|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
|
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)
|
rs201424543
|
0.00049
|
|
NM_033380.3(COL4A5):c.2510-33A>G
|
rs104886358
|
0.00039
|
|
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)
|
rs189694750
|
0.00022
|
|
NM_002139.4(RBMX):c.389-8T>C
|
rs181515589
|
0.00011
|
|
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)
|
rs374431961
|
0.00011
|
|
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro)
|
rs1557249087
|
0.00005
|
|
NM_007325.5(GRIA3):c.813G>C (p.Gln271His)
|
rs756316953
|
0.00004
|
|
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)
|
rs782458308
|
0.00002
|
|
NM_005120.3(MED12):c.6267+166G>A
|
rs1247198443
|
0.00002
|
|
NM_012216.4(MID2):c.491G>A (p.Arg164His)
|
rs778859599
|
0.00002
|
|
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys)
|
rs782659789
|
0.00002
|
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412
|
0.00001
|
|
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln)
|
rs782067205
|
0.00001
|
|
NM_001110556.2(FLNA):c.546G>C (p.Gln182His)
|
rs1557179648
|
0.00001
|
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
|
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
|
rs770645649
|
0.00001
|
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
|
NM_001320752.2(STS):c.1111A>G (p.Ile371Val)
|
rs748174656
|
0.00001
|
|
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)
|
rs763066236
|
0.00001
|
|
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met)
|
rs782205045
|
0.00001
|
|
NM_005120.3(MED12):c.3210-27C>T
|
rs752463122
|
0.00001
|
|
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln)
|
rs1263803925
|
0.00001
|
|
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu)
|
rs766760741
|
0.00001
|
|
NM_181672.3(OGT):c.349C>T (p.Arg117Cys)
|
rs1317050680
|
0.00001
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
|
NM_000266.4(NDP):c.200G>T (p.Gly67Val)
|
rs1460859456
|
|
|
NM_000381.4(MID1):c.757-5831A>G
|
rs1555896387
|
|
|
NM_000444.6(PHEX):c.1587-1G>A
|
rs886041839
|
|
|
NM_000475.5(NR0B1):c.1267del (p.His423fs)
|
rs1569268048
|
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
|
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr)
|
rs1555927212
|
|
|
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter)
|
rs2074379209
|
|
|
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=)
|
rs782748833
|
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
|
NM_001330574.2(ZNF711):c.2210T>G (p.Leu737Arg)
|
rs1555975302
|
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
|
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr)
|
rs1569233520
|
|
|
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter)
|
rs1602424764
|
|
|
NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile)
|
rs2060020376
|
|
|
NM_002578.5(PAK3):c.534AGA[4] (p.Glu182del)
|
rs749370794
|
|
|
NM_004187.5(KDM5C):c.*129C>T
|
rs1602156447
|
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
|
NM_004595.5(SMS):c.13C>G (p.Arg5Gly)
|
rs1921698887
|
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
|
NM_006517.5(SLC16A2):c.1170+4_1170+7del
|
rs1555989846
|
|
|
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)
|
rs933036653
|
|
|
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)
|
rs1930457917
|
|
|
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter)
|
rs1569261319
|
|
|
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile)
|
rs1569546782
|
|
|
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met)
|
rs1569473370
|
|
|
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)
|
rs1559746613
|
|