List of variants reported as likely pathogenic for X-linked disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2109

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)	rs141925556	0.00064
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)	rs144722432	0.00053
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)	rs201424543	0.00049
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)	rs41298474	0.00038
NM_001011658.4(TRAPPC2):c.-97G>A	rs746032983	0.00034
NM_000132.4(F8):c.396A>C (p.Glu132Asp)	rs137852388	0.00018
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	rs28933673	0.00014
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)	rs202219398	0.00012
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	rs80338711	0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	rs369414658	0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	rs757996262	0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)	rs765417606	0.00009
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)	rs149595793	0.00007
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)	rs782157913	0.00006
NM_000166.6(GJB1):c.37G>A (p.Val13Met)	rs104894820	0.00006
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)	rs782635828	0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)	rs942909873	0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)	rs1269514277	0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)	rs180869804	0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)	rs184474885	0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)	rs753666055	0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000132.4(F8):c.1700T>C (p.Ile567Thr)	rs782193428	0.00003
NM_000132.4(F8):c.248C>G (p.Pro83Arg)	rs781974394	0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)	rs781876217	0.00003
NM_001004334.4(GPR179):c.4550dup (p.Met1517fs)	rs756928373	0.00003
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)	rs2067110688	0.00003
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)	rs1204814114	0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser)	rs782657516	0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	rs111033614	0.00002
NM_000132.4(F8):c.5999-11G>A	rs782132907	0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)	rs387906862	0.00002
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr)	rs368138282	0.00002
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)	rs724160019	0.00002
NM_012216.4(MID2):c.1432C>T (p.Arg478Ter)	rs200917006	0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_033380.3(COL4A5):c.231+2T>C	rs763538451	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)	rs137852304	0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)	rs128624215	0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)	rs1159943880	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)	rs782293513	0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	rs782487174	0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)	rs782083931	0.00001
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)	rs145946864	0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys)	rs782806507	0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser)	rs137852393	0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)	rs1046670041	0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	rs1490417405	0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)	rs200433372	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.6623A>G (p.Gln2208Arg)	rs782198570	0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His)	rs1047644991	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_000166.6(GJB1):c.320G>A (p.Arg107Gln)	rs1383588318	0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)	rs760042062	0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928	0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	rs61752067	0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	rs61753171	0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His)	rs281865355	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.148C>T (p.Gln50Ter)	rs767430727	0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	rs797045044	0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)	rs763546583	0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)	rs1485132228	0.00001
NM_001252024.2(TRPM1):c.279+147T>G	rs150441866	0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	rs886039559	0.00001
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn)	rs774419889	0.00001
NM_003179.3(SYP):c.2T>C (p.Met1Thr)	rs1557103814	0.00001
NM_003491.4(NAA10):c.469G>A (p.Glu157Lys)	rs1557107264	0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	rs397516871	0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068	0.00001
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp)	rs146232504	0.00001
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)	rs724160023	0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)	rs724160017	0.00001
NM_004727.3(SLC24A1):c.2884-1G>C	rs766014688	0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	rs2092288110	0.00001
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp)	rs780269723	0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln)	rs941190653	0.00001
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)	rs183018401	0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)	rs750972972	0.00001
NM_015107.3(PHF8):c.1731-2A>G	rs1437750762	0.00001
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys)	rs1555988314	0.00001
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala)	rs1569488381	0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)	rs865842167	0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)	rs143481438	0.00001
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val)	rs863224851	0.00001
GRCh37/hg19 Xp22.11-21.3(chrX:24823572-25117528)x2
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
GRCh37/hg19 Xq24(chrX:118544103-118676607)x0
GRCh38/hg38 Xp22.11(chrX:22072604-22125554)x3
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NC_000023.10:g.(?_135292010)_(135292184_?)del
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.10:g.(?_149761093)_(149767213_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149818176)_(149818384_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_153002694)_153020558del
NC_000023.10:g.(?_47432243)_(47436920_?)del
NC_000023.10:g.(?_62875364)_(62944601_?)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NC_000023.10:g.(?_99596881)_(99597093_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.150649717_150649723del
NC_000023.11:g.86047630G>A	rs2147819369
NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)	rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)	rs2146715075
NM_000032.5(ALAS2):c.304+2T>A
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)	rs1603233120
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)	rs2091726796
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)	rs2091726809
NM_000033.4(ABCD1):c.102del (p.Leu35fs)	rs2148388645
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
NM_000033.4(ABCD1):c.1081+1G>C
NM_000033.4(ABCD1):c.1082-1G>A	rs1557054153
NM_000033.4(ABCD1):c.10dup (p.Leu4fs)	rs2091702447
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)	rs1603234466
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.1186G>A (p.Ala396Thr)	rs1569541006
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	rs128624220
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
NM_000033.4(ABCD1):c.125del (p.Pro42fs)	rs2148388674
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)	rs193922093
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1394-2_1404del
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)	rs2148396070
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)	rs2091753125
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)	rs1603235267
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)	rs2091762267
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)	rs2148397545
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)	rs1569541087
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)	rs2148397558
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)	rs1569541088
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)	rs2148397565
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)	rs2091762647
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)	rs193922094
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)	rs1557054776
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	rs1557054776
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)	rs2091763089
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)	rs2091764510
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)	rs2091764526
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)	rs398123105
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)	rs2148397936
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)	rs1603235421
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)	rs2091764754
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	rs398123106
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
NM_000033.4(ABCD1):c.1781-2A>G
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)	rs2148399015
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)	rs201774661
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)	rs2091772324
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)	rs1557055253
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)	rs2091772331
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)	rs78993751
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)	rs1557055260
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)	rs2148399060
NM_000033.4(ABCD1):c.1865+1G>A	rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.1866-1G>A	rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C	rs1557055311
NM_000033.4(ABCD1):c.1866-2A>T
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	rs1557055316
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)	rs2148399201
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)	rs2148399208
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	rs782041940
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)	rs1603236012
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)	rs1603236020
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)	rs1557055337
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	rs1557055340
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)	rs886044882
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)	rs2091775068
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)	rs1603236086
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)	rs1557055398
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)	rs1569541207
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)	rs1557055405
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)	rs2091775375
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)	rs868953385
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)	rs1569540680
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)	rs1603231784
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)	rs2091705296
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
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.320T>C (p.Leu107Pro)	rs1569540688
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)	rs1603231848
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)	rs1557052351
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)	rs1603231911
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)	rs1557052362
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)	rs1557052362
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)	rs1569540693
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	rs1569540693
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)	rs1569540695
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)	rs1057517954
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)	rs1057517954
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)	rs1557052390
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro)	rs2091708025
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)	rs2091708534
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)	rs1569540703
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	rs1569540704
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)	rs2091708827
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)	rs864309520
