ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5184
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HGVS dbSNP
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
AFF2, 121- to 145-KB DEL
AJ298105.1:g.61273_107768delins6086
ARX, 32-BP DEL, NT420
ARX, EX1-2DEL
ATP7A, EX3-4 DEL
ATRX, IVSAS, T-A, -10
BCOR, 1-BP DEL, 3286G
BCOR, 1-BP DEL, 3881A
BCOR, 2-BP DEL, 2488AG
BCOR, 60-KB DEL
BCOR, EX9-15DEL
CDKL5, 1-BP DEL, 183T
CDKL5, 2-BP DEL, 2636CT
CDKL5, 2-BP INS, 903GA
CDKL5, 4-BP DEL, 166GAAA
CDKL5, IVS6AS, G-T, -1
CDKL5, IVSAS13, G-A, -1
DCX, IVS4, G-A, +1
DLAT, 3-BP DEL, 361GAA
EFNB1, EX2-5DEL
FMR1, (CGG)n EXPANSION
FOXG1, 1-BP DEL, 969C
FOXG1, 1-BP DUP, 460G
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
GRCh37/hg19 Xq28(chrX:147642893-147870805)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
GRIA3, 0.4-MB DEL
HCCS, 8.6-KB DEL
HPRT CHERMSIDE
HPRT CHICAGO
HPRT CONNERSVILLE
HPRT COORPAROO
HPRT MICHIGAN
HPRT, 1-BP DEL, TTA-TA
HPRT, 1-BP DEL, TTG-TG
HPRT, 13-BP DEL, 5-PRIME UTR
HPRT, 2-BP DEL, GT
HPRT, 40-BP DEL
HPRT, DEL
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX2DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
HPRT,1-BP INS, 207G
IGBP1, -57delT and -55T-A, 5-PRIME UTR
IKBKG, 10-BP INS, NT127
IKBKG, EXON 4-10 DEL
KDM5C, 1-BP INS, 202C
L1CAM, 1.3-KB DUP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
LAS1L, ALA269GLY
LAS1L, ARG415TRP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
Multiple alleles
NC_000004.12:g.(?_39458194)_(39527105_?)dup
NC_000004.12:g.(?_39459098)_(39477135_?)dup
NC_000006.12:g.146414070_146715778del301709
NC_000009.11:g.76940012C>T
NC_000014.9:g.(?_28767260)_(28768769_?)dup
NC_000014.9:g.31012250_32193706del1181457
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_17393861)_(17653740_?)del
NC_000023.10:g.(?_17393861)_(17753592_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)del
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NC_000023.10:g.109412385_109552503dup
NC_000023.10:g.15323210_153542100dup
NC_000023.10:g.64171841_64267316del95476
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.(68839265_68839268)_(68847656_68847659)del
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_126549383)_(129592556_?)del
NC_000023.11:g.(?_134460292)_(134500097_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_149478764)_(149505354_?)del
NC_000023.11:g.(?_17692315)_(17692488_?)del
NC_000023.11:g.(?_18506935)_(18510854_?)dup
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24465436)_(24539184_?)dup
NC_000023.11:g.(?_24494722)_(24539184_?)del
NC_000023.11:g.(?_38381322)_(38413090_?)del
NC_000023.11:g.(?_38401255)_(38401693_?)del
NC_000023.11:g.(?_40051246)_(40075180_?)del
NC_000023.11:g.(?_40052108)_(40077930_?)del
NC_000023.11:g.(?_40057155)_(40077969_?)del
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_47572844)_(47619748_?)dup
NC_000023.11:g.(?_47604958)_(47619748_?)dup
NC_000023.11:g.(?_71129114)_(71130214_?)dup
NC_000023.11:g.110250890_110665082del
NC_000023.11:g.120539264_120539267delTTAC
NC_000023.11:g.154015897_154030807del14911
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT
NC_000023.11:g.154030108_154030672del565 rs1557134621
NC_000023.11:g.154030554_154031128del575
NC_000023.11:g.18604071_18604075delACCTA
NC_000023.11:g.78195010_79012636del817627
NC_000023.9:g.(?_139330000)_(154580000_?)dup
NC_000023.9:g.(?_152730000)_(153020000_?)dup
NC_000023.9:g.146703942_146820448del
NDP, 1-BP DEL
NEXMIF, 70-KB DUP
NG_008638.1:g.(16327)_24584del
NG_008638.1:g.23614_27859del4246
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_008880.1:g.127856_129265del1410
NG_008960.1:g.224486-?_245539+?del
NG_009896.1:g.5147G>A
NG_012329.1:g.(38034_38038)_(46028_46032)del
NG_013224.2:g.(?_4960)_(103567_105489)dup
NG_013368.1:g.5604_20276del
NG_016754.1:g.5000-?_5105+?del
NG_016781.1:g.11219_12516dup
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.3(ABCD1):c.*10C>T rs1057515814
NM_000033.3(ABCD1):c.*123C>T rs186542134
NM_000033.3(ABCD1):c.*196C>G rs367591611
NM_000033.3(ABCD1):c.*208G>C rs193922092
NM_000033.3(ABCD1):c.*259A>G rs374092960
NM_000033.3(ABCD1):c.*412T>C rs1057515815
NM_000033.3(ABCD1):c.*473C>T rs782343473
NM_000033.3(ABCD1):c.*481G>T rs199942817
NM_000033.3(ABCD1):c.*530G>A rs67211405
NM_000033.3(ABCD1):c.*555_*561delGAGAGGG rs1057515816
NM_000033.3(ABCD1):c.*564G>A rs782819878
NM_000033.3(ABCD1):c.*608G>A rs73640819
NM_000033.3(ABCD1):c.*668C>T rs187420166
NM_000033.3(ABCD1):c.*795C>T rs1057515817
NM_000033.3(ABCD1):c.*870G>T rs72616452
NM_000033.3(ABCD1):c.*877C>T rs11803
NM_000033.3(ABCD1):c.*894G>A rs1055847
NM_000033.3(ABCD1):c.*8G>C rs2229539
NM_000033.3(ABCD1):c.*903G>A rs78155328
NM_000033.3(ABCD1):c.*985C>G rs782309410
NM_000033.3(ABCD1):c.-10C>T rs782754717
NM_000033.3(ABCD1):c.-18_8del (p.Met1_Gly66del) rs387906497
NM_000033.3(ABCD1):c.-202C>G rs781978041
NM_000033.3(ABCD1):c.-342G>A rs912340339
NM_000033.3(ABCD1):c.-59C>T rs4148030
NM_000033.3(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.3(ABCD1):c.1096A>T (p.Lys366Ter)
NM_000033.3(ABCD1):c.1126G>T (p.Glu376Ter)
NM_000033.3(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.3(ABCD1):c.1181C>T (p.Ala394Val)
NM_000033.3(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.3(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.3(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.3(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.3(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.3(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.3(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) rs193922093
NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.3(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) rs387906494
NM_000033.3(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.3(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.3(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.3(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.3(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.3(ABCD1):c.146_159delCCGCCGGGGAGCCC (p.Pro49Hisfs)
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.1523C>A (p.Pro508His)
NM_000033.3(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.3(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.3(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.3(ABCD1):c.1534G>A (p.Gly512Ser)
NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.3(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.3(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.3(ABCD1):c.1552del (p.Arg518Glyfs) rs387906495
NM_000033.3(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.3(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.3(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.3(ABCD1):c.1599G>T (p.Lys533Asn)
NM_000033.3(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.3(ABCD1):c.1634+1G>A
NM_000033.3(ABCD1):c.1635-2A>G
NM_000033.3(ABCD1):c.1644G>A (p.Met548Ile)
NM_000033.3(ABCD1):c.1660dup (p.Arg554Profs)
NM_000033.3(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.3(ABCD1):c.16_22delAGGCCCCinsCT (p.Arg6Leufs) rs1557052133
NM_000033.3(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.3(ABCD1):c.1746_1748delCGT (p.Val583del) rs1557054859
NM_000033.3(ABCD1):c.1747G>A (p.Val583Met)
NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.3(ABCD1):c.1763T>A (p.Ile588Asn)
NM_000033.3(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.3(ABCD1):c.1780+2T>G rs1557054875
NM_000033.3(ABCD1):c.1780+4G>A rs193922095
NM_000033.3(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.3(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.3(ABCD1):c.1820_1823delGTGG (p.Gly607Alafs) rs1557055253
NM_000033.3(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.3(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.3(ABCD1):c.1865+1G>A
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.1866-1G>A
NM_000033.3(ABCD1):c.1876G>A (p.Ala626Thr)
NM_000033.3(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.3(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.3(ABCD1):c.1978C>T (p.Arg660Trp)
NM_000033.3(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.3(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.3(ABCD1):c.1998_1999insGC (p.His667Alafs) rs1557055392
NM_000033.3(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.3(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.3(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.3(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.3(ABCD1):c.2134C>T (p.Arg712Cys)
NM_000033.3(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.3(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.3(ABCD1):c.229_237delTGGCTCCTG (p.Trp77_Leu79del)
NM_000033.3(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.3(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.3(ABCD1):c.253_254insC (p.Arg85Profs) rs713993050
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.3(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.3(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.3(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.3(ABCD1):c.415_417delCTC (p.Leu139del) rs1557052351
NM_000033.3(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.3(ABCD1):c.433A>G (p.Thr145Ala)
NM_000033.3(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.3(ABCD1):c.452T>C (p.Ile151Thr)
NM_000033.3(ABCD1):c.454C>T (p.Arg152Cys)
NM_000033.3(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.3(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.3(ABCD1):c.50G>A (p.Arg17His)
NM_000033.3(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.3(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.3(ABCD1):c.537_544dup (p.Arg182Profs) rs1557052397
NM_000033.3(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.3(ABCD1):c.582C>G (p.Asp194Glu)
NM_000033.3(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.3(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.3(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.70delC (p.Leu24Serfs) rs1557052171
NM_000033.3(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.3(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.3(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.3(ABCD1):c.766_769dup (p.Val257Glufs) rs1557052530
NM_000033.3(ABCD1):c.773T>C (p.Leu258Pro)
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.3(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.3(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.3(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
NM_000033.4(ABCD1):c.1225-7_1239del
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
NM_000033.4(ABCD1):c.2010dup (p.Leu671Alafs)
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
NM_000033.4:c.1628delC
NM_000052.4(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.6(ATP7A):c.1006G>T (p.Glu336Ter) rs797045325
NM_000052.6(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.6(ATP7A):c.1020_1024dupGGGGC (p.Leu342Argfs) rs797045327
NM_000052.6(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.6(ATP7A):c.1159A>C (p.Thr387Pro)
NM_000052.6(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.6(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.6(ATP7A):c.1355delT (p.Val452Glufs) rs797045329
NM_000052.6(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.6(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.6(ATP7A):c.1537G>T (p.Glu513Ter)
NM_000052.6(ATP7A):c.1544-1G>A rs797045331
NM_000052.6(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.6(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.6(ATP7A):c.1667_1668delTA (p.Ile556Argfs) rs797045333
NM_000052.6(ATP7A):c.1707+1G>A
NM_000052.6(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.6(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.6(ATP7A):c.1789G>A (p.Val597Met) rs781959472
NM_000052.6(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.6(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.6(ATP7A):c.1831G>T (p.Glu611Ter) rs797045337
NM_000052.6(ATP7A):c.1870-1G>C rs797045338
NM_000052.6(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.6(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.6(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.6(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.6(ATP7A):c.1946+1G>C rs797045340
NM_000052.6(ATP7A):c.1946+5G>A rs797045341
NM_000052.6(ATP7A):c.1947-1G>A rs794729231
NM_000052.6(ATP7A):c.1947-1G>C rs794729231
NM_000052.6(ATP7A):c.1950G>A (p.Trp650Ter) rs797045342
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.1978_2008dup31 (p.Tyr670Phefs) rs797045343
NM_000052.6(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.6(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.6(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.6(ATP7A):c.2160T>A (p.Cys720Ter) rs797045346
NM_000052.6(ATP7A):c.2172+5G>C rs797045347
NM_000052.6(ATP7A):c.2172+7G>T rs782433802
NM_000052.6(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.6(ATP7A):c.2173-2A>G rs797045349
NM_000052.6(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.6(ATP7A):c.2179G>T (p.Gly727Ter) rs72554644
NM_000052.6(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.6(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.6(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.6(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.6(ATP7A):c.2248_2251dupATTG (p.Val751Aspfs) rs797045352
NM_000052.6(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.6(ATP7A):c.2302delG (p.Ala768Glnfs) rs797045353
NM_000052.6(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.6(ATP7A):c.2357T>G (p.Met786Arg) rs797045354
NM_000052.6(ATP7A):c.2395_2405delCATATAGCAAAinsAGCATC (p.His799Serfs) rs797045355
NM_000052.6(ATP7A):c.2405_2406+1delinsT rs797045356
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.6(ATP7A):c.2467delG (p.Val823Terfs)
NM_000052.6(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.6(ATP7A):c.2498+2T>A rs797045357
NM_000052.6(ATP7A):c.2499-1G>A rs797045359
NM_000052.6(ATP7A):c.2499-1_2504dupGTGAAGA rs797045358
NM_000052.6(ATP7A):c.2499-9T>C rs1557235070
NM_000052.6(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.6(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.6(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.6(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.6(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.6(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.6(ATP7A):c.2645dupC (p.Lys883Terfs) rs797045361
NM_000052.6(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.6(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.6(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.6(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.6(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.6(ATP7A):c.2815G>A (p.Gly939Ser)
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.6(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.6(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.6(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.6(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.6(ATP7A):c.3028_3030delACTinsGTG (p.Thr1010Val) rs1557236745
NM_000052.6(ATP7A):c.3037_3038delATinsGA (p.Met1013Glu) rs1557236747
NM_000052.6(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.6(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.6(ATP7A):c.3068_3082delGCATACTAATAAAAG (p.Ile1024_Gly1028del) rs797045366
