NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
|
rs138125282
|
0.00004
|
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
|
rs749975104
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_007254.4(PNKP):c.1387-2A>G
|
rs766419491
|
0.00002
|
NM_007254.4(PNKP):c.865+1G>A
|
rs762003634
|
0.00002
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
NM_001199107.2(TBC1D24):c.965+2T>C
|
rs755370981
|
0.00001
|
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln)
|
rs1555949009
|
0.00001
|
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)
|
rs587783157
|
0.00001
|
NM_007254.4(PNKP):c.1188+1G>A
|
rs1057518102
|
0.00001
|
NM_007254.4(PNKP):c.1298+1_1298+10del
|
rs1568658916
|
0.00001
|
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser)
|
rs1468724042
|
0.00001
|
NC_000016.10:g.(?_78278583)_(78432772_?)del
|
|
|
NC_000016.10:g.(?_78432468)_(78432772_?)del
|
|
|
NC_000016.9:g.(?_78148926)_(78166880_?)del
|
|
|
NC_000016.9:g.(?_78458747)_(78466669_?)dup
|
|
|
NC_000023.10:g.(?_18582577)_(18627710_?)dup
|
|
|
NC_000023.10:g.(?_18582577)_(18631415_?)dup
|
|
|
NC_000023.11:g.(18581559_18597843)dup
|
|
|
NM_000330.4(RS1):c.326+1111del
|
|
|
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val)
|
rs1591643530
|
|
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)
|
rs867553974
|
|
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
|
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)
|
rs1060499659
|
|
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
|
|
|
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
|
|
|
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
|
|
|
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
|
|
|
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)
|
rs397514556
|
|
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg)
|
rs2136470509
|
|
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser)
|
rs1949321492
|
|
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)
|
rs796052571
|
|
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val)
|
rs1949320223
|
|
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp)
|
rs771157135
|
|
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
|
rs876661151
|
|
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
|
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val)
|
rs1591612279
|
|
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro)
|
rs2136413399
|
|
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
|
|
|
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn)
|
rs1591609136
|
|
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
|
|
|
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
|
|
|
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
|
|
|
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
|
|
|
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala)
|
rs1168374610
|
|
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
|
|
|
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp)
|
rs1320154351
|
|
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val)
|
rs1591605514
|
|
NM_000834.5(GRIN2B):c.412-2A>G
|
rs2136629609
|
|
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
|
|
|
NM_001037343.1:c.100-?_744+?dup
|
|
|
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
|
rs1553579488
|
|
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
|
|
|
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
|
|
|
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)
|
rs1553567561
|
|
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)
|
rs2131030804
|
|
NM_001130438.3(SPTAN1):c.3007-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)
|
rs1564197227
|
|
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)
|
rs1554756114
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)
|
rs1856289676
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu)
|
rs2131682815
|
|
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
|
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)
|
rs2130975930
|
|
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
|
|
|
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
|
rs2131953982
|
|
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
|
rs1589393179
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)
|
rs2131985621
|
|
NM_001130438.3(SPTAN1):c.6690-17G>A
|
rs1554767335
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)
|
rs2132088836
|
|
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val)
|
rs796053327
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)
|
rs796053334
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)
|
rs1554768992
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
|
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)
|
rs2131011877
|
|
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)
|
rs2131012797
|
|
NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)
|
|
|
NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)
|
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
NM_001199107.2(TBC1D24):c.1302+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.1303-2A>G
|
rs2141876985
|
|
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
|
|
|
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)
|
rs1057524192
|
|
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
|
rs1489466696
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
|
rs756181906
|
|
NM_001199107.2(TBC1D24):c.965+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.983+1G>C
|
rs2141873582
|
|
NM_001199107.2(TBC1D24):c.983+2T>C
|
rs1596969717
|
|
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
|
|
|
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln)
|
rs2147132235
|
|
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs)
|
rs1569219331
|
|
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)
|
rs1924899673
|
|
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter)
|
rs267608618
|
|
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)
|
rs1602263431
|
|
NM_001323289.2(CDKL5):c.146-2A>C
|
rs2147139522
|
|
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
|
|
|
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)
|
rs1555952078
|
|
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs)
|
rs2147160942
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs)
|
rs587783115
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
|
|
|
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro)
|
rs1555949009
|
|
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro)
|
rs267608435
|
|
NM_001323289.2(CDKL5):c.2047-2A>C
|
rs1926471092
|
|
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)
|
