ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3178
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.206159485A>C
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000003.12:g.58433858A>G rs373907802
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000011.10:g.126269056C>A
NC_000011.10:g.67606846G>T
NC_000011.10:g.67606931T>C
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NC_000019.10:g.5903990A>G
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_?)dup
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.10:g.(?_152954010)_(153141311_?)dup
NC_000023.10:g.(?_152990712)_(153009199_?)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.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_17393861)_(18671684_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_24483553)_(24557301_?)dup
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.(?_70348964)_(70350064_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
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.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_99551255)_(99926004_?)dup
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_100646303)_(100671007_?)dup
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_135985483)_(136024503_?)dup
NC_000023.11:g.(?_18564457)_(18653564_?)dup
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.(?_38352331)_(38352793_?)dup
NC_000023.11:g.(?_40581046)_(40605775_?)dup
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*12C>T
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*287G>A
NM_000033.4(ABCD1):c.*334C>G
NM_000033.4(ABCD1):c.*360C>T
NM_000033.4(ABCD1):c.*409C>G
NM_000033.4(ABCD1):c.*412T>C rs1057515815
NM_000033.4(ABCD1):c.*450T>A
NM_000033.4(ABCD1):c.*476A>G
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*530G>A rs67211405
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*621C>T
NM_000033.4(ABCD1):c.*767C>T
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T
NM_000033.4(ABCD1):c.*805G>C
NM_000033.4(ABCD1):c.*825C>T
NM_000033.4(ABCD1):c.*830A>G
NM_000033.4(ABCD1):c.*831G>T
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*901G>A
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.*911G>A
NM_000033.4(ABCD1):c.*948C>T
NM_000033.4(ABCD1):c.*969A>G
NM_000033.4(ABCD1):c.*980T>C
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser)
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) rs1603234474
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
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.1198G>A (p.Glu400Lys)
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
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.1531_1536del (p.Cys511_Gly512del)
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
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>G (p.Pro543Arg)
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
NM_000033.4(ABCD1):c.1743_1745CGT[1] (p.Val583del) rs1557054859
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.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) rs782583464
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) rs1603236153
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.22C>A (p.Arg8=)
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) rs1557052298
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) rs1603232005
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) rs1603232050
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) rs1557052459
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.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) rs1603232171
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033
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.839G>A (p.Arg280His)
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
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.881C>T (p.Ala294Val)
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
NM_000033.4(ABCD1):c.900+7C>T
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.988_1005del (p.Leu330_Met335del) rs1603233113
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
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.1714G>A (p.Gly572Arg)
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472
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.1850A>G (p.Asp617Gly)
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
NM_000052.7(ATP7A):c.1945_1946+2dup
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466
NM_000052.7(ATP7A):c.2019_2021dup (p.Met674_Asp675insIle) rs1569549885
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170
NM_000052.7(ATP7A):c.2172+2C>T
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014
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.2365G>T (p.Val789Leu)
NM_000052.7(ATP7A):c.2406+6G>A
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
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.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109
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) rs1341604631
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
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.502G>A (p.Ala168Thr) rs781838499
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
NM_000108.5(DLD):c.*1027T>G
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1145A>T
NM_000108.5(DLD):c.*1231A>G
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*1401G>T
NM_000108.5(DLD):c.*1422C>T
NM_000108.5(DLD):c.*1505C>T
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1791_*1794del rs760145994
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*374G>T
NM_000108.5(DLD):c.*394A>G
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*739G>A
NM_000108.5(DLD):c.*845G>A
NM_000108.5(DLD):c.*898C>T
NM_000108.5(DLD):c.-10C>T
NM_000108.5(DLD):c.-8G>T rs372155330
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.30C>A (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000166.6(GJB1):c.*22C>T
NM_000166.6(GJB1):c.*277A>G
NM_000166.6(GJB1):c.*402G>A
NM_000166.6(GJB1):c.*443G>A
NM_000166.6(GJB1):c.*50G>C
NM_000166.6(GJB1):c.-102G>A
NM_000166.6(GJB1):c.-128G>A rs1057515983
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) rs1602750626
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) rs1602750635
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
NM_000240.3(MAOA):c.260A>G (p.Glu87Gly) rs747229681
NM_000240.3(MAOA):c.3G>A (p.Met1Ile) rs1601921232
NM_000240.3(MAOA):c.402G>A (p.Met134Ile) rs771740634
NM_000240.3(MAOA):c.890G>A (p.Arg297Gln) rs780647851
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
NM_000252.2(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.2(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
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.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.233A>T (p.Asp78Val) rs782215492
NM_000252.2(MTM1):c.481G>A (p.Val161Met) rs782744530
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.2(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.2(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.2(MTM1):c.65C>T (p.Thr22Met) rs781886721
NM_000252.2(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.2(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
NM_000252.3(MTM1):c.678+6T>A
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)
NM_000252.3(MTM1):c.788T>G (p.Val263Gly)
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg)
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) rs1569460215
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) rs1602791150
NM_000276.4(OCRL):c.1467-3C>G rs779822028
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.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.4(OCRL):c.40-5C>T rs201211377
NM_000276.4(OCRL):c.746T>G (p.Val249Gly) rs1602783417
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)
NM_000284.4(PDHA1):c.*1297G>A
NM_000284.4(PDHA1):c.*1306G>A
NM_000284.4(PDHA1):c.*1347C>T
NM_000284.4(PDHA1):c.*1376C>T
NM_000284.4(PDHA1):c.*1458C>T
NM_000284.4(PDHA1):c.*1624T>C
NM_000284.4(PDHA1):c.*1779A>T
NM_000284.4(PDHA1):c.*198G>A
NM_000284.4(PDHA1):c.*321C>T
NM_000284.4(PDHA1):c.*349A>G
NM_000284.4(PDHA1):c.*432C>T
NM_000284.4(PDHA1):c.*549A>G
NM_000284.4(PDHA1):c.*575T>C
NM_000284.4(PDHA1):c.*729G>A
NM_000284.4(PDHA1):c.-79C>T
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000330.4(RS1):c.184+3119G>A rs762576315
NM_000330.4(RS1):c.184+3136A>T
NM_000330.4(RS1):c.184+3170G>A
NM_000330.4(RS1):c.184+3231A>C
NM_000330.4(RS1):c.185-3128G>A
NM_000330.4(RS1):c.185-3212G>A
NM_000330.4(RS1):c.185-3221G>A
NM_000330.4(RS1):c.185-3261C>T
NM_000330.4(RS1):c.326+1106del
NM_000330.4(RS1):c.326+1151T>C
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser) rs782395663
NM_000489.5(ATRX):c.1111G>C (p.Val371Leu) rs782128117
NM_000489.5(ATRX):c.1130C>T (p.Ala377Val) rs781955237
NM_000489.5(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.5(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.5(ATRX):c.1645A>G (p.Ser549Gly) rs148513102
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) rs782080475
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.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.5(ATRX):c.2150C>T (p.Pro717Leu) rs372617572
NM_000489.5(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179
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.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) rs1603220590
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) rs1603220048
NM_000489.5(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu) rs782162927
NM_000489.5(ATRX):c.2658G>C (p.Glu886Asp) rs141180098
