ClinVar Miner

List of variants in gene NPHS1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1241
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=) rs2071327 0.31318
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) rs3814995 0.25613
NM_004646.4(NPHS1):c.2289C>T (p.Val763=) rs437168 0.15697
NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213 0.10689
NM_004646.4(NPHS1):c.1320C>T (p.Pro440=) rs392702 0.08969
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_004646.4(NPHS1):c.294C>T (p.Ile98=) rs2285450 0.04138
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.1930+12G>A rs528950 0.01172
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
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.1440+19C>T rs113470432 0.00498
NM_004646.4(NPHS1):c.2223C>T (p.Thr741=) rs2073901 0.00423
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.840+6G>A rs369975773 0.00388
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2816-16A>G rs184898050 0.00251
NM_004646.4(NPHS1):c.2072-6C>T rs200253809 0.00191
NM_004646.4(NPHS1):c.397+15C>T rs78237760 0.00180
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.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
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.1012+30C>T rs199659985 0.00092
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
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.803G>A (p.Arg268Gln) rs115308424 0.00052
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.699C>T (p.Thr233=) rs144398621 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.1987G>A (p.Glu663Lys) rs199604720 0.00028
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.1518G>C (p.Gly506=) rs201817433 0.00024
NM_004646.4(NPHS1):c.2745C>T (p.Tyr915=) rs571986062 0.00020
NM_004646.4(NPHS1):c.1790C>A (p.Ala597Asp) rs548304892 0.00019
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=) rs370276697 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.2482C>A (p.Arg828=) rs142956465 0.00016
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
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.1155G>A (p.Glu385=) rs139509052 0.00014
NM_004646.4(NPHS1):c.1233C>T (p.Asn411=) rs374218631 0.00014
NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg) rs368523939 0.00014
NM_004646.4(NPHS1):c.2874G>T (p.Gly958=) rs752337753 0.00014
NM_004646.4(NPHS1):c.3110-8C>T rs149878139 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.840+12C>T rs376240874 0.00014
NM_004646.4(NPHS1):c.1316-5G>A rs370099078 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.1012+17G>C rs373353156 0.00012
NM_004646.4(NPHS1):c.558C>T (p.Asn186=) rs370625224 0.00012
NM_004646.4(NPHS1):c.864G>A (p.Ala288=) rs183990039 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.792G>A (p.Pro264=) rs772404569 0.00011
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004646.4(NPHS1):c.492C>T (p.Asp164=) rs147569168 0.00010
NM_004646.4(NPHS1):c.1308C>T (p.Asn436=) rs372707993 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.3312-7C>T rs376899364 0.00009
NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=) rs115670171 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.3594+8G>A rs371773715 0.00009
NM_004646.4(NPHS1):c.816C>T (p.Pro272=) rs750860550 0.00009
NM_004646.4(NPHS1):c.888G>A (p.Ala296=) rs531224038 0.00009
NM_004646.4(NPHS1):c.1113G>C (p.Leu371=) rs547598963 0.00008
NM_004646.4(NPHS1):c.1315+7C>T rs370645778 0.00008
NM_004646.4(NPHS1):c.1761G>A (p.Leu587=) rs374495301 0.00008
NM_004646.4(NPHS1):c.2733C>T (p.Ala911=) rs542589425 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.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2309C>T (p.Pro770Leu) rs115976159 0.00007
NM_004646.4(NPHS1):c.3654C>T (p.Asp1218=) rs766025346 0.00007
NM_004646.4(NPHS1):c.826C>T (p.Leu276=) rs201881730 0.00007
NM_004646.4(NPHS1):c.1170+9G>A rs531263446 0.00006
NM_004646.4(NPHS1):c.1316-6C>T rs756437220 0.00006
NM_004646.4(NPHS1):c.1725G>T (p.Pro575=) rs140859903 0.00006
NM_004646.4(NPHS1):c.1875C>G (p.Ala625=) rs771165897 0.00006
NM_004646.4(NPHS1):c.2071+7G>A rs930786890 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 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.3047G>A (p.Ser1016Asn) rs367986918 0.00006
NM_004646.4(NPHS1):c.3114C>T (p.Leu1038=) rs373756773 0.00006
NM_004646.4(NPHS1):c.3311+14T>C rs375587420 0.00006
NM_004646.4(NPHS1):c.3388-13G>A rs543338200 0.00006
NM_004646.4(NPHS1):c.3594+13G>T rs756165265 0.00006
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter) rs749341977 0.00006
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=) rs149815919 0.00005
NM_004646.4(NPHS1):c.1440+12G>A rs112404427 0.00005
NM_004646.4(NPHS1):c.1731C>A (p.Asn577Lys) rs752025751 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
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.495G>A (p.Ala165=) rs533934522 0.00005
NM_004646.4(NPHS1):c.973G>T (p.Ala325Ser) rs376401690 0.00005
NM_004646.4(NPHS1):c.1068C>T (p.Asn356=) rs377066855 0.00004
NM_004646.4(NPHS1):c.1245C>A (p.Leu415=) rs183976569 0.00004
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.1581G>A (p.Thr527=) rs373958752 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.1863G>A (p.Val621=) rs759305846 0.00004
NM_004646.4(NPHS1):c.1998G>T (p.Leu666=) rs569310327 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.2886G>A (p.Lys962=) rs759045644 0.00004
NM_004646.4(NPHS1):c.2922C>T (p.Cys974=) rs371778328 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 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.3411G>A (p.Pro1137=) rs767372610 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004646.4(NPHS1):c.3627A>G (p.Thr1209=) rs150319882 0.00004
NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=) rs116744687 0.00004
NM_004646.4(NPHS1):c.3703G>A (p.Glu1235Lys) rs770046720 0.00004
NM_004646.4(NPHS1):c.608+10C>G rs201307063 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.1378C>T (p.Arg460Trp) rs749319334 0.00003
NM_004646.4(NPHS1):c.1482G>A (p.Ser494=) rs549535993 0.00003
NM_004646.4(NPHS1):c.1548C>T (p.Val516=) rs777702892 0.00003
NM_004646.4(NPHS1):c.1627+10C>A rs1342162613 0.00003
NM_004646.4(NPHS1):c.1628-10C>G rs996998931 0.00003
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.2013C>T (p.Ser671=) rs775801945 0.00003
NM_004646.4(NPHS1):c.2580C>T (p.Thr860=) rs545068152 0.00003
NM_004646.4(NPHS1):c.2613C>T (p.Ile871=) rs200476427 0.00003
NM_004646.4(NPHS1):c.2664-7T>C rs910612404 0.00003
NM_004646.4(NPHS1):c.2724C>T (p.Asn908=) rs200269176 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.291C>T (p.His97=) rs767994137 0.00003
NM_004646.4(NPHS1):c.2927+14G>A rs371670899 0.00003
NM_004646.4(NPHS1):c.2970C>T (p.Val990=) rs778497725 0.00003
