NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
NM_004855.5(PIGB):c.1432C>G (p.Leu478Val)
|
rs187070265
|
0.00109
|
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr)
|
rs147455569
|
0.00104
|
NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=)
|
rs138585463
|
0.00085
|
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu)
|
rs146646020
|
0.00081
|
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)
|
rs41291894
|
0.00076
|
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)
|
rs140802292
|
0.00075
|
NM_001367561.1(DOCK7):c.2605G>A (p.Gly869Ser)
|
rs201823761
|
0.00069
|
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys)
|
rs138840581
|
0.00062
|
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg)
|
rs139919081
|
0.00047
|
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)
|
rs114371269
|
0.00044
|
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln)
|
rs529642370
|
0.00043
|
NM_001378457.1(DMXL2):c.7148C>G (p.Ala2383Gly)
|
rs140233306
|
0.00043
|
NM_001278512.2(AP3B2):c.1183-19T>G
|
rs377729111
|
0.00036
|
NM_001042646.3(TRAK1):c.2345C>T (p.Pro782Leu)
|
rs112854798
|
0.00034
|
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr)
|
rs143880787
|
0.00034
|
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met)
|
rs150686631
|
0.00034
|
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)
|
rs184436336
|
0.00030
|
NM_004341.5(CAD):c.461A>G (p.Asn154Ser)
|
rs147694325
|
0.00027
|
NM_015047.3(EMC1):c.1109A>G (p.Asn370Ser)
|
rs144675935
|
0.00026
|
NM_015047.3(EMC1):c.104A>G (p.Gln35Arg)
|
rs147726649
|
0.00022
|
NM_001365999.1(SZT2):c.8775G>C (p.Gln2925His)
|
rs762236975
|
0.00019
|
NM_153682.3(PIGP):c.-20T>G
|
rs112970770
|
0.00017
|
NM_015047.3(EMC1):c.305A>G (p.Asn102Ser)
|
rs371844391
|
0.00016
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln)
|
rs779009526
|
0.00013
|
NM_005918.4(MDH2):c.376G>A (p.Ala126Thr)
|
rs371141951
|
0.00011
|
NM_014334.4(FRRS1L):c.740C>T (p.Pro247Leu)
|
rs199731037
|
0.00011
|
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro)
|
rs61752559
|
0.00011
|
NM_203446.3(SYNJ1):c.-57T>G
|
rs921606190
|
0.00010
|
NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp)
|
rs188892600
|
0.00009
|
NM_015047.3(EMC1):c.95+11G>A
|
rs758051221
|
0.00009
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile)
|
rs201662175
|
0.00009
|
NM_015047.3(EMC1):c.2248G>A (p.Ala750Thr)
|
rs148338469
|
0.00008
|
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)
|
rs371360176
|
0.00008
|
NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met)
|
rs368808380
|
0.00008
|
NM_001042646.3(TRAK1):c.212A>G (p.His71Arg)
|
rs201136046
|
0.00007
|
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)
|
rs199596170
|
0.00007
|
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser)
|
rs375048004
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr)
|
rs147201727
|
0.00006
|
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala)
|
rs142373936
|
0.00006
|
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg)
|
rs765855460
|
0.00006
|
NM_033453.4(ITPA):c.416G>A (p.Arg139Gln)
|
rs771525761
|
0.00006
|
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=)
|
rs918131106
|
0.00006
|
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln)
|
rs368332006
|
0.00005
|
NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser)
|
rs375546787
|
0.00005
|
NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys)
|
rs143390199
|
0.00005
|
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg)
|
rs1229429201
|
0.00004
|
NM_001042646.3(TRAK1):c.568G>A (p.Val190Ile)
|
rs552538335
|
0.00004
|
NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys)
|
rs760099699
|
0.00004
|
NM_001365999.1(SZT2):c.5668C>T (p.Pro1890Ser)
|
rs772875195
|
0.00004
|
NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met)
|
rs1174812322
|
0.00004
|
NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser)
|
rs375246952
|
0.00004
|
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg)
|
rs936685159
|
0.00004
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_152743.4(BRAT1):c.1378C>T (p.Pro460Ser)
|
rs373935601
|
0.00004
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile)
|
rs140389204
