NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg)
|
rs1595438268
|
|
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
|
rs1588302912
|
|
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
|
rs1588306876
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)
|
rs1131692231
|
|
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr)
|
rs1557137042
|
|
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)
|
rs1603309620
|
|
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
|
rs61748427
|
|
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)
|
rs1568546593
|
|
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met)
|
rs1600198481
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)
|
rs1599292631
|
|
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)
|
rs121908225
|
|
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)
|
rs1574240716
|
|
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)
|
rs1574217232
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)
|
rs794729207
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.384-12A>C
|
rs1574291210
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)
|
rs1574271644
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)
|
rs1553549471
|
|
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)
|
rs1602636096
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)
|
rs1602635282
|
|
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
|
rs1602635261
|
|
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)
|
rs1602638228
|
|
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val)
|
rs1602636925
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg)
|
rs1596427970
|
|
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del)
|
rs1596183293
|
|
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
|
rs1602269367
|
|
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)
|
rs2147145573
|
|
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)
|
rs587783087
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.825+1dup
|
rs1602280455
|
|
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)
|
rs1592149771
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)
|
rs1555230928
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)
|
rs758111714
|
|
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs)
|
rs1571266478
|
|
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)
|
rs1602206514
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro)
|
rs2146813611
|
|
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro)
|
rs2146813509
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)
|
rs1601072041
|
|
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)
|
rs1601071747
|
|
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)
|
rs1594383704
|
|
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del)
|
rs1574159505
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln)
|
rs1572001567
|
|
NM_016373.4(WWOX):c.136C>T (p.His46Tyr)
|
rs1597207871
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)
|
rs1596867702
|
|
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro)
|
rs2143664881
|
|
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val)
|
rs1114167431
|
|
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter)
|
rs1573337948
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)
|
rs1601945599
|
|
NM_177550.5(SLC13A5):c.103-1G>A
|
rs1597677742
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser)
|
rs2148537524
|
|