NM_000489.5(ATRX):c.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.5(ATRX):c.2782G>C (p.Glu928Gln) rs797044792
NM_000489.5(ATRX):c.278A>T (p.Asp93Val) rs1064796774
NM_000489.5(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val) rs1271635013
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
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.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val) rs782554626
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.5(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G rs1603240656
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.4177G>C (p.Val1393Leu) rs147331649
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn) rs1603095546
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
NM_000489.5(ATRX):c.4332_4334AGA[1] (p.Glu1448del) rs1356648720
NM_000489.5(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
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.4366G>A (p.Glu1456Lys) rs782646619
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000489.5(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.5(ATRX):c.5124G>T (p.Leu1708Phe) rs1602978896
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.5(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu) rs782773652
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215
NM_000489.5(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
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.1057A>G (p.Ile353Val)
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val)
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val)
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys)
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr)
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
NM_000489.6(ATRX):c.189+5G>A
NM_000489.6(ATRX):c.18G>A (p.Met6Ile)
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del)
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly)
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
NM_000489.6(ATRX):c.2521A>G (p.Ile841Val)
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
NM_000489.6(ATRX):c.2609C>T (p.Thr870Ile)
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly)
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.3158C>A (p.Thr1053Asn)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=)
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp)
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del)
NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met)
NM_000489.6(ATRX):c.370+5T>C
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly)
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys)
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly)
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val)
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly)
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.6674A>G (p.Lys2225Arg)
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
NM_000489.6(ATRX):c.7168A>G (p.Ile2390Val)
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro)
NM_000531.6(OTC):c.*105C>T rs1036076773
NM_000531.6(OTC):c.*175T>C
NM_000531.6(OTC):c.*276A>G rs1016109235
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)
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) rs1602014500
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.216+10A>G
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
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.307C>T (p.Leu103Phe) rs779154479
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498
NM_000531.6(OTC):c.401T>C (p.Met134Thr)
NM_000531.6(OTC):c.403G>C (p.Ala135Pro)
NM_000531.6(OTC):c.425T>G (p.Val142Gly)
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.485G>T (p.Gly162Val)
NM_000531.6(OTC):c.523G>A (p.Asp175Asn)
NM_000531.6(OTC):c.530T>G (p.Leu177Arg)
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.604C>G (p.His202Asp)
NM_000531.6(OTC):c.614T>A (p.Met205Lys)
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814G>A (p.Glu272Lys)
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
NM_000531.6(OTC):c.926_928AAG[1] (p.Glu310del)
NM_000531.6(OTC):c.953_955CTC[1] (p.Pro319del) rs1555976710
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) rs1569427243
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys) rs746949269
NM_000925.4(PDHB):c.*160A>G
NM_000925.4(PDHB):c.*173C>T
NM_000925.4(PDHB):c.*199T>G rs886058777
NM_000925.4(PDHB):c.*328A>G
NM_000925.4(PDHB):c.*360A>G rs886058776
NM_000925.4(PDHB):c.*365T>A
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*77C>T
NM_000925.4(PDHB):c.-12G>A
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.45C>G (p.Val15=)
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
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.1595C>A (p.Thr532Asn)
NM_001008537.3(NEXMIF):c.16G>T (p.Asp6Tyr) rs1569336346
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047
NM_001008537.3(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126
NM_001008537.3(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.3(NEXMIF):c.2404A>G (p.Asn802Asp) rs1003126361
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183
NM_001008537.3(NEXMIF):c.2527G>C (p.Gly843Arg) rs770067542
NM_001008537.3(NEXMIF):c.2570C>T (p.Pro857Leu) rs758329821
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.2723T>G (p.Ile908Arg) rs773043102
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val) rs779441513
NM_001008537.3(NEXMIF):c.3227C>A (p.Thr1076Asn)
NM_001008537.3(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr) rs1281329703
NM_001008537.3(NEXMIF):c.3574T>C (p.Ser1192Pro) rs1286509026
NM_001008537.3(NEXMIF):c.3653A>G (p.Gln1218Arg) rs946717276
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.3(NEXMIF):c.395C>T (p.Ser132Leu) rs1602212849
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4183A>T (p.Ile1395Phe)
NM_001008537.3(NEXMIF):c.4235G>T (p.Arg1412Leu)
NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr) rs774654591
NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile) rs145525836
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.911G>T (p.Gly304Val) rs376455886
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001015877.2(PHF6):c.310C>G (p.His104Asp)
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) rs1602716458
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) rs864309661
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu) rs138133927
NM_001032382.2(PQBP1):c.*8G>A
NM_001032382.2(PQBP1):c.642-9C>A
NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_001037811.2(HSD17B10):c.253G>A (p.Val85Met) rs1211736877
NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly)
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met) rs1556618832
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=) rs782370742
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) rs1603184929
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.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu) rs1603198044
NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys) rs1556616834
NM_001042537.1(SLC9A6):c.604A>G (p.Arg202Gly) rs796053280
NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=) rs781961294
NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr) rs796053281
NM_001042537.1(SLC9A6):c.680+3A>G rs372679456
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile) rs1556616995
NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp) rs1556614701
NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val) rs782677140
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu) rs1016216648
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.53A>G (p.Gln18Arg)
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly)
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) rs1603252573
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) rs1603246794
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) rs1603242504
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) rs1603242447
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) rs1603229932
NM_001081550.2(THOC2):c.4678-572_*18+1195del
NM_001097642.2(GJB1):c.-16-475C>G
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859
NM_001110556.2(FLNA):c.108_110GGA[1] (p.Glu37del)
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) rs781805670
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) rs782649138
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
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>A (p.Thr459Lys)
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) rs782682232
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) rs782262202
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) rs868994092
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
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.1609G>C (p.Val537Leu)
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.1654G>A (p.Val552Ile) rs863223619
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) rs781852373
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) rs1603362453
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) rs1603362451
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn)
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) rs782718606
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
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.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) rs1271495778
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly) rs374295965
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) rs924631524