|
0.00004
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser)
|
rs774766308
|
0.00003
|
NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro)
|
rs775126490
|
0.00003
|
NM_004667.6(HERC2):c.7069+3G>A
|
rs778173804
|
0.00003
|
NM_014334.4(FRRS1L):c.544G>A (p.Ala182Thr)
|
rs776628840
|
0.00003
|
NM_014334.4(FRRS1L):c.604G>A (p.Val202Ile)
|
rs753224453
|
0.00003
|
NM_016373.4(WWOX):c.995A>C (p.His332Pro)
|
rs775584864
|
0.00003
|
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His)
|
rs764688100
|
0.00003
|
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser)
|
rs900615101
|
0.00002
|
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe)
|
rs758632567
|
0.00002
|
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)
|
rs587783137
|
0.00002
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met)
|
rs780098532
|
0.00002
|
NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu)
|
rs757342482
|
0.00002
|
NM_001365999.1(SZT2):c.1994G>A (p.Arg665His)
|
rs754481570
|
0.00002
|
NM_001365999.1(SZT2):c.6500G>A (p.Gly2167Glu)
|
rs146540759
|
0.00002
|
NM_001365999.1(SZT2):c.9185A>G (p.His3062Arg)
|
rs745917157
|
0.00002
|
NM_001367561.1(DOCK7):c.4490C>T (p.Thr1497Met)
|
rs200226943
|
0.00002
|
NM_004341.5(CAD):c.5488A>G (p.Met1830Val)
|
rs747817554
|
0.00002
|
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr)
|
rs1555321245
|
0.00002
|
NM_014334.4(FRRS1L):c.487G>A (p.Val163Ile)
|
rs374214528
|
0.00002
|
NM_015047.3(EMC1):c.713C>T (p.Pro238Leu)
|
rs199964251
|
0.00002
|
NM_015047.3(EMC1):c.737A>C (p.Gln246Pro)
|
rs200901424
|
0.00002
|
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu)
|
rs1267794670
|
0.00002
|
NM_022786.3(ARV1):c.29A>G (p.Gln10Arg)
|
rs747844345
|
0.00002
|
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu)
|
rs768025261
|
0.00002
|
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)
|
rs775749558
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_000330.4(RS1):c.185-3090_185-3089insT
|
rs1158418673
|
0.00001
|
NM_000836.4(GRIN2D):c.1085+13G>A
|
rs956727278
|
0.00001
|
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr)
|
rs759019629
|
0.00001
|
NM_001037333.3(CYFIP2):c.2381T>C (p.Ile794Thr)
|
rs934692505
|
0.00001
|
NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser)
|
rs764538126
|
0.00001
|
NM_001100913.3(PACS2):c.58G>A (p.Val20Met)
|
rs2058502984
|
0.00001
|
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)
|
rs61748414
|
0.00001
|
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)
|
rs776728710
|
0.00001
|
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)
|
rs121917992
|
0.00001
|
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)
|
rs771936735
|
0.00001
|
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)
|
rs1926294168
|
0.00001
|
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln)
|
rs1064795857
|
0.00001
|
NM_001365999.1(SZT2):c.10155+5G>C
|
rs755843150
|
0.00001
|
NM_001365999.1(SZT2):c.2759G>A (p.Gly920Asp)
|
rs764539994
|
0.00001
|
NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val)
|
rs200635457
|
0.00001
|
NM_001365999.1(SZT2):c.3919+16G>A
|
rs753803790
|
0.00001
|
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile)
|
rs745970630
|
0.00001
|
NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val)
|
rs755029775
|
0.00001
|
NM_001365999.1(SZT2):c.9160G>A (p.Val3054Met)
|
rs565123375
|
0.00001
|
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)
|
rs148287864
|
0.00001
|
NM_001367561.1(DOCK7):c.3098G>A (p.Arg1033Lys)
|
rs1413099334
|
0.00001
|
NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr)
|
rs765024443
|
0.00001
|
NM_001367561.1(DOCK7):c.5819G>A (p.Arg1940Gln)
|
rs779959516
|
0.00001
|
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys)
|
rs1445335859
|
0.00001
|
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=)
|
rs772468981
|
0.00001
|
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys)
|
rs770953907
|
0.00001
|
NM_004341.5(CAD):c.4315-3C>T
|
rs867496821
|
0.00001
|
NM_004341.5(CAD):c.4564-9C>G
|
rs575379595
|
0.00001
|
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val)
|
rs1041556030
|
0.00001
|
NM_004341.5(CAD):c.625C>G (p.Leu209Val)
|
rs374182358
|
0.00001
|
