NM_017780.4(CHD7):c.-466A>G
|
rs71513464
|
0.12438
|
NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile)
|
rs142439525
|
0.00522
|
NM_001059.3(TACR3):c.-20G>A
|
rs201377092
|
0.00433
|
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)
|
rs139295139
|
0.00254
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_023110.3(FGFR1):c.*1026T>C
|
rs542417198
|
0.00214
|
NM_001059.3(TACR3):c.579C>T (p.Pro193=)
|
rs62340657
|
0.00164
|
NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr)
|
rs143073792
|
0.00151
|
NM_017780.4(CHD7):c.-230G>C
|
rs886063030
|
0.00124
|
NM_023110.3(FGFR1):c.-578A>C
|
rs558180061
|
0.00124
|
NM_017780.4(CHD7):c.*1116C>G
|
rs45504193
|
0.00117
|
NM_017780.4(CHD7):c.*1143A>G
|
rs45573835
|
0.00117
|
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val)
|
rs36026860
|
0.00100
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_023110.3(FGFR1):c.*1446A>C
|
rs578094209
|
0.00081
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00079
|
NM_023110.3(FGFR1):c.-338T>G
|
rs527518565
|
0.00077
|
NM_017780.4(CHD7):c.*251T>C
|
rs529121143
|
0.00068
|
NM_023110.2(FGFR1):c.-853G>C
|
rs553799602
|
0.00064
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_023110.3(FGFR1):c.-717C>T
|
rs772480875
|
0.00052
|
NM_023110.3(FGFR1):c.*203G>A
|
rs750732571
|
0.00051
|
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
|
rs200776757
|
0.00047
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_001059.3(TACR3):c.*138G>A
|
rs200193311
|
0.00041
|
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)
|
rs139399061
|
0.00039
|
NM_023110.3(FGFR1):c.*391C>T
|
rs764328455
|
0.00038
|
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)
|
rs199771303
|
0.00037
|
NM_023110.3(FGFR1):c.*1055C>T
|
rs761124911
|
0.00035
|
NM_023110.3(FGFR1):c.1431-5G>A
|
rs201773631
|
0.00033
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
NM_023110.3(FGFR1):c.*2057C>T
|
rs556829066
|
0.00031
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys)
|
rs17182463
|
0.00029
|
NM_023110.3(FGFR1):c.359-4A>G
|
rs185233212
|
0.00027
|
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)
|
rs146482011
|
0.00024
|
NM_017780.4(CHD7):c.*527C>T
|
rs1011990961
|
0.00024
|
NM_023110.3(FGFR1):c.*2391A>G
|
rs185729862
|
0.00024
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_023110.3(FGFR1):c.-263G>C
|
rs974672416
|
0.00023
|
NM_023110.3(FGFR1):c.*1711G>A
|
rs567642271
|
0.00021
|
NM_023110.3(FGFR1):c.-270G>A
|
rs578030717
|
0.00021
|
NM_023110.3(FGFR1):c.-741A>G
|
rs971464879
|
0.00021
|
NM_023110.3(FGFR1):c.168G>A (p.Arg56=)
|
rs147482922
|
0.00021
|
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)
|
rs2229013
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_001059.3(TACR3):c.-10A>T
|
rs200498239
|
0.00017
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)
|
rs369542138
|
0.00016
|
NM_023110.3(FGFR1):c.*345T>A
|
rs751699851
|
0.00016
|
NM_001059.3(TACR3):c.1290G>A (p.Thr430=)
|
rs138661164
|
0.00015
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_001024613.4(FEZF1):c.263C>T (p.Ala88Val)
|
rs893917390
|
0.00014
|
NM_017780.4(CHD7):c.4645-9T>C
|
rs766575601
|
0.00014
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)
|
rs200482627
|
0.00014
|
NM_144773.4(PROKR2):c.376G>A (p.Val126Met)
|
rs200048973
|
0.00014
|
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala)
|
rs318240751
|
0.00013
|
NM_017780.4(CHD7):c.*1120C>T
|
rs572548208
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_033163.5(FGF8):c.686C>T (p.Thr229Met)
|
rs137852664
|
0.00013
|
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_023110.3(FGFR1):c.*14G>A
|
rs371776128
|
0.00010
|
NM_023110.3(FGFR1):c.*2407C>T
|
rs758524862
|
0.00010
|
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)
|
rs767195580
|
0.00010
|
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)
|
rs149992595
|
0.00010
|
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_023110.3(FGFR1):c.*957C>T
|
rs941835357
|
0.00009
|
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)
|
rs369356672
|
0.00009
|
NM_023110.3(FGFR1):c.273C>T (p.Ser91=)
|
rs201823433
|
0.00009
|
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)
|
rs201054877
|
0.00009
|
NM_198391.3(FLRT3):c.1255A>T (p.Thr419Ser)
|
rs769008665
|
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.676T>C (p.Phe226Leu)
|
rs1294102203
|
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_023110.3(FGFR1):c.-320C>T
|
rs1356662413
|
0.00007
|
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)
|
rs781310679
|
0.00007
|
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)
|
rs377620009
|
0.00007
|
NM_001059.3(TACR3):c.918G>A (p.Met306Ile)
|
rs201088165
|
0.00006
|
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.3299G>A (p.Arg1100His)
|
rs767259131
|
0.00006
|
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=)
|
rs368919638
|
0.00006
|
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)
|
rs368747227
