NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser)
|
rs144370841
|
0.00029
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
NM_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr)
|
rs758060734
|
0.00024
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)
|
rs369542138
|
0.00016
|
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys)
|
rs143631464
|
0.00015
|
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys)
|
rs553630404
|
0.00014
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)
|
rs370543242
|
0.00013
|
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn)
|
rs201699077
|
0.00011
|
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly)
|
rs754158945
|
0.00010
|
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser)
|
rs148649507
|
0.00010
|
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser)
|
rs145249878
|
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.608A>G (p.His203Arg)
|
rs375277827
|
0.00009
|
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
|
rs61729605
|
0.00008
|
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)
|
rs768818178
|
0.00008
|
NM_017780.4(CHD7):c.2613+5G>A
|
rs202143667
|
0.00008
|
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu)
|
rs1294102203
|
0.00008
|
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile)
|
rs201514840
|
0.00007
|
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
|
rs373965521
|
0.00006
|
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)
|
rs140160399
|
0.00006
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His)
|
rs767259131
|
0.00006
|
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)
|
rs368747227
|
0.00006
|
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro)
|
rs375067711
|
0.00005
|
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
|
rs558904762
|
0.00005
|
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser)
|
rs752718717
|
0.00005
|
NM_017780.4(CHD7):c.1104C>T (p.His368=)
|
rs763250461
|
0.00005
|
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln)
|
rs767390470
|
0.00005
|
NM_017780.4(CHD7):c.3202-3T>C
|
rs1060503183
|
0.00005
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr)
|
rs771781756
|
0.00005
|
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn)
|
rs370599133
|
0.00005
|
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys)
|
rs368934543
|
0.00005
|
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln)
|
rs746431820
|
0.00004
|
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn)
|
rs1293541067
|
0.00004
|
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
|
rs546414937
|
0.00004
|
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys)
|
rs754754690
|
0.00004
|
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser)
|
rs373711827
|
0.00004
|
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
|
rs767115234
|
0.00004
|
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln)
|
rs769248913
|
0.00004
|
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)
|
rs771976054
|
0.00004
|
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)
|
rs143423970
|
0.00004
|
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln)
|
rs201465097
|
0.00004
|
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)
|
rs145267516
|
0.00004
|
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
|
rs763295904
|
0.00004
|
NM_017780.4(CHD7):c.*1644A>G
|
rs886063053
|
0.00004
|
NM_017780.4(CHD7):c.1663C>A (p.Gln555Lys)
|
rs200024753
|
0.00004
|
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)
|
rs746633621
|
0.00004
|
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln)
|
rs768481542
|
0.00004
|
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser)
|
rs587783439
|
0.00004
|
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn)
|
rs767513261
|
0.00004
|
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu)
|
rs1201043974
|
0.00004
|
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe)
|
rs369608927
|
0.00004
|
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg)
|
rs1481262806
|
0.00004
|
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)
|
rs753347128
|
0.00004
|
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val)
|
rs748578338
|
0.00004
|
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)
|
rs143796440
|
0.00004
|
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu)
|
rs773859400
|
0.00004
|
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr)
|
rs766776212
|
0.00004
|
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln)
|
rs375199214
|
0.00004
|
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys)
|
rs727503867
|
0.00004
|
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val)
|
rs1329751221
|
0.00004
|
NM_017780.4(CHD7):c.7164+3G>A
|
rs1181000692
|
0.00004
|
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
|
rs761410781
|
0.00004
|
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)
|
rs398124324
|
0.00004
|
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)
|
rs780161032
|
0.00004
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg)
|
rs912988587
|
0.00004
|
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)
|
rs747326285
|
0.00003
|
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)
|
rs121918341
|
0.00003
|
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln)
|
rs781381659
|
0.00003
|
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser)
|
rs779163443
|
0.00003
|
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp)
|
rs774777538
|
0.00003
|
NM_017780.4(CHD7):c.1677G>A (p.Ser559=)
|
rs568348314
|
0.00003
|
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)
|
rs776871277
|
0.00003
|
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)
|
rs779024959
|
0.00003
|
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=)
|
rs529369619
|
0.00003
|
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)
|
rs200441929
|
0.00003
|
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly)
|
rs369023995
|
0.00003
|
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg)
|
rs751565672
|
0.00002
|
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
|
rs753965043
|
0.00002
|
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu)
|
rs752774852
|
0.00002
|
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile)
|
rs752959572
|
0.00002
|
NM_012431.3(SEMA3E):c.1500+5G>A
|
rs201772961
|
0.00002
|
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His)
|
rs779454555
|
0.00002
|
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
|
rs538244011
|
0.00002
|
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr)
|
rs767621375
|
0.00002
|
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp)
|
rs773688938
|
0.00002
|
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val)
|
rs780025635
|
0.00002
|
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
|
rs775302619
|
0.00002
|
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His)
|
rs150833995
|
0.00002
|
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
|
rs762866887
|
0.00002
|
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu)
|
rs765180149
|
0.00002
|
NM_017780.4(CHD7):c.1813C>G (p.His605Asp)
|
rs534225918
|
0.00002
|
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg)
|
rs375905260
|
0.00002
|
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
|
rs1441258013
|
0.00002
|
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp)
|
rs371742009
|
0.00002
|
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys)
|
rs587783435
|
0.00002
|
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser)
|
rs886044146
|
0.00002
|
NM_017780.4(CHD7):c.3044T>C (p.Ile1015Thr)
|
rs1374888110
|
0.00002
|
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val)
|
rs1271767085
|
0.00002
|
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)
|
rs762669262
|
0.00002
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys)
|
rs764675280
|
0.00002
|
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu)
|
rs371385411
|
0.00002
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser)
|
rs1189776580
|
0.00002
|
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met)
|
rs1349507815
|
0.00002
|
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr)
|
rs374408098
|
0.00002
|
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met)
|
rs189926848
|
0.00002
|
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro)
|
rs375325395
|
0.00002
|
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala)
|
rs372546969
|
0.00002
|
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser)
|
rs748036782
|
0.00002
|
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp)
|
rs775888715
|
0.00002
|
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser)
|
rs764847747
|
0.00002
|
NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser)
|
rs1012221437
|
0.00002
|
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr)
|
rs1242867481
|
0.00002
|
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile)
|
rs749302988
|
0.00002
