NM_004646.4(NPHS1):c.3594+221G>A
|
rs460560
|
0.69380
|
NM_004646.4(NPHS1):c.3286+36C>T
|
rs466452
|
0.39360
|
NM_004646.4(NPHS1):c.3315G>A (p.Ser1105=)
|
rs2071327
|
0.31318
|
NM_004646.4(NPHS1):c.3481+45C>T
|
rs731934
|
0.31213
|
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys)
|
rs3814995
|
0.25613
|
NM_004646.4(NPHS1):c.609-302T>C
|
rs447783
|
0.16561
|
NM_004646.4(NPHS1):c.397+61A>G
|
rs412175
|
0.16511
|
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.3287-54C>T
|
rs113650287
|
0.09580
|
NM_004646.4(NPHS1):c.1320C>T (p.Pro440=)
|
rs392702
|
0.08969
|
NM_004646.4(NPHS1):c.1171-86C>T
|
rs417786
|
0.08961
|
NM_004646.4(NPHS1):c.2816-223del
|
rs11326003
|
0.08779
|
NM_004646.4(NPHS1):c.3595-9G>T
|
rs77309273
|
0.05118
|
NM_004646.4(NPHS1):c.2213-107C>T
|
rs7248157
|
0.04843
|
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.398-66T>C
|
rs8113675
|
0.03471
|
NM_004646.4(NPHS1):c.527-254C>G
|
rs73928329
|
0.03341
|
NM_004646.4(NPHS1):c.1012+68A>G
|
rs80321803
|
0.03178
|
NM_004646.4(NPHS1):c.840+26A>T
|
rs113205596
|
0.02816
|
NM_004646.4(NPHS1):c.1627+89A>G
|
rs112388097
|
0.02808
|
NM_004646.4(NPHS1):c.2815+290C>T
|
rs116200890
|
0.02669
|
NM_004646.4(NPHS1):c.*146T>C
|
rs73928316
|
0.02465
|
NM_004646.4(NPHS1):c.3595-36C>G
|
rs73928317
|
0.02458
|
NM_004646.4(NPHS1):c.398-62G>A
|
rs396178
|
0.02293
|
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)
|
rs34320609
|
0.01801
|
NM_004646.4(NPHS1):c.2927+24G>C
|
rs10426635
|
0.01442
|
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.2815+95C>T
|
rs16970691
|
0.00958
|
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)
|
rs113825926
|
0.00863
|
NM_004646.4(NPHS1):c.2816-187T>C
|
rs115621473
|
0.00856
|
NM_004646.4(NPHS1):c.1758-11C>G
|
rs145554982
|
0.00802
|
NM_004646.4(NPHS1):c.3594+104C>T
|
rs79919489
|
0.00783
|
NM_004646.4(NPHS1):c.3481+22A>T
|
rs78465446
|
0.00782
|
NM_004646.4(NPHS1):c.1012+72A>G
|
rs117418914
|
0.00663
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_004646.4(NPHS1):c.1441-310G>C
|
rs76104752
|
0.00556
|
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.1930+140A>G
|
rs188966501
|
0.00396
|
NM_004646.4(NPHS1):c.1110T>C (p.Val370=)
|
rs116459838
|
0.00394
|
NM_004646.4(NPHS1):c.3311+48G>A
|
rs113474483
|
0.00391
|
NM_004646.4(NPHS1):c.1931-92A>G
|
rs141521464
|
0.00389
|
NM_004646.4(NPHS1):c.2212+76C>T
|
rs79789115
|
0.00389
|
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.1931-236T>C
|
rs146196581
|
0.00387
|
NM_004646.4(NPHS1):c.608+124C>T
|
rs115022560
|
0.00384
|
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.1850A>G (p.His617Arg)
|
rs764058957
|
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.2054G>A (p.Gly685Asp)
|
rs1161340572
|
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.808G>T (p.Gly270Cys)
|
rs386833961
|
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.1022G>C (p.Ser341Thr)
|
rs976105039
|
|
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.1040G>A (p.Gly347Glu)
|
rs386833862
|
|
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.1592G>T (p.Gly531Val)
|
rs1281962144
|
|
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.1745_1749del (p.Lys582fs)
|
|
|
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.1790C>T (p.Ala597Val)
|
rs548304892
|
|
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.1873G>T (p.Ala625Ser)
|
rs1973122430
|
|
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.1931-33_1931-31del
|
rs58208015
|
|
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.2020C>A (p.Pro674Thr)
|
rs2146822238
|
|
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+1G>T
|
rs2146822164
|
|
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.2150A>G (p.Tyr717Cys)
|
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro)
|
rs760911714
|
|
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+10_2212+27dup
|
rs538463177
|
|
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.2213-99=
|
rs436842
|
|
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+192C>T
|
rs56117924
|
|
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.2346GGA[1] (p.Glu783del)
|
rs1568453391
|
|
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.2437G>A (p.Ala813Thr)
|
|
|
NM_004646.4(NPHS1):c.2442C>T (p.Tyr814=)
|
|
|
NM_004646.4(NPHS1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg)
|
rs1568453333
|
|
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.2588G>T (p.Cys863Phe)
|
rs1568453194
|
|
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.2758T>A (p.Cys920Ser)
|
rs1568453007
|
|
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.2931T>G (p.Tyr977Ter)
|
|
|
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.3024A>G (p.Arg1008=)
|
rs1131691606
|
|
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.3110-190C>T
|
|
|
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.3385A>C (p.Thr1129Pro)
|
rs786205518
|
|
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+4A>T
|
rs1057524695
|
|
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.444_452del (p.Thr149_Val151del)
|
rs1568457279
|
|
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.460del (p.Gln154fs)
|
rs1568457270
|
|
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.609-61C>T
|
rs2267588
|
|
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.673G>C (p.Glu225Gln)
|
|
|
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.791C>T (p.Pro264Leu)
|
|
|
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=)
|
|
|