ClinVar Miner

List of variants studied for X-linked disease by OMIM

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1589
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HGVS dbSNP
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
AFF2, 121- to 145-KB DEL
AJ298105.1:g.61273_107768delins6086
ARHGEF6, IVS1AS, T-C, -11
ARX, 32-BP DEL, NT420
ARX, ARG2085HIS
ARX, EX1-2DEL
ATP7A, EX3-4 DEL
ATRX, IVSAS, T-A, -10
AVPR2, 1-BP INS
AVPR2, 1-BP INS, 804G
BCOR, 60-KB DEL
BCOR, EX9-15DEL
CACNA1F, 1-BP DEL, 4548C
CACNA1F, 1-BP INS, 991C
CD40LG, 1-BP INS, TTT-TTTT, FS84TER
CD40LG, 10-BP DEL
CD40LG, 63-BP DEL
CD40LG, 8-BP DEL
CD40LG, ALU INS, EX1
CD40LG, THR211ASP
CDKL5, 1-BP DEL, 183T
CDKL5, 2-BP DEL, 2636CT
CDKL5, 4-BP DEL, 166GAAA
CDKL5, IVS6AS, G-T, -1
CDKL5, IVSAS13, G-A, -1
CHM, 1-BP DEL, GGA146GA, FS159TER
CHM, L1 INS
CLCN4, 13-BP DEL
CLCN4, ARG718TRP
COL4A5, 10-15-KB INS, 40-KB DEL
COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION
COL4A5, 38-KB DEL
COL4A5, 450-KB DEL
COL4A5, CYS108SER
COL4A5, EX5-10DEL
DCX, IVS4, G-A, +1
DLAT, 3-BP DEL, 361GAA
DLG3, IVS6DS, G-A, +5
DLG3, IVS8DS, G-A, +1
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
EFNB1, EX2-5DEL
EMD, 1-BP DEL, FS236TER
EMD, 2-BP DEL, NT564
EMD, 2-BP INS, NT198
EMD, 29-BP DEL, NT113
EMD, 5-BP DEL, NT631
EMD, IVSAS, A-G, -3, 214-BP INS
F8, 1-BP DEL
F8, 1-BP INS, A
F8, 1-BP INS, A, CODON 1414
F8, 10-BP INS, FS
F8, 11-BP DEL, FS
F8, 2-BP DEL, EX8
F8, 2-BP DEL, GA
F8, 2-BP, INS, FS
F8, 23-BP DEL, FS
F8, 3-BP DEL, PHE652DEL
F8, 3-BP DEL, PRO220 DEL
F8, 89-BP DEL, FS
F8, ALU INS
F8, EX1-22DEL
F8, EX1-26DEL
F8, EX1-5DEL
F8, EX1-6DEL
F8, EX10DEL
F8, EX11-18DEL
F8, EX13DUP
F8, EX14-21DEL
F8, EX14-22DEL
F8, EX14DEL
F8, EX15-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX16-26DEL
F8, EX16DEL
F8, EX18-19DEL
F8, EX19-21DEL
F8, EX1DEL
F8, EX2-3DEL
F8, EX2-4DEL
F8, EX22DEL
F8, EX23-24DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX24-25DEL
F8, EX26DEL
F8, EX3-13DEL
F8, EX3-5DEL
F8, EX3DEL
F8, EX4-10DEL
F8, EX4-25DEL
F8, EX5-13DEL
F8, EX5-6 DEL
F8, EX5DEL
F8, EX6DEL
F8, EX7-14DEL
F8, EX7-9DEL
F8, GLU161TER
F8, IVS10AS, G-T, +1
F8, IVS12DS, G-A, +5
F8, IVS14AS, A-G, -2
F8, IVS16DS, G-A, -1
F8, IVS22 INV
F8, IVS4AS, A-G, -2
F8, IVS5AS, A-G, -2
F8, IVS6AS, G-C, -1
F8, IVS6DS, A-G, +3
F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL
F8, LINE INS, EX14
FGD1, 1-BP DEL, 2189A
FGD1, 1-BP INS, 2122G
FGD1, EX9-12DEL
FMR1, (CGG)n REPEAT EXPANSION
FOXG1, 1-BP DEL, 969C
FOXG1, 1-BP DUP, 460G
FTSJ1, EX9DEL
FTSJ1, IVS2, G DEL, +1
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GPR143, 14-BP DEL, NT816
GPR143, 17-BP DEL
GPR143, 2-BP INS, NT992
GPR143, 420G-A
GRIA3, 0.4-MB DEL
HCCS, 8.6-KB DEL
HPRT CHERMSIDE
HPRT CHICAGO
HPRT CONNERSVILLE
HPRT COORPAROO
HPRT MICHIGAN
HPRT, 1-BP DEL, TTA-TA
HPRT, 1-BP DEL, TTG-TG
HPRT, 13-BP DEL, 5-PRIME UTR
HPRT, 2-BP DEL, GT
HPRT, 40-BP DEL
HPRT, DEL
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX2DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
HPRT,1-BP INS, 207G
IGBP1, -57delT and -55T-A, 5-PRIME UTR
IL1RAPL1, EX2-5DEL
KLHL15, 1-BP DEL
KLHL15, 22.5-KB DEL
L1CAM, 1.3-KB DUP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
LAS1L, ALA269GLY
LAS1L, ARG415TRP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
MID1, 24-BP DUP
MID1, EX1 DUP
NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NC_000023.10:g.(?_128946967)_(128948896_?)del
NC_000023.10:g.12515801_12581900del
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_000023.11:g.(?_149478764)_(149505354_?)del
NC_000023.11:g.(?_40051246)_(40075180_?)del
NC_000023.9:g.9688757-?_9693917+?del
NDP, 1-BP DEL
NEXMIF, 70-KB DUP
NG_008292.1:g.700375-?_1335033+?del
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_008960.1:g.224486-?_245539+?del
NG_009095.2:g.(16929_16947)_(21383_21401)del
NG_013368.1:g.5604_20276del
NG_016754.1:g.5000-?_5105+?del
NM_000032.4(ALAS2):c.-258C>G rs140772352
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) rs387906472
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000032.5(ALAS2):c.895A>C (p.Lys299Gln) rs137852303
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000047.2(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser) rs28935474
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000047.2(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.2(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.2(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.6(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.6(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.6(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) rs28935496
NM_000054.6(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.6(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.6(AVPR2):c.410G>A (p.Arg137His) rs104894756
NM_000054.6(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.6(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.6(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.6(AVPR2):c.738del (p.Arg247fs) rs781942628
NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000117.2(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.2(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000132.3(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.3(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.3(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.3(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.3(F8):c.1063C>T (p.Arg355Ter) rs137852368
