ClinVar Miner

List of variants reported as uncertain significance for Weill-Marchesani syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 575
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982 0.00563
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672 0.00353
NM_000428.3(LTBP2):c.*705C>T rs41307092 0.00320
NM_030957.4(ADAMTS10):c.*630C>T rs187201074 0.00235
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_139057.4(ADAMTS17):c.*1685G>A rs573719295 0.00232
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) rs146934810 0.00209
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472 0.00183
NM_000428.3(LTBP2):c.*1631C>T rs183119073 0.00178
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763 0.00178
NM_139057.4(ADAMTS17):c.*1766G>A rs139353567 0.00171
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) rs143817747 0.00136
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=) rs142320702 0.00133
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143 0.00128
NM_139057.4(ADAMTS17):c.*2220G>A rs559688841 0.00128
NM_139057.4(ADAMTS17):c.*2616G>A rs375704403 0.00124
NM_000428.3(LTBP2):c.-55G>A rs571506111 0.00109
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412 0.00105
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_139057.4(ADAMTS17):c.*742C>T rs555201429 0.00102
NM_000428.3(LTBP2):c.*2569G>A rs531824728 0.00094
NM_000428.3(LTBP2):c.*743G>A rs541978964 0.00092
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425 0.00092
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790 0.00083
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751 0.00082
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala) rs946108501 0.00077
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770 0.00075
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077 0.00072
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His) rs144166844 0.00071
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) rs142675579 0.00068
NM_030957.4(ADAMTS10):c.1743C>T (p.Ile581=) rs147694025 0.00067
NM_139057.4(ADAMTS17):c.*2790C>G rs529656441 0.00063
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) rs146651611 0.00061
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994 0.00059
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=) rs144521879 0.00056
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976 0.00056
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935 0.00056
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623 0.00055
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486 0.00053
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln) rs151257275 0.00053
NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile) rs145507464 0.00051
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259 0.00051
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849 0.00051
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=) rs150290429 0.00051
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val) rs138620046 0.00044
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys) rs143689354 0.00039
NM_000428.3(LTBP2):c.*229C>T rs141989493 0.00038
NM_139057.4(ADAMTS17):c.-22G>A rs760846321 0.00036
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796 0.00036
NM_030957.4(ADAMTS10):c.303C>T (p.His101=) rs141630862 0.00035
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613 0.00035
NM_139057.4(ADAMTS17):c.-69C>T rs534119279 0.00035
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794 0.00035
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=) rs113219139 0.00034
NM_139057.4(ADAMTS17):c.*1684C>T rs768887596 0.00034
NM_000428.3(LTBP2):c.1789+7G>A rs200259519 0.00033
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_030957.4(ADAMTS10):c.*146G>A rs910156203 0.00032
NM_139057.4(ADAMTS17):c.*2275A>G rs778643467 0.00031
NM_000428.3(LTBP2):c.2789-9T>C rs368269193 0.00030
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000428.3(LTBP2):c.*312T>C rs534807623 0.00029
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800 0.00029
NM_139057.4(ADAMTS17):c.789+9G>A rs377670601 0.00029
NM_139057.4(ADAMTS17):c.*519T>C rs886050966 0.00028
NM_000138.5(FBN1):c.-136G>C rs879283668 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000428.3(LTBP2):c.*167G>A rs574028105 0.00026
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662 0.00026
NM_139057.4(ADAMTS17):c.*572T>C rs751250175 0.00026
NM_030957.4(ADAMTS10):c.*356G>A rs141523849 0.00025
NM_139057.4(ADAMTS17):c.*2422C>T rs528644699 0.00025
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386 0.00025
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475 0.00025
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000428.3(LTBP2):c.2184C>T (p.His728=) rs140818407 0.00024
NM_139057.4(ADAMTS17):c.*4G>A rs200989311 0.00024
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783 0.00023
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His) rs143010135 0.00022
NM_030957.4(ADAMTS10):c.-99-3C>T rs1047616409 0.00022
NM_139057.4(ADAMTS17):c.*419C>T rs1038576369 0.00022
NM_000428.3(LTBP2):c.*1005C>T rs541743695 0.00021
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) rs550588972 0.00020
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902 0.00020
