NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
|
rs751369871
|
0.00007
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)
|
rs762396810
|
0.00003
|
NM_018075.5(ANO10):c.139+1G>T
|
rs777450156
|
0.00003
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00003
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_000414.4(HSD17B4):c.1333+1G>C
|
rs1369305726
|
0.00001
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
NM_016239.4(MYO15A):c.10491+2T>C
|
rs1390498839
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter)
|
rs140696201
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met)
|
rs1370869109
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_198428.3(BBS9):c.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)
|
rs1850531575
|
|
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)
|
rs28942108
|
|
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
|
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys)
|
rs2152235595
|
|
NM_001242882.2(NAXD):c.441+3A>G
|
rs2139640370
|
|
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln)
|
rs757788894
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys)
|
rs138510486
|
|
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs)
|
rs2032939837
|
|
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)
|
rs1434725624
|
|
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup)
|
rs777543926
|
|
NM_003383.5(VLDLR):c.1962+1G>A
|
rs2130801524
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter)
|
rs1895773215
|
|
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg)
|
rs2148319465
|
|
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro)
|
rs1947057220
|
|
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)
|
rs373301983
|
|
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
|
|
|
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
|
|
|
NM_014797.3(ZBTB24):c.1120+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016219.5(MAN1B1):c.917-2_921del
|
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_016239.4(MYO15A):c.5461del (p.Val1821fs)
|
rs764867438
|
|
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys)
|
rs1288328459
|
|
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs)
|
rs2046752611
|
|
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
|
|
|
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)
|
rs764123669
|
|
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe)
|
rs765026901
|
|
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)
|
rs2132954257
|
|
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
|
|
|
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)
|
rs772757667
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His)
|
rs2128141336
|
|
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
|
|
|
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
|
|
|
NM_138694.4(PKHD1):c.977-2A>G
|
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|