ClinVar Miner

List of variants studied for Marfan syndrome by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1497
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.645A>C (p.Arg215=) rs200062771 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.2187A>C (p.Leu729=) rs61730055 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=) rs140178192 0.00025
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=) rs142304692 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_003242.6(TGFBR2):c.678C>T (p.Asp226=) rs147111149 0.00019
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.76G>C (p.Asp26His) rs146267697 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=) rs374705586 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_003242.6(TGFBR2):c.747G>C (p.Leu249=) rs772907386 0.00014
NM_000138.5(FBN1):c.4748-12T>A rs368723745 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=) rs112987543 0.00012
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.1838-6C>T rs374629233 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_003242.6(TGFBR2):c.1356G>T (p.Leu452=) rs997766869 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_000138.5(FBN1):c.2232G>C (p.Gly744=) rs762745991 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val) rs772795413 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_000138.5(FBN1):c.2079G>A (p.Gly693=) rs374174497 0.00008
NM_000138.5(FBN1):c.2294-14C>G rs201446948 0.00008
NM_000138.5(FBN1):c.2928C>T (p.Arg976=) rs761997019 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=) rs151232024 0.00008
NM_000138.5(FBN1):c.6038-15_6038-14del rs752198920 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_000138.5(FBN1):c.1363T>C (p.Leu455=) rs557954342 0.00007
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.2772C>T (p.Gly924=) rs539699143 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=) rs397515832 0.00007
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=) rs753282415 0.00007
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.1961-14T>C rs373918202 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.273T>C (p.Asp91=) rs375450755 0.00006
NM_000138.5(FBN1):c.2793G>T (p.Gly931=) rs775785545 0.00006
NM_000138.5(FBN1):c.2835C>T (p.Ala945=) rs140389544 0.00006
NM_000138.5(FBN1):c.2901C>T (p.Cys967=) rs755610084 0.00006
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) rs564713154 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=) rs753705796 0.00006
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=) rs368979510 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 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_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.570C>T (p.Arg190=) rs143775631 0.00006
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp) rs55751315 0.00006
NM_000138.5(FBN1):c.1272A>G (p.Gln424=) rs763710172 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) rs770860280 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) rs794727601 0.00005
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=) rs372386014 0.00005
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys) rs769589759 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=) rs765772116 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=) rs199887650 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) rs761400349 0.00005
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser) rs363855 0.00004
NM_000138.5(FBN1):c.1116C>T (p.Val372=) rs774193938 0.00004
NM_000138.5(FBN1):c.1242T>G (p.Pro414=) rs371929738 0.00004
NM_000138.5(FBN1):c.1290A>G (p.Pro430=) rs749526018 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2168-6G>A rs200924505 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg) rs557798071 0.00004
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=) rs138855754 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.347-15T>C rs749417882 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg) rs777826174 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) rs375402043 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=) rs141633998 0.00004
NM_000138.5(FBN1):c.4337-9C>T rs201001403 0.00004
NM_000138.5(FBN1):c.4371C>T (p.Val1457=) rs781641370 0.00004
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 0.00004
NM_000138.5(FBN1):c.492T>C (p.Asn164=) rs778007582 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5656C>G (p.Gln1886Glu) rs1038114901 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser) rs375939213 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00004
NM_000138.5(FBN1):c.7700-13G>C rs775509707 0.00004
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=) rs371285755 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.126C>T (p.Asn42=) rs574133875 0.00004
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.1569C>T (p.His523=) rs760107571 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.609C>T (p.Thr203=) rs769938385 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_000138.5(FBN1):c.1158C>T (p.Asn386=) rs368737502 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2142G>A (p.Gly714=) rs1423523072 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=) rs757177349 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=) rs756186103 0.00003
NM_000138.5(FBN1):c.4337-5C>G rs370959127 0.00003
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=) rs756143911 0.00003
NM_000138.5(FBN1):c.4460-9C>T rs372753740 0.00003
NM_000138.5(FBN1):c.4583-11A>G rs780024463 0.00003
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=) rs933962712 0.00003
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=) rs761947423 0.00003
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=) rs747757998 0.00003
NM_000138.5(FBN1):c.5066-7C>G rs377369765 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=) rs947248042 0.00003
NM_000138.5(FBN1):c.5517C>T (p.Tyr1839=) rs750667880 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val) rs746719632 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=) rs146930301 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=) rs774341590 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) rs374630707 0.00003
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=) rs182358927 0.00003
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser) rs1397580172 0.00003
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=) rs539185798 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=) rs771873118 0.00003
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=) rs374499193 0.00003
NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=) rs376815143 0.00003
NM_003242.6(TGFBR2):c.276C>T (p.Asp92=) rs774840447 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.708C>T (p.Asn236=) rs141554621 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_000138.5(FBN1):c.1220G>A (p.Gly407Asp) rs758241018 0.00002
NM_000138.5(FBN1):c.1370G>A (p.Arg457His) rs141217134 0.00002
NM_000138.5(FBN1):c.1468+4C>T rs765579667 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1566A>G (p.Thr522=) rs531264662 0.00002
NM_000138.5(FBN1):c.1961-7T>C rs878853675 0.00002
NM_000138.5(FBN1):c.19C>T (p.Leu7=) rs139161583 0.00002
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2154G>A (p.Thr718=) rs377033515 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2502T>A (p.Ser834=) rs754372754 0.00002
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.2854+5A>G rs762989672 0.00002
