ClinVar Miner

List of variants reported as likely benign for CHARGE syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1439
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000008.11:g.60868037T>A rs16926520 0.10876
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01909
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00543
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00445
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00377
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00275
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00259
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00166
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00162
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00150
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00098
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00066
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00063
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
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 0.00035
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00033
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047 0.00030
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.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00028
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.996A>G (p.Leu332=) rs1217492333 0.00023
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00022
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00019
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00019
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_012431.3(SEMA3E):c.726C>T (p.Asn242=) rs140291139 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_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00014
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00014
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 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.1203A>G (p.Ala401=) rs147960212 0.00012
NM_017780.4(CHD7):c.1245G>A (p.Pro415=) rs745900311 0.00012
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00012
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 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.2273G>A (p.Arg758His) rs202208393 0.00011
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177 0.00011
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455 0.00011
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930 0.00011
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00010
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 0.00010
NM_017780.4(CHD7):c.4146C>T (p.Ile1382=) rs372318215 0.00010
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00010
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220 0.00009
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=) rs760166848 0.00009
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 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.7485G>T (p.Arg2495Ser) rs547209998 0.00009
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565 0.00009
NM_012431.3(SEMA3E):c.551-14A>G rs373998559 0.00008
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=) rs758229846 0.00008
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 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.3778+17C>T rs111863846 0.00008
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523 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_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.3765G>A (p.Pro1255=) rs371633293 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.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met) rs370271088 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.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.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.4850+6T>A rs745527754 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.7863G>A (p.Gln2621=) rs749381782 0.00006
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) rs767067759 0.00006
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472 0.00006
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=) rs367621110 0.00005
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031 0.00005
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.1410A>G (p.Glu470=) rs368648424 0.00005
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938 0.00005
NM_017780.4(CHD7):c.1947A>C (p.Ala649=) rs944109090 0.00005
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu) rs1276509961 0.00005
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874 0.00005
NM_017780.4(CHD7):c.2238+12A>G rs752854030 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 0.00005
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00005
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) rs767390470 0.00005
NM_017780.4(CHD7):c.381T>C (p.Pro127=) rs373676882 0.00005
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00005
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00005
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00005
NM_017780.4(CHD7):c.4644+17A>G rs376953317 0.00005
NM_017780.4(CHD7):c.4850+13C>T rs1311582288 0.00005
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00005
NM_017780.4(CHD7):c.4920A>G (p.Glu1640=) rs757952334 0.00005
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00005
NM_017780.4(CHD7):c.5301-13T>C rs368716487 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_017780.4(CHD7):c.6776-5C>A rs769046607 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.7589A>G (p.Lys2530Arg) rs777303307 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.1381C>T (p.Leu461=) rs980366137 0.00004
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=) rs201160682 0.00004
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760 0.00004
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=) rs754284987 0.00004
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665 0.00004
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=) rs112772585 0.00004
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=) rs201425495 0.00004
NM_012431.3(SEMA3E):c.814-10G>T rs1053672541 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.294C>T (p.Leu98=) rs372513999 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln) rs373095697 0.00004
NM_017780.4(CHD7):c.4533+9C>T rs1047944999 0.00004
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu) rs1201043974 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.5405-18C>T rs199981784 0.00004
NM_017780.4(CHD7):c.5405-8C>T rs755505152 0.00004
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) rs376806146 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.6293G>A (p.Arg2098Gln) rs375199214 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.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.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.8644G>A (p.Gly2882Arg) rs912988587 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.1062C>T (p.Asn354=) rs201719889 0.00003
NM_012431.3(SEMA3E):c.1143+17A>G rs772625288 0.00003
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=) rs529826573 0.00003
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=) rs375802700 0.00003
NM_012431.3(SEMA3E):c.1667+7C>T rs757094477 0.00003
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=) rs762483567 0.00003
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) rs199840463 0.00003
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=) rs760431278 0.00003
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=) rs534303369 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_012431.3(SEMA3E):c.551-11C>T rs376538800 0.00003
