NM_017780.4(CHD7):c.2238+39G>A
|
rs4540437
|
0.83608
|
NM_017780.4(CHD7):c.2614-45A>G
|
rs6471902
|
0.79408
|
NM_017780.4(CHD7):c.4533+46A>G
|
rs7844902
|
0.77651
|
NM_017780.4(CHD7):c.2376+43_2376+48dup
|
rs5891777
|
0.76905
|
NM_017780.4(CHD7):c.1665+34G>A
|
rs7836586
|
0.76770
|
NM_017780.4(CHD7):c.*1728T>C
|
rs2280917
|
0.69116
|
NM_017780.4(CHD7):c.*1797C>T
|
rs6985168
|
0.45413
|
NM_017780.4(CHD7):c.*1189A>C
|
rs4738834
|
0.45310
|
NM_017780.4(CHD7):c.*1444T>G
|
rs4237040
|
0.45155
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
NM_017780.4(CHD7):c.-466A>G
|
rs71513464
|
0.12438
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_017780.4(CHD7):c.*1579A>G
|
rs10100774
|
0.03830
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_017780.4(CHD7):c.*1502G>A
|
rs181017286
|
0.00566
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00255
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
NM_017780.4(CHD7):c.*1495C>T
|
rs139790301
|
0.00207
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
NM_017780.4(CHD7):c.-230G>C
|
rs886063030
|
0.00124
|
NM_017780.4(CHD7):c.*1116C>G
|
rs45504193
|
0.00117
|
NM_017780.4(CHD7):c.*1143A>G
|
rs45573835
|
0.00117
|
NM_017780.4(CHD7):c.*965G>A
|
rs575515698
|
0.00108
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_017780.4(CHD7):c.*1123G>A
|
rs77847411
|
0.00094
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
NM_017780.4(CHD7):c.*251T>C
|
rs529121143
|
0.00068
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_017780.4(CHD7):c.5300+8C>T
|
rs151322460
|
0.00055
|
NM_017780.4(CHD7):c.*96C>A
|
rs193154029
|
0.00052
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_017780.4(CHD7):c.444G>A (p.Arg148=)
|
rs376455384
|
0.00028
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_017780.4(CHD7):c.*527C>T
|
rs1011990961
|
0.00024
|
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
|
rs201470035
|
0.00024
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)
|
rs187751757
|
0.00019
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_017780.4(CHD7):c.4645-9T>C
|
rs766575601
|
0.00014
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
NM_017780.4(CHD7):c.*1120C>T
|
rs572548208
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_017780.4(CHD7):c.1203A>G (p.Ala401=)
|
rs147960212
|
0.00012
|
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=)
|
rs370471177
|
0.00011
|
NM_017780.4(CHD7):c.*1577C>G
|
rs886063052
|
0.00010
|
NM_017780.4(CHD7):c.*1788C>T
|
rs527801100
|
0.00010
|
NM_017780.4(CHD7):c.-249C>G
|
rs886063029
|
0.00010
|
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=)
|
rs148517660
|
0.00009
|
NM_017780.4(CHD7):c.*644A>T
|
rs779551569
|
0.00008
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
NM_017780.4(CHD7):c.2613+5G>A
|
rs202143667
|
0.00008
|
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn)
|
rs747846723
|
0.00008
|
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=)
|
rs375969680
|
0.00008
|
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu)
|
rs3750308
|
0.00008
|
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met)
|
rs370271088
|
0.00008
|
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile)
|
rs201514840
|
0.00007
|
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=)
|
rs376063472
|
0.00007
|
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=)
|
rs767368987
|
0.00007
|
NM_017780.4(CHD7):c.-25T>A
|
rs780813907
|
0.00006
|
NM_017780.4(CHD7):c.-327C>G
|
rs531113504
|
0.00006
|
NM_017780.4(CHD7):c.1410A>G (p.Glu470=)
|
rs368648424
|
0.00006
|
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)
|
rs377662366
|
0.00006
|
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His)
|
rs767259131
|
0.00006
|
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=)
