123Trp)
n.3449C>G
c.3144C>G (p.Phe1048Leu)
c.3555C>G (p.Phe1185Leu)
c.*3197C>G (n.*3197C>G)
n.3580C>G
c.151+6796C>G (n.151+6796C>G)
c.700C>G (n.700C>G)
c.1011C>G (p.Phe337Leu)
c.3477C>G (p.Phe1159Leu)
c.656-734C>G (n.656-734C>G)
c.3408C>G (p.Phe1136Leu)
c.3471C>G (p.Phe1157Leu)
c.3459C>G (p.Phe1153Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.144389616G=CA1294881267ZEB2c.*3329C= (n.*3329C=)
c.2703C= (p.Phe901=)
c.3480C= (p.Phe1160=)
c.3368C= (p.Ser1123=)
n.3449C=
c.3144C= (p.Phe1048=)
c.3555C= (p.Phe1185=)
c.*3197C= (n.*3197C=)
n.3580C=
c.151+6796C= (n.151+6796C=)
c.700C= (n.700C=)
c.1011C= (p.Phe337=)
c.3477C= (p.Phe1159=)
c.656-734C= (n.656-734C=)
c.3408C= (p.Phe1136=)
c.3471C= (p.Phe1157=)
c.3459C= (p.Phe1153=)
2g.144389616G>TCA348699207ZEB2c.*3329C>A (n.*3329C>A)
c.2703C>A (p.Phe901Leu)
c.3480C>A (p.Phe1160Leu)
c.3368C>A (p.Ser1123Ter)
n.3449C>A
c.3144C>A (p.Phe1048Leu)
c.3555C>A (p.Phe1185Leu)
c.*3197C>A (n.*3197C>A)
n.3580C>A
c.151+6796C>A (n.151+6796C>A)
c.700C>A (n.700C>A)
c.1011C>A (p.Phe337Leu)
c.3477C>A (p.Phe1159Leu)
c.656-734C>A (n.656-734C>A)
c.3408C>A (p.Phe1136Leu)
c.3471C>A (p.Phe1157Leu)
c.3459C>A (p.Phe1153Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.144389616_144389618delinsTTCCA2739271216ZEB2c.*3327_*3329delinsGAA (n.*3327_*3329delinsGAA)
c.2701_2703delinsGAA (p.Phe901Glu)
c.3478_3480delinsGAA (p.Phe1160Glu)
c.3366_3368delinsGAA (p.Ser1122_Ser1123delinsArgLys)
n.3447_3449delinsGAA
c.3142_3144delinsGAA (p.Phe1048Glu)
c.3553_3555delinsGAA (p.Phe1185Glu)
c.*3195_*3197delinsGAA (n.*3195_*3197delinsGAA)
n.3578_3580delinsGAA
c.151+6794_151+6796delinsGAA (n.151+6794_151+6796delinsGAA)
c.698_700delinsGAA (n.698_700delinsGAA)
c.1009_1011delinsGAA (p.Phe337Glu)
c.3475_3477delinsGAA (p.Phe1159Glu)
c.656-736_656-734delinsGAA (n.656-736_656-734delinsGAA)
c.3406_3408delinsGAA (p.Phe1136Glu)
c.3469_3471delinsGAA (p.Phe1157Glu)
c.3457_3459delinsGAA (p.Phe1153Glu)
 ClinVar
2g.144389617A=CA1294881268ZEB2c.*3328T= (n.*3328T=)
c.2702T= (p.Phe901=)
c.3479T= (p.Phe1160=)
c.3367T= (p.Ser1123=)
n.3448T=
c.3143T= (p.Phe1048=)
c.3554T= (p.Phe1185=)
c.*3196T= (n.*3196T=)
n.3579T=
c.151+6795T= (n.151+6795T=)
c.699T= (n.699T=)
c.1010T= (p.Phe337=)
c.3476T= (p.Phe1159=)
c.656-735T= (n.656-735T=)
c.3407T= (p.Phe1136=)
c.3470T= (p.Phe1157=)
c.3458T= (p.Phe1153=)
2g.144389617A>CCA348699208ZEB2c.*3328T>G (n.*3328T>G)
c.2702T>G (p.Phe901Cys)
c.3479T>G (p.Phe1160Cys)
c.3367T>G (p.Ser1123Ala)
n.3448T>G
c.3143T>G (p.Phe1048Cys)
c.3554T>G (p.Phe1185Cys)
c.*3196T>G (n.*3196T>G)
n.3579T>G
c.151+6795T>G (n.151+6795T>G)
c.699T>G (n.699T>G)
c.1010T>G (p.Phe337Cys)
c.3476T>G (p.Phe1159Cys)
c.656-735T>G (n.656-735T>G)
c.3407T>G (p.Phe1136Cys)
c.3470T>G (p.Phe1157Cys)
c.3458T>G (p.Phe1153Cys)
2g.144389617A>GCA348699209ZEB2c.*3328T>C (n.*3328T>C)
c.2702T>C (p.Phe901Ser)
c.3479T>C (p.Phe1160Ser)
c.3367T>C (p.Ser1123Pro)
n.3448T>C
c.3143T>C (p.Phe1048Ser)
c.3554T>C (p.Phe1185Ser)
c.*3196T>C (n.*3196T>C)
n.3579T>C
c.151+6795T>C (n.151+6795T>C)
c.699T>C (n.699T>C)
c.1010T>C (p.Phe337Ser)
c.3476T>C (p.Phe1159Ser)
c.656-735T>C (n.656-735T>C)
c.3407T>C (p.Phe1136Ser)
c.3470T>C (p.Phe1157Ser)
c.3458T>C (p.Phe1153Ser)
2g.144389617A>TCA348699210ZEB2c.*3328T>A (n.*3328T>A)
c.2702T>A (p.Phe901Tyr)
c.3479T>A (p.Phe1160Tyr)
c.3367T>A (p.Ser1123Thr)
n.3448T>A
c.3143T>A (p.Phe1048Tyr)
c.3554T>A (p.Phe1185Tyr)
c.*3196T>A (n.*3196T>A)
n.3579T>A
c.151+6795T>A (n.151+6795T>A)
c.699T>A (n.699T>A)
c.1010T>A (p.Phe337Tyr)
c.3476T>A (p.Phe1159Tyr)
c.656-735T>A (n.656-735T>A)
c.3407T>A (p.Phe1136Tyr)
c.3470T>A (p.Phe1157Tyr)
c.3458T>A (p.Phe1153Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.144389618A=CA1294881269ZEB2c.*3327T= (n.*3327T=)
c.2701T= (p.Phe901=)
c.3478T= (p.Phe1160=)
c.3366T= (p.Ser1122=)
n.3447T=
c.3142T= (p.Phe1048=)
c.3553T= (p.Phe1185=)
c.*3195T= (n.*3195T=)
n.3578T=
c.151+6794T= (n.151+6794T=)
c.698T= (n.698T=)
c.1009T= (p.Phe337=)
c.3475T= (p.Phe1159=)
c.656-736T= (n.656-736T=)
c.3406T= (p.Phe1136=)
c.3469T= (p.Phe1157=)
c.3457T= (p.Phe1153=)
2g.144389618A>CCA348699212ZEB2c.*3327T>G (n.*3327T>G)
c.2701T>G (p.Phe901Val)
c.3478T>G (p.Phe1160Val)
c.3366T>G (p.Ser1122Arg)
n.3447T>G
c.3142T>G (p.Phe1048Val)
c.3553T>G (p.Phe1185Val)
c.*3195T>G (n.*3195T>G)
n.3578T>G
c.151+6794T>G (n.151+6794T>G)
c.698T>G (n.698T>G)
c.1009T>G (p.Phe337Val)
c.3475T>G (p.Phe1159Val)
c.656-736T>G (n.656-736T>G)
c.3406T>G (p.Phe1136Val)
c.3469T>G (p.Phe1157Val)
c.3457T>G (p.Phe1153Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389618A>GCA348699213ZEB2c.*3327T>C (n.*3327T>C)
c.2701T>C (p.Phe901Leu)
c.3478T>C (p.Phe1160Leu)
c.3366T>C (p.Ser1122=)
n.3447T>C
c.3142T>C (p.Phe1048Leu)
c.3553T>C (p.Phe1185Leu)
c.*3195T>C (n.*3195T>C)
n.3578T>C
c.151+6794T>C (n.151+6794T>C)
c.698T>C (n.698T>C)
c.1009T>C (p.Phe337Leu)
c.3475T>C (p.Phe1159Leu)
c.656-736T>C (n.656-736T>C)
c.3406T>C (p.Phe1136Leu)
c.3469T>C (p.Phe1157Leu)
c.3457T>C (p.Phe1153Leu)
2g.144389618A>TCA348699211ZEB2c.*3327T>A (n.*3327T>A)
c.2701T>A (p.Phe901Ile)
c.3478T>A (p.Phe1160Ile)
c.3366T>A (p.Ser1122Arg)
n.3447T>A
c.3142T>A (p.Phe1048Ile)
c.3553T>A (p.Phe1185Ile)
c.*3195T>A (n.*3195T>A)
n.3578T>A
c.151+6794T>A (n.151+6794T>A)
c.698T>A (n.698T>A)
c.1009T>A (p.Phe337Ile)
c.3475T>A (p.Phe1159Ile)
c.656-736T>A (n.656-736T>A)
c.3406T>A (p.Phe1136Ile)
c.3469T>A (p.Phe1157Ile)
c.3457T>A (p.Phe1153Ile)
 gnomAD v3 gnomAD v4
2g.144389619C>ACA348699214ZEB2c.*3326G>T (n.*3326G>T)
c.2700G>T (p.Glu900Asp)
c.3477G>T (p.Glu1159Asp)
c.3365G>T (p.Ser1122Ile)
n.3446G>T
c.3141G>T (p.Glu1047Asp)
c.3552G>T (p.Glu1184Asp)
c.*3194G>T (n.*3194G>T)
n.3577G>T
c.151+6793G>T (n.151+6793G>T)
c.697G>T (n.697G>T)
c.1008G>T (p.Glu336Asp)
c.3474G>T (p.Glu1158Asp)
c.656-737G>T (n.656-737G>T)
c.3405G>T (p.Glu1135Asp)
c.3468G>T (p.Glu1156Asp)
c.3456G>T (p.Glu1152Asp)
2g.144389619C=CA1294881270ZEB2c.*3326G= (n.*3326G=)
c.2700G= (p.Glu900=)
c.3477G= (p.Glu1159=)
c.3365G= (p.Ser1122=)
n.3446G=
c.3141G= (p.Glu1047=)
c.3552G= (p.Glu1184=)
c.*3194G= (n.*3194G=)
n.3577G=
c.151+6793G= (n.151+6793G=)
c.697G= (n.697G=)
c.1008G= (p.Glu336=)
c.3474G= (p.Glu1158=)
c.656-737G= (n.656-737G=)
c.3405G= (p.Glu1135=)
c.3468G= (p.Glu1156=)
c.3456G= (p.Glu1152=)
2g.144389619C>GCA348699215ZEB2c.*3326G>C (n.*3326G>C)
c.2700G>C (p.Glu900Asp)
c.3477G>C (p.Glu1159Asp)
c.3365G>C (p.Ser1122Thr)
n.3446G>C
c.3141G>C (p.Glu1047Asp)
c.3552G>C (p.Glu1184Asp)
c.*3194G>C (n.*3194G>C)
n.3577G>C
c.151+6793G>C (n.151+6793G>C)
c.697G>C (n.697G>C)
c.1008G>C (p.Glu336Asp)
c.3474G>C (p.Glu1158Asp)
c.656-737G>C (n.656-737G>C)
c.3405G>C (p.Glu1135Asp)
c.3468G>C (p.Glu1156Asp)
c.3456G>C (p.Glu1152Asp)
2g.144389619C>TCA1898110ZEB2c.*3326G>A (n.*3326G>A)
c.2700G>A (p.Glu900=)
c.3477G>A (p.Glu1159=)
c.3365G>A (p.Ser1122Asn)
n.3446G>A
c.3141G>A (p.Glu1047=)
c.3552G>A (p.Glu1184=)
c.*3194G>A (n.*3194G>A)
n.3577G>A
c.151+6793G>A (n.151+6793G>A)
c.697G>A (n.697G>A)
c.1008G>A (p.Glu336=)
c.3474G>A (p.Glu1158=)
c.656-737G>A (n.656-737G>A)
c.3405G>A (p.Glu1135=)
c.3468G>A (p.Glu1156=)
c.3456G>A (p.Glu1152=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389620T>ACA348699216ZEB2c.*3325A>T (n.*3325A>T)
c.2699A>T (p.Glu900Val)
c.3476A>T (p.Glu1159Val)
c.3364A>T (p.Ser1122Cys)
n.3445A>T
c.3140A>T (p.Glu1047Val)
c.3551A>T (p.Glu1184Val)
c.*3193A>T (n.*3193A>T)
n.3576A>T
c.151+6792A>T (n.151+6792A>T)
c.696A>T (n.696A>T)
c.1007A>T (p.Glu336Val)
c.3473A>T (p.Glu1158Val)
c.656-738A>T (n.656-738A>T)
c.3404A>T (p.Glu1135Val)
c.3467A>T (p.Glu1156Val)
c.3455A>T (p.Glu1152Val)
2g.144389620T>CCA348699217ZEB2c.*3325A>G (n.*3325A>G)
c.2699A>G (p.Glu900Gly)
c.3476A>G (p.Glu1159Gly)
c.3364A>G (p.Ser1122Gly)
n.3445A>G
c.3140A>G (p.Glu1047Gly)
c.3551A>G (p.Glu1184Gly)
c.*3193A>G (n.*3193A>G)
n.3576A>G
c.151+6792A>G (n.151+6792A>G)
c.696A>G (n.696A>G)
c.1007A>G (p.Glu336Gly)
c.3473A>G (p.Glu1158Gly)
c.656-738A>G (n.656-738A>G)
c.3404A>G (p.Glu1135Gly)
c.3467A>G (p.Glu1156Gly)
c.3455A>G (p.Glu1152Gly)
2g.144389620T>GCA348699218ZEB2c.*3325A>C (n.*3325A>C)
c.2699A>C (p.Glu900Ala)
c.3476A>C (p.Glu1159Ala)
c.3364A>C (p.Ser1122Arg)
n.3445A>C
c.3140A>C (p.Glu1047Ala)
c.3551A>C (p.Glu1184Ala)
c.*3193A>C (n.*3193A>C)
n.3576A>C
c.151+6792A>C (n.151+6792A>C)
c.696A>C (n.696A>C)
c.1007A>C (p.Glu336Ala)
c.3473A>C (p.Glu1158Ala)
c.656-738A>C (n.656-738A>C)
c.3404A>C (p.Glu1135Ala)
c.3467A>C (p.Glu1156Ala)
c.3455A>C (p.Glu1152Ala)
2g.144389621C>ACA348699219ZEB2c.*3324G>T (n.*3324G>T)
c.2698G>T (p.Glu900Ter)
c.3475G>T (p.Glu1159Ter)
c.3363G>T (p.Arg1121Ser)
n.3444G>T
c.3139G>T (p.Glu1047Ter)
c.3550G>T (p.Glu1184Ter)
c.*3192G>T (n.*3192G>T)
n.3575G>T
c.151+6791G>T (n.151+6791G>T)
c.695G>T (n.695G>T)
c.1006G>T (p.Glu336Ter)
c.3472G>T (p.Glu1158Ter)
c.656-739G>T (n.656-739G>T)
c.3403G>T (p.Glu1135Ter)
c.3466G>T (p.Glu1156Ter)
c.3454G>T (p.Glu1152Ter)
2g.144389621C>GCA348699221ZEB2c.*3324G>C (n.*3324G>C)
c.2698G>C (p.Glu900Gln)
c.3475G>C (p.Glu1159Gln)
c.3363G>C (p.Arg1121Ser)
n.3444G>C
c.3139G>C (p.Glu1047Gln)
c.3550G>C (p.Glu1184Gln)
c.*3192G>C (n.*3192G>C)
n.3575G>C
c.151+6791G>C (n.151+6791G>C)
c.695G>C (n.695G>C)
c.1006G>C (p.Glu336Gln)
c.3472G>C (p.Glu1158Gln)
c.656-739G>C (n.656-739G>C)
c.3403G>C (p.Glu1135Gln)
c.3466G>C (p.Glu1156Gln)
c.3454G>C (p.Glu1152Gln)
2g.144389621C>TCA348699220ZEB2c.*3324G>A (n.*3324G>A)
c.2698G>A (p.Glu900Lys)
c.3475G>A (p.Glu1159Lys)
c.3363G>A (p.Arg1121=)
n.3444G>A
c.3139G>A (p.Glu1047Lys)
c.3550G>A (p.Glu1184Lys)
c.*3192G>A (n.*3192G>A)
n.3575G>A
c.151+6791G>A (n.151+6791G>A)
c.695G>A (n.695G>A)
c.1006G>A (p.Glu336Lys)
c.3472G>A (p.Glu1158Lys)
c.656-739G>A (n.656-739G>A)
c.3403G>A (p.Glu1135Lys)
c.3466G>A (p.Glu1156Lys)
c.3454G>A (p.Glu1152Lys)
2g.144389622C>ACA348699222ZEB2c.*3323G>T (n.*3323G>T)
c.2697G>T (p.Glu899Asp)
c.3474G>T (p.Glu1158Asp)
c.3362G>T (p.Arg1121Met)
n.3443G>T
c.3138G>T (p.Glu1046Asp)
c.3549G>T (p.Glu1183Asp)
c.*3191G>T (n.*3191G>T)
n.3574G>T
c.151+6790G>T (n.151+6790G>T)
c.694G>T (n.694G>T)
c.1005G>T (p.Glu335Asp)
c.3471G>T (p.Glu1157Asp)
c.656-740G>T (n.656-740G>T)
c.3402G>T (p.Glu1134Asp)
c.3465G>T (p.Glu1155Asp)
c.3453G>T (p.Glu1151Asp)
2g.144389622C=CA1294881271ZEB2c.*3323G= (n.*3323G=)
c.2697G= (p.Glu899=)
c.3474G= (p.Glu1158=)
c.3362G= (p.Arg1121=)
n.3443G=
c.3138G= (p.Glu1046=)
c.3549G= (p.Glu1183=)
c.*3191G= (n.*3191G=)
n.3574G=
c.151+6790G= (n.151+6790G=)
c.694G= (n.694G=)
c.1005G= (p.Glu335=)
c.3471G= (p.Glu1157=)
c.656-740G= (n.656-740G=)
c.3402G= (p.Glu1134=)
c.3465G= (p.Glu1155=)
c.3453G= (p.Glu1151=)
2g.144389622C>GCA348699223ZEB2c.*3323G>C (n.*3323G>C)
c.2697G>C (p.Glu899Asp)
c.3474G>C (p.Glu1158Asp)
c.3362G>C (p.Arg1121Thr)
n.3443G>C
c.3138G>C (p.Glu1046Asp)
c.3549G>C (p.Glu1183Asp)
c.*3191G>C (n.*3191G>C)
n.3574G>C
c.151+6790G>C (n.151+6790G>C)
c.694G>C (n.694G>C)
c.1005G>C (p.Glu335Asp)
c.3471G>C (p.Glu1157Asp)
c.656-740G>C (n.656-740G>C)
c.3402G>C (p.Glu1134Asp)
c.3465G>C (p.Glu1155Asp)
c.3453G>C (p.Glu1151Asp)
2g.144389622C>TCA429441104ZEB2c.*3323G>A (n.*3323G>A)
c.2697G>A (p.Glu899=)
c.3474G>A (p.Glu1158=)
c.3362G>A (p.Arg1121Lys)
n.3443G>A
c.3138G>A (p.Glu1046=)
c.3549G>A (p.Glu1183=)
c.*3191G>A (n.*3191G>A)
n.3574G>A
c.151+6790G>A (n.151+6790G>A)
c.694G>A (n.694G>A)
c.1005G>A (p.Glu335=)
c.3471G>A (p.Glu1157=)
c.656-740G>A (n.656-740G>A)
c.3402G>A (p.Glu1134=)
c.3465G>A (p.Glu1155=)
c.3453G>A (p.Glu1151=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389623_144389624dupCA2586969977ZEB2c.*3322_*3323dup (n.*3322_*3323dup)
c.2696_2697dup (p.Glu900ArgfsTer?)
c.3473_3474dup (p.Glu1159ArgfsTer?)
c.3361_3362dup (p.Ser1122GlyfsTer10)
n.3442_3443dup
c.3137_3138dup (p.Glu1047ArgfsTer?)
c.3548_3549dup (p.Glu1184ArgfsTer?)
c.*3190_*3191dup (n.*3190_*3191dup)
n.3573_3574dup
c.151+6789_151+6790dup (n.151+6789_151+6790dup)
c.693_694dup (n.693_694dup)
c.1004_1005dup (p.Glu336ArgfsTer?)
c.3470_3471dup (p.Glu1158ArgfsTer?)
c.656-741_656-740dup (n.656-741_656-740dup)
c.3401_3402dup (p.Glu1135ArgfsTer?)
c.3464_3465dup (p.Glu1156ArgfsTer?)
c.3452_3453dup (p.Glu1152ArgfsTer?)
2g.144389623T>ACA348699224ZEB2c.*3322A>T (n.*3322A>T)
c.2696A>T (p.Glu899Val)
c.3473A>T (p.Glu1158Val)
c.3361A>T (p.Arg1121Trp)
n.3442A>T
c.3137A>T (p.Glu1046Val)
c.3548A>T (p.Glu1183Val)
c.*3190A>T (n.*3190A>T)
n.3573A>T
c.151+6789A>T (n.151+6789A>T)
c.693A>T (n.693A>T)
c.1004A>T (p.Glu335Val)
c.3470A>T (p.Glu1157Val)
c.656-741A>T (n.656-741A>T)
c.3401A>T (p.Glu1134Val)
c.3464A>T (p.Glu1155Val)
c.3452A>T (p.Glu1151Val)
2g.144389623T>CCA348699225ZEB2c.*3322A>G (n.*3322A>G)
c.2696A>G (p.Glu899Gly)
c.3473A>G (p.Glu1158Gly)
c.3361A>G (p.Arg1121Gly)
n.3442A>G
c.3137A>G (p.Glu1046Gly)
c.3548A>G (p.Glu1183Gly)
c.*3190A>G (n.*3190A>G)
n.3573A>G
c.151+6789A>G (n.151+6789A>G)
c.693A>G (n.693A>G)
c.1004A>G (p.Glu335Gly)
c.3470A>G (p.Glu1157Gly)
c.656-741A>G (n.656-741A>G)
c.3401A>G (p.Glu1134Gly)
c.3464A>G (p.Glu1155Gly)
c.3452A>G (p.Glu1151Gly)
2g.144389623T>GCA348699226ZEB2c.*3322A>C (n.*3322A>C)
c.2696A>C (p.Glu899Ala)
c.3473A>C (p.Glu1158Ala)
c.3361A>C (p.Arg1121=)
n.3442A>C
c.3137A>C (p.Glu1046Ala)
c.3548A>C (p.Glu1183Ala)
c.*3190A>C (n.*3190A>C)
n.3573A>C
c.151+6789A>C (n.151+6789A>C)
c.693A>C (n.693A>C)
c.1004A>C (p.Glu335Ala)
c.3470A>C (p.Glu1157Ala)
c.656-741A>C (n.656-741A>C)
c.3401A>C (p.Glu1134Ala)
c.3464A>C (p.Glu1155Ala)
c.3452A>C (p.Glu1151Ala)
2g.144389626_144389628delCA2577152055ZEB2c.*3320_*3322del (n.*3320_*3322del)
c.2694_2696del (p.Asp898del)
c.3471_3473del (p.Asp1157del)
c.3359_3361del (p.Thr1120del)
n.3440_3442del
c.3135_3137del (p.Asp1045del)
c.3546_3548del (p.Asp1182del)
c.*3188_*3190del (n.*3188_*3190del)
n.3571_3573del
c.151+6787_151+6789del (n.151+6787_151+6789del)
c.691_693del (n.691_693del)
c.1002_1004del (p.Asp334del)
c.3468_3470del (p.Asp1156del)
c.656-743_656-741del (n.656-743_656-741del)
c.3399_3401del (p.Asp1133del)
c.3462_3464del (p.Asp1154del)
c.3450_3452del (p.Asp1150del)
2g.144389624C>ACA348699228ZEB2c.*3321G>T (n.*3321G>T)
c.2695G>T (p.Glu899Ter)
c.3472G>T (p.Glu1158Ter)
c.3360G>T (p.Thr1120=)
n.3441G>T
c.3136G>T (p.Glu1046Ter)
c.3547G>T (p.Glu1183Ter)
c.*3189G>T (n.*3189G>T)
n.3572G>T
c.151+6788G>T (n.151+6788G>T)
c.692G>T (n.692G>T)
c.1003G>T (p.Glu335Ter)
c.3469G>T (p.Glu1157Ter)
c.656-742G>T (n.656-742G>T)
c.3400G>T (p.Glu1134Ter)
c.3463G>T (p.Glu1155Ter)
c.3451G>T (p.Glu1151Ter)
2g.144389624C>GCA348699229ZEB2c.*3321G>C (n.*3321G>C)
c.2695G>C (p.Glu899Gln)
c.3472G>C (p.Glu1158Gln)
c.3360G>C (p.Thr1120=)
n.3441G>C
c.3136G>C (p.Glu1046Gln)
c.3547G>C (p.Glu1183Gln)
c.*3189G>C (n.*3189G>C)
n.3572G>C
c.151+6788G>C (n.151+6788G>C)
c.692G>C (n.692G>C)
c.1003G>C (p.Glu335Gln)
c.3469G>C (p.Glu1157Gln)
c.656-742G>C (n.656-742G>C)
c.3400G>C (p.Glu1134Gln)
c.3463G>C (p.Glu1155Gln)
c.3451G>C (p.Glu1151Gln)
2g.144389624C>TCA348699227ZEB2c.*3321G>A (n.*3321G>A)
c.2695G>A (p.Glu899Lys)
c.3472G>A (p.Glu1158Lys)
c.3360G>A (p.Thr1120=)
n.3441G>A
c.3136G>A (p.Glu1046Lys)
c.3547G>A (p.Glu1183Lys)
c.*3189G>A (n.*3189G>A)
n.3572G>A
c.151+6788G>A (n.151+6788G>A)
c.692G>A (n.692G>A)
c.1003G>A (p.Glu335Lys)
c.3469G>A (p.Glu1157Lys)
c.656-742G>A (n.656-742G>A)
c.3400G>A (p.Glu1134Lys)
c.3463G>A (p.Glu1155Lys)
c.3451G>A (p.Glu1151Lys)
2g.144389625delCA658766349ZEB2c.*3320del (n.*3320del)
c.2694del (p.Asp898GlufsTer?)
c.3471del (p.Asp1157GlufsTer?)
c.3359del (p.Thr1120ArgfsTer11)
n.3440del
c.3135del (p.Asp1045GlufsTer?)
c.3546del (p.Asp1182GlufsTer?)
c.*3188del (n.*3188del)
n.3571del
c.151+6787del (n.151+6787del)
c.691del (n.691del)
c.1002del (p.Asp334GlufsTer?)
c.3468del (p.Asp1156GlufsTer?)
c.656-743del (n.656-743del)
c.3399del (p.Asp1133GlufsTer?)
c.3462del (p.Asp1154GlufsTer?)
c.3450del (p.Asp1150GlufsTer?)
