NM_004646.4(NPHS1):c.*529C>T
|
rs148755697
|
0.02405
|
NM_004646.4(NPHS1):c.1930+10C>T
|
rs76131336
|
0.01025
|
NM_004646.4(NPHS1):c.1758-11C>G
|
rs145554982
|
0.00802
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)
|
rs34761059
|
0.00420
|
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)
|
rs35240811
|
0.00405
|
NM_004646.4(NPHS1):c.1170+8G>A
|
rs140808195
|
0.00400
|
NM_004646.4(NPHS1):c.1926A>G (p.Val642=)
|
rs114728208
|
0.00397
|
NM_004646.4(NPHS1):c.1110T>C (p.Val370=)
|
rs116459838
|
0.00394
|
NM_004646.4(NPHS1):c.1758-8T>G
|
rs187501631
|
0.00387
|
NM_004646.4(NPHS1):c.*287C>T
|
rs151204365
|
0.00305
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
NM_004646.4(NPHS1):c.2072-6C>T
|
rs200253809
|
0.00191
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)
|
rs115489112
|
0.00161
|
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)
|
rs114896482
|
0.00151
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00138
|
NM_004646.4(NPHS1):c.*1020C>T
|
rs564256430
|
0.00133
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_004646.4(NPHS1):c.3109+3G>T
|
rs199888357
|
0.00101
|
NM_004646.4(NPHS1):c.597G>A (p.Glu199=)
|
rs61731102
|
0.00101
|
NM_004646.4(NPHS1):c.*751C>T
|
rs549430502
|
0.00099
|
NM_004646.4(NPHS1):c.1012+30C>T
|
rs199659985
|
0.00092
|
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)
|
rs114112112
|
0.00091
|
NM_004646.4(NPHS1):c.*1111G>T
|
rs777800161
|
0.00086
|
NM_004646.4(NPHS1):c.*609G>A
|
rs144206206
|
0.00074
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)
|
rs147641617
|
0.00059
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
NM_004646.4(NPHS1):c.646G>C (p.Val216Leu)
|
rs34673364
|
0.00050
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)
|
rs375861433
|
0.00042
|
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
|
rs114615449
|
0.00041
|
NM_004646.4(NPHS1):c.3110-5C>T
|
rs190769116
|
0.00041
|
NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu)
|
rs201503587
|
0.00031
|
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)
|
rs114203578
|
0.00028
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
NM_004646.4(NPHS1):c.528T>C (p.Ser176=)
|
rs539716201
|
0.00026
|
NM_004646.4(NPHS1):c.*888A>G
|
rs745654494
|
0.00021
|
NM_004646.4(NPHS1):c.1790C>A (p.Ala597Asp)
|
rs548304892
|
0.00019
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln)
|
rs540253444
|
0.00016
|
NM_004646.4(NPHS1):c.*757T>C
|
rs552731597
|
0.00015
|
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)
|
rs143178785
|
0.00015
|
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)
|
rs372069596
|
0.00015
|
NM_004646.4(NPHS1):c.3419G>A (p.Arg1140His)
|
rs369787477
|
0.00015
|
NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg)
|
rs368523939
|
0.00014
|
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)
|
rs140673499
|
0.00014
|
NM_004646.4(NPHS1):c.733A>C (p.Ile245Leu)
|
rs370046047
|
0.00014
|
NM_004646.4(NPHS1):c.*760T>C
|
rs531569980
|
0.00013
|
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His)
|
rs143986233
|
0.00013
|
NM_004646.4(NPHS1):c.3702C>T (p.Phe1234=)
|
rs141375888
|
0.00013
|
NM_004646.4(NPHS1):c.*865T>C
|
rs904828636
|
0.00012
|
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)
|
rs373264146
|
0.00011
|
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His)
|
rs144203682
|
0.00011
|
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln)
|
rs373835033
|
0.00011
|
NM_004646.4(NPHS1):c.*250G>A
|
rs117894015
|
0.00010
|
NM_004646.4(NPHS1):c.492C>T (p.Asp164=)
|
rs147569168
|
0.00010
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)
|
rs143145248
|
0.00009
|
NM_004646.4(NPHS1):c.888G>A (p.Ala296=)
|
rs531224038
|
0.00009
|
NM_004646.4(NPHS1):c.1315+7C>T
|
rs370645778
|
0.00008
|
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)
|
rs370387270
|
0.00008
|
NM_004646.4(NPHS1):c.3545C>T (p.Thr1182Met)
|
rs143003940
|
0.00008
|
NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg)
|
rs1333165836
|
0.00008
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_004646.4(NPHS1):c.1170+9G>A
|
rs531263446
|
0.00006
|
NM_004646.4(NPHS1):c.1725G>T (p.Pro575=)
|
rs140859903
|
0.00006
|
NM_004646.4(NPHS1):c.2469G>A (p.Ala823=)
|
rs371646734
|
0.00006
|
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser)
|
rs374762054
|
0.00006
|
NM_004646.4(NPHS1):c.3311+14T>C
|
rs375587420
|
0.00006
|
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=)
|
rs762184939
|
0.00005
|
NM_004646.4(NPHS1):c.3100A>G (p.Thr1034Ala)
|
rs762614253
|
0.00005
|
NM_004646.4(NPHS1):c.973G>T (p.Ala325Ser)
|
rs376401690
|
0.00005
|
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile)
|
rs751182197
|
0.00004
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00004
|
NM_004646.4(NPHS1):c.2334+9C>T
|
rs756158801
|
0.00004
|
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr)
|
rs375108899
|
0.00004
|
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)
|
rs752712664
|
0.00004
|
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)
|
rs730880175
|
0.00004
|
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=)
|
rs201263480
|
0.00004
|
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met)
|
rs767424724
|
0.00004
|
NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=)
|
rs201738778
|
0.00004
|
NM_004646.4(NPHS1):c.3388-14C>T
|
rs371907999
|
0.00004
|
NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=)
|
rs116744687
|
0.00004
|
NM_004646.4(NPHS1):c.609-10C>T
|
rs763508503
|
0.00004
|
