ClinVar Miner

List of variants in gene CHD4 studied for not provided

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Gene type:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.417G>T (p.Glu139Asp) rs1639122 0.54444
NM_001273.5(CHD4):c.4371-5C>T rs7316626 0.23149
NM_001273.5(CHD4):c.4909+20T>G rs55670476 0.16159
NM_001273.5(CHD4):c.1362C>T (p.Val454=) rs11539542 0.13722
NM_001273.5(CHD4):c.1548C>T (p.Pro516=) rs11539543 0.13698
NM_001273.5(CHD4):c.13C>T (p.Leu5=) rs2267974 0.02674
NM_001273.5(CHD4):c.100+18G>A rs71584862 0.02662
NM_001273.5(CHD4):c.799+18T>C rs115269629 0.02533
NM_001273.5(CHD4):c.1686+3A>G rs61759471 0.02250
NM_001273.5(CHD4):c.4943C>T (p.Ser1648Leu) rs35512811 0.02250
NM_001273.5(CHD4):c.4587G>A (p.Lys1529=) rs34863790 0.02049
NM_001273.5(CHD4):c.1848G>A (p.Gly616=) rs61753200 0.01192
NM_001273.5(CHD4):c.1483-5C>T rs139702202 0.01036
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=) rs71584868 0.00534
NM_001273.5(CHD4):c.633G>A (p.Glu211=) rs111569582 0.00473
NM_001273.5(CHD4):c.3466-6C>T rs147135592 0.00391
NM_001273.5(CHD4):c.4161C>T (p.Pro1387=) rs115174844 0.00390
NM_001273.5(CHD4):c.420T>G (p.Asp140Glu) rs74790047 0.00239
NM_001273.5(CHD4):c.5178T>C (p.Tyr1726=) rs149961532 0.00133
NM_001273.5(CHD4):c.5217C>T (p.Ala1739=) rs34509399 0.00129
NM_001273.5(CHD4):c.2238C>T (p.Asp746=) rs141301378 0.00101
NM_001273.5(CHD4):c.1947C>T (p.Tyr649=) rs138856908 0.00090
NM_001273.5(CHD4):c.1992C>T (p.Tyr664=) rs116849726 0.00089
NM_001273.5(CHD4):c.3087A>G (p.Ala1029=) rs143645855 0.00082
NM_001273.5(CHD4):c.4515+6C>T rs372493471 0.00071
NM_001273.5(CHD4):c.2397A>C (p.Pro799=) rs138250427 0.00066
NM_001273.5(CHD4):c.1686+9A>G rs201167959 0.00063
NM_001273.5(CHD4):c.1209G>A (p.Lys403=) rs149884399 0.00060
NM_001273.5(CHD4):c.5229-3T>C rs201011723 0.00059
NM_001273.5(CHD4):c.1893-12C>G rs201636143 0.00050
NM_001273.5(CHD4):c.2610C>T (p.Leu870=) rs61759470 0.00047
NM_001273.5(CHD4):c.101-5T>A rs201854884 0.00046
NM_001273.5(CHD4):c.5002G>C (p.Glu1668Gln) rs201047688 0.00042
NM_001273.5(CHD4):c.3088A>G (p.Met1030Val) rs140410250 0.00036
NM_001273.5(CHD4):c.87C>G (p.Pro29=) rs142820101 0.00035
NM_001273.5(CHD4):c.1064G>A (p.Gly355Asp) rs144876223 0.00028
NM_001273.5(CHD4):c.5529C>T (p.Asn1843=) rs201751048 0.00026
NM_001273.5(CHD4):c.414G>T (p.Glu138Asp) rs150832622 0.00022
NM_001273.5(CHD4):c.39G>A (p.Ala13=) rs375945240 0.00019
NM_001273.5(CHD4):c.1800C>T (p.Asn600=) rs144662304 0.00016
NM_001273.5(CHD4):c.3091-8G>T rs201313750 0.00016