|
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln)
|
rs748722795
|
0.00001
|
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
|
rs1378507372
|
0.00001
|
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg)
|
rs200162096
|
0.00001
|
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
|
rs766917020
|
0.00001
|
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val)
|
rs1390797360
|
0.00001
|
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser)
|
rs778519947
|
0.00001
|
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala)
|
rs755186079
|
0.00001
|
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala)
|
rs765714534
|
0.00001
|
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp)
|
rs1788207145
|
0.00001
|
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile)
|
rs1327334624
|
0.00001
|
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp)
|
rs764562322
|
0.00001
|
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val)
|
rs145819479
|
0.00001
|
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
|
rs777818746
|
0.00001
|
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His)
|
rs1170846873
|
0.00001
|
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
|
rs1033262030
|
0.00001
|
NM_012431.3(SEMA3E):c.1667+3G>A
|
rs778403800
|
0.00001
|
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter)
|
rs1420638220
|
0.00001
|
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn)
|
rs761147897
|
0.00001
|
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)
|
rs1246755098
|
0.00001
|
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)
|
rs375536813
|
0.00001
|
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
|
rs768606535
|
0.00001
|
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)
|
rs371910815
|
0.00001
|
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala)
|
rs765517064
|
0.00001
|
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
|
rs759100269
|
0.00001
|
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
|
rs1789839857
|
0.00001
|
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=)
|
rs770979660
|
0.00001
|
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
|
rs1241693530
|
0.00001
|
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser)
|
rs1441322114
|
0.00001
|
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val)
|
rs765052488
|
0.00001
|
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg)
|
rs963545974
|
0.00001
|
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val)
|
rs745626807
|
0.00001
|
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
|
rs1429112884
|
0.00001
|
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
|
rs749567149
|
0.00001
|
NM_012431.3(SEMA3E):c.999-10T>C
|
rs371994521
|
0.00001
|
NM_012431.3(SEMA3E):c.999-3C>T
|
rs566304903
|
0.00001
|
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr)
|
rs747263275
|
0.00001
|
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser)
|
rs1554581580
|
0.00001
|
NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser)
|
rs1208556547
|
0.00001
|
NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala)
|
rs911422083
|
0.00001
|
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp)
|
rs547298242
|
0.00001
|
NM_017780.4(CHD7):c.1512A>G (p.Gln504=)
|
rs587783430
|
0.00001
|
NM_017780.4(CHD7):c.1622A>G (p.His541Arg)
|
rs1388338640
|
0.00001
|
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)
|
rs778361949
|
0.00001
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)
|
rs769625033
|
0.00001
|
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys)
|
rs764607908
|
0.00001
|
NM_017780.4(CHD7):c.1908G>A (p.Gly636=)
|
rs923306494
|
0.00001
|
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu)
|
rs1335682527
|
0.00001
|
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)
|
rs1373820202
|
0.00001
|
NM_017780.4(CHD7):c.202C>T (p.His68Tyr)
|
rs886063032
|
0.00001
|
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)
|
rs755898600
|
0.00001
|
NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp)
|
rs370267935
|
0.00001
|
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu)
|
rs1064794416
|
0.00001
|
NM_017780.4(CHD7):c.2377-3T>A
|
rs545931432
|
0.00001
|
NM_017780.4(CHD7):c.2613+4C>T
|
rs779615403
|
0.00001
|
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp)
|
rs772260091
|
0.00001
|
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser)
|
rs1224277360
|
0.00001
|
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg)
|
rs755233517
|
0.00001
|
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln)
|
rs1014640333
|
0.00001
|
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys)
|
rs775000989
|
0.00001
|
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu)
|
rs753887911
|
0.00001
|
NM_017780.4(CHD7):c.2836-5A>G
|
rs779518202
|
0.00001
|
NM_017780.4(CHD7):c.2853T>A (p.Asp951Glu)
|
rs1804067183
|
0.00001
|
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile)
|
rs1345463010
|
0.00001
|
NM_017780.4(CHD7):c.2956A>G (p.Met986Val)
|
rs764345519
|
0.00001
|
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys)
|
rs776900495
|
0.00001
|
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val)
|
rs1415116812
|
0.00001
|
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)
|
rs750785243
|
0.00001
|
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val)
|
rs767043440
|
0.00001
|
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys)
|
rs759929302
|
0.00001
|
NM_017780.4(CHD7):c.323C>A (p.Pro108His)
|
rs369818702
|
0.00001
|
NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys)
|
rs753233210
|
0.00001
|
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)
|
rs201769233
|
0.00001
|
NM_017780.4(CHD7):c.3523-3T>C
|
rs1804451088
|
0.00001
|
NM_017780.4(CHD7):c.3616A>G (p.Ile1206Val)
|
rs755429625
|
0.00001
|
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)
|
rs794727150
|
0.00001
|
NM_017780.4(CHD7):c.3776A>G (p.Asn1259Ser)
|
rs1239880284
|
0.00001
|
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln)
|
rs185150226
|
0.00001
|
NM_017780.4(CHD7):c.4328G>A (p.Ser1443Asn)
|
rs1333684435
|
0.00001
|
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys)
|
rs1009126876
|
0.00001
|
NM_017780.4(CHD7):c.4691T>C (p.Leu1564Pro)
|
rs1804991326
|
0.00001
|
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His)
|
rs766632082
|
0.00001
|
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu)
|
rs267606724
|
0.00001
|
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr)
|
rs375951527
|
0.00001
|
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr)
|
rs367722051
|
0.00001
|
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg)
|
rs755340969
|
0.00001
|
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His)
|
rs1249078741
|
0.00001
|
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys)
|
rs200964201
|
0.00001
|
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn)
|
rs748590759
|
0.00001
|
NM_017780.4(CHD7):c.5200C>T (p.His1734Tyr)
|
rs1805162137
|
0.00001
|
NM_017780.4(CHD7):c.5404+5G>A
|
rs1255859560
|
0.00001
|
NM_017780.4(CHD7):c.5438C>T (p.Pro1813Leu)
|
rs1317412492
|
0.00001
|
NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val)
|
rs1805407417
|
0.00001
|
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser)
|
rs1563657431
|
0.00001
|
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln)
|
rs372644599
|
0.00001
|
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu)
|
rs751847978
|
0.00001
|
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His)
|
rs767326758
|
0.00001
|
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys)
|
rs768950252
|
0.00001
|
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys)
|
rs535347450
|
0.00001
|
NM_017780.4(CHD7):c.5797G>A (p.Ala1933Thr)
|
rs1418642683
|
0.00001
|
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln)
|
rs753723769
|
0.00001
|
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln)
|
rs374040699
|
0.00001
|
NM_017780.4(CHD7):c.584G>A (p.Arg195His)
|
rs1250450695
|
0.00001
|
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly)
|
rs1805484724
|
0.00001
|
NM_017780.4(CHD7):c.5895-3C>T
|
rs757905650
|
0.00001
|
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala)
|
rs1805501956
|
0.00001
|
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys)
|
rs192260844
|
0.00001
|
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val)
|
rs752107963
|
0.00001
|
NM_017780.4(CHD7):c.631A>C (p.Ser211Arg)
|
rs936848734
|
0.00001
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
0.00001
|
NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val)
|
rs1064794182
|
0.00001
|
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg)
|
rs1805560223
|
0.00001
|
NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val)
|
rs1398262614
|
0.00001
|
NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys)
|
rs1227502557
|
0.00001
|
NM_017780.4(CHD7):c.6775+6G>T
|
rs773804340
|
0.00001
|
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val)
