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_000428.3(LTBP2):c.807C>T (p.Pro269=)
|
rs61738024
|
0.00219
|
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_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_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_000428.3(LTBP2):c.-55G>A
|
rs571506111
|
0.00109
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_000428.3(LTBP2):c.*2569G>A
|
rs531824728
|
0.00094
|
NM_000428.3(LTBP2):c.*743G>A
|
rs541978964
|
0.00092
|
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu)
|
rs149952751
|
0.00082
|
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_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=)
|
rs150055188
|
0.00061
|
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_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_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_000428.3(LTBP2):c.*229C>T
|
rs141989493
|
0.00038
|
NM_030957.4(ADAMTS10):c.303C>T (p.His101=)
|
rs141630862
|
0.00035
|
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=)
|
rs113219139
|
0.00034
|
NM_000428.3(LTBP2):c.1789+7G>A
|
rs200259519
|
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_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_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_030957.4(ADAMTS10):c.*356G>A
|
rs141523849
|
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_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_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_000428.3(LTBP2):c.568G>A (p.Val190Ile)
|
rs558742251
|
0.00019
|
NM_030957.4(ADAMTS10):c.-60G>A
|
rs573082154
|
0.00017
|
NM_000428.3(LTBP2):c.*55G>A
|
rs185374765
|
0.00016
|
NM_030957.4(ADAMTS10):c.-153G>A
|
rs568567704
|
0.00014
|
NM_000428.3(LTBP2):c.-170G>T
|
rs892707408
|
0.00013
|
NM_000428.3(LTBP2):c.-64C>T
|
rs886050762
|
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_000428.3(LTBP2):c.1612C>T (p.Arg538Trp)
|
rs147534770
|
0.00012
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
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_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00010
|
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=)
|
rs562333691
|
0.00010
|
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His)
|
rs370179236
|
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.2415G>A (p.Arg805=)
|
rs782638735
|
0.00009
|
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=)
|
rs61738022
|
0.00008
|
NM_030957.4(ADAMTS10):c.*311A>G
|
rs1045796093
|
0.00008
|
NM_000428.3(LTBP2):c.*2026T>C
|
rs886050748
|
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_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00006
|
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.*1180C>T
|
rs576929018
|
0.00006
|
NM_000428.3(LTBP2):c.*1743C>T
|
rs781717691
|
0.00006
|
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=)
|
rs763990884
|
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_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_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_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.*2556G>A
|
rs886051221
|
0.00003
|
NM_000138.5(FBN1):c.*845C>T
|
rs1022238055
|
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_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_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_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
|
|