2g.144389625G>ACA148681ZEB2c.*3320C>T (n.*3320C>T)
c.2694C>T (p.Asp898=)
c.3471C>T (p.Asp1157=)
c.3359C>T (p.Thr1120Met)
n.3440C>T
c.3135C>T (p.Asp1045=)
c.3546C>T (p.Asp1182=)
c.*3188C>T (n.*3188C>T)
n.3571C>T
c.151+6787C>T (n.151+6787C>T)
c.691C>T (n.691C>T)
c.1002C>T (p.Asp334=)
c.3468C>T (p.Asp1156=)
c.656-743C>T (n.656-743C>T)
c.3399C>T (p.Asp1133=)
c.3462C>T (p.Asp1154=)
c.3450C>T (p.Asp1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389625G>CCA348699231ZEB2c.*3320C>G (n.*3320C>G)
c.2694C>G (p.Asp898Glu)
c.3471C>G (p.Asp1157Glu)
c.3359C>G (p.Thr1120Arg)
n.3440C>G
c.3135C>G (p.Asp1045Glu)
c.3546C>G (p.Asp1182Glu)
c.*3188C>G (n.*3188C>G)
n.3571C>G
c.151+6787C>G (n.151+6787C>G)
c.691C>G (n.691C>G)
c.1002C>G (p.Asp334Glu)
c.3468C>G (p.Asp1156Glu)
c.656-743C>G (n.656-743C>G)
c.3399C>G (p.Asp1133Glu)
c.3462C>G (p.Asp1154Glu)
c.3450C>G (p.Asp1150Glu)
2g.144389625G=CA1294881272ZEB2c.*3320C= (n.*3320C=)
c.2694C= (p.Asp898=)
c.3471C= (p.Asp1157=)
c.3359C= (p.Thr1120=)
n.3440C=
c.3135C= (p.Asp1045=)
c.3546C= (p.Asp1182=)
c.*3188C= (n.*3188C=)
n.3571C=
c.151+6787C= (n.151+6787C=)
c.691C= (n.691C=)
c.1002C= (p.Asp334=)
c.3468C= (p.Asp1156=)
c.656-743C= (n.656-743C=)
c.3399C= (p.Asp1133=)
c.3462C= (p.Asp1154=)
c.3450C= (p.Asp1150=)
2g.144389625G>TCA348699230ZEB2c.*3320C>A (n.*3320C>A)
c.2694C>A (p.Asp898Glu)
c.3471C>A (p.Asp1157Glu)
c.3359C>A (p.Thr1120Lys)
n.3440C>A
c.3135C>A (p.Asp1045Glu)
c.3546C>A (p.Asp1182Glu)
c.*3188C>A (n.*3188C>A)
n.3571C>A
c.151+6787C>A (n.151+6787C>A)
c.691C>A (n.691C>A)
c.1002C>A (p.Asp334Glu)
c.3468C>A (p.Asp1156Glu)
c.656-743C>A (n.656-743C>A)
c.3399C>A (p.Asp1133Glu)
c.3462C>A (p.Asp1154Glu)
c.3450C>A (p.Asp1150Glu)
 gnomAD v4
2g.144389626T>ACA348699232ZEB2c.*3319A>T (n.*3319A>T)
c.2693A>T (p.Asp898Val)
c.3470A>T (p.Asp1157Val)
c.3358A>T (p.Thr1120Ser)
n.3439A>T
c.3134A>T (p.Asp1045Val)
c.3545A>T (p.Asp1182Val)
c.*3187A>T (n.*3187A>T)
n.3570A>T
c.151+6786A>T (n.151+6786A>T)
c.690A>T (n.690A>T)
c.1001A>T (p.Asp334Val)
c.3467A>T (p.Asp1156Val)
c.656-744A>T (n.656-744A>T)
c.3398A>T (p.Asp1133Val)
c.3461A>T (p.Asp1154Val)
c.3449A>T (p.Asp1150Val)
2g.144389626T>CCA348699233ZEB2c.*3319A>G (n.*3319A>G)
c.2693A>G (p.Asp898Gly)
c.3470A>G (p.Asp1157Gly)
c.3358A>G (p.Thr1120Ala)
n.3439A>G
c.3134A>G (p.Asp1045Gly)
c.3545A>G (p.Asp1182Gly)
c.*3187A>G (n.*3187A>G)
n.3570A>G
c.151+6786A>G (n.151+6786A>G)
c.690A>G (n.690A>G)
c.1001A>G (p.Asp334Gly)
c.3467A>G (p.Asp1156Gly)
c.656-744A>G (n.656-744A>G)
c.3398A>G (p.Asp1133Gly)
c.3461A>G (p.Asp1154Gly)
c.3449A>G (p.Asp1150Gly)
2g.144389626T>GCA348699234ZEB2c.*3319A>C (n.*3319A>C)
c.2693A>C (p.Asp898Ala)
c.3470A>C (p.Asp1157Ala)
c.3358A>C (p.Thr1120Pro)
n.3439A>C
c.3134A>C (p.Asp1045Ala)
c.3545A>C (p.Asp1182Ala)
c.*3187A>C (n.*3187A>C)
n.3570A>C
c.151+6786A>C (n.151+6786A>C)
c.690A>C (n.690A>C)
c.1001A>C (p.Asp334Ala)
c.3467A>C (p.Asp1156Ala)
c.656-744A>C (n.656-744A>C)
c.3398A>C (p.Asp1133Ala)
c.3461A>C (p.Asp1154Ala)
c.3449A>C (p.Asp1150Ala)
2g.144389627C>ACA348699235ZEB2c.*3318G>T (n.*3318G>T)
c.2692G>T (p.Asp898Tyr)
c.3469G>T (p.Asp1157Tyr)
c.3357G>T (p.Ala1119=)
n.3438G>T
c.3133G>T (p.Asp1045Tyr)
c.3544G>T (p.Asp1182Tyr)
c.*3186G>T (n.*3186G>T)
n.3569G>T
c.151+6785G>T (n.151+6785G>T)
c.689G>T (n.689G>T)
c.1000G>T (p.Asp334Tyr)
c.3466G>T (p.Asp1156Tyr)
c.656-745G>T (n.656-745G>T)
c.3397G>T (p.Asp1133Tyr)
c.3460G>T (p.Asp1154Tyr)
c.3448G>T (p.Asp1150Tyr)
2g.144389627C=CA1294881273ZEB2c.*3318G= (n.*3318G=)
c.2692G= (p.Asp898=)
c.3469G= (p.Asp1157=)
c.3357G= (p.Ala1119=)
n.3438G=
c.3133G= (p.Asp1045=)
c.3544G= (p.Asp1182=)
c.*3186G= (n.*3186G=)
n.3569G=
c.151+6785G= (n.151+6785G=)
c.689G= (n.689G=)
c.1000G= (p.Asp334=)
c.3466G= (p.Asp1156=)
c.656-745G= (n.656-745G=)
c.3397G= (p.Asp1133=)
c.3460G= (p.Asp1154=)
c.3448G= (p.Asp1150=)
2g.144389627C>GCA348699236ZEB2c.*3318G>C (n.*3318G>C)
c.2692G>C (p.Asp898His)
c.3469G>C (p.Asp1157His)
c.3357G>C (p.Ala1119=)
n.3438G>C
c.3133G>C (p.Asp1045His)
c.3544G>C (p.Asp1182His)
c.*3186G>C (n.*3186G>C)
n.3569G>C
c.151+6785G>C (n.151+6785G>C)
c.689G>C (n.689G>C)
c.1000G>C (p.Asp334His)
c.3466G>C (p.Asp1156His)
c.656-745G>C (n.656-745G>C)
c.3397G>C (p.Asp1133His)
c.3460G>C (p.Asp1154His)
c.3448G>C (p.Asp1150His)
 gnomAD v4
2g.144389627C>TCA348699237ZEB2c.*3318G>A (n.*3318G>A)
c.2692G>A (p.Asp898Asn)
c.3469G>A (p.Asp1157Asn)
c.3357G>A (p.Ala1119=)
n.3438G>A
c.3133G>A (p.Asp1045Asn)
c.3544G>A (p.Asp1182Asn)
c.*3186G>A (n.*3186G>A)
n.3569G>A
c.151+6785G>A (n.151+6785G>A)
c.689G>A (n.689G>A)
c.1000G>A (p.Asp334Asn)
c.3466G>A (p.Asp1156Asn)
c.656-745G>A (n.656-745G>A)
c.3397G>A (p.Asp1133Asn)
c.3460G>A (p.Asp1154Asn)
c.3448G>A (p.Asp1150Asn)
 ClinVar dbSNP gnomAD v4
2g.144389628G>ACA429441105ZEB2c.*3317C>T (n.*3317C>T)
c.2691C>T (p.Gly897=)
c.3468C>T (p.Gly1156=)
c.3356C>T (p.Ala1119Val)
n.3437C>T
c.3132C>T (p.Gly1044=)
c.3543C>T (p.Gly1181=)
c.*3185C>T (n.*3185C>T)
n.3568C>T
c.151+6784C>T (n.151+6784C>T)
c.688C>T (n.688C>T)
c.999C>T (p.Gly333=)
c.3465C>T (p.Gly1155=)
c.656-746C>T (n.656-746C>T)
c.3396C>T (p.Gly1132=)
c.3459C>T (p.Gly1153=)
c.3447C>T (p.Gly1149=)
 COSMIC
2g.144389628G>CCA429441106ZEB2c.*3317C>G (n.*3317C>G)
c.2691C>G (p.Gly897=)
c.3468C>G (p.Gly1156=)
c.3356C>G (p.Ala1119Gly)
n.3437C>G
c.3132C>G (p.Gly1044=)
c.3543C>G (p.Gly1181=)
c.*3185C>G (n.*3185C>G)
n.3568C>G
c.151+6784C>G (n.151+6784C>G)
c.688C>G (n.688C>G)
c.999C>G (p.Gly333=)
c.3465C>G (p.Gly1155=)
c.656-746C>G (n.656-746C>G)
c.3396C>G (p.Gly1132=)
c.3459C>G (p.Gly1153=)
c.3447C>G (p.Gly1149=)
2g.144389628G>TCA429441107ZEB2c.*3317C>A (n.*3317C>A)
c.2691C>A (p.Gly897=)
c.3468C>A (p.Gly1156=)
c.3356C>A (p.Ala1119Glu)
n.3437C>A
c.3132C>A (p.Gly1044=)
c.3543C>A (p.Gly1181=)
c.*3185C>A (n.*3185C>A)
n.3568C>A
c.151+6784C>A (n.151+6784C>A)
c.688C>A (n.688C>A)
c.999C>A (p.Gly333=)
c.3465C>A (p.Gly1155=)
c.656-746C>A (n.656-746C>A)
c.3396C>A (p.Gly1132=)
c.3459C>A (p.Gly1153=)
c.3447C>A (p.Gly1149=)
2g.144389629C>ACA348699238ZEB2c.*3316G>T (n.*3316G>T)
c.2690G>T (p.Gly897Val)
c.3467G>T (p.Gly1156Val)
c.3355G>T (p.Ala1119Ser)
n.3436G>T
c.3131G>T (p.Gly1044Val)
c.3542G>T (p.Gly1181Val)
c.*3184G>T (n.*3184G>T)
n.3567G>T
c.151+6783G>T (n.151+6783G>T)
c.687G>T (n.687G>T)
c.998G>T (p.Gly333Val)
c.3464G>T (p.Gly1155Val)
c.656-747G>T (n.656-747G>T)
c.3395G>T (p.Gly1132Val)
c.3458G>T (p.Gly1153Val)
c.3446G>T (p.Gly1149Val)
2g.144389629C=CA1294881274ZEB2c.*3316G= (n.*3316G=)
c.2690G= (p.Gly897=)
c.3467G= (p.Gly1156=)
c.3355G= (p.Ala1119=)
n.3436G=
c.3131G= (p.Gly1044=)
c.3542G= (p.Gly1181=)
c.*3184G= (n.*3184G=)
n.3567G=
c.151+6783G= (n.151+6783G=)
c.687G= (n.687G=)
c.998G= (p.Gly333=)
c.3464G= (p.Gly1155=)
c.656-747G= (n.656-747G=)
c.3395G= (p.Gly1132=)
c.3458G= (p.Gly1153=)
c.3446G= (p.Gly1149=)
2g.144389629C>GCA348699239ZEB2c.*3316G>C (n.*3316G>C)
c.2690G>C (p.Gly897Ala)
c.3467G>C (p.Gly1156Ala)
c.3355G>C (p.Ala1119Pro)
n.3436G>C
c.3131G>C (p.Gly1044Ala)
c.3542G>C (p.Gly1181Ala)
c.*3184G>C (n.*3184G>C)
n.3567G>C
c.151+6783G>C (n.151+6783G>C)
c.687G>C (n.687G>C)
c.998G>C (p.Gly333Ala)
c.3464G>C (p.Gly1155Ala)
c.656-747G>C (n.656-747G>C)
c.3395G>C (p.Gly1132Ala)
c.3458G>C (p.Gly1153Ala)
c.3446G>C (p.Gly1149Ala)
 ClinVar dbSNP
2g.144389629C>TCA348699240ZEB2c.*3316G>A (n.*3316G>A)
c.2690G>A (p.Gly897Asp)
c.3467G>A (p.Gly1156Asp)
c.3355G>A (p.Ala1119Thr)
n.3436G>A
c.3131G>A (p.Gly1044Asp)
c.3542G>A (p.Gly1181Asp)
c.*3184G>A (n.*3184G>A)
n.3567G>A
c.151+6783G>A (n.151+6783G>A)
c.687G>A (n.687G>A)
c.998G>A (p.Gly333Asp)
c.3464G>A (p.Gly1155Asp)
c.656-747G>A (n.656-747G>A)
c.3395G>A (p.Gly1132Asp)
c.3458G>A (p.Gly1153Asp)
c.3446G>A (p.Gly1149Asp)
2g.144389629_144389630insTCA2542021771ZEB2c.*3315_*3316insA (n.*3315_*3316insA)
c.2689_2690insA (p.Gly897GlufsTer13)
c.3466_3467insA (p.Gly1156GlufsTer13)
c.3354_3355insA (p.Ala1119SerfsTer?)
n.3435_3436insA
c.3130_3131insA (p.Gly1044GlufsTer13)
c.3541_3542insA (p.Gly1181GlufsTer13)
c.*3183_*3184insA (n.*3183_*3184insA)
n.3566_3567insA
c.151+6782_151+6783insA (n.151+6782_151+6783insA)
c.686_687insA (n.686_687insA)
c.997_998insA (p.Gly333GlufsTer13)
c.3463_3464insA (p.Gly1155GlufsTer13)
c.656-748_656-747insA (n.656-748_656-747insA)
c.3394_3395insA (p.Gly1132GlufsTer13)
c.3457_3458insA (p.Gly1153GlufsTer13)
c.3445_3446insA (p.Gly1149GlufsTer13)
2g.144389630C>ACA1898111ZEB2c.*3315G>T (n.*3315G>T)
c.2689G>T (p.Gly897Cys)
c.3466G>T (p.Gly1156Cys)
c.3354G>T (p.Met1118Ile)
n.3435G>T
c.3130G>T (p.Gly1044Cys)
c.3541G>T (p.Gly1181Cys)
c.*3183G>T (n.*3183G>T)
n.3566G>T
c.151+6782G>T (n.151+6782G>T)
c.686G>T (n.686G>T)
c.997G>T (p.Gly333Cys)
c.3463G>T (p.Gly1155Cys)
c.656-748G>T (n.656-748G>T)
c.3394G>T (p.Gly1132Cys)
c.3457G>T (p.Gly1153Cys)
c.3445G>T (p.Gly1149Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144389630C=CA1294881275ZEB2c.*3315G= (n.*3315G=)
c.2689G= (p.Gly897=)
c.3466G= (p.Gly1156=)
c.3354G= (p.Met1118=)
n.3435G=
c.3130G= (p.Gly1044=)
c.3541G= (p.Gly1181=)
c.*3183G= (n.*3183G=)
n.3566G=
c.151+6782G= (n.151+6782G=)
c.686G= (n.686G=)
c.997G= (p.Gly333=)
c.3463G= (p.Gly1155=)
c.656-748G= (n.656-748G=)
c.3394G= (p.Gly1132=)
c.3457G= (p.Gly1153=)
c.3445G= (p.Gly1149=)
2g.144389630C>GCA348699241ZEB2c.*3315G>C (n.*3315G>C)
c.2689G>C (p.Gly897Arg)
c.3466G>C (p.Gly1156Arg)
c.3354G>C (p.Met1118Ile)
n.3435G>C
c.3130G>C (p.Gly1044Arg)
c.3541G>C (p.Gly1181Arg)
c.*3183G>C (n.*3183G>C)
n.3566G>C
c.151+6782G>C (n.151+6782G>C)
c.686G>C (n.686G>C)
c.997G>C (p.Gly333Arg)
c.3463G>C (p.Gly1155Arg)
c.656-748G>C (n.656-748G>C)
c.3394G>C (p.Gly1132Arg)
c.3457G>C (p.Gly1153Arg)
c.3445G>C (p.Gly1149Arg)
2g.144389630C>TCA348699242ZEB2c.*3315G>A (n.*3315G>A)
c.2689G>A (p.Gly897Ser)
c.3466G>A (p.Gly1156Ser)
c.3354G>A (p.Met1118Ile)
n.3435G>A
c.3130G>A (p.Gly1044Ser)
c.3541G>A (p.Gly1181Ser)
c.*3183G>A (n.*3183G>A)
n.3566G>A
c.151+6782G>A (n.151+6782G>A)
c.686G>A (n.686G>A)
c.997G>A (p.Gly333Ser)
c.3463G>A (p.Gly1155Ser)
c.656-748G>A (n.656-748G>A)
c.3394G>A (p.Gly1132Ser)
c.3457G>A (p.Gly1153Ser)
c.3445G>A (p.Gly1149Ser)
2g.144389631A>CCA348699243ZEB2c.*3314T>G (n.*3314T>G)
c.2688T>G (p.Asp896Glu)
c.3465T>G (p.Asp1155Glu)
c.3353T>G (p.Met1118Arg)
n.3434T>G
c.3129T>G (p.Asp1043Glu)
c.3540T>G (p.Asp1180Glu)
c.*3182T>G (n.*3182T>G)
n.3565T>G
c.151+6781T>G (n.151+6781T>G)
c.685T>G (n.685T>G)
c.996T>G (p.Asp332Glu)
c.3462T>G (p.Asp1154Glu)
c.656-749T>G (n.656-749T>G)
c.3393T>G (p.Asp1131Glu)
c.3456T>G (p.Asp1152Glu)
c.3444T>G (p.Asp1148Glu)
2g.144389631A>GCA429441108ZEB2c.*3314T>C (n.*3314T>C)
c.2688T>C (p.Asp896=)
c.3465T>C (p.Asp1155=)
c.3353T>C (p.Met1118Thr)
n.3434T>C
c.3129T>C (p.Asp1043=)
c.3540T>C (p.Asp1180=)
c.*3182T>C (n.*3182T>C)
n.3565T>C
c.151+6781T>C (n.151+6781T>C)
c.685T>C (n.685T>C)
c.996T>C (p.Asp332=)
c.3462T>C (p.Asp1154=)
c.656-749T>C (n.656-749T>C)
c.3393T>C (p.Asp1131=)
c.3456T>C (p.Asp1152=)
c.3444T>C (p.Asp1148=)
2g.144389631A>TCA348699244ZEB2c.*3314T>A (n.*3314T>A)
c.2688T>A (p.Asp896Glu)
c.3465T>A (p.Asp1155Glu)
c.3353T>A (p.Met1118Lys)
n.3434T>A
c.3129T>A (p.Asp1043Glu)
c.3540T>A (p.Asp1180Glu)
c.*3182T>A (n.*3182T>A)
n.3565T>A
c.151+6781T>A (n.151+6781T>A)
c.685T>A (n.685T>A)
c.996T>A (p.Asp332Glu)
c.3462T>A (p.Asp1154Glu)
c.656-749T>A (n.656-749T>A)
c.3393T>A (p.Asp1131Glu)
c.3456T>A (p.Asp1152Glu)
c.3444T>A (p.Asp1148Glu)
2g.144389632T>ACA348699245ZEB2c.*3313A>T (n.*3313A>T)
c.2687A>T (p.Asp896Val)
c.3464A>T (p.Asp1155Val)
c.3352A>T (p.Met1118Leu)
n.3433A>T
c.3128A>T (p.Asp1043Val)
c.3539A>T (p.Asp1180Val)
c.*3181A>T (n.*3181A>T)
n.3564A>T
c.151+6780A>T (n.151+6780A>T)
c.684A>T (n.684A>T)
c.995A>T (p.Asp332Val)
c.3461A>T (p.Asp1154Val)
c.656-750A>T (n.656-750A>T)
c.3392A>T (p.Asp1131Val)
c.3455A>T (p.Asp1152Val)
c.3443A>T (p.Asp1148Val)
 gnomAD v4
2g.144389632T>CCA348699246ZEB2c.*3313A>G (n.*3313A>G)
c.2687A>G (p.Asp896Gly)
c.3464A>G (p.Asp1155Gly)
c.3352A>G (p.Met1118Val)
n.3433A>G
c.3128A>G (p.Asp1043Gly)
c.3539A>G (p.Asp1180Gly)
c.*3181A>G (n.*3181A>G)
n.3564A>G
c.151+6780A>G (n.151+6780A>G)
c.684A>G (n.684A>G)
c.995A>G (p.Asp332Gly)
c.3461A>G (p.Asp1154Gly)
c.656-750A>G (n.656-750A>G)
c.3392A>G (p.Asp1131Gly)
c.3455A>G (p.Asp1152Gly)
c.3443A>G (p.Asp1148Gly)
2g.144389632T>GCA348699247ZEB2c.*3313A>C (n.*3313A>C)
c.2687A>C (p.Asp896Ala)
c.3464A>C (p.Asp1155Ala)
c.3352A>C (p.Met1118Leu)
n.3433A>C
c.3128A>C (p.Asp1043Ala)
c.3539A>C (p.Asp1180Ala)
c.*3181A>C (n.*3181A>C)
n.3564A>C
c.151+6780A>C (n.151+6780A>C)
c.684A>C (n.684A>C)
c.995A>C (p.Asp332Ala)
c.3461A>C (p.Asp1154Ala)
c.656-750A>C (n.656-750A>C)
c.3392A>C (p.Asp1131Ala)
c.3455A>C (p.Asp1152Ala)
c.3443A>C (p.Asp1148Ala)
 gnomAD v4
2g.144389633C>ACA1898112ZEB2c.*3312G>T (n.*3312G>T)
c.2686G>T (p.Asp896Tyr)
c.3463G>T (p.Asp1155Tyr)
c.3351G>T (p.Arg1117Ser)
n.3432G>T
c.3127G>T (p.Asp1043Tyr)
c.3538G>T (p.Asp1180Tyr)
c.*3180G>T (n.*3180G>T)
n.3563G>T
c.151+6779G>T (n.151+6779G>T)
c.683G>T (n.683G>T)
c.994G>T (p.Asp332Tyr)
c.3460G>T (p.Asp1154Tyr)
c.656-751G>T (n.656-751G>T)
c.3391G>T (p.Asp1131Tyr)
c.3454G>T (p.Asp1152Tyr)
c.3442G>T (p.Asp1148Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389633C=CA1294881276ZEB2c.*3312G= (n.*3312G=)
c.2686G= (p.Asp896=)
c.3463G= (p.Asp1155=)
c.3351G= (p.Arg1117=)
n.3432G=
c.3127G= (p.Asp1043=)
c.3538G= (p.Asp1180=)
c.*3180G= (n.*3180G=)
n.3563G=
c.151+6779G= (n.151+6779G=)
c.683G= (n.683G=)
c.994G= (p.Asp332=)
c.3460G= (p.Asp1154=)
c.656-751G= (n.656-751G=)
c.3391G= (p.Asp1131=)
c.3454G= (p.Asp1152=)
c.3442G= (p.Asp1148=)
2g.144389633C>GCA348699248ZEB2c.*3312G>C (n.*3312G>C)
c.2686G>C (p.Asp896His)
c.3463G>C (p.Asp1155His)
c.3351G>C (p.Arg1117Ser)
n.3432G>C
c.3127G>C (p.Asp1043His)
c.3538G>C (p.Asp1180His)
c.*3180G>C (n.*3180G>C)
n.3563G>C
c.151+6779G>C (n.151+6779G>C)
c.683G>C (n.683G>C)
c.994G>C (p.Asp332His)
c.3460G>C (p.Asp1154His)
c.656-751G>C (n.656-751G>C)
c.3391G>C (p.Asp1131His)
c.3454G>C (p.Asp1152His)
c.3442G>C (p.Asp1148His)
 gnomAD v4
2g.144389633C>TCA348699249ZEB2c.*3312G>A (n.*3312G>A)
c.2686G>A (p.Asp896Asn)
c.3463G>A (p.Asp1155Asn)
c.3351G>A (p.Arg1117=)
n.3432G>A
c.3127G>A (p.Asp1043Asn)
c.3538G>A (p.Asp1180Asn)
c.*3180G>A (n.*3180G>A)
n.3563G>A
c.151+6779G>A (n.151+6779G>A)
c.683G>A (n.683G>A)
c.994G>A (p.Asp332Asn)
c.3460G>A (p.Asp1154Asn)
c.656-751G>A (n.656-751G>A)
c.3391G>A (p.Asp1131Asn)
c.3454G>A (p.Asp1152Asn)
c.3442G>A (p.Asp1148Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389634C>ACA348699250ZEB2c.*3311G>T (n.*3311G>T)
c.2685G>T (p.Gln895His)
c.3462G>T (p.Gln1154His)
c.3350G>T (p.Arg1117Met)
n.3431G>T
c.3126G>T (p.Gln1042His)
c.3537G>T (p.Gln1179His)
c.*3179G>T (n.*3179G>T)
n.3562G>T
c.151+6778G>T (n.151+6778G>T)
c.682G>T (n.682G>T)
c.993G>T (p.Gln331His)
c.3459G>T (p.Gln1153His)
c.656-752G>T (n.656-752G>T)
c.3390G>T (p.Gln1130His)
c.3453G>T (p.Gln1151His)
c.3441G>T (p.Gln1147His)
2g.144389634C>GCA348699251ZEB2c.*3311G>C (n.*3311G>C)
c.2685G>C (p.Gln895His)
c.3462G>C (p.Gln1154His)
c.3350G>C (p.Arg1117Thr)
n.3431G>C
c.3126G>C (p.Gln1042His)
c.3537G>C (p.Gln1179His)
c.*3179G>C (n.*3179G>C)
n.3562G>C
c.151+6778G>C (n.151+6778G>C)
c.682G>C (n.682G>C)
c.993G>C (p.Gln331His)
c.3459G>C (p.Gln1153His)
c.656-752G>C (n.656-752G>C)
c.3390G>C (p.Gln1130His)
c.3453G>C (p.Gln1151His)
c.3441G>C (p.Gln1147His)
2g.144389634C>TCA429441109ZEB2c.*3311G>A (n.*3311G>A)
c.2685G>A (p.Gln895=)
c.3462G>A (p.Gln1154=)
c.3350G>A (p.Arg1117Lys)
n.3431G>A
c.3126G>A (p.Gln1042=)