NM_000138.5(FBN1):c.2855-10C>T rs1044021136 0.00002
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val) rs766660415 0.00002
NM_000138.5(FBN1):c.2949C>T (p.Ser983=) rs769307676 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys) rs780301913 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val) rs2229324 0.00002
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064 0.00002
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly) rs749255004 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=) rs748759748 0.00002
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=) rs777442762 0.00002
NM_000138.5(FBN1):c.346+6T>G rs371159129 0.00002
NM_000138.5(FBN1):c.3504T>C (p.Asn1168=) rs768688637 0.00002
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=) rs775417975 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.4337-3A>C rs770551687 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His) rs397515808 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.4665T>C (p.Val1555=) rs191569116 0.00002
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=) rs143544916 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu) rs758600004 0.00002
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln) rs780993677 0.00002
NM_000138.5(FBN1):c.5423-5C>T rs368750818 0.00002
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=) rs753966383 0.00002
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys) rs567397762 0.00002
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr) rs776999627 0.00002
NM_000138.5(FBN1):c.5918-12T>G rs751115639 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg) rs748358548 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=) rs766473100 0.00002
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=) rs974604498 0.00002
NM_000138.5(FBN1):c.62C>T (p.Thr21Met) rs1489806847 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=) rs147342485 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164 0.00002
NM_000138.5(FBN1):c.6872-12A>G rs568325297 0.00002
NM_000138.5(FBN1):c.6998-7C>T rs764823572 0.00002
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn) rs775558051 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=) rs759021474 0.00002
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=) rs758353830 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=) rs372105662 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln) rs748327743 0.00002
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu) rs775505429 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn) rs571906167 0.00002
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=) rs767060377 0.00002
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro) rs149929989 0.00002
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1048C>T (p.Leu350=) rs755843367 0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813 0.00002
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=) rs757158964 0.00002
NM_003242.6(TGFBR2):c.1407T>C (p.Asp469=) rs573025864 0.00002
NM_003242.6(TGFBR2):c.1476G>A (p.Leu492=) rs1006428695 0.00002
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_000138.5(FBN1):c.-7C>T rs752581747 0.00001
NM_000138.5(FBN1):c.1026C>T (p.Asn342=) rs769282306 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe) rs1191931914 0.00001
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr) rs766162654 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1131T>C (p.Cys377=) rs769211348 0.00001
NM_000138.5(FBN1):c.1146C>T (p.Thr382=) rs889875676 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala) rs749467972 0.00001
NM_000138.5(FBN1):c.1177A>G (p.Met393Val) rs983129867 0.00001
NM_000138.5(FBN1):c.1215C>A (p.Pro405=) rs1213208601 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.1368C>G (p.Val456=) rs1433264110 0.00001
NM_000138.5(FBN1):c.13C>T (p.Arg5Cys) rs759323371 0.00001
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp) rs767068276 0.00001
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) rs371985966 0.00001
NM_000138.5(FBN1):c.1460A>C (p.Glu487Ala) rs763431921 0.00001
NM_000138.5(FBN1):c.1494C>T (p.Pro498=) rs765595961 0.00001
NM_000138.5(FBN1):c.149A>T (p.His50Leu) rs886039132 0.00001
NM_000138.5(FBN1):c.1560G>C (p.Gln520His) rs143253318 0.00001
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.15T>C (p.Arg5=) rs1371787168 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val) rs759813328 0.00001
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr) rs112269822 0.00001
NM_000138.5(FBN1):c.165-7G>A rs397515761 0.00001
NM_000138.5(FBN1):c.1653C>T (p.Gly551=) rs766565738 0.00001
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val) rs141551765 0.00001
NM_000138.5(FBN1):c.1715-14T>G rs753746089 0.00001
NM_000138.5(FBN1):c.174C>A (p.Val58=) rs369096927 0.00001
NM_000138.5(FBN1):c.1776C>G (p.Gly592=) rs759191650 0.00001
NM_000138.5(FBN1):c.1779T>C (p.Ser593=) rs372195702 0.00001
NM_000138.5(FBN1):c.181T>C (p.Ser61Pro) rs1166519673 0.00001
NM_000138.5(FBN1):c.1826G>A (p.Arg609His) rs770393471 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp) rs794728180 0.00001
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp) rs1238689648 0.00001
NM_000138.5(FBN1):c.1977C>T (p.Ser659=) rs750118053 0.00001
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu) rs1436966674 0.00001
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser) rs766346620 0.00001
NM_000138.5(FBN1):c.2058C>A (p.Ala686=) rs759859967 0.00001
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg) rs769708437 0.00001
NM_000138.5(FBN1):c.2106G>T (p.Gln702His) rs778835898 0.00001
NM_000138.5(FBN1):c.2115G>A (p.Ala705=) rs932764622 0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2349T>C (p.Asn783=) rs1057522903 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2577T>C (p.Asp859=) rs779997664 0.00001
NM_000138.5(FBN1):c.2598C>T (p.Ile866=) rs752457534 0.00001
NM_000138.5(FBN1):c.2634C>T (p.Ser878=) rs770395971 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr) rs1488064078 0.00001
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg) rs778951277 0.00001
NM_000138.5(FBN1):c.2748G>A (p.Val916=) rs1339922695 0.00001
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser) rs1220842179 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu) rs922684362 0.00001
NM_000138.5(FBN1):c.285G>A (p.Ser95=) rs745596276 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=) rs772108557 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 0.00001
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=) rs764203356 0.00001
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3209-3C>A rs397515787 0.00001
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val) rs990134651 0.00001
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn) rs778867355 0.00001
NM_000138.5(FBN1):c.3340A>G (p.Ile1114Val) rs1006702602 0.00001
NM_000138.5(FBN1):c.3368T>A (p.Leu1123Gln) rs201336778 0.00001
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser) rs1437464599 0.00001
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg) rs777727844 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.3464-3C>T rs770992241 0.00001
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=) rs778312047 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu) rs1057520181 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu) rs150912619 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=) rs760712674 0.00001
