ClinVar Miner

List of variants reported as pathogenic for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4119
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000032.4(ALAS2):c.-258C>G rs140772352 0.00656
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_004840.3(ARHGEF6):c.166-11T>C rs140322310 0.00185
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625 0.00037
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_001289.6(CLIC2):c.303C>G (p.His101Gln) rs398122917 0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197 0.00009
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter) rs397509378 0.00006
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624 0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu) rs767354861 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His) rs775810789 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859 0.00003
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter) rs778497200 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter) rs397509379 0.00003
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.601+1632G>A rs387906429 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) rs587777605 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter) rs777555935 0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) rs531851447 0.00002
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) rs376610215 0.00002
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088 0.00001
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000047.3(ARSL):c.24-1G>A rs762627146 0.00001
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000054.7(AVPR2):c.410G>A (p.Arg137His) rs104894756 0.00001
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) rs1477466218 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1316G>T (p.Gly439Val) rs1362305882 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys) rs137852417 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys) rs137852443 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser) rs137852374 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.940A>G (p.Thr314Ala) rs137852406 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810 0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420 0.00001
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter) rs387907138 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 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_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) rs773573633 0.00001
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr) rs387907301 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His) rs267607139 0.00001
NM_001252024.2(TRPM1):c.2087+2T>C rs766862238 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) rs782034481 0.00001
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041 0.00001
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.526+5G>C rs397516664 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001555.5(IGSF1):c.3790C>T (p.Arg1264Ter) rs1309588455 0.00001
NM_001972.4(ELANE):c.598-1G>A rs201117839 0.00001
NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr) rs781818996 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_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 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
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265 0.00001
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) rs1410075831 0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met) rs1357978246 0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala) rs782072593 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_201599.3(ZMYM3):c.1321C>T (p.Arg441Trp) rs587777358 0.00001
ARX, ARG2085HIS
CD40LG, 10-BP DEL
CD40LG, THR211ASP
COL4A5, 10-15-KB INS, 40-KB DEL
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
Exon 5 deletion, about 2 kb
F8, 23-BP DEL, FS
F8, 89-BP DEL, FS
F8, EX11-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX26DEL
F8, EX5DEL
F8, IVS22 INV
GRCh37/hg19 Xp11.22(chrX:53104986-54034505)
GRCh37/hg19 Xp11.22(chrX:53239546-53349064)x1
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
GRCh37/hg19 Xp22.11(chrX:23395622-23463363)x0
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
GRCh37/hg19 Xq13.3(chrX:74641546-74744601)
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq25(chrX:122970459-123034511)
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
GRCh37/hg19 Xq28(chrX:147458752-147628024)
GRCh37/hg19 Xq28(chrX:147642893-147870805)
GRCh37/hg19 Xq28(chrX:149761077-149818374)
GRCh37/hg19 Xq28(chrX:152372767-155233731)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
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 Xp22.31(chrX:6989414-7926139)x0
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
GRCh38/hg38 Xq28(chrX:153905292-154361918)
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
L1CAM, 1.3-KB DUP
Multiple alleles
NC_000015.10:g.(?_31001061)_(31161273_?)del
NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup
NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del
NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del
NC_000023.10:g.(22208620_22231047)_(22266070_?)del
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
NC_000023.10:g.(?_117629935)_(119761021_?)del
NC_000023.10:g.(?_122318388)_(123505241_?)del
NC_000023.10:g.(?_123480147)_(123480649_?)del
NC_000023.10:g.(?_123480493)_(123505241_?)del
NC_000023.10:g.(?_123494030)_(123499653_?)del
NC_000023.10:g.(?_123499591)_(123499694_?)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.(?_135067662)_(136652229_?)del
NC_000023.10:g.(?_135288556)_(135293528_?)del
NC_000023.10:g.(?_135730388)_(135737600_?)del
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149761067)_(149761149_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152954020)_(154096327_?)del
NC_000023.10:g.(?_152959340)_(153009209_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_152990722)_(153009189_?)del
NC_000023.10:g.(?_152991573)_(152995898_?)del
NC_000023.10:g.(?_152994617)_(153006193_?)del
NC_000023.10:g.(?_152996855)_(153006103_?)del
NC_000023.10:g.(?_152999896)_(153005554_?)del
NC_000023.10:g.(?_153001546)_(153002725_?)del
NC_000023.10:g.(?_153001546)_(153009189_?)del
NC_000023.10:g.(?_153001789)_(153009189_?)del
NC_000023.10:g.(?_153002601)_(153002715_?)del
NC_000023.10:g.(?_153005725)_(153006804_?)del
NC_000023.10:g.(?_153008421)_(153009189_?)del
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153008655)_(153009189_?)del
NC_000023.10:g.(?_153008701)_(153011800_?)del
NC_000023.10:g.(?_153287263)_(153363189_?)dup
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.(?_153607393)_(153608624_?)del
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153607835)_(153609567_?)del
NC_000023.10:g.(?_153609093)_(153609182_?)del
NC_000023.10:g.(?_154379237)_(154381523_?)del
NC_000023.10:g.(?_20173516)_(20174387_?)del
NC_000023.10:g.(?_20204394)_(20206108_?)del
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
NC_000023.10:g.(?_24483573)_(25033854_?)del
NC_000023.10:g.(?_2838632)_(2878441_?)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_43515570)_(43603780_?)del
NC_000023.10:g.(?_43515590)_(43817891_?)del
NC_000023.10:g.(?_46466387)_(47489243_?)del
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.(?_53263401)_(53280376_?)del
NC_000023.10:g.(?_53270946)_(53271111_?)del
NC_000023.10:g.(?_53279441)_(53280376_?)del
NC_000023.10:g.(?_68836133)_(69255479_?)del
NC_000023.10:g.(?_68836153)_(68836568_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)dup
NC_000023.10:g.(?_69080668)_(69177002_?)del
NC_000023.10:g.(?_69080668)_(69177002_?)dup
NC_000023.10:g.(?_69176857)_(69255459_?)del
NC_000023.10:g.(?_69235004)_(69247795_?)del
NC_000023.10:g.(?_69243048)_(69247906_?)del
NC_000023.10:g.(?_69243048)_(69255479_?)del
NC_000023.10:g.(?_69255198)_(69255469_?)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.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77300947)_(77302067_?)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.12515801_12581900del
NC_000023.10:g.14693216_14836199del
NC_000023.10:g.22256748_22370988del114241
NC_000023.10:g.24020361_24042839del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_000023.11:g.(154805077_154806947)_(155030999_?)del
NC_000023.11:g.(154863228_154896077)_(155022724_?)del
NC_000023.11:g.(154930804_?)_(?_154933516)del
NC_000023.11:g.(154959165_?)_(?_154963500)del
NC_000023.11:g.(154969553_154984686)_(155022724_?)del
NC_000023.11:g.(154974508_154984686)_(154984804_154986431)del
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.(41853228_41922929)(41923555_?)del
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
NC_000023.11:g.(74745698_74924882)_(74925453_?)dup
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.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
NC_000023.11:g.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136648058)_(136659435_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
NC_000023.11:g.(?_153736092)_(153743755_?)del
NC_000023.11:g.(?_153736102)_(153743735_?)del
NC_000023.11:g.(?_153736102)_(153743745_?)del
NC_000023.11:g.(?_153740082)_(153740247_?)del
NC_000023.11:g.(?_153742977)_(153743745_?)del
NC_000023.11:g.(?_153743201)_(153743755_?)del
NC_000023.11:g.(?_154835791)_(154837753_154860431)del
NC_000023.11:g.(?_154835791)_(154837753_?)del
NC_000023.11:g.(?_154835791_(154905024_154906419)del
NC_000023.11:g.(?_154931495)_(154989517_154990580)del
NC_000023.11:g.(?_155022409)_(155022724_?)del
NC_000023.11:g.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NC_000023.11:g.(?_30304579)_(30309363_?)del
NC_000023.11:g.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)dup
NC_000023.11:g.(?_69957017)_(69957142_?)del
NC_000023.11:g.(?_70035338)_(70035629_?)del
NC_000023.11:g.155264167_155265545del
NC_000023.11:g.22130083_22232038dup
NC_000023.11:g.22213388_22345581del
NC_000023.11:g.22243338_22690207del
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
NC_000023.11:g.48681722_48688043inv
NC_000023.11:g.53254331_53296102dup
NC_000023.11:g.68119248_68212212dup
NC_000023.11:g.86041956_86048370inv
NC_000023.9:g.9688757-?_9693917+?del
NG_007264.1:g.(31343_33421)_(33522_36040)del
NG_007280.1:g.5145_5146insAluAluYb8inv
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
NG_008054.1:g.(35701_?)_(?_50820)del
NG_008197.2:g.(218402_271087)_(271804_315503)dup
NG_008281.1:g.(?_4983)_(8028_10643)del
NG_008292.1:g.700375-?_1335033+?del
NG_008292.2:g.(?_707879)_(1040749_?)del
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NG_009095.2:g.(16929_16947)_(21383_21401)del
NG_009814.1:g.(?_4989)_(10173_?)del
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NG_011403.1:g.2114_5221del
NG_011403.2:(80027_96047)_(99154_121150)del
NG_011403.2:g.(123429_123635)_(125674_126281)del
NG_011403.2:g.(123819_125556)_(127859_131491)del
NG_011403.2:g.(127859_131491)_(131648_164496)del
NG_011403.2:g.(131648_164496)_(167293_189971)del
NG_011403.2:g.(164642_165857)_(167293_189971)del
NG_011403.2:g.(28246_30628)_(30752_34575)del
NG_011403.2:g.(28246_30628)_(80027_96047)del
NG_011403.2:g.(30752_34575)_(167293_189971)del
NG_011403.2:g.(30752_34575)_(66650_70552)del
NG_011403.2:g.(34789_40418)_(43038_58171)del
