ClinVar Miner

List of variants in gene SPINK5 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 375
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HGVS dbSNP
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.147443360G>A
NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_006846.3(SPINK5):c.*208C>G rs3088193
NM_006846.3(SPINK5):c.*229A>C rs759149324
NM_006846.3(SPINK5):c.*330T>C rs72660265
NM_006846.3(SPINK5):c.*358A>G rs527953668
NM_006846.3(SPINK5):c.*361_*363dup rs397704765
NM_006846.3(SPINK5):c.*44T>C rs4349706
NM_006846.3(SPINK5):c.*59C>T rs73794699
NM_006846.3(SPINK5):c.*78A>G rs774183421
NM_006846.3(SPINK5):c.-10C>T rs778902700
NM_006846.3(SPINK5):c.-61A>C rs74572734
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.3(SPINK5):c.1194C>T (p.Asn398=) rs750608792
NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) rs73269156
NM_006846.3(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248
NM_006846.3(SPINK5):c.1302+16C>T rs112708641
NM_006846.3(SPINK5):c.1302+19G>A rs2303068
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1322G>A (p.Arg441His) rs34393923
NM_006846.3(SPINK5):c.1344G>A (p.Arg448=) rs17107741
NM_006846.3(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136
NM_006846.3(SPINK5):c.1373T>C (p.Ile458Thr) rs1581082573
NM_006846.3(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1480-10C>A rs375718943
NM_006846.3(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282
NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) rs184512279
NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1553G>A (p.Arg518His) rs576310290
NM_006846.3(SPINK5):c.1592T>G (p.Met531Arg) rs985590287
NM_006846.3(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.3(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097
NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.1820+11G>A rs796478719
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778
NM_006846.3(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367
NM_006846.3(SPINK5):c.1888-1G>A rs759255682
NM_006846.3(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2015+8C>A rs1457469450
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+15C>T rs3752677
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402
NM_006846.3(SPINK5):c.2239T>C (p.Leu747=) rs759451448
NM_006846.3(SPINK5):c.2241-4C>G rs1554106267
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2276G>A (p.Arg759His) rs781193914
NM_006846.3(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.3(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.3(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.2382T>C (p.Pro794=) rs188840406
NM_006846.3(SPINK5):c.238dup (p.Ala80fs)
NM_006846.3(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688
NM_006846.3(SPINK5):c.2441+1G>A rs1561701382
NM_006846.3(SPINK5):c.2442-16A>G rs148657069
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.3(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938
NM_006846.3(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445
NM_006846.3(SPINK5):c.2666+4C>T rs376671081
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) rs773053071
NM_006846.3(SPINK5):c.2739+10del rs769519367
NM_006846.3(SPINK5):c.2754A>G (p.Glu918=) rs114635730
NM_006846.3(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706
NM_006846.3(SPINK5):c.2863G>C (p.Val955Leu) rs773604007
NM_006846.3(SPINK5):c.2864T>C (p.Val955Ala) rs115820034
NM_006846.3(SPINK5):c.2895G>A (p.Lys965=) rs34966234
NM_006846.3(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691
NM_006846.3(SPINK5):c.2915A>G (p.His972Arg) rs17705005
NM_006846.3(SPINK5):c.2939A>G (p.Asp980Gly) rs778193022
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767
NM_006846.3(SPINK5):c.2965-10G>C rs58888156
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=) rs571812048
NM_006846.3(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772
NM_006846.3(SPINK5):c.3091A>G (p.Asn1031Asp) rs1581113847
NM_006846.3(SPINK5):c.3101G>A (p.Arg1034His) rs775295911
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659
NM_006846.3(SPINK5):c.313A>G (p.Arg105Gly) rs371334869
NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) rs17860502
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_006846.3(SPINK5):c.3186+8C>T rs115366845
NM_006846.3(SPINK5):c.3189C>T (p.Asp1063=) rs200751535
NM_006846.3(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg) rs573158320
NM_006846.3(SPINK5):c.456G>A (p.Lys152=) rs777350307
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp) rs201812473
NM_006846.3(SPINK5):c.598C>T (p.Leu200=) rs114784178
NM_006846.3(SPINK5):c.59C>T (p.Ala20Val) rs777592836
NM_006846.3(SPINK5):c.603-3C>T rs185217593
NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) rs750627345
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.677A>G (p.Lys226Arg) rs370010334
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.730G>A (p.Asp244Asn) rs774534780
NM_006846.3(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.3(SPINK5):c.750C>T (p.Asp250=) rs199793551
NM_006846.3(SPINK5):c.753C>T (p.Gly251=) rs376643233
