ClinVar Miner

List of variants in gene ADAMTS2 reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 533
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr) rs376054177 0.00353
NM_014244.5(ADAMTS2):c.*1639C>T rs138971097 0.00330
NM_014244.5(ADAMTS2):c.*2854T>C rs11740156 0.00252
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn) rs758419331 0.00169
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628 0.00148
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_014244.5(ADAMTS2):c.*2853G>A rs565652629 0.00121
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961 0.00100
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
NM_014244.5(ADAMTS2):c.*2598A>G rs371733200 0.00083
NM_014244.5(ADAMTS2):c.*183T>C rs184732586 0.00073
NM_014244.5(ADAMTS2):c.*1919T>G rs574968586 0.00066
NM_014244.5(ADAMTS2):c.*707A>G rs149592164 0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_014244.5(ADAMTS2):c.*524G>A rs565021011 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_014244.5(ADAMTS2):c.*813G>C rs577299266 0.00046
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762 0.00044
NM_014244.5(ADAMTS2):c.-13C>A rs886060499 0.00040
NM_014244.5(ADAMTS2):c.*2595C>T rs188054405 0.00035
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn) rs138399615 0.00033
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His) rs201998372 0.00029
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431 0.00024
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_014244.5(ADAMTS2):c.*2302C>T rs564480935 0.00022
NM_014244.5(ADAMTS2):c.*2440G>A rs546192004 0.00022
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr) rs145336133 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_014244.5(ADAMTS2):c.759G>A (p.Ser253=) rs374180760 0.00022
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser) rs546990509 0.00021
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037 0.00021
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met) rs148717330 0.00019
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_014244.5(ADAMTS2):c.1629+6G>A rs377268307 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_014244.5(ADAMTS2):c.*2064A>G rs759155545 0.00015
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser) rs368690576 0.00015
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014244.5(ADAMTS2):c.*222C>T rs886060488 0.00013
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395 0.00013
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857 0.00013
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=) rs369654932 0.00012
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895 0.00012
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857 0.00012
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308 0.00011
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser) rs201864255 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln) rs146064587 0.00011
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A rs199825726 0.00010
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185 0.00010
NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg) rs374211371 0.00008
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr) rs768334305 0.00008
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met) rs368363548 0.00007
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633 0.00007
NM_014244.5(ADAMTS2):c.*550G>A rs753995152 0.00006
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met) rs765595538 0.00006
NM_014244.5(ADAMTS2):c.2036G>A (p.Arg679His) rs144554943 0.00006
NM_014244.5(ADAMTS2):c.2146G>A (p.Gly716Arg) rs370013405 0.00006
NM_014244.5(ADAMTS2):c.2492C>T (p.Thr831Met) rs7705437 0.00006
