NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)
|
rs145146218
|
0.00070
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)
|
rs559626481
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
|
rs372606845
|
0.00002
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp)
|
rs202071781
|
0.00002
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000789.4(ACE):c.1709+5G>C
|
rs1198993903
|
0.00001
|
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)
|
rs1288346981
|
0.00001
|
NM_004183.4(BEST1):c.400C>G (p.Leu134Val)
|
rs753614067
|
0.00001
|
NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro)
|
rs776859868
|
0.00001
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val)
|
rs1574767962
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.158_159del (p.Ser53fs)
|
rs2063103741
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
NM_000092.5(COL4A4):c.3408del (p.Met1137fs)
|
rs1971618196
|
|
NM_000092.5(COL4A4):c.3593_3594del (p.Gly1198fs)
|
rs1968590611
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.995G>T (p.Gly332Val)
|
rs2060521579
|
|
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser)
|
rs1653042358
|
|
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)
|
rs759676430
|
|
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
|
|
|
NM_000276.4(OCRL):c.533del (p.Pro178fs)
|
rs1602782082
|
|
NM_000278.5(PAX2):c.388C>T (p.Pro130Ser)
|
rs1054215531
|
|
NM_000330.4(RS1):c.578C>A (p.Pro193His)
|
rs281865352
|
|
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)
|
rs878853002
|
|
NM_001002295.2(GATA3):c.1050+2T>A
|
rs1832899364
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001024630.4(RUNX2):c.770_771del (p.Met257fs)
|
rs1800492946
|
|
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs)
|
rs1667504255
|
|
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)
|
rs1451284628
|
|
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)
|
rs750710315
|
|
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)
|
rs1933979876
|
|
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs)
|
rs1933984291
|
|
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)
|
rs1933713383
|
|
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)
|
rs1672034468
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_002292.4(LAMB2):c.2898del (p.Ala967fs)
|
rs2045394381
|
|
NM_003361.4(UMOD):c.272_274del (p.Ser91del)
|
rs1965755740
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003361.4(UMOD):c.411C>G (p.Cys137Trp)
|
rs1197633531
|
|
NM_003647.3(DGKE):c.1A>T (p.Met1Leu)
|
rs1906465563
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004646.4(NPHS1):c.456del (p.Gln154fs)
|
rs1973238637
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004998.4(MYO1E):c.1567C>T (p.Arg523Trp)
|
rs781347673
|
|
NM_004998.4(MYO1E):c.3094_3097del (p.Thr1032fs)
|
rs2079386835
|
|
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs)
|
rs1694866812
|
|
NM_014625.4(NPHS2):c.550_551del (p.Met184fs)
|
rs1673967760
|
|
NM_014625.4(NPHS2):c.923C>T (p.Ala308Val)
|
rs1673255837
|
|
NM_015102.5(NPHP4):c.2327del (p.Pro776fs)
|
rs1643882944
|
|
NM_016341.4(PLCE1):c.4182_4201dup (p.Tyr1401fs)
|
rs2051495579
|
|
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)
|
rs769834604
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg)
|
rs281874670
|
|
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.1532del (p.Pro511fs)
|
rs2066528020
|
|
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu)
|
rs1569494378
|
|
NM_033380.3(COL4A5):c.2042-2A>C
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)
|
rs2066640120
|
|
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs)
|
rs2066736944
|
|
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)
|
rs104886199
|
|
NM_033380.3(COL4A5):c.276+2dup
|
rs2065934135
|
|
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs)
|
rs2068539903
|
|
NM_033380.3(COL4A5):c.438+1_438+3dup
|
rs2066064057
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
|
rs1806601043
|
|
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
|
rs1803878901
|
|