NG_011403.2:g.(43038_58171)_(61755_66555)del
NG_011403.2:g.(43038_58171)_(99154_121150)del
NG_011403.2:g.(5000_5315)_(40488_42920)del
NG_011403.2:g.(5315_28123)_(30752_30752)del
NG_011403.2:g.(5315_28123)_(34789_40418)del
NG_011403.2:g.(80027_96047)_(127859_131491)del
NG_011403.2:g.(80027_96047)_(131648_164496)del
NG_011403.2:g.(80027_96047)_(99154_121150)del
NG_011403.2:g.(99154_121150)_(123819_125556)del
NG_011403.2:g.97660_97662delinsAluYb8
NG_011641.2:g.(108110_108560)_(109645_112963)del
NG_011977.2:g.(239831_242576)_(252772_257824)del
NG_011977.2:g.(246966_251107)_?del
NG_011977.2:g.?_(146097_162513)del
NG_016313.2:g.(5527_156380)_(156514_166289)del
NG_016453.2:g.66830_103274del
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.1706_1709del (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.488G>A (p.Arg163His) rs2146722839
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
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_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.1074dup (p.Glu359fs)
NM_000033.4(ABCD1):c.1081+1G>A rs2091727061
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs) rs1603234451
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) rs782266592
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter) rs782007706
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter) rs1603234501
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
NM_000033.4(ABCD1):c.1224+2T>A
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=) rs2148395507
NM_000033.4(ABCD1):c.1225-7_1239del rs1569541009
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg) rs2091749844
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs) rs2148395658
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1393+1G>A
NM_000033.4(ABCD1):c.1394-2A>G
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter) rs2091752744
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.1430del (p.Glu477fs) rs2148396057
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) rs1603234759
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1488+1G>A rs2091753176
NM_000033.4(ABCD1):c.1489-1G>A rs1603235263
NM_000033.4(ABCD1):c.1489-2A>G
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs) rs2148397523
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
NM_000033.4(ABCD1):c.1529del (p.Gly510fs) rs2091762383
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del) rs2091762396
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter) rs2148388737
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1634+1G>C
NM_000033.4(ABCD1):c.1634+1G>T
NM_000033.4(ABCD1):c.1635-1G>A rs1603235389
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
NM_000033.4(ABCD1):c.1657del (p.Leu553fs) rs2148397899
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter) rs2148397922
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1695del (p.Asp565fs) rs2091764622
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter) rs2148397954
NM_000033.4(ABCD1):c.1742_1781-968del
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter) rs2091765003
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg) rs2148398002
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter) rs1603235901
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter) rs2148398982
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs) rs2148398995
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) rs398123107
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter) rs128624225
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs) rs2148399034
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
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.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg) rs2148399209
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr) rs2091773525
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg) rs202125585
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile) rs2091773697
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
NM_000033.4(ABCD1):c.1933del (p.Gln645fs) rs1603236013
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro) rs2091774046
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs) rs2148399327
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs) rs2148399330
NM_000033.4(ABCD1):c.1991+1G>A
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter) rs2091774163
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp) rs2091775068
NM_000033.4(ABCD1):c.1A>G (p.Met1Val) rs2091702389
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg) rs2091775127
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) rs797044625
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs) rs2148399483
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) rs1603231784
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
NM_000033.4(ABCD1):c.290A>C (p.His97Pro) rs2091705296
NM_000033.4(ABCD1):c.290A>G (p.His97Arg) rs2091705296
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter) rs2148388538
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) rs1304001811
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu) rs2091705631
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del) rs2148389007
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.36del (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.36dup (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) rs398123111
NM_000033.4(ABCD1):c.408del (p.Gln136fs) rs1603231897
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp) rs1557052362
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly) rs1569540693
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro) rs1557052367
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter) rs373957035
NM_000033.4(ABCD1):c.483del (p.Phe162fs) rs2091707458
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter) rs2148389350
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.524_526del (p.Phe175del) rs2091707872
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs) rs2148389462
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn) rs2091708688
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe) rs2148389513
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg) rs2148389516
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.668_900+291del rs2148389592
NM_000033.4(ABCD1):c.697del (p.Ala233fs) rs2148389670
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.723del (p.Trp242fs) rs1603232111
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala) rs2148389772
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp) rs1204814114
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del) rs2148389834
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu) rs2091711094
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del) rs2091711370
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.841_853del (p.Tyr281fs)
NM_000033.4(ABCD1):c.847C>G (p.His283Asp) rs782509393
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
NM_000033.4(ABCD1):c.848A>G (p.His283Arg) rs2148389929
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter) rs2091711722
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000033.4(ABCD1):c.855del (p.Val286fs)
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser) rs2148389994
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.893dup (p.His299fs)
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.901-1G>A rs2148391908
NM_000033.4(ABCD1):c.901-2A>C rs2148391907
NM_000033.4(ABCD1):c.901-2A>G rs2148391907
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) rs1603233089
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro) rs2148391974
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter) rs2091726671
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
NM_000047.3(ARSL):c.1289+1G>A rs2147349066
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.3(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) rs2077660153
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) rs2077859082
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) rs2078061940
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) rs2149083118
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.7(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.7(AVPR2):c.24del (p.Ala9fs) rs1557100304
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.7(AVPR2):c.468G>A (p.Trp156Ter)
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs) rs2148514762
NM_000054.7(AVPR2):c.738del (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.738dup (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer) rs193922119
NM_000054.7(AVPR2):c.809_810del (p.Val270fs) rs2064966689
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del) rs2064967091
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter) rs1064797077
NM_000054.7(AVPR2):c.966del (p.Trp323fs) rs886040961
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
NM_000074.3(CD40LG):c.133del (p.Tyr45fs) rs2076095044
NM_000074.3(CD40LG):c.138del (p.His47fs)
NM_000074.3(CD40LG):c.156+1G>A
NM_000074.3(CD40LG):c.156+2T>C rs2148550585
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) rs2148550523
NM_000074.3(CD40LG):c.189dup (p.Val64fs) rs193922134
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
NM_000074.3(CD40LG):c.229del (p.Arg77fs)
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
NM_000074.3(CD40LG):c.289-1G>A rs2148552379
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs) rs1569376930
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
NM_000074.3(CD40LG):c.346+1G>A rs2148552407
NM_000074.3(CD40LG):c.346+1G>T
NM_000074.3(CD40LG):c.346+5G>A rs2148552412
NM_000074.3(CD40LG):c.347-1G>A rs2076118841
NM_000074.3(CD40LG):c.347-2A>G rs1569377237
NM_000074.3(CD40LG):c.349_409+2del rs2148552900
NM_000074.3(CD40LG):c.359del (p.Pro120fs) rs1603321138
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter) rs1215852570
NM_000074.3(CD40LG):c.386del (p.Glu129fs) rs2076119100
NM_000074.3(CD40LG):c.401del (p.Thr134fs) rs2076119189
NM_000074.3(CD40LG):c.409+1G>C rs2148552941
NM_000074.3(CD40LG):c.409+2T>C
NM_000074.3(CD40LG):c.412_419del
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) rs104894777
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro) rs1387503550
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.3(CD40LG):c.470del (p.Asn157fs) rs2148553684
NM_000074.3(CD40LG):c.474del (p.Lys159fs) rs2076126996
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) rs2076127075
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) rs2076127276
NM_000074.3(CD40LG):c.559del (p.Ala187fs) rs1556143529
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter) rs2148553738
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) rs1085307733
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) rs2076127875
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000117.3(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter) rs2148128122
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.116_143del (p.Phe39fs) rs1569552080
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.3(EMD):c.125del (p.Glu42fs) rs2148128139
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.143dup (p.Ser49fs)
