ClinVar Miner

List of variants studied for X-linked disease by Invitae

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3925
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_175427255)_(175450321_?)dup
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000007.14:g.(?_107901728)_(107906378_?)del
NC_000011.9:g.(?_111896177)_(111922093_?)del
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NC_000014.9:g.(?_28767260)_(28768769_?)del
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_128674397)_(128975941_?)dup
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149783052)_(149840078_?)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.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.10:g.(?_152954010)_(153141311_?)dup
NC_000023.10:g.(?_152954020)_(154096327_?)del
NC_000023.10:g.(?_152959340)_(153009209_?)del
NC_000023.10:g.(?_152990712)_(153009199_?)dup
NC_000023.10:g.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)dup
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153128108)_(153609567_?)dup
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153577217)_(153609557_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_153587342)_(153609567_?)dup
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153609093)_(153609182_?)del
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.(?_17393861)_(18671684_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18660114)_(19377781_?)del
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_25013922)_(25025556_?)dup
NC_000023.10:g.(?_25022767)_(25033874_?)dup
NC_000023.10:g.(?_25028377)_(25033854_?)dup
NC_000023.10:g.(?_30326313)_(41000684_?)del
NC_000023.10:g.(?_39911342)_(41782261_?)dup
NC_000023.10:g.(?_47432243)_(47479147_?)dup
NC_000023.10:g.(?_47464357)_(47479147_?)dup
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NC_000023.10:g.(?_53263381)_(53449569_?)dup
NC_000023.10:g.(?_68836133)_(69255479_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)dup
NC_000023.10:g.(?_69080668)_(69177002_?)del
NC_000023.10:g.(?_69080668)_(69177002_?)dup
NC_000023.10:g.(?_69243048)_(69255479_?)del
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_99551255)_(99905882_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)dup
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_100646303)_(100671007_?)dup
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124365741)_(124371411_?)del
NC_000023.11:g.(?_134460292)_(134460385_?)del
NC_000023.11:g.(?_134460292)_(134500097_?)del
NC_000023.11:g.(?_134473339)_(134500097_?)del
NC_000023.11:g.(?_134500010)_(134500097_?)del
NC_000023.11:g.(?_135985483)_(136024503_?)dup
NC_000023.11:g.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136648058)_(136659435_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NC_000023.11:g.(?_153688555)_(153688856_?)del
NC_000023.11:g.(?_153736092)_(153743755_?)del
NC_000023.11:g.(?_153736102)_(153743735_?)del
NC_000023.11:g.(?_153736102)_(153743745_?)del
NC_000023.11:g.(?_153740082)_(153740247_?)del
NC_000023.11:g.(?_153742977)_(153743745_?)del
NC_000023.11:g.(?_153743201)_(153743755_?)del
NC_000023.11:g.(?_17687722)_(17692488_?)dup
NC_000023.11:g.(?_17692315)_(17692488_?)del
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.(?_18653412)_(18653564_?)del
NC_000023.11:g.(?_20155378)_(20176518_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NC_000023.11:g.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NC_000023.11:g.(?_38352331)_(38352793_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)dup
NC_000023.11:g.(?_38367271)_(38367449_?)del
NC_000023.11:g.(?_38381322)_(38413090_?)del
NC_000023.11:g.(?_38401255)_(38401693_?)del
NC_000023.11:g.(?_40052089)_(40077949_?)del
NC_000023.11:g.(?_40057155)_(40077969_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NC_000023.11:g.(?_40581046)_(40605775_?)dup
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)dup
NC_000023.11:g.(?_69957017)_(69957142_?)del
NC_000023.11:g.(?_70035338)_(70035629_?)del
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NG_042874.1:g.5453G>A
NG_042874.1:g.5456C>T
NG_042874.1:g.5499C>T rs73597595
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1081+1G>A
NM_000033.4(ABCD1):c.108G>A (p.Val36=)
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=)
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) rs782266592
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His)
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser)
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1489-1G>A
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=)
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=)
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1781-7C>T
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=)
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=)
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=)
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598
NM_000033.4(ABCD1):c.564G>C (p.Gly188=)
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp)
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
NM_000033.4(ABCD1):c.795C>T (p.Phe265=)
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
NM_000033.4(ABCD1):c.819G>A (p.Ala273=)
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.901-5C>T
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu)
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) rs61733256
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.430+8C>T rs56393981
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.2(ARSL):c.775C>G (p.His259Asp) rs138149353
NM_000047.2(ARSL):c.78A>G (p.Ala26=) rs35718384
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.1158del (p.Ile387fs)
NM_000047.3(ARSL):c.1289+9C>T
NM_000047.3(ARSL):c.1386C>T (p.His462=)
NM_000047.3(ARSL):c.1408G>C (p.Asp470His)
NM_000047.3(ARSL):c.220G>A (p.Val74Met)
NM_000047.3(ARSL):c.23+5G>C
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
NM_000047.3(ARSL):c.714C>T (p.Leu238=)
NM_000047.3(ARSL):c.840G>A (p.Ala280=)
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1945_1946+2dup
NM_000052.7(ATP7A):c.1947-5A>G
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
NM_000052.7(ATP7A):c.2019_2021dup (p.Met674_Asp675insIle) rs1569549885
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172+7G>T rs782433802
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=)
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.7(ATP7A):c.2498+3A>T
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=)
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3294+1G>A
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=)
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3802-9A>G
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.610+8G>A rs144616937
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=)
NM_000074.2(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.2(CD40LG):c.322_325delGAAA rs1569376930
NM_000074.2(CD40LG):c.330C>A (p.Ser110Arg) rs368691563
NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.2(CD40LG):c.373C>T (p.His125Tyr)
NM_000074.2(CD40LG):c.379A>G (p.Ile127Val)
NM_000074.2(CD40LG):c.38C>T (p.Ala13Val) rs368003929
NM_000074.2(CD40LG):c.403_405delACA rs1490893550
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.2(CD40LG):c.508_510delTAT
NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter)
NM_000074.2(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter)
NM_000074.2(CD40LG):c.684A>G (p.Val228=) rs11575983
NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser) rs1569377884
NM_000074.2(CD40LG):c.7G>A (p.Glu3Lys)
NM_000074.2(CD40LG):c.81A>G (p.Leu27=) rs36063307
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile)
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln)
NM_000074.3(CD40LG):c.369G>A (p.Ala123=)
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
NM_000074.3(CD40LG):c.410-3_410-2del
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile)
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr)
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu)
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser)
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu)
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)
NM_000108.5(DLD):c.1047-13_1047-5del
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.119-4G>A rs376605135