NM_004341.5(CAD):c.859C>T (p.Arg287Cys)
|
rs753478495
|
0.00001
|
NM_004408.4(DNM1):c.2076+4C>T
|
rs374379668
|
0.00001
|
NM_004408.4(DNM1):c.386-8C>T
|
rs764950748
|
0.00001
|
NM_005918.4(MDH2):c.421G>A (p.Ala141Thr)
|
rs782204186
|
0.00001
|
NM_006279.5(ST3GAL3):c.303-9A>G
|
rs762536905
|
0.00001
|
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys)
|
rs1448699021
|
0.00001
|
NM_015047.3(EMC1):c.2374G>C (p.Val792Leu)
|
rs758769418
|
0.00001
|
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn)
|
rs764250569
|
0.00001
|
NM_015213.4(DENND5A):c.1940A>G (p.Asp647Gly)
|
rs1392402979
|
0.00001
|
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val)
|
rs1477942819
|
0.00001
|
NM_016373.4(WWOX):c.228T>C (p.Val76=)
|
rs370579498
|
0.00001
|
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)
|
rs770001837
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)
|
rs746833923
|
0.00001
|
NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg)
|
rs753065727
|
0.00001
|
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg)
|
rs1397065690
|
0.00001
|
NM_020708.5(SLC12A5):c.148-16C>G
|
rs751494861
|
0.00001
|
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)
|
rs546939045
|
0.00001
|
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=)
|
rs1394912099
|
0.00001
|
NM_024818.6(UBA5):c.169A>G (p.Met57Val)
|
rs532178791
|
0.00001
|
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg)
|
rs761602649
|
0.00001
|
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg)
|
rs780326561
|
0.00001
|
NM_033453.4(ITPA):c.316G>C (p.Gly106Arg)
|
rs202194282
|
0.00001
|
NM_152743.4(BRAT1):c.1732C>T (p.His578Tyr)
|
rs747577493
|
0.00001
|
NM_198503.5(KCNT2):c.1295-18C>T
|
rs1189514330
|
0.00001
|
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg)
|
rs1728466964
|
|
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro)
|
rs1890741727
|
|
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys)
|
rs1565474582
|
|
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del)
|
rs1565457062
|
|
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser)
|
rs1555103159
|
|
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)
|
rs1565452616
|
|
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala)
|
rs1971296612
|
|
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val)
|
rs753854352
|
|
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile)
|
rs1564350546
|
|
NM_001037.5(SCN1B):c.*13G>A
|
rs1555721564
|
|
NM_001037333.3(CYFIP2):c.1391T>G (p.Met464Arg)
|
|
|
NM_001037333.3(CYFIP2):c.1540C>T (p.Arg514Ter)
|
rs868243549
|
|
NM_001037333.3(CYFIP2):c.1834C>A (p.Gln612Lys)
|
rs1760952349
|
|
NM_001037333.3(CYFIP2):c.2011A>G (p.Asn671Asp)
|
rs1761007330
|
|
NM_001037333.3(CYFIP2):c.2558A>G (p.Asn853Ser)
|
rs1762073906
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
NM_001040142.2(SCN2A):c.367A>C (p.Ile123Leu)
|
rs1396703741
|
|
NM_001040142.2(SCN2A):c.4255-3C>T
|
rs1553461654
|
|
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
|
|
|
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro)
|
rs1942124594
|
|
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
|
|
|
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu)
|
rs1942189447
|
|
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln)
|
rs1933583293
|
|
NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)
|
|
|
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln)
|
rs2065927241
|
|
NM_001110792.2(MECP2):c.465A>G (p.Glu155=)
|
rs2065960775
|
|
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp)
|
rs1057524457
|
|
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
|
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg)
|
rs2057946815
|
|
NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly)
|
rs2057731579
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)
|
rs768567834
|
|
NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)
|
rs201789073
|
|
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys)
|
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe)
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys)
|
rs1433873178
|
|
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)
|
rs753884600
|
|
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val)