|
rs368919638
|
0.00006
|
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
|
rs777303307
|
0.00006
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys)
|
rs777753993
|
0.00005
|
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=)
|
rs757280832
|
0.00005
|
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met)
|
rs372078650
|
0.00005
|
NM_017780.4(CHD7):c.*659T>C
|
rs886063048
|
0.00004
|
NM_017780.4(CHD7):c.1029C>T (p.Ser343=)
|
rs570815501
|
0.00004
|
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile)
|
rs199919181
|
0.00004
|
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=)
|
rs373942842
|
0.00004
|
NM_017780.4(CHD7):c.2238+12A>G
|
rs752854030
|
0.00004
|
NM_017780.4(CHD7):c.2498+12G>T
|
rs557099951
|
0.00004
|
NM_017780.4(CHD7):c.2820G>A (p.Pro940=)
|
rs539734440
|
0.00004
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)
|
rs368609862
|
0.00004
|
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=)
|
rs376806146
|
0.00004
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe)
|
rs561398606
|
0.00004
|
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=)
|
rs757868659
|
0.00004
|
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
|
rs761410781
|
0.00004
|
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)
|
rs761409446
|
0.00004
|
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=)
|
rs199565939
|
0.00004
|
NM_017780.4(CHD7):c.*2057G>A
|
rs116952338
|
0.00003
|
NM_017780.4(CHD7):c.*622G>A
|
rs886063047
|
0.00003
|
NM_017780.4(CHD7):c.8364T>C (p.Asp2788=)
|
rs886063041
|
0.00003
|
NM_017780.4(CHD7):c.*108A>G
|
rs1412783180
|
0.00002
|
NM_017780.4(CHD7):c.*1628C>T
|
rs956785378
|
0.00002
|
NM_017780.4(CHD7):c.*1679G>A
|
rs1484512188
|
0.00002
|
NM_017780.4(CHD7):c.*505C>T
|
rs886063046
|
0.00002
|
NM_017780.4(CHD7):c.*839A>G
|
rs886063050
|
0.00002
|
NM_017780.4(CHD7):c.-70A>G
|
rs1452184371
|
0.00002
|
NM_017780.4(CHD7):c.208G>C (p.Asp70His)
|
rs759847780
|
0.00002
|
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile)
|
rs552946889
|
0.00002
|
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
|
rs1441258013
|
0.00002
|
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala)
|
rs370194460
|
0.00002
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp)
|
rs886063038
|
0.00002
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
0.00002
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala)
|
rs372546969
|
0.00002
|
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu)
|
rs371930390
|
0.00002
|
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser)
|
rs748655442
|
0.00002
|
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile)
|
rs749302988
|
0.00002
|
NM_017780.4(CHD7):c.*1737T>C
|
rs1806282500
|
0.00001
|
NM_017780.4(CHD7):c.*1804T>G
|
rs973384265
|
0.00001
|
NM_017780.4(CHD7):c.*731G>A
|
rs886063049
|
0.00001
|
NM_017780.4(CHD7):c.1566C>T (p.Gly522=)
|
rs759347960
|
0.00001
|
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)
|
rs778361949
|
0.00001
|
NM_017780.4(CHD7):c.164A>G (p.His55Arg)
|
rs121434345
|
0.00001
|
NM_017780.4(CHD7):c.202C>T (p.His68Tyr)
|
rs886063032
|
0.00001
|
NM_017780.4(CHD7):c.2355C>T (p.Asn785=)
|
rs376696075
|
0.00001
|
NM_017780.4(CHD7):c.2613+4C>T
|
rs779615403
|
0.00001
|
NM_017780.4(CHD7):c.308C>T (p.Ser103Leu)
|
rs1242372187
|
0.00001
|
NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys)
|
rs753233210
|
0.00001
|
NM_017780.4(CHD7):c.4644+14C>T
|
rs1368983693
|
0.00001
|
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys)
|
rs200964201
|
0.00001
|
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)
|
rs780597592
|
0.00001
|
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys)
|
rs768950252
|
0.00001
|
NM_017780.4(CHD7):c.5915C>G (p.Ala1972Gly)
|
rs1013310877