NM_000052.6(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.6(ATP7A):c.3111+1G>A rs1557236762
NM_000052.6(ATP7A):c.3112-1G>A rs797045367
NM_000052.6(ATP7A):c.3124delG (p.Val1042Tyrfs) rs797045368
NM_000052.6(ATP7A):c.3127_3131delTTTGAinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) rs797045369
NM_000052.6(ATP7A):c.3132T>G (p.Asp1044Glu) rs797045370
NM_000052.6(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
NM_000052.6(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.6(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.6(ATP7A):c.317C>T (p.Thr106Ile)
NM_000052.6(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.6(ATP7A):c.3285T>G (p.Tyr1095Ter) rs797045372
NM_000052.6(ATP7A):c.3288C>A (p.Cys1096Ter) rs797045373
NM_000052.6(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.6(ATP7A):c.3294+1G>T rs797045374
NM_000052.6(ATP7A):c.3340delG (p.Val1114Cysfs) rs797045375
NM_000052.6(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.6(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.6(ATP7A):c.3379G>T (p.Glu1127Ter) rs797045377
NM_000052.6(ATP7A):c.3457A>G (p.Ser1153Gly)
NM_000052.6(ATP7A):c.3466C>T (p.Gln1156Ter) rs797045378
NM_000052.6(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.6(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.6(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.6(ATP7A):c.3502C>T (p.Gln1168Ter) rs797045379
NM_000052.6(ATP7A):c.3537delA (p.Val1180Serfs) rs797045380
NM_000052.6(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.6(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.6(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.6(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.6(ATP7A):c.3764G>A (p.Gly1255Glu) rs797045382
NM_000052.6(ATP7A):c.3774delTinsATGACTGG (p.Ser1258Argfs) rs797045383
NM_000052.6(ATP7A):c.3775_3776delAAinsTTAC (p.Lys1259Leufs) rs797045384
NM_000052.6(ATP7A):c.3790A>G (p.Ile1264Val)
NM_000052.6(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.6(ATP7A):c.3801+1G>T rs797045386
NM_000052.6(ATP7A):c.3801+4A>G rs797045387
NM_000052.6(ATP7A):c.3801+6T>C rs181665434
NM_000052.6(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.6(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.6(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.6(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.6(ATP7A):c.3920C>G (p.Pro1307Arg) rs797045388
NM_000052.6(ATP7A):c.3920delC (p.Pro1307Glnfs) rs797045389
NM_000052.6(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.6(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.6(ATP7A):c.4005+1G>T rs797045391
NM_000052.6(ATP7A):c.4006-1G>A rs1557238665
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.4014_4016delTCT (p.Leu1339del) rs797045392
NM_000052.6(ATP7A):c.408_415del (p.Asn137Lysfs)
NM_000052.6(ATP7A):c.4123+1G>A rs797045393
NM_000052.6(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.6(ATP7A):c.4132dupA (p.Met1378Asnfs) rs797045395
NM_000052.6(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000052.6(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.6(ATP7A):c.421_422delGA (p.Glu141Alafs) rs797045397
NM_000052.6(ATP7A):c.4226+5G>A rs797045398
NM_000052.6(ATP7A):c.4226+9G>A rs1557239012
NM_000052.6(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.6(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.6(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.6(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.6(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.6(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.6(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.6(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.6(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.6(ATP7A):c.502G>A (p.Ala168Thr)
NM_000052.6(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.6(ATP7A):c.598C>T (p.Gln200Ter) rs797045399
NM_000052.6(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.6(ATP7A):c.610+8G>A rs144616937
NM_000052.6(ATP7A):c.844A>G (p.Ile282Val)
NM_000052.6(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.6(ATP7A):c.876delG (p.Ser293Glnfs) rs797045400
NM_000052.6(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.6(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.6(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.6(ATP7A):c.92G>A (p.Gly31Glu)
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000108.3(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.3(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.3(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.3(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.4(DLD):c.*1088A>G rs886061912
NM_000108.4(DLD):c.*1092C>T rs546777301
NM_000108.4(DLD):c.*1307C>T rs568807016
NM_000108.4(DLD):c.*1451T>C rs2108223
NM_000108.4(DLD):c.*167T>C rs886061909
NM_000108.4(DLD):c.*1688G>A rs8440
NM_000108.4(DLD):c.*1724C>G rs886061913
NM_000108.4(DLD):c.*1736T>C rs190655078
NM_000108.4(DLD):c.*1791_*1794delTTTA rs760145994
NM_000108.4(DLD):c.*1857A>C rs774099916
NM_000108.4(DLD):c.*1877A>G rs182010485
NM_000108.4(DLD):c.*18A>T rs8721
NM_000108.4(DLD):c.*207G>A rs4564
NM_000108.4(DLD):c.*225C>T rs553824101
NM_000108.4(DLD):c.*28G>T rs17154615
NM_000108.4(DLD):c.*355A>G rs886061910
NM_000108.4(DLD):c.*470G>A rs111619940
NM_000108.4(DLD):c.*487C>T rs4518
NM_000108.4(DLD):c.*498T>G rs886061911
NM_000108.4(DLD):c.*648G>A rs57801571
NM_000108.4(DLD):c.*855C>T rs116055514
NM_000108.4(DLD):c.*947G>T rs7777259
NM_000108.4(DLD):c.*978T>C rs2158835
NM_000108.4(DLD):c.-8G>T rs372155330
NM_000108.4(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.4(DLD):c.104dupA (p.Tyr35Terfs) rs753234219
NM_000108.4(DLD):c.105del (p.Tyr35Terfs) rs1554396895
NM_000108.4(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.4(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.4(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.4(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.4(DLD):c.118+1G>T rs1554396908
NM_000108.4(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.4(DLD):c.1236+1G>T rs1554400483
NM_000108.4(DLD):c.12G>A (p.Trp4Ter)
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.4(DLD):c.1421del (p.Gly474Glufs) rs1554400699
NM_000108.4(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.4(DLD):c.1429_1432del (p.Cys477Lysfs) rs1554400704
NM_000108.4(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.4(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.4(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.4(DLD):c.1446_1447del (p.Arg482Serfs) rs1554400713
NM_000108.4(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.4(DLD):c.1463del (p.Pro488Argfs) rs1554400720
NM_000108.4(DLD):c.1465-7C>G rs886061908
NM_000108.4(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.4(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.4(DLD):c.1520_1523delTCAA (p.Ile507Thrfs) rs777884525
NM_000108.4(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.4(DLD):c.198+1G>A rs1554398193
NM_000108.4(DLD):c.199-1G>A rs1554398264
NM_000108.4(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.4(DLD):c.223dupA (p.Thr75Asnfs) rs1057517214
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.267+15delT rs886061906
NM_000108.4(DLD):c.268-2A>G rs1554398461
NM_000108.4(DLD):c.338-2_338-1delAGinsT rs1554398624
NM_000108.4(DLD):c.345del (p.Val116Phefs) rs1554398625
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.39+1G>A rs111257462
NM_000108.4(DLD):c.439-6G>C rs369208046
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.55C>G (p.Arg19Gly)
NM_000108.4(DLD):c.633dupA (p.Val212Serfs) rs1040811473
NM_000108.4(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.685-14T>A rs80111449
NM_000108.4(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.4(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.4(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.4(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.4(DLD):c.82delT (p.Ser28Leufs) rs764704217
NM_000108.4(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000108.4(DLD):c.865dup (p.Ile289Asnfs) rs1554400179
NM_000108.5(DLD):c.875+1G>A
NM_000156.5(GAMT):c.*146A>C rs659455
NM_000156.5(GAMT):c.*151T>C rs659460
NM_000156.5(GAMT):c.*276C>T rs266810
NM_000156.5(GAMT):c.*311C>G rs266811
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000166.5(GJB1):c.-103C>T rs863224971
NM_000166.5(GJB1):c.-16-2A>G rs751230398
NM_000166.5(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.5(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.5(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.5(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.5(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.5(GJB1):c.225delG (p.Leu76Cysfs) rs116840820
NM_000166.5(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.5(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.5(GJB1):c.394T>C (p.Trp132Arg)
NM_000166.5(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.5(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.5(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.5(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.5(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.5(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.5(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.5(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.5(GJB1):c.590C>T (p.Ala197Val)
NM_000166.5(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.5(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.5(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.5(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.5(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000194.2(HPRT1):c.-707_27+2236del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.134G>A (p.Arg45Lys) rs137852491
NM_000194.2(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.193C>T (p.Leu65Phe) rs137852506
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.368C>G (p.Ser123Ter)
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.428T>A (p.Met143Lys) rs137852496
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.47G>T (p.Gly16Val) rs1135401801
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) rs137852498
NM_000194.2(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.2(HPRT1):c.527C>T (p.Pro176Leu) rs137852493
NM_000194.2(HPRT1):c.529G>T (p.Asp177Tyr) rs137852492
NM_000194.2(HPRT1):c.536T>C (p.Val179Ala)
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) rs267606863
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.609dup (p.His204Serfs) rs1556030169
NM_000194.2(HPRT1):c.610-4_610-2delATAinsTTT rs672601245
NM_000194.2(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000194.3(HPRT1):c.28-2A>T
NM_000194.3(HPRT1):c.532+5G>A
NM_000194.3(HPRT1):c.609+5G>A
NM_000202.5(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.7(IDS):c.-217_103del320 rs1557340558
NM_000202.7(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.7(IDS):c.1006+1G>T rs869025308
NM_000202.7(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.7(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.7(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.7(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.7(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.7(IDS):c.1106C>A (p.Ser369Ter)
NM_000202.7(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.7(IDS):c.1132_1133del (p.Phe378Profs) rs869025306
NM_000202.7(IDS):c.1144G>C (p.Asp382His)
NM_000202.7(IDS):c.1181-1G>A rs864622777
NM_000202.7(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.7(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.7(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.7(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.7(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.7(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.7(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.7(IDS):c.1463del (p.Met488Argfs) rs869025307
NM_000202.7(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.7(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.7(IDS):c.191T>A (p.Ile64Asn) rs781997631
NM_000202.7(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.7(IDS):c.22_37del16 (p.Arg8Trpfs) rs864622775
NM_000202.7(IDS):c.241-5A>T rs113993952
NM_000202.7(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.7(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.7(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.7(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.7(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.7(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.7(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.7(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.7(IDS):c.411delT (p.His138Thrfs) rs864622776
NM_000202.7(IDS):c.419-1G>A rs1557339927
NM_000202.7(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.7(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.7(IDS):c.463_464delTTinsCCGTATAGCTGG (p.Phe155Profs) rs869025304
NM_000202.7(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.7(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.7(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.7(IDS):c.476_478delATC (p.His159del) rs1557339887
NM_000202.7(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.7(IDS):c.508-1G>A rs113993947
NM_000202.7(IDS):c.508-1G>C rs113993947
NM_000202.7(IDS):c.509_510del (p.Thr170Metfs) rs483352904
NM_000202.7(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.7(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.7(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.7(IDS):c.702C>A (p.Tyr234Ter)
NM_000202.7(IDS):c.708+1G>A rs864622778
NM_000202.7(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000202.7(IDS):c.754_767del (p.Asp252Terfs) rs869025305
NM_000202.7(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.7(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.7(IDS):c.908_909delCT (p.Ser303Cysfs) rs193302913
NM_000202.7(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.7(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)
NM_000202.8(IDS):c.587_590del (p.Pro197Thrfs)
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.708G>A (p.Lys236=)
NM_000202.8(IDS):c.811A>T (p.Arg271Trp)
NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.3(MAOA):c.402G>A (p.Met134Ile)
NM_000240.3(MAOA):c.515G>A (p.Arg172Gln) rs58524323
NM_000240.3(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000240.3(MAOA):c.749_750insT (p.Ser251Lysfs) rs796065311
NM_000240.3(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000240.3(MAOA):c.890G>A (p.Arg297Gln)
NM_000252.2(MTM1):c.1014_1015insT (p.Ser339Phefs) rs797045709
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1053+1G>A
NM_000252.2(MTM1):c.1053+1G>C rs587783751
NM_000252.2(MTM1):c.1088_1089del (p.Lys363Serfs) rs587783752
NM_000252.2(MTM1):c.1089dupA (p.Val364Serfs) rs587783752
NM_000252.2(MTM1):c.109C>T (p.Arg37Ter) rs587783753
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.2(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.2(MTM1):c.1178dup (p.Leu393Phefs) rs1557414513
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg)
NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu)
NM_000252.2(MTM1):c.1227_1228delAGinsT (p.Lys409Asnfs) rs797045711
NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.2(MTM1):c.1260+1G>A rs587783768
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261-1G>C rs587783770
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1283_1286del (p.Asn428Thrfs) rs587783773
NM_000252.2(MTM1):c.1283del (p.Asn428Thrfs) rs797045712
NM_000252.2(MTM1):c.1304_1306del (p.Pro436del) rs797045713
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1307del (p.Pro436Leufs) rs587783775
NM_000252.2(MTM1):c.130dup (p.Ile44Asnfs) rs797045714
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1353+1G>A rs587783779
NM_000252.2(MTM1):c.1353+2T>C rs587783780
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1354-1G>A rs587783782
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
NM_000252.2(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.2(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter)
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.2(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.2(MTM1):c.141_144delAGAA (p.Glu48Leufs) rs587783791
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.2(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.2(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.2(MTM1):c.1464_1467del (p.Gln489Argfs) rs587783797
NM_000252.2(MTM1):c.1467+1G>A rs587783798
NM_000252.2(MTM1):c.1467+1G>T rs587783798
NM_000252.2(MTM1):c.1467+2T>A rs587783799
NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.2(MTM1):c.1509del (p.Asn503Lysfs) rs587783802
NM_000252.2(MTM1):c.153_156del (p.Ile52Valfs) rs587783803
NM_000252.2(MTM1):c.154del (p.Ile52Tyrfs) rs587783804
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.2(MTM1):c.1667G>A (p.Arg556His)
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro)
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.1792del (p.His598Metfs) rs34119065
NM_000252.2(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.2(MTM1):c.231+1G>A rs587783810
NM_000252.2(MTM1):c.231+2T>G rs587783811
NM_000252.2(MTM1):c.232-1G>A rs587783812
NM_000252.2(MTM1):c.232-2A>C rs587783813
NM_000252.2(MTM1):c.232-3C>A rs587783814
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.252del (p.Asp84Glufs) rs587783815
NM_000252.2(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.2(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.2(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.2(MTM1):c.342+1G>A rs1557413092
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.342_342+4delAGTAA rs797045717
NM_000252.2(MTM1):c.343-2A>G rs587783821
NM_000252.2(MTM1):c.397_398del (p.Met133Valfs) rs587783822
NM_000252.2(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.2(MTM1):c.402del (p.Phe134Leufs) rs587783824
NM_000252.2(MTM1):c.419_420insA (p.Tyr140Terfs) rs797045718
NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.423G>A (p.Ala141=) rs377311110
NM_000252.2(MTM1):c.431delT (p.Leu144Argfs) rs587783826
NM_000252.2(MTM1):c.465del (p.Asn155Lysfs) rs1557413783
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.469del (p.Glu157Lysfs) rs587783827
NM_000252.2(MTM1):c.481G>A (p.Val161Met)
NM_000252.2(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.528+1G>T rs587783830
NM_000252.2(MTM1):c.529-2A>G rs587783831
NM_000252.2(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.2(MTM1):c.539_545del (p.Asn180Ilefs) rs587783833
NM_000252.2(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.2(MTM1):c.549_550insG (p.Arg184Glufs) rs797045719
NM_000252.2(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.2(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000252.2(MTM1):c.591_594del (p.Tyr198Leufs) rs587783839
NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser)
NM_000252.2(MTM1):c.605del (p.Leu202Trpfs) rs672601325
NM_000252.2(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.2(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.2(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.2(MTM1):c.63+1G>A rs587783843
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.2(MTM1):c.64-1G>A rs587783846
NM_000252.2(MTM1):c.65C>T (p.Thr22Met)
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.678+1G>A rs587783849
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.2(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.2(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.2(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.2(MTM1):c.805_808del (p.Gln270Phefs) rs797045720
NM_000252.2(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.867+1_867+2insGG rs797045721
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000252.2(MTM1):c.888_889del (p.Ser297Terfs) rs587783859
NM_000252.2(MTM1):c.912del (p.Glu305Asnfs) rs587783860
NM_000252.2(MTM1):c.924_926del (p.Phe308del) rs587783862
NM_000252.2(MTM1):c.949dup (p.Met317Asnfs) rs797045722
NM_000252.2(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.2(MTM1):c.961_962del (p.Leu321Lysfs) rs587783864
NM_000252.2(MTM1):c.969del (p.Val324Terfs) rs587783865
NM_000252.2(MTM1):c.969dup (p.Val324Serfs) rs587783865
NM_000252.2(MTM1):c.96dup (p.Glu33Terfs) rs797045724
NM_000266.3(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.3(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.3(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.3(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.3(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.3(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.3(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.3(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000266.3(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.3(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.3(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.3(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.3(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.3(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.3(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.3(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.3(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000276.3(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.3(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.3(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.3(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.3(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.3(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.3(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.3(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.3(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.3(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.3(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.3(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.3(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.3(OCRL):c.1367A>C (p.Gln456Pro)
NM_000276.3(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.3(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.3(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.3(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.3(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.3(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.3(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.3(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.3(OCRL):c.1514G>A (p.Gly505Glu)
NM_000276.3(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.3(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.3(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.3(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.3(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.3(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.3(OCRL):c.1602G>A (p.Gly534=) rs773214157
NM_000276.3(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000276.3(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.3(OCRL):c.2299C>T (p.Gln767Ter) rs794727333
NM_000276.3(OCRL):c.238+4701A>G rs1057515577
NM_000276.3(OCRL):c.2389G>C (p.Ala797Pro)
NM_000276.3(OCRL):c.2427G>A (p.Gln809=) rs145277867
NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.3(OCRL):c.2563delG (p.Val855Serfs) rs398123288
NM_000276.3(OCRL):c.2582-1G>A rs398123289
NM_000276.3(OCRL):c.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.3(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.3(OCRL):c.324C>T (p.Leu108=) rs754424104
NM_000276.3(OCRL):c.40-5C>T rs201211377
NM_000276.3(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000276.3(OCRL):c.560+1G>C
NM_000276.3(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.3(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.3(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.3(OCRL):c.860dup (p.Tyr288Leufs) rs1556345889
NM_000276.3(OCRL):c.909_910delAG (p.Gly304Phefs) rs398123290
NM_000276.3(OCRL):c.940-11G>A rs776743373
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)
NM_000284.3(PDHA1):c.*79_*90dup rs1555935690
NM_000284.3(PDHA1):c.1026_1039del14 (p.Arg343Glyfs)
NM_000284.3(PDHA1):c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) rs1555935486
NM_000284.3(PDHA1):c.1073_1092del (p.Glu358Glyfs) rs606231187
NM_000284.3(PDHA1):c.1074_1109dup (p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleTyrSer) rs606231191
NM_000284.3(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.3(PDHA1):c.1142_1145dupATCA (p.Trp383Serfs) rs606231189
NM_000284.3(PDHA1):c.1159_1160del (p.Lys387Valfs) rs606231186
NM_000284.3(PDHA1):c.1167_1170del (p.Ser390Lysfs) rs606231184
NM_000284.3(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.3(PDHA1):c.225G>T (p.Glu75Asp)
NM_000284.3(PDHA1):c.265G>A (p.Gly89Ser)
NM_000284.3(PDHA1):c.292-23A>G rs1057518702
NM_000284.3(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.3(PDHA1):c.300_301dup (p.Cys101Serfs)
NM_000284.3(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.3(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.3(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.3(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.3(PDHA1):c.482A>G (p.Tyr161Cys)
NM_000284.3(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.3(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.3(PDHA1):c.523G>A (p.Ala175Thr)
NM_000284.3(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.3(PDHA1):c.58-1G>A
NM_000284.3(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.3(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.3(PDHA1):c.759+26G>A rs1555934413
NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.3(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.3(PDHA1):c.861_862insT (p.Arg288Serfs) rs606231190
NM_000284.3(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.3(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.3(PDHA1):c.910C>T (p.Arg304Ter) rs863224146
NM_000284.3(PDHA1):c.917_918insTAGTTACCGTACACGAGAAGA (p.Glu305_Glu306insAspSerTyrArgThrArgGlu) rs606231188
NM_000284.3(PDHA1):c.930_932delAAG (p.Arg311del) rs1555935223
NM_000284.3(PDHA1):c.934_940del (p.Ser312Valfs) rs606231185
NM_000284.3(PDHA1):c.937_939del (p.Lys313del) rs137853251
NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000291.3(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.3(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.3(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.3(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000291.3(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.3(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.3(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.3(PGK1):c.574_576del (p.Lys192del) rs431905502
NM_000291.3(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.3(PGK1):c.756+5G>A rs431905503
NM_000291.3(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.3(PGK1):c.796_798delGTCinsATG (p.Val266Met) rs431905501
NM_000291.3(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.3(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.3(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.3(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000314.4(PTEN):c.-1154G>A rs786203674
NM_000314.4(PTEN):c.-1190G>A rs587779982
NM_000314.4(PTEN):c.-1246C>G rs1554889801
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.-821G>T rs587779993
NM_000314.4(PTEN):c.-834C>T rs587779994
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.6(PTEN):c.-665G>A rs553371022
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.253+2T>A rs1224040268
NM_000314.6(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.6(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.6(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.6(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000425.3:c.749delG
NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_000425.4(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_000425.4(L1CAM):c.1570C>T (p.Pro524Ser)
NM_000425.4(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_000425.4(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_000425.4(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_000425.4(L1CAM):c.2432-19A>C rs879253713
NM_000425.4(L1CAM):c.3458-1G>C rs879253724
NM_000425.4(L1CAM):c.3489_3490delTG (p.Glu1164Glyfs) rs879253714
NM_000425.4(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_000425.4(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518
NM_000425.4(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_000425.4(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_000425.4(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_000425.4(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_000425.4(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_000425.4(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_000425.4(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_000425.5(L1CAM):c.3166+1G>A
NM_000489.3(ATRX):c.4377_4379delGGA (p.Glu1464del) rs398123423
NM_000489.4(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.4(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.4(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.4(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.4(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.4(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.4(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.4(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.4(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.4(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.4(ATRX):c.2150C>T (p.Pro717Leu) rs372617572
NM_000489.4(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.4(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.4(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.4(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.4(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.4(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.4(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.4(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.4(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.4(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.4(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.4(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.4(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.4(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.4(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.4(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.4(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.4(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.4(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.4(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.4(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.4(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.4(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.4(ATRX):c.4120+4A>C rs200420513
