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.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.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.574C>T (p.Gln192Ter)
|
rs386833953
|
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.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)
|
rs386833889
|
0.00001
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
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.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
NM_004646.4(NPHS1):c.534del (p.Thr179fs)
|
rs386833952
|
0.00001
|
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)
|
rs386833958
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)
|
rs753476209
|
0.00001
|
NC_000019.10:g.(?_35835695)_(35835771_?)del
|
|
|
NC_000019.10:g.35848389_35848398del
|
|
|
NC_000019.9:g.(?_36317274)_(36326673_?)del
|
|
|
NC_000019.9:g.(?_36330129)_(36335371_?)del
|
|
|
NC_000019.9:g.(?_36338828)_(36339610_?)del
|
|
|
NM_004646.3(NPHS1):c.1172del
|
rs1973176439
|
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
NM_004646.4(NPHS1):c.1018_1019del (p.Pro339_Pro340insTer)
|
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)
|
rs753535989
|
|
NM_004646.4(NPHS1):c.1121G>A (p.Trp374Ter)
|
rs2146827068
|
|
NM_004646.4(NPHS1):c.1124G>A (p.Trp375Ter)
|
|
|
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp)
|
rs386833871
|
|
NM_004646.4(NPHS1):c.1156G>T (p.Glu386Ter)
|
rs1973180778
|
|
NM_004646.4(NPHS1):c.1159_1160insTT (p.Thr387fs)
|
|
|
NM_004646.4(NPHS1):c.1235del (p.Gly412fs)
|
rs1161720919
|
|
NM_004646.4(NPHS1):c.1279G>T (p.Glu427Ter)
|
rs2146826513
|
|
NM_004646.4(NPHS1):c.1292dup (p.Ser432fs)
|
rs386833877
|
|
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.1422del (p.Ser475fs)
|
|
|
NM_004646.4(NPHS1):c.1437C>G (p.Tyr479Ter)
|
|
|
NM_004646.4(NPHS1):c.1440+1G>A
|
|
|
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
|
|
|
NM_004646.4(NPHS1):c.1531dup (p.Arg511fs)
|
|
|
NM_004646.4(NPHS1):c.1559C>A (p.Ser520Ter)
|
|
|
NM_004646.4(NPHS1):c.1567C>T (p.Gln523Ter)
|
rs1447842872
|
|
NM_004646.4(NPHS1):c.1661dup (p.Ser555fs)
|
|
|
NM_004646.4(NPHS1):c.1745del (p.Lys582fs)
|
rs1057517021
|
|
NM_004646.4(NPHS1):c.1753del (p.Glu585fs)
|
rs2146823645
|
|
NM_004646.4(NPHS1):c.1768_1772del (p.Val590fs)
|
rs2146823441
|
|
NM_004646.4(NPHS1):c.1815del (p.Arg606fs)
|
rs1973124127
|
|
NM_004646.4(NPHS1):c.1825del (p.Leu609fs)
|
rs1973123878
|
|
NM_004646.4(NPHS1):c.1831C>T (p.Gln611Ter)
|
|
|
NM_004646.4(NPHS1):c.1859_1878del (p.Arg620fs)
|
|
|
NM_004646.4(NPHS1):c.1908_1909insGAGAGGAGGTCGCGGCGCCGGAGGCCCCAGAAGGGTCGACGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACCGTGAGCTCC (p.Phe637delinsGluArgArgSerArgArgArgArgProGlnLysGlyArgArgArgArgGlyLeuGlySerValAlaTer)
|
rs2146823207
|
|
NM_004646.4(NPHS1):c.1914T>A (p.Tyr638Ter)
|
|
|
NM_004646.4(NPHS1):c.1971del (p.Ala658fs)
|
rs1057517022
|
|
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs)
|
rs755763002
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
|
NM_004646.4(NPHS1):c.2090_2094del (p.Arg697fs)
|
rs2146822012
|
|
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)
|
rs751809997
|
|
NM_004646.4(NPHS1):c.2135_2136del (p.Ala712fs)
|
|
|
NM_004646.4(NPHS1):c.2137del (p.Asp713fs)
|
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)
|
rs386833906
|
|
NM_004646.4(NPHS1):c.2199dup (p.Leu734fs)
|
|
|
NM_004646.4(NPHS1):c.2289del (p.Asp764fs)
|
rs2146821009
|
|
NM_004646.4(NPHS1):c.2324G>A (p.Trp775Ter)
|
rs1973089176
|
|
NM_004646.4(NPHS1):c.2326del (p.Glu776fs)
|
|
|
NM_004646.4(NPHS1):c.2335-2A>G
|
rs2146819931
|
|
NM_004646.4(NPHS1):c.2353C>T (p.Gln785Ter)
|
|
|
