ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001289.6(CLIC2):c.303C>G (p.His101Gln) rs398122917 0.00012
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu) rs767354861 0.00005
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041 0.00001
NM_002063.4(GLRA2):c.407A>G (p.Asn136Ser) rs1276905604 0.00001
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys) rs748764171 0.00001
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238 0.00001
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
GRCh37/hg19 Xq28(chrX:152372767-155233731)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
GRCh38/hg38 Xq28(chrX:153905292-154361918)
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
NC_000023.10:g.(?_117629935)_(119761021_?)del
NC_000023.10:g.(?_128674417)_(129299630_?)del
NC_000023.10:g.(?_128946967)_(128948896_?)del
NC_000023.10:g.(?_133511648)_(133559360_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153592874)_(153593874_?)del
NC_000023.10:g.(?_153595748)_(153596947_?)del
NC_000023.10:g.(?_153599231)_(153609567_?)del
NC_000023.10:g.(?_20173516)_(20174387_?)del
NC_000023.10:g.(?_20204394)_(20206108_?)del
NC_000023.10:g.(?_46466387)_(47489243_?)del
NC_000023.10:g.(?_70337406)_(70363304_?)del
NC_000023.10:g.(?_76759356)_(77042755_?)del
NC_000023.10:g.(?_76763809)_(77041507_?)del
NC_000023.10:g.(?_76763829)_(76776414_?)del
NC_000023.10:g.(?_76937002)_(76940508_?)del
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_99551255)_(99905882_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NC_000023.10:g.(?_99551275)_(100099087_?)del
NC_000023.10:g.(?_99551275)_(99605722_?)del
NC_000023.10:g.(?_99596881)_(99597093_?)del
NC_000023.10:g.(?_99596891)_(99597083_?)del
NC_000023.10:g.(?_99605624)_(99605722_?)del
NC_000023.10:g.(?_99657775)_(99662816_?)del
NC_000023.10:g.14693216_14836199del
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NC_000023.11:g.(?_123184278)_(123490915_?)del
NC_000023.11:g.155264167_155265545del
NC_000023.11:g.68119248_68212212dup
NEXMIF, 70-KB DUP
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NG_011641.2:g.(108110_108560)_(109645_112963)del
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
NM_000489.6(ATRX):c.134-4884_242+41del
NM_000489.6(ATRX):c.158del (p.Asn53fs) rs2148685852
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter) rs1557140492
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
NM_000489.6(ATRX):c.2678dup (p.Thr894fs) rs2148591494
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter) rs2070037318
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) rs2070034528
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.6(ATRX):c.4558-3T>G rs1602996115
NM_000489.6(ATRX):c.477del (p.Lys159fs) rs1603240572
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.6(ATRX):c.5273-10T>A rs2148261114
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) rs1557041077
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.6(ATRX):c.7205del (p.Ile2402fs) rs1569513017
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu) rs2148637532
NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter) rs2080114203
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) rs1057518730
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs) rs2080113065
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs) rs2080111520
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter) rs2147440717
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2667G>A (p.Trp889Ter)
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs) rs2080105696
NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter) rs2147440006
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter) rs2080104580
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter) rs2147439880
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter) rs2080102486
NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter) rs2080118279
NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter) rs2080101717
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs) rs2147439375
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter) rs1181632862
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) rs1057518728
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs) rs2147441408
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter) rs2080115999
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.2(PHF6):c.139-8A>G rs771399346
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001015877.2(PHF6):c.27dup (p.Gly10fs) rs758791658
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)
NM_001015877.2(PHF6):c.415G>T (p.Glu139Ter) rs770811341
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_001015877.2(PHF6):c.585+1G>A rs2077460481
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.2(PHF6):c.743G>T (p.Gly248Val)
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.829del (p.Arg277fs) rs2077467552
NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe)
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs) rs2147468376
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_001032382.2(PQBP1):c.292+1G>A rs2147472456
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs) rs2147475642
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs) rs1602332039
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs) rs2147080697
NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs) rs2147080766
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) rs869025590
NM_001039591.3(USP9X):c.3028-2A>G rs869025589
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
NM_001039591.3(USP9X):c.44del (p.Asn15fs) rs1555917927
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs) rs1555930128
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter) rs2062209732
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) rs2063238551
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001039591.3(USP9X):c.6679_6685delinsTCCTG (p.Lys2227_Tyr2229delinsSerTer) rs2147262405
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs) rs2147266578
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter) rs121434616
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs) rs1556206910
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys) rs121434615
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs) rs1057519396
NM_001079872.2(CUL4B):c.1852+1G>T rs797044862
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)
NM_001079872.2(CUL4B):c.516del (p.Lys172fs)
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter) rs1556220623
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met) rs1379343211
NM_001079872.2(CUL4B):c.847-2A>G rs786200913
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) rs2067763458
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) rs1557179325