NM_014244.5(ADAMTS2):c.2557T>G (p.Ser853Ala) rs762463826 0.00006
NM_014244.5(ADAMTS2):c.2689G>A (p.Ala897Thr) rs748245637 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527 0.00006
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His) rs369215593 0.00006
NM_014244.5(ADAMTS2):c.640C>T (p.Arg214Trp) rs144732073 0.00006
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His) rs752634323 0.00005
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val) rs370614125 0.00005
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro) rs371013989 0.00005
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773 0.00005
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444 0.00005
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val) rs749842975 0.00005
NM_014244.5(ADAMTS2):c.721C>T (p.Arg241Cys) rs140045997 0.00005
NM_014244.5(ADAMTS2):c.*2035G>A rs1022911243 0.00004
NM_014244.5(ADAMTS2):c.*2511C>A rs1265598763 0.00004
NM_014244.5(ADAMTS2):c.*985C>T rs187198149 0.00004
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390 0.00004
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His) rs201162234 0.00004
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401 0.00004
NM_014244.5(ADAMTS2):c.1519C>T (p.Arg507Trp) rs201393333 0.00004
NM_014244.5(ADAMTS2):c.1520G>A (p.Arg507Gln) rs148263300 0.00004
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val) rs768252348 0.00004
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052 0.00004
NM_014244.5(ADAMTS2):c.2171T>A (p.Val724Glu) rs761256475 0.00004
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062 0.00004
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559 0.00004
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983 0.00004
NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr) rs557070498 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341 0.00004
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005 0.00004
NM_014244.5(ADAMTS2):c.976-10C>A rs973000351 0.00004
NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg) rs483352736 0.00004
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483 0.00003
NM_014244.5(ADAMTS2):c.*2589T>G rs886060482 0.00003
NM_014244.5(ADAMTS2):c.*2724A>G rs886060481 0.00003
NM_014244.5(ADAMTS2):c.*843G>A rs778909760 0.00003
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys) rs751283120 0.00003
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu) rs1019548575 0.00003
NM_014244.5(ADAMTS2):c.1641A>G (p.Lys547=) rs776592829 0.00003
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu) rs778186590 0.00003
NM_014244.5(ADAMTS2):c.2086-3C>T rs756427989 0.00003
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978 0.00003
NM_014244.5(ADAMTS2):c.2451C>T (p.Thr817=) rs138564815 0.00003
NM_014244.5(ADAMTS2):c.2530G>A (p.Asp844Asn) rs764687535 0.00003
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val) rs141654276 0.00003
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=) rs768390657 0.00003
NM_014244.5(ADAMTS2):c.2958+5G>A rs370239549 0.00003
NM_014244.5(ADAMTS2):c.3059C>T (p.Ala1020Val) rs1309222711 0.00003
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu) rs778184902 0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=) rs766731589 0.00003
NM_014244.5(ADAMTS2):c.3326C>T (p.Pro1109Leu) rs777170469 0.00003
NM_014244.5(ADAMTS2):c.3397C>T (p.Arg1133Trp) rs545409845 0.00003
NM_014244.5(ADAMTS2):c.3398G>A (p.Arg1133Gln) rs761111411 0.00003
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg) rs141541318 0.00003
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter) rs781618824 0.00003
NM_014244.5(ADAMTS2):c.40C>T (p.Pro14Ser) rs918053466 0.00003
