GRCh37/hg19 4q25(chr4:111528916-111888401)x1
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GRCh37/hg19 6p25.3(chr6:491126-1624775)
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GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
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GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1
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NC_000004.11:g.(?_111539281)_(111554154_?)del
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NC_000004.12:g.(?_110618049)_(110622472_?)del
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NC_000004.12:g.(?_110618105)_(110633018_?)del
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NC_000006.11:g.(?_1609367)_(1610939_?)del
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NC_000006.11:g.(?_1610666)_(1612017_?)del
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NC_000006.11:g.(?_1610681)_(1612342_?)del
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NC_000006.12:g.(?_1610426)_(1612841_?)del
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NC_000006.12:g.(?_1610445)_(1612107_?)del
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NM_000325.6(PITX2):c.220C>T (p.Gln74Ter)
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NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)
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NM_000325.6(PITX2):c.264del (p.Lys89fs)
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rs1729007624
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NM_000325.6(PITX2):c.286C>T (p.Arg96Trp)
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rs2110435742
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NM_000325.6(PITX2):c.289_309dup (p.Gln103_Leu104insThrHisPheThrSerGlnGln)
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NM_000325.6(PITX2):c.293dup (p.His98fs)
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NM_000325.6(PITX2):c.302_303del (p.Ser101fs)
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NM_000325.6(PITX2):c.316G>T (p.Glu106Ter)
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rs1051887
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NM_000325.6(PITX2):c.320T>A (p.Leu107Gln)
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rs104893857
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NM_000325.6(PITX2):c.343_364del (p.Arg115fs)
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rs1057519483
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NM_000325.6(PITX2):c.344G>A (p.Arg115His)
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rs104893862
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NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)
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NM_000325.6(PITX2):c.350C>T (p.Pro117Leu)
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rs1057519484
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NM_000325.6(PITX2):c.361A>C (p.Thr121Pro)
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rs104893858
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NM_000325.6(PITX2):c.373del (p.Ile125fs)
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rs1729001104
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NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)
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NM_000325.6(PITX2):c.383G>A (p.Trp128Ter)
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rs1729000976
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NM_000325.6(PITX2):c.384G>A (p.Trp128Ter)
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NM_000325.6(PITX2):c.406G>C (p.Val136Leu)
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rs121909249
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NM_000325.6(PITX2):c.411+1G>A
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rs1728998905
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NM_000325.6(PITX2):c.411+2T>G
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rs1578450728
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NM_000325.6(PITX2):c.411+5G>C
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rs1560590094
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NM_000325.6(PITX2):c.412-11A>G
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rs1198152064
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NM_000325.6(PITX2):c.412-1G>A
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NM_000325.6(PITX2):c.412-2A>G
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rs1553922583
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NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)
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rs772800095
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NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)
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NM_000325.6(PITX2):c.421A>G (p.Lys141Glu)
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rs387906810
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NM_000325.6(PITX2):c.428G>C (p.Arg143Pro)
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NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)
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rs104893859
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NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)
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rs104893859
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NM_000325.6(PITX2):c.448_449del (p.Arg150fs)
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rs2110432091
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NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)
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NM_000325.6(PITX2):c.503_506del (p.Asn168fs)
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NM_000325.6(PITX2):c.515del (p.Gln172fs)
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NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter)
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rs951710742
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NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer)
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rs1728873590
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NM_000325.6(PITX2):c.525del (p.Asp175fs)
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NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter)
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rs1578446544
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NM_000325.6(PITX2):c.557G>A (p.Trp186Ter)
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NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)
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rs104893860
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NM_000325.6(PITX2):c.663del (p.Asn222fs)
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NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer)
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rs2110431524
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NM_000325.6(PITX2):c.714_735del (p.Thr239fs)
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rs1057519487
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NM_000325.6(PITX2):c.784_785del (p.Ser262fs)
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rs1057519488
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NM_000325.6(PITX2):c.790del (p.Val264fs)
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NM_000325.6(PITX2):c.791_792dup (p.Pro265fs)
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NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)
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rs1057519489
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NM_000325.6(PITX2):c.867_889del (p.Ser290fs)
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NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)
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rs1057519471
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NM_001453.3(FOXC1):c.104_105insT (p.Gly36fs)
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NM_001453.3(FOXC1):c.104del (p.Gly35fs)
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NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)
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NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)
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NM_001453.3(FOXC1):c.1149_1158dup (p.Ala387fs)
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NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)
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NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)
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rs1057519472
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NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)
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NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)
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NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)
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rs1057519482
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NM_001453.3(FOXC1):c.135dup (p.Val46fs)
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NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter)
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rs1297907614
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NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter)