NM_000117.3(EMD):c.153del (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.187+1G>A rs794729010
NM_000117.3(EMD):c.187+1G>T rs794729010
NM_000117.3(EMD):c.187+2T>G
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.217_218dup (p.Met73fs) rs1557182364
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.2T>G (p.Met1Arg) rs2148127941
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
NM_000117.3(EMD):c.399+1G>T rs2148128554
NM_000117.3(EMD):c.399+2T>C
NM_000117.3(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.3(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.3(EMD):c.449+1G>A rs2148128756
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.475_476del (p.Ser159fs) rs2067883871
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter) rs2148128811
NM_000117.3(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
NM_000117.3(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.561_567dup (p.Phe190fs) rs2148128862
NM_000117.3(EMD):c.570del (p.Phe190fs) rs2148128871
NM_000117.3(EMD):c.570dup (p.Met191fs) rs2148128871
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
NM_000117.3(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.615del (p.Ile206fs) rs2148128932
NM_000117.3(EMD):c.619del (p.Arg207fs) rs2067885544
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.631del (p.Arg211fs) rs2148128957
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.643_653dup (p.Gln219fs) rs2148128961
NM_000117.3(EMD):c.643del (p.Ala215fs)
NM_000117.3(EMD):c.650_654del (p.Leu217fs) rs730880352
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
NM_000117.3(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
NM_000117.3(EMD):c.77dup (p.Val27fs) rs2067873691
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
NM_000117.3(EMD):c.82+1G>T rs1557182214
NM_000117.3(EMD):c.83-2A>C rs727504901
NM_000117.3:c.55_83del
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.4(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.4(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.4(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.4(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.4(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.4(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.4(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.4(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.4(F8):c.143+1116_143+1742del rs2073755958
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup) rs2073393487
NM_000132.4(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1506_1516del (p.Arg503fs) rs2124099163
NM_000132.4(F8):c.1538-1G>T rs1414679955
NM_000132.4(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.4(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)
NM_000132.4(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1701del (p.Ile567fs)
NM_000132.4(F8):c.170_179dup (p.Thr61fs) rs2124149047
NM_000132.4(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.4(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.4(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.4(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.4(F8):c.1750del (p.Gln584fs) rs2124094327
NM_000132.4(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.4(F8):c.1784T>C (p.Phe595Ser) rs2073351165
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.4(F8):c.1812G>A (p.Trp604Ter) rs137852426
NM_000132.4(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.4(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
NM_000132.4(F8):c.1903+5G>A rs2124090120
NM_000132.4(F8):c.1904-736_2113+2563dup
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.4(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.4(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.4(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.205_206del (p.Leu69fs) rs1317834655
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.4(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.4(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2962_2963del (p.Ser988fs) rs387906448
NM_000132.4(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
NM_000132.4(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.364_365del (p.Val122fs) rs387906435
NM_000132.4(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs) rs2124049493
NM_000132.4(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000132.4(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.412del (p.Ser138fs)
NM_000132.4(F8):c.4242dup (p.Phe1415fs) rs1360639935
NM_000132.4(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer) rs2124048199
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter) rs137852438
NM_000132.4(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5220-2A>G rs2073039685
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.4(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.4(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.4(F8):c.5374-224_5453delinsT
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.4(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.4(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)
NM_000132.4(F8):c.5586G>A (p.Leu1862=) rs2123997676
NM_000132.4(F8):c.5587-2A>G rs2073027912
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.4(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.4(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.4(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.4(F8):c.602-2A>G rs2124134457
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.4(F8):c.6115+2T>C
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser) rs1267586059
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter) rs2072977865
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.4(F8):c.6429+16424_6430-16424inv
NM_000132.4(F8):c.6429+2T>A
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.4(F8):c.6670_6672del (p.Pro2224del) rs1229477261
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.4(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.4(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.671-2A>G rs2124131475
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter) rs1377166595
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg) rs2072681848
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs) rs1356674990
NM_000132.4(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.755_756del (p.Thr252fs)
NM_000132.4(F8):c.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.788-1G>C rs2073445259
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.4(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.4(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.4(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.4(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.4(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.4(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.4(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.4(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4:c.3065_3066insL13054_3065dup
NM_000132.4:c.6430_6723del
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.521-35_723+84del rs1603265760
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.4(F9):c.88G>C (p.Val30Leu) rs1603263395
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup) rs1555937071
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.1A>G (p.Met1Val)
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter) rs2092543877
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.395G>A (p.Trp132Ter) rs2147946047
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.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs) rs1602349420
NM_000166.6(GJB1):c.47A>T (p.His16Leu) rs1602348610
NM_000166.6(GJB1):c.48T>C (p.His16=)
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln) rs1602349468
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) rs1602349535
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr) rs1602349628
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.57C>T (p.Ala19=)
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000166.6(GJB1):c.88A>T (p.Ile30Phe)
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000166.6(GJB1):c.90C>G (p.Ile30Met)
NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)
NM_000240.4(MAOA):c.1214del (p.Gly405fs) rs2147107556
NM_000240.4(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.4(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_000240.4(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.4(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000252.2(MTM1):c.-76_-11del
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) rs797045711
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs) rs2148497926
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1053+1G>A rs587783751
NM_000252.3(MTM1):c.1053+1G>C rs587783751
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1116del (p.Val373fs)
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.3(MTM1):c.116del (p.Pro39fs) rs2038979352
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1260+15C>G
NM_000252.3(MTM1):c.1260+1G>A rs587783768
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-1G>C rs587783770
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353+1G>A rs587783779
NM_000252.3(MTM1):c.1353+2T>C rs587783780
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1354-1G>A rs587783782
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) rs2148511970
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000252.3(MTM1):c.1467+2T>A rs587783799
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) rs868972342
NM_000252.3(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1644+1G>A rs398123272
NM_000252.3(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2T>G rs587783811
NM_000252.3(MTM1):c.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-2A>C rs587783813
NM_000252.3(MTM1):c.232-3C>A rs587783814
NM_000252.3(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) rs2148456062
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) rs147644722
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.3(MTM1):c.342+1G>A rs1557413092
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-2A>G rs587783821
NM_000252.3(MTM1):c.397_398del (p.Met133fs) rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.3(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.3(MTM1):c.473del (p.Lys158fs)
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.3(MTM1):c.516del (p.Glu172fs) rs2039803495
NM_000252.3(MTM1):c.528+1G>A
NM_000252.3(MTM1):c.528+1G>T rs587783830
NM_000252.3(MTM1):c.529-2A>G rs587783831
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) rs2148488410
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) rs2148488506
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.3(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.624del (p.Ser209fs) rs2039846270
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.63+1G>A rs587783843
NM_000252.3(MTM1):c.63+1G>T rs587783843
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.3(MTM1):c.64-1G>A rs587783846
NM_000252.3(MTM1):c.64-2A>G rs1603123976
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.678+1G>A rs587783849
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) rs2039919698
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs) rs2148493304