NM_004646.4(NPHS1):c.3111T>A (p.Gly1037=) rs765621356 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_004646.4(NPHS1):c.3649T>G (p.Tyr1217Asp) rs114879227 0.00003
NM_004646.4(NPHS1):c.366C>T (p.Leu122=) rs770394555 0.00003
NM_004646.4(NPHS1):c.398-6C>T rs774272363 0.00003
NM_004646.4(NPHS1):c.526+7G>A rs747060506 0.00003
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser) rs748287435 0.00003
NM_004646.4(NPHS1):c.1036T>C (p.Leu346=) rs201208397 0.00002
NM_004646.4(NPHS1):c.1171-8C>T rs1203548780 0.00002
NM_004646.4(NPHS1):c.1206G>A (p.Leu402=) rs368174279 0.00002
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.1806C>T (p.Ser602=) rs755313283 0.00002
NM_004646.4(NPHS1):c.2100C>T (p.Ser700=) rs570753181 0.00002
NM_004646.4(NPHS1):c.2148C>T (p.Leu716=) rs760024099 0.00002
NM_004646.4(NPHS1):c.2256C>T (p.Asn752=) rs530683414 0.00002
NM_004646.4(NPHS1):c.2305C>T (p.Leu769Phe) rs747892169 0.00002
NM_004646.4(NPHS1):c.2394G>A (p.Thr798=) rs745911246 0.00002
NM_004646.4(NPHS1):c.2412C>T (p.His804=) rs760156323 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala) rs370844834 0.00002
NM_004646.4(NPHS1):c.3069A>C (p.Gly1023=) rs755673117 0.00002
NM_004646.4(NPHS1):c.3084G>A (p.Gly1028=) rs767506475 0.00002
NM_004646.4(NPHS1):c.3110-11C>T rs375280393 0.00002
NM_004646.4(NPHS1):c.3147G>T (p.Leu1049=) rs553532165 0.00002
NM_004646.4(NPHS1):c.3171C>G (p.Pro1057=) rs770460355 0.00002
NM_004646.4(NPHS1):c.3174G>A (p.Ser1058=) rs1329741277 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 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.3523T>C (p.Leu1175=) rs765534466 0.00002
NM_004646.4(NPHS1):c.3549C>T (p.Tyr1183=) rs767887213 0.00002
NM_004646.4(NPHS1):c.3579C>T (p.Tyr1193=) rs747950877 0.00002
NM_004646.4(NPHS1):c.3591G>C (p.Gln1197His) rs779334665 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.657G>A (p.Ala219=) rs369293172 0.00002
NM_004646.4(NPHS1):c.750G>C (p.Leu250=) rs1296113125 0.00002
NM_004646.4(NPHS1):c.841-12C>G rs532123637 0.00002
NM_004646.4(NPHS1):c.915C>T (p.Thr305=) rs751438123 0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_004646.4(NPHS1):c.939G>A (p.Ala313=) rs775863701 0.00002
NM_004646.4(NPHS1):c.1013-7C>T rs1231415297 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1083T>C (p.Cys361=) rs762275137 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.1116A>G (p.Leu372=) rs754807470 0.00001
NM_004646.4(NPHS1):c.1182C>T (p.Gly394=) rs1194525639 0.00001
NM_004646.4(NPHS1):c.1212C>T (p.Phe404=) rs1568455701 0.00001
NM_004646.4(NPHS1):c.1218G>A (p.Ala406=) rs765774526 0.00001
NM_004646.4(NPHS1):c.1316-9C>T rs1309562728 0.00001
NM_004646.4(NPHS1):c.1341G>A (p.Glu447=) rs766299951 0.00001
NM_004646.4(NPHS1):c.1347C>T (p.Pro449=) rs760411926 0.00001
NM_004646.4(NPHS1):c.1365C>G (p.Leu455=) rs1481982336 0.00001
NM_004646.4(NPHS1):c.1383G>A (p.Val461=) rs1212576919 0.00001
NM_004646.4(NPHS1):c.1440+11C>T rs750251097 0.00001
NM_004646.4(NPHS1):c.1440+9C>T rs756048226 0.00001
NM_004646.4(NPHS1):c.1473G>A (p.Pro491=) rs1233061200 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1497C>T (p.Leu499=) rs1028523589 0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1560G>A (p.Ser520=) rs1473823723 0.00001
NM_004646.4(NPHS1):c.1596G>A (p.Gln532=) rs761166929 0.00001
NM_004646.4(NPHS1):c.1665C>T (p.Ser555=) rs746480988 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.1727T>C (p.Val576Ala) rs757670920 0.00001
NM_004646.4(NPHS1):c.1731C>T (p.Asn577=) rs752025751 0.00001
NM_004646.4(NPHS1):c.1757+7G>C rs1224534045 0.00001
NM_004646.4(NPHS1):c.1809C>G (p.Ala603=) rs750051292 0.00001
NM_004646.4(NPHS1):c.1842C>T (p.Ser614=) rs761251314 0.00001
NM_004646.4(NPHS1):c.1860C>G (p.Arg620=) rs1396212401 0.00001
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=) rs748680209 0.00001
NM_004646.4(NPHS1):c.1930+8C>T rs752633403 0.00001
NM_004646.4(NPHS1):c.1932C>T (p.Tyr644=) rs765128171 0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899 0.00001
NM_004646.4(NPHS1):c.2076C>A (p.Gly692=) rs759936184 0.00001
NM_004646.4(NPHS1):c.2130C>G (p.Thr710=) rs1288732782 0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) rs764181464 0.00001
NM_004646.4(NPHS1):c.2208G>A (p.Val736=) rs988385367 0.00001
NM_004646.4(NPHS1):c.2213-8T>C rs1973091364 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.2479C>T (p.Arg827Ter) rs140018064 0.00001
NM_004646.4(NPHS1):c.2484G>C (p.Arg828=) rs1028293623 0.00001
NM_004646.4(NPHS1):c.2507-14C>T rs777015846 0.00001
NM_004646.4(NPHS1):c.2507-9C>T rs1346422229 0.00001
NM_004646.4(NPHS1):c.2526C>T (p.His842=) rs934821806 0.00001
NM_004646.4(NPHS1):c.2536C>T (p.Leu846=) rs1359142936 0.00001
NM_004646.4(NPHS1):c.2562C>T (p.Asp854=) rs1365879437 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.2607C>T (p.Pro869=) rs760967681 0.00001
NM_004646.4(NPHS1):c.2622T>C (p.Thr874=) rs886038551 0.00001
NM_004646.4(NPHS1):c.2634C>T (p.Asn878=) rs746676515 0.00001
NM_004646.4(NPHS1):c.2640C>A (p.Val880=) rs1442240605 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.2697C>T (p.Val899=) rs773723576 0.00001
NM_004646.4(NPHS1):c.2709C>A (p.Leu903=) rs1206323833 0.00001
NM_004646.4(NPHS1):c.275-6C>T rs766998264 0.00001
NM_004646.4(NPHS1):c.275-7C>T rs368840281 0.00001
NM_004646.4(NPHS1):c.2751C>T (p.Leu917=) rs1306275198 0.00001
NM_004646.4(NPHS1):c.2793C>T (p.Thr931=) rs1271949197 0.00001
NM_004646.4(NPHS1):c.2815+10G>C rs1339898496 0.00001
NM_004646.4(NPHS1):c.2850G>A (p.Val950=) rs754338082 0.00001
NM_004646.4(NPHS1):c.285C>T (p.His95=) rs1285647582 0.00001
NM_004646.4(NPHS1):c.2868C>T (p.Ser956=) rs564177188 0.00001
NM_004646.4(NPHS1):c.2889T>C (p.Pro963=) rs776455373 0.00001
NM_004646.4(NPHS1):c.2905C>T (p.Leu969=) rs368639377 0.00001
NM_004646.4(NPHS1):c.2927+8C>T rs1391060429 0.00001
NM_004646.4(NPHS1):c.2997G>A (p.Thr999=) rs761640910 0.00001
NM_004646.4(NPHS1):c.3006T>C (p.Gly1002=) rs763247816 0.00001
NM_004646.4(NPHS1):c.3007C>T (p.Leu1003=) rs1181480868 0.00001
NM_004646.4(NPHS1):c.3057G>A (p.Leu1019=) rs1416263377 0.00001
NM_004646.4(NPHS1):c.3093T>C (p.Leu1031=) rs751392621 0.00001
NM_004646.4(NPHS1):c.3109+2T>G rs765534006 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.3183C>T (p.Pro1061=) rs1332866310 0.00001
NM_004646.4(NPHS1):c.318C>T (p.Asp106=) rs770909581 0.00001
NM_004646.4(NPHS1):c.3195G>A (p.Val1065=) rs778944343 0.00001
NM_004646.4(NPHS1):c.3201C>T (p.Phe1067=) rs749058353 0.00001
NM_004646.4(NPHS1):c.321G>A (p.Ala107=) rs145630223 0.00001
NM_004646.4(NPHS1):c.327T>C (p.Tyr109=) rs779228955 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.3287-7C>G rs368552957 0.00001
NM_004646.4(NPHS1):c.3336C>T (p.Asn1112=) rs1053234526 0.00001
