NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)
|
rs778363138
|
0.00013
|
NM_004608.4(TBX6):c.356G>A (p.Arg119His)
|
rs200175825
|
0.00007
|
NM_000204.5(CFI):c.310G>A (p.Gly104Arg)
|
rs200419722
|
0.00006
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)
|
rs146919762
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)
|
rs201180239
|
0.00006
|
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala)
|
rs548019779
|
0.00005
|
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser)
|
rs773440242
|
0.00005
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp)
|
rs745926869
|
0.00004
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)
|
rs569962285
|
0.00003
|
NM_001080442.3(SLC38A8):c.806-3C>G
|
rs1057516193
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001297.5(CNGB1):c.2893-7G>A
|
rs749199721
|
0.00003
|
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)
|
rs752029771
|
0.00003
|
NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu)
|
rs372201423
|
0.00003
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp)
|
rs566993466
|
0.00002
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg)
|
rs200529020
|
0.00002
|
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln)
|
rs567175477
|
0.00002
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu)
|
rs746766677
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser)
|
rs1271416659
|
0.00001
|
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)
|
rs766550724
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys)
|
rs1292929833
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716
|
0.00001
|
NM_000451.4(SHOX):c.479G>A (p.Arg160His)
|
rs1159449478
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)
|
rs1197105310
|
0.00001
|
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)
|
rs780873164
|
0.00001
|
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr)
|
rs368581522
|
0.00001
|
NM_002292.4(LAMB2):c.240T>G (p.Ser80Arg)
|
rs746230397
|
0.00001
|
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter)
|
rs763991433
|
0.00001
|
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu)
|
rs281865225
|
0.00001
|
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)
|
rs759055242
|
0.00001
|
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)
|
rs1553526162
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter)
|
rs771262904
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
|
|
|
NM_000037.4(ANK1):c.4051del (p.Asp1351fs)
|
rs1586114714
|
|
NM_000045.4(ARG1):c.30del (p.Ile11fs)
|
rs1773467460
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
NM_000064.4(C3):c.2061dup (p.Lys688fs)
|
rs1599518940
|
|
NM_000064.4(C3):c.2531A>G (p.Gln844Arg)
|
rs1599510478
|
|
NM_000064.4(C3):c.3908G>A (p.Arg1303His)
|
rs775015499
|
|
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser)
|
rs1907108266
|
|
NM_000088.4(COL1A1):c.2586del (p.Gly863fs)
|
rs1598289920
|
|
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter)
|
rs886039880
|
|
NM_000091.4:c.1900G>A;c.1927G>A
|
|
|
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser)
|
rs1363441287
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg)
|
rs1559890352
|
|
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg)
|
rs983885088
|
|
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser)
|
rs1574782666
|
|
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp)
|
rs1402894646
|
|
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp)
|
rs1553760558
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg)
|
rs1305836268
|
|
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu)
|
rs1574823355
|
|
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu)
|
rs748901402
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg)
|
rs1574681401
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
NM_000092.5(COL4A4):c.1030-1G>C
|
rs1559620132
|
|
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val)
|
rs1559594442
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp)
|
rs1559563141
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
|
rs1976595425
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val)
|
rs1559455617
|
|
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp)
|
rs971779449
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys)
|
rs1553622675
|
|
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser)
|
rs886055729
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
NM_000092.5(COL4A4):c.693G>A (p.Lys231=)
|
rs1559644463
|
|
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
|
rs2060994755
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val)
|
rs1005389790
|
|
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn)
|
rs1970720537
|
|
NM_000162.5(GCK):c.371A>T (p.Asp124Val)
|
rs1554335612
|
|
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs)
|
rs763890649
|
|
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg)
|
rs61750174
|
|
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)
|
rs1573087200
|
|
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)
|
rs1553270437
|
|
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser)
|
rs1579173999
|
|
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs)
|
rs1848613169
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)
|
rs746274670
|
|
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs)
|
rs2095878223
|
|
NM_000256.3(MYBPC3):c.519del (p.Phe174fs)
|
rs1595849742
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)
|
rs1591467918
|
|
NM_000274.4(OAT):c.980C>G (p.Pro327Arg)
|
rs1589698958
|
|
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)
|
rs1602783564
|
|
NM_000278.5(PAX2):c.220del (p.Glu74fs)