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181 0.00003
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00003
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694 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.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.2189C>T (p.Thr730Ile) rs552946889 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.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440 0.00003
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018 0.00003
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr) rs1020281061 0.00003
NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe) rs535533268 0.00003
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) rs200565677 0.00003
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His) rs1236755820 0.00003
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721 0.00003
NM_017780.4(CHD7):c.4534-19G>A rs1386563597 0.00003
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys) rs745837768 0.00003
NM_017780.4(CHD7):c.5016G>A (p.Ala1672=) rs370321135 0.00003
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) rs777652245 0.00003
NM_017780.4(CHD7):c.5210+16G>T rs747154720 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.5409T>C (p.Tyr1803=) rs1021645395 0.00003
NM_017780.4(CHD7):c.5535-4A>G rs777671269 0.00003
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) rs764844969 0.00003
NM_017780.4(CHD7):c.5665+11A>G rs765928233 0.00003
NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp) rs760116437 0.00003
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu) rs373241264 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 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.6826A>G (p.Met2276Val) rs746576881 0.00003
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=) rs759644789 0.00003
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659 0.00003
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=) rs572098274 0.00003
NM_017780.4(CHD7):c.7107C>T (p.Val2369=) rs773674773 0.00003
NM_017780.4(CHD7):c.711C>T (p.His237=) rs1188337353 0.00003
NM_017780.4(CHD7):c.7248G>A (p.Lys2416=) rs768074891 0.00003
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 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.800A>G (p.Glu267Gly) rs746735047 0.00003
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446 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.884G>A (p.Arg295Gln) rs569799707 0.00003
NM_012431.3(SEMA3E):c.116-15C>T rs745461858 0.00002
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) rs139043841 0.00002
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=) rs371092782 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.336+15T>C rs1165624193 0.00002
NM_012431.3(SEMA3E):c.550+14C>T rs369051894 0.00002
NM_012431.3(SEMA3E):c.670+11G>A rs1360305960 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.84T>C (p.Thr28=) rs983639243 0.00002
NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser) rs182061582 0.00002
NM_017780.4(CHD7):c.1451G>T (p.Gly484Val) rs1446745630 0.00002
NM_017780.4(CHD7):c.208G>C (p.Asp70His) rs759847780 0.00002
NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn) rs753687437 0.00002
NM_017780.4(CHD7):c.2260G>C (p.Val754Leu) rs1340154642 0.00002
NM_017780.4(CHD7):c.2443-4dup rs1207292215 0.00002
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849 0.00002
NM_017780.4(CHD7):c.2523A>G (p.Ala841=) rs970128606 0.00002
NM_017780.4(CHD7):c.2697+12T>C rs375096665 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.2958-16C>A rs772885661 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.3858C>T (p.Ile1286=) rs1804733471 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.4354-12T>G rs758410916 0.00002
NM_017780.4(CHD7):c.4359A>G (p.Gln1453=) rs749531765 0.00002
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=) rs1278636503 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.4850+19G>A rs746769941 0.00002
NM_017780.4(CHD7):c.516G>A (p.Pro172=) rs377332156 0.00002
NM_017780.4(CHD7):c.5214C>T (p.Val1738=) rs756430456 0.00002
NM_017780.4(CHD7):c.5404+9C>T rs755413885 0.00002
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=) rs558567843 0.00002
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser) rs570691119 0.00002
NM_017780.4(CHD7):c.5608-20T>A rs1375346888 0.00002
NM_017780.4(CHD7):c.561G>A (p.Gln187=) rs181083503 0.00002
NM_017780.4(CHD7):c.5666-16T>G rs1805475068 0.00002
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=) rs1805480205 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.591T>C (p.Asp197=) rs370746341 0.00002
NM_017780.4(CHD7):c.6087C>T (p.Pro2029=) rs550461070 0.00002
NM_017780.4(CHD7):c.6103+19A>G rs566990784 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017780.4(CHD7):c.6597C>T (p.Ser2199=) rs780606140 0.00002
NM_017780.4(CHD7):c.6936+9G>A rs188197056 0.00002
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu) rs373370399 0.00002
NM_017780.4(CHD7):c.705G>A (p.Leu235=) rs918029767 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.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln) rs1327851196 0.00002
NM_017780.4(CHD7):c.7971+8C>T rs1295446479 0.00002
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr) rs757707495 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.8823G>A (p.Lys2941=) rs752869276 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.1144-7T>C rs1370491845 0.00001
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) rs1435041618 0.00001
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=) rs750937375 0.00001
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=) rs745653615 0.00001
NM_012431.3(SEMA3E):c.1367-20C>T rs1788131091 0.00001
NM_012431.3(SEMA3E):c.1367-4A>G rs927631455 0.00001
NM_012431.3(SEMA3E):c.1667+8G>A rs764096552 0.00001
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) rs756346342 0.00001
NM_012431.3(SEMA3E):c.1875+19T>C rs373351427 0.00001
NM_012431.3(SEMA3E):c.1876-11T>C rs542379432 0.00001
NM_012431.3(SEMA3E):c.1876-8T>C rs939171816 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.2187C>T (p.Cys729=) rs755671622 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=) rs547303531 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.550+17C>T rs755739572 0.00001
NM_012431.3(SEMA3E):c.551-17C>T rs771573182 0.00001
NM_012431.3(SEMA3E):c.551-4G>A rs1788369989 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.670+20T>C rs746490516 0.00001
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=) rs1399787086 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.891A>G (p.Pro297=) rs1354808997 0.00001
NM_012431.3(SEMA3E):c.928+10T>C rs776446135 0.00001
NM_012431.3(SEMA3E):c.929-10A>G rs1032615953 0.00001
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) rs2115641011 0.00001
NM_012431.3(SEMA3E):c.998+15C>T rs780726825 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_017780.4(CHD7):c.102A>G (p.Val34=) rs1170310957 0.00001
NM_017780.4(CHD7):c.1085T>C (p.Met362Thr) rs748181926 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.1260A>G (p.Ile420Met) rs1332728138 0.00001
NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp) rs771200821 0.00001
NM_017780.4(CHD7):c.1310A>G (p.His437Arg) rs746261185 0.00001
NM_017780.4(CHD7):c.1349T>C (p.Met450Thr) rs762891322 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.1417G>A (p.Gly473Arg) rs747717847 0.00001
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) rs1313748646 0.00001
NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg) rs1301038949 0.00001
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp) rs547298242 0.00001
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) rs1465792260 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.1556C>T (p.Pro519Leu) rs1333490432 0.00001
NM_017780.4(CHD7):c.155C>G (p.Pro52Arg) rs377710972 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+14G>C rs576207260 0.00001
NM_017780.4(CHD7):c.1665+17C>T rs760402351 0.00001
NM_017780.4(CHD7):c.1665+20A>C rs768584918 0.00001
NM_017780.4(CHD7):c.1666-16T>C rs1490631269 0.00001
NM_017780.4(CHD7):c.1674G>C (p.Pro558=) rs763024481 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.1698A>G (p.Pro566=) rs727503862 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908 0.00001
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn) rs201456469 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.1968G>A (p.Pro656=) rs569213080 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.2097-14A>G rs1164707966 0.00001
NM_017780.4(CHD7):c.2107C>A (p.Pro703Thr) rs1278614167 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.2218G>A (p.Asp740Asn) rs776372236 0.00001
NM_017780.4(CHD7):c.2265G>A (p.Lys755=) rs541863937 0.00001
NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg) rs1231314681 0.00001
NM_017780.4(CHD7):c.2376+8C>T rs1331200503 0.00001
NM_017780.4(CHD7):c.2377-13C>A rs747682287 0.00001
NM_017780.4(CHD7):c.2377-16A>G rs781749924 0.00001
NM_017780.4(CHD7):c.2377-17C>T rs1586352662 0.00001
NM_017780.4(CHD7):c.2442+16G>A rs1184142614 0.00001
NM_017780.4(CHD7):c.2442+17C>T rs766555433 0.00001
NM_017780.4(CHD7):c.2442+7G>A rs1812317203 0.00001
NM_017780.4(CHD7):c.2499-19T>C rs746748094 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.2614-14T>C rs749940500 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.2836-5A>G rs779518202 0.00001
NM_017780.4(CHD7):c.2839C>A (p.Arg947=) rs200220845 0.00001
NM_017780.4(CHD7):c.2922G>A (p.Glu974=) rs1278202176 0.00001
NM_017780.4(CHD7):c.2957+11C>G rs1804072755 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.3161G>A (p.Arg1054Gln) rs750203389 0.00001
NM_017780.4(CHD7):c.3201+10C>T rs372432381 0.00001
NM_017780.4(CHD7):c.3202-6T>C rs1344998080 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.320C>A (p.Thr107Asn) rs1057234037 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307 0.00001
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=) rs551443626 0.00001
NM_017780.4(CHD7):c.3324C>T (p.His1108=) rs189618218 0.00001
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=) rs1804157840 0.00001
NM_017780.4(CHD7):c.3378+14T>C rs948706436 0.00001
NM_017780.4(CHD7):c.3378+16G>A rs771299507 0.00001
NM_017780.4(CHD7):c.3379-5C>G rs1330900330 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.3504T>C (p.Asp1168=) rs1804368811 0.00001
NM_017780.4(CHD7):c.3522+11G>C rs1266763613 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.3579T>C (p.Asp1193=) rs569255805 0.00001
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=) rs748869169 0.00001
NM_017780.4(CHD7):c.3705A>T (p.Gln1235His) rs1452304330 0.00001
NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu) rs888843580 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.3778+19C>T rs771407286 0.00001
NM_017780.4(CHD7):c.3778+20G>A rs778930641 0.00001
NM_017780.4(CHD7):c.3779-19T>C rs767766248 0.00001
NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp) rs1173472655 0.00001
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979 0.00001
NM_017780.4(CHD7):c.3867T>A (p.Ala1289=) rs369188078 0.00001
NM_017780.4(CHD7):c.3885T>A (p.Ile1295=) rs1804734683 0.00001
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) rs371595829 0.00001
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val) rs1242697341 0.00001
NM_017780.4(CHD7):c.3990-9G>A rs754476891 0.00001
NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser) rs778797882 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.4125C>T (p.Leu1375=) rs368936058 0.00001
NM_017780.4(CHD7):c.4185+17G>A rs1396813105 0.00001
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=) rs898986489 0.00001
NM_017780.4(CHD7):c.4203T>C (p.His1401=) rs969238742 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.4317A>G (p.Leu1439=) rs1400027837 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.4416C>A (p.Leu1472=) rs546733576 0.00001
NM_017780.4(CHD7):c.4446C>T (p.Phe1482=) rs1804820497 0.00001
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=) rs1233377890 0.00001
NM_017780.4(CHD7):c.4533+10G>A rs1158235448 0.00001
NM_017780.4(CHD7):c.4534-4T>G rs762875935 0.00001
NM_017780.4(CHD7):c.4534-7T>G rs757333865 0.00001
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=) rs530345787 0.00001
NM_017780.4(CHD7):c.4644+20C>T rs1168248095 0.00001
NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys) rs1215517669 0.00001
NM_017780.4(CHD7):c.474C>T (p.Ala158=) rs1056527329 0.00001
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp) rs773187713 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.4800C>T (p.Gly1600=) rs201671109 0.00001
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr) rs375951527 0.00001
NM_017780.4(CHD7):c.4850+11C>T rs771785767 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.4857A>G (p.Gly1619=) rs2487969339 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.4879C>T (p.His1627Tyr) rs769675553 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.5043C>T (p.Asn1681=) rs772125561 0.00001
NM_017780.4(CHD7):c.5050+17C>G rs907564726 0.00001
NM_017780.4(CHD7):c.5050+20T>A rs760955712 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.5087A>G (p.Lys1696Arg) rs755896254 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.515C>T (p.Pro172Leu) rs199933688 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+14G>C rs570609542 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.5215C>T (p.Leu1739=) rs375374735 0.00001
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=) rs768337293 0.00001
NM_017780.4(CHD7):c.5300+9G>A rs938226985 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.5399A>G (p.Lys1800Arg) rs1481262806 0.00001
NM_017780.4(CHD7):c.5404+10G>A rs780602451 0.00001
NM_017780.4(CHD7):c.5405-6G>A rs752193065 0.00001
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) rs755632561 0.00001
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599 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.5512A>G (p.Met1838Val) rs759918327 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.5534+19A>C rs778676629 0.00001
NM_017780.4(CHD7):c.557T>C (p.Met186Thr) rs1469146074 0.00001
NM_017780.4(CHD7):c.5607+7A>G rs1805434580 0.00001
NM_017780.4(CHD7):c.5665+9C>T rs568256905 0.00001
NM_017780.4(CHD7):c.5666-19T>C rs1805474762 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His) rs1415922203 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.5887C>T (p.Arg1963Trp) rs370280397 0.00001
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=) rs1460326156 0.00001
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=) rs1805505156 0.00001
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00001
NM_017780.4(CHD7):c.6104-5T>C rs376131239 0.00001
NM_017780.4(CHD7):c.6104-9G>A rs567669913 0.00001
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=) rs971901802 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.6236A>C (p.Lys2079Thr) rs377497122 0.00001
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) rs773114816 0.00001
NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr) rs752317345 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr) rs774815426 0.00001