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867+2T>A
NM_000252.3(MTM1):c.867_867+1dup rs797045721
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.3(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) rs797045724
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_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000273.3(GPR143):c.361-2A>C rs2146699664
NM_000273.3(GPR143):c.36del (p.Thr13fs)
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.548+2T>A rs2083438278
NM_000273.3(GPR143):c.548+2T>C rs2083438278
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter) rs2146705998
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.772C>A (p.His258Asn) rs121918582
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs) rs2147807115
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) rs1454033665
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) rs878853242
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) rs1569280138
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
NM_000307.5(POU3F4):c.340dup (p.Trp114fs) rs2147996471
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs) rs876657719
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs) rs2147996672
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs) rs2147996200
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter) rs1199790524
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) rs780027419
NM_000307.5(POU3F4):c.896del (p.Lys299fs) rs267606974
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)
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.975G>A (p.Trp325Ter) rs1569280385
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
NM_000330.4(RS1):c.160_163dup (p.Thr55fs) rs281865342
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) rs104894932
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.287G>A (p.Trp96Ter) rs2147193970
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
NM_000330.4(RS1):c.38T>C (p.Leu13Pro) rs104894935
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.53-1G>A rs1928241490
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.667T>C (p.Cys223Arg) rs104894929
NM_000351.4:g.(?_6551155)_(8032120_?)del
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1315_1453+204del rs1602179794
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.1337_1338+9del rs1602179810
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs) rs2062432653
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.190T>C (p.Trp64Arg) rs2147262851
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.360+1G>C rs1057520700
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3]) rs587776743
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.734+5G>A rs1602178267
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.802del (p.Arg268fs) rs2147265894
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000377.3(WAS):c.990del (p.Ile331fs) rs2147266326
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) rs1569270035
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.1917del (p.Thr640fs) rs1569265497
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer) rs2147369813
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.757-1G>C rs1555895725
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_000390.2:c.315_702del
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) rs2147663153
NM_000390.4(CHM):c.1166+1G>C rs2147662906
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000390.4(CHM):c.1413+1G>T rs1926202120
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.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.280del (p.Thr94fs) rs1555958073
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) rs2147676302
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) rs1930439753
NM_000390.4(CHM):c.419del (p.Pro140fs) rs1930438584
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) rs2147676177
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) rs1930431885
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) rs1930428430
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.660del (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.703-2A>G rs2147667674
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.846dup (p.Asn283Ter) rs2147665855
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) rs2147665799
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) rs1556026027
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter) rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) rs1556029499
NM_000444.6(PHEX):c.1134del (p.Ser379fs) rs1556029516
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp) rs1556029519
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) rs1602304005
NM_000444.6(PHEX):c.1173+1G>A rs1064793227
NM_000444.6(PHEX):c.1174-1G>A rs2147065556
NM_000444.6(PHEX):c.118+1G>A rs1131691731
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.119-1G>A rs2146979490
NM_000444.6(PHEX):c.119-1G>C rs2146979490
NM_000444.6(PHEX):c.119-3C>G rs1556012055
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
NM_000444.6(PHEX):c.1215del (p.Lys405fs) rs1602307094
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) rs1556030465
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) rs1602307107
NM_000444.6(PHEX):c.1266del (p.Phe422fs) rs2147065739
NM_000444.6(PHEX):c.1269del (p.Asp424fs) rs1556030487
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) rs1556030502
NM_000444.6(PHEX):c.1302+2T>A rs2147065825
NM_000444.6(PHEX):c.1303-1G>C rs1556036014
NM_000444.6(PHEX):c.1303-2A>G
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1313del (p.Leu438fs) rs1932102521
NM_000444.6(PHEX):c.1324del (p.Val442fs) rs1602324484
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs) rs2147086366
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) rs2147086395
NM_000444.6(PHEX):c.135_136del (p.Leu47fs) rs1602244774
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu) rs2147086514
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) rs1602324630
NM_000444.6(PHEX):c.1404+1G>C rs2147086611
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) rs754449807
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1425del (p.Val476fs) rs1602354302
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) rs202074612
NM_000444.6(PHEX):c.142dup (p.Gln48fs) rs2146979520
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1482+5G>C rs1269067103
NM_000444.6(PHEX):c.1482dup (p.Ile495fs) rs2147118855
NM_000444.6(PHEX):c.1483-2A>G rs1556070724
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del) rs2147128134
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) rs1556070890
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) rs886041361
NM_000444.6(PHEX):c.1560del (p.Trp520fs) rs1556071086
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) rs1556071123
NM_000444.6(PHEX):c.1572dup (p.Val525fs) rs1556071138
NM_000444.6(PHEX):c.1586+1G>A rs1064796928
NM_000444.6(PHEX):c.1586+2T>G rs1057518377
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586_1586+1del rs886041362
NM_000444.6(PHEX):c.1587-1G>A rs886041839
NM_000444.6(PHEX):c.1587-2145_1645+3342del
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys) rs1556091855
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1646-2A>C rs2147164011
NM_000444.6(PHEX):c.1646-2A>G rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) rs1556128043
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.1700+2T>C rs1556128253
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) rs1556135308
NM_000444.6(PHEX):c.1718del (p.Ala573fs) rs2147171155
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) rs1556135467
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) rs1556135477
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) rs772130004
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1769-1G>A rs1602405079
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) rs886041364
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) rs770630990
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer) rs1556138590
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs) rs2147174569
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
NM_000444.6(PHEX):c.187+1G>T rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) rs1556138742
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2113_1957del
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1910dup (p.Arg638fs) rs1556148392
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) rs1556148532
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) rs1556151071
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) rs2146987638
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) rs1556151545
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.2071-1G>C rs886041374
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) rs1556200989
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs) rs2147213985
NM_000444.6(PHEX):c.2093del (p.Pro698fs) rs1556201034
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) rs1602240926
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs) rs2147214136
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.2147+3A>T rs1556201217
NM_000444.6(PHEX):c.2148-2A>G rs1556205815
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) rs1057517981
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) rs1556206093
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs) rs1556206335
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) rs1556014263
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) rs1556014287
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) rs137853269
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) rs2146987874
NM_000444.6(PHEX):c.349+1G>A rs193922459
NM_000444.6(PHEX):c.350-1G>A rs2147019098
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.37_38del (p.Lys13fs) rs2146974254
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000444.6(PHEX):c.3G>A (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) rs1556020460
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) rs2147019252
NM_000444.6(PHEX):c.424del (p.Cys142fs) rs1556020474
NM_000444.6(PHEX):c.436+4A>T rs1057520344
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter) rs1929202828
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) rs1556020752
NM_000444.6(PHEX):c.468del (p.Leu157fs) rs2147020412
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.535del (p.Val179fs) rs2147020604
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.546_549del (p.Arg183fs) rs1556020798
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.593del (p.Tyr198fs) rs1602274950
NM_000444.6(PHEX):c.613del (p.Arg205fs) rs1929214770
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) rs1929219058
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-1G>T rs886041529
NM_000444.6(PHEX):c.673del (p.Ala225fs) rs2147035468
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) rs1556023495
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.704del (p.Tyr235fs) rs1556023503
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) rs2147035526
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) rs1556023505
NM_000444.6(PHEX):c.732+3_732+6del rs2147035589
