NM_000444.6(PHEX):c.2070+325C>T
|
rs5904628
|
0.38025
|
NM_000444.6(PHEX):c.1769-173T>C
|
rs3752432
|
0.37792
|
NM_000444.6(PHEX):c.2147+195T>C
|
rs2071584
|
0.37149
|
NM_000444.6(PHEX):c.1700+175dup
|
rs11416169
|
0.36527
|
NM_000444.6(PHEX):c.1769-10C>T
|
rs3752433
|
0.33899
|
NM_000444.6(PHEX):c.1899+304T>C
|
rs5951517
|
0.33355
|
NM_000444.6(PHEX):c.1701-341T>G
|
rs2285074
|
0.32458
|
NM_000444.6(PHEX):c.2148-179A>T
|
rs5951738
|
0.14069
|
NM_000444.6(PHEX):c.2148-302A>G
|
rs967195
|
0.11560
|
NM_000444.6(PHEX):c.1966-11T>C
|
rs12014792
|
0.09259
|
NM_000444.6(PHEX):c.1701-207A>G
|
rs28453897
|
0.05642
|
NM_000444.6(PHEX):c.1966-302C>T
|
rs16981873
|
0.03629
|
NM_000444.6(PHEX):c.1899+91G>A
|
rs141574844
|
0.01947
|
NM_000444.6(PHEX):c.1700+264C>T
|
rs143761086
|
0.01822
|
NM_000444.6(PHEX):c.2148-335C>T
|
rs145741977
|
0.01383
|
NM_000444.6(PHEX):c.1900-211G>A
|
rs16981867
|
0.01069
|
NM_000444.6(PHEX):c.*218A>C
|
rs141594056
|
0.00645
|
NM_000444.6(PHEX):c.2147+170A>G
|
rs147560997
|
0.00637
|
NM_000444.6(PHEX):c.2148-48T>G
|
rs186950858
|
0.00469
|
NM_000444.6(PHEX):c.1966-36G>A
|
rs149937313
|
0.00458
|
NM_000444.6(PHEX):c.2015T>C (p.Leu672Pro)
|
rs896575405
|
0.00001
|
NM_000444.6(PHEX):c.1646-265A>G
|
rs5904512
|
|
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu)
|
rs1064794306
|
|
NM_000444.6(PHEX):c.1660G>T (p.Glu554Ter)
|
rs1064797001
|
|
NM_000444.6(PHEX):c.1685dup (p.Thr563fs)
|
rs886041837
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.1700+1G>T
|
rs1057520582
|
|
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro)
|
rs760870713
|
|
NM_000444.6(PHEX):c.1701-2A>G
|
rs886041683
|
|
NM_000444.6(PHEX):c.1706dup (p.Ser570fs)
|
rs1556135252
|
|
NM_000444.6(PHEX):c.1713T>G (p.Tyr571Ter)
|
rs886041762
|
|
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser)
|
rs1064795106
|
|
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp)
|
rs1057517795
|
|
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val)
|
rs1057517795
|
|
NM_000444.6(PHEX):c.1717G>C (p.Ala573Pro)
|
rs1057520756
|
|
NM_000444.6(PHEX):c.1719dup (p.Ile574fs)
|
rs1556135320
|
|
NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg)
|
rs1131692029
|
|
NM_000444.6(PHEX):c.1727_1738del (p.Val576_His580delinsAsp)
|
rs1057517979
|
|
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu)
|
rs1057517980
|
|
NM_000444.6(PHEX):c.1736G>T (p.Gly579Val)
|
rs1057517980
|
|
NM_000444.6(PHEX):c.1739A>G (p.His580Arg)
|
rs1057521800
|
|
NM_000444.6(PHEX):c.1765_1768del (p.Asn589fs)
|
rs1064794305
|
|
NM_000444.6(PHEX):c.1768+1G>C
|
rs886041296
|
|
NM_000444.6(PHEX):c.1768+2del
|
rs1064793918
|
|
NM_000444.6(PHEX):c.1768+2dup
|
rs1057517796
|
|
NM_000444.6(PHEX):c.1768+5G>T
|
rs1057524608
|
|
NM_000444.6(PHEX):c.1769-1G>C
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1779T>G (p.Tyr593Ter)
|
rs1935269189
|
|
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)
|
rs886041364
|
|
NM_000444.6(PHEX):c.1800dup (p.Pro601fs)
|
rs886041726
|
|
NM_000444.6(PHEX):c.1805G>A (p.Trp602Ter)
|
rs1569431986
|
|
NM_000444.6(PHEX):c.1806G>A (p.Trp602Ter)
|
rs886041365
|
|
