ClinVar Miner

List of variants reported as likely benign for CHARGE association

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1203
Download table as spreadsheet
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_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
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.1737G>A (p.Gln579=) rs747922099 0.00024
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_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
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_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287 0.00014
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
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_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
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_012431.3(SEMA3E):c.615C>T (p.Ser205=) rs758229846 0.00008
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_012431.3(SEMA3E):c.671-10G>A rs372840645 0.00007
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_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) rs111300014 0.00006
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
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_012431.3(SEMA3E):c.814-11G>T rs781715218 0.00005
NM_012431.3(SEMA3E):c.998+10T>C rs769133097 0.00005
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874 0.00005
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_012431.3(SEMA3E):c.1173C>T (p.Tyr391=) rs370540865 0.00004
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=) rs776317078 0.00004
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) rs756346342 0.00004
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760 0.00004
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665 0.00004
NM_012431.3(SEMA3E):c.814-10G>T rs1053672541 0.00004
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.1920A>G (p.Glu640=) rs749214938 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_012431.3(SEMA3E):c.1667+7C>T rs757094477 0.00003
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) rs199840463 0.00003
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) rs753767962 0.00003
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=) rs564120268 0.00003
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.1968G>A (p.Pro656=) rs569213080 0.00003
NM_017780.4(CHD7):c.2096+11G>A rs895506618 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_012431.3(SEMA3E):c.1320A>G (p.Arg440=) rs750937375 0.00002
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) rs139043841 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=) rs375209449 0.00002
NM_012431.3(SEMA3E):c.671-19C>A rs375797663 0.00002
NM_012431.3(SEMA3E):c.798C>T (p.Val266=) rs1475070881 0.00002
NM_012431.3(SEMA3E):c.929-10A>G rs1032615953 0.00002
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_012431.3(SEMA3E):c.1053A>G (p.Ala351=) rs1208777030 0.00001
NM_012431.3(SEMA3E):c.116-15C>T rs745461858 0.00001
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) rs1435041618 0.00001
NM_012431.3(SEMA3E):c.1367-4A>G rs927631455 0.00001
NM_012431.3(SEMA3E):c.1876-11T>C rs542379432 0.00001
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849 0.00001
NM_012431.3(SEMA3E):c.1977T>C (p.His659=) rs1451860370 0.00001
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=) rs753319647 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=) rs1790350122 0.00001
NM_012431.3(SEMA3E):c.276+19G>C rs186974190 0.00001
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=) rs758897440 0.00001
NM_012431.3(SEMA3E):c.551-17C>T rs771573182 0.00001
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=) rs756263299 0.00001
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) rs200688368 0.00001
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=) rs773812106 0.00001
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=) rs1457393978 0.00001
NM_012431.3(SEMA3E):c.670+12G>A rs1383072223 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) rs769859383 0.00001
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012431.3(SEMA3E):c.999-9A>G rs776954864 0.00001
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.1696C>G (p.Pro566Ala) rs764518030 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.1881A>G (p.Gln627=) rs751273179 0.00001
NM_017780.4(CHD7):c.1890T>C (p.Asn630=) rs754640263 0.00001
NM_017780.4(CHD7):c.1914A>G (p.Gln638=) rs777624090 0.00001
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034 0.00001
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg) rs1373820202 0.00001
NM_017780.4(CHD7):c.2013G>A (p.Pro671=) rs1361271759 0.00001
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363 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_012431.3(SEMA3E):c.1009C>A (p.Arg337=) rs965528935
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) rs2115627595
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
NM_012431.3(SEMA3E):c.1143+15A>G
NM_012431.3(SEMA3E):c.1143+17A>G
NM_012431.3(SEMA3E):c.1144-12C>T
NM_012431.3(SEMA3E):c.1144-13A>G
NM_012431.3(SEMA3E):c.1144-15C>A
NM_012431.3(SEMA3E):c.1144-19_1144-15del rs755190119
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
NM_012431.3(SEMA3E):c.116-16T>A rs771714740
NM_012431.3(SEMA3E):c.116-7A>T rs2115977179
