ClinVar Miner

List of variants in gene SPINK5 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 779
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.2313+48G>A rs9325074 0.79044
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_006846.4(SPINK5):c.82-31A>G rs1423001 0.74351
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_006846.4(SPINK5):c.2241-26T>C rs3764926 0.56233
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_006846.4(SPINK5):c.882+45_882+46insT rs76839946 0.51324
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_006846.4(SPINK5):c.882+20A>G rs11958432 0.45982
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1302+19G>A rs2303068 0.44163
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1093-26C>T rs2303061 0.44132
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_006846.4(SPINK5):c.1693-32C>T rs2287769 0.14805
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NC_000005.10:g.148063797G>A rs2287774 0.03115
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_006846.4(SPINK5):c.2113-18G>A rs73271150 0.01592
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=) rs77756935 0.00345
NM_006846.4(SPINK5):c.2442-16A>G rs148657069 0.00338
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_006846.4(SPINK5):c.1302+16C>T rs112708641 0.00241
NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775 0.00145
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_006846.4(SPINK5):c.2382T>C (p.Pro794=) rs188840406 0.00105
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183 0.00064
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) rs200884153 0.00058
NM_006846.4(SPINK5):c.598C>T (p.Leu200=) rs114784178 0.00058
NM_006846.4(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491 0.00041
NM_006846.4(SPINK5):c.603-3C>T rs185217593 0.00038
NM_006846.4(SPINK5):c.803G>A (p.Arg268His) rs375727921 0.00035
NM_006846.4(SPINK5):c.1480-3C>T rs765586289 0.00029
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_006846.4(SPINK5):c.394C>T (p.Leu132=) rs368159711 0.00026
NM_006846.4(SPINK5):c.551G>A (p.Gly184Asp) rs201812473 0.00024
NM_006846.4(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688 0.00021
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) rs199793551 0.00021
NM_006846.4(SPINK5):c.1221-8T>C rs761917047 0.00019
NM_006846.4(SPINK5):c.1539G>A (p.Glu513=) rs184512279 0.00019
NM_006846.4(SPINK5):c.3189C>T (p.Asp1063=) rs200751535 0.00018
NM_006846.4(SPINK5):c.2127G>A (p.Glu709=) rs369323668 0.00015
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583 0.00015
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser) rs778383258 0.00014
NM_006846.4(SPINK5):c.*229A>C rs759149324 0.00013
NM_006846.4(SPINK5):c.1165C>G (p.Gln389Glu) rs371745897 0.00011
NM_006846.4(SPINK5):c.2113-19C>T rs199795770 0.00011
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_006846.4(SPINK5):c.456G>A (p.Lys152=) rs777350307 0.00011
NM_006846.4(SPINK5):c.666+18C>T rs371691086 0.00011
NM_006846.4(SPINK5):c.*301C>T rs187725907 0.00009
NM_006846.4(SPINK5):c.1078G>A (p.Ala360Thr) rs529385811 0.00009
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val) rs756226553 0.00009
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=) rs764541508 0.00009
NM_006846.4(SPINK5):c.2667-17_2667-16insG rs754273587 0.00009
NM_006846.4(SPINK5):c.1431-10T>G rs759079847 0.00008
NM_006846.4(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778 0.00008
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val) rs201433344 0.00008
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn) rs201879958 0.00008
NM_006846.4(SPINK5):c.1084T>A (p.Ser362Thr) rs375573803 0.00007
NM_006846.4(SPINK5):c.1607+7G>T rs541432320 0.00007
NM_006846.4(SPINK5):c.1712G>A (p.Arg571His) rs780631964 0.00007
NM_006846.4(SPINK5):c.1999A>G (p.Met667Val) rs370317811 0.00007
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=) rs759451448 0.00007
NM_006846.4(SPINK5):c.2369G>A (p.Arg790Gln) rs184189005 0.00007
NM_006846.4(SPINK5):c.2526C>T (p.Ser842=) rs765337620 0.00007
NM_006846.4(SPINK5):c.3153C>A (p.Thr1051=) rs751998226 0.00007
NM_006846.4(SPINK5):c.1093-4G>A rs754019195 0.00006
NM_006846.4(SPINK5):c.1134A>G (p.Lys378=) rs777273756 0.00006
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg) rs765752936 0.00006
NM_006846.4(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589 0.00006
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667 0.00006
NM_006846.4(SPINK5):c.1788C>T (p.His596=) rs144664803 0.00006
NM_006846.4(SPINK5):c.1820+11G>A rs796478719 0.00006
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp) rs369782107 0.00006
NM_006846.4(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938 0.00006
NM_006846.4(SPINK5):c.3035C>T (p.Pro1012Leu) rs373802380 0.00006
