GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
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GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
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GRCh37/hg19 Xp22.11(chrX:22151640-22186506)x1
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NC_000023.10:g.(?_22056567)_(22056675_?)del
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NC_000023.10:g.(?_22065148)_(22117289_?)dup
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NC_000023.10:g.(?_22094486)_(22117289_?)dup
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NC_000023.10:g.(?_22094506)_(22196493_?)dup
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NC_000023.10:g.(?_22108527)_(22151761_?)dup
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NC_000023.10:g.(?_22108537)_(22108625_?)del
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NC_000023.10:g.(?_22112101)_(22112217_?)del
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NC_000023.10:g.(?_22115053)_(22115176_?)del
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NC_000023.10:g.(?_22186409)_(22208639_?)dup
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NC_000023.10:g.(?_22186468)_22186740del
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NC_000023.10:g.(?_22239710)_(22245748_?)dup
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NC_000023.10:g.(?_22263450)_(22263526_?)del
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NC_000023.11:g.(?_22090429)_(22094099_?)del
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NC_000023.11:g.(?_22096955)_(22097038_?)del
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NC_000023.11:g.(?_22168312)_(22190502_?)dup
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NC_000023.11:g.(?_22168312)_(22227611_?)dup
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NC_000023.11:g.(?_22221613)_(22227611_?)dup
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NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
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rs1556026033
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NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)
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rs2147047501
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NM_000444.6(PHEX):c.1080-1_1084del
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NM_000444.6(PHEX):c.1133T>C (p.Leu378Pro)
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rs1930965902
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NM_000444.6(PHEX):c.1173+5G>A
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rs1930971527
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NM_000444.6(PHEX):c.118+2del
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rs1926875686
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NM_000444.6(PHEX):c.1302+1G>T
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rs1131691841
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NM_000444.6(PHEX):c.1302+4_1302+10del
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rs1931151383
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NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)
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rs1057517904
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NM_000444.6(PHEX):c.1334C>A (p.Ala445Asp)
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rs2147086411
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NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
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rs1085308012
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NM_000444.6(PHEX):c.1366T>G (p.Trp456Gly)
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rs1085308012
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NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
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rs886043680
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NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)
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rs374873766
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NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)
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rs754449807
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NM_000444.6(PHEX):c.1405-2_1415del
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NM_000444.6(PHEX):c.1405-3739_1459del
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NM_000444.6(PHEX):c.1415T>A (p.Val472Asp)
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NM_000444.6(PHEX):c.1445_1482+235del
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NM_000444.6(PHEX):c.1482+1G>A
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rs1064793228
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NM_000444.6(PHEX):c.1586+3G>T
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rs2147128300
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NM_000444.6(PHEX):c.1586+6T>G
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rs1057518214
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NM_000444.6(PHEX):c.1627_1645+12del
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rs1934164465
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NM_000444.6(PHEX):c.1640A>C (p.Gln547Pro)
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rs2147139114
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NM_000444.6(PHEX):c.1645+4A>G
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NM_000444.6(PHEX):c.1645+5G>A
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rs1085307522
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NM_000444.6(PHEX):c.1645+5G>C
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rs1085307522
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NM_000444.6(PHEX):c.289_349+836delinsAAGATATGCCT
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rs1927579212
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NM_000444.6(PHEX):c.304G>T (p.Gly102Trp)
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rs1927580756
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NM_000444.6(PHEX):c.332_334del (p.Val111del)
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rs1064795949
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NM_000444.6(PHEX):c.349+1G>C
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rs193922459
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NM_000444.6(PHEX):c.349+2del
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NM_000444.6(PHEX):c.367_370del (p.Ile123fs)
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rs1602273769
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NM_000444.6(PHEX):c.436+1G>C
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rs1057517788
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NM_000444.6(PHEX):c.436+3G>C
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rs2147019311
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NM_000444.6(PHEX):c.436+3G>T
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NM_000444.6(PHEX):c.436+6T>A
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rs1556020485
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NM_000444.6(PHEX):c.467T>G (p.Leu156Arg)
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NM_000444.6(PHEX):c.479T>C (p.Leu160Pro)
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rs2147020424
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NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)
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rs1064796435
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NM_000444.6(PHEX):c.611T>A (p.Ile204Asn)
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rs1085307950
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NM_000444.6(PHEX):c.663G>A (p.Lys221=)
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rs1929220357
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NM_000444.6(PHEX):c.664-2A>C
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rs1131692026
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NM_000444.6(PHEX):c.758TGG[1] (p.Val254del)
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rs1064796391
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NM_000444.6(PHEX):c.759G>A (p.Met253Ile)
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rs267606946
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NM_000444.6(PHEX):c.770C>A (p.Ala257Asp)
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NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)
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rs2147040261
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NM_000444.6(PHEX):c.850-10_858del
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NM_000444.6(PHEX):c.914T>C (p.Leu305Pro)
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NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)
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rs1064796929
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NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
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rs1556025968
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