|
rs1589813539
|
|
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro)
|
rs1556014969
|
|
NM_000297.4(PKD2):c.1390del (p.Arg464fs)
|
rs1727786451
|
|
NM_000297.4(PKD2):c.691dup (p.Leu231fs)
|
rs1553924174
|
|
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)
|
rs1578118371
|
|
NM_000321.3(RB1):c.1002del (p.Arg334fs)
|
rs1593448449
|
|
NM_000321.3(RB1):c.1696-2A>G
|
rs1593529868
|
|
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)
|
rs750136284
|
|
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)
|
rs1554269071
|
|
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)
|
rs1800114220
|
|
NM_000322.5(PRPH2):c.829-1G>A
|
rs1582759782
|
|
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp)
|
rs886039870
|
|
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)
|
rs886039882
|
|
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)
|
rs1570393848
|
|
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)
|
rs141823837
|
|
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)
|
rs1570373408
|
|
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)
|
rs748706582
|
|
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)
|
rs767729255
|
|
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)
|
rs951379922
|
|
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)
|
rs886039877
|
|
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)
|
rs2074897929
|
|
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg)
|
rs1363412937
|
|
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)
|
rs1603288832
|
|
NM_000424.4(KRT5):c.1394T>G (p.Val465Gly)
|
rs1555156076
|
|
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro)
|
rs915608304
|
|
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser)
|
rs1602244810
|
|
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)
|
rs1570276921
|
|
NM_000490.5(AVP):c.131G>T (p.Cys44Phe)
|
rs1057516192
|
|
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)
|
rs1586244371
|
|
NM_000517.6(HBA2):c.268_280del (p.His90fs)
|
rs1596570041
|
|
NM_000527.5(LDLR):c.463T>A (p.Cys155Ser)
|
rs879254535
|
|
NM_000537.4(REN):c.47T>A (p.Leu16His)
|
rs121917743
|
|
NM_000539.3(RHO):c.328T>G (p.Cys110Gly)
|
rs1578278438
|
|
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)
|
rs1555212749
|
|
NM_000548.5(TSC2):c.1565_1566del (p.His522fs)
|
rs1555502530
|
|
NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del)
|
rs2090626831
|
|
NM_000554.6(CRX):c.565del (p.Ala189fs)
|
rs1568626289
|
|
NM_000554.6(CRX):c.898T>C (p.Ter300Gln)
|
rs1599992745
|
|
NM_000557.5(GDF5):c.1397G>A (p.Cys466Tyr)
|
rs886039878
|
|
NM_000618.5(IGF1):c.285C>A (p.Cys95Ter)
|
rs3730193
|
|
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)
|
rs886039883
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter)
|
rs1691898752
|
|
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp)
|
rs1692107154
|
|
NM_000860.6(HPGD):c.446C>G (p.Pro149Arg)
|
rs375335006
|
|
NM_000901.5(NR3C2):c.2096del (p.Pro699fs)
|
rs748573472
|
|
NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter)
|
rs765879360
|
|
NM_001009944.3(PKD1):c.11017-47_11022del
|
rs2091672168
|
|
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs)
|
rs1596485991
|
|
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)
|
rs745912756
|
|
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs)
|
rs1555446053
|
|
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs)
|
rs2091616873
|
|
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)
|
rs770667157
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu)
|
rs1060499699
|
|
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs)
|
rs2092593686
|
|
NM_001009944.3(PKD1):c.2861del (p.Ser954fs)
|
rs1555457482
|
|
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)
|
rs1596566156
|
|
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val)
|
rs1555456744
|
|
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val)
|
rs1282205691
|
|
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs)
|
rs1555454886
|
|
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro)
|
rs1555454606
|
|
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
|
rs1596590574
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)
|
rs1596527744
|
|
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg)
|
rs1555450920
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser)
|
rs1165123201
|
|
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs)
|
rs1596514864
|
|
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp)
|
rs1060499704
|
|
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal)
|
rs1057516202
|
|
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser)
|
rs1555449378
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)
|
rs1572829010
|
|
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)
|
rs886039872
|
|
NM_001042492.3(NF1):c.15del (p.Arg5fs)
|
rs1057516197
|
|
NM_001042492.3(NF1):c.2010del (p.Ala671fs)
|
rs1597712251
|
|
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs)
|
rs1597719490
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)
|
rs1564492988
|
|
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs)
|
rs1564443979
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
NM_001081.4(CUBN):c.5549-2A>C
|
rs1564435513
|
|
NM_001081.4(CUBN):c.7534-1G>T
|
rs1588639188
|
|
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)
|
rs1564379463
|
|
NM_001103.4(ACTN2):c.229G>T (p.Glu77Ter)
|
rs1572112489
|
|
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=)
|
rs1057516190
|
|
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser)
|
rs2055190908
|
|
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser)
|