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) rs782287086
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) rs781840723
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu)
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=)
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser) rs375038091
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys) rs1603362223
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser) rs1336740117
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.2281-3C>A rs1603361933
NM_001110556.2(FLNA):c.2281-6_2281-2dup
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.2361C>G (p.His787Gln) rs863223620
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser)
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804
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.2527G>A (p.Ala843Thr)
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr)
NM_001110556.2(FLNA):c.2566-6C>A
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240
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.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) rs1557178146
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.2825A>T (p.Gln942Leu)
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678
NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu)
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) rs781988041
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) rs782406278
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) rs781970327
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys) rs1222602089
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.3451A>G (p.Lys1151Glu)
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.3514C>G (p.Arg1172Gly) rs1557177743
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
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.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.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu)
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=)
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg) rs1557177601
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr)
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) rs782342052
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) rs782490288
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser)
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met)
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp)
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) rs1603360869
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) rs192337215
NM_001110556.2(FLNA):c.4303+7_4303+9del
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) rs863223617
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val) rs201886752
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.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile) rs188943867
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg) rs782276039
NM_001110556.2(FLNA):c.4474+3G>A
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln) rs782597696
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)
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.4710C>A (p.Ile1570=)
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) rs372729831
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) rs782314291
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu) rs782082407
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) rs1400230946
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His)
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met) rs1381802174
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg)
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.5116G>A (p.Gly1706Ser) rs781993685
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) rs1557176627
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile)
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) rs1363194253
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
NM_001110556.2(FLNA):c.5416+6T>G
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) rs782448596
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) rs886039107
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567
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.5786C>T (p.Pro1929Leu) rs782359458
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys) rs10458342
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) rs782401919
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser)
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) rs1603363256
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe) rs1223954254
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln)
NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) rs781956012
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
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.6307A>G (p.Arg2103Gly) rs370277156
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) rs782722036
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His) rs377052615
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) rs1557176052
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met)
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.6409G>A (p.Glu2137Lys)
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn) rs782477734
NM_001110556.2(FLNA):c.6502+8C>G rs1603359201
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr)
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu) rs1603359155
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
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.6776T>C (p.Phe2259Ser) rs1276647740
NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys)
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
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.6916G>A (p.Glu2306Lys) rs1603358960
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) rs1557175818
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) rs782310851
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=)
NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His) rs377274096
NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu)
NM_001110556.2(FLNA):c.7023+7C>T
NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys)
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.70C>T (p.Arg24Trp) rs1164930154
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) rs1557179587
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly) rs371563857
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu) rs782645927
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp) rs1557175461
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) rs878854463
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro) rs1603358629
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.7259T>C (p.Val2420Ala) rs782289803
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) rs1557175387
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.7450C>A (p.Arg2484Ser)
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile) rs782190081
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
NM_001110556.2(FLNA):c.7519A>G (p.Ile2507Val) rs971390304
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
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.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.7784A>C (p.His2595Pro) rs1603358284
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.7843A>G (p.Ser2615Gly)
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270
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) rs1430045418
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) rs1172505050
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile) rs1603363939
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
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.959T>G (p.Val320Gly) rs1064816
NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly)
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) rs371830740
NM_001110792.2(MECP2):c.*122del rs267608342
NM_001110792.2(MECP2):c.-27_-26delinsTT rs786205039
NM_001110792.2(MECP2):c.-31_-30AG[2] rs587783128
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) rs267608560
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) rs61752361
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) rs267608562
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) rs1557135746
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) rs267608563
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) rs786205032
NM_001110792.2(MECP2):c.1134_1136CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) rs1557135279
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) rs1557135441
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) rs1060499622
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) rs267608575
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) rs786205033
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) rs1557135259
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) rs267608579
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) rs267608581
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) rs267608594
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) rs267608343
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) rs61753000
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) rs63749034
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) rs1557135234
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) rs267608616
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) rs786205036