NM_017780.4(CHD7):c.6381A>G (p.Ala2127=) rs1181483398 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.6588C>T (p.Thr2196=) rs746103884 0.00001
NM_017780.4(CHD7):c.6624G>A (p.Glu2208=) rs762541154 0.00001
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=) rs1303965802 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.6776-12C>T rs1192088960 0.00001
NM_017780.4(CHD7):c.6776-15T>G rs557016513 0.00001
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=) rs777945326 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.6831C>T (p.Ser2277=) rs572350789 0.00001
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) rs542880173 0.00001
NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu) rs768152792 0.00001
NM_017780.4(CHD7):c.6933T>C (p.Pro2311=) rs1805619139 0.00001
NM_017780.4(CHD7):c.6936+19C>G rs1410303595 0.00001
NM_017780.4(CHD7):c.6937-13C>T rs1293035436 0.00001
NM_017780.4(CHD7):c.6937-8C>T rs765520430 0.00001
NM_017780.4(CHD7):c.6937-9T>G rs1203336052 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu) rs1453511678 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.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017780.4(CHD7):c.7165-18G>A rs891227803 0.00001
NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys) rs370086501 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.722A>G (p.Gln241Arg) rs1411075980 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.723G>C (p.Gln241His) rs901153300 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.7455C>T (p.Leu2485=) rs1346904265 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676 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.7586A>G (p.His2529Arg) rs756572879 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.7609-7T>C rs745569961 0.00001
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser) rs1341387039 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln) rs369807016 0.00001
NM_017780.4(CHD7):c.7713T>C (p.Val2571=) rs561255469 0.00001
NM_017780.4(CHD7):c.7743G>C (p.Val2581=) rs779571840 0.00001
NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu) rs1427104456 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.7830+15G>A rs776953479 0.00001
NM_017780.4(CHD7):c.7831-12T>C rs912199594 0.00001
NM_017780.4(CHD7):c.7831-17T>C rs777041721 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.7914A>C (p.Ile2638=) rs1806033383 0.00001
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln) rs747082615 0.00001
NM_017780.4(CHD7):c.7962T>C (p.Asn2654=) rs1372823546 0.00001
NM_017780.4(CHD7):c.7971+15A>G rs1194652365 0.00001
NM_017780.4(CHD7):c.7971+7G>A rs554518877 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.7972-8C>T rs1489909029 0.00001
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val) rs1305494953 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.8077-10T>C rs763792709 0.00001
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile) rs1484121127 0.00001
NM_017780.4(CHD7):c.813C>T (p.His271=) rs773253450 0.00001
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=) rs767530497 0.00001
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser) rs1284559737 0.00001
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855 0.00001
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=) rs1369699481 0.00001
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884 0.00001
NM_017780.4(CHD7):c.8317A>G (p.Met2773Val) rs1351681547 0.00001
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=) rs774358319 0.00001
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr) rs935815422 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.8425G>A (p.Val2809Met) rs763048936 0.00001
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365 0.00001
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=) rs1249032872 0.00001
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn) rs1055076550 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.8773G>A (p.Ala2925Thr) rs762344310 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.8869G>A (p.Asp2957Asn) rs762553908 0.00001
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) rs1308226776 0.00001
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala) rs747781367 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017780.4(CHD7):c.988C>G (p.Gln330Glu) rs1053945677 0.00001
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=) rs965528935
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=) rs1365366463
NM_012431.3(SEMA3E):c.1044C>T (p.Ser348=)
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=) rs2484313626
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) rs2115627595
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=) rs2484310498
NM_012431.3(SEMA3E):c.1143+15A>G rs775045251
NM_012431.3(SEMA3E):c.1144-12C>T rs2484306128
NM_012431.3(SEMA3E):c.1144-13A>G rs2484306134
NM_012431.3(SEMA3E):c.1144-15C>A rs1788212481
NM_012431.3(SEMA3E):c.1144-19_1144-15del rs755190119
NM_012431.3(SEMA3E):c.115+9C>G
NM_012431.3(SEMA3E):c.116-16T>A rs771714740
NM_012431.3(SEMA3E):c.116-19G>A
NM_012431.3(SEMA3E):c.116-7A>T rs2115977179
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=) rs2115617225
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=) rs2484305935
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=) rs1485509651
NM_012431.3(SEMA3E):c.1263A>G (p.Lys421=)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=) rs149235216
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1362G>C (p.Gly454=)
NM_012431.3(SEMA3E):c.1366+11G>T rs369202554
NM_012431.3(SEMA3E):c.1367-17GTTTT[3] rs1464565533
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=) rs1307985829
NM_012431.3(SEMA3E):c.1458+11C>T rs1280626597
NM_012431.3(SEMA3E):c.1458+19A>G rs2115600702
NM_012431.3(SEMA3E):c.1459-11del rs1788078377
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=) rs2484295368
NM_012431.3(SEMA3E):c.1500+14G>T
NM_012431.3(SEMA3E):c.1500+16G>A rs2484295178
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) rs1788042634
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=) rs1255859450
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=) rs140094033
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=) rs1274792757
NM_012431.3(SEMA3E):c.1667+19T>A
NM_012431.3(SEMA3E):c.1667+8G>T rs764096552
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.1668-18G>A
NM_012431.3(SEMA3E):c.1668-18G>T rs771755120
NM_012431.3(SEMA3E):c.1695T>C (p.His565=)
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 rs2484278992
NM_012431.3(SEMA3E):c.1736-13G>T rs1296337014
NM_012431.3(SEMA3E):c.1736-9C>T rs1389443786
NM_012431.3(SEMA3E):c.1809C>T (p.Thr603=)
NM_012431.3(SEMA3E):c.1854A>G (p.Gly618=)
NM_012431.3(SEMA3E):c.1875+15C>A rs1325542892
NM_012431.3(SEMA3E):c.1875+17T>G rs2116916358
NM_012431.3(SEMA3E):c.1875+20T>G rs2484275154
NM_012431.3(SEMA3E):c.1876-14T>A rs891019060
NM_012431.3(SEMA3E):c.1876-20T>A
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1876-5T>C rs1794699166
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=) rs2484247477
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) rs1794698394
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=) rs1794697965
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=) rs1227791868
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=) rs753319647
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=) rs1204754055
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=) rs1340292086
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) rs757700378
