ClinVar Miner

List of variants in gene CHD7 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 792
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00029
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568 0.00023
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138 0.00016
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228 0.00014
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_017780.4(CHD7):c.2613+5G>A rs202143667 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 0.00006
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227 0.00006
NM_017780.4(CHD7):c.1104C>T (p.His368=) rs763250461 0.00005
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) rs767390470 0.00005
NM_017780.4(CHD7):c.3202-3T>C rs1060503183 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) rs771781756 0.00005
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys) rs368934543 0.00005
NM_017780.4(CHD7):c.*1644A>G rs886063053 0.00004
NM_017780.4(CHD7):c.1663C>A (p.Gln555Lys) rs200024753 0.00004
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn) rs767513261 0.00004
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu) rs1201043974 0.00004
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) rs753347128 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 0.00004
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212 0.00004
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) rs727503867 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.7164+3G>A rs1181000692 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg) rs912988587 0.00004
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=) rs529369619 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00003
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) rs765180149 0.00002
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) rs1441258013 0.00002
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) rs371742009 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser) rs886044146 0.00002
NM_017780.4(CHD7):c.3044T>C (p.Ile1015Thr) rs1374888110 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu) rs371385411 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser) rs1189776580 0.00002
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met) rs1349507815 0.00002
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser) rs1012221437 0.00002
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr) rs1242867481 0.00002
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile) rs749302988 0.00002
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser) rs1554581580 0.00001
NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser) rs1208556547 0.00001
NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala) rs911422083 0.00001
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp) rs547298242 0.00001
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430 0.00001
NM_017780.4(CHD7):c.1622A>G (p.His541Arg) rs1388338640 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.202C>T (p.His68Tyr) rs886063032 0.00001
NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp) rs370267935 0.00001
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu) rs1064794416 0.00001
NM_017780.4(CHD7):c.2377-3T>A rs545931432 0.00001
NM_017780.4(CHD7):c.2613+4C>T rs779615403 0.00001
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp) rs772260091 0.00001
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser) rs1224277360 0.00001
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg) rs755233517 0.00001
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln) rs1014640333 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu) rs753887911 0.00001
NM_017780.4(CHD7):c.2836-5A>G rs779518202 0.00001
NM_017780.4(CHD7):c.2853T>A (p.Asp951Glu) rs1804067183 0.00001
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile) rs1345463010 0.00001
NM_017780.4(CHD7):c.2956A>G (p.Met986Val) rs764345519 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val) rs1415116812 0.00001
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243 0.00001
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys) rs753233210 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3523-3T>C rs1804451088 0.00001
NM_017780.4(CHD7):c.3616A>G (p.Ile1206Val) rs755429625 0.00001
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) rs794727150 0.00001
NM_017780.4(CHD7):c.3776A>G (p.Asn1259Ser) rs1239880284 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.4328G>A (p.Ser1443Asn) rs1333684435 0.00001
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys) rs1009126876 0.00001