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr) rs990074605 0.00006
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr) rs778955846 0.00006
NM_006846.4(SPINK5):c.677A>G (p.Lys226Arg) rs370010334 0.00006
NM_006846.4(SPINK5):c.753C>T (p.Gly251=) rs376643233 0.00006
NM_006846.4(SPINK5):c.882+11G>A rs754144897 0.00006
NM_006846.4(SPINK5):c.*90G>A rs978677310 0.00005
NM_006846.4(SPINK5):c.1431-13C>T rs375240260 0.00005
NM_006846.4(SPINK5):c.1553G>A (p.Arg518His) rs576310290 0.00005
NM_006846.4(SPINK5):c.2115C>T (p.Asp705=) rs532661964 0.00005
NM_006846.4(SPINK5):c.2241-18C>T rs373831935 0.00005
NM_006846.4(SPINK5):c.2666+5G>A rs185897034 0.00005
NM_006846.4(SPINK5):c.2688A>G (p.Arg896=) rs202088540 0.00005
NM_006846.4(SPINK5):c.59C>T (p.Ala20Val) rs777592836 0.00005
NM_006846.4(SPINK5):c.1093-6C>T rs375060774 0.00004
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg) rs376109480 0.00004
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=) rs550949679 0.00004
NM_006846.4(SPINK5):c.1302+13C>A rs774406197 0.00004
NM_006846.4(SPINK5):c.1401C>T (p.Gly467=) rs374181561 0.00004
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val) rs201926841 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His) rs760761246 0.00004
NM_006846.4(SPINK5):c.1881T>A (p.Ala627=) rs377608943 0.00004
NM_006846.4(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367 0.00004
NM_006846.4(SPINK5):c.194C>T (p.Thr65Met) rs552548594 0.00004
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter) rs750789505 0.00004
NM_006846.4(SPINK5):c.2275C>T (p.Arg759Cys) rs374182762 0.00004
NM_006846.4(SPINK5):c.2276G>A (p.Arg759His) rs781193914 0.00004
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly) rs745918698 0.00004
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn) rs560325947 0.00004
NM_006846.4(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772 0.00004
NM_006846.4(SPINK5):c.3093C>T (p.Asn1031=) rs763979536 0.00004
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr) rs199498786 0.00004
NM_006846.4(SPINK5):c.389_392dup (p.Leu132fs) rs756874525 0.00004
NM_006846.4(SPINK5):c.418G>A (p.Gly140Arg) rs573158320 0.00004
NM_006846.4(SPINK5):c.450A>G (p.Glu150=) rs531000352 0.00004
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084 0.00004
NM_006846.4(SPINK5):c.48C>T (p.Leu16=) rs374054110 0.00004
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe) rs750627345 0.00004
NM_006846.4(SPINK5):c.834A>C (p.Gln278His) rs201354872 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006846.4(SPINK5):c.*78A>G rs774183421 0.00003
NM_006846.4(SPINK5):c.1034A>G (p.Lys345Arg) rs1461539646 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_006846.4(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282 0.00003
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys) rs771426270 0.00003
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn) rs754319450 0.00003
NM_006846.4(SPINK5):c.1903T>C (p.Phe635Leu) rs373738148 0.00003
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu) rs191160111 0.00003
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His) rs182767534 0.00003
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg) rs758718125 0.00003
NM_006846.4(SPINK5):c.2288A>T (p.Asn763Ile) rs80019167 0.00003
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys) rs774381522 0.00003
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys) rs188030639 0.00003
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter) rs192473445 0.00003
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659 0.00003
NM_006846.4(SPINK5):c.313A>G (p.Arg105Gly) rs371334869 0.00003
NM_006846.4(SPINK5):c.3187-16C>T rs376544708 0.00003
NM_006846.4(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169 0.00003
NM_006846.4(SPINK5):c.586A>G (p.Met196Val) rs757374670 0.00003
NM_006846.4(SPINK5):c.105A>T (p.Ala35=) rs200250655 0.00002
NM_006846.4(SPINK5):c.1061A>G (p.Lys354Arg) rs1164760968 0.00002
NM_006846.4(SPINK5):c.1135C>T (p.Leu379Phe) rs371578291 0.00002
NM_006846.4(SPINK5):c.1284G>A (p.Lys428=) rs748599818 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006846.4(SPINK5):c.1342C>T (p.Arg448Trp) rs767146937 0.00002
NM_006846.4(SPINK5):c.1343G>A (p.Arg448Gln) rs375796789 0.00002
NM_006846.4(SPINK5):c.1386T>C (p.Asp462=) rs772479299 0.00002
NM_006846.4(SPINK5):c.1563T>C (p.Asp521=) rs767576981 0.00002
NM_006846.4(SPINK5):c.1586G>A (p.Cys529Tyr) rs764286291 0.00002
NM_006846.4(SPINK5):c.1592T>G (p.Met531Arg) rs985590287 0.00002
NM_006846.4(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097 0.00002
NM_006846.4(SPINK5):c.1704T>C (p.Ser568=) rs778405919 0.00002
NM_006846.4(SPINK5):c.173T>C (p.Met58Thr) rs773557840 0.00002
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro) rs775502935 0.00002