|
0.00006
|
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
|
rs777303307
|
0.00006
|
NM_023110.3(FGFR1):c.-555G>A
|
rs901616183
|
0.00006
|
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)
|
rs752627281
|
0.00006
|
NM_023110.3(FGFR1):c.2292+3A>G
|
rs747737281
|
0.00006
|
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp)
|
rs142008002
|
0.00006
|
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu)
|
rs1057519373
|
0.00005
|
NM_017780.4(CHD7):c.1104C>T (p.His368=)
|
rs763250461
|
0.00005
|
NM_017780.4(CHD7):c.1959G>A (p.Pro653=)
|
rs747024874
|
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.7082G>A (p.Arg2361Lys)
|
rs777753993
|
0.00005
|
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=)
|
rs757280832
|
0.00005
|
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys)
|
rs368934543
|
0.00005
|
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)
|
rs746602135
|
0.00005
|
NM_001059.3(TACR3):c.*87T>C
|
rs199959009
|
0.00004
|
NM_001130969.3(NSMF):c.586C>T (p.Arg196Cys)
|
rs776491850
|
0.00004
|
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His)
|
rs318240753
|
0.00004
|
NM_017780.4(CHD7):c.*1644A>G
|
rs886063053
|
0.00004
|
NM_017780.4(CHD7):c.*659T>C
|
rs886063048
|
0.00004
|
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=)
|
rs373942842
|
0.00004
|
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)
|
rs746633621
|
0.00004
|
NM_017780.4(CHD7):c.2238+12A>G
|
rs752854030
|
0.00004
|
NM_017780.4(CHD7):c.2820G>A (p.Pro940=)
|
rs539734440
|
0.00004
|
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln)
|
rs768481542
|
0.00004
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn)
|
rs767513261
|
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.5589G>A (p.Pro1863=)
|
rs376806146
|
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.6255G>T (p.Leu2085Phe)
|
rs561398606
|
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.6963C>T (p.Asp2321=)
|
rs757868659
|
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.8213C>T (p.Thr2738Met)
|
rs761409446
|
0.00004
|
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=)
|
rs199565939
|
0.00004
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
NM_023110.2(FGFR1):c.-747C>G
|
rs917928821
|
0.00004
|
NM_023110.3(FGFR1):c.*252G>A
|
rs781117513
|
0.00004
|
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)
|
rs752601407
|
0.00004
|
NM_023110.3(FGFR1):c.2293-11G>A
|
rs886062919
|
0.00004
|
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)
|
rs759376422
|
0.00004
|
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)
|
rs778166317
|
0.00004
|
NM_023110.3(FGFR1):c.741C>T (p.Val247=)
|
rs745325958
|
0.00004
|
NM_023110.3(FGFR1):c.742G>A (p.Val248Met)
|
rs186746130
|
0.00004
|
NM_144773.4(PROKR2):c.803G>A (p.Arg268His)
|
rs781065670
|
0.00004
|
NM_144773.4(PROKR2):c.819G>A (p.Thr273=)
|
rs755527948
|
0.00004
|
NM_001059.3(TACR3):c.*143G>A
|
rs145839786
|
0.00003
|
NM_001059.3(TACR3):c.1206C>T (p.Thr402=)
|
rs201120800
|
0.00003
|
NM_001059.3(TACR3):c.737C>T (p.Thr246Ile)
|
rs200991185
|
0.00003
|
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.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_017780.4(CHD7):c.8364T>C (p.Asp2788=)
|
rs886063041
|
0.00003
|
NM_023110.3(FGFR1):c.*1286C>T
|
rs886062909
|
0.00003
|
NM_023110.3(FGFR1):c.*1560C>T
|
rs761096092
|
0.00003
|
NM_023110.3(FGFR1):c.*1965G>A
|
rs886062907
|
0.00003
|
NM_023110.3(FGFR1):c.*2408C>T
|
rs1004230937
|
0.00003
|
NM_023110.3(FGFR1):c.*262C>T
|
rs915960243
|
0.00003
|
NM_023110.3(FGFR1):c.*70C>T
|
rs886062918
|
0.00003
|
NM_023110.3(FGFR1):c.*762A>G
|
rs886062914
|
0.00003
|
NM_023110.3(FGFR1):c.*802C>T
|
rs938792635
|
0.00003
|
NM_023110.3(FGFR1):c.*991G>A
|
rs866647792
|
0.00003
|
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)
|
rs372654433
|
0.00003
|
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)
|
rs747333248
|
0.00003
|
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)
|
rs777345476
|
0.00003
|
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)
|
rs1301127877
|
0.00003
|
NM_023110.3(FGFR1):c.181G>A (p.Val61Met)
|
rs762089291
|
0.00003
|
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)
|
rs149396342
|
0.00003
|
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp)
|
rs483352766
|
0.00003
|
NM_000216.4(ANOS1):c.640C>G (p.Pro214Ala)
|
rs138050192
|
0.00002
|
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.1244C>T (p.Pro415Leu)
|
rs765180149
|
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.3238A>G (p.Ile1080Val)
|
rs1271767085
|
0.00002
|
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)
|
rs762669262
|
0.00002
|
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys)
|
rs764675280
|
0.00002
|
NM_017780.4(CHD7):c.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.6184C>T (p.Arg2062Trp)
|
rs886063038
|
0.00002
|
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met)
|
rs1349507815
|
0.00002
