ClinVar Miner

List of variants studied for CHARGE association

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ClinVar version:
Total variants: 812
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HGVS dbSNP
CHD7, DEL EXONS 8-12
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NM_001042681.2(RERE):c.4307_4312TCCACC[3] (p.1436_1437LH[3]) rs1064793252
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Asp122_Thr123insAlaArgHisArg) rs1592047560
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) rs1602257111
NM_001316690.1(CHD7):c.1716+235_1716+236delinsT rs1563595095
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_003482.3(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) rs754754690
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) rs751565672
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) rs1584221582
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) rs1327334624
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) rs1420638220
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) rs121918341
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) rs371960755
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) rs752107396
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) rs781381659
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114
NM_012431.3(SEMA3E):c.550+6T>A
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
NM_012431.3(SEMA3E):c.671-10G>A rs372840645
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) rs1295531534
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) rs1554320452
NM_012431.3(SEMA3E):c.999-3C>T
NM_012431.3(SEMA3E):c.999-9A>G rs776954864
NM_017780.3(CHD7):c.*2104T>A rs16926520
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1644A>G rs886063053
NM_017780.4(CHD7):c.*1663_*1664AG[1] rs761460675
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.-465_-463GCG[8] rs71245513
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-490_-488GGC[10] rs886063023
NM_017780.4(CHD7):c.-490_-488GGC[9] rs886063023
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile)
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly)
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe) rs373112189
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177
NM_017780.4(CHD7):c.1193C>A (p.Pro398His) rs1586250714
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser) rs1313265725
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu)
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser)
NM_017780.4(CHD7):c.1260A>G (p.Ile420Met)
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr)
NM_017780.4(CHD7):c.1267del (p.Glu423fs)
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1310A>G (p.His437Arg)
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651
NM_017780.4(CHD7):c.1340_1341AG[1] (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys)
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro)
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg)
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg)
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) rs748635676
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.1554G>C (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu)
NM_017780.4(CHD7):c.1622A>G (p.His541Arg) rs1388338640
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro)
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) rs745476515
NM_017780.4(CHD7):c.1659G>C (p.Val553=) rs1320484884
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) rs746837682
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033
NM_017780.4(CHD7):c.1791_1793GAA[2] (p.Lys602del) rs757119372
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg) rs375905260
NM_017780.4(CHD7):c.187_190CAAA[1] (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu) rs1335682527
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser)
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu)
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys)
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2238+1G>A
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp)
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del)
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) rs1441258013
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr)
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln)
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2613+1G>T
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2614-7G>T rs762399977
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn)
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp)
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln)
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser)
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg)
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter)
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp)
NM_017780.4(CHD7):c.2767dup (p.Asp923fs)
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val)
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys)
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp) rs1586389578
NM_017780.4(CHD7):c.281del (p.Pro94fs)
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys)
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu)
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del)
NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) rs767390470
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val)
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys)
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu)
NM_017780.4(CHD7):c.3201+1G>A
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln)
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys)
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) rs1586393514
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379-9T>A rs1586401989
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.33C>T (p.Gly11=)
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)
NM_017780.4(CHD7):c.3470del (p.Pro1157fs)
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs)
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys)
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu)
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro)
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val) rs1586416413
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) rs1563643394
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn)
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138
NM_017780.4(CHD7):c.3989+7A>G rs757622396
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) rs1060503186
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe)
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr)
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp) rs1586417903
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly)
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+1G>T
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4424del (p.Glu1475fs)
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4533+1G>A rs1586420419
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) rs1563648680
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter)
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu)
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys)
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr)
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) rs755340969
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His) rs1249078741
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys)
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys)
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4942_4943GT[1] (p.Tyr1649fs)
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln)
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg) rs921201693
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5051-4C>T rs71640288
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn)
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter)
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796
NM_017780.4(CHD7):c.5199dup (p.His1734fs) rs863224856
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G
NM_017780.4(CHD7):c.5211-2_5227del
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu)
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro) rs1586437186
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His)
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5300+8C>T rs151322460
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn)
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) rs766416900
NM_017780.4(CHD7):c.5330del (p.Phe1777fs)
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) rs1554603283
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg)
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn)
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5405-13G>A rs1131690787
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-18C>A rs199981784
NM_017780.4(CHD7):c.5405-2A>G rs1131692153
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) rs1586440620
NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser)
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) rs753347128
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln) rs753437069
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) rs764844969
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5678_5679AG[3] (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) rs1329534393
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.577A>G (p.Met193Val) rs542672517
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys)
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp)
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly)
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly)
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly)
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.584G>A (p.Arg195His)
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449
NM_017780.4(CHD7):c.5894+5G>A
NM_017780.4(CHD7):c.5895-3C>T
NM_017780.4(CHD7):c.5895-5A>T
NM_017780.4(CHD7):c.5895-8T>G
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.5932del (p.Val1978fs)
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu)
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995
NM_017780.4(CHD7):c.6103+6T>C rs371509438
NM_017780.4(CHD7):c.6103+8C>T rs3763592
NM_017780.4(CHD7):c.6104-2A>T
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6161_6162CT[1] (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met)
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=) rs750835437
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val)
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) rs377497122
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.630G>C (p.Met210Ile)
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe)
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr)
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu)
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser)
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) rs750047137
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly)
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) rs1586446578
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys)
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg)
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521
NM_017780.4(CHD7):c.6669C>T (p.Val2223=) rs556577614
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser)
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter)
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu)
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203
NM_017780.4(CHD7):c.6775+1G>T
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) rs368750638
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser)
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs)
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser)
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly)
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) rs752966093
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter)
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6936+6C>T rs762730711
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6937-9T>G
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly)
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) rs201470035
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile)
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu)
NM_017780.4(CHD7):c.702C>G (p.His234Gln) rs565216093
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met)
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) rs1450918582
NM_017780.4(CHD7):c.7165-4A>G rs1554604915
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252
NM_017780.4(CHD7):c.7180_7181CT[2] (p.Ser2395fs) rs1586452701
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177
NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp)
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter) rs1341064149
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe)
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
NM_017780.4(CHD7):c.7276del (p.Gln2426fs)
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs)
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) rs766091347
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7380_7383TCTT[1] (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His)
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys)
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln)
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser)
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) rs529799008
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.4(CHD7):c.756G>A (p.Ser252=)
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343
NM_017780.4(CHD7):c.7609-4G>T rs955067555
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser)
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter)
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu)
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu)
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) rs754831330
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) rs772124801
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7831-3C>T rs148884686
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala) rs1586462216
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn) rs1586462281
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.7971+6C>G
NM_017780.4(CHD7):c.7971+6C>T rs769103057
NM_017780.4(CHD7):c.7972-10C>G rs912810188
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs)
NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) rs1563670964
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys)
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs)
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu) rs1586467143
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser) rs1586467380
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg)
NM_017780.4(CHD7):c.8278_8286AATCTCCAG[1] (p.2760_2762NLQ[1]) rs747665912
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg) rs1586467620
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=) rs200792215
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr)
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp)
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) rs759567393
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser)
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455
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.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) rs756572992
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg)
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) rs1586468596
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro) rs764758566
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile)
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) rs755028719
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln)
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr)
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser) rs1586469053
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240
NM_017780.4(CHD7):c.910A>G (p.Ile304Val)
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu)
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556
NM_018117.12(WDR11):c.2108G>A (p.Arg703Gln) rs753696030
NM_021140.3(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
Single allele

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