NM_000428.3(LTBP2):c.*1180C>T rs576929018 0.00019
NM_000428.3(LTBP2):c.568G>A (p.Val190Ile) rs558742251 0.00019
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427 0.00019
NM_139057.4(ADAMTS17):c.*966G>T rs886050963 0.00019
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met) rs142633005 0.00019
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979 0.00019
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe) rs141367283 0.00019
NM_030957.4(ADAMTS10):c.-60G>A rs573082154 0.00017
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305 0.00017
NM_000428.3(LTBP2):c.*55G>A rs185374765 0.00016
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048 0.00016
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413 0.00016
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly) rs201734269 0.00015
NM_030957.4(ADAMTS10):c.-153G>A rs568567704 0.00014
NM_139057.4(ADAMTS17):c.*1127C>T rs766519775 0.00014
NM_139057.4(ADAMTS17):c.*464C>T rs148258011 0.00014
NM_000428.3(LTBP2):c.-170G>T rs892707408 0.00013
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=) rs144866585 0.00013
NM_000428.3(LTBP2):c.21C>G (p.Ala7=) rs757559806 0.00013
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_030957.4(ADAMTS10):c.*36T>C rs782348033 0.00013
NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=) rs367671600 0.00013
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959 0.00013
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955 0.00013
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His) rs201503183 0.00013
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp) rs147534770 0.00012
NM_139057.4(ADAMTS17):c.*611C>T rs906820389 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His) rs75200417 0.00011
NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile) rs139734678 0.00011
NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser) rs199581921 0.00011
NM_030957.4(ADAMTS10):c.1149C>T (p.Gly383=) rs373993156 0.00011
NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=) rs148493665 0.00011
NM_139057.4(ADAMTS17):c.*2234G>C rs1040541256 0.00011
NM_139057.4(ADAMTS17):c.*2480G>A rs573353500 0.00011
NM_139057.4(ADAMTS17):c.*359A>G rs150430121 0.00011
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581 0.00011
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met) rs371570653 0.00011
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) rs562333691 0.00010
NM_139057.4(ADAMTS17):c.*1288C>T rs902901073 0.00010
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147 0.00010
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990 0.00010
NM_139057.4(ADAMTS17):c.*2425G>A rs868757417 0.00010
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=) rs565893965 0.00010
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256 0.00010
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser) rs1042212825 0.00010
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415 0.00010
NM_000138.5(FBN1):c.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr) rs368195399 0.00009
NM_030957.4(ADAMTS10):c.1085-10G>A rs374055293 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=) rs782638735 0.00009
NM_139057.4(ADAMTS17):c.*2185G>C rs540201674 0.00009
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210 0.00009
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) rs763990884 0.00008
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=) rs61738022 0.00008
NM_030957.4(ADAMTS10):c.*311A>G rs1045796093 0.00008
NM_139057.4(ADAMTS17):c.*421G>C rs886050968 0.00008
NM_139057.4(ADAMTS17):c.789+15G>A rs374137320 0.00008
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023 0.00008
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000428.3(LTBP2):c.*2026T>C rs886050748 0.00007
NM_000428.3(LTBP2):c.-64C>T rs886050762 0.00007
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) rs773927709 0.00007
NM_000428.3(LTBP2):c.2908+9C>T rs1004486722 0.00007
NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe) rs150855472 0.00007
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=) rs183691340 0.00007
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu) rs201356815 0.00007
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741 0.00007
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000428.3(LTBP2):c.*1743C>T rs781717691 0.00006
NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg) rs776552082 0.00006
NM_000428.3(LTBP2):c.989C>T (p.Ala330Val) rs780864087 0.00006
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=) rs371013844 0.00006
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp) rs147270233 0.00006
NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp) rs199972750 0.00006
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954 0.00006
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952 0.00006
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950 0.00006
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg) rs145156568 0.00006
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195 0.00006
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799 0.00006
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=) rs374725364 0.00006
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579 0.00006
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581 0.00006
