Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.150393426T>ACA361739298TCOF1c.3541T>A (p.Ser1181Thr)
c.3658T>A (p.Ser1220Thr)
c.3313T>A (p.Ser1105Thr)
c.3057T>A
c.3424T>A (p.Ser1142Thr)
c.3655T>A (p.Ser1219Thr)
c.3544T>A (p.Ser1182Thr)
c.3427T>A (p.Ser1143Thr)
n.3705T>A
c.343-3317T>A (n.343-3317T>A)
c.3769T>A (p.Ser1257Thr)
c.3766T>A (p.Ser1256Thr)
c.3538T>A (p.Ser1180Thr)
c.3589T>A (p.Ser1197Thr)
n.3773T>A
n.3662T>A
c.3652T>A (p.Ser1218Thr)
c.3478T>A (p.Ser1160Thr)
c.3364T>A (p.Ser1122Thr)
n.3775T>A
n.3664T>A
5g.150393426T>CCA3511572TCOF1c.3541T>C (p.Ser1181Pro)
c.3658T>C (p.Ser1220Pro)
c.3313T>C (p.Ser1105Pro)
c.3057T>C
c.3424T>C (p.Ser1142Pro)
c.3655T>C (p.Ser1219Pro)
c.3544T>C (p.Ser1182Pro)
c.3427T>C (p.Ser1143Pro)
n.3705T>C
c.343-3317T>C (n.343-3317T>C)
c.3769T>C (p.Ser1257Pro)
c.3766T>C (p.Ser1256Pro)
c.3538T>C (p.Ser1180Pro)
c.3589T>C (p.Ser1197Pro)
n.3773T>C
n.3662T>C
c.3652T>C (p.Ser1218Pro)
c.3478T>C (p.Ser1160Pro)
c.3364T>C (p.Ser1122Pro)
n.3775T>C
n.3664T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393426T>GCA361739309TCOF1c.3541T>G (p.Ser1181Ala)
c.3658T>G (p.Ser1220Ala)
c.3313T>G (p.Ser1105Ala)
c.3057T>G
c.3424T>G (p.Ser1142Ala)
c.3655T>G (p.Ser1219Ala)
c.3544T>G (p.Ser1182Ala)
c.3427T>G (p.Ser1143Ala)
n.3705T>G
c.343-3317T>G (n.343-3317T>G)
c.3769T>G (p.Ser1257Ala)
c.3766T>G (p.Ser1256Ala)
c.3538T>G (p.Ser1180Ala)
c.3589T>G (p.Ser1197Ala)
n.3773T>G
n.3662T>G
c.3652T>G (p.Ser1218Ala)
c.3478T>G (p.Ser1160Ala)
c.3364T>G (p.Ser1122Ala)
n.3775T>G
n.3664T>G
5g.150393426T=CA1590925989TCOF1c.3541T= (p.Ser1181=)
c.3658T= (p.Ser1220=)
c.3313T= (p.Ser1105=)
c.3057T=
c.3424T= (p.Ser1142=)
c.3655T= (p.Ser1219=)
c.3544T= (p.Ser1182=)
c.3427T= (p.Ser1143=)
n.3705T=
c.343-3317T= (n.343-3317T=)
c.3769T= (p.Ser1257=)
c.3766T= (p.Ser1256=)
c.3538T= (p.Ser1180=)
c.3589T= (p.Ser1197=)
n.3773T=
n.3662T=
c.3652T= (p.Ser1218=)
c.3478T= (p.Ser1160=)
c.3364T= (p.Ser1122=)
n.3775T=
n.3664T=
5g.150393427C>ACA129107209TCOF1c.3542C>A (p.Ser1181Ter)
c.3659C>A (p.Ser1220Ter)
c.3314C>A (p.Ser1105Ter)
c.3058C>A
c.3425C>A (p.Ser1142Ter)
c.3656C>A (p.Ser1219Ter)
c.3545C>A (p.Ser1182Ter)
c.3428C>A (p.Ser1143Ter)
n.3706C>A
c.343-3316C>A (n.343-3316C>A)
c.3770C>A (p.Ser1257Ter)
c.3767C>A (p.Ser1256Ter)
c.3539C>A (p.Ser1180Ter)
c.3590C>A (p.Ser1197Ter)
n.3774C>A
n.3663C>A
c.3653C>A (p.Ser1218Ter)
c.3479C>A (p.Ser1160Ter)
c.3365C>A (p.Ser1122Ter)
n.3776C>A
n.3665C>A
 dbSNP
5g.150393427C=CA1590925990TCOF1c.3542C= (p.Ser1181=)
c.3659C= (p.Ser1220=)
c.3314C= (p.Ser1105=)
c.3058C=
c.3425C= (p.Ser1142=)
c.3656C= (p.Ser1219=)
c.3545C= (p.Ser1182=)
c.3428C= (p.Ser1143=)
n.3706C=
c.343-3316C= (n.343-3316C=)
c.3770C= (p.Ser1257=)
c.3767C= (p.Ser1256=)
c.3539C= (p.Ser1180=)
c.3590C= (p.Ser1197=)
n.3774C=
n.3663C=
c.3653C= (p.Ser1218=)
c.3479C= (p.Ser1160=)
c.3365C= (p.Ser1122=)
n.3776C=
n.3665C=
5g.150393427C>GCA361739328TCOF1c.3542C>G (p.Ser1181Ter)
c.3659C>G (p.Ser1220Ter)
c.3314C>G (p.Ser1105Ter)
c.3058C>G
c.3425C>G (p.Ser1142Ter)
c.3656C>G (p.Ser1219Ter)
c.3545C>G (p.Ser1182Ter)
c.3428C>G (p.Ser1143Ter)
n.3706C>G
c.343-3316C>G (n.343-3316C>G)
c.3770C>G (p.Ser1257Ter)
c.3767C>G (p.Ser1256Ter)
c.3539C>G (p.Ser1180Ter)
c.3590C>G (p.Ser1197Ter)
n.3774C>G
n.3663C>G
c.3653C>G (p.Ser1218Ter)
c.3479C>G (p.Ser1160Ter)
c.3365C>G (p.Ser1122Ter)
n.3776C>G
n.3665C>G
5g.150393427C>TCA361739326TCOF1c.3542C>T (p.Ser1181Leu)
c.3659C>T (p.Ser1220Leu)
c.3314C>T (p.Ser1105Leu)
c.3058C>T
c.3425C>T (p.Ser1142Leu)
c.3656C>T (p.Ser1219Leu)
c.3545C>T (p.Ser1182Leu)
c.3428C>T (p.Ser1143Leu)
n.3706C>T
c.343-3316C>T (n.343-3316C>T)
c.3770C>T (p.Ser1257Leu)
c.3767C>T (p.Ser1256Leu)
c.3539C>T (p.Ser1180Leu)
c.3590C>T (p.Ser1197Leu)
n.3774C>T
n.3663C>T
c.3653C>T (p.Ser1218Leu)
c.3479C>T (p.Ser1160Leu)
c.3365C>T (p.Ser1122Leu)
n.3776C>T
n.3665C>T
5g.150393428A>CCA447157925TCOF1c.3543A>C (p.Ser1181=)
c.3660A>C (p.Ser1220=)
c.3315A>C (p.Ser1105=)
c.3059A>C
c.3426A>C (p.Ser1142=)
c.3657A>C (p.Ser1219=)
c.3546A>C (p.Ser1182=)
c.3429A>C (p.Ser1143=)
n.3707A>C
c.343-3315A>C (n.343-3315A>C)
c.3771A>C (p.Ser1257=)
c.3768A>C (p.Ser1256=)
c.3540A>C (p.Ser1180=)
c.3591A>C (p.Ser1197=)
n.3775A>C
n.3664A>C
c.3654A>C (p.Ser1218=)
c.3480A>C (p.Ser1160=)
c.3366A>C (p.Ser1122=)
n.3777A>C
n.3666A>C
5g.150393428A>GCA447157926TCOF1c.3543A>G (p.Ser1181=)
c.3660A>G (p.Ser1220=)
c.3315A>G (p.Ser1105=)
c.3059A>G
c.3426A>G (p.Ser1142=)
c.3657A>G (p.Ser1219=)
c.3546A>G (p.Ser1182=)
c.3429A>G (p.Ser1143=)
n.3707A>G
c.343-3315A>G (n.343-3315A>G)
c.3771A>G (p.Ser1257=)
c.3768A>G (p.Ser1256=)
c.3540A>G (p.Ser1180=)
c.3591A>G (p.Ser1197=)
n.3775A>G
n.3664A>G
c.3654A>G (p.Ser1218=)
c.3480A>G (p.Ser1160=)
c.3366A>G (p.Ser1122=)
n.3777A>G
n.3666A>G
5g.150393428A>TCA447157928TCOF1c.3543A>T (p.Ser1181=)
c.3660A>T (p.Ser1220=)
c.3315A>T (p.Ser1105=)
c.3059A>T
c.3426A>T (p.Ser1142=)
c.3657A>T (p.Ser1219=)
c.3546A>T (p.Ser1182=)
c.3429A>T (p.Ser1143=)
n.3707A>T
c.343-3315A>T (n.343-3315A>T)
c.3771A>T (p.Ser1257=)
c.3768A>T (p.Ser1256=)
c.3540A>T (p.Ser1180=)
c.3591A>T (p.Ser1197=)
n.3775A>T
n.3664A>T
c.3654A>T (p.Ser1218=)
c.3480A>T (p.Ser1160=)
c.3366A>T (p.Ser1122=)
n.3777A>T
n.3666A>T
5g.150393429A>CCA361739331TCOF1c.3544A>C (p.Lys1182Gln)
c.3661A>C (p.Lys1221Gln)
c.3316A>C (p.Lys1106Gln)
c.3060A>C
c.3427A>C (p.Lys1143Gln)
c.3658A>C (p.Lys1220Gln)
c.3547A>C (p.Lys1183Gln)
c.3430A>C (p.Lys1144Gln)
n.3708A>C
c.343-3314A>C (n.343-3314A>C)
c.3772A>C (p.Lys1258Gln)
c.3769A>C (p.Lys1257Gln)
c.3541A>C (p.Lys1181Gln)
c.3592A>C (p.Lys1198Gln)
n.3776A>C
n.3665A>C
c.3655A>C (p.Lys1219Gln)
c.3481A>C (p.Lys1161Gln)
c.3367A>C (p.Lys1123Gln)
n.3778A>C
n.3667A>C
5g.150393429A>GCA361739333TCOF1c.3544A>G (p.Lys1182Glu)
c.3661A>G (p.Lys1221Glu)
c.3316A>G (p.Lys1106Glu)
c.3060A>G
c.3427A>G (p.Lys1143Glu)
c.3658A>G (p.Lys1220Glu)
c.3547A>G (p.Lys1183Glu)
c.3430A>G (p.Lys1144Glu)
n.3708A>G
c.343-3314A>G (n.343-3314A>G)
c.3772A>G (p.Lys1258Glu)
c.3769A>G (p.Lys1257Glu)
c.3541A>G (p.Lys1181Glu)
c.3592A>G (p.Lys1198Glu)
n.3776A>G
n.3665A>G
c.3655A>G (p.Lys1219Glu)
c.3481A>G (p.Lys1161Glu)
c.3367A>G (p.Lys1123Glu)
n.3778A>G
n.3667A>G
5g.150393429A>TCA361739334TCOF1c.3544A>T (p.Lys1182Ter)
c.3661A>T (p.Lys1221Ter)
c.3316A>T (p.Lys1106Ter)
c.3060A>T
c.3427A>T (p.Lys1143Ter)
c.3658A>T (p.Lys1220Ter)
c.3547A>T (p.Lys1183Ter)
c.3430A>T (p.Lys1144Ter)
n.3708A>T
c.343-3314A>T (n.343-3314A>T)
c.3772A>T (p.Lys1258Ter)
c.3769A>T (p.Lys1257Ter)
c.3541A>T (p.Lys1181Ter)
c.3592A>T (p.Lys1198Ter)
n.3776A>T
n.3665A>T
c.3655A>T (p.Lys1219Ter)
c.3481A>T (p.Lys1161Ter)
c.3367A>T (p.Lys1123Ter)
n.3778A>T
n.3667A>T
5g.150393430A>CCA361739337TCOF1c.3545A>C (p.Lys1182Thr)
c.3662A>C (p.Lys1221Thr)
c.3317A>C (p.Lys1106Thr)
c.3061A>C
c.3428A>C (p.Lys1143Thr)
c.3659A>C (p.Lys1220Thr)
c.3548A>C (p.Lys1183Thr)
c.3431A>C (p.Lys1144Thr)
n.3709A>C
c.343-3313A>C (n.343-3313A>C)
c.3773A>C (p.Lys1258Thr)
c.3770A>C (p.Lys1257Thr)
c.3542A>C (p.Lys1181Thr)
c.3593A>C (p.Lys1198Thr)
n.3777A>C
n.3666A>C
c.3656A>C (p.Lys1219Thr)
c.3482A>C (p.Lys1161Thr)
c.3368A>C (p.Lys1123Thr)
n.3779A>C
n.3668A>C
5g.150393430A>GCA361739340TCOF1c.3545A>G (p.Lys1182Arg)
c.3662A>G (p.Lys1221Arg)
c.3317A>G (p.Lys1106Arg)
c.3061A>G
c.3428A>G (p.Lys1143Arg)
c.3659A>G (p.Lys1220Arg)
c.3548A>G (p.Lys1183Arg)
c.3431A>G (p.Lys1144Arg)
n.3709A>G
c.343-3313A>G (n.343-3313A>G)
c.3773A>G (p.Lys1258Arg)
c.3770A>G (p.Lys1257Arg)
c.3542A>G (p.Lys1181Arg)
c.3593A>G (p.Lys1198Arg)
n.3777A>G
n.3666A>G
c.3656A>G (p.Lys1219Arg)
c.3482A>G (p.Lys1161Arg)
c.3368A>G (p.Lys1123Arg)
n.3779A>G
n.3668A>G
5g.150393430A>TCA361739344TCOF1c.3545A>T (p.Lys1182Ile)
c.3662A>T (p.Lys1221Ile)
c.3317A>T (p.Lys1106Ile)
c.3061A>T
c.3428A>T (p.Lys1143Ile)
c.3659A>T (p.Lys1220Ile)
c.3548A>T (p.Lys1183Ile)
c.3431A>T (p.Lys1144Ile)
n.3709A>T
c.343-3313A>T (n.343-3313A>T)
c.3773A>T (p.Lys1258Ile)
c.3770A>T (p.Lys1257Ile)
c.3542A>T (p.Lys1181Ile)
c.3593A>T (p.Lys1198Ile)
n.3777A>T
n.3666A>T
c.3656A>T (p.Lys1219Ile)
c.3482A>T (p.Lys1161Ile)
c.3368A>T (p.Lys1123Ile)
n.3779A>T
n.3668A>T
5g.150393431A=CA1590925991TCOF1c.3546A= (p.Lys1182=)
c.3663A= (p.Lys1221=)
c.3318A= (p.Lys1106=)
c.3062A=
c.3429A= (p.Lys1143=)
c.3660A= (p.Lys1220=)
c.3549A= (p.Lys1183=)
c.3432A= (p.Lys1144=)
n.3710A=
c.343-3312A= (n.343-3312A=)
c.3774A= (p.Lys1258=)
c.3771A= (p.Lys1257=)
c.3543A= (p.Lys1181=)
c.3594A= (p.Lys1198=)
n.3778A=
n.3667A=
c.3657A= (p.Lys1219=)
c.3483A= (p.Lys1161=)
c.3369A= (p.Lys1123=)
n.3780A=
n.3669A=
5g.150393431A>CCA129107236TCOF1c.3546A>C (p.Lys1182Asn)
c.3663A>C (p.Lys1221Asn)
c.3318A>C (p.Lys1106Asn)
c.3062A>C
c.3429A>C (p.Lys1143Asn)
c.3660A>C (p.Lys1220Asn)
c.3549A>C (p.Lys1183Asn)
c.3432A>C (p.Lys1144Asn)
n.3710A>C
c.343-3312A>C (n.343-3312A>C)
c.3774A>C (p.Lys1258Asn)
c.3771A>C (p.Lys1257Asn)
c.3543A>C (p.Lys1181Asn)
c.3594A>C (p.Lys1198Asn)
n.3778A>C
n.3667A>C
c.3657A>C (p.Lys1219Asn)
c.3483A>C (p.Lys1161Asn)
c.3369A>C (p.Lys1123Asn)
n.3780A>C
n.3669A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.150393431A>GCA3511573TCOF1c.3546A>G (p.Lys1182=)
c.3663A>G (p.Lys1221=)
c.3318A>G (p.Lys1106=)
c.3062A>G
c.3429A>G (p.Lys1143=)
c.3660A>G (p.Lys1220=)
c.3549A>G (p.Lys1183=)
c.3432A>G (p.Lys1144=)
n.3710A>G
c.343-3312A>G (n.343-3312A>G)
c.3774A>G (p.Lys1258=)
c.3771A>G (p.Lys1257=)
c.3543A>G (p.Lys1181=)
c.3594A>G (p.Lys1198=)
n.3778A>G
n.3667A>G
c.3657A>G (p.Lys1219=)
c.3483A>G (p.Lys1161=)
c.3369A>G (p.Lys1123=)
n.3780A>G
n.3669A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393431A>TCA361739352TCOF1c.3546A>T (p.Lys1182Asn)
c.3663A>T (p.Lys1221Asn)
c.3318A>T (p.Lys1106Asn)
c.3062A>T
c.3429A>T (p.Lys1143Asn)
c.3660A>T (p.Lys1220Asn)
c.3549A>T (p.Lys1183Asn)
c.3432A>T (p.Lys1144Asn)
n.3710A>T
c.343-3312A>T (n.343-3312A>T)
c.3774A>T (p.Lys1258Asn)
c.3771A>T (p.Lys1257Asn)
c.3543A>T (p.Lys1181Asn)
c.3594A>T (p.Lys1198Asn)
n.3778A>T
n.3667A>T
c.3657A>T (p.Lys1219Asn)
c.3483A>T (p.Lys1161Asn)
c.3369A>T (p.Lys1123Asn)
n.3780A>T
n.3669A>T
5g.150393432G>ACA361739353TCOF1c.3547G>A (p.Ala1183Thr)
c.3664G>A (p.Ala1222Thr)
c.3319G>A (p.Ala1107Thr)
c.3063G>A
c.3430G>A (p.Ala1144Thr)
c.3661G>A (p.Ala1221Thr)
c.3550G>A (p.Ala1184Thr)
c.3433G>A (p.Ala1145Thr)
n.3711G>A
c.343-3311G>A (n.343-3311G>A)
c.3775G>A (p.Ala1259Thr)
c.3772G>A (p.Ala1258Thr)
c.3544G>A (p.Ala1182Thr)
c.3595G>A (p.Ala1199Thr)
n.3779G>A
n.3668G>A
c.3658G>A (p.Ala1220Thr)
c.3484G>A (p.Ala1162Thr)
c.3370G>A (p.Ala1124Thr)
n.3781G>A
n.3670G>A
 ClinVar dbSNP gnomAD v4
5g.150393432G>CCA361739354TCOF1c.3547G>C (p.Ala1183Pro)
c.3664G>C (p.Ala1222Pro)
c.3319G>C (p.Ala1107Pro)
c.3063G>C
c.3430G>C (p.Ala1144Pro)
c.3661G>C (p.Ala1221Pro)
c.3550G>C (p.Ala1184Pro)
c.3433G>C (p.Ala1145Pro)
n.3711G>C
c.343-3311G>C (n.343-3311G>C)
c.3775G>C (p.Ala1259Pro)
c.3772G>C (p.Ala1258Pro)
c.3544G>C (p.Ala1182Pro)
c.3595G>C (p.Ala1199Pro)
n.3779G>C
n.3668G>C
c.3658G>C (p.Ala1220Pro)
c.3484G>C (p.Ala1162Pro)
c.3370G>C (p.Ala1124Pro)
n.3781G>C
n.3670G>C
5g.150393432G=CA1590925992TCOF1c.3547G= (p.Ala1183=)
c.3664G= (p.Ala1222=)
c.3319G= (p.Ala1107=)
c.3063G=
c.3430G= (p.Ala1144=)
c.3661G= (p.Ala1221=)
c.3550G= (p.Ala1184=)
c.3433G= (p.Ala1145=)
n.3711G=
c.343-3311G= (n.343-3311G=)
c.3775G= (p.Ala1259=)
c.3772G= (p.Ala1258=)
c.3544G= (p.Ala1182=)
c.3595G= (p.Ala1199=)
n.3779G=
n.3668G=
c.3658G= (p.Ala1220=)
c.3484G= (p.Ala1162=)
c.3370G= (p.Ala1124=)
n.3781G=
n.3670G=
5g.150393432G>TCA361739356TCOF1c.3547G>T (p.Ala1183Ser)
c.3664G>T (p.Ala1222Ser)
c.3319G>T (p.Ala1107Ser)
c.3063G>T
c.3430G>T (p.Ala1144Ser)
c.3661G>T (p.Ala1221Ser)
c.3550G>T (p.Ala1184Ser)
c.3433G>T (p.Ala1145Ser)
n.3711G>T
c.343-3311G>T (n.343-3311G>T)
c.3775G>T (p.Ala1259Ser)
c.3772G>T (p.Ala1258Ser)
c.3544G>T (p.Ala1182Ser)
c.3595G>T (p.Ala1199Ser)
n.3779G>T
n.3668G>T
c.3658G>T (p.Ala1220Ser)
c.3484G>T (p.Ala1162Ser)
c.3370G>T (p.Ala1124Ser)
n.3781G>T
n.3670G>T
 gnomAD v4
5g.150393433C>ACA361739359TCOF1c.3548C>A (p.Ala1183Asp)
c.3665C>A (p.Ala1222Asp)
c.3320C>A (p.Ala1107Asp)
c.3064C>A
c.3431C>A (p.Ala1144Asp)
c.3662C>A (p.Ala1221Asp)
c.3551C>A (p.Ala1184Asp)
c.3434C>A (p.Ala1145Asp)
n.3712C>A
c.343-3310C>A (n.343-3310C>A)
c.3776C>A (p.Ala1259Asp)
c.3773C>A (p.Ala1258Asp)
c.3545C>A (p.Ala1182Asp)
c.3596C>A (p.Ala1199Asp)
n.3780C>A
n.3669C>A
c.3659C>A (p.Ala1220Asp)
c.3485C>A (p.Ala1162Asp)
c.3371C>A (p.Ala1124Asp)
n.3782C>A
n.3671C>A
5g.150393433C=CA1590925993TCOF1c.3548C= (p.Ala1183=)
c.3665C= (p.Ala1222=)
c.3320C= (p.Ala1107=)
c.3064C=
c.3431C= (p.Ala1144=)
c.3662C= (p.Ala1221=)
c.3551C= (p.Ala1184=)
c.3434C= (p.Ala1145=)
n.3712C=
c.343-3310C= (n.343-3310C=)
c.3776C= (p.Ala1259=)
c.3773C= (p.Ala1258=)
c.3545C= (p.Ala1182=)
c.3596C= (p.Ala1199=)
n.3780C=
n.3669C=
c.3659C= (p.Ala1220=)
c.3485C= (p.Ala1162=)
c.3371C= (p.Ala1124=)
n.3782C=
n.3671C=
5g.150393433C>GCA361739360TCOF1c.3548C>G (p.Ala1183Gly)
c.3665C>G (p.Ala1222Gly)
c.3320C>G (p.Ala1107Gly)
c.3064C>G
c.3431C>G (p.Ala1144Gly)
c.3662C>G (p.Ala1221Gly)
c.3551C>G (p.Ala1184Gly)
c.3434C>G (p.Ala1145Gly)
n.3712C>G
c.343-3310C>G (n.343-3310C>G)
c.3776C>G (p.Ala1259Gly)
c.3773C>G (p.Ala1258Gly)
c.3545C>G (p.Ala1182Gly)
c.3596C>G (p.Ala1199Gly)
n.3780C>G
n.3669C>G
c.3659C>G (p.Ala1220Gly)
c.3485C>G (p.Ala1162Gly)
c.3371C>G (p.Ala1124Gly)
n.3782C>G
n.3671C>G
5g.150393433C>TCA361739358TCOF1c.3548C>T (p.Ala1183Val)
c.3665C>T (p.Ala1222Val)
c.3320C>T (p.Ala1107Val)
c.3064C>T
c.3431C>T (p.Ala1144Val)
c.3662C>T (p.Ala1221Val)
c.3551C>T (p.Ala1184Val)
c.3434C>T (p.Ala1145Val)
n.3712C>T
c.343-3310C>T (n.343-3310C>T)
c.3776C>T (p.Ala1259Val)
c.3773C>T (p.Ala1258Val)
c.3545C>T (p.Ala1182Val)
c.3596C>T (p.Ala1199Val)
n.3780C>T
n.3669C>T
c.3659C>T (p.Ala1220Val)
c.3485C>T (p.Ala1162Val)
c.3371C>T (p.Ala1124Val)
n.3782C>T
n.3671C>T
 dbSNP gnomAD v3 gnomAD v4
5g.150393434C>ACA447157949TCOF1c.3549C>A (p.Ala1183=)
c.3666C>A (p.Ala1222=)
c.3321C>A (p.Ala1107=)
c.3065C>A
c.3432C>A (p.Ala1144=)
c.3663C>A (p.Ala1221=)
c.3552C>A (p.Ala1184=)
c.3435C>A (p.Ala1145=)
n.3713C>A
c.343-3309C>A (n.343-3309C>A)
c.3777C>A (p.Ala1259=)
c.3774C>A (p.Ala1258=)
c.3546C>A (p.Ala1182=)
c.3597C>A (p.Ala1199=)
n.3781C>A
n.3670C>A
c.3660C>A (p.Ala1220=)
c.3486C>A (p.Ala1162=)
c.3372C>A (p.Ala1124=)
n.3783C>A
n.3672C>A
5g.150393434C>GCA447157947TCOF1c.3549C>G (p.Ala1183=)
c.3666C>G (p.Ala1222=)
c.3321C>G (p.Ala1107=)
c.3065C>G
c.3432C>G (p.Ala1144=)
c.3663C>G (p.Ala1221=)
c.3552C>G (p.Ala1184=)
c.3435C>G (p.Ala1145=)
n.3713C>G
c.343-3309C>G (n.343-3309C>G)
c.3777C>G (p.Ala1259=)
c.3774C>G (p.Ala1258=)
c.3546C>G (p.Ala1182=)
c.3597C>G (p.Ala1199=)
n.3781C>G
n.3670C>G
c.3660C>G (p.Ala1220=)
c.3486C>G (p.Ala1162=)
c.3372C>G (p.Ala1124=)
n.3783C>G
n.3672C>G
5g.150393434C>TCA447157945TCOF1c.3549C>T (p.Ala1183=)
c.3666C>T (p.Ala1222=)
c.3321C>T (p.Ala1107=)
c.3065C>T
c.3432C>T (p.Ala1144=)
c.3663C>T (p.Ala1221=)
c.3552C>T (p.Ala1184=)
c.3435C>T (p.Ala1145=)
n.3713C>T
c.343-3309C>T (n.343-3309C>T)
c.3777C>T (p.Ala1259=)
c.3774C>T (p.Ala1258=)
c.3546C>T (p.Ala1182=)
c.3597C>T (p.Ala1199=)
n.3781C>T
n.3670C>T
c.3660C>T (p.Ala1220=)
c.3486C>T (p.Ala1162=)
c.3372C>T (p.Ala1124=)
n.3783C>T
n.3672C>T
5g.150393435A=CA1590925994TCOF1c.3550A= (p.Thr1184=)
c.3667A= (p.Thr1223=)
c.3322A= (p.Thr1108=)
c.3066A=
c.3433A= (p.Thr1145=)
c.3664A= (p.Thr1222=)
c.3553A= (p.Thr1185=)
c.3436A= (p.Thr1146=)
n.3714A=
c.343-3308A= (n.343-3308A=)
c.3778A= (p.Thr1260=)
c.3775A= (p.Thr1259=)
c.3547A= (p.Thr1183=)
c.3598A= (p.Thr1200=)
n.3782A=
n.3671A=
c.3661A= (p.Thr1221=)
c.3487A= (p.Thr1163=)
c.3373A= (p.Thr1125=)
n.3784A=
n.3673A=
5g.150393435A>CCA361739361TCOF1c.3550A>C (p.Thr1184Pro)
c.3667A>C (p.Thr1223Pro)
c.3322A>C (p.Thr1108Pro)
c.3066A>C
c.3433A>C (p.Thr1145Pro)
c.3664A>C (p.Thr1222Pro)
c.3553A>C (p.Thr1185Pro)
c.3436A>C (p.Thr1146Pro)
n.3714A>C
c.343-3308A>C (n.343-3308A>C)
c.3778A>C (p.Thr1260Pro)
c.3775A>C (p.Thr1259Pro)
c.3547A>C (p.Thr1183Pro)
c.3598A>C (p.Thr1200Pro)
n.3782A>C
n.3671A>C
c.3661A>C (p.Thr1221Pro)
c.3487A>C (p.Thr1163Pro)
c.3373A>C (p.Thr1125Pro)
n.3784A>C
n.3673A>C
5g.150393435A>GCA361739365TCOF1c.3550A>G (p.Thr1184Ala)
c.3667A>G (p.Thr1223Ala)
c.3322A>G (p.Thr1108Ala)
c.3066A>G
c.3433A>G (p.Thr1145Ala)
c.3664A>G (p.Thr1222Ala)
c.3553A>G (p.Thr1185Ala)
c.3436A>G (p.Thr1146Ala)
n.3714A>G
c.343-3308A>G (n.343-3308A>G)
c.3778A>G (p.Thr1260Ala)
c.3775A>G (p.Thr1259Ala)
c.3547A>G (p.Thr1183Ala)
c.3598A>G (p.Thr1200Ala)
n.3782A>G
n.3671A>G
c.3661A>G (p.Thr1221Ala)
c.3487A>G (p.Thr1163Ala)
c.3373A>G (p.Thr1125Ala)
n.3784A>G
n.3673A>G
 dbSNP
5g.150393435A>TCA361739363TCOF1c.3550A>T (p.Thr1184Ser)
c.3667A>T (p.Thr1223Ser)
c.3322A>T (p.Thr1108Ser)
c.3066A>T
c.3433A>T (p.Thr1145Ser)
c.3664A>T (p.Thr1222Ser)
c.3553A>T (p.Thr1185Ser)
c.3436A>T (p.Thr1146Ser)
n.3714A>T
c.343-3308A>T (n.343-3308A>T)
c.3778A>T (p.Thr1260Ser)
c.3775A>T (p.Thr1259Ser)
c.3547A>T (p.Thr1183Ser)
c.3598A>T (p.Thr1200Ser)
n.3782A>T
n.3671A>T
c.3661A>T (p.Thr1221Ser)
c.3487A>T (p.Thr1163Ser)
c.3373A>T (p.Thr1125Ser)
n.3784A>T
n.3673A>T
5g.150393436C>ACA361739368TCOF1c.3551C>A (p.Thr1184Asn)
c.3668C>A (p.Thr1223Asn)
c.3323C>A (p.Thr1108Asn)
c.3067C>A
c.3434C>A (p.Thr1145Asn)
c.3665C>A (p.Thr1222Asn)
c.3554C>A (p.Thr1185Asn)
c.3437C>A (p.Thr1146Asn)
n.3715C>A
c.343-3307C>A (n.343-3307C>A)
c.3779C>A (p.Thr1260Asn)
c.3776C>A (p.Thr1259Asn)
c.3548C>A (p.Thr1183Asn)
c.3599C>A (p.Thr1200Asn)
n.3783C>A
n.3672C>A
c.3662C>A (p.Thr1221Asn)
c.3488C>A (p.Thr1163Asn)
c.3374C>A (p.Thr1125Asn)
n.3785C>A
n.3674C>A
5g.150393436C>GCA361739373TCOF1c.3551C>G (p.Thr1184Ser)
c.3668C>G (p.Thr1223Ser)
c.3323C>G (p.Thr1108Ser)
c.3067C>G
c.3434C>G (p.Thr1145Ser)
c.3665C>G (p.Thr1222Ser)
c.3554C>G (p.Thr1185Ser)
c.3437C>G (p.Thr1146Ser)
n.3715C>G
c.343-3307C>G (n.343-3307C>G)
c.3779C>G (p.Thr1260Ser)
c.3776C>G (p.Thr1259Ser)
c.3548C>G (p.Thr1183Ser)
c.3599C>G (p.Thr1200Ser)
n.3783C>G
n.3672C>G
c.3662C>G (p.Thr1221Ser)
c.3488C>G (p.Thr1163Ser)
c.3374C>G (p.Thr1125Ser)
n.3785C>G
n.3674C>G
