Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389499C>ACA348698652ZEB2c.*3446G>T (n.*3446G>T)
c.2820G>T (p.Met940Ile)
c.3597G>T (p.Met1199Ile)
c.3485G>T (p.Trp1162Leu)
n.3566G>T
c.3261G>T (p.Met1087Ile)
c.3672G>T (p.Met1224Ile)
c.*3314G>T (n.*3314G>T)
n.3697G>T
c.151+6913G>T (n.151+6913G>T)
c.817G>T (n.817G>T)
c.1128G>T (p.Met376Ile)
c.3594G>T (p.Met1198Ile)
c.656-617G>T (n.656-617G>T)
c.3525G>T (p.Met1175Ile)
c.3588G>T (p.Met1196Ile)
c.3576G>T (p.Met1192Ile)
2g.144389499C>GCA348698653ZEB2c.*3446G>C (n.*3446G>C)
c.2820G>C (p.Met940Ile)
c.3597G>C (p.Met1199Ile)
c.3485G>C (p.Trp1162Ser)
n.3566G>C
c.3261G>C (p.Met1087Ile)
c.3672G>C (p.Met1224Ile)
c.*3314G>C (n.*3314G>C)
n.3697G>C
c.151+6913G>C (n.151+6913G>C)
c.817G>C (n.817G>C)
c.1128G>C (p.Met376Ile)
c.3594G>C (p.Met1198Ile)
c.656-617G>C (n.656-617G>C)
c.3525G>C (p.Met1175Ile)
c.3588G>C (p.Met1196Ile)
c.3576G>C (p.Met1192Ile)
2g.144389499C>TCA348698654ZEB2c.*3446G>A (n.*3446G>A)
c.2820G>A (p.Met940Ile)
c.3597G>A (p.Met1199Ile)
c.3485G>A (p.Trp1162Ter)
n.3566G>A
c.3261G>A (p.Met1087Ile)
c.3672G>A (p.Met1224Ile)
c.*3314G>A (n.*3314G>A)
n.3697G>A
c.151+6913G>A (n.151+6913G>A)
c.817G>A (n.817G>A)
c.1128G>A (p.Met376Ile)
c.3594G>A (p.Met1198Ile)
c.656-617G>A (n.656-617G>A)
c.3525G>A (p.Met1175Ile)
c.3588G>A (p.Met1196Ile)
c.3576G>A (p.Met1192Ile)
 gnomAD v4
2g.144389500A>CCA348698655ZEB2c.*3445T>G (n.*3445T>G)
c.2819T>G (p.Met940Arg)
c.3596T>G (p.Met1199Arg)
c.3484T>G (p.Trp1162Gly)
n.3565T>G
c.3260T>G (p.Met1087Arg)
c.3671T>G (p.Met1224Arg)
c.*3313T>G (n.*3313T>G)
n.3696T>G
c.151+6912T>G (n.151+6912T>G)
c.816T>G (n.816T>G)
c.1127T>G (p.Met376Arg)
c.3593T>G (p.Met1198Arg)
c.656-618T>G (n.656-618T>G)
c.3524T>G (p.Met1175Arg)
c.3587T>G (p.Met1196Arg)
c.3575T>G (p.Met1192Arg)
2g.144389500A>GCA348698656ZEB2c.*3445T>C (n.*3445T>C)
c.2819T>C (p.Met940Thr)
c.3596T>C (p.Met1199Thr)
c.3484T>C (p.Trp1162Arg)
n.3565T>C
c.3260T>C (p.Met1087Thr)
c.3671T>C (p.Met1224Thr)
c.*3313T>C (n.*3313T>C)
n.3696T>C
c.151+6912T>C (n.151+6912T>C)
c.816T>C (n.816T>C)
c.1127T>C (p.Met376Thr)
c.3593T>C (p.Met1198Thr)
c.656-618T>C (n.656-618T>C)
c.3524T>C (p.Met1175Thr)
c.3587T>C (p.Met1196Thr)
c.3575T>C (p.Met1192Thr)
2g.144389500A>TCA348698657ZEB2c.*3445T>A (n.*3445T>A)
c.2819T>A (p.Met940Lys)
c.3596T>A (p.Met1199Lys)
c.3484T>A (p.Trp1162Arg)
n.3565T>A
c.3260T>A (p.Met1087Lys)
c.3671T>A (p.Met1224Lys)
c.*3313T>A (n.*3313T>A)
n.3696T>A
c.151+6912T>A (n.151+6912T>A)
c.816T>A (n.816T>A)
c.1127T>A (p.Met376Lys)
c.3593T>A (p.Met1198Lys)
c.656-618T>A (n.656-618T>A)
c.3524T>A (p.Met1175Lys)
c.3587T>A (p.Met1196Lys)
c.3575T>A (p.Met1192Lys)
2g.144389501T>ACA348698660ZEB2c.*3444A>T (n.*3444A>T)
