ClinVar Miner

List of variants in gene CHD7 reported as likely benign for CHARGE association

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 964
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HGVS dbSNP gnomAD frequency
NM_017780.3(CHD7):c.*2104T>A rs16926520 0.11399
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_017780.4(CHD7):c.3989+9C>T rs373206209 0.00029
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=) rs188679907 0.00029
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) rs201470035 0.00024
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_017780.4(CHD7):c.843A>G (p.Gln281=) rs764411605 0.00016
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972 0.00015
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=) rs201046385 0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664 0.00013
NM_017780.4(CHD7):c.1245G>A (p.Pro415=) rs745900311 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) rs534427466 0.00012
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146 0.00011
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177 0.00011
NM_017780.4(CHD7):c.4146C>T (p.Ile1382=) rs372318215 0.00011
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455 0.00011
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 0.00010
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=) rs760166848 0.00009
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523 0.00009
NM_017780.4(CHD7):c.5895-67A>G rs528151295 0.00009
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) rs752966093 0.00009
NM_017780.4(CHD7):c.698G>A (p.Gly233Asp) rs778249500 0.00009
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile) rs199953550 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220 0.00008
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293 0.00008
NM_017780.4(CHD7):c.4644+17A>G rs376953317 0.00008
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg) rs764496155 0.00008
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=) rs375969680 0.00008
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=) rs200747690 0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met) rs370271088 0.00008
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val) rs370304926 0.00007
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu) rs367557471 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090 0.00007
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600 0.00007
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472 0.00007
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_017780.4(CHD7):c.1050T>C (p.Ala350=) rs777423713 0.00006
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424 0.00006
NM_017780.4(CHD7):c.1659G>C (p.Val553=) rs1320484884 0.00006
NM_017780.4(CHD7):c.2946T>C (p.Asn982=) rs752803020 0.00006
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) rs568551629 0.00006
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 0.00006
NM_017780.4(CHD7):c.3523-12G>A rs373865383 0.00006
NM_017780.4(CHD7):c.381T>C (p.Pro127=) rs373676882 0.00006
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00006
NM_017780.4(CHD7):c.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.4850+6T>A rs745527754 0.00006
NM_017780.4(CHD7):c.4920A>G (p.Glu1640=) rs757952334 0.00006
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00006
NM_017780.4(CHD7):c.522G>A (p.Pro174=) rs577112542 0.00006
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys) rs904822604 0.00006
NM_017780.4(CHD7):c.6831C>T (p.Ser2277=) rs572350789 0.00006
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg) rs777303307 0.00006
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=) rs749381782 0.00006
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) rs767067759 0.00006
NM_017780.4(CHD7):c.4416C>A (p.Leu1472=) rs546733576 0.00005
NM_017780.4(CHD7):c.5301-13T>C rs368716487 0.00005
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993 0.00005
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832 0.00005
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met) rs372078650 0.00005
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=) rs200792215 0.00005
NM_017780.4(CHD7):c.8568C>T (p.Asp2856=) rs539868738 0.00005
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842 0.00004
NM_017780.4(CHD7):c.2097-9G>C rs759100071 0.00004
NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn) rs753687437 0.00004
NM_017780.4(CHD7):c.2238+12A>G rs752854030 0.00004
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440 0.00004
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.294C>T (p.Leu98=) rs372513999 0.00004
NM_017780.4(CHD7):c.2958-16C>A rs772885661 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_017780.4(CHD7):c.4533+9C>T rs1047944999 0.00004
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys) rs745837768 0.00004
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) rs777652245 0.00004
NM_017780.4(CHD7):c.5051-14G>T rs766512334 0.00004
NM_017780.4(CHD7):c.5196G>A (p.Lys1732=) rs755703816 0.00004
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) rs767279224 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.5405-18C>T rs199981784 0.00004
NM_017780.4(CHD7):c.5405-8C>T rs755505152 0.00004
NM_017780.4(CHD7):c.5409T>C (p.Tyr1803=) rs1021645395 0.00004
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) rs376806146 0.00004
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) rs764844969 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) rs369543203 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 0.00004
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567 0.00004
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met) rs758409717 0.00004
