ClinVar Miner

List of variants studied for Xanthinuria type II

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ClinVar version:
Total variants: 706
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HGVS dbSNP gnomAD frequency
NM_017947.4(MOCOS):c.475C>A (p.Arg159=) rs646424 0.99420
NM_017947.4(MOCOS):c.550A>G (p.Ser184Gly) rs540967 0.99215
NM_017947.4(MOCOS):c.674A>G (p.His225Arg) rs623558 0.99207
NM_017947.4(MOCOS):c.1164A>G (p.Pro388=) rs667667 0.99200
NM_017947.4(MOCOS):c.509C>T (p.Thr170Ile) rs623053 0.90992
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725 0.77423
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.3052-12C>G rs13415401 0.74590
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475 0.24290
NM_017947.4(MOCOS):c.2107C>A (p.His703Asn) rs594445 0.22874
NM_017947.4(MOCOS):c.2600T>C (p.Val867Ala) rs1057251 0.10346
NM_017947.4(MOCOS):c.66C>A (p.Ser22Arg) rs113873219 0.07041
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440 0.05236
NM_017947.4(MOCOS):c.359G>A (p.Ser120Asn) rs3744900 0.04153
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032 0.02778
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02692
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133 0.02328
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225 0.02243
NM_000379.4(XDH):c.1686+8C>T rs17395224 0.02225
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837 0.02155
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738 0.02057
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000379.4(XDH):c.1509C>G (p.Gly503=) rs45612839 0.01566
NM_000379.4(XDH):c.1329G>A (p.Lys443=) rs45471294 0.01418
NM_017947.4(MOCOS):c.142+11C>A rs141031604 0.01418
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
NM_017947.4(MOCOS):c.15G>A (p.Ala5=) rs145568479 0.01199
NM_017947.4(MOCOS):c.2276A>G (p.Glu759Gly) rs77772031 0.01073
NM_017947.4(MOCOS):c.2599G>A (p.Val867Met) rs79823152 0.00979
NM_017947.4(MOCOS):c.1465C>T (p.Arg489Cys) rs35980997 0.00937
NM_017947.4(MOCOS):c.981G>A (p.Ala327=) rs35497696 0.00711
NM_017947.4(MOCOS):c.1992A>G (p.Glu664=) rs55701019 0.00592
NM_017947.4(MOCOS):c.1062G>A (p.Gln354=) rs141361512 0.00568
NM_000379.4(XDH):c.3375A>G (p.Thr1125=) rs45592238 0.00556
NM_000379.4(XDH):c.1857-4G>A rs17395175 0.00541
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_017947.4(MOCOS):c.1724T>C (p.Leu575Pro) rs114735250 0.00499
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) rs45491693 0.00492
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) rs141335716 0.00485
NM_000379.4(XDH):c.3951+14C>G rs201055814 0.00484
NM_017947.4(MOCOS):c.309G>A (p.Ala103=) rs149639104 0.00391
NM_000379.4(XDH):c.397G>A (p.Glu133Lys) rs45447191 0.00362
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) rs45619033 0.00328
NM_017947.4(MOCOS):c.1309A>G (p.Asn437Asp) rs35264715 0.00322
NM_017947.4(MOCOS):c.142+20T>C rs373431975 0.00309
NM_017947.4(MOCOS):c.1539A>G (p.Ala513=) rs76486529 0.00309
NM_000379.4(XDH):c.405C>T (p.Thr135=) rs72549370 0.00299
NM_000379.4(XDH):c.495+15C>T rs183572308 0.00280
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) rs45442092 0.00254
NM_000379.4(XDH):c.1629C>T (p.Phe543=) rs140651875 0.00250
NM_000379.4(XDH):c.1856+7G>A rs184028774 0.00228
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573 0.00224
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_017947.4(MOCOS):c.2270+17C>T rs142380976 0.00215
NM_000379.4(XDH):c.2729C>T (p.Thr910Met) rs669884 0.00200
NM_000379.4(XDH):c.882C>T (p.Pro294=) rs138246330 0.00195
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg) rs73922346 0.00193
NM_000379.4(XDH):c.1427+15C>A rs116569100 0.00186
NM_000379.4(XDH):c.1726C>T (p.Arg576Trp) rs139772558 0.00170
NM_017947.4(MOCOS):c.842C>T (p.Ala281Val) rs150272391 0.00157
NM_017947.4(MOCOS):c.431G>A (p.Arg144His) rs141483411 0.00148
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) rs45448694 0.00137
NM_000379.4(XDH):c.1774G>A (p.Val592Met) rs141314828 0.00131
NM_000379.4(XDH):c.2037A>C (p.Thr679=) rs139998082 0.00129
NM_017947.4(MOCOS):c.1589C>T (p.Ser530Leu) rs145294379 0.00115
NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) rs138649664 0.00113
NM_000379.4(XDH):c.822G>A (p.Leu274=) rs113345553 0.00108
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_017947.4(MOCOS):c.218T>C (p.Met73Thr) rs116981654 0.00095
NM_000379.4(XDH):c.2362A>T (p.Ile788Phe) rs141050887 0.00083