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
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.755C>T (p.Ser252Leu)
|
rs371930390
|
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.8767G>A (p.Ala2923Thr)
|
rs1242867481
|
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_023110.3(FGFR1):c.*913G>A
|
rs886062912
|
0.00002
|
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)
|
rs777103792
|
0.00002
|
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
|
rs749903780
|
0.00002
|
NM_023110.3(FGFR1):c.193A>C (p.Asn65His)
|
rs768919123
|
0.00002
|
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)
|
rs374473310
|
0.00002
|
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)
|
rs771680156
|
0.00002
|
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)
|
rs758677681
|
0.00002
|
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)
|
rs1419947824
|
0.00002
|
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)
|
rs762665767
|
0.00002
|
NM_023110.3(FGFR1):c.549C>T (p.Thr183=)
|
rs886062920
|
0.00002
|
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)
|
rs145434725
|
0.00002
|
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)
|
rs606231407
|
0.00002
|
NM_144773.4(PROKR2):c.537G>A (p.Met179Ile)
|
rs770233566
|
0.00002
|
NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys)
|
rs921084722
|
0.00002
|
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)
|
rs1449749900
|
0.00001
|
NM_000216.4(ANOS1):c.1826C>A (p.Ser609Tyr)
|
rs1374828050
|
0.00001
|
NM_001035235.4(SRA1):c.341G>A (p.Arg114His)
|
rs1306465994
|
0.00001
|
NM_001059.3(TACR3):c.*125A>G
|
rs201125726
|
0.00001
|
NM_001059.3(TACR3):c.-111C>A
|
rs371989130
|
0.00001
|
NM_001059.3(TACR3):c.114G>T (p.Glu38Asp)
|
rs886058977
|
0.00001
|
NM_001059.3(TACR3):c.1234G>A (p.Val412Met)
|
rs151158699
|
0.00001
|
NM_001059.3(TACR3):c.1289C>T (p.Thr430Met)
|
rs200736098
|
0.00001
|
NM_001059.3(TACR3):c.150C>T (p.Asn50=)
|
rs201531776
|
0.00001
|
NM_001059.3(TACR3):c.688C>T (p.Arg230Cys)
|
rs1195516345
|
0.00001
|
NM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly)
|
rs1174502792
|
0.00001
|
NM_001946.4(DUSP6):c.169G>A (p.Ala57Thr)
|
rs936222145
|
0.00001
|
NM_017563.5(IL17RD):c.1373C>G (p.Ala458Gly)
|
rs867131722
|
0.00001
|
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.1042C>A (p.Pro348Thr)
|
rs747263275
|
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.1566C>T (p.Gly522=)
|
rs759347960
|
0.00001
|
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)
|
rs778361949
|
0.00001
|
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)
|
rs769625033
|
0.00001
|
NM_017780.4(CHD7):c.1887A>G (p.Leu629=)
|
rs1480207845
|
0.00001
|
NM_017780.4(CHD7):c.1908G>A (p.Gly636=)
|
rs923306494
|
0.00001
|
NM_017780.4(CHD7):c.1977C>T (p.Pro659=)
|
rs886063034
|
0.00001
|
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)
|
rs1373820202
|
0.00001
|
NM_017780.4(CHD7):c.202C>T (p.His68Tyr)
|
rs886063032
|
0.00001
|
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met)
|
rs373706363
|
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.2355C>T (p.Asn785=)
|
rs376696075
|
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.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.2836-5A>G
|
rs779518202
|
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.308C>T (p.Ser103Leu)
|
rs1242372187
|
0.00001
|
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys)
|
rs759929302
|
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.3899C>A (p.Pro1300Gln)
|
rs185150226
|
0.00001
|
NM_017780.4(CHD7):c.4644+14C>T
|
rs1368983693
|
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.4811G>C (p.Ser1604Thr)
|
rs367722051
|
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.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.5828G>A (p.Arg1943Gln)
|
rs753723769
|
0.00001
|
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln)
|
rs374040699
|
0.00001
|
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly)
|
rs1805484724
|
0.00001
|
NM_017780.4(CHD7):c.5915C>G (p.Ala1972Gly)
|
rs1013310877
|
0.00001
|
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys)
|
rs192260844
|
0.00001
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
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.6936+6C>T
|
rs762730711
|
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.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.7673C>T (p.Pro2558Leu)
|
rs776711005
|
0.00001
|
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg)
|
rs774255090
|
0.00001
|
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu)
|
rs1468230389
|
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.8168G>A (p.Ser2723Asn)
|
rs756347672
|
0.00001
|
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg)
|
rs373124679
|
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.8798C>G (p.Ser2933Cys)
|
rs374344463
|
0.00001
|
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
|
rs374004489