NM_000489.4(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.4(ATRX):c.4214+6A>G rs782562759
NM_000489.4(ATRX):c.4347_4358delAGAAGAGGAGGA (p.Glu1461_Glu1464del) rs1557117424
NM_000489.4(ATRX):c.4350_4352delAGA (p.Glu1464del) rs587780288
NM_000489.4(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.4(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.4(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.4(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.4(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.4(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.4(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.4(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.4(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.4(ATRX):c.5787-8_5787-5delGTTT rs782072699
NM_000489.4(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.4(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.4(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.4(ATRX):c.6240C>T (p.Asn2080=) rs1557069232
NM_000489.4(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.4(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.4(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.4(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.4(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.4(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.4(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.4(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.4(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.4(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.4(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.4(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del)
NM_000489.5(ATRX):c.1509A>G (p.Gln503=)
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg)
NM_000489.5(ATRX):c.167T>A (p.Met56Lys)
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val)
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly)
NM_000489.5(ATRX):c.2247_2249del (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu)
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn)
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile)
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2901A>G (p.Lys967=) rs782680197
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val)
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln)
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile)
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val)
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile)
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile)
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=)
NM_000489.5(ATRX):c.4359_4361del (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys)
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro)
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5698-7dup rs781820607
NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5974_5976delTCT (p.Ser1992del)
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu)
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile)
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr)
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu)
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter)
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys)
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu)
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.829G>C (p.Val277Leu)
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000531.5(OTC):c.*105C>T rs1036076773
NM_000531.5(OTC):c.*106G>A rs766318571
NM_000531.5(OTC):c.*276A>G rs1016109235
NM_000531.5(OTC):c.-115C>T rs1555971008
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.5(OTC):c.-139A>G rs1555971001
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-157T>G rs1555970997
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.5(OTC):c.-48G>T rs182454762
NM_000531.5(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.5(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.5(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.5(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.5(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.5(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.5(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.5(OTC):c.216+9C>T rs774764719
NM_000531.5(OTC):c.217-1G>A rs72554327
NM_000531.5(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.5(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.5(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.5(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.5(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.5(OTC):c.298+1G>A rs68058881
NM_000531.5(OTC):c.298+2dup rs1555972540
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.299-8T>A rs73196229
NM_000531.5(OTC):c.307C>T (p.Leu103Phe)
NM_000531.5(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.5(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.5(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.5(OTC):c.385C>T (p.Arg129Cys) rs140046498
NM_000531.5(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.5(OTC):c.387-2A>T rs66556380
NM_000531.5(OTC):c.403delG (p.Ala135Glnfs) rs72556255
NM_000531.5(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.5(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.5(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.5(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.5(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.5(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.5(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.5(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000531.5(OTC):c.540+265G>A rs1555975756
NM_000531.5(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.5(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.5(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.5(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.5(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.5(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.5(OTC):c.663+1G>T rs68170503
NM_000531.5(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.5(OTC):c.717+2T>C rs72558431
NM_000531.5(OTC):c.717+3A>G rs72558432
NM_000531.5(OTC):c.718-14T>C rs55722856
NM_000531.5(OTC):c.72_77+18del24 rs863225061
NM_000531.5(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.5(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.5(OTC):c.77+2dup
NM_000531.5(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.5(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.5(OTC):c.817_819delGAG (p.Glu273del) rs72558452
NM_000531.5(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.5(OTC):c.867+1126A>G
NM_000531.5(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.5(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.5(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.5(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.961T>C (p.Ser321Pro)
NM_000533.3(PLP1):c.453+2T>C rs1556267388
NM_000533.4(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.4(PLP1):c.166C>T (p.Gln56Ter)
NM_000533.4(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_000533.4(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_000533.4(PLP1):c.41C>A (p.Ala14Asp)
NM_000533.4(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_000533.4(PLP1):c.677C>G (p.Ser226Cys)
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)
NM_000555.3(DCX):c.191C>T (p.Pro64Leu) rs761786389
NM_000555.3(DCX):c.433T>A (p.Tyr145Asn) rs1556405129
NM_000555.3(DCX):c.469C>G (p.Arg157Gly)
NM_000828.4(GRIA3):c.2116A>C (p.Met706Leu)
NM_000828.4(GRIA3):c.2447C>T (p.Thr816Ile)
NM_000828.4(GRIA3):c.527C>T (p.Ala176Val) rs764670975
NM_000925.3(PDHB):c.*199T>G rs886058777
NM_000925.3(PDHB):c.*243A>C rs1126722
NM_000925.3(PDHB):c.*296C>G rs7231
NM_000925.3(PDHB):c.*353T>C rs1126735
NM_000925.3(PDHB):c.*356A>G rs1126737
NM_000925.3(PDHB):c.*360A>G rs886058776
NM_000925.3(PDHB):c.*366_*367insAA rs886058775
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.3(PDHB):c.*92C>A rs4228
NM_000925.3(PDHB):c.*99C>T rs7230
NM_000925.3(PDHB):c.-26G>A rs201243189
NM_000925.3(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.3(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.3(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.3(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.3(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000925.3(PDHB):c.435G>A (p.Arg145=) rs1438518070
NM_000925.3(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.3(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.3(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.3(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.3(PDHB):c.701-3C>T rs377063331
NM_000925.3(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.3(PDHB):c.793-19_793-14delGATTAT rs759146810
NM_000925.3(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile)
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057
NM_001005360.2(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008222.2(ZDHHC9):c.167+5G>C rs606231183
NM_001008222.2(ZDHHC9):c.172_175del (p.Arg58Thrfs) rs606231182
NM_001008222.2(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_001008222.2(ZDHHC9):c.448C>T (p.Pro150Ser) rs137852215
NM_001008222.2(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679
NM_001008537.2(NEXMIF):c.1121G>A (p.Gly374Glu)
NM_001008537.2(NEXMIF):c.1132A>G (p.Lys378Glu) rs61741844
NM_001008537.2(NEXMIF):c.1154G>A (p.Gly385Asp) rs375109305
NM_001008537.2(NEXMIF):c.1256A>G (p.Glu419Gly) rs1018310077
NM_001008537.2(NEXMIF):c.1328G>A (p.Ser443Asn)
NM_001008537.2(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807
NM_001008537.2(NEXMIF):c.1349A>T (p.Tyr450Phe)
NM_001008537.2(NEXMIF):c.1370A>G (p.Lys457Arg)
NM_001008537.2(NEXMIF):c.1376_1377del (p.Cys459Terfs) rs1057518730
NM_001008537.2(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.2(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.2(NEXMIF):c.1582delA (p.Arg528Glufs) rs727503977
NM_001008537.2(NEXMIF):c.1597del (p.Arg533Valfs) rs1556016632
NM_001008537.2(NEXMIF):c.16G>T (p.Asp6Tyr)
NM_001008537.2(NEXMIF):c.1716G>T (p.Glu572Asp) rs148005156
NM_001008537.2(NEXMIF):c.1757G>C (p.Gly586Ala)
NM_001008537.2(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.2(NEXMIF):c.183del (p.Arg62Glufs) rs397518479
NM_001008537.2(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.2(NEXMIF):c.1904G>C (p.Arg635Thr) rs766086192
NM_001008537.2(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.2(NEXMIF):c.2042del (p.Gly681Valfs) rs1556016555
NM_001008537.2(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157
NM_001008537.2(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597
NM_001008537.2(NEXMIF):c.2130G>A (p.Lys710=) rs749479992
NM_001008537.2(NEXMIF):c.2139G>A (p.Glu713=) rs139194076
NM_001008537.2(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047
NM_001008537.2(NEXMIF):c.2154T>C (p.Asn718=) rs61741739
NM_001008537.2(NEXMIF):c.2166_2168delTAAinsAC (p.Phe722Leufs) rs1556016529
NM_001008537.2(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608
NM_001008537.2(NEXMIF):c.2251delG (p.Glu751Lysfs)
NM_001008537.2(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126
NM_001008537.2(NEXMIF):c.2315G>A (p.Arg772His) rs142822527
NM_001008537.2(NEXMIF):c.2363T>C (p.Leu788Pro)
NM_001008537.2(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.2(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.2(NEXMIF):c.2504A>C (p.His835Pro) rs762983389
NM_001008537.2(NEXMIF):c.2508T>G (p.His836Gln)
NM_001008537.2(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.2(NEXMIF):c.2605T>C (p.Ser869Pro)
NM_001008537.2(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459
NM_001008537.2(NEXMIF):c.2673delC (p.Asn891Lysfs) rs1556016438
NM_001008537.2(NEXMIF):c.2772_2773insTTTC (p.Glu925Phefs) rs797045646
NM_001008537.2(NEXMIF):c.2795C>G (p.Thr932Arg) rs375607660
NM_001008537.2(NEXMIF):c.2801A>G (p.Asn934Ser) rs41306133
NM_001008537.2(NEXMIF):c.2888_2889delCT (p.Ser963Leufs)
NM_001008537.2(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.2(NEXMIF):c.2986A>G (p.Met996Val)
NM_001008537.2(NEXMIF):c.2999_3000delCT (p.Ser1000Cysfs) rs875989829
NM_001008537.2(NEXMIF):c.3011_3014delGTAA (p.Ser1004Ilefs) rs1556016381
NM_001008537.2(NEXMIF):c.3226delA (p.Thr1076Profs) rs1556016352
NM_001008537.2(NEXMIF):c.3230delC (p.Pro1077Leufs) rs1556016350
NM_001008537.2(NEXMIF):c.3334delA (p.Ile1112Serfs)
NM_001008537.2(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887
NM_001008537.2(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.2(NEXMIF):c.3378G>A (p.Glu1126=) rs770681599
NM_001008537.2(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001008537.2(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.2(NEXMIF):c.3574T>C (p.Ser1192Pro)
NM_001008537.2(NEXMIF):c.3595_3611delAAATCCCTCAAAGGTAA (p.Lys1199Glnfs) rs1556016292
NM_001008537.2(NEXMIF):c.3653A>G (p.Gln1218Arg)
NM_001008537.2(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001008537.2(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001008537.2(NEXMIF):c.3775G>A (p.Ala1259Thr)
NM_001008537.2(NEXMIF):c.3782G>C (p.Cys1261Ser) rs1339493509
NM_001008537.2(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175
NM_001008537.2(NEXMIF):c.3800delC (p.Pro1267Leufs)
NM_001008537.2(NEXMIF):c.3812T>C (p.Met1271Thr) rs138236888
NM_001008537.2(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.2(NEXMIF):c.4075dup (p.Ser1359Phefs) rs1556016224
NM_001008537.2(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942
NM_001008537.2(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001008537.2(NEXMIF):c.4248dupT (p.Gly1417Trpfs) rs1057518728
NM_001008537.2(NEXMIF):c.4289A>C (p.Lys1430Thr)
NM_001008537.2(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356
NM_001008537.2(NEXMIF):c.4368C>A (p.Ala1456=) rs781623230
NM_001008537.2(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.2(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725
NM_001008537.2(NEXMIF):c.563A>C (p.Asn188Thr) rs753449220
NM_001008537.2(NEXMIF):c.61A>G (p.Asn21Asp)
NM_001008537.2(NEXMIF):c.72A>G (p.Lys24=) rs200225698
NM_001008537.2(NEXMIF):c.855A>G (p.Leu285=) rs3762242
NM_001008537.2(NEXMIF):c.911G>T (p.Gly304Val)
NM_001008537.2(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.280dup (p.Ala94Glyfs)
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200Ilefs) rs397518478
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)
NM_001015877.1(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.1(PHF6):c.113delA (p.Lys38Argfs) rs1057519064
NM_001015877.1(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.1(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.1(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.1(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_001015877.1(PHF6):c.65C>A (p.Ser22Ter)