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys) rs760440966 0.00001
NM_004646.4(NPHS1):c.333C>T (p.Cys111=) rs755089331 0.00001
NM_004646.4(NPHS1):c.339C>T (p.Val113=) rs753965461 0.00001
NM_004646.4(NPHS1):c.3453G>A (p.Pro1151=) rs905105064 0.00001
NM_004646.4(NPHS1):c.345C>T (p.Arg115=) rs1250426170 0.00001
NM_004646.4(NPHS1):c.3528T>C (p.Tyr1176=) rs755175583 0.00001
NM_004646.4(NPHS1):c.3546G>A (p.Thr1182=) rs761090110 0.00001
NM_004646.4(NPHS1):c.3552C>A (p.Pro1184=) rs929540764 0.00001
NM_004646.4(NPHS1):c.3555G>A (p.Pro1185=) rs745445890 0.00001
NM_004646.4(NPHS1):c.3594+9C>T rs766396905 0.00001
NM_004646.4(NPHS1):c.384C>A (p.Ile128=) rs773960831 0.00001
NM_004646.4(NPHS1):c.393C>T (p.Ile131=) rs181246281 0.00001
NM_004646.4(NPHS1):c.526+9G>A rs778174726 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.549C>T (p.Ile183=) rs768989615 0.00001
NM_004646.4(NPHS1):c.555A>G (p.Ala185=) rs749618977 0.00001
NM_004646.4(NPHS1):c.564C>T (p.Asn188=) rs777413177 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.692C>A (p.Ser231Ter) rs386833958 0.00001
NM_004646.4(NPHS1):c.713-7C>T rs768156620 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.729T>C (p.Pro243=) rs1267731770 0.00001
NM_004646.4(NPHS1):c.831G>A (p.Gln277=) rs1385965441 0.00001
NM_004646.4(NPHS1):c.882C>A (p.Thr294=) rs1568456184 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004646.4(NPHS1):c.938C>T (p.Ala313Val) rs755752316 0.00001
NM_004646.4(NPHS1):c.990C>T (p.His330=) rs151213410 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.(?_36317416)_(36317567_?)dup
NC_000019.9:g.(?_36330129)_(36330519_?)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.1000C>T (p.Leu334=)
NM_004646.4(NPHS1):c.1012+10G>C rs1296199953
NM_004646.4(NPHS1):c.1012+2T>A
NM_004646.4(NPHS1):c.1013-10G>C
NM_004646.4(NPHS1):c.1013-12C>A
NM_004646.4(NPHS1):c.1013-17C>T
NM_004646.4(NPHS1):c.1013-20T>C
NM_004646.4(NPHS1):c.1013-5T>C rs1354790062
NM_004646.4(NPHS1):c.1013-9T>C rs2146827251
NM_004646.4(NPHS1):c.1018_1019del (p.Pro339_Pro340insTer)
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1026C>T (p.Ala342=)
NM_004646.4(NPHS1):c.1032T>A (p.Ile344=)
NM_004646.4(NPHS1):c.1035C>T (p.Ile345=) rs1568455968
NM_004646.4(NPHS1):c.1044T>C (p.Ser348=)
NM_004646.4(NPHS1):c.1049C>A (p.Ser350Tyr) rs570069789
NM_004646.4(NPHS1):c.1053G>A (p.Gln351=) rs2146827188
NM_004646.4(NPHS1):c.1059G>A (p.Glu353=) rs2146827171
NM_004646.4(NPHS1):c.1065G>A (p.Lys355=) rs966140756
NM_004646.4(NPHS1):c.1074A>C (p.Thr358=)
NM_004646.4(NPHS1):c.1074A>G (p.Thr358=) rs1973182568
NM_004646.4(NPHS1):c.1092G>A (p.Lys364=) rs2146827126
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1097G>A (p.Ser366Asn) rs2146827117
NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser) rs386833866
NM_004646.4(NPHS1):c.1104G>T (p.Pro368=)
NM_004646.4(NPHS1):c.1113G>A (p.Leu371=)
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.1126C>T (p.Leu376=) rs386833868
NM_004646.4(NPHS1):c.1131C>T (p.Gly377=) rs1450827580
NM_004646.4(NPHS1):c.1135C>A (p.Arg379=)
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp) rs386833871
NM_004646.4(NPHS1):c.1143G>T (p.Leu381=)
NM_004646.4(NPHS1):c.1149C>T (p.Pro383=)
NM_004646.4(NPHS1):c.1156G>T (p.Glu386Ter) rs1973180778
NM_004646.4(NPHS1):c.1159_1160insTT (p.Thr387fs)
NM_004646.4(NPHS1):c.1167G>A (p.Met389Ile)
NM_004646.4(NPHS1):c.1170+10G>A
NM_004646.4(NPHS1):c.1170+12G>A
NM_004646.4(NPHS1):c.1170+14C>T
NM_004646.4(NPHS1):c.1170+17G>A
NM_004646.4(NPHS1):c.1170+17G>C
NM_004646.4(NPHS1):c.1170+18C>A
NM_004646.4(NPHS1):c.1171-11C>T
NM_004646.4(NPHS1):c.1171-19G>A
NM_004646.4(NPHS1):c.1171-4C>T
NM_004646.4(NPHS1):c.1173A>G (p.Gly391=)
NM_004646.4(NPHS1):c.1189A>C (p.Ile397Leu) rs1973175925
NM_004646.4(NPHS1):c.1220G>A (p.Arg407Gln)
NM_004646.4(NPHS1):c.1221G>A (p.Arg407=)
NM_004646.4(NPHS1):c.1224G>A (p.Arg408=)
NM_004646.4(NPHS1):c.1227G>A (p.Glu409=)
NM_004646.4(NPHS1):c.1235del (p.Gly412fs) rs1161720919
NM_004646.4(NPHS1):c.1237C>T (p.Leu413=) rs769675313
NM_004646.4(NPHS1):c.1239G>A (p.Leu413=) rs1568455667
NM_004646.4(NPHS1):c.1248A>G (p.Thr416=) rs2146826542
NM_004646.4(NPHS1):c.1274C>T (p.Thr425Ile)
NM_004646.4(NPHS1):c.1275C>T (p.Thr425=)
NM_004646.4(NPHS1):c.1278G>A (p.Lys426=) rs2146826515
NM_004646.4(NPHS1):c.1279G>T (p.Glu427Ter) rs2146826513
NM_004646.4(NPHS1):c.1281G>A (p.Glu427=)
NM_004646.4(NPHS1):c.1284C>T (p.Thr428=) rs1467425930
NM_004646.4(NPHS1):c.1292dup (p.Ser432fs) rs386833877
NM_004646.4(NPHS1):c.1293G>A (p.Lys431=) rs2146826490
NM_004646.4(NPHS1):c.1296G>A (p.Ser432=) rs766646699
NM_004646.4(NPHS1):c.1296G>C (p.Ser432=)
NM_004646.4(NPHS1):c.1303C>T (p.Leu435=)
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1315+11G>A
NM_004646.4(NPHS1):c.1315+12C>A
NM_004646.4(NPHS1):c.1315+15T>C
NM_004646.4(NPHS1):c.1316-10del
NM_004646.4(NPHS1):c.1316-1G>C rs1973171785
NM_004646.4(NPHS1):c.1316-4C>A rs1286392412
NM_004646.4(NPHS1):c.1316-5G>C rs370099078
NM_004646.4(NPHS1):c.1316-5G>T rs370099078
NM_004646.4(NPHS1):c.1323C>G (p.Ala441=) rs2146826325
NM_004646.4(NPHS1):c.1332G>A (p.Leu444=) rs2146826319
NM_004646.4(NPHS1):c.1332G>C (p.Leu444=)
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.1365C>T (p.Leu455=)
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)
NM_004646.4(NPHS1):c.1368G>C (p.Arg456=)
NM_004646.4(NPHS1):c.1370C>T (p.Ala457Val)
NM_004646.4(NPHS1):c.1377C>G (p.Thr459=) rs2146826258
NM_004646.4(NPHS1):c.1396T>C (p.Leu466=) rs1386952727
NM_004646.4(NPHS1):c.1404C>T (p.Ile468=)
NM_004646.4(NPHS1):c.1407G>A (p.Gly469=) rs2146826214
NM_004646.4(NPHS1):c.1410C>A (p.Gly470=) rs1421555061
NM_004646.4(NPHS1):c.1422del (p.Ser475fs)
NM_004646.4(NPHS1):c.1437C>G (p.Tyr479Ter)
NM_004646.4(NPHS1):c.1440+10A>C
NM_004646.4(NPHS1):c.1440+13_1440+15dup
NM_004646.4(NPHS1):c.1440+14del
NM_004646.4(NPHS1):c.1440+1G>A
NM_004646.4(NPHS1):c.1440+8C>T
NM_004646.4(NPHS1):c.1441-10C>T
NM_004646.4(NPHS1):c.1441-11C>T
NM_004646.4(NPHS1):c.1441-12C>G
NM_004646.4(NPHS1):c.1441-13T>G
NM_004646.4(NPHS1):c.1441-16C>T
NM_004646.4(NPHS1):c.1441-1G>T rs2146824388
NM_004646.4(NPHS1):c.1441-20_1441-19del
NM_004646.4(NPHS1):c.1441-4G>A rs1368991613
NM_004646.4(NPHS1):c.1441-6C>T
NM_004646.4(NPHS1):c.1441-7C>T
NM_004646.4(NPHS1):c.1441-8G>A
NM_004646.4(NPHS1):c.1446G>C (p.Ser482=)
NM_004646.4(NPHS1):c.1449C>T (p.Arg483=)
NM_004646.4(NPHS1):c.1464G>A (p.Ser488=) rs1421407983
NM_004646.4(NPHS1):c.1467G>A (p.Arg489=)
NM_004646.4(NPHS1):c.1469_1486dup (p.Leu490_Arg495dup) rs1973137901
NM_004646.4(NPHS1):c.1488C>G (p.Arg496=)
NM_004646.4(NPHS1):c.1488C>T (p.Arg496=) rs1973137793
NM_004646.4(NPHS1):c.1504G>A (p.Val502Met)
NM_004646.4(NPHS1):c.1509G>A (p.Glu503=)
NM_004646.4(NPHS1):c.1518G>A (p.Gly506=)