NM_000444.6(PHEX):c.732+5G>A rs1556023528
NM_000444.6(PHEX):c.732+5G>C rs1556023528
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.78dup (p.Val27fs) rs1556010757
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) rs1556024541
NM_000444.6(PHEX):c.849+1268G>T rs919011936
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) rs1602290398
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000444.6(PHEX):c.933+2T>A rs2147043777
NM_000444.6(PHEX):c.934-1G>T rs1602292528
NM_000444.6(PHEX):c.934-2A>G rs1930291143
NM_000444.6(PHEX):c.934-3_934-1delinsTCA rs1556025936
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.985del (p.His329fs) rs1556025994
NM_000475.5(NR0B1):c.0_1168+260del
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) rs1555972957
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1169-112_*17delinsTG rs1555972632
NM_000475.5(NR0B1):c.1169-1G>A rs1555972666
NM_000475.5(NR0B1):c.1169-1G>T
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.1201C>T (p.Gln401Ter)
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer) rs1555972655
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile) rs387907373
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
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.1340T>C (p.Leu447Pro) rs1555972641
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs) rs1555972640
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs) rs2147007424
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.215_218dup (p.His73fs) rs1926599738
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.277del (p.Ala93fs) rs1555973189
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) rs132630327
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) rs1555973132
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.543del (p.Gly183fs) rs1555973120
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs) rs1555973119
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer) rs1555973117
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs) rs1555973115
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs) rs1555973091
NM_000475.5(NR0B1):c.652dup (p.Thr218fs) rs1555973092
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.754del (p.Gln252fs) rs1555973063
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) rs1311271225
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) rs1555973058
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.806T>A (p.Val269Asp) rs1555973045
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) rs753734546
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) rs1555973031
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) rs1601792367
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) rs1555973021
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) rs1489209061
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) rs1555972994
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_000495.5(COL4A5):c.321+5G>A rs2147746317
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) rs104893789
NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter) rs764476239
NM_000843.4(GRM6):c.722-1G>T rs766594761
NM_000843.4(GRM6):c.727dup rs281865186
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn) rs1569491884
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
NM_001004334.4(GPR179):c.1784+1G>A rs773126191
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr) rs281875234
NM_001004334.4(GPR179):c.187del (p.Leu63fs) rs794726686
NM_001004334.4(GPR179):c.278del (p.Pro93fs) rs794726685
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs) rs1567728372
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
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.1131dup (p.Lys378Ter)
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_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)
NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs) rs587776750
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs) rs587776749
NM_001011658.4(TRAPPC2):c.1A>T (p.Met1Leu) rs1602717698
NM_001011658.4(TRAPPC2):c.216_217del (p.Ser73fs) rs2046290303
NM_001011658.4(TRAPPC2):c.225del (p.Phe75fs)
NM_001011658.4(TRAPPC2):c.238+4T>C rs587776753
NM_001011658.4(TRAPPC2):c.239-10_239-7del rs2146773091
NM_001011658.4(TRAPPC2):c.239-11_239-9del rs587777330
NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs) rs1602708047
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser) rs104894948
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs) rs587776751
NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter) rs104894949
NM_001011658.4(TRAPPC2):c.387del (p.Val130fs) rs587776754
NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter) rs122460156
NM_001011658.4(TRAPPC2):c.40del (p.Asp14fs) rs1602717625
NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer) rs587776748
NM_001011658.4(TRAPPC2):c.91A>T (p.Lys31Ter)
NM_001011658.4(TRAPPC2):c.93+5G>A rs587776752
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_001034853.2(RPGR):c.1379del (p.Leu460fs) rs2147227522
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2512del (p.Glu838fs) rs2147197281
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
NM_001034853.2(RPGR):c.597T>G (p.Tyr199Ter)
NM_001034853.2(RPGR):c.934G>A (p.Asp312Asn)
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.2026C>T (p.Gln676Ter) rs2062675453
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.260del (p.Pro87fs) rs1601957478
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.6278T>A (p.Leu2093His) rs587777317
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_001039591.3(USP9X):c.7526del (p.Gln2509fs) rs587777318
NM_001042750.2(STAG2):c.1412_1416+9del rs2148280047
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter) rs1569507848
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter) rs1317614761
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter) rs2057753419
NM_001042750.2(STAG2):c.867del (p.Phe289fs)
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_001082486.2(ACD):c.244GAG[1] (p.Glu83del) rs1277350671
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001082486.2(ACD):c.361del (p.Asp121fs) rs1303559181
NM_001097642.3(GJB1):c.-16-511G>C rs2147944334
NM_001097642.3(GJB1):c.-16-513T>G rs1003232768
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
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.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) rs2148116288
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) rs2067741257
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
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.2280+266_2827-25delinsTG
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.4660G>A (p.Gly1554Arg) rs1603360542
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.862G>A (p.Gly288Arg) rs267606816
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.538C>T (p.Arg180Ter) rs61748421
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_001111125.3(IQSEC2):c.1048del (p.Ala350fs) rs2074443766
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) rs267607188
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs) rs1602291861
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter) rs1602291658
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter) rs2147121012
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter) rs2147103761
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs) rs2074383129
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs) rs1556863492
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter) rs1569302816
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) rs2074381038
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs) rs1556863435
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter) rs2074379209
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs) rs1556863398
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs) rs2074374579
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs) rs2074373583
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs) rs1556863165
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs) rs1602283534
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs) rs2074369642
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
NM_001111125.3(IQSEC2):c.2225G>A (p.Trp742Ter) rs2147096776
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) rs267607189
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter) rs2147089995
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs) rs2147089642
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) rs875989799
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter) rs1569300687
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) rs267607187
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr) rs1060499660
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2582+2T>C rs1569300277
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.2819_2823dup (p.Arg942fs) rs2074254630
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs) rs2147059978
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.3016-1G>T
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs) rs2074181394
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs) rs1602264294
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter) rs2147032671
NM_001111125.3(IQSEC2):c.3116-3_3116-2del rs797045140
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs) rs2147026571
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp)
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter) rs1556859652
NM_001111125.3(IQSEC2):c.3452-1G>A rs2147010401
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs) rs2147003883
NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs) rs1569291627
NM_001111125.3(IQSEC2):c.3973dup (p.His1325fs)
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs) rs2147001369
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs) rs2074091750
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs) rs2147000428
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs) rs2146999877
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs) rs2146999914
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs) rs1556858912
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs) rs1602383045
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) rs1556880284
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs) rs2146548468
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs) rs2146547822
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs) rs1556865104
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001111125.3(IQSEC2):c.863del (p.Val288fs) rs1556865060
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs) rs1602293475
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001139498.2(FGF13):c.-32C>G
NM_001145073.3(USP27X):c.1026_1030del (p.Ser342fs) rs886038210
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter) rs2147224405
NM_001145073.3(USP27X):c.1141T>C (p.Tyr381His) rs886038211
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
NM_001159699.2(FHL1):c.108del (p.Gln37fs) rs1060502840
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) rs2073860048
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter) rs777580253