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile) rs777436451 0.00003
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702 0.00003
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716 0.00003
NM_014244.5(ADAMTS2):c.773G>A (p.Arg258His) rs1057524562 0.00003
NM_014244.5(ADAMTS2):c.891+9G>A rs749508251 0.00003
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu) rs1407363425 0.00003
NM_014244.5(ADAMTS2):c.*1411G>A rs1222087934 0.00002
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu) rs762460815 0.00002
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382 0.00002
NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser) rs757782312 0.00002
NM_014244.5(ADAMTS2):c.1793G>A (p.Arg598His) rs1304320729 0.00002
NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln) rs766541864 0.00002
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776 0.00002
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688 0.00002
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His) rs76488852 0.00002
NM_014244.5(ADAMTS2):c.2675G>A (p.Arg892His) rs377397368 0.00002
NM_014244.5(ADAMTS2):c.269C>T (p.Ala90Val) rs1044141398 0.00002
NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys) rs1302357894 0.00002
NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr) rs773669935 0.00002
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln) rs777490675 0.00002
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308 0.00002
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr) rs372096858 0.00002
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490 0.00002
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe) rs781630569 0.00002
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp) rs769174562 0.00002
NM_014244.5(ADAMTS2):c.*174G>A rs1057408727 0.00001
NM_014244.5(ADAMTS2):c.*1777T>C rs1351159498 0.00001
NM_014244.5(ADAMTS2):c.*1941C>T rs886060485 0.00001
NM_014244.5(ADAMTS2):c.*518G>T rs1762600191 0.00001
NM_014244.5(ADAMTS2):c.*615T>C rs1762599095 0.00001
NM_014244.5(ADAMTS2):c.-2C>A rs1757919556 0.00001
NM_014244.5(ADAMTS2):c.1043T>A (p.Leu348His) rs746625854 0.00001
NM_014244.5(ADAMTS2):c.1057G>A (p.Asp353Asn) rs1264410712 0.00001
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617 0.00001
NM_014244.5(ADAMTS2):c.109G>A (p.Ala37Thr) rs1001487005 0.00001
NM_014244.5(ADAMTS2):c.1132+5G>A rs771663705 0.00001
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637 0.00001
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser) rs200813745 0.00001
NM_014244.5(ADAMTS2):c.1270C>T (p.Arg424Cys) rs370919224 0.00001
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783 0.00001
NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp) rs761498949 0.00001
NM_014244.5(ADAMTS2):c.1309C>A (p.Pro437Thr) rs1763419968 0.00001
NM_014244.5(ADAMTS2):c.1375T>C (p.Tyr459His) rs1330093880 0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=) rs751565994 0.00001
NM_014244.5(ADAMTS2):c.1420G>A (p.Asp474Asn) rs750225306 0.00001
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346 0.00001
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.142G>C (p.Gly48Arg) rs769371687 0.00001
NM_014244.5(ADAMTS2):c.1478G>A (p.Arg493His) rs758348587 0.00001
NM_014244.5(ADAMTS2):c.1523C>A (p.Thr508Asn) rs1174952034 0.00001
NM_014244.5(ADAMTS2):c.1565A>G (p.Asn522Ser) rs1243941175 0.00001
NM_014244.5(ADAMTS2):c.1567C>T (p.Pro523Ser) rs1198309600 0.00001
NM_014244.5(ADAMTS2):c.157G>C (p.Gly53Arg) rs1392499776 0.00001
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027 0.00001
NM_014244.5(ADAMTS2):c.1741G>A (p.Val581Met) rs778993977 0.00001
NM_014244.5(ADAMTS2):c.1819T>C (p.Phe607Leu) rs1238183487 0.00001
NM_014244.5(ADAMTS2):c.1834C>T (p.Arg612Cys) rs756757077 0.00001