NM_006846.4(SPINK5):c.1821-7C>G rs561379882 0.00002
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser) rs377031902 0.00002
NM_006846.4(SPINK5):c.1888-1G>A rs759255682 0.00002
NM_006846.4(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211 0.00002
NM_006846.4(SPINK5):c.1957G>C (p.Val653Leu) rs1754031572 0.00002
NM_006846.4(SPINK5):c.2015+13A>G rs777694047 0.00002
NM_006846.4(SPINK5):c.2016-16A>G rs199513906 0.00002
NM_006846.4(SPINK5):c.209+3G>A rs750310449 0.00002
NM_006846.4(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402 0.00002
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp) rs757605120 0.00002
NM_006846.4(SPINK5):c.2441+8T>C rs772766280 0.00002
NM_006846.4(SPINK5):c.2700T>C (p.Asp900=) rs761606280 0.00002
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=) rs773053071 0.00002
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter) rs776293648 0.00002
NM_006846.4(SPINK5):c.285G>C (p.Leu95=) rs1310041180 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.3048C>T (p.Asp1016=) rs1445049857 0.00002
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys) rs1414330619 0.00002
NM_006846.4(SPINK5):c.3096-6T>C rs766558047 0.00002
NM_006846.4(SPINK5):c.3101G>A (p.Arg1034His) rs775295911 0.00002
NM_006846.4(SPINK5):c.3112A>G (p.Thr1038Ala) rs753654044 0.00002
NM_006846.4(SPINK5):c.3130G>A (p.Gly1044Arg) rs749921895 0.00002
NM_006846.4(SPINK5):c.3182C>T (p.Pro1061Leu) rs771163069 0.00002
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868 0.00002
NM_006846.4(SPINK5):c.526A>G (p.Thr176Ala) rs200801701 0.00002
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter) rs367958902 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe) rs759053532 0.00002
NM_006846.4(SPINK5):c.984C>T (p.Asn328=) rs748427141 0.00002
NM_006846.4(SPINK5):c.1010+8T>C rs552155578 0.00001
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile) rs772944760 0.00001
NM_006846.4(SPINK5):c.1071T>G (p.Ser357=) rs561354824 0.00001
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=) rs750608792 0.00001
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr) rs746648914 0.00001
NM_006846.4(SPINK5):c.1245A>G (p.Lys415=) rs764133865 0.00001
NM_006846.4(SPINK5):c.1278A>C (p.Gln426His) rs747446927 0.00001
NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248 0.00001
NM_006846.4(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136 0.00001
NM_006846.4(SPINK5):c.1379G>T (p.Gly460Val) rs567331901 0.00001
NM_006846.4(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733 0.00001
NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr) rs762735202 0.00001
NM_006846.4(SPINK5):c.1430+8G>C rs773793214 0.00001
NM_006846.4(SPINK5):c.1607+5G>A rs1212523917 0.00001
NM_006846.4(SPINK5):c.1675A>G (p.Lys559Glu) rs777594346 0.00001
NM_006846.4(SPINK5):c.1692+19C>T rs200018020 0.00001
NM_006846.4(SPINK5):c.1693-14G>A rs1481248561 0.00001
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly) rs1326725036 0.00001
NM_006846.4(SPINK5):c.1820+53G>A rs754599628 0.00001
NM_006846.4(SPINK5):c.1821-4A>G rs1211543982 0.00001
NM_006846.4(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827 0.00001
NM_006846.4(SPINK5):c.1844A>G (p.Glu615Gly) rs749375299 0.00001
NM_006846.4(SPINK5):c.1869C>A (p.Val623=) rs867634208 0.00001
NM_006846.4(SPINK5):c.1898A>G (p.Asp633Gly) rs757295553 0.00001
NM_006846.4(SPINK5):c.2052G>A (p.Glu684=) rs371950840 0.00001
NM_006846.4(SPINK5):c.2078A>T (p.His693Leu) rs1033612713 0.00001
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys) rs761010013 0.00001
NM_006846.4(SPINK5):c.2134G>A (p.Glu712Lys) rs773035431 0.00001
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu) rs762624618 0.00001
NM_006846.4(SPINK5):c.2162G>A (p.Cys721Tyr) rs751402960 0.00001
NM_006846.4(SPINK5):c.2205G>A (p.Ser735=) rs768901845 0.00001
NM_006846.4(SPINK5):c.2240+1G>A rs775341740 0.00001
NM_006846.4(SPINK5):c.2265T>C (p.Asn755=) rs780560806 0.00001
NM_006846.4(SPINK5):c.2319A>G (p.Thr773=) rs910262229 0.00001
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421 0.00001
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala) rs756155612 0.00001
NM_006846.4(SPINK5):c.2387G>A (p.Arg796Gln) rs779242910 0.00001
NM_006846.4(SPINK5):c.2390G>A (p.Gly797Asp) rs1170375768 0.00001
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile) rs1212676320 0.00001
NM_006846.4(SPINK5):c.2441+1G>A rs1561701382 0.00001
NM_006846.4(SPINK5):c.246T>A (p.His82Gln) rs1348041325 0.00001
NM_006846.4(SPINK5):c.2538+16C>T rs766487151 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.2564T>C (p.Met855Thr) rs765056653 0.00001
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr) rs1185407158 0.00001
NM_006846.4(SPINK5):c.2640T>C (p.Asn880=) rs1156786846 0.00001
NM_006846.4(SPINK5):c.2651T>C (p.Met884Thr) rs773543821 0.00001