c.2818A>T (p.Met940Leu)
c.3595A>T (p.Met1199Leu)
c.3483A>T (p.Lys1161Asn)
n.3564A>T
c.3259A>T (p.Met1087Leu)
c.3670A>T (p.Met1224Leu)
c.*3312A>T (n.*3312A>T)
n.3695A>T
c.151+6911A>T (n.151+6911A>T)
c.815A>T (n.815A>T)
c.1126A>T (p.Met376Leu)
c.3592A>T (p.Met1198Leu)
c.656-619A>T (n.656-619A>T)
c.3523A>T (p.Met1175Leu)
c.3586A>T (p.Met1196Leu)
c.3574A>T (p.Met1192Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389501T>CCA348698659ZEB2c.*3444A>G (n.*3444A>G)
c.2818A>G (p.Met940Val)
c.3595A>G (p.Met1199Val)
c.3483A>G (p.Lys1161=)
n.3564A>G
c.3259A>G (p.Met1087Val)
c.3670A>G (p.Met1224Val)
c.*3312A>G (n.*3312A>G)
n.3695A>G
c.151+6911A>G (n.151+6911A>G)
c.815A>G (n.815A>G)
c.1126A>G (p.Met376Val)
c.3592A>G (p.Met1198Val)
c.656-619A>G (n.656-619A>G)
c.3523A>G (p.Met1175Val)
c.3586A>G (p.Met1196Val)
c.3574A>G (p.Met1192Val)
2g.144389501T>GCA348698658ZEB2c.*3444A>C (n.*3444A>C)
c.2818A>C (p.Met940Leu)
c.3595A>C (p.Met1199Leu)
c.3483A>C (p.Lys1161Asn)
n.3564A>C
c.3259A>C (p.Met1087Leu)
c.3670A>C (p.Met1224Leu)
c.*3312A>C (n.*3312A>C)
n.3695A>C
c.151+6911A>C (n.151+6911A>C)
c.815A>C (n.815A>C)
c.1126A>C (p.Met376Leu)
c.3592A>C (p.Met1198Leu)
c.656-619A>C (n.656-619A>C)
c.3523A>C (p.Met1175Leu)
c.3586A>C (p.Met1196Leu)
c.3574A>C (p.Met1192Leu)
2g.144389501T=CA1294881226ZEB2c.*3444A= (n.*3444A=)
c.2818A= (p.Met940=)
c.3595A= (p.Met1199=)
c.3483A= (p.Lys1161=)
n.3564A=
c.3259A= (p.Met1087=)
c.3670A= (p.Met1224=)
c.*3312A= (n.*3312A=)
n.3695A=
c.151+6911A= (n.151+6911A=)
c.815A= (n.815A=)
c.1126A= (p.Met376=)
c.3592A= (p.Met1198=)
c.656-619A= (n.656-619A=)
c.3523A= (p.Met1175=)
c.3586A= (p.Met1196=)
c.3574A= (p.Met1192=)
2g.144389502T>ACA348698661ZEB2c.*3443A>T (n.*3443A>T)
c.2817A>T (p.Lys939Asn)
c.3594A>T (p.Lys1198Asn)
c.3482A>T (p.Lys1161Ile)
n.3563A>T
c.3258A>T (p.Lys1086Asn)
c.3669A>T (p.Lys1223Asn)
c.*3311A>T (n.*3311A>T)
n.3694A>T
c.151+6910A>T (n.151+6910A>T)
c.814A>T (n.814A>T)
c.1125A>T (p.Lys375Asn)
c.3591A>T (p.Lys1197Asn)
c.656-620A>T (n.656-620A>T)
c.3522A>T (p.Lys1174Asn)
c.3585A>T (p.Lys1195Asn)
c.3573A>T (p.Lys1191Asn)
2g.144389502T>CCA429217464ZEB2c.*3443A>G (n.*3443A>G)
c.2817A>G (p.Lys939=)
c.3594A>G (p.Lys1198=)
c.3482A>G (p.Lys1161Arg)
n.3563A>G
c.3258A>G (p.Lys1086=)
c.3669A>G (p.Lys1223=)
c.*3311A>G (n.*3311A>G)
n.3694A>G
c.151+6910A>G (n.151+6910A>G)
c.814A>G (n.814A>G)
c.1125A>G (p.Lys375=)
c.3591A>G (p.Lys1197=)
c.656-620A>G (n.656-620A>G)
c.3522A>G (p.Lys1174=)
c.3585A>G (p.Lys1195=)
c.3573A>G (p.Lys1191=)
 gnomAD v4
2g.144389502T>GCA348698662ZEB2c.*3443A>C (n.*3443A>C)
c.2817A>C (p.Lys939Asn)
c.3594A>C (p.Lys1198Asn)
c.3482A>C (p.Lys1161Thr)
n.3563A>C
c.3258A>C (p.Lys1086Asn)