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) rs2067761804
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs) rs2148118072
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs) rs1603362871
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) rs2067760741
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter) rs1447594194
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) rs2148116288
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) rs2067741257
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs) rs863223630
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs) rs2148115776
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) rs2067723474
NM_001110556.2(FLNA):c.2452del (p.Ala818fs) rs1603361851
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs) rs2148114051
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.2947dup (p.Val983fs) rs2148113628
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs) rs2148113604
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter) rs1557178045
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) rs1603361195
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) rs2148121859
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) rs2067693064
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter) rs1557177663
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs) rs2148111417
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs) rs2148111202
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter) rs186214592
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) rs781789823
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs) rs1557176615
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) rs1359141531
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter) rs2148119354
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) rs1603359464
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter) rs2148104651
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs) rs2148104615
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
NM_001110556.2(FLNA):c.656del (p.Ser219fs) rs2148119182
NM_001110556.2(FLNA):c.6586del (p.His2196fs) rs2067626336
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs) rs2148103917
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter) rs2148103458
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs) rs2148103004
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs) rs2148101228
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) rs2067602034
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?) rs863223636
NM_001110556.2(FLNA):c.812del (p.Pro271fs) rs2148118964
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer) rs2148118942
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.112del (p.Leu38fs) rs61754426
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1147dup (p.His383fs) rs1057519404
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) rs267608590
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) rs2148770984
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) rs2148663602
NM_001110792.2(MECP2):c.642del (p.Thr215fs) rs2148663473
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) rs2148661952
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly) rs2147539926
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) rs2147539848
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro) rs1928407939
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His) rs1928407149
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs)
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs) rs1928406047
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs) rs1928405402
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) rs1928405180
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) rs1928405180
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter) rs2147539395
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter) rs2147539378
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter) rs2147539361
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys) rs796052813
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter)
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met) rs764650219
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter) rs1928398128
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp) rs2147539047
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn) rs1569314809
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1353del (p.His452fs) rs2147539018
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs) rs2147538939
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter) rs2147538918
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer) rs2147538910
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs) rs1928388987
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs) rs2147538807
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs) rs2147538796
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs) rs2147538759
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs)
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs) rs1928383528
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs) rs2147538605
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs) rs1928375176
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs) rs1928374520
NM_001184880.2(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs) rs2147538169
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu) rs796052819
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser) rs1928370474
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) rs1928369132
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) rs749662385
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs) rs2147537854
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs) rs1928359639
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) rs1928355133
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs) rs2147537315
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter) rs1928350631
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter) rs1928349391
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001184880.2(PCDH19):c.2147+1G>T rs1555984947
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter) rs2147534335
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter) rs1471944316
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter) rs2147533439
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs) rs2147533347
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
NM_001184880.2(PCDH19):c.244dup (p.Val82fs) rs1928471120
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs) rs1928224021
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs) rs2147533148
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) rs1928217668