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1340_1343CAGA[1] (p.Asp448fs)
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1443T>G (p.Ala481=)
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
NM_000108.5(DLD):c.199-7G>T
NM_000108.5(DLD):c.204C>G (p.Val68=)
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.267+9G>A
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361
NM_000108.5(DLD):c.285T>C (p.Ser95=)
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.367A>G (p.Met123Val)
NM_000108.5(DLD):c.36C>T (p.Ala12=)
NM_000108.5(DLD):c.375G>A (p.Glu125=)
NM_000108.5(DLD):c.470C>G (p.Thr157Ser)
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.519T>G (p.Val173=)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=)
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.57A>T (p.Arg19=)
NM_000108.5(DLD):c.583-3C>T
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.814T>C (p.Phe272Leu)
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000108.5(DLD):c.876-6A>T
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
NM_000108.5(DLD):c.96G>C (p.Leu32=)
NM_000117.2(EMD):c.-248_*326dup1339
NM_000117.2(EMD):c.103G>A (p.Glu35Lys) rs782222974
NM_000117.2(EMD):c.110A>T (p.Lys37Met) rs1085307681
NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.2(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.2(EMD):c.166G>A (p.Ala56Thr) rs1057520579
NM_000117.2(EMD):c.187+1G>T rs794729010
NM_000117.2(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) rs1557182364
NM_000117.2(EMD):c.243C>T (p.Asp81=) rs150757295
NM_000117.2(EMD):c.267C>G (p.Gly89=) rs1201464258
NM_000117.2(EMD):c.276C>T (p.Asp92=) rs782680849
NM_000117.2(EMD):c.295T>C (p.Tyr99His) rs781835089
NM_000117.2(EMD):c.353G>A (p.Arg118His) rs782201984
NM_000117.2(EMD):c.355C>A (p.Gln119Lys) rs398123157
NM_000117.2(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.2(EMD):c.400G>A (p.Val134Met) rs201250825
NM_000117.2(EMD):c.412G>A (p.Asp138Asn)
NM_000117.2(EMD):c.427_429delTCT
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.2(EMD):c.432A>G (p.Glu144=) rs377125466
NM_000117.2(EMD):c.444G>A (p.Lys148=) rs781889750
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
NM_000117.2(EMD):c.449+5G>A rs370840449
NM_000117.2(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.2(EMD):c.450-2A>G rs398123158
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.459C>T (p.Pro153=)
NM_000117.2(EMD):c.466G>A (p.Gly156Ser) rs144594695
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.2(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.2(EMD):c.502C>T (p.Arg168Cys) rs886044839
NM_000117.2(EMD):c.503G>A (p.Arg168His)
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.2(EMD):c.608G>A (p.Arg203His) rs144842093
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.2(EMD):c.610C>T (p.Arg204Cys) rs782299893
NM_000117.2(EMD):c.611G>A (p.Arg204His) rs782642152
NM_000117.2(EMD):c.620G>C (p.Arg207Pro)
NM_000117.2(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.2(EMD):c.671C>T (p.Pro224Leu) rs782559230
NM_000117.2(EMD):c.704T>C (p.Phe235Ser) rs782627156
NM_000117.2(EMD):c.717_718delCT
NM_000117.2(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.2(EMD):c.746A>G (p.Glu249Gly) rs781947413
NM_000117.2(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.136C>T (p.Arg46Trp)
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.3(EMD):c.153C>A (p.Pro51=)
NM_000117.3(EMD):c.234G>A (p.Lys78=)
NM_000117.3(EMD):c.271A>G (p.Asn91Asp)
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.3(EMD):c.306C>T (p.Thr102=)
NM_000117.3(EMD):c.330T>A (p.Ser110=)
NM_000117.3(EMD):c.330T>G (p.Ser110=)
NM_000117.3(EMD):c.361G>A (p.Val121Met)
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.3(EMD):c.399+10C>T
NM_000117.3(EMD):c.400-9C>T rs782061626
NM_000117.3(EMD):c.413A>G (p.Asp138Gly)
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299
NM_000117.3(EMD):c.582A>C (p.Ser194=)
NM_000117.3(EMD):c.585A>G (p.Ser195=)
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936
NM_000117.3(EMD):c.618C>T (p.Ile206=)
NM_000117.3(EMD):c.639T>C (p.Pro213=)
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.712G>A (p.Val238Ile)
NM_000117.3(EMD):c.714C>T (p.Val238=)
NM_000117.3(EMD):c.762C>T (p.Phe254=)
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.77dup (p.Val27fs)
NM_000117.3(EMD):c.83-2A>C
NM_000194.3(HPRT1):c.124_127del (p.Ile42fs)
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.22_27+28del
NM_000194.3(HPRT1):c.319-2A>G
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) rs369065223
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)
NM_000194.3(HPRT1):c.486-2A>G
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr)
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer)
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly)
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1006+8T>C
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.103+7C>T
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1143C>T (p.Leu381=)
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.1248G>A (p.Leu416=)
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087
NM_000202.8(IDS):c.1284C>T (p.His428=)
NM_000202.8(IDS):c.1293G>A (p.Leu431=)
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1452_1453TA[1] (p.Ile485fs)
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys)
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile)
NM_000202.8(IDS):c.162T>C (p.Tyr54=)
NM_000202.8(IDS):c.234T>C (p.Phe78=)
NM_000202.8(IDS):c.237G>A (p.Ala79=)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
NM_000202.8(IDS):c.336C>T (p.His112=)
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245
NM_000202.8(IDS):c.418+1G>C
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
NM_000202.8(IDS):c.450G>A (p.Pro150=)
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.8(IDS):c.507+6G>T
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.666C>T (p.Ala222=)
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263
NM_000202.8(IDS):c.684A>G (p.Pro228=)
NM_000202.8(IDS):c.696C>T (p.Phe232=)
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.708+1G>T
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.760G>A (p.Glu254Lys)
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810
NM_000202.8(IDS):c.825C>T (p.Asp275=)
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
NM_000202.8(IDS):c.849G>C (p.Val283=)
NM_000202.8(IDS):c.851C>T (p.Pro284Leu)
NM_000202.8(IDS):c.881G>A (p.Arg294Gln)
NM_000202.8(IDS):c.884A>G (p.Lys295Arg)
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000202.8(IDS):c.937C>T (p.Arg313Cys)
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487
NM_000202.8(IDS):c.984del (p.Ile329fs)
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000240.3(MAOA):c.1545G>T (p.Gly515=)
NM_000240.3(MAOA):c.168+11_168+15del
NM_000240.3(MAOA):c.260A>G (p.Glu87Gly)
NM_000240.3(MAOA):c.3G>A (p.Met1Ile)
NM_000240.3(MAOA):c.402G>A (p.Met134Ile) rs771740634
NM_000240.3(MAOA):c.515G>A (p.Arg172Gln) rs58524323
NM_000240.3(MAOA):c.702C>T (p.Leu234=)
NM_000240.3(MAOA):c.74-6C>T
NM_000240.3(MAOA):c.816G>A (p.Ala272=)
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.890G>A (p.Arg297Gln) rs780647851
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1261-10A>G rs397518445
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.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
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.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1468-10C>T rs782174623
NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.2(MTM1):c.1666C>T (p.Arg556Cys)
NM_000252.2(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1702A>G (p.Ile568Val) rs587783807
NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.233A>T (p.Asp78Val)
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.342_342+4del rs797045717
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.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.481G>A (p.Val161Met) rs782744530
NM_000252.2(MTM1):c.530G>T (p.Gly177Val)
NM_000252.2(MTM1):c.543C>G (p.His181Gln)
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.5C>T (p.Ala2Val)
NM_000252.2(MTM1):c.63+7del rs782222093
NM_000252.2(MTM1):c.64-2A>G
NM_000252.2(MTM1):c.65C>T (p.Thr22Met) rs781886721
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.679-1G>A rs672601324