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=) rs759436104
NM_012431.3(SEMA3E):c.2124A>G (p.Pro708=)
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2196A>G (p.Val732=)
NM_012431.3(SEMA3E):c.2280T>C (p.Arg760=)
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.246C>T (p.Ser82=)
NM_012431.3(SEMA3E):c.276+10T>C rs1790348444
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=) rs1324302570
NM_012431.3(SEMA3E):c.336+14A>G rs1236600299
NM_012431.3(SEMA3E):c.337-18C>G rs369724967
NM_012431.3(SEMA3E):c.393G>A (p.Leu131=)
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.420A>T (p.Pro140=)
NM_012431.3(SEMA3E):c.441T>C (p.Val147=)
NM_012431.3(SEMA3E):c.456+11T>A rs1200838084
NM_012431.3(SEMA3E):c.456+19T>C
NM_012431.3(SEMA3E):c.505A>C (p.Arg169=)
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=) rs1437484719
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) rs944160895
NM_012431.3(SEMA3E):c.551-10T>C
NM_012431.3(SEMA3E):c.551-14A>T rs373998559
NM_012431.3(SEMA3E):c.551-18A>G rs774812464
NM_012431.3(SEMA3E):c.551-7C>T
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=) rs758176634
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) rs1788369340
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=) rs2484323432
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) rs2115654801
NM_012431.3(SEMA3E):c.624A>G (p.Arg208=)
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=) rs1426446541
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=) rs1301881220
NM_012431.3(SEMA3E):c.670+8T>A rs768220512
NM_012431.3(SEMA3E):c.670+8T>C
NM_012431.3(SEMA3E):c.671-16T>C rs2484321279
NM_012431.3(SEMA3E):c.671-19C>T rs375797663
NM_012431.3(SEMA3E):c.671-5T>G
NM_012431.3(SEMA3E):c.671-7C>T rs1255502131
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) rs2115649282
NM_012431.3(SEMA3E):c.6A>G (p.Ala2=)
NM_012431.3(SEMA3E):c.732A>G (p.Val244=) rs747116916
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=) rs772083253
NM_012431.3(SEMA3E):c.813+10TC[3] rs750277965
NM_012431.3(SEMA3E):c.813+20_813+22del rs1330813273
NM_012431.3(SEMA3E):c.814-18C>G rs1027659475
NM_012431.3(SEMA3E):c.814-20C>T rs906077099
NM_012431.3(SEMA3E):c.814-9T>C rs1562767558
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=) rs935265969
NM_012431.3(SEMA3E):c.819T>C (p.Asp273=)
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.906T>C (p.Ile302=)
NM_012431.3(SEMA3E):c.90C>T (p.His30=) rs919228737
NM_012431.3(SEMA3E):c.928+12T>G rs2484317497
NM_012431.3(SEMA3E):c.93C>T (p.Pro31=)
NM_012431.3(SEMA3E):c.998+12A>G
NM_012431.3(SEMA3E):c.998+9T>G rs2484316406
NM_012431.3(SEMA3E):c.999-19T>C rs2115628543
NM_012431.3(SEMA3E):c.999-9A>G rs776954864
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=) rs754589877
NM_017780.4(CHD7):c.1035A>C (p.Pro345=) rs992152858
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.1134A>T (p.Thr378=)
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.1221C>T (p.Gly407=) rs1809105436
NM_017780.4(CHD7):c.1233A>G (p.Pro411=) rs1809107487
NM_017780.4(CHD7):c.1254T>C (p.Ala418=)
NM_017780.4(CHD7):c.1260A>C (p.Ile420=) rs1332728138
NM_017780.4(CHD7):c.1263A>G (p.Pro421=)
NM_017780.4(CHD7):c.1311C>T (p.His437=) rs1809114308
NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser) rs772369092
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg) rs762891322
NM_017780.4(CHD7):c.1356C>T (p.Pro452=) rs2487281521
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=) rs766339850
NM_017780.4(CHD7):c.1449T>G (p.Val483=) rs2487282747
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr) rs758605710
NM_017780.4(CHD7):c.1518A>G (p.Pro506=)
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1563G>C (p.Pro521=)
NM_017780.4(CHD7):c.1581T>C (p.Ser527=) rs1809135916
NM_017780.4(CHD7):c.1587T>G (p.Pro529=)
NM_017780.4(CHD7):c.1632C>G (p.Pro544=) rs45536935
NM_017780.4(CHD7):c.1653G>A (p.Val551=) rs778672061
NM_017780.4(CHD7):c.1665+10C>G rs1809141932
NM_017780.4(CHD7):c.1665+16G>A rs2150581557
NM_017780.4(CHD7):c.1665+8G>T
NM_017780.4(CHD7):c.1666-10T>C
NM_017780.4(CHD7):c.1666-20T>C rs2487535730
NM_017780.4(CHD7):c.1666-5C>A rs2487535868
NM_017780.4(CHD7):c.1671C>T (p.Ser557=) rs1811190654
NM_017780.4(CHD7):c.1674G>A (p.Pro558=) rs763024481
NM_017780.4(CHD7):c.1674G>T (p.Pro558=) rs763024481
NM_017780.4(CHD7):c.171T>C (p.Pro57=) rs1196290112
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) rs780953224
NM_017780.4(CHD7):c.1740A>G (p.Leu580=) rs2487537030
NM_017780.4(CHD7):c.1759C>T (p.Leu587=) rs866602168
NM_017780.4(CHD7):c.1761G>T (p.Leu587=) rs2487537287
NM_017780.4(CHD7):c.1785A>G (p.Gln595=) rs2487537532
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1812C>T (p.Asn604=) rs764607908
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile) rs762168448
NM_017780.4(CHD7):c.1862C>A (p.Pro621His) rs1229088933
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp) rs375905260
NM_017780.4(CHD7):c.1944G>A (p.Lys648=)
NM_017780.4(CHD7):c.1971A>G (p.Lys657=) rs770172530
NM_017780.4(CHD7):c.1980G>A (p.Lys660=) rs2150669967
NM_017780.4(CHD7):c.2004C>T (p.Pro668=) rs2487540332
NM_017780.4(CHD7):c.201A>C (p.Thr67=) rs1002372007
NM_017780.4(CHD7):c.2022T>C (p.Pro674=) rs2487540599
NM_017780.4(CHD7):c.2037G>A (p.Glu679=) rs2487540755
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2076C>T (p.Pro692=) rs1811224205
NM_017780.4(CHD7):c.2096+23_2096+25del rs1811226936
NM_017780.4(CHD7):c.2096+8G>A rs2487541580
NM_017780.4(CHD7):c.2097-18A>G
NM_017780.4(CHD7):c.2097-5dup
NM_017780.4(CHD7):c.2118A>G (p.Glu706=) rs2150697530
NM_017780.4(CHD7):c.2130G>A (p.Leu710=)
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp) rs1222692405
NM_017780.4(CHD7):c.2175A>C (p.Ser725=) rs1471731176
NM_017780.4(CHD7):c.2182G>A (p.Asp728Asn)
NM_017780.4(CHD7):c.2187A>G (p.Lys729=) rs1405754910
NM_017780.4(CHD7):c.2196A>G (p.Pro732=) rs1224386715
NM_017780.4(CHD7):c.2199A>G (p.Pro733=) rs775076971
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2232T>G (p.Gly744=) rs2487635557
NM_017780.4(CHD7):c.2238+7C>T rs766163847
NM_017780.4(CHD7):c.2283A>G (p.Glu761=) rs1372243680
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val) rs1469195833
NM_017780.4(CHD7):c.2349C>T (p.Pro783=)
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2376+17T>C
NM_017780.4(CHD7):c.2376+19G>A
NM_017780.4(CHD7):c.2376+8C>A rs1331200503
NM_017780.4(CHD7):c.2376+9C>T rs2150709106
NM_017780.4(CHD7):c.2377-8T>C
NM_017780.4(CHD7):c.2377-8T>G rs777518407
NM_017780.4(CHD7):c.2377-9T>C rs2487681740
NM_017780.4(CHD7):c.2391A>G (p.Ala797=) rs1812312012
NM_017780.4(CHD7):c.2400A>C (p.Pro800=) rs1586352829
NM_017780.4(CHD7):c.2442+10A>G rs773550493
NM_017780.4(CHD7):c.2442+11T>C rs1208883480
NM_017780.4(CHD7):c.2442+12del rs2487682883
NM_017780.4(CHD7):c.2442+18C>T
NM_017780.4(CHD7):c.2443-11T>G rs2150723881
NM_017780.4(CHD7):c.2448A>G (p.Glu816=) rs2487727479
NM_017780.4(CHD7):c.2480A>G (p.Tyr827Cys)
NM_017780.4(CHD7):c.2496C>T (p.Asn832=) rs1455553468
NM_017780.4(CHD7):c.2498+14G>C rs2487728113
NM_017780.4(CHD7):c.2498+15del rs1435429758
NM_017780.4(CHD7):c.2498+3A>G rs2150723994
NM_017780.4(CHD7):c.2499-10G>T rs1351318078
NM_017780.4(CHD7):c.2499-17T>C rs2487773740
NM_017780.4(CHD7):c.2499-18A>G rs1404555857
NM_017780.4(CHD7):c.2499-19del rs757104700
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr) rs759815314
NM_017780.4(CHD7):c.2568T>A (p.Ile856=)
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu) rs1355349547
NM_017780.4(CHD7):c.2592C>T (p.Gly864=)
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg) rs750135347