5g.150393436C>TCA361739375TCOF1c.3551C>T (p.Thr1184Ile)
c.3668C>T (p.Thr1223Ile)
c.3323C>T (p.Thr1108Ile)
c.3067C>T
c.3434C>T (p.Thr1145Ile)
c.3665C>T (p.Thr1222Ile)
c.3554C>T (p.Thr1185Ile)
c.3437C>T (p.Thr1146Ile)
n.3715C>T
c.343-3307C>T (n.343-3307C>T)
c.3779C>T (p.Thr1260Ile)
c.3776C>T (p.Thr1259Ile)
c.3548C>T (p.Thr1183Ile)
c.3599C>T (p.Thr1200Ile)
n.3783C>T
n.3672C>T
c.3662C>T (p.Thr1221Ile)
c.3488C>T (p.Thr1163Ile)
c.3374C>T (p.Thr1125Ile)
n.3785C>T
n.3674C>T
5g.150393437T>ACA447157958TCOF1c.3552T>A (p.Thr1184=)
c.3669T>A (p.Thr1223=)
c.3324T>A (p.Thr1108=)
c.3068T>A
c.3435T>A (p.Thr1145=)
c.3666T>A (p.Thr1222=)
c.3555T>A (p.Thr1185=)
c.3438T>A (p.Thr1146=)
n.3716T>A
c.343-3306T>A (n.343-3306T>A)
c.3780T>A (p.Thr1260=)
c.3777T>A (p.Thr1259=)
c.3549T>A (p.Thr1183=)
c.3600T>A (p.Thr1200=)
n.3784T>A
n.3673T>A
c.3663T>A (p.Thr1221=)
c.3489T>A (p.Thr1163=)
c.3375T>A (p.Thr1125=)
n.3786T>A
n.3675T>A
5g.150393437T>CCA447157962TCOF1c.3552T>C (p.Thr1184=)
c.3669T>C (p.Thr1223=)
c.3324T>C (p.Thr1108=)
c.3068T>C
c.3435T>C (p.Thr1145=)
c.3666T>C (p.Thr1222=)
c.3555T>C (p.Thr1185=)
c.3438T>C (p.Thr1146=)
n.3716T>C
c.343-3306T>C (n.343-3306T>C)
c.3780T>C (p.Thr1260=)
c.3777T>C (p.Thr1259=)
c.3549T>C (p.Thr1183=)
c.3600T>C (p.Thr1200=)
n.3784T>C
n.3673T>C
c.3663T>C (p.Thr1221=)
c.3489T>C (p.Thr1163=)
c.3375T>C (p.Thr1125=)
n.3786T>C
n.3675T>C
 gnomAD v4
5g.150393437T>GCA447157960TCOF1c.3552T>G (p.Thr1184=)
c.3669T>G (p.Thr1223=)
c.3324T>G (p.Thr1108=)
c.3068T>G
c.3435T>G (p.Thr1145=)
c.3666T>G (p.Thr1222=)
c.3555T>G (p.Thr1185=)
c.3438T>G (p.Thr1146=)
n.3716T>G
c.343-3306T>G (n.343-3306T>G)
c.3780T>G (p.Thr1260=)
c.3777T>G (p.Thr1259=)
c.3549T>G (p.Thr1183=)
c.3600T>G (p.Thr1200=)
n.3784T>G
n.3673T>G
c.3663T>G (p.Thr1221=)
c.3489T>G (p.Thr1163=)
c.3375T>G (p.Thr1125=)
n.3786T>G
n.3675T>G
5g.150393438C>ACA361739379TCOF1c.3553C>A (p.Pro1185Thr)
c.3670C>A (p.Pro1224Thr)
c.3325C>A (p.Pro1109Thr)
c.3069C>A
c.3436C>A (p.Pro1146Thr)
c.3667C>A (p.Pro1223Thr)
c.3556C>A (p.Pro1186Thr)
c.3439C>A (p.Pro1147Thr)
n.3717C>A
c.343-3305C>A (n.343-3305C>A)
c.3781C>A (p.Pro1261Thr)
c.3778C>A (p.Pro1260Thr)
c.3550C>A (p.Pro1184Thr)
c.3601C>A (p.Pro1201Thr)
n.3785C>A
n.3674C>A
c.3664C>A (p.Pro1222Thr)
c.3490C>A (p.Pro1164Thr)
c.3376C>A (p.Pro1126Thr)
n.3787C>A
n.3676C>A
5g.150393438C>GCA361739392TCOF1c.3553C>G (p.Pro1185Ala)
c.3670C>G (p.Pro1224Ala)
c.3325C>G (p.Pro1109Ala)
c.3069C>G
c.3436C>G (p.Pro1146Ala)
c.3667C>G (p.Pro1223Ala)
c.3556C>G (p.Pro1186Ala)
c.3439C>G (p.Pro1147Ala)
n.3717C>G
c.343-3305C>G (n.343-3305C>G)
c.3781C>G (p.Pro1261Ala)
c.3778C>G (p.Pro1260Ala)
c.3550C>G (p.Pro1184Ala)
c.3601C>G (p.Pro1201Ala)
n.3785C>G
n.3674C>G
c.3664C>G (p.Pro1222Ala)
c.3490C>G (p.Pro1164Ala)
c.3376C>G (p.Pro1126Ala)
n.3787C>G
n.3676C>G
5g.150393438C>TCA361739399TCOF1c.3553C>T (p.Pro1185Ser)
c.3670C>T (p.Pro1224Ser)
c.3325C>T (p.Pro1109Ser)
c.3069C>T
c.3436C>T (p.Pro1146Ser)
c.3667C>T (p.Pro1223Ser)
c.3556C>T (p.Pro1186Ser)
c.3439C>T (p.Pro1147Ser)
n.3717C>T
c.343-3305C>T (n.343-3305C>T)
c.3781C>T (p.Pro1261Ser)
c.3778C>T (p.Pro1260Ser)
c.3550C>T (p.Pro1184Ser)
c.3601C>T (p.Pro1201Ser)
n.3785C>T
n.3674C>T
c.3664C>T (p.Pro1222Ser)
c.3490C>T (p.Pro1164Ser)
c.3376C>T (p.Pro1126Ser)
n.3787C>T
n.3676C>T
5g.150393439C>ACA361739406TCOF1c.3554C>A (p.Pro1185His)
c.3671C>A (p.Pro1224His)
c.3326C>A (p.Pro1109His)
c.3070C>A
c.3437C>A (p.Pro1146His)
c.3668C>A (p.Pro1223His)
c.3557C>A (p.Pro1186His)
c.3440C>A (p.Pro1147His)
n.3718C>A
c.343-3304C>A (n.343-3304C>A)
c.3782C>A (p.Pro1261His)
c.3779C>A (p.Pro1260His)
c.3551C>A (p.Pro1184His)
c.3602C>A (p.Pro1201His)
n.3786C>A
n.3675C>A
c.3665C>A (p.Pro1222His)
c.3491C>A (p.Pro1164His)
c.3377C>A (p.Pro1126His)
n.3788C>A
n.3677C>A
5g.150393439C>GCA361739408TCOF1c.3554C>G (p.Pro1185Arg)
c.3671C>G (p.Pro1224Arg)
c.3326C>G (p.Pro1109Arg)
c.3070C>G
c.3437C>G (p.Pro1146Arg)
c.3668C>G (p.Pro1223Arg)
c.3557C>G (p.Pro1186Arg)
c.3440C>G (p.Pro1147Arg)
n.3718C>G
c.343-3304C>G (n.343-3304C>G)
c.3782C>G (p.Pro1261Arg)
c.3779C>G (p.Pro1260Arg)
c.3551C>G (p.Pro1184Arg)
c.3602C>G (p.Pro1201Arg)
n.3786C>G
n.3675C>G
c.3665C>G (p.Pro1222Arg)
c.3491C>G (p.Pro1164Arg)
c.3377C>G (p.Pro1126Arg)
n.3788C>G
n.3677C>G
 gnomAD v4
5g.150393439C>TCA361739410TCOF1c.3554C>T (p.Pro1185Leu)
c.3671C>T (p.Pro1224Leu)
c.3326C>T (p.Pro1109Leu)
c.3070C>T
c.3437C>T (p.Pro1146Leu)
c.3668C>T (p.Pro1223Leu)
c.3557C>T (p.Pro1186Leu)
c.3440C>T (p.Pro1147Leu)
n.3718C>T
c.343-3304C>T (n.343-3304C>T)
c.3782C>T (p.Pro1261Leu)
c.3779C>T (p.Pro1260Leu)
c.3551C>T (p.Pro1184Leu)
c.3602C>T (p.Pro1201Leu)
n.3786C>T
n.3675C>T
c.3665C>T (p.Pro1222Leu)
c.3491C>T (p.Pro1164Leu)
c.3377C>T (p.Pro1126Leu)
n.3788C>T
n.3677C>T
 gnomAD v4
5g.150393440C>ACA447157975TCOF1c.3555C>A (p.Pro1185=)
c.3672C>A (p.Pro1224=)
c.3327C>A (p.Pro1109=)
c.3071C>A
c.3438C>A (p.Pro1146=)
c.3669C>A (p.Pro1223=)
c.3558C>A (p.Pro1186=)
c.3441C>A (p.Pro1147=)
n.3719C>A
c.343-3303C>A (n.343-3303C>A)
c.3783C>A (p.Pro1261=)
c.3780C>A (p.Pro1260=)
c.3552C>A (p.Pro1184=)
c.3603C>A (p.Pro1201=)
n.3787C>A
n.3676C>A
c.3666C>A (p.Pro1222=)
c.3492C>A (p.Pro1164=)
c.3378C>A (p.Pro1126=)
n.3789C>A
n.3678C>A
5g.150393440C>GCA447157976TCOF1c.3555C>G (p.Pro1185=)
c.3672C>G (p.Pro1224=)
c.3327C>G (p.Pro1109=)
c.3071C>G
c.3438C>G (p.Pro1146=)
c.3669C>G (p.Pro1223=)
c.3558C>G (p.Pro1186=)
c.3441C>G (p.Pro1147=)
n.3719C>G
c.343-3303C>G (n.343-3303C>G)
c.3783C>G (p.Pro1261=)
c.3780C>G (p.Pro1260=)
c.3552C>G (p.Pro1184=)
c.3603C>G (p.Pro1201=)
n.3787C>G
n.3676C>G
c.3666C>G (p.Pro1222=)
c.3492C>G (p.Pro1164=)
c.3378C>G (p.Pro1126=)
n.3789C>G
n.3678C>G
5g.150393440C>TCA447157978TCOF1c.3555C>T (p.Pro1185=)
c.3672C>T (p.Pro1224=)
c.3327C>T (p.Pro1109=)
c.3071C>T
c.3438C>T (p.Pro1146=)
c.3669C>T (p.Pro1223=)
c.3558C>T (p.Pro1186=)
c.3441C>T (p.Pro1147=)
n.3719C>T
c.343-3303C>T (n.343-3303C>T)
c.3783C>T (p.Pro1261=)
c.3780C>T (p.Pro1260=)
c.3552C>T (p.Pro1184=)
c.3603C>T (p.Pro1201=)
n.3787C>T
n.3676C>T
c.3666C>T (p.Pro1222=)
c.3492C>T (p.Pro1164=)
c.3378C>T (p.Pro1126=)
n.3789C>T
n.3678C>T
 gnomAD v4
5g.150393441A>CCA361739415TCOF1c.3556A>C (p.Lys1186Gln)
c.3673A>C (p.Lys1225Gln)
c.3328A>C (p.Lys1110Gln)
c.3072A>C
c.3439A>C (p.Lys1147Gln)
c.3670A>C (p.Lys1224Gln)
c.3559A>C (p.Lys1187Gln)
c.3442A>C (p.Lys1148Gln)
n.3720A>C
c.343-3302A>C (n.343-3302A>C)
c.3784A>C (p.Lys1262Gln)
c.3781A>C (p.Lys1261Gln)
c.3553A>C (p.Lys1185Gln)
c.3604A>C (p.Lys1202Gln)
n.3788A>C
n.3677A>C
c.3667A>C (p.Lys1223Gln)
c.3493A>C (p.Lys1165Gln)
c.3379A>C (p.Lys1127Gln)
n.3790A>C
n.3679A>C
5g.150393441A>GCA361739418TCOF1c.3556A>G (p.Lys1186Glu)
c.3673A>G (p.Lys1225Glu)
c.3328A>G (p.Lys1110Glu)
c.3072A>G
c.3439A>G (p.Lys1147Glu)
c.3670A>G (p.Lys1224Glu)
c.3559A>G (p.Lys1187Glu)
c.3442A>G (p.Lys1148Glu)
n.3720A>G
c.343-3302A>G (n.343-3302A>G)
c.3784A>G (p.Lys1262Glu)
c.3781A>G (p.Lys1261Glu)
c.3553A>G (p.Lys1185Glu)
c.3604A>G (p.Lys1202Glu)
n.3788A>G
n.3677A>G
c.3667A>G (p.Lys1223Glu)
c.3493A>G (p.Lys1165Glu)
c.3379A>G (p.Lys1127Glu)
n.3790A>G
n.3679A>G
5g.150393441A>TCA361739421TCOF1c.3556A>T (p.Lys1186Ter)
c.3673A>T (p.Lys1225Ter)
c.3328A>T (p.Lys1110Ter)
c.3072A>T
c.3439A>T (p.Lys1147Ter)
c.3670A>T (p.Lys1224Ter)
c.3559A>T (p.Lys1187Ter)
c.3442A>T (p.Lys1148Ter)
n.3720A>T
c.343-3302A>T (n.343-3302A>T)
c.3784A>T (p.Lys1262Ter)
c.3781A>T (p.Lys1261Ter)
c.3553A>T (p.Lys1185Ter)
c.3604A>T (p.Lys1202Ter)
n.3788A>T
n.3677A>T
c.3667A>T (p.Lys1223Ter)
c.3493A>T (p.Lys1165Ter)
c.3379A>T (p.Lys1127Ter)
n.3790A>T
n.3679A>T
5g.150393442dupCA2697546545TCOF1c.3557dup (p.Leu1187AlafsTer16)
c.3674dup (p.Leu1226AlafsTer16)
c.3329dup (p.Leu1111AlafsTer16)
c.3073dup
c.3440dup (p.Leu1148AlafsTer16)
c.3671dup (p.Leu1225AlafsTer16)
c.3560dup (p.Leu1188AlafsTer16)
c.3443dup (p.Leu1149AlafsTer16)
n.3721dup
c.343-3301dup (n.343-3301dup)
c.3785dup (p.Leu1263AlafsTer16)
c.3782dup (p.Leu1262AlafsTer16)
c.3554dup (p.Leu1186AlafsTer16)
c.3605dup (p.Leu1203AlafsTer16)
n.3789dup
n.3678dup
c.3668dup (p.Leu1224AlafsTer16)
c.3494dup (p.Leu1166AlafsTer16)
c.3380dup (p.Leu1128AlafsTer16)
n.3791dup
n.3680dup
 ClinVar
5g.150393442A>CCA361739439TCOF1c.3557A>C (p.Lys1186Thr)
c.3674A>C (p.Lys1225Thr)
c.3329A>C (p.Lys1110Thr)
c.3073A>C
c.3440A>C (p.Lys1147Thr)
c.3671A>C (p.Lys1224Thr)
c.3560A>C (p.Lys1187Thr)
c.3443A>C (p.Lys1148Thr)
n.3721A>C
c.343-3301A>C (n.343-3301A>C)
c.3785A>C (p.Lys1262Thr)
c.3782A>C (p.Lys1261Thr)
c.3554A>C (p.Lys1185Thr)
c.3605A>C (p.Lys1202Thr)
n.3789A>C
n.3678A>C
c.3668A>C (p.Lys1223Thr)
c.3494A>C (p.Lys1165Thr)
c.3380A>C (p.Lys1127Thr)
n.3791A>C
n.3680A>C
5g.150393442A>GCA361739425TCOF1c.3557A>G (p.Lys1186Arg)
c.3674A>G (p.Lys1225Arg)
c.3329A>G (p.Lys1110Arg)
c.3073A>G
c.3440A>G (p.Lys1147Arg)
c.3671A>G (p.Lys1224Arg)
c.3560A>G (p.Lys1187Arg)
c.3443A>G (p.Lys1148Arg)
n.3721A>G
c.343-3301A>G (n.343-3301A>G)
c.3785A>G (p.Lys1262Arg)
c.3782A>G (p.Lys1261Arg)
c.3554A>G (p.Lys1185Arg)
c.3605A>G (p.Lys1202Arg)
n.3789A>G
n.3678A>G
c.3668A>G (p.Lys1223Arg)
c.3494A>G (p.Lys1165Arg)
c.3380A>G (p.Lys1127Arg)
n.3791A>G
n.3680A>G
5g.150393442A>TCA361739434TCOF1c.3557A>T (p.Lys1186Met)
c.3674A>T (p.Lys1225Met)
c.3329A>T (p.Lys1110Met)
c.3073A>T
c.3440A>T (p.Lys1147Met)
c.3671A>T (p.Lys1224Met)
c.3560A>T (p.Lys1187Met)
c.3443A>T (p.Lys1148Met)
n.3721A>T
c.343-3301A>T (n.343-3301A>T)
c.3785A>T (p.Lys1262Met)
c.3782A>T (p.Lys1261Met)
c.3554A>T (p.Lys1185Met)
c.3605A>T (p.Lys1202Met)
n.3789A>T
n.3678A>T
c.3668A>T (p.Lys1223Met)
c.3494A>T (p.Lys1165Met)
c.3380A>T (p.Lys1127Met)
n.3791A>T
n.3680A>T
5g.150393443G>ACA447157985TCOF1c.3558G>A (p.Lys1186=)
c.3675G>A (p.Lys1225=)
c.3330G>A (p.Lys1110=)
c.3074G>A
c.3441G>A (p.Lys1147=)
c.3672G>A (p.Lys1224=)
c.3561G>A (p.Lys1187=)
c.3444G>A (p.Lys1148=)
n.3722G>A
c.343-3300G>A (n.343-3300G>A)
c.3786G>A (p.Lys1262=)
c.3783G>A (p.Lys1261=)
c.3555G>A (p.Lys1185=)
c.3606G>A (p.Lys1202=)
n.3790G>A
n.3679G>A
c.3669G>A (p.Lys1223=)
c.3495G>A (p.Lys1165=)
c.3381G>A (p.Lys1127=)
n.3792G>A
n.3681G>A
5g.150393443G>CCA361739441TCOF1c.3558G>C (p.Lys1186Asn)
c.3675G>C (p.Lys1225Asn)
c.3330G>C (p.Lys1110Asn)
c.3074G>C
c.3441G>C (p.Lys1147Asn)
c.3672G>C (p.Lys1224Asn)
c.3561G>C (p.Lys1187Asn)
c.3444G>C (p.Lys1148Asn)
n.3722G>C
c.343-3300G>C (n.343-3300G>C)
c.3786G>C (p.Lys1262Asn)
c.3783G>C (p.Lys1261Asn)
c.3555G>C (p.Lys1185Asn)
c.3606G>C (p.Lys1202Asn)
n.3790G>C
n.3679G>C
c.3669G>C (p.Lys1223Asn)
c.3495G>C (p.Lys1165Asn)
c.3381G>C (p.Lys1127Asn)
n.3792G>C
n.3681G>C
5g.150393443G>TCA361739443TCOF1c.3558G>T (p.Lys1186Asn)
c.3675G>T (p.Lys1225Asn)
c.3330G>T (p.Lys1110Asn)
c.3074G>T
c.3441G>T (p.Lys1147Asn)
c.3672G>T (p.Lys1224Asn)
c.3561G>T (p.Lys1187Asn)
c.3444G>T (p.Lys1148Asn)
n.3722G>T
c.343-3300G>T (n.343-3300G>T)
c.3786G>T (p.Lys1262Asn)
c.3783G>T (p.Lys1261Asn)
c.3555G>T (p.Lys1185Asn)
c.3606G>T (p.Lys1202Asn)
n.3790G>T
n.3679G>T
c.3669G>T (p.Lys1223Asn)
c.3495G>T (p.Lys1165Asn)
c.3381G>T (p.Lys1127Asn)
n.3792G>T
n.3681G>T
5g.150393444C>ACA361739445TCOF1c.3559C>A (p.Leu1187Ile)
c.3676C>A (p.Leu1226Ile)
c.3331C>A (p.Leu1111Ile)
c.3075C>A
c.3442C>A (p.Leu1148Ile)
c.3673C>A (p.Leu1225Ile)
c.3562C>A (p.Leu1188Ile)
c.3445C>A (p.Leu1149Ile)
n.3723C>A
c.343-3299C>A (n.343-3299C>A)
c.3787C>A (p.Leu1263Ile)
c.3784C>A (p.Leu1262Ile)
c.3556C>A (p.Leu1186Ile)
c.3607C>A (p.Leu1203Ile)
n.3791C>A
n.3680C>A
c.3670C>A (p.Leu1224Ile)
c.3496C>A (p.Leu1166Ile)
c.3382C>A (p.Leu1128Ile)
n.3793C>A
n.3682C>A
 gnomAD v4
5g.150393444C>GCA361739447TCOF1c.3559C>G (p.Leu1187Val)
c.3676C>G (p.Leu1226Val)
c.3331C>G (p.Leu1111Val)
c.3075C>G
c.3442C>G (p.Leu1148Val)
c.3673C>G (p.Leu1225Val)
c.3562C>G (p.Leu1188Val)
c.3445C>G (p.Leu1149Val)
n.3723C>G
c.343-3299C>G (n.343-3299C>G)
c.3787C>G (p.Leu1263Val)
c.3784C>G (p.Leu1262Val)
c.3556C>G (p.Leu1186Val)
c.3607C>G (p.Leu1203Val)
n.3791C>G
n.3680C>G
c.3670C>G (p.Leu1224Val)
c.3496C>G (p.Leu1166Val)
c.3382C>G (p.Leu1128Val)
n.3793C>G
n.3682C>G
5g.150393444C>TCA447157990TCOF1c.3559C>T (p.Leu1187=)
c.3676C>T (p.Leu1226=)
c.3331C>T (p.Leu1111=)
c.3075C>T
c.3442C>T (p.Leu1148=)
c.3673C>T (p.Leu1225=)
c.3562C>T (p.Leu1188=)
c.3445C>T (p.Leu1149=)
n.3723C>T
c.343-3299C>T (n.343-3299C>T)
c.3787C>T (p.Leu1263=)
c.3784C>T (p.Leu1262=)
c.3556C>T (p.Leu1186=)
c.3607C>T (p.Leu1203=)
n.3791C>T
n.3680C>T
c.3670C>T (p.Leu1224=)
c.3496C>T (p.Leu1166=)
c.3382C>T (p.Leu1128=)
n.3793C>T
n.3682C>T
5g.150393445T>ACA361739448TCOF1c.3560T>A (p.Leu1187Gln)
c.3677T>A (p.Leu1226Gln)
c.3332T>A (p.Leu1111Gln)
c.3076T>A
c.3443T>A (p.Leu1148Gln)
c.3674T>A (p.Leu1225Gln)
c.3563T>A (p.Leu1188Gln)
c.3446T>A (p.Leu1149Gln)
n.3724T>A
c.343-3298T>A (n.343-3298T>A)
c.3788T>A (p.Leu1263Gln)
c.3785T>A (p.Leu1262Gln)
c.3557T>A (p.Leu1186Gln)
c.3608T>A (p.Leu1203Gln)
n.3792T>A
n.3681T>A
c.3671T>A (p.Leu1224Gln)
c.3497T>A (p.Leu1166Gln)
c.3383T>A (p.Leu1128Gln)
n.3794T>A
n.3683T>A
5g.150393445T>CCA361739449TCOF1c.3560T>C (p.Leu1187Pro)
c.3677T>C (p.Leu1226Pro)
c.3332T>C (p.Leu1111Pro)
c.3076T>C
c.3443T>C (p.Leu1148Pro)
c.3674T>C (p.Leu1225Pro)
c.3563T>C (p.Leu1188Pro)
c.3446T>C (p.Leu1149Pro)
n.3724T>C
c.343-3298T>C (n.343-3298T>C)
c.3788T>C (p.Leu1263Pro)
c.3785T>C (p.Leu1262Pro)
c.3557T>C (p.Leu1186Pro)
c.3608T>C (p.Leu1203Pro)
n.3792T>C
n.3681T>C
c.3671T>C (p.Leu1224Pro)
c.3497T>C (p.Leu1166Pro)
c.3383T>C (p.Leu1128Pro)
n.3794T>C
n.3683T>C
5g.150393445T>GCA361739450TCOF1c.3560T>G (p.Leu1187Arg)
c.3677T>G (p.Leu1226Arg)
c.3332T>G (p.Leu1111Arg)
c.3076T>G
c.3443T>G (p.Leu1148Arg)
c.3674T>G (p.Leu1225Arg)
c.3563T>G (p.Leu1188Arg)
c.3446T>G (p.Leu1149Arg)
n.3724T>G
c.343-3298T>G (n.343-3298T>G)
c.3788T>G (p.Leu1263Arg)
c.3785T>G (p.Leu1262Arg)
c.3557T>G (p.Leu1186Arg)
c.3608T>G (p.Leu1203Arg)
n.3792T>G
n.3681T>G
c.3671T>G (p.Leu1224Arg)
c.3497T>G (p.Leu1166Arg)
c.3383T>G (p.Leu1128Arg)
n.3794T>G
n.3683T>G
5g.150393446A=CA1590925995TCOF1c.3561A= (p.Leu1187=)
c.3678A= (p.Leu1226=)
c.3333A= (p.Leu1111=)
c.3077A=
c.3444A= (p.Leu1148=)
c.3675A= (p.Leu1225=)
c.3564A= (p.Leu1188=)
c.3447A= (p.Leu1149=)
n.3725A=
c.343-3297A= (n.343-3297A=)
c.3789A= (p.Leu1263=)
c.3786A= (p.Leu1262=)
c.3558A= (p.Leu1186=)
c.3609A= (p.Leu1203=)
n.3793A=
n.3682A=
c.3672A= (p.Leu1224=)
c.3498A= (p.Leu1166=)
c.3384A= (p.Leu1128=)
n.3795A=
n.3684A=
5g.150393446A>CCA447157996TCOF1c.3561A>C (p.Leu1187=)
c.3678A>C (p.Leu1226=)
c.3333A>C (p.Leu1111=)
c.3077A>C
c.3444A>C (p.Leu1148=)
c.3675A>C (p.Leu1225=)
c.3564A>C (p.Leu1188=)
c.3447A>C (p.Leu1149=)
n.3725A>C
c.343-3297A>C (n.343-3297A>C)
c.3789A>C (p.Leu1263=)
c.3786A>C (p.Leu1262=)
c.3558A>C (p.Leu1186=)
c.3609A>C (p.Leu1203=)
n.3793A>C
n.3682A>C
c.3672A>C (p.Leu1224=)
c.3498A>C (p.Leu1166=)
c.3384A>C (p.Leu1128=)
n.3795A>C
n.3684A>C
5g.150393446A>GCA3511574TCOF1c.3561A>G (p.Leu1187=)
c.3678A>G (p.Leu1226=)
c.3333A>G (p.Leu1111=)
c.3077A>G
c.3444A>G (p.Leu1148=)
c.3675A>G (p.Leu1225=)
c.3564A>G (p.Leu1188=)
c.3447A>G (p.Leu1149=)
n.3725A>G
c.343-3297A>G (n.343-3297A>G)
c.3789A>G (p.Leu1263=)
c.3786A>G (p.Leu1262=)
c.3558A>G (p.Leu1186=)
c.3609A>G (p.Leu1203=)
n.3793A>G
n.3682A>G
c.3672A>G (p.Leu1224=)
c.3498A>G (p.Leu1166=)
c.3384A>G (p.Leu1128=)
n.3795A>G
n.3684A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393446A>TCA447158000TCOF1c.3561A>T (p.Leu1187=)
c.3678A>T (p.Leu1226=)
c.3333A>T (p.Leu1111=)
c.3077A>T
c.3444A>T (p.Leu1148=)
c.3675A>T (p.Leu1225=)
c.3564A>T (p.Leu1188=)
c.3447A>T (p.Leu1149=)
n.3725A>T
c.343-3297A>T (n.343-3297A>T)
c.3789A>T (p.Leu1263=)
c.3786A>T (p.Leu1262=)
c.3558A>T (p.Leu1186=)
c.3609A>T (p.Leu1203=)
n.3793A>T
n.3682A>T
c.3672A>T (p.Leu1224=)
c.3498A>T (p.Leu1166=)
c.3384A>T (p.Leu1128=)
n.3795A>T
n.3684A>T
5g.150393447G>ACA361739452TCOF1c.3562G>A (p.Asp1188Asn)
c.3679G>A (p.Asp1227Asn)
c.3334G>A (p.Asp1112Asn)
c.3078G>A
c.3445G>A (p.Asp1149Asn)
c.3676G>A (p.Asp1226Asn)
c.3565G>A (p.Asp1189Asn)
c.3448G>A (p.Asp1150Asn)
n.3726G>A
c.343-3296G>A (n.343-3296G>A)
c.3790G>A (p.Asp1264Asn)
c.3787G>A (p.Asp1263Asn)
c.3559G>A (p.Asp1187Asn)
c.3610G>A (p.Asp1204Asn)
n.3794G>A
n.3683G>A
c.3673G>A (p.Asp1225Asn)
c.3499G>A (p.Asp1167Asn)
c.3385G>A (p.Asp1129Asn)
n.3796G>A
n.3685G>A
5g.150393447G>CCA361739458TCOF1c.3562G>C (p.Asp1188His)
c.3679G>C (p.Asp1227His)
c.3334G>C (p.Asp1112His)
c.3078G>C
c.3445G>C (p.Asp1149His)
c.3676G>C (p.Asp1226His)
c.3565G>C (p.Asp1189His)
c.3448G>C (p.Asp1150His)
n.3726G>C
c.343-3296G>C (n.343-3296G>C)
c.3790G>C (p.Asp1264His)
c.3787G>C (p.Asp1263His)
c.3559G>C (p.Asp1187His)
c.3610G>C (p.Asp1204His)
n.3794G>C
n.3683G>C
c.3673G>C (p.Asp1225His)
c.3499G>C (p.Asp1167His)
c.3385G>C (p.Asp1129His)
n.3796G>C
n.3685G>C
5g.150393447G>TCA361739462TCOF1c.3562G>T (p.Asp1188Tyr)
c.3679G>T (p.Asp1227Tyr)
c.3334G>T (p.Asp1112Tyr)
c.3078G>T
c.3445G>T (p.Asp1149Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3565G>T (p.Asp1189Tyr)
c.3448G>T (p.Asp1150Tyr)
n.3726G>T
c.343-3296G>T (n.343-3296G>T)
c.3790G>T (p.Asp1264Tyr)
c.3787G>T (p.Asp1263Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3610G>T (p.Asp1204Tyr)
n.3794G>T
n.3683G>T
c.3673G>T (p.Asp1225Tyr)
c.3499G>T (p.Asp1167Tyr)
c.3385G>T (p.Asp1129Tyr)
n.3796G>T
n.3685G>T
5g.150393447_150393465delinsCTCTGGCA2580073889TCOF1c.3562_3580delinsCTCTGG (p.Asp1188LeufsTer?)
c.3679_3697delinsCTCTGG (p.Asp1227LeufsTer?)
c.3334_3352delinsCTCTGG (p.Asp1112LeufsTer?)
c.3078_3096delinsCTCTGG
c.3445_3463delinsCTCTGG (p.Asp1149LeufsTer?)
c.3676_3694delinsCTCTGG (p.Asp1226LeufsTer?)
c.3565_3583delinsCTCTGG (p.Asp1189LeufsTer?)
c.3448_3466delinsCTCTGG (p.Asp1150LeufsTer?)
n.3726_3744delinsCTCTGG
c.343-3296_343-3278delinsCTCTGG (n.343-3296_343-3278delinsCTCTGG)
c.3790_3808delinsCTCTGG (p.Asp1264LeufsTer?)
c.3787_3805delinsCTCTGG (p.Asp1263LeufsTer?)
c.3559_3577delinsCTCTGG (p.Asp1187LeufsTer?)
c.3610_3628delinsCTCTGG (p.Asp1204LeufsTer?)
n.3794_3812delinsCTCTGG
n.3683_3701delinsCTCTGG
c.3673_3691delinsCTCTGG (p.Asp1225LeufsTer?)
c.3499_3517delinsCTCTGG (p.Asp1167LeufsTer?)
c.3385_3403delinsCTCTGG (p.Asp1129LeufsTer?)