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00078
NM_017947.4(MOCOS):c.1908G>A (p.Leu636=) rs147207715 0.00076
NM_017947.4(MOCOS):c.512C>T (p.Pro171Leu) rs150556770 0.00076
NM_000379.4(XDH):c.101-7C>T rs113007282 0.00069
NM_000379.4(XDH):c.883G>A (p.Asp295Asn) rs142335345 0.00068
NM_000379.4(XDH):c.3018T>C (p.Phe1006=) rs144883930 0.00067
NM_017947.4(MOCOS):c.667C>T (p.Arg223Trp) rs77632154 0.00067
NM_000379.4(XDH):c.825T>C (p.Phe275=) rs145596057 0.00066
NM_000379.4(XDH):c.3864T>C (p.Gly1288=) rs148477626 0.00064
NM_000379.4(XDH):c.671G>A (p.Arg224Gln) rs112466737 0.00063
NM_017947.4(MOCOS):c.447C>T (p.Thr149=) rs142201209 0.00062
NM_000379.4(XDH):c.3052-4C>T rs370085305 0.00061
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr) rs45547640 0.00060
NM_000379.4(XDH):c.1911C>T (p.Ser637=) rs142197675 0.00058
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_000379.4(XDH):c.1357G>A (p.Ala453Thr) rs185036611 0.00055
NM_000379.4(XDH):c.2851G>A (p.Gly951Arg) rs142675390 0.00053
NM_000379.4(XDH):c.859C>G (p.Leu287Val) rs138674014 0.00052
NM_017947.4(MOCOS):c.941+20G>A rs571989443 0.00047
NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys) rs142329784 0.00045
NM_000379.4(XDH):c.3871G>A (p.Val1291Met) rs191740294 0.00045
NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln) rs139691722 0.00045
NM_000379.4(XDH):c.2441C>T (p.Ala814Val) rs148585342 0.00044
NM_000379.4(XDH):c.793+19G>A rs45625137 0.00043
NM_017947.4(MOCOS):c.1326G>A (p.Lys442=) rs147875201 0.00043
NM_000379.4(XDH):c.2452T>C (p.Tyr818His) rs139272198 0.00041
NM_000379.4(XDH):c.3930C>T (p.Cys1310=) rs138936101 0.00041
NM_000379.4(XDH):c.463C>A (p.Pro155Thr) rs145413551 0.00041
NM_000379.4(XDH):c.670C>T (p.Arg224Trp) rs147533056 0.00040
NM_017947.4(MOCOS):c.2270+18G>A rs368621821 0.00040
NM_017947.4(MOCOS):c.2254C>T (p.Arg752Trp) rs143831554 0.00039
NM_000379.4(XDH):c.3774+15G>A rs202125003 0.00038
NM_000379.4(XDH):c.2360G>A (p.Arg787Gln) rs149717617 0.00030
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) rs148235835 0.00029
NM_017947.4(MOCOS):c.686C>T (p.Thr229Met) rs141623345 0.00029
NM_017947.4(MOCOS):c.790A>G (p.Lys264Glu) rs148137052 0.00029
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) rs45594136 0.00028
NM_017947.4(MOCOS):c.726C>T (p.Tyr242=) rs61739904 0.00027
NM_000379.4(XDH):c.1669G>A (p.Asp557Asn) rs201792967 0.00026
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026
NM_017947.4(MOCOS):c.363G>A (p.Thr121=) rs376254012 0.00026
NM_017947.4(MOCOS):c.456C>T (p.His152=) rs374709636 0.00026
NM_017947.4(MOCOS):c.1579C>T (p.Arg527Cys) rs200725272 0.00025
NM_017947.4(MOCOS):c.2165-9C>T rs188625675 0.00024
NM_000379.4(XDH):c.1773C>T (p.Ala591=) rs145108969 0.00023
NM_000379.4(XDH):c.1037C>T (p.Ala346Val) rs142388231 0.00022
NM_000379.4(XDH):c.2460C>T (p.Thr820=) rs143539472 0.00022
NM_000379.4(XDH):c.2437G>C (p.Val813Leu) rs142951412 0.00021
NM_017947.4(MOCOS):c.1730G>A (p.Gly577Glu) rs200178020 0.00021
NM_000379.4(XDH):c.3737G>A (p.Arg1246His) rs140606023 0.00020
NM_000379.4(XDH):c.3920G>A (p.Arg1307His) rs138249576 0.00020
NM_017947.4(MOCOS):c.1316T>C (p.Met439Thr) rs144644128 0.00020
NM_000379.4(XDH):c.1819C>T (p.Arg607Trp) rs201464771 0.00019
NM_000379.4(XDH):c.617C>T (p.Pro206Leu) rs201332711 0.00019
NM_017947.4(MOCOS):c.1118G>A (p.Arg373Gln) rs144081367 0.00019
NM_017947.4(MOCOS):c.839G>A (p.Arg280His) rs141020986 0.00019
NM_000379.4(XDH):c.2794G>A (p.Ala932Thr) rs141291583 0.00018
NM_017947.4(MOCOS):c.2175T>G (p.Pro725=) rs151067903 0.00018
NM_000379.4(XDH):c.977T>G (p.Val326Gly) rs761592093 0.00017
NM_000379.4(XDH):c.1602C>T (p.Asp534=) rs61731080 0.00016
NM_000379.4(XDH):c.2969+8C>T rs374442016 0.00016
NM_000379.4(XDH):c.349A>T (p.Thr117Ser) rs556797607 0.00016
NM_017947.4(MOCOS):c.891G>A (p.Ala297=) rs368463866 0.00016
NM_017947.4(MOCOS):c.2082G>A (p.Leu694=) rs748662002 0.00015
NM_000379.4(XDH):c.1210C>A (p.Leu404Met) rs372033714 0.00014
NM_000379.4(XDH):c.1597G>A (p.Glu533Lys) rs147476468 0.00014
NM_000379.4(XDH):c.1749G>A (p.Ala583=) rs141831710 0.00014
NM_000379.4(XDH):c.959C>G (p.Pro320Arg) rs200384255 0.00014
NM_017947.4(MOCOS):c.1681G>A (p.Ala561Thr) rs577502738 0.00014
NM_017947.4(MOCOS):c.1798-19C>T rs201335005 0.00014
NM_017947.4(MOCOS):c.2327G>A (p.Arg776His) rs776357546 0.00014
NM_000379.4(XDH):c.1617G>T (p.Leu539=) rs117399514 0.00013
NM_000379.4(XDH):c.1785C>T (p.Asp595=) rs140066757 0.00013