|
0.00001
|
NM_017780.4(CHD7):c.6775+6G>T
|
rs773804340
|
0.00001
|
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn)
|
rs756347672
|
0.00001
|
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu)
|
rs768014298
|
0.00001
|
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
|
|
|
NC_000008.11:g.60867891_60867903delins60868515_60868872
|
|
|
NM_017780.4(CHD7):c.*1374C>A
|
rs1351282001
|
|
NM_017780.4(CHD7):c.*1469G>T
|
rs886063051
|
|
NM_017780.4(CHD7):c.*166T>C
|
rs1045828796
|
|
NM_017780.4(CHD7):c.*1698T>G
|
rs544498983
|
|
NM_017780.4(CHD7):c.*1832A>G
|
rs886063055
|
|
NM_017780.4(CHD7):c.*190A>G
|
rs1032110611
|
|
NM_017780.4(CHD7):c.*19C>A
|
rs371417969
|
|
NM_017780.4(CHD7):c.*21A>G
|
rs1279774618
|
|
NM_017780.4(CHD7):c.*293G>C
|
rs886063044
|
|
NM_017780.4(CHD7):c.*489C>G
|
rs1806244672
|
|
NM_017780.4(CHD7):c.*542C>T
|
rs565543543
|
|
NM_017780.4(CHD7):c.-102G>T
|
rs1808989933
|
|
NM_017780.4(CHD7):c.-181C>G
|
rs531989939
|
|
NM_017780.4(CHD7):c.-298C>A
|
rs886063028
|
|
NM_017780.4(CHD7):c.-380C>T
|
rs113958504
|
|
NM_017780.4(CHD7):c.-469G>A
|
rs868087197
|
|
NM_017780.4(CHD7):c.-472G>A
|
rs865775134
|
|
NM_017780.4(CHD7):c.-481G>A
|
rs886063024
|
|
NM_017780.4(CHD7):c.13G>C (p.Gly5Arg)
|
rs886063031
|
|
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu)
|
rs773039925
|
|
NM_017780.4(CHD7):c.2097T>G (p.Ser699Arg)
|
rs767027265
|
|
NM_017780.4(CHD7):c.2426G>A (p.Arg809His)
|
rs1313215076
|
|
NM_017780.4(CHD7):c.2442+5G>C
|
rs387906271
|
|
NM_017780.4(CHD7):c.2499-20A>G
|
rs1803748923
|
|
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe)
|
rs886039881
|
|
NM_017780.4(CHD7):c.2787C>T (p.Ile929=)
|
rs771367272
|
|
NM_017780.4(CHD7):c.290G>A (p.Gly97Glu)
|
rs1809028585
|
|
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)
|
rs768184220
|
|
NM_017780.4(CHD7):c.3509A>G (p.Lys1170Arg)
|
rs1804369175
|
|
NM_017780.4(CHD7):c.3779-10A>G
|
rs886063035
|
|
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=)
|
rs181927766
|
|
NM_017780.4(CHD7):c.519del (p.Pro174fs)
|
rs1809050272
|
|
NM_017780.4(CHD7):c.5211-11T>G
|
rs886063036
|
|
NM_017780.4(CHD7):c.5333A>G (p.His1778Arg)
|
rs764082970
|
|
NM_017780.4(CHD7):c.5343T>C (p.Val1781=)
|
rs886063037
|
|
NM_017780.4(CHD7):c.5345C>T (p.Pro1782Leu)
|
rs891268640
|
|
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn)
|
rs1131692039
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly)
|
rs749861487
|
|
NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys)
|
rs749792505
|
|
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=)
|
rs757160222
|
|
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)
|
rs1554603970
|
|
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu)
|
rs1809000474
|
|
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val)
|
rs886063039
|
|
NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro)
|
rs1805566024
|
|
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=)
|
rs61733338
|
|
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=)
|
rs886063040
|
|
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser)
|
rs185940313
|
|
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys)
|
rs398124323
|
|
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro)
|
rs1319276265
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
NM_017780.4(CHD7):c.8006dup (p.Pro2670fs)
|
rs1586462917
|
|
NM_017780.4(CHD7):c.8094del (p.Met2699fs)
|
|
|
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe)
|
rs755563758
|
|
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)
|
rs886040962
|
|
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr)
|
rs533600930
|
|
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=)
|
rs375459176
|
|
NM_017780.4(CHD7):c.8892G>A (p.Lys2964=)
|
rs375867350
|
|