n.3796_3814delinsCTCTGG
n.3685_3703delinsCTCTGG
 ClinVar dbSNP
5g.150393448A=CA1590925996TCOF1c.3563A= (p.Asp1188=)
c.3680A= (p.Asp1227=)
c.3335A= (p.Asp1112=)
c.3079A=
c.3446A= (p.Asp1149=)
c.3677A= (p.Asp1226=)
c.3566A= (p.Asp1189=)
c.3449A= (p.Asp1150=)
n.3727A=
c.343-3295A= (n.343-3295A=)
c.3791A= (p.Asp1264=)
c.3788A= (p.Asp1263=)
c.3560A= (p.Asp1187=)
c.3611A= (p.Asp1204=)
n.3795A=
n.3684A=
c.3674A= (p.Asp1225=)
c.3500A= (p.Asp1167=)
c.3386A= (p.Asp1129=)
n.3797A=
n.3686A=
5g.150393448A>CCA361739468TCOF1c.3563A>C (p.Asp1188Ala)
c.3680A>C (p.Asp1227Ala)
c.3335A>C (p.Asp1112Ala)
c.3079A>C
c.3446A>C (p.Asp1149Ala)
c.3677A>C (p.Asp1226Ala)
c.3566A>C (p.Asp1189Ala)
c.3449A>C (p.Asp1150Ala)
n.3727A>C
c.343-3295A>C (n.343-3295A>C)
c.3791A>C (p.Asp1264Ala)
c.3788A>C (p.Asp1263Ala)
c.3560A>C (p.Asp1187Ala)
c.3611A>C (p.Asp1204Ala)
n.3795A>C
n.3684A>C
c.3674A>C (p.Asp1225Ala)
c.3500A>C (p.Asp1167Ala)
c.3386A>C (p.Asp1129Ala)
n.3797A>C
n.3686A>C
5g.150393448A>GCA361739467TCOF1c.3563A>G (p.Asp1188Gly)
c.3680A>G (p.Asp1227Gly)
c.3335A>G (p.Asp1112Gly)
c.3079A>G
c.3446A>G (p.Asp1149Gly)
c.3677A>G (p.Asp1226Gly)
c.3566A>G (p.Asp1189Gly)
c.3449A>G (p.Asp1150Gly)
n.3727A>G
c.343-3295A>G (n.343-3295A>G)
c.3791A>G (p.Asp1264Gly)
c.3788A>G (p.Asp1263Gly)
c.3560A>G (p.Asp1187Gly)
c.3611A>G (p.Asp1204Gly)
n.3795A>G
n.3684A>G
c.3674A>G (p.Asp1225Gly)
c.3500A>G (p.Asp1167Gly)
c.3386A>G (p.Asp1129Gly)
n.3797A>G
n.3686A>G
 dbSNP gnomAD v2 gnomAD v4
5g.150393448A>TCA361739465TCOF1c.3563A>T (p.Asp1188Val)
c.3680A>T (p.Asp1227Val)
c.3335A>T (p.Asp1112Val)
c.3079A>T
c.3446A>T (p.Asp1149Val)
c.3677A>T (p.Asp1226Val)
c.3566A>T (p.Asp1189Val)
c.3449A>T (p.Asp1150Val)
n.3727A>T
c.343-3295A>T (n.343-3295A>T)
c.3791A>T (p.Asp1264Val)
c.3788A>T (p.Asp1263Val)
c.3560A>T (p.Asp1187Val)
c.3611A>T (p.Asp1204Val)
n.3795A>T
n.3684A>T
c.3674A>T (p.Asp1225Val)
c.3500A>T (p.Asp1167Val)
c.3386A>T (p.Asp1129Val)
n.3797A>T
n.3686A>T
5g.150393449C>ACA361739470TCOF1c.3564C>A (p.Asp1188Glu)
c.3681C>A (p.Asp1227Glu)
c.3336C>A (p.Asp1112Glu)
c.3080C>A
c.3447C>A (p.Asp1149Glu)
c.3678C>A (p.Asp1226Glu)
c.3567C>A (p.Asp1189Glu)
c.3450C>A (p.Asp1150Glu)
n.3728C>A
c.343-3294C>A (n.343-3294C>A)
c.3792C>A (p.Asp1264Glu)
c.3789C>A (p.Asp1263Glu)
c.3561C>A (p.Asp1187Glu)
c.3612C>A (p.Asp1204Glu)
n.3796C>A
n.3685C>A
c.3675C>A (p.Asp1225Glu)
c.3501C>A (p.Asp1167Glu)
c.3387C>A (p.Asp1129Glu)
n.3798C>A
n.3687C>A
5g.150393449C=CA1590925997TCOF1c.3564C= (p.Asp1188=)
c.3681C= (p.Asp1227=)
c.3336C= (p.Asp1112=)
c.3080C=
c.3447C= (p.Asp1149=)
c.3678C= (p.Asp1226=)
c.3567C= (p.Asp1189=)
c.3450C= (p.Asp1150=)
n.3728C=
c.343-3294C= (n.343-3294C=)
c.3792C= (p.Asp1264=)
c.3789C= (p.Asp1263=)
c.3561C= (p.Asp1187=)
c.3612C= (p.Asp1204=)
n.3796C=
n.3685C=
c.3675C= (p.Asp1225=)
c.3501C= (p.Asp1167=)
c.3387C= (p.Asp1129=)
n.3798C=
n.3687C=
5g.150393449C>GCA361739469TCOF1c.3564C>G (p.Asp1188Glu)
c.3681C>G (p.Asp1227Glu)
c.3336C>G (p.Asp1112Glu)
c.3080C>G
c.3447C>G (p.Asp1149Glu)
c.3678C>G (p.Asp1226Glu)
c.3567C>G (p.Asp1189Glu)
c.3450C>G (p.Asp1150Glu)
n.3728C>G
c.343-3294C>G (n.343-3294C>G)
c.3792C>G (p.Asp1264Glu)
c.3789C>G (p.Asp1263Glu)
c.3561C>G (p.Asp1187Glu)
c.3612C>G (p.Asp1204Glu)
n.3796C>G
n.3685C>G
c.3675C>G (p.Asp1225Glu)
c.3501C>G (p.Asp1167Glu)
c.3387C>G (p.Asp1129Glu)
n.3798C>G
n.3687C>G
5g.150393449C>TCA447158010TCOF1c.3564C>T (p.Asp1188=)
c.3681C>T (p.Asp1227=)
c.3336C>T (p.Asp1112=)
c.3080C>T
c.3447C>T (p.Asp1149=)
c.3678C>T (p.Asp1226=)
c.3567C>T (p.Asp1189=)
c.3450C>T (p.Asp1150=)
n.3728C>T
c.343-3294C>T (n.343-3294C>T)
c.3792C>T (p.Asp1264=)
c.3789C>T (p.Asp1263=)
c.3561C>T (p.Asp1187=)
c.3612C>T (p.Asp1204=)
n.3796C>T
n.3685C>T
c.3675C>T (p.Asp1225=)
c.3501C>T (p.Asp1167=)
c.3387C>T (p.Asp1129=)
n.3798C>T
n.3687C>T
 dbSNP gnomAD v2 gnomAD v4
5g.150393450T>ACA361739473TCOF1c.3565T>A (p.Ser1189Thr)
c.3682T>A (p.Ser1228Thr)
c.3337T>A (p.Ser1113Thr)
c.3081T>A
c.3448T>A (p.Ser1150Thr)
c.3679T>A (p.Ser1227Thr)
c.3568T>A (p.Ser1190Thr)
c.3451T>A (p.Ser1151Thr)
n.3729T>A
c.343-3293T>A (n.343-3293T>A)
c.3793T>A (p.Ser1265Thr)
c.3790T>A (p.Ser1264Thr)
c.3562T>A (p.Ser1188Thr)
c.3613T>A (p.Ser1205Thr)
n.3797T>A
n.3686T>A
c.3676T>A (p.Ser1226Thr)
c.3502T>A (p.Ser1168Thr)
c.3388T>A (p.Ser1130Thr)
n.3799T>A
n.3688T>A
5g.150393450T>CCA361739474TCOF1c.3565T>C (p.Ser1189Pro)
c.3682T>C (p.Ser1228Pro)
c.3337T>C (p.Ser1113Pro)
c.3081T>C
c.3448T>C (p.Ser1150Pro)
c.3679T>C (p.Ser1227Pro)
c.3568T>C (p.Ser1190Pro)
c.3451T>C (p.Ser1151Pro)
n.3729T>C
c.343-3293T>C (n.343-3293T>C)
c.3793T>C (p.Ser1265Pro)
c.3790T>C (p.Ser1264Pro)
c.3562T>C (p.Ser1188Pro)
c.3613T>C (p.Ser1205Pro)
n.3797T>C
n.3686T>C
c.3676T>C (p.Ser1226Pro)
c.3502T>C (p.Ser1168Pro)
c.3388T>C (p.Ser1130Pro)
n.3799T>C
n.3688T>C
5g.150393450T>GCA361739475TCOF1c.3565T>G (p.Ser1189Ala)
c.3682T>G (p.Ser1228Ala)
c.3337T>G (p.Ser1113Ala)
c.3081T>G
c.3448T>G (p.Ser1150Ala)
c.3679T>G (p.Ser1227Ala)
c.3568T>G (p.Ser1190Ala)
c.3451T>G (p.Ser1151Ala)
n.3729T>G
c.343-3293T>G (n.343-3293T>G)
c.3793T>G (p.Ser1265Ala)
c.3790T>G (p.Ser1264Ala)
c.3562T>G (p.Ser1188Ala)
c.3613T>G (p.Ser1205Ala)
n.3797T>G
n.3686T>G
c.3676T>G (p.Ser1226Ala)
c.3502T>G (p.Ser1168Ala)
c.3388T>G (p.Ser1130Ala)
n.3799T>G
n.3688T>G
5g.150393451C>ACA361739476TCOF1c.3566C>A (p.Ser1189Tyr)
c.3683C>A (p.Ser1228Tyr)
c.3338C>A (p.Ser1113Tyr)
c.3082C>A
c.3449C>A (p.Ser1150Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3569C>A (p.Ser1190Tyr)
c.3452C>A (p.Ser1151Tyr)
n.3730C>A
c.343-3292C>A (n.343-3292C>A)
c.3794C>A (p.Ser1265Tyr)
c.3791C>A (p.Ser1264Tyr)
c.3563C>A (p.Ser1188Tyr)
c.3614C>A (p.Ser1205Tyr)
n.3798C>A
n.3687C>A
c.3677C>A (p.Ser1226Tyr)
c.3503C>A (p.Ser1168Tyr)
c.3389C>A (p.Ser1130Tyr)
n.3800C>A
n.3689C>A
5g.150393451C=CA1590925998TCOF1c.3566C= (p.Ser1189=)
c.3683C= (p.Ser1228=)
c.3338C= (p.Ser1113=)
c.3082C=
c.3449C= (p.Ser1150=)
c.3680C= (p.Ser1227=)
c.3569C= (p.Ser1190=)
c.3452C= (p.Ser1151=)
n.3730C=
c.343-3292C= (n.343-3292C=)
c.3794C= (p.Ser1265=)
c.3791C= (p.Ser1264=)
c.3563C= (p.Ser1188=)
c.3614C= (p.Ser1205=)
n.3798C=
n.3687C=
c.3677C= (p.Ser1226=)
c.3503C= (p.Ser1168=)
c.3389C= (p.Ser1130=)
n.3800C=
n.3689C=
5g.150393451C>GCA361739478TCOF1c.3566C>G (p.Ser1189Cys)
c.3683C>G (p.Ser1228Cys)
c.3338C>G (p.Ser1113Cys)
c.3082C>G
c.3449C>G (p.Ser1150Cys)
c.3680C>G (p.Ser1227Cys)
c.3569C>G (p.Ser1190Cys)
c.3452C>G (p.Ser1151Cys)
n.3730C>G
c.343-3292C>G (n.343-3292C>G)
c.3794C>G (p.Ser1265Cys)
c.3791C>G (p.Ser1264Cys)
c.3563C>G (p.Ser1188Cys)
c.3614C>G (p.Ser1205Cys)
n.3798C>G
n.3687C>G
c.3677C>G (p.Ser1226Cys)
c.3503C>G (p.Ser1168Cys)
c.3389C>G (p.Ser1130Cys)
n.3800C>G
n.3689C>G
5g.150393451C>TCA361739480TCOF1c.3566C>T (p.Ser1189Phe)
c.3683C>T (p.Ser1228Phe)
c.3338C>T (p.Ser1113Phe)
c.3082C>T
c.3449C>T (p.Ser1150Phe)
c.3680C>T (p.Ser1227Phe)
c.3569C>T (p.Ser1190Phe)
c.3452C>T (p.Ser1151Phe)
n.3730C>T
c.343-3292C>T (n.343-3292C>T)
c.3794C>T (p.Ser1265Phe)
c.3791C>T (p.Ser1264Phe)
c.3563C>T (p.Ser1188Phe)
c.3614C>T (p.Ser1205Phe)
n.3798C>T
n.3687C>T
c.3677C>T (p.Ser1226Phe)
c.3503C>T (p.Ser1168Phe)
c.3389C>T (p.Ser1130Phe)
n.3800C>T
n.3689C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.150393452C>ACA447158019TCOF1c.3567C>A (p.Ser1189=)
c.3684C>A (p.Ser1228=)
c.3339C>A (p.Ser1113=)
c.3083C>A
c.3450C>A (p.Ser1150=)
c.3681C>A (p.Ser1227=)
c.3570C>A (p.Ser1190=)
c.3453C>A (p.Ser1151=)
n.3731C>A
c.343-3291C>A (n.343-3291C>A)
c.3795C>A (p.Ser1265=)
c.3792C>A (p.Ser1264=)
c.3564C>A (p.Ser1188=)
c.3615C>A (p.Ser1205=)
n.3799C>A
n.3688C>A
c.3678C>A (p.Ser1226=)
c.3504C>A (p.Ser1168=)
c.3390C>A (p.Ser1130=)
n.3801C>A
n.3690C>A
5g.150393452C>GCA447158021TCOF1c.3567C>G (p.Ser1189=)
c.3684C>G (p.Ser1228=)
c.3339C>G (p.Ser1113=)
c.3083C>G
c.3450C>G (p.Ser1150=)
c.3681C>G (p.Ser1227=)
c.3570C>G (p.Ser1190=)
c.3453C>G (p.Ser1151=)
n.3731C>G
c.343-3291C>G (n.343-3291C>G)
c.3795C>G (p.Ser1265=)
c.3792C>G (p.Ser1264=)
c.3564C>G (p.Ser1188=)
c.3615C>G (p.Ser1205=)
n.3799C>G
n.3688C>G
c.3678C>G (p.Ser1226=)
c.3504C>G (p.Ser1168=)
c.3390C>G (p.Ser1130=)
n.3801C>G
n.3690C>G
5g.150393452C>TCA447158023TCOF1c.3567C>T (p.Ser1189=)
c.3684C>T (p.Ser1228=)
c.3339C>T (p.Ser1113=)
c.3083C>T
c.3450C>T (p.Ser1150=)
c.3681C>T (p.Ser1227=)
c.3570C>T (p.Ser1190=)
c.3453C>T (p.Ser1151=)
n.3731C>T
c.343-3291C>T (n.343-3291C>T)
c.3795C>T (p.Ser1265=)
c.3792C>T (p.Ser1264=)
c.3564C>T (p.Ser1188=)
c.3615C>T (p.Ser1205=)
n.3799C>T
n.3688C>T
c.3678C>T (p.Ser1226=)
c.3504C>T (p.Ser1168=)
c.3390C>T (p.Ser1130=)
n.3801C>T
n.3690C>T
5g.150393453A>CCA361739481TCOF1c.3568A>C (p.Ser1190Arg)
c.3685A>C (p.Ser1229Arg)
c.3340A>C (p.Ser1114Arg)
c.3084A>C
c.3451A>C (p.Ser1151Arg)
c.3682A>C (p.Ser1228Arg)
c.3571A>C (p.Ser1191Arg)
c.3454A>C (p.Ser1152Arg)
n.3732A>C
c.343-3290A>C (n.343-3290A>C)
c.3796A>C (p.Ser1266Arg)
c.3793A>C (p.Ser1265Arg)
c.3565A>C (p.Ser1189Arg)
c.3616A>C (p.Ser1206Arg)
n.3800A>C
n.3689A>C
c.3679A>C (p.Ser1227Arg)
c.3505A>C (p.Ser1169Arg)
c.3391A>C (p.Ser1131Arg)
n.3802A>C
n.3691A>C
5g.150393453A>GCA361739483TCOF1c.3568A>G (p.Ser1190Gly)
c.3685A>G (p.Ser1229Gly)
c.3340A>G (p.Ser1114Gly)
c.3084A>G
c.3451A>G (p.Ser1151Gly)
c.3682A>G (p.Ser1228Gly)
c.3571A>G (p.Ser1191Gly)
c.3454A>G (p.Ser1152Gly)
n.3732A>G
c.343-3290A>G (n.343-3290A>G)
c.3796A>G (p.Ser1266Gly)
c.3793A>G (p.Ser1265Gly)
c.3565A>G (p.Ser1189Gly)
c.3616A>G (p.Ser1206Gly)
n.3800A>G
n.3689A>G
c.3679A>G (p.Ser1227Gly)
c.3505A>G (p.Ser1169Gly)
c.3391A>G (p.Ser1131Gly)
n.3802A>G
n.3691A>G
5g.150393453A>TCA361739485TCOF1c.3568A>T (p.Ser1190Cys)
c.3685A>T (p.Ser1229Cys)
c.3340A>T (p.Ser1114Cys)
c.3084A>T
c.3451A>T (p.Ser1151Cys)
c.3682A>T (p.Ser1228Cys)
c.3571A>T (p.Ser1191Cys)
c.3454A>T (p.Ser1152Cys)
n.3732A>T
c.343-3290A>T (n.343-3290A>T)
c.3796A>T (p.Ser1266Cys)
c.3793A>T (p.Ser1265Cys)
c.3565A>T (p.Ser1189Cys)
c.3616A>T (p.Ser1206Cys)
n.3800A>T
n.3689A>T
c.3679A>T (p.Ser1227Cys)
c.3505A>T (p.Ser1169Cys)
c.3391A>T (p.Ser1131Cys)
n.3802A>T
n.3691A>T
5g.150393454G>ACA361739487TCOF1c.3569G>A (p.Ser1190Asn)
c.3686G>A (p.Ser1229Asn)
c.3341G>A (p.Ser1114Asn)
c.3085G>A
c.3452G>A (p.Ser1151Asn)
c.3683G>A (p.Ser1228Asn)
c.3572G>A (p.Ser1191Asn)
c.3455G>A (p.Ser1152Asn)
n.3733G>A
c.343-3289G>A (n.343-3289G>A)
c.3797G>A (p.Ser1266Asn)
c.3794G>A (p.Ser1265Asn)
c.3566G>A (p.Ser1189Asn)
c.3617G>A (p.Ser1206Asn)
n.3801G>A
n.3690G>A
c.3680G>A (p.Ser1227Asn)
c.3506G>A (p.Ser1169Asn)
c.3392G>A (p.Ser1131Asn)
n.3803G>A
n.3692G>A
 dbSNP gnomAD v2 gnomAD v4
5g.150393454G>CCA361739497TCOF1c.3569G>C (p.Ser1190Thr)
c.3686G>C (p.Ser1229Thr)
c.3341G>C (p.Ser1114Thr)
c.3085G>C
c.3452G>C (p.Ser1151Thr)
c.3683G>C (p.Ser1228Thr)
c.3572G>C (p.Ser1191Thr)
c.3455G>C (p.Ser1152Thr)
n.3733G>C
c.343-3289G>C (n.343-3289G>C)
c.3797G>C (p.Ser1266Thr)
c.3794G>C (p.Ser1265Thr)
c.3566G>C (p.Ser1189Thr)
c.3617G>C (p.Ser1206Thr)
n.3801G>C
n.3690G>C
c.3680G>C (p.Ser1227Thr)
c.3506G>C (p.Ser1169Thr)
c.3392G>C (p.Ser1131Thr)
n.3803G>C
n.3692G>C
5g.150393454G=CA1590925999TCOF1c.3569G= (p.Ser1190=)
c.3686G= (p.Ser1229=)
c.3341G= (p.Ser1114=)
c.3085G=
c.3452G= (p.Ser1151=)
c.3683G= (p.Ser1228=)
c.3572G= (p.Ser1191=)
c.3455G= (p.Ser1152=)
n.3733G=
c.343-3289G= (n.343-3289G=)
c.3797G= (p.Ser1266=)
c.3794G= (p.Ser1265=)
c.3566G= (p.Ser1189=)
c.3617G= (p.Ser1206=)
n.3801G=
n.3690G=
c.3680G= (p.Ser1227=)
c.3506G= (p.Ser1169=)
c.3392G= (p.Ser1131=)
n.3803G=
n.3692G=
5g.150393454G>TCA361739500TCOF1c.3569G>T (p.Ser1190Ile)
c.3686G>T (p.Ser1229Ile)
c.3341G>T (p.Ser1114Ile)
c.3085G>T
c.3452G>T (p.Ser1151Ile)
c.3683G>T (p.Ser1228Ile)
c.3572G>T (p.Ser1191Ile)
c.3455G>T (p.Ser1152Ile)
n.3733G>T
c.343-3289G>T (n.343-3289G>T)
c.3797G>T (p.Ser1266Ile)
c.3794G>T (p.Ser1265Ile)
c.3566G>T (p.Ser1189Ile)
c.3617G>T (p.Ser1206Ile)
n.3801G>T
n.3690G>T
c.3680G>T (p.Ser1227Ile)
c.3506G>T (p.Ser1169Ile)
c.3392G>T (p.Ser1131Ile)
n.3803G>T
n.3692G>T
 COSMIC COSMIC
5g.150393455C>ACA361739503TCOF1c.3570C>A (p.Ser1190Arg)
c.3687C>A (p.Ser1229Arg)
c.3342C>A (p.Ser1114Arg)
c.3086C>A
c.3453C>A (p.Ser1151Arg)
c.3684C>A (p.Ser1228Arg)
c.3573C>A (p.Ser1191Arg)
c.3456C>A (p.Ser1152Arg)
n.3734C>A
c.343-3288C>A (n.343-3288C>A)
c.3798C>A (p.Ser1266Arg)
c.3795C>A (p.Ser1265Arg)
c.3567C>A (p.Ser1189Arg)
c.3618C>A (p.Ser1206Arg)
n.3802C>A
n.3691C>A
c.3681C>A (p.Ser1227Arg)
c.3507C>A (p.Ser1169Arg)
c.3393C>A (p.Ser1131Arg)
n.3804C>A
n.3693C>A
5g.150393455C=CA1590926000TCOF1c.3570C= (p.Ser1190=)
c.3687C= (p.Ser1229=)
c.3342C= (p.Ser1114=)
c.3086C=
c.3453C= (p.Ser1151=)
c.3684C= (p.Ser1228=)
c.3573C= (p.Ser1191=)
c.3456C= (p.Ser1152=)
n.3734C=
c.343-3288C= (n.343-3288C=)
c.3798C= (p.Ser1266=)
c.3795C= (p.Ser1265=)
c.3567C= (p.Ser1189=)
c.3618C= (p.Ser1206=)
n.3802C=
n.3691C=
c.3681C= (p.Ser1227=)
c.3507C= (p.Ser1169=)
c.3393C= (p.Ser1131=)
n.3804C=
n.3693C=
5g.150393455C>GCA129107242TCOF1c.3570C>G (p.Ser1190Arg)
c.3687C>G (p.Ser1229Arg)
c.3342C>G (p.Ser1114Arg)
c.3086C>G
c.3453C>G (p.Ser1151Arg)
c.3684C>G (p.Ser1228Arg)
c.3573C>G (p.Ser1191Arg)
c.3456C>G (p.Ser1152Arg)
n.3734C>G
c.343-3288C>G (n.343-3288C>G)
c.3798C>G (p.Ser1266Arg)
c.3795C>G (p.Ser1265Arg)
c.3567C>G (p.Ser1189Arg)
c.3618C>G (p.Ser1206Arg)
n.3802C>G
n.3691C>G
c.3681C>G (p.Ser1227Arg)
c.3507C>G (p.Ser1169Arg)
c.3393C>G (p.Ser1131Arg)
n.3804C>G
n.3693C>G
 dbSNP gnomAD v3 gnomAD v4
5g.150393455C>TCA447158031TCOF1c.3570C>T (p.Ser1190=)
c.3687C>T (p.Ser1229=)
c.3342C>T (p.Ser1114=)
c.3086C>T
c.3453C>T (p.Ser1151=)
c.3684C>T (p.Ser1228=)
c.3573C>T (p.Ser1191=)
c.3456C>T (p.Ser1152=)
n.3734C>T
c.343-3288C>T (n.343-3288C>T)
c.3798C>T (p.Ser1266=)
c.3795C>T (p.Ser1265=)
c.3567C>T (p.Ser1189=)
c.3618C>T (p.Ser1206=)
n.3802C>T
n.3691C>T
c.3681C>T (p.Ser1227=)
c.3507C>T (p.Ser1169=)
c.3393C>T (p.Ser1131=)
n.3804C>T
n.3693C>T
 dbSNP
5g.150393456C>ACA3511575TCOF1c.3571C>A (p.Pro1191Thr)
c.3688C>A (p.Pro1230Thr)
c.3343C>A (p.Pro1115Thr)
c.3087C>A
c.3454C>A (p.Pro1152Thr)
c.3685C>A (p.Pro1229Thr)
c.3574C>A (p.Pro1192Thr)
c.3457C>A (p.Pro1153Thr)
n.3735C>A
c.343-3287C>A (n.343-3287C>A)
c.3799C>A (p.Pro1267Thr)
c.3796C>A (p.Pro1266Thr)
c.3568C>A (p.Pro1190Thr)
c.3619C>A (p.Pro1207Thr)
n.3803C>A
n.3692C>A
c.3682C>A (p.Pro1228Thr)
c.3508C>A (p.Pro1170Thr)
c.3394C>A (p.Pro1132Thr)
n.3805C>A
n.3694C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393456C=CA1590926001TCOF1c.3571C= (p.Pro1191=)
c.3688C= (p.Pro1230=)
c.3343C= (p.Pro1115=)
c.3087C=
c.3454C= (p.Pro1152=)
c.3685C= (p.Pro1229=)
c.3574C= (p.Pro1192=)
c.3457C= (p.Pro1153=)
n.3735C=
c.343-3287C= (n.343-3287C=)
c.3799C= (p.Pro1267=)
c.3796C= (p.Pro1266=)
c.3568C= (p.Pro1190=)
c.3619C= (p.Pro1207=)
n.3803C=
n.3692C=
c.3682C= (p.Pro1228=)
c.3508C= (p.Pro1170=)
c.3394C= (p.Pro1132=)
n.3805C=
n.3694C=
5g.150393456C>GCA361739510TCOF1c.3571C>G (p.Pro1191Ala)
c.3688C>G (p.Pro1230Ala)
c.3343C>G (p.Pro1115Ala)
c.3087C>G
c.3454C>G (p.Pro1152Ala)
c.3685C>G (p.Pro1229Ala)
c.3574C>G (p.Pro1192Ala)
c.3457C>G (p.Pro1153Ala)
n.3735C>G
c.343-3287C>G (n.343-3287C>G)
c.3799C>G (p.Pro1267Ala)
c.3796C>G (p.Pro1266Ala)
c.3568C>G (p.Pro1190Ala)
c.3619C>G (p.Pro1207Ala)
n.3803C>G
n.3692C>G
c.3682C>G (p.Pro1228Ala)
c.3508C>G (p.Pro1170Ala)
c.3394C>G (p.Pro1132Ala)
n.3805C>G
n.3694C>G
5g.150393456C>TCA361739511TCOF1c.3571C>T (p.Pro1191Ser)
c.3688C>T (p.Pro1230Ser)
c.3343C>T (p.Pro1115Ser)
c.3087C>T
c.3454C>T (p.Pro1152Ser)
c.3685C>T (p.Pro1229Ser)
c.3574C>T (p.Pro1192Ser)
c.3457C>T (p.Pro1153Ser)
n.3735C>T
c.343-3287C>T (n.343-3287C>T)
c.3799C>T (p.Pro1267Ser)
c.3796C>T (p.Pro1266Ser)
c.3568C>T (p.Pro1190Ser)
c.3619C>T (p.Pro1207Ser)
n.3803C>T
n.3692C>T
c.3682C>T (p.Pro1228Ser)
c.3508C>T (p.Pro1170Ser)
c.3394C>T (p.Pro1132Ser)
n.3805C>T
n.3694C>T
 gnomAD v4 COSMIC COSMIC
5g.150393457C>ACA361739513TCOF1c.3572C>A (p.Pro1191His)
c.3689C>A (p.Pro1230His)
c.3344C>A (p.Pro1115His)
c.3088C>A
c.3455C>A (p.Pro1152His)
c.3686C>A (p.Pro1229His)
c.3575C>A (p.Pro1192His)
c.3458C>A (p.Pro1153His)
n.3736C>A
c.343-3286C>A (n.343-3286C>A)
c.3800C>A (p.Pro1267His)
c.3797C>A (p.Pro1266His)
c.3569C>A (p.Pro1190His)
c.3620C>A (p.Pro1207His)
n.3804C>A
n.3693C>A
c.3683C>A (p.Pro1228His)
c.3509C>A (p.Pro1170His)
c.3395C>A (p.Pro1132His)
n.3806C>A
n.3695C>A
 gnomAD v4
5g.150393457C=CA1590926002TCOF1c.3572C= (p.Pro1191=)
c.3689C= (p.Pro1230=)
c.3344C= (p.Pro1115=)
c.3088C=
c.3455C= (p.Pro1152=)
c.3686C= (p.Pro1229=)
c.3575C= (p.Pro1192=)
c.3458C= (p.Pro1153=)
n.3736C=
c.343-3286C= (n.343-3286C=)
c.3800C= (p.Pro1267=)
c.3797C= (p.Pro1266=)
c.3569C= (p.Pro1190=)
c.3620C= (p.Pro1207=)
n.3804C=
n.3693C=
c.3683C= (p.Pro1228=)
c.3509C= (p.Pro1170=)
c.3395C= (p.Pro1132=)
n.3806C=
n.3695C=
5g.150393457C>GCA361739514TCOF1c.3572C>G (p.Pro1191Arg)
c.3689C>G (p.Pro1230Arg)
c.3344C>G (p.Pro1115Arg)
c.3088C>G
c.3455C>G (p.Pro1152Arg)
c.3686C>G (p.Pro1229Arg)
c.3575C>G (p.Pro1192Arg)
c.3458C>G (p.Pro1153Arg)
n.3736C>G
c.343-3286C>G (n.343-3286C>G)
c.3800C>G (p.Pro1267Arg)
c.3797C>G (p.Pro1266Arg)
c.3569C>G (p.Pro1190Arg)
c.3620C>G (p.Pro1207Arg)
n.3804C>G
n.3693C>G
c.3683C>G (p.Pro1228Arg)
c.3509C>G (p.Pro1170Arg)
c.3395C>G (p.Pro1132Arg)
n.3806C>G
n.3695C>G
5g.150393457C>TCA3511576TCOF1c.3572C>T (p.Pro1191Leu)
c.3689C>T (p.Pro1230Leu)
c.3344C>T (p.Pro1115Leu)
c.3088C>T
c.3455C>T (p.Pro1152Leu)
c.3686C>T (p.Pro1229Leu)
c.3575C>T (p.Pro1192Leu)
c.3458C>T (p.Pro1153Leu)
n.3736C>T
c.343-3286C>T (n.343-3286C>T)
c.3800C>T (p.Pro1267Leu)
c.3797C>T (p.Pro1266Leu)
c.3569C>T (p.Pro1190Leu)
c.3620C>T (p.Pro1207Leu)
n.3804C>T
n.3693C>T
c.3683C>T (p.Pro1228Leu)
c.3509C>T (p.Pro1170Leu)
c.3395C>T (p.Pro1132Leu)
n.3806C>T
n.3695C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393458C>ACA447158045TCOF1c.3573C>A (p.Pro1191=)
c.3690C>A (p.Pro1230=)
c.3345C>A (p.Pro1115=)
c.3089C>A
c.3456C>A (p.Pro1152=)
c.3687C>A (p.Pro1229=)
c.3576C>A (p.Pro1192=)
c.3459C>A (p.Pro1153=)
n.3737C>A
c.343-3285C>A (n.343-3285C>A)
c.3801C>A (p.Pro1267=)
c.3798C>A (p.Pro1266=)
c.3570C>A (p.Pro1190=)
c.3621C>A (p.Pro1207=)
n.3805C>A
n.3694C>A
c.3684C>A (p.Pro1228=)
c.3510C>A (p.Pro1170=)
c.3396C>A (p.Pro1132=)
n.3807C>A
n.3696C>A
5g.150393458C>GCA447158043TCOF1c.3573C>G (p.Pro1191=)
c.3690C>G (p.Pro1230=)
c.3345C>G (p.Pro1115=)
c.3089C>G
c.3456C>G (p.Pro1152=)
c.3687C>G (p.Pro1229=)
c.3576C>G (p.Pro1192=)
c.3459C>G (p.Pro1153=)
n.3737C>G
c.343-3285C>G (n.343-3285C>G)
c.3801C>G (p.Pro1267=)
c.3798C>G (p.Pro1266=)
c.3570C>G (p.Pro1190=)
c.3621C>G (p.Pro1207=)
n.3805C>G
n.3694C>G
c.3684C>G (p.Pro1228=)
c.3510C>G (p.Pro1170=)
c.3396C>G (p.Pro1132=)
n.3807C>G
n.3696C>G
5g.150393458C>TCA447158040TCOF1c.3573C>T (p.Pro1191=)
c.3690C>T (p.Pro1230=)
c.3345C>T (p.Pro1115=)
c.3089C>T
c.3456C>T (p.Pro1152=)
c.3687C>T (p.Pro1229=)
c.3576C>T (p.Pro1192=)
c.3459C>T (p.Pro1153=)
n.3737C>T
c.343-3285C>T (n.343-3285C>T)
c.3801C>T (p.Pro1267=)
c.3798C>T (p.Pro1266=)
c.3570C>T (p.Pro1190=)
c.3621C>T (p.Pro1207=)
n.3805C>T
n.3694C>T
c.3684C>T (p.Pro1228=)
c.3510C>T (p.Pro1170=)
c.3396C>T (p.Pro1132=)
n.3807C>T
n.3696C>T
5g.150393459T>ACA361739517TCOF1c.3574T>A (p.Ser1192Thr)
c.3691T>A (p.Ser1231Thr)
c.3346T>A (p.Ser1116Thr)
c.3090T>A
c.3457T>A (p.Ser1153Thr)
c.3688T>A (p.Ser1230Thr)
c.3577T>A (p.Ser1193Thr)
c.3460T>A (p.Ser1154Thr)
n.3738T>A
c.343-3284T>A (n.343-3284T>A)
c.3802T>A (p.Ser1268Thr)
c.3799T>A (p.Ser1267Thr)
c.3571T>A (p.Ser1191Thr)
c.3622T>A (p.Ser1208Thr)
n.3806T>A
n.3695T>A
c.3685T>A (p.Ser1229Thr)
c.3511T>A (p.Ser1171Thr)
c.3397T>A (p.Ser1133Thr)
n.3808T>A
n.3697T>A
5g.150393459T>CCA361739522TCOF1c.3574T>C (p.Ser1192Pro)
c.3691T>C (p.Ser1231Pro)
c.3346T>C (p.Ser1116Pro)
c.3090T>C
c.3457T>C (p.Ser1153Pro)
c.3688T>C (p.Ser1230Pro)
c.3577T>C (p.Ser1193Pro)
c.3460T>C (p.Ser1154Pro)
n.3738T>C
c.343-3284T>C (n.343-3284T>C)
c.3802T>C (p.Ser1268Pro)
c.3799T>C (p.Ser1267Pro)
c.3571T>C (p.Ser1191Pro)
c.3622T>C (p.Ser1208Pro)
n.3806T>C
n.3695T>C
c.3685T>C (p.Ser1229Pro)
c.3511T>C (p.Ser1171Pro)
c.3397T>C (p.Ser1133Pro)
n.3808T>C
n.3697T>C
5g.150393459T>GCA361739523TCOF1c.3574T>G (p.Ser1192Ala)
c.3691T>G (p.Ser1231Ala)
c.3346T>G (p.Ser1116Ala)
c.3090T>G
c.3457T>G (p.Ser1153Ala)
c.3688T>G (p.Ser1230Ala)
c.3577T>G (p.Ser1193Ala)
c.3460T>G (p.Ser1154Ala)
n.3738T>G
c.343-3284T>G (n.343-3284T>G)
c.3802T>G (p.Ser1268Ala)
c.3799T>G (p.Ser1267Ala)
c.3571T>G (p.Ser1191Ala)
c.3622T>G (p.Ser1208Ala)
n.3806T>G
n.3695T>G
c.3685T>G (p.Ser1229Ala)
c.3511T>G (p.Ser1171Ala)
c.3397T>G (p.Ser1133Ala)
n.3808T>G
n.3697T>G
5g.150393460C>ACA361739524TCOF1c.3575C>A (p.Ser1192Ter)
c.3692C>A (p.Ser1231Ter)
c.3347C>A (p.Ser1116Ter)
c.3091C>A
c.3458C>A (p.Ser1153Ter)
c.3689C>A (p.Ser1230Ter)
c.3578C>A (p.Ser1193Ter)
c.3461C>A (p.Ser1154Ter)
n.3739C>A
c.343-3283C>A (n.343-3283C>A)
c.3803C>A (p.Ser1268Ter)
c.3800C>A (p.Ser1267Ter)
c.3572C>A (p.Ser1191Ter)
c.3623C>A (p.Ser1208Ter)
n.3807C>A
n.3696C>A
c.3686C>A (p.Ser1229Ter)
c.3512C>A (p.Ser1171Ter)
c.3398C>A (p.Ser1133Ter)
n.3809C>A
n.3698C>A
5g.150393460C>GCA361739530TCOF1c.3575C>G (p.Ser1192Ter)
c.3692C>G (p.Ser1231Ter)
c.3347C>G (p.Ser1116Ter)
c.3091C>G
c.3458C>G (p.Ser1153Ter)
c.3689C>G (p.Ser1230Ter)
c.3578C>G (p.Ser1193Ter)
c.3461C>G (p.Ser1154Ter)
n.3739C>G
c.343-3283C>G (n.343-3283C>G)
c.3803C>G (p.Ser1268Ter)
c.3800C>G (p.Ser1267Ter)
c.3572C>G (p.Ser1191Ter)
c.3623C>G (p.Ser1208Ter)
n.3807C>G
n.3696C>G
c.3686C>G (p.Ser1229Ter)
c.3512C>G (p.Ser1171Ter)
c.3398C>G (p.Ser1133Ter)
n.3809C>G
n.3698C>G
5g.150393460C>TCA361739531TCOF1c.3575C>T (p.Ser1192Leu)
c.3692C>T (p.Ser1231Leu)
c.3347C>T (p.Ser1116Leu)
c.3091C>T
c.3458C>T (p.Ser1153Leu)
c.3689C>T (p.Ser1230Leu)
c.3578C>T (p.Ser1193Leu)
c.3461C>T (p.Ser1154Leu)
n.3739C>T
c.343-3283C>T (n.343-3283C>T)
c.3803C>T (p.Ser1268Leu)
c.3800C>T (p.Ser1267Leu)
c.3572C>T (p.Ser1191Leu)
c.3623C>T (p.Ser1208Leu)
n.3807C>T
n.3696C>T
c.3686C>T (p.Ser1229Leu)
c.3512C>T (p.Ser1171Leu)
c.3398C>T (p.Ser1133Leu)
n.3809C>T
n.3698C>T
5g.150393461A=CA1590926003TCOF1c.3576A= (p.Ser1192=)
c.3693A= (p.Ser1231=)
c.3348A= (p.Ser1116=)
c.3092A=
c.3459A= (p.Ser1153=)
c.3690A= (p.Ser1230=)
c.3579A= (p.Ser1193=)
c.3462A= (p.Ser1154=)
n.3740A=
c.343-3282A= (n.343-3282A=)
c.3804A= (p.Ser1268=)
c.3801A= (p.Ser1267=)
c.3573A= (p.Ser1191=)
c.3624A= (p.Ser1208=)
n.3808A=
n.3697A=
c.3687A= (p.Ser1229=)
c.3513A= (p.Ser1171=)
c.3399A= (p.Ser1133=)
n.3810A=
n.3699A=
5g.150393461A>CCA3511577TCOF1c.3576A>C (p.Ser1192=)
c.3693A>C (p.Ser1231=)
c.3348A>C (p.Ser1116=)
c.3092A>C
c.3459A>C (p.Ser1153=)
c.3690A>C (p.Ser1230=)
c.3579A>C (p.Ser1193=)
c.3462A>C (p.Ser1154=)
n.3740A>C
c.343-3282A>C (n.343-3282A>C)
c.3804A>C (p.Ser1268=)
c.3801A>C (p.Ser1267=)
c.3573A>C (p.Ser1191=)
c.3624A>C (p.Ser1208=)
n.3808A>C
n.3697A>C
c.3687A>C (p.Ser1229=)
c.3513A>C (p.Ser1171=)
c.3399A>C (p.Ser1133=)
n.3810A>C
n.3699A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393461A>GCA447158054TCOF1c.3576A>G (p.Ser1192=)
c.3693A>G (p.Ser1231=)
c.3348A>G (p.Ser1116=)
c.3092A>G
c.3459A>G (p.Ser1153=)
c.3690A>G (p.Ser1230=)
c.3579A>G (p.Ser1193=)
c.3462A>G (p.Ser1154=)
n.3740A>G
c.343-3282A>G (n.343-3282A>G)
c.3804A>G (p.Ser1268=)
c.3801A>G (p.Ser1267=)
c.3573A>G (p.Ser1191=)
c.3624A>G (p.Ser1208=)
n.3808A>G
n.3697A>G
c.3687A>G (p.Ser1229=)
c.3513A>G (p.Ser1171=)
c.3399A>G (p.Ser1133=)
n.3810A>G
n.3699A>G
5g.150393461A>TCA447158056TCOF1c.3576A>T (p.Ser1192=)
c.3693A>T (p.Ser1231=)
c.3348A>T (p.Ser1116=)
c.3092A>T
c.3459A>T (p.Ser1153=)
c.3690A>T (p.Ser1230=)
c.3579A>T (p.Ser1193=)
c.3462A>T (p.Ser1154=)
n.3740A>T
c.343-3282A>T (n.343-3282A>T)
c.3804A>T (p.Ser1268=)
c.3801A>T (p.Ser1267=)
c.3573A>T (p.Ser1191=)
c.3624A>T (p.Ser1208=)
n.3808A>T
n.3697A>T
c.3687A>T (p.Ser1229=)
c.3513A>T (p.Ser1171=)
c.3399A>T (p.Ser1133=)
n.3810A>T
n.3699A>T
5g.150393462G>ACA129107257TCOF1c.3577G>A (p.Val1193Ile)
c.3694G>A (p.Val1232Ile)
c.3349G>A (p.Val1117Ile)
c.3093G>A
c.3460G>A (p.Val1154Ile)
c.3691G>A (p.Val1231Ile)
c.3580G>A (p.Val1194Ile)
c.3463G>A (p.Val1155Ile)
n.3741G>A
c.343-3281G>A (n.343-3281G>A)
c.3805G>A (p.Val1269Ile)
c.3802G>A (p.Val1268Ile)
c.3574G>A (p.Val1192Ile)
c.3625G>A (p.Val1209Ile)
n.3809G>A
n.3698G>A
c.3688G>A (p.Val1230Ile)
c.3514G>A (p.Val1172Ile)
c.3400G>A (p.Val1134Ile)
n.3811G>A
n.3700G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.150393462G>CCA361739535TCOF1c.3577G>C (p.Val1193Leu)
c.3694G>C (p.Val1232Leu)
c.3349G>C (p.Val1117Leu)
c.3093G>C
c.3460G>C (p.Val1154Leu)
c.3691G>C (p.Val1231Leu)
c.3580G>C (p.Val1194Leu)
c.3463G>C (p.Val1155Leu)
n.3741G>C
c.343-3281G>C (n.343-3281G>C)
c.3805G>C (p.Val1269Leu)
c.3802G>C (p.Val1268Leu)
c.3574G>C (p.Val1192Leu)
c.3625G>C (p.Val1209Leu)
n.3809G>C
n.3698G>C
c.3688G>C (p.Val1230Leu)
c.3514G>C (p.Val1172Leu)
c.3400G>C (p.Val1134Leu)
n.3811G>C
n.3700G>C
5g.150393462G=CA1590926004TCOF1c.3577G= (p.Val1193=)
c.3694G= (p.Val1232=)
c.3349G= (p.Val1117=)
c.3093G=
c.3460G= (p.Val1154=)
c.3691G= (p.Val1231=)
c.3580G= (p.Val1194=)
c.3463G= (p.Val1155=)
n.3741G=
c.343-3281G= (n.343-3281G=)
c.3805G= (p.Val1269=)
c.3802G= (p.Val1268=)
c.3574G= (p.Val1192=)
c.3625G= (p.Val1209=)
n.3809G=
n.3698G=
c.3688G= (p.Val1230=)
c.3514G= (p.Val1172=)
c.3400G= (p.Val1134=)
n.3811G=
n.3700G=
5g.150393462G>TCA361739534TCOF1c.3577G>T (p.Val1193Phe)
c.3694G>T (p.Val1232Phe)
c.3349G>T (p.Val1117Phe)
c.3093G>T
c.3460G>T (p.Val1154Phe)
c.3691G>T (p.Val1231Phe)
c.3580G>T (p.Val1194Phe)
c.3463G>T (p.Val1155Phe)
n.3741G>T
c.343-3281G>T (n.343-3281G>T)
c.3805G>T (p.Val1269Phe)
c.3802G>T (p.Val1268Phe)
c.3574G>T (p.Val1192Phe)
c.3625G>T (p.Val1209Phe)
n.3809G>T
n.3698G>T
c.3688G>T (p.Val1230Phe)
c.3514G>T (p.Val1172Phe)
c.3400G>T (p.Val1134Phe)
n.3811G>T
n.3700G>T
5g.150393463T>ACA361739538TCOF1c.3578T>A (p.Val1193Asp)
c.3695T>A (p.Val1232Asp)
c.3350T>A (p.Val1117Asp)
c.3094T>A
c.3461T>A (p.Val1154Asp)
c.3692T>A (p.Val1231Asp)
c.3581T>A (p.Val1194Asp)
c.3464T>A (p.Val1155Asp)
n.3742T>A
c.343-3280T>A (n.343-3280T>A)
c.3806T>A (p.Val1269Asp)
c.3803T>A (p.Val1268Asp)
c.3575T>A (p.Val1192Asp)
c.3626T>A (p.Val1209Asp)
n.3810T>A
n.3699T>A
c.3689T>A (p.Val1230Asp)
c.3515T>A (p.Val1172Asp)
