NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
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_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)
|
rs1451194842
|
0.00001
|
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_201548.5(CERKL):c.239-2A>G
|
rs776886395
|
0.00001
|
NM_000018.4(ACADVL):c.864del (p.Phe288fs)
|
rs1555528386
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)
|
rs886039869
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000283.4(PDE6B):c.1832+1G>T
|
rs370758397
|
|
NM_000458.4(HNF1B):c.544+3_544+6del
|
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)
|
rs121908849
|
|
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)
|
rs775283269
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
NM_014140.4(SMARCAL1):c.2427+1G>A
|
rs1559138455
|
|
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter)
|
rs12568913
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)
|
rs1553143741
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
|
rs1571616755
|
|
NM_206933.4(USH2A):c.409dup (p.Ser137fs)
|
rs1571805164
|
|