NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
0.00003
|
NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu)
|
rs763898442
|
0.00003
|
NM_002025.4(AFF2):c.3267+5G>A
|
rs374064624
|
0.00003
|
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His)
|
rs1556915795
|
0.00003
|
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
|
rs375132545
|
0.00002
|
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val)
|
rs772936641
|
0.00002
|
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
|
rs771538814
|
0.00002
|
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu)
|
rs1557238990
|
0.00001
|
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu)
|
rs1557007283
|
0.00001
|
NM_000377.3(WAS):c.68C>G (p.Pro23Arg)
|
rs1464176187
|
0.00001
|
NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln)
|
rs782596874
|
0.00001
|
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
|
rs1413596219
|
0.00001
|
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser)
|
rs752424355
|
0.00001
|
NM_001330574.2(ZNF711):c.2173A>G (p.Lys725Glu)
|
rs367944400
|
0.00001
|
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile)
|
rs2063927856
|
0.00001
|
NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys)
|
rs761416670
|
0.00001
|
NM_002025.4(AFF2):c.2558G>A (p.Arg853His)
|
rs782648832
|
0.00001
|
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys)
|
rs1556852786
|
0.00001
|
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala)
|
rs781821524
|
0.00001
|
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp)
|
rs373845421
|
0.00001
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1992-2A>C
|
rs797044626
|
|
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val)
|
rs2089304436
|
|
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)
|
rs2147946898
|
|
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)
|
rs2147947019
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000252.3(MTM1):c.1053+5G>T
|
rs1557414132
|
|
NM_000330.4(RS1):c.439T>C (p.Trp147Arg)
|
rs2147191229
|
|
NM_000444.6(PHEX):c.1174-3C>G
|
rs1446526598
|
|
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)
|
rs1060499760
|
|
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val)
|
rs2066171841
|
|
NM_000489.6(ATRX):c.796T>C (p.Tyr266His)
|
rs2071441898
|
|
NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr)
|
rs2062711098
|
|
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met)
|
rs782495199
|
|
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser)
|
rs201008265
|
|
NM_001111125.3(IQSEC2):c.1042C>T (p.Arg348Cys)
|
rs2074443830
|
|
NM_001111125.3(IQSEC2):c.2617C>A (p.Arg873Ser)
|
rs782383669
|
|
NM_001111125.3(IQSEC2):c.2890-3T>G
|
rs2147050192
|
|
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala)
|
rs1928373723
|
|
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp)
|
rs1928233323
|
|
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu)
|
rs1928230109
|
|
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys)
|
rs914370738
|
|
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=)
|
rs782527288
|
|
NM_001271696.3(ABCB7):c.944+3A>G
|
rs2081385144
|
|
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=)
|
rs1556347185
|
|
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer)
|
rs2050407403
|
|
NM_001356.5(DDX3X):c.122C>A (p.Pro41His)
|
rs1341824034
|
|
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly)
|
rs2147356713
|
|
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser)
|
rs2063884615
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001493.3(GDI1):c.335A>G (p.Lys112Arg)
|
|
|
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu)
|
rs913431577
|
|
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
|
|
|
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro)
|
rs2078108310
|
|
NM_003179.3(SYP):c.103G>A (p.Val35Ile)
|
rs2065533995
|
|
NM_003491.4(NAA10):c.430G>A (p.Ala144Thr)
|
rs2065162376
|
|
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)
|
rs2065162324
|
|
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1])
|
rs2030881306
|
|
NM_004463.3(FGD1):c.1500G>A (p.Lys500=)
|
|
|
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser)
|
rs1601950673
|
|
NM_005120.3(MED12):c.1439T>C (p.Leu480Pro)
|
rs2092293046
|
|
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala)
|
rs2092303518
|
|
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
NM_005120.3(MED12):c.397-12A>G
|
rs192515277
|
|
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)
|
rs2147844978
|
|
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
|
rs2065417308
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)
|
rs1555978069
|
|
NM_007325.5(GRIA3):c.1531A>G (p.Ile511Val)
|
|
|
NM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg)
|
|
|
NM_007325.5(GRIA3):c.1679T>C (p.Val560Ala)
|
|
|
NM_007325.5(GRIA3):c.783G>A (p.Met261Ile)
|
|
|
NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg)
|
rs2045406349
|
|
NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn)
|
rs1933404123
|
|
NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val)
|
rs1933408855
|
|
NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser)
|
rs2092417660
|
|
NM_030624.3(KLHL15):c.217C>G (p.His73Asp)
|
rs1929447820
|
|
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala)
|
rs2061606792
|
|
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val)
|
rs398124423
|
|
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala)
|
rs2066616886
|
|
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys)
|
rs2062224866
|
|
NM_032539.5(SLITRK2):c.2485G>T (p.Glu829Ter)
|
|
|
NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg)
|
rs866393484
|
|
NM_153252.5(BRWD3):c.4887delinsAGATCA (p.Arg1630fs)
|
rs2147667202
|
|
NM_153252.5(BRWD3):c.5080C>T (p.Arg1694Ter)
|
rs2072372599
|
|
NM_181672.3(OGT):c.2501A>G (p.Gln834Arg)
|
rs2147691043
|
|