c.3401T>A (p.Val1134Asp)
n.3812T>A
n.3701T>A
5g.150393463T>CCA361739541TCOF1c.3578T>C (p.Val1193Ala)
c.3695T>C (p.Val1232Ala)
c.3350T>C (p.Val1117Ala)
c.3094T>C
c.3461T>C (p.Val1154Ala)
c.3692T>C (p.Val1231Ala)
c.3581T>C (p.Val1194Ala)
c.3464T>C (p.Val1155Ala)
n.3742T>C
c.343-3280T>C (n.343-3280T>C)
c.3806T>C (p.Val1269Ala)
c.3803T>C (p.Val1268Ala)
c.3575T>C (p.Val1192Ala)
c.3626T>C (p.Val1209Ala)
n.3810T>C
n.3699T>C
c.3689T>C (p.Val1230Ala)
c.3515T>C (p.Val1172Ala)
c.3401T>C (p.Val1134Ala)
n.3812T>C
n.3701T>C
5g.150393463T>GCA361739544TCOF1c.3578T>G (p.Val1193Gly)
c.3695T>G (p.Val1232Gly)
c.3350T>G (p.Val1117Gly)
c.3094T>G
c.3461T>G (p.Val1154Gly)
c.3692T>G (p.Val1231Gly)
c.3581T>G (p.Val1194Gly)
c.3464T>G (p.Val1155Gly)
n.3742T>G
c.343-3280T>G (n.343-3280T>G)
c.3806T>G (p.Val1269Gly)
c.3803T>G (p.Val1268Gly)
c.3575T>G (p.Val1192Gly)
c.3626T>G (p.Val1209Gly)
n.3810T>G
n.3699T>G
c.3689T>G (p.Val1230Gly)
c.3515T>G (p.Val1172Gly)
c.3401T>G (p.Val1134Gly)
n.3812T>G
n.3701T>G
5g.150393464T>ACA447158065TCOF1c.3579T>A (p.Val1193=)
c.3696T>A (p.Val1232=)
c.3351T>A (p.Val1117=)
c.3095T>A
c.3462T>A (p.Val1154=)
c.3693T>A (p.Val1231=)
c.3582T>A (p.Val1194=)
c.3465T>A (p.Val1155=)
n.3743T>A
c.343-3279T>A (n.343-3279T>A)
c.3807T>A (p.Val1269=)
c.3804T>A (p.Val1268=)
c.3576T>A (p.Val1192=)
c.3627T>A (p.Val1209=)
n.3811T>A
n.3700T>A
c.3690T>A (p.Val1230=)
c.3516T>A (p.Val1172=)
c.3402T>A (p.Val1134=)
n.3813T>A
n.3702T>A
5g.150393464T>CCA447158069TCOF1c.3579T>C (p.Val1193=)
c.3696T>C (p.Val1232=)
c.3351T>C (p.Val1117=)
c.3095T>C
c.3462T>C (p.Val1154=)
c.3693T>C (p.Val1231=)
c.3582T>C (p.Val1194=)
c.3465T>C (p.Val1155=)
n.3743T>C
c.343-3279T>C (n.343-3279T>C)
c.3807T>C (p.Val1269=)
c.3804T>C (p.Val1268=)
c.3576T>C (p.Val1192=)
c.3627T>C (p.Val1209=)
n.3811T>C
n.3700T>C
c.3690T>C (p.Val1230=)
c.3516T>C (p.Val1172=)
c.3402T>C (p.Val1134=)
n.3813T>C
n.3702T>C
 gnomAD v4
5g.150393464T>GCA447158067TCOF1c.3579T>G (p.Val1193=)
c.3696T>G (p.Val1232=)
c.3351T>G (p.Val1117=)
c.3095T>G
c.3462T>G (p.Val1154=)
c.3693T>G (p.Val1231=)
c.3582T>G (p.Val1194=)
c.3465T>G (p.Val1155=)
n.3743T>G
c.343-3279T>G (n.343-3279T>G)
c.3807T>G (p.Val1269=)
c.3804T>G (p.Val1268=)
c.3576T>G (p.Val1192=)
c.3627T>G (p.Val1209=)
n.3811T>G
n.3700T>G
c.3690T>G (p.Val1230=)
c.3516T>G (p.Val1172=)
c.3402T>G (p.Val1134=)
n.3813T>G
n.3702T>G
5g.150393465T>ACA361739547TCOF1c.3580T>A (p.Ser1194Thr)
c.3697T>A (p.Ser1233Thr)
c.3352T>A (p.Ser1118Thr)
c.3096T>A
c.3463T>A (p.Ser1155Thr)
c.3694T>A (p.Ser1232Thr)
c.3583T>A (p.Ser1195Thr)
c.3466T>A (p.Ser1156Thr)
n.3744T>A
c.343-3278T>A (n.343-3278T>A)
c.3808T>A (p.Ser1270Thr)
c.3805T>A (p.Ser1269Thr)
c.3577T>A (p.Ser1193Thr)
c.3628T>A (p.Ser1210Thr)
n.3812T>A
n.3701T>A
c.3691T>A (p.Ser1231Thr)
c.3517T>A (p.Ser1173Thr)
c.3403T>A (p.Ser1135Thr)
n.3814T>A
n.3703T>A
5g.150393465T>CCA361739548TCOF1c.3580T>C (p.Ser1194Pro)
c.3697T>C (p.Ser1233Pro)
c.3352T>C (p.Ser1118Pro)
c.3096T>C
c.3463T>C (p.Ser1155Pro)
c.3694T>C (p.Ser1232Pro)
c.3583T>C (p.Ser1195Pro)
c.3466T>C (p.Ser1156Pro)
n.3744T>C
c.343-3278T>C (n.343-3278T>C)
c.3808T>C (p.Ser1270Pro)
c.3805T>C (p.Ser1269Pro)
c.3577T>C (p.Ser1193Pro)
c.3628T>C (p.Ser1210Pro)
n.3812T>C
n.3701T>C
c.3691T>C (p.Ser1231Pro)
c.3517T>C (p.Ser1173Pro)
c.3403T>C (p.Ser1135Pro)
n.3814T>C
n.3703T>C
5g.150393465T>GCA361739550TCOF1c.3580T>G (p.Ser1194Ala)
c.3697T>G (p.Ser1233Ala)
c.3352T>G (p.Ser1118Ala)
c.3096T>G
c.3463T>G (p.Ser1155Ala)
c.3694T>G (p.Ser1232Ala)
c.3583T>G (p.Ser1195Ala)
c.3466T>G (p.Ser1156Ala)
n.3744T>G
c.343-3278T>G (n.343-3278T>G)
c.3808T>G (p.Ser1270Ala)
c.3805T>G (p.Ser1269Ala)
c.3577T>G (p.Ser1193Ala)
c.3628T>G (p.Ser1210Ala)
n.3812T>G
n.3701T>G
c.3691T>G (p.Ser1231Ala)
c.3517T>G (p.Ser1173Ala)
c.3403T>G (p.Ser1135Ala)
n.3814T>G
n.3703T>G
5g.150393466_150393470delCA2499217737TCOF1c.3581_3585del (p.Ser1194TyrfsTer7)
c.3698_3702del (p.Ser1233TyrfsTer7)
c.3353_3357del (p.Ser1118TyrfsTer7)
c.3097_3101del
c.3464_3468del (p.Ser1155TyrfsTer7)
c.3695_3699del (p.Ser1232TyrfsTer7)
c.3584_3588del (p.Ser1195TyrfsTer7)
c.3467_3471del (p.Ser1156TyrfsTer7)
n.3745_3749del
c.343-3277_343-3273del (n.343-3277_343-3273del)
c.3809_3813del (p.Ser1270TyrfsTer7)
c.3806_3810del (p.Ser1269TyrfsTer7)
c.3578_3582del (p.Ser1193TyrfsTer7)
c.3629_3633del (p.Ser1210TyrfsTer7)
n.3813_3817del
n.3702_3706del
c.3692_3696del (p.Ser1231TyrfsTer7)
c.3518_3522del (p.Ser1173TyrfsTer7)
c.3404_3408del (p.Ser1135TyrfsTer7)
n.3815_3819del
n.3704_3708del
 ClinVar dbSNP
5g.150393466C>ACA361739565TCOF1c.3581C>A (p.Ser1194Tyr)
c.3698C>A (p.Ser1233Tyr)
c.3353C>A (p.Ser1118Tyr)
c.3097C>A
c.3464C>A (p.Ser1155Tyr)
c.3695C>A (p.Ser1232Tyr)
c.3584C>A (p.Ser1195Tyr)
c.3467C>A (p.Ser1156Tyr)
n.3745C>A
c.343-3277C>A (n.343-3277C>A)
c.3809C>A (p.Ser1270Tyr)
c.3806C>A (p.Ser1269Tyr)
c.3578C>A (p.Ser1193Tyr)
c.3629C>A (p.Ser1210Tyr)
n.3813C>A
n.3702C>A
c.3692C>A (p.Ser1231Tyr)
c.3518C>A (p.Ser1173Tyr)
c.3404C>A (p.Ser1135Tyr)
n.3815C>A
n.3704C>A
5g.150393466C>GCA361739556TCOF1c.3581C>G (p.Ser1194Cys)
c.3698C>G (p.Ser1233Cys)
c.3353C>G (p.Ser1118Cys)
c.3097C>G
c.3464C>G (p.Ser1155Cys)
c.3695C>G (p.Ser1232Cys)
c.3584C>G (p.Ser1195Cys)
c.3467C>G (p.Ser1156Cys)
n.3745C>G
c.343-3277C>G (n.343-3277C>G)
c.3809C>G (p.Ser1270Cys)
c.3806C>G (p.Ser1269Cys)
c.3578C>G (p.Ser1193Cys)
c.3629C>G (p.Ser1210Cys)
n.3813C>G
n.3702C>G
c.3692C>G (p.Ser1231Cys)
c.3518C>G (p.Ser1173Cys)
c.3404C>G (p.Ser1135Cys)
n.3815C>G
n.3704C>G
5g.150393466C>TCA361739553TCOF1c.3581C>T (p.Ser1194Phe)
c.3698C>T (p.Ser1233Phe)
c.3353C>T (p.Ser1118Phe)
c.3097C>T
c.3464C>T (p.Ser1155Phe)
c.3695C>T (p.Ser1232Phe)
c.3584C>T (p.Ser1195Phe)
c.3467C>T (p.Ser1156Phe)
n.3745C>T
c.343-3277C>T (n.343-3277C>T)
c.3809C>T (p.Ser1270Phe)
c.3806C>T (p.Ser1269Phe)
c.3578C>T (p.Ser1193Phe)
c.3629C>T (p.Ser1210Phe)
n.3813C>T
n.3702C>T
c.3692C>T (p.Ser1231Phe)
c.3518C>T (p.Ser1173Phe)
c.3404C>T (p.Ser1135Phe)
n.3815C>T
n.3704C>T
 gnomAD v4
5g.150393467C>ACA447158075TCOF1c.3582C>A (p.Ser1194=)
c.3699C>A (p.Ser1233=)
c.3354C>A (p.Ser1118=)
c.3098C>A
c.3465C>A (p.Ser1155=)
c.3696C>A (p.Ser1232=)
c.3585C>A (p.Ser1195=)
c.3468C>A (p.Ser1156=)
n.3746C>A
c.343-3276C>A (n.343-3276C>A)
c.3810C>A (p.Ser1270=)
c.3807C>A (p.Ser1269=)
c.3579C>A (p.Ser1193=)
c.3630C>A (p.Ser1210=)
n.3814C>A
n.3703C>A
c.3693C>A (p.Ser1231=)
c.3519C>A (p.Ser1173=)
c.3405C>A (p.Ser1135=)
n.3816C>A
n.3705C>A
5g.150393467C=CA1590926005TCOF1c.3582C= (p.Ser1194=)
c.3699C= (p.Ser1233=)
c.3354C= (p.Ser1118=)
c.3098C=
c.3465C= (p.Ser1155=)
c.3696C= (p.Ser1232=)
c.3585C= (p.Ser1195=)
c.3468C= (p.Ser1156=)
n.3746C=
c.343-3276C= (n.343-3276C=)
c.3810C= (p.Ser1270=)
c.3807C= (p.Ser1269=)
c.3579C= (p.Ser1193=)
c.3630C= (p.Ser1210=)
n.3814C=
n.3703C=
c.3693C= (p.Ser1231=)
c.3519C= (p.Ser1173=)
c.3405C= (p.Ser1135=)
n.3816C=
n.3705C=
5g.150393467C>GCA447158077TCOF1c.3582C>G (p.Ser1194=)
c.3699C>G (p.Ser1233=)
c.3354C>G (p.Ser1118=)
c.3098C>G
c.3465C>G (p.Ser1155=)
c.3696C>G (p.Ser1232=)
c.3585C>G (p.Ser1195=)
c.3468C>G (p.Ser1156=)
n.3746C>G
c.343-3276C>G (n.343-3276C>G)
c.3810C>G (p.Ser1270=)
c.3807C>G (p.Ser1269=)
c.3579C>G (p.Ser1193=)
c.3630C>G (p.Ser1210=)
n.3814C>G
n.3703C>G
c.3693C>G (p.Ser1231=)
c.3519C>G (p.Ser1173=)
c.3405C>G (p.Ser1135=)
n.3816C>G
n.3705C>G
 dbSNP gnomAD v4
5g.150393467C>TCA447158078TCOF1c.3582C>T (p.Ser1194=)
c.3699C>T (p.Ser1233=)
c.3354C>T (p.Ser1118=)
c.3098C>T
c.3465C>T (p.Ser1155=)
c.3696C>T (p.Ser1232=)
c.3585C>T (p.Ser1195=)
c.3468C>T (p.Ser1156=)
n.3746C>T
c.343-3276C>T (n.343-3276C>T)
c.3810C>T (p.Ser1270=)
c.3807C>T (p.Ser1269=)
c.3579C>T (p.Ser1193=)
c.3630C>T (p.Ser1210=)
n.3814C>T
n.3703C>T
c.3693C>T (p.Ser1231=)
c.3519C>T (p.Ser1173=)
c.3405C>T (p.Ser1135=)
n.3816C>T
n.3705C>T
 gnomAD v4
5g.150393471_150393475delCA2695205535TCOF1c.3586_3590del (p.Thr1196GlyfsTer5)
c.3703_3707del (p.Thr1235GlyfsTer5)
c.3358_3362del (p.Thr1120GlyfsTer5)
c.3102_3106del
c.3469_3473del (p.Thr1157GlyfsTer5)
c.3700_3704del (p.Thr1234GlyfsTer5)
c.3589_3593del (p.Thr1197GlyfsTer5)
c.3472_3476del (p.Thr1158GlyfsTer5)
n.3750_3754del
c.343-3272_343-3268del (n.343-3272_343-3268del)
c.3814_3818del (p.Thr1272GlyfsTer5)
c.3811_3815del (p.Thr1271GlyfsTer5)
c.3583_3587del (p.Thr1195GlyfsTer5)
c.3634_3638del (p.Thr1212GlyfsTer5)
n.3818_3822del
n.3707_3711del
c.3697_3701del (p.Thr1233GlyfsTer5)
c.3523_3527del (p.Thr1175GlyfsTer5)
c.3409_3413del (p.Thr1137GlyfsTer5)
n.3820_3824del
n.3709_3713del
5g.150393468T>ACA361739567TCOF1c.3583T>A (p.Ser1195Thr)
c.3700T>A (p.Ser1234Thr)
c.3355T>A (p.Ser1119Thr)
c.3099T>A
c.3466T>A (p.Ser1156Thr)
c.3697T>A (p.Ser1233Thr)
c.3586T>A (p.Ser1196Thr)
c.3469T>A (p.Ser1157Thr)
n.3747T>A
c.343-3275T>A (n.343-3275T>A)
c.3811T>A (p.Ser1271Thr)
c.3808T>A (p.Ser1270Thr)
c.3580T>A (p.Ser1194Thr)
c.3631T>A (p.Ser1211Thr)
n.3815T>A
n.3704T>A
c.3694T>A (p.Ser1232Thr)
c.3520T>A (p.Ser1174Thr)
c.3406T>A (p.Ser1136Thr)
n.3817T>A
n.3706T>A
5g.150393468T>CCA361739568TCOF1c.3583T>C (p.Ser1195Pro)
c.3700T>C (p.Ser1234Pro)
c.3355T>C (p.Ser1119Pro)
c.3099T>C
c.3466T>C (p.Ser1156Pro)
c.3697T>C (p.Ser1233Pro)
c.3586T>C (p.Ser1196Pro)
c.3469T>C (p.Ser1157Pro)
n.3747T>C
c.343-3275T>C (n.343-3275T>C)
c.3811T>C (p.Ser1271Pro)
c.3808T>C (p.Ser1270Pro)
c.3580T>C (p.Ser1194Pro)
c.3631T>C (p.Ser1211Pro)
n.3815T>C
n.3704T>C
c.3694T>C (p.Ser1232Pro)
c.3520T>C (p.Ser1174Pro)
c.3406T>C (p.Ser1136Pro)
n.3817T>C
n.3706T>C
 gnomAD v4
5g.150393468T>GCA361739569TCOF1c.3583T>G (p.Ser1195Ala)
c.3700T>G (p.Ser1234Ala)
c.3355T>G (p.Ser1119Ala)
c.3099T>G
c.3466T>G (p.Ser1156Ala)
c.3697T>G (p.Ser1233Ala)
c.3586T>G (p.Ser1196Ala)
c.3469T>G (p.Ser1157Ala)
n.3747T>G
c.343-3275T>G (n.343-3275T>G)
c.3811T>G (p.Ser1271Ala)
c.3808T>G (p.Ser1270Ala)
c.3580T>G (p.Ser1194Ala)
c.3631T>G (p.Ser1211Ala)
n.3815T>G
n.3704T>G
c.3694T>G (p.Ser1232Ala)
c.3520T>G (p.Ser1174Ala)
c.3406T>G (p.Ser1136Ala)
n.3817T>G
n.3706T>G
5g.150393469C>ACA361739570TCOF1c.3584C>A (p.Ser1195Tyr)
c.3701C>A (p.Ser1234Tyr)
c.3356C>A (p.Ser1119Tyr)
c.3100C>A
c.3467C>A (p.Ser1156Tyr)
c.3698C>A (p.Ser1233Tyr)
c.3587C>A (p.Ser1196Tyr)
c.3470C>A (p.Ser1157Tyr)
n.3748C>A
c.343-3274C>A (n.343-3274C>A)
c.3812C>A (p.Ser1271Tyr)
c.3809C>A (p.Ser1270Tyr)
c.3581C>A (p.Ser1194Tyr)
c.3632C>A (p.Ser1211Tyr)
n.3816C>A
n.3705C>A
c.3695C>A (p.Ser1232Tyr)
c.3521C>A (p.Ser1174Tyr)
c.3407C>A (p.Ser1136Tyr)
n.3818C>A
n.3707C>A
5g.150393469C>GCA361739572TCOF1c.3584C>G (p.Ser1195Cys)
c.3701C>G (p.Ser1234Cys)
c.3356C>G (p.Ser1119Cys)
c.3100C>G
c.3467C>G (p.Ser1156Cys)
c.3698C>G (p.Ser1233Cys)
c.3587C>G (p.Ser1196Cys)
c.3470C>G (p.Ser1157Cys)
n.3748C>G
c.343-3274C>G (n.343-3274C>G)
c.3812C>G (p.Ser1271Cys)
c.3809C>G (p.Ser1270Cys)
c.3581C>G (p.Ser1194Cys)
c.3632C>G (p.Ser1211Cys)
n.3816C>G
n.3705C>G
c.3695C>G (p.Ser1232Cys)
c.3521C>G (p.Ser1174Cys)
c.3407C>G (p.Ser1136Cys)
n.3818C>G
n.3707C>G
 gnomAD v4
5g.150393469C>TCA361739574TCOF1c.3584C>T (p.Ser1195Phe)
c.3701C>T (p.Ser1234Phe)
c.3356C>T (p.Ser1119Phe)
c.3100C>T
c.3467C>T (p.Ser1156Phe)
c.3698C>T (p.Ser1233Phe)
c.3587C>T (p.Ser1196Phe)
c.3470C>T (p.Ser1157Phe)
n.3748C>T
c.343-3274C>T (n.343-3274C>T)
c.3812C>T (p.Ser1271Phe)
c.3809C>T (p.Ser1270Phe)
c.3581C>T (p.Ser1194Phe)
c.3632C>T (p.Ser1211Phe)
n.3816C>T
n.3705C>T
c.3695C>T (p.Ser1232Phe)
c.3521C>T (p.Ser1174Phe)
c.3407C>T (p.Ser1136Phe)
n.3818C>T
n.3707C>T
5g.150393470T>ACA447158087TCOF1c.3585T>A (p.Ser1195=)
c.3702T>A (p.Ser1234=)
c.3357T>A (p.Ser1119=)
c.3101T>A
c.3468T>A (p.Ser1156=)
c.3699T>A (p.Ser1233=)
c.3588T>A (p.Ser1196=)
c.3471T>A (p.Ser1157=)
n.3749T>A
c.343-3273T>A (n.343-3273T>A)
c.3813T>A (p.Ser1271=)
c.3810T>A (p.Ser1270=)
c.3582T>A (p.Ser1194=)
c.3633T>A (p.Ser1211=)
n.3817T>A
n.3706T>A
c.3696T>A (p.Ser1232=)
c.3522T>A (p.Ser1174=)
c.3408T>A (p.Ser1136=)
n.3819T>A
n.3708T>A
5g.150393470T>CCA447158090TCOF1c.3585T>C (p.Ser1195=)
c.3702T>C (p.Ser1234=)
c.3357T>C (p.Ser1119=)
c.3101T>C
c.3468T>C (p.Ser1156=)
c.3699T>C (p.Ser1233=)
c.3588T>C (p.Ser1196=)
c.3471T>C (p.Ser1157=)
n.3749T>C
c.343-3273T>C (n.343-3273T>C)
c.3813T>C (p.Ser1271=)
c.3810T>C (p.Ser1270=)
c.3582T>C (p.Ser1194=)
c.3633T>C (p.Ser1211=)
n.3817T>C
n.3706T>C
c.3696T>C (p.Ser1232=)
c.3522T>C (p.Ser1174=)
c.3408T>C (p.Ser1136=)
n.3819T>C
n.3708T>C
 dbSNP gnomAD v4
5g.150393470T>GCA447158089TCOF1c.3585T>G (p.Ser1195=)
c.3702T>G (p.Ser1234=)
c.3357T>G (p.Ser1119=)
c.3101T>G
c.3468T>G (p.Ser1156=)
c.3699T>G (p.Ser1233=)
c.3588T>G (p.Ser1196=)
c.3471T>G (p.Ser1157=)
n.3749T>G
c.343-3273T>G (n.343-3273T>G)
c.3813T>G (p.Ser1271=)
c.3810T>G (p.Ser1270=)
c.3582T>G (p.Ser1194=)
c.3633T>G (p.Ser1211=)
n.3817T>G
n.3706T>G
c.3696T>G (p.Ser1232=)
c.3522T>G (p.Ser1174=)
c.3408T>G (p.Ser1136=)
n.3819T>G
n.3708T>G
5g.150393470T=CA1590926006TCOF1c.3585T= (p.Ser1195=)
c.3702T= (p.Ser1234=)
c.3357T= (p.Ser1119=)
c.3101T=
c.3468T= (p.Ser1156=)
c.3699T= (p.Ser1233=)
c.3588T= (p.Ser1196=)
c.3471T= (p.Ser1157=)
n.3749T=
c.343-3273T= (n.343-3273T=)
c.3813T= (p.Ser1271=)
c.3810T= (p.Ser1270=)
c.3582T= (p.Ser1194=)
c.3633T= (p.Ser1211=)
n.3817T=
n.3706T=
c.3696T= (p.Ser1232=)
c.3522T= (p.Ser1174=)
c.3408T= (p.Ser1136=)
n.3819T=
n.3708T=
5g.150393471A=CA1590926007TCOF1c.3586A= (p.Thr1196=)
c.3703A= (p.Thr1235=)
c.3358A= (p.Thr1120=)
c.3102A=
c.3469A= (p.Thr1157=)
c.3700A= (p.Thr1234=)
c.3589A= (p.Thr1197=)
c.3472A= (p.Thr1158=)
n.3750A=
c.343-3272A= (n.343-3272A=)
c.3814A= (p.Thr1272=)
c.3811A= (p.Thr1271=)
c.3583A= (p.Thr1195=)
c.3634A= (p.Thr1212=)
n.3818A=
n.3707A=
c.3697A= (p.Thr1233=)
c.3523A= (p.Thr1175=)
c.3409A= (p.Thr1137=)
n.3820A=
n.3709A=
5g.150393471A>CCA361739576TCOF1c.3586A>C (p.Thr1196Pro)
c.3703A>C (p.Thr1235Pro)
c.3358A>C (p.Thr1120Pro)
c.3102A>C
c.3469A>C (p.Thr1157Pro)
c.3700A>C (p.Thr1234Pro)
c.3589A>C (p.Thr1197Pro)
c.3472A>C (p.Thr1158Pro)
n.3750A>C
c.343-3272A>C (n.343-3272A>C)
c.3814A>C (p.Thr1272Pro)
c.3811A>C (p.Thr1271Pro)
c.3583A>C (p.Thr1195Pro)
c.3634A>C (p.Thr1212Pro)
n.3818A>C
n.3707A>C
c.3697A>C (p.Thr1233Pro)
c.3523A>C (p.Thr1175Pro)
c.3409A>C (p.Thr1137Pro)
n.3820A>C
n.3709A>C
 dbSNP gnomAD v4
5g.150393471A>GCA361739578TCOF1c.3586A>G (p.Thr1196Ala)
c.3703A>G (p.Thr1235Ala)
c.3358A>G (p.Thr1120Ala)
c.3102A>G
c.3469A>G (p.Thr1157Ala)
c.3700A>G (p.Thr1234Ala)
c.3589A>G (p.Thr1197Ala)
c.3472A>G (p.Thr1158Ala)
n.3750A>G
c.343-3272A>G (n.343-3272A>G)
c.3814A>G (p.Thr1272Ala)
c.3811A>G (p.Thr1271Ala)
c.3583A>G (p.Thr1195Ala)
c.3634A>G (p.Thr1212Ala)
n.3818A>G
n.3707A>G
c.3697A>G (p.Thr1233Ala)
c.3523A>G (p.Thr1175Ala)
c.3409A>G (p.Thr1137Ala)
n.3820A>G
n.3709A>G
5g.150393471A>TCA361739577TCOF1c.3586A>T (p.Thr1196Ser)
c.3703A>T (p.Thr1235Ser)
c.3358A>T (p.Thr1120Ser)
c.3102A>T
c.3469A>T (p.Thr1157Ser)
c.3700A>T (p.Thr1234Ser)
c.3589A>T (p.Thr1197Ser)
c.3472A>T (p.Thr1158Ser)
n.3750A>T
c.343-3272A>T (n.343-3272A>T)
c.3814A>T (p.Thr1272Ser)
c.3811A>T (p.Thr1271Ser)
c.3583A>T (p.Thr1195Ser)
c.3634A>T (p.Thr1212Ser)
n.3818A>T
n.3707A>T
c.3697A>T (p.Thr1233Ser)
c.3523A>T (p.Thr1175Ser)
c.3409A>T (p.Thr1137Ser)
n.3820A>T
n.3709A>T
5g.150393472C>ACA361739580TCOF1c.3587C>A (p.Thr1196Asn)
c.3704C>A (p.Thr1235Asn)
c.3359C>A (p.Thr1120Asn)
c.3103C>A
c.3470C>A (p.Thr1157Asn)
c.3701C>A (p.Thr1234Asn)
c.3590C>A (p.Thr1197Asn)
c.3473C>A (p.Thr1158Asn)
n.3751C>A
c.343-3271C>A (n.343-3271C>A)
c.3815C>A (p.Thr1272Asn)
c.3812C>A (p.Thr1271Asn)
c.3584C>A (p.Thr1195Asn)
c.3635C>A (p.Thr1212Asn)
n.3819C>A
n.3708C>A
c.3698C>A (p.Thr1233Asn)
c.3524C>A (p.Thr1175Asn)
c.3410C>A (p.Thr1137Asn)
n.3821C>A
n.3710C>A
5g.150393472C=CA1590926008TCOF1c.3587C= (p.Thr1196=)
c.3704C= (p.Thr1235=)
c.3359C= (p.Thr1120=)
c.3103C=
c.3470C= (p.Thr1157=)
c.3701C= (p.Thr1234=)
c.3590C= (p.Thr1197=)
c.3473C= (p.Thr1158=)
n.3751C=
c.343-3271C= (n.343-3271C=)
c.3815C= (p.Thr1272=)
c.3812C= (p.Thr1271=)
c.3584C= (p.Thr1195=)
c.3635C= (p.Thr1212=)
n.3819C=
n.3708C=
c.3698C= (p.Thr1233=)
c.3524C= (p.Thr1175=)
c.3410C= (p.Thr1137=)
n.3821C=
n.3710C=
5g.150393472C>GCA361739585TCOF1c.3587C>G (p.Thr1196Ser)
c.3704C>G (p.Thr1235Ser)
c.3359C>G (p.Thr1120Ser)
c.3103C>G
c.3470C>G (p.Thr1157Ser)
c.3701C>G (p.Thr1234Ser)
c.3590C>G (p.Thr1197Ser)
c.3473C>G (p.Thr1158Ser)
n.3751C>G
c.343-3271C>G (n.343-3271C>G)
c.3815C>G (p.Thr1272Ser)
c.3812C>G (p.Thr1271Ser)
c.3584C>G (p.Thr1195Ser)
c.3635C>G (p.Thr1212Ser)
n.3819C>G
n.3708C>G
c.3698C>G (p.Thr1233Ser)
c.3524C>G (p.Thr1175Ser)
c.3410C>G (p.Thr1137Ser)
n.3821C>G
n.3710C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.150393472C>TCA361739586TCOF1c.3587C>T (p.Thr1196Ile)
c.3704C>T (p.Thr1235Ile)
c.3359C>T (p.Thr1120Ile)
c.3103C>T
c.3470C>T (p.Thr1157Ile)
c.3701C>T (p.Thr1234Ile)
c.3590C>T (p.Thr1197Ile)
c.3473C>T (p.Thr1158Ile)
n.3751C>T
c.343-3271C>T (n.343-3271C>T)
c.3815C>T (p.Thr1272Ile)
c.3812C>T (p.Thr1271Ile)
c.3584C>T (p.Thr1195Ile)
c.3635C>T (p.Thr1212Ile)
n.3819C>T
n.3708C>T
c.3698C>T (p.Thr1233Ile)
c.3524C>T (p.Thr1175Ile)
c.3410C>T (p.Thr1137Ile)
n.3821C>T
n.3710C>T
5g.150393473T>ACA447158099TCOF1c.3588T>A (p.Thr1196=)
c.3705T>A (p.Thr1235=)
c.3360T>A (p.Thr1120=)
c.3104T>A
c.3471T>A (p.Thr1157=)
c.3702T>A (p.Thr1234=)
c.3591T>A (p.Thr1197=)
c.3474T>A (p.Thr1158=)
n.3752T>A
c.343-3270T>A (n.343-3270T>A)
c.3816T>A (p.Thr1272=)
c.3813T>A (p.Thr1271=)
c.3585T>A (p.Thr1195=)
c.3636T>A (p.Thr1212=)
n.3820T>A
n.3709T>A
c.3699T>A (p.Thr1233=)
c.3525T>A (p.Thr1175=)
c.3411T>A (p.Thr1137=)
n.3822T>A
n.3711T>A
5g.150393473T>CCA447158100TCOF1c.3588T>C (p.Thr1196=)
c.3705T>C (p.Thr1235=)
c.3360T>C (p.Thr1120=)
c.3104T>C
c.3471T>C (p.Thr1157=)
c.3702T>C (p.Thr1234=)
c.3591T>C (p.Thr1197=)
c.3474T>C (p.Thr1158=)
n.3752T>C
c.343-3270T>C (n.343-3270T>C)
c.3816T>C (p.Thr1272=)
c.3813T>C (p.Thr1271=)
c.3585T>C (p.Thr1195=)
c.3636T>C (p.Thr1212=)
n.3820T>C
n.3709T>C
c.3699T>C (p.Thr1233=)
c.3525T>C (p.Thr1175=)
c.3411T>C (p.Thr1137=)
n.3822T>C
n.3711T>C
 gnomAD v4
5g.150393473T>GCA447158102TCOF1c.3588T>G (p.Thr1196=)
c.3705T>G (p.Thr1235=)
c.3360T>G (p.Thr1120=)
c.3104T>G
c.3471T>G (p.Thr1157=)
c.3702T>G (p.Thr1234=)
c.3591T>G (p.Thr1197=)
c.3474T>G (p.Thr1158=)
n.3752T>G
c.343-3270T>G (n.343-3270T>G)
c.3816T>G (p.Thr1272=)
c.3813T>G (p.Thr1271=)
c.3585T>G (p.Thr1195=)
c.3636T>G (p.Thr1212=)
n.3820T>G
n.3709T>G
c.3699T>G (p.Thr1233=)
c.3525T>G (p.Thr1175=)
c.3411T>G (p.Thr1137=)
n.3822T>G
n.3711T>G
 gnomAD v4
5g.150393474C>ACA361739588TCOF1c.3589C>A (p.Leu1197Met)
c.3706C>A (p.Leu1236Met)
c.3361C>A (p.Leu1121Met)
c.3105C>A
c.3472C>A (p.Leu1158Met)
c.3703C>A (p.Leu1235Met)
c.3592C>A (p.Leu1198Met)
c.3475C>A (p.Leu1159Met)
n.3753C>A
c.343-3269C>A (n.343-3269C>A)
c.3817C>A (p.Leu1273Met)
c.3814C>A (p.Leu1272Met)
c.3586C>A (p.Leu1196Met)
c.3637C>A (p.Leu1213Met)
n.3821C>A
n.3710C>A
c.3700C>A (p.Leu1234Met)
c.3526C>A (p.Leu1176Met)
c.3412C>A (p.Leu1138Met)
n.3823C>A
n.3712C>A
5g.150393474C>GCA361739590TCOF1c.3589C>G (p.Leu1197Val)
c.3706C>G (p.Leu1236Val)
c.3361C>G (p.Leu1121Val)
c.3105C>G
c.3472C>G (p.Leu1158Val)
c.3703C>G (p.Leu1235Val)
c.3592C>G (p.Leu1198Val)
c.3475C>G (p.Leu1159Val)
n.3753C>G
c.343-3269C>G (n.343-3269C>G)
c.3817C>G (p.Leu1273Val)
c.3814C>G (p.Leu1272Val)
c.3586C>G (p.Leu1196Val)
c.3637C>G (p.Leu1213Val)
n.3821C>G
n.3710C>G
c.3700C>G (p.Leu1234Val)
c.3526C>G (p.Leu1176Val)
c.3412C>G (p.Leu1138Val)
n.3823C>G
n.3712C>G
5g.150393474C>TCA447158105TCOF1c.3589C>T (p.Leu1197=)
c.3706C>T (p.Leu1236=)
c.3361C>T (p.Leu1121=)
c.3105C>T
c.3472C>T (p.Leu1158=)
c.3703C>T (p.Leu1235=)
c.3592C>T (p.Leu1198=)
c.3475C>T (p.Leu1159=)
n.3753C>T
c.343-3269C>T (n.343-3269C>T)
c.3817C>T (p.Leu1273=)
c.3814C>T (p.Leu1272=)
c.3586C>T (p.Leu1196=)
c.3637C>T (p.Leu1213=)
n.3821C>T
n.3710C>T
c.3700C>T (p.Leu1234=)
c.3526C>T (p.Leu1176=)
c.3412C>T (p.Leu1138=)
n.3823C>T
n.3712C>T
5g.150393475T>ACA361739595TCOF1c.3590T>A (p.Leu1197Gln)
c.3707T>A (p.Leu1236Gln)
c.3362T>A (p.Leu1121Gln)
c.3106T>A
c.3473T>A (p.Leu1158Gln)
c.3704T>A (p.Leu1235Gln)
c.3593T>A (p.Leu1198Gln)
c.3476T>A (p.Leu1159Gln)
n.3754T>A
c.343-3268T>A (n.343-3268T>A)
c.3818T>A (p.Leu1273Gln)
c.3815T>A (p.Leu1272Gln)
c.3587T>A (p.Leu1196Gln)
c.3638T>A (p.Leu1213Gln)
n.3822T>A
n.3711T>A
c.3701T>A (p.Leu1234Gln)
c.3527T>A (p.Leu1176Gln)
c.3413T>A (p.Leu1138Gln)
n.3824T>A
n.3713T>A
5g.150393475T>CCA3511578TCOF1c.3590T>C (p.Leu1197Pro)
c.3707T>C (p.Leu1236Pro)
c.3362T>C (p.Leu1121Pro)
c.3106T>C
c.3473T>C (p.Leu1158Pro)
c.3704T>C (p.Leu1235Pro)
c.3593T>C (p.Leu1198Pro)
c.3476T>C (p.Leu1159Pro)
n.3754T>C
c.343-3268T>C (n.343-3268T>C)
c.3818T>C (p.Leu1273Pro)
c.3815T>C (p.Leu1272Pro)
c.3587T>C (p.Leu1196Pro)
c.3638T>C (p.Leu1213Pro)
n.3822T>C
n.3711T>C
c.3701T>C (p.Leu1234Pro)
c.3527T>C (p.Leu1176Pro)
c.3413T>C (p.Leu1138Pro)
n.3824T>C
n.3713T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393475T>GCA361739600TCOF1c.3590T>G (p.Leu1197Arg)
c.3707T>G (p.Leu1236Arg)
c.3362T>G (p.Leu1121Arg)
c.3106T>G
c.3473T>G (p.Leu1158Arg)
c.3704T>G (p.Leu1235Arg)
c.3593T>G (p.Leu1198Arg)
c.3476T>G (p.Leu1159Arg)
n.3754T>G
c.343-3268T>G (n.343-3268T>G)
c.3818T>G (p.Leu1273Arg)
c.3815T>G (p.Leu1272Arg)
c.3587T>G (p.Leu1196Arg)
c.3638T>G (p.Leu1213Arg)
n.3822T>G
n.3711T>G
c.3701T>G (p.Leu1234Arg)
c.3527T>G (p.Leu1176Arg)
c.3413T>G (p.Leu1138Arg)
n.3824T>G
n.3713T>G
5g.150393475T=CA1590926009TCOF1c.3590T= (p.Leu1197=)
c.3707T= (p.Leu1236=)
c.3362T= (p.Leu1121=)
c.3106T=
c.3473T= (p.Leu1158=)
c.3704T= (p.Leu1235=)
c.3593T= (p.Leu1198=)
c.3476T= (p.Leu1159=)
n.3754T=
c.343-3268T= (n.343-3268T=)
c.3818T= (p.Leu1273=)
c.3815T= (p.Leu1272=)
c.3587T= (p.Leu1196=)
c.3638T= (p.Leu1213=)
n.3822T=
n.3711T=
c.3701T= (p.Leu1234=)
c.3527T= (p.Leu1176=)
c.3413T= (p.Leu1138=)
n.3824T=
n.3713T=
5g.150393476G>ACA447158112TCOF1c.3591G>A (p.Leu1197=)
c.3708G>A (p.Leu1236=)
c.3363G>A (p.Leu1121=)
c.3107G>A
c.3474G>A (p.Leu1158=)
c.3705G>A (p.Leu1235=)
c.3594G>A (p.Leu1198=)
c.3477G>A (p.Leu1159=)
n.3755G>A
c.343-3267G>A (n.343-3267G>A)
c.3819G>A (p.Leu1273=)
c.3816G>A (p.Leu1272=)
c.3588G>A (p.Leu1196=)
c.3639G>A (p.Leu1213=)
n.3823G>A
n.3712G>A
c.3702G>A (p.Leu1234=)
c.3528G>A (p.Leu1176=)
c.3414G>A (p.Leu1138=)
n.3825G>A
n.3714G>A
5g.150393476G>CCA447158114TCOF1c.3591G>C (p.Leu1197=)
c.3708G>C (p.Leu1236=)
c.3363G>C (p.Leu1121=)
c.3107G>C
c.3474G>C (p.Leu1158=)
c.3705G>C (p.Leu1235=)
c.3594G>C (p.Leu1198=)
c.3477G>C (p.Leu1159=)
n.3755G>C
c.343-3267G>C (n.343-3267G>C)
c.3819G>C (p.Leu1273=)
c.3816G>C (p.Leu1272=)
c.3588G>C (p.Leu1196=)
c.3639G>C (p.Leu1213=)
n.3823G>C
n.3712G>C
c.3702G>C (p.Leu1234=)
c.3528G>C (p.Leu1176=)
c.3414G>C (p.Leu1138=)
n.3825G>C
n.3714G>C
 gnomAD v4
5g.150393476G>TCA447158115TCOF1c.3591G>T (p.Leu1197=)
c.3708G>T (p.Leu1236=)
c.3363G>T (p.Leu1121=)
c.3107G>T
c.3474G>T (p.Leu1158=)
c.3705G>T (p.Leu1235=)
c.3594G>T (p.Leu1198=)
c.3477G>T (p.Leu1159=)
n.3755G>T
c.343-3267G>T (n.343-3267G>T)
c.3819G>T (p.Leu1273=)
c.3816G>T (p.Leu1272=)
c.3588G>T (p.Leu1196=)
c.3639G>T (p.Leu1213=)
n.3823G>T
n.3712G>T
c.3702G>T (p.Leu1234=)
c.3528G>T (p.Leu1176=)
c.3414G>T (p.Leu1138=)
n.3825G>T
n.3714G>T
 COSMIC COSMIC
5g.150393477G>ACA361739601TCOF1c.3592G>A (p.Ala1198Thr)
c.3709G>A (p.Ala1237Thr)
c.3364G>A (p.Ala1122Thr)
c.3108G>A
c.3475G>A (p.Ala1159Thr)
c.3706G>A (p.Ala1236Thr)
c.3595G>A (p.Ala1199Thr)
c.3478G>A (p.Ala1160Thr)
n.3756G>A
c.343-3266G>A (n.343-3266G>A)
c.3820G>A (p.Ala1274Thr)
c.3817G>A (p.Ala1273Thr)
c.3589G>A (p.Ala1197Thr)
c.3640G>A (p.Ala1214Thr)
n.3824G>A
n.3713G>A
c.3703G>A (p.Ala1235Thr)
c.3529G>A (p.Ala1177Thr)
c.3415G>A (p.Ala1139Thr)
n.3826G>A
n.3715G>A
5g.150393477G>CCA361739602TCOF1c.3592G>C (p.Ala1198Pro)
c.3709G>C (p.Ala1237Pro)
c.3364G>C (p.Ala1122Pro)
c.3108G>C
c.3475G>C (p.Ala1159Pro)
c.3706G>C (p.Ala1236Pro)
c.3595G>C (p.Ala1199Pro)
c.3478G>C (p.Ala1160Pro)
n.3756G>C
c.343-3266G>C (n.343-3266G>C)
c.3820G>C (p.Ala1274Pro)
c.3817G>C (p.Ala1273Pro)
c.3589G>C (p.Ala1197Pro)
c.3640G>C (p.Ala1214Pro)
n.3824G>C
n.3713G>C
c.3703G>C (p.Ala1235Pro)
c.3529G>C (p.Ala1177Pro)
c.3415G>C (p.Ala1139Pro)
n.3826G>C
n.3715G>C
5g.150393477G>TCA361739603TCOF1c.3592G>T (p.Ala1198Ser)
c.3709G>T (p.Ala1237Ser)
c.3364G>T (p.Ala1122Ser)
c.3108G>T
c.3475G>T (p.Ala1159Ser)
c.3706G>T (p.Ala1236Ser)
c.3595G>T (p.Ala1199Ser)
c.3478G>T (p.Ala1160Ser)
n.3756G>T
c.343-3266G>T (n.343-3266G>T)
c.3820G>T (p.Ala1274Ser)
c.3817G>T (p.Ala1273Ser)
c.3589G>T (p.Ala1197Ser)
c.3640G>T (p.Ala1214Ser)
n.3824G>T
n.3713G>T
c.3703G>T (p.Ala1235Ser)
c.3529G>T (p.Ala1177Ser)
c.3415G>T (p.Ala1139Ser)
n.3826G>T
n.3715G>T
5g.150393478C>ACA361739605TCOF1c.3593C>A (p.Ala1198Asp)
c.3710C>A (p.Ala1237Asp)
c.3365C>A (p.Ala1122Asp)
c.3109C>A
c.3476C>A (p.Ala1159Asp)
c.3707C>A (p.Ala1236Asp)
c.3596C>A (p.Ala1199Asp)
c.3479C>A (p.Ala1160Asp)
n.3757C>A
c.343-3265C>A (n.343-3265C>A)
c.3821C>A (p.Ala1274Asp)
c.3818C>A (p.Ala1273Asp)
c.3590C>A (p.Ala1197Asp)
c.3641C>A (p.Ala1214Asp)
n.3825C>A
n.3714C>A
c.3704C>A (p.Ala1235Asp)
c.3530C>A (p.Ala1177Asp)
c.3416C>A (p.Ala1139Asp)
n.3827C>A
n.3716C>A
5g.150393478C>GCA361739608TCOF1c.3593C>G (p.Ala1198Gly)
c.3710C>G (p.Ala1237Gly)
c.3365C>G (p.Ala1122Gly)
c.3109C>G
c.3476C>G (p.Ala1159Gly)
c.3707C>G (p.Ala1236Gly)
c.3596C>G (p.Ala1199Gly)
c.3479C>G (p.Ala1160Gly)
n.3757C>G
c.343-3265C>G (n.343-3265C>G)
c.3821C>G (p.Ala1274Gly)
c.3818C>G (p.Ala1273Gly)
c.3590C>G (p.Ala1197Gly)
c.3641C>G (p.Ala1214Gly)
n.3825C>G
n.3714C>G
c.3704C>G (p.Ala1235Gly)
c.3530C>G (p.Ala1177Gly)
c.3416C>G (p.Ala1139Gly)
n.3827C>G
n.3716C>G
5g.150393478C>TCA361739606TCOF1c.3593C>T (p.Ala1198Val)
c.3710C>T (p.Ala1237Val)
c.3365C>T (p.Ala1122Val)
c.3109C>T
c.3476C>T (p.Ala1159Val)
c.3707C>T (p.Ala1236Val)
c.3596C>T (p.Ala1199Val)
c.3479C>T (p.Ala1160Val)
n.3757C>T
c.343-3265C>T (n.343-3265C>T)
c.3821C>T (p.Ala1274Val)
c.3818C>T (p.Ala1273Val)
c.3590C>T (p.Ala1197Val)
c.3641C>T (p.Ala1214Val)
n.3825C>T
n.3714C>T
c.3704C>T (p.Ala1235Val)
c.3530C>T (p.Ala1177Val)
c.3416C>T (p.Ala1139Val)
n.3827C>T
n.3716C>T
 gnomAD v4 COSMIC COSMIC
5g.150393479delCA2580073890TCOF1c.3594del (p.Ala1199ProfsTer?)