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) rs267608632
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) rs61754445
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) rs61754449
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) rs61754451
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) rs267608451
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) rs61755760
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) rs267608454
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) rs61748384
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) rs61748389
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) rs267608475
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) rs61748417
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) rs61754421
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) rs61749730
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) rs267608509
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) rs786205894
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) rs878853313
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) rs61750255
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) rs61751360
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) rs267608545
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) rs61751448
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001122606.1(LAMP2):c.*1924A>T rs761928368
NM_001122606.1(LAMP2):c.*2019A>G rs943561186
NM_001122606.1(LAMP2):c.*2122A>G rs765371462
NM_001122606.1(LAMP2):c.*2124del rs754879365
NM_001122606.1(LAMP2):c.*2333A>G rs778592348
NM_001122606.1(LAMP2):c.*508_*511GTTA[1] rs764018077
NM_001122606.1(LAMP2):c.*838C>A rs1057515737
NM_001122606.1(LAMP2):c.*850T>C rs975386272
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
NM_001122606.1(LAMP2):c.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
NM_001122606.1(LAMP2):c.1094-1844G>A rs763861761
NM_001122606.1(LAMP2):c.1094-1976A>C rs887326511
NM_001122606.1(LAMP2):c.1094-2005G>A rs1057515743
NM_001122606.1(LAMP2):c.1094-2044A>G rs1057515744
NM_001122606.1(LAMP2):c.1094-2111A>G rs41312757
NM_001122606.1(LAMP2):c.1094-2717G>A rs1556078130
NM_001122606.1(LAMP2):c.1094-2790G>A rs1029569080
NM_001122606.1(LAMP2):c.1094-2804C>A rs1006753991
NM_001122606.1(LAMP2):c.1094-549AT[8] rs753399289
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) rs1057515738
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser)
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile) rs1602152534
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser)
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) rs1602151728
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) rs764515953
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala)
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile)
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) rs781016038
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) rs527732438
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) rs1226506629
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg)
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly)
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) rs770784599
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) rs1033092772
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met)
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) rs1459702445
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
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.724G>A (p.Glu242Lys)
NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys)
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu)
NM_001123385.2(BCOR):c.938C>T (p.Pro313Leu)
NM_001126049.2(KLLN):c.-1039G>A rs587779999
NM_001126049.2(KLLN):c.-736G>C rs1554889801
NM_001126049.2(KLLN):c.-792C>T rs587779982
NM_001126049.2(KLLN):c.-828C>T rs786203674
NM_001135024.1(PDHX):c.115+15G>A rs886048246
NM_001135024.1(PDHX):c.115+8C>A
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.474C>T (p.Arg158=) rs756879455
NM_001142386.3(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_001142386.3(PDK3):c.486C>T (p.Arg162=) rs1479754596
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=) rs144345856
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu) rs1569227273
NM_001146702.1(KDM5C):c.4047-1C>T rs1602156447
NM_001166158.1(PDHX):c.-271G>T rs780153979
NM_001166159.1(NDUFS2):c.*330_*331GT[14] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[16] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[18] rs10629771
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro)
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) rs1318908420
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.1165C>G (p.Leu389Val)
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) 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.1321G>C (p.Val441Leu) rs200126728
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>A (p.Asp448Asn)
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=)
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val)
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr)
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro)
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg)
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val) rs796052818
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser)
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser)
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) rs763798306
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala)
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del)
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala)
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.1865G>T (p.Gly622Val)
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val)
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)
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) rs1335592289
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
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.2417C>T (p.Ser806Phe)
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.2479C>G (p.Arg827Gly) rs773732791
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His) rs371323886
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp)
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg) rs1602632480
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.2522G>T (p.Arg841Leu)
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg)
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys)
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) rs1602600456
NM_001184880.2(PCDH19):c.2676-10T>G
NM_001184880.2(PCDH19):c.2676-8C>A
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp)
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp)
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile) rs772106217
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser)
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp)
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys) rs1602567417
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro) rs1387075416
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=) rs376406896
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.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) rs1602566823
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
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.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=) rs753986660
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740
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.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu)
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup)
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu)
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys)
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn) rs1214373921
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala)
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser)
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser) rs1602638047
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn) rs1602637994
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly)
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys)
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
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.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly)
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro)
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del)
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser) rs1602637358
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile)
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338
NM_001185012.1(NDUFA2):c.-114T>A
NM_001193375.2(NDUFA11):c.314-1384dup rs1599691161
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) rs1569544754
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr) rs1192248368
NM_001322019.1(NDUFA10):c.-87A>C rs886055827
NM_001322019.1(NDUFA10):c.-92C>T rs559797625
NM_001322019.1(NDUFA10):c.-93G>T rs577432343
NM_001323289.2(CDKL5):c.-189C>T rs786204994
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro)
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
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.1266C>A (p.Asp422Glu) rs762708691
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile)
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp)
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) rs587783153
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His)