NM_014244.5(ADAMTS2):c.1847C>T (p.Pro616Leu) rs1218050137 0.00001
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys) rs752401488 0.00001
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn) rs376707472 0.00001
NM_014244.5(ADAMTS2):c.2101G>A (p.Gly701Ser) rs755490840 0.00001
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp) rs997669873 0.00001
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu) rs768906337 0.00001
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg) rs779256197 0.00001
NM_014244.5(ADAMTS2):c.2266G>A (p.Val756Ile) rs780757881 0.00001
NM_014244.5(ADAMTS2):c.2279G>C (p.Ser760Thr) rs781493524 0.00001
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203 0.00001
NM_014244.5(ADAMTS2):c.2305G>C (p.Glu769Gln) rs867147371 0.00001
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile) rs749754452 0.00001
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp) rs376995938 0.00001
NM_014244.5(ADAMTS2):c.2558C>G (p.Ser853Cys) rs1057521585 0.00001
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu) rs372549560 0.00001
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555 0.00001
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=) rs370747086 0.00001
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu) rs751948505 0.00001
NM_014244.5(ADAMTS2):c.2713C>T (p.Arg905Cys) rs760156480 0.00001
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr) rs199617528 0.00001
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888 0.00001
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=) rs768036305 0.00001
NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp) rs776975672 0.00001
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144 0.00001
NM_014244.5(ADAMTS2):c.2902C>T (p.Arg968Trp) rs1473580610 0.00001
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785 0.00001
NM_014244.5(ADAMTS2):c.2939G>A (p.Arg980Gln) rs1441303816 0.00001
NM_014244.5(ADAMTS2):c.2958+14C>T rs755961602 0.00001
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg) rs553818378 0.00001
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109 0.00001
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys) rs373406403 0.00001
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser) rs1434954526 0.00001
NM_014244.5(ADAMTS2):c.3089-7C>A rs760424301 0.00001
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn) rs771197106 0.00001
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn) rs1252240288 0.00001
NM_014244.5(ADAMTS2):c.3258C>G (p.Asn1086Lys) rs1762622678 0.00001
NM_014244.5(ADAMTS2):c.3318A>G (p.Ile1106Met) rs773167287 0.00001
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065 0.00001
NM_014244.5(ADAMTS2):c.3508C>A (p.Leu1170Met) rs769503304 0.00001
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801 0.00001
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile) rs1278681689 0.00001
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln) rs772059202 0.00001
NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg) rs769813298 0.00001
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr) rs774483457 0.00001
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met) rs780603629 0.00001
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup) rs540605802 0.00001
NM_014244.5(ADAMTS2):c.563A>G (p.Glu188Gly) rs772175576 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495 0.00001
NM_014244.5(ADAMTS2):c.745C>T (p.His249Tyr) rs1764735032 0.00001
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=) rs751895494 0.00001
NM_014244.5(ADAMTS2):c.848G>A (p.Gly283Glu) rs760325496 0.00001