c.3537G>A (p.Gln1179=)
c.*3179G>A (n.*3179G>A)
n.3562G>A
c.151+6778G>A (n.151+6778G>A)
c.682G>A (n.682G>A)
c.993G>A (p.Gln331=)
c.3459G>A (p.Gln1153=)
c.656-752G>A (n.656-752G>A)
c.3390G>A (p.Gln1130=)
c.3453G>A (p.Gln1151=)
c.3441G>A (p.Gln1147=)
 gnomAD v4
2g.144389634_144389636delCA2517152789ZEB2c.*3309_*3311del (n.*3309_*3311del)
c.2683_2685del (p.Gln895del)
c.3460_3462del (p.Gln1154del)
c.3348_3350del (p.Asp1116_Arg1117delinsGlu)
n.3429_3431del
c.3124_3126del (p.Gln1042del)
c.3535_3537del (p.Gln1179del)
c.*3177_*3179del (n.*3177_*3179del)
n.3560_3562del
c.151+6776_151+6778del (n.151+6776_151+6778del)
c.680_682del (n.680_682del)
c.991_993del (p.Gln331del)
c.3457_3459del (p.Gln1153del)
c.656-754_656-752del (n.656-754_656-752del)
c.3388_3390del (p.Gln1130del)
c.3451_3453del (p.Gln1151del)
c.3439_3441del (p.Gln1147del)
2g.144389635T>ACA348699252ZEB2c.*3310A>T (n.*3310A>T)
c.2684A>T (p.Gln895Leu)
c.3461A>T (p.Gln1154Leu)
c.3349A>T (p.Arg1117Trp)
n.3430A>T
c.3125A>T (p.Gln1042Leu)
c.3536A>T (p.Gln1179Leu)
c.*3178A>T (n.*3178A>T)
n.3561A>T
c.151+6777A>T (n.151+6777A>T)
c.681A>T (n.681A>T)
c.992A>T (p.Gln331Leu)
c.3458A>T (p.Gln1153Leu)
c.656-753A>T (n.656-753A>T)
c.3389A>T (p.Gln1130Leu)
c.3452A>T (p.Gln1151Leu)
c.3440A>T (p.Gln1147Leu)
2g.144389635T>CCA348699253ZEB2c.*3310A>G (n.*3310A>G)
c.2684A>G (p.Gln895Arg)
c.3461A>G (p.Gln1154Arg)
c.3349A>G (p.Arg1117Gly)
n.3430A>G
c.3125A>G (p.Gln1042Arg)
c.3536A>G (p.Gln1179Arg)
c.*3178A>G (n.*3178A>G)
n.3561A>G
c.151+6777A>G (n.151+6777A>G)
c.681A>G (n.681A>G)
c.992A>G (p.Gln331Arg)
c.3458A>G (p.Gln1153Arg)
c.656-753A>G (n.656-753A>G)
c.3389A>G (p.Gln1130Arg)
c.3452A>G (p.Gln1151Arg)
c.3440A>G (p.Gln1147Arg)
 dbSNP gnomAD v4
2g.144389635T>GCA348699254ZEB2c.*3310A>C (n.*3310A>C)
c.2684A>C (p.Gln895Pro)
c.3461A>C (p.Gln1154Pro)
c.3349A>C (p.Arg1117=)
n.3430A>C
c.3125A>C (p.Gln1042Pro)
c.3536A>C (p.Gln1179Pro)
c.*3178A>C (n.*3178A>C)
n.3561A>C
c.151+6777A>C (n.151+6777A>C)
c.681A>C (n.681A>C)
c.992A>C (p.Gln331Pro)
c.3458A>C (p.Gln1153Pro)
c.656-753A>C (n.656-753A>C)
c.3389A>C (p.Gln1130Pro)
c.3452A>C (p.Gln1151Pro)
c.3440A>C (p.Gln1147Pro)
2g.144389635T=CA1294881277ZEB2c.*3310A= (n.*3310A=)
c.2684A= (p.Gln895=)
c.3461A= (p.Gln1154=)
c.3349A= (p.Arg1117=)
n.3430A=
c.3125A= (p.Gln1042=)
c.3536A= (p.Gln1179=)
c.*3178A= (n.*3178A=)
n.3561A=
c.151+6777A= (n.151+6777A=)
c.681A= (n.681A=)
c.992A= (p.Gln331=)
c.3458A= (p.Gln1153=)
c.656-753A= (n.656-753A=)
c.3389A= (p.Gln1130=)
c.3452A= (p.Gln1151=)
c.3440A= (p.Gln1147=)
2g.144389636G>ACA348699256ZEB2c.*3309C>T (n.*3309C>T)
c.2683C>T (p.Gln895Ter)
c.3460C>T (p.Gln1154Ter)
c.3348C>T (p.Asp1116=)
n.3429C>T
c.3124C>T (p.Gln1042Ter)
c.3535C>T (p.Gln1179Ter)
c.*3177C>T (n.*3177C>T)
n.3560C>T
c.151+6776C>T (n.151+6776C>T)
c.680C>T (n.680C>T)
c.991C>T (p.Gln331Ter)
c.3457C>T (p.Gln1153Ter)
c.656-754C>T (n.656-754C>T)
c.3388C>T (p.Gln1130Ter)
c.3451C>T (p.Gln1151Ter)
c.3439C>T (p.Gln1147Ter)
2g.144389636G>CCA348699257ZEB2c.*3309C>G (n.*3309C>G)
c.2683C>G (p.Gln895Glu)
c.3460C>G (p.Gln1154Glu)
c.3348C>G (p.Asp1116Glu)
n.3429C>G
c.3124C>G (p.Gln1042Glu)
c.3535C>G (p.Gln1179Glu)
c.*3177C>G (n.*3177C>G)
n.3560C>G
c.151+6776C>G (n.151+6776C>G)
c.680C>G (n.680C>G)
c.991C>G (p.Gln331Glu)
c.3457C>G (p.Gln1153Glu)
c.656-754C>G (n.656-754C>G)
c.3388C>G (p.Gln1130Glu)
c.3451C>G (p.Gln1151Glu)
c.3439C>G (p.Gln1147Glu)
2g.144389636G>TCA348699255ZEB2c.*3309C>A (n.*3309C>A)
c.2683C>A (p.Gln895Lys)
c.3460C>A (p.Gln1154Lys)
c.3348C>A (p.Asp1116Glu)
n.3429C>A
c.3124C>A (p.Gln1042Lys)
c.3535C>A (p.Gln1179Lys)
c.*3177C>A (n.*3177C>A)
n.3560C>A
c.151+6776C>A (n.151+6776C>A)
c.680C>A (n.680C>A)
c.991C>A (p.Gln331Lys)
c.3457C>A (p.Gln1153Lys)
c.656-754C>A (n.656-754C>A)
c.3388C>A (p.Gln1130Lys)
c.3451C>A (p.Gln1151Lys)
c.3439C>A (p.Gln1147Lys)
2g.144389637T>ACA348699258ZEB2c.*3308A>T (n.*3308A>T)
c.2682A>T (p.Arg894Ser)
c.3459A>T (p.Arg1153Ser)
c.3347A>T (p.Asp1116Val)
n.3428A>T
c.3123A>T (p.Arg1041Ser)
c.3534A>T (p.Arg1178Ser)
c.*3176A>T (n.*3176A>T)
n.3559A>T
c.151+6775A>T (n.151+6775A>T)
c.679A>T (n.679A>T)
c.990A>T (p.Arg330Ser)
c.3456A>T (p.Arg1152Ser)
c.656-755A>T (n.656-755A>T)
c.3387A>T (p.Arg1129Ser)
c.3450A>T (p.Arg1150Ser)
c.3438A>T (p.Arg1146Ser)
2g.144389637T>CCA429441122ZEB2c.*3308A>G (n.*3308A>G)
c.2682A>G (p.Arg894=)
c.3459A>G (p.Arg1153=)
c.3347A>G (p.Asp1116Gly)
n.3428A>G
c.3123A>G (p.Arg1041=)
c.3534A>G (p.Arg1178=)
c.*3176A>G (n.*3176A>G)
n.3559A>G
c.151+6775A>G (n.151+6775A>G)
c.679A>G (n.679A>G)
c.990A>G (p.Arg330=)
c.3456A>G (p.Arg1152=)
c.656-755A>G (n.656-755A>G)
c.3387A>G (p.Arg1129=)
c.3450A>G (p.Arg1150=)
c.3438A>G (p.Arg1146=)
 ClinVar dbSNP
2g.144389637T>GCA348699259ZEB2c.*3308A>C (n.*3308A>C)
c.2682A>C (p.Arg894Ser)
c.3459A>C (p.Arg1153Ser)
c.3347A>C (p.Asp1116Ala)
n.3428A>C
c.3123A>C (p.Arg1041Ser)
c.3534A>C (p.Arg1178Ser)
c.*3176A>C (n.*3176A>C)
n.3559A>C
c.151+6775A>C (n.151+6775A>C)
c.679A>C (n.679A>C)
c.990A>C (p.Arg330Ser)
c.3456A>C (p.Arg1152Ser)
c.656-755A>C (n.656-755A>C)
c.3387A>C (p.Arg1129Ser)
c.3450A>C (p.Arg1150Ser)
c.3438A>C (p.Arg1146Ser)
2g.144389637T=CA1294881278ZEB2c.*3308A= (n.*3308A=)
c.2682A= (p.Arg894=)
c.3459A= (p.Arg1153=)
c.3347A= (p.Asp1116=)
n.3428A=
c.3123A= (p.Arg1041=)
c.3534A= (p.Arg1178=)
c.*3176A= (n.*3176A=)
n.3559A=
c.151+6775A= (n.151+6775A=)
c.679A= (n.679A=)
c.990A= (p.Arg330=)
c.3456A= (p.Arg1152=)
c.656-755A= (n.656-755A=)
c.3387A= (p.Arg1129=)
c.3450A= (p.Arg1150=)
c.3438A= (p.Arg1146=)
2g.144389638C>ACA348699260ZEB2c.*3307G>T (n.*3307G>T)
c.2681G>T (p.Arg894Ile)
c.3458G>T (p.Arg1153Ile)
c.3346G>T (p.Asp1116Tyr)
n.3427G>T
c.3122G>T (p.Arg1041Ile)
c.3533G>T (p.Arg1178Ile)
c.*3175G>T (n.*3175G>T)
n.3558G>T
c.151+6774G>T (n.151+6774G>T)
c.678G>T (n.678G>T)
c.989G>T (p.Arg330Ile)
c.3455G>T (p.Arg1152Ile)
c.656-756G>T (n.656-756G>T)
c.3386G>T (p.Arg1129Ile)
c.3449G>T (p.Arg1150Ile)
c.3437G>T (p.Arg1146Ile)
2g.144389638C>GCA348699261ZEB2c.*3307G>C (n.*3307G>C)
c.2681G>C (p.Arg894Thr)
c.3458G>C (p.Arg1153Thr)
c.3346G>C (p.Asp1116His)
n.3427G>C
c.3122G>C (p.Arg1041Thr)
c.3533G>C (p.Arg1178Thr)
c.*3175G>C (n.*3175G>C)
n.3558G>C
c.151+6774G>C (n.151+6774G>C)
c.678G>C (n.678G>C)
c.989G>C (p.Arg330Thr)
c.3455G>C (p.Arg1152Thr)
c.656-756G>C (n.656-756G>C)
c.3386G>C (p.Arg1129Thr)
c.3449G>C (p.Arg1150Thr)
c.3437G>C (p.Arg1146Thr)
2g.144389638C>TCA348699262ZEB2c.*3307G>A (n.*3307G>A)
c.2681G>A (p.Arg894Lys)
c.3458G>A (p.Arg1153Lys)
c.3346G>A (p.Asp1116Asn)
n.3427G>A
c.3122G>A (p.Arg1041Lys)
c.3533G>A (p.Arg1178Lys)
c.*3175G>A (n.*3175G>A)
n.3558G>A
c.151+6774G>A (n.151+6774G>A)
c.678G>A (n.678G>A)
c.989G>A (p.Arg330Lys)
c.3455G>A (p.Arg1152Lys)
c.656-756G>A (n.656-756G>A)
c.3386G>A (p.Arg1129Lys)
c.3449G>A (p.Arg1150Lys)
c.3437G>A (p.Arg1146Lys)
2g.144389639T>ACA348699263ZEB2c.*3306A>T (n.*3306A>T)
c.2680A>T (p.Arg894Ter)
c.3457A>T (p.Arg1153Ter)
c.3345A>T (p.Ala1115=)
n.3426A>T
c.3121A>T (p.Arg1041Ter)
c.3532A>T (p.Arg1178Ter)
c.*3174A>T (n.*3174A>T)
n.3557A>T
c.151+6773A>T (n.151+6773A>T)
c.677A>T (n.677A>T)
c.988A>T (p.Arg330Ter)
c.3454A>T (p.Arg1152Ter)
c.656-757A>T (n.656-757A>T)
c.3385A>T (p.Arg1129Ter)
c.3448A>T (p.Arg1150Ter)
c.3436A>T (p.Arg1146Ter)
2g.144389639T>CCA348699264ZEB2c.*3306A>G (n.*3306A>G)
c.2680A>G (p.Arg894Gly)
c.3457A>G (p.Arg1153Gly)
c.3345A>G (p.Ala1115=)
n.3426A>G
c.3121A>G (p.Arg1041Gly)
c.3532A>G (p.Arg1178Gly)
c.*3174A>G (n.*3174A>G)
n.3557A>G
c.151+6773A>G (n.151+6773A>G)
c.677A>G (n.677A>G)
c.988A>G (p.Arg330Gly)
c.3454A>G (p.Arg1152Gly)
c.656-757A>G (n.656-757A>G)
c.3385A>G (p.Arg1129Gly)
c.3448A>G (p.Arg1150Gly)
c.3436A>G (p.Arg1146Gly)
 gnomAD v4
2g.144389639T>GCA429441123ZEB2c.*3306A>C (n.*3306A>C)
c.2680A>C (p.Arg894=)
c.3457A>C (p.Arg1153=)
c.3345A>C (p.Ala1115=)
n.3426A>C
c.3121A>C (p.Arg1041=)
c.3532A>C (p.Arg1178=)
c.*3174A>C (n.*3174A>C)
n.3557A>C
c.151+6773A>C (n.151+6773A>C)
c.677A>C (n.677A>C)
c.988A>C (p.Arg330=)
c.3454A>C (p.Arg1152=)
c.656-757A>C (n.656-757A>C)
c.3385A>C (p.Arg1129=)
c.3448A>C (p.Arg1150=)
c.3436A>C (p.Arg1146=)
2g.144389640G>ACA429441124ZEB2c.*3305C>T (n.*3305C>T)
c.2679C>T (p.Gly893=)
c.3456C>T (p.Gly1152=)
c.3344C>T (p.Ala1115Val)
n.3425C>T
c.3120C>T (p.Gly1040=)
c.3531C>T (p.Gly1177=)
c.*3173C>T (n.*3173C>T)
n.3556C>T
c.151+6772C>T (n.151+6772C>T)
c.676C>T (n.676C>T)
c.987C>T (p.Gly329=)
c.3453C>T (p.Gly1151=)
c.656-758C>T (n.656-758C>T)
c.3384C>T (p.Gly1128=)
c.3447C>T (p.Gly1149=)
c.3435C>T (p.Gly1145=)
2g.144389640G>CCA429441125ZEB2c.*3305C>G (n.*3305C>G)
c.2679C>G (p.Gly893=)
c.3456C>G (p.Gly1152=)
c.3344C>G (p.Ala1115Gly)
n.3425C>G
c.3120C>G (p.Gly1040=)
c.3531C>G (p.Gly1177=)
c.*3173C>G (n.*3173C>G)
n.3556C>G
c.151+6772C>G (n.151+6772C>G)
c.676C>G (n.676C>G)
c.987C>G (p.Gly329=)
c.3453C>G (p.Gly1151=)
c.656-758C>G (n.656-758C>G)
c.3384C>G (p.Gly1128=)
c.3447C>G (p.Gly1149=)
c.3435C>G (p.Gly1145=)
2g.144389640G>TCA429441126ZEB2c.*3305C>A (n.*3305C>A)
c.2679C>A (p.Gly893=)
c.3456C>A (p.Gly1152=)
c.3344C>A (p.Ala1115Glu)
n.3425C>A
c.3120C>A (p.Gly1040=)
c.3531C>A (p.Gly1177=)
c.*3173C>A (n.*3173C>A)
n.3556C>A
c.151+6772C>A (n.151+6772C>A)
c.676C>A (n.676C>A)
c.987C>A (p.Gly329=)
c.3453C>A (p.Gly1151=)
c.656-758C>A (n.656-758C>A)
c.3384C>A (p.Gly1128=)
c.3447C>A (p.Gly1149=)
c.3435C>A (p.Gly1145=)
 gnomAD v4
2g.144389641C>ACA348699265ZEB2c.*3304G>T (n.*3304G>T)
c.2678G>T (p.Gly893Val)
c.3455G>T (p.Gly1152Val)
c.3343G>T (p.Ala1115Ser)
n.3424G>T
c.3119G>T (p.Gly1040Val)
c.3530G>T (p.Gly1177Val)
c.*3172G>T (n.*3172G>T)
n.3555G>T
c.151+6771G>T (n.151+6771G>T)
c.675G>T (n.675G>T)
c.986G>T (p.Gly329Val)
c.3452G>T (p.Gly1151Val)
c.656-759G>T (n.656-759G>T)
c.3383G>T (p.Gly1128Val)
c.3446G>T (p.Gly1149Val)
c.3434G>T (p.Gly1145Val)
2g.144389641C=CA1294881279ZEB2c.*3304G= (n.*3304G=)
c.2678G= (p.Gly893=)
c.3455G= (p.Gly1152=)
c.3343G= (p.Ala1115=)
n.3424G=
c.3119G= (p.Gly1040=)
c.3530G= (p.Gly1177=)
c.*3172G= (n.*3172G=)
n.3555G=
c.151+6771G= (n.151+6771G=)
c.675G= (n.675G=)
c.986G= (p.Gly329=)
c.3452G= (p.Gly1151=)
c.656-759G= (n.656-759G=)
c.3383G= (p.Gly1128=)
c.3446G= (p.Gly1149=)
c.3434G= (p.Gly1145=)
2g.144389641C>GCA348699266ZEB2c.*3304G>C (n.*3304G>C)
c.2678G>C (p.Gly893Ala)
c.3455G>C (p.Gly1152Ala)
c.3343G>C (p.Ala1115Pro)
n.3424G>C
c.3119G>C (p.Gly1040Ala)
c.3530G>C (p.Gly1177Ala)
c.*3172G>C (n.*3172G>C)
n.3555G>C
c.151+6771G>C (n.151+6771G>C)
c.675G>C (n.675G>C)
c.986G>C (p.Gly329Ala)
c.3452G>C (p.Gly1151Ala)
c.656-759G>C (n.656-759G>C)
c.3383G>C (p.Gly1128Ala)
c.3446G>C (p.Gly1149Ala)
c.3434G>C (p.Gly1145Ala)
2g.144389641C>TCA1898113ZEB2c.*3304G>A (n.*3304G>A)
c.2678G>A (p.Gly893Asp)
c.3455G>A (p.Gly1152Asp)
c.3343G>A (p.Ala1115Thr)
n.3424G>A
c.3119G>A (p.Gly1040Asp)
c.3530G>A (p.Gly1177Asp)
c.*3172G>A (n.*3172G>A)
n.3555G>A
c.151+6771G>A (n.151+6771G>A)
c.675G>A (n.675G>A)
c.986G>A (p.Gly329Asp)
c.3452G>A (p.Gly1151Asp)
c.656-759G>A (n.656-759G>A)
c.3383G>A (p.Gly1128Asp)
c.3446G>A (p.Gly1149Asp)
c.3434G>A (p.Gly1145Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389642C>ACA348699267ZEB2c.*3303G>T (n.*3303G>T)
c.2677G>T (p.Gly893Cys)
c.3454G>T (p.Gly1152Cys)
c.3342G>T (p.Trp1114Cys)
n.3423G>T
c.3118G>T (p.Gly1040Cys)
c.3529G>T (p.Gly1177Cys)
c.*3171G>T (n.*3171G>T)
n.3554G>T
c.151+6770G>T (n.151+6770G>T)
c.674G>T (n.674G>T)
c.985G>T (p.Gly329Cys)
c.3451G>T (p.Gly1151Cys)
c.656-760G>T (n.656-760G>T)
c.3382G>T (p.Gly1128Cys)
c.3445G>T (p.Gly1149Cys)
c.3433G>T (p.Gly1145Cys)
2g.144389642C=CA1294881280ZEB2c.*3303G= (n.*3303G=)
c.2677G= (p.Gly893=)
c.3454G= (p.Gly1152=)
c.3342G= (p.Trp1114=)
n.3423G=
c.3118G= (p.Gly1040=)
c.3529G= (p.Gly1177=)
c.*3171G= (n.*3171G=)
n.3554G=
c.151+6770G= (n.151+6770G=)
c.674G= (n.674G=)
c.985G= (p.Gly329=)
c.3451G= (p.Gly1151=)
c.656-760G= (n.656-760G=)
c.3382G= (p.Gly1128=)
c.3445G= (p.Gly1149=)
c.3433G= (p.Gly1145=)
2g.144389642C>GCA348699268ZEB2c.*3303G>C (n.*3303G>C)
c.2677G>C (p.Gly893Arg)
c.3454G>C (p.Gly1152Arg)
c.3342G>C (p.Trp1114Cys)
n.3423G>C
c.3118G>C (p.Gly1040Arg)
c.3529G>C (p.Gly1177Arg)
c.*3171G>C (n.*3171G>C)
n.3554G>C
c.151+6770G>C (n.151+6770G>C)
c.674G>C (n.674G>C)
c.985G>C (p.Gly329Arg)
c.3451G>C (p.Gly1151Arg)
c.656-760G>C (n.656-760G>C)
c.3382G>C (p.Gly1128Arg)
c.3445G>C (p.Gly1149Arg)
c.3433G>C (p.Gly1145Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144389642C>TCA348699269ZEB2c.*3303G>A (n.*3303G>A)
c.2677G>A (p.Gly893Ser)
c.3454G>A (p.Gly1152Ser)
c.3342G>A (p.Trp1114Ter)
n.3423G>A
c.3118G>A (p.Gly1040Ser)
c.3529G>A (p.Gly1177Ser)
c.*3171G>A (n.*3171G>A)
n.3554G>A
c.151+6770G>A (n.151+6770G>A)
c.674G>A (n.674G>A)
c.985G>A (p.Gly329Ser)
c.3451G>A (p.Gly1151Ser)
c.656-760G>A (n.656-760G>A)
c.3382G>A (p.Gly1128Ser)
c.3445G>A (p.Gly1149Ser)
c.3433G>A (p.Gly1145Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.144389643C>ACA429441127ZEB2c.*3302G>T (n.*3302G>T)
c.2676G>T (p.Leu892=)
c.3453G>T (p.Leu1151=)
c.3341G>T (p.Trp1114Leu)
n.3422G>T
c.3117G>T (p.Leu1039=)
c.3528G>T (p.Leu1176=)
c.*3170G>T (n.*3170G>T)
n.3553G>T
c.151+6769G>T (n.151+6769G>T)
c.673G>T (n.673G>T)
c.984G>T (p.Leu328=)
c.3450G>T (p.Leu1150=)
c.656-761G>T (n.656-761G>T)
c.3381G>T (p.Leu1127=)
c.3444G>T (p.Leu1148=)
c.3432G>T (p.Leu1144=)
2g.144389643C>GCA429441128ZEB2c.*3302G>C (n.*3302G>C)
c.2676G>C (p.Leu892=)
c.3453G>C (p.Leu1151=)
c.3341G>C (p.Trp1114Ser)
n.3422G>C
c.3117G>C (p.Leu1039=)
c.3528G>C (p.Leu1176=)
c.*3170G>C (n.*3170G>C)
n.3553G>C
c.151+6769G>C (n.151+6769G>C)
c.673G>C (n.673G>C)
c.984G>C (p.Leu328=)
c.3450G>C (p.Leu1150=)
c.656-761G>C (n.656-761G>C)
c.3381G>C (p.Leu1127=)
c.3444G>C (p.Leu1148=)
c.3432G>C (p.Leu1144=)
2g.144389643C>TCA429441129ZEB2c.*3302G>A (n.*3302G>A)
c.2676G>A (p.Leu892=)
c.3453G>A (p.Leu1151=)
c.3341G>A (p.Trp1114Ter)
n.3422G>A
c.3117G>A (p.Leu1039=)
c.3528G>A (p.Leu1176=)
c.*3170G>A (n.*3170G>A)
n.3553G>A
c.151+6769G>A (n.151+6769G>A)
c.673G>A (n.673G>A)
c.984G>A (p.Leu328=)
c.3450G>A (p.Leu1150=)
c.656-761G>A (n.656-761G>A)
c.3381G>A (p.Leu1127=)
c.3444G>A (p.Leu1148=)
c.3432G>A (p.Leu1144=)
 ClinVar
2g.144389644_144389645insACCCCCCAAACACACCCAACACACA2752520878ZEB2c.*3302_*3303insTGTTGGGTGTGTTTGGGGGGTTG (n.*3302_*3303insTGTTGGGTGTGTTTGGGGGGTTG)
c.2676_2677insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly893CysfsTer?)
c.3453_3454insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1152CysfsTer?)
c.3341_3342insTGTTGGGTGTGTTTGGGGGGTTG (p.Trp1114CysfsTer25)
n.3422_3423insTGTTGGGTGTGTTTGGGGGGTTG
c.3117_3118insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1040CysfsTer?)
c.3528_3529insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1177CysfsTer?)
c.*3170_*3171insTGTTGGGTGTGTTTGGGGGGTTG (n.*3170_*3171insTGTTGGGTGTGTTTGGGGGGTTG)
n.3553_3554insTGTTGGGTGTGTTTGGGGGGTTG
c.151+6769_151+6770insTGTTGGGTGTGTTTGGGGGGTTG (n.151+6769_151+6770insTGTTGGGTGTGTTTGGGGGGTTG)
c.673_674insTGTTGGGTGTGTTTGGGGGGTTG (n.673_674insTGTTGGGTGTGTTTGGGGGGTTG)
c.984_985insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly329CysfsTer?)
c.3450_3451insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1151CysfsTer?)
c.656-761_656-760insTGTTGGGTGTGTTTGGGGGGTTG (n.656-761_656-760insTGTTGGGTGTGTTTGGGGGGTTG)
c.3381_3382insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1128CysfsTer?)
c.3444_3445insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1149CysfsTer?)
c.3432_3433insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1145CysfsTer?)