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)	rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)	rs2091709142
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)	rs2091709198
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)	rs2091709505
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del)	rs2091710358
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	rs1131691743
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)	rs2091710960
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)	rs128624218
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)	rs1569540665
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)	rs1603232195
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)	rs1603232195
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)	rs2091711473
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
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.839G>C (p.Arg280Pro)	rs781904944
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)	rs1557052555
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)	rs782509393
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)	rs2091711722
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)	rs782334088
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)	rs2148389975
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)	rs2091712008
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)	rs1603232237
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)	rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)	rs1603232243
NM_000033.4(ABCD1):c.900+2T>C	rs2091712381
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)	rs1569540743
NM_000033.4(ABCD1):c.901-9_903del	rs2148391889
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met)	rs2091726242
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)	rs2091726251
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)	rs2148391915
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)	rs941503814
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)	rs1557053241
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter)	rs1272438892
NM_000047.3(ARSL):c.1289+1G>A	rs2147349066
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)	rs2147394157
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)	rs122460152
NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)
NM_000047.3(ARSL):c.991+2T>C
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
NM_000052.7(ATP7A):c.1544-1G>C	rs797045331
NM_000052.7(ATP7A):c.1544-2A>T	rs2077751404
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
NM_000052.7(ATP7A):c.2172+5G>A	rs797045347
NM_000052.7(ATP7A):c.2172+5G>C	rs797045347
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)	rs2149095964
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
NM_000052.7(ATP7A):c.2498+2T>G	rs797045357
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2916+3A>T	rs2149100212
NM_000052.7(ATP7A):c.2916+3_2916+6del	rs797045364
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)	rs1557236729
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	rs797045365
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
NM_000052.7(ATP7A):c.348del (p.Ile118fs)
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
NM_000052.7(ATP7A):c.4005+1G>T	rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-1G>A	rs1557238665
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
NM_000052.7(ATP7A):c.610+2T>C
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	rs104894760
NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe)	rs1057518723
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	rs1557100594
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)	rs781950164
NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg)	rs782601647
NM_000054.7(AVPR2):c.522G>T (p.Gln174His)
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)	rs193922118
NM_000054.7(AVPR2):c.814A>G (p.Met272Val)	rs2064966794
NM_000054.7(AVPR2):c.816G>A (p.Met272Ile)	rs1603282342
NM_000054.7(AVPR2):c.993dup (p.Val332fs)
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)	rs104894774
NM_000074.3(CD40LG):c.189del (p.Phe63fs)	rs193922134
NM_000074.3(CD40LG):c.288+1G>A	rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)	rs2076113325
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys)	rs2148552406
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)	rs1603321148
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu)	rs886039326
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)	rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn)	rs1569377829
NM_000074.3(CD40LG):c.634del (p.His212fs)
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys)	rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)	rs1057521128
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
NM_000117.3(EMD):c.16del (p.Asp6fs)	rs1569552076
NM_000117.3(EMD):c.22del (p.Ser8fs)
NM_000117.3(EMD):c.266-3A>G	rs2148128459
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.406del (p.Asp136fs)	rs2148128715
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000117.3(EMD):c.662_663insT (p.Gln222fs)
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.82+1G>A	rs1557182214
NM_000132.4(F8):c.1120del (p.Met374fs)
NM_000132.4(F8):c.1169T>C (p.Ile390Thr)	rs2124106062
NM_000132.4(F8):c.1180del (p.Ala394fs)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1430G>T (p.Gly477Val)	rs2124105158
NM_000132.4(F8):c.1443+5G>A	rs1195283929
NM_000132.4(F8):c.1444-3C>G	rs1603435027
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)	rs1603435026
NM_000132.4(F8):c.1481T>G (p.Ile494Ser)	rs137852413
NM_000132.4(F8):c.1504G>T (p.Val502Phe)	rs2073393106
NM_000132.4(F8):c.1538-18G>A	rs1482306571
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)	rs137852424
NM_000132.4(F8):c.1825A>C (p.Asn609His)	rs2073350730
NM_000132.4(F8):c.1894del (p.Ile632fs)	rs1603434698
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1930T>G (p.Leu644Val)	rs2124082414
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.2101A>G (p.Met701Val)	rs2073313804
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.219C>G (p.Phe73Leu)	rs1603436770
NM_000132.4(F8):c.2627T>A (p.Leu876Ter)	rs2073195449
NM_000132.4(F8):c.262A>G (p.Met88Val)	rs782731044
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.2974_2977del (p.Phe992fs)	rs2124052011
NM_000132.4(F8):c.308T>C (p.Val103Ala)	rs2073621465
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter)	rs1060499784
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.377A>G (p.Lys126Arg)	rs1603436639
NM_000132.4(F8):c.3780del (p.Asp1260fs)	rs2124050215
NM_000132.4(F8):c.382T>C (p.Ser128Pro)	rs1603436638
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter)	rs2073182544
NM_000132.4(F8):c.403G>T (p.Asp135Tyr)	rs2073597882
NM_000132.4(F8):c.4379del (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.460A>G (p.Thr154Ala)	rs1603436436
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs)	rs886039906
NM_000132.4(F8):c.476T>A (p.Val159Asp)
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr)	rs2073173387
NM_000132.4(F8):c.509C>T (p.Pro170Leu)	rs2124140933
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5219G>T (p.Arg1740Met)	rs1444273117
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)	rs2124000594
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	rs137852445
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg)	rs2073029867
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr)	rs1603432996
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5586+2T>C
NM_000132.4(F8):c.5587-93C>T	rs1264918703
NM_000132.4(F8):c.55A>C (p.Ser19Arg)	rs2124174458
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg)	rs2123997081
NM_000132.4(F8):c.5724del (p.Trp1908fs)	rs2073026512
NM_000132.4(F8):c.5813A>G (p.His1938Arg)	rs1603432981
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)	rs1603432979
NM_000132.4(F8):c.5816-2A>G	rs2123996454
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe)	rs1411617809
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	rs28937294
NM_000132.4(F8):c.592T>G (p.Cys198Gly)	rs137852475
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
NM_000132.4(F8):c.5994del (p.Pro1999fs)
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala)	rs1603432913
NM_000132.4(F8):c.601G>A (p.Gly201Arg)	rs1229954426
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg)	rs2073013277
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln)	rs1444225681
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.605G>A (p.Ser202Asn)	rs1603436218
NM_000132.4(F8):c.606T>G (p.Ser202Arg)	rs1603436217
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly)	rs2123993603
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)	rs2123993600
NM_000132.4(F8):c.6273G>A (p.Lys2091=)	rs2148584915
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6274-2A>G
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn)	rs1603432784
NM_000132.4(F8):c.6301C>G (p.His2101Asp)	rs1603432783
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
NM_000132.4(F8):c.640T>G (p.Phe214Val)	rs2073563995
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)	rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.650T>C (p.Leu217Pro)	rs2124134359
NM_000132.4(F8):c.650T>G (p.Leu217Arg)	rs2124134359
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)	rs137852465
NM_000132.4(F8):c.6547A>G (p.Met2183Val)	rs781797728
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)	rs2148568062
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)	rs2148567338
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly)	rs2072694107
NM_000132.4(F8):c.665A>C (p.Asp222Ala)	rs137852396
NM_000132.4(F8):c.6678del (p.Ala2227fs)	rs1273763950
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)	rs2072692745
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu)	rs1174359623
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)	rs2072682503
NM_000132.4(F8):c.683A>C (p.His228Pro)
NM_000132.4(F8):c.6900+1G>C
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)	rs373079141
NM_000132.4(F8):c.6956dup (p.Leu2320fs)	rs1475873048
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)	rs2148555597
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)	rs137852474
NM_000132.4(F8):c.6975del (p.Arg2326fs)	rs2148555575
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys)	rs2072484280
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
NM_000132.4(F8):c.74A>G (p.Tyr25Cys)	rs2124174443
NM_000132.4(F8):c.755C>T (p.Thr252Ile)	rs1464962436
NM_000132.4(F8):c.784C>G (p.Pro262Ala)
NM_000132.4(F8):c.787+5G>C	rs1378662017
NM_000132.4(F8):c.797G>A (p.Gly266Glu)	rs137852398
NM_000132.4(F8):c.836T>G (p.Met279Arg)
NM_000132.4(F8):c.83_87del (p.Ala28fs)	rs1603437863
NM_000132.4(F8):c.853G>A (p.Val285Met)	rs2073444412
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
NM_000132.4(F8):c.901C>T (p.Arg301Cys)	rs1401805753
NM_000132.4(F8):c.967G>A (p.Gly323Arg)	rs2124109849
NM_000132.4(F8):c.979C>G (p.Leu327Val)	rs1603435395
NM_000132.4(F8):c.984T>G (p.Phe328Leu)	rs782668199
NM_000132.4(F8):c.986G>A (p.Cys329Tyr)	rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr)	rs2073442480
NM_000133.4(F9):c.1025C>T (p.Thr342Met)	rs137852254
NM_000133.4(F9):c.1069G>A (p.Gly357Arg)	rs137852257
NM_000133.4(F9):c.1106T>C (p.Leu369Pro)	rs1603267393
NM_000133.4(F9):c.724-5_731del	rs1603267163
NM_000133.4(F9):c.757G>A (p.Gly253Arg)	rs1603267181
NM_000133.4(F9):c.802T>A (p.Cys268Ser)	rs1603267194
NM_000133.4(F9):c.845A>G (p.His282Arg)	rs753654616
NM_000133.4(F9):c.88+1G>A	rs1603263397
NM_000133.4(F9):c.88+5G>T	rs1603263401
NM_000166.6(GJB1):c.*15C>T	rs1057520778
NM_000166.6(GJB1):c.-103C>T	rs863224971
NM_000166.6(GJB1):c.-16-2A>G	rs751230398
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)	rs1602348782
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)	rs1602348801
NM_000166.6(GJB1):c.127G>A (p.Val43Met)	rs1602348804
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)	rs1602348820
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)
NM_000166.6(GJB1):c.272T>A (p.Val91Glu)
NM_000166.6(GJB1):c.272T>C (p.Val91Ala)
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)	rs11551260
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	rs1602349280
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)	rs1555937166
NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)	rs1555937180
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)	rs1262031967
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)	rs1602349369
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
NM_000166.6(GJB1):c.455T>C (p.Val152Ala)