|
rs1047690374
|
0.00001
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
NM_017780.4(CHD7):c.685A>G (p.Thr229Ala)
|
rs767816305
|
0.00001
|
NM_017780.4(CHD7):c.6936+6C>T
|
rs762730711
|
0.00001
|
NM_017780.4(CHD7):c.6937-9T>G
|
rs1203336052
|
0.00001
|
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val)
|
rs755973702
|
0.00001
|
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His)
|
rs763555514
|
0.00001
|
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val)
|
rs142095932
|
0.00001
|
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys)
|
rs753446252
|
0.00001
|
NM_017780.4(CHD7):c.7183T>C (p.Ser2395Pro)
|
rs1285534131
|
0.00001
|
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp)
|
rs770959300
|
0.00001
|
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro)
|
rs769178123
|
0.00001
|
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His)
|
rs528722099
|
0.00001
|
NM_017780.4(CHD7):c.7655C>T (p.Pro2552Leu)
|
rs1805941132
|
0.00001
|
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu)
|
rs776711005
|
0.00001
|
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg)
|
rs774255090
|
0.00001
|
NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu)
|
rs1427104456
|
0.00001
|
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu)
|
rs1468230389
|
0.00001
|
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)
|
rs747082615
|
0.00001
|
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val)
|
rs1056534038
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg)
|
rs373124679
|
0.00001
|
NM_017780.4(CHD7):c.8452_8454dup (p.Asn2818dup)
|
rs1443281585
|
0.00001
|
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)
|
rs774843956
|
0.00001
|
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp)
|
rs970020036
|
0.00001
|
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)
|
rs762290343
|
0.00001
|
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro)
|
rs764758566
|
0.00001
|
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys)
|
rs374344463
|
0.00001
|
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
|
rs374004489
|
0.00001
|
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys)
|
rs1472626804
|
0.00001
|
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser)
|
rs777040556
|
0.00001
|
NM_018117.12(WDR11):c.2108G>A (p.Arg703Gln)
|
rs753696030
|
0.00001
|
NC_000007.13:g.(?_81331897)_(84751207_?)dup
|
|
|
NC_000007.13:g.(?_82996902)_(82997374_?)dup
|
|
|
NC_000007.13:g.(?_83047686)_(83047819_?)dup
|
|
|
NC_000007.13:g.(?_83047686)_(83119610_?)dup
|
|
|
NC_000007.13:g.(?_83277724)_(83277858_?)del
|
|
|
NC_000007.14:g.(?_83367566)_(83648562_?)del
|
|
|
NC_000008.10:g.(?_61121344)_(62626930_?)dup
|
|
|
NC_000008.10:g.(?_61653972)_(61655676_?)dup
|
|
|
NC_000008.11:g.(?_60741413)_(60865953_?)dup
|
|
|
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter)
|
rs965528935
|
|
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
|
|
|
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)
|
|
|
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr)
|
|
|
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg)
|
|
|
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr)
|
|
|
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)
|
|
|
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
|
rs373965521
|
|
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu)
|
|
|
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg)
|
|
|
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile)
|
rs1788253309
|
|
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln)
|
|
|
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg)
|
|
|
NM_012431.3(SEMA3E):c.115+4G>A
|
|
|
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg)
|
|
|
NM_012431.3(SEMA3E):c.116-10T>A
|
rs1562804630
|
|
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His)
|
rs2115617387
|
|
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser)
|
rs1027331615
|
|
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val)
|
|
|
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)
|
|
|
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly)
|
rs1584221582
|
|
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn)
|
rs769258588
|
|
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile)
|
rs2115616756
|
|
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr)
|
|
|
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
|
rs1180431769
|
|
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg)
|
|
|
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr)
|
|
|
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met)
|
|
|
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile)
|
|
|
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser)
|
|
|
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys)
|
rs769637710
|
|
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
|
rs781593656
|
|
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln)
|
|
|
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln)
|
|
|
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His)
|
|
|
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
|
rs149235216
|
|
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val)
|
rs1788206837
|
|
NM_012431.3(SEMA3E):c.1366+1G>T
|
|
|
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)
|
|
|
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro)
|
|
|
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys)
|
|
|
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu)
|
|
|
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
|
rs575712751
|
|
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile)
|
|
|
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met)
|
rs1788128084
|
|
NM_012431.3(SEMA3E):c.1458+1G>T
|
|
|
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala)
|
|
|
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala)
|
|
|
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp)
|
rs111300014
|
|
NM_012431.3(SEMA3E):c.1500+6T>C
|
|
|
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
|
rs767115234
|
|
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His)
|
|
|
NM_012431.3(SEMA3E):c.150T>C (p.His50=)
|
|
|
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg)
|
|
|
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile)
|
|
|
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)
|
|
|
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val)
|
|
|
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu)
|
|
|
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)
|
rs2115581814
|
|
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp)
|
|
|
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp)
|
|
|
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln)
|
|
|
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu)
|
rs1787895198
|
|
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro)
|
|
|
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
|
rs776901860
|
|
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val)
|
|
|
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val)
|
rs754158945
|
|
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser)
|
|
|
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly)
|
|
|
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
|
rs1166890439
|
|
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp)
|
|
|
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu)
|
|
|
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)
|
|
|
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)
|
|
|
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)
|
|
|
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly)
|
rs778141353
|
|
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)
|
|
|
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)
|
|
|
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)
|
|
|
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)
|
|
|
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)
|
|
|
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)
|
|
|
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)
|
|
|
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met)
|
rs2116892550
|
|
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)
|
|
|
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)
|
|
|
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser)
|
rs900496407
|
|
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln)
|
rs1421745476
|
|
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile)
|
rs1794698535
|
|
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)
|
|
|
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala)
|
rs2116892427
|
|
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)
|
|
|
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)
|
|
|
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)
|
|
|
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)
|
rs775000046
|
|
