NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)
|
rs765970053
|
0.00013
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)
|
rs376670171
|
0.00011
|
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_033380.3(COL4A5):c.899C>T (p.Pro300Leu)
|
rs375377003
|
0.00010
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys)
|
rs782056386
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)
|
rs376000406
|
0.00005
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)
|
rs781631629
|
0.00003
|
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)
|
rs201173498
|
0.00003
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His)
|
rs1372640211
|
0.00002
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
0.00002
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001128126.3(AP4S1):c.294+1G>T
|
rs886041127
|
0.00001
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)
|
rs760104757
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
0.00001
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)
|
rs1571308125
|
0.00001
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_030954.4(RNF170):c.396+3A>G
|
rs1159600703
|
0.00001
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
|
rs375839864
|
0.00001
|
NM_181426.2(CCDC39):c.1665+1G>A
|
rs753580394
|
0.00001
|
NM_213607.3(CCDC103):c.144-1G>A
|
rs747091524
|
0.00001
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs)
|
rs1554085533
|
|
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser)
|
rs763794604
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
|
rs2147545592
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)
|
rs2148407095
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)
|
rs746890435
|
|
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)
|
rs879255397
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.6988+2T>C
|
rs2151806960
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001371986.1(UNC80):c.8256+2T>G
|
rs1575179679
|
|
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)
|
rs2048519381
|
|
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)
|
rs2071367863
|
|
NM_001904.4(CTNNB1):c.160G>T (p.Glu54Ter)
|
rs2078133150
|
|
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)
|
rs1555702147
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter)
|
rs1287757170
|
|
NM_003285.3(TNR):c.2744_2745del (p.Val915fs)
|
rs1571339601
|
|
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)
|
rs780475918
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)
|
rs797044945
|
|
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)
|
rs2147086302
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe)
|
rs550750241
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter)
|
rs752598529
|
|
NM_004722.4(AP4M1):c.544-8_544-3del
|
rs1064794383
|
|
NM_004722.4(AP4M1):c.694dup (p.Glu232fs)
|
rs1584514057
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr)
|
rs372272045
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005378.6(MYCN):c.1178G>A (p.Arg393His)
|
rs104893646
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
|
rs193922921
|
|
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)
|
rs587777361
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter)
|
rs767651793
|
|
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs)
|
rs1596646165
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)
|
rs587777498
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)
|
rs368625962
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer)
|
rs1594759803
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)
|
rs2087613070
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
|
|
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
|
NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|