NM_004646.4(NPHS1):c.887C>T (p.Ala296Val)
|
rs200621047
|
0.00004
|
NM_004646.4(NPHS1):c.*483G>A
|
rs199649890
|
0.00003
|
NM_004646.4(NPHS1):c.1378C>T (p.Arg460Trp)
|
rs749319334
|
0.00003
|
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)
|
rs371484897
|
0.00003
|
NM_004646.4(NPHS1):c.2705G>A (p.Ser902Asn)
|
rs749246924
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_004646.4(NPHS1):c.2970C>T (p.Val990=)
|
rs778497725
|
0.00003
|
NM_004646.4(NPHS1):c.3206T>C (p.Leu1069Pro)
|
rs756273676
|
0.00003
|
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val)
|
rs781117481
|
0.00003
|
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser)
|
rs748287435
|
0.00003
|
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys)
|
rs950655735
|
0.00003
|
NM_004646.4(NPHS1):c.*958G>T
|
rs886054344
|
0.00002
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.1931-34A>G
|
rs1040003208
|
0.00002
|
NM_004646.4(NPHS1):c.2305C>T (p.Leu769Phe)
|
rs747892169
|
0.00002
|
NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys)
|
rs549487912
|
0.00002
|
NM_004646.4(NPHS1):c.2438C>T (p.Ala813Val)
|
rs541575466
|
0.00002
|
NM_004646.4(NPHS1):c.2516A>T (p.Gln839Leu)
|
rs1442536181
|
0.00002
|
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)
|
rs1215088730
|
0.00002
|
NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala)
|
rs370844834
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys)
|
rs376172729
|
0.00002
|
NM_004646.4(NPHS1):c.822_840+6dup
|
rs779725493
|
0.00002
|
NM_004646.4(NPHS1):c.*1021G>A
|
rs536792618
|
0.00001
|
NM_004646.4(NPHS1):c.*419C>T
|
rs1028142337
|
0.00001
|
NM_004646.4(NPHS1):c.*765C>T
|
rs1342655151
|
0.00001
|
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
NM_004646.4(NPHS1):c.1170+7C>T
|
rs906888001
|
0.00001
|
NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr)
|
rs781420585
|
0.00001
|
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser)
|
rs142008044
|
0.00001
|
NM_004646.4(NPHS1):c.1297C>T (p.Leu433Phe)
|
rs730880173
|
0.00001
|
NM_004646.4(NPHS1):c.1342G>C (p.Gly448Arg)
|
rs1402815412
|
0.00001
|
NM_004646.4(NPHS1):c.1440+11C>T
|
rs750251097
|
0.00001
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
NM_004646.4(NPHS1):c.1598T>C (p.Leu533Pro)
|
rs886054351
|
0.00001
|
NM_004646.4(NPHS1):c.1727T>C (p.Val576Ala)
|
rs757670920
|
0.00001
|
NM_004646.4(NPHS1):c.1850A>G (p.His617Arg)
|
rs764058957
|
0.00001
|
NM_004646.4(NPHS1):c.1871G>T (p.Arg624Leu)
|
rs1261220304
|
0.00001
|
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=)
|
rs748680209
|
0.00001
|
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser)
|
rs746189747
|
0.00001
|
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp)
|
rs1161340572
|
0.00001
|
NM_004646.4(NPHS1):c.2285C>T (p.Thr762Ile)
|
rs944539025
|
0.00001
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
NM_004646.4(NPHS1):c.2507-14C>T
|
rs777015846
|
0.00001
|
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met)
|
rs773622352
|
0.00001
|
NM_004646.4(NPHS1):c.2686C>G (p.Gln896Glu)
|
rs771594710
|
0.00001
|
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile)
|
rs1174084046
|
0.00001
|
NM_004646.4(NPHS1):c.2815+3A>G
|
rs1223946044
|
0.00001
|
NM_004646.4(NPHS1):c.2905C>T (p.Leu969=)
|
rs368639377
|
0.00001
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.3160C>T (p.Pro1054Ser)
|
rs772424085
|
0.00001
|
NM_004646.4(NPHS1):c.3186G>C (p.Leu1062=)
|
rs1972888608
|
0.00001
|
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)
|
rs386833934
|
0.00001
|
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg)
|
rs768707154
|
0.00001
|
NM_004646.4(NPHS1):c.3312-23C>T
|
rs755493354
|
0.00001
|
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys)
|
rs760440966
|
0.00001
|
NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn)
|
rs1350146301
|
0.00001
|
NM_004646.4(NPHS1):c.610G>A (p.Val204Met)
|
rs773027675
|
0.00001
|
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr)
|
rs749219077
|
0.00001
|
NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg)
|
rs755962215
|
0.00001
|
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)
|
rs753476209
|
0.00001
|
NM_004646.4(NPHS1):c.916G>A (p.Val306Met)
|
rs769719915
|
0.00001
|
NM_004646.4(NPHS1):c.938C>T (p.Ala313Val)
|
rs755752316
|
0.00001
|
NC_000019.9:g.(?_36317416)_(36317567_?)dup
|
|
|
NM_004646.4(NPHS1):c.*1040C>T
|
rs181405524
|
|
NM_004646.4(NPHS1):c.*272G>A
|
rs550845716
|
|
NM_004646.4(NPHS1):c.*272G>T
|
rs550845716
|
|
NM_004646.4(NPHS1):c.*488T>C
|
rs886054346
|
|
NM_004646.4(NPHS1):c.*759A>T
|
rs886054345
|
|
NM_004646.4(NPHS1):c.*82G>T
|
rs569295487
|
|
NM_004646.4(NPHS1):c.*962G>A
|
rs1972790629
|
|
NM_004646.4(NPHS1):c.1009A>G (p.Thr337Ala)
|
|
|
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del)
|
rs1555763370
|
|
NM_004646.4(NPHS1):c.1022G>C (p.Ser341Thr)
|
rs976105039
|
|
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg)
|
rs1555763367
|
|
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)
|
rs386833862
|
|
NM_004646.4(NPHS1):c.1043C>T (p.Ser348Phe)
|
|
|
NM_004646.4(NPHS1):c.1108G>A (p.Val370Ile)
|
|
|
NM_004646.4(NPHS1):c.1108G>T (p.Val370Phe)
|
|
|
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del)
|
rs1555763317
|
|
NM_004646.4(NPHS1):c.1154A>G (p.Glu385Gly)
|
|
|
NM_004646.4(NPHS1):c.1168G>T (p.Asp390Tyr)
|
rs1336745494
|
|
NM_004646.4(NPHS1):c.1189A>C (p.Ile397Leu)
|
rs1973175925
|
|
NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala)
|
rs1973174583
|
|