|
rs1568574634
|
|
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)
|
rs2059190094
|
|
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)
|
rs2054617641
|
|
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser)
|
rs766491965
|
|
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn)
|
rs1855652617
|
|
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)
|
rs1407200590
|
|
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)
|
rs1858943245
|
|
NM_001130438.3(SPTAN1):c.7160+5_7160+9del
|
rs747442396
|
|
NM_001139500.2(FGF13):c.137C>T (p.Ser46Phe)
|
|
|
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)
|
rs1057518703
|
|
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
|
rs1693190884
|
|
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu)
|
rs1559152754
|
|
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
|
rs1692164539
|
|
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg)
|
rs1928402131
|
|
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val)
|
rs1248114037
|
|
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys)
|
rs1569315225
|
|
NM_001191061.2(SLC25A22):c.658GAG[1] (p.Glu221del)
|
rs1307254132
|
|
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)
|
rs1567141162
|
|
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly)
|
rs2054031451
|
|
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=)
|
rs2054119126
|
|
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu)
|
rs2054212404
|
|
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln)
|
rs1430565994
|
|
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro)
|
rs2054438338
|
|
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
|
|
|
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
|
|
|
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu)
|
rs1569214324
|
|
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro)
|
rs1569217205
|
|
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)
|
rs1941787074
|
|
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
|
|
|
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu)
|
rs1942887434
|
|
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
|
|
|
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)
|
rs1698156445
|
|
NM_001365999.1(SZT2):c.5779C>T (p.Arg1927Cys)
|
rs370833658
|
|
NM_001365999.1(SZT2):c.6284A>G (p.Tyr2095Cys)
|
rs947784174
|
|
NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu)
|
rs766552506
|
|
NM_001365999.1(SZT2):c.7136G>T (p.Arg2379Leu)
|
rs1204610877
|
|
NM_001365999.1(SZT2):c.7916G>T (p.Ser2639Ile)
|
rs1655152526
|
|
NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=)
|
rs867941005
|
|
NM_001367561.1(DOCK7):c.2654G>T (p.Arg885Ile)
|
rs1645953907
|
|
NM_001367561.1(DOCK7):c.5494-4A>G
|
|
|
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
|
|
|
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)
|
rs1300927114
|
|
NM_002080.4(GOT2):c.1256G>A (p.Gly419Asp)
|
|
|
NM_002080.4(GOT2):c.233C>T (p.Pro78Leu)
|
|
|
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)
|
rs1569180071
|
|
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr)
|
rs1922155142
|
|
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu)
|
rs751782700
|
|
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys)
|
rs1400780690
|
|
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp)
|
rs766915720
|
|
NM_004341.5(CAD):c.208T>C (p.Phe70Leu)
|
rs1674954573
|
|
NM_004341.5(CAD):c.223-2A>G
|
rs1675149924
|
|
NM_004341.5(CAD):c.2401-5A>G
|
rs759687469
|
|
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val)
|
rs199990394
|
|
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu)
|
rs759380014
|
|
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
|
|
|
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
|
|
|
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
|
|
|
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala)
|
rs1984245487
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
NM_004975.4(KCNB1):c.568-12T>G
|
rs1984280025
|
|
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu)
|
rs1566446008
|
|
NM_005249.5(FOXG1):c.455G>T (p.Gly152Val)
|
rs796052460
|
|
NM_005918.4(MDH2):c.465C>G (p.Phe155Leu)