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys) rs918223900 0.00004
NM_017780.4(CHD7):c.6775+13C>T rs775198282 0.00004
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) rs368750638 0.00004
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659 0.00004
NM_017780.4(CHD7):c.7308T>C (p.Asn2436=) rs375586969 0.00004
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) rs764110898 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7680C>T (p.Pro2560=) rs761548538 0.00004
NM_017780.4(CHD7):c.7831-3C>T rs148884686 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446 0.00004
NM_017780.4(CHD7):c.8355C>T (p.Ala2785=) rs370131873 0.00004
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly) rs774242976 0.00004
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.8874C>T (p.Ala2958=) rs377755006 0.00004
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649 0.00004
NM_017780.4(CHD7):c.1380A>G (p.Pro460=) rs746064587 0.00003
NM_017780.4(CHD7):c.1563G>A (p.Pro521=) rs765356585 0.00003
NM_017780.4(CHD7):c.1644G>A (p.Pro548=) rs748842029 0.00003
NM_017780.4(CHD7):c.2097-20C>T rs569155117 0.00003
NM_017780.4(CHD7):c.2176G>T (p.Asp726Tyr) rs748119797 0.00003
NM_017780.4(CHD7):c.2307T>C (p.Asp769=) rs574260169 0.00003
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996 0.00003
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849 0.00003
NM_017780.4(CHD7):c.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) rs200565677 0.00003
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721 0.00003
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=) rs1278636503 0.00003
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=) rs746168554 0.00003
NM_017780.4(CHD7):c.4534-19G>A rs1386563597 0.00003
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00003
NM_017780.4(CHD7):c.5211-12C>T rs752789319 0.00003
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129 0.00003
NM_017780.4(CHD7):c.5535-4A>G rs777671269 0.00003
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00003
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu) rs373241264 0.00003
NM_017780.4(CHD7):c.6480T>G (p.Ala2160=) rs746037662 0.00003
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) rs750047137 0.00003
NM_017780.4(CHD7):c.6669C>T (p.Val2223=) rs556577614 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser) rs763058890 0.00003
NM_017780.4(CHD7):c.7107C>T (p.Val2369=) rs773674773 0.00003
NM_017780.4(CHD7):c.7248G>A (p.Lys2416=) rs768074891 0.00003
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) rs751931671 0.00003
NM_017780.4(CHD7):c.7591C>T (p.Arg2531Trp) rs369550114 0.00003
NM_017780.4(CHD7):c.7746G>A (p.Gly2582=) rs746591351 0.00003
NM_017780.4(CHD7):c.8508G>A (p.Pro2836=) rs371399850 0.00003
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) rs756572992 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_017780.4(CHD7):c.8802C>T (p.Ser2934=) rs778908675 0.00003
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694 0.00002
NM_017780.4(CHD7):c.208G>C (p.Asp70His) rs759847780 0.00002
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889 0.00002
NM_017780.4(CHD7):c.2443-4dup rs1207292215 0.00002
NM_017780.4(CHD7):c.2523A>G (p.Ala841=) rs970128606 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.3711C>T (p.Asn1237=) rs372498366 0.00002
NM_017780.4(CHD7):c.3989+7A>G rs757622396 0.00002
NM_017780.4(CHD7):c.4002A>G (p.Glu1334=) rs752377617 0.00002
NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln) rs770876591 0.00002
NM_017780.4(CHD7):c.4185+19C>T rs767064028 0.00002
NM_017780.4(CHD7):c.4359A>G (p.Gln1453=) rs749531765 0.00002
NM_017780.4(CHD7):c.4534-4T>G rs762875935 0.00002
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=) rs777176819 0.00002
NM_017780.4(CHD7):c.4746T>C (p.Asp1582=) rs771978086 0.00002
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp) rs773187713 0.00002
NM_017780.4(CHD7):c.4850+19G>A rs746769941 0.00002
NM_017780.4(CHD7):c.5016G>A (p.Ala1672=) rs370321135 0.00002
NM_017780.4(CHD7):c.5050+20T>A rs760955712 0.00002
NM_017780.4(CHD7):c.516G>A (p.Pro172=) rs377332156 0.00002
NM_017780.4(CHD7):c.5210+16G>T rs747154720 0.00002
NM_017780.4(CHD7):c.5214C>T (p.Val1738=) rs756430456 0.00002
NM_017780.4(CHD7):c.561G>A (p.Gln187=) rs181083503 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.6087C>T (p.Pro2029=) rs550461070 0.00002
NM_017780.4(CHD7):c.6104-9G>A rs567669913 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=) rs572098274 0.00002
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu) rs373370399 0.00002
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) rs1450918582 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 0.00002
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.7971+7G>A rs554518877 0.00002
NM_017780.4(CHD7):c.8214G>A (p.Thr2738=) rs199570256 0.00002
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) rs752708986 0.00002
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) rs748655442 0.00002
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala) rs766747354 0.00001
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378 0.00001
NM_017780.4(CHD7):c.1310A>G (p.His437Arg) rs746261185 0.00001
NM_017780.4(CHD7):c.1361A>G (p.Asn454Ser) rs766249962 0.00001
NM_017780.4(CHD7):c.1395C>T (p.Ser465=) rs747525292 0.00001
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430 0.00001
NM_017780.4(CHD7):c.1539C>T (p.Thr513=) rs777411052 0.00001
NM_017780.4(CHD7):c.156A>G (p.Pro52=) rs398124315 0.00001
NM_017780.4(CHD7):c.1626A>G (p.Pro542=) rs747791210 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.1665+17C>T rs760402351 0.00001
NM_017780.4(CHD7):c.168T>C (p.His56=) rs199776087 0.00001