NM_001273.5(CHD4):c.4635T>C (p.Thr1545=) rs148990354 0.00014
NM_001273.5(CHD4):c.2734T>C (p.Leu912=) rs142502385 0.00011
NM_001273.5(CHD4):c.5722-7T>C rs573952463 0.00011
NM_001273.5(CHD4):c.751C>G (p.Pro251Ala) rs767257985 0.00010
NM_001273.5(CHD4):c.800-3T>C rs746196724 0.00010
NM_001273.5(CHD4):c.223-12G>A rs200831097 0.00008
NM_001273.5(CHD4):c.5626G>A (p.Ala1876Thr) rs1046714373 0.00008
NM_001273.5(CHD4):c.3549C>T (p.Arg1183=) rs144001531 0.00007
NM_001273.5(CHD4):c.439-6C>G rs148705976 0.00006
NM_001273.5(CHD4):c.5361+8G>T rs371006626 0.00006
NM_001273.5(CHD4):c.687G>A (p.Ala229=) rs546882640 0.00006
NM_001273.5(CHD4):c.2025-3T>C rs370071477 0.00005
NM_001273.5(CHD4):c.3747C>T (p.Tyr1249=) rs150806437 0.00005
NM_001273.5(CHD4):c.2880C>T (p.Ala960=) rs760111195 0.00004
NM_001273.5(CHD4):c.4323C>T (p.Thr1441=) rs201490082 0.00004
NM_001273.5(CHD4):c.1071G>A (p.Glu357=) rs373676246 0.00003
NM_001273.5(CHD4):c.2409C>T (p.Val803=) rs112803905 0.00003
NM_001273.5(CHD4):c.371A>G (p.Lys124Arg) rs371268726 0.00003
NM_001273.5(CHD4):c.3772C>T (p.Leu1258=) rs758929074 0.00003
NM_001273.5(CHD4):c.4842A>C (p.Gly1614=) rs142642013 0.00003
NM_001273.5(CHD4):c.927+18C>T rs559539368 0.00003
NM_001273.5(CHD4):c.1353C>T (p.Phe451=) rs778512761 0.00002
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met) rs375234607 0.00002
NM_001273.5(CHD4):c.3344C>T (p.Pro1115Leu) rs769769680 0.00002
NM_001273.5(CHD4):c.800-8G>C rs368067995 0.00002
NM_001273.5(CHD4):c.100+6A>T rs376670062 0.00001
NM_001273.5(CHD4):c.101-20T>C rs376232465 0.00001
NM_001273.5(CHD4):c.1185C>G (p.Val395=) rs1592281317 0.00001
NM_001273.5(CHD4):c.1215C>T (p.Pro405=) rs974813781 0.00001
NM_001273.5(CHD4):c.1341C>T (p.His447=) rs1592280981 0.00001
NM_001273.5(CHD4):c.1486C>G (p.Pro496Ala) rs1226303367 0.00001
NM_001273.5(CHD4):c.1912G>A (p.Val638Ile) rs746008542 0.00001
NM_001273.5(CHD4):c.2184C>T (p.Pro728=) rs368003608 0.00001
NM_001273.5(CHD4):c.222+14_222+15del rs1948611902 0.00001
NM_001273.5(CHD4):c.2313+16G>A rs572536563 0.00001
NM_001273.5(CHD4):c.291A>G (p.Glu97=) rs773723495 0.00001
NM_001273.5(CHD4):c.3704-9T>C rs1340078833 0.00001
NM_001273.5(CHD4):c.4203T>G (p.Pro1401=) rs777763272 0.00001
NM_001273.5(CHD4):c.4507C>T (p.Arg1503Cys) rs1438928727 0.00001
NM_001273.5(CHD4):c.4756A>G (p.Thr1586Ala) rs1366977058 0.00001
NM_001273.5(CHD4):c.4832C>T (p.Pro1611Leu) rs889175642 0.00001
NM_001273.5(CHD4):c.4902G>T (p.Glu1634Asp) rs774243580 0.00001
NM_001273.5(CHD4):c.4963A>G (p.Ile1655Val) rs16932768 0.00001