NM_014244.5(ADAMTS2):c.926C>T (p.Ala309Val) rs1253197089 0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=) rs767485549 0.00001
NC_000005.10:g.(?_179113857)_(179345338_?)dup
NC_000005.10:g.(?_179121651)_(179122783_?)del
NC_000005.10:g.(?_179343757)_(179345338_?)dup
NC_000005.9:g.(?_178540868)_(178700085_?)dup
NC_000005.9:g.(?_178562901)_(178700075_?)dup
NC_000005.9:g.(?_178770748)_(178772329_?)dup
NC_000005.9:g.(?_178770748)_(178772349_?)dup
NM_014244.5(ADAMTS2):c.*1077A>G rs1011844643
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1589T>C rs533044375
NM_014244.5(ADAMTS2):c.*1747A>C rs886060486
NM_014244.5(ADAMTS2):c.*181C>T rs886060489
NM_014244.5(ADAMTS2):c.*1837T>G rs1003207022
NM_014244.5(ADAMTS2):c.*2169G>A rs1762570717
NM_014244.5(ADAMTS2):c.*2180C>A rs961432521
NM_014244.5(ADAMTS2):c.*2820C>A rs1381911253
NM_014244.5(ADAMTS2):c.*2840T>G rs1008909674
NM_014244.5(ADAMTS2):c.*2923AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*353C>T rs886060487
NM_014244.5(ADAMTS2):c.*835C>T rs1762596121
NM_014244.5(ADAMTS2):c.-45T>C rs886060500
NM_014244.5(ADAMTS2):c.1049A>G (p.Gln350Arg) rs2113265082
NM_014244.5(ADAMTS2):c.1087G>A (p.Ala363Thr)
NM_014244.5(ADAMTS2):c.1102C>T (p.Arg368Trp) rs371384169
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.5(ADAMTS2):c.1132+6C>T
NM_014244.5(ADAMTS2):c.1132+9C>A rs1196360635
NM_014244.5(ADAMTS2):c.1136A>T (p.Tyr379Phe)
NM_014244.5(ADAMTS2):c.113G>A (p.Arg38Lys) rs2127463853
NM_014244.5(ADAMTS2):c.1169G>A (p.Arg390His) rs768623482
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.11C>A (p.Pro4Gln) rs2127463944
NM_014244.5(ADAMTS2):c.1202C>T (p.Ser401Phe)
NM_014244.5(ADAMTS2):c.1210T>C (p.Phe404Leu) rs2113254470
NM_014244.5(ADAMTS2):c.121G>C (p.Ala41Pro) rs1757906922
NM_014244.5(ADAMTS2):c.1271G>A (p.Arg424His)
NM_014244.5(ADAMTS2):c.1279G>A (p.Asp427Asn)
NM_014244.5(ADAMTS2):c.1282G>A (p.Glu428Lys)
NM_014244.5(ADAMTS2):c.1289G>A (p.Arg430Gln)
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.5(ADAMTS2):c.1319A>G (p.Gln440Arg)
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp) rs1763419619
NM_014244.5(ADAMTS2):c.1334G>A (p.Arg445His)
NM_014244.5(ADAMTS2):c.1340A>G (p.His447Arg)
NM_014244.5(ADAMTS2):c.1343G>C (p.Trp448Ser) rs1763419118
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His) rs1250691659
NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His) rs768230986
NM_014244.5(ADAMTS2):c.1380G>A (p.Leu460=) rs763194834
NM_014244.5(ADAMTS2):c.1383-3C>A rs1554126056
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=) rs1181728258
NM_014244.5(ADAMTS2):c.139+4G>C rs1023653032
NM_014244.5(ADAMTS2):c.139+6T>A
NM_014244.5(ADAMTS2):c.1407C>A (p.Asp469Glu)
NM_014244.5(ADAMTS2):c.1477C>T (p.Arg493Cys) rs779902229
NM_014244.5(ADAMTS2):c.148C>G (p.Leu50Val)
NM_014244.5(ADAMTS2):c.1516-3C>T rs1763376048
NM_014244.5(ADAMTS2):c.1619C>T (p.Ala540Val)
NM_014244.5(ADAMTS2):c.1622C>T (p.Pro541Leu)
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp) rs1581300233
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val) rs1400281876
NM_014244.5(ADAMTS2):c.1679G>A (p.Arg560Gln)
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu) rs368700721
NM_014244.5(ADAMTS2):c.1696G>A (p.Ala566Thr)
NM_014244.5(ADAMTS2):c.1712G>A (p.Gly571Asp)
NM_014244.5(ADAMTS2):c.1761G>C (p.Gln587His)
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln) rs1561773783
NM_014244.5(ADAMTS2):c.1778C>T (p.Pro593Leu) rs373020640
NM_014244.5(ADAMTS2):c.1783A>G (p.Asn595Asp) rs2113218874
NM_014244.5(ADAMTS2):c.1825C>T (p.Leu609Phe) rs757961083
NM_014244.5(ADAMTS2):c.1835G>A (p.Arg612His) rs1763093799
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=) rs569510744
NM_014244.5(ADAMTS2):c.1849G>A (p.Asp617Asn)
NM_014244.5(ADAMTS2):c.1882C>T (p.Arg628Cys) rs984794583