NM_004646.4(NPHS1):c.1524C>T (p.Thr508=) rs2146824268
NM_004646.4(NPHS1):c.1530C>T (p.Ser510=) rs2146824266
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
NM_004646.4(NPHS1):c.1531dup (p.Arg511fs)
NM_004646.4(NPHS1):c.1554G>A (p.Gly518=)
NM_004646.4(NPHS1):c.1559C>A (p.Ser520Ter)
NM_004646.4(NPHS1):c.1560G>T (p.Ser520=)
NM_004646.4(NPHS1):c.1563C>T (p.Asp521=) rs752970477
NM_004646.4(NPHS1):c.1567C>T (p.Gln523Ter) rs1447842872
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.1572C>G (p.Ala524=) rs1973136323
NM_004646.4(NPHS1):c.1576T>C (p.Phe526Leu)
NM_004646.4(NPHS1):c.1599C>T (p.Leu533=) rs772497943
NM_004646.4(NPHS1):c.1605G>A (p.Ala535=)
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1611G>T (p.Thr537=)
NM_004646.4(NPHS1):c.1620G>A (p.Ala540=)
NM_004646.4(NPHS1):c.1623G>T (p.Val541=)
NM_004646.4(NPHS1):c.1627+20A>G
NM_004646.4(NPHS1):c.1627+8C>G rs2146824088
NM_004646.4(NPHS1):c.1627+9T>C
NM_004646.4(NPHS1):c.1628-10C>T rs996998931
NM_004646.4(NPHS1):c.1628-10del rs773134091
NM_004646.4(NPHS1):c.1628-11C>T
NM_004646.4(NPHS1):c.1628-13C>T
NM_004646.4(NPHS1):c.1628-4C>T
NM_004646.4(NPHS1):c.1628-5C>T rs893324721
NM_004646.4(NPHS1):c.1632C>G (p.Pro544=) rs1973131185
NM_004646.4(NPHS1):c.1641C>A (p.Asn547Lys)
NM_004646.4(NPHS1):c.1647G>A (p.Thr549=)
NM_004646.4(NPHS1):c.1650C>T (p.Ile550=) rs2146823783
NM_004646.4(NPHS1):c.1659C>T (p.Asn553=) rs1211725824
NM_004646.4(NPHS1):c.1661dup (p.Ser555fs)
NM_004646.4(NPHS1):c.1665C>G (p.Ser555=)
NM_004646.4(NPHS1):c.1668A>G (p.Ala556=)
NM_004646.4(NPHS1):c.1668A>T (p.Ala556=) rs1973130675
NM_004646.4(NPHS1):c.1669C>T (p.Leu557=) rs2146823762
NM_004646.4(NPHS1):c.1674C>A (p.Arg558=)
NM_004646.4(NPHS1):c.1677G>T (p.Pro559=) rs760071587
NM_004646.4(NPHS1):c.1692C>T (p.Asn564=) rs2146823744
NM_004646.4(NPHS1):c.1693T>C (p.Leu565=)
NM_004646.4(NPHS1):c.1695G>A (p.Leu565=)
NM_004646.4(NPHS1):c.1698A>T (p.Thr566=) rs748014853
NM_004646.4(NPHS1):c.1701C>T (p.Cys567=) rs386833887
NM_004646.4(NPHS1):c.1722G>A (p.Pro574=)
NM_004646.4(NPHS1):c.1722G>T (p.Pro574=)
NM_004646.4(NPHS1):c.1725G>A (p.Pro575=)
NM_004646.4(NPHS1):c.1725G>C (p.Pro575=) rs140859903
NM_004646.4(NPHS1):c.1734G>A (p.Leu578=) rs1973129633
NM_004646.4(NPHS1):c.1737C>T (p.Ser579=)
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.1749A>G (p.Glu583=) rs2146823658
NM_004646.4(NPHS1):c.1753del (p.Glu585fs) rs2146823645
NM_004646.4(NPHS1):c.1757+11G>T
NM_004646.4(NPHS1):c.1757+17T>A
NM_004646.4(NPHS1):c.1757+18C>A
NM_004646.4(NPHS1):c.1757+9G>T rs2146823629
NM_004646.4(NPHS1):c.1758-10G>C rs2146823474
NM_004646.4(NPHS1):c.1758-12C>G
NM_004646.4(NPHS1):c.1758-14C>A
NM_004646.4(NPHS1):c.1758-16G>T
NM_004646.4(NPHS1):c.1758-9G>C
NM_004646.4(NPHS1):c.1758-9G>T
NM_004646.4(NPHS1):c.1763A>G (p.Glu588Gly)
NM_004646.4(NPHS1):c.1768_1772del (p.Val590fs) rs2146823441
NM_004646.4(NPHS1):c.1782C>T (p.Pro594=) rs2146823408
NM_004646.4(NPHS1):c.1785G>A (p.Arg595=) rs1386661891
NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg) rs566516658
NM_004646.4(NPHS1):c.1809C>T (p.Ala603=)
NM_004646.4(NPHS1):c.1812C>T (p.Ala604=) rs2146823363
NM_004646.4(NPHS1):c.1815C>T (p.Ala605=) rs2146823358
NM_004646.4(NPHS1):c.1815del (p.Arg606fs) rs1973124127
NM_004646.4(NPHS1):c.1824C>T (p.Val608=) rs2146823346
NM_004646.4(NPHS1):c.1825del (p.Leu609fs) rs1973123878
NM_004646.4(NPHS1):c.1831C>T (p.Gln611Ter)
NM_004646.4(NPHS1):c.1845C>T (p.Arg615=) rs1330493771
NM_004646.4(NPHS1):c.1859_1878del (p.Arg620fs)
NM_004646.4(NPHS1):c.1860C>T (p.Arg620=) rs1396212401
NM_004646.4(NPHS1):c.1867T>C (p.Cys623Arg) rs2146823273
NM_004646.4(NPHS1):c.1878C>T (p.His626=)
NM_004646.4(NPHS1):c.1881C>T (p.Ser627=)
NM_004646.4(NPHS1):c.1884C>T (p.Ala628=)
NM_004646.4(NPHS1):c.1890C>G (p.Leu630=)
NM_004646.4(NPHS1):c.1893C>G (p.Arg631=)
NM_004646.4(NPHS1):c.1893C>T (p.Arg631=) rs1973121750
NM_004646.4(NPHS1):c.1902G>C (p.Val634=) rs2146823216
NM_004646.4(NPHS1):c.1908C>A (p.Ser636=) rs34761059
NM_004646.4(NPHS1):c.1908_1909insGAGAGGAGGTCGCGGCGCCGGAGGCCCCAGAAGGGTCGACGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACCGTGAGCTCC (p.Phe637delinsGluArgArgSerArgArgArgArgProGlnLysGlyArgArgArgArgGlyLeuGlySerValAlaTer) rs2146823207
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
NM_004646.4(NPHS1):c.1914T>A (p.Tyr638Ter)
NM_004646.4(NPHS1):c.1930+11C>T
NM_004646.4(NPHS1):c.1930+13G>T
NM_004646.4(NPHS1):c.1930+9C>T rs765175429
NM_004646.4(NPHS1):c.1931-10C>T
NM_004646.4(NPHS1):c.1931-12C>A
NM_004646.4(NPHS1):c.1931-12C>T
NM_004646.4(NPHS1):c.1931-18G>T
NM_004646.4(NPHS1):c.1931-20C>T
NM_004646.4(NPHS1):c.1935T>C (p.Arg645=) rs2146822391
NM_004646.4(NPHS1):c.1947G>C (p.Leu649=)
NM_004646.4(NPHS1):c.1959G>A (p.Val653=)
NM_004646.4(NPHS1):c.1968G>A (p.Val656=) rs115989220
NM_004646.4(NPHS1):c.1971del (p.Ala658fs) rs1057517022
NM_004646.4(NPHS1):c.1974G>T (p.Ala658=)
NM_004646.4(NPHS1):c.1980G>A (p.Glu660=)
NM_004646.4(NPHS1):c.1986C>A (p.Gly662=)
NM_004646.4(NPHS1):c.1989G>A (p.Glu663=) rs909573287
NM_004646.4(NPHS1):c.1992G>A (p.Ala664=)
NM_004646.4(NPHS1):c.1996C>T (p.Leu666=) rs1483058711
NM_004646.4(NPHS1):c.2001C>A (p.Pro667=) rs1437050024
NM_004646.4(NPHS1):c.2001C>G (p.Pro667=) rs1437050024
NM_004646.4(NPHS1):c.2001C>T (p.Pro667=) rs1437050024
NM_004646.4(NPHS1):c.2004G>A (p.Val668=) rs2146822272
NM_004646.4(NPHS1):c.2007C>G (p.Ser669=) rs1220717950
NM_004646.4(NPHS1):c.2010G>A (p.Val670=) rs557429831
NM_004646.4(NPHS1):c.2010G>T (p.Val670=) rs557429831
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs) rs755763002
NM_004646.4(NPHS1):c.2024C>T (p.Ala675Val)
NM_004646.4(NPHS1):c.2025C>T (p.Ala675=) rs2146822227
NM_004646.4(NPHS1):c.2028C>G (p.Pro676=) rs568455670
NM_004646.4(NPHS1):c.2028C>T (p.Pro676=) rs568455670
NM_004646.4(NPHS1):c.2031G>A (p.Glu677=)
NM_004646.4(NPHS1):c.2034C>A (p.Ala678=)
NM_004646.4(NPHS1):c.2034C>T (p.Ala678=) rs1973104976
NM_004646.4(NPHS1):c.2053G>T (p.Gly685Cys)
NM_004646.4(NPHS1):c.2064C>A (p.Leu688=)
NM_004646.4(NPHS1):c.2071+10G>C
NM_004646.4(NPHS1):c.2071+18G>A
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2071+2del rs2146822162
NM_004646.4(NPHS1):c.2072-10C>T rs1973103562
NM_004646.4(NPHS1):c.2072-11G>A
NM_004646.4(NPHS1):c.2072-17A>C
NM_004646.4(NPHS1):c.2072-18T>C
NM_004646.4(NPHS1):c.2072-20C>G
NM_004646.4(NPHS1):c.2072-20C>T
NM_004646.4(NPHS1):c.2072-3del rs1376947644
NM_004646.4(NPHS1):c.2072-4C>A
NM_004646.4(NPHS1):c.2072-4C>G
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2072-6C>A rs200253809
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2072-8T>G rs2146822085
NM_004646.4(NPHS1):c.2076C>T (p.Gly692=) rs759936184
NM_004646.4(NPHS1):c.2079C>A (p.Gly693=) rs771770193
NM_004646.4(NPHS1):c.2083C>T (p.Arg695Trp) rs2146822039