2g.144389644A=CA1294881281ZEB2c.*3301T= (n.*3301T=)
c.2675T= (p.Leu892=)
c.3452T= (p.Leu1151=)
c.3340T= (p.Trp1114=)
n.3421T=
c.3116T= (p.Leu1039=)
c.3527T= (p.Leu1176=)
c.*3169T= (n.*3169T=)
n.3552T=
c.151+6768T= (n.151+6768T=)
c.672T= (n.672T=)
c.983T= (p.Leu328=)
c.3449T= (p.Leu1150=)
c.656-762T= (n.656-762T=)
c.3380T= (p.Leu1127=)
c.3443T= (p.Leu1148=)
c.3431T= (p.Leu1144=)
2g.144389644A>CCA348699272ZEB2c.*3301T>G (n.*3301T>G)
c.2675T>G (p.Leu892Arg)
c.3452T>G (p.Leu1151Arg)
c.3340T>G (p.Trp1114Gly)
n.3421T>G
c.3116T>G (p.Leu1039Arg)
c.3527T>G (p.Leu1176Arg)
c.*3169T>G (n.*3169T>G)
n.3552T>G
c.151+6768T>G (n.151+6768T>G)
c.672T>G (n.672T>G)
c.983T>G (p.Leu328Arg)
c.3449T>G (p.Leu1150Arg)
c.656-762T>G (n.656-762T>G)
c.3380T>G (p.Leu1127Arg)
c.3443T>G (p.Leu1148Arg)
c.3431T>G (p.Leu1144Arg)
 dbSNP
2g.144389644A>GCA348699271ZEB2c.*3301T>C (n.*3301T>C)
c.2675T>C (p.Leu892Pro)
c.3452T>C (p.Leu1151Pro)
c.3340T>C (p.Trp1114Arg)
n.3421T>C
c.3116T>C (p.Leu1039Pro)
c.3527T>C (p.Leu1176Pro)
c.*3169T>C (n.*3169T>C)
n.3552T>C
c.151+6768T>C (n.151+6768T>C)
c.672T>C (n.672T>C)
c.983T>C (p.Leu328Pro)
c.3449T>C (p.Leu1150Pro)
c.656-762T>C (n.656-762T>C)
c.3380T>C (p.Leu1127Pro)
c.3443T>C (p.Leu1148Pro)
c.3431T>C (p.Leu1144Pro)
 ClinVar dbSNP gnomAD v4
2g.144389644A>TCA348699270ZEB2c.*3301T>A (n.*3301T>A)
c.2675T>A (p.Leu892Gln)
c.3452T>A (p.Leu1151Gln)
c.3340T>A (p.Trp1114Arg)
n.3421T>A
c.3116T>A (p.Leu1039Gln)
c.3527T>A (p.Leu1176Gln)
c.*3169T>A (n.*3169T>A)
n.3552T>A
c.151+6768T>A (n.151+6768T>A)
c.672T>A (n.672T>A)
c.983T>A (p.Leu328Gln)
c.3449T>A (p.Leu1150Gln)
c.656-762T>A (n.656-762T>A)
c.3380T>A (p.Leu1127Gln)
c.3443T>A (p.Leu1148Gln)
c.3431T>A (p.Leu1144Gln)
2g.144389645G>ACA429441130ZEB2c.*3300C>T (n.*3300C>T)
c.2674C>T (p.Leu892=)
c.3451C>T (p.Leu1151=)
c.3339C>T (p.Ser1113=)
n.3420C>T
c.3115C>T (p.Leu1039=)
c.3526C>T (p.Leu1176=)
c.*3168C>T (n.*3168C>T)
n.3551C>T
c.151+6767C>T (n.151+6767C>T)
c.671C>T (n.671C>T)
c.982C>T (p.Leu328=)
c.3448C>T (p.Leu1150=)
c.656-763C>T (n.656-763C>T)
c.3379C>T (p.Leu1127=)
c.3442C>T (p.Leu1148=)
c.3430C>T (p.Leu1144=)
 ClinVar dbSNP gnomAD v4
2g.144389645G>CCA348699273ZEB2c.*3300C>G (n.*3300C>G)
c.2674C>G (p.Leu892Val)
c.3451C>G (p.Leu1151Val)
c.3339C>G (p.Ser1113Arg)
n.3420C>G
c.3115C>G (p.Leu1039Val)
c.3526C>G (p.Leu1176Val)
c.*3168C>G (n.*3168C>G)
n.3551C>G
c.151+6767C>G (n.151+6767C>G)
c.671C>G (n.671C>G)
c.982C>G (p.Leu328Val)
c.3448C>G (p.Leu1150Val)
c.656-763C>G (n.656-763C>G)
c.3379C>G (p.Leu1127Val)
c.3442C>G (p.Leu1148Val)
c.3430C>G (p.Leu1144Val)
 ClinVar gnomAD v4
2g.144389645G=CA1294881282ZEB2c.*3300C= (n.*3300C=)
c.2674C= (p.Leu892=)
c.3451C= (p.Leu1151=)
c.3339C= (p.Ser1113=)
n.3420C=
c.3115C= (p.Leu1039=)
c.3526C= (p.Leu1176=)
c.*3168C= (n.*3168C=)
n.3551C=
c.151+6767C= (n.151+6767C=)
c.671C= (n.671C=)
c.982C= (p.Leu328=)
c.3448C= (p.Leu1150=)
c.656-763C= (n.656-763C=)
c.3379C= (p.Leu1127=)
c.3442C= (p.Leu1148=)
c.3430C= (p.Leu1144=)
2g.144389645G>TCA1898114ZEB2c.*3300C>A (n.*3300C>A)
c.2674C>A (p.Leu892Met)
c.3451C>A (p.Leu1151Met)
c.3339C>A (p.Ser1113Arg)
n.3420C>A
c.3115C>A (p.Leu1039Met)
c.3526C>A (p.Leu1176Met)
c.*3168C>A (n.*3168C>A)
n.3551C>A
c.151+6767C>A (n.151+6767C>A)
c.671C>A (n.671C>A)
c.982C>A (p.Leu328Met)
c.3448C>A (p.Leu1150Met)
c.656-763C>A (n.656-763C>A)
c.3379C>A (p.Leu1127Met)
c.3442C>A (p.Leu1148Met)
c.3430C>A (p.Leu1144Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389646C>ACA348699274ZEB2c.*3299G>T (n.*3299G>T)
c.2673G>T (p.Lys891Asn)
c.3450G>T (p.Lys1150Asn)
c.3338G>T (p.Ser1113Ile)
n.3419G>T
c.3114G>T (p.Lys1038Asn)
c.3525G>T (p.Lys1175Asn)
c.*3167G>T (n.*3167G>T)
n.3550G>T
c.151+6766G>T (n.151+6766G>T)
c.670G>T (n.670G>T)
c.981G>T (p.Lys327Asn)
c.3447G>T (p.Lys1149Asn)
c.656-764G>T (n.656-764G>T)
c.3378G>T (p.Lys1126Asn)
c.3441G>T (p.Lys1147Asn)
c.3429G>T (p.Lys1143Asn)
2g.144389646C>GCA348699275ZEB2c.*3299G>C (n.*3299G>C)
c.2673G>C (p.Lys891Asn)
c.3450G>C (p.Lys1150Asn)
c.3338G>C (p.Ser1113Thr)
n.3419G>C
c.3114G>C (p.Lys1038Asn)
c.3525G>C (p.Lys1175Asn)
c.*3167G>C (n.*3167G>C)
n.3550G>C
c.151+6766G>C (n.151+6766G>C)
c.670G>C (n.670G>C)
c.981G>C (p.Lys327Asn)
c.3447G>C (p.Lys1149Asn)
c.656-764G>C (n.656-764G>C)
c.3378G>C (p.Lys1126Asn)
c.3441G>C (p.Lys1147Asn)
c.3429G>C (p.Lys1143Asn)
2g.144389646C>TCA429441131ZEB2c.*3299G>A (n.*3299G>A)
c.2673G>A (p.Lys891=)
c.3450G>A (p.Lys1150=)
c.3338G>A (p.Ser1113Asn)
n.3419G>A
c.3114G>A (p.Lys1038=)
c.3525G>A (p.Lys1175=)
c.*3167G>A (n.*3167G>A)
n.3550G>A
c.151+6766G>A (n.151+6766G>A)
c.670G>A (n.670G>A)
c.981G>A (p.Lys327=)
c.3447G>A (p.Lys1149=)
c.656-764G>A (n.656-764G>A)
c.3378G>A (p.Lys1126=)
c.3441G>A (p.Lys1147=)
c.3429G>A (p.Lys1143=)
2g.144389647T>ACA348699276ZEB2c.*3298A>T (n.*3298A>T)
c.2672A>T (p.Lys891Met)
c.3449A>T (p.Lys1150Met)
c.3337A>T (p.Ser1113Cys)
n.3418A>T
c.3113A>T (p.Lys1038Met)
c.3524A>T (p.Lys1175Met)
c.*3166A>T (n.*3166A>T)
n.3549A>T
c.151+6765A>T (n.151+6765A>T)
c.669A>T (n.669A>T)
c.980A>T (p.Lys327Met)
c.3446A>T (p.Lys1149Met)
c.656-765A>T (n.656-765A>T)
c.3377A>T (p.Lys1126Met)
c.3440A>T (p.Lys1147Met)
c.3428A>T (p.Lys1143Met)
2g.144389647T>CCA348699277ZEB2c.*3298A>G (n.*3298A>G)
c.2672A>G (p.Lys891Arg)
c.3449A>G (p.Lys1150Arg)
c.3337A>G (p.Ser1113Gly)
n.3418A>G
c.3113A>G (p.Lys1038Arg)
c.3524A>G (p.Lys1175Arg)
c.*3166A>G (n.*3166A>G)
n.3549A>G
c.151+6765A>G (n.151+6765A>G)
c.669A>G (n.669A>G)
c.980A>G (p.Lys327Arg)
c.3446A>G (p.Lys1149Arg)
c.656-765A>G (n.656-765A>G)
c.3377A>G (p.Lys1126Arg)
c.3440A>G (p.Lys1147Arg)
c.3428A>G (p.Lys1143Arg)
2g.144389647T>GCA348699278ZEB2c.*3298A>C (n.*3298A>C)
c.2672A>C (p.Lys891Thr)
c.3449A>C (p.Lys1150Thr)
c.3337A>C (p.Ser1113Arg)
n.3418A>C
c.3113A>C (p.Lys1038Thr)
c.3524A>C (p.Lys1175Thr)
c.*3166A>C (n.*3166A>C)
n.3549A>C
c.151+6765A>C (n.151+6765A>C)
c.669A>C (n.669A>C)
c.980A>C (p.Lys327Thr)
c.3446A>C (p.Lys1149Thr)
c.656-765A>C (n.656-765A>C)
c.3377A>C (p.Lys1126Thr)
c.3440A>C (p.Lys1147Thr)
c.3428A>C (p.Lys1143Thr)
2g.144389648T>ACA348699279ZEB2c.*3297A>T (n.*3297A>T)
c.2671A>T (p.Lys891Ter)
c.3448A>T (p.Lys1150Ter)
c.3336A>T (p.Gly1112=)
n.3417A>T
c.3112A>T (p.Lys1038Ter)
c.3523A>T (p.Lys1175Ter)
c.*3165A>T (n.*3165A>T)
n.3548A>T
c.151+6764A>T (n.151+6764A>T)
c.668A>T (n.668A>T)
c.979A>T (p.Lys327Ter)
c.3445A>T (p.Lys1149Ter)
c.656-766A>T (n.656-766A>T)
c.3376A>T (p.Lys1126Ter)
c.3439A>T (p.Lys1147Ter)
c.3427A>T (p.Lys1143Ter)
2g.144389648T>CCA348699280ZEB2c.*3297A>G (n.*3297A>G)
c.2671A>G (p.Lys891Glu)
c.3448A>G (p.Lys1150Glu)
c.3336A>G (p.Gly1112=)
n.3417A>G
c.3112A>G (p.Lys1038Glu)
c.3523A>G (p.Lys1175Glu)
c.*3165A>G (n.*3165A>G)
n.3548A>G
c.151+6764A>G (n.151+6764A>G)
c.668A>G (n.668A>G)
c.979A>G (p.Lys327Glu)
c.3445A>G (p.Lys1149Glu)
c.656-766A>G (n.656-766A>G)
c.3376A>G (p.Lys1126Glu)
c.3439A>G (p.Lys1147Glu)
c.3427A>G (p.Lys1143Glu)
2g.144389648T>GCA348699281ZEB2c.*3297A>C (n.*3297A>C)
c.2671A>C (p.Lys891Gln)
c.3448A>C (p.Lys1150Gln)
c.3336A>C (p.Gly1112=)
n.3417A>C
c.3112A>C (p.Lys1038Gln)
c.3523A>C (p.Lys1175Gln)
c.*3165A>C (n.*3165A>C)
n.3548A>C
c.151+6764A>C (n.151+6764A>C)
c.668A>C (n.668A>C)
c.979A>C (p.Lys327Gln)
c.3445A>C (p.Lys1149Gln)
c.656-766A>C (n.656-766A>C)
c.3376A>C (p.Lys1126Gln)
c.3439A>C (p.Lys1147Gln)
c.3427A>C (p.Lys1143Gln)
2g.144389649C>ACA429441132ZEB2c.*3296G>T (n.*3296G>T)
c.2670G>T (p.Gly890=)
c.3447G>T (p.Gly1149=)
c.3335G>T (p.Gly1112Val)
n.3416G>T
c.3111G>T (p.Gly1037=)
c.3522G>T (p.Gly1174=)
c.*3164G>T (n.*3164G>T)
n.3547G>T
c.151+6763G>T (n.151+6763G>T)
c.667G>T (n.667G>T)
c.978G>T (p.Gly326=)
c.3444G>T (p.Gly1148=)
c.656-767G>T (n.656-767G>T)
c.3375G>T (p.Gly1125=)
c.3438G>T (p.Gly1146=)
c.3426G>T (p.Gly1142=)
2g.144389649C>GCA429441133ZEB2c.*3296G>C (n.*3296G>C)
c.2670G>C (p.Gly890=)
c.3447G>C (p.Gly1149=)
c.3335G>C (p.Gly1112Ala)
n.3416G>C
c.3111G>C (p.Gly1037=)
c.3522G>C (p.Gly1174=)
c.*3164G>C (n.*3164G>C)
n.3547G>C
c.151+6763G>C (n.151+6763G>C)
c.667G>C (n.667G>C)
c.978G>C (p.Gly326=)
c.3444G>C (p.Gly1148=)
c.656-767G>C (n.656-767G>C)
c.3375G>C (p.Gly1125=)
c.3438G>C (p.Gly1146=)
c.3426G>C (p.Gly1142=)
2g.144389649C>TCA429441134ZEB2c.*3296G>A (n.*3296G>A)
c.2670G>A (p.Gly890=)
c.3447G>A (p.Gly1149=)
c.3335G>A (p.Gly1112Glu)
n.3416G>A
c.3111G>A (p.Gly1037=)
c.3522G>A (p.Gly1174=)
c.*3164G>A (n.*3164G>A)
n.3547G>A
c.151+6763G>A (n.151+6763G>A)
c.667G>A (n.667G>A)
c.978G>A (p.Gly326=)
c.3444G>A (p.Gly1148=)
c.656-767G>A (n.656-767G>A)
c.3375G>A (p.Gly1125=)
c.3438G>A (p.Gly1146=)
c.3426G>A (p.Gly1142=)
 gnomAD v3 gnomAD v4
2g.144389650C>ACA348699282ZEB2c.*3295G>T (n.*3295G>T)
c.2669G>T (p.Gly890Val)
c.3446G>T (p.Gly1149Val)
c.3334G>T (p.Gly1112Ter)
n.3415G>T
c.3110G>T (p.Gly1037Val)
c.3521G>T (p.Gly1174Val)
c.*3163G>T (n.*3163G>T)
n.3546G>T
c.151+6762G>T (n.151+6762G>T)
c.666G>T (n.666G>T)
c.977G>T (p.Gly326Val)
c.3443G>T (p.Gly1148Val)
c.656-768G>T (n.656-768G>T)
c.3374G>T (p.Gly1125Val)
c.3437G>T (p.Gly1146Val)
c.3425G>T (p.Gly1142Val)
2g.144389650C>GCA348699283ZEB2c.*3295G>C (n.*3295G>C)
c.2669G>C (p.Gly890Ala)
c.3446G>C (p.Gly1149Ala)
c.3334G>C (p.Gly1112Arg)
n.3415G>C
c.3110G>C (p.Gly1037Ala)
c.3521G>C (p.Gly1174Ala)
c.*3163G>C (n.*3163G>C)
n.3546G>C
c.151+6762G>C (n.151+6762G>C)
c.666G>C (n.666G>C)
c.977G>C (p.Gly326Ala)
c.3443G>C (p.Gly1148Ala)
c.656-768G>C (n.656-768G>C)
c.3374G>C (p.Gly1125Ala)
c.3437G>C (p.Gly1146Ala)
c.3425G>C (p.Gly1142Ala)
2g.144389650C>TCA348699284ZEB2c.*3295G>A (n.*3295G>A)
c.2669G>A (p.Gly890Glu)
c.3446G>A (p.Gly1149Glu)
c.3334G>A (p.Gly1112Arg)
n.3415G>A
c.3110G>A (p.Gly1037Glu)
c.3521G>A (p.Gly1174Glu)
c.*3163G>A (n.*3163G>A)
n.3546G>A
c.151+6762G>A (n.151+6762G>A)
c.666G>A (n.666G>A)
c.977G>A (p.Gly326Glu)
c.3443G>A (p.Gly1148Glu)
c.656-768G>A (n.656-768G>A)
c.3374G>A (p.Gly1125Glu)
c.3437G>A (p.Gly1146Glu)
c.3425G>A (p.Gly1142Glu)
2g.144389651C>ACA348699286ZEB2c.*3294G>T (n.*3294G>T)
c.2668G>T (p.Gly890Trp)
c.3445G>T (p.Gly1149Trp)
c.3333G>T (p.Thr1111=)
n.3414G>T
c.3109G>T (p.Gly1037Trp)
c.3520G>T (p.Gly1174Trp)
c.*3162G>T (n.*3162G>T)
n.3545G>T
c.151+6761G>T (n.151+6761G>T)
c.665G>T (n.665G>T)
c.976G>T (p.Gly326Trp)
c.3442G>T (p.Gly1148Trp)
c.656-769G>T (n.656-769G>T)
c.3373G>T (p.Gly1125Trp)
c.3436G>T (p.Gly1146Trp)
c.3424G>T (p.Gly1142Trp)
2g.144389651C=CA1294881283ZEB2c.*3294G= (n.*3294G=)
c.2668G= (p.Gly890=)
c.3445G= (p.Gly1149=)
c.3333G= (p.Thr1111=)
n.3414G=
c.3109G= (p.Gly1037=)
c.3520G= (p.Gly1174=)
c.*3162G= (n.*3162G=)
n.3545G=
c.151+6761G= (n.151+6761G=)
c.665G= (n.665G=)
c.976G= (p.Gly326=)
c.3442G= (p.Gly1148=)
c.656-769G= (n.656-769G=)
c.3373G= (p.Gly1125=)
c.3436G= (p.Gly1146=)
c.3424G= (p.Gly1142=)
2g.144389651C>GCA348699285ZEB2c.*3294G>C (n.*3294G>C)
c.2668G>C (p.Gly890Arg)
c.3445G>C (p.Gly1149Arg)
c.3333G>C (p.Thr1111=)
n.3414G>C
c.3109G>C (p.Gly1037Arg)
c.3520G>C (p.Gly1174Arg)
c.*3162G>C (n.*3162G>C)
n.3545G>C
c.151+6761G>C (n.151+6761G>C)
c.665G>C (n.665G>C)
c.976G>C (p.Gly326Arg)
c.3442G>C (p.Gly1148Arg)
c.656-769G>C (n.656-769G>C)
c.3373G>C (p.Gly1125Arg)
c.3436G>C (p.Gly1146Arg)
c.3424G>C (p.Gly1142Arg)
2g.144389651C>TCA1898115ZEB2c.*3294G>A (n.*3294G>A)
c.2668G>A (p.Gly890Arg)
c.3445G>A (p.Gly1149Arg)
c.3333G>A (p.Thr1111=)
n.3414G>A
c.3109G>A (p.Gly1037Arg)
c.3520G>A (p.Gly1174Arg)
c.*3162G>A (n.*3162G>A)
n.3545G>A
c.151+6761G>A (n.151+6761G>A)
c.665G>A (n.665G>A)
c.976G>A (p.Gly326Arg)
c.3442G>A (p.Gly1148Arg)
c.656-769G>A (n.656-769G>A)
c.3373G>A (p.Gly1125Arg)
c.3436G>A (p.Gly1146Arg)
c.3424G>A (p.Gly1142Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389652G>ACA272829ZEB2c.*3293C>T (n.*3293C>T)
c.2667C>T (p.Tyr889=)
c.3444C>T (p.Tyr1148=)
c.3332C>T (p.Thr1111Met)
n.3413C>T
c.3108C>T (p.Tyr1036=)
c.3519C>T (p.Tyr1173=)
c.*3161C>T (n.*3161C>T)
n.3544C>T
c.151+6760C>T (n.151+6760C>T)
c.664C>T (n.664C>T)
c.975C>T (p.Tyr325=)
c.3441C>T (p.Tyr1147=)
c.656-770C>T (n.656-770C>T)
c.3372C>T (p.Tyr1124=)
c.3435C>T (p.Tyr1145=)
c.3423C>T (p.Tyr1141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389652G>CCA348699288ZEB2c.*3293C>G (n.*3293C>G)
c.2667C>G (p.Tyr889Ter)
c.3444C>G (p.Tyr1148Ter)
c.3332C>G (p.Thr1111Arg)
n.3413C>G
c.3108C>G (p.Tyr1036Ter)
c.3519C>G (p.Tyr1173Ter)
c.*3161C>G (n.*3161C>G)
n.3544C>G
c.151+6760C>G (n.151+6760C>G)
c.664C>G (n.664C>G)
c.975C>G (p.Tyr325Ter)
c.3441C>G (p.Tyr1147Ter)
c.656-770C>G (n.656-770C>G)
c.3372C>G (p.Tyr1124Ter)
c.3435C>G (p.Tyr1145Ter)
c.3423C>G (p.Tyr1141Ter)
2g.144389652G=CA1294881284ZEB2c.*3293C= (n.*3293C=)
c.2667C= (p.Tyr889=)
c.3444C= (p.Tyr1148=)
c.3332C= (p.Thr1111=)
n.3413C=
c.3108C= (p.Tyr1036=)
c.3519C= (p.Tyr1173=)
c.*3161C= (n.*3161C=)
n.3544C=
c.151+6760C= (n.151+6760C=)
c.664C= (n.664C=)
c.975C= (p.Tyr325=)
c.3441C= (p.Tyr1147=)
c.656-770C= (n.656-770C=)
c.3372C= (p.Tyr1124=)
c.3435C= (p.Tyr1145=)
c.3423C= (p.Tyr1141=)
2g.144389652G>TCA348699287ZEB2c.*3293C>A (n.*3293C>A)
c.2667C>A (p.Tyr889Ter)
c.3444C>A (p.Tyr1148Ter)
c.3332C>A (p.Thr1111Lys)
n.3413C>A
c.3108C>A (p.Tyr1036Ter)
c.3519C>A (p.Tyr1173Ter)
c.*3161C>A (n.*3161C>A)
n.3544C>A
c.151+6760C>A (n.151+6760C>A)
c.664C>A (n.664C>A)
c.975C>A (p.Tyr325Ter)
c.3441C>A (p.Tyr1147Ter)
c.656-770C>A (n.656-770C>A)
c.3372C>A (p.Tyr1124Ter)
c.3435C>A (p.Tyr1145Ter)
c.3423C>A (p.Tyr1141Ter)
2g.144389653T>ACA348699289ZEB2c.*3292A>T (n.*3292A>T)
c.2666A>T (p.Tyr889Phe)
c.3443A>T (p.Tyr1148Phe)
c.3331A>T (p.Thr1111Ser)
n.3412A>T
c.3107A>T (p.Tyr1036Phe)
c.3518A>T (p.Tyr1173Phe)
c.*3160A>T (n.*3160A>T)
n.3543A>T
c.151+6759A>T (n.151+6759A>T)
c.663A>T (n.663A>T)
c.974A>T (p.Tyr325Phe)
c.3440A>T (p.Tyr1147Phe)
c.656-771A>T (n.656-771A>T)
c.3371A>T (p.Tyr1124Phe)
c.3434A>T (p.Tyr1145Phe)
c.3422A>T (p.Tyr1141Phe)
2g.144389653T>CCA348699291ZEB2c.*3292A>G (n.*3292A>G)
c.2666A>G (p.Tyr889Cys)
c.3443A>G (p.Tyr1148Cys)
c.3331A>G (p.Thr1111Ala)
n.3412A>G
c.3107A>G (p.Tyr1036Cys)
c.3518A>G (p.Tyr1173Cys)
c.*3160A>G (n.*3160A>G)
n.3543A>G
c.151+6759A>G (n.151+6759A>G)
c.663A>G (n.663A>G)
c.974A>G (p.Tyr325Cys)
c.3440A>G (p.Tyr1147Cys)
c.656-771A>G (n.656-771A>G)
c.3371A>G (p.Tyr1124Cys)
c.3434A>G (p.Tyr1145Cys)
c.3422A>G (p.Tyr1141Cys)
 gnomAD v4
2g.144389653T>GCA348699290ZEB2c.*3292A>C (n.*3292A>C)
c.2666A>C (p.Tyr889Ser)
c.3443A>C (p.Tyr1148Ser)
c.3331A>C (p.Thr1111Pro)
n.3412A>C
c.3107A>C (p.Tyr1036Ser)
c.3518A>C (p.Tyr1173Ser)
c.*3160A>C (n.*3160A>C)
n.3543A>C
c.151+6759A>C (n.151+6759A>C)
c.663A>C (n.663A>C)
c.974A>C (p.Tyr325Ser)
c.3440A>C (p.Tyr1147Ser)
c.656-771A>C (n.656-771A>C)
c.3371A>C (p.Tyr1124Ser)
c.3434A>C (p.Tyr1145Ser)
c.3422A>C (p.Tyr1141Ser)
2g.144389654A=CA1294881285ZEB2c.*3291T= (n.*3291T=)
c.2665T= (p.Tyr889=)
c.3442T= (p.Tyr1148=)
c.3330T= (p.Ala1110=)
n.3411T=
c.3106T= (p.Tyr1036=)
c.3517T= (p.Tyr1173=)
c.*3159T= (n.*3159T=)
n.3542T=
c.151+6758T= (n.151+6758T=)
c.662T= (n.662T=)
c.973T= (p.Tyr325=)
c.3439T= (p.Tyr1147=)
c.656-772T= (n.656-772T=)
c.3370T= (p.Tyr1124=)
c.3433T= (p.Tyr1145=)
c.3421T= (p.Tyr1141=)
2g.144389654A>CCA348699292ZEB2c.*3291T>G (n.*3291T>G)
c.2665T>G (p.Tyr889Asp)
c.3442T>G (p.Tyr1148Asp)
c.3330T>G (p.Ala1110=)
n.3411T>G
c.3106T>G (p.Tyr1036Asp)
c.3517T>G (p.Tyr1173Asp)
c.*3159T>G (n.*3159T>G)
n.3542T>G
c.151+6758T>G (n.151+6758T>G)
c.662T>G (n.662T>G)
c.973T>G (p.Tyr325Asp)
c.3439T>G (p.Tyr1147Asp)
c.656-772T>G (n.656-772T>G)
c.3370T>G (p.Tyr1124Asp)
c.3433T>G (p.Tyr1145Asp)
c.3421T>G (p.Tyr1141Asp)
2g.144389654A>GCA1898116ZEB2c.*3291T>C (n.*3291T>C)
c.2665T>C (p.Tyr889His)
c.3442T>C (p.Tyr1148His)
c.3330T>C (p.Ala1110=)
n.3411T>C
c.3106T>C (p.Tyr1036His)
c.3517T>C (p.Tyr1173His)
c.*3159T>C (n.*3159T>C)
n.3542T>C
c.151+6758T>C (n.151+6758T>C)
c.662T>C (n.662T>C)
c.973T>C (p.Tyr325His)
c.3439T>C (p.Tyr1147His)
c.656-772T>C (n.656-772T>C)
c.3370T>C (p.Tyr1124His)
c.3433T>C (p.Tyr1145His)
c.3421T>C (p.Tyr1141His)
 dbSNP ExAC gnomAD v2
2g.144389654A>TCA348699293ZEB2c.*3291T>A (n.*3291T>A)
c.2665T>A (p.Tyr889Asn)
c.3442T>A (p.Tyr1148Asn)
c.3330T>A (p.Ala1110=)
n.3411T>A
c.3106T>A (p.Tyr1036Asn)
c.3517T>A (p.Tyr1173Asn)
c.*3159T>A (n.*3159T>A)
n.3542T>A
c.151+6758T>A (n.151+6758T>A)
c.662T>A (n.662T>A)
c.973T>A (p.Tyr325Asn)
c.3439T>A (p.Tyr1147Asn)
c.656-772T>A (n.656-772T>A)
c.3370T>A (p.Tyr1124Asn)
c.3433T>A (p.Tyr1145Asn)
c.3421T>A (p.Tyr1141Asn)
2g.144389655G>ACA429441136ZEB2c.*3290C>T (n.*3290C>T)
c.2664C>T (p.Gly888=)
c.3441C>T (p.Gly1147=)
c.3329C>T (p.Ala1110Val)
n.3410C>T
c.3105C>T (p.Gly1035=)
c.3516C>T (p.Gly1172=)
c.*3158C>T (n.*3158C>T)
n.3541C>T
c.151+6757C>T (n.151+6757C>T)
c.661C>T (n.661C>T)
c.972C>T (p.Gly324=)
c.3438C>T (p.Gly1146=)
c.656-773C>T (n.656-773C>T)
c.3369C>T (p.Gly1123=)
c.3432C>T (p.Gly1144=)
c.3420C>T (p.Gly1140=)
2g.144389655G>CCA429441137ZEB2c.*3290C>G (n.*3290C>G)
c.2664C>G (p.Gly888=)
c.3441C>G (p.Gly1147=)
c.3329C>G (p.Ala1110Gly)
n.3410C>G
c.3105C>G (p.Gly1035=)
c.3516C>G (p.Gly1172=)
c.*3158C>G (n.*3158C>G)
n.3541C>G
c.151+6757C>G (n.151+6757C>G)
c.661C>G (n.661C>G)
c.972C>G (p.Gly324=)
c.3438C>G (p.Gly1146=)
c.656-773C>G (n.656-773C>G)
