NM_000444.6(PHEX):c.*231A>G
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rs946863800
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0.00001
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NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
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NC_000023.10:g.(22237221_22239729)_(22266070_?)del
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NC_000023.10:g.(22239861_22244559)_(22266070_?)del
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NC_000023.10:g.(22245729_22263449)_(22266070_?)del
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NM_000444.6(PHEX):c.1646-2A>C
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rs2147164011
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NM_000444.6(PHEX):c.1646-2A>G
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rs2147164011
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NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro)
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rs1602395717
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NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)
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rs1556128043
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NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)
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rs137853270
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NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
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rs137853271
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NM_000444.6(PHEX):c.1700+2T>C
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rs1556128253
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NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
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NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)
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rs1556135242
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NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)
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rs1556135308
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NM_000444.6(PHEX):c.1718del (p.Ala573fs)
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rs2147171155
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NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)
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rs875989883
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NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg)
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rs875989883
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NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter)
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rs1602402229
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NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)
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rs1556135467
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NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)
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rs1556135477
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NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser)
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rs772130004
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NM_000444.6(PHEX):c.1768+1G>A
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rs886041296
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NM_000444.6(PHEX):c.1768+1G>C
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rs886041296
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NM_000444.6(PHEX):c.1768+5G>A
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rs1057524608
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NM_000444.6(PHEX):c.1769-1G>A
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rs1602405079
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NM_000444.6(PHEX):c.1769-1G>C
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rs1602405079
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NM_000444.6(PHEX):c.1769-1G>T
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rs1602405079
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NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)
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rs1556138407
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NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)
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rs1935269189
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NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)
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rs886041364
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NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
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NM_000444.6(PHEX):c.1809dup (p.Ser604fs)
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rs1602405176
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NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)
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rs1602405239
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NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer)
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rs1556138590
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NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)
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rs2147174526
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NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)
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rs886041367
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NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)
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rs2147174569
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NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
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NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)
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NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)
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rs1556138742
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NM_000444.6(PHEX):c.1899+1G>A
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rs1556138769
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NM_000444.6(PHEX):c.1899+2113_1957del
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NM_000444.6(PHEX):c.1899+2T>G
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rs1602405375
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NM_000444.6(PHEX):c.1910dup (p.Arg638fs)
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rs1556148392
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NM_000444.6(PHEX):c.1920_1929del (p.Gly641fs)
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rs2147183119
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NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
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NM_000444.6(PHEX):c.1936G>C (p.Asp646His)
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rs1556148532
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NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro)
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rs748792378
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NM_000444.6(PHEX):c.1965+1G>A
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rs1240767654
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NM_000444.6(PHEX):c.1965+1del
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rs1569434045
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NM_000444.6(PHEX):c.1966-1G>A
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rs1064795147
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NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys)
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rs2147184570
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NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter)
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rs1556151071
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NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
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NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)
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rs886041369
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NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)
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rs1556151137
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NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)
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rs1556151545
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NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)
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rs886041372
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NM_000444.6(PHEX):c.2071-1G>A
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rs886041374
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NM_000444.6(PHEX):c.2071-1G>C
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rs886041374
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NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)
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rs1556200989
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NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs)
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rs2147213985
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NM_000444.6(PHEX):c.2093del (p.Pro698fs)
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rs1556201034
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NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
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rs886041226
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NM_000444.6(PHEX):c.2125del (p.Ala709fs)
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rs1602439597
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NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)
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rs2147214114
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NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg)
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rs1602439611
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NM_000444.6(PHEX):c.2139del (p.Gln714fs)
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rs2147214136
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NM_000444.6(PHEX):c.2147+2T>G
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rs1602439662
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NM_000444.6(PHEX):c.2147+3A>T
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rs1556201217
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NM_000444.6(PHEX):c.2148-2A>G
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rs1556205815
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NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter)
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rs1057518896
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NM_000444.6(PHEX):c.2193del (p.Phe731fs)
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rs886041631
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NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)
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rs1057517981
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NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)
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rs1556206093
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NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
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rs886041227
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NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs)
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rs1556206335
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NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)
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rs1556206403
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Single allele
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