c.3669A>C (p.Lys1223Asn)
c.*3311A>C (n.*3311A>C)
n.3694A>C
c.151+6910A>C (n.151+6910A>C)
c.814A>C (n.814A>C)
c.1125A>C (p.Lys375Asn)
c.3591A>C (p.Lys1197Asn)
c.656-620A>C (n.656-620A>C)
c.3522A>C (p.Lys1174Asn)
c.3585A>C (p.Lys1195Asn)
c.3573A>C (p.Lys1191Asn)
2g.144389503T>ACA348698663ZEB2c.*3442A>T (n.*3442A>T)
c.2816A>T (p.Lys939Ile)
c.3593A>T (p.Lys1198Ile)
c.3481A>T (p.Lys1161Ter)
n.3562A>T
c.3257A>T (p.Lys1086Ile)
c.3668A>T (p.Lys1223Ile)
c.*3310A>T (n.*3310A>T)
n.3693A>T
c.151+6909A>T (n.151+6909A>T)
c.813A>T (n.813A>T)
c.1124A>T (p.Lys375Ile)
c.3590A>T (p.Lys1197Ile)
c.656-621A>T (n.656-621A>T)
c.3521A>T (p.Lys1174Ile)
c.3584A>T (p.Lys1195Ile)
c.3572A>T (p.Lys1191Ile)
2g.144389503T>CCA348698665ZEB2c.*3442A>G (n.*3442A>G)
c.2816A>G (p.Lys939Arg)
c.3593A>G (p.Lys1198Arg)
c.3481A>G (p.Lys1161Glu)
n.3562A>G
c.3257A>G (p.Lys1086Arg)
c.3668A>G (p.Lys1223Arg)
c.*3310A>G (n.*3310A>G)
n.3693A>G
c.151+6909A>G (n.151+6909A>G)
c.813A>G (n.813A>G)
c.1124A>G (p.Lys375Arg)
c.3590A>G (p.Lys1197Arg)
c.656-621A>G (n.656-621A>G)
c.3521A>G (p.Lys1174Arg)
c.3584A>G (p.Lys1195Arg)
c.3572A>G (p.Lys1191Arg)
2g.144389503T>GCA348698664ZEB2c.*3442A>C (n.*3442A>C)
c.2816A>C (p.Lys939Thr)
c.3593A>C (p.Lys1198Thr)
c.3481A>C (p.Lys1161Gln)
n.3562A>C
c.3257A>C (p.Lys1086Thr)
c.3668A>C (p.Lys1223Thr)
c.*3310A>C (n.*3310A>C)
n.3693A>C
c.151+6909A>C (n.151+6909A>C)
c.813A>C (n.813A>C)
c.1124A>C (p.Lys375Thr)
c.3590A>C (p.Lys1197Thr)
c.656-621A>C (n.656-621A>C)
c.3521A>C (p.Lys1174Thr)
c.3584A>C (p.Lys1195Thr)
c.3572A>C (p.Lys1191Thr)
2g.144389504T>ACA348698666ZEB2c.*3441A>T (n.*3441A>T)
c.2815A>T (p.Lys939Ter)
c.3592A>T (p.Lys1198Ter)
c.3480A>T (p.Gly1160=)
n.3561A>T
c.3256A>T (p.Lys1086Ter)
c.3667A>T (p.Lys1223Ter)
c.*3309A>T (n.*3309A>T)
n.3692A>T
c.151+6908A>T (n.151+6908A>T)
c.812A>T (n.812A>T)
c.1123A>T (p.Lys375Ter)
c.3589A>T (p.Lys1197Ter)
c.656-622A>T (n.656-622A>T)
c.3520A>T (p.Lys1174Ter)
c.3583A>T (p.Lys1195Ter)
c.3571A>T (p.Lys1191Ter)
2g.144389504T>CCA348698667ZEB2c.*3441A>G (n.*3441A>G)
c.2815A>G (p.Lys939Glu)
c.3592A>G (p.Lys1198Glu)
c.3480A>G (p.Gly1160=)
n.3561A>G
c.3256A>G (p.Lys1086Glu)
c.3667A>G (p.Lys1223Glu)
c.*3309A>G (n.*3309A>G)
n.3692A>G
c.151+6908A>G (n.151+6908A>G)
c.812A>G (n.812A>G)
c.1123A>G (p.Lys375Glu)
c.3589A>G (p.Lys1197Glu)
c.656-622A>G (n.656-622A>G)
c.3520A>G (p.Lys1174Glu)
c.3583A>G (p.Lys1195Glu)
c.3571A>G (p.Lys1191Glu)
2g.144389504T>GCA348698668ZEB2c.*3441A>C (n.*3441A>C)
c.2815A>C (p.Lys939Gln)
c.3592A>C (p.Lys1198Gln)
c.3480A>C (p.Gly1160=)
n.3561A>C
c.3256A>C (p.Lys1086Gln)
c.3667A>C (p.Lys1223Gln)
c.*3309A>C (n.*3309A>C)
n.3692A>C
c.151+6908A>C (n.151+6908A>C)
c.812A>C (n.812A>C)