c.3369C>G (p.Gly1123=)
c.3432C>G (p.Gly1144=)
c.3420C>G (p.Gly1140=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389655G=CA1294881286ZEB2c.*3290C= (n.*3290C=)
c.2664C= (p.Gly888=)
c.3441C= (p.Gly1147=)
c.3329C= (p.Ala1110=)
n.3410C=
c.3105C= (p.Gly1035=)
c.3516C= (p.Gly1172=)
c.*3158C= (n.*3158C=)
n.3541C=
c.151+6757C= (n.151+6757C=)
c.661C= (n.661C=)
c.972C= (p.Gly324=)
c.3438C= (p.Gly1146=)
c.656-773C= (n.656-773C=)
c.3369C= (p.Gly1123=)
c.3432C= (p.Gly1144=)
c.3420C= (p.Gly1140=)
2g.144389655G>TCA429441135ZEB2c.*3290C>A (n.*3290C>A)
c.2664C>A (p.Gly888=)
c.3441C>A (p.Gly1147=)
c.3329C>A (p.Ala1110Asp)
n.3410C>A
c.3105C>A (p.Gly1035=)
c.3516C>A (p.Gly1172=)
c.*3158C>A (n.*3158C>A)
n.3541C>A
c.151+6757C>A (n.151+6757C>A)
c.661C>A (n.661C>A)
c.972C>A (p.Gly324=)
c.3438C>A (p.Gly1146=)
c.656-773C>A (n.656-773C>A)
c.3369C>A (p.Gly1123=)
c.3432C>A (p.Gly1144=)
c.3420C>A (p.Gly1140=)
2g.144389656C>ACA1898117ZEB2c.*3289G>T (n.*3289G>T)
c.2663G>T (p.Gly888Val)
c.3440G>T (p.Gly1147Val)
c.3328G>T (p.Ala1110Ser)
n.3409G>T
c.3104G>T (p.Gly1035Val)
c.3515G>T (p.Gly1172Val)
c.*3157G>T (n.*3157G>T)
n.3540G>T
c.151+6756G>T (n.151+6756G>T)
c.660G>T (n.660G>T)
c.971G>T (p.Gly324Val)
c.3437G>T (p.Gly1146Val)
c.656-774G>T (n.656-774G>T)
c.3368G>T (p.Gly1123Val)
c.3431G>T (p.Gly1144Val)
c.3419G>T (p.Gly1140Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389656C=CA1294881287ZEB2c.*3289G= (n.*3289G=)
c.2663G= (p.Gly888=)
c.3440G= (p.Gly1147=)
c.3328G= (p.Ala1110=)
n.3409G=
c.3104G= (p.Gly1035=)
c.3515G= (p.Gly1172=)
c.*3157G= (n.*3157G=)
n.3540G=
c.151+6756G= (n.151+6756G=)
c.660G= (n.660G=)
c.971G= (p.Gly324=)
c.3437G= (p.Gly1146=)
c.656-774G= (n.656-774G=)
c.3368G= (p.Gly1123=)
c.3431G= (p.Gly1144=)
c.3419G= (p.Gly1140=)
2g.144389656C>GCA348699295ZEB2c.*3289G>C (n.*3289G>C)
c.2663G>C (p.Gly888Ala)
c.3440G>C (p.Gly1147Ala)
c.3328G>C (p.Ala1110Pro)
n.3409G>C
c.3104G>C (p.Gly1035Ala)
c.3515G>C (p.Gly1172Ala)
c.*3157G>C (n.*3157G>C)
n.3540G>C
c.151+6756G>C (n.151+6756G>C)
c.660G>C (n.660G>C)
c.971G>C (p.Gly324Ala)
c.3437G>C (p.Gly1146Ala)
c.656-774G>C (n.656-774G>C)
c.3368G>C (p.Gly1123Ala)
c.3431G>C (p.Gly1144Ala)
c.3419G>C (p.Gly1140Ala)
2g.144389656C>TCA348699294ZEB2c.*3289G>A (n.*3289G>A)
c.2663G>A (p.Gly888Asp)
c.3440G>A (p.Gly1147Asp)
c.3328G>A (p.Ala1110Thr)
n.3409G>A
c.3104G>A (p.Gly1035Asp)
c.3515G>A (p.Gly1172Asp)
c.*3157G>A (n.*3157G>A)
n.3540G>A
c.151+6756G>A (n.151+6756G>A)
c.660G>A (n.660G>A)
c.971G>A (p.Gly324Asp)
c.3437G>A (p.Gly1146Asp)
c.656-774G>A (n.656-774G>A)
c.3368G>A (p.Gly1123Asp)
c.3431G>A (p.Gly1144Asp)
c.3419G>A (p.Gly1140Asp)
2g.144389657C>ACA348699296ZEB2c.*3288G>T (n.*3288G>T)
c.2662G>T (p.Gly888Cys)
c.3439G>T (p.Gly1147Cys)
c.3327G>T (p.Met1109Ile)
n.3408G>T
c.3103G>T (p.Gly1035Cys)
c.3514G>T (p.Gly1172Cys)
c.*3156G>T (n.*3156G>T)
n.3539G>T
c.151+6755G>T (n.151+6755G>T)
c.659G>T (n.659G>T)
c.970G>T (p.Gly324Cys)
c.3436G>T (p.Gly1146Cys)
c.656-775G>T (n.656-775G>T)
c.3367G>T (p.Gly1123Cys)
c.3430G>T (p.Gly1144Cys)
c.3418G>T (p.Gly1140Cys)
2g.144389657C>GCA348699298ZEB2c.*3288G>C (n.*3288G>C)
c.2662G>C (p.Gly888Arg)
c.3439G>C (p.Gly1147Arg)
c.3327G>C (p.Met1109Ile)
n.3408G>C
c.3103G>C (p.Gly1035Arg)
c.3514G>C (p.Gly1172Arg)
c.*3156G>C (n.*3156G>C)
n.3539G>C
c.151+6755G>C (n.151+6755G>C)
c.659G>C (n.659G>C)
c.970G>C (p.Gly324Arg)
c.3436G>C (p.Gly1146Arg)
c.656-775G>C (n.656-775G>C)
c.3367G>C (p.Gly1123Arg)
c.3430G>C (p.Gly1144Arg)
c.3418G>C (p.Gly1140Arg)
2g.144389657C>TCA348699297ZEB2c.*3288G>A (n.*3288G>A)
c.2662G>A (p.Gly888Ser)
c.3439G>A (p.Gly1147Ser)
c.3327G>A (p.Met1109Ile)
n.3408G>A
c.3103G>A (p.Gly1035Ser)
c.3514G>A (p.Gly1172Ser)
c.*3156G>A (n.*3156G>A)
n.3539G>A
c.151+6755G>A (n.151+6755G>A)
c.659G>A (n.659G>A)
c.970G>A (p.Gly324Ser)
c.3436G>A (p.Gly1146Ser)
c.656-775G>A (n.656-775G>A)
c.3367G>A (p.Gly1123Ser)
c.3430G>A (p.Gly1144Ser)
c.3418G>A (p.Gly1140Ser)
2g.144389658_144389660dupCA2739271217ZEB2c.*3286_*3288dup (n.*3286_*3288dup)
c.2660_2662dup (p.Asp887_Gly888insAsp)
c.3437_3439dup (p.Asp1146_Gly1147insAsp)
c.3325_3327dup (p.Met1109_Ala1110insMet)
n.3406_3408dup
c.3101_3103dup (p.Asp1034_Gly1035insAsp)
c.3512_3514dup (p.Asp1171_Gly1172insAsp)
c.*3154_*3156dup (n.*3154_*3156dup)
n.3537_3539dup
c.151+6753_151+6755dup (n.151+6753_151+6755dup)
c.657_659dup (n.657_659dup)
c.968_970dup (p.Asp323_Gly324insAsp)
c.3434_3436dup (p.Asp1145_Gly1146insAsp)
c.656-777_656-775dup (n.656-777_656-775dup)
c.3365_3367dup (p.Asp1122_Gly1123insAsp)
c.3428_3430dup (p.Asp1143_Gly1144insAsp)
c.3416_3418dup (p.Asp1139_Gly1140insAsp)
 ClinVar
2g.144389658A>CCA348699299ZEB2c.*3287T>G (n.*3287T>G)
c.2661T>G (p.Asp887Glu)
c.3438T>G (p.Asp1146Glu)
c.3326T>G (p.Met1109Arg)
n.3407T>G
c.3102T>G (p.Asp1034Glu)
c.3513T>G (p.Asp1171Glu)
c.*3155T>G (n.*3155T>G)
n.3538T>G
c.151+6754T>G (n.151+6754T>G)
c.658T>G (n.658T>G)
c.969T>G (p.Asp323Glu)
c.3435T>G (p.Asp1145Glu)
c.656-776T>G (n.656-776T>G)
c.3366T>G (p.Asp1122Glu)
c.3429T>G (p.Asp1143Glu)
c.3417T>G (p.Asp1139Glu)
2g.144389658A>GCA429441138ZEB2c.*3287T>C (n.*3287T>C)
c.2661T>C (p.Asp887=)
c.3438T>C (p.Asp1146=)
c.3326T>C (p.Met1109Thr)
n.3407T>C
c.3102T>C (p.Asp1034=)
c.3513T>C (p.Asp1171=)
c.*3155T>C (n.*3155T>C)
n.3538T>C
c.151+6754T>C (n.151+6754T>C)
c.658T>C (n.658T>C)
c.969T>C (p.Asp323=)
c.3435T>C (p.Asp1145=)
c.656-776T>C (n.656-776T>C)
c.3366T>C (p.Asp1122=)
c.3429T>C (p.Asp1143=)
c.3417T>C (p.Asp1139=)
 gnomAD v4
2g.144389658A>TCA348699300ZEB2c.*3287T>A (n.*3287T>A)
c.2661T>A (p.Asp887Glu)
c.3438T>A (p.Asp1146Glu)
c.3326T>A (p.Met1109Lys)
n.3407T>A
c.3102T>A (p.Asp1034Glu)
c.3513T>A (p.Asp1171Glu)
c.*3155T>A (n.*3155T>A)
n.3538T>A
c.151+6754T>A (n.151+6754T>A)
c.658T>A (n.658T>A)
c.969T>A (p.Asp323Glu)
c.3435T>A (p.Asp1145Glu)
c.656-776T>A (n.656-776T>A)
c.3366T>A (p.Asp1122Glu)
c.3429T>A (p.Asp1143Glu)
c.3417T>A (p.Asp1139Glu)
2g.144389659T>ACA348699301ZEB2c.*3286A>T (n.*3286A>T)
c.2660A>T (p.Asp887Val)
c.3437A>T (p.Asp1146Val)
c.3325A>T (p.Met1109Leu)
n.3406A>T
c.3101A>T (p.Asp1034Val)
c.3512A>T (p.Asp1171Val)
c.*3154A>T (n.*3154A>T)
n.3537A>T
c.151+6753A>T (n.151+6753A>T)
c.657A>T (n.657A>T)
c.968A>T (p.Asp323Val)
c.3434A>T (p.Asp1145Val)
c.656-777A>T (n.656-777A>T)
c.3365A>T (p.Asp1122Val)
c.3428A>T (p.Asp1143Val)
c.3416A>T (p.Asp1139Val)
 COSMIC
2g.144389659T>CCA348699303ZEB2c.*3286A>G (n.*3286A>G)
c.2660A>G (p.Asp887Gly)
c.3437A>G (p.Asp1146Gly)
c.3325A>G (p.Met1109Val)
n.3406A>G
c.3101A>G (p.Asp1034Gly)
c.3512A>G (p.Asp1171Gly)
c.*3154A>G (n.*3154A>G)
n.3537A>G
c.151+6753A>G (n.151+6753A>G)
c.657A>G (n.657A>G)
c.968A>G (p.Asp323Gly)
c.3434A>G (p.Asp1145Gly)
c.656-777A>G (n.656-777A>G)
c.3365A>G (p.Asp1122Gly)
c.3428A>G (p.Asp1143Gly)
c.3416A>G (p.Asp1139Gly)
2g.144389659T>GCA348699302ZEB2c.*3286A>C (n.*3286A>C)
c.2660A>C (p.Asp887Ala)
c.3437A>C (p.Asp1146Ala)
c.3325A>C (p.Met1109Leu)
n.3406A>C
c.3101A>C (p.Asp1034Ala)
c.3512A>C (p.Asp1171Ala)
c.*3154A>C (n.*3154A>C)
n.3537A>C
c.151+6753A>C (n.151+6753A>C)
c.657A>C (n.657A>C)
c.968A>C (p.Asp323Ala)
c.3434A>C (p.Asp1145Ala)
c.656-777A>C (n.656-777A>C)
c.3365A>C (p.Asp1122Ala)
c.3428A>C (p.Asp1143Ala)
c.3416A>C (p.Asp1139Ala)
2g.144389660C>ACA348699304ZEB2c.*3285G>T (n.*3285G>T)
c.2659G>T (p.Asp887Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3324G>T (p.Arg1108Ser)
n.3405G>T
c.3100G>T (p.Asp1034Tyr)
c.3511G>T (p.Asp1171Tyr)
c.*3153G>T (n.*3153G>T)
n.3536G>T
c.151+6752G>T (n.151+6752G>T)
c.656G>T (n.656G>T)
c.967G>T (p.Asp323Tyr)
c.3433G>T (p.Asp1145Tyr)
c.656-778G>T (n.656-778G>T)
c.3364G>T (p.Asp1122Tyr)
c.3427G>T (p.Asp1143Tyr)
c.3415G>T (p.Asp1139Tyr)
 dbSNP
2g.144389660C=CA1294881288ZEB2c.*3285G= (n.*3285G=)
c.2659G= (p.Asp887=)
c.3436G= (p.Asp1146=)
c.3324G= (p.Arg1108=)
n.3405G=
c.3100G= (p.Asp1034=)
c.3511G= (p.Asp1171=)
c.*3153G= (n.*3153G=)
n.3536G=
c.151+6752G= (n.151+6752G=)
c.656G= (n.656G=)
c.967G= (p.Asp323=)
c.3433G= (p.Asp1145=)
c.656-778G= (n.656-778G=)
c.3364G= (p.Asp1122=)
c.3427G= (p.Asp1143=)
c.3415G= (p.Asp1139=)
2g.144389660C>GCA348699306ZEB2c.*3285G>C (n.*3285G>C)
c.2659G>C (p.Asp887His)
c.3436G>C (p.Asp1146His)
c.3324G>C (p.Arg1108Ser)
n.3405G>C
c.3100G>C (p.Asp1034His)
c.3511G>C (p.Asp1171His)
c.*3153G>C (n.*3153G>C)
n.3536G>C
c.151+6752G>C (n.151+6752G>C)
c.656G>C (n.656G>C)
c.967G>C (p.Asp323His)
c.3433G>C (p.Asp1145His)
c.656-778G>C (n.656-778G>C)
c.3364G>C (p.Asp1122His)
c.3427G>C (p.Asp1143His)
c.3415G>C (p.Asp1139His)
2g.144389660C>TCA348699305ZEB2c.*3285G>A (n.*3285G>A)
c.2659G>A (p.Asp887Asn)
c.3436G>A (p.Asp1146Asn)
c.3324G>A (p.Arg1108=)
n.3405G>A
c.3100G>A (p.Asp1034Asn)
c.3511G>A (p.Asp1171Asn)
c.*3153G>A (n.*3153G>A)
n.3536G>A
c.151+6752G>A (n.151+6752G>A)
c.656G>A (n.656G>A)
c.967G>A (p.Asp323Asn)
c.3433G>A (p.Asp1145Asn)
c.656-778G>A (n.656-778G>A)
c.3364G>A (p.Asp1122Asn)
c.3427G>A (p.Asp1143Asn)
c.3415G>A (p.Asp1139Asn)
2g.144389661C>ACA348699307ZEB2c.*3284G>T (n.*3284G>T)
c.2658G>T (p.Glu886Asp)
c.3435G>T (p.Glu1145Asp)
c.3323G>T (p.Arg1108Met)
n.3404G>T
c.3099G>T (p.Glu1033Asp)
c.3510G>T (p.Glu1170Asp)
c.*3152G>T (n.*3152G>T)
n.3535G>T
c.151+6751G>T (n.151+6751G>T)
c.655G>T (n.655G>T)
c.966G>T (p.Glu322Asp)
c.3432G>T (p.Glu1144Asp)
c.656-779G>T (n.656-779G>T)
c.3363G>T (p.Glu1121Asp)
c.3426G>T (p.Glu1142Asp)
c.3414G>T (p.Glu1138Asp)
2g.144389661C>GCA348699308ZEB2c.*3284G>C (n.*3284G>C)
c.2658G>C (p.Glu886Asp)
c.3435G>C (p.Glu1145Asp)
c.3323G>C (p.Arg1108Thr)
n.3404G>C
c.3099G>C (p.Glu1033Asp)
c.3510G>C (p.Glu1170Asp)
c.*3152G>C (n.*3152G>C)
n.3535G>C
c.151+6751G>C (n.151+6751G>C)
c.655G>C (n.655G>C)
c.966G>C (p.Glu322Asp)
c.3432G>C (p.Glu1144Asp)
c.656-779G>C (n.656-779G>C)
c.3363G>C (p.Glu1121Asp)
c.3426G>C (p.Glu1142Asp)
c.3414G>C (p.Glu1138Asp)
 ClinVar gnomAD v4
2g.144389661C>TCA429441139ZEB2c.*3284G>A (n.*3284G>A)
c.2658G>A (p.Glu886=)
c.3435G>A (p.Glu1145=)
c.3323G>A (p.Arg1108Lys)
n.3404G>A
c.3099G>A (p.Glu1033=)
c.3510G>A (p.Glu1170=)
c.*3152G>A (n.*3152G>A)
n.3535G>A
c.151+6751G>A (n.151+6751G>A)
c.655G>A (n.655G>A)
c.966G>A (p.Glu322=)
c.3432G>A (p.Glu1144=)
c.656-779G>A (n.656-779G>A)
c.3363G>A (p.Glu1121=)
c.3426G>A (p.Glu1142=)
c.3414G>A (p.Glu1138=)
 gnomAD v4
2g.144389662T>ACA348699309ZEB2c.*3283A>T (n.*3283A>T)
c.2657A>T (p.Glu886Val)
c.3434A>T (p.Glu1145Val)
c.3322A>T (p.Arg1108Trp)
n.3403A>T
c.3098A>T (p.Glu1033Val)
c.3509A>T (p.Glu1170Val)
c.*3151A>T (n.*3151A>T)
n.3534A>T
c.151+6750A>T (n.151+6750A>T)
c.654A>T (n.654A>T)
c.965A>T (p.Glu322Val)
c.3431A>T (p.Glu1144Val)
c.656-780A>T (n.656-780A>T)
c.3362A>T (p.Glu1121Val)
c.3425A>T (p.Glu1142Val)
c.3413A>T (p.Glu1138Val)
2g.144389662T>CCA348699310ZEB2c.*3283A>G (n.*3283A>G)
c.2657A>G (p.Glu886Gly)
c.3434A>G (p.Glu1145Gly)
c.3322A>G (p.Arg1108Gly)
n.3403A>G
c.3098A>G (p.Glu1033Gly)
c.3509A>G (p.Glu1170Gly)
c.*3151A>G (n.*3151A>G)
n.3534A>G
c.151+6750A>G (n.151+6750A>G)
c.654A>G (n.654A>G)
c.965A>G (p.Glu322Gly)
c.3431A>G (p.Glu1144Gly)
c.656-780A>G (n.656-780A>G)
c.3362A>G (p.Glu1121Gly)
c.3425A>G (p.Glu1142Gly)
c.3413A>G (p.Glu1138Gly)
 gnomAD v4
2g.144389662T>GCA348699311ZEB2c.*3283A>C (n.*3283A>C)
c.2657A>C (p.Glu886Ala)
c.3434A>C (p.Glu1145Ala)
c.3322A>C (p.Arg1108=)
n.3403A>C
c.3098A>C (p.Glu1033Ala)
c.3509A>C (p.Glu1170Ala)
c.*3151A>C (n.*3151A>C)
n.3534A>C
c.151+6750A>C (n.151+6750A>C)
c.654A>C (n.654A>C)
c.965A>C (p.Glu322Ala)
c.3431A>C (p.Glu1144Ala)
c.656-780A>C (n.656-780A>C)
c.3362A>C (p.Glu1121Ala)
c.3425A>C (p.Glu1142Ala)
c.3413A>C (p.Glu1138Ala)
2g.144389663C>ACA348699312ZEB2c.*3282G>T (n.*3282G>T)
c.2656G>T (p.Glu886Ter)
c.3433G>T (p.Glu1145Ter)
c.3321G>T (p.Ala1107=)
n.3402G>T
c.3097G>T (p.Glu1033Ter)
c.3508G>T (p.Glu1170Ter)
c.*3150G>T (n.*3150G>T)
n.3533G>T
c.151+6749G>T (n.151+6749G>T)
c.653G>T (n.653G>T)
c.964G>T (p.Glu322Ter)
c.3430G>T (p.Glu1144Ter)
c.656-781G>T (n.656-781G>T)
c.3361G>T (p.Glu1121Ter)
c.3424G>T (p.Glu1142Ter)
c.3412G>T (p.Glu1138Ter)
2g.144389663C>GCA348699313ZEB2c.*3282G>C (n.*3282G>C)
c.2656G>C (p.Glu886Gln)
c.3433G>C (p.Glu1145Gln)
c.3321G>C (p.Ala1107=)
n.3402G>C
c.3097G>C (p.Glu1033Gln)
c.3508G>C (p.Glu1170Gln)
c.*3150G>C (n.*3150G>C)
n.3533G>C
c.151+6749G>C (n.151+6749G>C)
c.653G>C (n.653G>C)
c.964G>C (p.Glu322Gln)
c.3430G>C (p.Glu1144Gln)
c.656-781G>C (n.656-781G>C)
c.3361G>C (p.Glu1121Gln)
c.3424G>C (p.Glu1142Gln)
c.3412G>C (p.Glu1138Gln)
 gnomAD v4
2g.144389663C>TCA348699314ZEB2c.*3282G>A (n.*3282G>A)
c.2656G>A (p.Glu886Lys)
c.3433G>A (p.Glu1145Lys)
c.3321G>A (p.Ala1107=)
n.3402G>A
c.3097G>A (p.Glu1033Lys)
c.3508G>A (p.Glu1170Lys)
c.*3150G>A (n.*3150G>A)
n.3533G>A
c.151+6749G>A (n.151+6749G>A)
c.653G>A (n.653G>A)
c.964G>A (p.Glu322Lys)
c.3430G>A (p.Glu1144Lys)
c.656-781G>A (n.656-781G>A)
c.3361G>A (p.Glu1121Lys)
c.3424G>A (p.Glu1142Lys)
c.3412G>A (p.Glu1138Lys)
 gnomAD v4
2g.144389664G>ACA1898118ZEB2c.*3281C>T (n.*3281C>T)
c.2655C>T (p.Gly885=)
c.3432C>T (p.Gly1144=)
c.3320C>T (p.Ala1107Val)
n.3401C>T
c.3096C>T (p.Gly1032=)
c.3507C>T (p.Gly1169=)
c.*3149C>T (n.*3149C>T)
n.3532C>T
c.151+6748C>T (n.151+6748C>T)
c.652C>T (n.652C>T)
c.963C>T (p.Gly321=)
c.3429C>T (p.Gly1143=)
c.656-782C>T (n.656-782C>T)
c.3360C>T (p.Gly1120=)
c.3423C>T (p.Gly1141=)
c.3411C>T (p.Gly1137=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.144389664G>CCA429441140ZEB2c.*3281C>G (n.*3281C>G)
c.2655C>G (p.Gly885=)
c.3432C>G (p.Gly1144=)
c.3320C>G (p.Ala1107Gly)
n.3401C>G
c.3096C>G (p.Gly1032=)
c.3507C>G (p.Gly1169=)
c.*3149C>G (n.*3149C>G)
n.3532C>G
c.151+6748C>G (n.151+6748C>G)
c.652C>G (n.652C>G)
c.963C>G (p.Gly321=)
c.3429C>G (p.Gly1143=)
c.656-782C>G (n.656-782C>G)
c.3360C>G (p.Gly1120=)
c.3423C>G (p.Gly1141=)
c.3411C>G (p.Gly1137=)
2g.144389664G=CA1294881289ZEB2c.*3281C= (n.*3281C=)
c.2655C= (p.Gly885=)
c.3432C= (p.Gly1144=)
c.3320C= (p.Ala1107=)
n.3401C=
c.3096C= (p.Gly1032=)
c.3507C= (p.Gly1169=)
c.*3149C= (n.*3149C=)
n.3532C=
c.151+6748C= (n.151+6748C=)
c.652C= (n.652C=)
c.963C= (p.Gly321=)
c.3429C= (p.Gly1143=)
c.656-782C= (n.656-782C=)
c.3360C= (p.Gly1120=)
c.3423C= (p.Gly1141=)
c.3411C= (p.Gly1137=)
2g.144389664G>TCA429441141ZEB2c.*3281C>A (n.*3281C>A)
c.2655C>A (p.Gly885=)
c.3432C>A (p.Gly1144=)
c.3320C>A (p.Ala1107Glu)
n.3401C>A
c.3096C>A (p.Gly1032=)
c.3507C>A (p.Gly1169=)
c.*3149C>A (n.*3149C>A)
n.3532C>A
c.151+6748C>A (n.151+6748C>A)
c.652C>A (n.652C>A)
c.963C>A (p.Gly321=)
c.3429C>A (p.Gly1143=)
c.656-782C>A (n.656-782C>A)
c.3360C>A (p.Gly1120=)
c.3423C>A (p.Gly1141=)
c.3411C>A (p.Gly1137=)
2g.144389665C>ACA348699317ZEB2c.*3280G>T (n.*3280G>T)
c.2654G>T (p.Gly885Val)
c.3431G>T (p.Gly1144Val)
c.3319G>T (p.Ala1107Ser)
n.3400G>T
c.3095G>T (p.Gly1032Val)
c.3506G>T (p.Gly1169Val)
c.*3148G>T (n.*3148G>T)
n.3531G>T
c.151+6747G>T (n.151+6747G>T)
c.651G>T (n.651G>T)
c.962G>T (p.Gly321Val)
c.3428G>T (p.Gly1143Val)
c.656-783G>T (n.656-783G>T)
c.3359G>T (p.Gly1120Val)
c.3422G>T (p.Gly1141Val)
c.3410G>T (p.Gly1137Val)
 dbSNP gnomAD v2 gnomAD v4
2g.144389665C=CA1294881290ZEB2c.*3280G= (n.*3280G=)
c.2654G= (p.Gly885=)
c.3431G= (p.Gly1144=)
c.3319G= (p.Ala1107=)
n.3400G=
c.3095G= (p.Gly1032=)
c.3506G= (p.Gly1169=)
c.*3148G= (n.*3148G=)
n.3531G=
c.151+6747G= (n.151+6747G=)
c.651G= (n.651G=)
c.962G= (p.Gly321=)
c.3428G= (p.Gly1143=)
c.656-783G= (n.656-783G=)
c.3359G= (p.Gly1120=)
c.3422G= (p.Gly1141=)
c.3410G= (p.Gly1137=)
2g.144389665C>GCA348699316ZEB2c.*3280G>C (n.*3280G>C)
c.2654G>C (p.Gly885Ala)
c.3431G>C (p.Gly1144Ala)
c.3319G>C (p.Ala1107Pro)
n.3400G>C
c.3095G>C (p.Gly1032Ala)
c.3506G>C (p.Gly1169Ala)
c.*3148G>C (n.*3148G>C)
n.3531G>C
c.151+6747G>C (n.151+6747G>C)
c.651G>C (n.651G>C)
c.962G>C (p.Gly321Ala)
c.3428G>C (p.Gly1143Ala)
c.656-783G>C (n.656-783G>C)
c.3359G>C (p.Gly1120Ala)
c.3422G>C (p.Gly1141Ala)
c.3410G>C (p.Gly1137Ala)
2g.144389665C>TCA348699315ZEB2c.*3280G>A (n.*3280G>A)
c.2654G>A (p.Gly885Asp)
c.3431G>A (p.Gly1144Asp)
c.3319G>A (p.Ala1107Thr)
n.3400G>A
c.3095G>A (p.Gly1032Asp)
c.3506G>A (p.Gly1169Asp)
c.*3148G>A (n.*3148G>A)
n.3531G>A
c.151+6747G>A (n.151+6747G>A)
c.651G>A (n.651G>A)
c.962G>A (p.Gly321Asp)
c.3428G>A (p.Gly1143Asp)
c.656-783G>A (n.656-783G>A)
c.3359G>A (p.Gly1120Asp)
c.3422G>A (p.Gly1141Asp)
c.3410G>A (p.Gly1137Asp)
2g.144389666C>ACA348699318ZEB2c.*3279G>T (n.*3279G>T)
c.2653G>T (p.Gly885Cys)
c.3430G>T (p.Gly1144Cys)
c.3318G>T (p.Lys1106Asn)
n.3399G>T
c.3094G>T (p.Gly1032Cys)
c.3505G>T (p.Gly1169Cys)
c.*3147G>T (n.*3147G>T)
n.3530G>T
c.151+6746G>T (n.151+6746G>T)
c.650G>T (n.650G>T)
c.961G>T (p.Gly321Cys)
c.3427G>T (p.Gly1143Cys)
c.656-784G>T (n.656-784G>T)
c.3358G>T (p.Gly1120Cys)
c.3421G>T (p.Gly1141Cys)
c.3409G>T (p.Gly1137Cys)
 ClinVar dbSNP
2g.144389666C=CA1294881291ZEB2c.*3279G= (n.*3279G=)
c.2653G= (p.Gly885=)
c.3430G= (p.Gly1144=)
c.3318G= (p.Lys1106=)
n.3399G=
c.3094G= (p.Gly1032=)
c.3505G= (p.Gly1169=)
c.*3147G= (n.*3147G=)
n.3530G=
c.151+6746G= (n.151+6746G=)
c.650G= (n.650G=)
c.961G= (p.Gly321=)
c.3427G= (p.Gly1143=)
c.656-784G= (n.656-784G=)
c.3358G= (p.Gly1120=)
c.3421G= (p.Gly1141=)