NM_001273.5(CHD4):c.5507C>G (p.Ser1836Cys) rs770801247 0.00001
NM_001273.5(CHD4):c.753C>T (p.Pro251=) rs1234359517 0.00001
NM_001273.5(CHD4):c.797A>G (p.Lys266Arg) rs1478217768 0.00001
NM_001273.5(CHD4):c.942C>T (p.Asp314=) rs979462197 0.00001
NC_000012.11:g.(?_6679842)_(6715539_?)dup
NM_001273.2(CHD4):c.4516del
NM_001273.5(CHD4):c.-78-1G>A
NM_001273.5(CHD4):c.100+13C>T
NM_001273.5(CHD4):c.100+15A>C
NM_001273.5(CHD4):c.100+4A>G rs1948695831
NM_001273.5(CHD4):c.1040G>A (p.Arg347Gln)
NM_001273.5(CHD4):c.1046C>T (p.Thr349Ile) rs774036270
NM_001273.5(CHD4):c.104A>G (p.Asn35Ser)
NM_001273.5(CHD4):c.1053_1055del (p.Lys354del) rs2136223748
NM_001273.5(CHD4):c.105T>C (p.Asn35=) rs1565619678
NM_001273.5(CHD4):c.1063+14_1063+16del
NM_001273.5(CHD4):c.1063+16G>C
NM_001273.5(CHD4):c.1063+20A>G
NM_001273.5(CHD4):c.1076T>G (p.Val359Gly)
NM_001273.5(CHD4):c.1111G>C (p.Asp371His)
NM_001273.5(CHD4):c.1117T>G (p.Cys373Gly)
NM_001273.5(CHD4):c.1119C>T (p.Cys373=)
NM_001273.5(CHD4):c.1137C>T (p.Gly379=)
NM_001273.5(CHD4):c.1238A>G (p.His413Arg)
NM_001273.5(CHD4):c.1242+14C>T
NM_001273.5(CHD4):c.1242+15A>G
NM_001273.5(CHD4):c.1243-5T>C
NM_001273.5(CHD4):c.1243-8T>C
NM_001273.5(CHD4):c.1263G>C (p.Trp421Cys) rs2136223021
NM_001273.5(CHD4):c.1278C>T (p.Asp426=)
NM_001273.5(CHD4):c.1283C>T (p.Ser428Leu)
NM_001273.5(CHD4):c.1300C>G (p.Leu434Val)
NM_001273.5(CHD4):c.1326_1328del (p.Glu444del)
NM_001273.5(CHD4):c.1336G>A (p.Asp446Asn) rs1555174358
NM_001273.5(CHD4):c.1355G>T (p.Cys452Phe)
NM_001273.5(CHD4):c.1409C>T (p.Ser470Phe)
NM_001273.5(CHD4):c.1410C>T (p.Ser470=)
NM_001273.5(CHD4):c.143C>G (p.Thr48Ser)
NM_001273.5(CHD4):c.1442del (p.Pro481fs) rs2136222835
NM_001273.5(CHD4):c.1482+20C>T
NM_001273.5(CHD4):c.1483-13C>T rs780688247
NM_001273.5(CHD4):c.1483-2A>G rs2136221257
NM_001273.5(CHD4):c.1483-7C>T
NM_001273.5(CHD4):c.152T>C (p.Leu51Pro)
NM_001273.5(CHD4):c.1542A>G (p.Pro514=)
NM_001273.5(CHD4):c.1543T>C (p.Ser515Pro)
NM_001273.5(CHD4):c.1547C>T (p.Pro516Leu)
NM_001273.5(CHD4):c.156GAA[2] (p.Lys56del)
NM_001273.5(CHD4):c.1571A>C (p.Asp524Ala)
NM_001273.5(CHD4):c.1586C>T (p.Thr529Met)
NM_001273.5(CHD4):c.1588C>A (p.Pro530Thr)
NM_001273.5(CHD4):c.1595C>G (p.Pro532Arg)
NM_001273.5(CHD4):c.1597A>G (p.Lys533Glu)
NM_001273.5(CHD4):c.159G>A (p.Lys53=)
NM_001273.5(CHD4):c.1607A>T (p.Glu536Val)
NM_001273.5(CHD4):c.1622G>A (p.Arg541Gln)
NM_001273.5(CHD4):c.1638A>G (p.Lys546=)
NM_001273.5(CHD4):c.1686+12A>G
NM_001273.5(CHD4):c.1687-14C>T
NM_001273.5(CHD4):c.1698C>T (p.His566=)
NM_001273.5(CHD4):c.170C>T (p.Pro57Leu)