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys)
|
|
|
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)
|
|
|
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)
|
|
|
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met)
|
rs2116892082
|
|
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)
|
rs371960755
|
|
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)
|
rs879255398
|
|
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)
|
rs372156795
|
|
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)
|
rs752107396
|
|
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=)
|
rs2116891865
|
|
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)
|
|
|
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)
|
|
|
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
|
rs200621696
|
|
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)
|
|
|
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys)
|
rs750426538
|
|
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)
|
|
|
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu)
|
rs2116891755
|
|
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)
|
|
|
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly)
|
|
|
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)
|
|
|
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu)
|
|
|
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe)
|
|
|
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)
|
|
|
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)
|
rs2116891594
|
|
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)
|
|
|
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe)
|
rs2115976438
|
|
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala)
|
|
|
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg)
|
|
|
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala)
|
|
|
NM_012431.3(SEMA3E):c.277-13_277-2dup
|
|
|
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu)
|
|
|
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg)
|
|
|
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)
|
|
|
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)
|
|
|
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys)
|
rs1445294085
|
|
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile)
|
|
|
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val)
|
|
|
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
|
rs1429296509
|
|
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu)
|
|
|
NM_012431.3(SEMA3E):c.337-1G>C
|
rs1311561381
|
|
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr)
|
rs2115880845
|
|
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His)
|
rs1419581021
|
|
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp)
|
|
|
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
|
rs1487949587
|
|
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg)
|
|
|
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys)
|
|
|
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer)
|
|
|
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter)
|
|
|
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val)
|
|
|
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val)
|
|
|
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe)
|
|
|
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His)
|
rs1789759218
|
|
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
|
rs1789759019
|
|
NM_012431.3(SEMA3E):c.456+5G>A
|
|
|
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu)
|
|
|
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His)
|
|
|
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys)
|
|
|
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser)
|
|
|
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr)
|
rs1562773446
|
|
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val)
|
|
|
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val)
|
|
|
NM_012431.3(SEMA3E):c.550+5T>C
|
|
|
NM_012431.3(SEMA3E):c.550+6T>A
|
rs1788600213
|
|
NM_012431.3(SEMA3E):c.551-3T>G
|
rs1351334262
|
|
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)
|
|
|
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg)
|
|
|
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn)
|
|
|
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val)
|
|
|
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val)
|
rs2115654865
|
|
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
|
|
|
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His)
|
|
|
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His)
|
|
|
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr)
|
|
|
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)
|
|
|
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys)
|
|
|
NM_012431.3(SEMA3E):c.671-1G>C
|
|
|
NM_012431.3(SEMA3E):c.671-2A>G
|
|
|
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser)
|
|
|
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile)
|
|
|
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.733T>G (p.Tyr245Asp)
|
rs2115649014
|
|
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro)
|
|
|
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)
|
|
|
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)
|
rs773917768
|
|
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro)
|
|
|
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly)
|
rs2115648631
|
|
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser)
|
rs2115648620
|
|
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg)
|
|
|
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)
|
|
|
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln)
|
|
|
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser)
|
|
|
NM_012431.3(SEMA3E):c.813+6G>A
|
|
|
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser)
|
|
|
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met)
|
rs2115643274
|
|
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr)
|
|
|
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg)
|
|
|
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn)
|
|
|
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His)
|
|
|
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn)
|
rs1478459253
|
|
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
|
rs1788311567
|
|
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly)
|
|
|
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu)
|
rs763045418
|
|
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln)
|
|
|
NM_012431.3(SEMA3E):c.975dup (p.Phe326fs)
|
|
|
NM_012431.3(SEMA3E):c.988A>C (p.Asn330His)
|
|
|
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser)
|
rs1554320452
|
|
NM_017780.4(CHD7):c.*1663AG[1]
|
rs761460675
|
|
NM_017780.4(CHD7):c.*338del
|
rs886063045
|
|
NM_017780.4(CHD7):c.-465GCG[8]
|
rs71245513
|
|
NM_017780.4(CHD7):c.-466_-461del
|
rs886063025
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG
|
rs886063026
|
|
NM_017780.4(CHD7):c.-467_-466insGGCAGC
|
rs1554568913
|
|
NM_017780.4(CHD7):c.-490GGC[10]
|
rs886063023
|
|
NM_017780.4(CHD7):c.-490GGC[9]
|
rs886063023
|
|
NM_017780.4(CHD7):c.1004C>T (p.Thr335Ile)
|
|
|
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp)
|
rs886040979
|
|
NM_017780.4(CHD7):c.1049C>T (p.Ala350Val)
|
rs2150579918
|
|
NM_017780.4(CHD7):c.1054G>A (p.Gly352Arg)
|
|
|
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
|
|
|
NM_017780.4(CHD7):c.1069A>G (p.Ser357Gly)
|
rs1809095447
|
|
NM_017780.4(CHD7):c.1070G>A (p.Ser357Asn)
|
|
|
NM_017780.4(CHD7):c.1096C>T (p.Pro366Ser)
|
|
|
NM_017780.4(CHD7):c.109A>G (p.Met37Val)
|
rs1416709395
|
|
NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly)
|
rs1809098477
|
|
NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
|
|
|
NM_017780.4(CHD7):c.1120A>G (p.Asn374Asp)
|
|
|
NM_017780.4(CHD7):c.1126A>G (p.Met376Val)
|
rs1317332713
|
|
NM_017780.4(CHD7):c.1135C>A (p.Gln379Lys)
|
rs2150580201
|
|
NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg)
|
|
|
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu)
|
rs757050240
|
|
NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)
|
|
|
NM_017780.4(CHD7):c.1193C>A (p.Pro398His)
|
rs1586250714
|
|
NM_017780.4(CHD7):c.1197G>A (p.Met399Ile)
|
|
|
NM_017780.4(CHD7):c.1201G>A (p.Ala401Thr)
|
|
|
NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu)
|
|
|
NM_017780.4(CHD7):c.1221C>T (p.Gly407=)
|
rs1809105436
|
|
NM_017780.4(CHD7):c.1222A>G (p.Thr408Ala)
|
rs760121832
|
|
NM_017780.4(CHD7):c.1238T>G (p.Val413Gly)
|
rs1021434443
|
|
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser)
|
rs1313265725
|
|
NM_017780.4(CHD7):c.1271_1273del (p.Val424del)
|
rs1466152038
|
|
NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn)
|
|
|
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)
|
rs772369092
|
|
NM_017780.4(CHD7):c.1348A>G (p.Met450Val)
|
|
|
NM_017780.4(CHD7):c.1365G>A (p.Met455Ile)
|
|
|
NM_017780.4(CHD7):c.1390A>T (p.Met464Leu)
|
|
|
NM_017780.4(CHD7):c.1392G>T (p.Met464Ile)
|
rs780392912
|
|
NM_017780.4(CHD7):c.1394C>T (p.Ser465Phe)