NM_000138.5(FBN1):c.365G>A (p.Arg122His) rs1010750845 0.00001
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu) rs775532488 0.00001
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) rs573187346 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr) rs993279983 0.00001
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser) rs140647 0.00001
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly) rs1655998227 0.00001
NM_000138.5(FBN1):c.393C>T (p.Asp131=) rs549054625 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile) rs1416288007 0.00001
NM_000138.5(FBN1):c.4014A>G (p.Val1338=) rs763716418 0.00001
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr) rs1373690375 0.00001
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=) rs766969494 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=) rs886038250 0.00001
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=) rs751099175 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=) rs1332403498 0.00001
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=) rs759712586 0.00001
NM_000138.5(FBN1):c.4233C>T (p.Asn1411=) rs183198761 0.00001
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=) rs1187173937 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=) rs748551052 0.00001
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=) rs747377334 0.00001
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=) rs767462642 0.00001
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser) rs780624885 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=) rs772727859 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4530C>T (p.Ile1510=) rs772526144 0.00001
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln) rs201546777 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser) rs1254024310 0.00001
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln) rs753491504 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4748-9T>C rs760640909 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His) rs756227025 0.00001
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser) rs767451077 0.00001
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln) rs768366890 0.00001
NM_000138.5(FBN1):c.4943-3T>C rs367594261 0.00001
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln) rs1060501079 0.00001
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=) rs1267512714 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5103T>G (p.Ala1701=) rs1163353168 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=) rs754660497 0.00001
NM_000138.5(FBN1):c.5268C>A (p.Val1756=) rs764685311 0.00001
NM_000138.5(FBN1):c.5280T>C (p.Tyr1760=) rs730880103 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile) rs2043270857 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=) rs766501385 0.00001
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe) rs1232797551 0.00001
NM_000138.5(FBN1):c.5413G>A (p.Val1805Ile) rs745636786 0.00001
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=) rs765338162 0.00001
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser) rs775463311 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His) rs764203302 0.00001
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=) rs372767912 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys) rs750720912 0.00001
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His) rs779174265 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val) rs367586350 0.00001
NM_000138.5(FBN1):c.5649T>C (p.Asn1883=) rs1192296578 0.00001
NM_000138.5(FBN1):c.5738A>G (p.Asn1913Ser) rs749606552 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp) rs1060501097 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=) rs755825254 0.00001
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) rs767097888 0.00001
NM_000138.5(FBN1):c.5856G>A (p.Gly1952=) rs763490270 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu) rs895824095 0.00001
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=) rs201346996 0.00001
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser) rs921321822 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn) rs768457461 0.00001
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=) rs1397665480 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys) rs1219570062 0.00001
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=) rs1478813051 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.6417T>C (p.His2139=) rs551162566 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln) rs753703844 0.00001
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys) rs777877864 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6496+3G>A rs750222196 0.00001
NM_000138.5(FBN1):c.6497-12G>C rs369726558 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser) rs770132403 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=) rs1260533788 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6768T>C (p.His2256=) rs1047633779 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) rs141868829 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=) rs397515843 0.00001
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=) rs1597517953 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=) rs767903343 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=) rs769588855 0.00001
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser) rs1252037822 0.00001
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=) rs144713268 0.00001
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met) rs763759308 0.00001
NM_000138.5(FBN1):c.756C>T (p.Ala252=) rs1398534692 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=) rs1392530685 0.00001
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=) rs1388794275 0.00001
NM_000138.5(FBN1):c.762C>T (p.Pro254=) rs374318726 0.00001
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=) rs1409771185 0.00001
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg) rs781113082 0.00001
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=) rs1184032259 0.00001
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met) rs138558987 0.00001
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=) rs756093148 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=) rs764526450 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr) rs746859988 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=) rs745524158 0.00001
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00001
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser) rs745650955 0.00001
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=) rs1208510012 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) rs762276905 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) rs794728340 0.00001
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=) rs1372383251 0.00001
NM_000138.5(FBN1):c.8200A>G (p.Asn2734Asp) rs757532651 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.827G>T (p.Gly276Val) rs534859193 0.00001
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=) rs1417594908 0.00001
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=) rs112945086 0.00001
NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln) rs794728286 0.00001
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=) rs147279938 0.00001
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly) rs376933421 0.00001
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His) rs1306203757 0.00001