NM_001273.5(CHD4):c.1714C>T (p.Arg572Ter) rs2136220894
NM_001273.5(CHD4):c.172A>G (p.Lys58Glu)
NM_001273.5(CHD4):c.1759G>A (p.Asp587Asn) rs2136220875
NM_001273.5(CHD4):c.1766G>C (p.Gly589Ala) rs1565615605
NM_001273.5(CHD4):c.1767T>C (p.Gly589=)
NM_001273.5(CHD4):c.1815T>G (p.Phe605Leu)
NM_001273.5(CHD4):c.1832G>A (p.Arg611His)
NM_001273.5(CHD4):c.1858G>C (p.Glu620Gln)
NM_001273.5(CHD4):c.1875C>T (p.His625=)
NM_001273.5(CHD4):c.1892+10G>A
NM_001273.5(CHD4):c.1893-17C>T
NM_001273.5(CHD4):c.1893T>G (p.Ser631Arg)
NM_001273.5(CHD4):c.1897G>T (p.Asp633Tyr)
NM_001273.5(CHD4):c.1911C>T (p.His637=)
NM_001273.5(CHD4):c.1933C>T (p.Arg645Trp)
NM_001273.5(CHD4):c.1993G>T (p.Asp665Tyr)
NM_001273.5(CHD4):c.1994A>G (p.Asp665Gly) rs2136218373
NM_001273.5(CHD4):c.2015_2018dup (p.Asn673fs)
NM_001273.5(CHD4):c.2024+14G>T
NM_001273.5(CHD4):c.2027A>T (p.Glu676Val)
NM_001273.5(CHD4):c.2040T>A (p.Gly680=)
NM_001273.5(CHD4):c.2050C>T (p.Arg684Ter) rs1948470527
NM_001273.5(CHD4):c.2058C>G (p.Gly686=)
NM_001273.5(CHD4):c.2074G>A (p.Val692Met) rs2136217454
NM_001273.5(CHD4):c.2083C>T (p.Arg695Trp)
NM_001273.5(CHD4):c.2096G>A (p.Arg699Lys)
NM_001273.5(CHD4):c.20C>A (p.Ser7Tyr)
NM_001273.5(CHD4):c.2108C>T (p.Thr703Met)
NM_001273.5(CHD4):c.2109G>A (p.Thr703=)
NM_001273.5(CHD4):c.2121+10G>T
NM_001273.5(CHD4):c.2121+9G>A rs1357020966
NM_001273.5(CHD4):c.2125A>G (p.Thr709Ala)
NM_001273.5(CHD4):c.2126C>T (p.Thr709Ile) rs981819804
NM_001273.5(CHD4):c.2144A>C (p.Gln715Pro)
NM_001273.5(CHD4):c.2213G>A (p.Arg738His)
NM_001273.5(CHD4):c.223-15C>T
NM_001273.5(CHD4):c.2249C>T (p.Ala750Val) rs1555171299
NM_001273.5(CHD4):c.224G>A (p.Arg75His)
NM_001273.5(CHD4):c.2251G>A (p.Asp751Asn) rs1555171293
NM_001273.5(CHD4):c.2274T>C (p.Thr758=)
NM_001273.5(CHD4):c.2274del (p.Val759fs) rs2136216591
NM_001273.5(CHD4):c.2295G>A (p.Leu765=)
NM_001273.5(CHD4):c.2313+10T>A
NM_001273.5(CHD4):c.2313+8A>G
NM_001273.5(CHD4):c.2314-17C>T
NM_001273.5(CHD4):c.231C>T (p.Leu77=)
NM_001273.5(CHD4):c.2335C>T (p.Leu779=)
NM_001273.5(CHD4):c.2343C>T (p.Ser781=)
NM_001273.5(CHD4):c.2346C>T (p.Ala782=)
NM_001273.5(CHD4):c.238del (p.Arg80fs)
NM_001273.5(CHD4):c.23dup (p.Ser9fs)
NM_001273.5(CHD4):c.2403G>A (p.Met801Ile)
NM_001273.5(CHD4):c.2438G>A (p.Arg813His) rs2136215523
NM_001273.5(CHD4):c.245T>C (p.Leu82Pro)
NM_001273.5(CHD4):c.2460G>C (p.Glu820Asp)
NM_001273.5(CHD4):c.2461T>G (p.Phe821Val)
NM_001273.5(CHD4):c.249G>T (p.Gly83=)
NM_001273.5(CHD4):c.2506C>T (p.Arg836Cys) rs933562750
NM_001273.5(CHD4):c.2514+8A>C rs1592274791
NM_001273.5(CHD4):c.2514+8_2514+9del