NM_000166.6(GJB1):c.467T>A (p.Leu156His)	rs104894818
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)	rs1057518780
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	rs104894811
NM_000166.6(GJB1):c.520C>G (p.Pro174Ala)	rs2147946493
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	rs1602349603
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)	rs1555937233
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)	rs1569215413
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)	rs1555937259
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)	rs1602349716
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)	rs864622215
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000240.4(MAOA):c.730G>A (p.Val244Ile)	rs1135401773
NM_000252.3(MTM1):c.100del (p.Ala34fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)	rs587783750
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter)	rs781939560
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter)	rs587783755
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)	rs2040150416
NM_000252.3(MTM1):c.114del (p.Pro39fs)
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1180G>C (p.Asp394His)	rs587783760
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter)	rs2040152185
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)	rs1569565525
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)	rs2040152678
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)	rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)	rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	rs587783766
NM_000252.3(MTM1):c.1260+5G>A	rs587783769
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1261-2A>C	rs2148510791
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)	rs587783774
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)	rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)	rs587783777
NM_000252.3(MTM1):c.1354-2A>T	rs781835307
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)	rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)	rs587783787
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)	rs2148456078
NM_000252.3(MTM1):c.342+4A>G	rs587783820
NM_000252.3(MTM1):c.343-1G>A	rs2148461695
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)	rs2039434309
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
NM_000252.3(MTM1):c.444+2T>A
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter)	rs2039802744
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)	rs2148488364
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	rs587783838
NM_000252.3(MTM1):c.592T>C (p.Tyr198His)	rs2039845128
NM_000252.3(MTM1):c.63+3A>T	rs587783844
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)	rs587783848
NM_000252.3(MTM1):c.679-1G>A	rs672601324
NM_000252.3(MTM1):c.679-2A>C
NM_000252.3(MTM1):c.679G>A (p.Val227Met)	rs587783850
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	rs398123274
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)	rs2039919583
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.743G>T (p.Gly248Val)	rs587783853
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter)	rs2039921355
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter)	rs2039922261
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)	rs587783862
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)	rs2038978870
NM_000266.4(NDP):c.200G>T (p.Gly67Val)	rs1460859456
NM_000266.4(NDP):c.224C>G (p.Ser75Cys)	rs104894868
NM_000273.3(GPR143):c.223dup (p.Ala75fs)	rs672601353
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)	rs62635030
NM_000273.3(GPR143):c.456-5_463del	rs2146691632
NM_000273.3(GPR143):c.767+1G>A	rs2146687459
NM_000273.3(GPR143):c.885+1G>A	rs281865184
NM_000283.4(PDE6B):c.241del (p.Arg81fs)
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	rs104894922
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)	rs397516335
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)	rs1060499806
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
NM_000307.5(POU3F4):c.968G>A (p.Arg323His)	rs727505246
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)	rs926775037
NM_000330.4(RS1):c.101dup (p.Tyr34Ter)
NM_000330.4(RS1):c.131dup (p.Gly45fs)	rs2147203103
NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	rs200866925
NM_000330.4(RS1):c.184+1G>A
NM_000330.4(RS1):c.184+2T>C
NM_000330.4(RS1):c.187T>C (p.Cys63Arg)	rs2147194234
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)	rs62645895
NM_000330.4(RS1):c.215A>G (p.Glu72Gly)	rs1927823799
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	rs61752060
NM_000330.4(RS1):c.327-14_410del	rs2147191292
NM_000330.4(RS1):c.409C>T (p.Leu137Phe)	rs1927700931
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)	rs61752157
NM_000330.4(RS1):c.422G>A (p.Arg141His)	rs61752159
NM_000330.4(RS1):c.455del (p.Ser152fs)
NM_000330.4(RS1):c.488G>A (p.Trp163Ter)	rs2147191142
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)	rs1057516744
NM_000330.4(RS1):c.52+3A>G	rs2147209764
NM_000330.4(RS1):c.522+1G>A	rs281865348
NM_000330.4(RS1):c.53-713_78+266del
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter)	rs2147189125
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000330.4(RS1):c.578C>A (p.Pro193His)	rs281865352
NM_000330.4(RS1):c.579dup (p.Ile194fs)	rs199469697
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)	rs281865357
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000330.4(RS1):c.60_64del (p.Leu20fs)
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)	rs281865361
NM_000330.4(RS1):c.649del (p.Leu217fs)	rs1927598075
NM_000330.4(RS1):c.673T>C (p.Ter225Arg)	rs1057517433
NM_000377.2(WAS):c.509_510del	rs2062418811
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
NM_000377.3(WAS):c.1052del (p.Pro351fs)	rs2147266405
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000377.3(WAS):c.1157del (p.Pro386fs)	rs886041379
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs)	rs2147266901
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)	rs2147262523
NM_000377.3(WAS):c.1339-2A>G	rs2147267240
NM_000377.3(WAS):c.142A>C (p.Thr48Pro)	rs2062412197
NM_000377.3(WAS):c.167C>T (p.Ala56Val)	rs132630269
NM_000377.3(WAS):c.226_228del (p.Lys76del)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu)	rs2147262951
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)	rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)	rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)	rs193922414
NM_000377.3(WAS):c.315dup (p.Val106fs)
NM_000377.3(WAS):c.373G>C (p.Gly125Arg)	rs2147263882
NM_000377.3(WAS):c.374G>A (p.Gly125Glu)	rs1557006534
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.397G>A (p.Glu133Lys)	rs2062417344
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)	rs1557006672
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)	rs2062410722
NM_000377.3(WAS):c.763dup (p.Gln255fs)	rs193922416
NM_000377.3(WAS):c.778-1G>A	rs2147265861
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000377.3(WAS):c.852del (p.Glu285fs)	rs1557007035
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)	rs2062426981
NM_000381.4(MID1):c.1142-1G>T	rs1929600096
NM_000381.4(MID1):c.1174_1178del (p.Cys392fs)
NM_000381.4(MID1):c.1310G>A (p.Trp437Ter)	rs2147266860
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg)	rs1556004400
NM_000381.4(MID1):c.1454del (p.Pro485fs)	rs1556003200
NM_000381.4(MID1):c.1655+1G>A	rs1928556991
NM_000381.4(MID1):c.1688dup (p.Lys564fs)
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter)	rs1556001968
NM_000381.4(MID1):c.1798del (p.His600fs)
NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter)	rs2147252384
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter)	rs1556001856
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro)	rs2147252300
NM_000381.4(MID1):c.388G>A (p.Ala130Thr)	rs1934582371
NM_000381.4(MID1):c.757-1G>A	rs1555895725
NM_000381.4(MID1):c.889C>T (p.Gln297Ter)	rs2147299486
NM_000381.4(MID1):c.922del (p.Arg308fs)	rs1555894390
NM_000390.4(CHM):c.116+1G>A	rs786204761
NM_000390.4(CHM):c.1168_1244+1del
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)
NM_000390.4(CHM):c.1402del (p.Ser468fs)
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)
NM_000390.4(CHM):c.1A>G (p.Met1Val)	rs1057516265
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	rs1603288832
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter)	rs897855683
NM_000390.4(CHM):c.315-1536A>G	rs1555955061
NM_000390.4(CHM):c.386del (p.Asn129fs)
NM_000390.4(CHM):c.453dup (p.Glu152Ter)
NM_000390.4(CHM):c.539del (p.Asn180fs)	rs1930424354
NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)
NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)
NM_000390.4(CHM):c.82_83del (p.Ser28fs)
NM_000390.4(CHM):c.83C>G (p.Ser28Ter)	rs2147791162
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)	rs1556026033
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)	rs1602303865
NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)
NM_000444.6(PHEX):c.1404+2T>G	rs193922454
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	rs375593493
NM_000444.6(PHEX):c.1474del (p.Leu492fs)
NM_000444.6(PHEX):c.1479dup (p.Ala494fs)	rs2147118833
NM_000444.6(PHEX):c.1482+1del
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro)	rs915608304
NM_000444.6(PHEX):c.1586+3_1586+6del	rs886042234
NM_000444.6(PHEX):c.1586+5G>A	rs1602363550
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)	rs193922455
NM_000444.6(PHEX):c.1677_1680del (p.Phe560fs)
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys)	rs1064795106
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val)	rs1556135308
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	rs875989883
NM_000444.6(PHEX):c.1739A>G (p.His580Arg)	rs1057521800
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr)	rs1602402258
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser)	rs1602244810
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro)	rs1602405293
NM_000444.6(PHEX):c.187+1G>C	rs1556012100
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter)	rs1400504292
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)	rs193922456
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup)	rs1602411514
NM_000444.6(PHEX):c.1966-1G>T	rs1064795147
NM_000444.6(PHEX):c.1966-9_1966-7del	rs1556151004
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)	rs193922457
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del)	rs1602412679
NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser)	rs1556200989
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)	rs1064796845
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)	rs1569442206
NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)
NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala)
NM_000444.6(PHEX):c.2193del (p.Phe731fs)	rs886041631
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe)	rs1057517981
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg)	rs1602442819
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp)	rs1602442871
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser)	rs137853269
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)	rs193922458
NM_000444.6(PHEX):c.349+1G>C	rs193922459
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)	rs1602273900
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter)	rs2147019297
NM_000444.6(PHEX):c.436+5G>T	rs1602273945
NM_000444.6(PHEX):c.591A>G (p.Gln197=)	rs1556020818
NM_000444.6(PHEX):c.645_652del (p.Asn216fs)	rs1929218157
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)	rs2147040261
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
NM_000444.6(PHEX):c.850-2A>G	rs1064793226
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)	rs193922460
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)	rs1926565039
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)	rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)	rs386134263
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del	rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)	rs1569268070
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)	rs1926485824
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs)	rs2147007005
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)	rs2147006592
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)	rs104894888
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro)	rs1060499835
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)	rs891068548
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
NM_000489.6(ATRX):c.485-1G>A	rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.4957-4A>G	rs1602979818