c.3409G= (p.Gly1137=)
2g.144389666C>GCA348699319ZEB2c.*3279G>C (n.*3279G>C)
c.2653G>C (p.Gly885Arg)
c.3430G>C (p.Gly1144Arg)
c.3318G>C (p.Lys1106Asn)
n.3399G>C
c.3094G>C (p.Gly1032Arg)
c.3505G>C (p.Gly1169Arg)
c.*3147G>C (n.*3147G>C)
n.3530G>C
c.151+6746G>C (n.151+6746G>C)
c.650G>C (n.650G>C)
c.961G>C (p.Gly321Arg)
c.3427G>C (p.Gly1143Arg)
c.656-784G>C (n.656-784G>C)
c.3358G>C (p.Gly1120Arg)
c.3421G>C (p.Gly1141Arg)
c.3409G>C (p.Gly1137Arg)
2g.144389666C>TCA348699320ZEB2c.*3279G>A (n.*3279G>A)
c.2653G>A (p.Gly885Ser)
c.3430G>A (p.Gly1144Ser)
c.3318G>A (p.Lys1106=)
n.3399G>A
c.3094G>A (p.Gly1032Ser)
c.3505G>A (p.Gly1169Ser)
c.*3147G>A (n.*3147G>A)
n.3530G>A
c.151+6746G>A (n.151+6746G>A)
c.650G>A (n.650G>A)
c.961G>A (p.Gly321Ser)
c.3427G>A (p.Gly1143Ser)
c.656-784G>A (n.656-784G>A)
c.3358G>A (p.Gly1120Ser)
c.3421G>A (p.Gly1141Ser)
c.3409G>A (p.Gly1137Ser)
 ClinVar dbSNP
2g.144389667T>ACA348699321ZEB2c.*3278A>T (n.*3278A>T)
c.2652A>T (p.Glu884Asp)
c.3429A>T (p.Glu1143Asp)
c.3317A>T (p.Lys1106Met)
n.3398A>T
c.3093A>T (p.Glu1031Asp)
c.3504A>T (p.Glu1168Asp)
c.*3146A>T (n.*3146A>T)
n.3529A>T
c.151+6745A>T (n.151+6745A>T)
c.649A>T (n.649A>T)
c.960A>T (p.Glu320Asp)
c.3426A>T (p.Glu1142Asp)
c.656-785A>T (n.656-785A>T)
c.3357A>T (p.Glu1119Asp)
c.3420A>T (p.Glu1140Asp)
c.3408A>T (p.Glu1136Asp)
2g.144389667T>CCA429441142ZEB2c.*3278A>G (n.*3278A>G)
c.2652A>G (p.Glu884=)
c.3429A>G (p.Glu1143=)
c.3317A>G (p.Lys1106Arg)
n.3398A>G
c.3093A>G (p.Glu1031=)
c.3504A>G (p.Glu1168=)
c.*3146A>G (n.*3146A>G)
n.3529A>G
c.151+6745A>G (n.151+6745A>G)
c.649A>G (n.649A>G)
c.960A>G (p.Glu320=)
c.3426A>G (p.Glu1142=)
c.656-785A>G (n.656-785A>G)
c.3357A>G (p.Glu1119=)
c.3420A>G (p.Glu1140=)
c.3408A>G (p.Glu1136=)
2g.144389667T>GCA348699322ZEB2c.*3278A>C (n.*3278A>C)
c.2652A>C (p.Glu884Asp)
c.3429A>C (p.Glu1143Asp)
c.3317A>C (p.Lys1106Thr)
n.3398A>C
c.3093A>C (p.Glu1031Asp)
c.3504A>C (p.Glu1168Asp)
c.*3146A>C (n.*3146A>C)
n.3529A>C
c.151+6745A>C (n.151+6745A>C)
c.649A>C (n.649A>C)
c.960A>C (p.Glu320Asp)
c.3426A>C (p.Glu1142Asp)
c.656-785A>C (n.656-785A>C)
c.3357A>C (p.Glu1119Asp)
c.3420A>C (p.Glu1140Asp)
c.3408A>C (p.Glu1136Asp)
2g.144389668T>ACA348699323ZEB2c.*3277A>T (n.*3277A>T)
c.2651A>T (p.Glu884Val)
c.3428A>T (p.Glu1143Val)
c.3316A>T (p.Lys1106Ter)
n.3397A>T
c.3092A>T (p.Glu1031Val)
c.3503A>T (p.Glu1168Val)
c.*3145A>T (n.*3145A>T)
n.3528A>T
c.151+6744A>T (n.151+6744A>T)
c.648A>T (n.648A>T)
c.959A>T (p.Glu320Val)
c.3425A>T (p.Glu1142Val)
c.656-786A>T (n.656-786A>T)
c.3356A>T (p.Glu1119Val)
c.3419A>T (p.Glu1140Val)
c.3407A>T (p.Glu1136Val)
 COSMIC
2g.144389668T>CCA348699324ZEB2c.*3277A>G (n.*3277A>G)
c.2651A>G (p.Glu884Gly)
c.3428A>G (p.Glu1143Gly)
c.3316A>G (p.Lys1106Glu)
n.3397A>G
c.3092A>G (p.Glu1031Gly)
c.3503A>G (p.Glu1168Gly)
c.*3145A>G (n.*3145A>G)
n.3528A>G
c.151+6744A>G (n.151+6744A>G)
c.648A>G (n.648A>G)
c.959A>G (p.Glu320Gly)
c.3425A>G (p.Glu1142Gly)
c.656-786A>G (n.656-786A>G)
c.3356A>G (p.Glu1119Gly)
c.3419A>G (p.Glu1140Gly)
c.3407A>G (p.Glu1136Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.144389668T>GCA348699325ZEB2c.*3277A>C (n.*3277A>C)
c.2651A>C (p.Glu884Ala)
c.3428A>C (p.Glu1143Ala)
c.3316A>C (p.Lys1106Gln)
n.3397A>C
c.3092A>C (p.Glu1031Ala)
c.3503A>C (p.Glu1168Ala)
c.*3145A>C (n.*3145A>C)
n.3528A>C
c.151+6744A>C (n.151+6744A>C)
c.648A>C (n.648A>C)
c.959A>C (p.Glu320Ala)
c.3425A>C (p.Glu1142Ala)
c.656-786A>C (n.656-786A>C)
c.3356A>C (p.Glu1119Ala)
c.3419A>C (p.Glu1140Ala)
c.3407A>C (p.Glu1136Ala)
2g.144389668T=CA1294881292ZEB2c.*3277A= (n.*3277A=)
c.2651A= (p.Glu884=)
c.3428A= (p.Glu1143=)
c.3316A= (p.Lys1106=)
n.3397A=
c.3092A= (p.Glu1031=)
c.3503A= (p.Glu1168=)
c.*3145A= (n.*3145A=)
n.3528A=
c.151+6744A= (n.151+6744A=)
c.648A= (n.648A=)
c.959A= (p.Glu320=)
c.3425A= (p.Glu1142=)
c.656-786A= (n.656-786A=)
c.3356A= (p.Glu1119=)
c.3419A= (p.Glu1140=)
c.3407A= (p.Glu1136=)
2g.144389669C>ACA348699326ZEB2c.*3276G>T (n.*3276G>T)
c.2650G>T (p.Glu884Ter)
c.3427G>T (p.Glu1143Ter)
c.3315G>T (p.Lys1105Asn)
n.3396G>T
c.3091G>T (p.Glu1031Ter)
c.3502G>T (p.Glu1168Ter)
c.*3144G>T (n.*3144G>T)
n.3527G>T
c.151+6743G>T (n.151+6743G>T)
c.647G>T (n.647G>T)
c.958G>T (p.Glu320Ter)
c.3424G>T (p.Glu1142Ter)
c.656-787G>T (n.656-787G>T)
c.3355G>T (p.Glu1119Ter)
c.3418G>T (p.Glu1140Ter)
c.3406G>T (p.Glu1136Ter)
 COSMIC
2g.144389669C>GCA348699327ZEB2c.*3276G>C (n.*3276G>C)
c.2650G>C (p.Glu884Gln)
c.3427G>C (p.Glu1143Gln)
c.3315G>C (p.Lys1105Asn)
n.3396G>C
c.3091G>C (p.Glu1031Gln)
c.3502G>C (p.Glu1168Gln)
c.*3144G>C (n.*3144G>C)
n.3527G>C
c.151+6743G>C (n.151+6743G>C)
c.647G>C (n.647G>C)
c.958G>C (p.Glu320Gln)
c.3424G>C (p.Glu1142Gln)
c.656-787G>C (n.656-787G>C)
c.3355G>C (p.Glu1119Gln)
c.3418G>C (p.Glu1140Gln)
c.3406G>C (p.Glu1136Gln)
2g.144389669C>TCA348699328ZEB2c.*3276G>A (n.*3276G>A)
c.2650G>A (p.Glu884Lys)
c.3427G>A (p.Glu1143Lys)
c.3315G>A (p.Lys1105=)
n.3396G>A
c.3091G>A (p.Glu1031Lys)
c.3502G>A (p.Glu1168Lys)
c.*3144G>A (n.*3144G>A)
n.3527G>A
c.151+6743G>A (n.151+6743G>A)
c.647G>A (n.647G>A)
c.958G>A (p.Glu320Lys)
c.3424G>A (p.Glu1142Lys)
c.656-787G>A (n.656-787G>A)
c.3355G>A (p.Glu1119Lys)
c.3418G>A (p.Glu1140Lys)
c.3406G>A (p.Glu1136Lys)
2g.144389670T>ACA348699330ZEB2c.*3275A>T (n.*3275A>T)
c.2649A>T (p.Lys883Asn)
c.3426A>T (p.Lys1142Asn)
c.3314A>T (p.Lys1105Met)
n.3395A>T
c.3090A>T (p.Lys1030Asn)
c.3501A>T (p.Lys1167Asn)
c.*3143A>T (n.*3143A>T)
n.3526A>T
c.151+6742A>T (n.151+6742A>T)
c.646A>T (n.646A>T)
c.957A>T (p.Lys319Asn)
c.3423A>T (p.Lys1141Asn)
c.656-788A>T (n.656-788A>T)
c.3354A>T (p.Lys1118Asn)
c.3417A>T (p.Lys1139Asn)
c.3405A>T (p.Lys1135Asn)
2g.144389670T>CCA1898119ZEB2c.*3275A>G (n.*3275A>G)
c.2649A>G (p.Lys883=)
c.3426A>G (p.Lys1142=)
c.3314A>G (p.Lys1105Arg)
n.3395A>G
c.3090A>G (p.Lys1030=)
c.3501A>G (p.Lys1167=)
c.*3143A>G (n.*3143A>G)
n.3526A>G
c.151+6742A>G (n.151+6742A>G)
c.646A>G (n.646A>G)
c.957A>G (p.Lys319=)
c.3423A>G (p.Lys1141=)
c.656-788A>G (n.656-788A>G)
c.3354A>G (p.Lys1118=)
c.3417A>G (p.Lys1139=)
c.3405A>G (p.Lys1135=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389670T>GCA348699329ZEB2c.*3275A>C (n.*3275A>C)
c.2649A>C (p.Lys883Asn)
c.3426A>C (p.Lys1142Asn)
c.3314A>C (p.Lys1105Thr)
n.3395A>C
c.3090A>C (p.Lys1030Asn)
c.3501A>C (p.Lys1167Asn)
c.*3143A>C (n.*3143A>C)
n.3526A>C
c.151+6742A>C (n.151+6742A>C)
c.646A>C (n.646A>C)
c.957A>C (p.Lys319Asn)
c.3423A>C (p.Lys1141Asn)
c.656-788A>C (n.656-788A>C)
c.3354A>C (p.Lys1118Asn)
c.3417A>C (p.Lys1139Asn)
c.3405A>C (p.Lys1135Asn)
2g.144389670T=CA1294881293ZEB2c.*3275A= (n.*3275A=)
c.2649A= (p.Lys883=)
c.3426A= (p.Lys1142=)
c.3314A= (p.Lys1105=)
n.3395A=
c.3090A= (p.Lys1030=)
c.3501A= (p.Lys1167=)
c.*3143A= (n.*3143A=)
n.3526A=
c.151+6742A= (n.151+6742A=)
c.646A= (n.646A=)
c.957A= (p.Lys319=)
c.3423A= (p.Lys1141=)
c.656-788A= (n.656-788A=)
c.3354A= (p.Lys1118=)
c.3417A= (p.Lys1139=)
c.3405A= (p.Lys1135=)
2g.144389671T>ACA348699331ZEB2c.*3274A>T (n.*3274A>T)
c.2648A>T (p.Lys883Ile)
c.3425A>T (p.Lys1142Ile)
c.3313A>T (p.Lys1105Ter)
n.3394A>T
c.3089A>T (p.Lys1030Ile)
c.3500A>T (p.Lys1167Ile)
c.*3142A>T (n.*3142A>T)
n.3525A>T
c.151+6741A>T (n.151+6741A>T)
c.645A>T (n.645A>T)
c.956A>T (p.Lys319Ile)
c.3422A>T (p.Lys1141Ile)
c.656-789A>T (n.656-789A>T)
c.3353A>T (p.Lys1118Ile)
c.3416A>T (p.Lys1139Ile)
c.3404A>T (p.Lys1135Ile)
2g.144389671T>CCA348699332ZEB2c.*3274A>G (n.*3274A>G)
c.2648A>G (p.Lys883Arg)
c.3425A>G (p.Lys1142Arg)
c.3313A>G (p.Lys1105Glu)
n.3394A>G
c.3089A>G (p.Lys1030Arg)
c.3500A>G (p.Lys1167Arg)
c.*3142A>G (n.*3142A>G)
n.3525A>G
c.151+6741A>G (n.151+6741A>G)
c.645A>G (n.645A>G)
c.956A>G (p.Lys319Arg)
c.3422A>G (p.Lys1141Arg)
c.656-789A>G (n.656-789A>G)
c.3353A>G (p.Lys1118Arg)
c.3416A>G (p.Lys1139Arg)
c.3404A>G (p.Lys1135Arg)
2g.144389671T>GCA348699333ZEB2c.*3274A>C (n.*3274A>C)
c.2648A>C (p.Lys883Thr)
c.3425A>C (p.Lys1142Thr)
c.3313A>C (p.Lys1105Gln)
n.3394A>C
c.3089A>C (p.Lys1030Thr)
c.3500A>C (p.Lys1167Thr)
c.*3142A>C (n.*3142A>C)
n.3525A>C
c.151+6741A>C (n.151+6741A>C)
c.645A>C (n.645A>C)
c.956A>C (p.Lys319Thr)
c.3422A>C (p.Lys1141Thr)
c.656-789A>C (n.656-789A>C)
c.3353A>C (p.Lys1118Thr)
c.3416A>C (p.Lys1139Thr)
c.3404A>C (p.Lys1135Thr)
2g.144389672T>ACA348699334ZEB2c.*3273A>T (n.*3273A>T)
c.2647A>T (p.Lys883Ter)
c.3424A>T (p.Lys1142Ter)
c.3312A>T (p.Arg1104Ser)
n.3393A>T
c.3088A>T (p.Lys1030Ter)
c.3499A>T (p.Lys1167Ter)
c.*3141A>T (n.*3141A>T)
n.3524A>T
c.151+6740A>T (n.151+6740A>T)
c.644A>T (n.644A>T)
c.955A>T (p.Lys319Ter)
c.3421A>T (p.Lys1141Ter)
c.656-790A>T (n.656-790A>T)
c.3352A>T (p.Lys1118Ter)
c.3415A>T (p.Lys1139Ter)
c.3403A>T (p.Lys1135Ter)
2g.144389672T>CCA348699335ZEB2c.*3273A>G (n.*3273A>G)
c.2647A>G (p.Lys883Glu)
c.3424A>G (p.Lys1142Glu)
c.3312A>G (p.Arg1104=)
n.3393A>G
c.3088A>G (p.Lys1030Glu)
c.3499A>G (p.Lys1167Glu)
c.*3141A>G (n.*3141A>G)
n.3524A>G
c.151+6740A>G (n.151+6740A>G)
c.644A>G (n.644A>G)
c.955A>G (p.Lys319Glu)
c.3421A>G (p.Lys1141Glu)
c.656-790A>G (n.656-790A>G)
c.3352A>G (p.Lys1118Glu)
c.3415A>G (p.Lys1139Glu)
c.3403A>G (p.Lys1135Glu)
2g.144389672T>GCA348699336ZEB2c.*3273A>C (n.*3273A>C)
c.2647A>C (p.Lys883Gln)
c.3424A>C (p.Lys1142Gln)
c.3312A>C (p.Arg1104Ser)
n.3393A>C
c.3088A>C (p.Lys1030Gln)
c.3499A>C (p.Lys1167Gln)
c.*3141A>C (n.*3141A>C)
n.3524A>C
c.151+6740A>C (n.151+6740A>C)
c.644A>C (n.644A>C)
c.955A>C (p.Lys319Gln)
c.3421A>C (p.Lys1141Gln)
c.656-790A>C (n.656-790A>C)
c.3352A>C (p.Lys1118Gln)
c.3415A>C (p.Lys1139Gln)
c.3403A>C (p.Lys1135Gln)
2g.144389673C>ACA348699337ZEB2c.*3272G>T (n.*3272G>T)
c.2646G>T (p.Glu882Asp)
c.3423G>T (p.Glu1141Asp)
c.3311G>T (p.Arg1104Ile)
n.3392G>T
c.3087G>T (p.Glu1029Asp)
c.3498G>T (p.Glu1166Asp)
c.*3140G>T (n.*3140G>T)
n.3523G>T
c.151+6739G>T (n.151+6739G>T)
c.643G>T (n.643G>T)
c.954G>T (p.Glu318Asp)
c.3420G>T (p.Glu1140Asp)
c.656-791G>T (n.656-791G>T)
c.3351G>T (p.Glu1117Asp)
c.3414G>T (p.Glu1138Asp)
c.3402G>T (p.Glu1134Asp)
2g.144389673C=CA1294881294ZEB2c.*3272G= (n.*3272G=)
c.2646G= (p.Glu882=)
c.3423G= (p.Glu1141=)
c.3311G= (p.Arg1104=)
n.3392G=
c.3087G= (p.Glu1029=)
c.3498G= (p.Glu1166=)
c.*3140G= (n.*3140G=)
n.3523G=
c.151+6739G= (n.151+6739G=)
c.643G= (n.643G=)
c.954G= (p.Glu318=)
c.3420G= (p.Glu1140=)
c.656-791G= (n.656-791G=)
c.3351G= (p.Glu1117=)
c.3414G= (p.Glu1138=)
c.3402G= (p.Glu1134=)
2g.144389673C>GCA348699338ZEB2c.*3272G>C (n.*3272G>C)
c.2646G>C (p.Glu882Asp)
c.3423G>C (p.Glu1141Asp)
c.3311G>C (p.Arg1104Thr)
n.3392G>C
c.3087G>C (p.Glu1029Asp)
c.3498G>C (p.Glu1166Asp)
c.*3140G>C (n.*3140G>C)
n.3523G>C
c.151+6739G>C (n.151+6739G>C)
c.643G>C (n.643G>C)
c.954G>C (p.Glu318Asp)
c.3420G>C (p.Glu1140Asp)
c.656-791G>C (n.656-791G>C)
c.3351G>C (p.Glu1117Asp)
c.3414G>C (p.Glu1138Asp)
c.3402G>C (p.Glu1134Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.144389673C>TCA429441143ZEB2c.*3272G>A (n.*3272G>A)
c.2646G>A (p.Glu882=)
c.3423G>A (p.Glu1141=)
c.3311G>A (p.Arg1104Lys)
n.3392G>A
c.3087G>A (p.Glu1029=)
c.3498G>A (p.Glu1166=)
c.*3140G>A (n.*3140G>A)
n.3523G>A
c.151+6739G>A (n.151+6739G>A)
c.643G>A (n.643G>A)
c.954G>A (p.Glu318=)
c.3420G>A (p.Glu1140=)
c.656-791G>A (n.656-791G>A)
c.3351G>A (p.Glu1117=)
c.3414G>A (p.Glu1138=)
c.3402G>A (p.Glu1134=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389674T>ACA348699339ZEB2c.*3271A>T (n.*3271A>T)
c.2645A>T (p.Glu882Val)
c.3422A>T (p.Glu1141Val)
c.3310A>T (p.Arg1104Ter)
n.3391A>T
c.3086A>T (p.Glu1029Val)
c.3497A>T (p.Glu1166Val)
c.*3139A>T (n.*3139A>T)
n.3522A>T
c.151+6738A>T (n.151+6738A>T)
c.642A>T (n.642A>T)
c.953A>T (p.Glu318Val)
c.3419A>T (p.Glu1140Val)
c.656-792A>T (n.656-792A>T)
c.3350A>T (p.Glu1117Val)
c.3413A>T (p.Glu1138Val)
c.3401A>T (p.Glu1134Val)
2g.144389674T>CCA348699340ZEB2c.*3271A>G (n.*3271A>G)
c.2645A>G (p.Glu882Gly)
c.3422A>G (p.Glu1141Gly)
c.3310A>G (p.Arg1104Gly)
n.3391A>G
c.3086A>G (p.Glu1029Gly)
c.3497A>G (p.Glu1166Gly)
c.*3139A>G (n.*3139A>G)
n.3522A>G
c.151+6738A>G (n.151+6738A>G)
c.642A>G (n.642A>G)
c.953A>G (p.Glu318Gly)
c.3419A>G (p.Glu1140Gly)
c.656-792A>G (n.656-792A>G)
c.3350A>G (p.Glu1117Gly)
c.3413A>G (p.Glu1138Gly)
c.3401A>G (p.Glu1134Gly)
2g.144389674T>GCA348699341ZEB2c.*3271A>C (n.*3271A>C)
c.2645A>C (p.Glu882Ala)
c.3422A>C (p.Glu1141Ala)
c.3310A>C (p.Arg1104=)
n.3391A>C
c.3086A>C (p.Glu1029Ala)
c.3497A>C (p.Glu1166Ala)
c.*3139A>C (n.*3139A>C)
n.3522A>C
c.151+6738A>C (n.151+6738A>C)
c.642A>C (n.642A>C)
c.953A>C (p.Glu318Ala)
c.3419A>C (p.Glu1140Ala)
c.656-792A>C (n.656-792A>C)
c.3350A>C (p.Glu1117Ala)
c.3413A>C (p.Glu1138Ala)
c.3401A>C (p.Glu1134Ala)
2g.144389675C>ACA348699344ZEB2c.*3270G>T (n.*3270G>T)
c.2644G>T (p.Glu882Ter)
c.3421G>T (p.Glu1141Ter)
c.3309G>T (p.Thr1103=)
n.3390G>T
c.3085G>T (p.Glu1029Ter)
c.3496G>T (p.Glu1166Ter)
c.*3138G>T (n.*3138G>T)
n.3521G>T
c.151+6737G>T (n.151+6737G>T)
c.641G>T (n.641G>T)
c.952G>T (p.Glu318Ter)
c.3418G>T (p.Glu1140Ter)
c.656-793G>T (n.656-793G>T)
c.3349G>T (p.Glu1117Ter)
c.3412G>T (p.Glu1138Ter)
c.3400G>T (p.Glu1134Ter)
2g.144389675C>GCA348699343ZEB2c.*3270G>C (n.*3270G>C)
c.2644G>C (p.Glu882Gln)
c.3421G>C (p.Glu1141Gln)
c.3309G>C (p.Thr1103=)
n.3390G>C
c.3085G>C (p.Glu1029Gln)
c.3496G>C (p.Glu1166Gln)
c.*3138G>C (n.*3138G>C)
n.3521G>C
c.151+6737G>C (n.151+6737G>C)
c.641G>C (n.641G>C)
c.952G>C (p.Glu318Gln)
c.3418G>C (p.Glu1140Gln)
c.656-793G>C (n.656-793G>C)
c.3349G>C (p.Glu1117Gln)
c.3412G>C (p.Glu1138Gln)
c.3400G>C (p.Glu1134Gln)
2g.144389675C>TCA348699342ZEB2c.*3270G>A (n.*3270G>A)
c.2644G>A (p.Glu882Lys)
c.3421G>A (p.Glu1141Lys)
c.3309G>A (p.Thr1103=)
n.3390G>A
c.3085G>A (p.Glu1029Lys)
c.3496G>A (p.Glu1166Lys)
c.*3138G>A (n.*3138G>A)
n.3521G>A
c.151+6737G>A (n.151+6737G>A)
c.641G>A (n.641G>A)
c.952G>A (p.Glu318Lys)
c.3418G>A (p.Glu1140Lys)
c.656-793G>A (n.656-793G>A)
c.3349G>A (p.Glu1117Lys)
c.3412G>A (p.Glu1138Lys)
c.3400G>A (p.Glu1134Lys)
 COSMIC
2g.144389676G>ACA429441144ZEB2c.*3269C>T (n.*3269C>T)
c.2643C>T (p.His881=)
c.3420C>T (p.His1140=)
c.3308C>T (p.Thr1103Met)
n.3389C>T
c.3084C>T (p.His1028=)
c.3495C>T (p.His1165=)
c.*3137C>T (n.*3137C>T)
n.3520C>T
c.151+6736C>T (n.151+6736C>T)
c.640C>T (n.640C>T)
c.951C>T (p.His317=)
c.3417C>T (p.His1139=)
c.656-794C>T (n.656-794C>T)
c.3348C>T (p.His1116=)
c.3411C>T (p.His1137=)
c.3399C>T (p.His1133=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144389676G>CCA348699345ZEB2c.*3269C>G (n.*3269C>G)
c.2643C>G (p.His881Gln)
c.3420C>G (p.His1140Gln)
c.3308C>G (p.Thr1103Arg)
n.3389C>G
c.3084C>G (p.His1028Gln)
c.3495C>G (p.His1165Gln)
c.*3137C>G (n.*3137C>G)
n.3520C>G
c.151+6736C>G (n.151+6736C>G)
c.640C>G (n.640C>G)
c.951C>G (p.His317Gln)
c.3417C>G (p.His1139Gln)
c.656-794C>G (n.656-794C>G)
c.3348C>G (p.His1116Gln)
c.3411C>G (p.His1137Gln)
c.3399C>G (p.His1133Gln)
 dbSNP
2g.144389676G=CA1294881295ZEB2c.*3269C= (n.*3269C=)
c.2643C= (p.His881=)
c.3420C= (p.His1140=)
c.3308C= (p.Thr1103=)
n.3389C=
c.3084C= (p.His1028=)
c.3495C= (p.His1165=)
c.*3137C= (n.*3137C=)
n.3520C=
c.151+6736C= (n.151+6736C=)
c.640C= (n.640C=)
c.951C= (p.His317=)
c.3417C= (p.His1139=)
c.656-794C= (n.656-794C=)
c.3348C= (p.His1116=)
c.3411C= (p.His1137=)
c.3399C= (p.His1133=)
2g.144389676G>TCA348699346ZEB2c.*3269C>A (n.*3269C>A)
c.2643C>A (p.His881Gln)
c.3420C>A (p.His1140Gln)
c.3308C>A (p.Thr1103Lys)
n.3389C>A
c.3084C>A (p.His1028Gln)
c.3495C>A (p.His1165Gln)
c.*3137C>A (n.*3137C>A)
n.3520C>A
c.151+6736C>A (n.151+6736C>A)
c.640C>A (n.640C>A)
c.951C>A (p.His317Gln)
c.3417C>A (p.His1139Gln)
c.656-794C>A (n.656-794C>A)
c.3348C>A (p.His1116Gln)
c.3411C>A (p.His1137Gln)
c.3399C>A (p.His1133Gln)
2g.144389677T>ACA348699347ZEB2c.*3268A>T (n.*3268A>T)
c.2642A>T (p.His881Leu)
c.3419A>T (p.His1140Leu)
c.3307A>T (p.Thr1103Ser)
n.3388A>T
c.3083A>T (p.His1028Leu)
c.3494A>T (p.His1165Leu)
c.*3136A>T (n.*3136A>T)
n.3519A>T
c.151+6735A>T (n.151+6735A>T)
c.639A>T (n.639A>T)
c.950A>T (p.His317Leu)
c.3416A>T (p.His1139Leu)
c.656-795A>T (n.656-795A>T)
c.3347A>T (p.His1116Leu)
c.3410A>T (p.His1137Leu)
c.3398A>T (p.His1133Leu)
2g.144389677T>CCA348699348ZEB2c.*3268A>G (n.*3268A>G)
c.2642A>G (p.His881Arg)
c.3419A>G (p.His1140Arg)
c.3307A>G (p.Thr1103Ala)
n.3388A>G
c.3083A>G (p.His1028Arg)
c.3494A>G (p.His1165Arg)
c.*3136A>G (n.*3136A>G)
n.3519A>G
c.151+6735A>G (n.151+6735A>G)
c.639A>G (n.639A>G)
c.950A>G (p.His317Arg)
c.3416A>G (p.His1139Arg)
c.656-795A>G (n.656-795A>G)
c.3347A>G (p.His1116Arg)
c.3410A>G (p.His1137Arg)
c.3398A>G (p.His1133Arg)
 dbSNP
2g.144389677T>GCA348699349ZEB2c.*3268A>C (n.*3268A>C)
c.2642A>C (p.His881Pro)
c.3419A>C (p.His1140Pro)
c.3307A>C (p.Thr1103Pro)
n.3388A>C
c.3083A>C (p.His1028Pro)
c.3494A>C (p.His1165Pro)
c.*3136A>C (n.*3136A>C)
n.3519A>C
c.151+6735A>C (n.151+6735A>C)
c.639A>C (n.639A>C)
c.950A>C (p.His317Pro)
c.3416A>C (p.His1139Pro)
c.656-795A>C (n.656-795A>C)
c.3347A>C (p.His1116Pro)
c.3410A>C (p.His1137Pro)
c.3398A>C (p.His1133Pro)
 gnomAD v4
2g.144389677T=CA1294881296ZEB2c.*3268A= (n.*3268A=)
c.2642A= (p.His881=)
c.3419A= (p.His1140=)
c.3307A= (p.Thr1103=)
n.3388A=
c.3083A= (p.His1028=)
c.3494A= (p.His1165=)