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.76_90del (p.Gly26_Asp30del)
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.2(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.1054-9_1054-6del
NM_000252.3(MTM1):c.1131C>T (p.Asp377=)
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
NM_000252.3(MTM1):c.1578C>T (p.Ala526=)
NM_000252.3(MTM1):c.1692C>T (p.Arg564=)
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
NM_000252.3(MTM1):c.546T>C (p.His182=)
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu)
NM_000252.3(MTM1):c.615G>A (p.Pro205=)
NM_000252.3(MTM1):c.620G>A (p.Arg207His)
NM_000252.3(MTM1):c.624del (p.Ser209fs)
NM_000252.3(MTM1):c.64-9T>C
NM_000252.3(MTM1):c.678+6T>A
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)
NM_000252.3(MTM1):c.954G>C (p.Arg318=)
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) rs1569460215
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro)
NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer)
NM_000276.4(OCRL):c.1467-3C>G
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) rs1569460717
NM_000276.4(OCRL):c.1602G>A (p.Gly534=) rs773214157
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val)
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) rs935956958
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
NM_000276.4(OCRL):c.2469+1G>A
NM_000276.4(OCRL):c.2470-1G>A
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000276.4(OCRL):c.441G>A (p.Gly147=)
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs)
NM_000276.4(OCRL):c.746T>G (p.Val249Gly)
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) rs1556345889
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=)
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.292-5C>T rs191666624
NM_000284.4(PDHA1):c.318C>T (p.Ala106=)
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.57+6A>T
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.657T>C (p.Ile219=)
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
NM_000284.4(PDHA1):c.759+10C>G
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.765T>C (p.Asp255=)
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213
NM_000284.4(PDHA1):c.813C>T (p.Ala271=)
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
NM_000284.4(PDHA1):c.870C>T (p.His290=)
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067
NM_000330.4(RS1):c.184+3119G>A
NM_000330.4(RS1):c.184+3170G>A
NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_000330.4(RS1):c.326+1151T>C
NM_000377.2(WAS):c.-37_132+35del
NM_000377.2(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.2(WAS):c.1060_1062delCCA rs1569494034
NM_000377.2(WAS):c.1196C>G (p.Pro399Arg)
NM_000377.2(WAS):c.1200G>A (p.Pro400=) rs375356111
NM_000377.2(WAS):c.1255C>A (p.Leu419Met) rs1422863482
NM_000377.2(WAS):c.1299G>A (p.Ala433=) rs372649110
NM_000377.2(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.2(WAS):c.223G>A (p.Val75Met) rs782290433
NM_000377.2(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.2(WAS):c.264C>T (p.Tyr88=) rs150520117
NM_000377.2(WAS):c.266G>A (p.Gly89Asp)
NM_000377.2(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.2(WAS):c.273+10_273+11dup rs58371799
NM_000377.2(WAS):c.285G>A (p.Leu95=) rs781799471
NM_000377.2(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.2(WAS):c.355G>T (p.Gly119Ter)
NM_000377.2(WAS):c.360+8A>G rs1557006508
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.413G>A (p.Arg138Gln) rs139265251
NM_000377.2(WAS):c.459T>G (p.Ser153Arg)
NM_000377.2(WAS):c.463+3G>C
NM_000377.2(WAS):c.470_471del (p.Arg157fs)
NM_000377.2(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.2(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.559+8C>G
NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.2(WAS):c.631C>T (p.Arg211Ter)
NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)
NM_000377.2(WAS):c.679C>T (p.Arg227Cys)
NM_000377.2(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.2(WAS):c.695_697delAGA rs782409127
NM_000377.2(WAS):c.734+2T>A rs1569493877
NM_000377.2(WAS):c.777+1G>A rs1057517845
NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)
NM_000377.2(WAS):c.873C>T (p.Tyr291=) rs149123892
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.2(WAS):c.897G>A (p.Gly299=) rs782793103
NM_000377.2(WAS):c.90C>T (p.His30=) rs148800063
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.2(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.2(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.2(WAS):c.985C>G (p.Pro329Ala) rs1557007136
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000377.3(WAS):c.1058dup (p.Pro354fs)
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr)
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)
NM_000377.3(WAS):c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1197A>G (p.Pro399=)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr)
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)
NM_000377.3(WAS):c.1253C>T (p.Ala418Val)
NM_000377.3(WAS):c.1266_1267insG rs1557007312
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro)
NM_000377.3(WAS):c.141C>T (p.Ala47=)
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn)
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)
NM_000377.3(WAS):c.184G>C (p.Glu62Gln)
NM_000377.3(WAS):c.238C>T (p.Gln80Ter)
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)
NM_000377.3(WAS):c.339C>T (p.Phe113=)
NM_000377.3(WAS):c.35dup (p.Arg13fs)
NM_000377.3(WAS):c.390C>T (p.Asp130=)
NM_000377.3(WAS):c.436del (p.Gln146fs)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)
NM_000377.3(WAS):c.858del (p.Ser287fs)
NM_000377.3(WAS):c.874G>A (p.Asp292Asn)
NM_000377.3(WAS):c.946C>A (p.Pro316Thr)
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser)
NM_000489.5(ATRX):c.1032C>T (p.Ser344=)
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1047C>G (p.Pro349=)
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.1111G>C (p.Val371Leu)
NM_000489.5(ATRX):c.1130C>T (p.Ala377Val)
NM_000489.5(ATRX):c.1159A>G (p.Thr387Ala)
NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys) rs150484080
NM_000489.5(ATRX):c.1245C>T (p.Ser415=)
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1257G>A (p.Ala419=)
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr)
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1303A>G (p.Ile435Val)
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1423C>G (p.His475Asp) rs146863015
NM_000489.5(ATRX):c.1446A>C (p.Glu482Asp)
NM_000489.5(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.5(ATRX):c.1467C>T (p.Thr489=) rs199929884
NM_000489.5(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.5(ATRX):c.1606A>G (p.Met536Val)
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1645A>G (p.Ser549Gly)
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.5(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.5(ATRX):c.16A>G (p.Met6Val)
NM_000489.5(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val) rs375129029
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.1827A>G (p.Pro609=)
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.189+7A>G
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492
NM_000489.5(ATRX):c.1974T>G (p.Arg658=)
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2001G>A (p.Pro667=)
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.5(ATRX):c.2118T>A (p.Ser706Arg)
NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.5(ATRX):c.2224A>G (p.Ser742Gly)
NM_000489.5(ATRX):c.2225G>C (p.Ser742Thr)
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.5(ATRX):c.2241_2243TTC[2] (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2388A>C (p.Lys796Asn)
NM_000489.5(ATRX):c.2423G>A (p.Arg808Gln)
NM_000489.5(ATRX):c.243-4A>T
NM_000489.5(ATRX):c.2457A>G (p.Ser819=)
NM_000489.5(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.5(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.5(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.5(ATRX):c.2492T>C (p.Ile831Thr)
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser)
NM_000489.5(ATRX):c.2507C>A (p.Thr836Asn)
NM_000489.5(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.5(ATRX):c.2531C>A (p.Thr844Lys)
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.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu) rs782162927