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)	rs1602979414
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)	rs2068193669
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)	rs2148260943
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	rs398123425
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr)	rs1602876401
NM_000489.6(ATRX):c.5449-7A>G	rs2067371776
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)	rs1057521987
NM_000489.6(ATRX):c.565C>T (p.His189Tyr)	rs2148656473
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)	rs122445103
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)	rs1057518708
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly)	rs122445096
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)	rs1057517948
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu)	rs1057517948
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	rs1057517707
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)	rs122445111
NM_000489.6(ATRX):c.667T>C (p.Cys223Arg)
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)	rs2147761759
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)	rs1569515457
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)	rs1057524153
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	rs122445105
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)	rs2073481839
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr)	rs2071439399
NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	rs104893796
NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	rs1578278438
NM_000539.3(RHO):c.362G>T (p.Gly121Val)	rs2084774644
NM_000539.3(RHO):c.647T>A (p.Met216Lys)	rs984572250
NM_000843.4(GRM6):c.2066del (p.Pro689fs)	rs755967391
NM_000843.4(GRM6):c.2236_2237del (p.Met746fs)
NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala)	rs2124491843
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)	rs782596945
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)	rs1567725425
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs)	rs886041774
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	rs786205208
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)	rs2080109236
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter)	rs2147439567
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs)	rs2147439499
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)	rs2080101583
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)	rs2147439364
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
NM_001008537.3(NEXMIF):c.67del (p.Val23fs)	rs2147442619
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)	rs2080116462
NM_001011658.4(TRAPPC2):c.324+1G>T	rs2046279070
NM_001015877.2(PHF6):c.139-2A>G
NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)
NM_001015877.2(PHF6):c.376delinsCC (p.Val126fs)
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)	rs1569334260
NM_001015877.2(PHF6):c.729+2T>C
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del)	rs1556019105
NM_001015877.2(PHF6):c.802G>C (p.Val268Leu)	rs2077467347
NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer)	rs2124252847
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)	rs2063344708
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)	rs1602330420
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)	rs2063444025
NM_001032382.2(PQBP1):c.721del (p.Gln241fs)
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)	rs2063451959
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
NM_001034853.2(RPGR):c.1587del (p.Ile529fs)
NM_001034853.2(RPGR):c.1753+2T>G
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
NM_001034853.2(RPGR):c.2536dup (p.Glu846fs)
NM_001034853.2(RPGR):c.283G>A (p.Gly95Arg)
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)	rs771214648
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)	rs1601972449
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)	rs2067562961
NM_001039590.2:c.3466_3879del
NM_001039591.3(USP9X):c.1315-4A>G	rs1057522024
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs)	rs2147118205
NM_001039591.3(USP9X):c.2877+2T>C	rs2147123290
NM_001039591.3(USP9X):c.323-1G>C	rs5918118
NM_001039591.3(USP9X):c.3559-1G>C	rs2147163808
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val)	rs2147171235
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter)	rs1555932766
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg)	rs2147230302
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile)	rs2147245804
NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His)	rs2147251154
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
NM_001042750.2(STAG2):c.3222dup (p.Ser1075fs)
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)	rs905353542
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)	rs1924000101
NM_001079872.2(CUL4B):c.1444-1G>A
NM_001079872.2(CUL4B):c.1741+4_1741+7del	rs1569389364
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)	rs1556200641
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)	rs1556173896
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser)	rs1603326578
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr)	rs2147667154
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)	rs2047665750
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)	rs1556024875
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His)	rs2147617004
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys)	rs2047177327
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg)	rs2148016775
NM_001081550.2(THOC2):c.3503+4A>C	rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr)	rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G	rs1556005930
NM_001110556.2(FLNA):c.1065+1G>T	rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A	rs2148118126
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)	rs782178831
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C	rs2067713488
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	rs28935473
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
NM_001110556.2(FLNA):c.4142+1G>A	rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T	rs1557177485
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe)	rs2148119483
NM_001110556.2(FLNA):c.4596_4598+5del	rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)	rs1603360542
NM_001110556.2(FLNA):c.4750_4755+18del	rs2067676994
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val)	rs2148107380
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C	rs1557176315
NM_001110556.2(FLNA):c.622+1G>A	rs2148119316
NM_001110556.2(FLNA):c.622+5G>C	rs2067774568
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs)	rs2148104376
NM_001110556.2(FLNA):c.6503-2A>C	rs112363874
NM_001110556.2(FLNA):c.7023+1G>T	rs2148102980
NM_001110556.2(FLNA):c.7333+1G>C	rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)	rs797044753
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del)	rs2067597172
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
NM_001110556.2(FLNA):c.868+1G>A
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)	rs61751450
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)	rs1557135353
NM_001110792.2(MECP2):c.1173del (p.Val392fs)	rs1557135793
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)	rs2065902096
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	rs267608399
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)	rs61751370
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001111125.3(IQSEC2):c.1401+2T>A
NM_001111125.3(IQSEC2):c.1402-124_1533del
NM_001111125.3(IQSEC2):c.1655_1667dup (p.Pro557fs)
NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)
NM_001111125.3(IQSEC2):c.2297+2T>C	rs2147096217
NM_001111125.3(IQSEC2):c.2460-2A>G	rs1602279457
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)	rs782099475
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser)	rs2074335877
NM_001111125.3(IQSEC2):c.2551C>T (p.Gln851Ter)
NM_001111125.3(IQSEC2):c.2582+1del	rs2074335019
NM_001111125.3(IQSEC2):c.2703del (p.Ala902fs)
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp)	rs1057521657
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)	rs886041767
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
NM_001111125.3(IQSEC2):c.3005A>G (p.Asp1002Gly)	rs2147049209
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	rs1602260263
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del)	rs2147015547
NM_001111125.3(IQSEC2):c.3451+1G>C
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly)	rs2074117985
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=)	rs2147010150
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter)	rs1569291699
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)	rs1569291627
NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs)	rs1064795512
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs)	rs2074096700
NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs)	rs2147000837
NM_001111125.3(IQSEC2):c.586_707+728del	rs2146544783
NM_001111125.3(IQSEC2):c.738-1G>A
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs)	rs2147127449
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)	rs2074458024
NM_001127898.4(CLCN5):c.1014+1G>A	rs2147594243
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)	rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)	rs1557194353
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)	rs1933713383
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)	rs151340626
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
NM_001145073.3(USP27X):c.394G>T (p.Glu132Ter)
NM_001145073.3(USP27X):c.937T>G (p.Phe313Val)
NM_001145073.3(USP27X):c.954del (p.Lys318fs)
NM_001159699.2(FHL1):c.205-1G>A	rs2073859427
NM_001159699.2(FHL1):c.377_379+24del	rs2148373814
NM_001159699.2(FHL1):c.380-2A>G	rs2148375467
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)	rs1603271659
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)	rs145445372
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)	rs122458145
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)	rs2073964376
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)	rs1556639771
NM_001167.4(XIAP):c.-32-5232_878-647del
NM_001167.4(XIAP):c.1099+2T>C	rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter)	rs2148112156
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)	rs1602544454
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr)	rs796052839
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)	rs796052811
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)	rs796052811
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)	rs1602636688
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)	rs796052812
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)	rs1928407580
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)	rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr)	rs1569314809
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly)	rs1928395285
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)	rs1602636096
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)	rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)	rs1555985142
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs)	rs2147538465
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)	rs1928375454
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)	rs267606933
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)	rs748611349
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)	rs1602635656
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro)	rs2147537859
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr)	rs1928365978
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)	rs2147537831
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)	rs1057521256
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)	rs1928358562
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)	rs1928358562
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)	rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)	rs1602635261
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)	rs1928356260
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)	rs1602638228
NM_001184880.2(PCDH19):c.2616+1G>A	rs1602632270
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His)	rs1555985780
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly)	rs2147542320
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter)	rs2147485081
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs)	rs2147542293
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs)	rs1924620442