NM_017780.4(CHD7):c.2613+11C>T rs1247098463
NM_017780.4(CHD7):c.2613+14G>C
NM_017780.4(CHD7):c.2613+18A>G
NM_017780.4(CHD7):c.2613+19C>A rs2487775150
NM_017780.4(CHD7):c.2613+23del rs772369408
NM_017780.4(CHD7):c.2613+8dup rs2150739145
NM_017780.4(CHD7):c.2613+9_2613+10dup rs1381823567
NM_017780.4(CHD7):c.2614-11dup rs2487792371
NM_017780.4(CHD7):c.2614-6G>A
NM_017780.4(CHD7):c.2614-9T>C rs2150745067
NM_017780.4(CHD7):c.2619G>A (p.Glu873=)
NM_017780.4(CHD7):c.2625G>A (p.Glu875=) rs2150745168
NM_017780.4(CHD7):c.2639A>T (p.Asp880Val)
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly) rs916713081
NM_017780.4(CHD7):c.2697+7G>A rs1200433153
NM_017780.4(CHD7):c.2698-19T>G rs1804052463
NM_017780.4(CHD7):c.2698-9C>G
NM_017780.4(CHD7):c.2698-9C>T rs2487804376
NM_017780.4(CHD7):c.2730A>G (p.Ser910=) rs1368229041
NM_017780.4(CHD7):c.2763G>A (p.Arg921=)
NM_017780.4(CHD7):c.2766G>A (p.Gln922=) rs2487805089
NM_017780.4(CHD7):c.2769C>T (p.Asp923=) rs1375498221
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu) rs749781431
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=) rs2487256778
NM_017780.4(CHD7):c.2835+13T>C
NM_017780.4(CHD7):c.2835+16T>C
NM_017780.4(CHD7):c.2835+18G>A rs143580627
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.2836-10T>A rs2487806712
NM_017780.4(CHD7):c.2836-13A>G rs757536080
NM_017780.4(CHD7):c.2836-16A>C rs1804064776
NM_017780.4(CHD7):c.2836-16A>G rs1804064776
NM_017780.4(CHD7):c.2836-20A>G
NM_017780.4(CHD7):c.2856T>C (p.Asp952=)
NM_017780.4(CHD7):c.2868G>A (p.Ser956=) rs371363909
NM_017780.4(CHD7):c.2880G>A (p.Arg960=) rs1554597489
NM_017780.4(CHD7):c.2897A>G (p.Asn966Ser)
NM_017780.4(CHD7):c.2898C>T (p.Asn966=) rs2487807366
NM_017780.4(CHD7):c.2957+15T>A rs1804073006
NM_017780.4(CHD7):c.3006G>A (p.Gln1002=)
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His) rs560026909
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=) rs1804095038
NM_017780.4(CHD7):c.303G>C (p.Pro101=)
NM_017780.4(CHD7):c.3069C>G (p.Ala1023=) rs752082385
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=) rs1804097354
NM_017780.4(CHD7):c.3078C>T (p.Ser1026=) rs199607816
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.318C>T (p.His106=) rs2150577900
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) rs771941657
NM_017780.4(CHD7):c.3198C>G (p.Pro1066=) rs1370913229
NM_017780.4(CHD7):c.3201+16T>G rs763268960
NM_017780.4(CHD7):c.3201+19T>A
NM_017780.4(CHD7):c.3201+20A>T
NM_017780.4(CHD7):c.3202-18T>A
NM_017780.4(CHD7):c.3202-18T>C rs372636359
NM_017780.4(CHD7):c.3202-4dup
NM_017780.4(CHD7):c.3207A>G (p.Arg1069=)
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=) rs1804154884
NM_017780.4(CHD7):c.327C>G (p.Pro109=) rs1251905425
NM_017780.4(CHD7):c.327C>T (p.Pro109=) rs1251905425
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=) rs2487818935
NM_017780.4(CHD7):c.3294A>G (p.Pro1098=)
NM_017780.4(CHD7):c.3306A>G (p.Val1102=) rs2487819096
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=) rs2487819264
NM_017780.4(CHD7):c.3378+8A>G
NM_017780.4(CHD7):c.3379-12G>C rs775930258
NM_017780.4(CHD7):c.3379-6C>T
NM_017780.4(CHD7):c.3381A>G (p.Glu1127=) rs1015914018
NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr) rs747298346
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=) rs371212381
NM_017780.4(CHD7):c.3492A>G (p.Gln1164=) rs1804368569
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys) rs769949098
NM_017780.4(CHD7):c.3501T>C (p.Gly1167=)
NM_017780.4(CHD7):c.351C>G (p.Gly117=) rs1809034933
NM_017780.4(CHD7):c.3522+19T>C rs2487844631
NM_017780.4(CHD7):c.3522+20T>C rs577146364
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=) rs2487853244
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=) rs760691058
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=) rs750556683
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=) rs780368027
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=) rs1563638250
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=) rs1460675732
NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp) rs1173391141
NM_017780.4(CHD7):c.36G>A (p.Glu12=) rs1809003344
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=) rs2150764981
NM_017780.4(CHD7):c.3778+11C>T rs2487855466
NM_017780.4(CHD7):c.3778+20G>C rs778930641
NM_017780.4(CHD7):c.3778+8T>C rs2487855414
NM_017780.4(CHD7):c.3778+9G>T rs753107781
NM_017780.4(CHD7):c.3779-13C>T rs2487894585
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 rs2150775387
NM_017780.4(CHD7):c.3779-7T>G rs2487894659
NM_017780.4(CHD7):c.3828G>A (p.Glu1276=)
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr) rs746646687
NM_017780.4(CHD7):c.3852A>T (p.Ala1284=) rs1159423857
NM_017780.4(CHD7):c.3858C>A (p.Ile1286=) rs1804733471
NM_017780.4(CHD7):c.3894G>T (p.Leu1298=)
NM_017780.4(CHD7):c.3895C>T (p.Leu1299=)
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=) rs2150775740
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=) rs757404948
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=) rs1804737325
NM_017780.4(CHD7):c.3989+11C>T rs2150775930
NM_017780.4(CHD7):c.3990-11A>T rs183634687
NM_017780.4(CHD7):c.3990-8T>C rs2487902639
NM_017780.4(CHD7):c.4020A>G (p.Val1340=) rs1804766029
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe) rs1478092831
NM_017780.4(CHD7):c.4053A>G (p.Arg1351=)
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=) rs2150777183
NM_017780.4(CHD7):c.4059C>A (p.Ser1353=)
NM_017780.4(CHD7):c.4090C>T (p.Leu1364=)
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=) rs1299474596
NM_017780.4(CHD7):c.411C>G (p.Ser137=) rs1317598292
NM_017780.4(CHD7):c.4128T>C (p.Thr1376=)
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.4217G>A (p.Ser1406Asn) rs1222155579
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=) rs2150778596
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=) rs2487910439
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=) rs2150778641
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=) rs1438656654
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.4353+12C>G rs750118614
NM_017780.4(CHD7):c.4395A>G (p.Arg1465=) rs1804818808
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=) rs1214452736
NM_017780.4(CHD7):c.440C>T (p.Pro147Leu) rs1382370878
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=) rs746168554
NM_017780.4(CHD7):c.442A>C (p.Arg148=) rs1032387527
NM_017780.4(CHD7):c.4437G>T (p.Gly1479=)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys) rs756074454
NM_017780.4(CHD7):c.4470C>T (p.Ile1490=)
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=) rs1563645374
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=) rs1563645374
NM_017780.4(CHD7):c.4509A>G (p.Glu1503=)
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=) rs2487916651
NM_017780.4(CHD7):c.4533+7A>C rs1248727753
NM_017780.4(CHD7):c.4534-11T>C rs2150785971
NM_017780.4(CHD7):c.4534-12T>C rs2487942640
NM_017780.4(CHD7):c.4534-20C>A rs727503866
NM_017780.4(CHD7):c.4573T>C (p.Leu1525=) rs2487943129
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=) rs2150786158
NM_017780.4(CHD7):c.4641G>C (p.Gly1547=) rs2487944104
NM_017780.4(CHD7):c.4644+11A>C rs2487944401
NM_017780.4(CHD7):c.4644+14C>A rs1368983693
NM_017780.4(CHD7):c.4644+15C>A rs922774716
NM_017780.4(CHD7):c.4644+16C>T rs934202812
NM_017780.4(CHD7):c.4644+20C>G
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.4671A>G (p.Arg1557=) rs2150786548
NM_017780.4(CHD7):c.4683G>A (p.Gln1561=) rs2487946088
NM_017780.4(CHD7):c.4686C>A (p.Thr1562=) rs1342840553