NM_000489.5(ATRX):c.2648A>G (p.Gln883Arg) rs587778086
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2658G>C (p.Glu886Asp)
NM_000489.5(ATRX):c.2674G>A (p.Glu892Lys)
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2697G>A (p.Thr899=)
NM_000489.5(ATRX):c.2701A>G (p.Ile901Val) rs587778087
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala)
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.5(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.5(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.2880C>T (p.Gly960=)
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val)
NM_000489.5(ATRX):c.2923G>A (p.Asp975Asn)
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.5(ATRX):c.3030A>G (p.Glu1010=)
NM_000489.5(ATRX):c.3042T>C (p.Asp1014=)
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
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.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3306G>A (p.Arg1102=)
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3417T>C (p.Asn1139=)
NM_000489.5(ATRX):c.3462A>G (p.Ser1154=)
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln) rs1225665090
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3537C>T (p.Val1179=)
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val) rs782554626
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3646A>G (p.Ile1216Val)
NM_000489.5(ATRX):c.3663C>T (p.Ser1221=)
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G
NM_000489.5(ATRX):c.3786T>C (p.Asp1262=)
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.3978A>G (p.Ser1326=)
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.5(ATRX):c.4203G>A (p.Arg1401=)
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4214+6A>G rs782562759
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn)
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp)
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4329G>A (p.Glu1443=)
NM_000489.5(ATRX):c.4332_4334AGA[1] (p.Glu1448del)
NM_000489.5(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.5(ATRX):c.4353_4355GGA[2] (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619
NM_000489.5(ATRX):c.4368G>A (p.Glu1456=)
NM_000489.5(ATRX):c.4422A>C (p.Gly1474=)
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000489.5(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4710T>C (p.Phe1570=)
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.4859G>A (p.Ser1620Asn)
NM_000489.5(ATRX):c.4863G>A (p.Thr1621=)
NM_000489.5(ATRX):c.5073A>G (p.Gln1691=)
NM_000489.5(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.5(ATRX):c.5349A>G (p.Pro1783=) rs149960511
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5484T>C (p.Pro1828=)
NM_000489.5(ATRX):c.5493C>T (p.His1831=)
NM_000489.5(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.5(ATRX):c.5559C>T (p.His1853=)
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5566+5A>C
NM_000489.5(ATRX):c.5573G>A (p.Gly1858Asp)
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.567C>T (p.His189=)
NM_000489.5(ATRX):c.5698-15dup rs781820607
NM_000489.5(ATRX):c.5698-7del
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu)
NM_000489.5(ATRX):c.5957-9C>G
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6024T>C (p.Asp2008=)
NM_000489.5(ATRX):c.6036G>A (p.Glu2012=)
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile)
NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.5(ATRX):c.6505-8T>C
NM_000489.5(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.6873A>G (p.Ile2291Met)
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.5(ATRX):c.7044A>G (p.Gln2348=)
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.711T>C (p.Asn237=)
NM_000489.5(ATRX):c.7201-4A>G rs782317502
NM_000489.5(ATRX):c.7254C>T (p.Tyr2418=)
NM_000489.5(ATRX):c.7256A>G (p.Asn2419Ser)
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215
NM_000489.5(ATRX):c.737G>T (p.Arg246Leu)
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.820T>C (p.Leu274=)
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000489.5(ATRX):c.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val)
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
NM_000489.6(ATRX):c.18G>A (p.Met6Ile)
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly)
NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala)
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=)
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
NM_000489.6(ATRX):c.370+5T>C
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly)
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly)
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp)
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn)
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+3_298+6del
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.299-5T>C
NM_000531.6(OTC):c.307C>T (p.Leu103Phe) rs779154479
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.372C>T (p.Leu124=)
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.390A>G (p.Val130=)
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.485G>T (p.Gly162Val)
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.534G>A (p.Thr178=)
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.582C>T (p.Ile194=)
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.614T>A (p.Met205Lys)
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.762G>A (p.Ala254=)
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.6(OTC):c.926_928AAG[1] (p.Glu310del)
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.150T>C (p.Asp50=)
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.204+9A>C rs202068841
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
NM_000925.4(PDHB):c.417T>C (p.Pro139=)
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.498T>C (p.Tyr166=)
NM_000925.4(PDHB):c.501G>T (p.Gly167=)
NM_000925.4(PDHB):c.564A>G (p.Lys188=) rs146996786
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599
NM_000925.4(PDHB):c.97-5G>A
NM_001008537.3(NEXMIF):c.1121G>A (p.Gly374Glu) rs756593372
NM_001008537.3(NEXMIF):c.1154G>A (p.Gly385Asp) rs375109305
NM_001008537.3(NEXMIF):c.1256A>G (p.Glu419Gly) rs1018310077
NM_001008537.3(NEXMIF):c.1328G>A (p.Ser443Asn) rs1569335728
NM_001008537.3(NEXMIF):c.1349A>T (p.Tyr450Phe) rs1569335723
NM_001008537.3(NEXMIF):c.16G>T (p.Asp6Tyr) rs1569336346
NM_001008537.3(NEXMIF):c.1728C>A (p.Asn576Lys)
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.1904G>C (p.Arg635Thr) rs766086192
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.3(NEXMIF):c.2062G>A (p.Gly688Arg)
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) rs139194076
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs) rs1569335485
NM_001008537.3(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser)
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556
NM_001008537.3(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.3(NEXMIF):c.2404A>G (p.Asn802Asp)
NM_001008537.3(NEXMIF):c.2504A>C (p.His835Pro) rs762983389
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183
NM_001008537.3(NEXMIF):c.2527G>C (p.Gly843Arg)
NM_001008537.3(NEXMIF):c.2570C>T (p.Pro857Leu)
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys)
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs) rs1556016438
NM_001008537.3(NEXMIF):c.2723T>G (p.Ile908Arg)
NM_001008537.3(NEXMIF):c.2849A>T (p.Tyr950Phe)
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val) rs779441513
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs) rs1556016381
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs) rs1556016352
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs) rs1556016350
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs) rs1569335135
NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887
NM_001008537.3(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.3(NEXMIF):c.347A>G (p.Asn116Ser)
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr)
NM_001008537.3(NEXMIF):c.3574T>C (p.Ser1192Pro) rs1286509026
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp)
NM_001008537.3(NEXMIF):c.3653A>G (p.Gln1218Arg) rs946717276
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001008537.3(NEXMIF):c.3782G>C (p.Cys1261Ser) rs1339493509
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs) rs1569334937
NM_001008537.3(NEXMIF):c.395C>T (p.Ser132Leu)
NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr) rs774654591
NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile)
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs)
NM_001008537.3(NEXMIF):c.563A>C (p.Asn188Thr) rs753449220
NM_001008537.3(NEXMIF):c.61A>G (p.Asn21Asp) rs1364113624
NM_001008537.3(NEXMIF):c.637A>C (p.Arg213=)
NM_001008537.3(NEXMIF):c.911G>T (p.Gly304Val) rs376455886
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.374+8T>C rs142596708
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885
NM_001015877.2(PHF6):c.729+4A>G rs188961105
NM_001015877.2(PHF6):c.829del (p.Arg277fs)
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174
NM_001042537.1(SLC9A6):c.*8A>T rs200171451
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met) rs1556618832
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1237-8C>T rs1060504684
NM_001042537.1(SLC9A6):c.1239G>A (p.Leu413=) rs151178361
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) rs1556619315
NM_001042537.1(SLC9A6):c.141C>T (p.Gly47=) rs139299794
NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp) rs1569525357
NM_001042537.1(SLC9A6):c.148G>T (p.Ala50Ser) rs367724979
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=) rs782370742
NM_001042537.1(SLC9A6):c.1616+10A>G rs185533973
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1616+6T>C rs781963949
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.1899A>T (p.Thr633=) rs782629258
NM_001042537.1(SLC9A6):c.1939A>G (p.Ser647Gly) rs558960349
NM_001042537.1(SLC9A6):c.1A>G (p.Met1Val)
NM_001042537.1(SLC9A6):c.2000T>G (p.Phe667Cys)
NM_001042537.1(SLC9A6):c.227_244del (p.Ile76_Leu81del)
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.269T>C (p.Leu90Pro) rs1556614843
NM_001042537.1(SLC9A6):c.362A>G (p.His121Arg) rs1060502675
NM_001042537.1(SLC9A6):c.369G>A (p.Pro123=)
NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu)
NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys) rs1556616834
NM_001042537.1(SLC9A6):c.630T>C (p.Ser210=) rs144316388
NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=)
NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr) rs796053281
NM_001042537.1(SLC9A6):c.672C>T (p.Phe224=) rs1423014570
NM_001042537.1(SLC9A6):c.705G>A (p.Thr235=)
NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile) rs1556616995
NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp)
NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val)
NM_001042537.1(SLC9A6):c.899+1G>A rs1556617455
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu) rs1016216648
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258
NM_001077269.1(WIPF1):c.100A>G (p.Asn34Asp) rs373043385
NM_001077269.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153
NM_001077269.1(WIPF1):c.1084A>G (p.Ser362Gly) rs147847123
NM_001077269.1(WIPF1):c.1085G>A (p.Ser362Asn) rs779795011
NM_001077269.1(WIPF1):c.1116G>A (p.Pro372=)
NM_001077269.1(WIPF1):c.1164C>T (p.Asn388=)
NM_001077269.1(WIPF1):c.1170C>T (p.Ser390=)
NM_001077269.1(WIPF1):c.1227T>C (p.Ser409=)
NM_001077269.1(WIPF1):c.122G>A (p.Ser41Asn)
NM_001077269.1(WIPF1):c.1296A>G (p.Pro432=) rs76731102
NM_001077269.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750
NM_001077269.1(WIPF1):c.1413G>A (p.Thr471=) rs149092210
NM_001077269.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787
NM_001077269.1(WIPF1):c.1454G>A (p.Arg485Gln)
NM_001077269.1(WIPF1):c.1497T>A (p.Pro499=)
NM_001077269.1(WIPF1):c.208G>A (p.Gly70Ser) rs138276021
NM_001077269.1(WIPF1):c.212G>A (p.Gly71Asp)
NM_001077269.1(WIPF1):c.231C>T (p.Gly77=)
NM_001077269.1(WIPF1):c.232G>A (p.Gly78Ser)
NM_001077269.1(WIPF1):c.235G>A (p.Gly79Arg) rs531744802
NM_001077269.1(WIPF1):c.243C>T (p.Gly81=)
NM_001077269.1(WIPF1):c.255_269del (p.Gly86_Gly90del)
NM_001077269.1(WIPF1):c.30G>A (p.Pro10=)
NM_001077269.1(WIPF1):c.32C>T (p.Pro11Leu)
NM_001077269.1(WIPF1):c.339C>G (p.Ser113=) rs76308107
NM_001077269.1(WIPF1):c.401G>A (p.Arg134Lys)
NM_001077269.1(WIPF1):c.42G>A (p.Thr14=) rs111761533
NM_001077269.1(WIPF1):c.430C>A (p.Pro144Thr)
NM_001077269.1(WIPF1):c.473G>A (p.Arg158Lys)
NM_001077269.1(WIPF1):c.712T>C (p.Ser238Pro)
NM_001077269.1(WIPF1):c.76A>T (p.Asn26Tyr)
NM_001077269.1(WIPF1):c.776C>T (p.Ala259Val)
NM_001077269.1(WIPF1):c.78T>C (p.Asn26=) rs35923393
NM_001077269.1(WIPF1):c.848C>G (p.Pro283Arg)
NM_001077269.1(WIPF1):c.860C>T (p.Pro287Leu) rs891642872
NM_001077269.1(WIPF1):c.936T>G (p.Pro312=) rs1040586347
NM_001077269.1(WIPF1):c.975C>G (p.Ser325=)
NM_001077269.1(WIPF1):c.978C>G (p.Ser326Arg)
NM_001077269.1(WIPF1):c.987C>T (p.Asp329=)
NM_001079872.1(CUL4B):c.951_953TAT[1] (p.Ile319del) rs1556214312
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001082486.1(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228
NM_001082486.2(ACD):c.-188_-187inv (p.Trp24Ser)
NM_001082486.2(ACD):c.-24C>T
NM_001082486.2(ACD):c.-9G>T
NM_001082486.2(ACD):c.100-6C>T
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
NM_001082486.2(ACD):c.1207-10C>T rs67185288
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120
NM_001082486.2(ACD):c.1297A>C (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469
NM_001082486.2(ACD):c.242+8G>A
NM_001082486.2(ACD):c.330C>A (p.Gly110=)
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
NM_001082486.2(ACD):c.399_400insAAG (p.Arg134_Val135insLys)
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
NM_001082486.2(ACD):c.493+7T>C
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815
NM_001082486.2(ACD):c.830-1G>A
NM_001082486.2(ACD):c.846C>T (p.Pro282=)
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) rs1057522072
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1065+1G>T
NM_001110556.2(FLNA):c.108G>A (p.Ala36=)
NM_001110556.2(FLNA):c.108_110GGA[1] (p.Glu37del)
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr)
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.1170C>A (p.Gly390=)
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1229-8C>T rs376190976
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys)
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1260C>T (p.Ile420=)
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) rs782649138
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.141C>T (p.Asn47=)
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp)
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1429+9G>A
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) rs782682232
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp)
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001110556.2(FLNA):c.1608C>T (p.Gly536=)
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=)
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1691+7C>A rs199565118
NM_001110556.2(FLNA):c.1692-10G>A rs199740539
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) rs200673062
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu)
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly)
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322
NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn)
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) rs782718606
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001110556.2(FLNA):c.1932C>T (p.Ala644=)
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His)
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) rs782344845
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2023-5G>A
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His)
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) rs781840723
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys)
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser)
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001110556.2(FLNA):c.2280+9A>G
NM_001110556.2(FLNA):c.2281-3C>A
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957
NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.237G>T (p.Ala79=)
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001110556.2(FLNA):c.2405-4G>A rs368187218
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) rs374672498
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn)
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) rs1347740802
NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg)
NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile)
NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His)
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2827-2A>C