NM_000379.4(XDH):c.1896T>G (p.Phe632Leu) rs149593992 0.00013
NM_000379.4(XDH):c.2102A>T (p.Asp701Val) rs527413763 0.00013
NM_000379.4(XDH):c.1912G>A (p.Ala638Thr) rs202112369 0.00012
NM_000379.4(XDH):c.3249C>T (p.Ser1083=) rs45562835 0.00012
NM_017947.4(MOCOS):c.354C>T (p.Ala118=) rs777970237 0.00012
NM_000379.4(XDH):c.1243-7C>G rs200362582 0.00011
NM_000379.4(XDH):c.1800C>T (p.Tyr600=) rs139964785 0.00011
NM_000379.4(XDH):c.3133A>G (p.Thr1045Ala) rs142402298 0.00011
NM_000379.4(XDH):c.3789G>A (p.Pro1263=) rs202077714 0.00011
NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter) rs142150953 0.00011
NM_017947.4(MOCOS):c.1358A>G (p.Asn453Ser) rs769839991 0.00011
NM_017947.4(MOCOS):c.1798-3T>C rs371191766 0.00011
NM_000379.4(XDH):c.1132+11T>C rs372322137 0.00010
NM_000379.4(XDH):c.327C>T (p.His109=) rs370058590 0.00010
NM_000379.4(XDH):c.328G>A (p.Gly110Ser) rs147286954 0.00010
NM_017947.4(MOCOS):c.2528T>C (p.Met843Thr) rs77657002 0.00010
NM_000379.4(XDH):c.1042G>A (p.Val348Ile) rs192453952 0.00009
NM_000379.4(XDH):c.2359C>T (p.Arg787Trp) rs148904866 0.00009
NM_000379.4(XDH):c.2631+20G>A rs370658508 0.00009
NM_000379.4(XDH):c.429C>G (p.Phe143Leu) rs780614997 0.00009
NM_000379.4(XDH):c.482G>A (p.Arg161Gln) rs200810102 0.00009
NM_017947.4(MOCOS):c.1351G>A (p.Gly451Arg) rs201070779 0.00009
NM_017947.4(MOCOS):c.1422G>A (p.Thr474=) rs34489411 0.00009
NM_017947.4(MOCOS):c.1849A>G (p.Met617Val) rs746750840 0.00009
NM_000379.4(XDH):c.2413C>T (p.Arg805Trp) rs140007233 0.00008
NM_000379.4(XDH):c.2014G>C (p.Val672Leu) rs756013401 0.00007
NM_000379.4(XDH):c.3148-17G>A rs368920281 0.00007
NM_000379.4(XDH):c.417T>G (p.Ile139Met) rs747715632 0.00007
NM_000379.4(XDH):c.1796G>A (p.Arg599His) rs200795066 0.00006
NM_000379.4(XDH):c.33T>G (p.Asn11Lys) rs201779309 0.00006
NM_000379.4(XDH):c.446G>A (p.Arg149His) rs148108999 0.00006
NM_017947.4(MOCOS):c.1718G>A (p.Gly573Glu) rs771741997 0.00006
NM_017947.4(MOCOS):c.1961-5A>T rs771076927 0.00006
NM_017947.4(MOCOS):c.300-1G>C rs138341349 0.00006
NM_017947.4(MOCOS):c.61C>T (p.Pro21Ser) rs1156588840 0.00006
NM_000379.4(XDH):c.1602+1G>A rs376882470 0.00005
NM_000379.4(XDH):c.1990G>A (p.Val664Ile) rs201301387 0.00005
NM_000379.4(XDH):c.2013G>A (p.Val671=) rs200635805 0.00005
NM_000379.4(XDH):c.2956G>A (p.Asp986Asn) rs367710339 0.00005
NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys) rs202023189 0.00005
NM_017947.4(MOCOS):c.1305A>G (p.Ile435Met) rs759846222 0.00005
NM_017947.4(MOCOS):c.1590G>A (p.Ser530=) rs137879052 0.00005
NM_017947.4(MOCOS):c.941+9G>C rs773763731 0.00005
NM_000379.4(XDH):c.1038+7C>T rs373596387 0.00004
NM_000379.4(XDH):c.1276C>T (p.Arg426Trp) rs749209037 0.00004
NM_000379.4(XDH):c.1476G>A (p.Glu492=) rs763906993 0.00004
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 0.00004
NM_000379.4(XDH):c.182T>C (p.Leu61Pro) rs765864735 0.00004
NM_000379.4(XDH):c.1970C>T (p.Ala657Val) rs143481133 0.00004
NM_000379.4(XDH):c.2164A>T (p.Lys722Ter) rs72549367 0.00004
NM_000379.4(XDH):c.2773G>A (p.Glu925Lys) rs755782316 0.00004
NM_000379.4(XDH):c.3195C>T (p.Ser1065=) rs200293437 0.00004
NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser) rs370788512 0.00004
NM_000379.4(XDH):c.361G>A (p.Val121Ile) rs751332444 0.00004
NM_000379.4(XDH):c.867G>A (p.Ser289=) rs749391188 0.00004
NM_000379.4(XDH):c.886+5G>A rs757314976 0.00004
NM_017947.4(MOCOS):c.2418G>A (p.Gly806=) rs528754639 0.00004
NM_017947.4(MOCOS):c.448G>A (p.Asp150Asn) rs371822612 0.00004
NM_017947.4(MOCOS):c.881C>T (p.Thr294Ile) rs577279030 0.00004
NM_000379.4(XDH):c.1319T>A (p.Val440Asp) rs750893035 0.00003
NM_000379.4(XDH):c.167C>G (p.Ser56Cys) rs754593222 0.00003
NM_000379.4(XDH):c.2252T>C (p.Ile751Thr) rs767059856 0.00003
NM_000379.4(XDH):c.2269G>A (p.Glu757Lys) rs370126462 0.00003
NM_000379.4(XDH):c.287C>T (p.Thr96Met) rs374226297 0.00003
NM_000379.4(XDH):c.3263G>A (p.Gly1088Glu) rs201855759 0.00003
NM_000379.4(XDH):c.3738C>T (p.Arg1246=) rs151338723 0.00003
NM_000379.4(XDH):c.485C>A (p.Thr162Asn) rs766718491 0.00003
NM_000379.4(XDH):c.606G>A (p.Thr202=) rs752308380 0.00003
NM_000379.4(XDH):c.698G>T (p.Arg233Leu) rs201194179 0.00003
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
NM_017947.4(MOCOS):c.1128C>T (p.Ser376=) rs138618669 0.00003
NM_017947.4(MOCOS):c.1421C>T (p.Thr474Met) rs201559593 0.00003
NM_017947.4(MOCOS):c.1616C>T (p.Ser539Phe) rs150119583 0.00003
NM_017947.4(MOCOS):c.1923C>T (p.Ile641=) rs200601583 0.00003