NM_000138.5(FBN1):c.-123C>A rs1004900313 0.00005
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126 0.00005
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655 0.00005
NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys) rs769155905 0.00005
NM_000428.3(LTBP2):c.4178-6G>A rs551478195 0.00005
NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met) rs189020867 0.00005
NM_030957.4(ADAMTS10):c.3043-8C>T rs759098979 0.00005
NM_139057.4(ADAMTS17):c.*1507G>A rs534291888 0.00005
NM_139057.4(ADAMTS17):c.*2289A>G rs945247732 0.00005
NM_139057.4(ADAMTS17):c.*802G>A rs571008658 0.00005
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=) rs758555346 0.00005
NM_139057.4(ADAMTS17):c.2950-6C>T rs1447997408 0.00005
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu) rs764391097 0.00005
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000428.3(LTBP2):c.*929A>G rs1175589944 0.00004
NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr) rs925483356 0.00004
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=) rs537908823 0.00004
NM_000428.3(LTBP2):c.3278-15G>A rs201661499 0.00004
NM_000428.3(LTBP2):c.607C>T (p.Arg203Cys) rs777450651 0.00004
NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu) rs557904436 0.00004
NM_030957.4(ADAMTS10):c.*209C>T rs1471058531 0.00004
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950 0.00004
NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=) rs557374103 0.00004
NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=) rs1285176283 0.00004
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119 0.00004
NM_139057.4(ADAMTS17):c.*856C>T rs549608045 0.00004
NM_139057.4(ADAMTS17):c.-7G>A rs371479108 0.00004
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714 0.00004
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=) rs753804023 0.00004
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950 0.00004
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys) rs202106289 0.00004
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn) rs551851234 0.00004
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=) rs756729691 0.00003
NM_000428.3(LTBP2):c.1972C>T (p.Arg658Trp) rs180947562 0.00003
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862 0.00003
NM_000428.3(LTBP2):c.3606G>T (p.Leu1202=) rs373253770 0.00003
NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys) rs747333533 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=) rs137871407 0.00003
NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=) rs1194291909 0.00003
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=) rs764652187 0.00003
NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val) rs1435761349 0.00003
NM_030957.4(ADAMTS10):c.*411C>T rs886054707 0.00003
NM_030957.4(ADAMTS10):c.-143G>C rs886054716 0.00003
NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=) rs782096562 0.00003
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=) rs145420448 0.00003
NM_030957.4(ADAMTS10):c.2034+11C>T rs116541830 0.00003
NM_030957.4(ADAMTS10):c.592+8G>A rs201882173 0.00003
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960 0.00003
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506 0.00003
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953 0.00003
NM_139057.4(ADAMTS17):c.*639G>A rs886050965 0.00003
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848 0.00003
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=) rs767077707 0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980 0.00003
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843 0.00003
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=) rs900832969 0.00003
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976 0.00003
NM_000138.5(FBN1):c.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000428.3(LTBP2):c.*1170A>G rs886050749 0.00002
NM_000428.3(LTBP2):c.*1481C>T rs527271189 0.00002
NM_000428.3(LTBP2):c.*609A>C rs1323555762 0.00002
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611 0.00002
NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser) rs775487511 0.00002
NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser) rs759870336 0.00002
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755 0.00002
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754 0.00002
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775 0.00002
NM_030957.4(ADAMTS10):c.1085-5C>T rs781831794 0.00002
NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp) rs375444463 0.00002
NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=) rs149014496 0.00002
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr) rs782053556 0.00002
NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly) rs187757286 0.00002
NM_139057.4(ADAMTS17):c.*200G>A rs548191022 0.00002
NM_139057.4(ADAMTS17):c.*2115C>A rs769848171 0.00002
NM_139057.4(ADAMTS17):c.*465G>A rs886050967 0.00002
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669 0.00002
NM_139057.4(ADAMTS17):c.2017-10G>C rs765531556 0.00002
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792 0.00002
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4336+11G>A rs886051249 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000428.3(LTBP2):c.*1776C>T rs1378655630 0.00001
