NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_004646.4(NPHS1):c.559G>A (p.Val187Met)
|
rs199646884
|
0.00016
|
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.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.397+2T>C
|
rs1054950770
|
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.319G>A (p.Ala107Thr)
|
rs386833933
|
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.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
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.1100G>A (p.Arg367His)
|
rs200905486
|
0.00001
|
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)
|
rs386833867
|
0.00001
|
NM_004646.4(NPHS1):c.1126C>G (p.Leu376Val)
|
rs386833868
|
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.1715G>A (p.Ser572Asn)
|
rs386833889
|
0.00001
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
0.00001
|
NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys)
|
rs386833900
|
0.00001
|
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)
|
rs764181464
|
0.00001
|
NM_004646.4(NPHS1):c.2500G>T (p.Val834Phe)
|
rs386833917
|
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.320C>T (p.Ala107Val)
|
rs386833934
|
0.00001
|
NM_004646.4(NPHS1):c.3287-2A>C
|
rs758432802
|
0.00001
|
NM_004646.4(NPHS1):c.527-1G>A
|
rs771143648
|
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.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del
|
|
|
NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del
|
|
|
NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del
|
|
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro)
|
|
|
NM_004646.4(NPHS1):c.1012+2T>A
|
|
|
NM_004646.4(NPHS1):c.1013-1G>C
|
rs1057517413
|
|
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.1102C>T (p.Pro368Ser)
|
rs386833866
|
|
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)
|
rs753535989
|
|
NM_004646.4(NPHS1):c.1134G>A (p.Trp378Ter)
|
rs386833869
|
|
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp)
|
rs386833871
|
|
NM_004646.4(NPHS1):c.1135_1136del (p.Arg379fs)
|
rs386833870
|
|
NM_004646.4(NPHS1):c.1138C>T (p.Gln380Ter)
|
rs386833872
|
|
NM_004646.4(NPHS1):c.1188_1189del (p.Ile397fs)
|
|
|
NM_004646.4(NPHS1):c.1228del (p.Asp410fs)
|
|
|
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)
|
rs142008044
|
|
NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe)
|
rs386833875
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
NM_004646.4(NPHS1):c.1292dup (p.Ser432fs)
|
rs386833877
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1315+1G>A
|
|
|
NM_004646.4(NPHS1):c.1316-1G>C
|
rs1973171785
|
|
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.1378del (p.Arg460fs)
|
|
|
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)
|
rs386833881
|
|
NM_004646.4(NPHS1):c.1414_1415delinsA (p.Pro472fs)
|
|
|
NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter)
|
rs1242448684
|
|
NM_004646.4(NPHS1):c.1454_1455del (p.Val485fs)
|
|
|
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
|
|
|
NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe)
|
rs386833885
|
|
NM_004646.4(NPHS1):c.1672C>T (p.Arg558Cys)
|
rs386833886
|
|
NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg)
|
rs386833888
|
|
NM_004646.4(NPHS1):c.1724C>A (p.Pro575Gln)
|
rs386833890
|
|
NM_004646.4(NPHS1):c.1745del (p.Lys582fs)
|
rs1057517021
|
|
NM_004646.4(NPHS1):c.1749del (p.Glu585fs)
|
|
|
NM_004646.4(NPHS1):c.1757+1G>A
|
rs1555762591
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
NM_004646.4(NPHS1):c.1801G>C (p.Gly601Arg)
|
rs386833893
|
|
NM_004646.4(NPHS1):c.1829T>A (p.Leu610Gln)
|
rs386833894
|
|
NM_004646.4(NPHS1):c.1836_1837dup (p.Ser613fs)
|
|
|
NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)