NM_001015877.1(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.1(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.1(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.1(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.1(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001018113.2(FANCB):c.*14T>C rs2375726
NM_001018113.2(FANCB):c.*33T>C rs187611308
NM_001018113.2(FANCB):c.*66T>G rs143434225
NM_001018113.2(FANCB):c.-173G>C rs2188383
NM_001018113.2(FANCB):c.-229T>G rs149617434
NM_001018113.2(FANCB):c.-230A>T rs1020271259
NM_001018113.2(FANCB):c.-232G>A rs756766337
NM_001018113.2(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.2(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.2(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.2(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.2(FANCB):c.1327-10T>C rs2905223
NM_001018113.2(FANCB):c.1327-3delT rs202067682
NM_001018113.2(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.2(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.2(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.2(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.2(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.2(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.2(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.2(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.2(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.2(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.2(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.2(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.2(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.2(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.2(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.2(FANCB):c.952-13C>T rs1057515807
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu) rs138133927
NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val) rs61729484
NM_001032382.1(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032383.1(PQBP1):c.461_462del (p.Glu154Alafs) rs606231193
NM_001032383.1(PQBP1):c.461_462dup (p.Arg155Serfs) rs606231193
NM_001032383.1(PQBP1):c.547_569del (p.Glu183Glnfs) rs606231197
NM_001032393.2(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_001037343.1(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001037343.1(CDKL5):c.2450_2457del (p.Pro818Valfs) rs1555954737
NM_001037343.1(CDKL5):c.394G>T (p.Val132Phe)
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) rs28935476
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) rs122461163
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) rs62626305
NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039590.2(USP9X):c.2644_2645insA (p.Arg882Glnfs) rs869025590
NM_001039590.2(USP9X):c.3028_3148del121 rs869025589
NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039590.2(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019
NM_001039590.2(USP9X):c.44delA (p.Asn15Thrfs) rs1555917927
NM_001039590.2(USP9X):c.4756delC (p.Ala1587Profs) rs1555930128
NM_001039590.2(USP9X):c.5047C>T (p.Gln1683Ter) rs1555932766
NM_001039590.2(USP9X):c.671T>C (p.Leu224Pro)
NM_001039591.2(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001042537.1(SLC9A6):c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.183del (p.Lys61Asnfs) rs587784398
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) rs587784399
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.603+3_603+4delAAinsCC rs730882187
NM_001042537.1(SLC9A6):c.608_609del (p.His203Leufs) rs730882188
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001042537.1(SLC9A6):c.882delT (p.Ala295Profs) rs1057519394
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258
NM_001042537.1:c.576_577delAT
NM_001042537:c.916delC
NM_001081550.1(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.1(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.1(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.1(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001081550.1(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.1(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.1(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.1(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.1(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.1(THOC2):c.3503+4A>C rs1556015437
NM_001081550.1(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.1(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.1(THOC2):c.4450-2A>G rs1556005930
NM_001081550.1(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)
NM_001097642.2(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_001097642.2(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_001097642.2(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_001097642.2(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_001097642.2(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_001097642.2(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001097642.2(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_001105243.1(PCDH19):c.1059_1062delTGAG (p.Glu354Leufs) rs796052828
NM_001105243.1(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001105243.1(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001105243.1(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001105243.1(PCDH19):c.2218C>T (p.Arg740Cys) rs376390125
NM_001105243.1(PCDH19):c.2258delA (p.Asn753Thrfs) rs796052836
NM_001105243.1(PCDH19):c.2328G>A (p.Leu776=) rs61744561
NM_001105243.1(PCDH19):c.2601A>G (p.Gln867=) rs61742914
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.2834C>A (p.Ala945Glu) rs371109150
NM_001105243.1(PCDH19):c.2877C>T (p.Asp959=) rs16983426
NM_001105243.1(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001105243.1(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.1429+8C>T rs202181557
NM_001110556.1(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.1(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.1(FLNA):c.2023-4C>G rs368719012
NM_001110556.1(FLNA):c.2023-6C>T rs372021340
NM_001110556.1(FLNA):c.2122C>T (p.Arg708Trp)
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3153dupC (p.Val1052Argfs) rs398123616
NM_001110556.1(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.1(FLNA):c.3476A>C (p.Asp1159Ala) rs28935471
NM_001110556.1(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.1(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.1(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4543C>T (p.Arg1515Ter) rs186214592
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.1(FLNA):c.5075_5092dup (p.Asp1697_Val1698insAspGlySerGluValAsp)
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.1(FLNA):c.5854delG (p.Val1952Serfs) rs797044724
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.1(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.1(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.1(FLNA):c.629G>T (p.Cys210Phe) rs137853318
NM_001110556.1(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.1(FLNA):c.7757-1G>C rs797044496
NM_001110556.1(FLNA):c.999_1008dup (p.Asp337Argfs) rs1557179357
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))
NM_001110792.1(MECP2):c.-27_-26delAG rs587783128
NM_001110792.1(MECP2):c.-27_-26delAGinsTT rs786205039
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) rs61751456
NM_001110792.1(MECP2):c.1043_1230del188 (p.Leu348Profs) rs1557135418
NM_001110792.1(MECP2):c.1049C>G (p.Thr350Ser) rs786204313
NM_001110792.1(MECP2):c.1064_1194del131 (p.Gly355Alafs) rs1557135728
NM_001110792.1(MECP2):c.1084_1235del152 (p.Ser362Glnfs) rs1557135350
NM_001110792.1(MECP2):c.1165_*568delinsCCGTGG rs1557134378
NM_001110792.1(MECP2):c.1188_*29del339 rs1557134779
NM_001110792.1(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.1(MECP2):c.1193_*116del421 rs1557134720
NM_001110792.1(MECP2):c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter) rs786205019
NM_001110792.1(MECP2):c.1200_1235del36insT (p.Pro401Glnfs) rs1557135346
NM_001110792.1(MECP2):c.1200_1243del44 (p.Pro401Terfs) rs61752992
NM_001110792.1(MECP2):c.1202_1203insC (p.Pro402Serfs) rs797044733
NM_001110792.1(MECP2):c.1444_1447delAACAinsTG (p.Asn482Trpfs) rs786205023
NM_001110792.1(MECP2):c.1490_1493delTTAG (p.Val497Alafs) rs267608640
NM_001110792.1(MECP2):c.15_23dup (p.Ala8_Pro9insAlaAlaAla) rs398123566
NM_001110792.1(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.1(MECP2):c.23_27dupCGCCG (p.Ser10Argfs) rs786205038
NM_001110792.1(MECP2):c.30_31del (p.Ser10Argfs) rs797045693
NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs) rs786205040
NM_001110792.1(MECP2):c.414-3C>T rs267608465
NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)
NM_001110792.1(MECP2):c.41_57dup (p.Arg20Glufs) rs1557150846
NM_001110792.1(MECP2):c.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly) rs587783744
NM_001110792.1(MECP2):c.445_1194del750 (p.Glu149_Leu398del) rs1557135739
NM_001110792.1(MECP2):c.47_57del11 (p.Gly16Glufs) rs786205042
NM_001110792.1(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.1(MECP2):c.48_55del8 (p.Glu18Thrfs) rs786205043
NM_001110792.1(MECP2):c.48_55dup (p.Glu19Alafs) rs786205043
NM_001110792.1(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.1(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.1(MECP2):c.59_60delGA (p.Arg20Thrfs) rs786205047
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.1(MECP2):c.62+1G>A rs786205048
NM_001110792.1(MECP2):c.62+2_62+3delTG rs786205049
NM_001110792.1(MECP2):c.647_648delCAinsAG (p.Ser216Ter) rs267608507
NM_001110792.1(MECP2):c.772_779delATGGTGATinsGTG (p.Met258Valfs) rs267608520
NM_001110792.1(MECP2):c.784_789delCGCCCCinsGGCCG (p.Arg262Glyfs) rs61750225
NM_001110792.1(MECP2):c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs) rs267608521
NM_001110792.1(MECP2):c.802_815dup (p.Asp272Glufs) rs267608524
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.1(MECP2):c.903_1259del357insA (p.Ser303Glnfs) rs1557135218
NM_001110792.1(MECP2):c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs) rs786205031
NM_001110792.1(MECP2):c.907_1080del174 (p.Ile305_Ser362del) rs1557136013
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.1(MECP2):c.934_1202del269 (p.Val312Serfs) rs1557135666
NM_001110792.1(MECP2):c.942_1174del233insAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.1(MECP2):c.991G>A (p.Val331Met)
NM_001110792.1(MECP2):c.998_1303del306insG (p.Lys333Serfs) rs1557135128
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.987dup (p.Glu330Glyfs)
NM_001122606.1(LAMP2):c.-26_-15dupGCCGTCGCCGCC rs1556124241
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001122606.1(LAMP2):c.14del (p.Arg5Profs)
NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_001122606.1(LAMP2):c.36_42del (p.Gly13Phefs)
NM_001122606.1(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_001122606.1(LAMP2):c.546_548delGAGinsTA (p.Ser183Thrfs) rs1060502302
NM_001122606.1(LAMP2):c.883dup (p.Tyr295Leufs)
NM_001122606.1(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_001123383.1(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123383.1(BCOR):c.3388dup (p.Leu1130Profs) rs1555915785
NM_001123383.1(BCOR):c.4072-1G>T
NM_001123384.1(BCOR):c.3383_3391del (p.Glu1128_Thr1130del) rs1555915744
NM_001123385.1(BCOR):c.1260_1261invTG (p.Gly421Ser)
NM_001123385.1(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.1(BCOR):c.3268delG (p.Asp1090Ilefs) rs1555915854
NM_001123385.1(BCOR):c.4304_4308del (p.Pro1435Leufs) rs730880034
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001128834.2(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_001128834.2(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_001128834.2(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_001128834.2(PLP1):c.384_393delCCAACATCAA (p.Gln129Leufs) rs1556267215
NM_001128834.2(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_001128834.2(PLP1):c.453+4A>G
NM_001128834.2(PLP1):c.467C>T (p.Thr156Ile) rs132630280
NM_001128834.2(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_001128834.2(PLP1):c.544A>C (p.Thr182Pro) rs132630282
NM_001128834.2(PLP1):c.607G>C (p.Asp203His) rs132630284
NM_001128834.2(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_001128834.2(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_001128834.2(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_001128834.2(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_001128834.2(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_001128834.2(PLP1):c.762+3G>T
NM_001135024.1(PDHX):c.88delT (p.Ser30Profs)
NM_001136024.3(NHS):c.163C>T (p.Gln55Ter) rs875989805
NM_001142386.2(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.2(PDK3):c.1126G>A (p.Ala376Thr)
NM_001142386.2(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.2(PDK3):c.160C>T (p.Pro54Ser)
NM_001142386.2(PDK3):c.249-8C>T rs1231289510
NM_001142386.2(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.2(PDK3):c.320+6T>C rs748960946
NM_001142386.2(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.2(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.2(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001142386.2(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.2(PDK3):c.597delT (p.Asp199Glufs)
NM_001142386.2(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.2(PDK3):c.751-10A>G rs372774822
NM_001142386.2(PDK3):c.798C>A (p.Gly266=) rs1250656724
NM_001145408.1(NONO):c.1093C>T (p.Arg365Ter) rs869025345
NM_001145408.1(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_001145408.1(NONO):c.1171+1G>T rs876661316
NM_001145408.1(NONO):c.1171G>T (p.Gly391Cys) rs1114167441
NM_001145408.1(NONO):c.1394dupC (p.Asn466Lysfs) rs869025344
NM_001146702.1(KDM5C):c.3241G>A (p.Val1081Met) rs782205045
NM_001160036.1(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001164617.1(GPC3):c.1563C>A (p.Cys521Ter)
NM_001164803.1(RBMX):c.217-1078T>C rs181515589
NM_001169122.1(AFF2):c.-460_-458GCC(6_25) rs193922937
NM_001169124.1(AFF2):c.*4554C>G rs864321652
NM_001173454.1(PDHA1):c.1247G>A (p.Arg416His) rs137853250
NM_001173454.1(PDHA1):c.863C>T (p.Pro288Leu)
NM_001173455.1(PDHA1):c.448G>A (p.Gly150Arg) rs1057518695
NM_001173456.1(PDHA1):c.695_696del (p.Glu233Glyfs)
NM_001173479.1(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001173480.1(ARHGEF9):c.593G>A (p.Trp198Ter) rs1556358991
NM_001178032.2(ZC4H2):c.309_311del (p.Glu105del) rs750367160
NM_001184.3(ATR):c.3152G>A (p.Arg1051His)
NM_001184880.1(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.1(PCDH19):c.1091dupC (p.Tyr366Leufs) rs758946412
NM_001184880.1(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.1(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.1(PCDH19):c.1121_1122delCT (p.Ser374Terfs)
NM_001184880.1(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.1(PCDH19):c.1142A>G (p.Asn381Ser)
NM_001184880.1(PCDH19):c.1148G>A (p.Arg383His)
NM_001184880.1(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.1(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.1(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.1(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.1(PCDH19):c.1292C>G (p.Pro431Arg)
NM_001184880.1(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.1(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.1(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.1(PCDH19):c.1342G>T (p.Asp448Tyr)
NM_001184880.1(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.1(PCDH19):c.1355A>G (p.His452Arg)
NM_001184880.1(PCDH19):c.138_139delGCinsTT (p.Arg47Ter) rs1555985820