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)
|
rs386833879
|
|
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)
|
|
|
NM_004646.4(NPHS1):c.1370C>T (p.Ala457Val)
|
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NM_004646.4(NPHS1):c.1440+2T>C
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rs1568455470
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NM_004646.4(NPHS1):c.1441G>T (p.Asp481Tyr)
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NM_004646.4(NPHS1):c.1469_1486dup (p.Leu490_Arg495dup)
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rs1973137901
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NM_004646.4(NPHS1):c.1504G>A (p.Val502Met)
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NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1])
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rs1555762721
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NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
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NM_004646.4(NPHS1):c.1576T>C (p.Phe526Leu)
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NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro)
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rs1555762694
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NM_004646.4(NPHS1):c.1726G>T (p.Val576Phe)
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rs1973129887
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NM_004646.4(NPHS1):c.1734G>A (p.Leu578=)
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rs1973129633
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NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu)
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NM_004646.4(NPHS1):c.1758-10G>A
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rs2146823474
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NM_004646.4(NPHS1):c.1790C>T (p.Ala597Val)
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rs548304892
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NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg)
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rs566516658
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NM_004646.4(NPHS1):c.1861G>A (p.Val621Met)
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rs886054350
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NM_004646.4(NPHS1):c.1861G>T (p.Val621Leu)
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NM_004646.4(NPHS1):c.1873G>T (p.Ala625Ser)
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rs1973122430
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NM_004646.4(NPHS1):c.1893C>T (p.Arg631=)
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rs1973121750
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NM_004646.4(NPHS1):c.1897A>G (p.Thr633Ala)
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NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
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NM_004646.4(NPHS1):c.1931-16G>A
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rs1392236567
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NM_004646.4(NPHS1):c.1989G>A (p.Glu663=)
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rs909573287
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NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr)
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rs2146822238
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NM_004646.4(NPHS1):c.2024C>T (p.Ala675Val)
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NM_004646.4(NPHS1):c.2029G>A (p.Glu677Lys)
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NM_004646.4(NPHS1):c.2053G>T (p.Gly685Cys)
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NM_004646.4(NPHS1):c.2072-5C>T
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rs1973103431
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NM_004646.4(NPHS1):c.2072-6C>G
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rs200253809
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NM_004646.4(NPHS1):c.2072C>A (p.Ala691Glu)
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rs886054349
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NM_004646.4(NPHS1):c.2150A>G (p.Tyr717Cys)
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NM_004646.4(NPHS1):c.2159A>C (p.His720Pro)
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rs760911714
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NM_004646.4(NPHS1):c.2201T>G (p.Leu734Arg)
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rs781209508
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NM_004646.4(NPHS1):c.2210A>C (p.His737Pro)
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NM_004646.4(NPHS1):c.2257G>A (p.Val753Ile)
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rs753894951
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NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr)
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rs775313529
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NM_004646.4(NPHS1):c.2315T>C (p.Met772Thr)
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rs1973089245
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NM_004646.4(NPHS1):c.2334+9C>A
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rs756158801
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NM_004646.4(NPHS1):c.2335-11T>A
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rs142316130