NM_004646.4(NPHS1):c.2367dup (p.Met790fs)
|
|
|
NM_004646.4(NPHS1):c.2386G>T (p.Gly796Ter)
|
|
|
NM_004646.4(NPHS1):c.2387del (p.Gly796fs)
|
rs1568453378
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
|
|
|
NM_004646.4(NPHS1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2530del (p.Thr844fs)
|
|
|
NM_004646.4(NPHS1):c.2536del (p.Pro845_Leu846insTer)
|
|
|
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs)
|
rs1244884053
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
NM_004646.4(NPHS1):c.2618del (p.Phe873fs)
|
|
|
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.2667C>A (p.Tyr889Ter)
|
|
|
NM_004646.4(NPHS1):c.2686C>T (p.Gln896Ter)
|
rs771594710
|
|
NM_004646.4(NPHS1):c.2686del (p.Gln896fs)
|
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.2805del (p.Val936fs)
|
|
|
NM_004646.4(NPHS1):c.2824del (p.Asp942fs)
|
|
|
NM_004646.4(NPHS1):c.2840del (p.Gly946_Leu947insTer)
|
|
|
NM_004646.4(NPHS1):c.2847_2853del (p.Val949_Val950insTer)
|
rs886042517
|
|
NM_004646.4(NPHS1):c.2905del (p.Leu969fs)
|
rs369410355
|
|
NM_004646.4(NPHS1):c.2944dup (p.Thr982fs)
|
rs386833931
|
|
NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter)
|
|
|
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs)
|
rs2146816256
|
|
NM_004646.4(NPHS1):c.298del (p.Ala100fs)
|
rs2146832020
|
|
NM_004646.4(NPHS1):c.2991del (p.Phe998fs)
|
|
|
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)
|
rs762184939
|
|
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)
|
rs34124941
|
|
NM_004646.4(NPHS1):c.3128_3132del (p.Gly1043fs)
|
rs2146812210
|
|
NM_004646.4(NPHS1):c.3135_3136del (p.Glu1046fs)
|
|
|
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs)
|
rs1420623853
|
|
NM_004646.4(NPHS1):c.322G>T (p.Glu108Ter)
|
rs2146831931
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3258del (p.Trp1086fs)
|
rs2146807976
|
|
NM_004646.4(NPHS1):c.3259C>T (p.Gln1087Ter)
|
|
|
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs)
|
rs1972879328
|
|
NM_004646.4(NPHS1):c.3343G>T (p.Glu1115Ter)
|
rs1972879158
|
|
NM_004646.4(NPHS1):c.3364G>T (p.Glu1122Ter)
|
|
|
NM_004646.4(NPHS1):c.3481+2T>C
|
|
|
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs)
|
rs1420307327
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004646.4(NPHS1):c.450G>A (p.Trp150Ter)
|
rs2146831207
|
|
NM_004646.4(NPHS1):c.459del (p.Gln154fs)
|
rs2146831183
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.479G>A (p.Cys160Tyr)
|
rs386833944
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.516del (p.Ile173fs)
|
rs386833948
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.593_594del (p.Val198fs)
|
|
|
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.616_621del (p.Pro206_Arg207del)
|
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004646.4(NPHS1):c.649del (p.Cys217fs)
|
rs2146828473
|
|
NM_004646.4(NPHS1):c.671dup (p.Glu225fs)
|
rs753394912
|
|
NM_004646.4(NPHS1):c.699del (p.Thr233_Val234insTer)
|
|
|
NM_004646.4(NPHS1):c.713-1G>A
|
|
|
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)
|
rs386833959
|
|
NM_004646.4(NPHS1):c.740G>A (p.Trp247Ter)
|
rs1599845689
|
|
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter)
|
rs1568456335
|
|
NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter)
|
rs779099247
|
|
NM_004646.4(NPHS1):c.803del (p.Arg268fs)
|
|
|
NM_004646.4(NPHS1):c.816del (p.Pro272_Leu273insTer)
|
rs1973192389
|
|
NM_004646.4(NPHS1):c.827_833dup (p.Trp278fs)
|
|
|
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)
|
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
NM_004646.4(NPHS1):c.877dup (p.His293fs)
|
|
|
NM_004646.4(NPHS1):c.951C>A (p.Cys317Ter)
|
|
|