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile) rs1431258015 0.00001
NM_006846.4(SPINK5):c.2666+1G>A rs1754362343 0.00001
NM_006846.4(SPINK5):c.2667-13_2667-12insTT rs1561704956 0.00001
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln) rs771456490 0.00001
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn) rs775645249 0.00001
NM_006846.4(SPINK5):c.2722C>A (p.Pro908Thr) rs921979611 0.00001
NM_006846.4(SPINK5):c.2740-1G>C rs1057518067 0.00001
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr) rs1212563023 0.00001
NM_006846.4(SPINK5):c.2814C>T (p.His938=) rs778903335 0.00001
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu) rs368229591 0.00001
NM_006846.4(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706 0.00001
NM_006846.4(SPINK5):c.283C>T (p.Leu95=) rs1231707335 0.00001
NM_006846.4(SPINK5):c.2885A>G (p.Glu962Gly) rs772801284 0.00001
NM_006846.4(SPINK5):c.290G>A (p.Cys97Tyr) rs777435572 0.00001
NM_006846.4(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767 0.00001
NM_006846.4(SPINK5):c.2964+14T>G rs1017737800 0.00001
NM_006846.4(SPINK5):c.2965-18T>C rs762139890 0.00001
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831 0.00001
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=) rs571812048 0.00001
NM_006846.4(SPINK5):c.3095+16G>A rs778635208 0.00001
NM_006846.4(SPINK5):c.3165C>T (p.Thr1055=) rs781766202 0.00001
NM_006846.4(SPINK5):c.317A>T (p.Asp106Val) rs746365387 0.00001
NM_006846.4(SPINK5):c.3186+9A>G rs375728523 0.00001
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys) rs757745500 0.00001
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser) rs778100225 0.00001
NM_006846.4(SPINK5):c.494G>A (p.Arg165Gln) rs781071677 0.00001
NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly) rs772662655 0.00001
NM_006846.4(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014 0.00001
NM_006846.4(SPINK5):c.535A>G (p.Asn179Asp) rs1474696141 0.00001
NM_006846.4(SPINK5):c.56-3C>A rs755871798 0.00001
NM_006846.4(SPINK5):c.560G>A (p.Gly187Glu) rs1753254257 0.00001
NM_006846.4(SPINK5):c.56A>C (p.Asp19Ala) rs1204188199 0.00001
NM_006846.4(SPINK5):c.602+10A>C rs1444836729 0.00001
NM_006846.4(SPINK5):c.602+18C>G rs773844104 0.00001
NM_006846.4(SPINK5):c.663A>G (p.Glu221=) rs1305351107 0.00001
NM_006846.4(SPINK5):c.666+10C>T rs773205014 0.00001
NM_006846.4(SPINK5):c.666+3A>G rs762435955 0.00001
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter) rs1482249008 0.00001
NM_006846.4(SPINK5):c.730G>A (p.Asp244Asn) rs774534780 0.00001
NM_006846.4(SPINK5):c.745C>T (p.Pro249Ser) rs557324031 0.00001
NM_006846.4(SPINK5):c.794+20T>C rs1432207559 0.00001
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg) rs778915520 0.00001
NM_006846.4(SPINK5):c.81+13T>C rs1289755269 0.00001
NM_006846.4(SPINK5):c.81+3T>C rs745312199 0.00001
NM_006846.4(SPINK5):c.81+5G>A rs771730802 0.00001
NM_006846.4(SPINK5):c.849T>A (p.Ala283=) rs752379715 0.00001
NM_006846.4(SPINK5):c.85A>G (p.Met29Val) rs946715933 0.00001
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147516554_?)dup
NC_000005.9:g.(?_147470708)_(147470811_?)del
NC_000005.9:g.(?_147506526)_(147510972_?)del
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006846.4(SPINK5):c.1011-12_1011-11delinsTT rs2113110897
NM_006846.4(SPINK5):c.1011-8T>C
NM_006846.4(SPINK5):c.1011-8T>G
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter) rs1394583450
NM_006846.4(SPINK5):c.1028A>G (p.Glu343Gly) rs745601984
NM_006846.4(SPINK5):c.1032G>T (p.Lys344Asn) rs771934297
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro) rs1336825417
NM_006846.4(SPINK5):c.1041T>A (p.Ala347=) rs779936876
NM_006846.4(SPINK5):c.1049G>A (p.Arg350Gln)
NM_006846.4(SPINK5):c.1059C>T (p.Asn353=)
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg) rs1451813366
NM_006846.4(SPINK5):c.1082C>T (p.Thr361Ile) rs1193041573
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.1092+14A>G
NM_006846.4(SPINK5):c.1092+18A>T
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1093-13_1093-11del
NM_006846.4(SPINK5):c.1093-20T>C
NM_006846.4(SPINK5):c.1093-5G>A
NM_006846.4(SPINK5):c.1093G>C (p.Glu365Gln) rs2113116400
NM_006846.4(SPINK5):c.1128C>A (p.Asn376Lys) rs78128189
NM_006846.4(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.4(SPINK5):c.1145C>T (p.Thr382Ile)
NM_006846.4(SPINK5):c.1155C>T (p.Asn385=)
NM_006846.4(SPINK5):c.115A>G (p.Asn39Asp)
NM_006846.4(SPINK5):c.1170C>T (p.Gly390=)
NM_006846.4(SPINK5):c.1178G>A (p.Gly393Glu) rs2113116860
NM_006846.4(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_006846.4(SPINK5):c.1196C>T (p.Thr399Ile) rs1420281681
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr) rs1753612608
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del) rs2113117124
NM_006846.4(SPINK5):c.1218C>T (p.Phe406=) rs1581080925