NM_001184880.1(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.1(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.1(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.1(PCDH19):c.1442_1448delACCTGGG (p.Asp481Valfs) rs1555985163
NM_001184880.1(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.1(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.1(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.1(PCDH19):c.1521dup (p.Ile508Hisfs) rs1131691646
NM_001184880.1(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.1(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.1(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.1(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.1(PCDH19):c.1676delA (p.Asn559Thrfs)
NM_001184880.1(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.1(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.1(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.1(PCDH19):c.1853_1857delACCAGinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu)
NM_001184880.1(PCDH19):c.1854C>G (p.Asp618Glu)
NM_001184880.1(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.1(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.1(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.1(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.1(PCDH19):c.2030dup (p.Leu677Phefs)
NM_001184880.1(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.1(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.1(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.1(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.1(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.1(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.1(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.1(PCDH19):c.2308G>C (p.Gly770Arg)
NM_001184880.1(PCDH19):c.2341delA (p.Ile781Serfs) rs1060502175
NM_001184880.1(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.1(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.1(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.1(PCDH19):c.242T>G (p.Leu81Arg)
NM_001184880.1(PCDH19):c.2453delA (p.Gln818Argfs) rs1555984453
NM_001184880.1(PCDH19):c.2479C>G (p.Arg827Gly)
NM_001184880.1(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.1(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.1(PCDH19):c.2657G>A (p.Arg886Gln)
NM_001184880.1(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.1(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.1(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.1(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.1(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.1(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.1(PCDH19):c.3021C>G (p.Asp1007Glu)
NM_001184880.1(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.1(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.1(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.1(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.1(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.1(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.1(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3299A>G (p.Asn1100Ser)
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.3341G>C (p.Arg1114Pro)
NM_001184880.1(PCDH19):c.3370G>C (p.Glu1124Gln)
NM_001184880.1(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.1(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.1(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.1(PCDH19):c.457_458delGCinsAT (p.Ala153Ile) rs863224907
NM_001184880.1(PCDH19):c.489_490delGCinsAT (p.Gln164Ter) rs1555985639
NM_001184880.1(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.1(PCDH19):c.528G>T (p.Leu176=)
NM_001184880.1(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.1(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.1(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.1(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.1(PCDH19):c.58G>C (p.Ala20Pro)
NM_001184880.1(PCDH19):c.619delC (p.Arg207Glufs) rs1555985543
NM_001184880.1(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.1(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.1(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.1(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.1(PCDH19):c.707C>T (p.Pro236Leu)
NM_001184880.1(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.1(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.1(PCDH19):c.792T>G (p.Asp264Glu)
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.1(PCDH19):c.827_829delCCT (p.Ser276del)
NM_001184880.1(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.1(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.1(PCDH19):c.875_879dup (p.His294Thrfs) rs1555985416
NM_001184880.1(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.1(PCDH19):c.918C>G (p.Tyr306Ter)
NM_001184880.1(PCDH19):c.919G>A (p.Glu307Lys)
NM_001184880.1(PCDH19):c.91G>A (p.Glu31Lys)
NM_001184880.1(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001184880.1:c.971delA
NM_001184880.2(PCDH19):c.1679del (p.Pro561Argfs)
NM_001184896.1(PHF8):c.49C>T (p.Pro17Ser) rs1557116325
NM_001184898.1(PHF8):c.2207G>A (p.Arg736Gln) rs1263803925
NM_001193416.1(DDX3X):c.255delC (p.Phe85Leufs) rs1131691299
NM_001193416.2(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001193416.2(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001193416.2(DDX3X):c.1804C>T (p.Arg602Ter) rs886041705
NM_001193416.2(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001193416.3(DDX3X):c.1171-1G>C
NM_001193417.2(DDX3X):c.529G>T (p.Gly177Ter) rs875989803
NM_001193417.2(DDX3X):c.856G>A (p.Gly286Ser) rs875989802
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001256743.1(GRIA3):c.380dupG (p.Gly128Trpfs) rs778944548
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_001270888.1(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_001270888.1(SLC25A10):c.[684C>T;790-37G>A]
NM_001278116.1(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.1(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991
NM_001289.5(CLIC2):c.303C>G (p.His101Gln) rs398122917
NM_001323289.1(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.1(CDKL5):c.2828_2829delGA (p.Arg943Asnfs) rs1555955290
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.4(DDX3X):c.1099dup (p.Gln367Profs) rs1555953819
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr)
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.4(DDX3X):c.192dup (p.Asp65Argfs) rs1057519431
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001356.4(DDX3X):c.58G>T (p.Asp20Tyr)
NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001356.4(DDX3X):c.770dup (p.Asn257Lysfs) rs1555953398
NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001415.3(EIF2S3):c.1394_1397delTCAA (p.Ile465Serfs) rs886040857
NM_001415.3(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.3(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001415.3(EIF2S3):c.665T>C (p.Ile222Thr) rs886040855
NM_001415.3(EIF2S3):c.777T>G (p.Ile259Met) rs886040856
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001456.3(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.125A>G (p.Lys42Arg)
NM_001456.3(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001456.3(FLNA):c.1309C>T (p.Arg437Trp)
NM_001456.3(FLNA):c.1319G>C (p.Ser440Thr)
NM_001456.3(FLNA):c.1356C>T (p.Gly452=) rs782437864
NM_001456.3(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001456.3(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001456.3(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001456.3(FLNA):c.1438C>T (p.Pro480Ser)
NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001456.3(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001456.3(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001456.3(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001456.3(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1581C>T (p.Arg527=) rs782684339
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001456.3(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001456.3(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001456.3(FLNA):c.168C>G (p.His56Gln)
NM_001456.3(FLNA):c.1691+7C>A rs199565118
NM_001456.3(FLNA):c.1693C>T (p.Pro565Ser)
NM_001456.3(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001456.3(FLNA):c.1761G>A (p.Glu587=) rs377261686
NM_001456.3(FLNA):c.1767C>T (p.Gly589=) rs371909600
NM_001456.3(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001456.3(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001456.3(FLNA):c.1824G>A (p.Thr608=) rs782114616
NM_001456.3(FLNA):c.1828+3A>G rs368041880
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001456.3(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001456.3(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001456.3(FLNA):c.1938C>T (p.His646=) rs369037499
NM_001456.3(FLNA):c.1958A>G (p.Asp653Gly)
NM_001456.3(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.196A>T (p.Asn66Tyr)
NM_001456.3(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001456.3(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001456.3(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001456.3(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001456.3(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001456.3(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001456.3(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001456.3(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001456.3(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001456.3(FLNA):c.2254_2268delGTCAGCATCCCCAACinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001456.3(FLNA):c.2309A>G (p.Asn770Ser) rs1557178374
NM_001456.3(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001456.3(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001456.3(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001456.3(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001456.3(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001456.3(FLNA):c.2405-4G>A rs368187218
NM_001456.3(FLNA):c.2410G>A (p.Val804Ile) rs374130804
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.2466C>T (p.Ile822=) rs878854461
NM_001456.3(FLNA):c.2483G>A (p.Arg828His)
NM_001456.3(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001456.3(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001456.3(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001456.3(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001456.3(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001456.3(FLNA):c.2565+1G>A
NM_001456.3(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001456.3(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001456.3(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001456.3(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001456.3(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001456.3(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001456.3(FLNA):c.2826+4G>A rs1037180469
NM_001456.3(FLNA):c.2831C>T (p.Pro944Leu)
NM_001456.3(FLNA):c.2839G>A (p.Val947Ile)
NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001456.3(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001456.3(FLNA):c.2974A>G (p.Thr992Ala)
NM_001456.3(FLNA):c.2982A>G (p.Lys994=) rs782056982
NM_001456.3(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001456.3(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001456.3(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001456.3(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001456.3(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001456.3(FLNA):c.3246G>A (p.Ala1082=) rs373036085
NM_001456.3(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001456.3(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001456.3(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001456.3(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001456.3(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001456.3(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001456.3(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
NM_001456.3(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001456.3(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001456.3(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001456.3(FLNA):c.34G>T (p.Ala12Ser)
NM_001456.3(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001456.3(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001456.3(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001456.3(FLNA):c.3602C>T (p.Ala1201Val)
NM_001456.3(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001456.3(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001456.3(FLNA):c.3647C>T (p.Thr1216Met)
NM_001456.3(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001456.3(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001456.3(FLNA):c.373+10G>A rs368292402
NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001456.3(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001456.3(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001456.3(FLNA):c.3814delC (p.Arg1272Valfs) rs1557177636
NM_001456.3(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001456.3(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001456.3(FLNA):c.3865G>T (p.Gly1289Ter)
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3909C>T (p.Asn1303=) rs1060504018
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001456.3(FLNA):c.3940G>A (p.Asp1314Asn)
NM_001456.3(FLNA):c.3979+5G>A
NM_001456.3(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001456.3(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001456.3(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001456.3(FLNA):c.4018G>A (p.Val1340Met)
NM_001456.3(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001456.3(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001456.3(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001456.3(FLNA):c.410T>A (p.Ile137Asn)
NM_001456.3(FLNA):c.4143-1G>T rs1557177485
NM_001456.3(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001456.3(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001456.3(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001456.3(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001456.3(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001456.3(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001456.3(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001456.3(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001456.3(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001456.3(FLNA):c.4452G>C (p.Gln1484His)
NM_001456.3(FLNA):c.4475-4C>T rs199652065
NM_001456.3(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001456.3(FLNA):c.4499T>C (p.Val1500Ala)
NM_001456.3(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001456.3(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001456.3(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001456.3(FLNA):c.4596_4598+5del rs1557177279
NM_001456.3(FLNA):c.4598+8G>C rs112379782
NM_001456.3(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001456.3(FLNA):c.4659C>T (p.Pro1553=) rs375163471
NM_001456.3(FLNA):c.4696G>A (p.Val1566Met)
NM_001456.3(FLNA):c.4721_4732delACGCCGGGGAGG (p.Asp1574_Glu1577del) rs1557177229
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.4755+5G>A rs199803218
NM_001456.3(FLNA):c.4825G>A (p.Val1609Met)
NM_001456.3(FLNA):c.4840_4852delGGTCGCTACACCA (p.Gly1614Serfs) rs1557177086