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe) rs755903722 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.855A>G (p.Lys285=) rs1272913373 0.00001
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=) rs1566888537 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala) rs758035051 0.00001
NM_000138.5(FBN1):c.963C>T (p.Thr321=) rs767914958 0.00001
NM_000138.5(FBN1):c.968C>T (p.Pro323Leu) rs1183175645 0.00001
NM_000138.5(FBN1):c.969A>G (p.Pro323=) rs759743242 0.00001
NM_000138.5(FBN1):c.987A>G (p.Ile329Met) rs1289726476 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1173A>G (p.Leu391=) rs1013308477 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1210C>T (p.Leu404=) rs1253996257 0.00001
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met) rs770352403 0.00001
NM_003242.6(TGFBR2):c.1293A>G (p.Glu431=) rs774384466 0.00001
NM_003242.6(TGFBR2):c.1314T>C (p.Asn438=) rs772490613 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1482T>C (p.Asp494=) rs757583727 0.00001
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser) rs780087626 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1644G>A (p.Ser548=) rs781309781 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.1656C>T (p.Cys552=) rs756434427 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.1659G>A (p.Ser553=) rs771926828 0.00001
NM_003242.6(TGFBR2):c.1668G>A (p.Lys556=) rs779923854 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.486A>G (p.Leu162=) rs761927882 0.00001
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=) rs139456857 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln) rs748437880 0.00001
NM_003242.6(TGFBR2):c.594T>C (p.Ser198=) rs886038945 0.00001
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp) rs775640617 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 0.00001
NM_003242.6(TGFBR2):c.666T>C (p.Asp222=) rs755404252 0.00001
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys) rs748195637 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.705C>T (p.Ile235=) rs1699345595 0.00001
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val) rs761231369 0.00001
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys) rs767919854 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys) rs1210616464 0.00001
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=) rs754003334 0.00001
NM_003242.6(TGFBR2):c.95-10C>G rs952006496 0.00001
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala) rs754785934 0.00001
NM_000138.5(FBN1):c.-12C>T
NM_000138.5(FBN1):c.1029G>T (p.Gly343=) rs75655780
NM_000138.5(FBN1):c.102G>C (p.Val34=)
NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg) rs794728163
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
NM_000138.5(FBN1):c.1070A>T (p.Gln357Leu)
NM_000138.5(FBN1):c.1071G>A (p.Gln357=)
NM_000138.5(FBN1):c.1091G>C (p.Arg364Pro) rs536588176
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
NM_000138.5(FBN1):c.1114G>A (p.Val372Ile)
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
NM_000138.5(FBN1):c.1141G>A (p.Ala381Thr)
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
NM_000138.5(FBN1):c.1148-16del
NM_000138.5(FBN1):c.1149G>A (p.Glu383=)
NM_000138.5(FBN1):c.1155C>T (p.Phe385=)
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1160del (p.Lys387fs)
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.116C>A (p.Ala39Asp)
NM_000138.5(FBN1):c.116C>G (p.Ala39Gly)
NM_000138.5(FBN1):c.1174C>A (p.Pro392Thr)
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg) rs534127494
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala) rs886039155
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln) rs779930519
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.1216C>A (p.Leu406Ile)
NM_000138.5(FBN1):c.121C>G (p.Arg41Gly) rs1158441291
NM_000138.5(FBN1):c.1222C>T (p.Pro408Ser)
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
NM_000138.5(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1278G>T (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu) rs368089138
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr) rs766081333
NM_000138.5(FBN1):c.12G>T (p.Gly4=)
NM_000138.5(FBN1):c.1305G>T (p.Leu435=) rs769895864
NM_000138.5(FBN1):c.1311A>G (p.Pro437=) rs1253494702
NM_000138.5(FBN1):c.1315C>A (p.Arg439=)
NM_000138.5(FBN1):c.1315C>T (p.Arg439Trp)
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys) rs1890259213
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser) rs1890259134
NM_000138.5(FBN1):c.1333C>T (p.Leu445=)
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly) rs1597652333
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys) rs2141330047
NM_000138.5(FBN1):c.140G>A (p.Gly47Asp)
NM_000138.5(FBN1):c.1454G>A (p.Arg485His)
NM_000138.5(FBN1):c.1458G>A (p.Gly486=)
NM_000138.5(FBN1):c.1469-10T>C
NM_000138.5(FBN1):c.1469-5T>G rs1060504144
NM_000138.5(FBN1):c.146G>T (p.Gly49Val)
NM_000138.5(FBN1):c.1474G>A (p.Asp492Asn)
NM_000138.5(FBN1):c.1486A>G (p.Lys496Glu)
NM_000138.5(FBN1):c.1504G>C (p.Gly502Arg)
NM_000138.5(FBN1):c.1506T>C (p.Gly502=) rs770426679
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1530G>C (p.Ser510=)
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu) rs1057524406
NM_000138.5(FBN1):c.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.156G>A (p.Ala52=)
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1582T>A (p.Cys528Ser)
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589-8G>T rs779629563
NM_000138.5(FBN1):c.1592T>G (p.Ile531Ser)
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
NM_000138.5(FBN1):c.160A>C (p.Lys54Gln)
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.162A>G (p.Lys54=) rs777116853
NM_000138.5(FBN1):c.1641C>G (p.Ile547Met)
NM_000138.5(FBN1):c.1657T>G (p.Phe553Val)
NM_000138.5(FBN1):c.1666G>A (p.Val556Met) rs1239988676
NM_000138.5(FBN1):c.1677G>A (p.Ala559=)
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
NM_000138.5(FBN1):c.1700G>A (p.Gly567Glu) rs768489747
NM_000138.5(FBN1):c.1714+4A>G rs1189850321
NM_000138.5(FBN1):c.1715-10G>T
NM_000138.5(FBN1):c.1715-9T>A rs1057520813
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr) rs2141321700
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
NM_000138.5(FBN1):c.1734A>G (p.Ile578Met)
NM_000138.5(FBN1):c.1743G>A (p.Met581Ile)
NM_000138.5(FBN1):c.1752T>A (p.Asn584Lys)
NM_000138.5(FBN1):c.1761T>C (p.Cys587=) rs1060504143
NM_000138.5(FBN1):c.1773T>A (p.Asp591Glu)
NM_000138.5(FBN1):c.1798C>G (p.Pro600Ala)
NM_000138.5(FBN1):c.1798C>T (p.Pro600Ser)
NM_000138.5(FBN1):c.179G>A (p.Gly60Glu)
NM_000138.5(FBN1):c.1803A>G (p.Gly601=)
NM_000138.5(FBN1):c.1813G>T (p.Ala605Ser)
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1838-4A>G
NM_000138.5(FBN1):c.1841T>C (p.Ile614Thr)
NM_000138.5(FBN1):c.1856C>T (p.Thr619Ile)
NM_000138.5(FBN1):c.1866C>T (p.Ile622=)
NM_000138.5(FBN1):c.187T>C (p.Tyr63His)
NM_000138.5(FBN1):c.1895A>G (p.Asp632Gly)
NM_000138.5(FBN1):c.1911T>C (p.Cys637=)
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
NM_000138.5(FBN1):c.1941G>C (p.Leu647=)
NM_000138.5(FBN1):c.1944T>C (p.Asp648=)
NM_000138.5(FBN1):c.1947C>T (p.Gly649=) rs2141317155
NM_000138.5(FBN1):c.1961-4T>C
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr) rs2043686451
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) rs794728181
NM_000138.5(FBN1):c.1979C>T (p.Thr660Ile)
NM_000138.5(FBN1):c.1992A>G (p.Gly664=)
NM_000138.5(FBN1):c.2006A>T (p.Gln669Leu)
NM_000138.5(FBN1):c.2025T>C (p.Phe675=)