c.1123A>C (p.Lys375Gln)
c.3589A>C (p.Lys1197Gln)
c.656-622A>C (n.656-622A>C)
c.3520A>C (p.Lys1174Gln)
c.3583A>C (p.Lys1195Gln)
c.3571A>C (p.Lys1191Gln)
2g.144389505C>ACA429217467ZEB2c.*3440G>T (n.*3440G>T)
c.2814G>T (p.Gly938=)
c.3591G>T (p.Gly1197=)
c.3479G>T (p.Gly1160Val)
n.3560G>T
c.3255G>T (p.Gly1085=)
c.3666G>T (p.Gly1222=)
c.*3308G>T (n.*3308G>T)
n.3691G>T
c.151+6907G>T (n.151+6907G>T)
c.811G>T (n.811G>T)
c.1122G>T (p.Gly374=)
c.3588G>T (p.Gly1196=)
c.656-623G>T (n.656-623G>T)
c.3519G>T (p.Gly1173=)
c.3582G>T (p.Gly1194=)
c.3570G>T (p.Gly1190=)
2g.144389505C=CA1294881227ZEB2c.*3440G= (n.*3440G=)
c.2814G= (p.Gly938=)
c.3591G= (p.Gly1197=)
c.3479G= (p.Gly1160=)
n.3560G=
c.3255G= (p.Gly1085=)
c.3666G= (p.Gly1222=)
c.*3308G= (n.*3308G=)
n.3691G=
c.151+6907G= (n.151+6907G=)
c.811G= (n.811G=)
c.1122G= (p.Gly374=)
c.3588G= (p.Gly1196=)
c.656-623G= (n.656-623G=)
c.3519G= (p.Gly1173=)
c.3582G= (p.Gly1194=)
c.3570G= (p.Gly1190=)
2g.144389505C>GCA429217465ZEB2c.*3440G>C (n.*3440G>C)
c.2814G>C (p.Gly938=)
c.3591G>C (p.Gly1197=)
c.3479G>C (p.Gly1160Ala)
n.3560G>C
c.3255G>C (p.Gly1085=)
c.3666G>C (p.Gly1222=)
c.*3308G>C (n.*3308G>C)
n.3691G>C
c.151+6907G>C (n.151+6907G>C)
c.811G>C (n.811G>C)
c.1122G>C (p.Gly374=)
c.3588G>C (p.Gly1196=)
c.656-623G>C (n.656-623G>C)
c.3519G>C (p.Gly1173=)
c.3582G>C (p.Gly1194=)
c.3570G>C (p.Gly1190=)
2g.144389505C>TCA429217466ZEB2c.*3440G>A (n.*3440G>A)
c.2814G>A (p.Gly938=)
c.3591G>A (p.Gly1197=)
c.3479G>A (p.Gly1160Glu)
n.3560G>A
c.3255G>A (p.Gly1085=)
c.3666G>A (p.Gly1222=)
c.*3308G>A (n.*3308G>A)
n.3691G>A
c.151+6907G>A (n.151+6907G>A)
c.811G>A (n.811G>A)
c.1122G>A (p.Gly374=)
c.3588G>A (p.Gly1196=)
c.656-623G>A (n.656-623G>A)
c.3519G>A (p.Gly1173=)
c.3582G>A (p.Gly1194=)
c.3570G>A (p.Gly1190=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144389506C>ACA348698669ZEB2c.*3439G>T (n.*3439G>T)
c.2813G>T (p.Gly938Val)
c.3590G>T (p.Gly1197Val)
c.3478G>T (p.Gly1160Ter)
n.3559G>T
c.3254G>T (p.Gly1085Val)
c.3665G>T (p.Gly1222Val)
c.*3307G>T (n.*3307G>T)
n.3690G>T
c.151+6906G>T (n.151+6906G>T)
c.810G>T (n.810G>T)
c.1121G>T (p.Gly374Val)
c.3587G>T (p.Gly1196Val)
c.656-624G>T (n.656-624G>T)
c.3518G>T (p.Gly1173Val)
c.3581G>T (p.Gly1194Val)
c.3569G>T (p.Gly1190Val)
2g.144389506C>GCA348698670ZEB2c.*3439G>C (n.*3439G>C)
c.2813G>C (p.Gly938Ala)
c.3590G>C (p.Gly1197Ala)
c.3478G>C (p.Gly1160Arg)
n.3559G>C
c.3254G>C (p.Gly1085Ala)
c.3665G>C (p.Gly1222Ala)
c.*3307G>C (n.*3307G>C)
n.3690G>C
c.151+6906G>C (n.151+6906G>C)
c.810G>C (n.810G>C)
c.1121G>C (p.Gly374Ala)
c.3587G>C (p.Gly1196Ala)
c.656-624G>C (n.656-624G>C)
c.3518G>C (p.Gly1173Ala)
c.3581G>C (p.Gly1194Ala)
c.3569G>C (p.Gly1190Ala)