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)	rs2147445956
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala)	rs2147542056
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu)	rs1555985687
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg)	rs796052799
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala)	rs1928459143
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)	rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)	rs1569315876
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)	rs2147541733
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly)	rs2147541358
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)	rs1928446616
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter)	rs1602637608
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)	rs587784299
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)	rs1928438552
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)	rs1060502176
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)	rs1602637340
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp)	rs2147540748
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)	rs1928431321
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)	rs587784300
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)	rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)	rs1057524751
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter)	rs766962106
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer)	rs1928480582
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)	rs1459520904
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val)	rs1602636925
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser)	rs2147540049
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)	rs1596017653
NM_001252024.2(TRPM1):c.1623+1G>A	rs2033825467
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter)	rs372529012
NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)	rs754705612
NM_001252024.2(TRPM1):c.3496+2T>C	rs773030662
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)	rs778390089
NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs)	rs2141098146
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro)	rs869312176
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	rs2065788651
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	rs2065880189
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)	rs1249437161
NM_001256789.3(CACNA1F):c.3037-2A>G	rs1057516199
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	rs2065717075
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)
NM_001256789.3(CACNA1F):c.3591_3595dup (p.Gln1199fs)
NM_001256789.3(CACNA1F):c.3708+2T>C
NM_001256789.3(CACNA1F):c.4186_4187insCCCTA (p.Gly1396fs)
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs)	rs2147897090
NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)	rs1335615080
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)
NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs)
NM_001256789.3(CACNA1F):c.818-820del	rs2065854138
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)	rs1569507511
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)	rs1772040461
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)	rs1057518042
NM_001272071.2(AP1S2):c.-1+1G>A	rs1934288587
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)	rs1933972061
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)	rs2064782292
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)	rs886041102
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)	rs2148495027
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)	rs1603277433
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)	rs1603276146
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)	rs782163019
NM_001318510.2(ACSL4):c.1072_1073del (p.Leu358fs)
NM_001318510.2(ACSL4):c.1653_1654insT (p.Lys552Ter)	rs2147391497
NM_001318510.2(ACSL4):c.257del (p.Asn86fs)
NM_001318510.2(ACSL4):c.473C>A (p.Ser158Tyr)	rs1924147806
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)
NM_001320752.2(STS):c.437del (p.Pro146fs)	rs2147089236
NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs)	rs1555974716
NM_001330574.2(ZNF711):c.2217del (p.Lys739fs)
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs)	rs1555970404
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)	rs1556323334
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.30+1G>A
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)	rs1556401714
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)	rs2052539418
NM_001353921.2(ARHGEF9):c.402+1G>A	rs2052538764
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)	rs1556389083
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
NM_001356.5(DDX3X):c.103+6T>G	rs2147340616
NM_001356.5(DDX3X):c.1045G>A (p.Ala349Thr)
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)	rs1057518707
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	rs796052231
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)	rs1555951993
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
NM_001356.5(DDX3X):c.1171-2A>C	rs2147356545
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro)	rs796052232
NM_001356.5(DDX3X):c.1177G>C (p.Ala393Pro)
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)	rs1602134468
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)	rs1064793796
NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)
NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu)	rs2147356661
NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)
NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro)	rs2063911698
NM_001356.5(DDX3X):c.1315+1G>A	rs2063911832
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)	rs2063923221
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)	rs1064794574
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly)	rs1064796827
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro)	rs2063923789
NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)	rs796052235
NM_001356.5(DDX3X):c.1466C>G (p.Ser489Ter)
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)	rs1555954154
NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)	rs796052236
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)	rs2063927856
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)	rs796052226
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs)	rs1602136369
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)	rs766409654
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)	rs1064795323
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)	rs1064795387
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	rs1555954284
NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu)	rs2147359928
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)	rs1555954380
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)	rs1602126980
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter)	rs61755357
NM_001356.5(DDX3X):c.544-8_544-6del	rs2063875026
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)	rs2063875155
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)	rs875989803
NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.765+2T>G	rs2147352999
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser)	rs1267519974
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)	rs1602131859
NM_001356.5(DDX3X):c.833dup (p.Leu278fs)	rs1602131872
NM_001356.5(DDX3X):c.864+2T>G
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488
NM_001356.5(DDX3X):c.887G>A (p.Arg296His)
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)	rs1602132216
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser)	rs875989802
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)	rs1555953527
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)	rs1114167422
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)	rs2071871731
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	rs1557265435
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	rs2071733846
NM_001363.5(DKC1):c.204C>G (p.His68Gln)	rs199422245
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)	rs1114167352
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
NM_001367721.1(CASK):c.1582+1G>A	rs2147179060
NM_001367721.1(CASK):c.1583-1G>T
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)	rs1555981717
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_001367721.1(CASK):c.173-1G>A
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	rs779508996
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)	rs1569302194
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)	rs587783361
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)	rs137852818
NM_001367721.1(CASK):c.2155+1G>C	rs1555977199
NM_001367721.1(CASK):c.2155G>A (p.Val719Met)	rs12842195
NM_001367721.1(CASK):c.2156-1G>A	rs1569291261
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)	rs398122844
NM_001367721.1(CASK):c.2317+5G>A	rs2147095645
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)	rs1569288603
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)	rs1569283243
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
NM_001367721.1(CASK):c.356+1G>T	rs2147736023
NM_001367721.1(CASK):c.359A>G (p.His120Arg)	rs1602550687
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)	rs2147495562
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)	rs587783367
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)	rs2067016221
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)	rs1602424843
NM_001367721.1(CASK):c.915+1G>A	rs2147368049
NM_001368397.1(FRMPD4):c.1071-1G>A
NM_001368397.1(FRMPD4):c.1151C>A (p.Ser384Ter)	rs2147144421
NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs)	rs2041898606
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg)	rs886038209
NM_001368397.1(FRMPD4):c.3024dup (p.Asp1009Ter)
NM_001368397.1(FRMPD4):c.3258del (p.Arg1087fs)
NM_001368397.1(FRMPD4):c.561del (p.Asn187fs)
NM_001378477.3(NYX):c.1293dup (p.Leu432fs)	rs2147026677
NM_001378477.3(NYX):c.23-1_23delinsTT	rs1555967031
NM_001378477.3(NYX):c.419_420delinsAA (p.Cys140Ter)
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup)	rs2064376509
NM_001378477.3(NYX):c.944_971dup (p.Phe327fs)
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser)	rs132630317
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys)	rs2147519167
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)	rs876657639
NM_001399.5(EDA):c.1093G>A (p.Val365Met)	rs2147519270
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)	rs2020255486
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)	rs1602625000
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr)	rs749830948
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser)	rs2020256386
NM_001399.5(EDA):c.1174T>C (p.Ter392Gln)	rs2147519482
NM_001399.5(EDA):c.130del (p.Leu44fs)
NM_001399.5(EDA):c.161A>T (p.His54Leu)	rs1569272194
NM_001399.5(EDA):c.163C>G (p.Leu55Val)	rs1602221926
NM_001399.5(EDA):c.164T>A (p.Leu55Gln)	rs397516657
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
NM_001399.5(EDA):c.178T>C (p.Cys60Arg)
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)	rs132630308
NM_001399.5(EDA):c.181T>C (p.Tyr61His)	rs132630308
NM_001399.5(EDA):c.191del (p.Leu64fs)
NM_001399.5(EDA):c.254dup (p.Thr86fs)
NM_001399.5(EDA):c.397-2A>T
NM_001399.5(EDA):c.434_438del (p.Pro145fs)
NM_001399.5(EDA):c.473A>G (p.Lys158Arg)	rs982209417
NM_001399.5(EDA):c.476G>C (p.Arg159Thr)	rs1556039084
NM_001399.5(EDA):c.477A>T (p.Arg159Ser)	rs876657640
NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)
NM_001399.5(EDA):c.503-2del	rs1602614385
NM_001399.5(EDA):c.526+1del	rs1602614410
NM_001399.5(EDA):c.526+5G>A	rs397516664
NM_001399.5(EDA):c.526+5G>T	rs397516664
NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs)
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
NM_001399.5(EDA):c.607C>T (p.Pro203Ser)	rs397516671
NM_001399.5(EDA):c.608C>T (p.Pro203Leu)	rs2020138975
NM_001399.5(EDA):c.610G>A (p.Gly204Arg)	rs2020139065
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])	rs1064793104
NM_001399.5(EDA):c.617C>T (p.Pro206Leu)	rs1057520742
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)	rs2020139491
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)	rs132630315
NM_001399.5(EDA):c.641T>A (p.Met214Lys)	rs1569404950
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
NM_001399.5(EDA):c.706+1G>A	rs886039344
NM_001399.5(EDA):c.706G>A (p.Gly236Ser)
NM_001399.5(EDA):c.764G>A (p.Gly255Asp)	rs1064793105
NM_001399.5(EDA):c.794-1G>A	rs2147516240
NM_001399.5(EDA):c.798T>C (p.Leu266=)	rs2147516257
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