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu)
NM_000138.5(FBN1):c.2064T>G (p.Thr688=)
NM_000138.5(FBN1):c.2071G>A (p.Ala691Thr)
NM_000138.5(FBN1):c.2085T>C (p.Pro695=) rs2141315721
NM_000138.5(FBN1):c.2102C>G (p.Ala701Gly)
NM_000138.5(FBN1):c.210A>G (p.Gly70=)
NM_000138.5(FBN1):c.2114-11A>C
NM_000138.5(FBN1):c.2114-7A>G
NM_000138.5(FBN1):c.2137A>G (p.Ser713Gly)
NM_000138.5(FBN1):c.2164A>G (p.Ser722Gly)
NM_000138.5(FBN1):c.2165G>A (p.Ser722Asn)
NM_000138.5(FBN1):c.2166T>G (p.Ser722Arg)
NM_000138.5(FBN1):c.2168-11T>A
NM_000138.5(FBN1):c.2168-11T>G
NM_000138.5(FBN1):c.2168-15T>G
NM_000138.5(FBN1):c.2168-15dup rs762586890
NM_000138.5(FBN1):c.2181T>C (p.Cys727=)
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.2232G>T (p.Gly744=) rs762745991
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2263G>A (p.Glu755Lys)
NM_000138.5(FBN1):c.2291T>C (p.Val764Ala)
NM_000138.5(FBN1):c.2294-5T>C
NM_000138.5(FBN1):c.2329G>C (p.Asp777His)
NM_000138.5(FBN1):c.2334T>C (p.Asn778=)
NM_000138.5(FBN1):c.2343T>C (p.Cys781=) rs199647257
NM_000138.5(FBN1):c.2350A>T (p.Thr784Ser)
NM_000138.5(FBN1):c.2441G>A (p.Ser814Asn) rs2043600469
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
NM_000138.5(FBN1):c.2478C>T (p.Gly826=)
NM_000138.5(FBN1):c.248-4A>G rs1597631751
NM_000138.5(FBN1):c.249C>A (p.Pro83=)
NM_000138.5(FBN1):c.24G>C (p.Glu8Asp)
NM_000138.5(FBN1):c.2508T>C (p.Ser836=) rs193922190
NM_000138.5(FBN1):c.252T>C (p.Ile84=)
NM_000138.5(FBN1):c.2535C>T (p.Cys845=)
NM_000138.5(FBN1):c.2539+3A>G
NM_000138.5(FBN1):c.2539+5T>C
NM_000138.5(FBN1):c.2540-9C>T
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile) rs878853680
NM_000138.5(FBN1):c.2544C>T (p.Thr848=) rs2043596539
NM_000138.5(FBN1):c.2548A>C (p.Lys850Gln) rs1481779864
NM_000138.5(FBN1):c.2564A>G (p.Gln855Arg) rs2043596063
NM_000138.5(FBN1):c.2567C>G (p.Thr856Ser)
NM_000138.5(FBN1):c.256C>T (p.Arg86Trp)
NM_000138.5(FBN1):c.2572A>G (p.Ile858Val)
NM_000138.5(FBN1):c.2579G>A (p.Gly860Glu)
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln) rs2044650738
NM_000138.5(FBN1):c.2581C>G (p.Arg861Gly)
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg) rs2043595650
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
NM_000138.5(FBN1):c.2608A>G (p.Thr870Ala)
NM_000138.5(FBN1):c.2646G>A (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2646G>C (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2657C>G (p.Pro886Arg)
NM_000138.5(FBN1):c.2678A>G (p.Asp893Gly)
NM_000138.5(FBN1):c.2679T>C (p.Asp893=)
NM_000138.5(FBN1):c.2683A>T (p.Ile895Leu)
NM_000138.5(FBN1):c.2698del (p.Tyr900fs)
NM_000138.5(FBN1):c.2700C>T (p.Tyr900=)
NM_000138.5(FBN1):c.2704A>G (p.Arg902Gly)
NM_000138.5(FBN1):c.2721A>G (p.Gln907=) rs781062880
NM_000138.5(FBN1):c.2729-8C>A rs775257418
NM_000138.5(FBN1):c.2734G>C (p.Asp912His)
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2757A>G (p.Gly919=) rs397515780
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
NM_000138.5(FBN1):c.2785A>G (p.Thr929Ala) rs372203315
NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser)
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
NM_000138.5(FBN1):c.2791G>A (p.Gly931Arg)
NM_000138.5(FBN1):c.2792G>C (p.Gly931Ala) rs200078617
NM_000138.5(FBN1):c.2793G>C (p.Gly931=) rs775785545
NM_000138.5(FBN1):c.2795C>T (p.Ser932Leu)
NM_000138.5(FBN1):c.2802G>T (p.Lys934Asn)
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941
NM_000138.5(FBN1):c.2817T>C (p.Ser939=) rs1254659886
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.2927G>T (p.Arg976Leu)
NM_000138.5(FBN1):c.2934C>T (p.Asp978=) rs138438849
NM_000138.5(FBN1):c.2937C>T (p.Ala979=)
NM_000138.5(FBN1):c.293A>G (p.Asn98Ser)
NM_000138.5(FBN1):c.2952C>A (p.Val984=) rs374670384
NM_000138.5(FBN1):c.2952C>T (p.Val984=) rs374670384
NM_000138.5(FBN1):c.295A>G (p.Met99Val)
NM_000138.5(FBN1):c.2966G>C (p.Gly989Ala)
NM_000138.5(FBN1):c.2983G>A (p.Glu995Lys)
NM_000138.5(FBN1):c.2993T>C (p.Met998Thr)
NM_000138.5(FBN1):c.3006T>A (p.Pro1002=)
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=) rs397515784
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys) rs754040534
NM_000138.5(FBN1):c.301A>T (p.Thr101Ser)
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=) rs553411757
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu) rs2141297017
NM_000138.5(FBN1):c.3082+5A>G
NM_000138.5(FBN1):c.3083-9T>C
NM_000138.5(FBN1):c.3085A>G (p.Ile1029Val)
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
NM_000138.5(FBN1):c.3103A>G (p.Ile1035Val)
NM_000138.5(FBN1):c.3122A>G (p.His1041Arg)
NM_000138.5(FBN1):c.3123C>T (p.His1041=) rs576395584
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3209-15G>A
NM_000138.5(FBN1):c.3209-7del rs2043526375
NM_000138.5(FBN1):c.3223C>A (p.Arg1075Ser)
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
NM_000138.5(FBN1):c.3267C>G (p.Thr1089=)
NM_000138.5(FBN1):c.3273G>A (p.Gly1091=)
NM_000138.5(FBN1):c.3274G>A (p.Asp1092Asn)
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
NM_000138.5(FBN1):c.3338-15A>G
NM_000138.5(FBN1):c.3396A>G (p.Thr1132=)
NM_000138.5(FBN1):c.3429C>T (p.Gly1143=)
NM_000138.5(FBN1):c.3441C>T (p.Ser1147=)
NM_000138.5(FBN1):c.3450C>A (p.Ile1150=)
NM_000138.5(FBN1):c.3450C>G (p.Ile1150Met)
NM_000138.5(FBN1):c.345C>T (p.Ser115=)
NM_000138.5(FBN1):c.3460A>G (p.Ile1154Val)
NM_000138.5(FBN1):c.3464-11T>C
NM_000138.5(FBN1):c.3464-11T>G
NM_000138.5(FBN1):c.3464-8C>T
NM_000138.5(FBN1):c.347-2A>C
NM_000138.5(FBN1):c.347-5dup
NM_000138.5(FBN1):c.3493C>T (p.Leu1165=) rs2043515081
NM_000138.5(FBN1):c.3494T>C (p.Leu1165Pro)
NM_000138.5(FBN1):c.3525A>G (p.Ile1175Met)
NM_000138.5(FBN1):c.3542C>T (p.Ala1181Val)
NM_000138.5(FBN1):c.354C>T (p.His118=)
NM_000138.5(FBN1):c.3569C>A (p.Pro1190His)
NM_000138.5(FBN1):c.3569C>G (p.Pro1190Arg)
NM_000138.5(FBN1):c.3570C>A (p.Pro1190=)
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys) rs751764864
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609
NM_000138.5(FBN1):c.3590-7C>A
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.3600A>G (p.Glu1200=)
NM_000138.5(FBN1):c.3609A>G (p.Ile1203Met)
NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser) rs794728207
NM_000138.5(FBN1):c.361A>G (p.Ile121Val)
NM_000138.5(FBN1):c.3651C>A (p.Gly1217=)
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg) rs2141291295
NM_000138.5(FBN1):c.3690G>A (p.Met1230Ile)
NM_000138.5(FBN1):c.3705A>G (p.Ser1235=)
NM_000138.5(FBN1):c.3709A>G (p.Thr1237Ala) rs1459223225
NM_000138.5(FBN1):c.371T>C (p.Met124Thr)
NM_000138.5(FBN1):c.3735T>C (p.Asn1245=)
NM_000138.5(FBN1):c.3740A>G (p.Asn1247Ser)
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.3773C>T (p.Pro1258Leu)
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
NM_000138.5(FBN1):c.3816T>C (p.Ser1272=)
NM_000138.5(FBN1):c.3824T>C (p.Met1275Thr)
NM_000138.5(FBN1):c.382A>C (p.Ser128Arg)
NM_000138.5(FBN1):c.3837A>C (p.Val1279=)
NM_000138.5(FBN1):c.3838+2T>C
NM_000138.5(FBN1):c.3839-15A>C
NM_000138.5(FBN1):c.3853G>C (p.Asp1285His)
NM_000138.5(FBN1):c.3878G>A (p.Ser1293Asn)
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.3905C>T (p.Ser1302Leu)
NM_000138.5(FBN1):c.3912C>T (p.Ile1304=)
NM_000138.5(FBN1):c.3941A>G (p.Lys1314Arg)
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
NM_000138.5(FBN1):c.3950A>G (p.Lys1317Arg)
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.3965-5T>A
NM_000138.5(FBN1):c.3966C>G (p.Asp1322Glu)
NM_000138.5(FBN1):c.3972T>C (p.Asn1324=)
NM_000138.5(FBN1):c.3984T>C (p.Ile1328=)
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg) rs867460746
