NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)
|
rs749341977
|
0.00006
|
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_004646.4(NPHS1):c.3481+1G>T
|
rs142883811
|
0.00003
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
|
rs753656470
|
0.00002
|
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)
|
rs137853042
|
0.00002
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)
|
rs386833953
|
0.00002
|
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)
|
rs763972372
|
0.00002
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
0.00001
|
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)
|
rs764181464
|
0.00001
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter)
|
rs140018064
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
NM_004646.4(NPHS1):c.534del (p.Thr179fs)
|
rs386833952
|
0.00001
|
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0
|
|
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
NM_004646.3(NPHS1):c.[1339G>A;2456A>T]
|
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)
|
rs142008044
|
|
NM_004646.4(NPHS1):c.1235del (p.Gly412fs)
|
rs1161720919
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)
|
rs386833881
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.1409del (p.Gly470fs)
|
|
|
NM_004646.4(NPHS1):c.1756A>G (p.Arg586Gly)
|
rs730880174
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)
|
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)
|
rs386833904
|
|
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)
|
rs386833906
|
|
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met)
|
rs1131692245
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)
|
rs386833914
|
|
NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)
|
rs772222126
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs)
|
rs1244884053
|
|
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)
|
rs386833919
|
|
NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg)
|
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
NM_004646.4(NPHS1):c.2608_2609dup (p.Asn870fs)
|
|
|
NM_004646.4(NPHS1):c.2633dup (p.Asn878fs)
|
rs1315968443
|
|
NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)
|
|
|
NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)
|
|
|
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)
|
rs762184939
|
|
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)
|
rs34124941
|
|
NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs)
|
rs1420623853
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3312-1G>C
|
|
|
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs)
|
rs1420307327
|
|
NM_004646.4(NPHS1):c.3595-2A>G
|
rs386833940
|
|
NM_004646.4(NPHS1):c.398-1G>A
|
rs386833942
|
|
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs)
|
rs1555764281
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)
|
rs386833944
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.527-2A>G
|
|
|
NM_004646.4(NPHS1):c.542_543del (p.Ile180_Ser181insTer)
|
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.609-2A>C
|
rs386833955
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004646.4(NPHS1):c.621del (p.Ser208fs)
|
rs2146828521
|
|
NM_004646.4(NPHS1):c.67del (p.Gln23fs)
|
|
|
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.793T>C (p.Cys265Arg)
|
rs267606917
|
|
NM_004646.4(NPHS1):c.840+1G>T
|
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
NM_004646.4(NPHS1):c.869del (p.Gly290fs)
|
rs2146827686
|
|
NM_004646.4(NPHS1):c.[2552C>T;2618_2620delinsCC]
|
|
|