NM_006846.4(SPINK5):c.1220+16G>T
NM_006846.4(SPINK5):c.1221-10C>T
NM_006846.4(SPINK5):c.1221-5T>C rs1753636699
NM_006846.4(SPINK5):c.1221-9C>A rs776978527
NM_006846.4(SPINK5):c.1232A>C (p.Glu411Ala) rs1561689256
NM_006846.4(SPINK5):c.1233del (p.Glu412fs) rs2113120213
NM_006846.4(SPINK5):c.1239_1241del (p.Lys417del)
NM_006846.4(SPINK5):c.1242_1246del (p.Lys415fs) rs2113120242
NM_006846.4(SPINK5):c.1271A>G (p.Lys424Arg) rs1753639021
NM_006846.4(SPINK5):c.1272A>G (p.Lys424=) rs1581081951
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.1298T>G (p.Phe433Cys)
NM_006846.4(SPINK5):c.1302+10dup
NM_006846.4(SPINK5):c.1302+5G>A
NM_006846.4(SPINK5):c.1321C>T (p.Arg441Cys)
NM_006846.4(SPINK5):c.1322G>T (p.Arg441Leu)
NM_006846.4(SPINK5):c.1338C>T (p.Asn446=)
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)
NM_006846.4(SPINK5):c.133C>T (p.Pro45Ser)
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile) rs1431744993
NM_006846.4(SPINK5):c.1348T>C (p.Phe450Leu)
NM_006846.4(SPINK5):c.1366G>T (p.Asp456Tyr) rs757370601
NM_006846.4(SPINK5):c.1372A>G (p.Ile458Val)
NM_006846.4(SPINK5):c.1373T>C (p.Ile458Thr) rs1581082573
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn) rs1266893770
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu) rs772479299
NM_006846.4(SPINK5):c.1410C>T (p.Cys470=)
NM_006846.4(SPINK5):c.1414A>T (p.Met472Leu)
NM_006846.4(SPINK5):c.1430+1G>T rs1309309448
NM_006846.4(SPINK5):c.1430+9A>C
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1431-12G>T
NM_006846.4(SPINK5):c.1431-2del
NM_006846.4(SPINK5):c.1431-39del rs34473560
NM_006846.4(SPINK5):c.1437A>T (p.Gln479His)
NM_006846.4(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del) rs1295633163
NM_006846.4(SPINK5):c.1444A>C (p.Arg482=)
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1473T>G (p.Ala491=)
NM_006846.4(SPINK5):c.1479+11C>T
NM_006846.4(SPINK5):c.1479+11del rs2113133247
NM_006846.4(SPINK5):c.1479+7T>A
NM_006846.4(SPINK5):c.1480-10C>A rs375718943
NM_006846.4(SPINK5):c.1480-19T>C
NM_006846.4(SPINK5):c.1480-2A>G rs773865874
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp) rs201611101
NM_006846.4(SPINK5):c.1522C>G (p.Leu508Val) rs2113140907
NM_006846.4(SPINK5):c.1538A>T (p.Glu513Val)
NM_006846.4(SPINK5):c.1539G>C (p.Glu513Asp)
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1546C>T (p.Pro516Ser) rs1248047998
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1557C>T (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg) rs758158334
NM_006846.4(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.4(SPINK5):c.1608-15C>A
NM_006846.4(SPINK5):c.1608-20A>G
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.4(SPINK5):c.1617AGA[4] (p.Glu542dup) rs771646677
NM_006846.4(SPINK5):c.1621G>C (p.Glu541Gln)
NM_006846.4(SPINK5):c.1642GAA[1] (p.Glu549del) rs2113146866
NM_006846.4(SPINK5):c.1645G>C (p.Glu549Gln)
NM_006846.4(SPINK5):c.1652G>A (p.Gly551Glu)
NM_006846.4(SPINK5):c.1658_1659delinsCT (p.Val553Ala) rs2113146992
NM_006846.4(SPINK5):c.1665T>C (p.Ala555=)
NM_006846.4(SPINK5):c.1671A>G (p.Lys557=) rs1581089650
NM_006846.4(SPINK5):c.1677G>A (p.Lys559=) rs1581089681
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006846.4(SPINK5):c.1692+13G>C
NM_006846.4(SPINK5):c.1692+17A>G
NM_006846.4(SPINK5):c.1692+8_1692+11del
NM_006846.4(SPINK5):c.1693-10C>T
NM_006846.4(SPINK5):c.1693-20_1693-19delinsAT rs2113157762
NM_006846.4(SPINK5):c.1693-9A>G rs1753934848
NM_006846.4(SPINK5):c.1709A>C (p.Tyr570Ser) rs2113157959
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.4(SPINK5):c.1724G>A (p.Arg575Lys)
NM_006846.4(SPINK5):c.1731A>T (p.Gly577=)
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.1733G>A (p.Arg578Gln)
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.1754A>C (p.Asn585Thr) rs551099747
NM_006846.4(SPINK5):c.1767G>C (p.Glu589Asp)
NM_006846.4(SPINK5):c.1771C>T (p.Leu591=) rs1347502043
NM_006846.4(SPINK5):c.1788C>G (p.His596Gln) rs144664803
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val) rs1438419399
NM_006846.4(SPINK5):c.1796C>T (p.Thr599Ile)
NM_006846.4(SPINK5):c.180C>T (p.Ile60=)
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.1820+10C>A
NM_006846.4(SPINK5):c.1820+10C>T
NM_006846.4(SPINK5):c.1820+15G>A rs2113158741
NM_006846.4(SPINK5):c.1821-47T>G rs72660259
NM_006846.4(SPINK5):c.1821-5T>A
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter) rs1366194827
NM_006846.4(SPINK5):c.1844_1849del (p.Glu615_Arg616del)
NM_006846.4(SPINK5):c.1872A>G (p.Lys624=)
NM_006846.4(SPINK5):c.1887+10C>G rs1437010002
NM_006846.4(SPINK5):c.1887+15T>C
NM_006846.4(SPINK5):c.1887+20A>G rs1753982742
NM_006846.4(SPINK5):c.1887+8T>A
NM_006846.4(SPINK5):c.1888-18C>A rs2113169194
NM_006846.4(SPINK5):c.1888-7C>T
NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)