NM_017947.4(MOCOS):c.408G>C (p.Gln136His) rs372495692 0.00003
NM_017947.4(MOCOS):c.40A>T (p.Thr14Ser) rs779808561 0.00003
NM_017947.4(MOCOS):c.432C>T (p.Arg144=) rs756335430 0.00003
NM_017947.4(MOCOS):c.930G>A (p.Ser310=) rs780099735 0.00003
NM_017947.4(MOCOS):c.978C>T (p.Ile326=) rs540275885 0.00003
NM_000379.4(XDH):c.1119A>C (p.Thr373=) rs771331558 0.00002
NM_000379.4(XDH):c.1458G>A (p.Val486=) rs377080200 0.00002
NM_000379.4(XDH):c.1522C>T (p.Arg508Trp) rs778513905 0.00002
NM_000379.4(XDH):c.1795C>T (p.Arg599Cys) rs558003041 0.00002
NM_000379.4(XDH):c.1806T>A (p.Asn602Lys) rs768959436 0.00002
NM_000379.4(XDH):c.2027C>T (p.Pro676Leu) rs751442650 0.00002
NM_000379.4(XDH):c.2126A>G (p.Tyr709Cys) rs146345594 0.00002
NM_000379.4(XDH):c.2197+18C>T rs756126817 0.00002
NM_000379.4(XDH):c.2198-5C>T rs1310965576 0.00002
NM_000379.4(XDH):c.2686C>T (p.Arg896Trp) rs765576781 0.00002
NM_000379.4(XDH):c.3163C>G (p.Leu1055Val) rs756000543 0.00002
NM_000379.4(XDH):c.3210C>G (p.Asn1070Lys) rs769346803 0.00002
NM_000379.4(XDH):c.336G>A (p.Gln112=) rs747410096 0.00002
NM_000379.4(XDH):c.3581G>T (p.Gly1194Val) rs1388492434 0.00002
NM_000379.4(XDH):c.3692C>T (p.Pro1231Leu) rs746081258 0.00002
NM_000379.4(XDH):c.3838C>T (p.Arg1280Cys) rs768083545 0.00002
NM_000379.4(XDH):c.385C>T (p.Arg129Trp) rs145064943 0.00002
NM_000379.4(XDH):c.545A>G (p.Asn182Ser) rs770109772 0.00002
NM_000379.4(XDH):c.600G>A (p.Glu200=) rs779192880 0.00002
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
NM_017947.4(MOCOS):c.1232C>T (p.Ala411Val) rs755340405 0.00002
NM_017947.4(MOCOS):c.1905C>T (p.Cys635=) rs910676616 0.00002
NM_017947.4(MOCOS):c.1926C>T (p.Asp642=) rs143158108 0.00002
NM_017947.4(MOCOS):c.2155C>T (p.His719Tyr) rs754083460 0.00002
NM_017947.4(MOCOS):c.2164+2T>C rs1164875023 0.00002
NM_017947.4(MOCOS):c.2515-1G>A rs758451365 0.00002
NM_017947.4(MOCOS):c.2527A>G (p.Met843Val) rs747252798 0.00002
NM_017947.4(MOCOS):c.362C>T (p.Thr121Met) rs770229881 0.00002
NM_017947.4(MOCOS):c.912C>A (p.Phe304Leu) rs778641341 0.00002
NM_000379.4(XDH):c.1103G>T (p.Ser368Ile) rs776912338 0.00001
NM_000379.4(XDH):c.1282G>A (p.Glu428Lys) rs1050893739 0.00001
NM_000379.4(XDH):c.1456G>A (p.Val486Met) rs750077909 0.00001
NM_000379.4(XDH):c.1575G>C (p.Gln525His) rs1483259175 0.00001
NM_000379.4(XDH):c.1581G>A (p.Leu527=) rs138859065 0.00001
NM_000379.4(XDH):c.1686+19T>C rs1377777880 0.00001
NM_000379.4(XDH):c.1737C>G (p.Pro579=) rs376148012 0.00001
NM_000379.4(XDH):c.2074G>A (p.Glu692Lys) rs772739492 0.00001
NM_000379.4(XDH):c.2146G>A (p.Glu716Lys) rs267599347 0.00001
NM_000379.4(XDH):c.225C>G (p.Ala75=) rs368792036 0.00001
NM_000379.4(XDH):c.2274del (p.Glu760fs) rs760186813 0.00001
NM_000379.4(XDH):c.2281A>G (p.Met761Val) rs762730020 0.00001
NM_000379.4(XDH):c.2433G>A (p.Thr811=) rs757886455 0.00001
NM_000379.4(XDH):c.2484G>A (p.Leu828=) rs1312917059 0.00001
NM_000379.4(XDH):c.2493T>C (p.Asp831=) rs200505239 0.00001
NM_000379.4(XDH):c.2544+10G>A rs369796722 0.00001
NM_000379.4(XDH):c.2603T>G (p.Val868Gly) rs1296028517 0.00001
NM_000379.4(XDH):c.2728A>G (p.Thr910Ala) rs1426236024 0.00001
NM_000379.4(XDH):c.2804G>C (p.Cys935Ser) rs762800111 0.00001
NM_000379.4(XDH):c.2823+3A>G rs776815171 0.00001
NM_000379.4(XDH):c.2858T>G (p.Leu953Arg) rs137975977 0.00001
NM_000379.4(XDH):c.2873A>G (p.Gln958Arg) rs753754469 0.00001
NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly) rs777296789 0.00001
NM_000379.4(XDH):c.3276+6G>A rs200684126 0.00001
NM_000379.4(XDH):c.340G>A (p.Gly114Arg) rs770700444 0.00001
NM_000379.4(XDH):c.3432G>T (p.Glu1144Asp) rs200349996 0.00001
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) rs142988357 0.00001
NM_000379.4(XDH):c.3519+13C>G rs923415065 0.00001
NM_000379.4(XDH):c.3586-9A>G rs374510232 0.00001
NM_000379.4(XDH):c.3638A>G (p.His1213Arg) rs368774203 0.00001
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) rs751921838 0.00001
NM_000379.4(XDH):c.3948C>T (p.Thr1316=) rs1169348675 0.00001
NM_000379.4(XDH):c.3994A>G (p.Arg1332Gly) rs780939136 0.00001
NM_000379.4(XDH):c.534T>C (p.Asn178=) rs762679791 0.00001
NM_000379.4(XDH):c.565-17G>A rs1207902172 0.00001
NM_000379.4(XDH):c.635T>C (p.Phe212Ser) rs1351096563 0.00001
NM_000379.4(XDH):c.651+1G>A rs764196019 0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_000379.4(XDH):c.724C>G (p.Leu242Val) rs773771252 0.00001
NM_000379.4(XDH):c.826C>T (p.Pro276Ser) rs1442917442 0.00001
