NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)
|
rs114896482
|
0.00151
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)
|
rs749341977
|
0.00006
|
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)
|
rs756436580
|
0.00004
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_004646.4(NPHS1):c.3481+1G>T
|
rs142883811
|
0.00003
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_004646.4(NPHS1):c.1931-34A>G
|
rs1040003208
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
|
rs753656470
|
0.00002
|
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)
|
rs137853042
|
0.00002
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)
|
rs763972372
|
0.00002
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)
|
rs386833867
|
0.00001
|
NM_004646.4(NPHS1):c.1170+7C>T
|
rs906888001
|
0.00001
|
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)
|
rs764181464
|
0.00001
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter)
|
rs140018064
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_004646.4(NPHS1):c.2663+2T>G
|
rs762392183
|
0.00001
|
NM_004646.4(NPHS1):c.2815+3A>G
|
rs1223946044
|
0.00001
|
NM_004646.4(NPHS1):c.3287-2A>C
|
rs758432802
|
0.00001
|
NM_004646.4(NPHS1):c.534del (p.Thr179fs)
|
rs386833952
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
NM_004646.4(NPHS1):c.1012+2T>A
|
|
|
NM_004646.4(NPHS1):c.1013-1G>T
|
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)
|
rs386833862
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
NM_004646.4(NPHS1):c.1228del (p.Asp410fs)
|
|
|
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)
|
rs142008044
|
|
NM_004646.4(NPHS1):c.1235del (p.Gly412fs)
|
rs1161720919
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)
|
rs1057516776
|
|
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)
|
rs386833879
|
|
NM_004646.4(NPHS1):c.1378del (p.Arg460fs)
|
|
|
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)
|
rs386833881
|
|
NM_004646.4(NPHS1):c.1409del (p.Gly470fs)
|
|
|
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
|
|
|
NM_004646.4(NPHS1):c.1749del (p.Glu585fs)
|
|
|
NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)
|
|
|
NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs)
|
|
|
NM_004646.4(NPHS1):c.1930+1G>A
|
|
|
NM_004646.4(NPHS1):c.1930+5G>A
|
|
|
NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)
|
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
|
NM_004646.4(NPHS1):c.2072-6C>G
|
rs200253809
|
|
NM_004646.4(NPHS1):c.2083del (p.Arg695fs)
|
|
|
NM_004646.4(NPHS1):c.2083dup (p.Arg695fs)
|
|
|
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
|
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)
|
rs386833904
|
|
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)
|
rs386833906
|
|
NM_004646.4(NPHS1):c.2179_2212+6del
|
|
|
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)
|
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
|
|
|
NM_004646.4(NPHS1):c.2506+1G>A
|
rs1973073001
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)
|
rs386833919
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)
|
|
|
NM_004646.4(NPHS1):c.2633dup (p.Asn878fs)
|
rs1315968443
|
|
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)
|
|
|
NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)
|
|
|
NM_004646.4(NPHS1):c.2816-3T>G
|
|
|
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)
|
|
|
NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)
|
|
|
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)
|
|
|
NM_004646.4(NPHS1):c.2905del (p.Leu969fs)
|
rs369410355
|
|
NM_004646.4(NPHS1):c.2928-3del
|
|
|
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)
|
rs762184939
|
|
NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)
|
|
|
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)
|
rs34124941
|
|
NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)
|
|
|
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs)
|
rs1420623853
|
|
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)
|
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3286+1G>A
|
rs1599835856
|
|
NM_004646.4(NPHS1):c.3286+5G>A
|
rs1555759089
|
|
NM_004646.4(NPHS1):c.3311+1_3311+11del
|
|
|
NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC
|
|
|
NM_004646.4(NPHS1):c.3312-1G>C
|
|
|
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs)
|
rs1972879328
|
|
NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)
|
|
|
NM_004646.4(NPHS1):c.3482-2A>C
|
|
|
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs)
|
rs1420307327
|
|
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala)
|
rs537783084
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)
|
|
|
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs)
|
rs750714387
|
|
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)
|
rs767832658
|
|
NM_004646.4(NPHS1):c.3594+1G>A
|
rs1555758856
|
|
NM_004646.4(NPHS1):c.3595-2A>G
|
rs386833940
|
|
NM_004646.4(NPHS1):c.3600_3607del
|
|
|
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
|
rs1186290245
|
|
NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)
|
|
|
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
|
|
|
NM_004646.4(NPHS1):c.397+1G>C
|
|
|
NM_004646.4(NPHS1):c.398-1G>A
|
rs386833942
|
|
NM_004646.4(NPHS1):c.398-1G>C
|
|
|
NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs)
|
|
|
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)
|
rs386833944
|
|
NM_004646.4(NPHS1):c.490del (p.Asp164fs)
|
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.526+1G>C
|
rs371515262
|
|
NM_004646.4(NPHS1):c.527-2A>G
|
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)
|
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
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)
|
|
|
NM_004646.4(NPHS1):c.713-2A>T
|
rs2146828046
|
|
NM_004646.4(NPHS1):c.739del (p.Trp247fs)
|
|
|
NM_004646.4(NPHS1):c.740G>A (p.Trp247Ter)
|
rs1599845689
|
|
NM_004646.4(NPHS1):c.840+1G>T
|
|
|
NM_004646.4(NPHS1):c.841-2A>C
|
|
|
NM_004646.4(NPHS1):c.902_909del (p.Val301fs)
|
|
|