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202
NM_001110556.2(FLNA):c.2838C>T (p.Gly946=)
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu)
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=)
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) rs781970327
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys)
NM_001110556.2(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=)
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001110556.2(FLNA):c.3429C>A (p.Thr1143=)
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser) rs868975259
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly)
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=) rs782300292
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) rs201810442
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=)
NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met) rs781861717
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser)
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile)
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042
NM_001110556.2(FLNA):c.373+10G>A rs368292402
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001110556.2(FLNA):c.3805+10C>T
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=)
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg)
NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=)
NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) rs782342052
NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=)
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4142+1G>A
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile)
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.4236C>T (p.Val1412=)
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) rs192337215
NM_001110556.2(FLNA):c.4303+7_4303+9del
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) rs863223617
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001110556.2(FLNA):c.441C>T (p.His147=)
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile)
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg)
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln)
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+8G>C rs112379782
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) rs1181500076
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4755+5G>A rs199803218
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)
NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=) rs781789823
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) rs782314291
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.4945+3G>A rs372673802
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) rs1557176627
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) rs782555986
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) rs782646183
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268
NM_001110556.2(FLNA):c.5218-4G>A rs370196495
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) rs782031542
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) rs1027131950
NM_001110556.2(FLNA):c.5313+4C>T rs377330443
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met)
NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=) rs372028899
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) rs886039107
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) rs782549964
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) rs781794030
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) rs782359458
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263
NM_001110556.2(FLNA):c.5861-9C>T rs782153045
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) rs190712778
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) rs782618234
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.5973G>A (p.Ser1991=) rs375252292
NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln) rs782401919
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) rs782401919
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp)
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205
NM_001110556.2(FLNA):c.60C>T (p.Gly20=)
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) rs1557176131
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys)
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser)
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) rs782365685
NM_001110556.2(FLNA):c.622+10C>T rs781889769
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe)
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) rs968230475
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) rs1569551477
NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=)
NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=)
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) rs370277156
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile)
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His)
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) rs1557176052
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) rs201396725
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)
NM_001110556.2(FLNA):c.6502+8C>G
NM_001110556.2(FLNA):c.6503-9A>G rs781919390
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825
NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=) rs781992483
NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=) rs782053327
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu)
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6657G>A (p.Gln2219=)
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) rs376461465
NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys)
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) rs1557175878
NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=) rs1557175875
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys)
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814
NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=) rs782356784
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) rs1557175818
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu)
NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=) rs374786760
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928
NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His) rs377274096
NM_001110556.2(FLNA):c.7023+10C>T rs782777494
NM_001110556.2(FLNA):c.7023+7C>T
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) rs1557175657
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) rs864622713
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700
NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=)
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp)
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) rs1557179587
NM_001110556.2(FLNA):c.7152C>T (p.Asp2384=)
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly) rs371563857
NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=) rs1557175472
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp)
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) rs878854463
NM_001110556.2(FLNA):c.720+8C>T
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro)
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) rs202152952
NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile) rs782811927
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) rs782289803
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110556.2(FLNA):c.7275T>C (p.His2425=) rs781857682
NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=) rs782750091
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg) rs199677057
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) rs1460574102
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) rs373103712
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) rs878854464
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409
NM_001110556.2(FLNA):c.7553-10T>C rs782156724
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=)
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr) rs886038966
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545
NM_001110556.2(FLNA):c.7756+8A>G rs201663443
NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val) rs782637786
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly)
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) rs1172505050
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile)
