NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000444.6(PHEX):c.101del (p.Gly34fs)
|
rs1602241023
|
|
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
|
rs1556026033
|
|
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter)
|
rs773436322
|
|
NM_000444.6(PHEX):c.1044del (p.Asp349fs)
|
rs1556026042
|
|
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)
|
rs2147047501
|
|
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)
|
rs1602303865
|
|
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)
|
rs1602304005
|
|
NM_000444.6(PHEX):c.1173+1G>A
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1174-1G>A
|
rs2147065556
|
|
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
|
rs1602307078
|
|
NM_000444.6(PHEX):c.1215del (p.Lys405fs)
|
rs1602307094
|
|
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)
|
rs1602307107
|
|
NM_000444.6(PHEX):c.1266del (p.Phe422fs)
|
rs2147065739
|
|
NM_000444.6(PHEX):c.1302+2T>A
|
rs2147065825
|
|
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)
|
rs1341755128
|
|
NM_000444.6(PHEX):c.1324del (p.Val442fs)
|
rs1602324484
|
|
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)
|
rs2147086395
|
|
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1404+1G>C
|
rs2147086611
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.1425del (p.Val476fs)
|
rs1602354302
|
|
NM_000444.6(PHEX):c.1482dup (p.Ile495fs)
|
rs2147118855
|
|
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
|
rs1602363343
|
|
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)
|
rs2147128134
|
|
NM_000444.6(PHEX):c.1586+2T>G
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000444.6(PHEX):c.1586+5G>A
|
rs1602363550
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
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.1706T>C (p.Leu569Pro)
|
rs1556135242
|
|
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys)
|
rs1064795106
|
|
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val)
|
rs1556135308
|
|
NM_000444.6(PHEX):c.1718del (p.Ala573fs)
|
rs2147171155
|
|
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.1768+1G>A
|
rs886041296
|
|
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.1809dup (p.Ser604fs)
|
rs1602405176
|
|
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)
|
rs1602405239
|
|
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.185dup (p.Ala63fs)
|
rs1602244836
|
|
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro)
|
rs1602405293
|
|
NM_000444.6(PHEX):c.187+1G>C
|
rs1556012100
|
|
NM_000444.6(PHEX):c.188-1G>C
|
rs1927567325
|
|
NM_000444.6(PHEX):c.1899+1G>A
|
rs1556138769
|
|
NM_000444.6(PHEX):c.1899+2T>G
|
rs1602405375
|
|
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup)
|
rs1602411514
|
|
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)
|
rs1556151137
|
|
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del)
|
rs1602412679
|
|
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)
|
rs2146987638
|
|
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)
|
rs886041372
|
|
NM_000444.6(PHEX):c.2071-1G>C
|
rs886041374
|
|
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.20_21del (p.Ser7fs)
|
rs1602240926
|
|
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.2147+2T>G
|
rs1602439662
|
|
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg)
|
rs1602442819
|
|
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp)
|
rs1602442871
|
|
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser)
|
rs137853269
|
|
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe)
|
rs137853269
|
|
NM_000444.6(PHEX):c.305G>T (p.Gly102Val)
|
rs2146987874
|
|
NM_000444.6(PHEX):c.349+1G>A
|
rs193922459
|
|
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)
|
rs1602273769
|
|
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)
|
rs2146974254
|
|
NM_000444.6(PHEX):c.3G>A (p.Met1Ile)
|
rs1926865530
|
|
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro)
|
rs2147019252
|
|
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)
|
rs1602273900
|
|
NM_000444.6(PHEX):c.436+4A>T
|
rs1057520344
|
|
NM_000444.6(PHEX):c.436+5G>T
|
rs1602273945
|
|
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter)
|
rs1929202828
|
|
NM_000444.6(PHEX):c.468del (p.Leu157fs)
|
rs2147020412
|
|
NM_000444.6(PHEX):c.535del (p.Val179fs)
|
rs2147020604
|
|
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)
|
rs1602274883
|
|
NM_000444.6(PHEX):c.559del (p.Leu187fs)
|
rs1602274893
|
|
NM_000444.6(PHEX):c.582del (p.Arg195fs)
|
rs1602274929
|
|
NM_000444.6(PHEX):c.591A>G (p.Gln197=)
|
rs1556020818
|
|
NM_000444.6(PHEX):c.593del (p.Tyr198fs)
|
rs1602274950
|
|
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)
|
rs771208171
|
|
NM_000444.6(PHEX):c.663G>A (p.Lys221=)
|
rs1929220357
|
|
NM_000444.6(PHEX):c.664-1G>T
|
rs886041529
|
|
NM_000444.6(PHEX):c.673del (p.Ala225fs)
|
rs2147035468
|
|
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)
|
rs2147035526
|
|
NM_000444.6(PHEX):c.732+3_732+6del
|
rs2147035589
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
|
rs1602240890
|
|
NM_000444.6(PHEX):c.849_849+2del
|
rs1602288211
|
|
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
|
rs1602290398
|
|
NM_000444.6(PHEX):c.933+2T>A
|
rs2147043777
|
|
NM_000444.6(PHEX):c.934-1G>T
|
rs1602292528
|
|
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
|
rs1556025968
|
|
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)
|
rs1556025976
|
|
NM_000444.6(PHEX):c.985del (p.His329fs)
|
rs1556025994
|
|