 gnomAD v4
2g.144389506C>TCA348698671ZEB2c.*3439G>A (n.*3439G>A)
c.2813G>A (p.Gly938Glu)
c.3590G>A (p.Gly1197Glu)
c.3478G>A (p.Gly1160Arg)
n.3559G>A
c.3254G>A (p.Gly1085Glu)
c.3665G>A (p.Gly1222Glu)
c.*3307G>A (n.*3307G>A)
n.3690G>A
c.151+6906G>A (n.151+6906G>A)
c.810G>A (n.810G>A)
c.1121G>A (p.Gly374Glu)
c.3587G>A (p.Gly1196Glu)
c.656-624G>A (n.656-624G>A)
c.3518G>A (p.Gly1173Glu)
c.3581G>A (p.Gly1194Glu)
c.3569G>A (p.Gly1190Glu)
2g.144389507C>ACA348698806ZEB2c.*3438G>T (n.*3438G>T)
c.2812G>T (p.Gly938Trp)
c.3589G>T (p.Gly1197Trp)
c.3477G>T (p.Met1159Ile)
n.3558G>T
c.3253G>T (p.Gly1085Trp)
c.3664G>T (p.Gly1222Trp)
c.*3306G>T (n.*3306G>T)
n.3689G>T
c.151+6905G>T (n.151+6905G>T)
c.809G>T (n.809G>T)
c.1120G>T (p.Gly374Trp)
c.3586G>T (p.Gly1196Trp)
c.656-625G>T (n.656-625G>T)
c.3517G>T (p.Gly1173Trp)
c.3580G>T (p.Gly1194Trp)
c.3568G>T (p.Gly1190Trp)
2g.144389507C>GCA348698809ZEB2c.*3438G>C (n.*3438G>C)
c.2812G>C (p.Gly938Arg)
c.3589G>C (p.Gly1197Arg)
c.3477G>C (p.Met1159Ile)
n.3558G>C
c.3253G>C (p.Gly1085Arg)
c.3664G>C (p.Gly1222Arg)
c.*3306G>C (n.*3306G>C)
n.3689G>C
c.151+6905G>C (n.151+6905G>C)
c.809G>C (n.809G>C)
c.1120G>C (p.Gly374Arg)
c.3586G>C (p.Gly1196Arg)
c.656-625G>C (n.656-625G>C)
c.3517G>C (p.Gly1173Arg)
c.3580G>C (p.Gly1194Arg)
c.3568G>C (p.Gly1190Arg)
2g.144389507C>TCA348698810ZEB2c.*3438G>A (n.*3438G>A)
c.2812G>A (p.Gly938Arg)
c.3589G>A (p.Gly1197Arg)
c.3477G>A (p.Met1159Ile)
n.3558G>A
c.3253G>A (p.Gly1085Arg)
c.3664G>A (p.Gly1222Arg)
c.*3306G>A (n.*3306G>A)
n.3689G>A
c.151+6905G>A (n.151+6905G>A)
c.809G>A (n.809G>A)
c.1120G>A (p.Gly374Arg)
c.3586G>A (p.Gly1196Arg)
c.656-625G>A (n.656-625G>A)
c.3517G>A (p.Gly1173Arg)
c.3580G>A (p.Gly1194Arg)
c.3568G>A (p.Gly1190Arg)
 COSMIC
2g.144389508A>CCA348698811ZEB2c.*3437T>G (n.*3437T>G)
c.2811T>G (p.Asp937Glu)
c.3588T>G (p.Asp1196Glu)
c.3476T>G (p.Met1159Arg)
n.3557T>G
c.3252T>G (p.Asp1084Glu)
c.3663T>G (p.Asp1221Glu)
c.*3305T>G (n.*3305T>G)
n.3688T>G
c.151+6904T>G (n.151+6904T>G)
c.808T>G (n.808T>G)
c.1119T>G (p.Asp373Glu)
c.3585T>G (p.Asp1195Glu)
c.656-626T>G (n.656-626T>G)
c.3516T>G (p.Asp1172Glu)
c.3579T>G (p.Asp1193Glu)
c.3567T>G (p.Asp1189Glu)
2g.144389508A>GCA429441054ZEB2c.*3437T>C (n.*3437T>C)
c.2811T>C (p.Asp937=)
c.3588T>C (p.Asp1196=)
c.3476T>C (p.Met1159Thr)
n.3557T>C
c.3252T>C (p.Asp1084=)
c.3663T>C (p.Asp1221=)
c.*3305T>C (n.*3305T>C)
n.3688T>C
c.151+6904T>C (n.151+6904T>C)
c.808T>C (n.808T>C)
c.1119T>C (p.Asp373=)
c.3585T>C (p.Asp1195=)
c.656-626T>C (n.656-626T>C)
c.3516T>C (p.Asp1172=)
c.3579T>C (p.Asp1193=)
c.3567T>C (p.Asp1189=)
2g.144389508A>TCA348698812ZEB2c.*3437T>A (n.*3437T>A)
c.2811T>A (p.Asp937Glu)
c.3588T>A (p.Asp1196Glu)