NM_006846.3(SPINK5):c.795-11A>G rs1561685366
NM_006846.3(SPINK5):c.799_800delinsAG (p.Gln267Arg) rs1581074856
NM_006846.3(SPINK5):c.803G>A (p.Arg268His) rs375727921
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.3(SPINK5):c.834A>C (p.Gln278His) rs201354872
NM_006846.3(SPINK5):c.882+20A>G rs11958432
NM_006846.3(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006846.4(SPINK5):c.*301C>T
NM_006846.4(SPINK5):c.*90G>A
NM_006846.4(SPINK5):c.-19G>A
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796
NM_006846.4(SPINK5):c.1011-12C>T rs1422991
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro)
NM_006846.4(SPINK5):c.1041T>A (p.Ala347=)
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile)
NM_006846.4(SPINK5):c.105A>T (p.Ala35=)
NM_006846.4(SPINK5):c.1071T>G (p.Ser357=) rs561354824
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg)
NM_006846.4(SPINK5):c.1078G>A (p.Ala360Thr)
NM_006846.4(SPINK5):c.1084T>A (p.Ser362Thr)
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1093-4G>A rs754019195
NM_006846.4(SPINK5):c.1093-6C>T
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183
NM_006846.4(SPINK5):c.1134A>G (p.Lys378=)
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr)
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)
NM_006846.4(SPINK5):c.1218C>T (p.Phe406=) rs1581080925
NM_006846.4(SPINK5):c.1221-5T>C
NM_006846.4(SPINK5):c.1221-8T>C
NM_006846.4(SPINK5):c.1221-9C>A
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=)
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr)
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.4(SPINK5):c.1272A>G (p.Lys424=) rs1581081951
NM_006846.4(SPINK5):c.1284G>A (p.Lys428=)
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
NM_006846.4(SPINK5):c.1342C>T (p.Arg448Trp)
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile)
NM_006846.4(SPINK5):c.1379G>T (p.Gly460Val)
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn)
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu)
NM_006846.4(SPINK5):c.1386T>C (p.Asp462=)
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303
NM_006846.4(SPINK5):c.1401C>T (p.Gly467=) rs374181561
NM_006846.4(SPINK5):c.1430+8G>C
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del)
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp)
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val)
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
NM_006846.4(SPINK5):c.1546C>T (p.Pro516Ser)
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1557C>T (p.Gly519=)
NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg)
NM_006846.4(SPINK5):c.1607+5G>A
NM_006846.4(SPINK5):c.1617AGA[4] (p.Glu542dup)
NM_006846.4(SPINK5):c.1642GAA[1] (p.Glu549del)
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.4(SPINK5):c.1671A>G (p.Lys557=) rs1581089650
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys)
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly)
NM_006846.4(SPINK5):c.1704T>C (p.Ser568=)
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)
NM_006846.4(SPINK5):c.1754A>C (p.Asn585Thr)
NM_006846.4(SPINK5):c.1771C>T (p.Leu591=)
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro)
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His)
NM_006846.4(SPINK5):c.1788C>T (p.His596=)
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val)
NM_006846.4(SPINK5):c.1821-4A>G rs1211543982
NM_006846.4(SPINK5):c.1821-7C>G
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter)
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser)
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val)
NM_006846.4(SPINK5):c.1881T>A (p.Ala627=)
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=) rs764541508
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn)
NM_006846.4(SPINK5):c.1903T>C (p.Phe635Leu)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro)
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu)
NM_006846.4(SPINK5):c.195G>A (p.Thr65=)
NM_006846.4(SPINK5):c.195G>T (p.Thr65=) rs370397387
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His)
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro)
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs)
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val)
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006846.4(SPINK5):c.209+3G>A
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
NM_006846.4(SPINK5):c.2113-18G>A
NM_006846.4(SPINK5):c.2115C>T (p.Asp705=)
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys)
NM_006846.4(SPINK5):c.2127G>A (p.Glu709=) rs369323668
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu)
NM_006846.4(SPINK5):c.2162G>A (p.Cys721Tyr)
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp)
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=)
NM_006846.4(SPINK5):c.2205G>A (p.Ser735=) rs768901845
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp)
NM_006846.4(SPINK5):c.2241-18C>T
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg)
NM_006846.4(SPINK5):c.2319A>G (p.Thr773=)
NM_006846.4(SPINK5):c.2325T>C (p.Asp775=)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
NM_006846.4(SPINK5):c.2349T>C (p.Asn783=) rs1356587554