c.*3136A= (n.*3136A=)
n.3519A=
c.151+6735A= (n.151+6735A=)
c.639A= (n.639A=)
c.950A= (p.His317=)
c.3416A= (p.His1139=)
c.656-795A= (n.656-795A=)
c.3347A= (p.His1116=)
c.3410A= (p.His1137=)
c.3398A= (p.His1133=)
2g.144389678G>ACA348699350ZEB2c.*3267C>T (n.*3267C>T)
c.2641C>T (p.His881Tyr)
c.3418C>T (p.His1140Tyr)
c.3306C>T (p.Ser1102=)
n.3387C>T
c.3082C>T (p.His1028Tyr)
c.3493C>T (p.His1165Tyr)
c.*3135C>T (n.*3135C>T)
n.3518C>T
c.151+6734C>T (n.151+6734C>T)
c.638C>T (n.638C>T)
c.949C>T (p.His317Tyr)
c.3415C>T (p.His1139Tyr)
c.656-796C>T (n.656-796C>T)
c.3346C>T (p.His1116Tyr)
c.3409C>T (p.His1137Tyr)
c.3397C>T (p.His1133Tyr)
2g.144389678G>CCA348699351ZEB2c.*3267C>G (n.*3267C>G)
c.2641C>G (p.His881Asp)
c.3418C>G (p.His1140Asp)
c.3306C>G (p.Ser1102Arg)
n.3387C>G
c.3082C>G (p.His1028Asp)
c.3493C>G (p.His1165Asp)
c.*3135C>G (n.*3135C>G)
n.3518C>G
c.151+6734C>G (n.151+6734C>G)
c.638C>G (n.638C>G)
c.949C>G (p.His317Asp)
c.3415C>G (p.His1139Asp)
c.656-796C>G (n.656-796C>G)
c.3346C>G (p.His1116Asp)
c.3409C>G (p.His1137Asp)
c.3397C>G (p.His1133Asp)
2g.144389678G>TCA348699352ZEB2c.*3267C>A (n.*3267C>A)
c.2641C>A (p.His881Asn)
c.3418C>A (p.His1140Asn)
c.3306C>A (p.Ser1102Arg)
n.3387C>A
c.3082C>A (p.His1028Asn)
c.3493C>A (p.His1165Asn)
c.*3135C>A (n.*3135C>A)
n.3518C>A
c.151+6734C>A (n.151+6734C>A)
c.638C>A (n.638C>A)
c.949C>A (p.His317Asn)
c.3415C>A (p.His1139Asn)
c.656-796C>A (n.656-796C>A)
c.3346C>A (p.His1116Asn)
c.3409C>A (p.His1137Asn)
c.3397C>A (p.His1133Asn)
 gnomAD v4
2g.144389679C>ACA348699353ZEB2c.*3266G>T (n.*3266G>T)
c.2640G>T (p.Glu880Asp)
c.3417G>T (p.Glu1139Asp)
c.3305G>T (p.Ser1102Ile)
n.3386G>T
c.3081G>T (p.Glu1027Asp)
c.3492G>T (p.Glu1164Asp)
c.*3134G>T (n.*3134G>T)
n.3517G>T
c.151+6733G>T (n.151+6733G>T)
c.637G>T (n.637G>T)
c.948G>T (p.Glu316Asp)
c.3414G>T (p.Glu1138Asp)
c.656-797G>T (n.656-797G>T)
c.3345G>T (p.Glu1115Asp)
c.3408G>T (p.Glu1136Asp)
c.3396G>T (p.Glu1132Asp)
2g.144389679C=CA1294881297ZEB2c.*3266G= (n.*3266G=)
c.2640G= (p.Glu880=)
c.3417G= (p.Glu1139=)
c.3305G= (p.Ser1102=)
n.3386G=
c.3081G= (p.Glu1027=)
c.3492G= (p.Glu1164=)
c.*3134G= (n.*3134G=)
n.3517G=
c.151+6733G= (n.151+6733G=)
c.637G= (n.637G=)
c.948G= (p.Glu316=)
c.3414G= (p.Glu1138=)
c.656-797G= (n.656-797G=)
c.3345G= (p.Glu1115=)
c.3408G= (p.Glu1136=)
c.3396G= (p.Glu1132=)
2g.144389679C>GCA348699354ZEB2c.*3266G>C (n.*3266G>C)
c.2640G>C (p.Glu880Asp)
c.3417G>C (p.Glu1139Asp)
c.3305G>C (p.Ser1102Thr)
n.3386G>C
c.3081G>C (p.Glu1027Asp)
c.3492G>C (p.Glu1164Asp)
c.*3134G>C (n.*3134G>C)
n.3517G>C
c.151+6733G>C (n.151+6733G>C)
c.637G>C (n.637G>C)
c.948G>C (p.Glu316Asp)
c.3414G>C (p.Glu1138Asp)
c.656-797G>C (n.656-797G>C)
c.3345G>C (p.Glu1115Asp)
c.3408G>C (p.Glu1136Asp)
c.3396G>C (p.Glu1132Asp)
2g.144389679C>TCA429441145ZEB2c.*3266G>A (n.*3266G>A)
c.2640G>A (p.Glu880=)
c.3417G>A (p.Glu1139=)
c.3305G>A (p.Ser1102Asn)
n.3386G>A
c.3081G>A (p.Glu1027=)
c.3492G>A (p.Glu1164=)
c.*3134G>A (n.*3134G>A)
n.3517G>A
c.151+6733G>A (n.151+6733G>A)
c.637G>A (n.637G>A)
c.948G>A (p.Glu316=)
c.3414G>A (p.Glu1138=)
c.656-797G>A (n.656-797G>A)
c.3345G>A (p.Glu1115=)
c.3408G>A (p.Glu1136=)
c.3396G>A (p.Glu1132=)
 dbSNP gnomAD v4
2g.144389680T>ACA348699355ZEB2c.*3265A>T (n.*3265A>T)
c.2639A>T (p.Glu880Val)
c.3416A>T (p.Glu1139Val)
c.3304A>T (p.Ser1102Cys)
n.3385A>T
c.3080A>T (p.Glu1027Val)
c.3491A>T (p.Glu1164Val)
c.*3133A>T (n.*3133A>T)
n.3516A>T
c.151+6732A>T (n.151+6732A>T)
c.636A>T (n.636A>T)
c.947A>T (p.Glu316Val)
c.3413A>T (p.Glu1138Val)
c.656-798A>T (n.656-798A>T)
c.3344A>T (p.Glu1115Val)
c.3407A>T (p.Glu1136Val)
c.3395A>T (p.Glu1132Val)
2g.144389680T>CCA348699356ZEB2c.*3265A>G (n.*3265A>G)
c.2639A>G (p.Glu880Gly)
c.3416A>G (p.Glu1139Gly)
c.3304A>G (p.Ser1102Gly)
n.3385A>G
c.3080A>G (p.Glu1027Gly)
c.3491A>G (p.Glu1164Gly)
c.*3133A>G (n.*3133A>G)
n.3516A>G
c.151+6732A>G (n.151+6732A>G)
c.636A>G (n.636A>G)
c.947A>G (p.Glu316Gly)
c.3413A>G (p.Glu1138Gly)
c.656-798A>G (n.656-798A>G)
c.3344A>G (p.Glu1115Gly)
c.3407A>G (p.Glu1136Gly)
c.3395A>G (p.Glu1132Gly)
2g.144389680T>GCA348699357ZEB2c.*3265A>C (n.*3265A>C)
c.2639A>C (p.Glu880Ala)
c.3416A>C (p.Glu1139Ala)
c.3304A>C (p.Ser1102Arg)
n.3385A>C
c.3080A>C (p.Glu1027Ala)
c.3491A>C (p.Glu1164Ala)
c.*3133A>C (n.*3133A>C)
n.3516A>C
c.151+6732A>C (n.151+6732A>C)
c.636A>C (n.636A>C)
c.947A>C (p.Glu316Ala)
c.3413A>C (p.Glu1138Ala)
c.656-798A>C (n.656-798A>C)
c.3344A>C (p.Glu1115Ala)
c.3407A>C (p.Glu1136Ala)
c.3395A>C (p.Glu1132Ala)
2g.144389681C>ACA348699359ZEB2c.*3264G>T (n.*3264G>T)
c.2638G>T (p.Glu880Ter)
c.3415G>T (p.Glu1139Ter)
c.3303G>T (p.Arg1101Ser)
n.3384G>T
c.3079G>T (p.Glu1027Ter)
c.3490G>T (p.Glu1164Ter)
c.*3132G>T (n.*3132G>T)
n.3515G>T
c.151+6731G>T (n.151+6731G>T)
c.635G>T (n.635G>T)
c.946G>T (p.Glu316Ter)
c.3412G>T (p.Glu1138Ter)
c.656-799G>T (n.656-799G>T)
c.3343G>T (p.Glu1115Ter)
c.3406G>T (p.Glu1136Ter)
c.3394G>T (p.Glu1132Ter)
2g.144389681C>GCA348699360ZEB2c.*3264G>C (n.*3264G>C)
c.2638G>C (p.Glu880Gln)
c.3415G>C (p.Glu1139Gln)
c.3303G>C (p.Arg1101Ser)
n.3384G>C
c.3079G>C (p.Glu1027Gln)
c.3490G>C (p.Glu1164Gln)
c.*3132G>C (n.*3132G>C)
n.3515G>C
c.151+6731G>C (n.151+6731G>C)
c.635G>C (n.635G>C)
c.946G>C (p.Glu316Gln)
c.3412G>C (p.Glu1138Gln)
c.656-799G>C (n.656-799G>C)
c.3343G>C (p.Glu1115Gln)
c.3406G>C (p.Glu1136Gln)
c.3394G>C (p.Glu1132Gln)
2g.144389681C>TCA348699358ZEB2c.*3264G>A (n.*3264G>A)
c.2638G>A (p.Glu880Lys)
c.3415G>A (p.Glu1139Lys)
c.3303G>A (p.Arg1101=)
n.3384G>A
c.3079G>A (p.Glu1027Lys)
c.3490G>A (p.Glu1164Lys)
c.*3132G>A (n.*3132G>A)
n.3515G>A
c.151+6731G>A (n.151+6731G>A)
c.635G>A (n.635G>A)
c.946G>A (p.Glu316Lys)
c.3412G>A (p.Glu1138Lys)
c.656-799G>A (n.656-799G>A)
c.3343G>A (p.Glu1115Lys)
c.3406G>A (p.Glu1136Lys)
c.3394G>A (p.Glu1132Lys)
2g.144389682C>ACA348699362ZEB2c.*3263G>T (n.*3263G>T)
c.2637G>T (p.Lys879Asn)
c.3414G>T (p.Lys1138Asn)
c.3302G>T (p.Arg1101Met)
n.3383G>T
c.3078G>T (p.Lys1026Asn)
c.3489G>T (p.Lys1163Asn)
c.*3131G>T (n.*3131G>T)
n.3514G>T
c.151+6730G>T (n.151+6730G>T)
c.634G>T (n.634G>T)
c.945G>T (p.Lys315Asn)
c.3411G>T (p.Lys1137Asn)
c.656-800G>T (n.656-800G>T)
c.3342G>T (p.Lys1114Asn)
c.3405G>T (p.Lys1135Asn)
c.3393G>T (p.Lys1131Asn)
2g.144389682C=CA1294881298ZEB2c.*3263G= (n.*3263G=)
c.2637G= (p.Lys879=)
c.3414G= (p.Lys1138=)
c.3302G= (p.Arg1101=)
n.3383G=
c.3078G= (p.Lys1026=)
c.3489G= (p.Lys1163=)
c.*3131G= (n.*3131G=)
n.3514G=
c.151+6730G= (n.151+6730G=)
c.634G= (n.634G=)
c.945G= (p.Lys315=)
c.3411G= (p.Lys1137=)
c.656-800G= (n.656-800G=)
c.3342G= (p.Lys1114=)
c.3405G= (p.Lys1135=)
c.3393G= (p.Lys1131=)
2g.144389682C>GCA348699361ZEB2c.*3263G>C (n.*3263G>C)
c.2637G>C (p.Lys879Asn)
c.3414G>C (p.Lys1138Asn)
c.3302G>C (p.Arg1101Thr)
n.3383G>C
c.3078G>C (p.Lys1026Asn)
c.3489G>C (p.Lys1163Asn)
c.*3131G>C (n.*3131G>C)
n.3514G>C
c.151+6730G>C (n.151+6730G>C)
c.634G>C (n.634G>C)
c.945G>C (p.Lys315Asn)
c.3411G>C (p.Lys1137Asn)
c.656-800G>C (n.656-800G>C)
c.3342G>C (p.Lys1114Asn)
c.3405G>C (p.Lys1135Asn)
c.3393G>C (p.Lys1131Asn)
2g.144389682C>TCA1898120ZEB2c.*3263G>A (n.*3263G>A)
c.2637G>A (p.Lys879=)
c.3414G>A (p.Lys1138=)
c.3302G>A (p.Arg1101Lys)
n.3383G>A
c.3078G>A (p.Lys1026=)
c.3489G>A (p.Lys1163=)
c.*3131G>A (n.*3131G>A)
n.3514G>A
c.151+6730G>A (n.151+6730G>A)
c.634G>A (n.634G>A)
c.945G>A (p.Lys315=)
c.3411G>A (p.Lys1137=)
c.656-800G>A (n.656-800G>A)
c.3342G>A (p.Lys1114=)
c.3405G>A (p.Lys1135=)
c.3393G>A (p.Lys1131=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389684_144389686delCA645536264ZEB2c.*3261_*3263del (n.*3261_*3263del)
c.2635_2637del (p.Lys879del)
c.3412_3414del (p.Lys1138del)
c.3300_3302del (p.Arg1101del)
n.3381_3383del
c.3076_3078del (p.Lys1026del)
c.3487_3489del (p.Lys1163del)
c.*3129_*3131del (n.*3129_*3131del)
n.3512_3514del
c.151+6728_151+6730del (n.151+6728_151+6730del)
c.632_634del (n.632_634del)
c.943_945del (p.Lys315del)
c.3409_3411del (p.Lys1137del)
c.656-802_656-800del (n.656-802_656-800del)
c.3340_3342del (p.Lys1114del)
c.3403_3405del (p.Lys1135del)
c.3391_3393del (p.Lys1131del)
 COSMIC
2g.144389683T>ACA348699363ZEB2c.*3262A>T (n.*3262A>T)
c.2636A>T (p.Lys879Met)
c.3413A>T (p.Lys1138Met)
c.3301A>T (p.Arg1101Trp)
n.3382A>T
c.3077A>T (p.Lys1026Met)
c.3488A>T (p.Lys1163Met)
c.*3130A>T (n.*3130A>T)
n.3513A>T
c.151+6729A>T (n.151+6729A>T)
c.633A>T (n.633A>T)
c.944A>T (p.Lys315Met)
c.3410A>T (p.Lys1137Met)
c.656-801A>T (n.656-801A>T)
c.3341A>T (p.Lys1114Met)
c.3404A>T (p.Lys1135Met)
c.3392A>T (p.Lys1131Met)
2g.144389683T>CCA348699364ZEB2c.*3262A>G (n.*3262A>G)
c.2636A>G (p.Lys879Arg)
c.3413A>G (p.Lys1138Arg)
c.3301A>G (p.Arg1101Gly)
n.3382A>G
c.3077A>G (p.Lys1026Arg)
c.3488A>G (p.Lys1163Arg)
c.*3130A>G (n.*3130A>G)
n.3513A>G
c.151+6729A>G (n.151+6729A>G)
c.633A>G (n.633A>G)
c.944A>G (p.Lys315Arg)
c.3410A>G (p.Lys1137Arg)
c.656-801A>G (n.656-801A>G)
c.3341A>G (p.Lys1114Arg)
c.3404A>G (p.Lys1135Arg)
c.3392A>G (p.Lys1131Arg)
 gnomAD v4
2g.144389683T>GCA348699365ZEB2c.*3262A>C (n.*3262A>C)
c.2636A>C (p.Lys879Thr)
c.3413A>C (p.Lys1138Thr)
c.3301A>C (p.Arg1101=)
n.3382A>C
c.3077A>C (p.Lys1026Thr)
c.3488A>C (p.Lys1163Thr)
c.*3130A>C (n.*3130A>C)
n.3513A>C
c.151+6729A>C (n.151+6729A>C)
c.633A>C (n.633A>C)
c.944A>C (p.Lys315Thr)
c.3410A>C (p.Lys1137Thr)
c.656-801A>C (n.656-801A>C)
c.3341A>C (p.Lys1114Thr)
c.3404A>C (p.Lys1135Thr)
c.3392A>C (p.Lys1131Thr)
2g.144389684T>ACA348699366ZEB2c.*3261A>T (n.*3261A>T)
c.2635A>T (p.Lys879Ter)
c.3412A>T (p.Lys1138Ter)
c.3300A>T (p.Arg1100Ser)
n.3381A>T
c.3076A>T (p.Lys1026Ter)
c.3487A>T (p.Lys1163Ter)
c.*3129A>T (n.*3129A>T)
n.3512A>T
c.151+6728A>T (n.151+6728A>T)
c.632A>T (n.632A>T)
c.943A>T (p.Lys315Ter)
c.3409A>T (p.Lys1137Ter)
c.656-802A>T (n.656-802A>T)
c.3340A>T (p.Lys1114Ter)
c.3403A>T (p.Lys1135Ter)
c.3391A>T (p.Lys1131Ter)
2g.144389684T>CCA348699367ZEB2c.*3261A>G (n.*3261A>G)
c.2635A>G (p.Lys879Glu)
c.3412A>G (p.Lys1138Glu)
c.3300A>G (p.Arg1100=)
n.3381A>G
c.3076A>G (p.Lys1026Glu)
c.3487A>G (p.Lys1163Glu)
c.*3129A>G (n.*3129A>G)
n.3512A>G
c.151+6728A>G (n.151+6728A>G)
c.632A>G (n.632A>G)
c.943A>G (p.Lys315Glu)
c.3409A>G (p.Lys1137Glu)
c.656-802A>G (n.656-802A>G)
c.3340A>G (p.Lys1114Glu)
c.3403A>G (p.Lys1135Glu)
c.3391A>G (p.Lys1131Glu)
2g.144389684T>GCA348699368ZEB2c.*3261A>C (n.*3261A>C)
c.2635A>C (p.Lys879Gln)
c.3412A>C (p.Lys1138Gln)
c.3300A>C (p.Arg1100Ser)
n.3381A>C
c.3076A>C (p.Lys1026Gln)
c.3487A>C (p.Lys1163Gln)
c.*3129A>C (n.*3129A>C)
n.3512A>C
c.151+6728A>C (n.151+6728A>C)
c.632A>C (n.632A>C)
c.943A>C (p.Lys315Gln)
c.3409A>C (p.Lys1137Gln)
c.656-802A>C (n.656-802A>C)
c.3340A>C (p.Lys1114Gln)
c.3403A>C (p.Lys1135Gln)
c.3391A>C (p.Lys1131Gln)
2g.144389685C>ACA348699369ZEB2c.*3260G>T (n.*3260G>T)
c.2634G>T (p.Glu878Asp)
c.3411G>T (p.Glu1137Asp)
c.3299G>T (p.Arg1100Ile)
n.3380G>T
c.3075G>T (p.Glu1025Asp)
c.3486G>T (p.Glu1162Asp)
c.*3128G>T (n.*3128G>T)
n.3511G>T
c.151+6727G>T (n.151+6727G>T)
c.631G>T (n.631G>T)
c.942G>T (p.Glu314Asp)
c.3408G>T (p.Glu1136Asp)
c.656-803G>T (n.656-803G>T)
c.3339G>T (p.Glu1113Asp)
c.3402G>T (p.Glu1134Asp)
c.3390G>T (p.Glu1130Asp)
2g.144389685C>GCA348699370ZEB2c.*3260G>C (n.*3260G>C)
c.2634G>C (p.Glu878Asp)
c.3411G>C (p.Glu1137Asp)
c.3299G>C (p.Arg1100Thr)
n.3380G>C
c.3075G>C (p.Glu1025Asp)
c.3486G>C (p.Glu1162Asp)
c.*3128G>C (n.*3128G>C)
n.3511G>C
c.151+6727G>C (n.151+6727G>C)
c.631G>C (n.631G>C)
c.942G>C (p.Glu314Asp)
c.3408G>C (p.Glu1136Asp)
c.656-803G>C (n.656-803G>C)
c.3339G>C (p.Glu1113Asp)
c.3402G>C (p.Glu1134Asp)
c.3390G>C (p.Glu1130Asp)
2g.144389685C>TCA429441147ZEB2c.*3260G>A (n.*3260G>A)
c.2634G>A (p.Glu878=)
c.3411G>A (p.Glu1137=)
c.3299G>A (p.Arg1100Lys)
n.3380G>A
c.3075G>A (p.Glu1025=)
c.3486G>A (p.Glu1162=)
c.*3128G>A (n.*3128G>A)
n.3511G>A
c.151+6727G>A (n.151+6727G>A)
c.631G>A (n.631G>A)
c.942G>A (p.Glu314=)
c.3408G>A (p.Glu1136=)
c.656-803G>A (n.656-803G>A)
c.3339G>A (p.Glu1113=)
c.3402G>A (p.Glu1134=)
c.3390G>A (p.Glu1130=)
2g.144389686T>ACA348699371ZEB2c.*3259A>T (n.*3259A>T)
c.2633A>T (p.Glu878Val)
c.3410A>T (p.Glu1137Val)
c.3298A>T (p.Arg1100Ter)
n.3379A>T
c.3074A>T (p.Glu1025Val)
c.3485A>T (p.Glu1162Val)
c.*3127A>T (n.*3127A>T)
n.3510A>T
c.151+6726A>T (n.151+6726A>T)
c.630A>T (n.630A>T)
c.941A>T (p.Glu314Val)
c.3407A>T (p.Glu1136Val)
c.656-804A>T (n.656-804A>T)
c.3338A>T (p.Glu1113Val)
c.3401A>T (p.Glu1134Val)
c.3389A>T (p.Glu1130Val)
2g.144389686T>CCA348699372ZEB2c.*3259A>G (n.*3259A>G)
c.2633A>G (p.Glu878Gly)
c.3410A>G (p.Glu1137Gly)
c.3298A>G (p.Arg1100Gly)
n.3379A>G
c.3074A>G (p.Glu1025Gly)
c.3485A>G (p.Glu1162Gly)
c.*3127A>G (n.*3127A>G)
n.3510A>G
c.151+6726A>G (n.151+6726A>G)
c.630A>G (n.630A>G)
c.941A>G (p.Glu314Gly)
c.3407A>G (p.Glu1136Gly)
c.656-804A>G (n.656-804A>G)
c.3338A>G (p.Glu1113Gly)
c.3401A>G (p.Glu1134Gly)
c.3389A>G (p.Glu1130Gly)
 ClinVar gnomAD v4
2g.144389686T>GCA348699373ZEB2c.*3259A>C (n.*3259A>C)
c.2633A>C (p.Glu878Ala)
c.3410A>C (p.Glu1137Ala)
c.3298A>C (p.Arg1100=)
n.3379A>C
c.3074A>C (p.Glu1025Ala)
c.3485A>C (p.Glu1162Ala)
c.*3127A>C (n.*3127A>C)
n.3510A>C
c.151+6726A>C (n.151+6726A>C)
c.630A>C (n.630A>C)
c.941A>C (p.Glu314Ala)
c.3407A>C (p.Glu1136Ala)
c.656-804A>C (n.656-804A>C)
c.3338A>C (p.Glu1113Ala)
c.3401A>C (p.Glu1134Ala)
c.3389A>C (p.Glu1130Ala)
2g.144389687C>ACA348699374ZEB2c.*3258G>T (n.*3258G>T)
c.2632G>T (p.Glu878Ter)
c.3409G>T (p.Glu1137Ter)
c.3297G>T (p.Ala1099=)
n.3378G>T
c.3073G>T (p.Glu1025Ter)
c.3484G>T (p.Glu1162Ter)
c.*3126G>T (n.*3126G>T)
n.3509G>T
c.151+6725G>T (n.151+6725G>T)
c.629G>T (n.629G>T)
c.940G>T (p.Glu314Ter)
c.3406G>T (p.Glu1136Ter)
c.656-805G>T (n.656-805G>T)
c.3337G>T (p.Glu1113Ter)
c.3400G>T (p.Glu1134Ter)
c.3388G>T (p.Glu1130Ter)
2g.144389687C=CA1294881299ZEB2c.*3258G= (n.*3258G=)
c.2632G= (p.Glu878=)
c.3409G= (p.Glu1137=)
c.3297G= (p.Ala1099=)
n.3378G=
c.3073G= (p.Glu1025=)
c.3484G= (p.Glu1162=)
c.*3126G= (n.*3126G=)
n.3509G=
c.151+6725G= (n.151+6725G=)
c.629G= (n.629G=)
c.940G= (p.Glu314=)
c.3406G= (p.Glu1136=)
c.656-805G= (n.656-805G=)
c.3337G= (p.Glu1113=)
c.3400G= (p.Glu1134=)
c.3388G= (p.Glu1130=)
2g.144389687C>GCA348699375ZEB2c.*3258G>C (n.*3258G>C)
c.2632G>C (p.Glu878Gln)
c.3409G>C (p.Glu1137Gln)
c.3297G>C (p.Ala1099=)
n.3378G>C
c.3073G>C (p.Glu1025Gln)
c.3484G>C (p.Glu1162Gln)
c.*3126G>C (n.*3126G>C)
n.3509G>C
c.151+6725G>C (n.151+6725G>C)
c.629G>C (n.629G>C)
c.940G>C (p.Glu314Gln)
c.3406G>C (p.Glu1136Gln)
c.656-805G>C (n.656-805G>C)
c.3337G>C (p.Glu1113Gln)
c.3400G>C (p.Glu1134Gln)
c.3388G>C (p.Glu1130Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.144389687C>TCA297623ZEB2c.*3258G>A (n.*3258G>A)
c.2632G>A (p.Glu878Lys)
c.3409G>A (p.Glu1137Lys)
c.3297G>A (p.Ala1099=)
n.3378G>A
c.3073G>A (p.Glu1025Lys)
c.3484G>A (p.Glu1162Lys)
c.*3126G>A (n.*3126G>A)
n.3509G>A
c.151+6725G>A (n.151+6725G>A)
c.629G>A (n.629G>A)
c.940G>A (p.Glu314Lys)
c.3406G>A (p.Glu1136Lys)
c.656-805G>A (n.656-805G>A)
c.3337G>A (p.Glu1113Lys)
c.3400G>A (p.Glu1134Lys)
c.3388G>A (p.Glu1130Lys)
 ClinVar dbSNP gnomAD v4
2g.144389688G>ACA429441148ZEB2c.*3257C>T (n.*3257C>T)
c.2631C>T (p.Ser877=)
c.3408C>T (p.Ser1136=)
c.3296C>T (p.Ala1099Val)
n.3377C>T
c.3072C>T (p.Ser1024=)
c.3483C>T (p.Ser1161=)
c.*3125C>T (n.*3125C>T)
n.3508C>T
c.151+6724C>T (n.151+6724C>T)
c.628C>T (n.628C>T)
c.939C>T (p.Ser313=)
c.3405C>T (p.Ser1135=)
c.656-806C>T (n.656-806C>T)
c.3336C>T (p.Ser1112=)
c.3399C>T (p.Ser1133=)
c.3387C>T (p.Ser1129=)
 COSMIC
2g.144389688G>CCA16610248ZEB2c.*3257C>G (n.*3257C>G)
c.2631C>G (p.Ser877Arg)
c.3408C>G (p.Ser1136Arg)
c.3296C>G (p.Ala1099Gly)
n.3377C>G
c.3072C>G (p.Ser1024Arg)
c.3483C>G (p.Ser1161Arg)
c.*3125C>G (n.*3125C>G)
n.3508C>G
c.151+6724C>G (n.151+6724C>G)
c.628C>G (n.628C>G)
c.939C>G (p.Ser313Arg)
c.3405C>G (p.Ser1135Arg)
c.656-806C>G (n.656-806C>G)
c.3336C>G (p.Ser1112Arg)
c.3399C>G (p.Ser1133Arg)
c.3387C>G (p.Ser1129Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144389688G=CA1294881300ZEB2c.*3257C= (n.*3257C=)
c.2631C= (p.Ser877=)
c.3408C= (p.Ser1136=)
c.3296C= (p.Ala1099=)
n.3377C=
c.3072C= (p.Ser1024=)
c.3483C= (p.Ser1161=)
c.*3125C= (n.*3125C=)
n.3508C=
c.151+6724C= (n.151+6724C=)
c.628C= (n.628C=)
c.939C= (p.Ser313=)
c.3405C= (p.Ser1135=)
c.656-806C= (n.656-806C=)
c.3336C= (p.Ser1112=)
c.3399C= (p.Ser1133=)
c.3387C= (p.Ser1129=)
2g.144389688G>TCA348699376ZEB2c.*3257C>A (n.*3257C>A)
c.2631C>A (p.Ser877Arg)
c.3408C>A (p.Ser1136Arg)
c.3296C>A (p.Ala1099Glu)
n.3377C>A
c.3072C>A (p.Ser1024Arg)
c.3483C>A (p.Ser1161Arg)
c.*3125C>A (n.*3125C>A)
n.3508C>A
c.151+6724C>A (n.151+6724C>A)
c.628C>A (n.628C>A)
c.939C>A (p.Ser313Arg)
c.3405C>A (p.Ser1135Arg)
c.656-806C>A (n.656-806C>A)
c.3336C>A (p.Ser1112Arg)
c.3399C>A (p.Ser1133Arg)
c.3387C>A (p.Ser1129Arg)
2g.144389689C>ACA348699377ZEB2c.*3256G>T (n.*3256G>T)
c.2630G>T (p.Ser877Ile)
c.3407G>T (p.Ser1136Ile)
c.3295G>T (p.Ala1099Ser)
n.3376G>T
c.3071G>T (p.Ser1024Ile)
c.3482G>T (p.Ser1161Ile)
c.*3124G>T (n.*3124G>T)
n.3507G>T
c.151+6723G>T (n.151+6723G>T)
c.627G>T (n.627G>T)
c.938G>T (p.Ser313Ile)
c.3404G>T (p.Ser1135Ile)
c.656-807G>T (n.656-807G>T)