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
NM_001159699.2(FHL1):c.288del (p.Phe96fs) rs2148373432
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg) rs2073864792
NM_001159699.2(FHL1):c.360dup (p.Phe121fs) rs1556638935
NM_001159699.2(FHL1):c.379+1G>A rs2073866799
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) rs1569530437
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter) rs122458140
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001159699.2(FHL1):c.414del (p.Trp138fs) rs2148375686
NM_001159699.2(FHL1):c.416A>G (p.His139Arg) rs267606812
NM_001159699.2(FHL1):c.417C>A (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.417C>G (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs) rs2073885767
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.441del (p.Cys148fs) rs2148375860
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs) rs1556639151
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) rs1603271659
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) rs122459146
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser) rs122458144
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) rs122458144
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter) rs2148371451
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter) rs1603272191
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter) rs1191211949
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001159699.2(FHL1):c.618del (p.Cys207fs) rs2148378462
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter) rs1603272223
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs) rs2073913069
NM_001159699.2(FHL1):c.661dup (p.Asp221fs) rs1556639379
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs) rs1603272263
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.708_736+22del rs2148378774
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>A rs786200914
NM_001159699.2(FHL1):c.736+1G>C rs786200914
NM_001159699.2(FHL1):c.736+2T>G rs2073916521
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) rs1603273685
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs) rs2148383945
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) rs1603273697
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr) rs2148384040
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) rs122459148
NM_001159702.3(FHL1):c.838G>A (p.Val280Met) rs267606811
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs) rs2148096182
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) rs2148112149
NM_001167.4(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter) rs2053346219
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) rs2053346343
NM_001167.4(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.4(XIAP):c.371del (p.Arg124fs)
NM_001167.4(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.4(XIAP):c.421_422del (p.Leu141fs) rs2053348573
NM_001167.4(XIAP):c.446dup (p.Ser150fs) rs2053348979
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
NM_001167.4(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter) rs2053350325
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del) rs2148089962
NM_001167.4(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001167.4(XIAP):c.60del (p.Glu21fs) rs2148089318
NM_001167.4(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
NM_001167.4(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.4(XIAP):c.755dup (p.Asn252fs) rs2148090158
NM_001167.4(XIAP):c.894_898del (p.Lys299fs) rs2148092759
NM_001167.4(XIAP):c.921_924del (p.Thr308fs) rs2148092792
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.4(XIAP):c.978-2A>G rs2148096152
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
NM_001169122.2(AFF2):c.-460GCC[6_25] rs193922937
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.986_987del (p.His329fs)
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_001243197.1(IQSEC2):c.123-2226_*20117dup
NM_001252024.2(TRPM1):c.1089+3_1089+6del rs772011426
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter) rs1195734631
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter) rs786205113
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter) rs267607140
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs) rs2031777349
NM_001252024.2(TRPM1):c.482del (p.Gly161fs) rs1226505973
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter) rs267607141
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs) rs2065808928
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs) rs2147916504
NM_001256789.3(CACNA1F):c.1877+1G>T rs2147916480
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
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.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) rs2065717735
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_001256789.3(CACNA1F):c.3598-133_3709-76del rs2147900556
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) rs1602630650
NM_001256789.3(CACNA1F):c.4260+2del rs2065655753
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs) rs2147895629
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
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.-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_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1703+5G>A
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) rs879253715
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.3046+1G>A rs1557090220
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
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_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)
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_001318510.2(ACSL4):c.802del (p.Leu268fs) rs2147437405
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) rs137853165
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) rs137853168
NM_001320752.2(STS):c.1241+1G>T rs1601748137
NM_001320752.2(STS):c.1316A>G (p.His439Arg) rs137853169
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) rs137853166
NM_001320752.2(STS):c.272G>A (p.Trp91Ter) rs1463414987
NM_001325.3(CSTF2):c.149A>C (p.Asp50Ala)
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_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) rs1931281945
NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter) rs199422240
NM_001330574.2(ZNF711):c.2192del (p.Phe731fs) rs1060505032
NM_001330574.2(ZNF711):c.2265_2266del (p.Cys755_Glu756delinsTer) rs1603009115
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001353812.2(ATP11C):c.1666+2T>C rs2148723294
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.1135_1136del (p.Met379fs)
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.1354A>T (p.Lys452Ter)
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_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.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
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.203A>G (p.His68Arg) rs1557264102
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_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.1A>G (p.Met1Val)
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.704_708delATAAG (p.Lys236fs)
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_001368397.1(FRMPD4):c.1411G>T (p.Glu471Ter)
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001368397.1(FRMPD4):c.1851del (p.Cys618fs) rs886038208
NM_001368397.1(FRMPD4):c.856C>T (p.Arg286Ter) rs1569057837
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) rs1574785867
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) rs1684878263
NM_001378477.3(NYX):c.266G>C (p.Arg89Pro) rs104894910
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr) rs104894911
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter) rs62637021
NM_001399.4(EDA):c.(?_-115)_(174_?)del
NM_001399.4(EDA):c.(?_397)_(502_?)del
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
NM_001399.4(EDA):c.(?_707)_(741_?)del
NM_001399.4(EDA):c.(?_925)_(1176_?)del
NM_001399.5(EDA):c.-36_47del (p.Met1fs) rs1931920527
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter) rs191378148
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp) rs876657639
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) rs1556110934
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) rs2020255486
NM_001399.5(EDA):c.1119G>A (p.Met373Ile)
NM_001399.5(EDA):c.1119G>T (p.Met373Ile)
NM_001399.5(EDA):c.1133C>T (p.Thr378Met) rs1569407346
NM_001399.5(EDA):c.1136T>C (p.Phe379Ser) rs2147519384
NM_001399.5(EDA):c.1144del (p.Ala382fs)
NM_001399.5(EDA):c.11del (p.Pro4fs) rs1602221405
NM_001399.5(EDA):c.132_135dup (p.Phe46fs) rs727505089
NM_001399.5(EDA):c.134G>A (p.Gly45Asp) rs1931938364
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) rs1569272203
NM_001399.5(EDA):c.180C>A (p.Cys60Ter) rs1131692034
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.1A>G (p.Met1Val) rs2147196982
NM_001399.5(EDA):c.213del (p.Glu71fs) rs2147197808
NM_001399.5(EDA):c.216_220del (p.Gly73fs) rs2147197831
NM_001399.5(EDA):c.223G>T (p.Glu75Ter) rs2147197866
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) rs1555972067
NM_001399.5(EDA):c.239dup (p.Ser81fs) rs1555972071
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001399.5(EDA):c.271dup (p.Ser91fs) rs1931956776
NM_001399.5(EDA):c.272dup (p.Ser91fs) rs397516656
NM_001399.5(EDA):c.286del (p.Leu96fs)
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
NM_001399.5(EDA):c.2T>C (p.Met1Thr) rs397516659
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
NM_001399.5(EDA):c.319_322dup (p.Gln108fs) rs876657684
NM_001399.5(EDA):c.326dup (p.Ser110fs) rs2147198269
NM_001399.5(EDA):c.329C>A (p.Ser110Ter) rs397516660
NM_001399.5(EDA):c.347T>A (p.Leu116Ter) rs397516661
NM_001399.5(EDA):c.396+1G>A rs727504537
NM_001399.5(EDA):c.396+2T>G rs727504814
NM_001399.5(EDA):c.396+4dup rs1569272528
NM_001399.5(EDA):c.397-1G>C
NM_001399.5(EDA):c.413_416del (p.Phe138fs) rs2019017595
NM_001399.5(EDA):c.441dup (p.Glu148Ter) rs2147419086
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.459dup (p.Val154fs) rs1569384962
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.467G>T (p.Arg156Leu) rs132630314
NM_001399.5(EDA):c.474A>C (p.Lys158Asn) rs727504649
NM_001399.5(EDA):c.479G>A (p.Ser160Asn) rs1556039088
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001399.5(EDA):c.492del (p.Gly165fs) rs2019019815
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
NM_001399.5(EDA):c.502+1G>A rs727505013
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) rs1556092261
NM_001399.5(EDA):c.526+1G>A rs2147503858
NM_001399.5(EDA):c.527-2A>T rs1569404780
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del) rs2147509524
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001399.5(EDA):c.560dup (p.Pro188fs) rs1556098384
NM_001399.5(EDA):c.562_589del (p.Pro188fs) rs397516667
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.572del (p.Pro191fs)
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.576_592del (p.Pro193fs) rs2147509622
NM_001399.5(EDA):c.585_697del (p.Pro196fs) rs2147509660
NM_001399.5(EDA):c.589del (p.Gln197fs) rs2020137674
NM_001399.5(EDA):c.58C>T (p.Arg20Ter)
NM_001399.5(EDA):c.595_613del (p.Pro199fs) rs2147509712
NM_001399.5(EDA):c.599del (p.Pro200fs) rs1556098570
NM_001399.5(EDA):c.599dup (p.Gly201fs) rs1556098570