rs1429832884
|
|
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp)
|
rs139743444
|
|
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro)
|
rs1555499151
|
|
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)
|
rs1596890176
|
|
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)
|
rs1600271575
|
|
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys)
|
rs1933257247
|
|
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr)
|
rs768837125
|
|
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)
|
rs1568839335
|
|
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)
|
rs1555190969
|
|
NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer)
|
rs1594329885
|
|
NM_001172509.2(SATB2):c.75del (p.Pro26fs)
|
rs1574645416
|
|
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs)
|
rs1057516196
|
|
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile)
|
rs1060499697
|
|
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter)
|
rs777986863
|
|
NM_001177316.2(SLC34A3):c.560+27_561-38del
|
rs746082077
|
|
NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg)
|
rs1555366438
|
|
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)
|
rs1596017653
|
|
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter)
|
rs372529012
|
|
NM_001256789.3(CACNA1F):c.3037-2A>G
|
rs1057516199
|
|
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)
|
rs1226708979
|
|
NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter)
|
rs756238324
|
|
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)
|
rs1574390811
|
|
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)
|
rs1330263985
|
|
NM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter)
|
rs1057516195
|
|
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)
|
rs1553704841
|
|
NM_001354712.2(THRB):c.977A>G (p.Glu326Gly)
|
rs1060499695
|
|
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg)
|
rs1161445886
|
|
NM_001369268.1(ACAN):c.-7-2A>T
|
rs1596128699
|
|
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs)
|
rs1572931120
|
|
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs)
|
rs763898293
|
|
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs)
|
rs1586841546
|
|
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)
|
rs1555165335
|
|
NM_001844.5(COL2A1):c.3436-2A>G
|
rs1592198803
|
|
NM_002585.4(PBX1):c.618dup (p.Lys207fs)
|
rs1571431063
|
|
NM_002585.4(PBX1):c.634C>T (p.Gln212Ter)
|
rs1668978337
|
|
NM_002585.4(PBX1):c.703C>T (p.Arg235Trp)
|
rs1571445295
|
|
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)
|
rs1597229404
|
|
NM_002968.3(SALL1):c.2287dup (p.Arg763fs)
|
rs1597229151
|
|
NM_002968.3(SALL1):c.2801del (p.Ser934fs)
|
rs1597228490
|
|
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)
|
rs770588592
|
|
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys)
|
rs773289713
|
|
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp)
|
rs1309307492
|
|
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala)
|
rs1554095500
|
|
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg)
|
rs796052033
|
|
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)
|
rs1449715458
|
|
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs)
|
rs1602942625
|
|
NM_003647.3(DGKE):c.1169G>A (p.Arg390His)
|
rs1060499709
|
|
NM_003647.3(DGKE):c.1442dup (p.Val482fs)
|
rs1567825026
|
|
NM_003647.3(DGKE):c.178C>G (p.His60Asp)
|
rs1482608926
|
|
NM_003901.4(SGPL1):c.87del (p.Asn28_Tyr29insTer)
|
rs1564622701
|
|
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)
|
rs1431752515
|
|
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser)
|
rs1565392261
|
|
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)
|
rs1555470631
|
|
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)
|
rs1827646767
|
|
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys)
|
rs1555003819
|
|
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met)
|
rs114849139
|
|
NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys)
|
rs772979927
|
|
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser)
|
rs1568723797
|
|
NM_004924.6(ACTN4):c.510_512del (p.Leu171del)
|
rs1568725026
|
|
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg)
|
rs1590859406
|
|
NM_005378.6(MYCN):c.845_846del (p.Val282fs)
|
rs1572220856
|
|
NM_005450.6(NOG):c.599T>C (p.Leu200Pro)
|
rs1567745111
|
|
NM_005630.3(SLCO2A1):c.1106-1G>C
|
rs1576428882
|
|
NM_005630.3(SLCO2A1):c.86del (p.Gly29fs)
|
rs1576467025
|
|
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser)
|
rs1564801134
|
|
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)
|
rs1585569717
|
|
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)
|
rs1573592033
|
|
NM_006494.4(ERF):c.286A>T (p.Lys96Ter)
|
rs1599823350
|
|
NM_006915.3(RP2):c.758del (p.Leu253fs)
|
rs1602347992
|
|
NM_006941.4(SOX10):c.428+2T>C
|
rs1601886662
|
|
NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg)
|
rs1787041288
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu)
|
rs1833698535
|
|
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)
|
rs545551160
|
|
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
|
rs1313658611
|
|
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)
|
rs761628767
|
|
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)
|
rs12150890
|
|
NM_014625.4(NPHS2):c.167del (p.Glu56fs)
|
rs1558355124
|
|
NM_014625.4(NPHS2):c.479A>T (p.Asp160Val)
|
rs74315346
|
|
NM_014669.5(NUP93):c.1709T>A (p.Val570Glu)
|
rs1351580598
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp)
|
rs1555384338
|
|
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs)
|
rs1570504754
|
|
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)
|
rs1600356790
|
|