NM_004646.4(NPHS1):c.2090_2094del (p.Arg697fs) rs2146822012
NM_004646.4(NPHS1):c.2094C>A (p.Ile698=)
NM_004646.4(NPHS1):c.2094C>T (p.Ile698=)
NM_004646.4(NPHS1):c.2103C>T (p.Ser701=) rs756084932
NM_004646.4(NPHS1):c.2109T>A (p.Ala703=) rs1292318590
NM_004646.4(NPHS1):c.2112G>T (p.Leu704=)
NM_004646.4(NPHS1):c.2113C>T (p.His705Tyr)
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter) rs751809997
NM_004646.4(NPHS1):c.2132G>C (p.Arg711Pro) rs926025297
NM_004646.4(NPHS1):c.2135_2136del (p.Ala712fs)
NM_004646.4(NPHS1):c.2136G>A (p.Ala712=)
NM_004646.4(NPHS1):c.2137del (p.Asp713fs)
NM_004646.4(NPHS1):c.2139C>T (p.Asp713=)
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2169C>T (p.Asn723=) rs768173284
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.4(NPHS1):c.2175G>A (p.Glu725=) rs1599842611
NM_004646.4(NPHS1):c.2190G>C (p.Ala730=) rs779704068
NM_004646.4(NPHS1):c.2199dup (p.Leu734fs)
NM_004646.4(NPHS1):c.2201T>G (p.Leu734Arg) rs781209508
NM_004646.4(NPHS1):c.2205C>T (p.Asp735=)
NM_004646.4(NPHS1):c.2210A>C (p.His737Pro)
NM_004646.4(NPHS1):c.2212+12C>T
NM_004646.4(NPHS1):c.2212+16C>T
NM_004646.4(NPHS1):c.2212+17A>G
NM_004646.4(NPHS1):c.2212+17_2212+34del
NM_004646.4(NPHS1):c.2212+18T>C
NM_004646.4(NPHS1):c.2212+18T>G
NM_004646.4(NPHS1):c.2212+8C>G
NM_004646.4(NPHS1):c.2212+9C>T
NM_004646.4(NPHS1):c.2213-17C>T
NM_004646.4(NPHS1):c.2213-4C>T
NM_004646.4(NPHS1):c.2213-5A>G
NM_004646.4(NPHS1):c.2226C>A (p.Ile742=)
NM_004646.4(NPHS1):c.2228G>A (p.Arg743His)
NM_004646.4(NPHS1):c.2232C>T (p.Ala744=) rs2146821081
NM_004646.4(NPHS1):c.2235C>G (p.Leu745=) rs1201392681
NM_004646.4(NPHS1):c.2250G>A (p.Glu750=) rs2146821062
NM_004646.4(NPHS1):c.2257G>A (p.Val753Ile) rs753894951
NM_004646.4(NPHS1):c.2259C>T (p.Val753=) rs766951918
NM_004646.4(NPHS1):c.2265T>C (p.Gly755=)
NM_004646.4(NPHS1):c.2271G>T (p.Val757=)
NM_004646.4(NPHS1):c.2283C>T (p.Cys761=)
NM_004646.4(NPHS1):c.2286T>C (p.Thr762=) rs2146821015
NM_004646.4(NPHS1):c.2289C>G (p.Val763=) rs437168
NM_004646.4(NPHS1):c.2289del (p.Asp764fs) rs2146821009
NM_004646.4(NPHS1):c.2295C>G (p.Ala765=)
NM_004646.4(NPHS1):c.2295C>T (p.Ala765=) rs2146820981
NM_004646.4(NPHS1):c.2310G>A (p.Pro770=)
NM_004646.4(NPHS1):c.2310G>C (p.Pro770=) rs1390523402
NM_004646.4(NPHS1):c.2310G>T (p.Pro770=)
NM_004646.4(NPHS1):c.2324G>A (p.Trp775Ter) rs1973089176
NM_004646.4(NPHS1):c.2326del (p.Glu776fs)
NM_004646.4(NPHS1):c.2334+11A>G
NM_004646.4(NPHS1):c.2334+7A>T rs2146820906
NM_004646.4(NPHS1):c.2334+9C>A rs756158801
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2335-11T>C
NM_004646.4(NPHS1):c.2335-13C>T
NM_004646.4(NPHS1):c.2335-17G>A
NM_004646.4(NPHS1):c.2335-20C>G
NM_004646.4(NPHS1):c.2335-20C>T
NM_004646.4(NPHS1):c.2335-2A>G rs2146819931
NM_004646.4(NPHS1):c.2335-6C>T
NM_004646.4(NPHS1):c.2335-7C>T rs2146819942
NM_004646.4(NPHS1):c.2335-8G>A rs1244988738
NM_004646.4(NPHS1):c.2336G>T (p.Gly779Val) rs2146819926
NM_004646.4(NPHS1):c.2349G>A (p.Glu783=) rs1599841864
NM_004646.4(NPHS1):c.2353C>T (p.Gln785Ter)
NM_004646.4(NPHS1):c.2355G>A (p.Gln785=) rs1363949193
NM_004646.4(NPHS1):c.2359C>T (p.Leu787=) rs2146819875
NM_004646.4(NPHS1):c.2364T>C (p.Asp788=) rs1430828506
NM_004646.4(NPHS1):c.2367C>T (p.Asp789=)
NM_004646.4(NPHS1):c.2367dup (p.Met790fs)
NM_004646.4(NPHS1):c.2383A>C (p.Arg795=)
NM_004646.4(NPHS1):c.2386G>T (p.Gly796Ter)
NM_004646.4(NPHS1):c.2387G>A (p.Gly796Glu) rs2146819844
NM_004646.4(NPHS1):c.2387del (p.Gly796fs) rs1568453378
NM_004646.4(NPHS1):c.2397G>A (p.Gly799=)
NM_004646.4(NPHS1):c.2399G>A (p.Arg800His)
NM_004646.4(NPHS1):c.2404C>A (p.Arg802=) rs386833911
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
NM_004646.4(NPHS1):c.2416G>A (p.Ala806Thr) rs2146819794
NM_004646.4(NPHS1):c.2422C>T (p.Leu808=) rs1973074753
NM_004646.4(NPHS1):c.2427C>A (p.Ala809=) rs2146819780
NM_004646.4(NPHS1):c.2442C>T (p.Tyr814=)
NM_004646.4(NPHS1):c.2443C>T (p.Gln815Ter)
NM_004646.4(NPHS1):c.2448C>T (p.Cys816=)
NM_004646.4(NPHS1):c.2452G>A (p.Val818Met)
NM_004646.4(NPHS1):c.2479C>A (p.Arg827=)
NM_004646.4(NPHS1):c.2490C>T (p.Leu830=)
NM_004646.4(NPHS1):c.2492G>A (p.Arg831His)
NM_004646.4(NPHS1):c.2497G>T (p.Val833Phe)
NM_004646.4(NPHS1):c.2503A>C (p.Arg835=)
NM_004646.4(NPHS1):c.2506+10A>C
NM_004646.4(NPHS1):c.2506+12C>T
NM_004646.4(NPHS1):c.2506+13C>A
NM_004646.4(NPHS1):c.2506+15A>G
NM_004646.4(NPHS1):c.2506+16A>C
NM_004646.4(NPHS1):c.2506+17C>T
NM_004646.4(NPHS1):c.2506+18_2506+19del
NM_004646.4(NPHS1):c.2506+19C>G
NM_004646.4(NPHS1):c.2506+1G>A rs1973073001
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2506+7A>G rs2146819639
NM_004646.4(NPHS1):c.2506+8T>C
NM_004646.4(NPHS1):c.2507-11T>A
NM_004646.4(NPHS1):c.2507-13C>T rs536518140
NM_004646.4(NPHS1):c.2507-19A>T
NM_004646.4(NPHS1):c.2507-20G>A
NM_004646.4(NPHS1):c.2507-2A>G rs2146819530
NM_004646.4(NPHS1):c.2507-8C>A rs1156261469
NM_004646.4(NPHS1):c.2507-8C>G
NM_004646.4(NPHS1):c.2508T>C (p.Phe836=)
NM_004646.4(NPHS1):c.2511C>T (p.Ala837=) rs2146819514
NM_004646.4(NPHS1):c.2514C>T (p.Pro838=)
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)
NM_004646.4(NPHS1):c.2520G>A (p.Val840=) rs774650580
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
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.2541T>A (p.Thr847=) rs547171635
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
NM_004646.4(NPHS1):c.2544G>A (p.Lys848=) rs1216859164
NM_004646.4(NPHS1):c.2556T>G (p.Ala852=)
NM_004646.4(NPHS1):c.2565C>T (p.Ser855=)
NM_004646.4(NPHS1):c.2586C>T (p.His862=)
NM_004646.4(NPHS1):c.2589C>T (p.Cys863=)
NM_004646.4(NPHS1):c.2597G>A (p.Arg866Gln)
NM_004646.4(NPHS1):c.2601T>G (p.Gly867=) rs2146819414
NM_004646.4(NPHS1):c.2604C>G (p.Val868=)
NM_004646.4(NPHS1):c.2604C>T (p.Val868=) rs766776753
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2610C>T (p.Asn870=) rs2146819400
NM_004646.4(NPHS1):c.2618del (p.Phe873fs)
NM_004646.4(NPHS1):c.2633dup (p.Asn878fs) rs1315968443
NM_004646.4(NPHS1):c.2635G>A (p.Gly879Arg)
NM_004646.4(NPHS1):c.2637G>A (p.Gly879=)
NM_004646.4(NPHS1):c.2637G>T (p.Gly879=) rs1431580668
NM_004646.4(NPHS1):c.2651T>C (p.Leu884Pro)
NM_004646.4(NPHS1):c.2658T>C (p.Asp886=)
NM_004646.4(NPHS1):c.2661C>G (p.Pro887=)
NM_004646.4(NPHS1):c.2663+16G>A
NM_004646.4(NPHS1):c.2663+2T>A rs762392183
NM_004646.4(NPHS1):c.2663+9A>G
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2663_2663+9del rs771953692
NM_004646.4(NPHS1):c.2664-13_2664-10dup
NM_004646.4(NPHS1):c.2664-16C>A
NM_004646.4(NPHS1):c.2664-16C>T
NM_004646.4(NPHS1):c.2664-17C>T
NM_004646.4(NPHS1):c.2664-17_2664-14dup
NM_004646.4(NPHS1):c.2664-18G>T
NM_004646.4(NPHS1):c.2664-4C>T
NM_004646.4(NPHS1):c.2664-5T>C
NM_004646.4(NPHS1):c.2667C>A (p.Tyr889Ter)
NM_004646.4(NPHS1):c.2667C>T (p.Tyr889=) rs1384985862
