NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_030653.4(DDX11):c.1763-1G>C
|
rs148856317
|
0.00024
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)
|
rs267608626
|
0.00009
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln)
|
rs371509136
|
0.00003
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_001061.7(TBXAS1):c.90-1G>C
|
rs765686939
|
0.00001
|
NM_001957.4(EDNRA):c.1142A>C (p.Gln381Pro)
|
rs1219791712
|
0.00001
|
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile)
|
rs773004449
|
0.00001
|
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)
|
rs767506087
|
0.00001
|
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter)
|
rs879255431
|
0.00001
|
NC_000002.12:g.(?_144388714)_(144520303_?)del
|
|
|
NC_000023.11:g.(?_18625128)_(18628587_?)del
|
|
|
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)
|
rs864309551
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg)
|
rs864309560
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001110792.2(MECP2):c.*9G>T
|
rs144008995
|
|
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)
|
rs1557137884
|
|
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys)
|
rs1332969540
|
|
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs)
|
rs1557137776
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)
|
rs61749701
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.784dup (p.Arg262fs)
|
rs61749752
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe)
|
rs1557136251
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001197104.2(KMT2A):c.6329C>G (p.Ser2110Ter)
|
rs864309569
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)
|
rs879255397
|
|
NM_001256789.3(CACNA1F):c.4690G>T (p.Glu1564Ter)
|
rs879255389
|
|
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)
|
rs121908332
|
|
NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter)
|
rs863225065
|
|
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
|
rs267608468
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001374828.1(ARID1B):c.3704G>A (p.Gly1235Asp)
|
rs864309615
|
|
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter)
|
rs864309577
|
|
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)
|
rs774455945
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)
|
rs121909087
|
|
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
|
|
|
NM_005859.5(PURA):c.509_515del (p.Ile170fs)
|
rs879255390
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_014795.4(ZEB2):c.2365del (p.Ser789fs)
|
rs786203992
|
|
NM_014795.4(ZEB2):c.2398dup (p.Ser800fs)
|
rs786203990
|
|
NM_014795.4(ZEB2):c.3544del (p.Glu1182fs)
|
rs786203991
|
|
NM_014795.4(ZEB2):c.808-1G>T
|
rs786203993
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)
|
rs879255404
|
|
NM_015335.5(MED13L):c.5444del (p.Thr1815fs)
|
rs879255407
|
|
NM_015340.4(LARS2):c.2263C>T (p.Gln755Ter)
|
rs879255408
|
|
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs)
|
rs864309607
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
NM_017780.4(CHD7):c.3964del (p.Leu1322fs)
|
rs879255410
|
|
NM_018684.4(ZC4H2):c.608G>T (p.Cys203Phe)
|
rs879255362
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_130838.2(UBE3A):c.[255_259del;269del]
|
|
|
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
|
rs863225068
|
|
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
|
rs863225070
|
|
NM_139058.3(ARX):c.216C>A (p.Ser72Arg)
|
rs587783195
|
|
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)
|
rs786203995
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_152296.5(ATP1A3):c.958G>A (p.Ala320Thr)
|
rs879255368
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_201384.3(PLEC):c.13297A>T (p.Lys4433Ter)
|
rs864309634
|
|
NM_201384.3(PLEC):c.5932G>T (p.Glu1978Ter)
|
rs864309635
|
|