NM_017780.4(CHD7):c.4691T>C (p.Leu1564Pro) rs1804991326 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr) rs375951527 0.00001
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051 0.00001
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) rs755340969 0.00001
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His) rs1249078741 0.00001
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys) rs200964201 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_017780.4(CHD7):c.5200C>T (p.His1734Tyr) rs1805162137 0.00001
NM_017780.4(CHD7):c.5404+5G>A rs1255859560 0.00001
NM_017780.4(CHD7):c.5438C>T (p.Pro1813Leu) rs1317412492 0.00001
NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val) rs1805407417 0.00001
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431 0.00001
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599 0.00001
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu) rs751847978 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) rs768950252 0.00001
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) rs535347450 0.00001
NM_017780.4(CHD7):c.5797G>A (p.Ala1933Thr) rs1418642683 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) rs374040699 0.00001
NM_017780.4(CHD7):c.584G>A (p.Arg195His) rs1250450695 0.00001
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly) rs1805484724 0.00001
NM_017780.4(CHD7):c.5895-3C>T rs757905650 0.00001
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala) rs1805501956 0.00001
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys) rs192260844 0.00001
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val) rs752107963 0.00001
NM_017780.4(CHD7):c.631A>C (p.Ser211Arg) rs936848734 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val) rs1064794182 0.00001
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg) rs1805560223 0.00001
NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val) rs1398262614 0.00001
NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys) rs1227502557 0.00001
NM_017780.4(CHD7):c.6775+6G>T rs773804340 0.00001
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val) rs1047690374 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.685A>G (p.Thr229Ala) rs767816305 0.00001
NM_017780.4(CHD7):c.6936+6C>T rs762730711 0.00001
NM_017780.4(CHD7):c.6937-9T>G rs1203336052 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) rs763555514 0.00001
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252 0.00001
NM_017780.4(CHD7):c.7183T>C (p.Ser2395Pro) rs1285534131 0.00001
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp) rs770959300 0.00001
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7655C>T (p.Pro2552Leu) rs1805941132 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu) rs1427104456 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln) rs747082615 0.00001
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val) rs1056534038 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg) rs373124679 0.00001
NM_017780.4(CHD7):c.8452_8454dup (p.Asn2818dup) rs1443281585 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp) rs970020036 0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) rs762290343 0.00001
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro) rs764758566 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) rs374004489 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NC_000008.10:g.(?_61653972)_(61655676_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NM_017780.4(CHD7):c.*1663AG[1] rs761460675
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.-465GCG[8] rs71245513
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-490GGC[10] rs886063023
NM_017780.4(CHD7):c.-490GGC[9] rs886063023
NM_017780.4(CHD7):c.1004C>T (p.Thr335Ile)
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1049C>T (p.Ala350Val) rs2150579918
NM_017780.4(CHD7):c.1054G>A (p.Gly352Arg)
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
NM_017780.4(CHD7):c.1069A>G (p.Ser357Gly) rs1809095447
NM_017780.4(CHD7):c.1070G>A (p.Ser357Asn)
NM_017780.4(CHD7):c.1096C>T (p.Pro366Ser)
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly) rs1809098477
NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
NM_017780.4(CHD7):c.1120A>G (p.Asn374Asp)
NM_017780.4(CHD7):c.1126A>G (p.Met376Val) rs1317332713
NM_017780.4(CHD7):c.1135C>A (p.Gln379Lys) rs2150580201
NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg)
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu) rs757050240
NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)
NM_017780.4(CHD7):c.1193C>A (p.Pro398His) rs1586250714
NM_017780.4(CHD7):c.1197G>A (p.Met399Ile)
NM_017780.4(CHD7):c.1201G>A (p.Ala401Thr)
NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu)
NM_017780.4(CHD7):c.1221C>T (p.Gly407=) rs1809105436
NM_017780.4(CHD7):c.1222A>G (p.Thr408Ala) rs760121832
NM_017780.4(CHD7):c.1238T>G (p.Val413Gly) rs1021434443
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser) rs1313265725
NM_017780.4(CHD7):c.1271_1273del (p.Val424del) rs1466152038
NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn)
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) rs772369092
NM_017780.4(CHD7):c.1348A>G (p.Met450Val)
NM_017780.4(CHD7):c.1365G>A (p.Met455Ile)
NM_017780.4(CHD7):c.1390A>T (p.Met464Leu)
NM_017780.4(CHD7):c.1392G>T (p.Met464Ile) rs780392912
NM_017780.4(CHD7):c.1394C>T (p.Ser465Phe)
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
NM_017780.4(CHD7):c.1429C>T (p.Pro477Ser) rs774211699
NM_017780.4(CHD7):c.1439G>T (p.Cys480Phe)
NM_017780.4(CHD7):c.1444G>A (p.Gly482Ser)
NM_017780.4(CHD7):c.1445G>A (p.Gly482Asp) rs911422083
NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro)
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn) rs1383452692
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg) rs1809129557
NM_017780.4(CHD7):c.1510C>G (p.Gln504Glu)
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg) rs1809015487
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) rs748635676
NM_017780.4(CHD7):c.1537A>G (p.Thr513Ala) rs957224882
NM_017780.4(CHD7):c.1542TCC[1] (p.Pro516del) rs746859882
NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr) rs1210884047
NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala)
NM_017780.4(CHD7):c.1543C>T (p.Pro515Ser) rs1210884047
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
NM_017780.4(CHD7):c.1554G>C (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1561C>G (p.Pro521Ala)
NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg) rs2150581368
NM_017780.4(CHD7):c.1589_1597del (p.Pro530_Pro532del)
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu) rs1809137397
NM_017780.4(CHD7):c.160C>G (p.Leu54Val)
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro) rs1586252204
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu) rs1809021019
NM_017780.4(CHD7):c.209A>G (p.Asp70Gly)
NM_017780.4(CHD7):c.2117A>T (p.Glu706Val)
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.2198C>T (p.Pro733Leu)
NM_017780.4(CHD7):c.2220T>A (p.Asp740Glu)
NM_017780.4(CHD7):c.2233G>A (p.Val745Ile) rs1811957623
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-4T>G
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp) rs1320501538
NM_017780.4(CHD7):c.2246G>A (p.Arg749Gln) rs942764555
NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn)
NM_017780.4(CHD7):c.2272C>T (p.Arg758Cys)
NM_017780.4(CHD7):c.2308G>C (p.Glu770Gln) rs2150708888
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del) rs761153051
NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly)
NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly)
NM_017780.4(CHD7):c.2345C>G (p.Ser782Cys) rs1812251287
NM_017780.4(CHD7):c.2347C>G (p.Pro783Ala) rs373873996
NM_017780.4(CHD7):c.235A>G (p.Lys79Glu) rs2150577685
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2396G>T (p.Gly799Val) rs1167408520
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu)
NM_017780.4(CHD7):c.239T>G (p.Met80Arg)
NM_017780.4(CHD7):c.2423G>A (p.Ser808Asn)
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys) rs2150711196
NM_017780.4(CHD7):c.2426G>C (p.Arg809Pro) rs1313215076
NM_017780.4(CHD7):c.2443-8T>G
NM_017780.4(CHD7):c.2467A>G (p.Ile823Val)
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr) rs1812629374
NM_017780.4(CHD7):c.247A>G (p.Met83Val) rs1809024182
NM_017780.4(CHD7):c.2498+3A>G rs2150723994
NM_017780.4(CHD7):c.2499-11T>A rs2150738863
NM_017780.4(CHD7):c.2510A>G (p.His837Arg)
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg) rs2150738931
NM_017780.4(CHD7):c.2558A>T (p.Gln853Leu)
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln) rs1355349547
NM_017780.4(CHD7):c.2615T>C (p.Ile872Thr)
NM_017780.4(CHD7):c.2626C>A (p.Leu876Ile)
NM_017780.4(CHD7):c.2626C>T (p.Leu876Phe) rs368156500
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly) rs1015190633
NM_017780.4(CHD7):c.2672C>A (p.Ala891Glu)
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys) rs768961973
NM_017780.4(CHD7):c.2681C>A (p.Thr894Lys)
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.2755_2756delinsCG (p.Glu919Arg)
NM_017780.4(CHD7):c.2775T>G (p.Asp925Glu) rs749781431
NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu)
NM_017780.4(CHD7):c.278C>A (p.Thr93Asn) rs1809027007
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile) rs1809027007