NM_001273.5(CHD4):c.2517A>G (p.Lys839=)
NM_001273.5(CHD4):c.2520G>A (p.Glu840=) rs538710424
NM_001273.5(CHD4):c.2555A>G (p.Tyr852Cys)
NM_001273.5(CHD4):c.2578G>C (p.Ala860Pro) rs2136215177
NM_001273.5(CHD4):c.2581A>G (p.Ile861Val)
NM_001273.5(CHD4):c.2613C>T (p.Ile871=)
NM_001273.5(CHD4):c.2618A>T (p.Asp873Val)
NM_001273.5(CHD4):c.2648C>G (p.Ser883Cys)
NM_001273.5(CHD4):c.2652+18G>T
NM_001273.5(CHD4):c.2653-8dup rs1299501332
NM_001273.5(CHD4):c.2659C>T (p.Arg887Trp) rs1064795878
NM_001273.5(CHD4):c.2660G>A (p.Arg887Gln)
NM_001273.5(CHD4):c.2662del (p.Val888fs) rs1555170507
NM_001273.5(CHD4):c.2692C>T (p.Leu898=) rs910720220
NM_001273.5(CHD4):c.2713T>C (p.Leu905=)
NM_001273.5(CHD4):c.2722A>T (p.Asn908Tyr) rs2136214701
NM_001273.5(CHD4):c.272A>G (p.Glu91Gly)
NM_001273.5(CHD4):c.2748C>G (p.Leu916=)
NM_001273.5(CHD4):c.2769G>C (p.Arg923Ser) rs1064795757
NM_001273.5(CHD4):c.2774+7A>G
NM_001273.5(CHD4):c.279GGA[5] (p.Glu98_Val99insGlu)
NM_001273.5(CHD4):c.2862G>A (p.Met954Ile) rs1948418309
NM_001273.5(CHD4):c.2883T>C (p.Asp961=)
NM_001273.5(CHD4):c.2892G>T (p.Lys964Asn) rs2136214363
NM_001273.5(CHD4):c.2897T>A (p.Met966Lys) rs1057520911
NM_001273.5(CHD4):c.2899C>T (p.Pro967Ser)
NM_001273.5(CHD4):c.28C>G (p.Pro10Ala) rs2136231042
NM_001273.5(CHD4):c.2901C>T (p.Pro967=) rs2136214353
NM_001273.5(CHD4):c.2949-1G>A rs2136213885
NM_001273.5(CHD4):c.2954A>C (p.Tyr985Ser)
NM_001273.5(CHD4):c.2955C>T (p.Tyr985=)
NM_001273.5(CHD4):c.2962T>C (p.Tyr988His) rs2136213870
NM_001273.5(CHD4):c.2993A>G (p.Asn998Ser)
NM_001273.5(CHD4):c.3046AAG[1] (p.Lys1017del) rs1064794693
NM_001273.5(CHD4):c.3047A>T (p.Lys1016Met)
NM_001273.5(CHD4):c.304C>T (p.Arg102Cys)
NM_001273.5(CHD4):c.3059A>G (p.Asn1020Ser)
NM_001273.5(CHD4):c.3090+18C>T
NM_001273.5(CHD4):c.3091-12A>G
NM_001273.5(CHD4):c.3109A>G (p.Asn1037Asp) rs1948405987
NM_001273.5(CHD4):c.321C>T (p.Gly107=)
NM_001273.5(CHD4):c.3222+7T>C
NM_001273.5(CHD4):c.3223-10T>G
NM_001273.5(CHD4):c.3223-12C>T
NM_001273.5(CHD4):c.3223-3C>T
NM_001273.5(CHD4):c.324C>T (p.Ser108=)
NM_001273.5(CHD4):c.3280G>A (p.Glu1094Lys)
NM_001273.5(CHD4):c.3288C>T (p.Ile1096=)
NM_001273.5(CHD4):c.3289G>A (p.Asp1097Asn)
NM_001273.5(CHD4):c.3290A>T (p.Asp1097Val)
NM_001273.5(CHD4):c.3291T>C (p.Asp1097=) rs2136213431
NM_001273.5(CHD4):c.3318A>G (p.Gln1106=)
NM_001273.5(CHD4):c.331A>G (p.Thr111Ala)
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr) rs2136213384
NM_001273.5(CHD4):c.332C>T (p.Thr111Ile)
NM_001273.5(CHD4):c.3340+10_3340+12del
NM_001273.5(CHD4):c.3340+6A>G
NM_001273.5(CHD4):c.3345G>A (p.Pro1115=)