NM_000138.5(FBN1):c.4088-8T>C
NM_000138.5(FBN1):c.4107T>A (p.Asn1369Lys)
NM_000138.5(FBN1):c.4114C>T (p.His1372Tyr)
NM_000138.5(FBN1):c.4122C>T (p.Cys1374=)
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn) rs2043402274
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu) rs756683929
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser)
NM_000138.5(FBN1):c.4190G>C (p.Gly1397Ala)
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=) rs2043401428
NM_000138.5(FBN1):c.4196G>A (p.Gly1399Asp)
NM_000138.5(FBN1):c.4211-3T>C
NM_000138.5(FBN1):c.4213C>A (p.Leu1405Ile)
NM_000138.5(FBN1):c.4235T>A (p.Leu1412Gln)
NM_000138.5(FBN1):c.4257G>T (p.Gln1419His)
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=) rs112375043
NM_000138.5(FBN1):c.42C>G (p.Thr14=)
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=) rs1243628683
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu) rs377338217
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
NM_000138.5(FBN1):c.4337-12C>T rs573468967
NM_000138.5(FBN1):c.4337-7C>T rs2043367095
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp) rs1555397423
NM_000138.5(FBN1):c.4358C>G (p.Pro1453Arg)
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.437G>A (p.Gly146Glu)
NM_000138.5(FBN1):c.43G>C (p.Val15Leu)
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=) rs780479561
NM_000138.5(FBN1):c.442+1G>C
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.442+4A>T
NM_000138.5(FBN1):c.4421T>C (p.Ile1474Thr)
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys) rs869025407
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4439G>C (p.Arg1480Thr)
NM_000138.5(FBN1):c.4442G>A (p.Ser1481Asn)
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4484C>T (p.Thr1495Ile)
NM_000138.5(FBN1):c.4485C>T (p.Thr1495=)
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=) rs2043341420
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala) rs794728224
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile) rs1555397207
NM_000138.5(FBN1):c.4545T>C (p.Pro1515=)
NM_000138.5(FBN1):c.4548T>G (p.Asp1516Glu) rs2043340843
NM_000138.5(FBN1):c.4565C>T (p.Thr1522Ile)
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser) rs995711019
NM_000138.5(FBN1):c.4583-4A>G
NM_000138.5(FBN1):c.4591T>C (p.Ser1531Pro)
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=) rs985992262
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr) rs757316301
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val) rs2043337939
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg) rs2043337860
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
NM_000138.5(FBN1):c.4640C>G (p.Thr1547Arg) rs183306990
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys) rs794728229
NM_000138.5(FBN1):c.4652A>T (p.Asn1551Ile)
NM_000138.5(FBN1):c.4661G>A (p.Gly1554Glu)
NM_000138.5(FBN1):c.4678G>C (p.Ala1560Pro)
NM_000138.5(FBN1):c.4713T>A (p.Gly1571=) rs1363175789
NM_000138.5(FBN1):c.4728G>A (p.Met1576Ile) rs2141272271
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
NM_000138.5(FBN1):c.4747+4A>G rs1430326088
NM_000138.5(FBN1):c.4748-3T>C rs770762644
NM_000138.5(FBN1):c.474_476del (p.Arg159del) rs2140711718
NM_000138.5(FBN1):c.477G>T (p.Arg159Ser) rs1456579664
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=) rs2043316050
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4816+4A>G rs2141269898
NM_000138.5(FBN1):c.4817-11G>T
NM_000138.5(FBN1):c.4817-14T>G
NM_000138.5(FBN1):c.4822G>A (p.Asp1608Asn)
NM_000138.5(FBN1):c.4823A>T (p.Asp1608Val)
NM_000138.5(FBN1):c.482T>C (p.Val161Ala)
NM_000138.5(FBN1):c.4853A>G (p.Gln1618Arg) rs2043314733
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=) rs2043314687
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn) rs1460284193
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.4930C>A (p.Arg1644=) rs140630
NM_000138.5(FBN1):c.4943-13C>T
NM_000138.5(FBN1):c.4943-15C>A
NM_000138.5(FBN1):c.4943-4A>G rs1555396865
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.4999G>C (p.Val1667Leu)
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>A rs531105331
NM_000138.5(FBN1):c.5080T>C (p.Leu1694=) rs2043294030
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=) rs1235270306
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=) rs1031351464
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
NM_000138.5(FBN1):c.5189A>G (p.Asn1730Ser)
NM_000138.5(FBN1):c.5215C>T (p.Pro1739Ser)
NM_000138.5(FBN1):c.5224+5G>T
NM_000138.5(FBN1):c.5225-10A>T
NM_000138.5(FBN1):c.5233G>A (p.Ala1745Thr)
NM_000138.5(FBN1):c.5238A>G (p.Thr1746=)
NM_000138.5(FBN1):c.5239C>A (p.Leu1747Ile)
NM_000138.5(FBN1):c.5254A>C (p.Arg1752=)
NM_000138.5(FBN1):c.5259A>G (p.Pro1753=)
NM_000138.5(FBN1):c.5262C>A (p.Gly1754=)
NM_000138.5(FBN1):c.5297-10C>T
NM_000138.5(FBN1):c.5297-8del
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5380C>G (p.Pro1794Ala)
NM_000138.5(FBN1):c.5382A>G (p.Pro1794=)
NM_000138.5(FBN1):c.5412G>A (p.Leu1804=)
NM_000138.5(FBN1):c.5444G>A (p.Gly1815Asp)
NM_000138.5(FBN1):c.545G>A (p.Arg182Lys) rs2044026912
NM_000138.5(FBN1):c.5475C>T (p.Ile1825=)
NM_000138.5(FBN1):c.5502C>T (p.Asp1834=)
NM_000138.5(FBN1):c.5521T>C (p.Phe1841Leu)
NM_000138.5(FBN1):c.5528C>T (p.Ser1843Phe)
NM_000138.5(FBN1):c.5549G>T (p.Arg1850Leu)
NM_000138.5(FBN1):c.555A>G (p.Pro185=) rs1597593844
NM_000138.5(FBN1):c.5571C>A (p.Pro1857=)
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5633C>T (p.Thr1878Ile)
NM_000138.5(FBN1):c.5671+6T>A
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val) rs760170973
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=) rs772617187
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5721C>T (p.Asn1907=)
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile) rs1304811982
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
NM_000138.5(FBN1):c.5772CAA[1] (p.Asn1926del)
NM_000138.5(FBN1):c.5786T>C (p.Ile1929Thr)
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.57dup (p.Tyr20fs)
NM_000138.5(FBN1):c.5809G>A (p.Gly1937Arg)
NM_000138.5(FBN1):c.5816G>A (p.Gly1939Glu)
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=) rs759049300
NM_000138.5(FBN1):c.5848A>G (p.Thr1950Ala)
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=) rs2043151355
NM_000138.5(FBN1):c.5852T>C (p.Val1951Ala)
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
NM_000138.5(FBN1):c.5865G>T (p.Gln1955His) rs1292712431
NM_000138.5(FBN1):c.5896C>G (p.Pro1966Ala)
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg) rs768997549
NM_000138.5(FBN1):c.5918-6T>C
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.595C>G (p.Leu199Val) rs1221144366
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu) rs1566898093
NM_000138.5(FBN1):c.6087C>T (p.Cys2029=)
NM_000138.5(FBN1):c.6096T>A (p.Thr2032=)
NM_000138.5(FBN1):c.6110A>C (p.Lys2037Thr)
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
NM_000138.5(FBN1):c.6147T>G (p.Ser2049Arg)
NM_000138.5(FBN1):c.6156G>A (p.Arg2052=)
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6163+1G>A rs1566897374
NM_000138.5(FBN1):c.6164-12T>C
NM_000138.5(FBN1):c.6164-15A>G
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6168G>A (p.Leu2056=)
NM_000138.5(FBN1):c.6173T>C (p.Met2058Thr)
NM_000138.5(FBN1):c.6181T>A (p.Cys2061Ser)
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
NM_000138.5(FBN1):c.620C>T (p.Thr207Met)
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=) rs771786623