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NM_004646.4(NPHS1):c.2336G>T (p.Gly779Val)
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rs2146819926
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NM_004646.4(NPHS1):c.2346GGA[1] (p.Glu783del)
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rs1568453391
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NM_004646.4(NPHS1):c.2402T>A (p.Leu801Gln)
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rs2146819820
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NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
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rs386833911
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NM_004646.4(NPHS1):c.2436C>G (p.Gly812=)
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rs768441489
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NM_004646.4(NPHS1):c.2437G>A (p.Ala813Thr)
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NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg)
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rs1568453333
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NM_004646.4(NPHS1):c.2452G>A (p.Val818Met)
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NM_004646.4(NPHS1):c.2459A>G (p.Asn820Ser)
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rs2146819740
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NM_004646.4(NPHS1):c.2497G>T (p.Val833Phe)
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NM_004646.4(NPHS1):c.2504G>C (p.Arg835Thr)
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rs1973073113
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NM_004646.4(NPHS1):c.2506+5G>T
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rs762704370
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NM_004646.4(NPHS1):c.2507-13C>T
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rs536518140
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NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)
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NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)
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NM_004646.4(NPHS1):c.2525A>C (p.His842Pro)
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rs1599841693
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NM_004646.4(NPHS1):c.2542A>G (p.Lys848Glu)
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NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
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NM_004646.4(NPHS1):c.2588G>T (p.Cys863Phe)
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rs1568453194
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NM_004646.4(NPHS1):c.2611A>G (p.Ile871Val)
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NM_004646.4(NPHS1):c.2635G>A (p.Gly879Arg)
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NM_004646.4(NPHS1):c.2636G>A (p.Gly879Glu)
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NM_004646.4(NPHS1):c.2637G>T (p.Gly879=)
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rs1431580668
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NM_004646.4(NPHS1):c.2651T>C (p.Leu884Pro)
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NM_004646.4(NPHS1):c.2654A>T (p.Gln885Leu)
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rs886054348
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NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
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rs778951863
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NM_004646.4(NPHS1):c.2679A>G (p.Thr893=)
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rs1568453068
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NM_004646.4(NPHS1):c.2708T>C (p.Leu903Pro)
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rs755991857
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NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr)
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rs1555761935
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NM_004646.4(NPHS1):c.2725G>A (p.Val909Met)
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NM_004646.4(NPHS1):c.2746G>A (p.Ala916Thr)
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NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
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rs138173172
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NM_004646.4(NPHS1):c.2758T>A (p.Cys920Ser)
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rs1568453007
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NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)
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NM_004646.4(NPHS1):c.2765C>A (p.Ala922Asp)
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rs2146818958
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NM_004646.4(NPHS1):c.2773G>T (p.Ala925Ser)
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NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)
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NM_004646.4(NPHS1):c.2816G>A (p.Ser939Asn)
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NM_004646.4(NPHS1):c.2819G>A (p.Arg940His)
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NM_004646.4(NPHS1):c.2826C>A (p.Asp942Glu)
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NM_004646.4(NPHS1):c.2899G>T (p.Gly967Trp)
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rs1973023933