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) rs1928217378
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs) rs2147533042
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) rs1928216298
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter) rs2147532974
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)
NM_001184880.2(PCDH19):c.2617-1G>A rs1602600561
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs) rs2147492697
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) rs770935301
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2662dup (p.His888fs) rs2147492627
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.2676-6A>G rs1602595136
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter) rs1926264984
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter) rs2147485040
NM_001184880.2(PCDH19):c.2848+1G>A
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs) rs2147542264
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs) rs2147542217
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) rs1602566823
NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs)
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala) rs1928463633
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs) rs1928462092
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile) rs2147543046
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter) rs759398718
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser) rs1928459143
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs) rs1928457666
NM_001184880.2(PCDH19):c.476del (p.Gly159fs) rs1928457396
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001184880.2(PCDH19):c.506del (p.Thr169fs) rs2147541704
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter) rs1928454112
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter) rs2147542870
NM_001184880.2(PCDH19):c.533del (p.Ile178fs) rs1928452385
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) rs1602637774
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs) rs2147542837
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
NM_001184880.2(PCDH19):c.564del (p.Glu189fs) rs1928449770
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter) rs2147541401
NM_001184880.2(PCDH19):c.581del (p.Lys194fs) rs1928448324
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly) rs2147541373
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.615del (p.Phe206fs) rs1928445406
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu) rs2147541121
NM_001184880.2(PCDH19):c.659del (p.Gly220fs) rs1928441222
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) rs1602637452
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter) rs1928440191
NM_001184880.2(PCDH19):c.687del (p.Asp230fs) rs1928439511
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn) rs1928439241
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr) rs1555985475
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) rs1928437614
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.714del (p.Phe238fs) rs2147540836
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly) rs2147540751
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs) rs2147540522
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs) rs1928426655
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) rs1928424443
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs) rs2147540431
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs) rs2147540245
NM_001184880.2(PCDH19):c.883del (p.Ser295fs) rs2147540261
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs) rs2147542719
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter) rs2147540086
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr) rs2147540049
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter) rs1928479952
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001272071.2(AP1S2):c.1-2A>G rs1934209113
NM_001272071.2(AP1S2):c.1-3C>A rs1060499672
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001272071.2(AP1S2):c.180-5_180-2del rs587776738
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_001272071.2(AP1S2):c.281del (p.Phe94fs) rs1555904182
NM_001272071.2(AP1S2):c.288+1G>A
NM_001272071.2(AP1S2):c.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) rs1569271378
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) rs1569271892
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) rs1569350993
NM_001330360.2(POLA1):c.463-2A>T rs2148341850
NM_001330360.2(POLA1):c.525+1G>A rs1569277899
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter) rs2147218558
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.582+1G>A rs1569476483
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) rs1569458475
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter) rs2147307979
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) rs2050112328
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs) rs2147266023
NM_001356.5(DDX3X):c.1025+1G>A rs2147354193
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly) rs1602134248
NM_001356.5(DDX3X):c.1171-1G>C rs1602134459
NM_001356.5(DDX3X):c.1171-2A>G rs2147356545
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs) rs2147356679
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs) rs2147356723
NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter) rs2147356745
NM_001356.5(DDX3X):c.1316-2A>G rs1602135698
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer) rs2063923605
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs) rs2147358635
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp) rs2063923749
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro) rs796052235
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu) rs2063927503
NM_001356.5(DDX3X):c.152-1G>A rs1131691769
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly) rs1555954284
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter) rs2147360033
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter) rs2063933550
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter) rs2147348697
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.255del (p.Phe85fs) rs1131691299
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) rs1602127262
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs) rs1057518171
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.641_643del (p.Ile214del) rs2063876114
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter) rs2063876197
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg) rs2063876594
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001356.5(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter) rs2063889019
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs) rs1602131859
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter) rs2147353543