c.3476T>A (p.Met1159Lys)
n.3557T>A
c.3252T>A (p.Asp1084Glu)
c.3663T>A (p.Asp1221Glu)
c.*3305T>A (n.*3305T>A)
n.3688T>A
c.151+6904T>A (n.151+6904T>A)
c.808T>A (n.808T>A)
c.1119T>A (p.Asp373Glu)
c.3585T>A (p.Asp1195Glu)
c.656-626T>A (n.656-626T>A)
c.3516T>A (p.Asp1172Glu)
c.3579T>A (p.Asp1193Glu)
c.3567T>A (p.Asp1189Glu)
2g.144389509T>ACA348698815ZEB2c.*3436A>T (n.*3436A>T)
c.2810A>T (p.Asp937Val)
c.3587A>T (p.Asp1196Val)
c.3475A>T (p.Met1159Leu)
n.3556A>T
c.3251A>T (p.Asp1084Val)
c.3662A>T (p.Asp1221Val)
c.*3304A>T (n.*3304A>T)
n.3687A>T
c.151+6903A>T (n.151+6903A>T)
c.807A>T (n.807A>T)
c.1118A>T (p.Asp373Val)
c.3584A>T (p.Asp1195Val)
c.656-627A>T (n.656-627A>T)
c.3515A>T (p.Asp1172Val)
c.3578A>T (p.Asp1193Val)
c.3566A>T (p.Asp1189Val)
2g.144389509T>CCA348698814ZEB2c.*3436A>G (n.*3436A>G)
c.2810A>G (p.Asp937Gly)
c.3587A>G (p.Asp1196Gly)
c.3475A>G (p.Met1159Val)
n.3556A>G
c.3251A>G (p.Asp1084Gly)
c.3662A>G (p.Asp1221Gly)
c.*3304A>G (n.*3304A>G)
n.3687A>G
c.151+6903A>G (n.151+6903A>G)
c.807A>G (n.807A>G)
c.1118A>G (p.Asp373Gly)
c.3584A>G (p.Asp1195Gly)
c.656-627A>G (n.656-627A>G)
c.3515A>G (p.Asp1172Gly)
c.3578A>G (p.Asp1193Gly)
c.3566A>G (p.Asp1189Gly)
2g.144389509T>GCA348698813ZEB2c.*3436A>C (n.*3436A>C)
c.2810A>C (p.Asp937Ala)
c.3587A>C (p.Asp1196Ala)
c.3475A>C (p.Met1159Leu)
n.3556A>C
c.3251A>C (p.Asp1084Ala)
c.3662A>C (p.Asp1221Ala)
c.*3304A>C (n.*3304A>C)
n.3687A>C
c.151+6903A>C (n.151+6903A>C)
c.807A>C (n.807A>C)
c.1118A>C (p.Asp373Ala)
c.3584A>C (p.Asp1195Ala)
c.656-627A>C (n.656-627A>C)
c.3515A>C (p.Asp1172Ala)
c.3578A>C (p.Asp1193Ala)
c.3566A>C (p.Asp1189Ala)
2g.144389510C>ACA348698818ZEB2c.*3435G>T (n.*3435G>T)
c.2809G>T (p.Asp937Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3474G>T (p.Arg1158Ser)
n.3555G>T
c.3250G>T (p.Asp1084Tyr)
c.3661G>T (p.Asp1221Tyr)
c.*3303G>T (n.*3303G>T)
n.3686G>T
c.151+6902G>T (n.151+6902G>T)
c.806G>T (n.806G>T)
c.1117G>T (p.Asp373Tyr)
c.3583G>T (p.Asp1195Tyr)
c.656-628G>T (n.656-628G>T)
c.3514G>T (p.Asp1172Tyr)
c.3577G>T (p.Asp1193Tyr)
c.3565G>T (p.Asp1189Tyr)
2g.144389510C>GCA348698820ZEB2c.*3435G>C (n.*3435G>C)
c.2809G>C (p.Asp937His)
c.3586G>C (p.Asp1196His)
c.3474G>C (p.Arg1158Ser)
n.3555G>C
c.3250G>C (p.Asp1084His)
c.3661G>C (p.Asp1221His)
c.*3303G>C (n.*3303G>C)
n.3686G>C
c.151+6902G>C (n.151+6902G>C)
c.806G>C (n.806G>C)
c.1117G>C (p.Asp373His)
c.3583G>C (p.Asp1195His)
c.656-628G>C (n.656-628G>C)
c.3514G>C (p.Asp1172His)
c.3577G>C (p.Asp1193His)
c.3565G>C (p.Asp1189His)
2g.144389510C>TCA348698821ZEB2c.*3435G>A (n.*3435G>A)
c.2809G>A (p.Asp937Asn)
c.3586G>A (p.Asp1196Asn)
c.3474G>A (p.Arg1158=)
n.3555G>A
c.3250G>A (p.Asp1084Asn)
c.3661G>A (p.Asp1221Asn)
