NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)
|
rs201621696
|
0.00400
|
NM_000266.4(NDP):c.*14G>A
|
rs73475744
|
0.00365
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys)
|
rs142052951
|
0.00258
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
NM_001324144.2(ZNF41):c.2215A>T (p.Ile739Leu)
|
rs145129774
|
0.00174
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His)
|
rs144904486
|
0.00050
|
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)
|
rs201825284
|
0.00048
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)
|
rs200511467
|
0.00021
|
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys)
|
rs149032771
|
0.00017
|
NM_004595.5(SMS):c.505+3A>G
|
rs751807035
|
0.00015
|
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser)
|
rs375623451
|
0.00013
|
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)
|
rs375972461
|
0.00013
|
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034
|
0.00013
|
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
|
rs781844419
|
0.00007
|
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys)
|
rs137852489
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
|
rs763745318
|
0.00005
|
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)
|
rs199574770
|
0.00005
|
NM_181332.3(NLGN4X):c.1360G>A (p.Val454Met)
|
rs199525017
|
0.00005
|
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)
|
rs527346259
|
0.00004
|
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326
|
0.00004
|
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met)
|
rs201039304
|
0.00004
|
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)
|
rs886049209
|
0.00003
|
NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln)
|
rs369849214
|
0.00003
|
NM_000381.4(MID1):c.250G>A (p.Asp84Asn)
|
rs374851071
|
0.00002
|
NM_001244008.2(KIF1A):c.363+4C>T
|
rs770137926
|
0.00002
|
NM_001282531.3(ADNP):c.344A>G (p.Asn115Ser)
|
rs140023121
|
0.00002
|
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)
|
rs746433521
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)
|
rs749588699
|
0.00001
|
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser)
|
rs894617575
|
0.00001
|
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile)
|
rs200044811
|
0.00001
|
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)
|
rs749874149
|
0.00001
|
NM_000202.8(IDS):c.542A>G (p.Asn181Ser)
|
rs1569560492
|
|
NM_000489.6(ATRX):c.5311G>C (p.Gly1771Arg)
|
rs1569531574
|
|
NM_000489.6(ATRX):c.5686A>G (p.Lys1896Glu)
|
rs1569528925
|
|
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)
|
rs1569510706
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del)
|
rs1569548334
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
|
NM_004463.3(FGD1):c.1556G>A (p.Arg519His)
|
rs398124157
|
|
NM_004463.3(FGD1):c.415C>T (p.Pro139Ser)
|
rs1569541278
|
|
NM_005120.3(MED12):c.3979C>A (p.Pro1327Thr)
|
rs1569481764
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_006306.4(SMC1A):c.413G>A (p.Gly138Asp)
|
rs1569359134
|
|
NM_006766.5(KAT6A):c.3353-4A>G
|
rs762302738
|
|
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)
|
rs750049486
|
|
NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys)
|
rs782012239
|
|
NM_139058.3(ARX):c.1261C>A (p.Pro421Thr)
|
rs1417254985
|
|
NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln)
|
rs1569261916
|
|