NM_000379.4(XDH):c.887-17C>T rs372070057 0.00001
NM_000379.4(XDH):c.887-1G>A rs1383065231 0.00001
NM_000379.4(XDH):c.98A>G (p.Lys33Arg) rs146551089 0.00001
NM_017947.4(MOCOS):c.1020T>A (p.Gly340=) rs751808609 0.00001
NM_017947.4(MOCOS):c.1202T>C (p.Ile401Thr) rs1555651772 0.00001
NM_017947.4(MOCOS):c.1219-4G>A rs761900858 0.00001
NM_017947.4(MOCOS):c.1335+1G>T rs1318625944 0.00001
NM_017947.4(MOCOS):c.133C>T (p.Arg45Cys) rs759622598 0.00001
NM_017947.4(MOCOS):c.1349G>C (p.Cys450Ser) rs896398393 0.00001
NM_017947.4(MOCOS):c.134G>A (p.Arg45His) rs1278187193 0.00001
NM_017947.4(MOCOS):c.1425G>A (p.Leu475=) rs531863176 0.00001
NM_017947.4(MOCOS):c.1850T>C (p.Met617Thr) rs368198282 0.00001
NM_017947.4(MOCOS):c.1897C>T (p.Arg633Trp) rs372021256 0.00001
NM_017947.4(MOCOS):c.1960+13C>T rs780074634 0.00001
NM_017947.4(MOCOS):c.1961-9G>C rs747106888 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_017947.4(MOCOS):c.252C>T (p.Asn84=) rs778824731 0.00001
NM_017947.4(MOCOS):c.2622T>A (p.Gly874=) rs757456599 0.00001
NM_017947.4(MOCOS):c.305T>A (p.Leu102Gln) rs770912506 0.00001
NM_017947.4(MOCOS):c.413C>T (p.Pro138Leu) rs934855065 0.00001
NM_017947.4(MOCOS):c.653A>T (p.Glu218Val) rs758893848 0.00001
NM_017947.4(MOCOS):c.799G>A (p.Gly267Arg) rs370660891 0.00001
NM_017947.4(MOCOS):c.916del (p.Ile306fs) rs775406459 0.00001
NC_000002.11:g.(?_31558824)_(31637532_?)del
NC_000002.11:g.(?_31558824)_(31637532_?)dup
NC_000002.11:g.(?_31587004)_(31587130_?)del
NC_000002.11:g.(?_31588418)_(31589011_?)del
NC_000002.11:g.(?_31598226)_(31805969_?)dup
NC_000002.12:g.(?_31375360)_(31414686_?)dup
NM_000379.4(XDH):c.100+15G>C
NM_000379.4(XDH):c.100+3A>G
NM_000379.4(XDH):c.1004G>A (p.Arg335His)
NM_000379.4(XDH):c.101-8C>T
NM_000379.4(XDH):c.1020G>A (p.Lys340=)
NM_000379.4(XDH):c.1038+13C>G
NM_000379.4(XDH):c.1038G>A (p.Ala346=) rs557992688
NM_000379.4(XDH):c.1050G>C (p.Gly350=) rs772619207
NM_000379.4(XDH):c.1077C>T (p.Ser359=)
NM_000379.4(XDH):c.1089C>T (p.Pro363=) rs267599349
NM_000379.4(XDH):c.1104T>C (p.Ser368=)
NM_000379.4(XDH):c.1108G>A (p.Ala370Thr)
NM_000379.4(XDH):c.1208T>C (p.Ile403Thr)
NM_000379.4(XDH):c.1212G>A (p.Leu404=)
NM_000379.4(XDH):c.1299G>T (p.Lys433Asn)
NM_000379.4(XDH):c.1316G>C (p.Arg439Thr)
NM_000379.4(XDH):c.1323A>G (p.Leu441=)
NM_000379.4(XDH):c.1327A>C (p.Lys443Gln)
NM_000379.4(XDH):c.1343_1350del (p.Glu448fs) rs2148776171
NM_000379.4(XDH):c.134del (p.Glu45fs)
NM_000379.4(XDH):c.135G>A (p.Glu45=)
NM_000379.4(XDH):c.135G>C (p.Glu45Asp) rs150847028
NM_000379.4(XDH):c.1406C>T (p.Thr469Ile)
NM_000379.4(XDH):c.140dup (p.Cys48fs) rs773456900
NM_000379.4(XDH):c.1425C>A (p.Ser475=)
NM_000379.4(XDH):c.1427+18A>G
NM_000379.4(XDH):c.1428-16C>A rs778406731
NM_000379.4(XDH):c.1428-18C>T
NM_000379.4(XDH):c.144C>T (p.Cys48=)
NM_000379.4(XDH):c.1455C>T (p.Asp485=)
NM_000379.4(XDH):c.1480C>A (p.Leu494Met) rs767352182
NM_000379.4(XDH):c.1494C>T (p.Pro498=)
NM_000379.4(XDH):c.150_155del (p.Cys51_Thr52del)
NM_000379.4(XDH):c.1510A>G (p.Met504Val) rs2148774872
NM_000379.4(XDH):c.1523G>C (p.Arg508Pro)
NM_000379.4(XDH):c.1528A>G (p.Thr510Ala)
NM_000379.4(XDH):c.156A>G (p.Thr52=)
NM_000379.4(XDH):c.157G>C (p.Val53Leu)
NM_000379.4(XDH):c.1590G>T (p.Glu530Asp)
NM_000379.4(XDH):c.1661C>T (p.Pro554Leu)
NM_000379.4(XDH):c.1662C>T (p.Pro554=)
NM_000379.4(XDH):c.1663C>A (p.Pro555Thr) rs45577338
NM_000379.4(XDH):c.1663C>T (p.Pro555Ser) rs45577338
NM_000379.4(XDH):c.1664dup (p.Ala556fs)
NM_000379.4(XDH):c.1683C>T (p.Phe561=)
NM_000379.4(XDH):c.1686+15T>C
NM_000379.4(XDH):c.1686+4A>T
NM_000379.4(XDH):c.1735C>T (p.Pro579Ser)
NM_000379.4(XDH):c.173A>G (p.Tyr58Cys)
NM_000379.4(XDH):c.1856+13G>A
NM_000379.4(XDH):c.1856+5G>C
NM_000379.4(XDH):c.1885G>A (p.Val629Ile) rs148464316
NM_000379.4(XDH):c.1885G>T (p.Val629Phe) rs148464316
NM_000379.4(XDH):c.1929G>A (p.Gly643=) rs375460228
NM_000379.4(XDH):c.1929G>T (p.Gly643=) rs375460228
NM_000379.4(XDH):c.1949G>C (p.Cys650Ser)
NM_000379.4(XDH):c.197+6del
NM_000379.4(XDH):c.198-4C>T
NM_000379.4(XDH):c.1980+19del
NM_000379.4(XDH):c.1981-10C>T
NM_000379.4(XDH):c.2031A>T (p.Glu677Asp)
NM_000379.4(XDH):c.2100+19_2100+22del rs45446491
NM_000379.4(XDH):c.2100+20C>A
NM_000379.4(XDH):c.2145C>T (p.Ile715=) rs267599348
NM_000379.4(XDH):c.2163G>A (p.Lys721=)
NM_000379.4(XDH):c.2173T>G (p.Ser725Ala)
NM_000379.4(XDH):c.2187TGT[1] (p.Val731del) rs760761330
NM_000379.4(XDH):c.2197+17_2197+26del
NM_000379.4(XDH):c.21T>C (p.Val7=)