NM_001399.5(EDA):c.822G>T (p.Trp274Cys)	rs397516675
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
NM_001399.5(EDA):c.872G>T (p.Gly291Val)
NM_001399.5(EDA):c.881A>T (p.Glu294Val)	rs397516678
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)	rs397516679
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys)	rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser)	rs876657642
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
NM_001399.5(EDA):c.935T>C (p.Ile312Thr)	rs1791938725
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp)	rs1416551006
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)	rs1602624745
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile)	rs751468976
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)	rs1602041478
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val)	rs2147128410
NM_001493.3(GDI1):c.45+1G>A	rs2148226455
NM_001493.3(GDI1):c.671A>G (p.Tyr224Cys)
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)	rs2148228335
NM_001493.3(GDI1):c.706del (p.Gln236fs)
NM_001493.3(GDI1):c.788del (p.Gly263fs)	rs2068750338
NM_001555.5(IGSF1):c.1614G>A (p.Trp538Ter)
NM_001555.5(IGSF1):c.2042-1_2042del
NM_001555.5(IGSF1):c.2407dup (p.His803fs)	rs1603404297
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)	rs1924450715
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser)	rs1602159841
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)	rs1555976973
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)	rs1924631837
NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs)
NM_001830.4(CLCN4):c.373del (p.Asp125fs)	rs1924061524
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)
NM_001830.4(CLCN4):c.740dup (p.Asn248fs)	rs2147178526
NM_001830.4(CLCN4):c.832del (p.Ser278fs)	rs1924399093
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)	rs1374813094
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)	rs1064796023
NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)
NM_002025.4(AFF2):c.2885G>A (p.Cys962Tyr)	rs1212059076
NM_002025.4(AFF2):c.3481C>T (p.Arg1161Ter)	rs2124413117
NM_002063.4(GLRA2):c.777C>G (p.Ile259Met)	rs2147096455
NM_002139.4(RBMX):c.388G>T (p.Asp130Tyr)
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)	rs1057519753
NM_002351.5(SH2D1A):c.138-3C>G	rs1556620697
NM_002351.5(SH2D1A):c.197_201+9del	rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C	rs2147531379
NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg)	rs111033625
NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly)	rs1556619319
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
NM_002547.3(OPHN1):c.1105-13_1109del	rs2077502210
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)	rs2078892867
NM_002547.3(OPHN1):c.1202-1G>A	rs2147456067
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)	rs1602169116
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_002547.3(OPHN1):c.1526+1G>A	rs2147429591
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)	rs2147404496
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)	rs869312676
NM_002547.3(OPHN1):c.597+1del
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.702+4A>G	rs2147481894
NM_002547.3(OPHN1):c.702+4A>T	rs2147481894
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter)	rs2149325212
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr)	rs1603377813
NM_002578.5(PAK3):c.1182del (p.Leu395fs)
NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg)	rs1603378331
NM_002578.5(PAK3):c.176-1G>A
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter)	rs780775497
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)	rs2093969640
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val)	rs2147682409
NM_002764.4(PRPS1):c.575T>A (p.Ile192Asn)
NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser)
NM_003179.3(SYP):c.615+2T>C
NM_003336.4(UBE2A):c.242-3_244del	rs2053456972
NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)	rs2053457413
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)	rs1603308066
NM_003336.4(UBE2A):c.330+1G>A	rs2053457643
NM_003336.4(UBE2A):c.330+1del
NM_003336.4(UBE2A):c.373del (p.Gln125fs)	rs1556244406
NM_003336.4(UBE2A):c.421_422del (p.Val141fs)	rs2147382084
NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)
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.115C>A (p.Pro39Thr)	rs1603290816
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)	rs1557107942
NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)
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.259G>T (p.Ala87Ser)	rs1557107543
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)	rs2065169655
NM_003491.4(NAA10):c.361C>G (p.Leu121Val)	rs1557107462
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg)	rs1603290291
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)	rs2147321510
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs)	rs2146915836
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys)	rs2146914735
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu)	rs587780372
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe)	rs1602183890
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val)	rs2073151214
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe)	rs2146868023
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)	rs2146867887
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)	rs1602183619
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter)	rs2146961698
NM_004187.5(KDM5C):c.2243+1G>T	rs2073058023
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)	rs2146851322
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter)	rs1602231587
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs)	rs1934728804
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter)	rs1934722562
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_004187.5(KDM5C):c.4118-2A>G	rs2146815883
NM_004187.5(KDM5C):c.589dup (p.Leu197fs)	rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.807del (p.Thr270fs)	rs1569278313
NM_004208.4(AIFM1):c.-123G>C	rs724160014
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)	rs724160026
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.1319C>T (p.Ala440Val)	rs724160025
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)	rs724160022
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)	rs724160024
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)	rs724160015
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)	rs724160016
NM_004208.4(AIFM1):c.776C>G (p.Ala259Gly)	rs2124656989
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)	rs724160018
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)	rs1557189455
NM_004463.3(FGD1):c.1328G>A (p.Arg443His)	rs137853266
NM_004463.3(FGD1):c.1336G>T (p.Glu446Ter)	rs2147434002
NM_004463.3(FGD1):c.1556G>A (p.Arg519His)	rs398124157
NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs)
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala)	rs1922347865
NM_004463.3(FGD1):c.2268C>A (p.Cys756Ter)
NM_004463.3(FGD1):c.2501dup (p.Gly835fs)
NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter)
NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter)
NM_004463.3(FGD1):c.277dup (p.Tyr93fs)	rs1557191567
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004463.3(FGD1):c.892dup (p.Cys298fs)	rs1557189608
NM_004586.3(RPS6KA3):c.1022del (p.His341fs)	rs2148664069
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)	rs1160828151
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)	rs2148653302
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)	rs2067475470
NM_004586.3(RPS6KA3):c.1602+2del	rs2148649846
NM_004586.3(RPS6KA3):c.1603-5A>G	rs1569194162
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)	rs1555927532
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg)	rs2067342745
NM_004586.3(RPS6KA3):c.1960-6_1971del
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)	rs1555924704
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)	rs2068650679
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)	rs1555924331
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)	rs2148721833
NM_004586.3(RPS6KA3):c.326-11A>G	rs1555943503
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)	rs122454127
NM_004586.3(RPS6KA3):c.406+1G>T
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)	rs2148701829
NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His)	rs2148701796
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)	rs1325953089
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)	rs1555939456
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter)	rs1555939456
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)	rs1603425338
NM_004586.3(RPS6KA3):c.774+1G>C	rs1555939331
NM_004586.3(RPS6KA3):c.840_845+3del
NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter)	rs2067702700
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys)	rs2147508108
NM_004595.5(SMS):c.328C>G (p.Arg110Gly)	rs1924243873
NM_004595.5(SMS):c.410A>G (p.Asp137Gly)	rs1924586809
NM_004595.5(SMS):c.587T>C (p.Ile196Thr)	rs1924648986
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004595.5(SMS):c.865+2T>C	rs2146953457
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly)	rs1602481623
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)	rs864321630
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp)	rs1602489684
NM_004606.5(TAF1):c.1A>T (p.Met1Leu)	rs2148106783
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)	rs1602490113
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)	rs864321628
NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)
NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp)	rs2034364118
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)	rs1602506017
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)	rs1057518019
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)	rs1602520317
NM_004606.5(TAF1):c.3407-1G>A
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)	rs1569301036
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)	rs2034990430
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)	rs1602538353
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile)	rs1131691982
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu)	rs1555980523
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)	rs2148488146
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile)	rs1602572645
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg)	rs1064793874
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)	rs1602624950
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys)	rs2148612232
NM_005120.3(MED12):c.100-2A>T
NM_005120.3(MED12):c.1248+3A>G	rs2147782173
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)	rs1569481124
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)	rs1057519381
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)	rs867655376
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	rs1057523906
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)	rs1602299778
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	rs2147805923
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)	rs863223706
NM_005120.3(MED12):c.4048-1G>A	rs2092317530
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)	rs727503868
NM_005120.3(MED12):c.4863+1G>A
NM_005120.3(MED12):c.5025+1G>C
NM_005120.3(MED12):c.5400+2T>C	rs2147827179
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)	rs2092334822
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)	rs2092347481
NM_005120.3(MED12):c.6408+1G>A	rs2092347488
NM_005120.3(MED12):c.6439C>A (p.Gln2147Lys)	rs863223699
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	rs1556334519
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr)	rs1556518231
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)	rs2146543631
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)	rs1019534975
NM_006195.6(PBX3):c.273del (p.Gly92fs)
NM_006195.6(PBX3):c.945dup (p.Ala316fs)
NM_006195.6(PBX3):c.946_947insTA (p.Ala316fs)
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	rs587784384
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer)	rs2147871837
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)	rs2147871878
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)	rs2147871919
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)	rs1363308293
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs)	rs2147350836
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)	rs1602099961
NM_006517.5(SLC16A2):c.431-2A>G	rs2147869490
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter)	rs1930396705