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176 0.00001
NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu) rs771267153 0.00001
NM_017780.4(CHD7):c.2377-13C>A rs747682287 0.00001
NM_017780.4(CHD7):c.2442+17C>T rs766555433 0.00001
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) rs772358323 0.00001
NM_017780.4(CHD7):c.258G>A (p.Pro86=) rs750046226 0.00001
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) rs587783433 0.00001
NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn) rs1330677850 0.00001
NM_017780.4(CHD7):c.2697+20A>G rs759236343 0.00001
NM_017780.4(CHD7):c.276C>T (p.Asn92=) rs779967922 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.2839C>A (p.Arg947=) rs200220845 0.00001
NM_017780.4(CHD7):c.297G>A (p.Ala99=) rs775823361 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.3160C>T (p.Arg1054Trp) rs1563631484 0.00001
NM_017780.4(CHD7):c.3202-7C>G rs376893919 0.00001
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln) rs1346050533 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307 0.00001
NM_017780.4(CHD7):c.3324C>T (p.His1108=) rs189618218 0.00001
NM_017780.4(CHD7):c.3378+16G>A rs771299507 0.00001
NM_017780.4(CHD7):c.33C>T (p.Gly11=) rs560030949 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) rs371212381 0.00001
NM_017780.4(CHD7):c.3522+14C>G rs752672896 0.00001
NM_017780.4(CHD7):c.3525G>A (p.Val1175=) rs1804451207 0.00001
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=) rs748869169 0.00001
NM_017780.4(CHD7):c.3778+10C>T rs756438089 0.00001
NM_017780.4(CHD7):c.3778+16T>G rs1037329080 0.00001
NM_017780.4(CHD7):c.3778+18G>A rs749741616 0.00001
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979 0.00001
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) rs747100145 0.00001
NM_017780.4(CHD7):c.405G>A (p.Gly135=) rs1586248250 0.00001
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602 0.00001
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=) rs898986489 0.00001
NM_017780.4(CHD7):c.4260T>C (p.Tyr1420=) rs376148485 0.00001
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=) rs760088130 0.00001
NM_017780.4(CHD7):c.4354-7A>G rs778196351 0.00001
NM_017780.4(CHD7):c.4392A>G (p.Leu1464=) rs1280225379 0.00001
NM_017780.4(CHD7):c.4446C>T (p.Phe1482=) rs1804820497 0.00001
NM_017780.4(CHD7):c.4644+20C>T rs1168248095 0.00001
NM_017780.4(CHD7):c.474C>T (p.Ala158=) rs1056527329 0.00001
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys) rs763070165 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.4782C>G (p.Pro1594=) rs751778680 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.4850+13C>T rs1311582288 0.00001
NM_017780.4(CHD7):c.4850+16T>G rs1374096411 0.00001
NM_017780.4(CHD7):c.4850+18C>T rs375486200 0.00001
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=) rs1441410913 0.00001
NM_017780.4(CHD7):c.486G>A (p.Gln162=) rs201635864 0.00001
NM_017780.4(CHD7):c.4899A>G (p.Gln1633=) rs761002319 0.00001
NM_017780.4(CHD7):c.498G>A (p.Gln166=) rs1223182973 0.00001
NM_017780.4(CHD7):c.501G>A (p.Pro167=) rs770348243 0.00001
NM_017780.4(CHD7):c.5025G>A (p.Gln1675=) rs769769149 0.00001
NM_017780.4(CHD7):c.5051-17T>G rs754678467 0.00001
NM_017780.4(CHD7):c.5067G>A (p.Val1689=) rs912054705 0.00001
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699 0.00001
NM_017780.4(CHD7):c.5154A>C (p.Pro1718=) rs988819155 0.00001
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=) rs766759257 0.00001
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796 0.00001
NM_017780.4(CHD7):c.5210+20A>G rs781624235 0.00001
NM_017780.4(CHD7):c.5211-17T>C rs1805309524 0.00001
NM_017780.4(CHD7):c.5211-19C>A rs371367716 0.00001
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn) rs762824174 0.00001
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157 0.00001
NM_017780.4(CHD7):c.5404+10G>A rs780602451 0.00001
NM_017780.4(CHD7):c.5404+9C>T rs755413885 0.00001
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) rs755632561 0.00001
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=) rs558567843 0.00001
NM_017780.4(CHD7):c.5493C>T (p.Ala1831=) rs773211166 0.00001
NM_017780.4(CHD7):c.549T>C (p.Pro183=) rs775862054 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017780.4(CHD7):c.5532C>T (p.Asp1844=) rs368279646 0.00001
NM_017780.4(CHD7):c.5565A>G (p.Pro1855=) rs752961577 0.00001
NM_017780.4(CHD7):c.5665+9C>T rs568256905 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.577A>G (p.Met193Val) rs542672517 0.00001
NM_017780.4(CHD7):c.5811T>C (p.Thr1937=) rs370573809 0.00001
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=) rs1448374029 0.00001
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00001
NM_017780.4(CHD7):c.6104-5T>C rs376131239 0.00001
NM_017780.4(CHD7):c.6207C>T (p.Leu2069=) rs755379819 0.00001
NM_017780.4(CHD7):c.6214C>T (p.Pro2072Ser) rs780772673 0.00001
NM_017780.4(CHD7):c.6225A>G (p.Gly2075=) rs886038635 0.00001
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) rs773114816 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017780.4(CHD7):c.6396T>C (p.Ala2132=) rs763720460 0.00001
NM_017780.4(CHD7):c.6459T>C (p.Thr2153=) rs1484332534 0.00001
NM_017780.4(CHD7):c.6471C>T (p.Ile2157=) rs1170403904 0.00001
NM_017780.4(CHD7):c.6624G>A (p.Glu2208=) rs762541154 0.00001
NM_017780.4(CHD7):c.6753G>A (p.Ser2251=) rs755202253 0.00001
NM_017780.4(CHD7):c.6775+10T>C rs180852795 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) rs542880173 0.00001
NM_017780.4(CHD7):c.6936+19C>G rs1410303595 0.00001
NM_017780.4(CHD7):c.6937-8C>T rs765520430 0.00001
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) rs763555514 0.00001
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile) rs1247369056 0.00001