NM_000379.4(XDH):c.2209A>G (p.Ile737Val) rs1685931438
NM_000379.4(XDH):c.2246G>A (p.Cys749Tyr)
NM_000379.4(XDH):c.2267G>A (p.Gly756Asp)
NM_000379.4(XDH):c.2322+6T>G
NM_000379.4(XDH):c.2323-9C>T
NM_000379.4(XDH):c.2368G>T (p.Val790Phe)
NM_000379.4(XDH):c.2456+3G>A
NM_000379.4(XDH):c.2457-12G>A
NM_000379.4(XDH):c.2457-2A>G
NM_000379.4(XDH):c.2457-9A>G
NM_000379.4(XDH):c.2464C>T (p.Arg822Cys)
NM_000379.4(XDH):c.2465G>A (p.Arg822His)
NM_000379.4(XDH):c.2473C>T (p.Arg825Ter)
NM_000379.4(XDH):c.2540A>G (p.Tyr847Cys) rs1311232806
NM_000379.4(XDH):c.2544+19G>A
NM_000379.4(XDH):c.2545-20C>T
NM_000379.4(XDH):c.2545-5A>G
NM_000379.4(XDH):c.2564G>A (p.Gly855Glu)
NM_000379.4(XDH):c.2582A>G (p.Glu861Gly)
NM_000379.4(XDH):c.2592C>T (p.His864=) rs368056609
NM_000379.4(XDH):c.2620C>T (p.Leu874Phe)
NM_000379.4(XDH):c.2631+19C>T
NM_000379.4(XDH):c.2631+8G>A
NM_000379.4(XDH):c.2632-11C>G
NM_000379.4(XDH):c.2639A>T (p.Glu880Val)
NM_000379.4(XDH):c.2642G>A (p.Arg881Gln)
NM_000379.4(XDH):c.2654A>G (p.His885Arg)
NM_000379.4(XDH):c.2666G>C (p.Cys889Ser)
NM_000379.4(XDH):c.2676C>G (p.Ile892Met) rs200911206
NM_000379.4(XDH):c.2685C>T (p.Ile895=)
NM_000379.4(XDH):c.2703G>A (p.Leu901=) rs2148756811
NM_000379.4(XDH):c.2706C>T (p.Cys902=) rs955933583
NM_000379.4(XDH):c.2730G>A (p.Thr910=) rs376072451
NM_000379.4(XDH):c.2737C>T (p.Arg913Trp)
NM_000379.4(XDH):c.2751G>A (p.Gly917=) rs369230654
NM_000379.4(XDH):c.2751dup (p.Pro918fs)
NM_000379.4(XDH):c.2772C>T (p.Ala924=)
NM_000379.4(XDH):c.278G>A (p.Ser93Asn) rs2148006233
NM_000379.4(XDH):c.2827C>T (p.Arg943Trp)
NM_000379.4(XDH):c.2832A>G (p.Arg944=) rs776261460
NM_000379.4(XDH):c.2853G>A (p.Gly951=)
NM_000379.4(XDH):c.2895G>T (p.Leu965Phe)
NM_000379.4(XDH):c.2915_2916delinsTT (p.Cys972Phe) rs2148756357
NM_000379.4(XDH):c.2916C>T (p.Cys972=)
NM_000379.4(XDH):c.2919A>G (p.Leu973=)
NM_000379.4(XDH):c.291G>T (p.Arg97Ser)
NM_000379.4(XDH):c.292C>T (p.Leu98=)
NM_000379.4(XDH):c.2941C>T (p.Arg981Trp)
NM_000379.4(XDH):c.2942G>T (p.Arg981Leu)
NM_000379.4(XDH):c.2969+66dup rs11408029
NM_000379.4(XDH):c.2969A>G (p.Lys990Arg)
NM_000379.4(XDH):c.2970-10T>C
NM_000379.4(XDH):c.3052-2A>G rs2148755274
NM_000379.4(XDH):c.306+19G>A
NM_000379.4(XDH):c.307-11G>A
NM_000379.4(XDH):c.3103G>A (p.Gly1035Arg)
NM_000379.4(XDH):c.3144C>G (p.Val1048=)
NM_000379.4(XDH):c.3147+10C>G
NM_000379.4(XDH):c.3147+12T>C
NM_000379.4(XDH):c.3148-19A>G
NM_000379.4(XDH):c.3148-4G>C rs545686434
NM_000379.4(XDH):c.3165G>A (p.Leu1055=) rs2148754583
NM_000379.4(XDH):c.3200C>T (p.Thr1067Ile)
NM_000379.4(XDH):c.3206C>G (p.Thr1069Ser) rs1685335731
NM_000379.4(XDH):c.3233C>T (p.Thr1078Met)
NM_000379.4(XDH):c.324C>T (p.Ser108=)
NM_000379.4(XDH):c.3263G>C (p.Gly1088Ala) rs201855759
NM_000379.4(XDH):c.3270C>T (p.Ala1090=)
NM_000379.4(XDH):c.3271G>A (p.Val1091Ile) rs45619033
NM_000379.4(XDH):c.3276+19C>T
NM_000379.4(XDH):c.3276+3A>G
NM_000379.4(XDH):c.3277-18G>T
NM_000379.4(XDH):c.3277-3del rs767762797
NM_000379.4(XDH):c.3310C>T (p.Pro1104Ser)
NM_000379.4(XDH):c.3351+10A>C
NM_000379.4(XDH):c.3351G>C (p.Trp1117Cys)
NM_000379.4(XDH):c.3392C>T (p.Thr1131Ile) rs550042471
NM_000379.4(XDH):c.3401A>G (p.Tyr1134Cys)
NM_000379.4(XDH):c.3404+10G>C rs773067358
NM_000379.4(XDH):c.3404+17C>T
NM_000379.4(XDH):c.3467A>G (p.Tyr1156Cys)
NM_000379.4(XDH):c.3497A>T (p.Asp1166Val)
NM_000379.4(XDH):c.3507del (p.Gly1170fs) rs1558674294
NM_000379.4(XDH):c.3519G>C (p.Lys1173Asn) rs1457219256
NM_000379.4(XDH):c.3520-14G>T
NM_000379.4(XDH):c.3522C>A (p.Asn1174Lys)
NM_000379.4(XDH):c.3549T>G (p.Val1183=)
NM_000379.4(XDH):c.3562A>C (p.Asn1188His) rs1685119218
NM_000379.4(XDH):c.3576T>C (p.Asp1192=)
NM_000379.4(XDH):c.3582A>T (p.Gly1194=) rs2148749760
NM_000379.4(XDH):c.3585+20G>C
NM_000379.4(XDH):c.3585+6G>C
NM_000379.4(XDH):c.3586-17C>T
NM_000379.4(XDH):c.3586-21_3586-20del rs531981113
NM_000379.4(XDH):c.360C>T (p.Ile120=)
NM_000379.4(XDH):c.3615C>A (p.Gly1205=)
NM_000379.4(XDH):c.3648C>T (p.Pro1216=)
NM_000379.4(XDH):c.364A>T (p.Met122Leu)
NM_000379.4(XDH):c.3668G>A (p.Arg1223His)
NM_000379.4(XDH):c.366G>A (p.Met122Ile)
NM_000379.4(XDH):c.3671G>T (p.Gly1224Val)
NM_000379.4(XDH):c.3693G>A (p.Pro1231=)
NM_000379.4(XDH):c.3711del (p.Ile1238fs)
NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe) rs375290824
NM_000379.4(XDH):c.3764A>T (p.Tyr1255Phe)
NM_000379.4(XDH):c.3768A>T (p.Ala1256=)
NM_000379.4(XDH):c.3774+17T>A
NM_000379.4(XDH):c.3775-7T>C
NM_000379.4(XDH):c.3822C>T (p.Ala1274=)
NM_000379.4(XDH):c.3829G>C (p.Asp1277His)