NM_001456.3(FLNA):c.487G>A (p.Ala163Thr)
NM_001456.3(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001456.3(FLNA):c.4917C>T (p.Thr1639=) rs370608721
NM_001456.3(FLNA):c.4945+3G>A rs372673802
NM_001456.3(FLNA):c.5009C>T (p.Ala1670Val)
NM_001456.3(FLNA):c.5035A>G (p.Thr1679Ala)
NM_001456.3(FLNA):c.5074G>A (p.Val1692Met)
NM_001456.3(FLNA):c.5100C>T (p.Phe1700=) rs368399445
NM_001456.3(FLNA):c.5136C>T (p.Tyr1712=) rs782152127
NM_001456.3(FLNA):c.5169G>A (p.Val1723=) rs201458268
NM_001456.3(FLNA):c.5194-4G>A rs370196495
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5289+4C>T rs377330443
NM_001456.3(FLNA):c.5318A>G (p.Asn1773Ser) rs373089783
NM_001456.3(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001456.3(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001456.3(FLNA):c.5451C>T (p.Asp1817=) rs1057521451
NM_001456.3(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001456.3(FLNA):c.5567A>G (p.Asn1856Ser) rs782095418
NM_001456.3(FLNA):c.5586C>T (p.Ala1862=) rs782040591
NM_001456.3(FLNA):c.5592G>C (p.Gly1864=) rs782204300
NM_001456.3(FLNA):c.5619delC (p.Asn1873Lysfs)
NM_001456.3(FLNA):c.5634C>T (p.Phe1878=) rs182894587
NM_001456.3(FLNA):c.5662+1G>C rs1557176315
NM_001456.3(FLNA):c.5686G>A (p.Gly1896Ser) rs782549964
NM_001456.3(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001456.3(FLNA):c.5762C>T (p.Pro1921Leu)
NM_001456.3(FLNA):c.5763G>A (p.Pro1921=) rs376974488
NM_001456.3(FLNA):c.5790C>T (p.Tyr1930=) rs140084263
NM_001456.3(FLNA):c.5837-9C>T rs782153045
NM_001456.3(FLNA):c.5887A>T (p.Ile1963Phe) rs190712778
NM_001456.3(FLNA):c.5927C>T (p.Thr1976Met) rs782639698
NM_001456.3(FLNA):c.5928G>A (p.Thr1976=) rs782618234
NM_001456.3(FLNA):c.5943G>A (p.Pro1981=) rs372351673
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.5954G>C (p.Arg1985Pro)
NM_001456.3(FLNA):c.5964_5965delCT (p.Cys1989Phefs) rs1060500718
NM_001456.3(FLNA):c.5999-10C>G rs72616474
NM_001456.3(FLNA):c.6023C>T (p.Thr2008Met) rs781946802
NM_001456.3(FLNA):c.6083C>T (p.Pro2028Leu) rs1557176131
NM_001456.3(FLNA):c.6193C>T (p.Arg2065Cys) rs782069230
NM_001456.3(FLNA):c.6195C>T (p.Arg2065=) rs782365685
NM_001456.3(FLNA):c.6196G>A (p.Asp2066Asn) rs371611462
NM_001456.3(FLNA):c.622+10C>T rs781889769
NM_001456.3(FLNA):c.6244G>C (p.Val2082Leu) rs968230475
NM_001456.3(FLNA):c.6245T>C (p.Val2082Ala)
NM_001456.3(FLNA):c.6283A>G (p.Arg2095Gly) rs370277156
NM_001456.3(FLNA):c.6296G>C (p.Cys2099Ser) rs1557176052
NM_001456.3(FLNA):c.6297C>T (p.Cys2099=) rs1060504017
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) rs375205247
NM_001456.3(FLNA):c.6352C>T (p.Pro2118Ser) rs782400832
NM_001456.3(FLNA):c.6370G>A (p.Val2124Met) rs201396725
NM_001456.3(FLNA):c.6384C>A (p.Gly2128=) rs1004981975
NM_001456.3(FLNA):c.6391C>T (p.Arg2131Trp) rs782761341
NM_001456.3(FLNA):c.6479-8C>T rs1288120261
NM_001456.3(FLNA):c.6479-9A>G rs781919390
NM_001456.3(FLNA):c.6516C>T (p.Ser2172=) rs781992483
NM_001456.3(FLNA):c.6540C>G (p.Ala2180=) rs782053327
NM_001456.3(FLNA):c.6541G>A (p.Glu2181Lys)
NM_001456.3(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.6695A>G (p.Lys2232Arg) rs797045581
NM_001456.3(FLNA):c.6701G>A (p.Arg2234Gln) rs781984274
NM_001456.3(FLNA):c.6704C>G (p.Ala2235Gly) rs953454766
NM_001456.3(FLNA):c.6752T>C (p.Phe2251Ser)
NM_001456.3(FLNA):c.676C>T (p.Arg226Ter)
NM_001456.3(FLNA):c.6839G>A (p.Arg2280His) rs782275601
NM_001456.3(FLNA):c.6851C>T (p.Ser2284Phe) rs1557175878
NM_001456.3(FLNA):c.6867T>C (p.Tyr2289=) rs1557175875
NM_001456.3(FLNA):c.6870G>C (p.Val2290=) rs878854462
NM_001456.3(FLNA):c.6927C>T (p.Pro2309=) rs782356784
NM_001456.3(FLNA):c.6949G>A (p.Val2317Met) rs1557175818
NM_001456.3(FLNA):c.6960G>A (p.Pro2320=) rs374786760
NM_001456.3(FLNA):c.6969C>T (p.Asp2323=) rs201153928
NM_001456.3(FLNA):c.6999+10C>T rs782777494
NM_001456.3(FLNA):c.7019A>G (p.Asn2340Ser) rs1557175657
NM_001456.3(FLNA):c.7031C>T (p.Ser2344Phe) rs1557175646
NM_001456.3(FLNA):c.7035T>G (p.Phe2345Leu) rs864622713
NM_001456.3(FLNA):c.7068C>A (p.Ile2356=) rs782591917
NM_001456.3(FLNA):c.7133A>G (p.Asp2378Gly)
NM_001456.3(FLNA):c.7140T>C (p.Tyr2380=) rs1557175472
NM_001456.3(FLNA):c.7143T>G (p.Ala2381=) rs782541746
NM_001456.3(FLNA):c.7148G>A (p.Arg2383His) rs727503930
NM_001456.3(FLNA):c.714C>G (p.Ile238Met)
NM_001456.3(FLNA):c.7171G>A (p.Val2391Ile) rs878854463
NM_001456.3(FLNA):c.7181T>C (p.Ile2394Thr) rs202152952
NM_001456.3(FLNA):c.7186G>A (p.Val2396Ile)
NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) rs782129907
NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) rs201168500
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7235T>C (p.Val2412Ala) rs782289803
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.7251T>C (p.His2417=) rs781857682
NM_001456.3(FLNA):c.7281C>T (p.Tyr2427=) rs782750091
NM_001456.3(FLNA):c.7302T>C (p.Gly2434=) rs1026564714
NM_001456.3(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001456.3(FLNA):c.7338G>A (p.Thr2446=) rs369179210
NM_001456.3(FLNA):c.7341C>G (p.Ser2447Arg) rs199677057
NM_001456.3(FLNA):c.7364C>T (p.Ser2455Leu)
NM_001456.3(FLNA):c.7365G>A (p.Ser2455=) rs373103712
NM_001456.3(FLNA):c.7370C>T (p.Thr2457Ile) rs878854464
NM_001456.3(FLNA):c.7410G>A (p.Glu2470=) rs74667788
NM_001456.3(FLNA):c.7426C>T (p.Arg2476Cys) rs782557713
NM_001456.3(FLNA):c.7439C>A (p.Thr2480Asn) rs909387820
NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) rs200195310
NM_001456.3(FLNA):c.7520A>G (p.Lys2507Arg) rs782442409
NM_001456.3(FLNA):c.7527_7528+6delAGGTGAGC rs398123623
NM_001456.3(FLNA):c.7531C>T (p.Pro2511Ser) rs782383611
NM_001456.3(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001456.3(FLNA):c.7544G>A (p.Ser2515Asn) rs782555930
NM_001456.3(FLNA):c.7572A>G (p.Ser2524=) rs200694807
NM_001456.3(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001456.3(FLNA):c.7604G>A (p.Cys2535Tyr) rs201762017
NM_001456.3(FLNA):c.7625C>T (p.Pro2542Leu) rs371724771
NM_001456.3(FLNA):c.7631C>T (p.Pro2544Leu) rs1334045176
NM_001456.3(FLNA):c.7636C>A (p.Pro2546Thr) rs1060500720
NM_001456.3(FLNA):c.7662C>T (p.Ala2554=) rs76337075
NM_001456.3(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001456.3(FLNA):c.7714G>A (p.Val2572Ile) rs377518545
NM_001456.3(FLNA):c.7732+8A>G rs201663443
NM_001456.3(FLNA):c.7755_7756insTTCGGGG (p.Val2586Phefs) rs1557175195
NM_001456.3(FLNA):c.7778G>A (p.Cys2593Tyr) rs1060500721
NM_001456.3(FLNA):c.7793_7796delTGAA (p.Val2598Glyfs) rs1557175175
NM_001456.3(FLNA):c.7798C>T (p.His2600Tyr) rs781993962
NM_001456.3(FLNA):c.77C>T (p.Ala26Val)
NM_001456.3(FLNA):c.7876G>C (p.Asp2626His) rs782341270
NM_001456.3(FLNA):c.7895G>T (p.Ser2632Ile) rs1557175110
NM_001456.3(FLNA):c.7903C>T (p.Arg2635Cys) rs200836471
NM_001456.3(FLNA):c.7908_7910delTGT (p.Val2638del) rs1060500715
NM_001456.3(FLNA):c.826C>T (p.Arg276Trp)
NM_001456.3(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001456.3(FLNA):c.869-7C>T rs143311779
NM_001456.3(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001456.3(FLNA):c.897G>A (p.Lys299=) rs782195984
NM_001456.3(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001456.3(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001456.3(FLNA):c.933T>G (p.Ala311=) rs782592312
NM_001456.3(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001456.3(FLNA):c.959T>G (p.Val320Gly)
NM_001866.2(COX7B):c.196del (p.Leu66Cysfs) rs397514583
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) rs397514585
NM_001866.3(COX7B):c.41-2A>G rs397514584
NM_001931.4(DLAT):c.*1109C>T rs75608010
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.4(DLAT):c.*1248G>C rs9822
NM_001931.4(DLAT):c.*1318A>G rs757760280
NM_001931.4(DLAT):c.*1375T>C rs144371275
NM_001931.4(DLAT):c.*1595G>A rs184244244
NM_001931.4(DLAT):c.*168G>A rs77304693
NM_001931.4(DLAT):c.*1704A>G rs886047698
NM_001931.4(DLAT):c.*220T>C rs886047695
NM_001931.4(DLAT):c.*243T>C rs189254124
NM_001931.4(DLAT):c.*246A>G rs886047696
NM_001931.4(DLAT):c.*419A>G rs9371
NM_001931.4(DLAT):c.*622C>A rs139429714
NM_001931.4(DLAT):c.*873T>C rs73568056
NM_001931.4(DLAT):c.*920A>G rs116895022
NM_001931.4(DLAT):c.*96C>A rs534753
NM_001931.4(DLAT):c.*981G>A rs886047697
NM_001931.4(DLAT):c.-137G>A rs886047692
NM_001931.4(DLAT):c.-156C>G rs115067052
NM_001931.4(DLAT):c.-157G>A rs587688778
NM_001931.4(DLAT):c.-203C>T rs781987834
NM_001931.4(DLAT):c.-212C>G rs587656558
NM_001931.4(DLAT):c.-222C>T rs587750751
NM_001931.4(DLAT):c.-338T>C rs587698124
NM_001931.4(DLAT):c.-383T>A rs886047691
NM_001931.4(DLAT):c.-471C>T rs886047690
NM_001931.4(DLAT):c.-500C>T rs886047689
NM_001931.4(DLAT):c.-572G>A rs183456915
NM_001931.4(DLAT):c.-590G>A rs587721916
NM_001931.4(DLAT):c.-598C>T rs78298568
NM_001931.4(DLAT):c.-637G>A rs114863504
NM_001931.4(DLAT):c.-647C>A rs190887558
NM_001931.4(DLAT):c.-90G>C rs587665696
NM_001931.4(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.4(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.4(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.4(DLAT):c.1290+5G>A rs886047694
NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.4(DLAT):c.1399-13C>T rs374698306
NM_001931.4(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.4(DLAT):c.1692G>A (p.Thr564=) rs185907405
NM_001931.4(DLAT):c.1728C>A (p.Phe576Leu) rs119103240
NM_001931.4(DLAT):c.1735A>G (p.Ile579Val) rs371341957
NM_001931.4(DLAT):c.210G>C (p.Arg70=) rs782739576
NM_001931.4(DLAT):c.318C>A (p.Gly106=) rs201070254
NM_001931.4(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.4(DLAT):c.396dup (p.Ala133Serfs)
NM_001931.4(DLAT):c.402T>C (p.Thr134=) rs886047693
NM_001931.4(DLAT):c.412G>T (p.Glu138Ter)
NM_001931.4(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.4(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.4(DLAT):c.506+11C>T rs77846695
NM_001931.4(DLAT):c.506+12G>A rs372355218
NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.4(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.4(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.4(DLAT):c.606G>A (p.Ser202=) rs148153443
NM_001931.4(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.4(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.4(DLAT):c.828G>T (p.Leu276=) rs199835215
NM_001931.4(DLAT):c.848_849del (p.Asp283Glyfs) rs782704553
NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.4(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001931.4(DLAT):c.974C>T (p.Pro325Leu) rs782527135
NM_001931.4(DLAT):c.991C>G (p.Pro331Ala) rs78320677
NM_002024.5(FMR1):c.-128GGC[>200]
NM_002024.5(FMR1):c.-128_-126(200) rs193922936
NM_002024.5(FMR1):c.373del (p.Thr125Leufs)
NM_002024.5(FMR1):c.52-1_52delinsTA rs1557176576
NM_002024.5(FMR1):c.80C>A (p.Ser27Ter)
NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) rs121434622
NM_002025.3(AFF2):c.1830G>C (p.Leu610Phe) rs200450195
NM_002291.2(LAMB1):c.5225-7C>T rs3213673
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.*1071G>T rs2285548
NM_002294.2(LAMP2):c.*1096T>C rs5957382
NM_002294.2(LAMP2):c.*1191A>T rs1004327482
NM_002294.2(LAMP2):c.*1314T>C rs5957381
NM_002294.2(LAMP2):c.*1356C>G rs188897063
NM_002294.2(LAMP2):c.*1589A>G rs73612906
NM_002294.2(LAMP2):c.*1617C>T rs141881232
NM_002294.2(LAMP2):c.*1632A>G rs755434692
NM_002294.2(LAMP2):c.*1672C>T rs1024440041
NM_002294.2(LAMP2):c.*1701dupT rs373005118
NM_002294.2(LAMP2):c.*2005C>G rs200014321
NM_002294.2(LAMP2):c.*205C>T rs41300191
NM_002294.2(LAMP2):c.*2148A>G rs756504749
NM_002294.2(LAMP2):c.*2158_*2161dupATAT rs753399289
NM_002294.2(LAMP2):c.*2160_*2161dupAT rs753399289
NM_002294.2(LAMP2):c.*2162G>A rs767123866
NM_002294.2(LAMP2):c.*2183T>C rs765214315
NM_002294.2(LAMP2):c.*2195T>C rs13441024
NM_002294.2(LAMP2):c.*2261A>G rs12395643
NM_002294.2(LAMP2):c.*2395A>G rs10127185
NM_002294.2(LAMP2):c.*2460A>G rs10127182
NM_002294.2(LAMP2):c.*2524T>C rs150119198
NM_002294.2(LAMP2):c.*2538A>C rs1057515739
NM_002294.2(LAMP2):c.*2736T>A rs1057515738
NM_002294.2(LAMP2):c.*2746A>G rs3827478
NM_002294.2(LAMP2):c.*297A>C rs8160
NM_002294.2(LAMP2):c.*3031dupT rs113549733
NM_002294.2(LAMP2):c.*3248G>A rs5957380
NM_002294.2(LAMP2):c.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
NM_002294.2(LAMP2):c.*33A>G rs745798436
NM_002294.2(LAMP2):c.*3468_*3470delGTT rs199705754
NM_002294.2(LAMP2):c.*3677C>A rs1057515737
NM_002294.2(LAMP2):c.*3687T>C rs185627568
NM_002294.2(LAMP2):c.*3689T>C rs975386272
NM_002294.2(LAMP2):c.*4562A>G rs142200759
NM_002294.2(LAMP2):c.*4579A>G rs42885
NM_002294.2(LAMP2):c.*4671C>T rs1045953
NM_002294.2(LAMP2):c.*4763A>T rs761928368
NM_002294.2(LAMP2):c.*477T>C rs750939378
NM_002294.2(LAMP2):c.*4858A>G rs943561186
NM_002294.2(LAMP2):c.*486A>G rs5957383
NM_002294.2(LAMP2):c.*4961A>G rs765371462
NM_002294.2(LAMP2):c.*4963delG rs754879365
NM_002294.2(LAMP2):c.*5038A>G rs2748
NM_002294.2(LAMP2):c.*5048A>T rs113285013
NM_002294.2(LAMP2):c.*5172A>G rs778592348
NM_002294.2(LAMP2):c.*586A>G rs41312757
NM_002294.2(LAMP2):c.*653A>G rs1057515744
NM_002294.2(LAMP2):c.*692G>A rs1057515743
NM_002294.2(LAMP2):c.*721A>C rs887326511
NM_002294.2(LAMP2):c.*853G>A rs763861761
NM_002294.2(LAMP2):c.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-168dupC rs760941179
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.2(LAMP2):c.1020delT (p.Gly341Glufs) rs727504597
NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.1093+2450G>A rs149783672
NM_002294.2(LAMP2):c.1093+2478A>G rs140936359
NM_002294.2(LAMP2):c.1093+2485T>C rs1301008847
NM_002294.2(LAMP2):c.1093+2544A>G rs777128122
NM_002294.2(LAMP2):c.1126C>A (p.Leu376Ile)
NM_002294.2(LAMP2):c.1140G>A (p.Ala380=) rs1029569080
NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.2(LAMP2):c.1191T>C (p.Phe397=) rs752231323
NM_002294.2(LAMP2):c.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.2(LAMP2):c.121delT (p.Cys41Alafs) rs727504600
NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs) rs730880344
NM_002294.2(LAMP2):c.137G>A (p.Trp46Ter)
NM_002294.2(LAMP2):c.138G>A (p.Trp46Ter)
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.156_157delACinsTT (p.Arg53Cys) rs1556114013
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.191delT (p.Val64Glufs) rs397516738
NM_002294.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_002294.2(LAMP2):c.217_218insA (p.Thr73Asnfs) rs397516739
NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_002294.2(LAMP2):c.263T>C (p.Ile88Thr)
NM_002294.2(LAMP2):c.264A>T (p.Ile88=) rs779524035
NM_002294.2(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_002294.2(LAMP2):c.415_469dup (p.Ser157Terfs)
NM_002294.2(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.2(LAMP2):c.443A>G (p.Asn148Ser)
NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs) rs193922649
NM_002294.2(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.2(LAMP2):c.504C>T (p.Tyr168=) rs150520869
NM_002294.2(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_002294.2(LAMP2):c.581C>A (p.Thr194Asn)
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.588_589insCAACA (p.Val197Glnfs) rs730880492
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.65-2A>G rs397516743
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_002294.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_002294.2(LAMP2):c.741+1G>A
NM_002294.2(LAMP2):c.742-10_742-8delTCT rs730880476
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_002294.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_002294.2(LAMP2):c.788delG (p.Gly263Alafs) rs1060502303