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)	rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)	rs387906501
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)	rs727504155
NM_006517.5(SLC16A2):c.607del (p.Ile203fs)	rs2147870528
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)	rs2147870607
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)	rs587784383
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)	rs2147833877
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006521.6(TFE3):c.569A>G (p.His190Arg)	rs2147776445
NM_006579.3(EBP):c.184C>T (p.Arg62Trp)	rs372974717
NM_006579.3(EBP):c.201_203dup (p.Cys67dup)	rs797045542
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)	rs587783601
NM_006579.3(EBP):c.214T>C (p.Cys72Arg)	rs587783602
NM_006579.3(EBP):c.218G>A (p.Gly73Glu)	rs587783603
NM_006579.3(EBP):c.278A>T (p.Asp93Val)
NM_006579.3(EBP):c.299T>C (p.Leu100Pro)	rs587783605
NM_006579.3(EBP):c.303G>T (p.Trp101Cys)	rs587783607
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)	rs587783610
NM_006579.3(EBP):c.314C>A (p.Ala105Asp)	rs587783611
NM_006579.3(EBP):c.320G>A (p.Gly107Glu)	rs587783612
NM_006579.3(EBP):c.331T>C (p.Tyr111His)	rs587783614
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)	rs797045545
NM_006579.3(EBP):c.481G>A (p.Gly161Arg)	rs587783617
NM_006579.3(EBP):c.527A>G (p.His176Arg)	rs587783618
NM_006579.3(EBP):c.632T>G (p.Leu211Arg)	rs587783619
NM_006950.3(SYN1):c.1158+1G>T
NM_006950.3(SYN1):c.1159-2A>G
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)	rs1556857481
NM_006950.3(SYN1):c.1471del (p.Gln491fs)	rs2147912333
NM_006950.3(SYN1):c.2028C>T (p.Ala676=)	rs2057764630
NM_006950.3(SYN1):c.314del (p.Gly105fs)	rs1603078587
NM_006950.3(SYN1):c.378-1G>A	rs2057900552
NM_006950.3(SYN1):c.528-2A>T	rs1556860663
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln)	rs2057892972
NM_006950.3(SYN1):c.838-2A>G	rs2147913419
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
NM_006950.3(SYN1):c.986C>T (p.Thr329Met)	rs2057777813
NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)	rs2147383715
NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)	rs1057521721
NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)	rs2045826576
NM_007325.5(GRIA3):c.307G>T (p.Gly103Ter)
NM_007363.5(NONO):c.1191_1192del (p.Asn397fs)	rs2031508845
NM_007363.5(NONO):c.1242del (p.Gly415fs)	rs2148040741
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.315_318del (p.His106fs)	rs2148033533
NM_007363.5(NONO):c.322_348+280del	rs2148033540
NM_007363.5(NONO):c.332_348+280del
NM_007363.5(NONO):c.651-1G>C	rs2031456898
NM_012216.4(MID2):c.2070del (p.Phe691fs)	rs1933190705
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)	rs1569234334
NM_014271.4(IL1RAPL1):c.1075del (p.Glu359fs)	rs2147251555
NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs)	rs2147258610
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)	rs122461161
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter)	rs781674023
NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs)	rs2147259265
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
NM_014332.3(SMPX):c.132+1G>A	rs2147390444
NM_014332.3(SMPX):c.133-1G>A	rs1060499590
NM_014332.3(SMPX):c.217del (p.Ile73fs)
NM_014332.3(SMPX):c.29del (p.Asn10fs)	rs2092830420
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)	rs1555255676
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter)	rs2147191275
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter)	rs2092414327
NM_014927.5(CNKSR2):c.1657+1G>A
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)
NM_015107.3(PHF8):c.1995+1G>A
NM_015107.3(PHF8):c.2444-2A>G	rs1603305030
NM_015107.3(PHF8):c.2455del (p.Leu819fs)	rs2065126287
NM_015107.3(PHF8):c.2656C>T (p.Gln886Ter)
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)	rs150146590
NM_016032.4(ZDHHC9):c.167+1G>A
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)	rs137852214
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn)	rs2124105757
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter)	rs1927638009
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)	rs786205133
NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys)	rs2079618652
NM_016120.4(RLIM):c.1729T>C (p.Tyr577His)	rs1569309484
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)	rs1569309460
NM_016120.4(RLIM):c.992G>A (p.Gly331Glu)	rs2147372360
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)
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.629A>G (p.Tyr210Cys)	rs1555988422
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr)	rs1928842837
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)	rs188675529
NM_020717.5(SHROOM4):c.4212+1G>A	rs2147209054
NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)
NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter)	rs2147842078
NM_021120.4(DLG3):c.159del (p.Tyr54fs)	rs1602857000
NM_021120.4(DLG3):c.1819+1del
NM_022101.4(STEEP1):c.163del (p.Arg55fs)	rs2147360775
NM_022101.4(STEEP1):c.79del (p.Leu27fs)
NM_024528.4(NKAP):c.989G>A (p.Arg330His)	rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)	rs1603379779
NM_031206.7(LAS1L):c.1237G>A (p.Gly413Arg)	rs1602612611
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)	rs1057518699
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	rs1556914274
NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe)	rs1556913268
NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys)	rs1556913258
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)	rs1556913180
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro)	rs2146878120
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)	rs1556912828
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser)	rs121918527
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe)
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp)	rs1556910184
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)	rs1325394060
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)	rs1557006903
NM_031407.7(HUWE1):c.2007T>G (p.His669Gln)	rs1557006873
NM_031407.7(HUWE1):c.2320-19A>G
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)	rs1057518704
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)	rs1557036757
NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val)	rs1556978515
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val)	rs863224879
NM_031407.7(HUWE1):c.6098-20_6109del	rs1602738933
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met)	rs1556955128
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)	rs121918526
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	rs886041876
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser)	rs782393002
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser)	rs2147247961
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)	rs104886093
NM_033380.3(COL4A5):c.1033-10G>A
NM_033380.3(COL4A5):c.1033-6A>G	rs869025330
NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter)	rs1569492122
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser)	rs2147788213
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	rs2066342176
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg)	rs1603286154
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter)	rs2066424636
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu)	rs104886107
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)	rs2066425550
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala)	rs104886101
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg)	rs2066425897
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)	rs104886102
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg)	rs2147797143
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs)	rs2147797210
NM_033380.3(COL4A5):c.1339+1G>A	rs878853114
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter)	rs2066435557
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg)	rs1556410516
NM_033380.3(COL4A5):c.1395del (p.Gly466fs)
NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter)
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg)	rs1569493662
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp)	rs104886118
NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val)	rs1569493670
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	rs754223700
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)	rs2147809070
NM_033380.3(COL4A5):c.1588-10C>G	rs1603290097
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)
NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp)
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)	rs281874673
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg)	rs281874674
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)	rs281874674
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg)	rs1603290169
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)	rs2147810410
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu)	rs104886130
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del)	rs1603290199
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg)	rs1569494061
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val)	rs1569494281
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala)	rs104886140
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter)	rs2065868148
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val)	rs104886143
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys)	rs2147813821
NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp)	rs2066625376
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)	rs104886153
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys)	rs281874684
NM_033380.3(COL4A5):c.2042-2A>G	rs2066636714
NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu)
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)	rs1369565068
NM_033380.3(COL4A5):c.216del (p.Pro73fs)
NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs)
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu)	rs1603292422
NM_033380.3(COL4A5):c.219_226del (p.Arg74fs)
NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs)
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu)	rs867625069
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)	rs281874689
NM_033380.3(COL4A5):c.228A>T (p.Gln76His)	rs2147722497
NM_033380.3(COL4A5):c.231+1G>T
NM_033380.3(COL4A5):c.2322del (p.Gly775fs)
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro)	rs200371339
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg)	rs104886174
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu)	rs1603293624
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala)	rs1603293624
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter)	rs1298839151
NM_033380.3(COL4A5):c.2395+3A>G	rs2147832635
NM_033380.3(COL4A5):c.2396-1G>A	rs886041509
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg)
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter)	rs2066899099
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg)	rs2147849915
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)	rs1291655627
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])	rs104886356
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)	rs281874692
NM_033380.3(COL4A5):c.2474del (p.Gly825fs)
NM_033380.3(COL4A5):c.2510-1_2514del	rs2147859764
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu)	rs1569497690
NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp)	rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser)	rs1603297305
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu)	rs104886188
NM_033380.3(COL4A5):c.2604del (p.Gly869fs)	rs1556419850
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala)	rs1556419869
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val)	rs1556419895
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter)	rs2067017511
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg)	rs2067018186
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser)	rs1569497776
NM_033380.3(COL4A5):c.2678-1G>T
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter)
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)	rs1556420349
NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs)
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser)	rs1556420358
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg)	rs140753501
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg)	rs281874703
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)	rs878853089
NM_033380.3(COL4A5):c.2723G>C (p.Gly908Ala)
NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs)
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)	rs104886363