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)
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.1909G>C (p.Ala637Pro)
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala)
NM_001323289.2(CDKL5):c.2152+5G>T
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu)
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr) rs748459878
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser) rs1210870589
NM_001323289.2(CDKL5):c.2376+4dup
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His)
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg) rs1602298609
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala)
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
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.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp)
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp) rs1602230515
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=)
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His) rs1556347347
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) rs782248986
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val)
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu) rs1569441733
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val)
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=) rs1602179094
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro) rs1556301359
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) rs782577519
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr) rs1556301016
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter) rs1556300769
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His) rs1556300759
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His)
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val) rs377326713
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His)
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser) rs886044863
NM_001353921.2(ARHGEF9):c.31-29588A>G
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met)
NM_001353921.2(ARHGEF9):c.403-3C>T rs1602447219
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys) rs781955551
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly) rs1556388997
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) rs782139620
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr) rs1569491711
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro) rs1602360899
NM_001353921.2(ARHGEF9):c.815+5G>C
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser)
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=)
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) rs1569451962
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) rs1602300014
NM_001356.4(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_001363700.2(LIAS):c.299+1682_299+1690del rs776064587
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr)
NM_001377299.1(NDUFS2):c.662G>A (p.Arg221Gln)
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001379110.1(SLC9A6):c.-56-21C>A
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)
NM_001379110.1(SLC9A6):c.992-3T>C
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001866.3(COX7B):c.217A>G (p.Thr73Ala) rs1603367347
NM_001931.4(DLAT):c.-137G>A rs886047692
NM_001931.4(DLAT):c.-203C>T rs781987834
NM_001931.4(DLAT):c.-212C>G rs587656558
NM_001931.4(DLAT):c.-222C>T rs587750751
NM_001931.4(DLAT):c.-338T>C rs587698124
NM_001931.4(DLAT):c.-383T>A rs886047691
NM_001931.4(DLAT):c.-471C>T rs886047690
NM_001931.4(DLAT):c.-500C>T rs886047689
NM_001931.4(DLAT):c.-572G>A rs183456915
NM_001931.4(DLAT):c.-590G>A rs587721916
NM_001931.4(DLAT):c.-647C>A rs190887558
NM_001931.4(DLAT):c.-90G>C rs587665696
NM_001931.5(DLAT):c.*1318A>G rs757760280
NM_001931.5(DLAT):c.*1375T>C rs144371275
NM_001931.5(DLAT):c.*1595G>A rs184244244
NM_001931.5(DLAT):c.*168G>A rs77304693
NM_001931.5(DLAT):c.*1704A>G rs886047698
NM_001931.5(DLAT):c.*220T>C rs886047695
NM_001931.5(DLAT):c.*243T>C rs189254124
NM_001931.5(DLAT):c.*246A>G rs886047696
NM_001931.5(DLAT):c.*622C>A rs139429714
NM_001931.5(DLAT):c.*920A>G rs116895022
NM_001931.5(DLAT):c.*981G>A rs886047697
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
NM_001931.5(DLAT):c.1290+5G>A rs886047694
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)
NM_001931.5(DLAT):c.1399-13C>T rs374698306
NM_001931.5(DLAT):c.1692G>A (p.Thr564=) rs185907405
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val) rs371341957
NM_001931.5(DLAT):c.210G>C (p.Arg70=) rs782739576
NM_001931.5(DLAT):c.318C>A (p.Gly106=) rs201070254
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)
NM_001931.5(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_001931.5(DLAT):c.402T>C (p.Thr134=) rs886047693
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter) rs781991355
NM_001931.5(DLAT):c.506+11C>T rs77846695
NM_001931.5(DLAT):c.506+12G>A rs372355218
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.5(DLAT):c.606G>A (p.Ser202=) rs148153443
NM_001931.5(DLAT):c.828G>T (p.Leu276=) rs199835215
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu) rs782527135
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala) rs78320677
NM_002025.4(AFF2):c.*4554C>G rs864321652
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283
NM_002025.4(AFF2):c.3267+5G>A rs374064624
NM_002139.4(RBMX):c.389-8T>C rs181515589
NM_002294.3(LAMP2):c.*1413A>G
NM_002294.3(LAMP2):c.*2147T>C
NM_002294.3(LAMP2):c.*238G>A
NM_002294.3(LAMP2):c.*2476C>T
NM_002294.3(LAMP2):c.*2955A>G
NM_002294.3(LAMP2):c.*3263T>C
NM_002294.3(LAMP2):c.*3276C>T
NM_002294.3(LAMP2):c.*3413T>C
NM_002294.3(LAMP2):c.*3488C>T
NM_002294.3(LAMP2):c.*3563T>G
NM_002294.3(LAMP2):c.*4004C>T
NM_002294.3(LAMP2):c.*4006G>T
NM_002294.3(LAMP2):c.*4664A>G
NM_002294.3(LAMP2):c.*4757A>G
NM_002294.3(LAMP2):c.*975A>G
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
NM_002294.3(LAMP2):c.1094-1G>C
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
NM_002294.3(LAMP2):c.65-6A>G
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.928+6C>T
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe)
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
NM_002488.4(NDUFA2):c.-145T>A rs886060017
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.4(NDUFA2):c.-53A>G rs747127939
NM_002488.4(NDUFA2):c.-63G>A rs748460855
NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) rs200255683
NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416
NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) rs35672074
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A
NM_002495.4(NDUFS4):c.-22C>A rs144843461
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.350+6T>C
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333
NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) rs1425486695
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)
NM_002496.3(NDUFS8):c.-76C>T rs544094420
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.*26T>G rs886048592
NM_002496.4(NDUFS8):c.*40A>G rs61329983
NM_002496.4(NDUFS8):c.*44C>T rs201815115
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.4(NDUFS8):c.199+5G>A rs373522607
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611
NM_002496.4(NDUFS8):c.200-14C>T rs373128833
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met)
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938
NM_002496.4(NDUFS8):c.501+12C>G rs372004236
NM_002496.4(NDUFS8):c.502-10C>T rs369961682
NM_002496.4(NDUFS8):c.502-13C>T rs199793417
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) rs763066236
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961
NM_002547.3(OPHN1):c.702+11A>C rs375325266
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dup rs1057515728
NM_002764.4(PRPS1):c.*137C>T
NM_002764.4(PRPS1):c.*389G>A
NM_002764.4(PRPS1):c.*423T>A
NM_002764.4(PRPS1):c.*508G>C
NM_002764.4(PRPS1):c.*539G>C
NM_002764.4(PRPS1):c.*539G>T
NM_002764.4(PRPS1):c.*608C>T
NM_002764.4(PRPS1):c.*726C>T
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) rs1602902855
NM_002968.2(SALL1):c.602A>G (p.Gln201Arg) rs775143619
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.2714-47C>T rs786204995
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) rs369009993
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) rs267608664
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249
NM_003159.2(CDKL5):c.3037_3046del (p.Val1013fs) rs1363899499
NM_003413.4(ZIC3):c.*1171_*1173del rs1057515786
NM_003413.4(ZIC3):c.*1237A>T rs772508899
NM_003413.4(ZIC3):c.*1362T>G
NM_003413.4(ZIC3):c.*1492T>C
NM_003413.4(ZIC3):c.*153A>G
NM_003413.4(ZIC3):c.*1540G>A rs184855783
NM_003413.4(ZIC3):c.*1581G>A
NM_003413.4(ZIC3):c.*1715A>G rs1057515787
NM_003413.4(ZIC3):c.*260T>C
NM_003413.4(ZIC3):c.*750A>G
NM_003413.4(ZIC3):c.*798_*802del rs899320157
NM_003413.4(ZIC3):c.-169A>C
NM_003413.4(ZIC3):c.-335C>T
NM_003413.4(ZIC3):c.-424C>A
NM_003413.4(ZIC3):c.-479C>T rs1022475218
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) rs78870836
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
NM_003477.3(PDHX):c.*259G>T rs771515806
NM_003477.3(PDHX):c.*331G>C rs555691861
NM_003477.3(PDHX):c.*650G>A rs886048249
NM_003477.3(PDHX):c.*662A>T
NM_003477.3(PDHX):c.*742C>T
NM_003477.3(PDHX):c.*743G>A rs577162977
NM_003477.3(PDHX):c.*763G>A rs886048250
NM_003477.3(PDHX):c.*783G>T
NM_003477.3(PDHX):c.*821A>T
NM_003477.3(PDHX):c.*874A>G
NM_003477.3(PDHX):c.-27C>T
NM_003477.3(PDHX):c.-7C>T rs751680964
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
NM_003477.3(PDHX):c.161-6T>C rs200438675
NM_003477.3(PDHX):c.242-4G>A rs199583315
