NM_000444.6(PHEX):c.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
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NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)
|
rs145778165
|
0.00021
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NM_000444.6(PHEX):c.185C>T (p.Ala62Val)
|
rs145393882
|
0.00012
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NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn)
|
rs373235530
|
0.00002
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NM_000444.6(PHEX):c.1328G>A (p.Arg443His)
|
rs1285918997
|
0.00001
|
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)
|
rs766990714
|
0.00001
|
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala)
|
rs201394441
|
0.00001
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NM_000444.6(PHEX):c.827G>A (p.Arg276Lys)
|
rs776124957
|
0.00001
|
NC_000023.10:g.(?_22050695)_(22051261_?)dup
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NC_000023.10:g.(?_22056567)_(22266301_?)dup
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NC_000023.10:g.(?_22108527)_(22108635_?)dup
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NC_000023.10:g.(?_22108527)_(22186526_?)dup
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NC_000023.10:g.(?_22186409)_(22266301_?)dup
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NC_000023.10:g.(?_22231001)_(22266301_?)dup
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NC_000023.10:g.(?_22263430)_(22266301_?)dup
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NC_000023.11:g.(?_22133523)_(22168389_?)dup
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NC_000023.11:g.(?_22133523)_(22227611_?)dup
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NC_000023.11:g.(?_22178273)_(22190502_?)dup
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NM_000444.6(PHEX):c.-429T>C
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|
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NM_000444.6(PHEX):c.1017GGT[1] (p.Val341del)
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rs1930299982
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NM_000444.6(PHEX):c.1080-10_1080-9delinsTA
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|
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NM_000444.6(PHEX):c.1091_1099dup (p.Leu366_Val367insAspTyrLeu)
|
rs1930962739
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NM_000444.6(PHEX):c.109C>G (p.Leu37Val)
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|
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NM_000444.6(PHEX):c.1111G>A (p.Val371Ile)
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NM_000444.6(PHEX):c.1154G>A (p.Arg385Lys)
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NM_000444.6(PHEX):c.1174-14A>G
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NM_000444.6(PHEX):c.1196T>C (p.Leu399Ser)
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|
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NM_000444.6(PHEX):c.1220T>G (p.Val407Gly)
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rs764695823
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NM_000444.6(PHEX):c.1249G>A (p.Val417Ile)
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NM_000444.6(PHEX):c.1250T>G (p.Val417Gly)
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NM_000444.6(PHEX):c.1263G>A (p.Met421Ile)
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NM_000444.6(PHEX):c.1268T>C (p.Val423Ala)
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NM_000444.6(PHEX):c.1302G>A (p.Met434Ile)
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NM_000444.6(PHEX):c.1303-3T>C
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NM_000444.6(PHEX):c.1304T>G (p.Met435Arg)
|
rs1932101873
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NM_000444.6(PHEX):c.1324G>T (p.Val442Phe)
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rs777167473
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NM_000444.6(PHEX):c.1325T>A (p.Val442Asp)
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|
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NM_000444.6(PHEX):c.1328G>C (p.Arg443Pro)
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rs1285918997
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NM_000444.6(PHEX):c.1347G>A (p.Met449Ile)
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|
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NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
|
rs1085308012
|
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NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
|
rs886043680
|
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NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)
|
rs374873766
|
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NM_000444.6(PHEX):c.1394C>A (p.Ala465Asp)
|
rs1932109437
|
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NM_000444.6(PHEX):c.1396A>C (p.Lys466Gln)
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|
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NM_000444.6(PHEX):c.1402A>G (p.Lys468Glu)
|
rs1602324630
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NM_000444.6(PHEX):c.1454A>G (p.Asp485Gly)
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NM_000444.6(PHEX):c.1501_1506del (p.Asp501_Tyr502del)
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rs2147128100
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NM_000444.6(PHEX):c.1516G>A (p.Val506Ile)
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NM_000444.6(PHEX):c.1519C>G (p.Leu507Val)
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rs1933773605
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NM_000444.6(PHEX):c.1520T>C (p.Leu507Pro)
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rs1933773762
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NM_000444.6(PHEX):c.1532A>C (p.Lys511Thr)
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NM_000444.6(PHEX):c.1573G>A (p.Val525Ile)
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NM_000444.6(PHEX):c.1586+3_1586+6del
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rs886042234
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NM_000444.6(PHEX):c.1586+5G>C
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NM_000444.6(PHEX):c.1604C>T (p.Thr535Met)