c.*3303G>A (n.*3303G>A)
n.3686G>A
c.151+6902G>A (n.151+6902G>A)
c.806G>A (n.806G>A)
c.1117G>A (p.Asp373Asn)
c.3583G>A (p.Asp1195Asn)
c.656-628G>A (n.656-628G>A)
c.3514G>A (p.Asp1172Asn)
c.3577G>A (p.Asp1193Asn)
c.3565G>A (p.Asp1189Asn)
2g.144389511C>ACA348698823ZEB2c.*3434G>T (n.*3434G>T)
c.2808G>T (p.Glu936Asp)
c.3585G>T (p.Glu1195Asp)
c.3473G>T (p.Arg1158Met)
n.3554G>T
c.3249G>T (p.Glu1083Asp)
c.3660G>T (p.Glu1220Asp)
c.*3302G>T (n.*3302G>T)
n.3685G>T
c.151+6901G>T (n.151+6901G>T)
c.805G>T (n.805G>T)
c.1116G>T (p.Glu372Asp)
c.3582G>T (p.Glu1194Asp)
c.656-629G>T (n.656-629G>T)
c.3513G>T (p.Glu1171Asp)
c.3576G>T (p.Glu1192Asp)
c.3564G>T (p.Glu1188Asp)
2g.144389511C=CA1294881228ZEB2c.*3434G= (n.*3434G=)
c.2808G= (p.Glu936=)
c.3585G= (p.Glu1195=)
c.3473G= (p.Arg1158=)
n.3554G=
c.3249G= (p.Glu1083=)
c.3660G= (p.Glu1220=)
c.*3302G= (n.*3302G=)
n.3685G=
c.151+6901G= (n.151+6901G=)
c.805G= (n.805G=)
c.1116G= (p.Glu372=)
c.3582G= (p.Glu1194=)
c.656-629G= (n.656-629G=)
c.3513G= (p.Glu1171=)
c.3576G= (p.Glu1192=)
c.3564G= (p.Glu1188=)
2g.144389511C>GCA348698824ZEB2c.*3434G>C (n.*3434G>C)
c.2808G>C (p.Glu936Asp)
c.3585G>C (p.Glu1195Asp)
c.3473G>C (p.Arg1158Thr)
n.3554G>C
c.3249G>C (p.Glu1083Asp)
c.3660G>C (p.Glu1220Asp)
c.*3302G>C (n.*3302G>C)
n.3685G>C
c.151+6901G>C (n.151+6901G>C)
c.805G>C (n.805G>C)
c.1116G>C (p.Glu372Asp)
c.3582G>C (p.Glu1194Asp)
c.656-629G>C (n.656-629G>C)
c.3513G>C (p.Glu1171Asp)
c.3576G>C (p.Glu1192Asp)
c.3564G>C (p.Glu1188Asp)
2g.144389511C>TCA429441055ZEB2c.*3434G>A (n.*3434G>A)
c.2808G>A (p.Glu936=)
c.3585G>A (p.Glu1195=)
c.3473G>A (p.Arg1158Lys)
n.3554G>A
c.3249G>A (p.Glu1083=)
c.3660G>A (p.Glu1220=)
c.*3302G>A (n.*3302G>A)
n.3685G>A
c.151+6901G>A (n.151+6901G>A)
c.805G>A (n.805G>A)
c.1116G>A (p.Glu372=)
c.3582G>A (p.Glu1194=)
c.656-629G>A (n.656-629G>A)
c.3513G>A (p.Glu1171=)
c.3576G>A (p.Glu1192=)
c.3564G>A (p.Glu1188=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389512T>ACA348698826ZEB2c.*3433A>T (n.*3433A>T)
c.2807A>T (p.Glu936Val)
c.3584A>T (p.Glu1195Val)
c.3472A>T (p.Arg1158Trp)
n.3553A>T
c.3248A>T (p.Glu1083Val)
c.3659A>T (p.Glu1220Val)
c.*3301A>T (n.*3301A>T)
n.3684A>T
c.151+6900A>T (n.151+6900A>T)
c.804A>T (n.804A>T)
c.1115A>T (p.Glu372Val)
c.3581A>T (p.Glu1194Val)
c.656-630A>T (n.656-630A>T)
c.3512A>T (p.Glu1171Val)
c.3575A>T (p.Glu1192Val)
c.3563A>T (p.Glu1188Val)
2g.144389512T>CCA348698827ZEB2c.*3433A>G (n.*3433A>G)
c.2807A>G (p.Glu936Gly)
c.3584A>G (p.Glu1195Gly)
c.3472A>G (p.Arg1158Gly)
n.3553A>G
c.3248A>G (p.Glu1083Gly)
c.3659A>G (p.Glu1220Gly)
c.*3301A>G (n.*3301A>G)
n.3684A>G
c.151+6900A>G (n.151+6900A>G)
c.804A>G (n.804A>G)
c.1115A>G (p.Glu372Gly)