|
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
|
|
|
NM_017780.4(CHD7):c.1429C>T (p.Pro477Ser)
|
rs774211699
|
|
NM_017780.4(CHD7):c.1439G>T (p.Cys480Phe)
|
|
|
NM_017780.4(CHD7):c.1444G>A (p.Gly482Ser)
|
|
|
NM_017780.4(CHD7):c.1445G>A (p.Gly482Asp)
|
rs911422083
|
|
NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro)
|
|
|
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn)
|
rs1383452692
|
|
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg)
|
rs1809129557
|
|
NM_017780.4(CHD7):c.1510C>G (p.Gln504Glu)
|
|
|
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg)
|
rs1809015487
|
|
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala)
|
rs748635676
|
|
NM_017780.4(CHD7):c.1537A>G (p.Thr513Ala)
|
rs957224882
|
|
NM_017780.4(CHD7):c.1542TCC[1] (p.Pro516del)
|
rs746859882
|
|
NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr)
|
rs1210884047
|
|
NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala)
|
|
|
NM_017780.4(CHD7):c.1543C>T (p.Pro515Ser)
|
rs1210884047
|
|
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
|
|
|
NM_017780.4(CHD7):c.1554G>C (p.Gln518His)
|
rs369284507
|
|
NM_017780.4(CHD7):c.1554G>T (p.Gln518His)
|
rs369284507
|
|
NM_017780.4(CHD7):c.1561C>G (p.Pro521Ala)
|
|
|
NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg)
|
rs2150581368
|
|
NM_017780.4(CHD7):c.1589_1597del (p.Pro530_Pro532del)
|
|
|
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu)
|
rs1809137397
|
|
NM_017780.4(CHD7):c.160C>G (p.Leu54Val)
|
|
|
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro)
|
rs1586252204
|
|
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu)
|
rs1402410171
|
|
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)
|
rs1231245538
|
|
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)
|
rs1694045574
|
|
NM_017780.4(CHD7):c.1717G>T (p.Val573Phe)
|
|
|
NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn)
|
|
|
NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg)
|
|
|
NM_017780.4(CHD7):c.1735C>A (p.Gln579Lys)
|
rs780953224
|
|
NM_017780.4(CHD7):c.1751A>T (p.Asp584Val)
|
rs1811198841
|
|
NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser)
|
|
|
NM_017780.4(CHD7):c.1774C>A (p.Gln592Lys)
|
rs2150669323
|
|
NM_017780.4(CHD7):c.1784A>T (p.Gln595Leu)
|
rs2150669341
|
|
NM_017780.4(CHD7):c.1791GAA[2] (p.Lys602del)
|
rs757119372
|
|
NM_017780.4(CHD7):c.1811A>G (p.Asn604Ser)
|
rs1811204503
|
|
NM_017780.4(CHD7):c.1835G>A (p.Ser612Asn)
|
rs1811206668
|
|
NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys)
|
|
|
NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser)
|
|
|
NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala)
|
|
|
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)
|
|
|
NM_017780.4(CHD7):c.1870G>A (p.Val624Ile)
|
|
|
NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys)
|
|
|
NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro)
|
|
|
NM_017780.4(CHD7):c.1903G>C (p.Asp635His)
|
|
|
NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu)
|
|
|
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)
|
rs1563595031
|
|
NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr)
|
|
|
NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn)
|
|
|
NM_017780.4(CHD7):c.1945G>A (p.Ala649Thr)
|
rs1811215623
|
|
NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu)
|
|
|
NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr)
|
|
|
NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala)
|
|
|
NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser)
|
|
|
NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg)
|
rs200536932
|
|
NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn)
|
|
|
NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu)
|
|
|
NM_017780.4(CHD7):c.2005A>G (p.Lys669Glu)
|
rs2150670002
|
|
NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn)
|
|
|
NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser)
|
|
|
NM_017780.4(CHD7):c.2017G>A (p.Ala673Thr)
|
|
|
NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)
|
|
|
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)
|
rs755898600
|
|
NM_017780.4(CHD7):c.2075C>G (p.Pro692Arg)
|
|
|
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu)
|
rs1809021019
|
|
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn)
|
rs1563595388
|
|
NM_017780.4(CHD7):c.209A>G (p.Asp70Gly)
|
|
|
NM_017780.4(CHD7):c.2117A>T (p.Glu706Val)
|
|
|
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile)
|
rs1563606900
|
|
NM_017780.4(CHD7):c.2198C>T (p.Pro733Leu)
|
|
|
NM_017780.4(CHD7):c.2220T>A (p.Asp740Glu)
|
|
|
NM_017780.4(CHD7):c.2233G>A (p.Val745Ile)
|
rs1811957623
|
|
NM_017780.4(CHD7):c.2239-16T>A
|
|
|
NM_017780.4(CHD7):c.2239-4T>G
|
|
|
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp)
|
rs1320501538
|
|
NM_017780.4(CHD7):c.2246G>A (p.Arg749Gln)
|
rs942764555
|
|
NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn)
|
|
|
NM_017780.4(CHD7):c.2272C>T (p.Arg758Cys)
|
|
|
NM_017780.4(CHD7):c.2308G>C (p.Glu770Gln)
|
rs2150708888
|
|
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del)
|
rs761153051
|
|
NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly)
|
|
|
NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly)
|
|
|
NM_017780.4(CHD7):c.2345C>G (p.Ser782Cys)
|
rs1812251287
|
|
NM_017780.4(CHD7):c.2347C>G (p.Pro783Ala)
|
rs373873996
|
|
NM_017780.4(CHD7):c.235A>G (p.Lys79Glu)
|
rs2150577685
|
|
NM_017780.4(CHD7):c.2376+4A>G
|
rs864622519
|
|
NM_017780.4(CHD7):c.2396G>T (p.Gly799Val)
|
rs1167408520
|
|
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
|
|
|
NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu)
|
|
|
NM_017780.4(CHD7):c.239T>G (p.Met80Arg)
|
|
|
NM_017780.4(CHD7):c.2423G>A (p.Ser808Asn)
|
|
|
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys)
|
rs2150711196
|
|
NM_017780.4(CHD7):c.2426G>C (p.Arg809Pro)
|
rs1313215076
|
|
NM_017780.4(CHD7):c.2443-8T>G
|
|
|
NM_017780.4(CHD7):c.2467A>G (p.Ile823Val)
|
|
|
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr)
|
rs1812629374
|
|
NM_017780.4(CHD7):c.247A>G (p.Met83Val)
|
rs1809024182
|
|
NM_017780.4(CHD7):c.2498+3A>G
|
rs2150723994
|
|
NM_017780.4(CHD7):c.2499-11T>A
|
rs2150738863
|
|
NM_017780.4(CHD7):c.2510A>G (p.His837Arg)
|
|
|
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg)
|
rs2150738931
|
|
NM_017780.4(CHD7):c.2558A>T (p.Gln853Leu)
|
|
|
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln)
|
rs1355349547
|
|
NM_017780.4(CHD7):c.2615T>C (p.Ile872Thr)
|
|
|
NM_017780.4(CHD7):c.2626C>A (p.Leu876Ile)
|
|
|
NM_017780.4(CHD7):c.2626C>T (p.Leu876Phe)
|
rs368156500
|
|
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly)
|
rs1015190633
|
|
NM_017780.4(CHD7):c.2672C>A (p.Ala891Glu)
|
|
|
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys)
|
rs768961973
|
|
NM_017780.4(CHD7):c.2681C>A (p.Thr894Lys)
|
|
|
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del)
|
rs1554597381
|
|
NM_017780.4(CHD7):c.2755_2756delinsCG (p.Glu919Arg)
|
|
|
NM_017780.4(CHD7):c.2775T>G (p.Asp925Glu)
|
rs749781431
|
|
NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu)
|
|
|
NM_017780.4(CHD7):c.278C>A (p.Thr93Asn)
|
rs1809027007
|
|
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile)
|
rs1809027007
|
|
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp)
|
rs1586389578
|
|
NM_017780.4(CHD7):c.2820_2822dup (p.Glu941_Thr942insGlu)
|
|
|
NM_017780.4(CHD7):c.2822A>C (p.Glu941Ala)
|
|
|
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser)
|
rs587783435
|
|
NM_017780.4(CHD7):c.2834T>C (p.Val945Ala)
|
|
|
NM_017780.4(CHD7):c.2849C>T (p.Ala950Val)
|
|
|
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val)
|
rs768456277
|
|
NM_017780.4(CHD7):c.2872A>C (p.Ser958Arg)
|
|
|
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser)
|
rs1554597489
|
|
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly)
|
rs1554597501
|
|
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del)
|
rs1804070388
|
|
NM_017780.4(CHD7):c.292C>T (p.Leu98Phe)
|
|
|
NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys)
|
|
|
NM_017780.4(CHD7):c.2957+6T>A
|
|
|
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser)
|
rs1554597672
|
|
NM_017780.4(CHD7):c.2991G>C (p.Leu997Phe)
|
rs1804093530
|
|
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr)
|
rs1809030198
|
|
NM_017780.4(CHD7):c.3001A>C (p.Ile1001Leu)
|
|
|
NM_017780.4(CHD7):c.3005A>T (p.Gln1002Leu)
|
rs1223377243
|
|
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys)
|
rs1804094552
|
|
NM_017780.4(CHD7):c.3036G>C (p.Leu1012Phe)
|
rs1804095307
|
|
NM_017780.4(CHD7):c.3041G>A (p.Gly1014Glu)
|
|
|
NM_017780.4(CHD7):c.305A>G (p.His102Arg)
|
|
|
NM_017780.4(CHD7):c.3061G>T (p.Val1021Leu)
|
|
|
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr)
|
rs886041167
|
|
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
|
|
|
NM_017780.4(CHD7):c.3126C>A (p.Asn1042Lys)
|
rs568551629
|
|
NM_017780.4(CHD7):c.312G>T (p.Gln104His)
|
|
|
NM_017780.4(CHD7):c.3130G>A (p.Val1044Ile)
|
rs2150750448