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter)	rs2067060145
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg)	rs2147865597
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs)	rs104886368
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)	rs2066011284
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter)	rs2067108651
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu)	rs1603298378
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter)	rs2067109223
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter)	rs2067109423
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg)	rs2066011417
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu)	rs1569498623
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)	rs104886374
NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg)
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter)	rs756070988
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3016+2T>C	rs2147869403
NM_033380.3(COL4A5):c.3017-2A>G
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter)	rs2067140465
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys)	rs1603298869
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp)	rs1569498896
NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val)
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	rs104886210
NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val)
NM_033380.3(COL4A5):c.3106+1G>A	rs2147872358
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser)	rs104886214
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter)	rs2067151807
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu)	rs1603298993
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val)	rs1603298993
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)	rs104886221
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter)	rs2067154422
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter)	rs2067818573
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)	rs1603306716
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs)	rs1569504068
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp)	rs104886224
NM_033380.3(COL4A5):c.3329G>T (p.Gly1110Val)
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg)	rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)	rs281874713
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg)	rs2067822565
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)
NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)	rs1569505374
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.3437G>A (p.Gly1146Glu)	rs2068061224
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg)	rs2147953060
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu)	rs2068082287
NM_033380.3(COL4A5):c.3488del (p.Pro1163fs)
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser)	rs104886236
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg)	rs104886237
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)	rs1060499710
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter)	rs104886240
NM_033380.3(COL4A5):c.3554-2A>G	rs2147956337
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val)	rs2068097992
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs)	rs2147956419
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs)	rs1569505604
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter)	rs2068126785
NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg)
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu)	rs2068126851
NM_033380.3(COL4A5):c.3634dup (p.Ile1212fs)	rs2147959089
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)	rs104886251
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg)	rs1569488426
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)	rs2068130178
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser)	rs2147959471
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)
NM_033380.3(COL4A5):c.3784del (p.Arg1262fs)
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val)	rs2147963152
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp)	rs2147974770
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser)	rs2147974808
NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter)	rs2147974914
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys)	rs1327176357
NM_033380.3(COL4A5):c.3940del (p.Gln1314fs)	rs2147975180
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=)	rs281874724
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs)
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs)	rs1131692246
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter)	rs2068413590
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
NM_033380.3(COL4A5):c.4061_4062delinsAT (p.Gly1354Asp)
NM_033380.3(COL4A5):c.4087+1G>C
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)	rs1569507535
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys)	rs767619131
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser)	rs1556403112
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs)	rs2068537554
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter)	rs2147753940
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)	rs2068539626
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)	rs143778018
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
NM_033380.3(COL4A5):c.4315+2T>A	rs2147989449
NM_033380.3(COL4A5):c.4316-20T>A	rs2068567564
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)	rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp)	rs2147991184
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser)	rs104886279
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs)	rs1569508360
NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter)	rs2066069145
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr)	rs1569508382
NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter)
NM_033380.3(COL4A5):c.446del (p.Pro149fs)	rs104886054
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val)	rs104886282
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
NM_033380.3(COL4A5):c.4529-345A>G	rs1569508899
NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp)
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs)	rs1603326561
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)	rs104886293
NM_033380.3(COL4A5):c.466-12G>A	rs104886414
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	rs281874743
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)	rs104886287
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu)	rs281874747
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)	rs2147759208
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter)	rs2148001666
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)	rs104886424
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)	rs104886298
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe)	rs1569509257
NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs)
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter)	rs2066099798
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)	rs2068718016
NM_033380.3(COL4A5):c.4995-1G>T	rs2148003624
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr)	rs2148003771
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)	rs1556404027
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys)
NM_033380.3(COL4A5):c.515del (p.Asn172fs)
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg)	rs281874755
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu)	rs2147759475
NM_033380.3(COL4A5):c.547-1G>A	rs104886431
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser)	rs1556404985
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp)	rs104886059
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)	rs104886060
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)	rs104886061
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser)	rs1569490379
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)	rs1569490379
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg)	rs267606310
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu)	rs104886066
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val)	rs104886066
NM_033380.3(COL4A5):c.645+1G>T	rs1603282474
NM_033380.3(COL4A5):c.645+3_645+36del
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg)	rs2147770608
NM_033380.3(COL4A5):c.671G>T (p.Gly224Val)	rs2147770618
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)	rs1569490592
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val)	rs1569490592
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp)	rs1556406001
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
NM_033380.3(COL4A5):c.711_716del (p.Gly239_Pro240del)
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter)	rs2066188778
NM_033380.3(COL4A5):c.770_776del (p.Lys257fs)
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg)	rs1603283567
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)	rs2147776175
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
NM_033380.3(COL4A5):c.834+1G>T
NM_033380.3(COL4A5):c.834del (p.Gly279fs)	rs2066227699
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser)	rs2066231013
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)	rs104886450
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu)	rs104886078
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	rs104886079
NM_033380.3(COL4A5):c.891+1G>T	rs104886451
NM_033380.3(COL4A5):c.891_891+1del
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)	rs2147777425
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp)	rs2147657533
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu)	rs1556407064
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val)	rs1556407064
NM_033380.3(COL4A5):c.935del (p.Pro312fs)	rs1556407078
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys)	rs104886084
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val)	rs2147781020
NM_033380.3(COL4A5):c.938del
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)	rs104886086
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp)	rs2066274585
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)	rs2056119926
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)
NM_080632.3(UPF3B):c.240del (p.Phe80fs)
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)	rs376175156
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)	rs2147322042
NM_139058.3(ARX):c.1121T>A (p.Val374Asp)	rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)	rs587783184
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)	rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)	rs1556049714
NM_139058.3(ARX):c.1187dup (p.Gly397fs)	rs1328291159
NM_139058.3(ARX):c.1206del (p.Pro403fs)	rs2147320576
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)	rs1569394026
NM_139058.3(ARX):c.1552del (p.Ala518fs)
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)	rs2147318633
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)	rs1569395541
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)	rs1556056131
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)	rs398122854
NM_139058.3(ARX):c.821dup (p.Ala275fs)
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	rs2147323593
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)	rs779788706
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile)	rs773516968
NM_153252.5(BRWD3):c.144G>A (p.Trp48Ter)
NM_153252.5(BRWD3):c.1522-1G>C	rs2147755986
NM_153252.5(BRWD3):c.2095C>T (p.Arg699Ter)
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys)	rs1569290395
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter)	rs750080794
NM_153252.5(BRWD3):c.3899dup (p.Cys1300fs)
NM_153252.5(BRWD3):c.4006-1G>A
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
NM_153252.5(BRWD3):c.94dup (p.Leu32fs)
NM_173495.3(PTCHD1):c.1985_1986del (p.Leu661_Tyr662insTer)	rs1922892999
NM_181672.3(OGT):c.1529G>A (p.Ser510Asn)
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile)	rs1602155923
NM_181672.3(OGT):c.307G>A (p.Gly103Arg)	rs1556046834
NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys)	rs879255361
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)	rs2061711638
NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)	rs2147139830
NM_203475.3(PORCN):c.1284+1G>A
NM_203475.3(PORCN):c.1356del (p.Cys453fs)	rs1602085557
NM_203475.3(PORCN):c.329+1G>A	rs1602070594
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)	rs1057519006
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)	rs2147130188
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)	rs2061701575
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.