NM_004646.4(NPHS1):c.2670G>C (p.Thr890=) rs759846180
NM_004646.4(NPHS1):c.2679A>G (p.Thr893=) rs1568453068
NM_004646.4(NPHS1):c.2685C>T (p.His895=)
NM_004646.4(NPHS1):c.2686C>T (p.Gln896Ter) rs771594710
NM_004646.4(NPHS1):c.2686del (p.Gln896fs)
NM_004646.4(NPHS1):c.2688G>A (p.Gln896=)
NM_004646.4(NPHS1):c.2703C>T (p.Ser901=) rs2146819073
NM_004646.4(NPHS1):c.2712G>A (p.Leu904=) rs2146819058
NM_004646.4(NPHS1):c.2727G>T (p.Val909=)
NM_004646.4(NPHS1):c.2734G>A (p.Ala912Thr)
NM_004646.4(NPHS1):c.2746G>A (p.Ala916Thr)
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.275-10C>T rs2146832116
NM_004646.4(NPHS1):c.275-12C>T
NM_004646.4(NPHS1):c.275-14G>A
NM_004646.4(NPHS1):c.275-1G>C rs144118716
NM_004646.4(NPHS1):c.275-5del
NM_004646.4(NPHS1):c.2754C>T (p.Phe918=)
NM_004646.4(NPHS1):c.2757A>G (p.Thr919=) rs1973059395
NM_004646.4(NPHS1):c.2763A>G (p.Thr921=) rs2146818962
NM_004646.4(NPHS1):c.2766C>T (p.Ala922=)
NM_004646.4(NPHS1):c.276T>G (p.Gly92=)
NM_004646.4(NPHS1):c.2772C>T (p.Asn924=) rs768317046
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.2784G>A (p.Ser928=)
NM_004646.4(NPHS1):c.2799T>C (p.Ile933=) rs2146818919
NM_004646.4(NPHS1):c.2805del (p.Val936fs)
NM_004646.4(NPHS1):c.2808C>T (p.Val936=) rs2146818913
NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)
NM_004646.4(NPHS1):c.2815+14G>T
NM_004646.4(NPHS1):c.2815+18G>A
NM_004646.4(NPHS1):c.2815+19G>A
NM_004646.4(NPHS1):c.2815+1G>C rs2146818902
NM_004646.4(NPHS1):c.2815+8G>T
NM_004646.4(NPHS1):c.2815+9G>A
NM_004646.4(NPHS1):c.2816-15T>C
NM_004646.4(NPHS1):c.2816-18C>G
NM_004646.4(NPHS1):c.2816-2A>G
NM_004646.4(NPHS1):c.2816-8C>T
NM_004646.4(NPHS1):c.2817C>T (p.Ser939=)
NM_004646.4(NPHS1):c.2819G>A (p.Arg940His)
NM_004646.4(NPHS1):c.2824del (p.Asp942fs)
NM_004646.4(NPHS1):c.2826C>T (p.Asp942=) rs748286841
NM_004646.4(NPHS1):c.2832A>C (p.Pro944=) rs1599840207
NM_004646.4(NPHS1):c.2838A>T (p.Gly946=)
NM_004646.4(NPHS1):c.2840del (p.Gly946_Leu947insTer)
NM_004646.4(NPHS1):c.2841A>G (p.Leu947=) rs2146816640
NM_004646.4(NPHS1):c.2847_2853del (p.Val949_Val950insTer) rs886042517
NM_004646.4(NPHS1):c.2850G>T (p.Val950=)
NM_004646.4(NPHS1):c.2853T>C (p.Ser951=)
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val) rs386833929
NM_004646.4(NPHS1):c.286C>T (p.Leu96=) rs386833929
NM_004646.4(NPHS1):c.2874G>A (p.Gly958=)
NM_004646.4(NPHS1):c.287T>A (p.Leu96Gln)
NM_004646.4(NPHS1):c.2880G>A (p.Glu960=) rs764842890
NM_004646.4(NPHS1):c.2892C>A (p.Gly964=)
NM_004646.4(NPHS1):c.2892C>G (p.Gly964=) rs770871471
NM_004646.4(NPHS1):c.2892C>T (p.Gly964=) rs770871471
NM_004646.4(NPHS1):c.2898T>C (p.Asp966=)
NM_004646.4(NPHS1):c.2899G>T (p.Gly967Trp) rs1973023933
NM_004646.4(NPHS1):c.2901G>A (p.Gly967=)
NM_004646.4(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.4(NPHS1):c.2916G>A (p.Arg972=) rs374762054
NM_004646.4(NPHS1):c.2919C>T (p.Phe973=)
NM_004646.4(NPHS1):c.2927+13C>T
NM_004646.4(NPHS1):c.2927+14G>T
NM_004646.4(NPHS1):c.2927+1G>A rs386833930
NM_004646.4(NPHS1):c.2927+1G>C
NM_004646.4(NPHS1):c.2927+1G>T
NM_004646.4(NPHS1):c.2927+2T>C
NM_004646.4(NPHS1):c.2928-11C>G
NM_004646.4(NPHS1):c.2928-13C>T
NM_004646.4(NPHS1):c.2928-15C>G
NM_004646.4(NPHS1):c.2928-16T>A
NM_004646.4(NPHS1):c.2928-16T>C
NM_004646.4(NPHS1):c.2928-16dup
NM_004646.4(NPHS1):c.2928-17A>G
NM_004646.4(NPHS1):c.2928-18T>C
NM_004646.4(NPHS1):c.2928-4G>T
NM_004646.4(NPHS1):c.2928-7_2928-5del
NM_004646.4(NPHS1):c.2928-8T>A rs2146816368
NM_004646.4(NPHS1):c.2931T>C (p.Tyr977=) rs2146816347
NM_004646.4(NPHS1):c.2937C>T (p.Ala979=) rs1973021270
NM_004646.4(NPHS1):c.2940G>T (p.Leu980=)
NM_004646.4(NPHS1):c.2943G>A (p.Gly981=) rs1219739033
NM_004646.4(NPHS1):c.2944dup (p.Thr982fs) rs386833931
NM_004646.4(NPHS1):c.2958C>T (p.His986=)
NM_004646.4(NPHS1):c.295G>A (p.Glu99Lys)
NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter)
NM_004646.4(NPHS1):c.2973A>G (p.Val991=)
NM_004646.4(NPHS1):c.2976A>C (p.Pro992=)
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.3021A>G (p.Thr1007=) rs2146816213
NM_004646.4(NPHS1):c.3025T>C (p.Tyr1009His)
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.3033C>G (p.Val1011=) rs2146816192
NM_004646.4(NPHS1):c.3039G>C (p.Leu1013=) rs747435857
NM_004646.4(NPHS1):c.3039G>T (p.Leu1013=) rs747435857
NM_004646.4(NPHS1):c.3048T>C (p.Ser1016=) rs374988709
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.306C>T (p.Asp102=) rs1973253440
NM_004646.4(NPHS1):c.3072G>A (p.Leu1024=) rs2146816137
NM_004646.4(NPHS1):c.3090G>A (p.Gln1030=) rs1379636343
NM_004646.4(NPHS1):c.3093T>G (p.Leu1031=)
NM_004646.4(NPHS1):c.3096C>T (p.Pro1032=) rs1973018433
NM_004646.4(NPHS1):c.3099C>T (p.Ile1033=)
NM_004646.4(NPHS1):c.3105C>A (p.Thr1035=) rs1973018316
NM_004646.4(NPHS1):c.3109+13G>A
NM_004646.4(NPHS1):c.3109+7A>G rs2146816072
NM_004646.4(NPHS1):c.3109+8G>A rs1599839952
NM_004646.4(NPHS1):c.3109+9G>A rs2146816068
NM_004646.4(NPHS1):c.3110-13A>C
NM_004646.4(NPHS1):c.3110-13A>G
NM_004646.4(NPHS1):c.3110-20T>C
NM_004646.4(NPHS1):c.3110-2A>G rs2146812253
NM_004646.4(NPHS1):c.3110-3del rs1257680200
NM_004646.4(NPHS1):c.3110-3dup rs1257680200
NM_004646.4(NPHS1):c.3110-5C>A
NM_004646.4(NPHS1):c.3110-7C>A
NM_004646.4(NPHS1):c.3110-7C>T
NM_004646.4(NPHS1):c.3126T>C (p.Ser1042=)
NM_004646.4(NPHS1):c.3128_3132del (p.Gly1043fs) rs2146812210
NM_004646.4(NPHS1):c.3129A>G (p.Gly1043=) rs2146812215
NM_004646.4(NPHS1):c.312C>T (p.Ser104=) rs114540811
NM_004646.4(NPHS1):c.3135T>C (p.Pro1045=) rs2146812206
NM_004646.4(NPHS1):c.3135_3136del (p.Glu1046fs)
NM_004646.4(NPHS1):c.3147G>C (p.Leu1049=) rs553532165
NM_004646.4(NPHS1):c.314A>C (p.Asp105Ala)
NM_004646.4(NPHS1):c.3150C>G (p.Pro1050=)
NM_004646.4(NPHS1):c.315T>C (p.Asp105=)
NM_004646.4(NPHS1):c.3162T>C (p.Pro1054=) rs1599838215
NM_004646.4(NPHS1):c.3166+13T>C
NM_004646.4(NPHS1):c.3166+14C>G
NM_004646.4(NPHS1):c.3166+18T>C
NM_004646.4(NPHS1):c.3166+18T>G
NM_004646.4(NPHS1):c.3166+19G>T
NM_004646.4(NPHS1):c.3166+8C>T rs2146812175
NM_004646.4(NPHS1):c.3167-10C>T
NM_004646.4(NPHS1):c.3167-17G>A
NM_004646.4(NPHS1):c.3167-18G>T
NM_004646.4(NPHS1):c.3167-19G>T
NM_004646.4(NPHS1):c.3167-4C>T
NM_004646.4(NPHS1):c.3167-5C>T
NM_004646.4(NPHS1):c.3167-8A>G
NM_004646.4(NPHS1):c.3167-9C>T rs2146808189
NM_004646.4(NPHS1):c.3171C>T (p.Pro1057=)
NM_004646.4(NPHS1):c.3177G>A (p.Gly1059=)
NM_004646.4(NPHS1):c.3177G>C (p.Gly1059=)
NM_004646.4(NPHS1):c.3177G>T (p.Gly1059=)
NM_004646.4(NPHS1):c.3186G>T (p.Leu1062=) rs1972888608
NM_004646.4(NPHS1):c.3189G>A (p.Leu1063=)
NM_004646.4(NPHS1):c.3196C>T (p.Leu1066=) rs2146808114
NM_004646.4(NPHS1):c.3202G>A (p.Ala1068Thr)
NM_004646.4(NPHS1):c.3204T>C (p.Ala1068=) rs1458214272
NM_004646.4(NPHS1):c.3207T>C (p.Leu1069=)
NM_004646.4(NPHS1):c.3210G>A (p.Gly1070=) rs2146808074
NM_004646.4(NPHS1):c.3213G>A (p.Gly1071=)