|
|
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)
|
rs750203389
|
|
NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe)
|
|
|
NM_017780.4(CHD7):c.3201+3A>T
|
rs587783437
|
|
NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro)
|
|
|
NM_017780.4(CHD7):c.322C>T (p.Pro108Ser)
|
|
|
NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr)
|
rs1804153900
|
|
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
|
rs1804154342
|
|
NM_017780.4(CHD7):c.3286A>C (p.Asn1096His)
|
|
|
NM_017780.4(CHD7):c.3325A>G (p.Arg1109Gly)
|
|
|
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg)
|
rs750214154
|
|
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)
|
rs1804159058
|
|
NM_017780.4(CHD7):c.3379-9T>A
|
rs1586401989
|
|
NM_017780.4(CHD7):c.337G>T (p.Val113Leu)
|
rs2150577960
|
|
NM_017780.4(CHD7):c.3395T>A (p.Leu1132Gln)
|
|
|
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)
|
rs1064793083
|
|
NM_017780.4(CHD7):c.3421G>A (p.Val1141Met)
|
|
|
NM_017780.4(CHD7):c.3464G>T (p.Arg1155Leu)
|
|
|
NM_017780.4(CHD7):c.3492A>G (p.Gln1164=)
|
rs1804368569
|
|
NM_017780.4(CHD7):c.3502G>A (p.Asp1168Asn)
|
rs2150761332
|
|
NM_017780.4(CHD7):c.3517G>A (p.Glu1173Lys)
|
rs2150761372
|
|
NM_017780.4(CHD7):c.3522+4T>G
|
|
|
NM_017780.4(CHD7):c.352_360del (p.Ser118_Gly120del)
|
|
|
NM_017780.4(CHD7):c.355G>C (p.Gly119Arg)
|
|
|
NM_017780.4(CHD7):c.3565C>G (p.Arg1189Gly)
|
|
|
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His)
|
rs1554599432
|
|
NM_017780.4(CHD7):c.3595G>T (p.Ala1199Ser)
|
|
|
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu)
|
rs1804453835
|
|
NM_017780.4(CHD7):c.3602A>G (p.Lys1201Arg)
|
|
|
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp)
|
rs1181372363
|
|
NM_017780.4(CHD7):c.3688T>G (p.Ser1230Ala)
|
|
|
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile)
|
rs775459114
|
|
NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr)
|
|
|
NM_017780.4(CHD7):c.3778+6G>A
|
|
|
NM_017780.4(CHD7):c.3821A>G (p.Asn1274Ser)
|
|
|
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn)
|
rs864622150
|
|
NM_017780.4(CHD7):c.3843G>T (p.Gln1281His)
|
rs745423641
|
|
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val)
|
rs1586416413
|
|
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)
|
rs373301291
|
|
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn)
|
rs1809038190
|
|
NM_017780.4(CHD7):c.3964C>G (p.Leu1322Val)
|
|
|
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln)
|
rs1060503186
|
|
NM_017780.4(CHD7):c.3990-10T>A
|
|
|
NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly)
|
|
|
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys)
|
rs1563644113
|
|
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr)
|
rs1804767147
|
|
NM_017780.4(CHD7):c.4073A>G (p.Asp1358Gly)
|
rs2150777199
|
|
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp)
|
rs1586417903
|
|
NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)
|
|
|
NM_017780.4(CHD7):c.4119T>G (p.Ile1373Met)
|
|
|
NM_017780.4(CHD7):c.4139C>A (p.Thr1380Asn)
|
|
|
NM_017780.4(CHD7):c.4160A>G (p.Asp1387Gly)
|
|
|
NM_017780.4(CHD7):c.4162T>C (p.Trp1388Arg)
|
|
|
NM_017780.4(CHD7):c.4186-3C>G
|
|
|
NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)
|
|
|
NM_017780.4(CHD7):c.421A>T (p.Ser141Cys)
|
|
|
NM_017780.4(CHD7):c.4261G>A (p.Glu1421Lys)
|
rs2150778664
|
|
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly)
|
rs1804802453
|
|
NM_017780.4(CHD7):c.4346C>T (p.Thr1449Ile)
|
|
|
NM_017780.4(CHD7):c.4353+4A>C
|
rs1804804691
|
|
NM_017780.4(CHD7):c.4354G>A (p.Val1452Ile)
|
|
|
NM_017780.4(CHD7):c.4385A>G (p.Asp1462Gly)
|
|
|
NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)
|
|
|
NM_017780.4(CHD7):c.4474C>G (p.Leu1492Val)
|
|
|
NM_017780.4(CHD7):c.4505C>T (p.Ser1502Leu)
|
|
|
NM_017780.4(CHD7):c.4527T>G (p.Phe1509Leu)
|
|
|
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys)
|
rs1554601592
|
|
NM_017780.4(CHD7):c.4613C>G (p.Ala1538Gly)
|
|
|
NM_017780.4(CHD7):c.462C>G (p.Asp154Glu)
|
|
|
NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)
|
|
|
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg)
|
rs1563648680
|
|
NM_017780.4(CHD7):c.4664C>A (p.Thr1555Asn)
|
|
|
NM_017780.4(CHD7):c.466A>C (p.Ile156Leu)
|
rs2150578286
|
|
NM_017780.4(CHD7):c.466A>G (p.Ile156Val)
|
|
|
NM_017780.4(CHD7):c.4671A>G (p.Arg1557=)
|
rs2150786548
|
|
NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)
|
|
|
NM_017780.4(CHD7):c.4698T>G (p.Ser1566Arg)
|
|
|
NM_017780.4(CHD7):c.4721T>C (p.Met1574Thr)
|
|
|
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu)
|
rs1434566381
|
|
NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)
|
|
|
NM_017780.4(CHD7):c.473C>A (p.Ala158Asp)
|
|
|
NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)
|
|
|
NM_017780.4(CHD7):c.4748C>T (p.Ser1583Phe)
|
|
|
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu)
|
rs587783444
|
|
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser)
|
rs2150786767
|
|
NM_017780.4(CHD7):c.4775G>A (p.Arg1592Gln)
|
rs1388750390
|
|
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly)
|
rs1057521078
|
|
NM_017780.4(CHD7):c.478T>A (p.Tyr160Asn)
|
|
|
NM_017780.4(CHD7):c.4796A>G (p.Gln1599Arg)
|
|
|
NM_017780.4(CHD7):c.4798G>A (p.Gly1600Ser)
|
rs2150786873
|
|
NM_017780.4(CHD7):c.4802A>T (p.Tyr1601Phe)
|
rs2150786892
|
|
NM_017780.4(CHD7):c.481_482delinsAG (p.Gln161Arg)
|
rs2150578323
|
|
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser)
|
rs886040993
|
|
NM_017780.4(CHD7):c.4850G>A (p.Gly1617Asp)
|
rs1804999304
|
|
NM_017780.4(CHD7):c.4854G>T (p.Trp1618Cys)
|
rs2150792862
|
|
NM_017780.4(CHD7):c.4859G>T (p.Arg1620Leu)
|
|
|
NM_017780.4(CHD7):c.4886G>A (p.Arg1629His)
|
|
|
NM_017780.4(CHD7):c.4886G>C (p.Arg1629Pro)
|
|
|
NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)
|
|
|
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
|
|
|
NM_017780.4(CHD7):c.4939C>A (p.Leu1647Met)
|
rs913573032
|
|
NM_017780.4(CHD7):c.4951C>G (p.Leu1651Val)
|
|
|
NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4])
|
rs758131874
|
|
NM_017780.4(CHD7):c.4964A>G (p.Lys1655Arg)
|
|
|
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln)
|
rs1805142705
|
|
NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu)
|
rs2150793254
|
|
NM_017780.4(CHD7):c.498_506del (p.167PQP[1])
|
|
|
NM_017780.4(CHD7):c.499_516del (p.Pro167_Pro172del)
|
|
|
NM_017780.4(CHD7):c.5005A>C (p.Thr1669Pro)
|
|
|
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg)
|
rs921201693
|
|
NM_017780.4(CHD7):c.5050+5G>T
|
|
|
NM_017780.4(CHD7):c.5062C>T (p.Pro1688Ser)
|
|
|
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala)
|
rs2150793920
|
|
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn)
|
rs1805156340
|
|
NM_017780.4(CHD7):c.5092G>A (p.Val1698Met)
|
|
|
NM_017780.4(CHD7):c.5114C>G (p.Pro1705Arg)
|
rs373986410
|
|
NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)
|
|
|
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg)
|
rs2150578491
|
|
NM_017780.4(CHD7):c.5136G>C (p.Trp1712Cys)
|
|
|
NM_017780.4(CHD7):c.520C>T (p.Pro174Ser)
|
|
|
NM_017780.4(CHD7):c.5210+5G>C
|
|
|
NM_017780.4(CHD7):c.5221C>T (p.Arg1741Cys)
|
|
|
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro)
|
rs1586437186
|
|
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His)
|
rs1805312207
|
|
NM_017780.4(CHD7):c.5265C>A (p.Asp1755Glu)
|
rs2150800547
|
|
NM_017780.4(CHD7):c.5301-3C>T
|
|
|
NM_017780.4(CHD7):c.530C>T (p.Pro177Leu)
|
|
|
NM_017780.4(CHD7):c.5327C>G (p.Pro1776Arg)
|
rs759486970
|
|
NM_017780.4(CHD7):c.5330T>G (p.Phe1777Cys)
|
|
|
NM_017780.4(CHD7):c.5366A>G (p.Glu1789Gly)
|
|
|
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn)
|
rs1554603283
|
|
NM_017780.4(CHD7):c.5384T>C (p.Leu1795Ser)
|
|
|
NM_017780.4(CHD7):c.5387T>C (p.Ile1796Thr)
|
|
|
NM_017780.4(CHD7):c.5393T>A (p.Val1798Glu)
|
rs1805341017
|
|
NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)
|
|
|
NM_017780.4(CHD7):c.539A>G (p.Gln180Arg)
|
|
|
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn)
|
rs1280305079
|
|
NM_017780.4(CHD7):c.5400A>T (p.Lys1800Asn)
|
|
|
NM_017780.4(CHD7):c.5401C>T (p.His1801Tyr)
|
rs1131692039
|
|
NM_017780.4(CHD7):c.5403T>C (p.His1801=)
|
|
|
NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp)
|
rs1805405695
|
|
NM_017780.4(CHD7):c.5414A>G (p.Lys1805Arg)
|
|
|
NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr)
|
rs1001632406
|
|
NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser)
|
|
|
NM_017780.4(CHD7):c.5452C>A (p.Leu1818Met)
|
|
|
NM_017780.4(CHD7):c.5464G>A (p.Gly1822Ser)
|
|
|
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
|
|
|
NM_017780.4(CHD7):c.5518G>C (p.Ala1840Pro)
|
|
|
NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser)
|
rs1563657571
|
|
NM_017780.4(CHD7):c.5533G>C (p.Gly1845Arg)
|
rs753347128
|
|
NM_017780.4(CHD7):c.5547T>G (p.Asp1849Glu)
|
|
|
NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His)
|
|
|
NM_017780.4(CHD7):c.5573A>T (p.Lys1858Ile)
|
|
|
NM_017780.4(CHD7):c.5575C>A (p.Pro1859Thr)
|
|
|