|
0.00001
|
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu)
|
rs768014298
|
0.00001
|
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys)
|
rs1472626804
|
0.00001
|
NM_023110.2(FGFR1):c.-755C>G
|
rs1225240095
|
0.00001
|
NM_023110.2(FGFR1):c.-849C>A
|
rs1050158070
|
0.00001
|
NM_023110.3(FGFR1):c.*1086A>T
|
rs1287148499
|
0.00001
|
NM_023110.3(FGFR1):c.*112C>T
|
rs1189535138
|
0.00001
|
NM_023110.3(FGFR1):c.*1149G>A
|
rs923197183
|
0.00001
|
NM_023110.3(FGFR1):c.*2445A>G
|
rs1261528641
|
0.00001
|
NM_023110.3(FGFR1):c.*928G>A
|
rs1814772534
|
0.00001
|
NM_023110.3(FGFR1):c.-444C>T
|
rs1835972353
|
0.00001
|
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)
|
rs774768179
|
0.00001
|
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)
|
rs982371464
|
0.00001
|
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val)
|
rs1324436328
|
0.00001
|
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)
|
rs377648976
|
0.00001
|
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
|
rs1085307493
|
0.00001
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
NM_023110.3(FGFR1):c.1430+13T>C
|
rs763815221
|
0.00001
|
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)
|
rs397515444
|
0.00001
|
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)
|
rs767419329
|
0.00001
|
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)
|
rs199499923
|
0.00001
|
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr)
|
rs749758370
|
0.00001
|
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys)
|
rs778531708
|
0.00001
|
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)
|
rs771720144
|
0.00001
|
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg)
|
rs903239767
|
0.00001
|
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)
|
rs200116660
|
0.00001
|
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)
|
rs755002934
|
0.00001
|
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=)
|
rs780009859
|
0.00001
|
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)
|
rs532741632
|
0.00001
|
NM_023110.3(FGFR1):c.2187-14C>T
|
rs1390439587
|
0.00001
|
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)
|
rs1329256283
|
0.00001
|
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)
|
rs527606454
|
0.00001
|
NM_023110.3(FGFR1):c.2292+6G>T
|
rs905873179
|
0.00001
|
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)
|
rs377149398
|
0.00001
|
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)
|
rs767698667
|
0.00001
|
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)
|
rs1815142188
|
0.00001
|
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=)
|
rs1014179319
|
0.00001
|
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)
|
rs17182456
|
0.00001
|
NM_023110.3(FGFR1):c.274G>A (p.Val92Met)
|
rs755828990
|
0.00001
|
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)
|
rs775020833
|
0.00001
|
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)
|
rs747842199
|
0.00001
|
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu)
|
rs121913473
|
0.00001
|
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)
|
rs750795714
|
0.00001
|
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro)
|
rs764533580
|
0.00001
|
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)
|
rs780153672
|
0.00001
|
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)
|
rs515726222
|
0.00001
|
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser)
|
rs746094709
|
0.00001
|
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)
|
rs770139002
|
0.00001
|
NM_023110.3(FGFR1):c.621+4C>T
|
rs750639887
|
0.00001
|
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val)
|
rs763771933
|
0.00001
|
NM_023110.3(FGFR1):c.663G>T (p.Val221=)
|
rs766451294
|
0.00001
|
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)
|
rs143341876
|
0.00001
|
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)
|
rs1230569367
|
0.00001
|
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)
|
rs751651299
|
0.00001
|
NM_023110.3(FGFR1):c.91+6G>T
|
rs886062921
|
0.00001
|
NM_144773.4(PROKR2):c.1052A>C (p.His351Pro)
|
rs1425069359
|
0.00001
|
NM_144773.4(PROKR2):c.208G>A (p.Gly70Ser)
|
rs764674615
|
0.00001
|
NM_144773.4(PROKR2):c.273C>T (p.Leu91=)
|
rs759954578
|
0.00001
|
NM_144773.4(PROKR2):c.930C>G (p.His310Gln)
|
rs775755881
|
0.00001
|
NM_144773.4(PROKR2):c.955G>A (p.Glu319Lys)
|
rs754796297
|
0.00001
|
NC_000002.12:g.128262169_128275055dup
|
|
|
NC_000008.10:g.(?_37595441)_(38961219_?)dup
|
|
|
NC_000008.11:g.60867891_60867903delins60868515_60868872
|
|
|
NC_000023.10:g.(?_8501036)_(8700077_?)dup
|
|
|
NC_000023.10:g.(?_8555815)_(8700097_?)dup
|
|
|
NC_000023.10:g.(?_8667719)_(8700097_?)dup
|
|
|
NM_000216.4(ANOS1):c.1043G>A (p.Arg348Gln)
|
|
|
NM_000216.4(ANOS1):c.1062+5G>A
|
rs2146807050
|
|
NM_000216.4(ANOS1):c.1112T>C (p.Val371Ala)
|
|
|
NM_000216.4(ANOS1):c.1210G>A (p.Glu404Lys)
|
|
|
NM_000216.4(ANOS1):c.1243C>A (p.Gln415Lys)
|
|
|