NM_001399.5(EDA):c.602G>A (p.Gly201Glu) rs2147509771
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) rs1602618255
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.614_699del (p.Ile205fs) rs2147509775
NM_001399.5(EDA):c.619G>A (p.Gly207Arg) rs2147509825
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.628G>A (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.628G>T (p.Gly210Ter) rs1556098733
NM_001399.5(EDA):c.632C>G (p.Thr211Arg) rs2147509853
NM_001399.5(EDA):c.643G>T (p.Gly215Ter) rs2147509886
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
NM_001399.5(EDA):c.659C>T (p.Pro220Leu) rs2147509932
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.660_668del (p.217PGP[2])
NM_001399.5(EDA):c.662G>A (p.Gly221Asp)
NM_001399.5(EDA):c.663_697del (p.Pro222fs) rs397516670
NM_001399.5(EDA):c.670G>C (p.Gly224Arg) rs1602618398
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.673_706+2del rs2020140911
NM_001399.5(EDA):c.676C>T (p.Gln226Ter) rs727503007
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.681_697del (p.Pro228fs) rs1556098978
NM_001399.5(EDA):c.686dup (p.Gly230fs) rs1602618442
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.706+1G>C rs886039344
NM_001399.5(EDA):c.706+5G>T rs780966428
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001399.5(EDA):c.707-2A>T rs2147511696
NM_001399.5(EDA):c.720del (p.Ala241fs)
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001399.5(EDA):c.741G>A (p.Gln247=) rs886042183
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001399.5(EDA):c.766C>T (p.Gln256Ter) rs727504417
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.801A>G (p.Ser267=) rs2147516275
NM_001399.5(EDA):c.809del (p.Val270fs) rs727503008
NM_001399.5(EDA):c.822G>A (p.Trp274Ter) rs397516675
NM_001399.5(EDA):c.822del (p.Trp274fs) rs397516676
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.827G>T (p.Arg276Leu) rs1057517731
NM_001399.5(EDA):c.837G>A (p.Met279Ile)
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.865del (p.Arg289fs)
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.871G>C (p.Gly291Arg)
NM_001399.5(EDA):c.872G>A (p.Gly291Glu) rs886042021
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) rs1602622972
NM_001399.5(EDA):c.883del (p.Val295fs)
NM_001399.5(EDA):c.889_898del (p.Val297fs)
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.896G>A (p.Gly299Asp) rs2147516523
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
NM_001399.5(EDA):c.912_913dup (p.Ser305fs) rs1569406514
NM_001399.5(EDA):c.916C>T (p.Gln306Ter) rs2147516557
NM_001399.5(EDA):c.917A>C (p.Gln306Pro)
NM_001399.5(EDA):c.924+1G>A rs2147516572
NM_001399.5(EDA):c.924+4A>T
NM_001399.5(EDA):c.948del (p.Phe317fs) rs727503010
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) rs876657687
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) rs397516682
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.5(EDA):c.986T>C (p.Phe329Ser) rs1569407150
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) rs727503011
NM_001399.5(EDA):c.998C>G (p.Thr333Arg) rs1556110379
NM_001399.5(EDA):c.[866G>C;868A>T]
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_001493.3(GDI1):c.1060_1064del (p.Ser354fs) rs2068755805
NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer) rs2068757385
NM_001493.3(GDI1):c.1186_1187del (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_001551.3(IGBP1):c.-57_-55delinsAA rs2147562704
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.2407dup (p.His803fs) rs1603404297
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.3550C>T (p.Arg1184Ter) rs1220996970
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs) rs398122921
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_002024.6(FMR1):c.-128GGC[55_200]
NM_002024.6:c.-128GGM[55_?]
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_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)
NM_002351.5(SH2D1A):c.-10C>T rs1603236465
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
NM_002351.5(SH2D1A):c.137+5G>C rs587777612
NM_002351.5(SH2D1A):c.138-1G>A
NM_002351.5(SH2D1A):c.138-1G>T rs1603238847
NM_002351.5(SH2D1A):c.149_201+106del
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)
NM_002351.5(SH2D1A):c.201+1G>A
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys) rs1569527111
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) rs2147534047
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
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_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_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.4(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly) rs587777150
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_003179.3(SYP):c.177_178delinsGT (p.Asn59_Lys60delinsLysTer) rs2147884161
NM_003179.3(SYP):c.274dup (p.Thr92fs) rs2147882650
NM_003179.3(SYP):c.649G>C (p.Gly217Arg) rs137852561
NM_003179.3(SYP):c.829_832del (p.Asp277fs) rs2065508863
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_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) rs781767722
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys) rs2033690347
NM_004176.5(SREBF1):c.1582_1584del (p.Asn528del) rs2033689385
NM_004176.5(SREBF1):c.1589T>C (p.Leu530Pro) rs2033688284
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_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
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_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552
NM_004463.3(FGD1):c.1695+1G>A rs1922506770
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1843-1G>A rs1601950553
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.2192del (p.Lys731fs)
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.545del (p.Pro182fs) rs1922869724
NM_004463.3(FGD1):c.679del (p.Ser227fs) rs1922859149
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255
NM_004586.3(RPS6KA3):c.1000-2A>G rs2148664125
NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp) rs122454129
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) rs2148662359
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs) rs797045920
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.1740del (p.Cys579_Tyr580insTer) rs2148643497
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.343A>T (p.Thr115Ser) rs387906703
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.455GAG[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.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_004615.4(TSPAN7):c.289del (p.Leu97fs) rs2147452502
NM_004615.4(TSPAN7):c.572_573del (p.Val191fs)
NM_004615.4(TSPAN7):c.652G>T (p.Gly218Ter) rs104894950
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del) rs1555403793
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg) rs1555407654
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs) rs766780281
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_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.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs) rs431825172
NM_005391.5(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)
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.532dup (p.Ala178fs)
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_006579.3(EBP):c.141G>T (p.Trp47Cys) rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) rs587783600
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.203G>A (p.Trp68Ter) rs2061771803
NM_006579.3(EBP):c.225dup (p.His76fs) rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His) rs587783609
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) rs587783613
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) rs1602090481
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) rs797045544
NM_006579.3(EBP):c.338+1G>C rs1569479885
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs) rs1569479901
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs) rs587783615
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.484dup (p.Asp162fs) rs797045547
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) rs104894793
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) rs104894794
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798
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.236C>G (p.Ser79Trp) rs2057941303
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.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.980+43_981del
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_012216.4(MID2):c.1447del (p.Ser483fs) rs1602511836
NM_012280.4(FTSJ1):c.121+1del
NM_012280.4(FTSJ1):c.192-2A>G rs1602048728
NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) rs1602048836
NM_012280.4(FTSJ1):c.256del (p.Val86fs) rs2061548936
NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn)
NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG rs1555949612
NM_012310.5(KIF4A):c.1616T>C (p.Leu539Pro)
NM_012310.5(KIF4A):c.1674+1G>A
NM_012310.5(KIF4A):c.1745T>A (p.Leu582His) rs1045363046
NM_012310.5(KIF4A):c.763G>A (p.Asp255Asn)
NM_014271.4(IL1RAPL1):c.1191_1201+6del
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.87dup (p.Gly30fs) rs1569308571
NM_014332.3(SMPX):c.99del (p.Arg34fs) rs398122930
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_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_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_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_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_020061.6(OPN1LW):c.269G>A (p.Trp90Ter) rs2067071714
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
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_021120.4(DLG3):c.-8dup
NM_021120.4(DLG3):c.1092dup (p.Thr365fs) rs398122846
NM_021120.4(DLG3):c.1302+1G>A rs1373474125
NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) rs398122847
NM_021120.4(DLG3):c.2266C>T (p.Arg756Ter) rs2147892965
NM_021120.4(DLG3):c.357+1G>C rs587777359
NM_021120.4(DLG3):c.985+1G>C rs587777360
NM_021120.4(DLG3):c.985+5G>A rs2147771642
NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter) rs1556220029
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) rs2053171807
NM_022101.4(STEEP1):c.598C>T (p.Gln200Ter) rs1188300105
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) rs62637027
NM_023934.4(FUNDC2):c.-2_133+51del rs2073793798
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_030624.3(KLHL15):c.1179del (p.Tyr394fs) rs1929024034
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_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg) rs2073064247
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys) rs2124181878
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter) rs2073068605
NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys) rs2124163845
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val) rs869025334
NM_033380.3(COL4A5):c.1033-1G>A rs2066339336
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1132_1138del (p.Ile378fs) rs1569492147
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys) rs2066342908
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1340-2A>G rs104886319
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs) rs2147798059
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs) rs104886113
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) rs1603287820