c.3581A>G (p.Glu1194Gly)
c.656-630A>G (n.656-630A>G)
c.3512A>G (p.Glu1171Gly)
c.3575A>G (p.Glu1192Gly)
c.3563A>G (p.Glu1188Gly)
2g.144389512T>GCA348698828ZEB2c.*3433A>C (n.*3433A>C)
c.2807A>C (p.Glu936Ala)
c.3584A>C (p.Glu1195Ala)
c.3472A>C (p.Arg1158=)
n.3553A>C
c.3248A>C (p.Glu1083Ala)
c.3659A>C (p.Glu1220Ala)
c.*3301A>C (n.*3301A>C)
n.3684A>C
c.151+6900A>C (n.151+6900A>C)
c.804A>C (n.804A>C)
c.1115A>C (p.Glu372Ala)
c.3581A>C (p.Glu1194Ala)
c.656-630A>C (n.656-630A>C)
c.3512A>C (p.Glu1171Ala)
c.3575A>C (p.Glu1192Ala)
c.3563A>C (p.Glu1188Ala)
 ClinVar
2g.144389513C>ACA348698830ZEB2c.*3432G>T (n.*3432G>T)
c.2806G>T (p.Glu936Ter)
c.3583G>T (p.Glu1195Ter)
c.3471G>T (p.Arg1157=)
n.3552G>T
c.3247G>T (p.Glu1083Ter)
c.3658G>T (p.Glu1220Ter)
c.*3300G>T (n.*3300G>T)
n.3683G>T
c.151+6899G>T (n.151+6899G>T)
c.803G>T (n.803G>T)
c.1114G>T (p.Glu372Ter)
c.3580G>T (p.Glu1194Ter)
c.656-631G>T (n.656-631G>T)
c.3511G>T (p.Glu1171Ter)
c.3574G>T (p.Glu1192Ter)
c.3562G>T (p.Glu1188Ter)
2g.144389513C>GCA348698832ZEB2c.*3432G>C (n.*3432G>C)
c.2806G>C (p.Glu936Gln)
c.3583G>C (p.Glu1195Gln)
c.3471G>C (p.Arg1157=)
n.3552G>C
c.3247G>C (p.Glu1083Gln)
c.3658G>C (p.Glu1220Gln)
c.*3300G>C (n.*3300G>C)
n.3683G>C
c.151+6899G>C (n.151+6899G>C)
c.803G>C (n.803G>C)
c.1114G>C (p.Glu372Gln)
c.3580G>C (p.Glu1194Gln)
c.656-631G>C (n.656-631G>C)
c.3511G>C (p.Glu1171Gln)
c.3574G>C (p.Glu1192Gln)
c.3562G>C (p.Glu1188Gln)
 gnomAD v4
2g.144389513C>TCA348698834ZEB2c.*3432G>A (n.*3432G>A)
c.2806G>A (p.Glu936Lys)
c.3583G>A (p.Glu1195Lys)
c.3471G>A (p.Arg1157=)
n.3552G>A
c.3247G>A (p.Glu1083Lys)
c.3658G>A (p.Glu1220Lys)
c.*3300G>A (n.*3300G>A)
n.3683G>A
c.151+6899G>A (n.151+6899G>A)
c.803G>A (n.803G>A)
c.1114G>A (p.Glu372Lys)
c.3580G>A (p.Glu1194Lys)
c.656-631G>A (n.656-631G>A)
c.3511G>A (p.Glu1171Lys)
c.3574G>A (p.Glu1192Lys)
c.3562G>A (p.Glu1188Lys)
2g.144389514C>ACA429441056ZEB2c.*3431G>T (n.*3431G>T)
c.2805G>T (p.Ser935=)
c.3582G>T (p.Ser1194=)
c.3470G>T (p.Arg1157Leu)
n.3551G>T
c.3246G>T (p.Ser1082=)
c.3657G>T (p.Ser1219=)
c.*3299G>T (n.*3299G>T)
n.3682G>T
c.151+6898G>T (n.151+6898G>T)
c.802G>T (n.802G>T)
c.1113G>T (p.Ser371=)
c.3579G>T (p.Ser1193=)
c.656-632G>T (n.656-632G>T)
c.3510G>T (p.Ser1170=)
c.3573G>T (p.Ser1191=)
c.3561G>T (p.Ser1187=)
2g.144389514C=CA1294881229ZEB2c.*3431G= (n.*3431G=)
c.2805G= (p.Ser935=)
c.3582G= (p.Ser1194=)
c.3470G= (p.Arg1157=)
n.3551G=
c.3246G= (p.Ser1082=)
c.3657G= (p.Ser1219=)
c.*3299G= (n.*3299G=)
n.3682G=
c.151+6898G= (n.151+6898G=)
c.802G= (n.802G=)
c.1113G= (p.Ser371=)
c.3579G= (p.Ser1193=)
c.656-632G= (n.656-632G=)
c.3510G= (p.Ser1170=)
c.3573G= (p.Ser1191=)
c.3561G= (p.Ser1187=)

Number of alleles fetched