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.3(PDHX):c.542+10T>C rs368960575
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
NM_003588.3(CUL4B):c.1160A>G (p.Gln387Arg) rs1556213268
NM_003588.3(CUL4B):c.117A>T (p.Arg39Ser) rs757541076
NM_003588.3(CUL4B):c.2577G>C (p.Lys859Asn) rs1556181426
NM_003588.3(CUL4B):c.348G>T (p.Gln116His) rs755306871
NM_003588.3(CUL4B):c.373C>G (p.Leu125Val) rs760294805
NM_003588.3(CUL4B):c.423_431del rs754330779
NM_003588.3(CUL4B):c.943G>A (p.Val315Ile) rs367660624
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr) rs1602883262
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) rs1225998238
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.3(OFD1):c.2028G>A (p.Leu676=)
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) rs750984782
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr) rs780934031
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp)
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.276T>A (p.Ser92=)
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met)
NM_003611.3(OFD1):c.29T>C (p.Val10Ala)
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.679A>G (p.Ile227Val)
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr)
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly)
NM_003688.3(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_003688.3(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_003688.3(CASK):c.2414G>A (p.Ser805Asn) rs1602220170
NM_003688.3(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) rs1057519032
NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser) rs1569398326
NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.4(NDUFA10):c.*1011A>G rs575477219
NM_004544.4(NDUFA10):c.*1047T>C
NM_004544.4(NDUFA10):c.*1057T>G
NM_004544.4(NDUFA10):c.*105G>A rs886055825
NM_004544.4(NDUFA10):c.*1124C>T
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1161C>T
NM_004544.4(NDUFA10):c.*1198G>A
NM_004544.4(NDUFA10):c.*1206G>A
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1214C>T rs546735567
NM_004544.4(NDUFA10):c.*1245G>A
NM_004544.4(NDUFA10):c.*1262C>T rs759194775
NM_004544.4(NDUFA10):c.*1303C>T
NM_004544.4(NDUFA10):c.*1391C>T
NM_004544.4(NDUFA10):c.*1453G>A
NM_004544.4(NDUFA10):c.*1482C>G
NM_004544.4(NDUFA10):c.*1486C>T
NM_004544.4(NDUFA10):c.*1586A>G
NM_004544.4(NDUFA10):c.*1594G>A
NM_004544.4(NDUFA10):c.*1665C>A
NM_004544.4(NDUFA10):c.*1702G>A
NM_004544.4(NDUFA10):c.*1709T>C
NM_004544.4(NDUFA10):c.*183C>T
NM_004544.4(NDUFA10):c.*1879G>A
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*1915G>A rs144590599
NM_004544.4(NDUFA10):c.*1927G>C
NM_004544.4(NDUFA10):c.*1930C>G
NM_004544.4(NDUFA10):c.*1943A>G
NM_004544.4(NDUFA10):c.*1992C>T
NM_004544.4(NDUFA10):c.*2009G>C
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C
NM_004544.4(NDUFA10):c.*2079A>G
NM_004544.4(NDUFA10):c.*2111G>A rs752139055
NM_004544.4(NDUFA10):c.*2133A>G
NM_004544.4(NDUFA10):c.*2136T>C
NM_004544.4(NDUFA10):c.*2149C>T rs570872300
NM_004544.4(NDUFA10):c.*2192T>A rs886055817
NM_004544.4(NDUFA10):c.*2242T>C
NM_004544.4(NDUFA10):c.*2297T>G rs773090030
NM_004544.4(NDUFA10):c.*2350G>A
NM_004544.4(NDUFA10):c.*2382C>A
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2455C>G
NM_004544.4(NDUFA10):c.*2648C>T
NM_004544.4(NDUFA10):c.*2649G>A rs886055815
NM_004544.4(NDUFA10):c.*2659A>C
NM_004544.4(NDUFA10):c.*2685C>A rs114807372
NM_004544.4(NDUFA10):c.*2838C>A
NM_004544.4(NDUFA10):c.*2900G>A
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C
NM_004544.4(NDUFA10):c.*3052G>A
NM_004544.4(NDUFA10):c.*3067C>T rs564992184
NM_004544.4(NDUFA10):c.*3095A>G
NM_004544.4(NDUFA10):c.*3098A>T rs886055813
NM_004544.4(NDUFA10):c.*3113G>A rs886055812
NM_004544.4(NDUFA10):c.*3141C>T rs144864637
NM_004544.4(NDUFA10):c.*3143C>T
NM_004544.4(NDUFA10):c.*3175T>G
NM_004544.4(NDUFA10):c.*3205G>A rs886055811
NM_004544.4(NDUFA10):c.*3301C>T
NM_004544.4(NDUFA10):c.*3347C>T
NM_004544.4(NDUFA10):c.*3403A>G
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3409G>A
NM_004544.4(NDUFA10):c.*3456T>G
NM_004544.4(NDUFA10):c.*3490G>C
NM_004544.4(NDUFA10):c.*3557G>A rs149933652
NM_004544.4(NDUFA10):c.*361A>G rs778261754
NM_004544.4(NDUFA10):c.*3711A>G
NM_004544.4(NDUFA10):c.*3724G>A
NM_004544.4(NDUFA10):c.*372C>T
NM_004544.4(NDUFA10):c.*389C>T rs539829771
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*428C>T
NM_004544.4(NDUFA10):c.*435A>G
NM_004544.4(NDUFA10):c.*445C>G
NM_004544.4(NDUFA10):c.*489A>G rs886055824
NM_004544.4(NDUFA10):c.*546G>A rs192485848
NM_004544.4(NDUFA10):c.*548G>C
NM_004544.4(NDUFA10):c.*632G>A
NM_004544.4(NDUFA10):c.*647C>T rs116254382
NM_004544.4(NDUFA10):c.*679A>G
NM_004544.4(NDUFA10):c.*732T>G
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*765C>T
NM_004544.4(NDUFA10):c.*804T>C
NM_004544.4(NDUFA10):c.*857G>C
NM_004544.4(NDUFA10):c.*861C>G
NM_004544.4(NDUFA10):c.*925C>G rs149563558
NM_004544.4(NDUFA10):c.-34C>T
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.-38T>G rs374970309
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)
NM_004544.4(NDUFA10):c.460+5A>G
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg)
NM_004544.4(NDUFA10):c.548-9A>G rs147876332
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.4(NDUFA10):c.558C>T (p.His186=)
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=)
NM_004544.4(NDUFA10):c.749+11C>T rs200760509
NM_004544.4(NDUFA10):c.749+5G>A
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly)
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)
NM_004550.4(NDUFS2):c.*108A>T rs191955041
NM_004550.4(NDUFS2):c.*108_*109dup rs886045468
NM_004550.4(NDUFS2):c.*187G>A rs886045469
NM_004550.4(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_004550.4(NDUFS2):c.-156G>A rs886045457
NM_004550.4(NDUFS2):c.-159C>A rs886045456
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.-218G>A rs563669084
NM_004550.4(NDUFS2):c.-223C>G rs74124661
NM_004550.4(NDUFS2):c.-28C>T rs886045458
NM_004550.4(NDUFS2):c.-298C>G rs41270845
NM_004550.4(NDUFS2):c.-346G>A rs189165754
NM_004550.4(NDUFS2):c.-388G>A rs3813623
NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp) rs144411579
NM_004550.4(NDUFS2):c.117A>G (p.Pro39=) rs145578059
NM_004550.4(NDUFS2):c.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1212G>A (p.Lys404=) rs145959971
NM_004550.4(NDUFS2):c.1213-9del rs750838845
NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) rs886045464
NM_004550.4(NDUFS2):c.1354+10C>A rs201275792
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.1355-4C>G rs147235167
NM_004550.4(NDUFS2):c.1371A>G (p.Val457=) rs149953813
NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) rs569128565
NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) rs754241926
NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) rs140324736
NM_004550.4(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
NM_004550.4(NDUFS2):c.540G>A (p.Leu180=) rs41428447
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dup rs776704187
NM_004550.4(NDUFS2):c.866+8G>A rs142594036
NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_004550.4(NDUFS2):c.934G>C (p.Asp312His) rs1482687384
NM_004550.4(NDUFS2):c.95+14C>T rs751472475
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_004551.2(NDUFS3):c.-30C>T rs375483884
NM_004551.2(NDUFS3):c.-41T>C rs750965789
NM_004551.3(NDUFS3):c.*32G>A
NM_004551.3(NDUFS3):c.*39C>T
NM_004551.3(NDUFS3):c.-15C>G
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.381+6T>C rs377579231
NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp) rs142248674
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839
NM_004551.3(NDUFS3):c.628-7C>T rs11039306
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.5(NDUFS6):c.*15C>T rs200445799
NM_004553.5(NDUFS6):c.*27A>G rs370587409
NM_004553.5(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274
NM_004553.5(NDUFS6):c.198C>T (p.Asn66=) rs140887831
NM_004553.5(NDUFS6):c.24C>T (p.Cys8=) rs886060511
NM_004553.5(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886
NM_004553.5(NDUFS6):c.27G>C (p.Arg9=) rs886060512
NM_004553.5(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_004553.6(NDUFS6):c.*46C>T
NM_004553.6(NDUFS6):c.*99G>C
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu) rs1555926370
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val) rs1569232184
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val) rs1569216043
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg) rs1569215936
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769
NM_004586.3(RPS6KA3):c.999+2dup
NM_004595.5(SMS):c.13C>G (p.Arg5Gly)
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790
NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn) rs367907623
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val) rs1602504701
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn) rs1602549992
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814
NM_004606.5(TAF1):c.421C>G (p.Pro141Ala) rs1602451776
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser) rs1602572645
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu) rs1602627327
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly) rs1602459601
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*92C>G rs62621672
NM_004992.3(MECP2):c.-15C>T rs267608324
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_004992.4(MECP2):c.-212_-205= rs782107551
NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln)
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005002.5(NDUFA9):c.897-115A>G rs185994125
NM_005006.7(NDUFS1):c.*1077A>T
NM_005006.7(NDUFS1):c.*130A>C
NM_005006.7(NDUFS1):c.*151T>C rs533179154