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NM_004646.4(NPHS1):c.2916G>A (p.Arg972=)
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rs374762054
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NM_004646.4(NPHS1):c.2928-3del
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NM_004646.4(NPHS1):c.295G>A (p.Glu99Lys)
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NM_004646.4(NPHS1):c.2971G>A (p.Val991Ile)
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NM_004646.4(NPHS1):c.298G>T (p.Ala100Ser)
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rs1379397351
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NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=)
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rs1131691606
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NM_004646.4(NPHS1):c.3025T>C (p.Tyr1009His)
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NM_004646.4(NPHS1):c.3058G>A (p.Gly1020Arg)
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NM_004646.4(NPHS1):c.3108A>C (p.Pro1036=)
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NM_004646.4(NPHS1):c.3111T>G (p.Gly1037=)
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rs765621356
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NM_004646.4(NPHS1):c.3166+14C>A
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rs886054347
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NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)
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NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu)
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rs386833934
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NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile)
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rs1972887955
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NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)
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NM_004646.4(NPHS1):c.3238T>G (p.Cys1080Gly)
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NM_004646.4(NPHS1):c.3244G>A (p.Gly1082Arg)
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NM_004646.4(NPHS1):c.3245G>T (p.Gly1082Val)
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rs1440052631
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NM_004646.4(NPHS1):c.325T>C (p.Tyr109His)
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rs747849728
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NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)
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NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del)
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rs778137714
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NM_004646.4(NPHS1):c.3286+5G>A
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rs1555759089
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NM_004646.4(NPHS1):c.3286G>A (p.Gly1096Ser)
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rs2146807926
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NM_004646.4(NPHS1):c.3287-11G>A
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rs1175331248
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NM_004646.4(NPHS1):c.3302C>A (p.Thr1101Lys)
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NM_004646.4(NPHS1):c.3333G>A (p.Arg1111=)
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rs1972879372
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NM_004646.4(NPHS1):c.3364G>C (p.Glu1122Gln)
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rs548792892
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NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)
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rs786205518
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NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)
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rs143092783
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NM_004646.4(NPHS1):c.3439C>A (p.Pro1147Thr)
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NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)
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rs138092189
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NM_004646.4(NPHS1):c.3464A>G (p.Glu1155Gly)
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NM_004646.4(NPHS1):c.3481+1G>A
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NM_004646.4(NPHS1):c.3481G>A (p.Gly1161Ser)
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NM_004646.4(NPHS1):c.3482-3C>G
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NM_004646.4(NPHS1):c.3526T>G (p.Tyr1176Asp)
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NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del)
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rs887991752
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NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala)
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rs537783084
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NM_004646.4(NPHS1):c.3544_3545dup (p.Tyr1183fs)
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NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)
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rs767832658
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NM_004646.4(NPHS1):c.3569G>A (p.Gly1190Glu)
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NM_004646.4(NPHS1):c.3594+2T>C