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749 0.00001
NM_017780.4(CHD7):c.705G>A (p.Leu235=) rs918029767 0.00001
NM_017780.4(CHD7):c.711C>T (p.His237=) rs1188337353 0.00001
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017780.4(CHD7):c.7221C>T (p.Ile2407=) rs777847508 0.00001
NM_017780.4(CHD7):c.7224A>G (p.Glu2408=) rs749492213 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.7380T>G (p.Ser2460=) rs1259500954 0.00001
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123 0.00001
NM_017780.4(CHD7):c.7416A>G (p.Thr2472=) rs769395535 0.00001
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) rs529799008 0.00001
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln) rs1064794649 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) rs754831330 0.00001
NM_017780.4(CHD7):c.7789C>T (p.Leu2597=) rs774537514 0.00001
NM_017780.4(CHD7):c.778C>T (p.Pro260Ser) rs766382878 0.00001
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) rs772124801 0.00001
NM_017780.4(CHD7):c.7818A>G (p.Pro2606=) rs764474527 0.00001
NM_017780.4(CHD7):c.7830+15G>A rs776953479 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.7962T>C (p.Asn2654=) rs1372823546 0.00001
NM_017780.4(CHD7):c.7972-10C>G rs912810188 0.00001
NM_017780.4(CHD7):c.7972-4C>T rs1193013965 0.00001
NM_017780.4(CHD7):c.804C>T (p.Ser268=) rs780756877 0.00001
NM_017780.4(CHD7):c.8067T>G (p.Val2689=) rs772599631 0.00001
NM_017780.4(CHD7):c.813C>T (p.His271=) rs773253450 0.00001
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser) rs1284559737 0.00001
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884 0.00001
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser) rs769500488 0.00001
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) rs759567393 0.00001
NM_017780.4(CHD7):c.8418G>C (p.Leu2806=) rs776919709 0.00001
NM_017780.4(CHD7):c.8424C>T (p.Asn2808=) rs773594482 0.00001
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365 0.00001
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=) rs794727604 0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) rs762290343 0.00001
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674 0.00001
NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg) rs768688793 0.00001
NM_017780.4(CHD7):c.8632A>G (p.Thr2878Ala) rs773395000 0.00001
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) rs1586468596 0.00001
NM_017780.4(CHD7):c.8751G>C (p.Thr2917=) rs761033941 0.00001
NM_017780.4(CHD7):c.884G>A (p.Arg295Gln) rs569799707 0.00001
NM_017780.4(CHD7):c.8856C>A (p.Thr2952=) rs770325741 0.00001
NM_017780.4(CHD7):c.8859T>C (p.Leu2953=) rs1218577575 0.00001
NM_017780.4(CHD7):c.8868C>T (p.Ser2956=) rs575284775 0.00001
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) rs1308226776 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017780.4(CHD7):c.102A>G (p.Val34=) rs1170310957
NM_017780.4(CHD7):c.1035A>C (p.Pro345=)
NM_017780.4(CHD7):c.1092G>A (p.Gln364=) rs1430411532
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1107C>T (p.Pro369=) rs1375829546
NM_017780.4(CHD7):c.1173C>G (p.Ala391=) rs2150580271
NM_017780.4(CHD7):c.1179A>T (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1205T>C (p.Met402Thr) rs775931738
NM_017780.4(CHD7):c.1233A>G (p.Pro411=) rs1809107487
NM_017780.4(CHD7):c.1260A>C (p.Ile420=) rs1332728138
NM_017780.4(CHD7):c.1260A>G (p.Ile420Met) rs1332728138
NM_017780.4(CHD7):c.1311C>T (p.His437=)
NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser) rs772369092
NM_017780.4(CHD7):c.1349T>C (p.Met450Thr)
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg)
NM_017780.4(CHD7):c.1356C>T (p.Pro452=)
NM_017780.4(CHD7):c.141T>C (p.Phe47=) rs2150577522
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1428G>A (p.Arg476=)
NM_017780.4(CHD7):c.1449T>G (p.Val483=)
NM_017780.4(CHD7):c.1451G>T (p.Gly484Val)
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) rs1313748646
NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr)
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) rs1465792260
NM_017780.4(CHD7):c.1556C>T (p.Pro519Leu)
NM_017780.4(CHD7):c.155C>G (p.Pro52Arg)
NM_017780.4(CHD7):c.1581T>C (p.Ser527=)
NM_017780.4(CHD7):c.1632C>G (p.Pro544=) rs45536935
NM_017780.4(CHD7):c.1653G>A (p.Val551=)
NM_017780.4(CHD7):c.1665+10C>G
NM_017780.4(CHD7):c.1665+14G>C
NM_017780.4(CHD7):c.1665+16G>A rs2150581557
NM_017780.4(CHD7):c.1665+20A>C
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
NM_017780.4(CHD7):c.2097-14A>G
NM_017780.4(CHD7):c.2118A>G (p.Glu706=) rs2150697530
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp)
NM_017780.4(CHD7):c.2175A>C (p.Ser725=)
NM_017780.4(CHD7):c.2187A>G (p.Lys729=) rs1405754910
NM_017780.4(CHD7):c.2196A>G (p.Pro732=)
NM_017780.4(CHD7):c.2199A>G (p.Pro733=)
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn) rs776372236
NM_017780.4(CHD7):c.2232T>G (p.Gly744=)
NM_017780.4(CHD7):c.2238+7C>T
NM_017780.4(CHD7):c.2260G>C (p.Val754Leu)
NM_017780.4(CHD7):c.2265G>A (p.Lys755=)
NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg)
NM_017780.4(CHD7):c.2283A>G (p.Glu761=) rs1372243680
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val)
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2376+8C>A rs1331200503
NM_017780.4(CHD7):c.2376+8C>T
NM_017780.4(CHD7):c.2376+9C>T rs2150709106
NM_017780.4(CHD7):c.2377-16A>G
NM_017780.4(CHD7):c.2377-17C>T rs1586352662
NM_017780.4(CHD7):c.2377-8T>G rs777518407
NM_017780.4(CHD7):c.2377-9T>C
NM_017780.4(CHD7):c.2391A>G (p.Ala797=)
NM_017780.4(CHD7):c.2400A>C (p.Pro800=) rs1586352829
NM_017780.4(CHD7):c.2442+10A>G
NM_017780.4(CHD7):c.2442+11T>C
NM_017780.4(CHD7):c.2442+12del
NM_017780.4(CHD7):c.2442+16G>A
NM_017780.4(CHD7):c.2442+7G>A
NM_017780.4(CHD7):c.2443-11T>G rs2150723881