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NM_000444.6(PHEX):c.1625G>C (p.Ser542Thr)
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NM_000444.6(PHEX):c.1638C>A (p.Asn546Lys)
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NM_000444.6(PHEX):c.1645+4A>C
|
rs2147139133
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NM_000444.6(PHEX):c.1645+6T>A
|
rs1556092037
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NM_000444.6(PHEX):c.184G>A (p.Ala62Thr)
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|
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NM_000444.6(PHEX):c.186G>A (p.Ala62=)
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NM_000444.6(PHEX):c.187+3_187+6del
|
rs2146979608
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NM_000444.6(PHEX):c.239T>C (p.Phe80Ser)
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|
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NM_000444.6(PHEX):c.241T>C (p.Phe81Leu)
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rs1927572565
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NM_000444.6(PHEX):c.245G>T (p.Arg82Leu)
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|
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NM_000444.6(PHEX):c.250G>A (p.Ala84Thr)
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NM_000444.6(PHEX):c.251C>A (p.Ala84Asp)
|
rs1556014284
|
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NM_000444.6(PHEX):c.286G>A (p.Glu96Lys)
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|
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NM_000444.6(PHEX):c.328_330del (p.Asn110del)
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|
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NM_000444.6(PHEX):c.332_334del (p.Val111del)
|
rs1064795949
|
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NM_000444.6(PHEX):c.33T>C (p.Thr11=)
|
rs886043583
|
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NM_000444.6(PHEX):c.349+2dup
|
rs1927584800
|
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NM_000444.6(PHEX):c.352C>T (p.Leu118Phe)
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|
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NM_000444.6(PHEX):c.403G>A (p.Ala135Thr)
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|
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NM_000444.6(PHEX):c.404C>A (p.Ala135Asp)
|
rs1929155246
|
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NM_000444.6(PHEX):c.419C>T (p.Ser140Leu)
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|
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NM_000444.6(PHEX):c.425G>C (p.Cys142Ser)
|
rs1064797048
|
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NM_000444.6(PHEX):c.436+4A>G
|
rs1057520344
|
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NM_000444.6(PHEX):c.436+5G>A
|
rs1602273945
|
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NM_000444.6(PHEX):c.437-3C>G
|
rs1602274684
|
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NM_000444.6(PHEX):c.440C>G (p.Ala147Gly)
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|
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NM_000444.6(PHEX):c.496C>T (p.Arg166Cys)
|
rs751230094
|
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NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)
|
rs1064796435
|
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NM_000444.6(PHEX):c.505G>C (p.Val169Leu)
|
rs187824835
|
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NM_000444.6(PHEX):c.532G>T (p.Gly178Trp)
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|
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NM_000444.6(PHEX):c.569C>G (p.Thr190Arg)
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NM_000444.6(PHEX):c.593A>T (p.Tyr198Phe)
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NM_000444.6(PHEX):c.614G>A (p.Arg205His)
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NM_000444.6(PHEX):c.620A>G (p.Tyr207Cys)
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NM_000444.6(PHEX):c.64_65delinsTT (p.Ala22Phe)
|
rs2146974307
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NM_000444.6(PHEX):c.663+6A>G
|
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NM_000444.6(PHEX):c.701A>G (p.Asp234Gly)
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NM_000444.6(PHEX):c.732+3A>T
|
rs2147035595
|
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NM_000444.6(PHEX):c.732+4_732+5insCA
|
rs1929833587
|
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NM_000444.6(PHEX):c.732+5G>A
|
rs1556023528
|
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NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)
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|
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NM_000444.6(PHEX):c.764A>T (p.Asp255Val)
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NM_000444.6(PHEX):c.766A>C (p.Thr256Pro)
|
rs1930020278
|
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NM_000444.6(PHEX):c.832G>A (p.Glu278Lys)
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|
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NM_000444.6(PHEX):c.849+1268G>T
|
rs919011936
|
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NM_000444.6(PHEX):c.850-2A>G
|
rs1064793226
|
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NM_000444.6(PHEX):c.850-3C>T
|
|
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NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)
|
rs1064796929
|
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NM_000444.6(PHEX):c.933+5G>C
|
|
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NM_000444.6(PHEX):c.934-16_934-12delinsCTACCTAACTGAGAT
|
rs1930289987
|
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NM_000444.6(PHEX):c.947G>T (p.Gly316Val)
|
|
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NM_000444.6(PHEX):c.956A>C (p.Lys319Thr)
|
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NM_000444.6(PHEX):c.961G>T (p.Val321Phe)
|
rs1556025976
|
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NM_000444.6(PHEX):c.974G>C (p.Arg325Thr)
|
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NM_000444.6(PHEX):c.980A>G (p.Tyr327Cys)
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