c.3711del (p.Ala1238ProfsTer?)
c.3366del (p.Ala1123ProfsTer?)
c.3110del
c.3477del (p.Ala1160ProfsTer?)
c.3708del (p.Ala1237ProfsTer?)
c.3597del (p.Ala1200ProfsTer?)
c.3480del (p.Ala1161ProfsTer?)
n.3758del
c.343-3264del (n.343-3264del)
c.3822del (p.Ala1275ProfsTer?)
c.3819del (p.Ala1274ProfsTer?)
c.3591del (p.Ala1198ProfsTer?)
c.3642del (p.Ala1215ProfsTer?)
n.3826del
n.3715del
c.3705del (p.Ala1236ProfsTer?)
c.3531del (p.Ala1178ProfsTer?)
c.3417del (p.Ala1140ProfsTer?)
n.3828del
n.3717del
 ClinVar dbSNP
5g.150393479C>ACA447158127TCOF1c.3594C>A (p.Ala1198=)
c.3711C>A (p.Ala1237=)
c.3366C>A (p.Ala1122=)
c.3110C>A
c.3477C>A (p.Ala1159=)
c.3708C>A (p.Ala1236=)
c.3597C>A (p.Ala1199=)
c.3480C>A (p.Ala1160=)
n.3758C>A
c.343-3264C>A (n.343-3264C>A)
c.3822C>A (p.Ala1274=)
c.3819C>A (p.Ala1273=)
c.3591C>A (p.Ala1197=)
c.3642C>A (p.Ala1214=)
n.3826C>A
n.3715C>A
c.3705C>A (p.Ala1235=)
c.3531C>A (p.Ala1177=)
c.3417C>A (p.Ala1139=)
n.3828C>A
n.3717C>A
5g.150393479C=CA1590926010TCOF1c.3594C= (p.Ala1198=)
c.3711C= (p.Ala1237=)
c.3366C= (p.Ala1122=)
c.3110C=
c.3477C= (p.Ala1159=)
c.3708C= (p.Ala1236=)
c.3597C= (p.Ala1199=)
c.3480C= (p.Ala1160=)
n.3758C=
c.343-3264C= (n.343-3264C=)
c.3822C= (p.Ala1274=)
c.3819C= (p.Ala1273=)
c.3591C= (p.Ala1197=)
c.3642C= (p.Ala1214=)
n.3826C=
n.3715C=
c.3705C= (p.Ala1235=)
c.3531C= (p.Ala1177=)
c.3417C= (p.Ala1139=)
n.3828C=
n.3717C=
5g.150393479C>GCA447158124TCOF1c.3594C>G (p.Ala1198=)
c.3711C>G (p.Ala1237=)
c.3366C>G (p.Ala1122=)
c.3110C>G
c.3477C>G (p.Ala1159=)
c.3708C>G (p.Ala1236=)
c.3597C>G (p.Ala1199=)
c.3480C>G (p.Ala1160=)
n.3758C>G
c.343-3264C>G (n.343-3264C>G)
c.3822C>G (p.Ala1274=)
c.3819C>G (p.Ala1273=)
c.3591C>G (p.Ala1197=)
c.3642C>G (p.Ala1214=)
n.3826C>G
n.3715C>G
c.3705C>G (p.Ala1235=)
c.3531C>G (p.Ala1177=)
c.3417C>G (p.Ala1139=)
n.3828C>G
n.3717C>G
5g.150393479C>TCA3511579TCOF1c.3594C>T (p.Ala1198=)
c.3711C>T (p.Ala1237=)
c.3366C>T (p.Ala1122=)
c.3110C>T
c.3477C>T (p.Ala1159=)
c.3708C>T (p.Ala1236=)
c.3597C>T (p.Ala1199=)
c.3480C>T (p.Ala1160=)
n.3758C>T
c.343-3264C>T (n.343-3264C>T)
c.3822C>T (p.Ala1274=)
c.3819C>T (p.Ala1273=)
c.3591C>T (p.Ala1197=)
c.3642C>T (p.Ala1214=)
n.3826C>T
n.3715C>T
c.3705C>T (p.Ala1235=)
c.3531C>T (p.Ala1177=)
c.3417C>T (p.Ala1139=)
n.3828C>T
n.3717C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393480G>ACA3511580TCOF1c.3595G>A (p.Ala1199Thr)
c.3712G>A (p.Ala1238Thr)
c.3367G>A (p.Ala1123Thr)
c.3111G>A
c.3478G>A (p.Ala1160Thr)
c.3709G>A (p.Ala1237Thr)
c.3598G>A (p.Ala1200Thr)
c.3481G>A (p.Ala1161Thr)
n.3759G>A
c.343-3263G>A (n.343-3263G>A)
c.3823G>A (p.Ala1275Thr)
c.3820G>A (p.Ala1274Thr)
c.3592G>A (p.Ala1198Thr)
c.3643G>A (p.Ala1215Thr)
n.3827G>A
n.3716G>A
c.3706G>A (p.Ala1236Thr)
c.3532G>A (p.Ala1178Thr)
c.3418G>A (p.Ala1140Thr)
n.3829G>A
n.3718G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393480G>CCA361739613TCOF1c.3595G>C (p.Ala1199Pro)
c.3712G>C (p.Ala1238Pro)
c.3367G>C (p.Ala1123Pro)
c.3111G>C
c.3478G>C (p.Ala1160Pro)
c.3709G>C (p.Ala1237Pro)
c.3598G>C (p.Ala1200Pro)
c.3481G>C (p.Ala1161Pro)
n.3759G>C
c.343-3263G>C (n.343-3263G>C)
c.3823G>C (p.Ala1275Pro)
c.3820G>C (p.Ala1274Pro)
c.3592G>C (p.Ala1198Pro)
c.3643G>C (p.Ala1215Pro)
n.3827G>C
n.3716G>C
c.3706G>C (p.Ala1236Pro)
c.3532G>C (p.Ala1178Pro)
c.3418G>C (p.Ala1140Pro)
n.3829G>C
n.3718G>C
5g.150393480G=CA1590926011TCOF1c.3595G= (p.Ala1199=)
c.3712G= (p.Ala1238=)
c.3367G= (p.Ala1123=)
c.3111G=
c.3478G= (p.Ala1160=)
c.3709G= (p.Ala1237=)
c.3598G= (p.Ala1200=)
c.3481G= (p.Ala1161=)
n.3759G=
c.343-3263G= (n.343-3263G=)
c.3823G= (p.Ala1275=)
c.3820G= (p.Ala1274=)
c.3592G= (p.Ala1198=)
c.3643G= (p.Ala1215=)
n.3827G=
n.3716G=
c.3706G= (p.Ala1236=)
c.3532G= (p.Ala1178=)
c.3418G= (p.Ala1140=)
n.3829G=
n.3718G=
5g.150393480G>TCA3511581TCOF1c.3595G>T (p.Ala1199Ser)
c.3712G>T (p.Ala1238Ser)
c.3367G>T (p.Ala1123Ser)
c.3111G>T
c.3478G>T (p.Ala1160Ser)
c.3709G>T (p.Ala1237Ser)
c.3598G>T (p.Ala1200Ser)
c.3481G>T (p.Ala1161Ser)
n.3759G>T
c.343-3263G>T (n.343-3263G>T)
c.3823G>T (p.Ala1275Ser)
c.3820G>T (p.Ala1274Ser)
c.3592G>T (p.Ala1198Ser)
c.3643G>T (p.Ala1215Ser)
n.3827G>T
n.3716G>T
c.3706G>T (p.Ala1236Ser)
c.3532G>T (p.Ala1178Ser)
c.3418G>T (p.Ala1140Ser)
n.3829G>T
n.3718G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393481C>ACA361739614TCOF1c.3596C>A (p.Ala1199Asp)
c.3713C>A (p.Ala1238Asp)
c.3368C>A (p.Ala1123Asp)
c.3112C>A
c.3479C>A (p.Ala1160Asp)
c.3710C>A (p.Ala1237Asp)
c.3599C>A (p.Ala1200Asp)
c.3482C>A (p.Ala1161Asp)
n.3760C>A
c.343-3262C>A (n.343-3262C>A)
c.3824C>A (p.Ala1275Asp)
c.3821C>A (p.Ala1274Asp)
c.3593C>A (p.Ala1198Asp)
c.3644C>A (p.Ala1215Asp)
n.3828C>A
n.3717C>A
c.3707C>A (p.Ala1236Asp)
c.3533C>A (p.Ala1178Asp)
c.3419C>A (p.Ala1140Asp)
n.3830C>A
n.3719C>A
5g.150393481C=CA1590926012TCOF1c.3596C= (p.Ala1199=)
c.3713C= (p.Ala1238=)
c.3368C= (p.Ala1123=)
c.3112C=
c.3479C= (p.Ala1160=)
c.3710C= (p.Ala1237=)
c.3599C= (p.Ala1200=)
c.3482C= (p.Ala1161=)
n.3760C=
c.343-3262C= (n.343-3262C=)
c.3824C= (p.Ala1275=)
c.3821C= (p.Ala1274=)
c.3593C= (p.Ala1198=)
c.3644C= (p.Ala1215=)
n.3828C=
n.3717C=
c.3707C= (p.Ala1236=)
c.3533C= (p.Ala1178=)
c.3419C= (p.Ala1140=)
n.3830C=
n.3719C=
5g.150393481C>GCA361739615TCOF1c.3596C>G (p.Ala1199Gly)
c.3713C>G (p.Ala1238Gly)
c.3368C>G (p.Ala1123Gly)
c.3112C>G
c.3479C>G (p.Ala1160Gly)
c.3710C>G (p.Ala1237Gly)
c.3599C>G (p.Ala1200Gly)
c.3482C>G (p.Ala1161Gly)
n.3760C>G
c.343-3262C>G (n.343-3262C>G)
c.3824C>G (p.Ala1275Gly)
c.3821C>G (p.Ala1274Gly)
c.3593C>G (p.Ala1198Gly)
c.3644C>G (p.Ala1215Gly)
n.3828C>G
n.3717C>G
c.3707C>G (p.Ala1236Gly)
c.3533C>G (p.Ala1178Gly)
c.3419C>G (p.Ala1140Gly)
n.3830C>G
n.3719C>G
5g.150393481C>TCA3511582TCOF1c.3596C>T (p.Ala1199Val)
c.3713C>T (p.Ala1238Val)
c.3368C>T (p.Ala1123Val)
c.3112C>T
c.3479C>T (p.Ala1160Val)
c.3710C>T (p.Ala1237Val)
c.3599C>T (p.Ala1200Val)
c.3482C>T (p.Ala1161Val)
n.3760C>T
c.343-3262C>T (n.343-3262C>T)
c.3824C>T (p.Ala1275Val)
c.3821C>T (p.Ala1274Val)
c.3593C>T (p.Ala1198Val)
c.3644C>T (p.Ala1215Val)
n.3828C>T
n.3717C>T
c.3707C>T (p.Ala1236Val)
c.3533C>T (p.Ala1178Val)
c.3419C>T (p.Ala1140Val)
n.3830C>T
n.3719C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393482C>ACA447158136TCOF1c.3597C>A (p.Ala1199=)
c.3714C>A (p.Ala1238=)
c.3369C>A (p.Ala1123=)
c.3113C>A
c.3480C>A (p.Ala1160=)
c.3711C>A (p.Ala1237=)
c.3600C>A (p.Ala1200=)
c.3483C>A (p.Ala1161=)
n.3761C>A
c.343-3261C>A (n.343-3261C>A)
c.3825C>A (p.Ala1275=)
c.3822C>A (p.Ala1274=)
c.3594C>A (p.Ala1198=)
c.3645C>A (p.Ala1215=)
n.3829C>A
n.3718C>A
c.3708C>A (p.Ala1236=)
c.3534C>A (p.Ala1178=)
c.3420C>A (p.Ala1140=)
n.3831C>A
n.3720C>A
5g.150393482C>GCA447158139TCOF1c.3597C>G (p.Ala1199=)
c.3714C>G (p.Ala1238=)
c.3369C>G (p.Ala1123=)
c.3113C>G
c.3480C>G (p.Ala1160=)
c.3711C>G (p.Ala1237=)
c.3600C>G (p.Ala1200=)
c.3483C>G (p.Ala1161=)
n.3761C>G
c.343-3261C>G (n.343-3261C>G)
c.3825C>G (p.Ala1275=)
c.3822C>G (p.Ala1274=)
c.3594C>G (p.Ala1198=)
c.3645C>G (p.Ala1215=)
n.3829C>G
n.3718C>G
c.3708C>G (p.Ala1236=)
c.3534C>G (p.Ala1178=)
c.3420C>G (p.Ala1140=)
n.3831C>G
n.3720C>G
5g.150393482C>TCA447158141TCOF1c.3597C>T (p.Ala1199=)
c.3714C>T (p.Ala1238=)
c.3369C>T (p.Ala1123=)
c.3113C>T
c.3480C>T (p.Ala1160=)
c.3711C>T (p.Ala1237=)
c.3600C>T (p.Ala1200=)
c.3483C>T (p.Ala1161=)
n.3761C>T
c.343-3261C>T (n.343-3261C>T)
c.3825C>T (p.Ala1275=)
c.3822C>T (p.Ala1274=)
c.3594C>T (p.Ala1198=)
c.3645C>T (p.Ala1215=)
n.3829C>T
n.3718C>T
c.3708C>T (p.Ala1236=)
c.3534C>T (p.Ala1178=)
c.3420C>T (p.Ala1140=)
n.3831C>T
n.3720C>T
5g.150393483A>CCA361739619TCOF1c.3598A>C (p.Lys1200Gln)
c.3715A>C (p.Lys1239Gln)
c.3370A>C (p.Lys1124Gln)
c.3114A>C
c.3481A>C (p.Lys1161Gln)
c.3712A>C (p.Lys1238Gln)
c.3601A>C (p.Lys1201Gln)
c.3484A>C (p.Lys1162Gln)
n.3762A>C
c.343-3260A>C (n.343-3260A>C)
c.3826A>C (p.Lys1276Gln)
c.3823A>C (p.Lys1275Gln)
c.3595A>C (p.Lys1199Gln)
c.3646A>C (p.Lys1216Gln)
n.3830A>C
n.3719A>C
c.3709A>C (p.Lys1237Gln)
c.3535A>C (p.Lys1179Gln)
c.3421A>C (p.Lys1141Gln)
n.3832A>C
n.3721A>C
5g.150393483A>GCA361739620TCOF1c.3598A>G (p.Lys1200Glu)
c.3715A>G (p.Lys1239Glu)
c.3370A>G (p.Lys1124Glu)
c.3114A>G
c.3481A>G (p.Lys1161Glu)
c.3712A>G (p.Lys1238Glu)
c.3601A>G (p.Lys1201Glu)
c.3484A>G (p.Lys1162Glu)
n.3762A>G
c.343-3260A>G (n.343-3260A>G)
c.3826A>G (p.Lys1276Glu)
c.3823A>G (p.Lys1275Glu)
c.3595A>G (p.Lys1199Glu)
c.3646A>G (p.Lys1216Glu)
n.3830A>G
n.3719A>G
c.3709A>G (p.Lys1237Glu)
c.3535A>G (p.Lys1179Glu)
c.3421A>G (p.Lys1141Glu)
n.3832A>G
n.3721A>G
5g.150393483A>TCA361739621TCOF1c.3598A>T (p.Lys1200Ter)
c.3715A>T (p.Lys1239Ter)
c.3370A>T (p.Lys1124Ter)
c.3114A>T
c.3481A>T (p.Lys1161Ter)
c.3712A>T (p.Lys1238Ter)
c.3601A>T (p.Lys1201Ter)
c.3484A>T (p.Lys1162Ter)
n.3762A>T
c.343-3260A>T (n.343-3260A>T)
c.3826A>T (p.Lys1276Ter)
c.3823A>T (p.Lys1275Ter)
c.3595A>T (p.Lys1199Ter)
c.3646A>T (p.Lys1216Ter)
n.3830A>T
n.3719A>T
c.3709A>T (p.Lys1237Ter)
c.3535A>T (p.Lys1179Ter)
c.3421A>T (p.Lys1141Ter)
n.3832A>T
n.3721A>T
5g.150393484A>CCA361739622TCOF1c.3599A>C (p.Lys1200Thr)
c.3716A>C (p.Lys1239Thr)
c.3371A>C (p.Lys1124Thr)
c.3115A>C
c.3482A>C (p.Lys1161Thr)
c.3713A>C (p.Lys1238Thr)
c.3602A>C (p.Lys1201Thr)
c.3485A>C (p.Lys1162Thr)
n.3763A>C
c.343-3259A>C (n.343-3259A>C)
c.3827A>C (p.Lys1276Thr)
c.3824A>C (p.Lys1275Thr)
c.3596A>C (p.Lys1199Thr)
c.3647A>C (p.Lys1216Thr)
n.3831A>C
n.3720A>C
c.3710A>C (p.Lys1237Thr)
c.3536A>C (p.Lys1179Thr)
c.3422A>C (p.Lys1141Thr)
n.3833A>C
n.3722A>C
 gnomAD v4
5g.150393484A>GCA361739623TCOF1c.3599A>G (p.Lys1200Arg)
c.3716A>G (p.Lys1239Arg)
c.3371A>G (p.Lys1124Arg)
c.3115A>G
c.3482A>G (p.Lys1161Arg)
c.3713A>G (p.Lys1238Arg)
c.3602A>G (p.Lys1201Arg)
c.3485A>G (p.Lys1162Arg)
n.3763A>G
c.343-3259A>G (n.343-3259A>G)
c.3827A>G (p.Lys1276Arg)
c.3824A>G (p.Lys1275Arg)
c.3596A>G (p.Lys1199Arg)
c.3647A>G (p.Lys1216Arg)
n.3831A>G
n.3720A>G
c.3710A>G (p.Lys1237Arg)
c.3536A>G (p.Lys1179Arg)
c.3422A>G (p.Lys1141Arg)
n.3833A>G
n.3722A>G
 gnomAD v4
5g.150393484A>TCA361739625TCOF1c.3599A>T (p.Lys1200Ile)
c.3716A>T (p.Lys1239Ile)
c.3371A>T (p.Lys1124Ile)
c.3115A>T
c.3482A>T (p.Lys1161Ile)
c.3713A>T (p.Lys1238Ile)
c.3602A>T (p.Lys1201Ile)
c.3485A>T (p.Lys1162Ile)
n.3763A>T
c.343-3259A>T (n.343-3259A>T)
c.3827A>T (p.Lys1276Ile)
c.3824A>T (p.Lys1275Ile)
c.3596A>T (p.Lys1199Ile)
c.3647A>T (p.Lys1216Ile)
n.3831A>T
n.3720A>T
c.3710A>T (p.Lys1237Ile)
c.3536A>T (p.Lys1179Ile)
c.3422A>T (p.Lys1141Ile)
n.3833A>T
n.3722A>T
5g.150393485A>CCA361739635TCOF1c.3600A>C (p.Lys1200Asn)
c.3717A>C (p.Lys1239Asn)
c.3372A>C (p.Lys1124Asn)
c.3116A>C
c.3483A>C (p.Lys1161Asn)
c.3714A>C (p.Lys1238Asn)
c.3603A>C (p.Lys1201Asn)
c.3486A>C (p.Lys1162Asn)
n.3764A>C
c.343-3258A>C (n.343-3258A>C)
c.3828A>C (p.Lys1276Asn)
c.3825A>C (p.Lys1275Asn)
c.3597A>C (p.Lys1199Asn)
c.3648A>C (p.Lys1216Asn)
n.3832A>C
n.3721A>C
c.3711A>C (p.Lys1237Asn)
c.3537A>C (p.Lys1179Asn)
c.3423A>C (p.Lys1141Asn)
n.3834A>C
n.3723A>C
5g.150393485A>GCA447158151TCOF1c.3600A>G (p.Lys1200=)
c.3717A>G (p.Lys1239=)
c.3372A>G (p.Lys1124=)
c.3116A>G
c.3483A>G (p.Lys1161=)
c.3714A>G (p.Lys1238=)
c.3603A>G (p.Lys1201=)
c.3486A>G (p.Lys1162=)
n.3764A>G
c.343-3258A>G (n.343-3258A>G)
c.3828A>G (p.Lys1276=)
c.3825A>G (p.Lys1275=)
c.3597A>G (p.Lys1199=)
c.3648A>G (p.Lys1216=)
n.3832A>G
n.3721A>G
c.3711A>G (p.Lys1237=)
c.3537A>G (p.Lys1179=)
c.3423A>G (p.Lys1141=)
n.3834A>G
n.3723A>G
 gnomAD v4
5g.150393485A>TCA361739637TCOF1c.3600A>T (p.Lys1200Asn)
c.3717A>T (p.Lys1239Asn)
c.3372A>T (p.Lys1124Asn)
c.3116A>T
c.3483A>T (p.Lys1161Asn)
c.3714A>T (p.Lys1238Asn)
c.3603A>T (p.Lys1201Asn)
c.3486A>T (p.Lys1162Asn)
n.3764A>T
c.343-3258A>T (n.343-3258A>T)
c.3828A>T (p.Lys1276Asn)
c.3825A>T (p.Lys1275Asn)
c.3597A>T (p.Lys1199Asn)
c.3648A>T (p.Lys1216Asn)
n.3832A>T
n.3721A>T
c.3711A>T (p.Lys1237Asn)
c.3537A>T (p.Lys1179Asn)
c.3423A>T (p.Lys1141Asn)
n.3834A>T
n.3723A>T
5g.150393486G>ACA361739638TCOF1c.3601G>A (p.Asp1201Asn)
c.3718G>A (p.Asp1240Asn)
c.3373G>A (p.Asp1125Asn)
c.3117G>A
c.3484G>A (p.Asp1162Asn)
c.3715G>A (p.Asp1239Asn)
c.3604G>A (p.Asp1202Asn)
c.3487G>A (p.Asp1163Asn)
n.3765G>A
c.343-3257G>A (n.343-3257G>A)
c.3829G>A (p.Asp1277Asn)
c.3826G>A (p.Asp1276Asn)
c.3598G>A (p.Asp1200Asn)
c.3649G>A (p.Asp1217Asn)
n.3833G>A
n.3722G>A
c.3712G>A (p.Asp1238Asn)
c.3538G>A (p.Asp1180Asn)
c.3424G>A (p.Asp1142Asn)
n.3835G>A
n.3724G>A
5g.150393486G>CCA361739639TCOF1c.3601G>C (p.Asp1201His)
c.3718G>C (p.Asp1240His)
c.3373G>C (p.Asp1125His)
c.3117G>C
c.3484G>C (p.Asp1162His)
c.3715G>C (p.Asp1239His)
c.3604G>C (p.Asp1202His)
c.3487G>C (p.Asp1163His)
n.3765G>C
c.343-3257G>C (n.343-3257G>C)
c.3829G>C (p.Asp1277His)
c.3826G>C (p.Asp1276His)
c.3598G>C (p.Asp1200His)
c.3649G>C (p.Asp1217His)
n.3833G>C
n.3722G>C
c.3712G>C (p.Asp1238His)
c.3538G>C (p.Asp1180His)
c.3424G>C (p.Asp1142His)
n.3835G>C
n.3724G>C
5g.150393486G>TCA361739640TCOF1c.3601G>T (p.Asp1201Tyr)
c.3718G>T (p.Asp1240Tyr)
c.3373G>T (p.Asp1125Tyr)
c.3117G>T
c.3484G>T (p.Asp1162Tyr)
c.3715G>T (p.Asp1239Tyr)
c.3604G>T (p.Asp1202Tyr)
c.3487G>T (p.Asp1163Tyr)
n.3765G>T
c.343-3257G>T (n.343-3257G>T)
c.3829G>T (p.Asp1277Tyr)
c.3826G>T (p.Asp1276Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3649G>T (p.Asp1217Tyr)
n.3833G>T
n.3722G>T
c.3712G>T (p.Asp1238Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3424G>T (p.Asp1142Tyr)
n.3835G>T
n.3724G>T
5g.150393487A>CCA361739641TCOF1c.3602A>C (p.Asp1201Ala)
c.3719A>C (p.Asp1240Ala)
c.3374A>C (p.Asp1125Ala)
c.3118A>C
c.3485A>C (p.Asp1162Ala)
c.3716A>C (p.Asp1239Ala)
c.3605A>C (p.Asp1202Ala)
c.3488A>C (p.Asp1163Ala)
n.3766A>C
c.343-3256A>C (n.343-3256A>C)
c.3830A>C (p.Asp1277Ala)
c.3827A>C (p.Asp1276Ala)
c.3599A>C (p.Asp1200Ala)
c.3650A>C (p.Asp1217Ala)
n.3834A>C
n.3723A>C
c.3713A>C (p.Asp1238Ala)
c.3539A>C (p.Asp1180Ala)
c.3425A>C (p.Asp1142Ala)
n.3836A>C
n.3725A>C
5g.150393487A>GCA361739642TCOF1c.3602A>G (p.Asp1201Gly)
c.3719A>G (p.Asp1240Gly)
c.3374A>G (p.Asp1125Gly)
c.3118A>G
c.3485A>G (p.Asp1162Gly)
c.3716A>G (p.Asp1239Gly)
c.3605A>G (p.Asp1202Gly)
c.3488A>G (p.Asp1163Gly)
n.3766A>G
c.343-3256A>G (n.343-3256A>G)
c.3830A>G (p.Asp1277Gly)
c.3827A>G (p.Asp1276Gly)
c.3599A>G (p.Asp1200Gly)
c.3650A>G (p.Asp1217Gly)
n.3834A>G
n.3723A>G
c.3713A>G (p.Asp1238Gly)
c.3539A>G (p.Asp1180Gly)
c.3425A>G (p.Asp1142Gly)
n.3836A>G
n.3725A>G
 gnomAD v4
5g.150393487A>TCA361739643TCOF1c.3602A>T (p.Asp1201Val)
c.3719A>T (p.Asp1240Val)
c.3374A>T (p.Asp1125Val)
c.3118A>T
c.3485A>T (p.Asp1162Val)
c.3716A>T (p.Asp1239Val)
c.3605A>T (p.Asp1202Val)
c.3488A>T (p.Asp1163Val)
n.3766A>T
c.343-3256A>T (n.343-3256A>T)
c.3830A>T (p.Asp1277Val)
c.3827A>T (p.Asp1276Val)
c.3599A>T (p.Asp1200Val)
c.3650A>T (p.Asp1217Val)
n.3834A>T
n.3723A>T
c.3713A>T (p.Asp1238Val)
c.3539A>T (p.Asp1180Val)
c.3425A>T (p.Asp1142Val)
n.3836A>T
n.3725A>T
5g.150393488T>ACA361739644TCOF1c.3603T>A (p.Asp1201Glu)
c.3720T>A (p.Asp1240Glu)
c.3375T>A (p.Asp1125Glu)
c.3119T>A
c.3486T>A (p.Asp1162Glu)
c.3717T>A (p.Asp1239Glu)
c.3606T>A (p.Asp1202Glu)
c.3489T>A (p.Asp1163Glu)
n.3767T>A
c.343-3255T>A (n.343-3255T>A)
c.3831T>A (p.Asp1277Glu)
c.3828T>A (p.Asp1276Glu)
c.3600T>A (p.Asp1200Glu)
c.3651T>A (p.Asp1217Glu)
n.3835T>A
n.3724T>A
c.3714T>A (p.Asp1238Glu)
c.3540T>A (p.Asp1180Glu)
c.3426T>A (p.Asp1142Glu)
n.3837T>A
n.3726T>A
5g.150393488T>CCA447158160TCOF1c.3603T>C (p.Asp1201=)
c.3720T>C (p.Asp1240=)
c.3375T>C (p.Asp1125=)
c.3119T>C
c.3486T>C (p.Asp1162=)
c.3717T>C (p.Asp1239=)
c.3606T>C (p.Asp1202=)
c.3489T>C (p.Asp1163=)
n.3767T>C
c.343-3255T>C (n.343-3255T>C)
c.3831T>C (p.Asp1277=)
c.3828T>C (p.Asp1276=)
c.3600T>C (p.Asp1200=)
c.3651T>C (p.Asp1217=)
n.3835T>C
n.3724T>C
c.3714T>C (p.Asp1238=)
c.3540T>C (p.Asp1180=)
c.3426T>C (p.Asp1142=)
n.3837T>C
n.3726T>C
5g.150393488T>GCA361739645TCOF1c.3603T>G (p.Asp1201Glu)
c.3720T>G (p.Asp1240Glu)
c.3375T>G (p.Asp1125Glu)
c.3119T>G
c.3486T>G (p.Asp1162Glu)
c.3717T>G (p.Asp1239Glu)
c.3606T>G (p.Asp1202Glu)
c.3489T>G (p.Asp1163Glu)
n.3767T>G
c.343-3255T>G (n.343-3255T>G)
c.3831T>G (p.Asp1277Glu)
c.3828T>G (p.Asp1276Glu)
c.3600T>G (p.Asp1200Glu)
c.3651T>G (p.Asp1217Glu)
n.3835T>G
n.3724T>G
c.3714T>G (p.Asp1238Glu)
c.3540T>G (p.Asp1180Glu)
c.3426T>G (p.Asp1142Glu)
n.3837T>G
n.3726T>G
 COSMIC COSMIC
5g.150393489G>ACA361739648TCOF1c.3604G>A (p.Asp1202Asn)
c.3721G>A (p.Asp1241Asn)
c.3376G>A (p.Asp1126Asn)
c.3120G>A
c.3487G>A (p.Asp1163Asn)
c.3718G>A (p.Asp1240Asn)
c.3607G>A (p.Asp1203Asn)
c.3490G>A (p.Asp1164Asn)
n.3768G>A
c.343-3254G>A (n.343-3254G>A)
c.3832G>A (p.Asp1278Asn)
c.3829G>A (p.Asp1277Asn)
c.3601G>A (p.Asp1201Asn)
c.3652G>A (p.Asp1218Asn)
n.3836G>A
n.3725G>A
c.3715G>A (p.Asp1239Asn)
c.3541G>A (p.Asp1181Asn)
c.3427G>A (p.Asp1143Asn)
n.3838G>A
n.3727G>A
5g.150393489G>CCA361739653TCOF1c.3604G>C (p.Asp1202His)
c.3721G>C (p.Asp1241His)
c.3376G>C (p.Asp1126His)
c.3120G>C
c.3487G>C (p.Asp1163His)
c.3718G>C (p.Asp1240His)
c.3607G>C (p.Asp1203His)
c.3490G>C (p.Asp1164His)
n.3768G>C
c.343-3254G>C (n.343-3254G>C)
c.3832G>C (p.Asp1278His)
c.3829G>C (p.Asp1277His)
c.3601G>C (p.Asp1201His)
c.3652G>C (p.Asp1218His)
n.3836G>C
n.3725G>C
c.3715G>C (p.Asp1239His)
c.3541G>C (p.Asp1181His)
c.3427G>C (p.Asp1143His)
n.3838G>C
n.3727G>C
5g.150393489G=CA1590926013TCOF1c.3604G= (p.Asp1202=)
c.3721G= (p.Asp1241=)
c.3376G= (p.Asp1126=)
c.3120G=
c.3487G= (p.Asp1163=)
c.3718G= (p.Asp1240=)
c.3607G= (p.Asp1203=)
c.3490G= (p.Asp1164=)
n.3768G=
c.343-3254G= (n.343-3254G=)
c.3832G= (p.Asp1278=)
c.3829G= (p.Asp1277=)
c.3601G= (p.Asp1201=)
c.3652G= (p.Asp1218=)
n.3836G=
n.3725G=
c.3715G= (p.Asp1239=)
c.3541G= (p.Asp1181=)
c.3427G= (p.Asp1143=)
n.3838G=
n.3727G=
5g.150393489G>TCA361739654TCOF1c.3604G>T (p.Asp1202Tyr)
c.3721G>T (p.Asp1241Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3120G>T
c.3487G>T (p.Asp1163Tyr)
c.3718G>T (p.Asp1240Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3490G>T (p.Asp1164Tyr)
n.3768G>T
c.343-3254G>T (n.343-3254G>T)
c.3832G>T (p.Asp1278Tyr)
c.3829G>T (p.Asp1277Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3652G>T (p.Asp1218Tyr)
n.3836G>T
n.3725G>T
c.3715G>T (p.Asp1239Tyr)
c.3541G>T (p.Asp1181Tyr)
c.3427G>T (p.Asp1143Tyr)
n.3838G>T
n.3727G>T
 dbSNP gnomAD v2 gnomAD v4
5g.150393490A=CA1590926014TCOF1c.3605A= (p.Asp1202=)
c.3722A= (p.Asp1241=)
c.3377A= (p.Asp1126=)
c.3121A=
c.3488A= (p.Asp1163=)
c.3719A= (p.Asp1240=)
c.3608A= (p.Asp1203=)
c.3491A= (p.Asp1164=)
n.3769A=
c.343-3253A= (n.343-3253A=)
c.3833A= (p.Asp1278=)
c.3830A= (p.Asp1277=)
c.3602A= (p.Asp1201=)
c.3653A= (p.Asp1218=)
n.3837A=
n.3726A=
c.3716A= (p.Asp1239=)
c.3542A= (p.Asp1181=)
c.3428A= (p.Asp1143=)
n.3839A=
n.3728A=
5g.150393490A>CCA361739658TCOF1c.3605A>C (p.Asp1202Ala)
c.3722A>C (p.Asp1241Ala)
c.3377A>C (p.Asp1126Ala)
c.3121A>C
c.3488A>C (p.Asp1163Ala)
c.3719A>C (p.Asp1240Ala)
c.3608A>C (p.Asp1203Ala)
c.3491A>C (p.Asp1164Ala)
n.3769A>C
c.343-3253A>C (n.343-3253A>C)
c.3833A>C (p.Asp1278Ala)
c.3830A>C (p.Asp1277Ala)
c.3602A>C (p.Asp1201Ala)
c.3653A>C (p.Asp1218Ala)
n.3837A>C
n.3726A>C
c.3716A>C (p.Asp1239Ala)
c.3542A>C (p.Asp1181Ala)
c.3428A>C (p.Asp1143Ala)
n.3839A>C
n.3728A>C
 dbSNP gnomAD v3 gnomAD v4
5g.150393490A>GCA361739657TCOF1c.3605A>G (p.Asp1202Gly)
c.3722A>G (p.Asp1241Gly)
c.3377A>G (p.Asp1126Gly)
c.3121A>G
c.3488A>G (p.Asp1163Gly)
c.3719A>G (p.Asp1240Gly)
c.3608A>G (p.Asp1203Gly)
c.3491A>G (p.Asp1164Gly)
n.3769A>G
c.343-3253A>G (n.343-3253A>G)
c.3833A>G (p.Asp1278Gly)
c.3830A>G (p.Asp1277Gly)
c.3602A>G (p.Asp1201Gly)
c.3653A>G (p.Asp1218Gly)
n.3837A>G
n.3726A>G
c.3716A>G (p.Asp1239Gly)
c.3542A>G (p.Asp1181Gly)
c.3428A>G (p.Asp1143Gly)
n.3839A>G
n.3728A>G
5g.150393490A>TCA361739656TCOF1c.3605A>T (p.Asp1202Val)
c.3722A>T (p.Asp1241Val)
c.3377A>T (p.Asp1126Val)
c.3121A>T
c.3488A>T (p.Asp1163Val)
c.3719A>T (p.Asp1240Val)
c.3608A>T (p.Asp1203Val)
c.3491A>T (p.Asp1164Val)
n.3769A>T
c.343-3253A>T (n.343-3253A>T)
c.3833A>T (p.Asp1278Val)
c.3830A>T (p.Asp1277Val)
c.3602A>T (p.Asp1201Val)
c.3653A>T (p.Asp1218Val)
n.3837A>T
n.3726A>T
c.3716A>T (p.Asp1239Val)
c.3542A>T (p.Asp1181Val)
c.3428A>T (p.Asp1143Val)
n.3839A>T
n.3728A>T
5g.150393491C>ACA361739659TCOF1c.3606C>A (p.Asp1202Glu)
c.3723C>A (p.Asp1241Glu)
c.3378C>A (p.Asp1126Glu)
c.3122C>A
c.3489C>A (p.Asp1163Glu)
c.3720C>A (p.Asp1240Glu)
c.3609C>A (p.Asp1203Glu)
c.3492C>A (p.Asp1164Glu)
n.3770C>A
c.343-3252C>A (n.343-3252C>A)
c.3834C>A (p.Asp1278Glu)