NM_017780.4(CHD7):c.2448A>G (p.Glu816=)
NM_017780.4(CHD7):c.2496C>T (p.Asn832=) rs1455553468
NM_017780.4(CHD7):c.2498+14G>C
NM_017780.4(CHD7):c.2498+15del
NM_017780.4(CHD7):c.2499-10G>T rs1351318078
NM_017780.4(CHD7):c.2499-17T>C
NM_017780.4(CHD7):c.2499-18A>G
NM_017780.4(CHD7):c.2499-19T>C
NM_017780.4(CHD7):c.2499-19del rs757104700
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
NM_017780.4(CHD7):c.2613+11C>T
NM_017780.4(CHD7):c.2613+19C>A
NM_017780.4(CHD7):c.2613+23del
NM_017780.4(CHD7):c.2613+8dup rs2150739145
NM_017780.4(CHD7):c.2613+9_2613+10dup
NM_017780.4(CHD7):c.2614-11dup
NM_017780.4(CHD7):c.2614-14T>C
NM_017780.4(CHD7):c.2614-9T>C rs2150745067
NM_017780.4(CHD7):c.2625G>A (p.Glu875=) rs2150745168
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly)
NM_017780.4(CHD7):c.2697+12T>C
NM_017780.4(CHD7):c.2697+7G>A
NM_017780.4(CHD7):c.2698-19T>G
NM_017780.4(CHD7):c.2698-9C>T
NM_017780.4(CHD7):c.2730A>G (p.Ser910=)
NM_017780.4(CHD7):c.2766G>A (p.Gln922=)
NM_017780.4(CHD7):c.2769C>T (p.Asp923=) rs1375498221
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu)
NM_017780.4(CHD7):c.2787C>A (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2787C>G (p.Ile929Met) rs771367272
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.279C>T (p.Thr93=) rs2150577775
NM_017780.4(CHD7):c.27T>G (p.Leu9=)
NM_017780.4(CHD7):c.2835+18G>A
NM_017780.4(CHD7):c.2836-10T>A
NM_017780.4(CHD7):c.2836-13A>G rs757536080
NM_017780.4(CHD7):c.2836-16A>C
NM_017780.4(CHD7):c.2836-16A>G
NM_017780.4(CHD7):c.2868G>A (p.Ser956=)
NM_017780.4(CHD7):c.2880G>A (p.Arg960=)
NM_017780.4(CHD7):c.2898C>T (p.Asn966=)
NM_017780.4(CHD7):c.2957+11C>G
NM_017780.4(CHD7):c.2957+15T>A
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His)
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
NM_017780.4(CHD7):c.3069C>G (p.Ala1023=)
NM_017780.4(CHD7):c.306C>T (p.His102=) rs368111535
NM_017780.4(CHD7):c.3072A>G (p.Pro1024=) rs2150750309
NM_017780.4(CHD7):c.3073T>C (p.Leu1025=)
NM_017780.4(CHD7):c.3078C>T (p.Ser1026=)
NM_017780.4(CHD7):c.309G>C (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr)
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) rs750203389
NM_017780.4(CHD7):c.318C>T (p.His106=) rs2150577900
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) rs771941657
NM_017780.4(CHD7):c.3198C>G (p.Pro1066=)
NM_017780.4(CHD7):c.3201+10C>T
NM_017780.4(CHD7):c.3201+16T>G
NM_017780.4(CHD7):c.3202-18T>C
NM_017780.4(CHD7):c.3202-6T>C
NM_017780.4(CHD7):c.320C>A (p.Thr107Asn)
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=) rs1804154884
NM_017780.4(CHD7):c.327C>G (p.Pro109=)
NM_017780.4(CHD7):c.327C>T (p.Pro109=)
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=)
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=) rs551443626
NM_017780.4(CHD7):c.3306A>G (p.Val1102=)
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=)
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=)
NM_017780.4(CHD7):c.3378+14T>C
NM_017780.4(CHD7):c.3379-12G>C
NM_017780.4(CHD7):c.3381A>G (p.Glu1127=) rs1015914018
NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)
NM_017780.4(CHD7):c.3394C>T (p.Leu1132=) rs769233218
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=) rs1427044855
NM_017780.4(CHD7):c.3483A>C (p.Thr1161=)
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)
NM_017780.4(CHD7):c.3504T>C (p.Asp1168=)
NM_017780.4(CHD7):c.351C>G (p.Gly117=)
NM_017780.4(CHD7):c.3522+11G>C rs1266763613
NM_017780.4(CHD7):c.3522+19T>C
NM_017780.4(CHD7):c.3522+20T>C
NM_017780.4(CHD7):c.3522+20T>G rs577146364
NM_017780.4(CHD7):c.3523-15A>G rs2150764543
NM_017780.4(CHD7):c.3561G>A (p.Leu1187=)
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=)
NM_017780.4(CHD7):c.3579T>C (p.Asp1193=)
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=)
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=) rs1563638250
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=)
NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp)
NM_017780.4(CHD7):c.36G>A (p.Glu12=)
NM_017780.4(CHD7):c.3705A>T (p.Gln1235His)
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=) rs2150764981
NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu)
NM_017780.4(CHD7):c.3778+11C>T
NM_017780.4(CHD7):c.3778+19C>T
NM_017780.4(CHD7):c.3778+20G>A
NM_017780.4(CHD7):c.3778+20G>C
NM_017780.4(CHD7):c.3778+8T>C
NM_017780.4(CHD7):c.3778+9G>T
NM_017780.4(CHD7):c.3779-13C>T
NM_017780.4(CHD7):c.3779-15G>A rs2150775393
NM_017780.4(CHD7):c.3779-18G>A rs2150775387
NM_017780.4(CHD7):c.3779-18G>C
NM_017780.4(CHD7):c.3779-19T>C
NM_017780.4(CHD7):c.3779-7T>G
NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp)
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr)
NM_017780.4(CHD7):c.3852A>T (p.Ala1284=)
NM_017780.4(CHD7):c.3858C>A (p.Ile1286=)
NM_017780.4(CHD7):c.3858C>T (p.Ile1286=)
NM_017780.4(CHD7):c.3867T>A (p.Ala1289=)
NM_017780.4(CHD7):c.3885T>A (p.Ile1295=)
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=) rs2150775740
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) rs371595829
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=)
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His)
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=)
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
NM_017780.4(CHD7):c.3989+11C>T rs2150775930
NM_017780.4(CHD7):c.3990-11A>T
NM_017780.4(CHD7):c.3990-8T>C
NM_017780.4(CHD7):c.3990-9G>A
NM_017780.4(CHD7):c.4020A>G (p.Val1340=)
NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser)
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe) rs1478092831
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=) rs2150777183
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=)
NM_017780.4(CHD7):c.411C>G (p.Ser137=) rs1317598292