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs) rs1420623853
NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile) rs1972887955
NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=) rs1003131306
NM_004646.4(NPHS1):c.322G>T (p.Glu108Ter) rs2146831931
NM_004646.4(NPHS1):c.3237C>T (p.Ser1079=) rs1334184549
NM_004646.4(NPHS1):c.3238T>G (p.Cys1080Gly)
NM_004646.4(NPHS1):c.3244G>A (p.Gly1082Arg)
NM_004646.4(NPHS1):c.3245G>T (p.Gly1082Val) rs1440052631
NM_004646.4(NPHS1):c.3246G>A (p.Gly1082=) rs774467180
NM_004646.4(NPHS1):c.3246G>C (p.Gly1082=)
NM_004646.4(NPHS1):c.3249G>A (p.Gly1083=)
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=) rs779723501
NM_004646.4(NPHS1):c.3249G>T (p.Gly1083=) rs779723501
NM_004646.4(NPHS1):c.3250G>T (p.Val1084Phe)
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3255C>G (p.Leu1085=) rs2146807978
NM_004646.4(NPHS1):c.3258del (p.Trp1086fs) rs2146807976
NM_004646.4(NPHS1):c.3259C>T (p.Gln1087Ter)
NM_004646.4(NPHS1):c.3264G>A (p.Arg1088=)
NM_004646.4(NPHS1):c.3267A>G (p.Arg1089=) rs1240080951
NM_004646.4(NPHS1):c.3276T>C (p.Arg1092=) rs2146807931
NM_004646.4(NPHS1):c.3286+10G>A
NM_004646.4(NPHS1):c.3286+12C>G
NM_004646.4(NPHS1):c.3286+14C>G
NM_004646.4(NPHS1):c.3286+17C>T
NM_004646.4(NPHS1):c.3286+18C>T
NM_004646.4(NPHS1):c.3286+8G>A
NM_004646.4(NPHS1):c.3287-11G>A rs1175331248
NM_004646.4(NPHS1):c.3287-13C>T
NM_004646.4(NPHS1):c.3287-18T>C
NM_004646.4(NPHS1):c.3287-2A>G rs758432802
NM_004646.4(NPHS1):c.3287-6C>T
NM_004646.4(NPHS1):c.3287-7C>T
NM_004646.4(NPHS1):c.3294A>G (p.Ser1098=) rs1568449216
NM_004646.4(NPHS1):c.3303A>G (p.Thr1101=)
NM_004646.4(NPHS1):c.3306G>A (p.Glu1102=)
NM_004646.4(NPHS1):c.330G>A (p.Glu110=) rs1599847610
NM_004646.4(NPHS1):c.3311+13A>C
NM_004646.4(NPHS1):c.3311+19C>T
NM_004646.4(NPHS1):c.3311+9G>A
NM_004646.4(NPHS1):c.3312-15C>T
NM_004646.4(NPHS1):c.3312-16A>G
NM_004646.4(NPHS1):c.3312-17C>A
NM_004646.4(NPHS1):c.3312-17C>T
NM_004646.4(NPHS1):c.3312-18A>G
NM_004646.4(NPHS1):c.3312-19C>G
NM_004646.4(NPHS1):c.3312-19C>T
NM_004646.4(NPHS1):c.3312-19del
NM_004646.4(NPHS1):c.3312-1G>C
NM_004646.4(NPHS1):c.3312-20C>A
NM_004646.4(NPHS1):c.3315G>T (p.Ser1105=) rs2071327
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs) rs1972879328
NM_004646.4(NPHS1):c.3342T>C (p.Tyr1114=) rs1599835605
NM_004646.4(NPHS1):c.3343G>T (p.Glu1115Ter) rs1972879158
NM_004646.4(NPHS1):c.3360A>T (p.Thr1120=) rs1247818296
NM_004646.4(NPHS1):c.3364G>A (p.Glu1122Lys) rs548792892
NM_004646.4(NPHS1):c.3364G>T (p.Glu1122Ter)
NM_004646.4(NPHS1):c.3366G>A (p.Glu1122=)
NM_004646.4(NPHS1):c.3367C>G (p.Arg1123Gly)
NM_004646.4(NPHS1):c.3372C>T (p.Asp1124=) rs2146807444
NM_004646.4(NPHS1):c.3387+10G>A rs2146807417
NM_004646.4(NPHS1):c.3387+19G>C
NM_004646.4(NPHS1):c.3387+20G>C
NM_004646.4(NPHS1):c.3387+2T>C rs2146807429
NM_004646.4(NPHS1):c.3387+7G>T rs1972877803
NM_004646.4(NPHS1):c.3387+8G>C rs2146807423
NM_004646.4(NPHS1):c.3387+9G>A rs1381677154
NM_004646.4(NPHS1):c.3387+9G>C rs1381677154
NM_004646.4(NPHS1):c.3388-15G>T
NM_004646.4(NPHS1):c.3388-20_3388-17del
NM_004646.4(NPHS1):c.3388-9G>T
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3420C>T (p.Arg1140=)
NM_004646.4(NPHS1):c.3423C>T (p.Ser1141=) rs2146807251
NM_004646.4(NPHS1):c.3424C>T (p.Leu1142=)
NM_004646.4(NPHS1):c.3426G>C (p.Leu1142=) rs2146807247
NM_004646.4(NPHS1):c.3429G>A (p.Arg1143=) rs2146807240
NM_004646.4(NPHS1):c.3438C>T (p.Ser1146=) rs1324557507
NM_004646.4(NPHS1):c.3439C>A (p.Pro1147Thr)
NM_004646.4(NPHS1):c.3441C>T (p.Pro1147=) rs1173725972
NM_004646.4(NPHS1):c.3444G>A (p.Gln1148=) rs2146807218
NM_004646.4(NPHS1):c.3450C>A (p.Pro1150=)
NM_004646.4(NPHS1):c.3456G>A (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.3464A>G (p.Glu1155Gly)
NM_004646.4(NPHS1):c.3474T>C (p.Tyr1158=)
NM_004646.4(NPHS1):c.3481+13C>A
NM_004646.4(NPHS1):c.3481+16G>A
NM_004646.4(NPHS1):c.3481+2T>C
NM_004646.4(NPHS1):c.3481+7T>G rs2146807165
NM_004646.4(NPHS1):c.3481+9G>A rs1458297174
NM_004646.4(NPHS1):c.3482-10C>A
NM_004646.4(NPHS1):c.3482-14C>T
NM_004646.4(NPHS1):c.3482-6C>T rs2146807059
NM_004646.4(NPHS1):c.3482-7A>C rs73928326
NM_004646.4(NPHS1):c.3486C>T (p.Phe1162=) rs1280850592
NM_004646.4(NPHS1):c.3504T>C (p.Asp1168=)
NM_004646.4(NPHS1):c.3522C>T (p.His1174=)
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs) rs1420307327
NM_004646.4(NPHS1):c.3534G>A (p.Glu1178=)
NM_004646.4(NPHS1):c.3540A>G (p.Glu1180=)
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3544_3545dup (p.Tyr1183fs)
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.3552C>G (p.Pro1184=) rs929540764
NM_004646.4(NPHS1):c.3552C>T (p.Pro1184=)
NM_004646.4(NPHS1):c.3554C>T (p.Pro1185Leu)
NM_004646.4(NPHS1):c.3582T>C (p.Asp1194=) rs912300575
NM_004646.4(NPHS1):c.358C>A (p.Pro120Thr)
NM_004646.4(NPHS1):c.3594+13G>C
NM_004646.4(NPHS1):c.3594+14C>T
NM_004646.4(NPHS1):c.3594+15A>G
NM_004646.4(NPHS1):c.3594+15_3594+27del
NM_004646.4(NPHS1):c.3594+17C>G
NM_004646.4(NPHS1):c.3594+9C>A rs766396905
NM_004646.4(NPHS1):c.3595-14T>C
NM_004646.4(NPHS1):c.3595-4T>A rs772120895
NM_004646.4(NPHS1):c.3595-5G>A rs1218815463
NM_004646.4(NPHS1):c.3595-7C>T
NM_004646.4(NPHS1):c.3595-8C>T rs2146803362
NM_004646.4(NPHS1):c.360C>G (p.Pro120=) rs371652869
NM_004646.4(NPHS1):c.360C>T (p.Pro120=) rs371652869
NM_004646.4(NPHS1):c.3611A>G (p.His1204Arg)
NM_004646.4(NPHS1):c.3630T>C (p.Tyr1210=) rs1568447872
NM_004646.4(NPHS1):c.3639A>T (p.Pro1213=)
NM_004646.4(NPHS1):c.3643G>A (p.Gly1215Arg) rs901965982
NM_004646.4(NPHS1):c.3645A>G (p.Gly1215=)
NM_004646.4(NPHS1):c.3651T>C (p.Tyr1217=)
NM_004646.4(NPHS1):c.3660G>A (p.Val1220=) rs1972803398
NM_004646.4(NPHS1):c.3663C>A (p.Ala1221=) rs760160384
NM_004646.4(NPHS1):c.3663C>T (p.Ala1221=) rs760160384
NM_004646.4(NPHS1):c.366C>G (p.Leu122=) rs770394555
NM_004646.4(NPHS1):c.3670T>C (p.Leu1224=)
NM_004646.4(NPHS1):c.3678T>C (p.Thr1226=)
NM_004646.4(NPHS1):c.3679C>G (p.Leu1227Val)
NM_004646.4(NPHS1):c.3693T>C (p.Ser1231=) rs2146803225
NM_004646.4(NPHS1):c.3699C>T (p.Pro1233=) rs1972802770
NM_004646.4(NPHS1):c.369G>A (p.Val123=) rs2146831795
NM_004646.4(NPHS1):c.3708G>A (p.Leu1236=)
NM_004646.4(NPHS1):c.3714A>C (p.Gly1238=)
NM_004646.4(NPHS1):c.3714A>G (p.Gly1238=)
NM_004646.4(NPHS1):c.3720G>A (p.Leu1240=)
NM_004646.4(NPHS1):c.3722T>C (p.Val1241Ala)
NM_004646.4(NPHS1):c.3723G>A (p.Val1241=) rs753103133
NM_004646.4(NPHS1):c.375C>T (p.Pro125=) rs1973249177
NM_004646.4(NPHS1):c.384C>T (p.Ile128=)
NM_004646.4(NPHS1):c.387C>T (p.Leu129=) rs1973248518
NM_004646.4(NPHS1):c.390C>T (p.Ser130=)
NM_004646.4(NPHS1):c.396G>C (p.Leu132=) rs567149548
NM_004646.4(NPHS1):c.397+14A>G
NM_004646.4(NPHS1):c.397+15C>G
NM_004646.4(NPHS1):c.397+16G>A
NM_004646.4(NPHS1):c.397+1G>C