NM_001356.5(DDX3X):c.865-2A>G
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001356.5(DDX3X):c.930dup (p.Arg311fs) rs2147353994
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs) rs1602119305
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter) rs1556254569
NM_001367721.1(CASK):c.1315-7A>G rs1555986221
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) rs1602292205
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) rs1569306724
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) rs587783357
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) rs1555980033
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001367721.1(CASK):c.1981del (p.Leu661fs) rs797045431
NM_001367721.1(CASK):c.1997dup (p.Asn666fs) rs1602253464
NM_001367721.1(CASK):c.2039+1G>A rs2147138207
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) rs587783362
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_001367721.1(CASK):c.2317+1G>A rs1555975458
NM_001367721.1(CASK):c.2318-2A>G rs863224854
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) rs749742837
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn) rs1602220170
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) rs587783364
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs) rs797045433
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) rs1555972628
NM_001367721.1(CASK):c.2604+1G>T rs1555972599
NM_001367721.1(CASK):c.278+2_278+3del
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_001367721.1(CASK):c.430-2A>T rs587783366
NM_001367721.1(CASK):c.533-2A>G rs1569380062
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_001367721.1(CASK):c.68del (p.Phe23fs) rs1135401762
NM_001367721.1(CASK):c.708+1G>A rs587783368
NM_001367721.1(CASK):c.774_780del (p.Met258fs) rs1602424869
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter) rs1602424764
NM_001367721.1(CASK):c.825G>A (p.Trp275Ter) rs2147465256
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) rs587783371
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001367721.1(CASK):c.915G>A (p.Lys305=) rs387906499
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser) rs2147131515
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr) rs886040855
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met) rs886040856
NM_001551.3(IGBP1):c.-57_-55delinsAA rs2147562704
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter) rs2147167432
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) rs1569231897
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) rs1923775114
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) rs1569230006
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter) rs2147179499
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)
NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu) rs761094724
NM_002063.4(GLRA2):c.458G>A (p.Arg153Gln) rs2147065620
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002547.2(OPHN1):c.313_326del
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) rs1569215382
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp) rs2147627388
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.3(OPHN1):c.2159-1G>C rs2147349266
NM_002547.3(OPHN1):c.384+1G>A rs2147594453
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_002547.3(OPHN1):c.644_645del (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln) rs387906728
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter) rs104894952
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) rs387906701
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) rs863225427
NM_003491.4(NAA10):c.16G>C (p.Ala6Pro) rs2148537138
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) rs2065171820
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.332T>G (p.Val111Gly) rs1557107528
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_003491.4(NAA10):c.386A>C (p.Gln129Pro) rs2065169457
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003491.4(NAA10):c.455_458del (p.Thr152fs) rs2148534324
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003491.4(NAA10):c.472-2A>C rs2065158556
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003491.4(NAA10):c.494_495del (p.Lys165fs) rs1569546255
NM_003688.3:c.116_117delCA
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.12dup (p.Ser5fs) rs2146978931
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs) rs2146919819
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter) rs2146852767
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2517_2622del rs2146844343
NM_004187.5(KDM5C):c.2622+2dup rs1057519393
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter) rs2146837810
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs) rs1934751829
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter) rs1934657828
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs) rs1060499661
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832
NM_004586.3(RPS6KA3):c.1000-2A>G rs2148664125
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) rs2148662359
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) rs1603420690
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
NM_004586.3(RPS6KA3):c.1602+2dup
NM_004586.3(RPS6KA3):c.1765-2A>C rs2067343280
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer) rs1569190602
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
NM_004586.3(RPS6KA3):c.2101-2A>G
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs) rs2148622591
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) rs1603417213
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs) rs1603417191
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer) rs2148721944
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) rs1555943479
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.407-1G>T
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter) rs2148701884
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_004586.3(RPS6KA3):c.486+3A>G rs1603426293
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.593+2_593+5del rs1555942692
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.632-2A>C rs2148686736
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter) rs1603425345
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs) rs2148686409
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs) rs2148686334
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004586.3(RPS6KA3):c.845+5G>A
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter) rs1603422409
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.608G>A (p.Gly203Asp) rs1924650670
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) rs397515553
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val) rs2033670961
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn) rs2148276174