NM_000138.5(FBN1):c.621G>A (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.621G>T (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=) rs2043084739
NM_000138.5(FBN1):c.6314-6C>T rs2141240971
NM_000138.5(FBN1):c.6317C>T (p.Ala2106Val)
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn) rs769196373
NM_000138.5(FBN1):c.6362C>A (p.Pro2121His)
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6461C>T (p.Pro2154Leu)
NM_000138.5(FBN1):c.6462C>G (p.Pro2154=)
NM_000138.5(FBN1):c.6473T>G (p.Ile2158Ser)
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6515T>C (p.Val2172Ala)
NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile)
NM_000138.5(FBN1):c.660C>A (p.Pro220=)
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=) rs921997271
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=) rs755861623
NM_000138.5(FBN1):c.6659G>T (p.Arg2220Leu)
NM_000138.5(FBN1):c.6680C>T (p.Ser2227Leu)
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6704G>A (p.Gly2235Glu)
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) rs368439899
NM_000138.5(FBN1):c.6711G>T (p.Val2237=) rs760867972
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
NM_000138.5(FBN1):c.6723C>T (p.Asp2241=)
NM_000138.5(FBN1):c.6732G>C (p.Met2244Ile)
NM_000138.5(FBN1):c.6739+2T>C
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser) rs2044025163
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys) rs1245476075
NM_000138.5(FBN1):c.6762A>G (p.Gly2254=)
NM_000138.5(FBN1):c.6769G>A (p.Asp2257Asn)
NM_000138.5(FBN1):c.6823A>G (p.Ile2275Val)
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu) rs1455580241
NM_000138.5(FBN1):c.6864C>T (p.Gly2288=)
NM_000138.5(FBN1):c.6868G>A (p.Val2290Ile)
NM_000138.5(FBN1):c.6872-13T>C
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
NM_000138.5(FBN1):c.6931C>T (p.Arg2311Cys)
NM_000138.5(FBN1):c.6934G>A (p.Gly2312Arg)
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6980A>G (p.Asn2327Ser)
NM_000138.5(FBN1):c.6985G>A (p.Asp2329Asn)
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=) rs363831
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln) rs761248433
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys) rs2141229151
NM_000138.5(FBN1):c.7026G>A (p.Glu2342=) rs1555394578
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
NM_000138.5(FBN1):c.7038C>T (p.Asn2346=)
NM_000138.5(FBN1):c.7041G>A (p.Met2347Ile)
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=) rs772287755
NM_000138.5(FBN1):c.7061A>G (p.Asn2354Ser)
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.7106G>C (p.Arg2369Thr)
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.711A>G (p.Pro237=)
NM_000138.5(FBN1):c.7136C>T (p.Pro2379Leu) rs1295154212
NM_000138.5(FBN1):c.7150G>A (p.Val2384Met)
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
NM_000138.5(FBN1):c.7160A>G (p.Lys2387Arg)
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
NM_000138.5(FBN1):c.716T>G (p.Ile239Ser)
NM_000138.5(FBN1):c.7171C>T (p.Pro2391Ser)
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
NM_000138.5(FBN1):c.7191G>T (p.Met2397Ile) rs2042987428
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile) rs1169351376
NM_000138.5(FBN1):c.7198G>A (p.Gly2400Arg) rs2141228805
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.5(FBN1):c.7225A>G (p.Ile2409Val)
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
NM_000138.5(FBN1):c.7228C>G (p.His2410Asp) rs548057493
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7249G>A (p.Glu2417Lys)
NM_000138.5(FBN1):c.7250A>G (p.Glu2417Gly)
NM_000138.5(FBN1):c.7251A>C (p.Glu2417Asp)
NM_000138.5(FBN1):c.7255G>A (p.Val2419Ile)
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
NM_000138.5(FBN1):c.7303C>G (p.Pro2435Ala)
NM_000138.5(FBN1):c.7306G>A (p.Asp2436Asn)
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala) rs2141226842
NM_000138.5(FBN1):c.7334T>C (p.Leu2445Pro)
NM_000138.5(FBN1):c.7349A>G (p.Gln2450Arg)
NM_000138.5(FBN1):c.7352C>T (p.Ala2451Val)
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His) rs2141226433
NM_000138.5(FBN1):c.737-19_737-16del rs748812494
NM_000138.5(FBN1):c.7374C>G (p.Ile2458Met) rs2042971724
NM_000138.5(FBN1):c.737A>T (p.Asp246Val)
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala) rs371278936
NM_000138.5(FBN1):c.7392G>C (p.Gly2464=)
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7475A>G (p.Lys2492Arg)
NM_000138.5(FBN1):c.7480C>T (p.His2494Tyr)
NM_000138.5(FBN1):c.7491G>A (p.Gln2497=)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.74C>T (p.Ala25Val)
NM_000138.5(FBN1):c.7508C>T (p.Thr2503Ile) rs749654334
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
NM_000138.5(FBN1):c.7514G>A (p.Gly2505Asp)
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=) rs374570475
NM_000138.5(FBN1):c.7529A>C (p.Lys2510Thr)
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=) rs754992689
NM_000138.5(FBN1):c.7563C>G (p.Ser2521=)
NM_000138.5(FBN1):c.7586C>A (p.Thr2529Asn)
NM_000138.5(FBN1):c.7630A>G (p.Thr2544Ala)
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7658A>T (p.Gln2553Leu)
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7675G>A (p.Asp2559Asn)
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=) rs748055037
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys) rs2141220835
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn)
NM_000138.5(FBN1):c.7764C>T (p.Tyr2588=)
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=) rs1555394142
NM_000138.5(FBN1):c.7793A>C (p.Gln2598Pro)
NM_000138.5(FBN1):c.7797C>G (p.His2599Gln)
NM_000138.5(FBN1):c.7820-10T>C
NM_000138.5(FBN1):c.7825A>G (p.Asn2609Asp)
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7841C>G (p.Ala2614Gly)
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=) rs764496589
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu) rs113926846
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.787A>G (p.Ile263Val) rs876657811
NM_000138.5(FBN1):c.7883G>A (p.Ser2628Asn)
NM_000138.5(FBN1):c.7893C>T (p.Cys2631=)
NM_000138.5(FBN1):c.7965G>T (p.Ala2655=)
NM_000138.5(FBN1):c.796G>T (p.Val266Phe)
NM_000138.5(FBN1):c.802T>G (p.Ser268Ala)
NM_000138.5(FBN1):c.8037C>G (p.Phe2679Leu)
NM_000138.5(FBN1):c.8052-12C>A
NM_000138.5(FBN1):c.8061T>G (p.Val2687=)
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
NM_000138.5(FBN1):c.8075T>C (p.Met2692Thr)
NM_000138.5(FBN1):c.807T>A (p.Phe269Leu)
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly) rs200309328
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg) rs1555393663
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln) rs2043994842
NM_000138.5(FBN1):c.8097A>T (p.Pro2699=)
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.8134C>T (p.Pro2712Ser)
NM_000138.5(FBN1):c.8140G>C (p.Ala2714Pro)
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=) rs112642323
NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu)
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp) rs2042872481
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
NM_000138.5(FBN1):c.8203G>C (p.Glu2735Gln)
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp) rs2042871947
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8227-4C>T
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr) rs1345051744
NM_000138.5(FBN1):c.823G>C (p.Ala275Pro)
NM_000138.5(FBN1):c.8241A>G (p.Thr2747=)
NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn) rs2042861973
NM_000138.5(FBN1):c.8279A>T (p.Lys2760Met)
NM_000138.5(FBN1):c.827G>A (p.Gly276Glu)