NM_004646.4(NPHS1):c.397+2T>A rs1054950770
NM_004646.4(NPHS1):c.397+7G>A rs1266621460
NM_004646.4(NPHS1):c.397+9G>A rs2146831703
NM_004646.4(NPHS1):c.398-11T>A
NM_004646.4(NPHS1):c.398-15C>T
NM_004646.4(NPHS1):c.398-16A>C
NM_004646.4(NPHS1):c.398-19_398-13del
NM_004646.4(NPHS1):c.398-20C>T
NM_004646.4(NPHS1):c.398-2A>G rs1555763974
NM_004646.4(NPHS1):c.398-5A>C
NM_004646.4(NPHS1):c.398-5A>T
NM_004646.4(NPHS1):c.398-8C>G
NM_004646.4(NPHS1):c.399T>G (p.Val133=) rs2146831323
NM_004646.4(NPHS1):c.402T>A (p.Pro134=)
NM_004646.4(NPHS1):c.404C>A (p.Pro135His) rs2146831313
NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg) rs561948671
NM_004646.4(NPHS1):c.408G>A (p.Lys136=) rs775881798
NM_004646.4(NPHS1):c.415C>T (p.Leu139=) rs2146831286
NM_004646.4(NPHS1):c.422C>A (p.Thr141Asn)
NM_004646.4(NPHS1):c.429G>A (p.Glu143=) rs1173468417
NM_004646.4(NPHS1):c.432A>G (p.Ala144=)
NM_004646.4(NPHS1):c.447C>G (p.Thr149=)
NM_004646.4(NPHS1):c.447C>T (p.Thr149=)
NM_004646.4(NPHS1):c.450G>A (p.Trp150Ter) rs2146831207
NM_004646.4(NPHS1):c.451G>A (p.Val151Ile)
NM_004646.4(NPHS1):c.456T>C (p.Ala152=) rs2146831188
NM_004646.4(NPHS1):c.459del (p.Gln154fs) rs2146831183
NM_004646.4(NPHS1):c.462G>A (p.Gln154=) rs757847147
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.468C>T (p.Tyr156=)
NM_004646.4(NPHS1):c.471G>A (p.Val157=) rs1238185860
NM_004646.4(NPHS1):c.471G>T (p.Val157=) rs1238185860
NM_004646.4(NPHS1):c.479G>A (p.Cys160Tyr) rs386833944
NM_004646.4(NPHS1):c.489G>A (p.Gly163=)
NM_004646.4(NPHS1):c.501A>G (p.Pro167=)
NM_004646.4(NPHS1):c.504A>T (p.Ala168=)
NM_004646.4(NPHS1):c.507T>C (p.Pro169=) rs2146831053
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.516C>G (p.Thr172=)
NM_004646.4(NPHS1):c.516C>T (p.Thr172=) rs2146831013
NM_004646.4(NPHS1):c.516del (p.Ile173fs) rs386833948
NM_004646.4(NPHS1):c.519T>C (p.Ile173=)
NM_004646.4(NPHS1):c.523C>T (p.Leu175=) rs2146830991
NM_004646.4(NPHS1):c.526+13G>C
NM_004646.4(NPHS1):c.526+18G>A
NM_004646.4(NPHS1):c.526+1G>C rs371515262
NM_004646.4(NPHS1):c.526+20G>T
NM_004646.4(NPHS1):c.527-17C>T
NM_004646.4(NPHS1):c.527-20A>G
NM_004646.4(NPHS1):c.527-4C>G
NM_004646.4(NPHS1):c.527-5C>T rs2146830135
NM_004646.4(NPHS1):c.527-6C>T
NM_004646.4(NPHS1):c.527-7C>T rs762003783
NM_004646.4(NPHS1):c.527-9T>C
NM_004646.4(NPHS1):c.528T>G (p.Ser176Arg)
NM_004646.4(NPHS1):c.545A>C (p.Asp182Ala) rs2146830080
NM_004646.4(NPHS1):c.555A>T (p.Ala185=) rs749618977
NM_004646.4(NPHS1):c.565G>A (p.Glu189Lys)
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.570C>T (p.Gly190=) rs1475015789
NM_004646.4(NPHS1):c.573C>T (p.Ser191=)
NM_004646.4(NPHS1):c.593_594del (p.Val198fs)
NM_004646.4(NPHS1):c.600C>T (p.Ala200=) rs2146829977
NM_004646.4(NPHS1):c.608+19C>T rs1214520037
NM_004646.4(NPHS1):c.608+1G>T rs2146829967
NM_004646.4(NPHS1):c.608+20C>T
NM_004646.4(NPHS1):c.609-10C>A rs763508503
NM_004646.4(NPHS1):c.609-13C>T
NM_004646.4(NPHS1):c.609-14A>G
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.609-4C>T rs2146828593
NM_004646.4(NPHS1):c.609-7A>C rs2146828599
NM_004646.4(NPHS1):c.609-8C>T
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.620G>A (p.Arg207Gln)
NM_004646.4(NPHS1):c.633T>C (p.Asn211=)
NM_004646.4(NPHS1):c.639G>A (p.Gln213=)
NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.4(NPHS1):c.649del (p.Cys217fs) rs2146828473
NM_004646.4(NPHS1):c.665C>T (p.Pro222Leu)
NM_004646.4(NPHS1):c.666A>G (p.Pro222=) rs753266932
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004646.4(NPHS1):c.672G>A (p.Leu224=) rs2146828426
NM_004646.4(NPHS1):c.678C>A (p.Ala226=) rs2146828421
NM_004646.4(NPHS1):c.678C>T (p.Ala226=)
NM_004646.4(NPHS1):c.699del (p.Thr233_Val234insTer)
NM_004646.4(NPHS1):c.700G>A (p.Val234Met)
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.712+11A>T
NM_004646.4(NPHS1):c.712+1G>A
NM_004646.4(NPHS1):c.713-10T>C
NM_004646.4(NPHS1):c.713-16dup
NM_004646.4(NPHS1):c.713-18G>A
NM_004646.4(NPHS1):c.713-1G>A
NM_004646.4(NPHS1):c.713-2A>T rs2146828046
NM_004646.4(NPHS1):c.713-5C>T rs1973194842
NM_004646.4(NPHS1):c.713-6C>G rs762532138
NM_004646.4(NPHS1):c.713-7C>A
NM_004646.4(NPHS1):c.713-8del
NM_004646.4(NPHS1):c.722G>A (p.Gly241Glu)
NM_004646.4(NPHS1):c.726C>G (p.Pro242=)
NM_004646.4(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.4(NPHS1):c.735C>T (p.Ile245=) rs1475487583
NM_004646.4(NPHS1):c.736G>A (p.Glu246Lys)
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.744A>G (p.Pro248=) rs1191374913
NM_004646.4(NPHS1):c.756G>A (p.Glu252=) rs2146827978
NM_004646.4(NPHS1):c.759G>A (p.Gly253=)
NM_004646.4(NPHS1):c.762C>A (p.His254Gln)
NM_004646.4(NPHS1):c.762C>T (p.His254=) rs201234008
NM_004646.4(NPHS1):c.767G>A (p.Arg256Gln)
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.4(NPHS1):c.777G>A (p.Gln259=)
NM_004646.4(NPHS1):c.780C>T (p.Ser260=)
NM_004646.4(NPHS1):c.783G>A (p.Leu261=)
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter) rs779099247
NM_004646.4(NPHS1):c.795C>T (p.Cys265=) rs779099247
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
NM_004646.4(NPHS1):c.801C>A (p.Ala267=) rs2146827887
NM_004646.4(NPHS1):c.803del (p.Arg268fs)
NM_004646.4(NPHS1):c.808G>C (p.Gly270Arg)
NM_004646.4(NPHS1):c.816del (p.Pro272_Leu273insTer) rs1973192389
NM_004646.4(NPHS1):c.822C>T (p.Ala274=) rs1973192308
NM_004646.4(NPHS1):c.825A>G (p.Thr275=) rs767772136
NM_004646.4(NPHS1):c.827_833dup (p.Trp278fs)
NM_004646.4(NPHS1):c.840+13G>A
NM_004646.4(NPHS1):c.840+14C>T
NM_004646.4(NPHS1):c.840+15G>A
NM_004646.4(NPHS1):c.840+17G>A
NM_004646.4(NPHS1):c.840+17G>T
NM_004646.4(NPHS1):c.840+19A>G
NM_004646.4(NPHS1):c.840+7dup rs757668116
NM_004646.4(NPHS1):c.840+9A>C rs2146827813
NM_004646.4(NPHS1):c.841-12C>T
NM_004646.4(NPHS1):c.841-17C>A
NM_004646.4(NPHS1):c.841-17C>T
NM_004646.4(NPHS1):c.841-18G>T
NM_004646.4(NPHS1):c.841-6C>A
NM_004646.4(NPHS1):c.841-6C>T
NM_004646.4(NPHS1):c.841-9T>C
NM_004646.4(NPHS1):c.843T>C (p.Asn281=)
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)
NM_004646.4(NPHS1):c.851C>T (p.Pro284Leu)
NM_004646.4(NPHS1):c.852G>A (p.Pro284=) rs763233132
NM_004646.4(NPHS1):c.864G>C (p.Ala288=) rs183990039
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.4(NPHS1):c.877dup (p.His293fs)
NM_004646.4(NPHS1):c.894C>T (p.Ala298=)
NM_004646.4(NPHS1):c.900T>C (p.Ser300=) rs1973188882
NM_004646.4(NPHS1):c.903G>A (p.Val301=) rs767375615
NM_004646.4(NPHS1):c.921G>A (p.Arg307=)
NM_004646.4(NPHS1):c.928G>T (p.Asp310Tyr)
NM_004646.4(NPHS1):c.945C>G (p.Leu315=)
NM_004646.4(NPHS1):c.945C>T (p.Leu315=) rs770021432
NM_004646.4(NPHS1):c.951C>A (p.Cys317Ter)
NM_004646.4(NPHS1):c.984G>A (p.Gln328=) rs2146827509
NM_004646.4(NPHS1):c.991G>A (p.Gly331Ser)
NM_004646.4(NPHS1):c.999A>G (p.Thr333=)

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