NM_001273.5(CHD4):c.3379C>T (p.Arg1127Ter) rs747971011
NM_001273.5(CHD4):c.340AAG[7] (p.Lys119_Leu120insLys)
NM_001273.5(CHD4):c.3441C>G (p.Asp1147Glu) rs2136209729
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3530G>A (p.Arg1177His) rs2136209181
NM_001273.5(CHD4):c.3534G>A (p.Ala1178=)
NM_001273.5(CHD4):c.3539T>C (p.Val1180Ala) rs1948326612
NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys) rs2136209158
NM_001273.5(CHD4):c.3548G>A (p.Arg1183His) rs1948326461
NM_001273.5(CHD4):c.354G>A (p.Lys118=)
NM_001273.5(CHD4):c.3585G>A (p.Thr1195=)
NM_001273.5(CHD4):c.358C>T (p.Leu120Phe)
NM_001273.5(CHD4):c.3598C>T (p.Arg1200Trp) rs2136209107
NM_001273.5(CHD4):c.3599G>A (p.Arg1200Gln)
NM_001273.5(CHD4):c.3600G>A (p.Arg1200=)
NM_001273.5(CHD4):c.3606G>C (p.Gly1202=)
NM_001273.5(CHD4):c.3653T>C (p.Ile1218Thr)
NM_001273.5(CHD4):c.3659A>C (p.Lys1220Thr) rs1377989582
NM_001273.5(CHD4):c.3660_3661del (p.Lys1220fs) rs1064796896
NM_001273.5(CHD4):c.3681C>T (p.Phe1227=)
NM_001273.5(CHD4):c.374AGA[2] (p.Lys127del)
NM_001273.5(CHD4):c.3752A>G (p.Asp1251Gly)
NM_001273.5(CHD4):c.3769C>G (p.Leu1257Val)
NM_001273.5(CHD4):c.3834C>T (p.Ser1278=)
NM_001273.5(CHD4):c.3844G>T (p.Val1282Leu)
NM_001273.5(CHD4):c.3862C>T (p.Arg1288Trp)
NM_001273.5(CHD4):c.38C>T (p.Ala13Val)
NM_001273.5(CHD4):c.394C>T (p.Arg132Trp)
NM_001273.5(CHD4):c.3956G>A (p.Arg1319Gln)
NM_001273.5(CHD4):c.3960C>G (p.His1320Gln)
NM_001273.5(CHD4):c.397_399del (p.Lys133del)
NM_001273.5(CHD4):c.3988G>A (p.Ala1330Thr)
NM_001273.5(CHD4):c.399GGA[6] (p.Glu139del) rs71584865
NM_001273.5(CHD4):c.399GGA[8] (p.Glu139_Asp140insGlu)
NM_001273.5(CHD4):c.4018C>T (p.Arg1340Cys)
NM_001273.5(CHD4):c.4035C>T (p.Tyr1345=)
NM_001273.5(CHD4):c.4051G>A (p.Glu1351Lys)
NM_001273.5(CHD4):c.4057C>G (p.Arg1353Gly)
NM_001273.5(CHD4):c.4057C>T (p.Arg1353Ter)
NM_001273.5(CHD4):c.4058G>A (p.Arg1353Gln) rs1948225767
NM_001273.5(CHD4):c.4060+40C>G
NM_001273.5(CHD4):c.4061-25G>C
NM_001273.5(CHD4):c.4071C>A (p.Asp1357Glu)
NM_001273.5(CHD4):c.4091C>A (p.Ser1364Tyr)
NM_001273.5(CHD4):c.4147+1G>T rs2136203532
NM_001273.5(CHD4):c.4147+5G>C
NM_001273.5(CHD4):c.4160C>T (p.Pro1387Leu)
NM_001273.5(CHD4):c.4185T>A (p.Asp1395Glu) rs1385229724
NM_001273.5(CHD4):c.418GAT[4] (p.Asp144del)
NM_001273.5(CHD4):c.4230T>C (p.Asn1410=)
NM_001273.5(CHD4):c.4236+13C>T
NM_001273.5(CHD4):c.4237-4C>T
NM_001273.5(CHD4):c.4237-7C>T
NM_001273.5(CHD4):c.4256G>A (p.Arg1419His) rs2136203174
NM_001273.5(CHD4):c.4281A>C (p.Ala1427=) rs766616340
NM_001273.5(CHD4):c.430G>T (p.Asp144Tyr) rs1394252975