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.2(LAMP2):c.815T>G (p.Leu272Arg)
NM_002294.2(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.2(LAMP2):c.843T>G (p.Tyr281Ter)
NM_002294.2(LAMP2):c.851_852delTT (p.Phe284Cysfs) rs727504648
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.864+5G>C
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.865-8delT rs746330494
NM_002294.2(LAMP2):c.865-8dupT rs746330494
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.929-5T>C rs375341409
NM_002294.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.2(LAMP2):c.973dupC (p.Leu325Profs) rs1556092459
NM_002294.2(LAMP2):c.980G>T (p.Ser327Ile)
NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs) rs727504557
NM_002294.2:c.(?_929)_(1233_?)del
NM_002294.2:c.190_191del
NM_002488.4(NDUFA2):c.-136A>G rs778594
NM_002488.4(NDUFA2):c.-145T>A rs886060017
NM_002488.4(NDUFA2):c.-48A>G rs778593
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.4(NDUFA2):c.-53A>G rs747127939
NM_002488.4(NDUFA2):c.-63G>A rs748460855
NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) rs200255683
NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416
NM_002495.2(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.2(NDUFS4):c.291delG (p.Trp97Terfs) rs121908985
NM_002495.3(NDUFS4):c.*46G>A rs567
NM_002495.3(NDUFS4):c.*79A>G rs886060699
NM_002495.3(NDUFS4):c.-22C>A rs144843461
NM_002495.3(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.3(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.3(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.3(NDUFS4):c.178-4G>C rs200384843
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT rs375549253
NM_002495.3(NDUFS4):c.355G>C (p.Asp119His)
NM_002495.3(NDUFS4):c.424+19dupT rs140172554
NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs) rs587776949
NM_002495.3(NDUFS4):c.466_470dup (p.Lys158Serfs)
NM_002495.3(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) rs1425486695
NM_002495.3(NDUFS4):c.99-1G>A rs376281345
NM_002496.3(NDUFS8):c.*14C>T rs1051806
NM_002496.3(NDUFS8):c.*26T>G rs886048592
NM_002496.3(NDUFS8):c.*40A>G rs61329983
NM_002496.3(NDUFS8):c.*44C>T rs201815115
NM_002496.3(NDUFS8):c.-76C>T rs544094420
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.3(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.3(NDUFS8):c.199+15T>G rs3115545
NM_002496.3(NDUFS8):c.199+5G>A rs373522607
NM_002496.3(NDUFS8):c.200-14C>T rs373128833
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.3(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.3(NDUFS8):c.501+12C>G rs372004236
NM_002496.3(NDUFS8):c.502-10C>T rs369961682
NM_002496.3(NDUFS8):c.502-13C>T rs199793417
NM_002496.3(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.3(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_002547.2(OPHN1):c.1579delA (p.Ile527Serfs)
NM_002547.2(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794
NM_002547.2(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.2(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002547.2(OPHN1):c.2159-4C>T rs587784233
NM_002547.2(OPHN1):c.215T>C (p.Ile72Thr) rs763066236
NM_002547.2(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961
NM_002547.2(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.2(OPHN1):c.644_645delTG (p.Val215Glyfs)
NM_002547.2(OPHN1):c.702+11A>C rs375325266
NM_002547.2(OPHN1):c.745_752dup (p.Lys251Asnfs)
NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dupA rs1057515728
NM_002764.3(PRPS1):c.-153delG rs768856537
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.154G>C (p.Asp52His) rs137852542
NM_002764.3(PRPS1):c.336T>C (p.Val112=) rs80338674
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly) rs587777150
NM_002764.3(PRPS1):c.385C>A (p.Leu129Ile) rs137852543
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.424G>C (p.Val142Leu) rs398122855
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.3(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.3(PRPS1):c.547G>C (p.Asp183His) rs137852541
NM_002764.3(PRPS1):c.569C>T (p.Ala190Val) rs137852544
NM_002764.3(PRPS1):c.579C>G (p.His193Gln) rs137852545
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
NM_003159.2(CDKL5):c.-162-2A>G rs786204973
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-189C>T rs786204994
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.-253_2276+?del
NM_003159.2(CDKL5):c.-253_64+?del
NM_003159.2(CDKL5):c.-253_825+?del
NM_003159.2(CDKL5):c.-253_977+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.100-2A>G rs267608423
NM_003159.2(CDKL5):c.100-7C>T rs752279222
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.1008_1029del22 (p.Ser337Argfs) rs786204964
NM_003159.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_003159.2(CDKL5):c.1079delT (p.Leu360Profs) rs267608565
NM_003159.2(CDKL5):c.1082dupC (p.Ala362Cysfs) rs267608566
NM_003159.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_003159.2(CDKL5):c.1116T>A (p.Ala372=)
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1198A>C (p.Asn400His)
NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_003159.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_003159.2(CDKL5):c.1286C>T (p.Pro429Leu)
NM_003159.2(CDKL5):c.1311dupC (p.Ser438Glnfs) rs267608623
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1341delC (p.Phe447Leufs) rs786204968
NM_003159.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_003159.2(CDKL5):c.1345_1346del (p.Glu449Lysfs) rs587783398
NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_003159.2(CDKL5):c.1417dupA (p.Ile473Asnfs) rs786204970
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.145+17A>G rs199814742
NM_003159.2(CDKL5):c.145+27_145+28delAT rs745969938
NM_003159.2(CDKL5):c.145+27_145+28dupAT rs745969938
NM_003159.2(CDKL5):c.145+2T>C rs267608430
NM_003159.2(CDKL5):c.1455_1460delGGCCAA (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.146-1G>A rs587783399
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_003159.2(CDKL5):c.1550delT (p.Phe517Serfs) rs786204972
NM_003159.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) rs267608433
NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_003159.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_003159.2(CDKL5):c.1684_1687del (p.Thr562Aspfs) rs1555952101
NM_003159.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_003159.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_003159.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_003159.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_003159.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_003159.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009
NM_003159.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_003159.2(CDKL5):c.1784dupG (p.Leu596Thrfs) rs786204974
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.1797dup (p.Ser600Glnfs) rs587783401
NM_003159.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_003159.2(CDKL5):c.183delT (p.Met63Cysfs) rs62643608
NM_003159.2(CDKL5):c.1854delC (p.Asp618Glufs) rs786204975
NM_003159.2(CDKL5):c.1891A>G (p.Ile631Val)
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.1892_1893dupTA (p.Gly632Terfs) rs267608646
NM_003159.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.200_201delTC (p.Leu67Glnfs) rs1555949011
NM_003159.2(CDKL5):c.2016delC (p.Ser673Leufs) rs267608648
NM_003159.2(CDKL5):c.2016dupC (p.Ser673Leufs) rs267608648
NM_003159.2(CDKL5):c.2022delC (p.Phe675Serfs) rs1060501860
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.2047-1G>A rs267608650
NM_003159.2(CDKL5):c.2066delC (p.Pro689Hisfs) rs267608651
NM_003159.2(CDKL5):c.207_213del7 (p.Glu70Leufs) rs786204977
NM_003159.2(CDKL5):c.2105_2106delAC (p.His702Profs) rs786204978
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.2142delC (p.Tyr716Thrfs)
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_003159.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_003159.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_003159.2(CDKL5):c.2277-2A>G rs786204979
NM_003159.2(CDKL5):c.229_232delGAAG (p.Glu77Hisfs) rs267608441
NM_003159.2(CDKL5):c.2325_2326delGA (p.Lys776Alafs) rs267608654
NM_003159.2(CDKL5):c.2343delG (p.Arg781Serfs) rs62643614
NM_003159.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_003159.2(CDKL5):c.2359_2363del (p.Lys787Glufs) rs1555954078
NM_003159.2(CDKL5):c.2363_2367delAGAAA (p.Lys788Ilefs) rs267608655
NM_003159.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_003159.2(CDKL5):c.2376+1G>A rs267608656
NM_003159.2(CDKL5):c.2376+1G>C rs267608656
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_003159.2(CDKL5):c.244delA (p.Arg82Glyfs) rs1555949041
NM_003159.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_003159.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_003159.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_003159.2(CDKL5):c.2502G>T (p.Gln834His)
NM_003159.2(CDKL5):c.2504delC (p.Pro835Hisfs) rs267608660
NM_003159.2(CDKL5):c.2529delA (p.Leu843Phefs) rs267608661
NM_003159.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
NM_003159.2(CDKL5):c.2572delC (p.Arg858Alafs) rs267608662
NM_003159.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_003159.2(CDKL5):c.2682_2683insGGAA (p.Pro895Glyfs)
NM_003159.2(CDKL5):c.26T>C (p.Val9Ala)
NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_003159.2(CDKL5):c.2713+129C>T rs1555955296
NM_003159.2(CDKL5):c.2714-47C>T rs786204995
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) rs369009993
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003159.2(CDKL5):c.275_276insAA (p.Glu93Metfs) rs786204982
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2797+8_2797+9delCT rs1555957573
NM_003159.2(CDKL5):c.282+1G>T
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.2(CDKL5):c.283-13A>G rs587783404
NM_003159.2(CDKL5):c.283-3_290del11 rs786204983
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) rs587783161
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) rs143243059
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) rs866859766
NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) rs150900695
NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) rs35693326
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003159.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_003159.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_003159.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.39delT (p.Phe13Leufs) rs267608415
NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_003159.2(CDKL5):c.403+1G>A rs786204984
NM_003159.2(CDKL5):c.404-1385_554+59del
NM_003159.2(CDKL5):c.404-1G>A rs267608474
NM_003159.2(CDKL5):c.404-1G>T rs267608474
NM_003159.2(CDKL5):c.404-?_554+?del
NM_003159.2(CDKL5):c.409A>G (p.Lys137Glu)
NM_003159.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_003159.2(CDKL5):c.453delG (p.Cys152Valfs) rs1555949763
NM_003159.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_003159.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_003159.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_003159.2(CDKL5):c.463+1G>A rs267608479
NM_003159.2(CDKL5):c.464-1G>A rs786204986
NM_003159.2(CDKL5):c.464-2A>G rs267608480
NM_003159.2(CDKL5):c.464-9A>G rs374030184
NM_003159.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_003159.2(CDKL5):c.506_507delCA (p.Thr169Argfs) rs786204987
NM_003159.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_003159.2(CDKL5):c.510_511dup (p.Tyr171Cysfs) rs786204988
NM_003159.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_003159.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_003159.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_003159.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_003159.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_003159.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_003159.2(CDKL5):c.549dupA (p.Leu184Thrfs) rs267608497
NM_003159.2(CDKL5):c.554+1G>A rs1555950083
NM_003159.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_003159.2(CDKL5):c.583T>G (p.Trp195Gly)
NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003159.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_003159.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_003159.2(CDKL5):c.614_617dup (p.Asp206Glufs) rs1555950465
NM_003159.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_003159.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_003159.2(CDKL5):c.638G>A (p.Gly213Glu)
NM_003159.2(CDKL5):c.64+2delT rs267608419
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_003159.2(CDKL5):c.65dupG (p.Ala23Serfs) rs267608420
NM_003159.2(CDKL5):c.660_664dup (p.Thr222Ilefs) rs786204990
NM_003159.2(CDKL5):c.679_691delCTAGGACCACTTCinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_003159.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_003159.2(CDKL5):c.725delC (p.Pro242Leufs) rs1555950494
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003159.2(CDKL5):c.747dupT (p.Pro250Serfs) rs875989880
NM_003159.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_003159.2(CDKL5):c.801_802delTA (p.Asn267Lysfs) rs267608528
NM_003159.2(CDKL5):c.818T>C (p.Leu273Pro)
NM_003159.2(CDKL5):c.826-2A>G rs1060501859
NM_003159.2(CDKL5):c.838_847del10 (p.Asp281Thrfs) rs61750250
NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_003159.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_003159.2(CDKL5):c.867dupA (p.Gln290Thrfs) rs267608537
NM_003159.2(CDKL5):c.868C>T (p.Gln290Ter)
NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.884delC (p.Pro295Leufs) rs267608542
NM_003159.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_003159.2(CDKL5):c.934A>G (p.Lys312Glu)
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003159.2(CDKL5):c.942delA (p.Lys314Asnfs) rs786204992
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.964dupA (p.Thr322Asnfs) rs267608552
NM_003159.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003159.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_003159.2(CDKL5):c.978-2A>G rs267608553
NM_003159.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_003159.2(CDKL5):c.99+1G>T rs267608421
NM_003159.2(CDKL5):c.99+5G>A rs587783131
NM_003336.3(UBE2A):c.32G>A (p.Arg11Gln) rs387906728
NM_003336.3(UBE2A):c.373del (p.Gln125Argfs) rs1556244406
NM_003336.3(UBE2A):c.382C>T (p.Gln128Ter) rs104894952
NM_003336.3(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003413.3(ZIC3):c.*1171_*1173delTTT rs1057515786
NM_003413.3(ZIC3):c.*1189A>G rs41300285
NM_003413.3(ZIC3):c.*1237A>T rs772508899
NM_003413.3(ZIC3):c.*1540G>A rs184855783
NM_003413.3(ZIC3):c.*1715A>G rs1057515787
NM_003413.3(ZIC3):c.*2024G>C rs113057036
NM_003413.3(ZIC3):c.*41A>G rs12387258
NM_003413.3(ZIC3):c.*489A>G rs183286584
NM_003413.3(ZIC3):c.*798_*802delTTTGT rs899320157
NM_003413.3(ZIC3):c.-479C>T rs1022475218
NM_003413.3(ZIC3):c.131C>G (p.Thr44Ser) rs78870836
NM_003413.3(ZIC3):c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) rs398122850
NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003413.3(ZIC3):c.906C>T (p.Cys302=) rs779221820
NM_003477.2(PDHX):c.*114A>G rs76663700
NM_003477.2(PDHX):c.*123A>G rs59918794
NM_003477.2(PDHX):c.*173G>A rs75863418
NM_003477.2(PDHX):c.*200T>C rs16926653
NM_003477.2(PDHX):c.*259G>T rs771515806
NM_003477.2(PDHX):c.*27A>C rs74524673
NM_003477.2(PDHX):c.*331G>C rs555691861
NM_003477.2(PDHX):c.*486G>T rs9326
NM_003477.2(PDHX):c.*644C>A rs7808
NM_003477.2(PDHX):c.*650G>A rs886048249
NM_003477.2(PDHX):c.