|
|
|
NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs)
|
|
|
NM_004646.4(NPHS1):c.1905C>T (p.Ser635=)
|
rs386833896
|
|
NM_004646.4(NPHS1):c.1921_1922delinsT (p.Asn641fs)
|
|
|
NM_004646.4(NPHS1):c.1928T>C (p.Leu643Pro)
|
rs386833898
|
|
NM_004646.4(NPHS1):c.1930+1G>A
|
|
|
NM_004646.4(NPHS1):c.1930+5G>A
|
|
|
NM_004646.4(NPHS1):c.1931-1G>A
|
rs1555762381
|
|
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)
|
|
|
NM_004646.4(NPHS1):c.1946del (p.Leu649fs)
|
|
|
NM_004646.4(NPHS1):c.1971del (p.Ala658fs)
|
rs1057517022
|
|
NM_004646.4(NPHS1):c.2010_2011del (p.Ser671fs)
|
|
|
NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)
|
rs191807913
|
|
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs)
|
rs755763002
|
|
NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)
|
|
|
NM_004646.4(NPHS1):c.2071+1G>T
|
rs2146822164
|
|
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.2114dup (p.His705fs)
|
|
|
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)
|
rs751809997
|
|
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)
|
rs386833902
|
|
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.2171C>G (p.Ser724Cys)
|
rs386833905
|
|
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)
|
rs386833906
|
|
NM_004646.4(NPHS1):c.2177del (p.Gly726fs)
|
rs2146821851
|
|
NM_004646.4(NPHS1):c.2179_2212+6del
|
|
|
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)
|
|
|
NM_004646.4(NPHS1):c.2216C>T (p.Ala739Val)
|
rs386833907
|
|
NM_004646.4(NPHS1):c.2225T>C (p.Ile742Thr)
|
rs386833908
|
|
NM_004646.4(NPHS1):c.2227del (p.Arg743fs)
|
rs386833910
|
|
NM_004646.4(NPHS1):c.2256_2257insAG (p.Val753fs)
|
|
|
NM_004646.4(NPHS1):c.2354_2355insTCGTCGTGCTGCT (p.Gln785fs)
|
|
|
NM_004646.4(NPHS1):c.2387del (p.Gly796fs)
|
rs1568453378
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro)
|
rs114203578
|
|
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
|
|
|
NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)
|
rs386833913
|
|
NM_004646.4(NPHS1):c.2495T>C (p.Leu832Pro)
|
rs386833916
|
|
NM_004646.4(NPHS1):c.2504_2505del (p.Arg835fs)
|
|
|
NM_004646.4(NPHS1):c.2506+1G>A
|
rs1973073001
|
|
NM_004646.4(NPHS1):c.2512C>A (p.Pro838Thr)
|
rs2146819513
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2541del (p.Lys848fs)
|
rs1555761997
|
|
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.2618_2620delinsCC (p.Phe873fs)
|
rs386833922
|
|
NM_004646.4(NPHS1):c.2624_2625del (p.Trp875fs)
|
|
|
NM_004646.4(NPHS1):c.2625G>A (p.Trp875Ter)
|
rs386833923
|
|
NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)
|
|
|
NM_004646.4(NPHS1):c.2663+2T>A
|
rs762392183
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2663_2663+9del
|
rs771953692
|
|
NM_004646.4(NPHS1):c.2664-4_2670del
|
rs386833924
|
|
NM_004646.4(NPHS1):c.2751_2754del (p.Phe918fs)
|
|
|
NM_004646.4(NPHS1):c.2770_2776del (p.Asn924fs)
|
rs386833925
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.2815+5G>A
|
rs386833927
|
|
NM_004646.4(NPHS1):c.2816-3T>G
|
|
|
NM_004646.4(NPHS1):c.2816-4_2822del
|
rs386833928
|
|
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)
|
|
|
NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)
|
|
|
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met)
|
rs114849139
|
|
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val)
|
rs386833929
|
|
NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu)
|
rs763902818
|
|
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)
|
|
|
NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys)
|
rs772979927
|
|
NM_004646.4(NPHS1):c.2905del (p.Leu969fs)
|
rs369410355
|
|
NM_004646.4(NPHS1):c.2927+1G>A
|
rs386833930
|
|
NM_004646.4(NPHS1):c.2927+2T>A