NM_017780.4(CHD7):c.4707G>A (p.Lys1569=) rs2487946492
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe) rs560808712
NM_017780.4(CHD7):c.4767A>G (p.Ala1589=)
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=) rs1804995461
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=) rs1804995461
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=) rs1804997270
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=) rs756787300
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) rs1164615393
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG rs2150787035
NM_017780.4(CHD7):c.4850+9G>T rs2150787043
NM_017780.4(CHD7):c.4851-15A>T
NM_017780.4(CHD7):c.4851-18T>C rs2487969149
NM_017780.4(CHD7):c.4851-4G>T rs1277366059
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=) rs1441410913
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu) rs1332300386
NM_017780.4(CHD7):c.4917A>G (p.Val1639=) rs1217063085
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=) rs1805142590
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=) rs2487971291
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln) rs1402277138
NM_017780.4(CHD7):c.5050+13C>T rs2487971884
NM_017780.4(CHD7):c.5050+17C>T rs907564726
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 rs1281924902
NM_017780.4(CHD7):c.5051-17T>A rs754678467
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
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.5092G>T (p.Val1698Leu) rs777744183
NM_017780.4(CHD7):c.5115G>T (p.Pro1705=)
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=) rs939102830
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.518C>T (p.Ala173Val) rs759229667
NM_017780.4(CHD7):c.5202C>T (p.His1734=) rs1805162254
NM_017780.4(CHD7):c.5210+12G>C rs2487976613
NM_017780.4(CHD7):c.5210+13A>G
NM_017780.4(CHD7):c.5210+16G>A rs747154720
NM_017780.4(CHD7):c.5210+9T>G rs753589296
NM_017780.4(CHD7):c.5211-11T>C
NM_017780.4(CHD7):c.5211-14G>A rs962464832
NM_017780.4(CHD7):c.5211-16C>T
NM_017780.4(CHD7):c.5211-16_5211-15del rs771116507
NM_017780.4(CHD7):c.5211-17T>A rs1805309524
NM_017780.4(CHD7):c.5211-18C>A rs749368541
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 rs371367716
NM_017780.4(CHD7):c.5211-19C>T
NM_017780.4(CHD7):c.5211-3del rs1586437092
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=) rs1383005059
NM_017780.4(CHD7):c.5256G>A (p.Val1752=) rs1300830933
NM_017780.4(CHD7):c.5262A>C (p.Gly1754=)
NM_017780.4(CHD7):c.5277G>T (p.Lys1759Asn)
NM_017780.4(CHD7):c.5300+11G>A rs766373014
NM_017780.4(CHD7):c.5300+12C>T rs2150800698
NM_017780.4(CHD7):c.5300+8C>A rs151322460
NM_017780.4(CHD7):c.5301-10T>G rs2488003125
NM_017780.4(CHD7):c.5301-16A>C
NM_017780.4(CHD7):c.5301-17T>A
NM_017780.4(CHD7):c.5301-17T>C rs768143056
NM_017780.4(CHD7):c.5301-7C>T
NM_017780.4(CHD7):c.531C>T (p.Pro177=) rs1809052106
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=) rs1193245061
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=) rs2150801685
NM_017780.4(CHD7):c.534T>C (p.Pro178=)
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=) rs2488004269
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=) rs559748498
NM_017780.4(CHD7):c.5404+10G>T
NM_017780.4(CHD7):c.5404+14C>T rs2150801886
NM_017780.4(CHD7):c.5404+15T>C
NM_017780.4(CHD7):c.5424C>T (p.Ser1808=)
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=) rs2150804680
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=) rs1427419032
NM_017780.4(CHD7):c.54T>C (p.Ser18=) rs2150577330
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=) rs2150804893
NM_017780.4(CHD7):c.5535-11_5535-8del
NM_017780.4(CHD7):c.5535-19T>C rs2488020863
NM_017780.4(CHD7):c.5535-20T>C rs1394659038
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=) rs2488021161
NM_017780.4(CHD7):c.5565A>G (p.Pro1855=) rs752961577
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=) rs1434688374
NM_017780.4(CHD7):c.5586A>G (p.Thr1862=)
NM_017780.4(CHD7):c.5588C>T (p.Pro1863Leu)
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=) rs376806146
NM_017780.4(CHD7):c.5607+13G>A rs1482491414
NM_017780.4(CHD7):c.5607+14T>C rs937928190
NM_017780.4(CHD7):c.5608-13C>G rs764763281
NM_017780.4(CHD7):c.5608-7T>G rs777265079
NM_017780.4(CHD7):c.5625T>G (p.Pro1875=) rs764844969
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val) rs749861487
NM_017780.4(CHD7):c.5661C>T (p.Ala1887=)
NM_017780.4(CHD7):c.5665+13A>G rs2150806324
NM_017780.4(CHD7):c.5665+18C>G rs1449592730
NM_017780.4(CHD7):c.5665+7T>C rs2488024354
NM_017780.4(CHD7):c.5666-18G>A rs2488028737
NM_017780.4(CHD7):c.5666-4C>T
NM_017780.4(CHD7):c.5666-5C>T rs2488028933
NM_017780.4(CHD7):c.5667C>G (p.Gly1889=)
NM_017780.4(CHD7):c.5725C>T (p.Leu1909=)
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=) rs2150807633
NM_017780.4(CHD7):c.5745G>T (p.Arg1915=)
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=) rs2150807756
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.5865G>A (p.Arg1955=) rs1448374029
NM_017780.4(CHD7):c.5886G>A (p.Lys1962=)
NM_017780.4(CHD7):c.588G>C (p.Gly196=) rs1045266237
NM_017780.4(CHD7):c.5894+14A>C
NM_017780.4(CHD7):c.5894+15G>T rs1210708387
NM_017780.4(CHD7):c.5895-18A>G rs749637476
NM_017780.4(CHD7):c.5895-18_5895-17insGA rs1805499097
NM_017780.4(CHD7):c.5895-5A>T rs1805499680
NM_017780.4(CHD7):c.5895-8T>G rs1220156630
NM_017780.4(CHD7):c.5901A>G (p.Thr1967=)
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=) rs2150808715
NM_017780.4(CHD7):c.5927G>A (p.Arg1976His)
NM_017780.4(CHD7):c.5931G>A (p.Val1977=) rs2488035459
NM_017780.4(CHD7):c.5958C>T (p.Asp1986=)
NM_017780.4(CHD7):c.5964G>C (p.Val1988=)
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.5995G>A (p.Ala1999Thr) rs1064794548
NM_017780.4(CHD7):c.6018A>G (p.Lys2006=)
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=) rs1805504711
NM_017780.4(CHD7):c.6090C>A (p.Val2030=) rs2150809096
NM_017780.4(CHD7):c.6104-11C>A
NM_017780.4(CHD7):c.6104-12del rs767323153
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=) rs2488038779
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.6170G>A (p.Arg2057His)
NM_017780.4(CHD7):c.6201G>A (p.Gln2067=)
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=) rs1805526666
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=) rs2488040763
NM_017780.4(CHD7):c.6282A>T (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6285G>T (p.Arg2095=) rs1805530901
NM_017780.4(CHD7):c.6324G>A (p.Gly2108=)
NM_017780.4(CHD7):c.6327C>T (p.Val2109=) rs2150810128
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln) rs1407743636
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=) rs1805537656
NM_017780.4(CHD7):c.6383A>G (p.His2128Arg) rs759810386
NM_017780.4(CHD7):c.6393T>C (p.Phe2131=) rs2150810295
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=) rs2488043086
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.6461C>T (p.Pro2154Leu) rs1805544418
NM_017780.4(CHD7):c.6468C>G (p.Val2156=) rs777858802
NM_017780.4(CHD7):c.651A>G (p.Gln217=) rs1302704794
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=) rs2488044978
NM_017780.4(CHD7):c.6594C>T (p.Gly2198=) rs2488045916
NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp) rs747357928
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.6620G>A (p.Cys2207Tyr)
NM_017780.4(CHD7):c.6631G>A (p.Ala2211Thr)
NM_017780.4(CHD7):c.6690A>G (p.Lys2230=) rs2488047378
NM_017780.4(CHD7):c.6692C>T (p.Ser2231Phe)
NM_017780.4(CHD7):c.6693T>C (p.Ser2231=) rs2488047438
NM_017780.4(CHD7):c.669A>G (p.Gly223=) rs751652088
NM_017780.4(CHD7):c.6723A>G (p.Glu2241=)
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.6775+14A>G
