"Variant;Nucleotide change (NM_001197104.2);Domain;Source;Annotation (Clinvar/HGMD);Phred-like CADD score" "P44T;c.133C>T;No domain;Clinvar;Uncertain Significance;21.4" "S56Y;c.167C>A;No domain;Clinvar;Uncertain Significance;22" "R164K;c.491G>A;No domain;Clinvar;Uncertain Significance;22.1" "K232E;c.694A>G;No domain;Clinvar;Uncertain Significance;23.6" "P280T;c.838C>A;No domain;Miyake et al 2016;;24.4" "V413I;c.1237G>A;No domain;HGMD(Faundes et al 2017);Uncertain Significance;25.4" "R478Q;c.1433G>A;No domain;Clinvar;Uncertain Significance;27.9" "V776A;c.2327T>C;No domain;Clinvar;Uncertain Significance;21.1" "S802C;c.2405C>G ;No domain;Clinvar;Uncertain Significance;25" "S873N;c.2618G>A;No domain;Clinvar;Uncertain Significance;21.1" "R878Q;c.2633G>A;No domain;HGMD(Fokstuen et al 2016);likely benign/Uncetrain significance;29" "S996P;c.2986T>C;No domain;Clinvar;Uncertain Significance;20.2" "G1007C;c.3019G>T;No domain;Clinvar;Conflicting interpretations of pathogenicity;31" "A1032S;c.3094G>T;No domain;Clinvar;Uncertain Significance;31" "R1083Q;c.3248G>A;No domain;HGMD(Monies et al 2017);;31" "L1113R;c.3338A>G;No domain;HGMD(Faundes et al 2017);likely pathogenic;31" "N1138S;c.3413A>G;No domain;Clinvar;Uncertain Significance;25.8" "S1152P;c.3454T>C;CXXC;HGMD(Faundes et al 2017);Uncertain Significance;26.9" "R1154W;c.3460C>T;CXXC;Clinvar;Pathogenic/likely pathogenic;23.8" "R1154Q;c.3461G>A;CXXC;Clinvar;Pathogenic/likely pathogenic;29.8" "C1155Y;c.3464G>A;CXXC;Clinvar;Pathogenic/likely pathogenic;31" "C1158Y;c.3473G>A;CXXC;Clinvar;Likely pathogenic;29.5" "C1158S;c.3473G>C;CXXC;Clinvar;Pathogenic;28.8" "C1161G;c.3481T>G;CXXC;Lebrun N et al 2018;;29.0" "C1161S;c.3482G>C;CXXC;Jones WD 2017;;28.6" "C1167Y;c.3500G>A;CXXC;Jones WD 2017;;29.4" "G1168D;c.3504G>A;CXXC;Lebrun N et al 2018;;28.9" "G1180A;c.3539G>C;CXXC;HGMD(Dillon et al 2018);;27.5" "G1181D;c.3542G>A;CXXC;Baer S et al 2018;;28.6" "G1181C;c.3541G>T;CXXC;Clinvar;Likely pathogenic;31" "K1186E;c.3556A>G;CXXC;Jones WD 2017;;29.7" "K1186T;c.3557A>C;CXXC;Clinvar;Pathogenic;29.2" "C1189R;c.3565T>C;CXXC;Clinvar;Pathogenic;31" "C1189Y;c.3566G>A;CXXC;Clinvar;Pathogenic;29.3" "C1194Y;c.3581G>A;CXXC;Clinvar;Uncertain Significance;30" "S1389C;c.4166C>G;No domain;HGMD(Liu et al 2017);;25.7" "C1448R;c.4342T>C;PHD finger 1;Clinvar;Likely pathogenic;29.7" "C1448Y;c.4343G>A;PHD finger 1;Clinvar;Pathogenic;29.9" "H1456R;c.4367A>G;PHD finger 1;Clinvar;Likely pathogenic;26" "W1474R;c.4420T>A;PHD finger 1;Clinvar;Uncertain Significance;31" "C1476S;c.4426T>A;PHD finger 1;Clinvar;Uncertain Significance;27.9" "R1636Q;c.4907G>A;Bromodomain;HGMD(Faundes et al 2017);Uncertain Significance;29.5" "S1657A;c.4969T>G;Bromodomain;Clinvar;Uncertain Significance;26.1" "V1726M;c.5176G>A;Bromodomain;Clinvar;Uncertain Significance;32" "P1832T;c.5494C>A;No domain;Clinvar;Likely pathogenic;22.6" "S1861I;c.5582G>T;No domain;Clinvar;Uncertain Significance;26.6" "C1879R;c.5635T>C;No domain;Clinvar;Uncertain Significance;26.8" "G1891V;c.5672G>T;No domain;Jones WD 2017;likely pathogenic;28.2" "H1903R;c.5672G>T;No domain;Jones WD 2017;;25.8" "D1917Y;c.5749G>T;No domain;Jones WD 2017;;29.3" "G1943E;c.5828G>A;PHD finger 4;Clinvar;Likely pathogenic;28.3" "H1958R;c.5873A>G;PHD finger 4;Baer S et al 2018;;26.7" "F1959C;c.5876T>G;PHD finger 4;Clinvar;Uncertain Significance;31" "G2027E;c.6080G>A;FYR-N;Clinvar;Likely pathogenic;33" "F2048V;c.6142T>G;FYR-N;Clinvar;Uncertain Significance;25.9" "S2188C;c.6563C>G;No Domain;Clinvar;Uncertain Significance;26" "E2419K;c.7255G>A;No domain;Lebrun N et al 2018;;25.4" "C2844F;c.8531G>T;No domain;HGMD(Lelieveld et al 2016);;27.7" "L2848P;c.8543T>C;No domain;Clinvar;Likely pathogenic;28.2" "M2853R;c.8558T>G;TAD;Lebrun N et al 2018;;26.8" "N2859K;c.8577T>A;No domain;Jones WD 2017;;22.5" "G3131S;c.9382G>A;No domain;HGMD(Liu et al 2017);benign/likely benign;24.1" "S3147F;c.9440C>T;No domain;Baer S et al 2018;;23.8" "Q3601R;c.10802A>G;No domain;Clinvar;Uncertain Significance;20.6" "L3617P;c.10850T>C;No domain;Baer S et al 2018;;23.5" "R3824W;c.9382G>A;SET domain;HGMD(Faundes et al 2017);Uncetrain significance;32" "G3863S;c.11587G>A;SET domain;Clinvar;Uncertain Significance;29.8" "I3929L;c.11785A>C;SET domain;Clinvar;Likely pathogenic;27.6"