NM_001273.5(CHD4):c.4350C>T (p.Gly1450=) rs2136203056
NM_001273.5(CHD4):c.4362A>G (p.Lys1454=)
NM_001273.5(CHD4):c.4370+17A>G
NM_001273.5(CHD4):c.438+3G>A rs61753201
NM_001273.5(CHD4):c.4413G>A (p.Gly1471=) rs921666690
NM_001273.5(CHD4):c.4414G>A (p.Ala1472Thr)
NM_001273.5(CHD4):c.4423G>T (p.Ala1475Ser)
NM_001273.5(CHD4):c.443C>G (p.Pro148Arg)
NM_001273.5(CHD4):c.4472A>G (p.His1491Arg)
NM_001273.5(CHD4):c.4482T>C (p.Thr1494=)
NM_001273.5(CHD4):c.4516-11C>G
NM_001273.5(CHD4):c.4526T>C (p.Phe1509Ser)
NM_001273.5(CHD4):c.4534G>A (p.Val1512Ile)
NM_001273.5(CHD4):c.4543C>T (p.Arg1515Cys)
NM_001273.5(CHD4):c.4564G>C (p.Ala1522Pro) rs776080022
NM_001273.5(CHD4):c.456T>C (p.Ala152=)
NM_001273.5(CHD4):c.4581_4583del (p.Asn1527del)
NM_001273.5(CHD4):c.4583AGA[1] (p.Lys1529del)
NM_001273.5(CHD4):c.4621C>G (p.Pro1541Ala)
NM_001273.5(CHD4):c.4621_4623del (p.Pro1541del)
NM_001273.5(CHD4):c.4628C>T (p.Pro1543Leu)
NM_001273.5(CHD4):c.4642G>T (p.Asp1548Tyr)
NM_001273.5(CHD4):c.4646C>T (p.Thr1549Met)
NM_001273.5(CHD4):c.4667C>G (p.Pro1556Arg)
NM_001273.5(CHD4):c.4677T>A (p.Pro1559=)
NM_001273.5(CHD4):c.4681+16C>G
NM_001273.5(CHD4):c.4681+8dup rs2136201839
NM_001273.5(CHD4):c.468A>G (p.Glu156=) rs2136225202
NM_001273.5(CHD4):c.4722A>C (p.Glu1574Asp)
NM_001273.5(CHD4):c.4725_4739del (p.Ser1576_Glu1580del)
NM_001273.5(CHD4):c.4738G>A (p.Glu1580Lys)
NM_001273.5(CHD4):c.4765G>A (p.Glu1589Lys)
NM_001273.5(CHD4):c.4780-20del
NM_001273.5(CHD4):c.4780T>C (p.Cys1594Arg) rs1948181408
NM_001273.5(CHD4):c.4796C>T (p.Ala1599Val)
NM_001273.5(CHD4):c.4834C>T (p.Pro1612Ser)
NM_001273.5(CHD4):c.4893G>C (p.Met1631Ile)
NM_001273.5(CHD4):c.4897A>G (p.Thr1633Ala)
NM_001273.5(CHD4):c.4906A>G (p.Lys1636Glu) rs866968846
NM_001273.5(CHD4):c.4909+13A>C
NM_001273.5(CHD4):c.4910G>A (p.Gly1637Asp) rs750234213
NM_001273.5(CHD4):c.4923A>C (p.Val1641=) rs1592261833
NM_001273.5(CHD4):c.4933G>A (p.Glu1645Lys) rs916782498
NM_001273.5(CHD4):c.4951G>C (p.Asp1651His) rs757879181
NM_001273.5(CHD4):c.495C>T (p.His165=)
NM_001273.5(CHD4):c.4979A>G (p.Lys1660Arg) rs1057523969
NM_001273.5(CHD4):c.4981+7G>A rs955964112
NM_001273.5(CHD4):c.4982-15C>T
NM_001273.5(CHD4):c.4992AGA[3] (p.Glu1668del)
NM_001273.5(CHD4):c.5042A>G (p.Lys1681Arg) rs778146868
NM_001273.5(CHD4):c.5044G>A (p.Asp1682Asn)
NM_001273.5(CHD4):c.5084G>A (p.Arg1695His)
NM_001273.5(CHD4):c.5108G>A (p.Gly1703Asp)
NM_001273.5(CHD4):c.5119+59G>T
NM_001273.5(CHD4):c.5120-9C>T rs1004000728
NM_001273.5(CHD4):c.5152G>C (p.Ala1718Pro)
NM_001273.5(CHD4):c.5153C>T (p.Ala1718Val)