NM_000379.4(XDH):c.3867T>C (p.Asn1289=)
NM_000379.4(XDH):c.3894C>G (p.Asp1298Glu)
NM_000379.4(XDH):c.3908C>T (p.Pro1303Leu)
NM_000379.4(XDH):c.3943_3949dup (p.Leu1317fs)
NM_000379.4(XDH):c.3951+5G>T
NM_000379.4(XDH):c.3959C>G (p.Thr1320Ser)
NM_000379.4(XDH):c.401C>T (p.Pro134Leu)
NM_000379.4(XDH):c.433+18C>T
NM_000379.4(XDH):c.434-14T>G
NM_000379.4(XDH):c.434-19dup rs747562658
NM_000379.4(XDH):c.434-4A>G
NM_000379.4(XDH):c.460A>G (p.Arg154Gly) rs1428180502
NM_000379.4(XDH):c.468C>T (p.Ile156=)
NM_000379.4(XDH):c.469C>T (p.Leu157Phe)
NM_000379.4(XDH):c.481C>T (p.Arg161Trp)
NM_000379.4(XDH):c.484A>G (p.Thr162Ala)
NM_000379.4(XDH):c.48G>A (p.Val16=) rs2148010588
NM_000379.4(XDH):c.495+14C>T
NM_000379.4(XDH):c.495+8G>A rs2148003135
NM_000379.4(XDH):c.496-14C>A
NM_000379.4(XDH):c.522G>T (p.Gly174=)
NM_000379.4(XDH):c.547C>T (p.Gln183Ter)
NM_000379.4(XDH):c.561C>T (p.His187=)
NM_000379.4(XDH):c.564+14_564+16del
NM_000379.4(XDH):c.565-14C>G
NM_000379.4(XDH):c.565-1G>A rs1021978271
NM_000379.4(XDH):c.565-5C>T
NM_000379.4(XDH):c.575C>A (p.Ser192Ter)
NM_000379.4(XDH):c.575C>T (p.Ser192Leu)
NM_000379.4(XDH):c.576G>A (p.Ser192=)
NM_000379.4(XDH):c.598G>T (p.Glu200Ter) rs2147994449
NM_000379.4(XDH):c.641del (p.Pro214fs) rs778685046
NM_000379.4(XDH):c.654G>A (p.Arg218=)
NM_000379.4(XDH):c.657G>A (p.Leu219=)
NM_000379.4(XDH):c.697C>T (p.Arg233Cys)
NM_000379.4(XDH):c.705G>A (p.Thr235=)
NM_000379.4(XDH):c.717C>T (p.Ala239=) rs763393500
NM_000379.4(XDH):c.744C>A (p.Leu248=) rs1558307331
NM_000379.4(XDH):c.751C>T (p.Gln251Ter)
NM_000379.4(XDH):c.752A>G (p.Gln251Arg)
NM_000379.4(XDH):c.762C>A (p.Asp254Glu) rs140858800
NM_000379.4(XDH):c.762C>T (p.Asp254=)
NM_000379.4(XDH):c.763G>A (p.Ala255Thr)
NM_000379.4(XDH):c.775G>A (p.Val259Met) rs373279221
NM_000379.4(XDH):c.78T>C (p.Leu26=)
NM_000379.4(XDH):c.793+19G>T
NM_000379.4(XDH):c.793+20C>T
NM_000379.4(XDH):c.794-12G>A
NM_000379.4(XDH):c.794-18C>T rs2148782478
NM_000379.4(XDH):c.794-6C>G
NM_000379.4(XDH):c.82G>A (p.Ala28Thr)
NM_000379.4(XDH):c.837C>G (p.Val279=)
NM_000379.4(XDH):c.851_862del (p.Ile284_Leu287del)
NM_000379.4(XDH):c.856G>C (p.Glu286Gln)
NM_000379.4(XDH):c.866C>T (p.Ser289Leu)
NM_000379.4(XDH):c.879A>G (p.Gly293=)
NM_000379.4(XDH):c.886+10G>C
NM_000379.4(XDH):c.887-16G>A
NM_000379.4(XDH):c.887-8G>A
NM_000379.4(XDH):c.909C>T (p.Cys303=)
NM_000379.4(XDH):c.912C>T (p.Pro304=)
NM_000379.4(XDH):c.915G>C (p.Leu305=)
NM_000379.4(XDH):c.922G>C (p.Val308Leu)
NM_000379.4(XDH):c.953A>T (p.Lys318Met)
NM_000379.4(XDH):c.974A>C (p.Glu325Ala)
NM_000379.4(XDH):c.988G>A (p.Val330Ile) rs1686479998
NM_017947.4(MOCOS):c.1010G>A (p.Arg337His)
NM_017947.4(MOCOS):c.1018+17A>G
NM_017947.4(MOCOS):c.1018+20C>T
NM_017947.4(MOCOS):c.1018+9A>T
NM_017947.4(MOCOS):c.1019-15C>T
NM_017947.4(MOCOS):c.1037dup (p.Gln347fs) rs886037855
NM_017947.4(MOCOS):c.1061A>G (p.Gln354Arg)
NM_017947.4(MOCOS):c.1071_1072delinsTA (p.Val358Met)
NM_017947.4(MOCOS):c.1072G>A (p.Val358Met) rs678560
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs) rs761752580
NM_017947.4(MOCOS):c.1093T>C (p.Tyr365His) rs753847410
NM_017947.4(MOCOS):c.1100A>G (p.Asn367Ser)
NM_017947.4(MOCOS):c.1106C>A (p.Ala369Asp)
NM_017947.4(MOCOS):c.1117C>T (p.Arg373Trp) rs200895405
NM_017947.4(MOCOS):c.1164_1165delinsGG (p.Ile389Val)
NM_017947.4(MOCOS):c.1182G>A (p.Val394=) rs770827269
NM_017947.4(MOCOS):c.1218+1G>C
NM_017947.4(MOCOS):c.1219-5C>T
NM_017947.4(MOCOS):c.1233C>A (p.Ala411=)
NM_017947.4(MOCOS):c.1257A>T (p.Arg419=)
NM_017947.4(MOCOS):c.1311C>T (p.Asn437=)
NM_017947.4(MOCOS):c.1312G>C (p.Glu438Gln)
NM_017947.4(MOCOS):c.1335+18C>T
NM_017947.4(MOCOS):c.1336-5_1336-4insAA
NM_017947.4(MOCOS):c.1367T>C (p.Leu456Pro) rs866172904
NM_017947.4(MOCOS):c.1414A>T (p.Met472Leu) rs2091472874
NM_017947.4(MOCOS):c.142+16_142+19dup rs780090086
NM_017947.4(MOCOS):c.143-21_143-13del rs749356320
NM_017947.4(MOCOS):c.1455C>T (p.Ile485=)
NM_017947.4(MOCOS):c.14C>T (p.Ala5Val) rs1262805938
NM_017947.4(MOCOS):c.1516G>A (p.Gly506Arg) rs149198061
NM_017947.4(MOCOS):c.1516G>T (p.Gly506Trp) rs149198061
NM_017947.4(MOCOS):c.1532C>A (p.Pro511Gln)
NM_017947.4(MOCOS):c.1557T>G (p.Val519=) rs2144917132
NM_017947.4(MOCOS):c.1559T>C (p.Ile520Thr)
NM_017947.4(MOCOS):c.1563T>C (p.Pro521=) rs1216061841
NM_017947.4(MOCOS):c.1629C>G (p.Asn543Lys) rs138424306
NM_017947.4(MOCOS):c.1665dup (p.Pro556fs) rs2091474513
NM_017947.4(MOCOS):c.1680C>A (p.Val560=)