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)
|
rs2073703461
|
|
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His)
|
rs1559642470
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe)
|
rs886039881
|
|
NM_018192.4(P3H2):c.679G>T (p.Glu227Ter)
|
rs1408355931
|
|
NM_018668.5(VPS33B):c.498G>C (p.Leu166=)
|
rs1555459218
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_020184.4(CNNM4):c.782T>C (p.Leu261Pro)
|
rs1574047005
|
|
NM_020433.5(JPH2):c.191G>A (p.Trp64Ter)
|
rs754529157
|
|
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter)
|
rs777893794
|
|
NM_020843.4(SCAPER):c.2653del (p.Glu885fs)
|
rs1597752941
|
|
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)
|
rs1760068807
|
|
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)
|
rs372066126
|
|
NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln)
|
rs1226344391
|
|
NM_024312.5(GNPTAB):c.1664_1667delinsTA (p.Tyr555fs)
|
rs1953072149
|
|
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer)
|
rs1570655570
|
|
NM_024426.6(WT1):c.1259A>C (p.His420Pro)
|
rs1554939785
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg)
|
rs1603286154
|
|
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg)
|
rs1556410516
|
|
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg)
|
rs1603290169
|
|
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg)
|
rs1569494061
|
|
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu)
|
rs1603292422
|
|
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu)
|
rs1569497690
|
|
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp)
|
rs1556419831
|
|
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser)
|
rs1603297305
|
|
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala)
|
rs1556419869
|
|
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val)
|
rs1556419895
|
|
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)
|
rs1556420349
|
|
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser)
|
rs1556420358
|
|
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu)
|
rs1603298378
|
|
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu)
|
rs1569498623
|
|
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys)
|
rs1603298869
|
|
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu)
|
rs1603298993
|
|
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)
|
rs1603306716
|
|
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)
|
rs1060499710
|
|
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val)
|
rs2068097992
|
|
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=)
|
rs281874724
|
|
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val)
|
rs104886282
|
|
NM_033380.3(COL4A5):c.4529-345A>G
|
rs1569508899
|
|
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe)
|
rs1569509257
|
|
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser)
|
rs1556404985
|
|
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)
|
rs104886061
|
|
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser)
|
rs1569490379
|
|
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val)
|
rs104886066
|
|
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp)
|
rs1556406001
|
|
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg)
|
rs1603283567
|
|
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val)
|
rs1556407064
|
|
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)
|
rs749758687
|
|
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys)
|
rs913477149
|
|
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)
|
rs886039888
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)
|
rs1554263076
|
|
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
|
rs1582469538
|
|
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)
|
rs1057516201
|
|
NM_139027.6(ADAMTS13):c.1585-1G>C
|
rs1554789680
|
|
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del)
|
rs1554797078
|
|
NM_144997.7(FLCN):c.1549del (p.Val517fs)
|
rs1597574368
|
|
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp)
|
rs1594865064
|
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NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
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rs1565058763
|
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NM_153717.3(EVC):c.384G>T (p.Arg128=)
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rs1553865346
|
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NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del)
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rs1588119681
|
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NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs)
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rs1880707874
|
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NM_172240.3(POC1B):c.52A>T (p.Lys18Ter)
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rs758725010
|
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NM_172351.3(CD46):c.685C>T (p.Arg229Ter)
|
rs1553251787
|
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NM_173689.7(CRB2):c.47_53dup (p.Leu19fs)
|
rs1588200023
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr)
|
rs1060499693
|
|
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn)
|
rs1060499715
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_198428.3(BBS9):c.785T>C (p.Val262Ala)
|
rs886039875
|
|
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr)
|
rs886039871
|
|
NM_201548.5(CERKL):c.677+547G>A
|
rs1044562973
|
|
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val)
|
rs1419157426
|
|
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)
|
rs1360258103
|
|
NM_206933.4(USH2A):c.8558+5G>A
|
rs746331566
|
|