NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)
|
rs527638422
|
0.00279
|
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
|
rs111294855
|
0.00212
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)
|
rs34878847
|
0.00096
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)
|
rs201921029
|
0.00072
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)
|
rs150473213
|
0.00034
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)
|
rs122460151
|
0.00004
|
NM_001197104.2(KMT2A):c.10835+1G>C
|
rs141515578
|
0.00004
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
NM_020461.4(TUBGCP6):c.2066-6A>G
|
rs368765755
|
0.00003
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_020944.3(GBA2):c.515G>A (p.Arg172His)
|
rs200268523
|
0.00002
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000275.3(OCA2):c.573+5G>A
|
rs1432628513
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)
|
rs906284769
|
0.00001
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
|
rs1057519004
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)
|
rs1554122911
|
|
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu)
|
rs1555631383
|
|
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter)
|
rs58740567
|
|
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
|
rs796052797
|
|
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)
|
rs1131691799
|
|
NM_001276270.2(MBD4):c.939dup (p.Glu314fs)
|
rs558765093
|
|
NM_001283009.2(RTEL1):c.901_919+72del
|
rs1569090870
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001353108.3(CEP63):c.989_992del (p.Asp330fs)
|
rs797045459
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
|
|
|
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser)
|
rs1064795213
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)
|
rs61995958
|
|
NM_024426.6(WT1):c.1349A>G (p.His450Arg)
|
rs1851851609
|
|
NM_024426.6(WT1):c.1354+5G>A
|
rs2132919246
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu)
|
rs587780341
|
|