NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)
|
rs114896482
|
0.00151
|
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.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)
|
rs140673499
|
0.00014
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
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.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00004
|
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.397+2T>C
|
rs1054950770
|
0.00003
|
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys)
|
rs950655735
|
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.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
NM_004646.4(NPHS1):c.822_840+6dup
|
rs779725493
|
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.1170+7C>T
|
rs906888001
|
0.00001
|
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)
|
rs386833889
|
0.00001
|
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser)
|
rs746189747
|
0.00001
|
NM_004646.4(NPHS1):c.2262G>A (p.Gly754=)
|
rs267605438
|
0.00001
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
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.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.3312-23C>T
|
rs755493354
|
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.644T>G (p.Leu215Arg)
|
rs755962215
|
0.00001
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
NM_004646.4(NPHS1):c.1013-1G>C
|
rs1057517413
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del)
|
rs1555763370
|
|
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg)
|
rs1555763367
|
|
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del)
|
rs1555763317
|
|
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)
|
rs142008044
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1316-2A>G
|
rs1555763090
|
|
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.1369del (p.Ala457fs)
|
rs1057516918
|
|
NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1])
|
rs1555762721
|
|
NM_004646.4(NPHS1):c.1745del (p.Lys582fs)
|
rs1057517021
|
|
NM_004646.4(NPHS1):c.1757+1G>A
|
rs1555762591
|
|
NM_004646.4(NPHS1):c.1931-1G>A
|
rs1555762381
|
|
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.2120G>A (p.Trp707Ter)
|
rs751809997
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs)
|
rs1244884053
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2663_2663+9del
|
rs771953692
|
|
NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr)
|
rs1555761935
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.2905del (p.Leu969fs)
|
rs369410355
|
|
NM_004646.4(NPHS1):c.3006_3012del (p.Gln1004fs)
|
rs748819031
|
|
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)
|
rs762184939
|
|
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)
|
rs34124941
|
|
NM_004646.4(NPHS1):c.3115dup (p.His1039fs)
|
rs1057516637
|
|
NM_004646.4(NPHS1):c.3167-1G>A
|
rs1009762900
|
|
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu)
|
rs386833934
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.325T>C (p.Tyr109His)
|
rs747849728
|
|
NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del)
|
rs778137714
|
|
NM_004646.4(NPHS1):c.3286+5G>A
|
rs1555759089
|
|
NM_004646.4(NPHS1):c.3287-11G>A
|
rs1175331248
|
|
NM_004646.4(NPHS1):c.3287-2A>G
|
rs758432802
|
|
NM_004646.4(NPHS1):c.3312-1G>A
|
rs786204729
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del)
|
rs887991752
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs)
|
rs750714387
|
|
NM_004646.4(NPHS1):c.3594+1G>A
|
rs1555758856
|
|
NM_004646.4(NPHS1):c.3613del (p.Trp1205fs)
|
rs1555758163
|
|
NM_004646.4(NPHS1):c.3619del (p.Glu1207fs)
|
rs1430464721
|
|
NM_004646.4(NPHS1):c.361G>A (p.Glu121Lys)
|
rs1403580615
|
|
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
|
rs1186290245
|
|
NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter)
|
rs1555758142
|
|
NM_004646.4(NPHS1):c.398-2A>G
|
rs1555763974
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.595del (p.Glu199fs)
|
rs1057517275
|
|
NM_004646.4(NPHS1):c.609-2A>C
|
rs386833955
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)
|
rs386833959
|
|
NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)
|
rs1555763503
|
|
NM_004646.4(NPHS1):c.851del (p.Pro284fs)
|
rs1555763460
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro)
|
rs755582721
|
|