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp) rs1586389578
NM_017780.4(CHD7):c.2820_2822dup (p.Glu941_Thr942insGlu)
NM_017780.4(CHD7):c.2822A>C (p.Glu941Ala)
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2834T>C (p.Val945Ala)
NM_017780.4(CHD7):c.2849C>T (p.Ala950Val)
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val) rs768456277
NM_017780.4(CHD7):c.2872A>C (p.Ser958Arg)
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del) rs1804070388
NM_017780.4(CHD7):c.292C>T (p.Leu98Phe)
NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys)
NM_017780.4(CHD7):c.2957+6T>A
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.2991G>C (p.Leu997Phe) rs1804093530
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr) rs1809030198
NM_017780.4(CHD7):c.3001A>C (p.Ile1001Leu)
NM_017780.4(CHD7):c.3005A>T (p.Gln1002Leu) rs1223377243
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys) rs1804094552
NM_017780.4(CHD7):c.3036G>C (p.Leu1012Phe) rs1804095307
NM_017780.4(CHD7):c.3041G>A (p.Gly1014Glu)
NM_017780.4(CHD7):c.305A>G (p.His102Arg)
NM_017780.4(CHD7):c.3061G>T (p.Val1021Leu)
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
NM_017780.4(CHD7):c.3126C>A (p.Asn1042Lys) rs568551629
NM_017780.4(CHD7):c.312G>T (p.Gln104His)
NM_017780.4(CHD7):c.3130G>A (p.Val1044Ile) rs2150750448
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) rs750203389
NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe)
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro)
NM_017780.4(CHD7):c.322C>T (p.Pro108Ser)
NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr) rs1804153900
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.3286A>C (p.Asn1096His)
NM_017780.4(CHD7):c.3325A>G (p.Arg1109Gly)
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
NM_017780.4(CHD7):c.3379-9T>A rs1586401989
NM_017780.4(CHD7):c.337G>T (p.Val113Leu) rs2150577960
NM_017780.4(CHD7):c.3395T>A (p.Leu1132Gln)
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3421G>A (p.Val1141Met)
NM_017780.4(CHD7):c.3464G>T (p.Arg1155Leu)
NM_017780.4(CHD7):c.3492A>G (p.Gln1164=) rs1804368569
NM_017780.4(CHD7):c.3502G>A (p.Asp1168Asn) rs2150761332
NM_017780.4(CHD7):c.3517G>A (p.Glu1173Lys) rs2150761372
NM_017780.4(CHD7):c.3522+4T>G
NM_017780.4(CHD7):c.352_360del (p.Ser118_Gly120del)
NM_017780.4(CHD7):c.355G>C (p.Gly119Arg)
NM_017780.4(CHD7):c.3565C>G (p.Arg1189Gly)
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His) rs1554599432
NM_017780.4(CHD7):c.3595G>T (p.Ala1199Ser)
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu) rs1804453835
NM_017780.4(CHD7):c.3602A>G (p.Lys1201Arg)
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp) rs1181372363
NM_017780.4(CHD7):c.3688T>G (p.Ser1230Ala)
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr)
NM_017780.4(CHD7):c.3778+6G>A
NM_017780.4(CHD7):c.3821A>G (p.Asn1274Ser)
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3843G>T (p.Gln1281His) rs745423641
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val) rs1586416413
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn) rs1809038190
NM_017780.4(CHD7):c.3964C>G (p.Leu1322Val)
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) rs1060503186
NM_017780.4(CHD7):c.3990-10T>A
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr) rs1804767147
NM_017780.4(CHD7):c.4073A>G (p.Asp1358Gly) rs2150777199
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp) rs1586417903
NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)
NM_017780.4(CHD7):c.4119T>G (p.Ile1373Met)
NM_017780.4(CHD7):c.4139C>A (p.Thr1380Asn)
NM_017780.4(CHD7):c.4160A>G (p.Asp1387Gly)
NM_017780.4(CHD7):c.4162T>C (p.Trp1388Arg)
NM_017780.4(CHD7):c.4186-3C>G
NM_017780.4(CHD7):c.421A>T (p.Ser141Cys)
NM_017780.4(CHD7):c.4261G>A (p.Glu1421Lys) rs2150778664
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly) rs1804802453
NM_017780.4(CHD7):c.4346C>T (p.Thr1449Ile)
NM_017780.4(CHD7):c.4353+4A>C rs1804804691
NM_017780.4(CHD7):c.4354G>A (p.Val1452Ile)
NM_017780.4(CHD7):c.4385A>G (p.Asp1462Gly)
NM_017780.4(CHD7):c.4388T>C (p.Leu1463Pro) rs2150779325
NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)
NM_017780.4(CHD7):c.4474C>G (p.Leu1492Val)
NM_017780.4(CHD7):c.4505C>T (p.Ser1502Leu)
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4613C>G (p.Ala1538Gly)
NM_017780.4(CHD7):c.462C>G (p.Asp154Glu)
NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) rs1563648680
NM_017780.4(CHD7):c.4664C>A (p.Thr1555Asn)
NM_017780.4(CHD7):c.466A>C (p.Ile156Leu) rs2150578286
NM_017780.4(CHD7):c.466A>G (p.Ile156Val)
NM_017780.4(CHD7):c.4671A>G (p.Arg1557=) rs2150786548
NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)
