NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)
|
rs145623004
|
0.00133
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr)
|
rs185078412
|
0.00015
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys)
|
rs201924382
|
0.00013
|
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_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_005560.6(LAMA5):c.2239C>T (p.Arg747Trp)
|
rs370940497
|
0.00006
|
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)
|
rs190101048
|
0.00005
|
NM_005245.4(FAT1):c.857A>G (p.Asn286Ser)
|
rs201488687
|
0.00004
|
NM_005560.6(LAMA5):c.8842G>A (p.Gly2948Ser)
|
rs529211517
|
0.00004
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter)
|
rs749688361
|
0.00003
|
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)
|
rs773173317
|
0.00003
|
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val)
|
rs766482429
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)
|
rs797044992
|
0.00002
|
NM_182699.4(DDX53):c.24G>A (p.Trp8Ter)
|
rs1176788381
|
0.00002
|
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu)
|
rs745561217
|
0.00001
|
NM_002292.4(LAMB2):c.1731+1G>A
|
rs755787013
|
0.00001
|
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter)
|
rs376983109
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val)
|
rs369363545
|
0.00001
|
NM_005245.4(FAT1):c.4517G>A (p.Arg1506His)
|
rs570583897
|
0.00001
|
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)
|
rs119473038
|
0.00001
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
NM_014669.5(NUP93):c.2017C>T (p.Arg673Trp)
|
rs1166462755
|
0.00001
|
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met)
|
rs763791918
|
0.00001
|
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr)
|
rs2053446114
|
0.00001
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.863G>A (p.Trp288Ter)
|
rs2106431706
|
|
NM_000169.3(GLA):c.504A>C (p.Lys168Asn)
|
rs2147477422
|
|
NM_001029858.4(SLC35F1):c.878T>G (p.Met293Arg)
|
rs1304499333
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_001358921.2(COQ2):c.26dup (p.Ala10fs)
|
rs1198292264
|
|
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro)
|
rs140781106
|
|
NM_002204.4(ITGA3):c.2593del (p.Asp865fs)
|
rs2144304926
|
|
NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser)
|
rs776905329
|
|
NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter)
|
rs2107636063
|
|
NM_003647.3(DGKE):c.610del (p.Thr204fs)
|
rs147972030
|
|
NM_003901.4(SGPL1):c.1037G>T (p.Ser346Ile)
|
rs1131692256
|
|
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln)
|
rs769259446
|
|
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)
|
rs1591517912
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr)
|
rs1352354716
|
|
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr)
|
rs2146822238
|
|
NM_004646.4(NPHS1):c.2506+5G>T
|
rs762704370
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)
|
rs919999972
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys)
|
rs2140342702
|
|
NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter)
|
rs2140319931
|
|
NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly)
|
rs375998390
|
|
NM_005560.6(LAMA5):c.3002A>G (p.Glu1001Gly)
|
rs1601356283
|
|
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu)
|
rs1464796596
|
|
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter)
|
rs1694331040
|
|
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu)
|
rs2106050388
|
|
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr)
|
rs2106055226
|
|
NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs)
|
rs2125764106
|
|
NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr)
|
rs2125763683
|
|
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu)
|
rs2101887841
|
|
NM_014625.4(NPHS2):c.397del (p.Arg133fs)
|
rs1481262338
|
|
NM_014625.4(NPHS2):c.419del (p.Gly140fs)
|
rs749779208
|
|
NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr)
|
rs2125780619
|
|
NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del)
|
rs2125765369
|
|
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys)
|
rs757674160
|
|
NM_015419.4(MXRA5):c.204_205insT (p.Ala69fs)
|
rs2146928273
|
|
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro)
|
rs1553433412
|
|
NM_016341.4(PLCE1):c.1709del (p.Ser570fs)
|
rs2136320656
|
|
NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs)
|
rs2137512478
|
|
NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer)
|
rs2132855762
|
|
NM_016341.4(PLCE1):c.4506+2T>C
|
rs2133127123
|
|
NM_016341.4(PLCE1):c.4887del (p.Ala1630fs)
|
rs747229979
|
|
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs)
|
rs1589475328
|
|
NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu)
|
rs2133612592
|
|
NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del)
|
rs2133673643
|
|
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe)
|
rs1555331969
|
|
NM_018714.3(COG1):c.1070+5G>A
|
rs1568296260
|
|
NM_022489.4(INF2):c.532T>G (p.Phe178Val)
|
rs2140648131
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)
|
rs797044994
|
|
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)
|
rs104886210
|
|
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)
|
rs281874721
|
|