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala)
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
NM_000138.5(FBN1):c.82A>G (p.Asn28Asp) rs1555407418
NM_000138.5(FBN1):c.8303T>C (p.Ile2768Thr)
NM_000138.5(FBN1):c.831C>A (p.His277Gln)
NM_000138.5(FBN1):c.8332C>T (p.Leu2778=)
NM_000138.5(FBN1):c.8337A>C (p.Glu2779Asp)
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
NM_000138.5(FBN1):c.8361G>C (p.Leu2787=) rs2042860148
NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg)
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His) rs2042859991
NM_000138.5(FBN1):c.8372A>G (p.Asn2791Ser)
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455
NM_000138.5(FBN1):c.8427G>A (p.Lys2809=)
NM_000138.5(FBN1):c.846G>A (p.Val282=) rs2043994063
NM_000138.5(FBN1):c.8478C>G (p.Thr2826=) rs1597506683
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala) rs1284038548
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys) rs1555393508
NM_000138.5(FBN1):c.8542A>G (p.Lys2848Glu)
NM_000138.5(FBN1):c.8547T>C (p.Tyr2849=)
NM_000138.5(FBN1):c.8564G>T (p.Ser2855Ile)
NM_000138.5(FBN1):c.8575G>A (p.Gly2859Ser)
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile) rs747213800
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
NM_000138.5(FBN1):c.863-7A>G rs771131700
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala) rs142888621
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
NM_000138.5(FBN1):c.905G>T (p.Gly302Val) rs779866501
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp) rs778831047
NM_000138.5(FBN1):c.920C>G (p.Thr307Arg)
NM_000138.5(FBN1):c.946C>T (p.Pro316Ser)
NM_000138.5(FBN1):c.947C>T (p.Pro316Leu)
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu) rs2140787667
NM_000138.5(FBN1):c.974G>C (p.Gly325Ala)
NM_000138.5(FBN1):c.989-10T>A
NM_000138.5(FBN1):c.989-16_989-15del
NM_000138.5(FBN1):c.989-8G>A
NM_000138.5(FBN1):c.989A>G (p.Asp330Gly)
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
NM_003242.6(TGFBR2):c.*3C>A
NM_003242.6(TGFBR2):c.-1C>T
NM_003242.6(TGFBR2):c.-9G>A
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe) rs1699354286
NM_003242.6(TGFBR2):c.1021G>C (p.Val341Leu)
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His) rs984098699
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn) rs2125435790
NM_003242.6(TGFBR2):c.1063G>T (p.Ala355Ser)
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1071G>A (p.Gly357=) rs1575158015
NM_003242.6(TGFBR2):c.1092T>A (p.Asp364Glu)
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala) rs777332888
NM_003242.6(TGFBR2):c.1097C>T (p.Thr366Ile)
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1126G>T (p.Val376Leu)
NM_003242.6(TGFBR2):c.1137C>T (p.Asp379=) rs1411787654
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1170C>T (p.Asp390=) rs1699359494
NM_003242.6(TGFBR2):c.1176C>G (p.Thr392=)
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1179C>T (p.Cys393=) rs2125436765
NM_003242.6(TGFBR2):c.1182C>T (p.Cys394=)
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
NM_003242.6(TGFBR2):c.1197G>A (p.Gly399=)
NM_003242.6(TGFBR2):c.1203C>T (p.Ser401=)
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1243A>G (p.Asn415Asp)
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
NM_003242.6(TGFBR2):c.1265C>T (p.Ala422Val)
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
NM_003242.6(TGFBR2):c.1299G>A (p.Arg433=)
NM_003242.6(TGFBR2):c.1335C>G (p.Thr445=)
NM_003242.6(TGFBR2):c.1335C>T (p.Thr445=) rs546058122
NM_003242.6(TGFBR2):c.1357G>T (p.Val453Leu)
NM_003242.6(TGFBR2):c.1370T>C (p.Met457Thr)
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile) rs1699394098
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1397-12C>A
NM_003242.6(TGFBR2):c.1401A>G (p.Val467=) rs2125451595
NM_003242.6(TGFBR2):c.1403A>T (p.Lys468Ile)
NM_003242.6(TGFBR2):c.1416T>C (p.Pro472=) rs2125451658
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
NM_003242.6(TGFBR2):c.1460T>C (p.Met487Thr)
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
NM_003242.6(TGFBR2):c.147A>G (p.Gln49=)
NM_003242.6(TGFBR2):c.1486G>A (p.Gly496Arg)
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu) rs772201128
NM_003242.6(TGFBR2):c.1524+11_1524+14del
NM_003242.6(TGFBR2):c.1542T>C (p.Cys514=) rs1575166645
NM_003242.6(TGFBR2):c.1566C>T (p.Asp522=)
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652
NM_003242.6(TGFBR2):c.1633G>A (p.Asp545Asn)
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu) rs1178327690
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys) rs1325892805
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.1687C>T (p.Leu563=)
NM_003242.6(TGFBR2):c.168G>A (p.Val56=)
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
NM_003242.6(TGFBR2):c.1699A>G (p.Lys567Glu)
NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)
NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)
NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)
NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
NM_003242.6(TGFBR2):c.33G>C (p.Pro11=)
NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)
NM_003242.6(TGFBR2):c.357A>G (p.Pro119=)
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu) rs2125410292
NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)
NM_003242.6(TGFBR2):c.378A>G (p.Lys126=) rs2125410377
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.387T>G (p.Pro129=)
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)
NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)
NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)
NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.455-9C>T rs1699338104
NM_003242.6(TGFBR2):c.462C>T (p.Asn154=)
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
NM_003242.6(TGFBR2):c.468C>T (p.Ser156=)
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)
NM_003242.6(TGFBR2):c.531A>G (p.Gly177=)
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val) rs1371905176
NM_003242.6(TGFBR2):c.555C>T (p.Ile185=)
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu) rs763085648
NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)
NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)
NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.627C>A (p.Leu209=)
NM_003242.6(TGFBR2):c.628A>G (p.Met210Val)
NM_003242.6(TGFBR2):c.636C>T (p.Phe212=)
NM_003242.6(TGFBR2):c.638G>A (p.Ser213Asn)
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
NM_003242.6(TGFBR2):c.723G>C (p.Leu241=)
NM_003242.6(TGFBR2):c.735G>C (p.Glu245Asp)
NM_003242.6(TGFBR2):c.744C>G (p.Thr248=)
NM_003242.6(TGFBR2):c.756A>G (p.Lys252=) rs1160016010
NM_003242.6(TGFBR2):c.779A>G (p.Lys260Arg)
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)
NM_003242.6(TGFBR2):c.834C>T (p.Ile278=)
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
NM_003242.6(TGFBR2):c.897G>A (p.Leu299=) rs1699350239
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser) rs2125435026
NM_003242.6(TGFBR2):c.915C>G (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser) rs1553630181
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.948G>A (p.Glu316=) rs1699352075
NM_003242.6(TGFBR2):c.95-6C>T
NM_003242.6(TGFBR2):c.954G>A (p.Gly318=)
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_003242.6(TGFBR2):c.972C>G (p.Ile324Met)
NM_003242.6(TGFBR2):c.978C>T (p.Ala326=) rs1575157891
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser) rs2125404654
NM_003242.6(TGFBR2):c.993C>T (p.Gly331=) rs1443786366

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