NM_000216.4(ANOS1):c.1250A>G (p.Gln417Arg)
|
|
|
NM_000216.4(ANOS1):c.1307A>G (p.Tyr436Cys)
|
|
|
NM_000216.4(ANOS1):c.130G>A (p.Val44Ile)
|
|
|
NM_000216.4(ANOS1):c.1311G>A (p.Gln437=)
|
rs2146796763
|
|
NM_000216.4(ANOS1):c.1354+1del
|
rs764687970
|
|
NM_000216.4(ANOS1):c.139G>T (p.Ala47Ser)
|
|
|
NM_000216.4(ANOS1):c.1516C>T (p.Arg506Trp)
|
|
|
NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr)
|
rs1555904582
|
|
NM_000216.4(ANOS1):c.1598C>T (p.Pro533Leu)
|
|
|
NM_000216.4(ANOS1):c.1699G>C (p.Gly567Arg)
|
|
|
NM_000216.4(ANOS1):c.1704C>A (p.His568Gln)
|
|
|
NM_000216.4(ANOS1):c.1736A>G (p.Tyr579Cys)
|
|
|
NM_000216.4(ANOS1):c.1852G>A (p.Val618Ile)
|
|
|
NM_000216.4(ANOS1):c.1871T>G (p.Leu624Arg)
|
rs1929555187
|
|
NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)
|
|
|
NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys)
|
rs776867068
|
|
NM_000216.4(ANOS1):c.2039A>G (p.Tyr680Cys)
|
rs2146784839
|
|
NM_000216.4(ANOS1):c.207G>C (p.Gln69His)
|
|
|
NM_000216.4(ANOS1):c.25G>A (p.Val9Ile)
|
|
|
NM_000216.4(ANOS1):c.318+3del
|
rs2146846669
|
|
NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg)
|
rs1930756318
|
|
NM_000216.4(ANOS1):c.397G>A (p.Asp133Asn)
|
|
|
NM_000216.4(ANOS1):c.486A>C (p.Lys162Asn)
|
|
|
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser)
|
rs1930749813
|
|
NM_000216.4(ANOS1):c.520G>A (p.Val174Ile)
|
|
|
NM_000216.4(ANOS1):c.857-10G>A
|
rs1428532575
|
|
NM_000216.4(ANOS1):c.874G>A (p.Ala292Thr)
|
rs2146807313
|
|
NM_000216.4(ANOS1):c.937A>G (p.Ile313Val)
|
|
|
NM_001059.3(TACR3):c.*202G>C
|
rs886058970
|
|
NM_001059.3(TACR3):c.*94T>G
|
rs1723845345
|
|
NM_001059.3(TACR3):c.-20G>C
|
rs201377092
|
|
NM_001059.3(TACR3):c.-86C>A
|
rs886058978
|
|
NM_001059.3(TACR3):c.-93A>G
|
rs1723174170
|
|
NM_001059.3(TACR3):c.1188G>A (p.Arg396=)
|
rs886058974
|
|
NM_001059.3(TACR3):c.1225A>G (p.Met409Val)
|
rs201828791
|
|
NM_001059.3(TACR3):c.1230A>T (p.Thr410=)
|
rs886058973
|
|
NM_001059.3(TACR3):c.1311T>C (p.Asn437=)
|
rs886058972
|
|
NM_001059.3(TACR3):c.1345G>T (p.Ala449Ser)
|
rs17033889
|
|
NM_001059.3(TACR3):c.138C>T (p.Asp46=)
|
rs181951458
|
|
NM_001059.3(TACR3):c.548+2T>A
|
rs772508077
|
|
NM_001059.3(TACR3):c.703G>A (p.Val235Met)
|
rs886058976
|
|
NM_001127496.3(SPRY4):c.278G>A (p.Ser93Asn)
|
|
|
NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe)
|
rs1588492186
|
|
NM_001130969.3(NSMF):c.194C>A (p.Pro65His)
|
|
|
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)
|
rs587776978
|
|
NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn)
|
rs1693560929
|
|
NM_017780.4(CHD7):c.*1374C>A
|
rs1351282001
|
|
NM_017780.4(CHD7):c.*1469G>T
|
rs886063051
|
|
NM_017780.4(CHD7):c.*1663AG[1]
|
rs761460675
|
|
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.*338del
|
rs886063045
|
|
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.-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.-469G>A
|
rs868087197
|
|
NM_017780.4(CHD7):c.-472G>A
|
rs865775134
|
|
NM_017780.4(CHD7):c.-481G>A
|
rs886063024
|
|
NM_017780.4(CHD7):c.-490GGC[10]
|
rs886063023
|
|
NM_017780.4(CHD7):c.-490GGC[9]
|
rs886063023
|
|
NM_017780.4(CHD7):c.109A>G (p.Met37Val)
|
rs1416709395
|
|
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu)
|
rs757050240
|
|
NM_017780.4(CHD7):c.1238T>G (p.Val413Gly)
|
rs1021434443
|
|
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)
|
rs772369092
|
|
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.1577A>G (p.Gln526Arg)
|
rs2150581368
|
|
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.1740_1744delinsTC (p.Val581_Lys582delinsGln)
|
rs1554588657
|
|
NM_017780.4(CHD7):c.1748G>C (p.Ser583Thr)
|
|
|
NM_017780.4(CHD7):c.1856A>G (p.Asp619Gly)
|
rs1375813352
|
|
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)
|
rs1563595031
|
|
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)
|
rs755898600
|
|
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.2499-20A>G
|
rs1803748923
|
|
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile)
|
rs1809027007
|
|
NM_017780.4(CHD7):c.290G>A (p.Gly97Glu)
|
rs1809028585
|
|
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)
|
rs750203389
|
|
NM_017780.4(CHD7):c.3509A>G (p.Lys1170Arg)
|
rs1804369175
|
|
NM_017780.4(CHD7):c.3779-10A>G
|
rs886063035
|
|
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)
|
rs373301291
|
|
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu)
|
rs1434566381
|
|
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
|
|
|
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg)
|
rs2150578491
|
|
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.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.6178C>G (p.Leu2060Val)
|
rs1302545775
|
|
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu)
|
rs1563660814
|
|
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val)
|
rs886063039
|
|
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp)
|
rs1398262614
|
|
NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro)