NM_017780.4(CHD7):c.5578A>G (p.Thr1860Ala)
|
|
|
NM_017780.4(CHD7):c.5585C>T (p.Thr1862Ile)
|
|
|
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln)
|
rs753437069
|
|
NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly)
|
rs2150805872
|
|
NM_017780.4(CHD7):c.5607+6A>G
|
|
|
NM_017780.4(CHD7):c.5608-10T>A
|
|
|
NM_017780.4(CHD7):c.560A>G (p.Gln187Arg)
|
|
|
NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp)
|
rs1403279129
|
|
NM_017780.4(CHD7):c.5638G>A (p.Glu1880Lys)
|
|
|
NM_017780.4(CHD7):c.5647A>G (p.Met1883Val)
|
|
|
NM_017780.4(CHD7):c.565A>T (p.Met189Leu)
|
rs1809055199
|
|
NM_017780.4(CHD7):c.5666G>A (p.Gly1889Asp)
|
rs1040512288
|
|
NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys)
|
|
|
NM_017780.4(CHD7):c.5707T>C (p.Trp1903Arg)
|
|
|
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
|
|
|
NM_017780.4(CHD7):c.5735G>T (p.Arg1912Leu)
|
|
|
NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro)
|
rs2150807679
|
|
NM_017780.4(CHD7):c.5743C>T (p.Arg1915Trp)
|
rs2150807703
|
|
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
|
|
|
NM_017780.4(CHD7):c.5784G>C (p.Gln1928His)
|
rs2150807812
|
|
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp)
|
rs1809004250
|
|
NM_017780.4(CHD7):c.5803A>C (p.Met1935Leu)
|
|
|
NM_017780.4(CHD7):c.5814C>A (p.Asp1938Glu)
|
rs1805481811
|
|
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly)
|
rs992024213
|
|
NM_017780.4(CHD7):c.5815C>T (p.Arg1939Trp)
|
|
|
NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro)
|
|
|
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly)
|
rs752539596
|
|
NM_017780.4(CHD7):c.5831C>G (p.Pro1944Arg)
|
|
|
NM_017780.4(CHD7):c.5842G>A (p.Val1948Met)
|
|
|
NM_017780.4(CHD7):c.5853_5855del (p.Glu1952del)
|
|
|
NM_017780.4(CHD7):c.5856A>C (p.Glu1952Asp)
|
rs755290171
|
|
NM_017780.4(CHD7):c.5869G>A (p.Ala1957Thr)
|
rs1586443930
|
|
NM_017780.4(CHD7):c.5888G>T (p.Arg1963Leu)
|
|
|
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
|
|
|
NM_017780.4(CHD7):c.5895-8T>G
|
rs1220156630
|
|
NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys)
|
|
|
NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)
|
|
|
NM_017780.4(CHD7):c.5939C>A (p.Thr1980Asn)
|
|
|
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala)
|
rs1805501302
|
|
NM_017780.4(CHD7):c.5952T>G (p.Ile1984Met)
|
|
|
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu)
|
rs1805502860
|
|
NM_017780.4(CHD7):c.6001G>A (p.Ala2001Thr)
|
|
|
NM_017780.4(CHD7):c.6026A>G (p.Glu2009Gly)
|
|
|
NM_017780.4(CHD7):c.6028A>G (p.Ser2010Gly)
|
|
|
NM_017780.4(CHD7):c.604C>A (p.Gln202Lys)
|
|
|
NM_017780.4(CHD7):c.6085C>A (p.Pro2029Thr)
|
rs1805506718
|
|
NM_017780.4(CHD7):c.6103+3A>G
|
|
|
NM_017780.4(CHD7):c.6103+9A>G
|
rs1805508072
|
|
NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)
|
|
|
NM_017780.4(CHD7):c.6160A>G (p.Thr2054Ala)
|
rs2150809564
|
|
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val)
|
rs1302545775
|
|
NM_017780.4(CHD7):c.6185G>A (p.Arg2062Gln)
|
|
|
NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val)
|
|
|
NM_017780.4(CHD7):c.6251G>A (p.Ser2084Asn)
|
|
|
NM_017780.4(CHD7):c.6305T>G (p.Val2102Gly)
|
|
|
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp)
|
rs794727555
|
|
NM_017780.4(CHD7):c.630G>C (p.Met210Ile)
|
rs560742342
|
|
NM_017780.4(CHD7):c.6321C>A (p.His2107Gln)
|
|
|
NM_017780.4(CHD7):c.6341A>G (p.Tyr2114Cys)
|
|
|
NM_017780.4(CHD7):c.6348C>G (p.Ile2116Met)
|
|
|
NM_017780.4(CHD7):c.6349C>G (p.Leu2117Val)
|
|
|
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly)
|
rs587783452
|
|
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
|
|
|
NM_017780.4(CHD7):c.636G>T (p.Gln212His)
|
|
|
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr)
|
rs1162346018
|
|
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu)
|
rs1563660814
|
|
NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)
|
|
|
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
|
|
|
NM_017780.4(CHD7):c.6433C>T (p.Pro2145Ser)
|
|
|
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly)
|
rs966839733
|
|
NM_017780.4(CHD7):c.6450T>A (p.Phe2150Leu)
|
|
|
NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)
|
|
|
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu)
|
rs1805544418
|
|
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser)
|
rs1805544569
|
|
NM_017780.4(CHD7):c.6485T>G (p.Ile2162Ser)
|
|
|
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly)
|
rs1805551737
|
|
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met)
|
rs749435288
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
NM_017780.4(CHD7):c.6565G>A (p.Gly2189Ser)
|
|
|
NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg)
|
rs747357928
|
|
NM_017780.4(CHD7):c.6603G>C (p.Lys2201Asn)
|
|
|
NM_017780.4(CHD7):c.6615G>C (p.Gln2205His)
|
|
|
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp)
|
rs979421697
|
|
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp)
|
rs1398262614
|
|
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
|
|
|
NM_017780.4(CHD7):c.665A>C (p.Gln222Pro)
|
|
|
NM_017780.4(CHD7):c.6704A>C (p.Lys2235Thr)
|
|
|
NM_017780.4(CHD7):c.6710C>A (p.Ser2237Tyr)
|
|
|
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser)
|
rs1809061303
|
|
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu)
|
rs1805568530
|
|
NM_017780.4(CHD7):c.6731A>G (p.Lys2244Arg)
|
|
|
NM_017780.4(CHD7):c.6734T>A (p.Leu2245Gln)
|
rs2150811434
|
|
NM_017780.4(CHD7):c.6734T>C (p.Leu2245Pro)
|
|
|
NM_017780.4(CHD7):c.6752C>T (p.Ser2251Leu)
|
|
|
NM_017780.4(CHD7):c.6758A>G (p.Glu2253Gly)
|
rs1805571750
|
|
NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val)
|
|
|
NM_017780.4(CHD7):c.6770C>T (p.Pro2257Leu)
|
rs2150811546
|
|
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
|
|
|
NM_017780.4(CHD7):c.677T>A (p.Phe226Tyr)
|
|
|
NM_017780.4(CHD7):c.6784G>C (p.Val2262Leu)
|
|
|
NM_017780.4(CHD7):c.6791G>C (p.Arg2264Thr)
|
|
|
NM_017780.4(CHD7):c.6821C>T (p.Ala2274Val)
|
|
|
NM_017780.4(CHD7):c.6826A>T (p.Met2276Leu)
|
|
|
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)
|
|
|
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly)
|
rs587783454
|
|
NM_017780.4(CHD7):c.6865A>G (p.Met2289Val)
|
|
|
NM_017780.4(CHD7):c.6880C>A (p.Pro2294Thr)
|
rs767696409
|
|
NM_017780.4(CHD7):c.6892C>G (p.Gln2298Glu)
|
rs1057518891
|
|
NM_017780.4(CHD7):c.6894G>C (p.Gln2298His)
|
|
|
NM_017780.4(CHD7):c.6898C>A (p.Leu2300Ile)
|
|
|
NM_017780.4(CHD7):c.6908G>C (p.Arg2303Thr)
|
|
|
NM_017780.4(CHD7):c.692G>C (p.Gly231Ala)
|
|
|
NM_017780.4(CHD7):c.6935A>G (p.Lys2312Arg)
|
rs2150813712
|
|
NM_017780.4(CHD7):c.6938A>G (p.Asp2313Gly)
|
rs1805682626
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly)
|
rs1427557686
|
|
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
|
|
|
NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)
|
|
|
NM_017780.4(CHD7):c.6996G>T (p.Trp2332Cys)
|
rs2129642460
|
|
NM_017780.4(CHD7):c.7007G>A (p.Arg2336Lys)
|
rs2129642540
|
|
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val)
|
rs1184188163
|
|
NM_017780.4(CHD7):c.7015A>T (p.Met2339Leu)
|
rs1184188163
|
|
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
|
rs754527047
|
|
NM_017780.4(CHD7):c.7048A>G (p.Thr2350Ala)
|
|
|
NM_017780.4(CHD7):c.7065C>G (p.Asp2355Glu)
|
rs2129643081
|
|
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
|
|
|
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)
|
rs541818422
|
|
NM_017780.4(CHD7):c.7097_7098delinsAT (p.Leu2366His)
|
|
|
NM_017780.4(CHD7):c.709C>T (p.His237Tyr)
|
|
|
NM_017780.4(CHD7):c.70C>T (p.Leu24Phe)
|
|
|
NM_017780.4(CHD7):c.7107C>A (p.Val2369=)
|
rs773674773
|
|
NM_017780.4(CHD7):c.7109G>T (p.Gly2370Val)
|
rs531223140
|
|
NM_017780.4(CHD7):c.7144A>G (p.Thr2382Ala)
|
|
|
NM_017780.4(CHD7):c.7157T>G (p.Leu2386Trp)
|
rs2129644202
|
|
NM_017780.4(CHD7):c.7165-3T>C
|
|
|
NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe)
|
rs1168283468
|
|
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys)
|
|
|
NM_017780.4(CHD7):c.719A>G (p.Gln240Arg)
|
rs2150579002
|
|
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del)
|
rs374380640
|
|
NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp)
|
rs1805714852
|
|
NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile)
|
|
|
NM_017780.4(CHD7):c.7240G>A (p.Ala2414Thr)
|
|
|
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe)
|
rs1805719418
|
|
NM_017780.4(CHD7):c.7250G>A (p.Arg2417Lys)
|
rs776169011
|
|
NM_017780.4(CHD7):c.7250G>C (p.Arg2417Thr)
|
|
|
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser)
|
rs1805721790
|
|
NM_017780.4(CHD7):c.7269G>A (p.Met2423Ile)
|
rs2129648356
|
|
NM_017780.4(CHD7):c.7278G>C (p.Gln2426His)
|
|
|
NM_017780.4(CHD7):c.7307A>G (p.Asn2436Ser)
|
|
|
NM_017780.4(CHD7):c.7308T>A (p.Asn2436Lys)
|
|
|
NM_017780.4(CHD7):c.7310G>A (p.Gly2437Glu)
|
|
|
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)
|
rs1060503188
|
|
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly)
|
rs2129649399
|
|
NM_017780.4(CHD7):c.7338G>T (p.Lys2446Asn)