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908
NM_006846.4(SPINK5):c.2369G>A (p.Arg790Gln)
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala)
NM_006846.4(SPINK5):c.2383G>A (p.Val795Ile)
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp)
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val)
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397
NM_006846.4(SPINK5):c.2415T>C (p.Asn805=)
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)
NM_006846.4(SPINK5):c.2426T>C (p.Met809Thr)
NM_006846.4(SPINK5):c.2441+3_2441+6del
NM_006846.4(SPINK5):c.2442-3dup
NM_006846.4(SPINK5):c.2442-4C>A
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys)
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2514A>G (p.Thr838=)
NM_006846.4(SPINK5):c.2526C>T (p.Ser842=)
NM_006846.4(SPINK5):c.2538+8A>G
NM_006846.4(SPINK5):c.2539-4G>A
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr)
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)
NM_006846.4(SPINK5):c.2640T>C (p.Asn880=)
NM_006846.4(SPINK5):c.2651T>C (p.Met884Thr)
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile)
NM_006846.4(SPINK5):c.2666+5G>A
NM_006846.4(SPINK5):c.2667-13A>T rs2052537
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln)
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly)
NM_006846.4(SPINK5):c.2688A>G (p.Arg896=)
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn)
NM_006846.4(SPINK5):c.2700T>C (p.Asp900=)
NM_006846.4(SPINK5):c.2721G>C (p.Lys907Asn)
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr)
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala)
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln)
NM_006846.4(SPINK5):c.2759G>C (p.Arg920Pro)
NM_006846.4(SPINK5):c.2782C>A (p.Leu928Ile)
NM_006846.4(SPINK5):c.2814C>T (p.His938=)
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu)
NM_006846.4(SPINK5):c.2826A>C (p.Gly942=)
NM_006846.4(SPINK5):c.2837C>T (p.Thr946Ile)
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys)
NM_006846.4(SPINK5):c.2964+14T>G
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser)
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478
NM_006846.4(SPINK5):c.3028T>G (p.Leu1010Val)
NM_006846.4(SPINK5):c.3034C>T (p.Pro1012Ser)
NM_006846.4(SPINK5):c.3035C>T (p.Pro1012Leu)
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser)
NM_006846.4(SPINK5):c.3048C>T (p.Asp1016=)
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn)
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys)
NM_006846.4(SPINK5):c.3093C>T (p.Asn1031=)
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr)
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs)
NM_006846.4(SPINK5):c.3172A>G (p.Ser1058Gly)
NM_006846.4(SPINK5):c.317A>T (p.Asp106Val)
NM_006846.4(SPINK5):c.3186+9A>G
NM_006846.4(SPINK5):c.3186+9A>T rs375728523
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys)
NM_006846.4(SPINK5):c.336T>G (p.Pro112=)
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp)
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr)
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583
NM_006846.4(SPINK5):c.426A>C (p.Gln142His)
NM_006846.4(SPINK5):c.450A>G (p.Glu150=)
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr)
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser)
NM_006846.4(SPINK5):c.468A>G (p.Pro156=)
NM_006846.4(SPINK5):c.474+7T>A
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
NM_006846.4(SPINK5):c.48C>T (p.Leu16=)
NM_006846.4(SPINK5):c.493C>A (p.Arg165=)
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly)
NM_006846.4(SPINK5):c.528A>C (p.Thr176=)
NM_006846.4(SPINK5):c.535A>G (p.Asn179Asp)
NM_006846.4(SPINK5):c.586A>G (p.Met196Val)
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr)
NM_006846.4(SPINK5):c.588G>C (p.Met196Ile)
NM_006846.4(SPINK5):c.602+10A>C rs1444836729
NM_006846.4(SPINK5):c.628C>A (p.Arg210=)
NM_006846.4(SPINK5):c.631G>A (p.Glu211Lys)
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly)
NM_006846.4(SPINK5):c.655A>G (p.Asn219Asp)
NM_006846.4(SPINK5):c.663A>G (p.Glu221=)
NM_006846.4(SPINK5):c.666+10C>T rs773205014
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn)
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg)
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665
NM_006846.4(SPINK5):c.744C>G (p.Gly248=)
NM_006846.4(SPINK5):c.745C>T (p.Pro249Ser)
NM_006846.4(SPINK5):c.781T>G (p.Cys261Gly)
NM_006846.4(SPINK5):c.788A>C (p.Glu263Ala)
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)
NM_006846.4(SPINK5):c.81+10G>A
NM_006846.4(SPINK5):c.81+3T>C
NM_006846.4(SPINK5):c.81+5G>A
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.85A>G (p.Met29Val)
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
NM_006846.4(SPINK5):c.882+1_882+3del
NM_006846.4(SPINK5):c.886C>G (p.Leu296Val)
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn)
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser)
NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu)
NM_006846.4(SPINK5):c.984C>T (p.Asn328=)
NM_006846.4(SPINK5):c.999T>C (p.Cys333=)
NM_006846.4(SPINK5):c.999T>G (p.Cys333Trp)

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