NM_014244.5(ADAMTS2):c.1904A>G (p.Glu635Gly) rs1763091963
NM_014244.5(ADAMTS2):c.1906C>T (p.His636Tyr)
NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr) rs1763091339
NM_014244.5(ADAMTS2):c.1945C>T (p.Arg649Trp)
NM_014244.5(ADAMTS2):c.1951+3G>T rs1181830676
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=) rs758599662
NM_014244.5(ADAMTS2):c.1997A>T (p.Glu666Val) rs2113214603
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2017A>G (p.Met673Val)
NM_014244.5(ADAMTS2):c.2018T>C (p.Met673Thr)
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.5(ADAMTS2):c.2047A>G (p.Lys683Glu)
NM_014244.5(ADAMTS2):c.2052C>G (p.Asp684Glu)
NM_014244.5(ADAMTS2):c.2054C>T (p.Ala685Val)
NM_014244.5(ADAMTS2):c.2071C>A (p.Arg691Ser)
NM_014244.5(ADAMTS2):c.2071C>T (p.Arg691Cys)
NM_014244.5(ADAMTS2):c.2072G>A (p.Arg691His)
NM_014244.5(ADAMTS2):c.2075G>A (p.Gly692Glu)
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg) rs1581145754
NM_014244.5(ADAMTS2):c.2140G>A (p.Val714Met)
NM_014244.5(ADAMTS2):c.2146G>C (p.Gly716Arg)
NM_014244.5(ADAMTS2):c.215C>T (p.Ser72Phe)
NM_014244.5(ADAMTS2):c.2192G>A (p.Arg731Gln)
NM_014244.5(ADAMTS2):c.2198C>G (p.Pro733Arg) rs1581143324
NM_014244.5(ADAMTS2):c.2208T>C (p.His736=) rs2113206149
NM_014244.5(ADAMTS2):c.2210G>T (p.Gly737Val)
NM_014244.5(ADAMTS2):c.2215A>G (p.Ile739Val) rs762128833
NM_014244.5(ADAMTS2):c.2218A>G (p.Lys740Glu) rs946826671
NM_014244.5(ADAMTS2):c.2242G>A (p.Ala748Thr)
NM_014244.5(ADAMTS2):c.2258T>C (p.Ile753Thr)
NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala)
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.5(ADAMTS2):c.22G>A (p.Ala8Thr) rs1267078082
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu) rs979142284
NM_014244.5(ADAMTS2):c.236C>T (p.Thr79Met) rs1054586627
NM_014244.5(ADAMTS2):c.2377G>A (p.Val793Met)
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys) rs747447840
NM_014244.5(ADAMTS2):c.2404G>A (p.Gly802Ser)
NM_014244.5(ADAMTS2):c.2407C>G (p.Arg803Gly)
NM_014244.5(ADAMTS2):c.2407C>T (p.Arg803Trp)
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.5(ADAMTS2):c.2440_2445del (p.Gly814_Thr815del)
NM_014244.5(ADAMTS2):c.2450C>G (p.Thr817Ser)
NM_014244.5(ADAMTS2):c.2452G>A (p.Val818Ile)
NM_014244.5(ADAMTS2):c.2465C>T (p.Pro822Leu) rs777107579
NM_014244.5(ADAMTS2):c.2477C>T (p.Thr826Ile)
NM_014244.5(ADAMTS2):c.2506A>C (p.Ile836Leu)
NM_014244.5(ADAMTS2):c.2530GAC[1] (p.Asp845del) rs779695756
NM_014244.5(ADAMTS2):c.2569G>A (p.Glu857Lys)
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.2591C>T (p.Ser864Phe)
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val) rs1338541722
NM_014244.5(ADAMTS2):c.2626T>C (p.Phe876Leu)
NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn)
NM_014244.5(ADAMTS2):c.2644C>T (p.Arg882Cys)
NM_014244.5(ADAMTS2):c.2666T>C (p.Met889Thr)
NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys) rs1554123906
NM_014244.5(ADAMTS2):c.268G>A (p.Ala90Thr)
NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=) rs567635584
NM_014244.5(ADAMTS2):c.2750+3G>A
NM_014244.5(ADAMTS2):c.2773C>A (p.Pro925Thr)
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.5(ADAMTS2):c.2821C>A (p.Arg941Ser)
NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=) rs1397278885
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2840A>G (p.His947Arg) rs1762831111
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del) rs765659887
NM_014244.5(ADAMTS2):c.2849C>T (p.Thr950Ile) rs1762830772
NM_014244.5(ADAMTS2):c.284C>T (p.Pro95Leu)
NM_014244.5(ADAMTS2):c.2885C>T (p.Ala962Val)
NM_014244.5(ADAMTS2):c.2888G>A (p.Arg963Gln)
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His) rs775213299