NM_017780.4(CHD7):c.4698T>G (p.Ser1566Arg)
NM_017780.4(CHD7):c.4721T>C (p.Met1574Thr)
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)
NM_017780.4(CHD7):c.473C>A (p.Ala158Asp)
NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)
NM_017780.4(CHD7):c.4748C>T (p.Ser1583Phe)
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser) rs2150786767
NM_017780.4(CHD7):c.4775G>A (p.Arg1592Gln) rs1388750390
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly) rs1057521078
NM_017780.4(CHD7):c.478T>A (p.Tyr160Asn)
NM_017780.4(CHD7):c.4796A>G (p.Gln1599Arg)
NM_017780.4(CHD7):c.4798G>A (p.Gly1600Ser) rs2150786873
NM_017780.4(CHD7):c.4802A>T (p.Tyr1601Phe) rs2150786892
NM_017780.4(CHD7):c.481_482delinsAG (p.Gln161Arg) rs2150578323
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.4850G>A (p.Gly1617Asp) rs1804999304
NM_017780.4(CHD7):c.4854G>T (p.Trp1618Cys) rs2150792862
NM_017780.4(CHD7):c.4859G>T (p.Arg1620Leu)
NM_017780.4(CHD7):c.4886G>A (p.Arg1629His)
NM_017780.4(CHD7):c.4886G>C (p.Arg1629Pro)
NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
NM_017780.4(CHD7):c.4939C>A (p.Leu1647Met) rs913573032
NM_017780.4(CHD7):c.4951C>G (p.Leu1651Val)
NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4]) rs758131874
NM_017780.4(CHD7):c.4964A>G (p.Lys1655Arg)
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln) rs1805142705
NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu) rs2150793254
NM_017780.4(CHD7):c.498_506del (p.167PQP[1])
NM_017780.4(CHD7):c.499_516del (p.Pro167_Pro172del)
NM_017780.4(CHD7):c.5005A>C (p.Thr1669Pro)
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg) rs921201693
NM_017780.4(CHD7):c.5050+5G>T
NM_017780.4(CHD7):c.5062C>T (p.Pro1688Ser)
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala) rs2150793920
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn) rs1805156340
NM_017780.4(CHD7):c.5092G>A (p.Val1698Met)
NM_017780.4(CHD7):c.5114C>G (p.Pro1705Arg) rs373986410
NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg) rs2150578491
NM_017780.4(CHD7):c.5136G>C (p.Trp1712Cys)
NM_017780.4(CHD7):c.520C>T (p.Pro174Ser)
NM_017780.4(CHD7):c.5210+5G>C
NM_017780.4(CHD7):c.5221C>T (p.Arg1741Cys)
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro) rs1586437186
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His) rs1805312207
NM_017780.4(CHD7):c.5265C>A (p.Asp1755Glu) rs2150800547
NM_017780.4(CHD7):c.5301-3C>T
NM_017780.4(CHD7):c.530C>T (p.Pro177Leu)
NM_017780.4(CHD7):c.5327C>G (p.Pro1776Arg) rs759486970
NM_017780.4(CHD7):c.5330T>G (p.Phe1777Cys)
NM_017780.4(CHD7):c.5366A>G (p.Glu1789Gly)
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) rs1554603283
NM_017780.4(CHD7):c.5384T>C (p.Leu1795Ser)
NM_017780.4(CHD7):c.5387T>C (p.Ile1796Thr)
NM_017780.4(CHD7):c.5393T>A (p.Val1798Glu) rs1805341017
NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)
NM_017780.4(CHD7):c.539A>G (p.Gln180Arg)
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn) rs1280305079
NM_017780.4(CHD7):c.5400A>T (p.Lys1800Asn)
NM_017780.4(CHD7):c.5401C>T (p.His1801Tyr) rs1131692039
NM_017780.4(CHD7):c.5403T>C (p.His1801=)
NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp) rs1805405695
NM_017780.4(CHD7):c.5414A>G (p.Lys1805Arg)
NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr) rs1001632406
NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser)
NM_017780.4(CHD7):c.5452C>A (p.Leu1818Met)
NM_017780.4(CHD7):c.5464G>A (p.Gly1822Ser)
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
NM_017780.4(CHD7):c.5518G>C (p.Ala1840Pro)
NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser) rs1563657571
NM_017780.4(CHD7):c.5533G>C (p.Gly1845Arg) rs753347128
NM_017780.4(CHD7):c.5547T>G (p.Asp1849Glu)
NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His)
NM_017780.4(CHD7):c.5573A>T (p.Lys1858Ile)
NM_017780.4(CHD7):c.5575C>A (p.Pro1859Thr)
NM_017780.4(CHD7):c.5578A>G (p.Thr1860Ala)
NM_017780.4(CHD7):c.5585C>T (p.Thr1862Ile)
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln) rs753437069
NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly) rs2150805872
NM_017780.4(CHD7):c.5607+6A>G
NM_017780.4(CHD7):c.5608-10T>A
NM_017780.4(CHD7):c.560A>G (p.Gln187Arg)
NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp) rs1403279129
NM_017780.4(CHD7):c.5638G>A (p.Glu1880Lys)
NM_017780.4(CHD7):c.5647A>G (p.Met1883Val)
NM_017780.4(CHD7):c.565A>T (p.Met189Leu) rs1809055199
NM_017780.4(CHD7):c.5666G>A (p.Gly1889Asp) rs1040512288
NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys)
NM_017780.4(CHD7):c.5707T>C (p.Trp1903Arg)
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
NM_017780.4(CHD7):c.5735G>T (p.Arg1912Leu)
NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro) rs2150807679
NM_017780.4(CHD7):c.5743C>T (p.Arg1915Trp) rs2150807703
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
NM_017780.4(CHD7):c.5784G>C (p.Gln1928His) rs2150807812
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp) rs1809004250
NM_017780.4(CHD7):c.5803A>C (p.Met1935Leu)
NM_017780.4(CHD7):c.5814C>A (p.Asp1938Glu) rs1805481811
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly) rs992024213
NM_017780.4(CHD7):c.5815C>T (p.Arg1939Trp)
NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro)
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly) rs752539596
NM_017780.4(CHD7):c.5831C>G (p.Pro1944Arg)
NM_017780.4(CHD7):c.5842G>A (p.Val1948Met)
NM_017780.4(CHD7):c.5853_5855del (p.Glu1952del)
NM_017780.4(CHD7):c.5856A>C (p.Glu1952Asp) rs755290171
NM_017780.4(CHD7):c.5869G>A (p.Ala1957Thr) rs1586443930
NM_017780.4(CHD7):c.5888G>T (p.Arg1963Leu)
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
NM_017780.4(CHD7):c.5895-8T>G rs1220156630
NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys)
NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)
NM_017780.4(CHD7):c.5939C>A (p.Thr1980Asn)
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) rs1805501302
NM_017780.4(CHD7):c.5952T>G (p.Ile1984Met)
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu) rs1805502860
NM_017780.4(CHD7):c.6001G>A (p.Ala2001Thr)
NM_017780.4(CHD7):c.6026A>G (p.Glu2009Gly)
NM_017780.4(CHD7):c.6028A>G (p.Ser2010Gly)
NM_017780.4(CHD7):c.604C>A (p.Gln202Lys)
NM_017780.4(CHD7):c.6085C>A (p.Pro2029Thr) rs1805506718
NM_017780.4(CHD7):c.6103+3A>G
NM_017780.4(CHD7):c.6103+9A>G rs1805508072
NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)
NM_017780.4(CHD7):c.6160A>G (p.Thr2054Ala) rs2150809564
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val) rs1302545775
NM_017780.4(CHD7):c.6185G>A (p.Arg2062Gln)
NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val)
NM_017780.4(CHD7):c.6251G>A (p.Ser2084Asn)
NM_017780.4(CHD7):c.6305T>G (p.Val2102Gly)
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.630G>C (p.Met210Ile) rs560742342
NM_017780.4(CHD7):c.6321C>A (p.His2107Gln)
NM_017780.4(CHD7):c.6341A>G (p.Tyr2114Cys)
NM_017780.4(CHD7):c.6348C>G (p.Ile2116Met)
NM_017780.4(CHD7):c.6349C>G (p.Leu2117Val)
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
NM_017780.4(CHD7):c.636G>T (p.Gln212His)
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr) rs1162346018
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu) rs1563660814
NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
NM_017780.4(CHD7):c.6433C>T (p.Pro2145Ser)
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly) rs966839733
NM_017780.4(CHD7):c.6450T>A (p.Phe2150Leu)
NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu) rs1805544418
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser) rs1805544569
NM_017780.4(CHD7):c.6485T>G (p.Ile2162Ser)
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly) rs1805551737
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met) rs749435288
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu) rs2150810874
NM_017780.4(CHD7):c.6565G>A (p.Gly2189Ser)
NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.6603G>C (p.Lys2201Asn)
NM_017780.4(CHD7):c.6615G>C (p.Gln2205His)
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp) rs979421697
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp) rs1398262614
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
NM_017780.4(CHD7):c.665A>C (p.Gln222Pro)
NM_017780.4(CHD7):c.6704A>C (p.Lys2235Thr)
NM_017780.4(CHD7):c.6710C>A (p.Ser2237Tyr)
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser) rs1809061303
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu) rs1805568530
NM_017780.4(CHD7):c.6731A>G (p.Lys2244Arg)
NM_017780.4(CHD7):c.6734T>A (p.Leu2245Gln) rs2150811434
NM_017780.4(CHD7):c.6734T>C (p.Leu2245Pro)
NM_017780.4(CHD7):c.6752C>T (p.Ser2251Leu)
NM_017780.4(CHD7):c.6758A>G (p.Glu2253Gly) rs1805571750
NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val)
NM_017780.4(CHD7):c.6770C>T (p.Pro2257Leu) rs2150811546
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
NM_017780.4(CHD7):c.677T>A (p.Phe226Tyr)
NM_017780.4(CHD7):c.6784G>C (p.Val2262Leu)
NM_017780.4(CHD7):c.6791G>C (p.Arg2264Thr)
NM_017780.4(CHD7):c.6821C>T (p.Ala2274Val)
NM_017780.4(CHD7):c.6826A>T (p.Met2276Leu)
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly) rs587783454
NM_017780.4(CHD7):c.6865A>G (p.Met2289Val)
NM_017780.4(CHD7):c.6880C>A (p.Pro2294Thr) rs767696409
NM_017780.4(CHD7):c.6892C>G (p.Gln2298Glu) rs1057518891