NM_000428.3(LTBP2):c.*206C>T rs192723743 0.00001
NM_000428.3(LTBP2):c.*2112G>A rs949885665 0.00001
NM_000428.3(LTBP2):c.-21A>G rs765474184 0.00001
NM_000428.3(LTBP2):c.-46G>C rs886050761 0.00001
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His) rs759632617 0.00001
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693 0.00001
NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln) rs757892170 0.00001
NM_000428.3(LTBP2):c.2082G>A (p.Gln694=) rs757918162 0.00001
NM_000428.3(LTBP2):c.2449A>G (p.Met817Val) rs2087256544 0.00001
NM_000428.3(LTBP2):c.246G>A (p.Leu82=) rs748744542 0.00001
NM_000428.3(LTBP2):c.249G>A (p.Gln83=) rs779279335 0.00001
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154 0.00001
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000428.3(LTBP2):c.2788+15C>G rs376663839 0.00001
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893 0.00001
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) rs757843416 0.00001
NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg) rs760459796 0.00001
NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=) rs767484358 0.00001
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His) rs201598003 0.00001
NM_000428.3(LTBP2):c.4370-14G>A rs750045564 0.00001
NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg) rs769745393 0.00001
NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu) rs1469851587 0.00001
NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg) rs549156119 0.00001
NM_000428.3(LTBP2):c.713G>A (p.Arg238His) rs943163124 0.00001
NM_000428.3(LTBP2):c.970A>C (p.Arg324=) rs372209109 0.00001
NM_030957.4(ADAMTS10):c.*330A>T rs1302375936 0.00001
NM_030957.4(ADAMTS10):c.*563C>A rs1426786259 0.00001
NM_030957.4(ADAMTS10):c.-233G>T rs1379274351 0.00001
NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=) rs1555740123 0.00001
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=) rs886054715 0.00001
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr) rs782712334 0.00001
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) rs886054714 0.00001
NM_030957.4(ADAMTS10):c.2239+10T>C rs782597342 0.00001
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=) rs886054712 0.00001
NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser) rs373876511 0.00001
NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys) rs782396164 0.00001
NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu) rs782497547 0.00001
NM_139057.4(ADAMTS17):c.*111C>T rs886050971 0.00001
NM_139057.4(ADAMTS17):c.*1348dup rs545574106 0.00001
NM_139057.4(ADAMTS17):c.*261G>A rs886050970 0.00001
NM_139057.4(ADAMTS17):c.*805G>A rs889232446 0.00001
NM_139057.4(ADAMTS17):c.*850C>T rs886050964 0.00001
NM_139057.4(ADAMTS17):c.-4T>C rs886050984 0.00001
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly) rs1442746480 0.00001
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=) rs558036408 0.00001
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=) rs1450190162 0.00001
NM_139057.4(ADAMTS17):c.1075+10G>C rs943576519 0.00001
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459 0.00001
NM_139057.4(ADAMTS17):c.1323-11G>A rs74442617 0.00001
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198 0.00001
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu) rs200960936 0.00001
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329 0.00001
NM_139057.4(ADAMTS17):c.1888+9A>C rs201219446 0.00001
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110 0.00001
NM_139057.4(ADAMTS17):c.2017-3T>C rs760792591 0.00001
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221 0.00001
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=) rs763171758 0.00001
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=) rs777524361 0.00001
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=) rs746354760 0.00001
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973 0.00001
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu) rs1375656495 0.00001
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002 0.00001
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=) rs1360871464 0.00001
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978 0.00001
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977 0.00001
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-108G>A rs1029606067
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.-70C>A rs886051253
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000428.3(LTBP2):c.*1029G>A rs2086890935
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.*1302G>A rs191692241
NM_000428.3(LTBP2):c.*1302G>C rs191692241
NM_000428.3(LTBP2):c.*1393T>C rs2086887490
NM_000428.3(LTBP2):c.*147A>T rs886050753
NM_000428.3(LTBP2):c.*1518_*1520dup rs565536636
NM_000428.3(LTBP2):c.*1777A>G rs1419112516
NM_000428.3(LTBP2):c.*2236C>T rs753803515
NM_000428.3(LTBP2):c.*2266G>A rs886050747
NM_000428.3(LTBP2):c.*233A>G rs886050752
NM_000428.3(LTBP2):c.*2353T>C rs552983028
NM_000428.3(LTBP2):c.*2419C>T rs1595233261
NM_000428.3(LTBP2):c.*316C>G rs957387729
NM_000428.3(LTBP2):c.*373A>G rs886050751
NM_000428.3(LTBP2):c.*384G>C rs2086896920
NM_000428.3(LTBP2):c.*397C>A rs2086896748
NM_000428.3(LTBP2):c.*638T>G rs886050750
NM_000428.3(LTBP2):c.*742C>T rs913148674
NM_000428.3(LTBP2):c.-222C>G rs886050764