|
rs1805566024
|
|
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser)
|
rs1809061303
|
|
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
|
rs754527047
|
|
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=)
|
rs886063040
|
|
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.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.7682G>A (p.Gly2561Glu)
|
rs1046787337
|
|
NM_017780.4(CHD7):c.7971+6C>G
|
rs769103057
|
|
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr)
|
rs1806179701
|
|
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser)
|
rs1806181643
|
|
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val)
|
rs770781688
|
|
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe)
|
rs755563758
|
|
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro)
|
rs1373512004
|
|
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=)
|
rs375459176
|
|
NM_017780.4(CHD7):c.8892G>A (p.Lys2964=)
|
rs375867350
|
|
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)
|
rs886063033
|
|
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del)
|
rs771806027
|
|
NM_018117.12(WDR11):c.1079G>A (p.Ser360Asn)
|
|
|
NM_018117.12(WDR11):c.2149G>A (p.Ala717Thr)
|
|
|
NM_018117.12(WDR11):c.2321C>T (p.Ala774Val)
|
|
|
NM_018117.12(WDR11):c.3050T>A (p.Leu1017Gln)
|
|
|
NM_018117.12(WDR11):c.3665T>C (p.Ile1222Thr)
|
|
|
NM_023110.3(FGFR1):c.*1124C>G
|
rs561923573
|
|
NM_023110.3(FGFR1):c.*1144G>A
|
rs886062911
|
|
NM_023110.3(FGFR1):c.*118C>T
|
rs886062916
|
|
NM_023110.3(FGFR1):c.*1218T>C
|
rs886062910
|
|
NM_023110.3(FGFR1):c.*1616T>G
|
rs886062908
|
|
NM_023110.3(FGFR1):c.*1676G>A
|
rs763761019
|
|
NM_023110.3(FGFR1):c.*1723C>T
|
rs1200256665
|
|
NM_023110.3(FGFR1):c.*1823G>A
|
rs1814497706
|
|
NM_023110.3(FGFR1):c.*1982A>C
|
rs536000259
|
|
NM_023110.3(FGFR1):c.*212G>A
|
rs1815042970
|
|
NM_023110.3(FGFR1):c.*231C>T
|
rs1815036929
|
|
NM_023110.3(FGFR1):c.*313T>C
|
rs886062915
|
|
NM_023110.3(FGFR1):c.*313T>G
|
rs886062915
|
|
NM_023110.3(FGFR1):c.*494A>G
|
rs562843836
|
|
NM_023110.3(FGFR1):c.*71A>G
|
rs886062917
|
|
NM_023110.3(FGFR1):c.*819T>G
|
rs1814814648
|
|
NM_023110.3(FGFR1):c.*845T>C
|
rs886062913
|
|
NM_023110.3(FGFR1):c.*958G>A
|
rs537880800
|
|
NM_023110.3(FGFR1):c.-116C>T
|
rs1835923576
|
|
NM_023110.3(FGFR1):c.-117C>G
|
rs994485282
|
|
NM_023110.3(FGFR1):c.-278C>A
|
rs1835944475
|
|
NM_023110.3(FGFR1):c.-413G>A
|
rs984098100
|
|
NM_023110.3(FGFR1):c.-434G>A
|
rs941457992
|
|
NM_023110.3(FGFR1):c.-466C>T
|
rs1835975713
|
|
NM_023110.3(FGFR1):c.-522G>T
|
rs1208796305
|
|
NM_023110.3(FGFR1):c.-552C>G
|
rs1835988153
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
NM_023110.3(FGFR1):c.1016A>G (p.Tyr339Cys)
|
|
|
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)
|
rs1064793123
|
|
NM_023110.3(FGFR1):c.1037C>G (p.Ser346Cys)
|
|
|
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)
|
rs727505371
|
|
NM_023110.3(FGFR1):c.1058C>T (p.Ser353Phe)
|
|
|
NM_023110.3(FGFR1):c.1063T>C (p.Trp355Arg)
|
|
|
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)
|
rs1563474845
|
|
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr)
|
rs2150966948
|
|
NM_023110.3(FGFR1):c.1072G>C (p.Val358Leu)
|
rs774768179
|
|
NM_023110.3(FGFR1):c.113dup (p.Glu39fs)
|
|
|
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)
|
rs1338926241
|
|
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)
|
rs376921992
|
|
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
|
|
|
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)
|
rs1817962450
|
|
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg)
|
rs2150706408
|
|
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
|
|
|
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg)
|
rs1232639613
|
|
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala)
|
rs1817948350
|
|
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
|
|
|
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
|
|
|
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
|
|
|
NM_023110.3(FGFR1):c.1279G>T (p.Val427Leu)
|
|
|
NM_023110.3(FGFR1):c.1285G>T (p.Val429Leu)
|
|
|
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
|
|
|
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
|
|
|
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)
|
rs758138124
|
|
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)
|
rs758138124
|
|
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe)
|
rs2150675272
|
|
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
|
|
|
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
|
|
|
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)
|
rs121909637
|
|
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
|
|
|
NM_023110.3(FGFR1):c.1430+4A>G
|
|
|
NM_023110.3(FGFR1):c.1447C>A (p.Pro483Thr)
|
rs397515444
|
|
NM_023110.3(FGFR1):c.1474G>A (p.Val492Met)
|
|
|
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
|
|
|