NM_000132.3(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.3(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.3(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.3(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.3(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.3(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.3(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.3(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.3(F8):c.121G>T (p.Gly41Cys) rs137852379
NM_000132.3(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.3(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.3(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.3(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.3(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.3(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.3(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.3(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.3(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.3(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.3(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1648C>T (p.Arg550Cys) rs137852417
NM_000132.3(F8):c.1649G>A (p.Arg550His) rs137852418
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.3(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.3(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.3(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.3(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.3(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.3(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.3(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.3(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.3(F8):c.1834C>T (p.Arg612Cys) rs137852428
NM_000132.3(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.3(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.3(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.3(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.3(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.3(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.3(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.3(F8):c.2113+461_2113+473del rs781928603
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
NM_000132.3(F8):c.2167G>A (p.Ala723Thr) rs137852436
NM_000132.3(F8):c.2215G>A (p.Glu739Lys) rs28937285
NM_000132.3(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.3(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.3(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.3(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.3(F8):c.2958_2959AG[2] (p.Ser988fs) rs387906448
NM_000132.3(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.3(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.3(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.3(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.3(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.3(F8):c.362_363GT[1] (p.Val122fs) rs387906435
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.3(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.3(F8):c.396A>C (p.Glu132Asp) rs137852388
NM_000132.3(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.3(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.3(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.3(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.3(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.3(F8):c.4324_4327AAGA[1] (p.Lys1443fs) rs387906454
NM_000132.3(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.3(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.3(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.3(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.3(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.3(F8):c.493C>T (p.Pro165Ser) rs137852393
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) rs28935203
NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) rs111033613
NM_000132.3(F8):c.5123G>A (p.Arg1708His) rs111033614
NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.3(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.3(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.3(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.3(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) rs137852443
NM_000132.3(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.3(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.3(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.3(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.3(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.3(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.3(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.3(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.3(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.3(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.3(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.3(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.3(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.3(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.3(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.3(F8):c.601+1632G>A rs387906429
NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.3(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.3(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.3(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) rs137852459
NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.3(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.3(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.3(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) rs137852467
NM_000132.3(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.3(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.3(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.3(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.3(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.3(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.3(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.3(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.3(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) rs137852374
NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) rs137852473
NM_000132.3(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) rs137852360
NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.3(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.3(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.3(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.3(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.3(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.3(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.3(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.3(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.3(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.3(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.3(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.3(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.3(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.3(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.3(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.3(F8):c.940A>G (p.Thr314Ala) rs137852406
NM_000132.3(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.3(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.3(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.3(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000194.2(HPRT1):c.-707_27+2236del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) rs137852498
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) rs267606863
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) rs137852491
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) rs137852506
NM_000194.3(HPRT1):c.28-2A>T rs1569354918
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) rs137852496
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) rs137852493
NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) rs137852492
NM_000194.3(HPRT1):c.532+5G>A rs1569360089
NM_000194.3(HPRT1):c.609+5G>A rs1569360139
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT rs672601245
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.3(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_000240.3(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.3(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.141_144del (p.Glu48fs) rs587783791
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.4(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.4(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.4(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.4(NDP):c.328T>G (p.Cys110Gly) rs104894876
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.362G>T (p.Arg121Leu) rs137852220
NM_000266.4(NDP):c.370C>T (p.Leu124Phe) rs28933684
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) rs606231191
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1163_1166CAGT[1] (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) rs267606974
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) rs104894924
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923
NM_000328.3(RPGR):c.1905+1024G>T rs137852551
NM_000328.3(RPGR):c.1905+1187_1905+1188del rs606231181
NM_000328.3(RPGR):c.1905+1191_1905+1192del rs606231180
NM_000328.3(RPGR):c.1905+942_1905+943inv
NM_000330.3(RS1):c.38T>C (p.Leu13Pro) rs104894935
NM_000351.6(STS):c.1022C>T (p.Ser341Leu) rs137853167
NM_000351.6(STS):c.1114T>A (p.Trp372Arg) rs137853165
NM_000351.6(STS):c.1115G>C (p.Trp372Ser) rs137853168
NM_000351.6(STS):c.1256+1G>T rs1601748137
NM_000351.6(STS):c.1331A>G (p.His444Arg) rs137853169
NM_000351.6(STS):c.1337G>A (p.Cys446Tyr) rs137853166
NM_000377.2(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.2(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.2(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.2(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.2(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.2(WAS):c.257G>T (p.Arg86Leu) rs132630268
NM_000377.2(WAS):c.395_400dup rs587776743
NM_000377.2(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.2(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.849+1268G>T rs919011936
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) rs1569269179