NM_006846.4(SPINK5):c.1893A>G (p.Thr631=)
NM_006846.4(SPINK5):c.1894T>C (p.Cys632Arg)
NM_006846.4(SPINK5):c.1894T>G (p.Cys632Gly) rs775767273
NM_006846.4(SPINK5):c.1895G>A (p.Cys632Tyr)
NM_006846.4(SPINK5):c.1899T>C (p.Asp633=) rs1754029439
NM_006846.4(SPINK5):c.1906C>T (p.Arg636Trp)
NM_006846.4(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.1941A>G (p.Thr647=) rs927214297
NM_006846.4(SPINK5):c.1942A>G (p.Arg648Gly) rs1754030938
NM_006846.4(SPINK5):c.1956T>C (p.Pro652=)
NM_006846.4(SPINK5):c.195G>A (p.Thr65=) rs370397387
NM_006846.4(SPINK5):c.195G>T (p.Thr65=) rs370397387
NM_006846.4(SPINK5):c.1963G>A (p.Gly655Ser)
NM_006846.4(SPINK5):c.1966C>T (p.Pro656Ser)
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=) rs1699884684
NM_006846.4(SPINK5):c.1977G>T (p.Lys659Asn) rs1244556489
NM_006846.4(SPINK5):c.1983T>C (p.His661=)
NM_006846.4(SPINK5):c.1994G>A (p.Cys665Tyr)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro) rs1752512482
NM_006846.4(SPINK5):c.2015+1G>T
NM_006846.4(SPINK5):c.2015+5G>T rs374012512
NM_006846.4(SPINK5):c.2015+8C>A rs1457469450
NM_006846.4(SPINK5):c.2016-3C>G
NM_006846.4(SPINK5):c.2016-3C>T rs2113177395
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs) rs2113177526
NM_006846.4(SPINK5):c.2038_2041del (p.Lys680fs)
NM_006846.4(SPINK5):c.2039_2049del (p.Lys680fs)
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
NM_006846.4(SPINK5):c.2047G>C (p.Glu683Gln)
NM_006846.4(SPINK5):c.2051A>G (p.Glu684Gly)
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006846.4(SPINK5):c.209+11G>A
NM_006846.4(SPINK5):c.209+11G>T
NM_006846.4(SPINK5):c.209+12TTTC[3]
NM_006846.4(SPINK5):c.209+17T>C rs2127189734
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)
NM_006846.4(SPINK5):c.210-10C>A
NM_006846.4(SPINK5):c.210-2A>C
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.210G>T (p.Leu70=)
NM_006846.4(SPINK5):c.2112+3G>A
NM_006846.4(SPINK5):c.2113-13_2113-11del rs2113186306
NM_006846.4(SPINK5):c.2113-2A>G
NM_006846.4(SPINK5):c.2113-3C>T rs987612777
NM_006846.4(SPINK5):c.2113-6T>G
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)
NM_006846.4(SPINK5):c.2169G>A (p.Arg723=)
NM_006846.4(SPINK5):c.216del (p.Glu73fs)
NM_006846.4(SPINK5):c.2185C>T (p.Arg729Cys)
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=) rs1754161817
NM_006846.4(SPINK5):c.2196T>C (p.Asp732=)
NM_006846.4(SPINK5):c.21A>T (p.Ser7=)
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp) rs776793634
NM_006846.4(SPINK5):c.2213A>G (p.Asn738Ser)
NM_006846.4(SPINK5):c.2217G>A (p.Gln739=)
NM_006846.4(SPINK5):c.2223C>A (p.Thr741=)
NM_006846.4(SPINK5):c.2228G>A (p.Cys743Tyr) rs1339348502
NM_006846.4(SPINK5):c.2234C>T (p.Ala745Val)
NM_006846.4(SPINK5):c.2240+13C>T rs1250191414
NM_006846.4(SPINK5):c.2241-12T>C
NM_006846.4(SPINK5):c.2241-19T>C
NM_006846.4(SPINK5):c.2241-4C>G rs1554106267
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.4(SPINK5):c.2271T>C (p.Tyr757=) rs2113188911
NM_006846.4(SPINK5):c.2274T>C (p.Ser758=)
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2291G>T (p.Gly764Val) rs373599568
NM_006846.4(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.4(SPINK5):c.2313+16G>T
NM_006846.4(SPINK5):c.2313+17G>C
NM_006846.4(SPINK5):c.2313+31C>G rs9325073
NM_006846.4(SPINK5):c.2318C>T (p.Thr773Ile)
NM_006846.4(SPINK5):c.2325T>C (p.Asp775=) rs769288731
NM_006846.4(SPINK5):c.2342T>C (p.Met781Thr)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
NM_006846.4(SPINK5):c.2349T>C (p.Asn783=) rs1356587554
NM_006846.4(SPINK5):c.2368C>A (p.Arg790=) rs121908387
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.2375G>A (p.Ser792Asn) rs2113193373
NM_006846.4(SPINK5):c.2377G>A (p.Asp793Asn)
NM_006846.4(SPINK5):c.2381C>A (p.Pro794His)
NM_006846.4(SPINK5):c.2383G>A (p.Val795Ile) rs1754210917
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val) rs1170375768
NM_006846.4(SPINK5):c.2409T>C (p.His803=)
NM_006846.4(SPINK5):c.2415T>C (p.Asn805=) rs2113193797
NM_006846.4(SPINK5):c.2423_2425del (p.Thr808del)
NM_006846.4(SPINK5):c.2426T>C (p.Met809Thr) rs375381713
NM_006846.4(SPINK5):c.2441+3_2441+6del rs1221030255
NM_006846.4(SPINK5):c.2442-15T>C
NM_006846.4(SPINK5):c.2442-3dup rs1561701516
NM_006846.4(SPINK5):c.2442-4C>A rs1223498291
NM_006846.4(SPINK5):c.2442-4C>T
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys) rs1754220479
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.2454A>C (p.Ala818=)
NM_006846.4(SPINK5):c.245A>G (p.His82Arg)
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.2472del (p.Glu825fs) rs2113195147
NM_006846.4(SPINK5):c.2475G>C (p.Glu825Asp) rs2303070
NM_006846.4(SPINK5):c.2478T>A (p.Asp826Glu)
NM_006846.4(SPINK5):c.2483del (p.Asp828fs)
NM_006846.4(SPINK5):c.2486G>A (p.Arg829Lys)
NM_006846.4(SPINK5):c.2490C>T (p.Ser830=)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[3] (p.Asn843_Asp844insThrGlyGluArgSerAsn)