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
|
|
|
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)
|
rs759552236
|
|
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
|
|
|
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
|
|
|
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln)
|
rs199573818
|
|
NM_023110.3(FGFR1):c.1552+5G>A
|
|
|
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
|
|
|
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
|
|
|
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
|
|
|
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
|
|
|
NM_023110.3(FGFR1):c.1612A>G (p.Ile538Val)
|
|
|
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg)
|
rs201158796
|
|
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr)
|
rs2150964150
|
|
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)
|
rs760702592
|
|
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val)
|
rs2150591908
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg)
|
rs531903077
|
|
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
|
|
|
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=)
|
rs1816417552
|
|
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln)
|
rs1482868825
|
|
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp)
|
rs1162148796
|
|
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
|
|
|
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr)
|
rs2150585866
|
|
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
|
|
|
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
|
|
|
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
|
|
|
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del)
|
rs1387712427
|
|
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
|
|
|
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
|
|
|
NM_023110.3(FGFR1):c.1829G>T (p.Gly610Val)
|
|
|
NM_023110.3(FGFR1):c.1835A>G (p.Glu612Gly)
|
|
|
NM_023110.3(FGFR1):c.1854+15_1854+31del
|
|
|
NM_023110.3(FGFR1):c.1854+17C>G
|
|
|
NM_023110.3(FGFR1):c.1854+7A>T
|
|
|
NM_023110.3(FGFR1):c.185_199del (p.Gln62_Trp66del)
|
rs2150962421
|
|
NM_023110.3(FGFR1):c.1862A>C (p.His621Pro)
|
rs2150565397
|
|
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)
|
rs1815818452
|
|
NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro)
|
rs1586113652
|
|
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu)
|
rs2150563316
|
|
NM_023110.3(FGFR1):c.1909A>G (p.Met637Val)
|
rs2150563224
|
|
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val)
|
rs1815800575
|
|
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
|
|
|
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
|
|
|
NM_023110.3(FGFR1):c.1936C>G (p.Arg646Gly)
|
|
|
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
|
|
|
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
|
|
|
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
|
|
|
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)
|
rs771078736
|
|
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe)
|
rs2150549553
|
|
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
|
|
|
NM_023110.3(FGFR1):c.2054C>G (p.Ser685Cys)
|
|
|
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
|
|
|
NM_023110.3(FGFR1):c.2062G>T (p.Val688Leu)
|
|
|
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)
|
rs397515445
|
|
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
|
|
|
NM_023110.3(FGFR1):c.2099C>T (p.Pro700Leu)
|
|
|
NM_023110.3(FGFR1):c.2102A>G (p.Tyr701Cys)
|
|
|
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
|
|
|
NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg)
|
rs768957161
|
|
NM_023110.3(FGFR1):c.2146G>T (p.Gly716Cys)
|
|
|
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
|
|
|
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)
|
rs267606806
|
|
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)
|
|
|
NM_023110.3(FGFR1):c.2187-13A>G
|
|
|
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg)
|
rs1554546677
|
|
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
|
rs2150520798
|
|
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
|
|
|
NM_023110.3(FGFR1):c.2263G>C (p.Asp755His)
|
|
|
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
|
|
|
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
|
|
|
NM_023110.3(FGFR1):c.2302G>C (p.Asp768His)
|
rs121909644
|
|
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr)
|
rs121909644
|
|
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)
|
rs1232665126
|
|
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
|
|
|
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
|
|
|
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
|
|
|
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
|
|
|
NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)
|
|
|
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
|
|
|
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)
|
rs755160898
|
|
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