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001110556.2(FLNA):c.869-7C>T rs143311779
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001110556.2(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001110556.2(FLNA):c.957C>T (p.Tyr319=) rs373561030
NM_001110556.2(FLNA):c.958G>A (p.Val320Met)
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly) rs1064816
NM_001110556.2(FLNA):c.988-10C>T
NM_001110556.2(FLNA):c.999C>T (p.Thr333=) rs1167180795
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001110792.2(MECP2):c.140_143AGAA[1] (p.Glu49fs) rs267608426
NM_001111125.3(IQSEC2):c.1000-9C>T rs1556864744
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs)
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=)
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter)
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=) rs782503727
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) rs1057522131
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=) rs1556880287
NM_001111125.3(IQSEC2):c.1401+4A>G rs1556864509
NM_001111125.3(IQSEC2):c.1402-10C>A rs183644900
NM_001111125.3(IQSEC2):c.1402-15dup
NM_001111125.3(IQSEC2):c.1436_1603del (p.Leu479_Thr535delinsPro) rs1556863457
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His)
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu)
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs)
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs) rs1556863492
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=) rs782768601
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter) rs1569302816
NM_001111125.3(IQSEC2):c.1592G>A (p.Arg531Gln) rs149027201
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu)
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs) rs1556863398
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=)
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala) rs1556863347
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1688G>A (p.Arg563Gln)
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp) rs1569302404
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln)
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) rs782547252
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn)
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs)
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu)
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=) rs1556862965
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=)
NM_001111125.3(IQSEC2):c.2459+3G>A rs1204856744
NM_001111125.3(IQSEC2):c.2460-2A>G
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=) rs1556880350
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=)
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His)
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln)
NM_001111125.3(IQSEC2):c.2750-9C>T rs1556861395
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=)
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372
NM_001111125.3(IQSEC2):c.2781_2783CCT[1] (p.Leu929del)
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=)
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) rs377545286
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2890-6G>A rs184248834
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) rs1556860937
NM_001111125.3(IQSEC2):c.294C>T (p.His98=) rs1556880235
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs)
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=) rs781862515
NM_001111125.3(IQSEC2):c.3164G>A (p.Arg1055Gln)
NM_001111125.3(IQSEC2):c.3223G>A (p.Asp1075Asn)
NM_001111125.3(IQSEC2):c.3307C>T (p.Arg1103Trp)
NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser)
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) rs374220843
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=)
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542
NM_001111125.3(IQSEC2):c.3501+7G>T
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
NM_001111125.3(IQSEC2):c.3546T>G (p.Pro1182=)
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=)
NM_001111125.3(IQSEC2):c.355C>G (p.Arg119Gly)
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=)
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933
NM_001111125.3(IQSEC2):c.3717_3719CCA[6] (p.His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr) rs1290683569
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630
NM_001111125.3(IQSEC2):c.3832G>A (p.Ala1278Thr)
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu) rs1414926823
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) rs1057521625
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=)
NM_001111125.3(IQSEC2):c.392G>C (p.Arg131Pro) rs1556880174
NM_001111125.3(IQSEC2):c.3944_3946del (p.Pro1315_Val1316delinsLeu) rs1569291523
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=) rs1556880172
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) rs1057521942
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118
NM_001111125.3(IQSEC2):c.4033C>T (p.Arg1345Trp)
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=)
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser) rs1556859040
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His) rs1569291207
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=)
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs)
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=) rs1556858970
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=) rs1556880144
NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys) rs1556858946
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs) rs1556858912
NM_001111125.3(IQSEC2):c.446C>T (p.Ala149Val)
NM_001111125.3(IQSEC2):c.454C>G (p.Arg152Gly)
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met)
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=) rs1556880086
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs)
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891
NM_001111125.3(IQSEC2):c.566C>T (p.Ser189Leu)
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394
NM_001111125.3(IQSEC2):c.590G>T (p.Arg197Leu)
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser) rs1037744173
NM_001111125.3(IQSEC2):c.659G>T (p.Gly220Val)
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=)
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=) rs1411580863
NM_001111125.3(IQSEC2):c.708-3C>T rs781873807
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His) rs368559547
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286
NM_001111125.3(IQSEC2):c.848G>C (p.Gly283Ala)
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602
NM_001111125.3(IQSEC2):c.863del (p.Val288fs) rs1556865060
NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser)
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=) rs782062867
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759
NM_001122606.1(LAMP2):c.1094-2717G>A rs1556078130
NM_001122606.1(LAMP2):c.1094-2739T>C rs752231323
NM_001122606.1(LAMP2):c.1094-2790G>A rs1029569080
NM_001122606.1(LAMP2):c.1094-2804C>A rs1006753991
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=)
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser)
NM_001123385.2(BCOR):c.1287G>A (p.Lys429=)
NM_001123385.2(BCOR):c.1391C>T (p.Thr464Met) rs749999323
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile)
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser)
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr)
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp)
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) rs764515953
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=) rs758579970
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=)
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) rs200732803
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) rs140693978
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile)
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser) rs61744882
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu)
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014
NM_001123385.2(BCOR):c.2514del (p.Lys839fs)
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=)
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala) rs143119333
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) rs527732438
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=)
