NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys)
|
rs143458938
|
0.00053
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)
|
rs200559738
|
0.00037
|
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)
|
rs529894952
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr)
|
rs201268590
|
0.00031
|
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn)
|
rs34181302
|
0.00029
|
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)
|
rs200635860
|
0.00025
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
0.00022
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter)
|
rs578143841
|
0.00018
|
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)
|
rs753699011
|
0.00014
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)
|
rs144969324
|
0.00011
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)
|
rs200294385
|
0.00009
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)
|
rs376632767
|
0.00007
|
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln)
|
rs151096656
|
0.00007
|
NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys)
|
rs371250371
|
0.00005
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)
|
rs755371528
|
0.00004
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys)
|
rs546095187
|
0.00004
|
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His)
|
rs776453694
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)
|
rs199693280
|
0.00002
|
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter)
|
rs782783744
|
0.00002
|
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys)
|
rs565098671
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser)
|
rs768570882
|
0.00002
|
NM_018136.5(ASPM):c.2629+3A>G
|
rs758509567
|
0.00002
|
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu)
|
rs140364490
|
0.00002
|
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His)
|
rs147078785
|
0.00001
|
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)
|
rs746613906
|
0.00001
|
NM_012414.4(RAB3GAP2):c.511-7C>T
|
rs748684063
|
0.00001
|
NM_024580.6(EFL1):c.787C>G (p.Leu263Val)
|
rs751006899
|
0.00001
|
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp)
|
rs765063390
|
0.00001
|
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys)
|
rs367621359
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys)
|
rs1347911533
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro)
|
rs1186965957
|
0.00001
|
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn)
|
rs759839598
|
0.00001
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
|
|
|
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu)
|
rs573839835
|
|
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro)
|
rs782176754
|
|
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del)
|
rs1957277819
|
|
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg)
|
rs2145455455
|
|
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)
|
rs1064793791
|
|
NM_000271.5(NPC1):c.1312C>A (p.Gln438Lys)
|
|
|
NM_000271.5(NPC1):c.631+5G>A
|
|
|
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
|
|
|
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
|
|
|
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
|
|
|
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
|
|
|
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
|
|
|
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
|
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001083961.2(WDR62):c.3083-2A>T
|
|
|
NM_001083961.2(WDR62):c.3336-6C>G
|
|
|
NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln)
|
rs2145889410
|
|
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
|
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.2036+6T>G
|
rs2128037867
|
|
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
|
rs529407899
|
|
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
|
|
|
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
|
|
|
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
|
|
|
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
|
|
|
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met)
|
rs758884514
|
|
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His)
|
rs200730376
|
|
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
|
|
|
NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys)
|
|
|
NM_001206999.2(CIT):c.731C>T (p.Ala244Val)
|
|
|
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
|
rs753906203
|
|
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
|
|
|
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
|
|
|
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
|
|
|
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
|
|
|
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
|
|
|
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
|
|
|
NM_001378454.1(ALMS1):c.12363-5C>G
|
rs774448248
|
|
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
|
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr)
|
rs587780274
|
|
NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)
|
|
|
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
|
|
|
NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)
|
|
|
NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)
|
|
|
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys)
|
rs2146338775
|
|
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys)
|
rs1465371108
|
|
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
|
|
|
NM_003573.2(LTBP4):c.76-2A>G
|
|
|
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
|
|
|
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)
|
|
|
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
|
|
|
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser)
|
rs866726564
|
|
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr)
|
rs762612501
|
|
NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)
|
|
|
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)
|
rs2135923855
|
|
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
|
|
|
NM_014875.3(KIF14):c.1979+2C>T
|
|
|
NM_014875.3(KIF14):c.4353+7T>A
|
|
|
NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)
|
|
|
NM_015102.5(NPHP4):c.1503+2dup
|
|
|
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
|
|
|
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
|
|
|
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
|
|
|
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
|
|
|
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
|
|
|
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
|
|
|
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
|
|
|
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
|
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
|
|
|
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
|
|
|
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
|
|
|
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
|
|
|
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
|
|
|
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
|
|
|
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
|
|
|
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
|
|
|
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
|
|
|
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT
|
rs2151837897
|
|
NM_022095.4(ZNF335):c.2047T>C (p.Cys683Arg)
|
|
|
NM_022095.4(ZNF335):c.2062C>T (p.Arg688Trp)
|
|
|
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)
|
rs752442832
|
|
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
|
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
|
|
|
NM_024596.5(MCPH1):c.1935+6T>C
|
|
|
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
|
|
|
NM_031475.2(ESPN):c.2339_2341delAGG
|
rs1399633263
|
|
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
|
|
|
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
|
|
|
NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)
|
|
|
NM_032793.5(MFSD2A):c.228+8G>A
|
|
|
NM_033550.4(TP53RK):c.185G>A (p.Arg62His)
|
|
|
NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)
|
|
|
NM_138395.4(MARS2):c.590T>A (p.Leu197His)
|
rs2106292827
|
|
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
|
|
|
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
|
|
|
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
|
|
|
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
|
|
|
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)
|
rs1554208064
|
|
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)
|
rs144365187
|
|
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg)
|
rs745387993
|
|
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
|
|
|
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
|
|
|
NM_138694.4(PKHD1):c.6332+2T>A
|
rs1783090781
|
|
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
|
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_145309.6(LRRC51):c.330del (p.His110fs)
|
rs2136541413
|
|
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
|
|
|
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
|
|
|
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
|
|
|
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
|
|
|
NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
|
|
|
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
|
|
|
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
|
|
|
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
|
|
|
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
|
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
|
|
|