NM_006846.4(SPINK5):c.2505_2507del (p.Arg835del) rs778002683
NM_006846.4(SPINK5):c.2512A>G (p.Thr838Ala) rs1206262718
NM_006846.4(SPINK5):c.2514A>G (p.Thr838=) rs777226517
NM_006846.4(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.4(SPINK5):c.2538+18C>A
NM_006846.4(SPINK5):c.2538+18C>T rs375794481
NM_006846.4(SPINK5):c.2538+19G>A
NM_006846.4(SPINK5):c.2538+20C>T
NM_006846.4(SPINK5):c.2538+8A>G rs371142722
NM_006846.4(SPINK5):c.2539-12T>C
NM_006846.4(SPINK5):c.2539-4G>A rs2113210792
NM_006846.4(SPINK5):c.2539-8G>C
NM_006846.4(SPINK5):c.2540A>T (p.Asp847Val)
NM_006846.4(SPINK5):c.2562C>T (p.Ser854=) rs2113210964
NM_006846.4(SPINK5):c.2574T>C (p.Asn858=) rs2113211065
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2599A>G (p.Asn867Asp)
NM_006846.4(SPINK5):c.259C>G (p.Pro87Ala) rs780799549
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter) rs1340491788
NM_006846.4(SPINK5):c.2612G>A (p.Arg871Gln)
NM_006846.4(SPINK5):c.261C>T (p.Pro87=)
NM_006846.4(SPINK5):c.2620T>C (p.Tyr874His)
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.4(SPINK5):c.2622T>C (p.Tyr874=)
NM_006846.4(SPINK5):c.2624G>A (p.Gly875Asp)
NM_006846.4(SPINK5):c.2629A>C (p.Met877Leu)
NM_006846.4(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.4(SPINK5):c.2650A>G (p.Met884Val)
NM_006846.4(SPINK5):c.2666+14T>C
NM_006846.4(SPINK5):c.2666+4C>T rs376671081
NM_006846.4(SPINK5):c.2667-12del rs368593462
NM_006846.4(SPINK5):c.2667-13_2667-12inv
NM_006846.4(SPINK5):c.2667-14T>A
NM_006846.4(SPINK5):c.2667-15_2667-14insA
NM_006846.4(SPINK5):c.2667-16T>G rs1057521635
NM_006846.4(SPINK5):c.2667-20T>C
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter) rs749828824
NM_006846.4(SPINK5):c.2705A>G (p.Glu902Gly)
NM_006846.4(SPINK5):c.2721G>C (p.Lys907Asn) rs1754389082
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_006846.4(SPINK5):c.2739+10del rs769519367
NM_006846.4(SPINK5):c.2739+17T>A
NM_006846.4(SPINK5):c.2739+1G>T
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.2740-15T>C
NM_006846.4(SPINK5):c.2740-17C>G
NM_006846.4(SPINK5):c.2742T>C (p.Asp914=)
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala) rs1212563023
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln) rs371134163
NM_006846.4(SPINK5):c.2759G>C (p.Arg920Pro) rs371134163
NM_006846.4(SPINK5):c.2760A>G (p.Arg920=)
NM_006846.4(SPINK5):c.2767A>G (p.Ile923Val)
NM_006846.4(SPINK5):c.2776A>C (p.Asn926His)
NM_006846.4(SPINK5):c.2782C>A (p.Leu928Ile) rs1338766208
NM_006846.4(SPINK5):c.2787C>T (p.Ile929=)
NM_006846.4(SPINK5):c.282+11T>A rs534369045
NM_006846.4(SPINK5):c.282+9A>G
NM_006846.4(SPINK5):c.2821G>A (p.Asp941Asn)
NM_006846.4(SPINK5):c.2826A>C (p.Gly942=) rs772170188
NM_006846.4(SPINK5):c.283-12T>C
NM_006846.4(SPINK5):c.283-2A>T rs587777749
NM_006846.4(SPINK5):c.2837C>T (p.Thr946Ile) rs1248127094
NM_006846.4(SPINK5):c.2840A>G (p.Asn947Ser) rs1243172589
NM_006846.4(SPINK5):c.2847_2851dup (p.Met951fs)
NM_006846.4(SPINK5):c.2863G>C (p.Val955Leu) rs773604007
NM_006846.4(SPINK5):c.2867+13A>C
NM_006846.4(SPINK5):c.2870del (p.Leu957fs)
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu) rs1754449328
NM_006846.4(SPINK5):c.2914C>T (p.His972Tyr) rs897710997
NM_006846.4(SPINK5):c.2920A>G (p.Arg974Gly)
NM_006846.4(SPINK5):c.292G>A (p.Asp98Asn) rs1753154694
NM_006846.4(SPINK5):c.2932G>A (p.Glu978Lys)
NM_006846.4(SPINK5):c.2939A>G (p.Asp980Gly) rs778193022
NM_006846.4(SPINK5):c.2953_2954del (p.Phe985fs) rs1754451124
NM_006846.4(SPINK5):c.2965-11T>C
NM_006846.4(SPINK5):c.2965-1G>A
NM_006846.4(SPINK5):c.2991A>G (p.Arg997=) rs1175211669
NM_006846.4(SPINK5):c.2993T>A (p.Val998Glu) rs1754564973
NM_006846.4(SPINK5):c.2998C>T (p.Pro1000Ser) rs1469446157
NM_006846.4(SPINK5):c.2T>A (p.Met1Lys)
NM_006846.4(SPINK5):c.3011A>G (p.Tyr1004Cys) rs1004978122
NM_006846.4(SPINK5):c.3016T>C (p.Cys1006Arg) rs866882229
NM_006846.4(SPINK5):c.3028T>G (p.Leu1010Val) rs1754566872
NM_006846.4(SPINK5):c.3034C>T (p.Pro1012Ser) rs1754566941
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser) rs1483638724
NM_006846.4(SPINK5):c.3053G>C (p.Gly1018Ala) rs2113234006
NM_006846.4(SPINK5):c.3091A>G (p.Asn1031Asp) rs1581113847
NM_006846.4(SPINK5):c.3095+17C>T
NM_006846.4(SPINK5):c.3095+2T>C
NM_006846.4(SPINK5):c.3096-16C>G rs1754629727
NM_006846.4(SPINK5):c.3096-17C>T
NM_006846.4(SPINK5):c.3122G>A (p.Arg1041His)
NM_006846.4(SPINK5):c.3122G>T (p.Arg1041Leu)
NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs) rs763649250
NM_006846.4(SPINK5):c.3172A>G (p.Ser1058Gly) rs1754634181
NM_006846.4(SPINK5):c.3182C>G (p.Pro1061Arg) rs771163069
NM_006846.4(SPINK5):c.3186+9A>T rs375728523
NM_006846.4(SPINK5):c.3187-15del
NM_006846.4(SPINK5):c.3187-4C>T rs1404445152
NM_006846.4(SPINK5):c.328A>G (p.Ile110Val)
NM_006846.4(SPINK5):c.336T>G (p.Pro112=) rs2113051774