c.3335G>T (p.Ser1112Ile)
c.3398G>T (p.Ser1133Ile)
c.3386G>T (p.Ser1129Ile)
2g.144389689C>GCA348699378ZEB2c.*3256G>C (n.*3256G>C)
c.2630G>C (p.Ser877Thr)
c.3407G>C (p.Ser1136Thr)
c.3295G>C (p.Ala1099Pro)
n.3376G>C
c.3071G>C (p.Ser1024Thr)
c.3482G>C (p.Ser1161Thr)
c.*3124G>C (n.*3124G>C)
n.3507G>C
c.151+6723G>C (n.151+6723G>C)
c.627G>C (n.627G>C)
c.938G>C (p.Ser313Thr)
c.3404G>C (p.Ser1135Thr)
c.656-807G>C (n.656-807G>C)
c.3335G>C (p.Ser1112Thr)
c.3398G>C (p.Ser1133Thr)
c.3386G>C (p.Ser1129Thr)
2g.144389689C>TCA348699379ZEB2c.*3256G>A (n.*3256G>A)
c.2630G>A (p.Ser877Asn)
c.3407G>A (p.Ser1136Asn)
c.3295G>A (p.Ala1099Thr)
n.3376G>A
c.3071G>A (p.Ser1024Asn)
c.3482G>A (p.Ser1161Asn)
c.*3124G>A (n.*3124G>A)
n.3507G>A
c.151+6723G>A (n.151+6723G>A)
c.627G>A (n.627G>A)
c.938G>A (p.Ser313Asn)
c.3404G>A (p.Ser1135Asn)
c.656-807G>A (n.656-807G>A)
c.3335G>A (p.Ser1112Asn)
c.3398G>A (p.Ser1133Asn)
c.3386G>A (p.Ser1129Asn)
2g.144389690T>ACA348699380ZEB2c.*3255A>T (n.*3255A>T)
c.2629A>T (p.Ser877Cys)
c.3406A>T (p.Ser1136Cys)
c.3294A>T (p.Arg1098Ser)
n.3375A>T
c.3070A>T (p.Ser1024Cys)
c.3481A>T (p.Ser1161Cys)
c.*3123A>T (n.*3123A>T)
n.3506A>T
c.151+6722A>T (n.151+6722A>T)
c.626A>T (n.626A>T)
c.937A>T (p.Ser313Cys)
c.3403A>T (p.Ser1135Cys)
c.656-808A>T (n.656-808A>T)
c.3334A>T (p.Ser1112Cys)
c.3397A>T (p.Ser1133Cys)
c.3385A>T (p.Ser1129Cys)
2g.144389690T>CCA348699381ZEB2c.*3255A>G (n.*3255A>G)
c.2629A>G (p.Ser877Gly)
c.3406A>G (p.Ser1136Gly)
c.3294A>G (p.Arg1098=)
n.3375A>G
c.3070A>G (p.Ser1024Gly)
c.3481A>G (p.Ser1161Gly)
c.*3123A>G (n.*3123A>G)
n.3506A>G
c.151+6722A>G (n.151+6722A>G)
c.626A>G (n.626A>G)
c.937A>G (p.Ser313Gly)
c.3403A>G (p.Ser1135Gly)
c.656-808A>G (n.656-808A>G)
c.3334A>G (p.Ser1112Gly)
c.3397A>G (p.Ser1133Gly)
c.3385A>G (p.Ser1129Gly)
2g.144389690T>GCA348699382ZEB2c.*3255A>C (n.*3255A>C)
c.2629A>C (p.Ser877Arg)
c.3406A>C (p.Ser1136Arg)
c.3294A>C (p.Arg1098Ser)
n.3375A>C
c.3070A>C (p.Ser1024Arg)
c.3481A>C (p.Ser1161Arg)
c.*3123A>C (n.*3123A>C)
n.3506A>C
c.151+6722A>C (n.151+6722A>C)
c.626A>C (n.626A>C)
c.937A>C (p.Ser313Arg)
c.3403A>C (p.Ser1135Arg)
c.656-808A>C (n.656-808A>C)
c.3334A>C (p.Ser1112Arg)
c.3397A>C (p.Ser1133Arg)
c.3385A>C (p.Ser1129Arg)
2g.144389691C>ACA348699383ZEB2c.*3254G>T (n.*3254G>T)
c.2628G>T (p.Glu876Asp)
c.3405G>T (p.Glu1135Asp)
c.3293G>T (p.Arg1098Ile)
n.3374G>T
c.3069G>T (p.Glu1023Asp)
c.3480G>T (p.Glu1160Asp)
c.*3122G>T (n.*3122G>T)
n.3505G>T
c.151+6721G>T (n.151+6721G>T)
c.625G>T (n.625G>T)
c.936G>T (p.Glu312Asp)
c.3402G>T (p.Glu1134Asp)
c.656-809G>T (n.656-809G>T)
c.3333G>T (p.Glu1111Asp)
c.3396G>T (p.Glu1132Asp)
c.3384G>T (p.Glu1128Asp)
 gnomAD v4
2g.144389691C=CA1294881301ZEB2c.*3254G= (n.*3254G=)
c.2628G= (p.Glu876=)
c.3405G= (p.Glu1135=)
c.3293G= (p.Arg1098=)
n.3374G=
c.3069G= (p.Glu1023=)
c.3480G= (p.Glu1160=)
c.*3122G= (n.*3122G=)
n.3505G=
c.151+6721G= (n.151+6721G=)
c.625G= (n.625G=)
c.936G= (p.Glu312=)
c.3402G= (p.Glu1134=)
c.656-809G= (n.656-809G=)
c.3333G= (p.Glu1111=)
c.3396G= (p.Glu1132=)
c.3384G= (p.Glu1128=)
2g.144389691C>GCA348699384ZEB2c.*3254G>C (n.*3254G>C)
c.2628G>C (p.Glu876Asp)
c.3405G>C (p.Glu1135Asp)
c.3293G>C (p.Arg1098Thr)
n.3374G>C
c.3069G>C (p.Glu1023Asp)
c.3480G>C (p.Glu1160Asp)
c.*3122G>C (n.*3122G>C)
n.3505G>C
c.151+6721G>C (n.151+6721G>C)
c.625G>C (n.625G>C)
c.936G>C (p.Glu312Asp)
c.3402G>C (p.Glu1134Asp)
c.656-809G>C (n.656-809G>C)
c.3333G>C (p.Glu1111Asp)
c.3396G>C (p.Glu1132Asp)
c.3384G>C (p.Glu1128Asp)
 dbSNP
2g.144389691C>TCA429441149ZEB2c.*3254G>A (n.*3254G>A)
c.2628G>A (p.Glu876=)
c.3405G>A (p.Glu1135=)
c.3293G>A (p.Arg1098Lys)
n.3374G>A
c.3069G>A (p.Glu1023=)
c.3480G>A (p.Glu1160=)
c.*3122G>A (n.*3122G>A)
n.3505G>A
c.151+6721G>A (n.151+6721G>A)
c.625G>A (n.625G>A)
c.936G>A (p.Glu312=)
c.3402G>A (p.Glu1134=)
c.656-809G>A (n.656-809G>A)
c.3333G>A (p.Glu1111=)
c.3396G>A (p.Glu1132=)
c.3384G>A (p.Glu1128=)
 gnomAD v4
2g.144389692T>ACA348699386ZEB2c.*3253A>T (n.*3253A>T)
c.2627A>T (p.Glu876Val)
c.3404A>T (p.Glu1135Val)
c.3292A>T (p.Arg1098Ter)
n.3373A>T
c.3068A>T (p.Glu1023Val)
c.3479A>T (p.Glu1160Val)
c.*3121A>T (n.*3121A>T)
n.3504A>T
c.151+6720A>T (n.151+6720A>T)
c.624A>T (n.624A>T)
c.935A>T (p.Glu312Val)
c.3401A>T (p.Glu1134Val)
c.656-810A>T (n.656-810A>T)
c.3332A>T (p.Glu1111Val)
c.3395A>T (p.Glu1132Val)
c.3383A>T (p.Glu1128Val)
2g.144389692T>CCA348699387ZEB2c.*3253A>G (n.*3253A>G)
c.2627A>G (p.Glu876Gly)
c.3404A>G (p.Glu1135Gly)
c.3292A>G (p.Arg1098Gly)
n.3373A>G
c.3068A>G (p.Glu1023Gly)
c.3479A>G (p.Glu1160Gly)
c.*3121A>G (n.*3121A>G)
n.3504A>G
c.151+6720A>G (n.151+6720A>G)
c.624A>G (n.624A>G)
c.935A>G (p.Glu312Gly)
c.3401A>G (p.Glu1134Gly)
c.656-810A>G (n.656-810A>G)
c.3332A>G (p.Glu1111Gly)
c.3395A>G (p.Glu1132Gly)
c.3383A>G (p.Glu1128Gly)
2g.144389692T>GCA348699385ZEB2c.*3253A>C (n.*3253A>C)
c.2627A>C (p.Glu876Ala)
c.3404A>C (p.Glu1135Ala)
c.3292A>C (p.Arg1098=)
n.3373A>C
c.3068A>C (p.Glu1023Ala)
c.3479A>C (p.Glu1160Ala)
c.*3121A>C (n.*3121A>C)
n.3504A>C
c.151+6720A>C (n.151+6720A>C)
c.624A>C (n.624A>C)
c.935A>C (p.Glu312Ala)
c.3401A>C (p.Glu1134Ala)
c.656-810A>C (n.656-810A>C)
c.3332A>C (p.Glu1111Ala)
c.3395A>C (p.Glu1132Ala)
c.3383A>C (p.Glu1128Ala)
2g.144389693C>ACA348699388ZEB2c.*3252G>T (n.*3252G>T)
c.2626G>T (p.Glu876Ter)
c.3403G>T (p.Glu1135Ter)
c.3291G>T (p.Ala1097=)
n.3372G>T
c.3067G>T (p.Glu1023Ter)
c.3478G>T (p.Glu1160Ter)
c.*3120G>T (n.*3120G>T)
n.3503G>T
c.151+6719G>T (n.151+6719G>T)
c.623G>T (n.623G>T)
c.934G>T (p.Glu312Ter)
c.3400G>T (p.Glu1134Ter)
c.656-811G>T (n.656-811G>T)
c.3331G>T (p.Glu1111Ter)
c.3394G>T (p.Glu1132Ter)
c.3382G>T (p.Glu1128Ter)
2g.144389693C>GCA348699389ZEB2c.*3252G>C (n.*3252G>C)
c.2626G>C (p.Glu876Gln)
c.3403G>C (p.Glu1135Gln)
c.3291G>C (p.Ala1097=)
n.3372G>C
c.3067G>C (p.Glu1023Gln)
c.3478G>C (p.Glu1160Gln)
c.*3120G>C (n.*3120G>C)
n.3503G>C
c.151+6719G>C (n.151+6719G>C)
c.623G>C (n.623G>C)
c.934G>C (p.Glu312Gln)
c.3400G>C (p.Glu1134Gln)
c.656-811G>C (n.656-811G>C)
c.3331G>C (p.Glu1111Gln)
c.3394G>C (p.Glu1132Gln)
c.3382G>C (p.Glu1128Gln)
2g.144389693C>TCA348699390ZEB2c.*3252G>A (n.*3252G>A)
c.2626G>A (p.Glu876Lys)
c.3403G>A (p.Glu1135Lys)
c.3291G>A (p.Ala1097=)
n.3372G>A
c.3067G>A (p.Glu1023Lys)
c.3478G>A (p.Glu1160Lys)
c.*3120G>A (n.*3120G>A)
n.3503G>A
c.151+6719G>A (n.151+6719G>A)
c.623G>A (n.623G>A)
c.934G>A (p.Glu312Lys)
c.3400G>A (p.Glu1134Lys)
c.656-811G>A (n.656-811G>A)
c.3331G>A (p.Glu1111Lys)
c.3394G>A (p.Glu1132Lys)
c.3382G>A (p.Glu1128Lys)
 COSMIC
2g.144389694G>ACA429441151ZEB2c.*3251C>T (n.*3251C>T)
c.2625C>T (p.Gly875=)
c.3402C>T (p.Gly1134=)
c.3290C>T (p.Ala1097Val)
n.3371C>T
c.3066C>T (p.Gly1022=)
c.3477C>T (p.Gly1159=)
c.*3119C>T (n.*3119C>T)
n.3502C>T
c.151+6718C>T (n.151+6718C>T)
c.622C>T (n.622C>T)
c.933C>T (p.Gly311=)
c.3399C>T (p.Gly1133=)
c.656-812C>T (n.656-812C>T)
c.3330C>T (p.Gly1110=)
c.3393C>T (p.Gly1131=)
c.3381C>T (p.Gly1127=)
 ClinVar
2g.144389694G>CCA429441152ZEB2c.*3251C>G (n.*3251C>G)
c.2625C>G (p.Gly875=)
c.3402C>G (p.Gly1134=)
c.3290C>G (p.Ala1097Gly)
n.3371C>G
c.3066C>G (p.Gly1022=)
c.3477C>G (p.Gly1159=)
c.*3119C>G (n.*3119C>G)
n.3502C>G
c.151+6718C>G (n.151+6718C>G)
c.622C>G (n.622C>G)
c.933C>G (p.Gly311=)
c.3399C>G (p.Gly1133=)
c.656-812C>G (n.656-812C>G)
c.3330C>G (p.Gly1110=)
c.3393C>G (p.Gly1131=)
c.3381C>G (p.Gly1127=)
2g.144389694G=CA1294881302ZEB2c.*3251C= (n.*3251C=)
c.2625C= (p.Gly875=)
c.3402C= (p.Gly1134=)
c.3290C= (p.Ala1097=)
n.3371C=
c.3066C= (p.Gly1022=)
c.3477C= (p.Gly1159=)
c.*3119C= (n.*3119C=)
n.3502C=
c.151+6718C= (n.151+6718C=)
c.622C= (n.622C=)
c.933C= (p.Gly311=)
c.3399C= (p.Gly1133=)
c.656-812C= (n.656-812C=)
c.3330C= (p.Gly1110=)
c.3393C= (p.Gly1131=)
c.3381C= (p.Gly1127=)
2g.144389694G>TCA1898121ZEB2c.*3251C>A (n.*3251C>A)
c.2625C>A (p.Gly875=)
c.3402C>A (p.Gly1134=)
c.3290C>A (p.Ala1097Glu)
n.3371C>A
c.3066C>A (p.Gly1022=)
c.3477C>A (p.Gly1159=)
c.*3119C>A (n.*3119C>A)
n.3502C>A
c.151+6718C>A (n.151+6718C>A)
c.622C>A (n.622C>A)
c.933C>A (p.Gly311=)
c.3399C>A (p.Gly1133=)
c.656-812C>A (n.656-812C>A)
c.3330C>A (p.Gly1110=)
c.3393C>A (p.Gly1131=)
c.3381C>A (p.Gly1127=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389695C>ACA348699391ZEB2c.*3250G>T (n.*3250G>T)
c.2624G>T (p.Gly875Val)
c.3401G>T (p.Gly1134Val)
c.3289G>T (p.Ala1097Ser)
n.3370G>T
c.3065G>T (p.Gly1022Val)
c.3476G>T (p.Gly1159Val)
c.*3118G>T (n.*3118G>T)
n.3501G>T
c.151+6717G>T (n.151+6717G>T)
c.621G>T (n.621G>T)
c.932G>T (p.Gly311Val)
c.3398G>T (p.Gly1133Val)
c.656-813G>T (n.656-813G>T)
c.3329G>T (p.Gly1110Val)
c.3392G>T (p.Gly1131Val)
c.3380G>T (p.Gly1127Val)
2g.144389695C>GCA348699392ZEB2c.*3250G>C (n.*3250G>C)
c.2624G>C (p.Gly875Ala)
c.3401G>C (p.Gly1134Ala)
c.3289G>C (p.Ala1097Pro)
n.3370G>C
c.3065G>C (p.Gly1022Ala)
c.3476G>C (p.Gly1159Ala)
c.*3118G>C (n.*3118G>C)
n.3501G>C
c.151+6717G>C (n.151+6717G>C)
c.621G>C (n.621G>C)
c.932G>C (p.Gly311Ala)
c.3398G>C (p.Gly1133Ala)
c.656-813G>C (n.656-813G>C)
c.3329G>C (p.Gly1110Ala)
c.3392G>C (p.Gly1131Ala)
c.3380G>C (p.Gly1127Ala)
2g.144389695C>TCA348699393ZEB2c.*3250G>A (n.*3250G>A)
c.2624G>A (p.Gly875Asp)
c.3401G>A (p.Gly1134Asp)
c.3289G>A (p.Ala1097Thr)
n.3370G>A
c.3065G>A (p.Gly1022Asp)
c.3476G>A (p.Gly1159Asp)
c.*3118G>A (n.*3118G>A)
n.3501G>A
c.151+6717G>A (n.151+6717G>A)
c.621G>A (n.621G>A)
c.932G>A (p.Gly311Asp)
c.3398G>A (p.Gly1133Asp)
c.656-813G>A (n.656-813G>A)
c.3329G>A (p.Gly1110Asp)
c.3392G>A (p.Gly1131Asp)
c.3380G>A (p.Gly1127Asp)
 gnomAD v4
2g.144389695_144389705delinsCCATCCCTCGGCA1294881303ZEB2c.*3240_*3250delinsCCGAGGGATGG (n.*3240_*3250delinsCCGAGGGATGG)
c.2614_2624delinsCCGAGGGATGG (p.Pro872=)
c.3391_3401delinsCCGAGGGATGG (p.Pro1131=)
c.3279_3289delinsCCGAGGGATGG (p.Cys1093=)
n.3360_3370delinsCCGAGGGATGG
c.3055_3065delinsCCGAGGGATGG (p.Pro1019=)
c.3466_3476delinsCCGAGGGATGG (p.Pro1156=)
c.*3108_*3118delinsCCGAGGGATGG (n.*3108_*3118delinsCCGAGGGATGG)
n.3491_3501delinsCCGAGGGATGG
c.151+6707_151+6717delinsCCGAGGGATGG (n.151+6707_151+6717delinsCCGAGGGATGG)
c.611_621delinsCCGAGGGATGG (n.611_621delinsCCGAGGGATGG)
c.922_932delinsCCGAGGGATGG (p.Pro308=)
c.3388_3398delinsCCGAGGGATGG (p.Pro1130=)
c.656-823_656-813delinsCCGAGGGATGG (n.656-823_656-813delinsCCGAGGGATGG)
c.3319_3329delinsCCGAGGGATGG (p.Pro1107=)
c.3382_3392delinsCCGAGGGATGG (p.Pro1128=)
c.3370_3380delinsCCGAGGGATGG (p.Pro1124=)
2g.144389696C>ACA348699394ZEB2c.*3249G>T (n.*3249G>T)
c.2623G>T (p.Gly875Cys)
c.3400G>T (p.Gly1134Cys)
c.3288G>T (p.Met1096Ile)
n.3369G>T
c.3064G>T (p.Gly1022Cys)
c.3475G>T (p.Gly1159Cys)
c.*3117G>T (n.*3117G>T)
n.3500G>T
c.151+6716G>T (n.151+6716G>T)
c.620G>T (n.620G>T)
c.931G>T (p.Gly311Cys)
c.3397G>T (p.Gly1133Cys)
c.656-814G>T (n.656-814G>T)
c.3328G>T (p.Gly1110Cys)
c.3391G>T (p.Gly1131Cys)
c.3379G>T (p.Gly1127Cys)
2g.144389696C=CA1294881304ZEB2c.*3249G= (n.*3249G=)
c.2623G= (p.Gly875=)
c.3400G= (p.Gly1134=)
c.3288G= (p.Met1096=)
n.3369G=
c.3064G= (p.Gly1022=)
c.3475G= (p.Gly1159=)
c.*3117G= (n.*3117G=)
n.3500G=
c.151+6716G= (n.151+6716G=)
c.620G= (n.620G=)
c.931G= (p.Gly311=)
c.3397G= (p.Gly1133=)
c.656-814G= (n.656-814G=)
c.3328G= (p.Gly1110=)
c.3391G= (p.Gly1131=)
c.3379G= (p.Gly1127=)
2g.144389696C>GCA348699395ZEB2c.*3249G>C (n.*3249G>C)
c.2623G>C (p.Gly875Arg)
c.3400G>C (p.Gly1134Arg)
c.3288G>C (p.Met1096Ile)
n.3369G>C
c.3064G>C (p.Gly1022Arg)
c.3475G>C (p.Gly1159Arg)
c.*3117G>C (n.*3117G>C)
n.3500G>C
c.151+6716G>C (n.151+6716G>C)
c.620G>C (n.620G>C)
c.931G>C (p.Gly311Arg)
c.3397G>C (p.Gly1133Arg)
c.656-814G>C (n.656-814G>C)
c.3328G>C (p.Gly1110Arg)
c.3391G>C (p.Gly1131Arg)
c.3379G>C (p.Gly1127Arg)
2g.144389696C>TCA348699396ZEB2c.*3249G>A (n.*3249G>A)
c.2623G>A (p.Gly875Ser)
c.3400G>A (p.Gly1134Ser)
c.3288G>A (p.Met1096Ile)
n.3369G>A
c.3064G>A (p.Gly1022Ser)
c.3475G>A (p.Gly1159Ser)
c.*3117G>A (n.*3117G>A)
n.3500G>A
c.151+6716G>A (n.151+6716G>A)
c.620G>A (n.620G>A)
c.931G>A (p.Gly311Ser)
c.3397G>A (p.Gly1133Ser)
c.656-814G>A (n.656-814G>A)
c.3328G>A (p.Gly1110Ser)
c.3391G>A (p.Gly1131Ser)
c.3379G>A (p.Gly1127Ser)
 ClinVar dbSNP
2g.144389699_144389708delCA274525ZEB2c.*3240_*3249del (n.*3240_*3249del)
c.2614_2623del (p.Pro872AlafsTer?)
c.3391_3400del (p.Pro1131AlafsTer?)
c.3279_3288del (p.Cys1093TrpfsTer?)
n.3360_3369del
c.3055_3064del (p.Pro1019AlafsTer?)
c.3466_3475del (p.Pro1156AlafsTer?)
c.*3108_*3117del (n.*3108_*3117del)
n.3491_3500del
c.151+6707_151+6716del (n.151+6707_151+6716del)
c.611_620del (n.611_620del)
c.922_931del (p.Pro308AlafsTer?)
c.3388_3397del (p.Pro1130AlafsTer?)
c.656-823_656-814del (n.656-823_656-814del)
c.3319_3328del (p.Pro1107AlafsTer?)
c.3382_3391del (p.Pro1128AlafsTer?)
c.3370_3379del (p.Pro1124AlafsTer?)
 ClinVar dbSNP
2g.144389697A>CCA348699397ZEB2c.*3248T>G (n.*3248T>G)
c.2622T>G (p.Asp874Glu)
c.3399T>G (p.Asp1133Glu)
c.3287T>G (p.Met1096Arg)
n.3368T>G
c.3063T>G (p.Asp1021Glu)
c.3474T>G (p.Asp1158Glu)
c.*3116T>G (n.*3116T>G)
n.3499T>G
c.151+6715T>G (n.151+6715T>G)
c.619T>G (n.619T>G)
c.930T>G (p.Asp310Glu)
c.3396T>G (p.Asp1132Glu)
c.656-815T>G (n.656-815T>G)
c.3327T>G (p.Asp1109Glu)
c.3390T>G (p.Asp1130Glu)
c.3378T>G (p.Asp1126Glu)
2g.144389697A>GCA429441153ZEB2c.*3248T>C (n.*3248T>C)
c.2622T>C (p.Asp874=)
c.3399T>C (p.Asp1133=)
c.3287T>C (p.Met1096Thr)
n.3368T>C
c.3063T>C (p.Asp1021=)
c.3474T>C (p.Asp1158=)
c.*3116T>C (n.*3116T>C)
n.3499T>C
c.151+6715T>C (n.151+6715T>C)
c.619T>C (n.619T>C)
c.930T>C (p.Asp310=)
c.3396T>C (p.Asp1132=)
c.656-815T>C (n.656-815T>C)
c.3327T>C (p.Asp1109=)
c.3390T>C (p.Asp1130=)
c.3378T>C (p.Asp1126=)
2g.144389697A>TCA348699398ZEB2c.*3248T>A (n.*3248T>A)
c.2622T>A (p.Asp874Glu)
c.3399T>A (p.Asp1133Glu)
c.3287T>A (p.Met1096Lys)
n.3368T>A
c.3063T>A (p.Asp1021Glu)
c.3474T>A (p.Asp1158Glu)
c.*3116T>A (n.*3116T>A)
n.3499T>A
c.151+6715T>A (n.151+6715T>A)
c.619T>A (n.619T>A)
c.930T>A (p.Asp310Glu)
c.3396T>A (p.Asp1132Glu)
c.656-815T>A (n.656-815T>A)
c.3327T>A (p.Asp1109Glu)
c.3390T>A (p.Asp1130Glu)
c.3378T>A (p.Asp1126Glu)
2g.144389698T>ACA348699401ZEB2c.*3247A>T (n.*3247A>T)
c.2621A>T (p.Asp874Val)
c.3398A>T (p.Asp1133Val)
c.3286A>T (p.Met1096Leu)
n.3367A>T
c.3062A>T (p.Asp1021Val)
c.3473A>T (p.Asp1158Val)
c.*3115A>T (n.*3115A>T)
n.3498A>T
c.151+6714A>T (n.151+6714A>T)
c.618A>T (n.618A>T)
c.929A>T (p.Asp310Val)
c.3395A>T (p.Asp1132Val)
c.656-816A>T (n.656-816A>T)
c.3326A>T (p.Asp1109Val)
c.3389A>T (p.Asp1130Val)
c.3377A>T (p.Asp1126Val)
2g.144389698T>CCA348699400ZEB2c.*3247A>G (n.*3247A>G)
c.2621A>G (p.Asp874Gly)
c.3398A>G (p.Asp1133Gly)
c.3286A>G (p.Met1096Val)
n.3367A>G
c.3062A>G (p.Asp1021Gly)
c.3473A>G (p.Asp1158Gly)
c.*3115A>G (n.*3115A>G)
n.3498A>G
c.151+6714A>G (n.151+6714A>G)
c.618A>G (n.618A>G)
c.929A>G (p.Asp310Gly)
c.3395A>G (p.Asp1132Gly)
c.656-816A>G (n.656-816A>G)
c.3326A>G (p.Asp1109Gly)
c.3389A>G (p.Asp1130Gly)
c.3377A>G (p.Asp1126Gly)
2g.144389698T>GCA348699399ZEB2c.*3247A>C (n.*3247A>C)
c.2621A>C (p.Asp874Ala)
c.3398A>C (p.Asp1133Ala)
c.3286A>C (p.Met1096Leu)
n.3367A>C
c.3062A>C (p.Asp1021Ala)
c.3473A>C (p.Asp1158Ala)
c.*3115A>C (n.*3115A>C)
n.3498A>C
c.151+6714A>C (n.151+6714A>C)
c.618A>C (n.618A>C)
c.929A>C (p.Asp310Ala)
c.3395A>C (p.Asp1132Ala)
c.656-816A>C (n.656-816A>C)
c.3326A>C (p.Asp1109Ala)
c.3389A>C (p.Asp1130Ala)
c.3377A>C (p.Asp1126Ala)
2g.144389699C>ACA348699402ZEB2c.*3246G>T (n.*3246G>T)
c.2620G>T (p.Asp874Tyr)
c.3397G>T (p.Asp1133Tyr)
c.3285G>T (p.Gly1095=)
n.3366G>T
c.3061G>T (p.Asp1021Tyr)
c.3472G>T (p.Asp1158Tyr)
c.*3114G>T (n.*3114G>T)
n.3497G>T
c.151+6713G>T (n.151+6713G>T)
c.617G>T (n.617G>T)
c.928G>T (p.Asp310Tyr)
c.3394G>T (p.Asp1132Tyr)
c.656-817G>T (n.656-817G>T)
c.3325G>T (p.Asp1109Tyr)
c.3388G>T (p.Asp1130Tyr)
c.3376G>T (p.Asp1126Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.144389699C=CA1294881305ZEB2c.*3246G= (n.*3246G=)
c.2620G= (p.Asp874=)
c.3397G= (p.Asp1133=)
c.3285G= (p.Gly1095=)
n.3366G=
c.3061G= (p.Asp1021=)
c.3472G= (p.Asp1158=)
c.*3114G= (n.*3114G=)
n.3497G=
c.151+6713G= (n.151+6713G=)
c.617G= (n.617G=)
c.928G= (p.Asp310=)
c.3394G= (p.Asp1132=)
c.656-817G= (n.656-817G=)
c.3325G= (p.Asp1109=)
c.3388G= (p.Asp1130=)
c.3376G= (p.Asp1126=)
2g.144389699C>GCA348699403ZEB2c.*3246G>C (n.*3246G>C)
c.2620G>C (p.Asp874His)
c.3397G>C (p.Asp1133His)
c.3285G>C (p.Gly1095=)
n.3366G>C
c.3061G>C (p.Asp1021His)
c.3472G>C (p.Asp1158His)
c.*3114G>C (n.*3114G>C)
n.3497G>C
c.151+6713G>C (n.151+6713G>C)
c.617G>C (n.617G>C)
c.928G>C (p.Asp310His)
c.3394G>C (p.Asp1132His)
c.656-817G>C (n.656-817G>C)
c.3325G>C (p.Asp1109His)
c.3388G>C (p.Asp1130His)
c.3376G>C (p.Asp1126His)
2g.144389699C>TCA348699404ZEB2c.*3246G>A (n.*3246G>A)
c.2620G>A (p.Asp874Asn)
c.3397G>A (p.Asp1133Asn)
c.3285G>A (p.Gly1095=)
n.3366G>A
c.3061G>A (p.Asp1021Asn)
c.3472G>A (p.Asp1158Asn)
c.*3114G>A (n.*3114G>A)
n.3497G>A
c.151+6713G>A (n.151+6713G>A)
c.617G>A (n.617G>A)
c.928G>A (p.Asp310Asn)
c.3394G>A (p.Asp1132Asn)
c.656-817G>A (n.656-817G>A)
c.3325G>A (p.Asp1109Asn)
c.3388G>A (p.Asp1130Asn)
c.3376G>A (p.Asp1126Asn)
 dbSNP

Number of alleles fetched