|
|
|
NM_017780.4(CHD7):c.7391A>G (p.Lys2464Arg)
|
|
|
NM_017780.4(CHD7):c.7394T>G (p.Phe2465Cys)
|
|
|
NM_017780.4(CHD7):c.7402C>T (p.Pro2468Ser)
|
|
|
NM_017780.4(CHD7):c.7434T>G (p.Phe2478Leu)
|
rs2129651052
|
|
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)
|
|
|
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro)
|
rs1319276265
|
|
NM_017780.4(CHD7):c.746T>C (p.Leu249Ser)
|
|
|
NM_017780.4(CHD7):c.7490T>C (p.Leu2497Pro)
|
|
|
NM_017780.4(CHD7):c.7499G>T (p.Gly2500Val)
|
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln)
|
rs1805738026
|
|
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser)
|
rs1805738363
|
|
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly)
|
rs1805740102
|
|
NM_017780.4(CHD7):c.7601T>C (p.Leu2534Ser)
|
|
|
NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)
|
|
|
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu)
|
rs1554581354
|
|
NM_017780.4(CHD7):c.7616C>T (p.Ala2539Val)
|
|
|
NM_017780.4(CHD7):c.7631C>T (p.Ala2544Val)
|
|
|
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser)
|
rs1805939500
|
|
NM_017780.4(CHD7):c.7657C>T (p.Pro2553Ser)
|
|
|
NM_017780.4(CHD7):c.767T>A (p.Phe256Tyr)
|
rs2150579155
|
|
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu)
|
rs1046787337
|
|
NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)
|
|
|
NM_017780.4(CHD7):c.7706T>C (p.Ile2569Thr)
|
|
|
NM_017780.4(CHD7):c.7711G>A (p.Val2571Ile)
|
rs2129704568
|
|
NM_017780.4(CHD7):c.7717A>G (p.Asn2573Asp)
|
|
|
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu)
|
rs1408626113
|
|
NM_017780.4(CHD7):c.778C>A (p.Pro260Thr)
|
|
|
NM_017780.4(CHD7):c.7795C>T (p.Pro2599Ser)
|
rs1805948281
|
|
NM_017780.4(CHD7):c.7798A>G (p.Thr2600Ala)
|
|
|
NM_017780.4(CHD7):c.7804A>G (p.Thr2602Ala)
|
|
|
NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile)
|
|
|
NM_017780.4(CHD7):c.7810G>C (p.Asp2604His)
|
|
|
NM_017780.4(CHD7):c.7830+5G>A
|
|
|
NM_017780.4(CHD7):c.7834A>C (p.Asn2612His)
|
|
|
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala)
|
rs1586462216
|
|
NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro)
|
|
|
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn)
|
rs1586462281
|
|
NM_017780.4(CHD7):c.7900A>G (p.Asn2634Asp)
|
|
|
NM_017780.4(CHD7):c.7925C>T (p.Thr2642Ile)
|
|
|
NM_017780.4(CHD7):c.7938G>C (p.Arg2646Ser)
|
|
|
NM_017780.4(CHD7):c.7940T>C (p.Val2647Ala)
|
|
|
NM_017780.4(CHD7):c.7971+6C>G
|
rs769103057
|
|
NM_017780.4(CHD7):c.7971+6C>T
|
rs769103057
|
|
NM_017780.4(CHD7):c.7996A>G (p.Met2666Val)
|
rs2129725268
|
|
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys)
|
rs1586462940
|
|
NM_017780.4(CHD7):c.8045C>A (p.Ala2682Asp)
|
|
|
NM_017780.4(CHD7):c.8047C>G (p.Pro2683Ala)
|
|
|
NM_017780.4(CHD7):c.8056A>G (p.Thr2686Ala)
|
|
|
NM_017780.4(CHD7):c.8076+6T>C
|
|
|
NM_017780.4(CHD7):c.8077G>A (p.Gly2693Ser)
|
rs1563673201
|
|
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg)
|
rs1563673201
|
|
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys)
|
rs1373315351
|
|
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His)
|
rs1563673267
|
|
NM_017780.4(CHD7):c.8105G>T (p.Arg2702Leu)
|
|
|
NM_017780.4(CHD7):c.8126T>C (p.Val2709Ala)
|
rs1806175791
|
|
NM_017780.4(CHD7):c.8131G>A (p.Gly2711Arg)
|
|
|
NM_017780.4(CHD7):c.8131G>C (p.Gly2711Arg)
|
rs1418830724
|
|
NM_017780.4(CHD7):c.8138G>A (p.Gly2713Glu)
|
|
|
NM_017780.4(CHD7):c.813C>G (p.His271Gln)
|
|
|
NM_017780.4(CHD7):c.8146A>G (p.Arg2716Gly)
|
|
|
NM_017780.4(CHD7):c.8164A>C (p.Lys2722Gln)
|
rs1586467143
|
|
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu)
|
rs1586467143
|
|
NM_017780.4(CHD7):c.8173A>G (p.Ile2725Val)
|
rs113877656
|
|
NM_017780.4(CHD7):c.8176G>T (p.Ala2726Ser)
|
|
|
NM_017780.4(CHD7):c.8177C>T (p.Ala2726Val)
|
|
|
NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)
|
|
|
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser)
|
rs757725468
|
|
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)
|
|
|
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr)
|
rs1806179701
|
|
NM_017780.4(CHD7):c.8209T>A (p.Ser2737Thr)
|
|
|
NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg)
|
|
|
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser)
|
rs1806181643
|
|
NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)
|
|
|
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser)
|
rs1586467380
|
|
NM_017780.4(CHD7):c.8244C>G (p.Ser2748Arg)
|
|
|
NM_017780.4(CHD7):c.8255G>T (p.Gly2752Val)
|
|
|
NM_017780.4(CHD7):c.8262C>G (p.Asp2754Glu)
|
rs1369699481
|
|
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1])
|
rs747665912
|
|
NM_017780.4(CHD7):c.8278AATCTCCAG[3] (p.2760NLQ[3])
|
rs747665912
|
|
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His)
|
rs758898311
|
|
NM_017780.4(CHD7):c.829C>G (p.Pro277Ala)
|
|
|
NM_017780.4(CHD7):c.8304G>C (p.Gln2768His)
|
|
|
NM_017780.4(CHD7):c.8314C>T (p.Leu2772Phe)
|
|
|
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser)
|
rs773045619
|
|
NM_017780.4(CHD7):c.8329C>A (p.Pro2777Thr)
|
|
|
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg)
|
rs1586467620
|
|
NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)
|
|
|
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp)
|
rs1809007164
|
|
NM_017780.4(CHD7):c.8407A>G (p.Met2803Val)
|
rs2129762926
|
|
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val)
|
rs770781688
|
|
NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys)
|
rs759567393
|
|
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr)
|
rs368224943
|
|
NM_017780.4(CHD7):c.8467G>T (p.Ala2823Ser)
|
|
|
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
|
|
|
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro)
|
rs1373512004
|
|
NM_017780.4(CHD7):c.847G>A (p.Gly283Arg)
|
|
|
NM_017780.4(CHD7):c.8482A>G (p.Thr2828Ala)
|
|
|
NM_017780.4(CHD7):c.8510A>G (p.Glu2837Gly)
|
|
|
NM_017780.4(CHD7):c.8538_8549dup (p.Lys2846_Glu2849dup)
|
rs2129765422
|
|
NM_017780.4(CHD7):c.853G>A (p.Val285Ile)
|
|
|
NM_017780.4(CHD7):c.854T>C (p.Val285Ala)
|
|
|
NM_017780.4(CHD7):c.8550T>G (p.Asn2850Lys)
|
|
|
NM_017780.4(CHD7):c.8579G>A (p.Ser2860Asn)
|
rs2129766206
|
|
NM_017780.4(CHD7):c.8599G>A (p.Ala2867Thr)
|
rs2129766536
|
|
NM_017780.4(CHD7):c.8615G>C (p.Gly2872Ala)
|
|
|
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys)
|
rs1554581399
|
|
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=)
|
rs374937585
|
|
NM_017780.4(CHD7):c.8645G>T (p.Gly2882Val)
|
rs2129767368
|
|
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile)
|
rs202039728
|
|
NM_017780.4(CHD7):c.868C>G (p.Leu290Val)
|
|
|
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln)
|
rs780993039
|
|
NM_017780.4(CHD7):c.8713C>T (p.Pro2905Ser)
|
|
|
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg)
|
rs1586468892
|
|
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val)
|
rs1563674763
|
|
NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg)
|
rs1806214950
|
|
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser)
|
rs1586469053
|
|
NM_017780.4(CHD7):c.878G>A (p.Ser293Asn)
|
rs1809079469
|
|
NM_017780.4(CHD7):c.8791G>C (p.Val2931Leu)
|
|
|
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly)
|
rs1024326558
|
|
NM_017780.4(CHD7):c.8818G>A (p.Asp2940Asn)
|
|
|
NM_017780.4(CHD7):c.881C>G (p.Ser294Cys)
|
|
|
NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu)
|
|
|
NM_017780.4(CHD7):c.8836C>A (p.Pro2946Thr)
|
|
|
NM_017780.4(CHD7):c.8837C>A (p.Pro2946His)
|
|
|
NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
|
|
|
NM_017780.4(CHD7):c.8846A>T (p.Asp2949Val)
|
|
|
NM_017780.4(CHD7):c.8873C>T (p.Ala2958Val)
|
rs2129771571
|
|
NM_017780.4(CHD7):c.8875G>A (p.Glu2959Lys)
|
|
|
NM_017780.4(CHD7):c.8879_8881dup (p.Glu2960_Ser2961insLys)
|
|
|
NM_017780.4(CHD7):c.892A>C (p.Thr298Pro)
|
|
|
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)
|
rs886063033
|
|
NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp)
|
|
|
NM_017780.4(CHD7):c.8933G>C (p.Gly2978Ala)
|
|
|
NM_017780.4(CHD7):c.8933G>T (p.Gly2978Val)
|
|
|
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
|
|
|
NM_017780.4(CHD7):c.8953G>T (p.Asp2985Tyr)
|
|
|
NM_017780.4(CHD7):c.8957G>A (p.Gly2986Glu)
|
|
|
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val)
|
rs374004489
|
|
NM_017780.4(CHD7):c.895G>T (p.Val299Phe)
|
|
|
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del)
|
rs771806027
|
|
NM_017780.4(CHD7):c.8984A>G (p.Asn2995Ser)
|
|
|
NM_017780.4(CHD7):c.901T>C (p.Ser301Pro)
|
|
|
NM_017780.4(CHD7):c.902C>T (p.Ser301Phe)
|
|
|
NM_017780.4(CHD7):c.926A>G (p.Gln309Arg)
|
|
|
NM_017780.4(CHD7):c.935G>C (p.Arg312Pro)
|
|
|
NM_017780.4(CHD7):c.940C>A (p.Pro314Thr)
|
|
|
NM_017780.4(CHD7):c.944A>G (p.Tyr315Cys)
|
|
|
NM_017780.4(CHD7):c.967G>A (p.Val323Ile)
|
|
|
NM_017780.4(CHD7):c.973A>C (p.Asn325His)
|
rs1563561089
|
|
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu)
|
rs1809088428
|
|
NM_017780.4(CHD7):c.982A>T (p.Met328Leu)
|
rs747112804
|
|
NM_017780.4(CHD7):c.988C>A (p.Gln330Lys)
|
|
|