NM_000444.6(PHEX):c.1809G>A (p.Trp603Ter)
|
rs755686699
|
|
NM_000444.6(PHEX):c.1828_1829dup (p.Phe611fs)
|
rs886041763
|
|
NM_000444.6(PHEX):c.1828_1832dup (p.Phe611fs)
|
rs1131691645
|
|
NM_000444.6(PHEX):c.1843dup (p.Thr615fs)
|
rs886041366
|
|
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)
|
rs886041367
|
|
NM_000444.6(PHEX):c.1866T>C (p.Tyr622=)
|
rs375441152
|
|
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter)
|
rs1400504292
|
|
NM_000444.6(PHEX):c.1880G>A (p.Trp627Ter)
|
rs1085307584
|
|
NM_000444.6(PHEX):c.1900-121_1900-120insATGA
|
rs386416729
|
|
NM_000444.6(PHEX):c.1900-122_1900-119dup
|
rs35486190
|
|
NM_000444.6(PHEX):c.1900-1G>A
|
rs755406730
|
|
NM_000444.6(PHEX):c.1900-20del
|
rs68100043
|
|
NM_000444.6(PHEX):c.1900-232A>G
|
rs5904627
|
|
NM_000444.6(PHEX):c.1900-38G>T
|
rs141696848
|
|
NM_000444.6(PHEX):c.1935_1938dup (p.Asn647Ter)
|
rs886041269
|
|
NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer)
|
rs886041368
|
|
NM_000444.6(PHEX):c.1961_1963delinsCT (p.Phe654fs)
|
rs1064796436
|
|
NM_000444.6(PHEX):c.1966-1G>C
|
rs1064795147
|
|
NM_000444.6(PHEX):c.1966_1969dup (p.Tyr657fs)
|
rs1556151046
|
|
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)
|
rs886041369
|
|
NM_000444.6(PHEX):c.1989_1990del (p.Asp663fs)
|
rs886041371
|
|
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
|
|
|
NM_000444.6(PHEX):c.2028_2032dup (p.Phe678fs)
|
rs1057518246
|
|
NM_000444.6(PHEX):c.2048_2051dup (p.Phe685fs)
|
rs886041840
|
|
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)
|
rs886041372
|
|
NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg)
|
rs1064794849
|
|
NM_000444.6(PHEX):c.2064T>A (p.Tyr688Ter)
|
rs886041373
|
|
NM_000444.6(PHEX):c.2070+1G>A
|
rs1057518596
|
|
NM_000444.6(PHEX):c.2070+251_2070+254dup
|
rs3838957
|
|
NM_000444.6(PHEX):c.2070+317G>A
|
rs3795242
|
|
NM_000444.6(PHEX):c.2070+5G>C
|
rs1057517797
|
|
NM_000444.6(PHEX):c.2071-1G>A
|
rs886041374
|
|
NM_000444.6(PHEX):c.2071-4C>G
|
rs1556200956
|
|
NM_000444.6(PHEX):c.2071-5T>A
|
rs1556200942
|
|
NM_000444.6(PHEX):c.2071-5_2071-4delinsAG
|
rs1556200949
|
|
NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg)
|
rs1064794999
|
|
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)
|
rs1064796845
|
|
NM_000444.6(PHEX):c.2096A>T (p.Glu699Val)
|
rs2147214010
|
|
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
|
rs886041226
|
|
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs)
|
rs1064796540
|
|
NM_000444.6(PHEX):c.2138del (p.Pro713fs)
|
rs886041375
|
|
NM_000444.6(PHEX):c.2138dup (p.Gln714fs)
|
rs886041375
|
|
NM_000444.6(PHEX):c.2147+1G>A
|
rs886041768
|
|
NM_000444.6(PHEX):c.2147+2_2147+9del
|
rs1064796434
|
|
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu)
|
rs1057517798
|
|
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer)
|
rs1556205980
|
|
NM_000444.6(PHEX):c.2193del (p.Phe731fs)
|
rs886041631
|
|
NM_000444.6(PHEX):c.2197T>C (p.Cys733Arg)
|
rs1064794150
|
|
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe)
|
rs1057517799
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000444.6(PHEX):c.2244_2245del (p.Trp749fs)
|
rs1057517800
|
|