NM_014244.5(ADAMTS2):c.292C>G (p.Pro98Ala) rs2127463418
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp) rs1200659345
NM_014244.5(ADAMTS2):c.293C>G (p.Pro98Arg)
NM_014244.5(ADAMTS2):c.2944G>A (p.Gly982Arg)
NM_014244.5(ADAMTS2):c.2959-6C>T rs2113181904
NM_014244.5(ADAMTS2):c.2959-7C>G rs748783596
NM_014244.5(ADAMTS2):c.2965G>C (p.Val989Leu) rs2113181846
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=) rs571054777
NM_014244.5(ADAMTS2):c.3013G>A (p.Ala1005Thr)
NM_014244.5(ADAMTS2):c.3019G>A (p.Asp1007Asn)
NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)
NM_014244.5(ADAMTS2):c.3047G>T (p.Arg1016Leu) rs746802388
NM_014244.5(ADAMTS2):c.3047_3048delinsTC (p.Arg1016Leu) rs1762785033
NM_014244.5(ADAMTS2):c.3048T>C (p.Arg1016=) rs780184702
NM_014244.5(ADAMTS2):c.3062G>A (p.Arg1021Lys) rs2113181448
NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser) rs1762784582
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu) rs1340671554
NM_014244.5(ADAMTS2):c.3097T>C (p.Ser1033Pro)
NM_014244.5(ADAMTS2):c.310G>A (p.Glu104Lys) rs1757859981
NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His) rs1413406706
NM_014244.5(ADAMTS2):c.3145G>A (p.Asp1049Asn)
NM_014244.5(ADAMTS2):c.314C>G (p.Pro105Arg) rs1757859721
NM_014244.5(ADAMTS2):c.3158C>A (p.Pro1053His)
NM_014244.5(ADAMTS2):c.3161_3163del (p.Ile1054del)
NM_014244.5(ADAMTS2):c.3178+4A>G rs948167718
NM_014244.5(ADAMTS2):c.3178+5C>T
NM_014244.5(ADAMTS2):c.3219G>A (p.Met1073Ile)
NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=) rs1762622649
NM_014244.5(ADAMTS2):c.3304G>A (p.Val1102Met)
NM_014244.5(ADAMTS2):c.3305T>G (p.Val1102Gly)
NM_014244.5(ADAMTS2):c.3319G>C (p.Glu1107Gln) rs775059458
NM_014244.5(ADAMTS2):c.3323C>T (p.Pro1108Leu)
NM_014244.5(ADAMTS2):c.3343G>C (p.Asp1115His)
NM_014244.5(ADAMTS2):c.3352G>C (p.Val1118Leu)
NM_014244.5(ADAMTS2):c.3358A>G (p.Met1120Val) rs2113161569
NM_014244.5(ADAMTS2):c.335A>G (p.Asn112Ser)
NM_014244.5(ADAMTS2):c.3366C>T (p.Thr1122=) rs752223388
NM_014244.5(ADAMTS2):c.337G>A (p.Val113Ile) rs1757858860
NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile) rs368462217
NM_014244.5(ADAMTS2):c.3391G>A (p.Glu1131Lys) rs2113161430
NM_014244.5(ADAMTS2):c.3401C>T (p.Pro1134Leu)
NM_014244.5(ADAMTS2):c.3419del (p.Leu1140fs) rs2113161364
NM_014244.5(ADAMTS2):c.3427C>A (p.Pro1143Thr) rs2113161332
NM_014244.5(ADAMTS2):c.3455C>T (p.Thr1152Ile)
NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val) rs1232899709
NM_014244.5(ADAMTS2):c.3480C>G (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3481G>A (p.Val1161Ile)
NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser) rs776115866
NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro) rs141541318
NM_014244.5(ADAMTS2):c.3529_3530delinsTT (p.Pro1177Phe) rs2113161027
NM_014244.5(ADAMTS2):c.3530C>T (p.Pro1177Leu)
NM_014244.5(ADAMTS2):c.3548G>A (p.Arg1183Gln)
NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser) rs2113160848
NM_014244.5(ADAMTS2):c.3590A>G (p.Glu1197Gly) rs1561761828
NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe)
NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp) rs1762614743
NM_014244.5(ADAMTS2):c.365T>G (p.Leu122Arg) rs1757857775
NM_014244.5(ADAMTS2):c.368G>A (p.Arg123Gln)
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp) rs535594659
NM_014244.5(ADAMTS2):c.377C>A (p.Pro126His) rs1247479642
NM_014244.5(ADAMTS2):c.41C>G (p.Pro14Arg) rs2127463924
NM_014244.5(ADAMTS2):c.41C>T (p.Pro14Leu) rs2127463924
NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly) rs1757854963
NM_014244.5(ADAMTS2):c.440G>T (p.Arg147Leu) rs1003741366
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.449C>G (p.Pro150Arg)
NM_014244.5(ADAMTS2):c.458G>A (p.Gly153Glu) rs2127463330