NM_000428.3(LTBP2):c.-33C>A rs886050760
NM_000428.3(LTBP2):c.-97C>T rs886050763
NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser) rs987914104
NM_000428.3(LTBP2):c.1382C>G (p.Pro461Arg) rs765689019
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2388+8C>G rs201838800
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp) rs200532538
NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp) rs2087004341
NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg) rs578210394
NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu) rs773510546
NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=) rs372981316
NM_000428.3(LTBP2):c.804G>A (p.Pro268=) rs139052892
NM_030957.4(ADAMTS10):c.*157G>A rs2042332746
NM_030957.4(ADAMTS10):c.*322C>T rs886054708
NM_030957.4(ADAMTS10):c.*447G>T rs1385837919
NM_030957.4(ADAMTS10):c.*456del rs34057037
NM_030957.4(ADAMTS10):c.*456dup rs34057037
NM_030957.4(ADAMTS10):c.*47A>G rs905913217
NM_030957.4(ADAMTS10):c.*578C>A rs2042325419
NM_030957.4(ADAMTS10):c.*81G>C rs886054709
NM_030957.4(ADAMTS10):c.*81G>T rs886054709
NM_030957.4(ADAMTS10):c.*85dup rs576948646
NM_030957.4(ADAMTS10):c.-99-7C>G rs907764817
NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg) rs1555742346
NM_030957.4(ADAMTS10):c.1480-4G>T rs368465218
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met) rs782308360
NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg) rs1216168299
NM_030957.4(ADAMTS10):c.1797+11C>A rs2042533385
NM_030957.4(ADAMTS10):c.1901-13C>A rs782114199
NM_030957.4(ADAMTS10):c.198C>T (p.Arg66=) rs149789969
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu) rs144596955
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=) rs886054713
NM_030957.4(ADAMTS10):c.2404-9T>C rs2042432536
NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=) rs1555742491
NM_030957.4(ADAMTS10):c.2530+9G>A rs782625211
NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=) rs2042706336
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=) rs886054711
NM_030957.4(ADAMTS10):c.3202+13C>T rs886054710
NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro) rs782581897
NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu) rs781891774
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1213G>C rs982642681
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1278A>G rs2060245859
NM_139057.4(ADAMTS17):c.*1431TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1642G>A rs577902130
NM_139057.4(ADAMTS17):c.*1708G>C rs769909152
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T rs760184660
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*2013T>A rs2727194
NM_139057.4(ADAMTS17):c.*2015T>C rs956479865
NM_139057.4(ADAMTS17):c.*2142GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2172T>C rs191191512
NM_139057.4(ADAMTS17):c.*2186T>C rs943727216
NM_139057.4(ADAMTS17):c.*2196C>T rs528240967
NM_139057.4(ADAMTS17):c.*221G>A rs1286406738
NM_139057.4(ADAMTS17):c.*2290C>T rs374783295
NM_139057.4(ADAMTS17):c.*2292C>T rs371938855
NM_139057.4(ADAMTS17):c.*2305T>C rs2060219977
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2472C>G rs138099553
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2501C>T rs2060214433
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2600C>T rs2060211133
NM_139057.4(ADAMTS17):c.*260C>T rs747343009
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2652A>T rs994363579
NM_139057.4(ADAMTS17):c.*2678T>G rs2060208704
NM_139057.4(ADAMTS17):c.*2738G>C rs535694449
NM_139057.4(ADAMTS17):c.*290C>A rs1016206521
NM_139057.4(ADAMTS17):c.*2934G>T rs1241129749
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*376T>G rs2060267332
NM_139057.4(ADAMTS17):c.*481G>A rs1046788827
NM_139057.4(ADAMTS17):c.*498A>T rs2573651
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*620T>C rs1164434838
NM_139057.4(ADAMTS17):c.*857G>A rs552737711
NM_139057.4(ADAMTS17):c.*901G>A rs962309056
NM_139057.4(ADAMTS17):c.*963C>T rs563070394
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-20G>A rs569251254
NM_139057.4(ADAMTS17):c.-20G>C rs569251254
NM_139057.4(ADAMTS17):c.-37C>T rs1419969888
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=) rs958960649
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met) rs1244171699
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg) rs770984984
NM_139057.4(ADAMTS17):c.2138-13A>G rs2032359159
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr) rs946108501
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.2295+3A>G
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser) rs770794109
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu) rs144007074
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg) rs545996605
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg) rs201676815
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2592-9G>T rs373353462
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=) rs139105066
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys) rs149434438
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=) rs1426438937
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=) rs1596563056
NM_139057.4(ADAMTS17):c.79+3A>C rs2046376517
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983

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