NM_017780.4(CHD7):c.6894G>C (p.Gln2298His)
NM_017780.4(CHD7):c.6898C>A (p.Leu2300Ile)
NM_017780.4(CHD7):c.6908G>C (p.Arg2303Thr)
NM_017780.4(CHD7):c.692G>C (p.Gly231Ala)
NM_017780.4(CHD7):c.6935A>G (p.Lys2312Arg) rs2150813712
NM_017780.4(CHD7):c.6938A>G (p.Asp2313Gly) rs1805682626
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly) rs1427557686
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)
NM_017780.4(CHD7):c.6996G>T (p.Trp2332Cys) rs2129642460
NM_017780.4(CHD7):c.7007G>A (p.Arg2336Lys) rs2129642540
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7015A>T (p.Met2339Leu) rs1184188163
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7048A>G (p.Thr2350Ala)
NM_017780.4(CHD7):c.7065C>G (p.Asp2355Glu) rs2129643081
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7097_7098delinsAT (p.Leu2366His)
NM_017780.4(CHD7):c.709C>T (p.His237Tyr)
NM_017780.4(CHD7):c.70C>T (p.Leu24Phe)
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7109G>T (p.Gly2370Val) rs531223140
NM_017780.4(CHD7):c.7144A>G (p.Thr2382Ala)
NM_017780.4(CHD7):c.7157T>G (p.Leu2386Trp) rs2129644202
NM_017780.4(CHD7):c.7165-3T>C
NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe) rs1168283468
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys)
NM_017780.4(CHD7):c.719A>G (p.Gln240Arg) rs2150579002
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del) rs374380640
NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp) rs1805714852
NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile)
NM_017780.4(CHD7):c.7240G>A (p.Ala2414Thr)
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe) rs1805719418
NM_017780.4(CHD7):c.7250G>A (p.Arg2417Lys) rs776169011
NM_017780.4(CHD7):c.7250G>C (p.Arg2417Thr)
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) rs1805721790
NM_017780.4(CHD7):c.7269G>A (p.Met2423Ile) rs2129648356
NM_017780.4(CHD7):c.7278G>C (p.Gln2426His)
NM_017780.4(CHD7):c.7307A>G (p.Asn2436Ser)
NM_017780.4(CHD7):c.7308T>A (p.Asn2436Lys)
NM_017780.4(CHD7):c.7310G>A (p.Gly2437Glu)
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly) rs2129649399
NM_017780.4(CHD7):c.7338G>T (p.Lys2446Asn)
NM_017780.4(CHD7):c.7391A>G (p.Lys2464Arg)
NM_017780.4(CHD7):c.7394T>G (p.Phe2465Cys)
NM_017780.4(CHD7):c.7434T>G (p.Phe2478Leu) rs2129651052
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro) rs1319276265
NM_017780.4(CHD7):c.746T>C (p.Leu249Ser)
NM_017780.4(CHD7):c.7490T>C (p.Leu2497Pro)
NM_017780.4(CHD7):c.7499G>T (p.Gly2500Val)
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln) rs1805738026
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser) rs1805738363
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly) rs1805740102
NM_017780.4(CHD7):c.7601T>C (p.Leu2534Ser)
NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu) rs1554581354
NM_017780.4(CHD7):c.7616C>T (p.Ala2539Val)
NM_017780.4(CHD7):c.7631C>T (p.Ala2544Val)
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser) rs1805939500
NM_017780.4(CHD7):c.7657C>T (p.Pro2553Ser)
NM_017780.4(CHD7):c.767T>A (p.Phe256Tyr) rs2150579155
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)
NM_017780.4(CHD7):c.7706T>C (p.Ile2569Thr)
NM_017780.4(CHD7):c.7711G>A (p.Val2571Ile) rs2129704568
NM_017780.4(CHD7):c.7717A>G (p.Asn2573Asp)
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu) rs1408626113
NM_017780.4(CHD7):c.778C>A (p.Pro260Thr)
NM_017780.4(CHD7):c.7795C>T (p.Pro2599Ser) rs1805948281
NM_017780.4(CHD7):c.7798A>G (p.Thr2600Ala)
NM_017780.4(CHD7):c.7804A>G (p.Thr2602Ala)
NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile)
NM_017780.4(CHD7):c.7810G>C (p.Asp2604His)
NM_017780.4(CHD7):c.7830+5G>A
NM_017780.4(CHD7):c.7834A>C (p.Asn2612His)
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala) rs1586462216
NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro)
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn) rs1586462281
NM_017780.4(CHD7):c.7900A>G (p.Asn2634Asp)
NM_017780.4(CHD7):c.7925C>T (p.Thr2642Ile)
NM_017780.4(CHD7):c.7938G>C (p.Arg2646Ser)
NM_017780.4(CHD7):c.7940T>C (p.Val2647Ala)
NM_017780.4(CHD7):c.7971+6C>G rs769103057
NM_017780.4(CHD7):c.7971+6C>T rs769103057
NM_017780.4(CHD7):c.7996A>G (p.Met2666Val) rs2129725268
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys) rs1586462940
NM_017780.4(CHD7):c.8045C>A (p.Ala2682Asp)
NM_017780.4(CHD7):c.8047C>G (p.Pro2683Ala)
NM_017780.4(CHD7):c.8056A>G (p.Thr2686Ala)
NM_017780.4(CHD7):c.8076+6T>C
NM_017780.4(CHD7):c.8077G>A (p.Gly2693Ser) rs1563673201
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys) rs1373315351
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His) rs1563673267
NM_017780.4(CHD7):c.8105G>T (p.Arg2702Leu)