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.6(OTC):c.217-1G>A rs72554327
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.6(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.387-2A>T rs66556380
NM_000531.6(OTC):c.403del (p.Ala135fs) rs72556255
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.717+2T>C rs72558431
NM_000531.6(OTC):c.717+3A>G rs72558432
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.467C>T (p.Thr156Ile) rs132630280
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.544A>C (p.Thr182Pro) rs132630282
NM_000533.5(PLP1):c.607G>C (p.Asp203His) rs132630284
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
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.27dup (p.Gly10fs) rs758791658
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
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.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) rs28935476
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_001037811.2(HSD17B10):c.568+6C>A rs122462164
NM_001037811.2(HSD17B10):c.607A>G (p.Lys203Glu) rs886041974
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) rs122461163
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) rs62626305
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
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.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) rs587777317
NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) rs587777318
NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) rs122461162
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042537.1(SLC9A6):c.603+3_603+4delinsCC rs730882187
NM_001042537.1(SLC9A6):c.608_609del (p.His203fs) rs730882188
NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del) rs886037619
NM_001077188.2(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041
NM_001077269.1(WIPF1):c.1301C>G (p.Ser434Ter) rs1574785867
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
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_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456
NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) rs1318084629
NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) rs1598367619
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) rs28935471
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
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.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) rs137853318
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) rs267608434
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
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.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) rs267608524
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.952C>T (p.Arg318Cys) rs28935468
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) rs267607188
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) rs267607189
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) rs875989799
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001123385.2(BCOR):c.2484_2485AG[2] (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) rs730880013
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) rs1602131169
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) rs1602124517
NM_001123385.2(BCOR):c.4174-1G>T rs1569146193
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) rs730880034
NM_001123385.2(BCOR):c.4742-141_4977-665del
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001145073.3(USP27X):c.1026_1030del (p.Ser342fs) rs886038210
NM_001145073.3(USP27X):c.1141T>C (p.Tyr381His) rs886038211
NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) rs122453121
NM_001164619.2(GPC3):c.175+32082_175+32094del rs869025181
NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.3(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) rs387907301
NM_001167.3(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.3(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001169122.1(AFF2):c.-460_-458GCC(6_25)
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001195553.2(DCX):c.139A>C (p.Ser47Arg) rs104894783
NM_001195553.2(DCX):c.176G>T (p.Arg59Leu) rs122457137
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) rs104894786
NM_001195553.2(DCX):c.373T>C (p.Tyr125His) rs104894781
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) rs104894780
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372
NM_001195553.2(DCX):c.608C>G (p.Thr203Arg) rs104894782
NM_001195553.2(DCX):c.682_683CT[1] (p.Tyr229fs) rs1556401744
NM_001204402.1(PRPS1):c.-159T>C rs869025594
NM_001204402.1(PRPS1):c.-34C>G rs137852545
NM_001204402.1(PRPS1):c.-44C>T rs137852544
NM_001204402.1(PRPS1):c.-66G>C rs137852541
NM_001204402.1(PRPS1):c.-82-2793G>C rs398122855
NM_001204402.1(PRPS1):c.-82-4197C>A rs137852543
NM_001204402.1(PRPS1):c.-82-4220C>G rs587777150
NM_001204402.1(PRPS1):c.-82-5746G>A rs180177152
NM_001204402.1(PRPS1):c.-82-5812G>A rs180177151
NM_001204402.1(PRPS1):c.-82-5851G>C rs137852542
NM_001243197.1(IQSEC2):c.123-2226_*20117dup
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
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.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) rs879253714
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001289.6(CLIC2):c.303C>G (p.His101Gln) rs398122917