c.3831C>A (p.Asp1277Glu)
c.3603C>A (p.Asp1201Glu)
c.3654C>A (p.Asp1218Glu)
n.3838C>A
n.3727C>A
c.3717C>A (p.Asp1239Glu)
c.3543C>A (p.Asp1181Glu)
c.3429C>A (p.Asp1143Glu)
n.3840C>A
n.3729C>A
5g.150393491C>GCA361739662TCOF1c.3606C>G (p.Asp1202Glu)
c.3723C>G (p.Asp1241Glu)
c.3378C>G (p.Asp1126Glu)
c.3122C>G
c.3489C>G (p.Asp1163Glu)
c.3720C>G (p.Asp1240Glu)
c.3609C>G (p.Asp1203Glu)
c.3492C>G (p.Asp1164Glu)
n.3770C>G
c.343-3252C>G (n.343-3252C>G)
c.3834C>G (p.Asp1278Glu)
c.3831C>G (p.Asp1277Glu)
c.3603C>G (p.Asp1201Glu)
c.3654C>G (p.Asp1218Glu)
n.3838C>G
n.3727C>G
c.3717C>G (p.Asp1239Glu)
c.3543C>G (p.Asp1181Glu)
c.3429C>G (p.Asp1143Glu)
n.3840C>G
n.3729C>G
5g.150393491C>TCA447158170TCOF1c.3606C>T (p.Asp1202=)
c.3723C>T (p.Asp1241=)
c.3378C>T (p.Asp1126=)
c.3122C>T
c.3489C>T (p.Asp1163=)
c.3720C>T (p.Asp1240=)
c.3609C>T (p.Asp1203=)
c.3492C>T (p.Asp1164=)
n.3770C>T
c.343-3252C>T (n.343-3252C>T)
c.3834C>T (p.Asp1278=)
c.3831C>T (p.Asp1277=)
c.3603C>T (p.Asp1201=)
c.3654C>T (p.Asp1218=)
n.3838C>T
n.3727C>T
c.3717C>T (p.Asp1239=)
c.3543C>T (p.Asp1181=)
c.3429C>T (p.Asp1143=)
n.3840C>T
n.3729C>T
5g.150393492C>ACA361739664TCOF1c.3607C>A (p.Pro1203Thr)
c.3724C>A (p.Pro1242Thr)
c.3379C>A (p.Pro1127Thr)
c.3123C>A
c.3490C>A (p.Pro1164Thr)
c.3721C>A (p.Pro1241Thr)
c.3610C>A (p.Pro1204Thr)
c.3493C>A (p.Pro1165Thr)
n.3771C>A
c.343-3251C>A (n.343-3251C>A)
c.3835C>A (p.Pro1279Thr)
c.3832C>A (p.Pro1278Thr)
c.3604C>A (p.Pro1202Thr)
c.3655C>A (p.Pro1219Thr)
n.3839C>A
n.3728C>A
c.3718C>A (p.Pro1240Thr)
c.3544C>A (p.Pro1182Thr)
c.3430C>A (p.Pro1144Thr)
n.3841C>A
n.3730C>A
5g.150393492C>GCA361739669TCOF1c.3607C>G (p.Pro1203Ala)
c.3724C>G (p.Pro1242Ala)
c.3379C>G (p.Pro1127Ala)
c.3123C>G
c.3490C>G (p.Pro1164Ala)
c.3721C>G (p.Pro1241Ala)
c.3610C>G (p.Pro1204Ala)
c.3493C>G (p.Pro1165Ala)
n.3771C>G
c.343-3251C>G (n.343-3251C>G)
c.3835C>G (p.Pro1279Ala)
c.3832C>G (p.Pro1278Ala)
c.3604C>G (p.Pro1202Ala)
c.3655C>G (p.Pro1219Ala)
n.3839C>G
n.3728C>G
c.3718C>G (p.Pro1240Ala)
c.3544C>G (p.Pro1182Ala)
c.3430C>G (p.Pro1144Ala)
n.3841C>G
n.3730C>G
5g.150393492C>TCA361739668TCOF1c.3607C>T (p.Pro1203Ser)
c.3724C>T (p.Pro1242Ser)
c.3379C>T (p.Pro1127Ser)
c.3123C>T
c.3490C>T (p.Pro1164Ser)
c.3721C>T (p.Pro1241Ser)
c.3610C>T (p.Pro1204Ser)
c.3493C>T (p.Pro1165Ser)
n.3771C>T
c.343-3251C>T (n.343-3251C>T)
c.3835C>T (p.Pro1279Ser)
c.3832C>T (p.Pro1278Ser)
c.3604C>T (p.Pro1202Ser)
c.3655C>T (p.Pro1219Ser)
n.3839C>T
n.3728C>T
c.3718C>T (p.Pro1240Ser)
c.3544C>T (p.Pro1182Ser)
c.3430C>T (p.Pro1144Ser)
n.3841C>T
n.3730C>T
5g.150393493C>ACA361739670TCOF1c.3608C>A (p.Pro1203Gln)
c.3725C>A (p.Pro1242Gln)
c.3380C>A (p.Pro1127Gln)
c.3124C>A
c.3491C>A (p.Pro1164Gln)
c.3722C>A (p.Pro1241Gln)
c.3611C>A (p.Pro1204Gln)
c.3494C>A (p.Pro1165Gln)
n.3772C>A
c.343-3250C>A (n.343-3250C>A)
c.3836C>A (p.Pro1279Gln)
c.3833C>A (p.Pro1278Gln)
c.3605C>A (p.Pro1202Gln)
c.3656C>A (p.Pro1219Gln)
n.3840C>A
n.3729C>A
c.3719C>A (p.Pro1240Gln)
c.3545C>A (p.Pro1182Gln)
c.3431C>A (p.Pro1144Gln)
n.3842C>A
n.3731C>A
5g.150393493C=CA1590926015TCOF1c.3608C= (p.Pro1203=)
c.3725C= (p.Pro1242=)
c.3380C= (p.Pro1127=)
c.3124C=
c.3491C= (p.Pro1164=)
c.3722C= (p.Pro1241=)
c.3611C= (p.Pro1204=)
c.3494C= (p.Pro1165=)
n.3772C=
c.343-3250C= (n.343-3250C=)
c.3836C= (p.Pro1279=)
c.3833C= (p.Pro1278=)
c.3605C= (p.Pro1202=)
c.3656C= (p.Pro1219=)
n.3840C=
n.3729C=
c.3719C= (p.Pro1240=)
c.3545C= (p.Pro1182=)
c.3431C= (p.Pro1144=)
n.3842C=
n.3731C=
5g.150393493C>GCA361739671TCOF1c.3608C>G (p.Pro1203Arg)
c.3725C>G (p.Pro1242Arg)
c.3380C>G (p.Pro1127Arg)
c.3124C>G
c.3491C>G (p.Pro1164Arg)
c.3722C>G (p.Pro1241Arg)
c.3611C>G (p.Pro1204Arg)
c.3494C>G (p.Pro1165Arg)
n.3772C>G
c.343-3250C>G (n.343-3250C>G)
c.3836C>G (p.Pro1279Arg)
c.3833C>G (p.Pro1278Arg)
c.3605C>G (p.Pro1202Arg)
c.3656C>G (p.Pro1219Arg)
n.3840C>G
n.3729C>G
c.3719C>G (p.Pro1240Arg)
c.3545C>G (p.Pro1182Arg)
c.3431C>G (p.Pro1144Arg)
n.3842C>G
n.3731C>G
5g.150393493C>TCA129107275TCOF1c.3608C>T (p.Pro1203Leu)
c.3725C>T (p.Pro1242Leu)
c.3380C>T (p.Pro1127Leu)
c.3124C>T
c.3491C>T (p.Pro1164Leu)
c.3722C>T (p.Pro1241Leu)
c.3611C>T (p.Pro1204Leu)
c.3494C>T (p.Pro1165Leu)
n.3772C>T
c.343-3250C>T (n.343-3250C>T)
c.3836C>T (p.Pro1279Leu)
c.3833C>T (p.Pro1278Leu)
c.3605C>T (p.Pro1202Leu)
c.3656C>T (p.Pro1219Leu)
n.3840C>T
n.3729C>T
c.3719C>T (p.Pro1240Leu)
c.3545C>T (p.Pro1182Leu)
c.3431C>T (p.Pro1144Leu)
n.3842C>T
n.3731C>T
 ClinVar dbSNP
5g.150393494A=CA1590926016TCOF1c.3609A= (p.Pro1203=)
c.3726A= (p.Pro1242=)
c.3381A= (p.Pro1127=)
c.3125A=
c.3492A= (p.Pro1164=)
c.3723A= (p.Pro1241=)
c.3612A= (p.Pro1204=)
c.3495A= (p.Pro1165=)
n.3773A=
c.343-3249A= (n.343-3249A=)
c.3837A= (p.Pro1279=)
c.3834A= (p.Pro1278=)
c.3606A= (p.Pro1202=)
c.3657A= (p.Pro1219=)
n.3841A=
n.3730A=
c.3720A= (p.Pro1240=)
c.3546A= (p.Pro1182=)
c.3432A= (p.Pro1144=)
n.3843A=
n.3732A=
5g.150393494A>CCA447158177TCOF1c.3609A>C (p.Pro1203=)
c.3726A>C (p.Pro1242=)
c.3381A>C (p.Pro1127=)
c.3125A>C
c.3492A>C (p.Pro1164=)
c.3723A>C (p.Pro1241=)
c.3612A>C (p.Pro1204=)
c.3495A>C (p.Pro1165=)
n.3773A>C
c.343-3249A>C (n.343-3249A>C)
c.3837A>C (p.Pro1279=)
c.3834A>C (p.Pro1278=)
c.3606A>C (p.Pro1202=)
c.3657A>C (p.Pro1219=)
n.3841A>C
n.3730A>C
c.3720A>C (p.Pro1240=)
c.3546A>C (p.Pro1182=)
c.3432A>C (p.Pro1144=)
n.3843A>C
n.3732A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.150393494A>GCA447158179TCOF1c.3609A>G (p.Pro1203=)
c.3726A>G (p.Pro1242=)
c.3381A>G (p.Pro1127=)
c.3125A>G
c.3492A>G (p.Pro1164=)
c.3723A>G (p.Pro1241=)
c.3612A>G (p.Pro1204=)
c.3495A>G (p.Pro1165=)
n.3773A>G
c.343-3249A>G (n.343-3249A>G)
c.3837A>G (p.Pro1279=)
c.3834A>G (p.Pro1278=)
c.3606A>G (p.Pro1202=)
c.3657A>G (p.Pro1219=)
n.3841A>G
n.3730A>G
c.3720A>G (p.Pro1240=)
c.3546A>G (p.Pro1182=)
c.3432A>G (p.Pro1144=)
n.3843A>G
n.3732A>G
5g.150393494A>TCA447158181TCOF1c.3609A>T (p.Pro1203=)
c.3726A>T (p.Pro1242=)
c.3381A>T (p.Pro1127=)
c.3125A>T
c.3492A>T (p.Pro1164=)
c.3723A>T (p.Pro1241=)
c.3612A>T (p.Pro1204=)
c.3495A>T (p.Pro1165=)
n.3773A>T
c.343-3249A>T (n.343-3249A>T)
c.3837A>T (p.Pro1279=)
c.3834A>T (p.Pro1278=)
c.3606A>T (p.Pro1202=)
c.3657A>T (p.Pro1219=)
n.3841A>T
n.3730A>T
c.3720A>T (p.Pro1240=)
c.3546A>T (p.Pro1182=)
c.3432A>T (p.Pro1144=)
n.3843A>T
n.3732A>T
5g.150393495G>ACA361739675TCOF1c.3610G>A (p.Asp1204Asn)
c.3727G>A (p.Asp1243Asn)
c.3382G>A (p.Asp1128Asn)
c.3126G>A
c.3493G>A (p.Asp1165Asn)
c.3724G>A (p.Asp1242Asn)
c.3613G>A (p.Asp1205Asn)
c.3496G>A (p.Asp1166Asn)
n.3774G>A
c.343-3248G>A (n.343-3248G>A)
c.3838G>A (p.Asp1280Asn)
c.3835G>A (p.Asp1279Asn)
c.3607G>A (p.Asp1203Asn)
c.3658G>A (p.Asp1220Asn)
n.3842G>A
n.3731G>A
c.3721G>A (p.Asp1241Asn)
c.3547G>A (p.Asp1183Asn)
c.3433G>A (p.Asp1145Asn)
n.3844G>A
n.3733G>A
5g.150393495G>CCA361739677TCOF1c.3610G>C (p.Asp1204His)
c.3727G>C (p.Asp1243His)
c.3382G>C (p.Asp1128His)
c.3126G>C
c.3493G>C (p.Asp1165His)
c.3724G>C (p.Asp1242His)
c.3613G>C (p.Asp1205His)
c.3496G>C (p.Asp1166His)
n.3774G>C
c.343-3248G>C (n.343-3248G>C)
c.3838G>C (p.Asp1280His)
c.3835G>C (p.Asp1279His)
c.3607G>C (p.Asp1203His)
c.3658G>C (p.Asp1220His)
n.3842G>C
n.3731G>C
c.3721G>C (p.Asp1241His)
c.3547G>C (p.Asp1183His)
c.3433G>C (p.Asp1145His)
n.3844G>C
n.3733G>C
 COSMIC COSMIC
5g.150393495G>TCA361739678TCOF1c.3610G>T (p.Asp1204Tyr)
c.3727G>T (p.Asp1243Tyr)
c.3382G>T (p.Asp1128Tyr)
c.3126G>T
c.3493G>T (p.Asp1165Tyr)
c.3724G>T (p.Asp1242Tyr)
c.3613G>T (p.Asp1205Tyr)
c.3496G>T (p.Asp1166Tyr)
n.3774G>T
c.343-3248G>T (n.343-3248G>T)
c.3838G>T (p.Asp1280Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3658G>T (p.Asp1220Tyr)
n.3842G>T
n.3731G>T
c.3721G>T (p.Asp1241Tyr)
c.3547G>T (p.Asp1183Tyr)
c.3433G>T (p.Asp1145Tyr)
n.3844G>T
n.3733G>T
5g.150393496A>CCA361739681TCOF1c.3611A>C (p.Asp1204Ala)
c.3728A>C (p.Asp1243Ala)
c.3383A>C (p.Asp1128Ala)
c.3127A>C
c.3494A>C (p.Asp1165Ala)
c.3725A>C (p.Asp1242Ala)
c.3614A>C (p.Asp1205Ala)
c.3497A>C (p.Asp1166Ala)
n.3775A>C
c.343-3247A>C (n.343-3247A>C)
c.3839A>C (p.Asp1280Ala)
c.3836A>C (p.Asp1279Ala)
c.3608A>C (p.Asp1203Ala)
c.3659A>C (p.Asp1220Ala)
n.3843A>C
n.3732A>C
c.3722A>C (p.Asp1241Ala)
c.3548A>C (p.Asp1183Ala)
c.3434A>C (p.Asp1145Ala)
n.3845A>C
n.3734A>C
 gnomAD v4
5g.150393496A>GCA361739679TCOF1c.3611A>G (p.Asp1204Gly)
c.3728A>G (p.Asp1243Gly)
c.3383A>G (p.Asp1128Gly)
c.3127A>G
c.3494A>G (p.Asp1165Gly)
c.3725A>G (p.Asp1242Gly)
c.3614A>G (p.Asp1205Gly)
c.3497A>G (p.Asp1166Gly)
n.3775A>G
c.343-3247A>G (n.343-3247A>G)
c.3839A>G (p.Asp1280Gly)
c.3836A>G (p.Asp1279Gly)
c.3608A>G (p.Asp1203Gly)
c.3659A>G (p.Asp1220Gly)
n.3843A>G
n.3732A>G
c.3722A>G (p.Asp1241Gly)
c.3548A>G (p.Asp1183Gly)
c.3434A>G (p.Asp1145Gly)
n.3845A>G
n.3734A>G
5g.150393496A>TCA361739680TCOF1c.3611A>T (p.Asp1204Val)
c.3728A>T (p.Asp1243Val)
c.3383A>T (p.Asp1128Val)
c.3127A>T
c.3494A>T (p.Asp1165Val)
c.3725A>T (p.Asp1242Val)
c.3614A>T (p.Asp1205Val)
c.3497A>T (p.Asp1166Val)
n.3775A>T
c.343-3247A>T (n.343-3247A>T)
c.3839A>T (p.Asp1280Val)
c.3836A>T (p.Asp1279Val)
c.3608A>T (p.Asp1203Val)
c.3659A>T (p.Asp1220Val)
n.3843A>T
n.3732A>T
c.3722A>T (p.Asp1241Val)
c.3548A>T (p.Asp1183Val)
c.3434A>T (p.Asp1145Val)
n.3845A>T
n.3734A>T
5g.150393497T>ACA361739683TCOF1c.3612T>A (p.Asp1204Glu)
c.3729T>A (p.Asp1243Glu)
c.3384T>A (p.Asp1128Glu)
c.3128T>A
c.3495T>A (p.Asp1165Glu)
c.3726T>A (p.Asp1242Glu)
c.3615T>A (p.Asp1205Glu)
c.3498T>A (p.Asp1166Glu)
n.3776T>A
c.343-3246T>A (n.343-3246T>A)
c.3840T>A (p.Asp1280Glu)
c.3837T>A (p.Asp1279Glu)
c.3609T>A (p.Asp1203Glu)
c.3660T>A (p.Asp1220Glu)
n.3844T>A
n.3733T>A
c.3723T>A (p.Asp1241Glu)
c.3549T>A (p.Asp1183Glu)
c.3435T>A (p.Asp1145Glu)
n.3846T>A
n.3735T>A
5g.150393497T>CCA447158189TCOF1c.3612T>C (p.Asp1204=)
c.3729T>C (p.Asp1243=)
c.3384T>C (p.Asp1128=)
c.3128T>C
c.3495T>C (p.Asp1165=)
c.3726T>C (p.Asp1242=)
c.3615T>C (p.Asp1205=)
c.3498T>C (p.Asp1166=)
n.3776T>C
c.343-3246T>C (n.343-3246T>C)
c.3840T>C (p.Asp1280=)
c.3837T>C (p.Asp1279=)
c.3609T>C (p.Asp1203=)
c.3660T>C (p.Asp1220=)
n.3844T>C
n.3733T>C
c.3723T>C (p.Asp1241=)
c.3549T>C (p.Asp1183=)
c.3435T>C (p.Asp1145=)
n.3846T>C
n.3735T>C
5g.150393497T>GCA361739684TCOF1c.3612T>G (p.Asp1204Glu)
c.3729T>G (p.Asp1243Glu)
c.3384T>G (p.Asp1128Glu)
c.3128T>G
c.3495T>G (p.Asp1165Glu)
c.3726T>G (p.Asp1242Glu)
c.3615T>G (p.Asp1205Glu)
c.3498T>G (p.Asp1166Glu)
n.3776T>G
c.343-3246T>G (n.343-3246T>G)
c.3840T>G (p.Asp1280Glu)
c.3837T>G (p.Asp1279Glu)
c.3609T>G (p.Asp1203Glu)
c.3660T>G (p.Asp1220Glu)
n.3844T>G
n.3733T>G
c.3723T>G (p.Asp1241Glu)
c.3549T>G (p.Asp1183Glu)
c.3435T>G (p.Asp1145Glu)
n.3846T>G
n.3735T>G
 gnomAD v4
5g.150393498G>ACA361739690TCOF1c.3613G>A (p.Gly1205Ser)
c.3730G>A (p.Gly1244Ser)
c.3385G>A (p.Gly1129Ser)
c.3129G>A
c.3496G>A (p.Gly1166Ser)
c.3727G>A (p.Gly1243Ser)
c.3616G>A (p.Gly1206Ser)
c.3499G>A (p.Gly1167Ser)
n.3777G>A
c.343-3245G>A (n.343-3245G>A)
c.3841G>A (p.Gly1281Ser)
c.3838G>A (p.Gly1280Ser)
c.3610G>A (p.Gly1204Ser)
c.3661G>A (p.Gly1221Ser)
n.3845G>A
n.3734G>A
c.3724G>A (p.Gly1242Ser)
c.3550G>A (p.Gly1184Ser)
c.3436G>A (p.Gly1146Ser)
n.3847G>A
n.3736G>A
5g.150393498G>CCA361739692TCOF1c.3613G>C (p.Gly1205Arg)
c.3730G>C (p.Gly1244Arg)
c.3385G>C (p.Gly1129Arg)
c.3129G>C
c.3496G>C (p.Gly1166Arg)
c.3727G>C (p.Gly1243Arg)
c.3616G>C (p.Gly1206Arg)
c.3499G>C (p.Gly1167Arg)
n.3777G>C
c.343-3245G>C (n.343-3245G>C)
c.3841G>C (p.Gly1281Arg)
c.3838G>C (p.Gly1280Arg)
c.3610G>C (p.Gly1204Arg)
c.3661G>C (p.Gly1221Arg)
n.3845G>C
n.3734G>C
c.3724G>C (p.Gly1242Arg)
c.3550G>C (p.Gly1184Arg)
c.3436G>C (p.Gly1146Arg)
n.3847G>C
n.3736G>C
5g.150393498G>TCA361739694TCOF1c.3613G>T (p.Gly1205Cys)
c.3730G>T (p.Gly1244Cys)
c.3385G>T (p.Gly1129Cys)
c.3129G>T
c.3496G>T (p.Gly1166Cys)
c.3727G>T (p.Gly1243Cys)
c.3616G>T (p.Gly1206Cys)
c.3499G>T (p.Gly1167Cys)
n.3777G>T
c.343-3245G>T (n.343-3245G>T)
c.3841G>T (p.Gly1281Cys)
c.3838G>T (p.Gly1280Cys)
c.3610G>T (p.Gly1204Cys)
c.3661G>T (p.Gly1221Cys)
n.3845G>T
n.3734G>T
c.3724G>T (p.Gly1242Cys)
c.3550G>T (p.Gly1184Cys)
c.3436G>T (p.Gly1146Cys)
n.3847G>T
n.3736G>T
5g.150393499G>ACA129107280TCOF1c.3614G>A (p.Gly1205Asp)
c.3731G>A (p.Gly1244Asp)
c.3386G>A (p.Gly1129Asp)
c.3130G>A
c.3497G>A (p.Gly1166Asp)
c.3728G>A (p.Gly1243Asp)
c.3617G>A (p.Gly1206Asp)
c.3500G>A (p.Gly1167Asp)
n.3778G>A
c.343-3244G>A (n.343-3244G>A)
c.3842G>A (p.Gly1281Asp)
c.3839G>A (p.Gly1280Asp)
c.3611G>A (p.Gly1204Asp)
c.3662G>A (p.Gly1221Asp)
n.3846G>A
n.3735G>A
c.3725G>A (p.Gly1242Asp)
c.3551G>A (p.Gly1184Asp)
c.3437G>A (p.Gly1146Asp)
n.3848G>A
n.3737G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.150393499G>CCA361739702TCOF1c.3614G>C (p.Gly1205Ala)
c.3731G>C (p.Gly1244Ala)
c.3386G>C (p.Gly1129Ala)
c.3130G>C
c.3497G>C (p.Gly1166Ala)
c.3728G>C (p.Gly1243Ala)
c.3617G>C (p.Gly1206Ala)
c.3500G>C (p.Gly1167Ala)
n.3778G>C
c.343-3244G>C (n.343-3244G>C)
c.3842G>C (p.Gly1281Ala)
c.3839G>C (p.Gly1280Ala)
c.3611G>C (p.Gly1204Ala)
c.3662G>C (p.Gly1221Ala)
n.3846G>C
n.3735G>C
c.3725G>C (p.Gly1242Ala)
c.3551G>C (p.Gly1184Ala)
c.3437G>C (p.Gly1146Ala)
n.3848G>C
n.3737G>C
 gnomAD v4
5g.150393499G=CA1590926017TCOF1c.3614G= (p.Gly1205=)
c.3731G= (p.Gly1244=)
c.3386G= (p.Gly1129=)
c.3130G=
c.3497G= (p.Gly1166=)
c.3728G= (p.Gly1243=)
c.3617G= (p.Gly1206=)
c.3500G= (p.Gly1167=)
n.3778G=
c.343-3244G= (n.343-3244G=)
c.3842G= (p.Gly1281=)
c.3839G= (p.Gly1280=)
c.3611G= (p.Gly1204=)
c.3662G= (p.Gly1221=)
n.3846G=
n.3735G=
c.3725G= (p.Gly1242=)
c.3551G= (p.Gly1184=)
c.3437G= (p.Gly1146=)
n.3848G=
n.3737G=
5g.150393499G>TCA361739699TCOF1c.3614G>T (p.Gly1205Val)
c.3731G>T (p.Gly1244Val)
c.3386G>T (p.Gly1129Val)
c.3130G>T
c.3497G>T (p.Gly1166Val)
c.3728G>T (p.Gly1243Val)
c.3617G>T (p.Gly1206Val)
c.3500G>T (p.Gly1167Val)
n.3778G>T
c.343-3244G>T (n.343-3244G>T)
c.3842G>T (p.Gly1281Val)
c.3839G>T (p.Gly1280Val)
c.3611G>T (p.Gly1204Val)
c.3662G>T (p.Gly1221Val)
n.3846G>T
n.3735G>T
c.3725G>T (p.Gly1242Val)
c.3551G>T (p.Gly1184Val)
c.3437G>T (p.Gly1146Val)
n.3848G>T
n.3737G>T
5g.150393500C>ACA447158198TCOF1c.3615C>A (p.Gly1205=)
c.3732C>A (p.Gly1244=)
c.3387C>A (p.Gly1129=)
c.3131C>A
c.3498C>A (p.Gly1166=)
c.3729C>A (p.Gly1243=)
c.3618C>A (p.Gly1206=)
c.3501C>A (p.Gly1167=)
n.3779C>A
c.343-3243C>A (n.343-3243C>A)
c.3843C>A (p.Gly1281=)
c.3840C>A (p.Gly1280=)
c.3612C>A (p.Gly1204=)
c.3663C>A (p.Gly1221=)
n.3847C>A
n.3736C>A
c.3726C>A (p.Gly1242=)
c.3552C>A (p.Gly1184=)
c.3438C>A (p.Gly1146=)
n.3849C>A
n.3738C>A
5g.150393500C>GCA447158195TCOF1c.3615C>G (p.Gly1205=)
c.3732C>G (p.Gly1244=)
c.3387C>G (p.Gly1129=)
c.3131C>G
c.3498C>G (p.Gly1166=)
c.3729C>G (p.Gly1243=)
c.3618C>G (p.Gly1206=)
c.3501C>G (p.Gly1167=)
n.3779C>G
c.343-3243C>G (n.343-3243C>G)
c.3843C>G (p.Gly1281=)
c.3840C>G (p.Gly1280=)
c.3612C>G (p.Gly1204=)
c.3663C>G (p.Gly1221=)
n.3847C>G
n.3736C>G
c.3726C>G (p.Gly1242=)
c.3552C>G (p.Gly1184=)
c.3438C>G (p.Gly1146=)
n.3849C>G
n.3738C>G
5g.150393500C>TCA447158197TCOF1c.3615C>T (p.Gly1205=)
c.3732C>T (p.Gly1244=)
c.3387C>T (p.Gly1129=)
c.3131C>T
c.3498C>T (p.Gly1166=)
c.3729C>T (p.Gly1243=)
c.3618C>T (p.Gly1206=)
c.3501C>T (p.Gly1167=)
n.3779C>T
c.343-3243C>T (n.343-3243C>T)
c.3843C>T (p.Gly1281=)
c.3840C>T (p.Gly1280=)
c.3612C>T (p.Gly1204=)
c.3663C>T (p.Gly1221=)
n.3847C>T
n.3736C>T
c.3726C>T (p.Gly1242=)
c.3552C>T (p.Gly1184=)
c.3438C>T (p.Gly1146=)
n.3849C>T
n.3738C>T
5g.150393501A>CCA361739708TCOF1c.3616A>C (p.Lys1206Gln)
c.3733A>C (p.Lys1245Gln)
c.3388A>C (p.Lys1130Gln)
c.3132A>C
c.3499A>C (p.Lys1167Gln)
c.3730A>C (p.Lys1244Gln)
c.3619A>C (p.Lys1207Gln)
c.3502A>C (p.Lys1168Gln)
n.3780A>C
c.343-3242A>C (n.343-3242A>C)
c.3844A>C (p.Lys1282Gln)
c.3841A>C (p.Lys1281Gln)
c.3613A>C (p.Lys1205Gln)
c.3664A>C (p.Lys1222Gln)
n.3848A>C
n.3737A>C
c.3727A>C (p.Lys1243Gln)
c.3553A>C (p.Lys1185Gln)
c.3439A>C (p.Lys1147Gln)
n.3850A>C
n.3739A>C
5g.150393501A>GCA361739709TCOF1c.3616A>G (p.Lys1206Glu)
c.3733A>G (p.Lys1245Glu)
c.3388A>G (p.Lys1130Glu)
c.3132A>G
c.3499A>G (p.Lys1167Glu)
c.3730A>G (p.Lys1244Glu)
c.3619A>G (p.Lys1207Glu)
c.3502A>G (p.Lys1168Glu)
n.3780A>G
c.343-3242A>G (n.343-3242A>G)
c.3844A>G (p.Lys1282Glu)
c.3841A>G (p.Lys1281Glu)
c.3613A>G (p.Lys1205Glu)
c.3664A>G (p.Lys1222Glu)
n.3848A>G
n.3737A>G
c.3727A>G (p.Lys1243Glu)
c.3553A>G (p.Lys1185Glu)
c.3439A>G (p.Lys1147Glu)
n.3850A>G
n.3739A>G
5g.150393501A>TCA361739711TCOF1c.3616A>T (p.Lys1206Ter)
c.3733A>T (p.Lys1245Ter)
c.3388A>T (p.Lys1130Ter)
c.3132A>T
c.3499A>T (p.Lys1167Ter)
c.3730A>T (p.Lys1244Ter)
c.3619A>T (p.Lys1207Ter)
c.3502A>T (p.Lys1168Ter)
n.3780A>T
c.343-3242A>T (n.343-3242A>T)
c.3844A>T (p.Lys1282Ter)
c.3841A>T (p.Lys1281Ter)
c.3613A>T (p.Lys1205Ter)
c.3664A>T (p.Lys1222Ter)
n.3848A>T
n.3737A>T
c.3727A>T (p.Lys1243Ter)
c.3553A>T (p.Lys1185Ter)
c.3439A>T (p.Lys1147Ter)
n.3850A>T
n.3739A>T
5g.150393502A>CCA361739712TCOF1c.3617A>C (p.Lys1206Thr)
c.3734A>C (p.Lys1245Thr)
c.3389A>C (p.Lys1130Thr)
c.3133A>C
c.3500A>C (p.Lys1167Thr)
c.3731A>C (p.Lys1244Thr)
c.3620A>C (p.Lys1207Thr)
c.3503A>C (p.Lys1168Thr)
n.3781A>C
c.343-3241A>C (n.343-3241A>C)
c.3845A>C (p.Lys1282Thr)
c.3842A>C (p.Lys1281Thr)
c.3614A>C (p.Lys1205Thr)
c.3665A>C (p.Lys1222Thr)
n.3849A>C
n.3738A>C
c.3728A>C (p.Lys1243Thr)
c.3554A>C (p.Lys1185Thr)
c.3440A>C (p.Lys1147Thr)
n.3851A>C
n.3740A>C
5g.150393502A>GCA361739713TCOF1c.3617A>G (p.Lys1206Arg)
c.3734A>G (p.Lys1245Arg)
c.3389A>G (p.Lys1130Arg)
c.3133A>G
c.3500A>G (p.Lys1167Arg)
c.3731A>G (p.Lys1244Arg)
c.3620A>G (p.Lys1207Arg)
c.3503A>G (p.Lys1168Arg)
n.3781A>G
c.343-3241A>G (n.343-3241A>G)
c.3845A>G (p.Lys1282Arg)
c.3842A>G (p.Lys1281Arg)
c.3614A>G (p.Lys1205Arg)
c.3665A>G (p.Lys1222Arg)
n.3849A>G
n.3738A>G
c.3728A>G (p.Lys1243Arg)
c.3554A>G (p.Lys1185Arg)
c.3440A>G (p.Lys1147Arg)
n.3851A>G
n.3740A>G
5g.150393502A>TCA361739714TCOF1c.3617A>T (p.Lys1206Met)
c.3734A>T (p.Lys1245Met)
c.3389A>T (p.Lys1130Met)
c.3133A>T
c.3500A>T (p.Lys1167Met)
c.3731A>T (p.Lys1244Met)
c.3620A>T (p.Lys1207Met)
c.3503A>T (p.Lys1168Met)
n.3781A>T
c.343-3241A>T (n.343-3241A>T)
c.3845A>T (p.Lys1282Met)
c.3842A>T (p.Lys1281Met)
c.3614A>T (p.Lys1205Met)
c.3665A>T (p.Lys1222Met)
n.3849A>T
n.3738A>T
c.3728A>T (p.Lys1243Met)
c.3554A>T (p.Lys1185Met)
c.3440A>T (p.Lys1147Met)
n.3851A>T
n.3740A>T
5g.150393503G>ACA447158206TCOF1c.3618G>A (p.Lys1206=)
c.3735G>A (p.Lys1245=)
c.3390G>A (p.Lys1130=)
c.3134G>A
c.3501G>A (p.Lys1167=)
c.3732G>A (p.Lys1244=)
c.3621G>A (p.Lys1207=)
c.3504G>A (p.Lys1168=)
n.3782G>A
c.343-3240G>A (n.343-3240G>A)
c.3846G>A (p.Lys1282=)
c.3843G>A (p.Lys1281=)
c.3615G>A (p.Lys1205=)
c.3666G>A (p.Lys1222=)
n.3850G>A
n.3739G>A
c.3729G>A (p.Lys1243=)
c.3555G>A (p.Lys1185=)
c.3441G>A (p.Lys1147=)
n.3852G>A
n.3741G>A
5g.150393503G>CCA361739716TCOF1c.3618G>C (p.Lys1206Asn)
c.3735G>C (p.Lys1245Asn)
c.3390G>C (p.Lys1130Asn)
c.3134G>C
c.3501G>C (p.Lys1167Asn)
c.3732G>C (p.Lys1244Asn)
c.3621G>C (p.Lys1207Asn)
c.3504G>C (p.Lys1168Asn)
n.3782G>C
c.343-3240G>C (n.343-3240G>C)
c.3846G>C (p.Lys1282Asn)
c.3843G>C (p.Lys1281Asn)
c.3615G>C (p.Lys1205Asn)
c.3666G>C (p.Lys1222Asn)
n.3850G>C
n.3739G>C
c.3729G>C (p.Lys1243Asn)
c.3555G>C (p.Lys1185Asn)
c.3441G>C (p.Lys1147Asn)
n.3852G>C
n.3741G>C
5g.150393503G>TCA361739718TCOF1c.3618G>T (p.Lys1206Asn)
c.3735G>T (p.Lys1245Asn)
c.3390G>T (p.Lys1130Asn)
c.3134G>T
c.3501G>T (p.Lys1167Asn)
c.3732G>T (p.Lys1244Asn)
c.3621G>T (p.Lys1207Asn)
c.3504G>T (p.Lys1168Asn)
n.3782G>T
c.343-3240G>T (n.343-3240G>T)
c.3846G>T (p.Lys1282Asn)
c.3843G>T (p.Lys1281Asn)
c.3615G>T (p.Lys1205Asn)
c.3666G>T (p.Lys1222Asn)
n.3850G>T
n.3739G>T
c.3729G>T (p.Lys1243Asn)
c.3555G>T (p.Lys1185Asn)
c.3441G>T (p.Lys1147Asn)
n.3852G>T
n.3741G>T
5g.150393504C>ACA361739728TCOF1c.3619C>A (p.Gln1207Lys)
c.3736C>A (p.Gln1246Lys)
c.3391C>A (p.Gln1131Lys)
c.3135C>A
c.3502C>A (p.Gln1168Lys)
c.3733C>A (p.Gln1245Lys)
c.3622C>A (p.Gln1208Lys)
c.3505C>A (p.Gln1169Lys)
n.3783C>A
c.343-3239C>A (n.343-3239C>A)
c.3847C>A (p.Gln1283Lys)
c.3844C>A (p.Gln1282Lys)
c.3616C>A (p.Gln1206Lys)
c.3667C>A (p.Gln1223Lys)
n.3851C>A
n.3740C>A
c.3730C>A (p.Gln1244Lys)
c.3556C>A (p.Gln1186Lys)
c.3442C>A (p.Gln1148Lys)
n.3853C>A
n.3742C>A
5g.150393504C=CA1590926018TCOF1c.3619C= (p.Gln1207=)
c.3736C= (p.Gln1246=)
c.3391C= (p.Gln1131=)
c.3135C=
c.3502C= (p.Gln1168=)
c.3733C= (p.Gln1245=)
c.3622C= (p.Gln1208=)
c.3505C= (p.Gln1169=)
n.3783C=
c.343-3239C= (n.343-3239C=)
c.3847C= (p.Gln1283=)
c.3844C= (p.Gln1282=)
c.3616C= (p.Gln1206=)