NM_017780.4(CHD7):c.6775+19C>T rs764005520
NM_017780.4(CHD7):c.6776-13A>G rs2150813272
NM_017780.4(CHD7):c.6816C>T (p.Ser2272=)
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser) rs745361070
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn) rs2488056894
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=) rs2150813513
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) rs767696409
NM_017780.4(CHD7):c.6895C>A (p.Leu2299Ile)
NM_017780.4(CHD7):c.690A>G (p.Ser230=) rs926628835
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6936+15_6936+18del
NM_017780.4(CHD7):c.6936+19C>T
NM_017780.4(CHD7):c.6936+7A>T rs2488058099
NM_017780.4(CHD7):c.6937-19A>G rs2488067255
NM_017780.4(CHD7):c.6981G>A (p.Val2327=) rs576926206
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=) rs2488067895
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.7006A>C (p.Arg2336=) rs2488068028
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.7053C>T (p.Pro2351=)
NM_017780.4(CHD7):c.7062G>A (p.Val2354=) rs1805692665
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.7098C>T (p.Leu2366=)
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=) rs748399177
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg) rs185940313
NM_017780.4(CHD7):c.7127G>A (p.Gly2376Glu)
NM_017780.4(CHD7):c.712G>C (p.Val238Leu) rs200898742
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=) rs1450918582
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=) rs867921812
NM_017780.4(CHD7):c.7164+14G>C rs2488069783
NM_017780.4(CHD7):c.7164+16T>C rs547477059
NM_017780.4(CHD7):c.7165-16T>C rs2488071841
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser) rs1425669718
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=) rs545381857
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys) rs2488072248
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=) rs771141688
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=) rs2488073118
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=) rs2488074452
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017780.4(CHD7):c.732C>T (p.Ser244=)
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=) rs1805730448
NM_017780.4(CHD7):c.739C>T (p.Pro247Ser)
NM_017780.4(CHD7):c.7428T>C (p.Asp2476=) rs886038636
NM_017780.4(CHD7):c.7443A>C (p.Gln2481His)
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7458A>G (p.Gln2486=) rs2129651419
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val) rs1349434680
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp) rs371595770
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=) rs780608336
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=) rs1805737171
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=) rs1026956983
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=) rs1563665717
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=) rs1805741140
NM_017780.4(CHD7):c.756G>T (p.Ser252=) rs371000762
NM_017780.4(CHD7):c.7600T>C (p.Leu2534=)
NM_017780.4(CHD7):c.7608+7dup rs2488079257
NM_017780.4(CHD7):c.7608+9G>T rs2129654194
NM_017780.4(CHD7):c.7609-12A>C rs2488105949
NM_017780.4(CHD7):c.7609-18A>G rs923906445
NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn) rs1173657826
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.7664G>A (p.Arg2555Lys)
NM_017780.4(CHD7):c.7674T>G (p.Pro2558=)
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=) rs766082826
NM_017780.4(CHD7):c.7715T>C (p.Ile2572Thr)
NM_017780.4(CHD7):c.7743G>A (p.Val2581=) rs779571840
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.7818A>G (p.Pro2606=) rs764474527
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=) rs2488109061
NM_017780.4(CHD7):c.7824T>C (p.Tyr2608=)
NM_017780.4(CHD7):c.7830+18T>C
NM_017780.4(CHD7):c.7830+20G>A rs2488109329
NM_017780.4(CHD7):c.7830+8T>C rs2488109171
NM_017780.4(CHD7):c.7831-14T>C rs762081636
NM_017780.4(CHD7):c.7831-18A>G
NM_017780.4(CHD7):c.7831-20A>G rs1563670437
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=) rs2487270223
NM_017780.4(CHD7):c.789T>A (p.Ala263=) rs2487270273
NM_017780.4(CHD7):c.789T>C (p.Ala263=) rs2487270273
NM_017780.4(CHD7):c.7971+11G>A rs2129722219
NM_017780.4(CHD7):c.7971+17G>A
NM_017780.4(CHD7):c.7971+17G>T rs2488119092
NM_017780.4(CHD7):c.8004T>C (p.Asp2668=) rs1363359466
NM_017780.4(CHD7):c.8076+10A>G
NM_017780.4(CHD7):c.8076+14G>A rs1251720838
NM_017780.4(CHD7):c.8076+14G>T rs1251720838
NM_017780.4(CHD7):c.8076+16A>G rs1236099189
NM_017780.4(CHD7):c.8077-12C>T rs558533630
NM_017780.4(CHD7):c.8077-17C>T rs2488141828
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=) rs952299853
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=) rs2488143193
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=) rs961395615
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr) rs2488143378
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) rs878855033
NM_017780.4(CHD7):c.81T>C (p.Cys27=) rs2487257595
NM_017780.4(CHD7):c.8202T>C (p.Ala2734=) rs2488143591
NM_017780.4(CHD7):c.8208C>T (p.Ala2736=) rs1346132011
NM_017780.4(CHD7):c.8223C>T (p.Ile2741=)
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His) rs772957679
NM_017780.4(CHD7):c.8267C>T (p.Thr2756Met)
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=) rs903775787
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=) rs2488144844
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=) rs1438230414
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.8383G>A (p.Val2795Met) rs553548797
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=) rs1456853824
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=) rs1456853824
NM_017780.4(CHD7):c.8439C>G (p.Gly2813=) rs201132710
NM_017780.4(CHD7):c.8442G>A (p.Gly2814=) rs755632186
NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys) rs1261230568
NM_017780.4(CHD7):c.8454C>T (p.Asn2818=) rs1261230568
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.852T>C (p.Ala284=)
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) rs367756884
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe) rs746986165
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) rs374937585
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=) rs1806208403
NM_017780.4(CHD7):c.867C>A (p.Thr289=) rs2487272007
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile) rs2129768305
NM_017780.4(CHD7):c.870T>G (p.Leu290=)
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=) rs746128427
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=) rs746128427
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val) rs775900929
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=) rs1465616826
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=) rs764698095
NM_017780.4(CHD7):c.8805A>G (p.Glu2935=) rs1563674855
NM_017780.4(CHD7):c.8835A>T (p.Gly2945=)
NM_017780.4(CHD7):c.8847T>C (p.Asp2949=)
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=) rs2129771538
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=) rs1419904512
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=) rs2488154670
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=) rs2488155372
NM_017780.4(CHD7):c.8958G>A (p.Gly2986=)
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=) rs1489741574
NM_017780.4(CHD7):c.897C>T (p.Val299=) rs1355286515
NM_017780.4(CHD7):c.924G>T (p.Gly308=) rs1238123231
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys) rs1436515577
NM_017780.4(CHD7):c.939T>C (p.Tyr313=)
NM_017780.4(CHD7):c.951C>T (p.Asn317=) rs770785044

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.