NM_014244.5(ADAMTS2):c.461G>A (p.Ser154Asn)
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[12] (p.Leu20_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[13] (p.Leu23_Pro24insLeuLeuLeuLeuLeu) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.487G>C (p.Gly163Arg)
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup) rs1365580904
NM_014244.5(ADAMTS2):c.526G>A (p.Asp176Asn) rs1207222735
NM_014244.5(ADAMTS2):c.527A>G (p.Asp176Gly)
NM_014244.5(ADAMTS2):c.548G>A (p.Arg183Gln)
NM_014244.5(ADAMTS2):c.581T>C (p.Leu194Ser)
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu) rs76704342
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr) rs543859669
NM_014244.5(ADAMTS2):c.637C>G (p.Arg213Gly)
NM_014244.5(ADAMTS2):c.64_65insCGC (p.Leu21_Leu22insPro)
NM_014244.5(ADAMTS2):c.650C>A (p.Thr217Lys)
NM_014244.5(ADAMTS2):c.650C>T (p.Thr217Met)
NM_014244.5(ADAMTS2):c.656C>G (p.Pro219Arg) rs1766583475
NM_014244.5(ADAMTS2):c.65_66insTCT (p.Leu23_Pro24insLeu)
NM_014244.5(ADAMTS2):c.65_76dup (p.Pro25_Pro26insLeuLeuProPro) rs2127463883
NM_014244.5(ADAMTS2):c.661C>T (p.Leu221Phe)
NM_014244.5(ADAMTS2):c.664G>A (p.Gly222Arg)
NM_014244.5(ADAMTS2):c.670C>T (p.Pro224Ser)
NM_014244.5(ADAMTS2):c.685A>G (p.Thr229Ala)
NM_014244.5(ADAMTS2):c.699GGACAGCCT[1] (p.234DSL[1]) rs778523767
NM_014244.5(ADAMTS2):c.699GGACAGCCT[3] (p.234DSL[3]) rs778523767
NM_014244.5(ADAMTS2):c.700G>A (p.Asp234Asn)
NM_014244.5(ADAMTS2):c.70_71insTGCCGCTGCTGC (p.Leu23_Pro24insLeuProLeuLeu) rs2127463894
NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg)
NM_014244.5(ADAMTS2):c.71CGC[2] (p.Pro26del) rs763392299
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71CGC[5] (p.Pro25_Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71_82del (p.Pro24_Leu27del)
NM_014244.5(ADAMTS2):c.722G>T (p.Arg241Leu) rs11750821
NM_014244.5(ADAMTS2):c.725C>G (p.Ala242Gly)
NM_014244.5(ADAMTS2):c.732_733delinsTA (p.Val245Ile)
NM_014244.5(ADAMTS2):c.74C>A (p.Pro25Gln) rs1362955704
NM_014244.5(ADAMTS2):c.758C>T (p.Ser253Leu) rs750197805
NM_014244.5(ADAMTS2):c.767G>A (p.Arg256Lys) rs1764733855
NM_014244.5(ADAMTS2):c.76_77insTCCTGC (p.Pro25_Pro26insLeuLeu)
NM_014244.5(ADAMTS2):c.770C>T (p.Ala257Val) rs370679548
NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu) rs144235544
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup) rs1757908540
NM_014244.5(ADAMTS2):c.79_80insCAC (p.Pro26dup) rs1561778823
NM_014244.5(ADAMTS2):c.79_80insCGCTCCTGCCGC (p.Pro26_Leu27insProLeuLeuPro) rs1554100051
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Pro26_Leu27insArg) rs1561778823
NM_014244.5(ADAMTS2):c.80TCCTGCCGCCGCCGCCGCCGC[3] (p.Pro33_Pro34insLeuLeuProProProProProLeuLeuProProProProPro)
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1]) rs1041304220
NM_014244.5(ADAMTS2):c.821T>C (p.Val274Ala) rs1373325794
NM_014244.5(ADAMTS2):c.82_102dup (p.Pro34_Ala35insLeuProProProProProPro)
NM_014244.5(ADAMTS2):c.832G>A (p.Val278Met) rs1764731152
NM_014244.5(ADAMTS2):c.836T>C (p.Val279Ala)
NM_014244.5(ADAMTS2):c.84GCC[5] (p.Pro34del) rs770212030
NM_014244.5(ADAMTS2):c.84GCC[7] (p.Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.84GCC[8] (p.Pro33_Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.858_859delinsTA (p.Val287Ile)
NM_014244.5(ADAMTS2):c.863A>C (p.Gln288Pro) rs368893222
NM_014244.5(ADAMTS2):c.896A>C (p.Asn299Thr)
NM_014244.5(ADAMTS2):c.896A>G (p.Asn299Ser)
NM_014244.5(ADAMTS2):c.89C>A (p.Pro30Gln)
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=) rs1764038673
NM_014244.5(ADAMTS2):c.950G>A (p.Arg317Gln)
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.5(ADAMTS2):c.98C>A (p.Pro33Gln)

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