rs1925264314
|
|
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
|
rs1602269367
|
|
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)
|
rs886043453
|
|
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)
|
rs267608653
|
|
NM_001323289.2(CDKL5):c.2276+1G>A
|
rs1602292181
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs)
|
rs1555954752
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp)
|
rs2147139669
|
|
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val)
|
rs2147139674
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)
|
rs1555955290
|
|
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
|
rs1925418549
|
|
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
|
|
|
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp)
|
rs1925423909
|
|
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
|
|
|
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)
|
rs1569213917
|
|
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
|
|
|
NM_001323289.2(CDKL5):c.404-1G>C
|
|
|
NM_001323289.2(CDKL5):c.404-2_412del
|
rs2147143992
|
|
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)
|
rs1310022305
|
|
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
|
|
|
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)
|
rs1925492808
|
|
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)
|
rs1602272932
|
|
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.464-1G>C
|
rs786204986
|
|
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)
|
rs863225066
|
|
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro)
|
rs757402424
|
|
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
|
|
|
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
|
|
|
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr)
|
rs1064794734
|
|
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)
|
rs2147145565
|
|
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)
|
rs2147145573
|
|
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
|
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
|
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
NM_001323289.2(CDKL5):c.554+2T>C
|
|
|
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
|
|
|
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
|
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
|
|
|
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn)
|
rs2147148013
|
|
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp)
|
rs786204962
|
|
NM_001323289.2(CDKL5):c.601del (p.Glu203fs)
|
rs1925697105
|
|
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)
|
rs587783087
|
|
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
|
|
|
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)
|
rs1925697823
|
|
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)
|
rs1555950468
|
|
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
|
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg)
|
rs2147148092
|
|
NM_001323289.2(CDKL5):c.64+2T>G
|
|
|
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg)
|
rs1922607139
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg)
|
rs267608515
|
|
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys)
|
rs1922801133
|
|
NM_001323289.2(CDKL5):c.745-3007_825+774del
|
|
|
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
|
|
|
NM_001323289.2(CDKL5):c.825+1G>C
|
|
|
NM_001323289.2(CDKL5):c.825+1dup
|
rs1602280455
|
|
NM_001323289.2(CDKL5):c.826-14_835del
|
|
|
NM_001323289.2(CDKL5):c.826-1G>A
|
rs587783149
|
|
NM_001323289.2(CDKL5):c.826-2A>G
|
rs1060501859
|
|
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly)
|
rs1926078505
|
|
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)
|
rs267608532
|
|
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)
|
rs1555940536
|
|
NM_001323289.2(CDKL5):c.99+1G>C
|
rs267608421
|
|
NM_001323289.2(CDKL5):c.99+1G>T
|
rs267608421
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
|
|
|
NM_003159.2(CDKL5):c.-253_-163+?del
|
|
|
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)
|
rs2105837590
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)
|
rs764822052
|
|
NM_006279.5(ST3GAL3):c.397+2T>C
|
rs200255759
|
|
NM_007254.4(PNKP):c.1126+1G>C
|
|
|
NM_007254.4(PNKP):c.1296_1298+13del
|
|
|
NM_007254.4(PNKP):c.1298+1G>A
|
rs149614720
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1386+1G>C
|
rs1057520630
|
|
NM_007254.4(PNKP):c.152-2A>C
|
|
|
NM_007254.4(PNKP):c.199-2A>G
|
rs1391913873
|
|
NM_007254.4(PNKP):c.636+1G>C
|
rs1247055716
|
|
NM_007254.4(PNKP):c.744+1G>C
|
|
|
NM_007254.4(PNKP):c.865+1G>T
|
|
|
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val)
|
rs1554770243
|
|
NM_015192.4(PLCB1):c.1168-1G>A
|
rs2123451785
|
|
NM_015192.4(PLCB1):c.1514-1G>A
|
|
|
NM_015192.4(PLCB1):c.1763+2T>C
|
|
|
NM_015192.4(PLCB1):c.178-2A>G
|
|
|
NM_015192.4(PLCB1):c.1888+1G>A
|
|
|
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs)
|
rs1568577135
|
|
NM_015192.4(PLCB1):c.2208+1G>A
|
rs1235234848
|
|
NM_015192.4(PLCB1):c.2656+1G>T
|
|
|
NM_015192.4(PLCB1):c.464+1G>A
|
|
|
NM_015192.4(PLCB1):c.465-2A>C
|
rs2123290747
|
|
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)
|
rs990536521
|
|
NM_015192.4(PLCB1):c.862+1G>A
|
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.136C>T (p.His46Tyr)
|
rs1597207871
|
|
NM_016373.4(WWOX):c.605+1_605+2delinsAA
|
rs2151934194
|
|
NM_016373.4(WWOX):c.605+2T>C
|
|
|
NM_016373.4(WWOX):c.605_605+3del
|
rs767732033
|
|
NM_016373.4(WWOX):c.791+1G>T
|
rs1164465811
|
|
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)
|
rs886041766
|
|
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)
|
rs747316677
|
|
NM_139058.3(ARX):c.1039T>G (p.Phe347Val)
|
rs1556054888
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)
|
rs1556049714
|
|
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)
|
rs1556049714
|
|
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
|
|
|
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)
|
rs1601945599
|
|
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
|
|
|
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)
|
rs2048669411
|
|
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)
|
rs2147318633
|
|
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
|
|
|
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)
|
rs2147324381
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
NM_139058.3(ARX):c.84C>A (p.Cys28Ter)
|
rs932485786
|
|
NM_139058.3(ARX):c.989G>A (p.Arg330His)
|
rs886039308
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)
|
rs2081188385
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
|
|
|
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter)
|
rs1569075471
|
|