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.2866G>C (p.Asp956His) rs864321631
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) rs1569301036
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His) rs2148488251
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His) rs1602624914
NM_005120.3(MED12):c.1924_1974+17dup
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.301-11_301-10del rs1926795050
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) rs397518480
NM_006013.5(RPL10):c.191C>T (p.Ala64Val) rs1131692042
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006013.5(RPL10):c.481G>A (p.Gly161Ser) rs1131692041
NM_006517.5(SLC16A2):c.-6_430+5del rs2147833779
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter) rs1380635081
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.5(SLC16A2):c.1170+4_1170+7del rs1555989846
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) rs1569281085
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) rs1602140936
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter) rs1930398120
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs) rs2147870614
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter) rs1930463806
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) rs2147777346
NM_006521.6(TFE3):c.356A>C (p.Gln119Pro) rs2147777343
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
NM_006521.6(TFE3):c.559A>G (p.Thr187Ala) rs2147776463
NM_006521.6(TFE3):c.560C>A (p.Thr187Lys)
NM_006521.6(TFE3):c.560C>G (p.Thr187Arg) rs2064742925
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006521.6(TFE3):c.602A>C (p.Gln201Pro) rs2147776381
NM_006521.6(TFE3):c.780+1G>A rs2147776168
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
NM_006950.3(SYN1):c.122del (p.Gly41fs) rs2147933505
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs) rs2147912678
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1385dup (p.Pro463fs) rs2147912440
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) rs1603050544
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1682dup (p.Gln562fs) rs2147912165
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs) rs2147912005
NM_006950.3(SYN1):c.248_264del (p.Ala83fs) rs2057941229
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.433_434del (p.Gln145fs) rs2147928664
NM_006950.3(SYN1):c.527+1G>T
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs) rs2147384890
NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val) rs140908982
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) rs587777361
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) rs137852351
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) rs1135401788
NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys) rs2147401116
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) rs137852352
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) rs137852350
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) rs139990565
NM_007363.5(NONO):c.107del (p.Pro36fs) rs1602385860
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter) rs869025345
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_007363.5(NONO):c.1171+1G>T rs876661316
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys) rs1114167441
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_007363.5(NONO):c.154+1GT[2]
NM_007363.5(NONO):c.201_202dup (p.Lys68fs) rs2148033408
NM_007363.5(NONO):c.279_282del (p.Phe94fs) rs2148033495
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
NM_007363.5(NONO):c.457C>T (p.Arg153Ter) rs2031389522
NM_007363.5(NONO):c.550C>T (p.Arg184Ter) rs1602387702
NM_007363.5(NONO):c.731dup (p.Asn244fs) rs1555950011
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter) rs2147123782
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) rs1569261319
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) rs2092480172
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
NM_014927.5(CNKSR2):c.2041C>T (p.Gln681Ter) rs2147268813
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter) rs2147283343
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) rs606231282
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs) rs2147143428
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_015107.3(PHF8):c.377del (p.Leu126fs) rs1057518729
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) rs121918523
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) rs121918522
NM_015107.3(PHF8):c.738dup (p.His247fs)
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) rs121918524
NM_015107.3(PHF8):c.943_946+8del
NM_016032.4(ZDHHC9):c.167+5G>C rs606231183
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs) rs606231182
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_016032.4(ZDHHC9):c.361C>T (p.Arg121Ter)
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser) rs137852215
NM_016937.3(POLA1):c.445_507del rs1569277866
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) rs782191163
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu) rs1555988417
NM_020922.5(WNK3):c.1089+1G>A
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr) rs1603379772
NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln) rs1603379318
NM_024528.4(NKAP):c.961A>G (p.Met321Val) rs2147845271
NM_024528.4(NKAP):c.988C>T (p.Arg330Cys) rs1603379781
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly) rs1173514495
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln) rs1569399945
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.7(HUWE1):c.145-2A>G rs1569509136
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.567+1G>C rs1557024919
NM_031407.7(HUWE1):c.646-1G>A rs2149065229
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs) rs2147783395
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.1351del (p.Arg451fs) rs1556377028
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter) rs2147787331
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs) rs1064794254
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185
NM_139058.3(ARX):c.26dup (p.Cys10fs) rs2147325489
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_203475.3(PORCN):c.1023+2T>A rs1556975151
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) rs587776737
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) rs2061714949
NM_203475.3(PORCN):c.137-1G>C
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) rs1602070472
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NM_203475.3(PORCN):c.374-2A>G rs2147123496
NM_203475.3(PORCN):c.49_80del (p.Cys17fs) rs2061661681
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter) rs2061661896
NM_203475.3(PORCN):c.846-2A>G
NM_203475.3(PORCN):c.946+2_946+3del rs2147131642
RPS6KA3, 187-BP DEL, NT406
Single allele
t(X;3)(q13.3;q11.2)dn

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