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NM_004646.4(NPHS1):c.361G>A (p.Glu121Lys)
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rs1403580615
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NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
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rs1186290245
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NM_004646.4(NPHS1):c.3643G>A (p.Gly1215Arg)
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rs901965982
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NM_004646.4(NPHS1):c.3665G>A (p.Gly1222Glu)
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NM_004646.4(NPHS1):c.3679C>G (p.Leu1227Val)
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NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)
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NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter)
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rs1555758142
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NM_004646.4(NPHS1):c.3716A>T (p.His1239Leu)
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rs199961311
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NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
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NM_004646.4(NPHS1):c.396G>C (p.Leu132=)
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rs567149548
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NM_004646.4(NPHS1):c.404C>A (p.Pro135His)
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rs2146831313
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NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg)
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rs561948671
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NM_004646.4(NPHS1):c.422C>A (p.Thr141Asn)
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NM_004646.4(NPHS1):c.444_452del (p.Thr149_Val151del)
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rs1568457279
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NM_004646.4(NPHS1):c.451G>A (p.Val151Ile)
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NM_004646.4(NPHS1):c.460del (p.Gln154fs)
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rs1568457270
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NM_004646.4(NPHS1):c.475A>T (p.Asn159Tyr)
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rs1973238090
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NM_004646.4(NPHS1):c.505C>A (p.Pro169Thr)
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rs886054353
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NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
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rs386833947
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NM_004646.4(NPHS1):c.528T>G (p.Ser176Arg)
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NM_004646.4(NPHS1):c.545A>C (p.Asp182Ala)
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rs2146830080
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NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser)
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rs1338171450
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NM_004646.4(NPHS1):c.620G>A (p.Arg207Gln)
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NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln)
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rs755962215
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NM_004646.4(NPHS1):c.665C>T (p.Pro222Leu)
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NM_004646.4(NPHS1):c.673G>C (p.Glu225Gln)
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NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)
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rs373835033
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NM_004646.4(NPHS1):c.726C>T (p.Pro242=)
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rs886054352
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NM_004646.4(NPHS1):c.760C>T (p.His254Tyr)
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NM_004646.4(NPHS1):c.767G>A (p.Arg256Gln)
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NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter)
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rs1568456335
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NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)
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rs34982899
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NM_004646.4(NPHS1):c.791C>T (p.Pro264Leu)
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NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
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NM_004646.4(NPHS1):c.808G>C (p.Gly270Arg)
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NM_004646.4(NPHS1):c.888G>T (p.Ala296=)
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NM_004646.4(NPHS1):c.896G>A (p.Arg299His)
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rs755582721
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NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro)
|
rs755582721
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NM_004646.4(NPHS1):c.932A>G (p.His311Arg)
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NM_004646.4(NPHS1):c.960C>A (p.His320Gln)
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