NM_000444.6(PHEX):c.1769-10C>T
|
rs3752433
|
0.33899
|
NM_000444.6(PHEX):c.1966-11T>C
|
rs12014792
|
0.09259
|
NM_000444.6(PHEX):c.*218A>C
|
rs141594056
|
0.00645
|
NM_000444.6(PHEX):c.*58C>T
|
rs183223600
|
0.00262
|
NM_000444.6(PHEX):c.2214G>A (p.Thr738=)
|
rs140742016
|
0.00035
|
NM_000444.6(PHEX):c.*227C>G
|
rs765787001
|
0.00033
|
NM_000444.6(PHEX):c.2068C>A (p.His690Asn)
|
rs200733697
|
0.00014
|
NM_000444.6(PHEX):c.*339A>G
|
rs773553690
|
0.00012
|
NM_000444.6(PHEX):c.*361T>C
|
rs182654518
|
0.00008
|
NM_000444.6(PHEX):c.*360A>C
|
rs1012718966
|
0.00005
|
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)
|
rs371825581
|
0.00003
|
NM_000444.6(PHEX):c.*305G>A
|
rs189715720
|
0.00002
|
NM_000444.6(PHEX):c.*48G>A
|
rs765479131
|
0.00002
|
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val)
|
rs773244112
|
0.00002
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His)
|
rs1036644594
|
0.00001
|
NM_000444.6(PHEX):c.1966-10C>G
|
rs771050789
|
0.00001
|
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
|
|
|
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
|
|
|
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
|
|
|
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
|
|
|
NM_000444.6(PHEX):c.*250A>C
|
rs1057515844
|
|
NM_000444.6(PHEX):c.*388A>G
|
rs759086924
|
|
NM_000444.6(PHEX):c.1646-2A>C
|
rs2147164011
|
|
NM_000444.6(PHEX):c.1646-2A>G
|
rs2147164011
|
|
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro)
|
rs1602395717
|
|
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)
|
rs1556128043
|
|
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)
|
rs137853270
|
|
NM_000444.6(PHEX):c.1677_1680del (p.Phe560fs)
|
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.1700+2T>C
|
rs1556128253
|
|
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
|
|
|
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)
|
rs1556135242
|
|
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys)
|
rs1064795106
|
|
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)
|
rs1556135308
|
|
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val)
|
rs1556135308
|
|
NM_000444.6(PHEX):c.1718del (p.Ala573fs)
|
rs2147171155
|
|
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1739A>G (p.His580Arg)
|
rs1057521800
|
|
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter)
|
rs1602402229
|
|
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr)
|
rs1602402258
|
|
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)
|
rs1556135467
|
|
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)
|
rs1556135477
|
|
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser)
|
rs772130004
|
|
NM_000444.6(PHEX):c.1768+173A>G
|
rs1602402549
|
|
NM_000444.6(PHEX):c.1768+1G>A
|
rs886041296
|
|
NM_000444.6(PHEX):c.1768+5G>A
|
rs1057524608
|
|
NM_000444.6(PHEX):c.1769-1G>A
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1769-1G>C
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1769-1G>T
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)
|
rs1556138407
|
|
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)
|
rs1935269189
|
|
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)
|
rs886041364
|
|
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
|
|
|
NM_000444.6(PHEX):c.1809dup (p.Ser604fs)
|
rs1602405176
|
|
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)
|
rs1602405239
|
|
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer)
|
rs1556138590
|
|
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)
|
rs2147174526
|
|
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)
|
rs886041367
|
|
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)
|
rs2147174569
|
|
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
|
|
|
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro)
|
rs1602405293
|
|
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)
|
|
|
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter)
|
rs1400504292
|
|
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)
|
rs1556138742
|
|
NM_000444.6(PHEX):c.1899+1G>A
|
rs1556138769
|
|
NM_000444.6(PHEX):c.1899+2113_1957del
|
|
|
NM_000444.6(PHEX):c.1899+2T>G
|
rs1602405375
|
|
NM_000444.6(PHEX):c.1910dup (p.Arg638fs)
|
rs1556148392
|
|
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
|
|
|
NM_000444.6(PHEX):c.1936G>C (p.Asp646His)
|
rs1556148532
|
|
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
|
|
|
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)
|
rs193922456
|
|
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup)
|
rs1602411514
|
|
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro)
|
rs748792378
|
|
NM_000444.6(PHEX):c.1965+1G>A
|
rs1240767654
|
|
NM_000444.6(PHEX):c.1966-1G>T
|
rs1064795147
|
|
NM_000444.6(PHEX):c.1966-9_1966-7del
|
rs1556151004
|
|
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter)
|
rs1556151071
|
|
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
|
|
|
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)
|
rs886041369
|
|
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)
|
rs1556151137
|
|
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)
|
|
|
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)
|
rs193922457
|
|
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del)
|
rs1602412679
|
|
NM_000444.6(PHEX):c.2008G>A (p.Glu670Lys)
|
rs2147184646
|
|
NM_000444.6(PHEX):c.2009A>T (p.Glu670Val)
|
rs2147184651
|
|
NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)
|
|
|
NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys)
|
rs1556151526
|
|
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)
|
rs1556151545
|
|
NM_000444.6(PHEX):c.2052C>T (p.Phe684=)
|
rs373674171
|
|
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)
|
rs886041372
|
|
NM_000444.6(PHEX):c.2071-1G>A
|
rs886041374
|
|
NM_000444.6(PHEX):c.2071-1G>C
|
rs886041374
|
|
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)
|
rs1556200989
|
|
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser)
|
rs1556200989
|
|
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)
|
rs1064796845
|
|
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs)
|
rs2147213985
|
|
NM_000444.6(PHEX):c.2093del (p.Pro698fs)
|
rs1556201034
|
|
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
|
rs886041226
|
|
NM_000444.6(PHEX):c.2125del (p.Ala709fs)
|
rs1602439597
|
|
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)
|
rs2147214114
|
|
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg)
|
rs1602439611
|
|
NM_000444.6(PHEX):c.2139del (p.Gln714fs)
|
rs2147214136
|
|
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)
|
rs1569442206
|
|
NM_000444.6(PHEX):c.2147+2T>G
|
rs1602439662
|
|
NM_000444.6(PHEX):c.2147+3A>T
|
rs1556201217
|
|
NM_000444.6(PHEX):c.2148-2A>G
|
rs1556205815
|
|
NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)
|
|
|
NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala)
|
|
|
NM_000444.6(PHEX):c.2193del (p.Phe731fs)
|
rs886041631
|
|
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)
|
rs1556206093
|
|
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg)
|
rs1602442819
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs)
|
rs1556206335
|
|
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)
|
rs1556206403
|
|
NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)
|
|
|
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp)
|
rs1602442871
|
|
Single allele
|
|
|