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu) rs122458139
NM_001318510.2(ACSL4):c.1003-2A>G rs1569423317
NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser) rs122458138
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.900_901GA[3] (p.Leu302fs) rs267608546
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.525+1G>A rs1569277899
NM_001330574.2(ZNF711):c.2263_2264TG[1] (p.Cys755_Glu756delinsTer) rs1603009115
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_001350393.1(TMEM126B):c.172+103G>A rs573006534
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.4(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer)
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu)
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656
NM_001356.5(DDX3X):c.589del (p.Thr198fs)
NM_001356.5(DDX3X):c.641_643del (p.Ile214del)
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.16+592C>G rs1603429348
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) rs132630318
NM_001399.5(EDA):c.187G>A (p.Glu63Lys) rs132630311
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.910_911TA[3] (p.Ser305fs) rs1569406514
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_001493.3(GDI1):c.1184_1185AG[1] (p.Ser396fs) rs398122814
NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro) rs121434609
NM_001493.3(GDI1):c.208C>T (p.Arg70Ter) rs121434608
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) rs121434607
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del) rs1556181091
NM_001555.5(IGSF1):c.2233del (p.Glu745fs) rs398122920
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs) rs1603404421
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro) rs1603404413
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe) rs397514622
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter) rs398122919
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs) rs398122921
NM_001711.6(BGN):c.439A>G (p.Lys147Glu) rs879255604
NM_001711.6(BGN):c.776G>T (p.Gly259Val) rs879255605
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.2191G>C (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) rs1569230006
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) rs397514585
NM_001866.3(COX7B):c.196del (p.Leu66fs) rs397514583
NM_001866.3(COX7B):c.41-2A>G rs397514584
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_002024.5(FMR1):c.52-1_52delinsTA rs1557176576
NM_002024.6(FMR1):c.373del (p.Thr125fs) rs1569545562
NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) rs1569545382
NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) rs121434622
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002351.4(SH2D1A):c.-10C>T rs1603236465
NM_002351.4(SH2D1A):c.137+5G>C rs587777612
NM_002351.4(SH2D1A):c.138-1G>T rs1603238847
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.4(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.4(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.4(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
NM_002488.4(NDUFA2):c.208+5G>A rs1168752295
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) rs781099275
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) rs1023075742
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002495.4(NDUFS4):c.99-1G>A rs376281345
NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln) rs397514618
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679
NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) rs121912639
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) rs111033588
NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp) rs397514617
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.3(OPHN1):c.642_643TG[1] (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) rs121434613
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) rs121434611
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) rs121434614
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) rs121434612
NM_002578.5(PAK3):c.276+4A>G rs1569398769
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_003159.2(CDKL5):c.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2714-3995A>G rs104894929
NM_003159.2(CDKL5):c.2797+1102C>G rs104894934
NM_003159.2(CDKL5):c.2797+1122C>T rs61752068
NM_003159.2(CDKL5):c.2797+1123G>A rs61752067
NM_003159.2(CDKL5):c.2797+1141A>G rs61752063
NM_003159.2(CDKL5):c.2797+1206C>A rs104894933
NM_003159.2(CDKL5):c.2797+1211C>G rs104894932
NM_003159.2(CDKL5):c.2797+1213C>T rs104894928
NM_003179.2(SYP):c.649G>C (p.Gly217Arg) rs137852561
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln) rs387906728
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter) rs104894952
NM_003413.4(ZIC3):c.163_165GCC[3] (p.Ala54_Ala55dup) rs398122850
NM_003477.3(PDHX):c.1024-1G>A rs724159830
NM_003477.3(PDHX):c.1183-3088_1247+760del
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.620del (p.Pro207fs) rs724159979
NM_003477.3(PDHX):c.641+1G>A rs724159829
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941
NM_003477.3(PDHX):c.88_91del (p.Lys30fs) rs724159828
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) rs1554989996
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.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) rs121434616
NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) rs869320682
NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) rs121434615
NM_003588.3(CUL4B):c.1906+1G>T rs797044862
NM_003588.3(CUL4B):c.901-2A>G rs786200913
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003688.3(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_003688.3(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_003688.3(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_003688.3(CASK):c.915G>A (p.Lys305=) rs387906499
NM_004085.4(TIMM8A):c.116del (p.Met39fs) rs869320664
NM_004085.4(TIMM8A):c.127del (p.Cys43fs) rs869320667
NM_004085.4(TIMM8A):c.133-23A>C rs869320666
NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs) rs869320733
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter) rs1054894
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter) rs111033631
NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer) rs869320665
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
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.2296C>T (p.Arg766Trp) rs199422238
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) rs1603227409
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) rs1603224817
NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) rs104894802
NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) rs104894803
NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) rs28936070
NM_004429.4(EFNB1):c.472A>G (p.Met158Val) rs28936071
NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) rs28935170
NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) rs587777109
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1292+1G>T rs869025182
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.337+1G>A rs869025183
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) rs104894854
NM_004541.4(NDUFA1):c.111G>C (p.Arg37Ser) rs104894885
NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg) rs104894884
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val) rs387906872
NM_004544.4(NDUFA10):c.384_385insAAT (p.Tyr129_Arg130insAsn) rs1057519415
NM_004544.4(NDUFA10):c.425A>G (p.Gln142Arg) rs387906873
NM_004544.4(NDUFA10):c.881T>C (p.Leu294Pro) rs1057519414
NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro) rs121434429
NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln) rs121434427
NM_004550.4(NDUFS2):c.686C>A (p.Pro229Gln) rs121434428
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270
NM_004553.5(NDUFS6):c.186+2T>A rs1561102614
NM_004553.5(NDUFS6):c.344G>A (p.Cys115Tyr) rs267606913
NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp) rs122454129
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) rs1603420690
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) rs1603417213
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser) rs387906703
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_004586.3(RPS6KA3):c.455_457GAG[1] (p.Gly153del) rs398122813
NM_004586.3(RPS6KA3):c.486+3A>G rs1603426293
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
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.395T>G (p.Val132Gly) rs267607076
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) rs397515553
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.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004615.3(TSPAN7):c.652G>T (p.Gly218Ter) rs104894950
NM_004945.3(DNM2):c.1844C>G (p.Ser615Trp) rs121909095
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) rs3210083
NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro) rs199592341
NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His) rs1554843434
NM_005004.4(NDUFB8):c.189del (p.Glu63fs) rs1264186261
NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln) rs1239013578
NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp) rs1554843251
NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro) rs776388520
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416
NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) rs372691318
NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) rs387907199
NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn) rs397515447
NM_005006.7(NDUFS1):c.666_668del (p.Ile223del) rs397515383
NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val) rs199422226
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225
NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) rs199422224
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.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005342.4(HMGB3):c.478_479TA[3] (p.Lys161fs) rs431825172
NM_005391.4(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) rs122453116
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) rs122453114
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.263-2A>G rs1569539244
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) rs606231193
NM_005710.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.301-11_301-10del
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_006013.4(RPL10):c.191C>T (p.Ala64Val) rs1131692042
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006013.4(RPL10):c.481G>A (p.Gly161Ser) rs1131692041
NM_006044.4(HDAC6):c.*282A>T rs398122390
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