NM_033380.3(COL4A5):c.141+1G>A rs2065509989
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs) rs2147798228
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1424-2A>C rs759179999
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys) rs1569493662
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
NM_033380.3(COL4A5):c.1483dup (p.Gln495fs) rs1556411631
NM_033380.3(COL4A5):c.153del (p.Pro53fs) rs2147722166
NM_033380.3(COL4A5):c.1545_1546del (p.Glu516fs) rs2147809078
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) rs104886121
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp) rs104886122
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp) rs281874671
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs) rs1603290131
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp) rs1603290148
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter) rs368137679
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu) rs2147813326
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg) rs1569494304
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.188dup (p.Phe64fs) rs1603276159
NM_033380.3(COL4A5):c.1902del (p.Gly635fs) rs1603290763
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val) rs281874683
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser) rs104886147
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter) rs1603290796
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs) rs1603291770
NM_033380.3(COL4A5):c.1A>G (p.Met1Val) rs104886050
NM_033380.3(COL4A5):c.2016_2020dup (p.Asp674fs) rs2147819501
NM_033380.3(COL4A5):c.2039del (p.Pro680fs) rs2066627184
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg) rs1603292021
NM_033380.3(COL4A5):c.2048del (p.Pro683fs) rs1060499694
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp) rs2147820991
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser) rs104886161
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
NM_033380.3(COL4A5):c.225del (p.Gln76fs) rs1603276180
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs) rs1603293553
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) rs1603293570
NM_033380.3(COL4A5):c.232-2A>G rs2065933012
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) rs2066736770
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2395+1G>A rs869025331
NM_033380.3(COL4A5):c.2395+2T>A rs1603293639
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) rs2147850123
NM_033380.3(COL4A5):c.2509+2T>G rs1569497030
NM_033380.3(COL4A5):c.2510-1G>T rs770451831
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) rs1603297334
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp) rs869025332
NM_033380.3(COL4A5):c.2766del (p.Gly923fs) rs886039890
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) rs2147865716
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs) rs2067083148
NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)
NM_033380.3(COL4A5):c.2917+1G>A rs104886371
NM_033380.3(COL4A5):c.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.2917+2T>A
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter) rs2147869275
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys) rs1569469409
NM_033380.3(COL4A5):c.3016+1G>A
NM_033380.3(COL4A5):c.3032del (p.Pro1011fs)
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3119_3120delinsA (p.Val1040fs) rs2067151490
NM_033380.3(COL4A5):c.311del (p.Pro104fs) rs1603278993
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs) rs1569499015
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter) rs104886217
NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter) rs104886213
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.321+2T>G rs1603279005
NM_033380.3(COL4A5):c.322-1G>T rs104886375
NM_033380.3(COL4A5):c.3247-1G>A rs1569504056
NM_033380.3(COL4A5):c.3295del (p.Ser1099fs) rs1603306718
NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter) rs1556439394
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) rs104886225
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter) rs104886225
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_033380.3(COL4A5):c.3455-9A>G rs104886388
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter) rs1603310370
NM_033380.3(COL4A5):c.347del (p.Pro116fs) rs2147746687
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg) rs104886235
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu) rs1603310380
NM_033380.3(COL4A5):c.3487_3488delinsG (p.Pro1163fs) rs1057516187
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter) rs2068084185
NM_033380.3(COL4A5):c.3604+2T>A rs1569505613
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) rs1569505758
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) rs1290001124
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser) rs1603311030
NM_033380.3(COL4A5):c.3791-41A>G
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del) rs1556451235
NM_033380.3(COL4A5):c.385-716G>A
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs) rs2068332131
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs) rs2147975121
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs) rs2147980448
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4088-2A>G
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs) rs2068436110
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs) rs1603318154
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs) rs1603318143
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs) rs1603323174
NM_033380.3(COL4A5):c.438+1G>A rs1603279819
NM_033380.3(COL4A5):c.439-1G>A rs2147754967
NM_033380.3(COL4A5):c.4432del (p.Asp1478fs)
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter) rs1603323278
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter) rs1603323355
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg) rs2147991725
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs) rs1603326397
NM_033380.3(COL4A5):c.4628dup (p.Tyr1543Ter) rs2147998586
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) rs104886293
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.465+2T>G rs2066070104
NM_033380.3(COL4A5):c.4706+1G>T rs1569508998
NM_033380.3(COL4A5):c.4706+2T>C rs2147998807
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs) rs1603328025
NM_033380.3(COL4A5):c.4763del (p.Gln1588fs) rs1057516203
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter) rs2148001657
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs) rs1569509234
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) rs104886299
NM_033380.3(COL4A5):c.4822-10T>C
NM_033380.3(COL4A5):c.4822-1G>T rs1603328372
NM_033380.3(COL4A5):c.4900_4903del (p.Pro1634fs) rs886039886
NM_033380.3(COL4A5):c.4925_4986del (p.Gly1642fs) rs2068717187
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs) rs2148002538
NM_033380.3(COL4A5):c.4994+1G>A
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.546+1G>A rs104886429
NM_033380.3(COL4A5):c.546+2T>G rs2066101487
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
NM_033380.3(COL4A5):c.569_570del (p.Ile190fs) rs1556405010
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp) rs104886061
NM_033380.3(COL4A5):c.609+1G>A rs104886434
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) rs2066183255
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.82-1G>A
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser) rs869025333
NM_033380.3(COL4A5):c.834+2T>G rs1569490932
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.835-9T>A
NM_033380.3(COL4A5):c.845dup (p.Gly283fs) rs2147776527
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.917del (p.Asn306fs) rs2066237678
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) rs104886091
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_139058.2(ARX):c.304_305ins21 (p.?)
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1120-2A>G rs2147320644
NM_139058.3(ARX):c.1120-82_1469dup
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) rs2147320638
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) rs2048682798
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) rs2048682045
NM_139058.3(ARX):c.1337dup (p.Pro447fs) rs797045291
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) rs587783189
NM_139058.3(ARX):c.1443dup (p.Gly482fs) rs2147320305
NM_139058.3(ARX):c.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.1497del (p.Leu500fs)
NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) rs1601945626
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.26dup (p.Cys10fs) rs2147325489
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.335_368del (p.Ala112fs) rs587783199
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
NM_139058.3(ARX):c.409del (p.Glu137fs)
NM_139058.3(ARX):c.409dup (p.Glu137fs) rs797045298
NM_139058.3(ARX):c.424_455del (p.Ala142fs) rs2147324181
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup) rs1556056154
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.502_503dup (p.Ser168fs) rs2147324110
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter) rs1601948603
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.642_645del (p.Pro215fs) rs2147323943
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) rs2048708701
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) rs111033612
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp) rs104893740
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) rs786205854
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu) rs786205853
NM_145200.3(CABP4):c.800_801delAG rs786205249
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter) rs745382789
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs) rs1590998813
NM_145200.5(CABP4):c.65del (p.Pro22fs) rs775166854
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs) rs786205852
NM_153252.5(BRWD3):c.2864C>G (p.Ala955Gly)
NM_153252.5(BRWD3):c.3200_3201del (p.Val1067fs) rs1602311804
NM_153252.5(BRWD3):c.3325+1G>T rs730882185
NM_153252.5(BRWD3):c.3413G>T (p.Trp1138Leu) rs2147693460
NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter) rs878853055
NM_153252.5(BRWD3):c.3976C>T (p.Arg1326Ter) rs866592729
NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu) rs137853272
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) rs1057518650
NM_153252.5(BRWD3):c.828_829dup (p.Lys277fs)
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.559G>T (p.Glu187Ter) rs1557314191
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs) rs1569118680
NM_181672.3(OGT):c.1016A>G (p.Glu339Gly) rs1602147880
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) rs1602152230
NM_181672.3(OGT):c.463-6T>G rs943295842
NM_181672.3(OGT):c.762G>C (p.Leu254Phe) rs1131692155
NM_181672.3(OGT):c.762G>T (p.Leu254Phe) rs1131692155
NM_181672.3(OGT):c.775G>A (p.Ala259Thr) rs797044898
NM_181672.3(OGT):c.851G>C (p.Arg284Pro) rs1114167891
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter) rs2125900955
NM_201599.3(ZMYM3):c.1332G>A (p.Lys444=)
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys) rs879255361
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
NR0B1, 1-BP INS, 430G
PHEX, A-G, NT-429
RPS6KA3, 187-BP DEL, NT406
Single allele
WAS, 15,800-BP DEL
t(X;19)(p21.2;q13.41)dn
t(X;3)(q13.3;q11.2)dn

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