|
|
|
NM_023110.3(FGFR1):c.239G>C (p.Arg80Pro)
|
|
|
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
|
|
|
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
|
|
|
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)
|
rs759376422
|
|
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
|
|
|
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
|
|
|
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
|
|
|
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
|
|
|
NM_023110.3(FGFR1):c.256G>A (p.Val86Met)
|
rs1404670039
|
|
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
|
|
|
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
|
|
|
NM_023110.3(FGFR1):c.284A>G (p.Asp95Gly)
|
|
|
NM_023110.3(FGFR1):c.286T>C (p.Ser96Pro)
|
|
|
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys)
|
rs1260404537
|
|
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
|
|
|
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His)
|
rs1822219907
|
|
NM_023110.3(FGFR1):c.305T>G (p.Val102Gly)
|
|
|
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
|
|
|
NM_023110.3(FGFR1):c.317C>T (p.Pro106Leu)
|
|
|
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
|
|
|
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
|
|
|
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser)
|
rs2150955298
|
|
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
|
|
|
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
|
|
|
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)
|
rs138489552
|
|
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)
|
rs1161536828
|
|
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
|
|
|
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
|
|
|
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
|
|
|
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
|
|
|
NM_023110.3(FGFR1):c.449-4dup
|
|
|
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)
|
rs1033377277
|
|
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu)
|
rs1413642890
|
|
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
|
|
|
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg)
|
rs2150914598
|
|
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg)
|
rs2150912609
|
|
NM_023110.3(FGFR1):c.564_565delinsTT (p.Arg189Cys)
|
|
|
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys)
|
rs863223331
|
|
NM_023110.3(FGFR1):c.591C>A (p.Phe197Leu)
|
|
|
NM_023110.3(FGFR1):c.604A>G (p.Arg202Gly)
|
|
|
NM_023110.3(FGFR1):c.606A>T (p.Arg202Ser)
|
rs2150910084
|
|
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
|
|
|
NM_023110.3(FGFR1):c.619A>G (p.Lys207Glu)
|
|
|
NM_023110.3(FGFR1):c.621+5G>A
|
|
|
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
|
|
|
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
|
|
|
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
|
|
|
NM_023110.3(FGFR1):c.694G>A (p.Val232Met)
|
|
|
NM_023110.3(FGFR1):c.700A>G (p.Asn234Asp)
|
|
|
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
|
|
|
NM_023110.3(FGFR1):c.764C>T (p.Pro255Leu)
|
|
|
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn)
|
rs1833133571
|
|
NM_023110.3(FGFR1):c.817G>A (p.Val273Met)
|
rs1131691929
|
|
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)
|
rs727505369
|
|
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
|
|
|
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
|
|
|
NM_023110.3(FGFR1):c.841A>G (p.Ser281Gly)
|
|
|
NM_023110.3(FGFR1):c.848C>G (p.Pro283Arg)
|
|
|
NM_023110.3(FGFR1):c.854C>G (p.Pro285Arg)
|
|
|
NM_023110.3(FGFR1):c.861C>T (p.Ile287=)
|
rs1370490922
|
|
NM_023110.3(FGFR1):c.863A>T (p.Gln288Leu)
|
rs2150818410
|
|
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
|
|
|
NM_023110.3(FGFR1):c.887A>T (p.Asn296Ile)
|
|
|
NM_023110.3(FGFR1):c.92-19G>A
|
rs753723806
|
|
NM_023110.3(FGFR1):c.92-3C>T
|
rs1822349929
|
|
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)
|
|
|
NM_032551.5(KISS1R):c.749T>A (p.Leu250Gln)
|
rs752689988
|
|
NM_032551.5(KISS1R):c.82A>C (p.Asn28His)
|
rs2145316796
|
|
NM_033163.5(FGF8):c.157-6C>G
|
rs2065069146
|
|
NM_033163.5(FGF8):c.278A>G (p.His93Arg)
|
|
|
NM_033163.5(FGF8):c.335_337+2del
|
rs2065066261
|
|
NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu)
|
rs368145317
|
|
NM_144773.4(PROKR2):c.1111G>A (p.Gly371Arg)
|
rs201023639
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_144773.4(PROKR2):c.328G>A (p.Glu110Lys)
|
rs756998275
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144773.4(PROKR2):c.725G>A (p.Cys242Tyr)
|
rs1404173625
|
|
NM_144773.4(PROKR2):c.797G>T (p.Arg266Leu)
|
rs143647776
|
|
NM_144773.4(PROKR2):c.818C>A (p.Thr273Lys)
|
rs779117079
|
|
NM_144773.4(PROKR2):c.889G>T (p.Val297Phe)
|
rs139399061
|
|
NM_144773.4(PROKR2):c.937A>G (p.Thr313Ala)
|
|
|
NM_198391.3(FLRT3):c.1727C>T (p.Ala576Val)
|
|
|
NM_198391.3(FLRT3):c.999G>A (p.Met333Ile)
|
|
|
NM_207037.2(TCF12):c.20dup (p.Met8fs)
|
|
|
Single allele
|
|
|