|
rs1797912166
|
|
NM_005918.4(MDH2):c.4C>G (p.Leu2Val)
|
rs1797376152
|
|
NM_006180.6(NTRK2):c.1306G>C (p.Val436Leu)
|
|
|
NM_006586.5(CNPY3):c.241G>T (p.Asp81Tyr)
|
|
|
NM_006586.5(CNPY3):c.276-32G>A
|
rs1325158416
|
|
NM_006586.5(CNPY3):c.50TGC[5] (p.Leu22_Leu25del)
|
|
|
NM_006586.5(CNPY3):c.674A>G (p.Lys225Arg)
|
rs1768399256
|
|
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly)
|
rs1060500006
|
|
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr)
|
rs1259561654
|
|
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile)
|
rs2105710443
|
|
NM_014334.3(FRRS1L):c.32C>G (p.Ala11Gly)
|
rs560644274
|
|
NM_014334.4(FRRS1L):c.-17G>C
|
rs1831566217
|
|
NM_014334.4(FRRS1L):c.269A>T (p.Asp90Val)
|
rs959347221
|
|
NM_015047.3(EMC1):c.1107C>G (p.Phe369Leu)
|
rs747996783
|
|
NM_015047.3(EMC1):c.1127A>C (p.Asn376Thr)
|
rs1558106688
|
|
NM_015047.3(EMC1):c.1666C>A (p.Leu556Met)
|
|
|
NM_015047.3(EMC1):c.2281C>A (p.Leu761Ile)
|
|
|
NM_015047.3(EMC1):c.2591G>T (p.Gly864Val)
|
rs2093425936
|
|
NM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr)
|
|
|
NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser)
|
rs1811324175
|
|
NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala)
|
rs1810887469
|
|
NM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys)
|
|
|
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser)
|
rs778097231
|
|
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln)
|
rs755135706
|
|
NM_015213.4(DENND5A):c.2189T>C (p.Ile730Thr)
|
rs1848175647
|
|
NM_015213.4(DENND5A):c.2908A>C (p.Met970Leu)
|
rs1162225544
|
|
NM_015213.4(DENND5A):c.3068A>T (p.Lys1023Ile)
|
rs372389104
|
|
NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)
|
|
|
NM_016373.4(WWOX):c.*15G>T
|
rs533890923
|
|
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
|
|
|
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter)
|
rs1890410630
|
|
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser)
|
rs1890407784
|
|
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)
|
rs1890385864
|
|
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
|
|
|
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln)
|
rs1890360315
|
|
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser)
|
rs983547801
|
|
NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met)
|
rs756040501
|
|
NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln)
|
rs2084676640
|
|
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu)
|
rs749426883
|
|
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu)
|
rs2084493674
|
|
NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu)
|
rs1600595577
|
|
NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser)
|
rs1564383774
|
|
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
|
|
|
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro)
|
rs776850213
|
|
NM_021072.4(HCN1):c.282G>A (p.Met94Ile)
|
rs748665278
|
|
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)
|
rs1469192494
|
|
NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn)
|
rs771909772
|
|
NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu)
|
rs1680922737
|
|
NM_033453.4(ITPA):c.66+3G>C
|
rs1346504214
|
|
NM_139058.3(ARX):c.771C>T (p.Arg257=)
|
rs1601948418
|
|
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser)
|
rs2048724116
|
|
NM_152268.4(PARS2):c.340G>A (p.Gly114Ser)
|
rs778638516
|
|
NM_152743.4(BRAT1):c.1031C>T (p.Thr344Met)
|
rs371239207
|
|
NM_152743.4(BRAT1):c.34C>G (p.Leu12Val)
|
rs1554298600
|
|
NM_172107.4(KCNQ2):c.1118+18C>T
|
rs2080900462
|
|
NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp)
|
rs2082239531
|
|
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu)
|
rs779904079
|
|
NM_173354.5(SIK1):c.468G>A (p.Leu156=)
|
rs2081056659
|
|
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)
|
rs1453393447
|
|
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys)
|
rs750520927
|
|
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu)
|
rs1974091514
|
|
NM_198503.5(KCNT2):c.976A>G (p.Arg326Gly)
|
rs1673813088
|
|
NM_198904.4(GABRG2):c.632-5G>A
|
rs1761614864
|
|
NM_198904.4(GABRG2):c.770-12G>A
|
rs1764615198
|
|
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr)
|
rs1485482944
|
|