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.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661
NM_007137.3(ZNF81):c.536G>A (p.Ser179Asn) rs28933691
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.2117T>C (p.Met706Thr) rs137852352
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) rs137852350
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.1171G>T (p.Gly391Cys) rs1114167441
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) rs587777605
NM_012280.4(FTSJ1):c.192-2A>G rs1602048728
NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) rs1602048836
NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG rs1555949612
NM_013995.2(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_013995.2(LAMP2):c.741+1G>A rs1251075016
NM_013995.2(LAMP2):c.864+5G>C rs1352584474
NM_013995.2(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) rs122461160
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) rs387906707
NM_014332.3(SMPX):c.130del (p.Glu44fs) rs398122848
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) rs387906706
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) rs387906708
NM_014332.3(SMPX):c.99del (p.Arg34fs) rs398122930
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014728.3(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_014728.3(FRMPD4):c.1851del (p.Cys618fs) rs886038208
NM_014728.3(FRMPD4):c.856C>T (p.Arg286Ter) rs1569057837
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) rs606231282
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.836T>C (p.Phe279Ser) rs121918524
NM_015282.3(CLASP1):c.196-562G>A rs370715569
NM_015282.3(CLASP1):c.196-570C>T rs750325275
NM_015282.3(CLASP1):c.196-591C>T rs756026847
NM_015282.3(CLASP1):c.196-605C>T rs188343279
NM_015282.3(CLASP1):c.196-672A>G rs863225423
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp) rs1057519337
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.4(MBTPS2):c.671-9T>G rs587777305
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) rs752513525
NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro) rs387906956
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys) rs387906958
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) rs376344575
NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg) rs387906957
NM_016032.4(ZDHHC9):c.167+5G>C rs606231183
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs) rs606231182
NM_016032.4(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser) rs137852215
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) rs786205133
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys) rs1569309816
NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys) rs1569309776
NM_016120.4(RLIM):c.1760C>G (p.Pro587Arg) rs1569309474
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn) rs1569309460
NM_016120.4(RLIM):c.1795C>T (p.Arg599Cys) rs1569309459
NM_016120.4(RLIM):c.1831C>T (p.Arg611Cys) rs1569309449
NM_016589.4(TIMMDC1):c.597-1340A>G rs781525096
NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del) rs1569277866
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) rs387907087
NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) rs267606830
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter) rs267606938
NM_018444.4(PDP1):c.851_853del (p.Leu284del) rs1554572756
NM_018480.5(TMEM126B):c.208C>T (p.Gln70Ter) rs886037857
NM_018480.5(TMEM126B):c.401del (p.Asn134fs) rs886037835
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu) rs398122938
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His) rs1057520297
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys) rs1057520299
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)
NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter) rs387907139
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_019056.6(NDUFB11):c.391G>A (p.Glu131Lys) rs1057519073
NM_019056.6(NDUFB11):c.402del (p.Arg134fs) rs876657384
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_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
NM_020717.3(SHROOM4):c.3266C>T (p.Ser1089Leu) rs121434620
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_021074.5(NDUFV2):c.120+5_120+8del rs752670374
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) rs772188600
NM_021120.4(DLG3):c.1092dup (p.Thr365fs) rs398122846
NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) rs398122847
NM_021120.4(DLG3):c.357+1G>C rs587777359
NM_021120.4(DLG3):c.985+1G>C rs587777360
NM_021783.5(EDA2R):c.253del (p.Asp85fs) rs515726133
NM_021998.5(ZNF711):c.1573A>T (p.Arg525Ter) rs199422240
NM_021998.5(ZNF711):c.2054del (p.Phe685fs) rs1060505032
NM_022101.4(CXorf56):c.159_160insTA (p.Asp54Ter) rs1556220029
NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) rs62637037
NM_022567.2(NYX):c.105C>A (p.Cys35Ter) rs62637021
NM_022567.2(NYX):c.281G>C (p.Arg94Pro) rs104894910
NM_022567.2(NYX):c.302T>C (p.Ile101Thr) rs104894911
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) rs62637027
NM_023010.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_023010.3(UPF3B):c.670_673GAAA[1] (p.Arg225fs) rs794727881
NM_023010.3(UPF3B):c.828_829del (p.Gly277fs) rs1603370185
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) rs267606689