NM_017947.4(MOCOS):c.1680C>T (p.Val560=)
NM_017947.4(MOCOS):c.1692G>A (p.Gln564=) rs1598878424
NM_017947.4(MOCOS):c.169G>C (p.Ala57Pro) rs886037854
NM_017947.4(MOCOS):c.171C>T (p.Ala57=) rs2144896102
NM_017947.4(MOCOS):c.1740G>A (p.Gly580=)
NM_017947.4(MOCOS):c.1767_1768del (p.Tyr590fs)
NM_017947.4(MOCOS):c.1797+20C>T
NM_017947.4(MOCOS):c.1809G>A (p.Trp603Ter)
NM_017947.4(MOCOS):c.1820A>G (p.Asn607Ser)
NM_017947.4(MOCOS):c.1893A>C (p.Glu631Asp) rs1598880124
NM_017947.4(MOCOS):c.1930C>T (p.Arg644Trp) rs757679830
NM_017947.4(MOCOS):c.1953A>G (p.Lys651=)
NM_017947.4(MOCOS):c.1960+2_1960+3del
NM_017947.4(MOCOS):c.1968G>T (p.Glu656Asp) rs188606897
NM_017947.4(MOCOS):c.1973T>C (p.Ile658Thr)
NM_017947.4(MOCOS):c.2002C>T (p.Arg668Trp)
NM_017947.4(MOCOS):c.2003G>A (p.Arg668Gln)
NM_017947.4(MOCOS):c.2033C>T (p.Ala678Val)
NM_017947.4(MOCOS):c.2039+17C>G rs567458
NM_017947.4(MOCOS):c.2039+18G>T
NM_017947.4(MOCOS):c.2040-16C>G
NM_017947.4(MOCOS):c.204C>T (p.Phe68=)
NM_017947.4(MOCOS):c.2142T>G (p.Asn714Lys) rs780328227
NM_017947.4(MOCOS):c.2164+1del
NM_017947.4(MOCOS):c.2186C>T (p.Ala729Val) rs2144147591
NM_017947.4(MOCOS):c.2195C>T (p.Ser732Phe)
NM_017947.4(MOCOS):c.2214G>A (p.Gln738=)
NM_017947.4(MOCOS):c.2232A>C (p.Thr744=)
NM_017947.4(MOCOS):c.2237G>A (p.Ser746Asn)
NM_017947.4(MOCOS):c.2260C>G (p.Leu754Val)
NM_017947.4(MOCOS):c.2268del (p.Ser757fs)
NM_017947.4(MOCOS):c.2270G>A (p.Ser757Asn)
NM_017947.4(MOCOS):c.231T>C (p.Tyr77=)
NM_017947.4(MOCOS):c.232+1G>A
NM_017947.4(MOCOS):c.2320C>T (p.Arg774Cys)
NM_017947.4(MOCOS):c.233-12G>T
NM_017947.4(MOCOS):c.233-20T>G
NM_017947.4(MOCOS):c.2339T>C (p.Ile780Thr) rs2144151823
NM_017947.4(MOCOS):c.2376G>A (p.Trp792Ter)
NM_017947.4(MOCOS):c.2392G>A (p.Gly798Ser)
NM_017947.4(MOCOS):c.2407C>G (p.Gln803Glu) rs774534818
NM_017947.4(MOCOS):c.2409+5G>T rs1462309469
NM_017947.4(MOCOS):c.2410-3C>T
NM_017947.4(MOCOS):c.2416G>A (p.Gly806Arg)
NM_017947.4(MOCOS):c.2419C>A (p.Pro807Thr)
NM_017947.4(MOCOS):c.2453A>G (p.Gln818Arg) rs2091683459
NM_017947.4(MOCOS):c.2514+6C>T
NM_017947.4(MOCOS):c.2538G>A (p.Met846Ile)
NM_017947.4(MOCOS):c.2541T>C (p.His847=)
NM_017947.4(MOCOS):c.2546C>T (p.Ser849Leu)
NM_017947.4(MOCOS):c.2608G>C (p.Glu870Gln)
NM_017947.4(MOCOS):c.2649C>A (p.His883Gln)
NM_017947.4(MOCOS):c.2649C>T (p.His883=) rs746148451
NM_017947.4(MOCOS):c.277A>G (p.Thr93Ala) rs890456473
NM_017947.4(MOCOS):c.289G>C (p.Val97Leu) rs150451100
NM_017947.4(MOCOS):c.289G>T (p.Val97Leu)
NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)
NM_017947.4(MOCOS):c.300-13G>A
NM_017947.4(MOCOS):c.337A>G (p.Thr113Ala)
NM_017947.4(MOCOS):c.42del (p.Phe15fs)
NM_017947.4(MOCOS):c.442C>T (p.Leu148Phe) rs2144900693
NM_017947.4(MOCOS):c.462C>A (p.Ser154=)
NM_017947.4(MOCOS):c.462C>T (p.Ser154=) rs373748036
NM_017947.4(MOCOS):c.47C>T (p.Ala16Val)
NM_017947.4(MOCOS):c.481G>A (p.Val161Met)
NM_017947.4(MOCOS):c.49G>T (p.Gly17Cys) rs1183643394
NM_017947.4(MOCOS):c.4G>A (p.Ala2Thr)
NM_017947.4(MOCOS):c.513G>A (p.Pro171=)
NM_017947.4(MOCOS):c.517A>G (p.Arg173Gly)
NM_017947.4(MOCOS):c.541G>A (p.Glu181Lys) rs1598871599
NM_017947.4(MOCOS):c.547C>T (p.Arg183Cys)
NM_017947.4(MOCOS):c.54C>T (p.Ser18=) rs2144887356
NM_017947.4(MOCOS):c.567C>T (p.Asn189=)
NM_017947.4(MOCOS):c.603A>T (p.Pro201=)
NM_017947.4(MOCOS):c.605C>G (p.Ala202Gly)
NM_017947.4(MOCOS):c.627C>G (p.Val209=)
NM_017947.4(MOCOS):c.668G>A (p.Arg223Gln)
NM_017947.4(MOCOS):c.679G>A (p.Val227Met)
NM_017947.4(MOCOS):c.687G>A (p.Thr229=)
NM_017947.4(MOCOS):c.693G>A (p.Gly231=)
NM_017947.4(MOCOS):c.736T>C (p.Ser246Pro)
NM_017947.4(MOCOS):c.738G>A (p.Ser246=)
NM_017947.4(MOCOS):c.739C>G (p.Pro247Ala)
NM_017947.4(MOCOS):c.788A>G (p.Tyr263Cys)
NM_017947.4(MOCOS):c.7G>C (p.Gly3Arg)
NM_017947.4(MOCOS):c.819C>T (p.Gly273=)
NM_017947.4(MOCOS):c.838C>T (p.Arg280Cys)
NM_017947.4(MOCOS):c.850C>T (p.Leu284=)
NM_017947.4(MOCOS):c.863C>A (p.Thr288Asn)
NM_017947.4(MOCOS):c.890C>A (p.Ala297Glu) rs139002197
NM_017947.4(MOCOS):c.890C>T (p.Ala297Val) rs139002197
NM_017947.4(MOCOS):c.899C>T (p.Ala300Val)
NM_017947.4(MOCOS):c.89A>G (p.Tyr30Cys)
NM_017947.4(MOCOS):c.8G>C (p.Gly3Ala)
NM_017947.4(MOCOS):c.91G>T (p.Gly31Cys) rs2091346501
NM_017947.4(MOCOS):c.929C>T (p.Ser310Leu)
NM_017947.4(MOCOS):c.941+16G>C
NM_017947.4(MOCOS):c.941+23del rs544708547
NM_017947.4(MOCOS):c.972T>C (p.Asp324=)
NM_017947.4(MOCOS):c.979G>A (p.Ala327Thr)
NM_017947.4(MOCOS):c.980C>T (p.Ala327Val)

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