NM_005006.7(NDUFS1):c.*27C>T rs369746514
NM_005006.7(NDUFS1):c.*341A>G
NM_005006.7(NDUFS1):c.*426T>G
NM_005006.7(NDUFS1):c.*438C>T rs561980718
NM_005006.7(NDUFS1):c.*459A>G
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*561T>C rs146538309
NM_005006.7(NDUFS1):c.*641A>G rs886055501
NM_005006.7(NDUFS1):c.*756A>T rs755460274
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A
NM_005006.7(NDUFS1):c.*866A>C rs749790811
NM_005006.7(NDUFS1):c.*938C>T
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.*966A>G rs755776989
NM_005006.7(NDUFS1):c.-101G>A
NM_005006.7(NDUFS1):c.-31A>G
NM_005006.7(NDUFS1):c.-38T>G
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364
NM_005006.7(NDUFS1):c.-61G>C
NM_005006.7(NDUFS1):c.-64T>C
NM_005006.7(NDUFS1):c.-73C>A
NM_005006.7(NDUFS1):c.-75A>G
NM_005006.7(NDUFS1):c.-76G>A
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly) rs1127567
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) rs777102927
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.1554-1G>A rs1056433452
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) rs765677840
NM_005006.7(NDUFS1):c.261+6T>C
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-25dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275
NM_005006.7(NDUFS1):c.421-7A>G rs192949406
NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr)
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)
NM_005006.7(NDUFS1):c.737+1G>A rs935776676
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile)
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser) rs1602295395
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
NM_005120.3(MED12):c.1485+5G>A rs1006276729
NM_005120.3(MED12):c.1619G>A (p.Arg540His) rs774363039
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.3(MED12):c.1744+4C>T rs780750721
NM_005120.3(MED12):c.1744+5G>A rs368353373
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly) rs1569481250
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr)
NM_005120.3(MED12):c.2227-4G>A rs751157238
NM_005120.3(MED12):c.2305C>A (p.His769Asn)
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser) rs1602297729
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)
NM_005120.3(MED12):c.281C>T (p.Pro94Leu) rs1602293842
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3149G>A (p.Arg1050His)
NM_005120.3(MED12):c.3210-27C>T rs752463122
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
NM_005120.3(MED12):c.3691+4C>T rs373381746
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785
NM_005120.3(MED12):c.3762_3764AGG[1] (p.Gly1257del) rs1602300077
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser) rs776373565
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly)
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005120.3(MED12):c.4028G>A (p.Arg1343His) rs201044355
NM_005120.3(MED12):c.4048-1G>A
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly) rs961569982
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.3(MED12):c.4253+4G>A rs750162341
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala) rs1375497967
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)
NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.503C>T (p.Ala168Val) rs1602294043
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys) rs1569482278
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.3(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln) rs1432487094
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val) rs1326683020
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala)
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu)
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr) rs1602306821
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873
NM_005120.3(MED12):c.6150_6152GCA[7] (p.Gln2076dup) rs769857818
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6177_6200ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del) rs773709991
NM_005120.3(MED12):c.6186_6188GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln) rs1602306967
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6267+166G>A rs1247198443
NM_005120.3(MED12):c.6267+3A>C
NM_005120.3(MED12):c.6273_6278dup (p.Gln2115_His2116insGlnGln) rs748394417
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288_6290GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)
NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
NM_005120.3(MED12):c.6384A>G (p.Gln2128=)
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)
NM_005120.3(MED12):c.727A>C (p.Met243Leu) rs1569480971
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)
NM_005120.3(MED12):c.817C>T (p.Leu273Phe) rs1219519252
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472
NM_005249.5(FOXG1):c.115_117CAC[1] (p.His40del)
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro) rs780242359
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) rs747138265
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005249.5(FOXG1):c.141_143CCA[4] (p.His55_His57del) rs587783630
NM_005249.5(FOXG1):c.141_143CCA[5] (p.His56_His57del) rs587783630
NM_005249.5(FOXG1):c.149A>G (p.His50Arg)
NM_005249.5(FOXG1):c.158_172del (p.His53_His57del) rs1462202735
NM_005249.5(FOXG1):c.176C>T (p.Pro59Leu)
NM_005249.5(FOXG1):c.193C>T (p.Pro65Ser)
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.5(FOXG1):c.219G>T (p.Gln73His)
NM_005249.5(FOXG1):c.251C>G (p.Pro84Arg) rs866815665
NM_005249.5(FOXG1):c.253C>T (p.Pro85Ser)
NM_005249.5(FOXG1):c.268G>A (p.Ala90Thr)
NM_005249.5(FOXG1):c.269C>T (p.Ala90Val)
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245
NM_005249.5(FOXG1):c.308T>A (p.Leu103Gln)
NM_005249.5(FOXG1):c.314_318delinsAGCCGCCGCCA (p.Pro105_Pro106insGlnPro) rs1594383202
NM_005249.5(FOXG1):c.325C>A (p.Pro109Thr)
NM_005249.5(FOXG1):c.367G>A (p.Gly123Arg)
NM_005249.5(FOXG1):c.394G>A (p.Gly132Ser)
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.443G>A (p.Gly148Asp) rs781726187
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637
NM_005249.5(FOXG1):c.458G>T (p.Gly153Val) rs1555321286
NM_005249.5(FOXG1):c.460_462GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.466_468AAG[1] (p.Lys157del) rs1424025007
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
NM_005249.5(FOXG1):c.497G>C (p.Gly166Ala)
NM_005249.5(FOXG1):c.505G>A (p.Gly169Ser)
NM_005249.5(FOXG1):c.553A>G (p.Ser185Gly)
NM_005249.5(FOXG1):c.554G>C (p.Ser185Thr) rs1057516138
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.645C>G (p.Phe215Leu) rs1057518165
NM_005249.5(FOXG1):c.655C>G (p.Arg219Gly) rs1555321323
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.791T>C (p.Val264Ala)
NM_005249.5(FOXG1):c.797T>G (p.Ile266Ser)
NM_005249.5(FOXG1):c.970A>G (p.Thr324Ala)
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
NM_005629.4(SLC6A8):c.1017-4_1023dup
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_005629.4(SLC6A8):c.107G>T (p.Gly36Val)
NM_005629.4(SLC6A8):c.1127A>G (p.Lys376Arg)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro) rs1557045281
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile) rs1569539415
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=) rs1463546168
NM_005629.4(SLC6A8):c.1313A>T (p.Tyr438Phe)
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) rs1463935788
NM_005629.4(SLC6A8):c.1483G>A (p.Ala495Thr)
NM_005629.4(SLC6A8):c.1501G>A (p.Asp501Asn)
NM_005629.4(SLC6A8):c.1513_1515GAC[1] (p.Asp506del)
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) rs782000377
NM_005629.4(SLC6A8):c.152C>T (p.Pro51Leu)
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys) rs782028471
NM_005629.4(SLC6A8):c.1768-8_1768-7del rs782682148
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu) rs1060502811
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) rs782587560
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser) rs1557045828
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter)
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu)
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met) rs373570632
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005629.4(SLC6A8):c.25G>T (p.Gly9Cys)
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile)
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser) rs782174461
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del)
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala) rs1603215030
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545
NM_005629.4(SLC6A8):c.592C>A (p.Leu198Ile)
NM_005629.4(SLC6A8):c.611C>T (p.Ala204Val)
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) rs782598816
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793
NM_005629.4(SLC6A8):c.964G>C (p.Gly322Arg)
NM_005710.2(PQBP1):c.-214A>G rs1006576758
NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630
NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys) rs146371390
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) rs756836341
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006517.5(SLC16A2):c.-53A>C rs587784385
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys) rs933036653
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn) rs199942447
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) rs763606110
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
NM_006859.4(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser) rs761295906
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) rs1184621128
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
NM_006859.4(LIAS):c.218+4A>G
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) rs1172950083