NM_017780.4(CHD7):c.4125C>T (p.Leu1375=)
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) rs907362259
NM_017780.4(CHD7):c.417G>A (p.Val139=) rs2150578159
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) rs375867019
NM_017780.4(CHD7):c.4185+17G>A
NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn)
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=) rs2150778596
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=)
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=) rs2150778641
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=) rs2150778687
NM_017780.4(CHD7):c.42G>A (p.Gly14=) rs1215319146
NM_017780.4(CHD7):c.4317A>G (p.Leu1439=)
NM_017780.4(CHD7):c.4353+12C>G
NM_017780.4(CHD7):c.4354-12T>G
NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln)
NM_017780.4(CHD7):c.4395A>G (p.Arg1465=)
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=) rs1214452736
NM_017780.4(CHD7):c.440C>T (p.Pro147Leu)
NM_017780.4(CHD7):c.442A>C (p.Arg148=)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=)
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=)
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=)
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=)
NM_017780.4(CHD7):c.4533+10G>A
NM_017780.4(CHD7):c.4533+7A>C
NM_017780.4(CHD7):c.4534-11T>C rs2150785971
NM_017780.4(CHD7):c.4534-12T>C
NM_017780.4(CHD7):c.4534-20C>A rs727503866
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.4573T>C (p.Leu1525=)
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=)
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=) rs2150786158
NM_017780.4(CHD7):c.4641G>C (p.Gly1547=)
NM_017780.4(CHD7):c.4644+11A>C
NM_017780.4(CHD7):c.4644+14C>A
NM_017780.4(CHD7):c.4644+15C>A
NM_017780.4(CHD7):c.4644+16C>T
NM_017780.4(CHD7):c.4644+9_4644+10insTTG rs1363820681
NM_017780.4(CHD7):c.4645-15C>G rs949803813
NM_017780.4(CHD7):c.4645-16C>T rs1487936420
NM_017780.4(CHD7):c.4683G>A (p.Gln1561=)
NM_017780.4(CHD7):c.4686C>A (p.Thr1562=)
NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys)
NM_017780.4(CHD7):c.4707G>A (p.Lys1569=)
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe)
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=)
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)
NM_017780.4(CHD7):c.4800C>T (p.Gly1600=)
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=)
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) rs1164615393
NM_017780.4(CHD7):c.4850+11C>T
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG rs2150787035
NM_017780.4(CHD7):c.4850+9G>T rs2150787043
NM_017780.4(CHD7):c.4851-18T>C
NM_017780.4(CHD7):c.4851-4G>T
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4857A>G (p.Gly1619=)
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=)
NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr)
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu)
NM_017780.4(CHD7):c.4917A>G (p.Val1639=)
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=)
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=)
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln)
NM_017780.4(CHD7):c.5043C>T (p.Asn1681=)
NM_017780.4(CHD7):c.5050+13C>T
NM_017780.4(CHD7):c.5050+17C>G rs907564726
NM_017780.4(CHD7):c.5050+17C>T
NM_017780.4(CHD7):c.5050+19G>A rs1371167281
NM_017780.4(CHD7):c.5050+7C>T rs2150793457
NM_017780.4(CHD7):c.5050+9C>G
NM_017780.4(CHD7):c.5051-17T>A
NM_017780.4(CHD7):c.5051-20T>A rs1394727727
NM_017780.4(CHD7):c.5051-4C>G rs71640288
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=) rs1586432209
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu) rs777744183
NM_017780.4(CHD7):c.515C>T (p.Pro172Leu)
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=)
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.518C>T (p.Ala173Val)
NM_017780.4(CHD7):c.5202C>T (p.His1734=) rs1805162254
NM_017780.4(CHD7):c.5210+12G>C
NM_017780.4(CHD7):c.5210+14G>C rs570609542
NM_017780.4(CHD7):c.5210+16G>A
NM_017780.4(CHD7):c.5210+9T>G rs753589296
NM_017780.4(CHD7):c.5211-14G>A
NM_017780.4(CHD7):c.5211-16_5211-15del rs771116507
NM_017780.4(CHD7):c.5211-17T>A
NM_017780.4(CHD7):c.5211-18C>A
NM_017780.4(CHD7):c.5211-18C>G rs749368541
NM_017780.4(CHD7):c.5211-18C>T rs749368541
NM_017780.4(CHD7):c.5211-19C>G
NM_017780.4(CHD7):c.5211-3del rs1586437092
NM_017780.4(CHD7):c.5215C>T (p.Leu1739=)
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)
NM_017780.4(CHD7):c.5256G>A (p.Val1752=) rs1300830933
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)
NM_017780.4(CHD7):c.5300+11G>A
NM_017780.4(CHD7):c.5300+12C>T
NM_017780.4(CHD7):c.5300+8C>A
NM_017780.4(CHD7):c.5300+9G>A
NM_017780.4(CHD7):c.5301-10T>G
NM_017780.4(CHD7):c.5301-17T>C rs768143056
NM_017780.4(CHD7):c.531C>T (p.Pro177=)
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=)
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=) rs2150801685
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=) rs559748498
NM_017780.4(CHD7):c.5404+14C>T rs2150801886
NM_017780.4(CHD7):c.5405-6G>A
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=)
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser)
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
NM_017780.4(CHD7):c.54T>C (p.Ser18=) rs2150577330
NM_017780.4(CHD7):c.5512A>G (p.Met1838Val)
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=) rs2150804893
NM_017780.4(CHD7):c.5534+19A>C
NM_017780.4(CHD7):c.5535-19T>C
NM_017780.4(CHD7):c.5535-20T>C rs1394659038
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=)
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=)
NM_017780.4(CHD7):c.557T>C (p.Met186Thr)
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=)
NM_017780.4(CHD7):c.5607+13G>A
NM_017780.4(CHD7):c.5607+14T>C