c.3667C= (p.Gln1223=)
n.3851C=
n.3740C=
c.3730C= (p.Gln1244=)
c.3556C= (p.Gln1186=)
c.3442C= (p.Gln1148=)
n.3853C=
n.3742C=
5g.150393504C>GCA129107289TCOF1c.3619C>G (p.Gln1207Glu)
c.3736C>G (p.Gln1246Glu)
c.3391C>G (p.Gln1131Glu)
c.3135C>G
c.3502C>G (p.Gln1168Glu)
c.3733C>G (p.Gln1245Glu)
c.3622C>G (p.Gln1208Glu)
c.3505C>G (p.Gln1169Glu)
n.3783C>G
c.343-3239C>G (n.343-3239C>G)
c.3847C>G (p.Gln1283Glu)
c.3844C>G (p.Gln1282Glu)
c.3616C>G (p.Gln1206Glu)
c.3667C>G (p.Gln1223Glu)
n.3851C>G
n.3740C>G
c.3730C>G (p.Gln1244Glu)
c.3556C>G (p.Gln1186Glu)
c.3442C>G (p.Gln1148Glu)
n.3853C>G
n.3742C>G
 dbSNP
5g.150393504C>TCA129107292TCOF1c.3619C>T (p.Gln1207Ter)
c.3736C>T (p.Gln1246Ter)
c.3391C>T (p.Gln1131Ter)
c.3135C>T
c.3502C>T (p.Gln1168Ter)
c.3733C>T (p.Gln1245Ter)
c.3622C>T (p.Gln1208Ter)
c.3505C>T (p.Gln1169Ter)
n.3783C>T
c.343-3239C>T (n.343-3239C>T)
c.3847C>T (p.Gln1283Ter)
c.3844C>T (p.Gln1282Ter)
c.3616C>T (p.Gln1206Ter)
c.3667C>T (p.Gln1223Ter)
n.3851C>T
n.3740C>T
c.3730C>T (p.Gln1244Ter)
c.3556C>T (p.Gln1186Ter)
c.3442C>T (p.Gln1148Ter)
n.3853C>T
n.3742C>T
 dbSNP
5g.150393505A>CCA361739734TCOF1c.3620A>C (p.Gln1207Pro)
c.3737A>C (p.Gln1246Pro)
c.3392A>C (p.Gln1131Pro)
c.3136A>C
c.3503A>C (p.Gln1168Pro)
c.3734A>C (p.Gln1245Pro)
c.3623A>C (p.Gln1208Pro)
c.3506A>C (p.Gln1169Pro)
n.3784A>C
c.343-3238A>C (n.343-3238A>C)
c.3848A>C (p.Gln1283Pro)
c.3845A>C (p.Gln1282Pro)
c.3617A>C (p.Gln1206Pro)
c.3668A>C (p.Gln1223Pro)
n.3852A>C
n.3741A>C
c.3731A>C (p.Gln1244Pro)
c.3557A>C (p.Gln1186Pro)
c.3443A>C (p.Gln1148Pro)
n.3854A>C
n.3743A>C
5g.150393505A>GCA361739737TCOF1c.3620A>G (p.Gln1207Arg)
c.3737A>G (p.Gln1246Arg)
c.3392A>G (p.Gln1131Arg)
c.3136A>G
c.3503A>G (p.Gln1168Arg)
c.3734A>G (p.Gln1245Arg)
c.3623A>G (p.Gln1208Arg)
c.3506A>G (p.Gln1169Arg)
n.3784A>G
c.343-3238A>G (n.343-3238A>G)
c.3848A>G (p.Gln1283Arg)
c.3845A>G (p.Gln1282Arg)
c.3617A>G (p.Gln1206Arg)
c.3668A>G (p.Gln1223Arg)
n.3852A>G
n.3741A>G
c.3731A>G (p.Gln1244Arg)
c.3557A>G (p.Gln1186Arg)
c.3443A>G (p.Gln1148Arg)
n.3854A>G
n.3743A>G
5g.150393505A>TCA361739735TCOF1c.3620A>T (p.Gln1207Leu)
c.3737A>T (p.Gln1246Leu)
c.3392A>T (p.Gln1131Leu)
c.3136A>T
c.3503A>T (p.Gln1168Leu)
c.3734A>T (p.Gln1245Leu)
c.3623A>T (p.Gln1208Leu)
c.3506A>T (p.Gln1169Leu)
n.3784A>T
c.343-3238A>T (n.343-3238A>T)
c.3848A>T (p.Gln1283Leu)
c.3845A>T (p.Gln1282Leu)
c.3617A>T (p.Gln1206Leu)
c.3668A>T (p.Gln1223Leu)
n.3852A>T
n.3741A>T
c.3731A>T (p.Gln1244Leu)
c.3557A>T (p.Gln1186Leu)
c.3443A>T (p.Gln1148Leu)
n.3854A>T
n.3743A>T
5g.150393506G>ACA3511583TCOF1c.3621G>A (p.Gln1207=)
c.3738G>A (p.Gln1246=)
c.3393G>A (p.Gln1131=)
c.3137G>A
c.3504G>A (p.Gln1168=)
c.3735G>A (p.Gln1245=)
c.3624G>A (p.Gln1208=)
c.3507G>A (p.Gln1169=)
n.3785G>A
c.343-3237G>A (n.343-3237G>A)
c.3849G>A (p.Gln1283=)
c.3846G>A (p.Gln1282=)
c.3618G>A (p.Gln1206=)
c.3669G>A (p.Gln1223=)
n.3853G>A
n.3742G>A
c.3732G>A (p.Gln1244=)
c.3558G>A (p.Gln1186=)
c.3444G>A (p.Gln1148=)
n.3855G>A
n.3744G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393506G>CCA361739743TCOF1c.3621G>C (p.Gln1207His)
c.3738G>C (p.Gln1246His)
c.3393G>C (p.Gln1131His)
c.3137G>C
c.3504G>C (p.Gln1168His)
c.3735G>C (p.Gln1245His)
c.3624G>C (p.Gln1208His)
c.3507G>C (p.Gln1169His)
n.3785G>C
c.343-3237G>C (n.343-3237G>C)
c.3849G>C (p.Gln1283His)
c.3846G>C (p.Gln1282His)
c.3618G>C (p.Gln1206His)
c.3669G>C (p.Gln1223His)
n.3853G>C
n.3742G>C
c.3732G>C (p.Gln1244His)
c.3558G>C (p.Gln1186His)
c.3444G>C (p.Gln1148His)
n.3855G>C
n.3744G>C
5g.150393506G=CA1590926019TCOF1c.3621G= (p.Gln1207=)
c.3738G= (p.Gln1246=)
c.3393G= (p.Gln1131=)
c.3137G=
c.3504G= (p.Gln1168=)
c.3735G= (p.Gln1245=)
c.3624G= (p.Gln1208=)
c.3507G= (p.Gln1169=)
n.3785G=
c.343-3237G= (n.343-3237G=)
c.3849G= (p.Gln1283=)
c.3846G= (p.Gln1282=)
c.3618G= (p.Gln1206=)
c.3669G= (p.Gln1223=)
n.3853G=
n.3742G=
c.3732G= (p.Gln1244=)
c.3558G= (p.Gln1186=)
c.3444G= (p.Gln1148=)
n.3855G=
n.3744G=
5g.150393506G>TCA361739745TCOF1c.3621G>T (p.Gln1207His)
c.3738G>T (p.Gln1246His)
c.3393G>T (p.Gln1131His)
c.3137G>T
c.3504G>T (p.Gln1168His)
c.3735G>T (p.Gln1245His)
c.3624G>T (p.Gln1208His)
c.3507G>T (p.Gln1169His)
n.3785G>T
c.343-3237G>T (n.343-3237G>T)
c.3849G>T (p.Gln1283His)
c.3846G>T (p.Gln1282His)
c.3618G>T (p.Gln1206His)
c.3669G>T (p.Gln1223His)
n.3853G>T
n.3742G>T
c.3732G>T (p.Gln1244His)
c.3558G>T (p.Gln1186His)
c.3444G>T (p.Gln1148His)
n.3855G>T
n.3744G>T
5g.150393507G>ACA361739749TCOF1c.3622G>A (p.Glu1208Lys)
c.3739G>A (p.Glu1247Lys)
c.3394G>A (p.Glu1132Lys)
c.3138G>A
c.3505G>A (p.Glu1169Lys)
c.3736G>A (p.Glu1246Lys)
c.3625G>A (p.Glu1209Lys)
c.3508G>A (p.Glu1170Lys)
n.3786G>A
c.343-3236G>A (n.343-3236G>A)
c.3850G>A (p.Glu1284Lys)
c.3847G>A (p.Glu1283Lys)
c.3619G>A (p.Glu1207Lys)
c.3670G>A (p.Glu1224Lys)
n.3854G>A
n.3743G>A
c.3733G>A (p.Glu1245Lys)
c.3559G>A (p.Glu1187Lys)
c.3445G>A (p.Glu1149Lys)
n.3856G>A
n.3745G>A
5g.150393507G>CCA361739752TCOF1c.3622G>C (p.Glu1208Gln)
c.3739G>C (p.Glu1247Gln)
c.3394G>C (p.Glu1132Gln)
c.3138G>C
c.3505G>C (p.Glu1169Gln)
c.3736G>C (p.Glu1246Gln)
c.3625G>C (p.Glu1209Gln)
c.3508G>C (p.Glu1170Gln)
n.3786G>C
c.343-3236G>C (n.343-3236G>C)
c.3850G>C (p.Glu1284Gln)
c.3847G>C (p.Glu1283Gln)
c.3619G>C (p.Glu1207Gln)
c.3670G>C (p.Glu1224Gln)
n.3854G>C
n.3743G>C
c.3733G>C (p.Glu1245Gln)
c.3559G>C (p.Glu1187Gln)
c.3445G>C (p.Glu1149Gln)
n.3856G>C
n.3745G>C
5g.150393507G>TCA361739754TCOF1c.3622G>T (p.Glu1208Ter)
c.3739G>T (p.Glu1247Ter)
c.3394G>T (p.Glu1132Ter)
c.3138G>T
c.3505G>T (p.Glu1169Ter)
c.3736G>T (p.Glu1246Ter)
c.3625G>T (p.Glu1209Ter)
c.3508G>T (p.Glu1170Ter)
n.3786G>T
c.343-3236G>T (n.343-3236G>T)
c.3850G>T (p.Glu1284Ter)
c.3847G>T (p.Glu1283Ter)
c.3619G>T (p.Glu1207Ter)
c.3670G>T (p.Glu1224Ter)
n.3854G>T
n.3743G>T
c.3733G>T (p.Glu1245Ter)
c.3559G>T (p.Glu1187Ter)
c.3445G>T (p.Glu1149Ter)
n.3856G>T
n.3745G>T
5g.150393508A>CCA361739757TCOF1c.3623A>C (p.Glu1208Ala)
c.3740A>C (p.Glu1247Ala)
c.3395A>C (p.Glu1132Ala)
c.3139A>C
c.3506A>C (p.Glu1169Ala)
c.3737A>C (p.Glu1246Ala)
c.3626A>C (p.Glu1209Ala)
c.3509A>C (p.Glu1170Ala)
n.3787A>C
c.343-3235A>C (n.343-3235A>C)
c.3851A>C (p.Glu1284Ala)
c.3848A>C (p.Glu1283Ala)
c.3620A>C (p.Glu1207Ala)
c.3671A>C (p.Glu1224Ala)
n.3855A>C
n.3744A>C
c.3734A>C (p.Glu1245Ala)
c.3560A>C (p.Glu1187Ala)
c.3446A>C (p.Glu1149Ala)
n.3857A>C
n.3746A>C
5g.150393508A>GCA361739760TCOF1c.3623A>G (p.Glu1208Gly)
c.3740A>G (p.Glu1247Gly)
c.3395A>G (p.Glu1132Gly)
c.3139A>G
c.3506A>G (p.Glu1169Gly)
c.3737A>G (p.Glu1246Gly)
c.3626A>G (p.Glu1209Gly)
c.3509A>G (p.Glu1170Gly)
n.3787A>G
c.343-3235A>G (n.343-3235A>G)
c.3851A>G (p.Glu1284Gly)
c.3848A>G (p.Glu1283Gly)
c.3620A>G (p.Glu1207Gly)
c.3671A>G (p.Glu1224Gly)
n.3855A>G
n.3744A>G
c.3734A>G (p.Glu1245Gly)
c.3560A>G (p.Glu1187Gly)
c.3446A>G (p.Glu1149Gly)
n.3857A>G
n.3746A>G
5g.150393508A>TCA361739762TCOF1c.3623A>T (p.Glu1208Val)
c.3740A>T (p.Glu1247Val)
c.3395A>T (p.Glu1132Val)
c.3139A>T
c.3506A>T (p.Glu1169Val)
c.3737A>T (p.Glu1246Val)
c.3626A>T (p.Glu1209Val)
c.3509A>T (p.Glu1170Val)
n.3787A>T
c.343-3235A>T (n.343-3235A>T)
c.3851A>T (p.Glu1284Val)
c.3848A>T (p.Glu1283Val)
c.3620A>T (p.Glu1207Val)
c.3671A>T (p.Glu1224Val)
n.3855A>T
n.3744A>T
c.3734A>T (p.Glu1245Val)
c.3560A>T (p.Glu1187Val)
c.3446A>T (p.Glu1149Val)
n.3857A>T
n.3746A>T
5g.150393509G>ACA447158225TCOF1c.3624G>A (p.Glu1208=)
c.3741G>A (p.Glu1247=)
c.3396G>A (p.Glu1132=)
c.3140G>A
c.3507G>A (p.Glu1169=)
c.3738G>A (p.Glu1246=)
c.3627G>A (p.Glu1209=)
c.3510G>A (p.Glu1170=)
n.3788G>A
c.343-3234G>A (n.343-3234G>A)
c.3852G>A (p.Glu1284=)
c.3849G>A (p.Glu1283=)
c.3621G>A (p.Glu1207=)
c.3672G>A (p.Glu1224=)
n.3856G>A
n.3745G>A
c.3735G>A (p.Glu1245=)
c.3561G>A (p.Glu1187=)
c.3447G>A (p.Glu1149=)
n.3858G>A
n.3747G>A
 gnomAD v4 COSMIC COSMIC
5g.150393509G>CCA361739765TCOF1c.3624G>C (p.Glu1208Asp)
c.3741G>C (p.Glu1247Asp)
c.3396G>C (p.Glu1132Asp)
c.3140G>C
c.3507G>C (p.Glu1169Asp)
c.3738G>C (p.Glu1246Asp)
c.3627G>C (p.Glu1209Asp)
c.3510G>C (p.Glu1170Asp)
n.3788G>C
c.343-3234G>C (n.343-3234G>C)
c.3852G>C (p.Glu1284Asp)
c.3849G>C (p.Glu1283Asp)
c.3621G>C (p.Glu1207Asp)
c.3672G>C (p.Glu1224Asp)
n.3856G>C
n.3745G>C
c.3735G>C (p.Glu1245Asp)
c.3561G>C (p.Glu1187Asp)
c.3447G>C (p.Glu1149Asp)
n.3858G>C
n.3747G>C
5g.150393509G>TCA361739767TCOF1c.3624G>T (p.Glu1208Asp)
c.3741G>T (p.Glu1247Asp)
c.3396G>T (p.Glu1132Asp)
c.3140G>T
c.3507G>T (p.Glu1169Asp)
c.3738G>T (p.Glu1246Asp)
c.3627G>T (p.Glu1209Asp)
c.3510G>T (p.Glu1170Asp)
n.3788G>T
c.343-3234G>T (n.343-3234G>T)
c.3852G>T (p.Glu1284Asp)
c.3849G>T (p.Glu1283Asp)
c.3621G>T (p.Glu1207Asp)
c.3672G>T (p.Glu1224Asp)
n.3856G>T
n.3745G>T
c.3735G>T (p.Glu1245Asp)
c.3561G>T (p.Glu1187Asp)
c.3447G>T (p.Glu1149Asp)
n.3858G>T
n.3747G>T
5g.150393510G>ACA361739774TCOF1c.3625G>A (p.Ala1209Thr)
c.3742G>A (p.Ala1248Thr)
c.3397G>A (p.Ala1133Thr)
c.3141G>A
c.3508G>A (p.Ala1170Thr)
c.3739G>A (p.Ala1247Thr)
c.3628G>A (p.Ala1210Thr)
c.3511G>A (p.Ala1171Thr)
n.3789G>A
c.343-3233G>A (n.343-3233G>A)
c.3853G>A (p.Ala1285Thr)
c.3850G>A (p.Ala1284Thr)
c.3622G>A (p.Ala1208Thr)
c.3673G>A (p.Ala1225Thr)
n.3857G>A
n.3746G>A
c.3736G>A (p.Ala1246Thr)
c.3562G>A (p.Ala1188Thr)
c.3448G>A (p.Ala1150Thr)
n.3859G>A
n.3748G>A
5g.150393510G>CCA361739770TCOF1c.3625G>C (p.Ala1209Pro)
c.3742G>C (p.Ala1248Pro)
c.3397G>C (p.Ala1133Pro)
c.3141G>C
c.3508G>C (p.Ala1170Pro)
c.3739G>C (p.Ala1247Pro)
c.3628G>C (p.Ala1210Pro)
c.3511G>C (p.Ala1171Pro)
n.3789G>C
c.343-3233G>C (n.343-3233G>C)
c.3853G>C (p.Ala1285Pro)
c.3850G>C (p.Ala1284Pro)
c.3622G>C (p.Ala1208Pro)
c.3673G>C (p.Ala1225Pro)
n.3857G>C
n.3746G>C
c.3736G>C (p.Ala1246Pro)
c.3562G>C (p.Ala1188Pro)
c.3448G>C (p.Ala1150Pro)
n.3859G>C
n.3748G>C
5g.150393510G>TCA361739771TCOF1c.3625G>T (p.Ala1209Ser)
c.3742G>T (p.Ala1248Ser)
c.3397G>T (p.Ala1133Ser)
c.3141G>T
c.3508G>T (p.Ala1170Ser)
c.3739G>T (p.Ala1247Ser)
c.3628G>T (p.Ala1210Ser)
c.3511G>T (p.Ala1171Ser)
n.3789G>T
c.343-3233G>T (n.343-3233G>T)
c.3853G>T (p.Ala1285Ser)
c.3850G>T (p.Ala1284Ser)
c.3622G>T (p.Ala1208Ser)
c.3673G>T (p.Ala1225Ser)
n.3857G>T
n.3746G>T
c.3736G>T (p.Ala1246Ser)
c.3562G>T (p.Ala1188Ser)
c.3448G>T (p.Ala1150Ser)
n.3859G>T
n.3748G>T
5g.150393511C>ACA361739777TCOF1c.3626C>A (p.Ala1209Glu)
c.3743C>A (p.Ala1248Glu)
c.3398C>A (p.Ala1133Glu)
c.3142C>A
c.3509C>A (p.Ala1170Glu)
c.3740C>A (p.Ala1247Glu)
c.3629C>A (p.Ala1210Glu)
c.3512C>A (p.Ala1171Glu)
n.3790C>A
c.343-3232C>A (n.343-3232C>A)
c.3854C>A (p.Ala1285Glu)
c.3851C>A (p.Ala1284Glu)
c.3623C>A (p.Ala1208Glu)
c.3674C>A (p.Ala1225Glu)
n.3858C>A
n.3747C>A
c.3737C>A (p.Ala1246Glu)
c.3563C>A (p.Ala1188Glu)
c.3449C>A (p.Ala1150Glu)
n.3860C>A
n.3749C>A
5g.150393511C=CA1590926020TCOF1c.3626C= (p.Ala1209=)
c.3743C= (p.Ala1248=)
c.3398C= (p.Ala1133=)
c.3142C=
c.3509C= (p.Ala1170=)
c.3740C= (p.Ala1247=)
c.3629C= (p.Ala1210=)
c.3512C= (p.Ala1171=)
n.3790C=
c.343-3232C= (n.343-3232C=)
c.3854C= (p.Ala1285=)
c.3851C= (p.Ala1284=)
c.3623C= (p.Ala1208=)
c.3674C= (p.Ala1225=)
n.3858C=
n.3747C=
c.3737C= (p.Ala1246=)
c.3563C= (p.Ala1188=)
c.3449C= (p.Ala1150=)
n.3860C=
n.3749C=
5g.150393511C>GCA3511584TCOF1c.3626C>G (p.Ala1209Gly)
c.3743C>G (p.Ala1248Gly)
c.3398C>G (p.Ala1133Gly)
c.3142C>G
c.3509C>G (p.Ala1170Gly)
c.3740C>G (p.Ala1247Gly)
c.3629C>G (p.Ala1210Gly)
c.3512C>G (p.Ala1171Gly)
n.3790C>G
c.343-3232C>G (n.343-3232C>G)
c.3854C>G (p.Ala1285Gly)
c.3851C>G (p.Ala1284Gly)
c.3623C>G (p.Ala1208Gly)
c.3674C>G (p.Ala1225Gly)
n.3858C>G
n.3747C>G
c.3737C>G (p.Ala1246Gly)
c.3563C>G (p.Ala1188Gly)
c.3449C>G (p.Ala1150Gly)
n.3860C>G
n.3749C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.150393511C>TCA361739781TCOF1c.3626C>T (p.Ala1209Val)
c.3743C>T (p.Ala1248Val)
c.3398C>T (p.Ala1133Val)
c.3142C>T
c.3509C>T (p.Ala1170Val)
c.3740C>T (p.Ala1247Val)
c.3629C>T (p.Ala1210Val)
c.3512C>T (p.Ala1171Val)
n.3790C>T
c.343-3232C>T (n.343-3232C>T)
c.3854C>T (p.Ala1285Val)
c.3851C>T (p.Ala1284Val)
c.3623C>T (p.Ala1208Val)
c.3674C>T (p.Ala1225Val)
n.3858C>T
n.3747C>T
c.3737C>T (p.Ala1246Val)
c.3563C>T (p.Ala1188Val)
c.3449C>T (p.Ala1150Val)
n.3860C>T
n.3749C>T
5g.150393512A>CCA447158235TCOF1c.3627A>C (p.Ala1209=)
c.3744A>C (p.Ala1248=)
c.3399A>C (p.Ala1133=)
c.3143A>C
c.3510A>C (p.Ala1170=)
c.3741A>C (p.Ala1247=)
c.3630A>C (p.Ala1210=)
c.3513A>C (p.Ala1171=)
n.3791A>C
c.343-3231A>C (n.343-3231A>C)
c.3855A>C (p.Ala1285=)
c.3852A>C (p.Ala1284=)
c.3624A>C (p.Ala1208=)
c.3675A>C (p.Ala1225=)
n.3859A>C
n.3748A>C
c.3738A>C (p.Ala1246=)
c.3564A>C (p.Ala1188=)
c.3450A>C (p.Ala1150=)
n.3861A>C
n.3750A>C
5g.150393512A>GCA447158237TCOF1c.3627A>G (p.Ala1209=)
c.3744A>G (p.Ala1248=)
c.3399A>G (p.Ala1133=)
c.3143A>G
c.3510A>G (p.Ala1170=)
c.3741A>G (p.Ala1247=)
c.3630A>G (p.Ala1210=)
c.3513A>G (p.Ala1171=)
n.3791A>G
c.343-3231A>G (n.343-3231A>G)
c.3855A>G (p.Ala1285=)
c.3852A>G (p.Ala1284=)
c.3624A>G (p.Ala1208=)
c.3675A>G (p.Ala1225=)
n.3859A>G
n.3748A>G
c.3738A>G (p.Ala1246=)
c.3564A>G (p.Ala1188=)
c.3450A>G (p.Ala1150=)
n.3861A>G
n.3750A>G
5g.150393512A>TCA447158236TCOF1c.3627A>T (p.Ala1209=)
c.3744A>T (p.Ala1248=)
c.3399A>T (p.Ala1133=)
c.3143A>T
c.3510A>T (p.Ala1170=)
c.3741A>T (p.Ala1247=)
c.3630A>T (p.Ala1210=)
c.3513A>T (p.Ala1171=)
n.3791A>T
c.343-3231A>T (n.343-3231A>T)
c.3855A>T (p.Ala1285=)
c.3852A>T (p.Ala1284=)
c.3624A>T (p.Ala1208=)
c.3675A>T (p.Ala1225=)
n.3859A>T
n.3748A>T
c.3738A>T (p.Ala1246=)
c.3564A>T (p.Ala1188=)
c.3450A>T (p.Ala1150=)
n.3861A>T
n.3750A>T
5g.150393513A>CCA361739784TCOF1c.3628A>C (p.Lys1210Gln)
c.3745A>C (p.Lys1249Gln)
c.3400A>C (p.Lys1134Gln)
c.3144A>C
c.3511A>C (p.Lys1171Gln)
c.3742A>C (p.Lys1248Gln)
c.3631A>C (p.Lys1211Gln)
c.3514A>C (p.Lys1172Gln)
n.3792A>C
c.343-3230A>C (n.343-3230A>C)
c.3856A>C (p.Lys1286Gln)
c.3853A>C (p.Lys1285Gln)
c.3625A>C (p.Lys1209Gln)
c.3676A>C (p.Lys1226Gln)
n.3860A>C
n.3749A>C
c.3739A>C (p.Lys1247Gln)
c.3565A>C (p.Lys1189Gln)
c.3451A>C (p.Lys1151Gln)
n.3862A>C
n.3751A>C
5g.150393513A>GCA361739786TCOF1c.3628A>G (p.Lys1210Glu)
c.3745A>G (p.Lys1249Glu)
c.3400A>G (p.Lys1134Glu)
c.3144A>G
c.3511A>G (p.Lys1171Glu)
c.3742A>G (p.Lys1248Glu)
c.3631A>G (p.Lys1211Glu)
c.3514A>G (p.Lys1172Glu)
n.3792A>G
c.343-3230A>G (n.343-3230A>G)
c.3856A>G (p.Lys1286Glu)
c.3853A>G (p.Lys1285Glu)
c.3625A>G (p.Lys1209Glu)
c.3676A>G (p.Lys1226Glu)
n.3860A>G
n.3749A>G
c.3739A>G (p.Lys1247Glu)
c.3565A>G (p.Lys1189Glu)
c.3451A>G (p.Lys1151Glu)
n.3862A>G
n.3751A>G
 gnomAD v4
5g.150393513A>TCA361739788TCOF1c.3628A>T (p.Lys1210Ter)
c.3745A>T (p.Lys1249Ter)
c.3400A>T (p.Lys1134Ter)
c.3144A>T
c.3511A>T (p.Lys1171Ter)
c.3742A>T (p.Lys1248Ter)
c.3631A>T (p.Lys1211Ter)
c.3514A>T (p.Lys1172Ter)
n.3792A>T
c.343-3230A>T (n.343-3230A>T)
c.3856A>T (p.Lys1286Ter)
c.3853A>T (p.Lys1285Ter)
c.3625A>T (p.Lys1209Ter)
c.3676A>T (p.Lys1226Ter)
n.3860A>T
n.3749A>T
c.3739A>T (p.Lys1247Ter)
c.3565A>T (p.Lys1189Ter)
c.3451A>T (p.Lys1151Ter)
n.3862A>T
n.3751A>T
5g.150393514A>CCA361739791TCOF1c.3629A>C (p.Lys1210Thr)
c.3746A>C (p.Lys1249Thr)
c.3401A>C (p.Lys1134Thr)
c.3145A>C
c.3512A>C (p.Lys1171Thr)
c.3743A>C (p.Lys1248Thr)
c.3632A>C (p.Lys1211Thr)
c.3515A>C (p.Lys1172Thr)
n.3793A>C
c.343-3229A>C (n.343-3229A>C)
c.3857A>C (p.Lys1286Thr)
c.3854A>C (p.Lys1285Thr)
c.3626A>C (p.Lys1209Thr)
c.3677A>C (p.Lys1226Thr)
n.3861A>C
n.3750A>C
c.3740A>C (p.Lys1247Thr)
c.3566A>C (p.Lys1189Thr)
c.3452A>C (p.Lys1151Thr)
n.3863A>C
n.3752A>C
5g.150393514A>GCA361739793TCOF1c.3629A>G (p.Lys1210Arg)
c.3746A>G (p.Lys1249Arg)
c.3401A>G (p.Lys1134Arg)
c.3145A>G
c.3512A>G (p.Lys1171Arg)
c.3743A>G (p.Lys1248Arg)
c.3632A>G (p.Lys1211Arg)
c.3515A>G (p.Lys1172Arg)
n.3793A>G
c.343-3229A>G (n.343-3229A>G)
c.3857A>G (p.Lys1286Arg)
c.3854A>G (p.Lys1285Arg)
c.3626A>G (p.Lys1209Arg)
c.3677A>G (p.Lys1226Arg)
n.3861A>G
n.3750A>G
c.3740A>G (p.Lys1247Arg)
c.3566A>G (p.Lys1189Arg)
c.3452A>G (p.Lys1151Arg)
n.3863A>G
n.3752A>G
5g.150393514A>TCA361739795TCOF1c.3629A>T (p.Lys1210Met)
c.3746A>T (p.Lys1249Met)
c.3401A>T (p.Lys1134Met)
c.3145A>T
c.3512A>T (p.Lys1171Met)
c.3743A>T (p.Lys1248Met)
c.3632A>T (p.Lys1211Met)
c.3515A>T (p.Lys1172Met)
n.3793A>T
c.343-3229A>T (n.343-3229A>T)
c.3857A>T (p.Lys1286Met)
c.3854A>T (p.Lys1285Met)
c.3626A>T (p.Lys1209Met)
c.3677A>T (p.Lys1226Met)
n.3861A>T
n.3750A>T
c.3740A>T (p.Lys1247Met)
c.3566A>T (p.Lys1189Met)
c.3452A>T (p.Lys1151Met)
n.3863A>T
n.3752A>T
5g.150393515G>ACA447158240TCOF1c.3630G>A (p.Lys1210=)
c.3747G>A (p.Lys1249=)
c.3402G>A (p.Lys1134=)
c.3146G>A
c.3513G>A (p.Lys1171=)
c.3744G>A (p.Lys1248=)
c.3633G>A (p.Lys1211=)
c.3516G>A (p.Lys1172=)
n.3794G>A
c.343-3228G>A (n.343-3228G>A)
c.3858G>A (p.Lys1286=)
c.3855G>A (p.Lys1285=)
c.3627G>A (p.Lys1209=)
c.3678G>A (p.Lys1226=)
n.3862G>A
n.3751G>A
c.3741G>A (p.Lys1247=)
c.3567G>A (p.Lys1189=)
c.3453G>A (p.Lys1151=)
n.3864G>A
n.3753G>A
 gnomAD v4
5g.150393515G>CCA361739796TCOF1c.3630G>C (p.Lys1210Asn)
c.3747G>C (p.Lys1249Asn)
c.3402G>C (p.Lys1134Asn)
c.3146G>C
c.3513G>C (p.Lys1171Asn)
c.3744G>C (p.Lys1248Asn)
c.3633G>C (p.Lys1211Asn)
c.3516G>C (p.Lys1172Asn)
n.3794G>C
c.343-3228G>C (n.343-3228G>C)
c.3858G>C (p.Lys1286Asn)
c.3855G>C (p.Lys1285Asn)
c.3627G>C (p.Lys1209Asn)
c.3678G>C (p.Lys1226Asn)
n.3862G>C
n.3751G>C
c.3741G>C (p.Lys1247Asn)
c.3567G>C (p.Lys1189Asn)
c.3453G>C (p.Lys1151Asn)
n.3864G>C
n.3753G>C
5g.150393515G>TCA361739799TCOF1c.3630G>T (p.Lys1210Asn)
c.3747G>T (p.Lys1249Asn)
c.3402G>T (p.Lys1134Asn)
c.3146G>T
c.3513G>T (p.Lys1171Asn)
c.3744G>T (p.Lys1248Asn)
c.3633G>T (p.Lys1211Asn)
c.3516G>T (p.Lys1172Asn)
n.3794G>T
c.343-3228G>T (n.343-3228G>T)
c.3858G>T (p.Lys1286Asn)
c.3855G>T (p.Lys1285Asn)
c.3627G>T (p.Lys1209Asn)
c.3678G>T (p.Lys1226Asn)
n.3862G>T
n.3751G>T
c.3741G>T (p.Lys1247Asn)
c.3567G>T (p.Lys1189Asn)
c.3453G>T (p.Lys1151Asn)
n.3864G>T
n.3753G>T
5g.150393516C>ACA361739804TCOF1c.3631C>A (p.Pro1211Thr)
c.3748C>A (p.Pro1250Thr)
c.3403C>A (p.Pro1135Thr)
c.3147C>A
c.3514C>A (p.Pro1172Thr)
c.3745C>A (p.Pro1249Thr)
c.3634C>A (p.Pro1212Thr)
c.3517C>A (p.Pro1173Thr)
n.3795C>A
c.343-3227C>A (n.343-3227C>A)
c.3859C>A (p.Pro1287Thr)
c.3856C>A (p.Pro1286Thr)
c.3628C>A (p.Pro1210Thr)
c.3679C>A (p.Pro1227Thr)
n.3863C>A
n.3752C>A
c.3742C>A (p.Pro1248Thr)
c.3568C>A (p.Pro1190Thr)
c.3454C>A (p.Pro1152Thr)
n.3865C>A
n.3754C>A
5g.150393516C>GCA361739807TCOF1c.3631C>G (p.Pro1211Ala)
c.3748C>G (p.Pro1250Ala)
c.3403C>G (p.Pro1135Ala)
c.3147C>G
c.3514C>G (p.Pro1172Ala)
c.3745C>G (p.Pro1249Ala)
c.3634C>G (p.Pro1212Ala)
c.3517C>G (p.Pro1173Ala)
n.3795C>G
c.343-3227C>G (n.343-3227C>G)
c.3859C>G (p.Pro1287Ala)
c.3856C>G (p.Pro1286Ala)
c.3628C>G (p.Pro1210Ala)
c.3679C>G (p.Pro1227Ala)
n.3863C>G
n.3752C>G
c.3742C>G (p.Pro1248Ala)
c.3568C>G (p.Pro1190Ala)
c.3454C>G (p.Pro1152Ala)
n.3865C>G
n.3754C>G
5g.150393516C>TCA361739803TCOF1c.3631C>T (p.Pro1211Ser)
c.3748C>T (p.Pro1250Ser)
c.3403C>T (p.Pro1135Ser)
c.3147C>T
c.3514C>T (p.Pro1172Ser)
c.3745C>T (p.Pro1249Ser)
c.3634C>T (p.Pro1212Ser)
c.3517C>T (p.Pro1173Ser)
n.3795C>T
c.343-3227C>T (n.343-3227C>T)
c.3859C>T (p.Pro1287Ser)
c.3856C>T (p.Pro1286Ser)
c.3628C>T (p.Pro1210Ser)
c.3679C>T (p.Pro1227Ser)
n.3863C>T
n.3752C>T
c.3742C>T (p.Pro1248Ser)
c.3568C>T (p.Pro1190Ser)
c.3454C>T (p.Pro1152Ser)
n.3865C>T
n.3754C>T
5g.150393516_150393518delinsACA2695205536TCOF1c.3631_3633delinsA (p.Pro1211ThrfsTer10)
c.3748_3750delinsA (p.Pro1250ThrfsTer10)
c.3403_3405delinsA (p.Pro1135ThrfsTer10)
c.3147_3149delinsA
c.3514_3516delinsA (p.Pro1172ThrfsTer10)
c.3745_3747delinsA (p.Pro1249ThrfsTer10)
c.3634_3636delinsA (p.Pro1212ThrfsTer10)
c.3517_3519delinsA (p.Pro1173ThrfsTer10)
n.3795_3797delinsA
c.343-3227_343-3225delinsA (n.343-3227_343-3225delinsA)
c.3859_3861delinsA (p.Pro1287ThrfsTer10)
c.3856_3858delinsA (p.Pro1286ThrfsTer10)
c.3628_3630delinsA (p.Pro1210ThrfsTer10)
c.3679_3681delinsA (p.Pro1227ThrfsTer10)
n.3863_3865delinsA
n.3752_3754delinsA
c.3742_3744delinsA (p.Pro1248ThrfsTer10)
c.3568_3570delinsA (p.Pro1190ThrfsTer10)
c.3454_3456delinsA (p.Pro1152ThrfsTer10)
n.3865_3867delinsA
n.3754_3756delinsA
5g.150393516_150393517insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGACA2768883140TCOF1c.3631_3632insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1211ArgfsTer42)
c.3748_3749insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1250ArgfsTer42)
c.3403_3404insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1135ArgfsTer42)