NM_006846.4(SPINK5):c.338A>G (p.Asp113Gly) rs2113051809
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.4(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp) rs1753156960
NM_006846.4(SPINK5):c.360C>T (p.Gly120=) rs2113051975
NM_006846.4(SPINK5):c.37G>T (p.Ala13Ser) rs2127180984
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr) rs1753157802
NM_006846.4(SPINK5):c.390T>C (p.Cys130=) rs965514325
NM_006846.4(SPINK5):c.396G>A (p.Leu132=)
NM_006846.4(SPINK5):c.410+12C>A
NM_006846.4(SPINK5):c.411-20C>G rs2113062628
NM_006846.4(SPINK5):c.411-7A>G
NM_006846.4(SPINK5):c.411-9del
NM_006846.4(SPINK5):c.426A>C (p.Gln142His) rs764813956
NM_006846.4(SPINK5):c.426A>G (p.Gln142=)
NM_006846.4(SPINK5):c.427A>G (p.Ile143Val)
NM_006846.4(SPINK5):c.443A>C (p.Glu148Ala)
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)
NM_006846.4(SPINK5):c.460A>C (p.Ser154Arg) rs756283031
NM_006846.4(SPINK5):c.460A>G (p.Ser154Gly)
NM_006846.4(SPINK5):c.468A>G (p.Pro156=) rs1753223698
NM_006846.4(SPINK5):c.46C>T (p.Leu16Phe) rs370369039
NM_006846.4(SPINK5):c.473A>C (p.Gln158Pro)
NM_006846.4(SPINK5):c.474+11T>C
NM_006846.4(SPINK5):c.474+7T>A rs913064627
NM_006846.4(SPINK5):c.474+8C>A
NM_006846.4(SPINK5):c.475-9G>A
NM_006846.4(SPINK5):c.478del (p.Val160fs)
NM_006846.4(SPINK5):c.486T>C (p.Ser162=)
NM_006846.4(SPINK5):c.493C>A (p.Arg165=) rs192473184
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp) rs192473184
NM_006846.4(SPINK5):c.4A>C (p.Lys2Gln) rs2127180920
NM_006846.4(SPINK5):c.506G>C (p.Arg169Thr)
NM_006846.4(SPINK5):c.517C>T (p.Leu173Phe)
NM_006846.4(SPINK5):c.528A>C (p.Thr176=) rs1581068178
NM_006846.4(SPINK5):c.534A>G (p.Glu178=)
NM_006846.4(SPINK5):c.55+12G>A
NM_006846.4(SPINK5):c.55+16G>A
NM_006846.4(SPINK5):c.55+8A>G
NM_006846.4(SPINK5):c.56-20T>C
NM_006846.4(SPINK5):c.565A>G (p.Thr189Ala)
NM_006846.4(SPINK5):c.572G>A (p.Gly191Asp)
NM_006846.4(SPINK5):c.588G>C (p.Met196Ile) rs1753256051
NM_006846.4(SPINK5):c.602+14T>C rs770503772
NM_006846.4(SPINK5):c.602+14T>G
NM_006846.4(SPINK5):c.602+1G>T
NM_006846.4(SPINK5):c.602+6T>C
NM_006846.4(SPINK5):c.602+8G>A
NM_006846.4(SPINK5):c.602+9C>T
NM_006846.4(SPINK5):c.628C>A (p.Arg210=) rs535512727
NM_006846.4(SPINK5):c.631G>A (p.Glu211Lys) rs1163889432
NM_006846.4(SPINK5):c.64A>G (p.Ser22Gly) rs2127182478
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly) rs199757347
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.655A>G (p.Asn219Asp) rs975541808
NM_006846.4(SPINK5):c.666+1G>T
NM_006846.4(SPINK5):c.666+6A>G
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn) rs769098540
NM_006846.4(SPINK5):c.679G>T (p.Glu227Ter) rs1480221716
NM_006846.4(SPINK5):c.690A>G (p.Lys230=)
NM_006846.4(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.4(SPINK5):c.695_696del (p.Val232fs)
NM_006846.4(SPINK5):c.705A>G (p.Gly235=) rs1365660341
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.716G>A (p.Cys239Tyr)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg) rs528798568
NM_006846.4(SPINK5):c.722G>A (p.Arg241Gln) rs1753398819
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.4(SPINK5):c.744C>G (p.Gly248=) rs1293286784
NM_006846.4(SPINK5):c.775G>C (p.Ala259Pro)
NM_006846.4(SPINK5):c.776C>A (p.Ala259Asp) rs373819431
NM_006846.4(SPINK5):c.781T>G (p.Cys261Gly) rs1753402604
NM_006846.4(SPINK5):c.788A>C (p.Glu263Ala) rs1753402958
NM_006846.4(SPINK5):c.794+10G>A
NM_006846.4(SPINK5):c.794+22dup
NM_006846.4(SPINK5):c.795-11A>G rs1561685366
NM_006846.4(SPINK5):c.795-5dup rs1042469969
NM_006846.4(SPINK5):c.799_800delinsAG (p.Gln267Arg) rs1581074856
NM_006846.4(SPINK5):c.807T>C (p.Phe269=)
NM_006846.4(SPINK5):c.81+10G>A rs2127182530
NM_006846.4(SPINK5):c.81+11C>G
NM_006846.4(SPINK5):c.81+11C>T
NM_006846.4(SPINK5):c.81+17C>G rs1752553020
NM_006846.4(SPINK5):c.81+8C>A
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.4(SPINK5):c.82-5C>T
NM_006846.4(SPINK5):c.827C>G (p.Thr276Arg) rs766287346
NM_006846.4(SPINK5):c.829_830del (p.Asp277fs)
NM_006846.4(SPINK5):c.848C>T (p.Ala283Val)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn) rs755830397
NM_006846.4(SPINK5):c.882+19_882+20delinsGG
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_006846.4(SPINK5):c.886C>G (p.Leu296Val) rs1753510621
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser) rs947124939
NM_006846.4(SPINK5):c.953T>C (p.Ile318Thr)
NM_006846.4(SPINK5):c.955C>T (p.Arg319Cys)
NM_006846.4(SPINK5):c.956G>A (p.Arg319His) rs1414114854
NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu) rs1343893946
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006846.4(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006846.4(SPINK5):c.999T>C (p.Cys333=) rs1253381247
NM_006846.4(SPINK5):c.999T>G (p.Cys333Trp) rs1253381247

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