NM_017780.4(CHD7):c.5607+7A>G rs1805434580
NM_017780.4(CHD7):c.5608-13C>G
NM_017780.4(CHD7):c.5608-20T>A
NM_017780.4(CHD7):c.5608-7T>G
NM_017780.4(CHD7):c.5625T>G (p.Pro1875=)
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val)
NM_017780.4(CHD7):c.5665+13A>G rs2150806324
NM_017780.4(CHD7):c.5665+18C>G
NM_017780.4(CHD7):c.5665+7T>C
NM_017780.4(CHD7):c.5666-16T>G
NM_017780.4(CHD7):c.5666-18G>A
NM_017780.4(CHD7):c.5666-19T>C rs1805474762
NM_017780.4(CHD7):c.5666-5C>T
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=) rs2150807633
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=) rs2150807756
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=)
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp) rs773867024
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=) rs757160222
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly) rs757160222
NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)
NM_017780.4(CHD7):c.588G>C (p.Gly196=)
NM_017780.4(CHD7):c.5894+15G>T
NM_017780.4(CHD7):c.5895-18A>G
NM_017780.4(CHD7):c.5895-18_5895-17insGA rs1805499097
NM_017780.4(CHD7):c.5895-5A>T rs1805499680
NM_017780.4(CHD7):c.591T>C (p.Asp197=)
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=) rs2150808715
NM_017780.4(CHD7):c.5931G>A (p.Val1977=)
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=)
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.5988A>G (p.Gln1996=) rs2150808862
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=)
NM_017780.4(CHD7):c.6090C>A (p.Val2030=) rs2150809096
NM_017780.4(CHD7):c.6103+19A>G
NM_017780.4(CHD7):c.6104-12del
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=)
NM_017780.4(CHD7):c.6138C>T (p.Ile2046=) rs2150809518
NM_017780.4(CHD7):c.6147G>A (p.Glu2049=) rs2150809533
NM_017780.4(CHD7):c.6153C>T (p.Ala2051=) rs759326626
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=) rs1805526666
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)
NM_017780.4(CHD7):c.6282A>T (p.Gly2094=)
NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp)
NM_017780.4(CHD7):c.6285G>T (p.Arg2095=)
NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr)
NM_017780.4(CHD7):c.6327C>T (p.Val2109=) rs2150810128
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln)
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=)
NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr)
NM_017780.4(CHD7):c.6381A>G (p.Ala2127=)
NM_017780.4(CHD7):c.6383A>G (p.His2128Arg)
NM_017780.4(CHD7):c.6393T>C (p.Phe2131=) rs2150810295
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=)
NM_017780.4(CHD7):c.6435A>G (p.Pro2145=) rs1402557358
NM_017780.4(CHD7):c.6436C>T (p.Leu2146=) rs2150810421
NM_017780.4(CHD7):c.6468C>G (p.Val2156=)
NM_017780.4(CHD7):c.651A>G (p.Gln217=)
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=)
NM_017780.4(CHD7):c.6588C>T (p.Thr2196=)
NM_017780.4(CHD7):c.6594C>T (p.Gly2198=)
NM_017780.4(CHD7):c.6597C>T (p.Ser2199=)
NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp)
NM_017780.4(CHD7):c.6600G>A (p.Gly2200=) rs2150811019
NM_017780.4(CHD7):c.6603G>A (p.Lys2201=) rs1586446721
NM_017780.4(CHD7):c.660C>T (p.Leu220=) rs1177262261
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=)
NM_017780.4(CHD7):c.6690A>G (p.Lys2230=)
NM_017780.4(CHD7):c.6693T>C (p.Ser2231=)
NM_017780.4(CHD7):c.669A>G (p.Gly223=)
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.6775+19C>T
NM_017780.4(CHD7):c.6776-12C>T
NM_017780.4(CHD7):c.6776-13A>G rs2150813272
NM_017780.4(CHD7):c.6776-15T>G
NM_017780.4(CHD7):c.6776-5C>A
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=)
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser) rs745361070
NM_017780.4(CHD7):c.6826A>G (p.Met2276Val)
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=) rs2150813513
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) rs767696409
NM_017780.4(CHD7):c.690A>G (p.Ser230=) rs926628835
NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu)
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6933T>C (p.Pro2311=)
NM_017780.4(CHD7):c.6936+7A>T
NM_017780.4(CHD7):c.6936+9G>A
NM_017780.4(CHD7):c.6937-13C>T
NM_017780.4(CHD7):c.6937-19A>G
NM_017780.4(CHD7):c.6981G>A (p.Val2327=)
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)
NM_017780.4(CHD7):c.699C>T (p.Gly233=) rs2150578946
NM_017780.4(CHD7):c.6A>G (p.Ala2=) rs1331575367
NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu)
NM_017780.4(CHD7):c.7006A>C (p.Arg2336=)
NM_017780.4(CHD7):c.7038C>T (p.Ile2346=) rs2129642777
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7062G>A (p.Val2354=)
NM_017780.4(CHD7):c.7083G>A (p.Arg2361=) rs1325869967
NM_017780.4(CHD7):c.708C>T (p.Ser236=) rs2150578971
NM_017780.4(CHD7):c.7092T>C (p.Ala2364=) rs2129643396
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=)
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
NM_017780.4(CHD7):c.712G>C (p.Val238Leu)
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=)
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=) rs867921812
NM_017780.4(CHD7):c.7164+14G>C
NM_017780.4(CHD7):c.7164+16T>C
NM_017780.4(CHD7):c.7165-16T>C
NM_017780.4(CHD7):c.7165-18G>A
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser)
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=) rs545381857
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=)
NM_017780.4(CHD7):c.723G>C (p.Gln241His)
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=)
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val) rs1293236067
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) rs766091347
NM_017780.4(CHD7):c.72C>G (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.72C>T (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.7320A>G (p.Lys2440=)
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=)