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=) rs3810693
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs)
NM_001123385.2(BCOR):c.285A>G (p.Gly95=)
NM_001123385.2(BCOR):c.2916C>T (p.Tyr972=)
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_001123385.2(BCOR):c.300A>G (p.Lys100=)
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=) rs190344757
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys)
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs)
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) rs1226506629
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=)
NM_001123385.2(BCOR):c.3378C>T (p.His1126=)
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) rs1555915785
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) rs1555915763
NM_001123385.2(BCOR):c.3463del (p.Asp1155fs)
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg)
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs)
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) rs775994643
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) rs769057299
NM_001123385.2(BCOR):c.3669G>A (p.Ser1223=)
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) rs140897453
NM_001123385.2(BCOR):c.3847+7G>A rs142686469
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) rs780412607
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly)
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) rs1033092772
NM_001123385.2(BCOR):c.453A>G (p.Thr151=) rs1450768568
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=)
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) rs1459702445
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) rs760093247
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile)
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter)
NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=) rs113588421
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=)
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) rs933611569
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) rs587778100
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) rs777945715
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) rs143697110
NM_001123385.2(BCOR):c.711C>T (p.Val237=) rs727503827
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys)
NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs)
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu)
NM_001123385.2(BCOR):c.946C>T (p.Pro316Ser)
NM_001123385.2(BCOR):c.978G>A (p.Pro326=) rs751650335
NM_001123385.2(BCOR):c.982del (p.Asp328fs)
NM_001142386.3(PDK3):c.1077+8G>A
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr)
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.474C>T (p.Arg158=)
NM_001142386.3(PDK3):c.486C>T (p.Arg162=)
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=)
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.751-10A>G rs372774822
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu)
NM_001167.3(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.3(XIAP):c.115G>T (p.Gly39Cys)
NM_001167.3(XIAP):c.1408A>T (p.Thr470Ser)
NM_001167.3(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.3(XIAP):c.276T>C (p.Phe92=) rs45575532
NM_001167.3(XIAP):c.309G>A (p.Thr103=) rs140230812
NM_001167.3(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.3(XIAP):c.435G>T (p.Gln145His) rs759909620
NM_001167.3(XIAP):c.455C>G (p.Thr152Ser) rs150317928
NM_001167.3(XIAP):c.562G>A (p.Gly188Arg)
NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.683T>G (p.Phe228Cys) rs140973844
NM_001167.3(XIAP):c.688G>A (p.Val230Ile) rs144884904
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.3(XIAP):c.73G>C (p.Glu25Gln) rs781204574
NM_001167.3(XIAP):c.769C>G (p.Pro257Ala) rs138783302
NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) rs777303823
NM_001167.3(XIAP):c.878-5C>T rs367801081
NM_001167.3(XIAP):c.955C>T (p.Gln319Ter)
NM_001167.3(XIAP):c.978-10_978-4del
NM_001167.3(XIAP):c.978-9A>G
NM_001167.3(XIAP):c.978G>A (p.Gly326=)
NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)
NM_001167.4(XIAP):c.210_213AGAT[3] (p.Trp73Ter)
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)
NM_001167.4(XIAP):c.838A>C (p.Asn280His)
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro)
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His)
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=)
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter)
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=)
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=)
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=)
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs)
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) rs1569314304
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs)
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter)
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu)
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2289-2A>G
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly)
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile)
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=)
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe) rs756871980
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs)
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly) rs773732791
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His)
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg)
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu)
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser)
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
NM_001184880.2(PCDH19):c.2616+1G>A
NM_001184880.2(PCDH19):c.2617-1G>A
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
NM_001184880.2(PCDH19):c.2676-10T>G
NM_001184880.2(PCDH19):c.2676-6A>G
NM_001184880.2(PCDH19):c.2676-8C>A
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp)
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp)
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=)
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser)
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His)
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser)
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=)
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly)
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs)
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.533del (p.Ile178fs)
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val)
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.2(PCDH19):c.573G>C (p.Val191=)
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
NM_001184880.2(PCDH19):c.687del (p.Asp230fs)
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs)
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.2(PCDH19):c.894C>T (p.Val298=)
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=)
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala)
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile)
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=)
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter)
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly)
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs)
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs)
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile)
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg)
NM_001323289.2(CDKL5):c.198_199TC[1] (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=)
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs)
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=)
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr)
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser)
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2376+4dup
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg)
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile)
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys)
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro)
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)
NM_001323289.2(CDKL5):c.464-1G>C
NM_001323289.2(CDKL5):c.464-9A>G rs374030184
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)
NM_001323289.2(CDKL5):c.554+10C>T
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr)
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.