NM_017780.4(CHD7):c.8126T>C (p.Val2709Ala) rs1806175791
NM_017780.4(CHD7):c.8131G>A (p.Gly2711Arg)
NM_017780.4(CHD7):c.8131G>C (p.Gly2711Arg) rs1418830724
NM_017780.4(CHD7):c.8138G>A (p.Gly2713Glu)
NM_017780.4(CHD7):c.813C>G (p.His271Gln)
NM_017780.4(CHD7):c.8146A>G (p.Arg2716Gly)
NM_017780.4(CHD7):c.8164A>C (p.Lys2722Gln) rs1586467143
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu) rs1586467143
NM_017780.4(CHD7):c.8173A>G (p.Ile2725Val) rs113877656
NM_017780.4(CHD7):c.8176G>T (p.Ala2726Ser)
NM_017780.4(CHD7):c.8177C>T (p.Ala2726Val)
NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser) rs757725468
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) rs1806179701
NM_017780.4(CHD7):c.8209T>A (p.Ser2737Thr)
NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg)
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser) rs1806181643
NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser) rs1586467380
NM_017780.4(CHD7):c.8244C>G (p.Ser2748Arg)
NM_017780.4(CHD7):c.8255G>T (p.Gly2752Val)
NM_017780.4(CHD7):c.8262C>G (p.Asp2754Glu) rs1369699481
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_017780.4(CHD7):c.8278AATCTCCAG[3] (p.2760NLQ[3]) rs747665912
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His) rs758898311
NM_017780.4(CHD7):c.829C>G (p.Pro277Ala)
NM_017780.4(CHD7):c.8304G>C (p.Gln2768His)
NM_017780.4(CHD7):c.8314C>T (p.Leu2772Phe)
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8329C>A (p.Pro2777Thr)
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg) rs1586467620
NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp) rs1809007164
NM_017780.4(CHD7):c.8407A>G (p.Met2803Val) rs2129762926
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) rs770781688
NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys) rs759567393
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr) rs368224943
NM_017780.4(CHD7):c.8467G>T (p.Ala2823Ser)
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro) rs1373512004
NM_017780.4(CHD7):c.847G>A (p.Gly283Arg)
NM_017780.4(CHD7):c.8482A>G (p.Thr2828Ala)
NM_017780.4(CHD7):c.8510A>G (p.Glu2837Gly)
NM_017780.4(CHD7):c.8538_8549dup (p.Lys2846_Glu2849dup) rs2129765422
NM_017780.4(CHD7):c.853G>A (p.Val285Ile)
NM_017780.4(CHD7):c.854T>C (p.Val285Ala)
NM_017780.4(CHD7):c.8550T>G (p.Asn2850Lys)
NM_017780.4(CHD7):c.8579G>A (p.Ser2860Asn) rs2129766206
NM_017780.4(CHD7):c.8599G>A (p.Ala2867Thr) rs2129766536
NM_017780.4(CHD7):c.8615G>C (p.Gly2872Ala)
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8645G>T (p.Gly2882Val) rs2129767368
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile) rs202039728
NM_017780.4(CHD7):c.868C>G (p.Leu290Val)
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln) rs780993039
NM_017780.4(CHD7):c.8713C>T (p.Pro2905Ser)
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg) rs1806214950
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser) rs1586469053
NM_017780.4(CHD7):c.878G>A (p.Ser293Asn) rs1809079469
NM_017780.4(CHD7):c.8791G>C (p.Val2931Leu)
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly) rs1024326558
NM_017780.4(CHD7):c.8818G>A (p.Asp2940Asn)
NM_017780.4(CHD7):c.881C>G (p.Ser294Cys)
NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu)
NM_017780.4(CHD7):c.8836C>A (p.Pro2946Thr)
NM_017780.4(CHD7):c.8837C>A (p.Pro2946His)
NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
NM_017780.4(CHD7):c.8846A>T (p.Asp2949Val)
NM_017780.4(CHD7):c.8873C>T (p.Ala2958Val) rs2129771571
NM_017780.4(CHD7):c.8875G>A (p.Glu2959Lys)
NM_017780.4(CHD7):c.8879_8881dup (p.Glu2960_Ser2961insLys)
NM_017780.4(CHD7):c.892A>C (p.Thr298Pro)
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp)
NM_017780.4(CHD7):c.8933G>C (p.Gly2978Ala)
NM_017780.4(CHD7):c.8933G>T (p.Gly2978Val)
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
NM_017780.4(CHD7):c.8953G>T (p.Asp2985Tyr)
NM_017780.4(CHD7):c.8957G>A (p.Gly2986Glu)
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val) rs374004489
NM_017780.4(CHD7):c.895G>T (p.Val299Phe)
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8984A>G (p.Asn2995Ser)
NM_017780.4(CHD7):c.901T>C (p.Ser301Pro)
NM_017780.4(CHD7):c.902C>T (p.Ser301Phe)
NM_017780.4(CHD7):c.926A>G (p.Gln309Arg)
NM_017780.4(CHD7):c.935G>C (p.Arg312Pro)
NM_017780.4(CHD7):c.940C>A (p.Pro314Thr)
NM_017780.4(CHD7):c.944A>G (p.Tyr315Cys)
NM_017780.4(CHD7):c.967G>A (p.Val323Ile)
NM_017780.4(CHD7):c.973A>C (p.Asn325His) rs1563561089
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu) rs1809088428
NM_017780.4(CHD7):c.982A>T (p.Met328Leu) rs747112804
NM_017780.4(CHD7):c.988C>A (p.Gln330Lys)

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