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) rs1467308371
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala) rs1560666276
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp) rs796052702
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
NM_006859.4(LIAS):c.29G>A (p.Arg10His) rs1370681479
NM_006859.4(LIAS):c.312A>G (p.Thr104=) rs749254524
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) rs747124026
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln) rs1436660040
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) rs74528014
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) rs1320749254
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
NM_006859.4(LIAS):c.393+4G>A rs368453789
NM_006859.4(LIAS):c.393+7C>T rs372423537
NM_006859.4(LIAS):c.394-6T>C
NM_006859.4(LIAS):c.403G>C (p.Asp135His) rs772011702
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr) rs751421705
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs796052704
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
NM_006859.4(LIAS):c.550+4A>G rs1560668262
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala) rs1210720598
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr) rs1553934367
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser) rs1196873747
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) rs374709255
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn) rs1560669433
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln) rs570807277
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu) rs1021766315
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro) rs1553934545
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu) rs746107734
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser) rs146513468
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu) rs1427248293
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg) rs1560671038
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu) rs369125654
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu) rs528498907
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
NM_006859.4(LIAS):c.890G>A (p.Arg297His) rs756021613
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly) rs1206469888
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775
NM_006859.4(LIAS):c.999A>G (p.Lys333=)
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser)
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr)
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val)
NM_006950.3(SYN1):c.1159-6C>T
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val) rs185229386
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) rs772668988
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu)
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly)
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp)
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu) rs895517774
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu) rs1603050776
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr)
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser) rs1371497364
NM_006950.3(SYN1):c.1369G>C (p.Ala457Pro) rs748323076
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp)
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser) rs797046019
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu) rs1198466921
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val)
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu)
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe)
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu) rs913197225
NM_006950.3(SYN1):c.169G>A (p.Val57Ile)
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala) rs1294224206
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) rs796053397
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser)
NM_006950.3(SYN1):c.2028C>T (p.Ala676=)
NM_006950.3(SYN1):c.213G>A (p.Ser71=) rs774873821
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg)
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr)
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser)
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro) rs1556861785
NM_006950.3(SYN1):c.360C>A (p.Asp120Glu) rs372165835
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) rs1556861783
NM_006950.3(SYN1):c.377+6C>G
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser) rs765486966
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) rs775109362
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) rs769458536
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr)
NM_006950.3(SYN1):c.581G>A (p.Arg194His) rs373152478
NM_006950.3(SYN1):c.685-3T>C
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln)
NM_006950.3(SYN1):c.774+3G>A
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys)
NM_006950.3(SYN1):c.883G>A (p.Val295Met) rs1085307749
NM_006950.3(SYN1):c.944G>A (p.Arg315His) rs370854090
NM_006950.3(SYN1):c.986C>T (p.Thr329Met)
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-45T>G rs373940385
NM_007103.4(NDUFV1):c.-61A>G
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu)
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.1308+7A>T
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln)
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.4(NDUFV1):c.155+12C>T rs199963966
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.326+12G>A rs184136353
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr)
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys) rs138583785
NM_007103.4(NDUFV1):c.700+12C>T rs200417926
NM_007103.4(NDUFV1):c.72+15G>T rs187400726
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) rs1569441235
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) rs866395967
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) rs1569443329
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) rs764670975
NM_007325.5(GRIA3):c.813G>C (p.Gln271His) rs756316953
NM_013995.2(LAMP2):c.-103G>C rs1057515747
NM_013995.2(LAMP2):c.-136C>G
NM_013995.2(LAMP2):c.-154T>C rs999307628
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_013995.2(LAMP2):c.-26_-15dup rs1556124241
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_013995.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_013995.2(LAMP2):c.1069G>A (p.Val357Met) rs886038907
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu) rs730880488
NM_013995.2(LAMP2):c.1201A>G (p.Arg401Gly) rs777128122
NM_013995.2(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771
NM_013995.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_013995.2(LAMP2):c.232A>G (p.Ile78Val) rs748676358
NM_013995.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_013995.2(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_013995.2(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_013995.2(LAMP2):c.29C>T (p.Pro10Leu) rs769378984
NM_013995.2(LAMP2):c.30G>A (p.Pro10=) rs11540224
NM_013995.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_013995.2(LAMP2):c.416A>T (p.Glu139Val) rs1602536486
NM_013995.2(LAMP2):c.443A>G (p.Asn148Ser) rs766491800
NM_013995.2(LAMP2):c.515T>C (p.Leu172Pro) rs371174243
NM_013995.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_013995.2(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_013995.2(LAMP2):c.601A>G (p.Ile201Val) rs1362738445
NM_013995.2(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_013995.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_013995.2(LAMP2):c.737A>G (p.Asp246Gly) rs730880482
NM_013995.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_013995.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_013995.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_013995.2(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_013995.2(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_013995.2(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_013995.2(LAMP2):c.928+4A>G rs1602532732
NM_013995.2(LAMP2):c.980G>T (p.Ser327Ile) rs960241982
NM_013995.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825
NM_014165.4(NDUFAF4):c.*119T>C
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411
NM_014165.4(NDUFAF4):c.*1213C>T
NM_014165.4(NDUFAF4):c.*1247A>G
NM_014165.4(NDUFAF4):c.*1334G>A
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*1368A>G
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516
NM_014165.4(NDUFAF4):c.*14A>C
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824
NM_014165.4(NDUFAF4):c.*1728G>A
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*289C>T
NM_014165.4(NDUFAF4):c.*294T>G rs555318888
NM_014165.4(NDUFAF4):c.*305C>A
NM_014165.4(NDUFAF4):c.*459A>G rs560563894
NM_014165.4(NDUFAF4):c.*482A>G
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.*690G>A rs181915821
NM_014165.4(NDUFAF4):c.*782T>C
NM_014165.4(NDUFAF4):c.*986A>C rs192839240
NM_014165.4(NDUFAF4):c.-11G>T
NM_014165.4(NDUFAF4):c.-20G>T
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.-49C>T rs372635399
NM_014165.4(NDUFAF4):c.-65C>G
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=)
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) rs372832376
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014467.3(SRPX2):c.1011A>G (p.Gln337=) rs146920180
NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln) rs1060502322
NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly)
NM_014467.3(SRPX2):c.1143G>A (p.Leu381=)
NM_014467.3(SRPX2):c.1144G>A (p.Val382Met) rs148241932
NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp)
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) rs141292909
NM_014467.3(SRPX2):c.1229G>A (p.Arg410His)