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
|
|
|