|
rs1973023048
|
|
NM_004646.4(NPHS1):c.2928-3del
|
|
|
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys)
|
rs2146816353
|
|
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.3006_3012del (p.Gln1004fs)
|
rs748819031
|
|
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)
|
|
|
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)
|
rs34124941
|
|
NM_004646.4(NPHS1):c.3115dup (p.His1039fs)
|
rs1057516637
|
|
NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)
|
|
|
NM_004646.4(NPHS1):c.3167-1G>A
|
rs1009762900
|
|
NM_004646.4(NPHS1):c.3177dup (p.Leu1060fs)
|
|
|
NM_004646.4(NPHS1):c.3224_3228del (p.Leu1075fs)
|
|
|
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.3287-2A>G
|
rs758432802
|
|
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>A
|
rs786204729
|
|
NM_004646.4(NPHS1):c.3329_3330del (p.Val1110fs)
|
|
|
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs)
|
rs1972879328
|
|
NM_004646.4(NPHS1):c.333C>A (p.Cys111Ter)
|
|
|
NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)
|
|
|
NM_004646.4(NPHS1):c.3352del (p.Gln1118fs)
|
|
|
NM_004646.4(NPHS1):c.3356_3357dup (p.Thr1120fs)
|
rs386833937
|
|
NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter)
|
|
|
NM_004646.4(NPHS1):c.3388-1G>A
|
rs730880176
|
|
NM_004646.4(NPHS1):c.3388-2A>G
|
rs386833938
|
|
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)
|
rs143092783
|
|
NM_004646.4(NPHS1):c.3481+4A>T
|
rs1057524695
|
|
NM_004646.4(NPHS1):c.3482-2A>C
|
|
|
NM_004646.4(NPHS1):c.3482G>T (p.Gly1161Val)
|
rs386833939
|
|
NM_004646.4(NPHS1):c.349_357delinsTATA (p.Glu117fs)
|
|
|
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.3613del (p.Trp1205fs)
|
rs1555758163
|
|
NM_004646.4(NPHS1):c.3619del (p.Glu1207fs)
|
rs1430464721
|
|
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
|
rs1186290245
|
|
NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)
|
|
|
NM_004646.4(NPHS1):c.3720_*9del (p.Val1241fs)
|
rs386833941
|
|
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.398-2A>G
|
rs1555763974
|
|
NM_004646.4(NPHS1):c.424_425del (p.Pro142fs)
|
|
|
NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs)
|
|
|
NM_004646.4(NPHS1):c.466dup (p.Tyr156fs)
|
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)
|
rs386833944
|
|
NM_004646.4(NPHS1):c.483_484del (p.Ser162fs)
|
|
|
NM_004646.4(NPHS1):c.490del (p.Asp164fs)
|
|
|
NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu)
|
rs386833945
|
|
NM_004646.4(NPHS1):c.508del (p.Asp170fs)
|
|
|
NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)
|
rs386833946
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.516del (p.Ile173fs)
|
rs386833948
|
|
NM_004646.4(NPHS1):c.518T>A (p.Ile173Asn)
|
rs386833949
|
|
NM_004646.4(NPHS1):c.526+1G>C
|
rs371515262
|
|
NM_004646.4(NPHS1):c.526+5G>C
|
rs386833950
|
|
NM_004646.4(NPHS1):c.547_548insC (p.Ile183fs)
|
|
|
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.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.621del (p.Ser208fs)
|
rs2146828521
|
|
NM_004646.4(NPHS1):c.641T>A (p.Leu214Ter)
|
|
|
NM_004646.4(NPHS1):c.661_662del (p.Ser221fs)
|
rs386833957
|
|
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.728C>T (p.Pro243Leu)
|
rs919999972
|
|
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)
|
rs386833959
|
|
NM_004646.4(NPHS1):c.739del (p.Trp247fs)
|
|
|
NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)
|
rs1555763503
|
|
NM_004646.4(NPHS1):c.841-2A>C
|
|
|
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)
|
|
|
NM_004646.4(NPHS1):c.851del (p.Pro284fs)
|
rs1555763460
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr)
|
rs386833962
|
|
NM_004646.4(NPHS1):c.902_909del (p.Val301fs)
|
|
|