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=) rs2115977130
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=) rs2115616642
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
NM_012431.3(SEMA3E):c.1366+11G>T
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
NM_012431.3(SEMA3E):c.1367-20C>T
NM_012431.3(SEMA3E):c.1367-7C>T rs2115601484
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=) rs139043841
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
NM_012431.3(SEMA3E):c.1458+11C>T
NM_012431.3(SEMA3E):c.1458+19A>G rs2115600702
NM_012431.3(SEMA3E):c.1459-11del
NM_012431.3(SEMA3E):c.1459-12_1459-11del rs1788078377
NM_012431.3(SEMA3E):c.1459-17del rs2115589623
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
NM_012431.3(SEMA3E):c.1500+16G>A
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) rs1788042634
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
NM_012431.3(SEMA3E):c.1667+8G>A
NM_012431.3(SEMA3E):c.1667+8G>T
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.1668-18G>T rs771755120
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) rs1584209229
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=) rs2116918980
NM_012431.3(SEMA3E):c.1735+17C>T
NM_012431.3(SEMA3E):c.1736-13G>T rs1296337014
NM_012431.3(SEMA3E):c.1736-9C>T
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
NM_012431.3(SEMA3E):c.1875+15C>A rs1325542892
NM_012431.3(SEMA3E):c.1875+17T>G
NM_012431.3(SEMA3E):c.1875+19T>C
NM_012431.3(SEMA3E):c.1875+20T>G
NM_012431.3(SEMA3E):c.1876-14T>A rs891019060
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1876-5T>C rs1794699166
NM_012431.3(SEMA3E):c.1876-8T>C
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) rs1794698394
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) rs757700378
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=) rs2116891596
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) rs1199344717
NM_012431.3(SEMA3E):c.276+10T>C
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
NM_012431.3(SEMA3E):c.336+14A>G
NM_012431.3(SEMA3E):c.336+15T>C
NM_012431.3(SEMA3E):c.337-18C>G
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
NM_012431.3(SEMA3E):c.456+11T>A
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) rs944160895
NM_012431.3(SEMA3E):c.550+14C>T
NM_012431.3(SEMA3E):c.550+17C>T
NM_012431.3(SEMA3E):c.551-11C>T
NM_012431.3(SEMA3E):c.551-14A>G
NM_012431.3(SEMA3E):c.551-14A>T
NM_012431.3(SEMA3E):c.551-18A>G rs774812464
NM_012431.3(SEMA3E):c.551-4G>A rs1788369989
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) rs1788369340
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) rs2115654801
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
NM_012431.3(SEMA3E):c.670+11G>A
NM_012431.3(SEMA3E):c.670+20T>C
NM_012431.3(SEMA3E):c.670+8T>A
NM_012431.3(SEMA3E):c.671-16T>C
NM_012431.3(SEMA3E):c.671-19C>T rs375797663
NM_012431.3(SEMA3E):c.671-7C>T rs1255502131
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) rs2115649282
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
NM_012431.3(SEMA3E):c.780C>T (p.His260=) rs533306215
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=) rs1467250504
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
NM_012431.3(SEMA3E):c.813+10TC[3]
NM_012431.3(SEMA3E):c.813+20_813+22del
NM_012431.3(SEMA3E):c.814-18C>G rs1027659475
NM_012431.3(SEMA3E):c.814-20C>T
NM_012431.3(SEMA3E):c.814-9T>C rs1562767558
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) rs1584226009
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=) rs2115643169
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
NM_012431.3(SEMA3E):c.928+10T>C
NM_012431.3(SEMA3E):c.928+12T>G
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) rs2115641011
NM_012431.3(SEMA3E):c.998+15C>T
NM_012431.3(SEMA3E):c.998+9T>G
NM_012431.3(SEMA3E):c.999-19T>C rs2115628543
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)
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.1666-16T>C
NM_017780.4(CHD7):c.1666-20T>C
NM_017780.4(CHD7):c.1666-5C>A
NM_017780.4(CHD7):c.1671C>T (p.Ser557=)
NM_017780.4(CHD7):c.1674G>A (p.Pro558=)
NM_017780.4(CHD7):c.1674G>C (p.Pro558=)
NM_017780.4(CHD7):c.1674G>T (p.Pro558=) rs763024481
NM_017780.4(CHD7):c.1698A>G (p.Pro566=) rs727503862
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
NM_017780.4(CHD7):c.1725A>G (p.Gly575=) rs2150669175
NM_017780.4(CHD7):c.1728G>A (p.Pro576=) rs754836392
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
NM_017780.4(CHD7):c.1759C>T (p.Leu587=)
NM_017780.4(CHD7):c.1761G>T (p.Leu587=)
NM_017780.4(CHD7):c.1785A>G (p.Gln595=)
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1812C>T (p.Asn604=)
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)
NM_017780.4(CHD7):c.1862C>A (p.Pro621His) rs1229088933
NM_017780.4(CHD7):c.1947A>C (p.Ala649=)
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu)
NM_017780.4(CHD7):c.1971A>G (p.Lys657=)
NM_017780.4(CHD7):c.1980G>A (p.Lys660=) rs2150669967
NM_017780.4(CHD7):c.2004C>T (p.Pro668=)
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
NM_017780.4(CHD7):c.2022T>C (p.Pro674=)
NM_017780.4(CHD7):c.2037G>A (p.Glu679=)
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2076C>T (p.Pro692=)
NM_017780.4(CHD7):c.2096+23_2096+25del rs1811226936
NM_017780.4(CHD7):c.2096+8G>A
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.