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7455C>T (p.Leu2485=)
NM_017780.4(CHD7):c.7458A>G (p.Gln2486=) rs2129651419
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp) rs371595770
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=)
NM_017780.4(CHD7):c.7470G>C (p.Ser2490=) rs780608336
NM_017780.4(CHD7):c.7488T>C (p.His2496=) rs995534410
NM_017780.4(CHD7):c.7491C>G (p.Leu2497=)
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=) rs1026956983
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=) rs1563665717
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=)
NM_017780.4(CHD7):c.756G>T (p.Ser252=)
NM_017780.4(CHD7):c.7586A>G (p.His2529Arg)
NM_017780.4(CHD7):c.7608+7dup
NM_017780.4(CHD7):c.7608+9G>T rs2129654194
NM_017780.4(CHD7):c.7609-12A>C
NM_017780.4(CHD7):c.7609-18A>G
NM_017780.4(CHD7):c.7609-7T>C rs745569961
NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn)
NM_017780.4(CHD7):c.7620G>A (p.Glu2540=) rs2129702757
NM_017780.4(CHD7):c.762G>A (p.Gln254=) rs2150579148
NM_017780.4(CHD7):c.7650G>A (p.Glu2550=) rs1173503101
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=)
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln)
NM_017780.4(CHD7):c.7713T>C (p.Val2571=)
NM_017780.4(CHD7):c.7743G>A (p.Val2581=)
NM_017780.4(CHD7):c.7743G>C (p.Val2581=)
NM_017780.4(CHD7):c.7767G>A (p.Lys2589=) rs2129705530
NM_017780.4(CHD7):c.780C>T (p.Pro260=) rs2150579200
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=)
NM_017780.4(CHD7):c.7830+20G>A
NM_017780.4(CHD7):c.7830+8T>C
NM_017780.4(CHD7):c.7831-12T>C
NM_017780.4(CHD7):c.7831-14T>C
NM_017780.4(CHD7):c.7831-17T>C rs777041721
NM_017780.4(CHD7):c.7831-20A>G
NM_017780.4(CHD7):c.7831-5T>C rs770131922
NM_017780.4(CHD7):c.7869G>A (p.Pro2623=) rs1338609969
NM_017780.4(CHD7):c.786T>C (p.Thr262=)
NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln)
NM_017780.4(CHD7):c.789T>A (p.Ala263=)
NM_017780.4(CHD7):c.789T>C (p.Ala263=)
NM_017780.4(CHD7):c.7914A>C (p.Ile2638=)
NM_017780.4(CHD7):c.7971+11G>A rs2129722219
NM_017780.4(CHD7):c.7971+15A>G
NM_017780.4(CHD7):c.7971+17G>T
NM_017780.4(CHD7):c.7971+8C>T rs1295446479
NM_017780.4(CHD7):c.7972-8C>T
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val)
NM_017780.4(CHD7):c.800A>G (p.Glu267Gly)
NM_017780.4(CHD7):c.8076+14G>A rs1251720838
NM_017780.4(CHD7):c.8076+14G>T
NM_017780.4(CHD7):c.8076+16A>G rs1236099189
NM_017780.4(CHD7):c.8077-10T>C
NM_017780.4(CHD7):c.8077-12C>T
NM_017780.4(CHD7):c.8077-17C>T
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=) rs952299853
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=)
NM_017780.4(CHD7):c.8149A>C (p.Arg2717=) rs2129757721
NM_017780.4(CHD7):c.8178C>T (p.Ala2726=) rs2129758283
NM_017780.4(CHD7):c.8181A>G (p.Arg2727=)
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=)
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) rs878855033
NM_017780.4(CHD7):c.81T>C (p.Cys27=)
NM_017780.4(CHD7):c.8202T>C (p.Ala2734=)
NM_017780.4(CHD7):c.8208C>T (p.Ala2736=) rs1346132011
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=)
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=) rs903775787
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=)
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu) rs1286287151
NM_017780.4(CHD7):c.8292C>G (p.Leu2764=) rs1196717284
NM_017780.4(CHD7):c.8307G>A (p.Leu2769=)
NM_017780.4(CHD7):c.8317A>G (p.Met2773Val)
NM_017780.4(CHD7):c.831G>A (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.831G>C (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.831G>T (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=)
NM_017780.4(CHD7):c.8383G>A (p.Val2795Met)
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=)
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=)
NM_017780.4(CHD7):c.8439C>G (p.Gly2813=)
NM_017780.4(CHD7):c.8442G>A (p.Gly2814=)
NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys)
NM_017780.4(CHD7):c.8454C>T (p.Asn2818=)
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=) rs1249032872
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn)
NM_017780.4(CHD7):c.8553A>G (p.Glu2851=) rs2129765778
NM_017780.4(CHD7):c.8574G>A (p.Glu2858=) rs1806203830
NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu)
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=)
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
NM_017780.4(CHD7):c.8640G>T (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8646A>T (p.Gly2882=) rs1586468596
NM_017780.4(CHD7):c.8662C>T (p.Leu2888=) rs1017895981
NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)
NM_017780.4(CHD7):c.867C>A (p.Thr289=)
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile) rs2129768305
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=) rs746128427
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=)
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val)
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=) rs1465616826
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=)
NM_017780.4(CHD7):c.8805A>G (p.Glu2935=) rs1563674855
NM_017780.4(CHD7):c.8823G>A (p.Lys2941=)
NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn)
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=)
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=)
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=)
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=)
NM_017780.4(CHD7):c.897C>T (p.Val299=)
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala)
NM_017780.4(CHD7):c.924G>T (p.Gly308=)
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys)
NM_017780.4(CHD7):c.951C>T (p.Asn317=) rs770785044
NM_017780.4(CHD7):c.996A>G (p.Leu332=)

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