NM_001273.5(CHD4):c.5159C>T (p.Thr1720Ile)
NM_001273.5(CHD4):c.5169G>C (p.Lys1723Asn)
NM_001273.5(CHD4):c.5182A>G (p.Ile1728Val)
NM_001273.5(CHD4):c.5192G>A (p.Arg1731Gln) rs1483827834
NM_001273.5(CHD4):c.5228+9T>G
NM_001273.5(CHD4):c.5230C>T (p.His1744Tyr)
NM_001273.5(CHD4):c.5250A>G (p.Gln1750=)
NM_001273.5(CHD4):c.5276C>T (p.Ala1759Val)
NM_001273.5(CHD4):c.5279T>A (p.Ile1760Asn)
NM_001273.5(CHD4):c.5285A>G (p.Asn1762Ser)
NM_001273.5(CHD4):c.5312G>C (p.Arg1771Pro)
NM_001273.5(CHD4):c.5325A>G (p.Leu1775=)
NM_001273.5(CHD4):c.5362-3C>T
NM_001273.5(CHD4):c.5373A>G (p.Gln1791=)
NM_001273.5(CHD4):c.5430C>A (p.Asp1810Glu) rs2136191632
NM_001273.5(CHD4):c.5431C>A (p.Pro1811Thr)
NM_001273.5(CHD4):c.5454C>G (p.Leu1818=) rs572734539
NM_001273.5(CHD4):c.5503C>T (p.Leu1835=)
NM_001273.5(CHD4):c.5543C>T (p.Ala1848Val) rs2136191495
NM_001273.5(CHD4):c.5553C>T (p.His1851=)
NM_001273.5(CHD4):c.5557+8G>A
NM_001273.5(CHD4):c.5558-18C>T
NM_001273.5(CHD4):c.5558-9C>T
NM_001273.5(CHD4):c.559C>T (p.Pro187Ser)
NM_001273.5(CHD4):c.5629C>T (p.Arg1877Ter)
NM_001273.5(CHD4):c.5639C>T (p.Pro1880Leu)
NM_001273.5(CHD4):c.564C>A (p.Leu188=) rs200100295
NM_001273.5(CHD4):c.5669G>A (p.Arg1890His)
NM_001273.5(CHD4):c.5694C>T (p.Asn1898=)
NM_001273.5(CHD4):c.5699C>T (p.Ala1900Val)
NM_001273.5(CHD4):c.56A>G (p.Asp19Gly)
NM_001273.5(CHD4):c.5703C>A (p.Pro1901=) rs202019064
NM_001273.5(CHD4):c.5703C>T (p.Pro1901=)
NM_001273.5(CHD4):c.5711C>T (p.Thr1904Ile)
NM_001273.5(CHD4):c.5716C>T (p.Gln1906Ter) rs2136189096
NM_001273.5(CHD4):c.571G>T (p.Ala191Ser) rs2136224932
NM_001273.5(CHD4):c.5722-17C>T rs116460731
NM_001273.5(CHD4):c.578dup (p.Asn193fs)
NM_001273.5(CHD4):c.5C>T (p.Ala2Val) rs1565622346
NM_001273.5(CHD4):c.610G>A (p.Val204Ile)
NM_001273.5(CHD4):c.631_648delinsCA (p.Glu211fs)
NM_001273.5(CHD4):c.671C>T (p.Ala224Val)
NM_001273.5(CHD4):c.684T>C (p.Ala228=)
NM_001273.5(CHD4):c.689C>T (p.Ala230Val)
NM_001273.5(CHD4):c.752C>A (p.Pro251His)
NM_001273.5(CHD4):c.763G>A (p.Val255Met)
NM_001273.5(CHD4):c.77A>T (p.Asn26Ile)
NM_001273.5(CHD4):c.826G>T (p.Gly276Cys)
NM_001273.5(CHD4):c.84G>A (p.Leu28=) rs370679311
NM_001273.5(CHD4):c.84G>T (p.Leu28=)
NM_001273.5(CHD4):c.914G>A (p.Arg305His)
NM_001273.5(CHD4):c.924C>G (p.Ser308=)
NM_001273.5(CHD4):c.927+15C>T
NM_001273.5(CHD4):c.928-13T>C
NM_001273.5(CHD4):c.935A>G (p.Asp312Gly)
NM_001273.5(CHD4):c.971C>T (p.Ala324Val)
NM_001273.5(CHD4):c.972C>T (p.Ala324=)
NM_001273.5(CHD4):c.982A>G (p.Ser328Gly) rs2136223878

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