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rs372857241
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NM_001453.3(FOXC1):c.1430del (p.Gln477fs)
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NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter)
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rs1408057194
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NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)
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rs760676014
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NM_001453.3(FOXC1):c.1508del (p.Asn503fs)
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NM_001453.3(FOXC1):c.163C>T (p.Gln55Ter)
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NM_001453.3(FOXC1):c.173del (p.Gly58fs)
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NM_001453.3(FOXC1):c.176dup (p.Met60fs)
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NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter)
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rs368260972
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NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)
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NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
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NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)
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NM_001453.3(FOXC1):c.244dup (p.Ser82fs)
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rs2113111289
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NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)
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rs104893953
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NM_001453.3(FOXC1):c.246C>A (p.Ser82Arg)
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rs376405759
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NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg)
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rs376405759
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NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)
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NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)
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rs886039568
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NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del)
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rs2113111322
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NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)
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NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)
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NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro)
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rs2113111355
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NM_001453.3(FOXC1):c.301_331del (p.Leu101fs)
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rs1762521548
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NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)
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rs1057519475
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NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)
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rs104893951
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NM_001453.3(FOXC1):c.354del (p.Asn118fs)
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NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)
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rs121909339
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NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)
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NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter)
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rs1762522833
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NM_001453.3(FOXC1):c.380G>A (p.Arg127His)
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rs1085307884
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NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)
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rs121909338
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NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)
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NM_001453.3(FOXC1):c.392C>G (p.Ser131Trp)
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rs104893957
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NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu)
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rs104893957
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NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys)
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rs562467758
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NM_001453.3(FOXC1):c.405C>A (p.Cys135Ter)
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rs2230096
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NM_001453.3(FOXC1):c.409_411del (p.Val137del)
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rs1554100963
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NM_001453.3(FOXC1):c.451dup (p.Tyr151fs)
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rs1762525473
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NM_001453.3(FOXC1):c.453C>G (p.Tyr151Ter)
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NM_001453.3(FOXC1):c.474dup (p.Tyr159fs)
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NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)
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NM_001453.3(FOXC1):c.502del (p.Leu168fs)
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NM_001453.3(FOXC1):c.504GCG[4] (p.Arg173del)
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rs1183655796
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NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp)
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rs1581373890
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NM_001453.3(FOXC1):c.51del (p.Tyr18fs)
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rs2113110720
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NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)
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rs1057519478
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NM_001453.3(FOXC1):c.65dup (p.Gln23fs)
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NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)
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rs1057519479
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NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)
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rs104893952
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NM_001453.3(FOXC1):c.712C>T (p.Gln238Ter)
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rs2113112422
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NM_001453.3(FOXC1):c.712dup (p.Gln238fs)
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rs1762534894
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NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)
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rs1057519480
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NM_001453.3(FOXC1):c.752_759del (p.Ala251fs)
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rs1762536800
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NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter)
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rs1554101000
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NM_001453.3(FOXC1):c.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer)
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NM_001453.3(FOXC1):c.796dup (p.Ser266fs)
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NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)
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NM_001453.3(FOXC1):c.81_100del (p.Ala28fs)
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rs2113110795
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NM_001453.3(FOXC1):c.821del (p.Pro274fs)
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NM_001453.3(FOXC1):c.821dup (p.Ser276fs)
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rs2113112720
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NM_001453.3(FOXC1):c.90del (p.Ala31fs)
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NM_001453.3(FOXC1):c.915_918dup (p.Gly307fs)
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NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)
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rs1057519481
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NM_001453.3(FOXC1):c.957del (p.Ser320fs)
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rs1241813534
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NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)
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NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)
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NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)
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rs2113110837
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Single allele
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der(6)t(6;10)(p25.2;q26.3)
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