NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
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rs386833909
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0.00006
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NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)
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rs756436580
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0.00004
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NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
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rs386833874
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0.00002
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NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
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rs753656470
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0.00002
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NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)
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rs1450477596
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0.00001
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NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)
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rs386833867
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0.00001
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NM_004646.4(NPHS1):c.1170+7C>T
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rs906888001
|
0.00001
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NM_004646.4(NPHS1):c.2663+2T>G
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rs762392183
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0.00001
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NM_004646.4(NPHS1):c.2815+3A>G
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rs1223946044
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0.00001
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NM_004646.4(NPHS1):c.3287-2A>C
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rs758432802
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0.00001
|
NM_004646.4(NPHS1):c.58+1G>A
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rs386833954
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0.00001
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NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
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rs1599845714
|
0.00001
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NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
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rs386833961
|
0.00001
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NM_004646.4(NPHS1):c.1012+2T>A
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NM_004646.4(NPHS1):c.1013-1G>T
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NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)
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rs386833862
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NM_004646.4(NPHS1):c.109dup (p.Leu37fs)
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NM_004646.4(NPHS1):c.1228del (p.Asp410fs)
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NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)
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rs1057516776
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NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)
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rs386833879
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NM_004646.4(NPHS1):c.133dup (p.Glu45fs)
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NM_004646.4(NPHS1):c.1378del (p.Arg460fs)
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NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
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NM_004646.4(NPHS1):c.173del (p.Pro58fs)
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NM_004646.4(NPHS1):c.1749del (p.Glu585fs)
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NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)
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NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs)
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NM_004646.4(NPHS1):c.1930+1G>A
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NM_004646.4(NPHS1):c.1930+5G>A
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NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)
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NM_004646.4(NPHS1):c.2072-6C>G
|
rs200253809
|
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NM_004646.4(NPHS1):c.2083del (p.Arg695fs)
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NM_004646.4(NPHS1):c.2083dup (p.Arg695fs)
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NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
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NM_004646.4(NPHS1):c.2179_2212+6del
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NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)
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NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
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|
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NM_004646.4(NPHS1):c.2506+1G>A
|
rs1973073001
|
|
NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)
|
|
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NM_004646.4(NPHS1):c.2663+2T>A
|
rs762392183
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2751_2754del (p.Phe918fs)
|
|
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NM_004646.4(NPHS1):c.2816-3T>G
|
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NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)
|
|
|
NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)
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NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)
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|
NM_004646.4(NPHS1):c.2905del (p.Leu969fs)
|
rs369410355
|
|
NM_004646.4(NPHS1):c.2928-3del
|
|
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NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)
|
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NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)
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NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)
|
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NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)
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NM_004646.4(NPHS1):c.3286+1G>A
|
rs1599835856
|
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NM_004646.4(NPHS1):c.3286+5G>A
|
rs1555759089
|
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NM_004646.4(NPHS1):c.3311+1_3311+11del
|
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NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC
|
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NM_004646.4(NPHS1):c.3335del (p.Asn1112fs)
|
rs1972879328
|
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NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)
|
|
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NM_004646.4(NPHS1):c.3482-2A>C
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NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
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NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)
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NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs)
|
rs750714387
|
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NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)
|
rs767832658
|
|
NM_004646.4(NPHS1):c.3594+1G>A
|
rs1555758856
|
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NM_004646.4(NPHS1):c.3600_3607del
|
|
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NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
|
rs1186290245
|
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NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)
|
|
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NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
|
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NM_004646.4(NPHS1):c.397+1G>C
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NM_004646.4(NPHS1):c.398-1G>C
|
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NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs)
|
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NM_004646.4(NPHS1):c.490del (p.Asp164fs)
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NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer)
|
|
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NM_004646.4(NPHS1):c.526+1G>C
|
rs371515262
|
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NM_004646.4(NPHS1):c.59-1G>T
|
|
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NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)
|
|
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NM_004646.4(NPHS1):c.671dup (p.Glu225fs)
|
rs753394912
|
|
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)
|
rs373835033
|
|
NM_004646.4(NPHS1):c.712delT (p.Phe238fs)
|
|
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NM_004646.4(NPHS1):c.713-2A>T
|
rs2146828046
|
|
NM_004646.4(NPHS1):c.739del (p.Trp247fs)
|
|
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NM_004646.4(NPHS1):c.841-2A>C
|
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NM_004646.4(NPHS1):c.902_909del (p.Val301fs)
|
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