ClinVar Miner

List of variants reported as uncertain significance for Kallmann syndrome

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 748
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HGVS dbSNP gnomAD frequency
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

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