c.3147_3148insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA
c.3514_3515insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1172ArgfsTer42)
c.3745_3746insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1249ArgfsTer42)
c.3634_3635insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1212ArgfsTer42)
c.3517_3518insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1173ArgfsTer42)
n.3795_3796insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA
c.343-3227_343-3226insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (n.343-3227_343-3226insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA)
c.3859_3860insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1287ArgfsTer42)
c.3856_3857insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1286ArgfsTer42)
c.3628_3629insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1210ArgfsTer42)
c.3679_3680insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1227ArgfsTer42)
n.3863_3864insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA
n.3752_3753insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA
c.3742_3743insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1248ArgfsTer42)
c.3568_3569insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1190ArgfsTer42)
c.3454_3455insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA (p.Pro1152ArgfsTer42)
n.3865_3866insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA
n.3754_3755insGGGCGGCAGCGGAACCGACTCGCCAGACGTTGCGCCCCGTTGTGGACGACAGTGTGGACTGGGACACGACGGAGAACCTATACATTGAGGGCGA
5g.150393517C>ACA361739810TCOF1c.3632C>A (p.Pro1211His)
c.3749C>A (p.Pro1250His)
c.3404C>A (p.Pro1135His)
c.3148C>A
c.3515C>A (p.Pro1172His)
c.3746C>A (p.Pro1249His)
c.3635C>A (p.Pro1212His)
c.3518C>A (p.Pro1173His)
n.3796C>A
c.343-3226C>A (n.343-3226C>A)
c.3860C>A (p.Pro1287His)
c.3857C>A (p.Pro1286His)
c.3629C>A (p.Pro1210His)
c.3680C>A (p.Pro1227His)
n.3864C>A
n.3753C>A
c.3743C>A (p.Pro1248His)
c.3569C>A (p.Pro1190His)
c.3455C>A (p.Pro1152His)
n.3866C>A
n.3755C>A
 dbSNP gnomAD v3 gnomAD v4
5g.150393517C=CA1590926021TCOF1c.3632C= (p.Pro1211=)
c.3749C= (p.Pro1250=)
c.3404C= (p.Pro1135=)
c.3148C=
c.3515C= (p.Pro1172=)
c.3746C= (p.Pro1249=)
c.3635C= (p.Pro1212=)
c.3518C= (p.Pro1173=)
n.3796C=
c.343-3226C= (n.343-3226C=)
c.3860C= (p.Pro1287=)
c.3857C= (p.Pro1286=)
c.3629C= (p.Pro1210=)
c.3680C= (p.Pro1227=)
n.3864C=
n.3753C=
c.3743C= (p.Pro1248=)
c.3569C= (p.Pro1190=)
c.3455C= (p.Pro1152=)
n.3866C=
n.3755C=
5g.150393517C>GCA361739811TCOF1c.3632C>G (p.Pro1211Arg)
c.3749C>G (p.Pro1250Arg)
c.3404C>G (p.Pro1135Arg)
c.3148C>G
c.3515C>G (p.Pro1172Arg)
c.3746C>G (p.Pro1249Arg)
c.3635C>G (p.Pro1212Arg)
c.3518C>G (p.Pro1173Arg)
n.3796C>G
c.343-3226C>G (n.343-3226C>G)
c.3860C>G (p.Pro1287Arg)
c.3857C>G (p.Pro1286Arg)
c.3629C>G (p.Pro1210Arg)
c.3680C>G (p.Pro1227Arg)
n.3864C>G
n.3753C>G
c.3743C>G (p.Pro1248Arg)
c.3569C>G (p.Pro1190Arg)
c.3455C>G (p.Pro1152Arg)
n.3866C>G
n.3755C>G
5g.150393517C>TCA361739813TCOF1c.3632C>T (p.Pro1211Leu)
c.3749C>T (p.Pro1250Leu)
c.3404C>T (p.Pro1135Leu)
c.3148C>T
c.3515C>T (p.Pro1172Leu)
c.3746C>T (p.Pro1249Leu)
c.3635C>T (p.Pro1212Leu)
c.3518C>T (p.Pro1173Leu)
n.3796C>T
c.343-3226C>T (n.343-3226C>T)
c.3860C>T (p.Pro1287Leu)
c.3857C>T (p.Pro1286Leu)
c.3629C>T (p.Pro1210Leu)
c.3680C>T (p.Pro1227Leu)
n.3864C>T
n.3753C>T
c.3743C>T (p.Pro1248Leu)
c.3569C>T (p.Pro1190Leu)
c.3455C>T (p.Pro1152Leu)
n.3866C>T
n.3755C>T
5g.150393518C>ACA447158257TCOF1c.3633C>A (p.Pro1211=)
c.3750C>A (p.Pro1250=)
c.3405C>A (p.Pro1135=)
c.3149C>A
c.3516C>A (p.Pro1172=)
c.3747C>A (p.Pro1249=)
c.3636C>A (p.Pro1212=)
c.3519C>A (p.Pro1173=)
n.3797C>A
c.343-3225C>A (n.343-3225C>A)
c.3861C>A (p.Pro1287=)
c.3858C>A (p.Pro1286=)
c.3630C>A (p.Pro1210=)
c.3681C>A (p.Pro1227=)
n.3865C>A
n.3754C>A
c.3744C>A (p.Pro1248=)
c.3570C>A (p.Pro1190=)
c.3456C>A (p.Pro1152=)
n.3867C>A
n.3756C>A
5g.150393518C=CA1590926022TCOF1c.3633C= (p.Pro1211=)
c.3750C= (p.Pro1250=)
c.3405C= (p.Pro1135=)
c.3149C=
c.3516C= (p.Pro1172=)
c.3747C= (p.Pro1249=)
c.3636C= (p.Pro1212=)
c.3519C= (p.Pro1173=)
n.3797C=
c.343-3225C= (n.343-3225C=)
c.3861C= (p.Pro1287=)
c.3858C= (p.Pro1286=)
c.3630C= (p.Pro1210=)
c.3681C= (p.Pro1227=)
n.3865C=
n.3754C=
c.3744C= (p.Pro1248=)
c.3570C= (p.Pro1190=)
c.3456C= (p.Pro1152=)
n.3867C=
n.3756C=
5g.150393518C>GCA447158258TCOF1c.3633C>G (p.Pro1211=)
c.3750C>G (p.Pro1250=)
c.3405C>G (p.Pro1135=)
c.3149C>G
c.3516C>G (p.Pro1172=)
c.3747C>G (p.Pro1249=)
c.3636C>G (p.Pro1212=)
c.3519C>G (p.Pro1173=)
n.3797C>G
c.343-3225C>G (n.343-3225C>G)
c.3861C>G (p.Pro1287=)
c.3858C>G (p.Pro1286=)
c.3630C>G (p.Pro1210=)
c.3681C>G (p.Pro1227=)
n.3865C>G
n.3754C>G
c.3744C>G (p.Pro1248=)
c.3570C>G (p.Pro1190=)
c.3456C>G (p.Pro1152=)
n.3867C>G
n.3756C>G
 dbSNP gnomAD v3 gnomAD v4
5g.150393518C>TCA447158260TCOF1c.3633C>T (p.Pro1211=)
c.3750C>T (p.Pro1250=)
c.3405C>T (p.Pro1135=)
c.3149C>T
c.3516C>T (p.Pro1172=)
c.3747C>T (p.Pro1249=)
c.3636C>T (p.Pro1212=)
c.3519C>T (p.Pro1173=)
n.3797C>T
c.343-3225C>T (n.343-3225C>T)
c.3861C>T (p.Pro1287=)
c.3858C>T (p.Pro1286=)
c.3630C>T (p.Pro1210=)
c.3681C>T (p.Pro1227=)
n.3865C>T
n.3754C>T
c.3744C>T (p.Pro1248=)
c.3570C>T (p.Pro1190=)
c.3456C>T (p.Pro1152=)
n.3867C>T
n.3756C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.150393519C>ACA361739814TCOF1c.3634C>A (p.Gln1212Lys)
c.3751C>A (p.Gln1251Lys)
c.3406C>A (p.Gln1136Lys)
c.3150C>A
c.3517C>A (p.Gln1173Lys)
c.3748C>A (p.Gln1250Lys)
c.3637C>A (p.Gln1213Lys)
c.3520C>A (p.Gln1174Lys)
n.3798C>A
c.343-3224C>A (n.343-3224C>A)
c.3862C>A (p.Gln1288Lys)
c.3859C>A (p.Gln1287Lys)
c.3631C>A (p.Gln1211Lys)
c.3682C>A (p.Gln1228Lys)
n.3866C>A
n.3755C>A
c.3745C>A (p.Gln1249Lys)
c.3571C>A (p.Gln1191Lys)
c.3457C>A (p.Gln1153Lys)
n.3868C>A
n.3757C>A
5g.150393519C>GCA361739816TCOF1c.3634C>G (p.Gln1212Glu)
c.3751C>G (p.Gln1251Glu)
c.3406C>G (p.Gln1136Glu)
c.3150C>G
c.3517C>G (p.Gln1173Glu)
c.3748C>G (p.Gln1250Glu)
c.3637C>G (p.Gln1213Glu)
c.3520C>G (p.Gln1174Glu)
n.3798C>G
c.343-3224C>G (n.343-3224C>G)
c.3862C>G (p.Gln1288Glu)
c.3859C>G (p.Gln1287Glu)
c.3631C>G (p.Gln1211Glu)
c.3682C>G (p.Gln1228Glu)
n.3866C>G
n.3755C>G
c.3745C>G (p.Gln1249Glu)
c.3571C>G (p.Gln1191Glu)
c.3457C>G (p.Gln1153Glu)
n.3868C>G
n.3757C>G
 gnomAD v4
5g.150393519C>TCA361739817TCOF1c.3634C>T (p.Gln1212Ter)
c.3751C>T (p.Gln1251Ter)
c.3406C>T (p.Gln1136Ter)
c.3150C>T
c.3517C>T (p.Gln1173Ter)
c.3748C>T (p.Gln1250Ter)
c.3637C>T (p.Gln1213Ter)
c.3520C>T (p.Gln1174Ter)
n.3798C>T
c.343-3224C>T (n.343-3224C>T)
c.3862C>T (p.Gln1288Ter)
c.3859C>T (p.Gln1287Ter)
c.3631C>T (p.Gln1211Ter)
c.3682C>T (p.Gln1228Ter)
n.3866C>T
n.3755C>T
c.3745C>T (p.Gln1249Ter)
c.3571C>T (p.Gln1191Ter)
c.3457C>T (p.Gln1153Ter)
n.3868C>T
n.3757C>T
5g.150393520A>CCA361739832TCOF1c.3635A>C (p.Gln1212Pro)
c.3752A>C (p.Gln1251Pro)
c.3407A>C (p.Gln1136Pro)
c.3151A>C
c.3518A>C (p.Gln1173Pro)
c.3749A>C (p.Gln1250Pro)
c.3638A>C (p.Gln1213Pro)
c.3521A>C (p.Gln1174Pro)
n.3799A>C
c.343-3223A>C (n.343-3223A>C)
c.3863A>C (p.Gln1288Pro)
c.3860A>C (p.Gln1287Pro)
c.3632A>C (p.Gln1211Pro)
c.3683A>C (p.Gln1228Pro)
n.3867A>C
n.3756A>C
c.3746A>C (p.Gln1249Pro)
c.3572A>C (p.Gln1191Pro)
c.3458A>C (p.Gln1153Pro)
n.3869A>C
n.3758A>C
5g.150393520A>GCA361739820TCOF1c.3635A>G (p.Gln1212Arg)
c.3752A>G (p.Gln1251Arg)
c.3407A>G (p.Gln1136Arg)
c.3151A>G
c.3518A>G (p.Gln1173Arg)
c.3749A>G (p.Gln1250Arg)
c.3638A>G (p.Gln1213Arg)
c.3521A>G (p.Gln1174Arg)
n.3799A>G
c.343-3223A>G (n.343-3223A>G)
c.3863A>G (p.Gln1288Arg)
c.3860A>G (p.Gln1287Arg)
c.3632A>G (p.Gln1211Arg)
c.3683A>G (p.Gln1228Arg)
n.3867A>G
n.3756A>G
c.3746A>G (p.Gln1249Arg)
c.3572A>G (p.Gln1191Arg)
c.3458A>G (p.Gln1153Arg)
n.3869A>G
n.3758A>G
5g.150393520A>TCA361739830TCOF1c.3635A>T (p.Gln1212Leu)
c.3752A>T (p.Gln1251Leu)
c.3407A>T (p.Gln1136Leu)
c.3151A>T
c.3518A>T (p.Gln1173Leu)
c.3749A>T (p.Gln1250Leu)
c.3638A>T (p.Gln1213Leu)
c.3521A>T (p.Gln1174Leu)
n.3799A>T
c.343-3223A>T (n.343-3223A>T)
c.3863A>T (p.Gln1288Leu)
c.3860A>T (p.Gln1287Leu)
c.3632A>T (p.Gln1211Leu)
c.3683A>T (p.Gln1228Leu)
n.3867A>T
n.3756A>T
c.3746A>T (p.Gln1249Leu)
c.3572A>T (p.Gln1191Leu)
c.3458A>T (p.Gln1153Leu)
n.3869A>T
n.3758A>T
5g.150393521A=CA1590926024TCOF1c.3636A= (p.Gln1212=)
c.3753A= (p.Gln1251=)
c.3408A= (p.Gln1136=)
c.3152A=
c.3519A= (p.Gln1173=)
c.3750A= (p.Gln1250=)
c.3639A= (p.Gln1213=)
c.3522A= (p.Gln1174=)
n.3800A=
c.343-3222A= (n.343-3222A=)
c.3864A= (p.Gln1288=)
c.3861A= (p.Gln1287=)
c.3633A= (p.Gln1211=)
c.3684A= (p.Gln1228=)
n.3868A=
n.3757A=
c.3747A= (p.Gln1249=)
c.3573A= (p.Gln1191=)
c.3459A= (p.Gln1153=)
n.3870A=
n.3759A=
5g.150393521A>CCA361739836TCOF1c.3636A>C (p.Gln1212His)
c.3753A>C (p.Gln1251His)
c.3408A>C (p.Gln1136His)
c.3152A>C
c.3519A>C (p.Gln1173His)
c.3750A>C (p.Gln1250His)
c.3639A>C (p.Gln1213His)
c.3522A>C (p.Gln1174His)
n.3800A>C
c.343-3222A>C (n.343-3222A>C)
c.3864A>C (p.Gln1288His)
c.3861A>C (p.Gln1287His)
c.3633A>C (p.Gln1211His)
c.3684A>C (p.Gln1228His)
n.3868A>C
n.3757A>C
c.3747A>C (p.Gln1249His)
c.3573A>C (p.Gln1191His)
c.3459A>C (p.Gln1153His)
n.3870A>C
n.3759A>C
5g.150393521A>GCA129107309TCOF1c.3636A>G (p.Gln1212=)
c.3753A>G (p.Gln1251=)
c.3408A>G (p.Gln1136=)
c.3152A>G
c.3519A>G (p.Gln1173=)
c.3750A>G (p.Gln1250=)
c.3639A>G (p.Gln1213=)
c.3522A>G (p.Gln1174=)
n.3800A>G
c.343-3222A>G (n.343-3222A>G)
c.3864A>G (p.Gln1288=)
c.3861A>G (p.Gln1287=)
c.3633A>G (p.Gln1211=)
c.3684A>G (p.Gln1228=)
n.3868A>G
n.3757A>G
c.3747A>G (p.Gln1249=)
c.3573A>G (p.Gln1191=)
c.3459A>G (p.Gln1153=)
n.3870A>G
n.3759A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.150393521A>TCA361739846TCOF1c.3636A>T (p.Gln1212His)
c.3753A>T (p.Gln1251His)
c.3408A>T (p.Gln1136His)
c.3152A>T
c.3519A>T (p.Gln1173His)
c.3750A>T (p.Gln1250His)
c.3639A>T (p.Gln1213His)
c.3522A>T (p.Gln1174His)
n.3800A>T
c.343-3222A>T (n.343-3222A>T)
c.3864A>T (p.Gln1288His)
c.3861A>T (p.Gln1287His)
c.3633A>T (p.Gln1211His)
c.3684A>T (p.Gln1228His)
n.3868A>T
n.3757A>T
c.3747A>T (p.Gln1249His)
c.3573A>T (p.Gln1191His)
c.3459A>T (p.Gln1153His)
n.3870A>T
n.3759A>T
5g.150393521_150393525delinsACAGGCA1590926023TCOF1c.3636_3640delinsACAGG (p.Gln1212=)
c.3753_3757delinsACAGG (p.Gln1251=)
c.3408_3412delinsACAGG (p.Gln1136=)
c.3152_3156delinsACAGG
c.3519_3523delinsACAGG (p.Gln1173=)
c.3750_3754delinsACAGG (p.Gln1250=)
c.3639_3643delinsACAGG (p.Gln1213=)
c.3522_3526delinsACAGG (p.Gln1174=)
n.3800_3804delinsACAGG
c.343-3222_343-3218delinsACAGG (n.343-3222_343-3218delinsACAGG)
c.3864_3868delinsACAGG (p.Gln1288=)
c.3861_3865delinsACAGG (p.Gln1287=)
c.3633_3637delinsACAGG (p.Gln1211=)
c.3684_3688delinsACAGG (p.Gln1228=)
c.3747_3751delinsACAGG (p.Gln1249=)
c.3573_3577delinsACAGG (p.Gln1191=)
c.3459_3463delinsACAGG (p.Gln1153=)
n.3870_3874delinsACAGG
n.3759_3763delinsACAGG
5g.150393522delCA2695198779TCOF1c.3637del (p.Gln1213ArgfsTer?)
c.3754del (p.Gln1252ArgfsTer?)
c.3409del (p.Gln1137ArgfsTer?)
c.3153del
c.3520del (p.Gln1174ArgfsTer?)
c.3751del (p.Gln1251ArgfsTer?)
c.3640del (p.Gln1214ArgfsTer?)
c.3523del (p.Gln1175ArgfsTer?)
n.3801del
c.343-3221del (n.343-3221del)
c.3865del (p.Gln1289ArgfsTer?)
c.3862del (p.Gln1288ArgfsTer?)
c.3634del (p.Gln1212ArgfsTer?)
c.3685del (p.Gln1229ArgfsTer?)
n.3869del
n.3758del
c.3748del (p.Gln1250ArgfsTer?)
c.3574del (p.Gln1192ArgfsTer?)
c.3460del (p.Gln1154ArgfsTer?)
n.3871del
n.3760del
 ClinVar
5g.150393522C>ACA361739849TCOF1c.3637C>A (p.Gln1213Lys)
c.3754C>A (p.Gln1252Lys)
c.3409C>A (p.Gln1137Lys)
c.3153C>A
c.3520C>A (p.Gln1174Lys)
c.3751C>A (p.Gln1251Lys)
c.3640C>A (p.Gln1214Lys)
c.3523C>A (p.Gln1175Lys)
n.3801C>A
c.343-3221C>A (n.343-3221C>A)
c.3865C>A (p.Gln1289Lys)
c.3862C>A (p.Gln1288Lys)
c.3634C>A (p.Gln1212Lys)
c.3685C>A (p.Gln1229Lys)
n.3869C>A
n.3758C>A
c.3748C>A (p.Gln1250Lys)
c.3574C>A (p.Gln1192Lys)
c.3460C>A (p.Gln1154Lys)
n.3871C>A
n.3760C>A
5g.150393522C>GCA361739852TCOF1c.3637C>G (p.Gln1213Glu)
c.3754C>G (p.Gln1252Glu)
c.3409C>G (p.Gln1137Glu)
c.3153C>G
c.3520C>G (p.Gln1174Glu)
c.3751C>G (p.Gln1251Glu)
c.3640C>G (p.Gln1214Glu)
c.3523C>G (p.Gln1175Glu)
n.3801C>G
c.343-3221C>G (n.343-3221C>G)
c.3865C>G (p.Gln1289Glu)
c.3862C>G (p.Gln1288Glu)
c.3634C>G (p.Gln1212Glu)
c.3685C>G (p.Gln1229Glu)
n.3869C>G
n.3758C>G
c.3748C>G (p.Gln1250Glu)
c.3574C>G (p.Gln1192Glu)
c.3460C>G (p.Gln1154Glu)
n.3871C>G
n.3760C>G
5g.150393522C>TCA361739855TCOF1c.3637C>T (p.Gln1213Ter)
c.3754C>T (p.Gln1252Ter)
c.3409C>T (p.Gln1137Ter)
c.3153C>T
c.3520C>T (p.Gln1174Ter)
c.3751C>T (p.Gln1251Ter)
c.3640C>T (p.Gln1214Ter)
c.3523C>T (p.Gln1175Ter)
n.3801C>T
c.343-3221C>T (n.343-3221C>T)
c.3865C>T (p.Gln1289Ter)
c.3862C>T (p.Gln1288Ter)
c.3634C>T (p.Gln1212Ter)
c.3685C>T (p.Gln1229Ter)
n.3869C>T
n.3758C>T
c.3748C>T (p.Gln1250Ter)
c.3574C>T (p.Gln1192Ter)
c.3460C>T (p.Gln1154Ter)
n.3871C>T
n.3760C>T
5g.150393525_150393528delCA16042509TCOF1c.3640_3643del (p.Ala1214GlnfsTer?)
c.3757_3760del (p.Ala1253GlnfsTer?)
c.3412_3415del (p.Ala1138GlnfsTer?)
c.3156_3159del
c.3523_3526del (p.Ala1175GlnfsTer?)
c.3754_3757del (p.Ala1252GlnfsTer?)
c.3643_3646del (p.Ala1215GlnfsTer?)
c.3526_3529del (p.Ala1176GlnfsTer?)
n.3804_3807del
c.343-3218_343-3215del (n.343-3218_343-3215del)
c.3868_3871del (p.Ala1290GlnfsTer?)
c.3865_3868del (p.Ala1289GlnfsTer?)
c.3637_3640del (p.Ala1213GlnfsTer?)
c.3688_3691del (p.Ala1230GlnfsTer?)
c.3751_3754del (p.Ala1251GlnfsTer?)
c.3577_3580del (p.Ala1193GlnfsTer?)
c.3463_3466del (p.Ala1155GlnfsTer?)
n.3874_3877del
n.3763_3766del
 ClinVar dbSNP
5g.150393523A=CA1590926025TCOF1c.3638A= (p.Gln1213=)
c.3755A= (p.Gln1252=)
c.3410A= (p.Gln1137=)
c.3154A=
c.3521A= (p.Gln1174=)
c.3752A= (p.Gln1251=)
c.3641A= (p.Gln1214=)
c.3524A= (p.Gln1175=)
n.3802A=
c.343-3220A= (n.343-3220A=)
c.3866A= (p.Gln1289=)
c.3863A= (p.Gln1288=)
c.3635A= (p.Gln1212=)
c.3686A= (p.Gln1229=)
n.3870A=
n.3759A=
c.3749A= (p.Gln1250=)
c.3575A= (p.Gln1192=)
c.3461A= (p.Gln1154=)
n.3872A=
n.3761A=
5g.150393523A>CCA361739860TCOF1c.3638A>C (p.Gln1213Pro)
c.3755A>C (p.Gln1252Pro)
c.3410A>C (p.Gln1137Pro)
c.3154A>C
c.3521A>C (p.Gln1174Pro)
c.3752A>C (p.Gln1251Pro)
c.3641A>C (p.Gln1214Pro)
c.3524A>C (p.Gln1175Pro)
n.3802A>C
c.343-3220A>C (n.343-3220A>C)
c.3866A>C (p.Gln1289Pro)
c.3863A>C (p.Gln1288Pro)
c.3635A>C (p.Gln1212Pro)
c.3686A>C (p.Gln1229Pro)
n.3870A>C
n.3759A>C
c.3749A>C (p.Gln1250Pro)
c.3575A>C (p.Gln1192Pro)
c.3461A>C (p.Gln1154Pro)
n.3872A>C
n.3761A>C
5g.150393523A>GCA3511585TCOF1c.3638A>G (p.Gln1213Arg)
c.3755A>G (p.Gln1252Arg)
c.3410A>G (p.Gln1137Arg)
c.3154A>G
c.3521A>G (p.Gln1174Arg)
c.3752A>G (p.Gln1251Arg)
c.3641A>G (p.Gln1214Arg)
c.3524A>G (p.Gln1175Arg)
n.3802A>G
c.343-3220A>G (n.343-3220A>G)
c.3866A>G (p.Gln1289Arg)
c.3863A>G (p.Gln1288Arg)
c.3635A>G (p.Gln1212Arg)
c.3686A>G (p.Gln1229Arg)
n.3870A>G
n.3759A>G
c.3749A>G (p.Gln1250Arg)
c.3575A>G (p.Gln1192Arg)
c.3461A>G (p.Gln1154Arg)
n.3872A>G
n.3761A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150393523A>TCA361739862TCOF1c.3638A>T (p.Gln1213Leu)
c.3755A>T (p.Gln1252Leu)
c.3410A>T (p.Gln1137Leu)
c.3154A>T
c.3521A>T (p.Gln1174Leu)
c.3752A>T (p.Gln1251Leu)
c.3641A>T (p.Gln1214Leu)
c.3524A>T (p.Gln1175Leu)
n.3802A>T
c.343-3220A>T (n.343-3220A>T)
c.3866A>T (p.Gln1289Leu)
c.3863A>T (p.Gln1288Leu)
c.3635A>T (p.Gln1212Leu)
c.3686A>T (p.Gln1229Leu)
n.3870A>T
n.3759A>T
c.3749A>T (p.Gln1250Leu)
c.3575A>T (p.Gln1192Leu)
c.3461A>T (p.Gln1154Leu)
n.3872A>T
n.3761A>T
5g.150393524G>ACA447158278TCOF1c.3639G>A (p.Gln1213=)
c.3756G>A (p.Gln1252=)
c.3411G>A (p.Gln1137=)
c.3155G>A
c.3522G>A (p.Gln1174=)
c.3753G>A (p.Gln1251=)
c.3642G>A (p.Gln1214=)
c.3525G>A (p.Gln1175=)
n.3803G>A
c.343-3219G>A (n.343-3219G>A)
c.3867G>A (p.Gln1289=)
c.3864G>A (p.Gln1288=)
c.3636G>A (p.Gln1212=)
c.3687G>A (p.Gln1229=)
c.3750G>A (p.Gln1250=)
c.3576G>A (p.Gln1192=)
c.3462G>A (p.Gln1154=)
n.3873G>A
n.3762G>A
 dbSNP gnomAD v2 gnomAD v4
5g.150393524G>CCA361739864TCOF1c.3639G>C (p.Gln1213His)
c.3756G>C (p.Gln1252His)
c.3411G>C (p.Gln1137His)
c.3155G>C
c.3522G>C (p.Gln1174His)
c.3753G>C (p.Gln1251His)
c.3642G>C (p.Gln1214His)
c.3525G>C (p.Gln1175His)
n.3803G>C
c.343-3219G>C (n.343-3219G>C)
c.3867G>C (p.Gln1289His)
c.3864G>C (p.Gln1288His)
c.3636G>C (p.Gln1212His)
c.3687G>C (p.Gln1229His)
c.3750G>C (p.Gln1250His)
c.3576G>C (p.Gln1192His)
c.3462G>C (p.Gln1154His)
n.3873G>C
n.3762G>C
5g.150393524G=CA1590926026TCOF1c.3639G= (p.Gln1213=)
c.3756G= (p.Gln1252=)
c.3411G= (p.Gln1137=)
c.3155G=
c.3522G= (p.Gln1174=)
c.3753G= (p.Gln1251=)
c.3642G= (p.Gln1214=)
c.3525G= (p.Gln1175=)
n.3803G=
c.343-3219G= (n.343-3219G=)
c.3867G= (p.Gln1289=)
c.3864G= (p.Gln1288=)
c.3636G= (p.Gln1212=)
c.3687G= (p.Gln1229=)
c.3750G= (p.Gln1250=)
c.3576G= (p.Gln1192=)
c.3462G= (p.Gln1154=)
n.3873G=
n.3762G=
5g.150393524G>TCA361739870TCOF1c.3639G>T (p.Gln1213His)
c.3756G>T (p.Gln1252His)
c.3411G>T (p.Gln1137His)
c.3155G>T
c.3522G>T (p.Gln1174His)
c.3753G>T (p.Gln1251His)
c.3642G>T (p.Gln1214His)
c.3525G>T (p.Gln1175His)
n.3803G>T
c.343-3219G>T (n.343-3219G>T)
c.3867G>T (p.Gln1289His)
c.3864G>T (p.Gln1288His)
c.3636G>T (p.Gln1212His)
c.3687G>T (p.Gln1229His)
c.3750G>T (p.Gln1250His)
c.3576G>T (p.Gln1192His)
c.3462G>T (p.Gln1154His)
n.3873G>T
n.3762G>T
5g.150393525G>ACA361739874TCOF1c.3640G>A (p.Ala1214Thr)
c.3757G>A (p.Ala1253Thr)
c.3412G>A (p.Ala1138Thr)
c.3156G>A
c.3523G>A (p.Ala1175Thr)
c.3754G>A (p.Ala1252Thr)
c.3643G>A (p.Ala1215Thr)
c.3526G>A (p.Ala1176Thr)
n.3804G>A
c.343-3218G>A (n.343-3218G>A)
c.3868G>A (p.Ala1290Thr)
c.3865G>A (p.Ala1289Thr)
c.3637G>A (p.Ala1213Thr)
c.3688G>A (p.Ala1230Thr)
c.3751G>A (p.Ala1251Thr)
c.3577G>A (p.Ala1193Thr)
c.3463G>A (p.Ala1155Thr)
n.3874G>A
n.3763G>A
 gnomAD v4
5g.150393525G>CCA361739878TCOF1c.3640G>C (p.Ala1214Pro)
c.3757G>C (p.Ala1253Pro)
c.3412G>C (p.Ala1138Pro)
c.3156G>C
c.3523G>C (p.Ala1175Pro)
c.3754G>C (p.Ala1252Pro)
c.3643G>C (p.Ala1215Pro)
c.3526G>C (p.Ala1176Pro)
n.3804G>C
c.343-3218G>C (n.343-3218G>C)
c.3868G>C (p.Ala1290Pro)
c.3865G>C (p.Ala1289Pro)
c.3637G>C (p.Ala1213Pro)
c.3688G>C (p.Ala1230Pro)
c.3751G>C (p.Ala1251Pro)
c.3577G>C (p.Ala1193Pro)
c.3463G>C (p.Ala1155Pro)
n.3874G>C
n.3763G>C
5g.150393525G>TCA361739880TCOF1c.3640G>T (p.Ala1214Ser)
c.3757G>T (p.Ala1253Ser)
c.3412G>T (p.Ala1138Ser)
c.3156G>T
c.3523G>T (p.Ala1175Ser)
c.3754G>T (p.Ala1252Ser)
c.3643G>T (p.Ala1215Ser)
c.3526G>T (p.Ala1176Ser)
n.3804G>T
c.343-3218G>T (n.343-3218G>T)
c.3868G>T (p.Ala1290Ser)
c.3865G>T (p.Ala1289Ser)
c.3637G>T (p.Ala1213Ser)
c.3688G>T (p.Ala1230Ser)
c.3751G>T (p.Ala1251Ser)
c.3577G>T (p.Ala1193Ser)
c.3463G>T (p.Ala1155Ser)
n.3874G>T
n.3763G>T
5g.150393526C>ACA361739883TCOF1c.3641C>A (p.Ala1214Glu)
c.3758C>A (p.Ala1253Glu)
c.3413C>A (p.Ala1138Glu)
c.3157C>A
c.3524C>A (p.Ala1175Glu)
c.3755C>A (p.Ala1252Glu)
c.3644C>A (p.Ala1215Glu)
c.3527C>A (p.Ala1176Glu)
n.3805C>A
c.343-3217C>A (n.343-3217C>A)
c.3869C>A (p.Ala1290Glu)
c.3866C>A (p.Ala1289Glu)
c.3638C>A (p.Ala1213Glu)
c.3689C>A (p.Ala1230Glu)
c.3752C>A (p.Ala1251Glu)
c.3578C>A (p.Ala1193Glu)
c.3464C>A (p.Ala1155Glu)
n.3875C>A
n.3764C>A
5g.150393526C=CA1590926027TCOF1c.3641C= (p.Ala1214=)
c.3758C= (p.Ala1253=)
c.3413C= (p.Ala1138=)
c.3157C=
c.3524C= (p.Ala1175=)
c.3755C= (p.Ala1252=)
c.3644C= (p.Ala1215=)
c.3527C= (p.Ala1176=)
n.3805C=
c.343-3217C= (n.343-3217C=)
c.3869C= (p.Ala1290=)
c.3866C= (p.Ala1289=)
c.3638C= (p.Ala1213=)
c.3689C= (p.Ala1230=)
c.3752C= (p.Ala1251=)
c.3578C= (p.Ala1193=)
c.3464C= (p.Ala1155=)
n.3875C=
n.3764C=
5g.150393526C>GCA361739885TCOF1c.3641C>G (p.Ala1214Gly)
c.3758C>G (p.Ala1253Gly)
c.3413C>G (p.Ala1138Gly)
c.3157C>G
c.3524C>G (p.Ala1175Gly)
c.3755C>G (p.Ala1252Gly)
c.3644C>G (p.Ala1215Gly)
c.3527C>G (p.Ala1176Gly)
n.3805C>G
c.343-3217C>G (n.343-3217C>G)
c.3869C>G (p.Ala1290Gly)
c.3866C>G (p.Ala1289Gly)
c.3638C>G (p.Ala1213Gly)
c.3689C>G (p.Ala1230Gly)
c.3752C>G (p.Ala1251Gly)
c.3578C>G (p.Ala1193Gly)
c.3464C>G (p.Ala1155Gly)
n.3875C>G
n.3764C>G
5g.150393526C>TCA361739888TCOF1c.3641C>T (p.Ala1214Val)
c.3758C>T (p.Ala1253Val)
c.3413C>T (p.Ala1138Val)
c.3157C>T
c.3524C>T (p.Ala1175Val)
c.3755C>T (p.Ala1252Val)
c.3644C>T (p.Ala1215Val)
c.3527C>T (p.Ala1176Val)
n.3805C>T
c.343-3217C>T (n.343-3217C>T)
c.3869C>T (p.Ala1290Val)
c.3866C>T (p.Ala1289Val)
c.3638C>T (p.Ala1213Val)
c.3689C>T (p.Ala1230Val)
c.3752C>T (p.Ala1251Val)
c.3578C>T (p.Ala1193Val)
c.3464C>T (p.Ala1155Val)
n.3875C>T
n.3764C>T
 dbSNP

Number of alleles fetched