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024407.5(NDUFS7):c.17-1167C>G rs1568985256
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705
NM_024407.5(NDUFS7):c.434G>A (p.Arg145His) rs121434479
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.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_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile)
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_025152.3(NUBPL):c.693+1G>A rs751631278
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.12559C>T (p.Arg4187Cys) rs121918527
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.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_033290.4(MID1):c.1311_1313GAT[1] (p.Met438del) rs1569270035
NM_033290.4(MID1):c.1544_1545AG[1] (p.Thr518_Pro519insTer) rs1569268029
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) rs104886121
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) rs104886293
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) rs104886091
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter) rs1555906768
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) rs1555907620
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) rs1555907623
NM_078629.4(MSL3):c.1381+1G>T rs1555907626
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) rs1555906707
NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_138437.6(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn) rs1569491884
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) rs104894745
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193
NM_144495.2(PQBP1):c.293-341AG[7] rs606231193
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_145331.3(MAP3K7):c.208G>C (p.Glu70Gln) rs886039231
NM_145331.3(MAP3K7):c.299T>A (p.Val100Glu) rs886039232
NM_145331.3(MAP3K7):c.502G>C (p.Gly168Arg) rs886039233
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) rs1057519085
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) rs1057519084
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) rs137853184
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170
NM_152416.4(NDUFAF6):c.420+784C>T
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs)
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) rs1057519086
NM_153252.5(BRWD3):c.3325+1G>T rs730882185
NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu) rs137853272
NM_153252.5(BRWD3):c.946dup (p.Arg316fs) rs730882186
NM_171998.4(RAB39B):c.215+1G>A rs587776734
NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter) rs267606995
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_174889.5(NDUFAF2):c.103del (p.Ile35fs) rs1554076324
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu) rs1554076306
NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter) rs1554076309
NM_175614.5(NDUFA11):c.97+5G>A rs1348957889
NM_178152.3(DCX):c.233G>A (p.Arg78His) rs104894784
NM_178152.3(DCX):c.265C>G (p.Arg89Gly) rs104894785
NM_178152.3(DCX):c.32_33GA[3] (p.Asp12fs) rs1569498597
NM_178152.3(DCX):c.689_690CT[1] (p.Leu231fs) rs1569497266
NM_181332.3(NLGN4X):c.1252_1253GA[1] (p.Glu418fs) rs1569118680
NM_181672.3(OGT):c.463-6T>G rs943295842
NM_181672.3(OGT):c.762G>T (p.Leu254Phe) rs1131692155
NM_181672.3(OGT):c.851G>C (p.Arg284Pro) rs1114167891
NM_198270.4(NHS):c.115C>T (p.Gln39Ter) rs104894881
NM_198270.4(NHS):c.2387dup (p.Ser797fs) rs786205255
NM_198270.4(NHS):c.3459del (p.Leu1154fs) rs786205256
NM_198270.4(NHS):c.718+1dup rs1556030707
NM_198270.4(NHS):c.852+1del rs786205677
NM_198270.4(NHS):c.853-2A>G rs786205257
NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg) rs121918134
NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr) rs121918136
NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) rs121918135
NM_203473.3(PORCN):c.1044_1056dup (p.Thr353fs) rs587776737
NM_203473.3(PORCN):c.1094G>A (p.Arg365Gln) rs387906723
NM_203473.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203473.3(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203473.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NR0B1, 1-BP DEL
NR0B1, 1-BP DEL, 1169C
NR0B1, 1-BP INS, 430G
NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS
NR0B1, 2-BP DEL, 388AG
NR0B1, 2.2-KB DEL/27-BP INS
NR0B1, DEL
NR_023343.1(RNU4ATAC):n.13C>T rs559979281
NR_023343.1(RNU4ATAC):n.48G>A rs863225422
NYX, 24-BP DEL
OCRL, 112-BP DEL
OPHN1, 17.6-KB DEL
OTC, DEL
PCDH19, 5-BP DUP, NT1036
PDHA1, 13-BP INS, EX10
PHEX, 2-BP DEL, 675TC
PHEX, A-G, NT-429
PHEX, IVS1AS, G-A, -1
PHEX, IVS1AS, G-C, -1
PHEX, IVS4, T-C, +6
PHF8, 12-BP DEL
PLP1, DEL
PLP1, DUP
RBMX, 23-BP DEL, EX9
RPGR, 15-BP DEL, NT694
RPS6KA3, 187-BP DEL, NT406
RPS6KA3, 7.2-KB DEL
RPS6KA3, DUP EXONS 17-20, NT1959
RPS6KA3, IVS12, A-G, -2
RPS6KA3, IVS3, L1 INS, -8
RPS6KA3, IVS5, A-G, -11
RS1, 4-BP INS
SH2D1A, 159-BP DEL
SH2D1A, 163C-T
SH2D1A, EX1DEL
SLC16A2, 1-BP DEL, 1212T
SLC16A2, EX1DEL
SOX3, 33-BP DUP, NT711-743, ALANINE TRACT EXPANSION
SYP, 1-BP INS, 274A
SYP, 2-BP DEL/INS
SYP, 4-BP DEL, 829GACT
TIMM8A, DEL
TSPAN7, 2-BP DEL, 564GT
UBE2A, GLY23ARG
WAS, 1-BP DEL, 211T
WAS, 1-BP DEL, 758A
WAS, 1-BP DEL, CODON 241, C
WAS, 15,800-BP DEL
WAS, IVS6DS, G-A, +5
XIAP, 2606-BP DEL
m.11777C>A rs28384199
m.4810G>A rs267606888
m.5132_5133delAA rs199476116
nsv1067908
nsv1197507
nsv513783
nsv513796

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