ClinVar Miner

List of variants in gene ALPK3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1893
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.4500-109A>C rs2289138 0.86414
NM_020778.5(ALPK3):c.4411-289A>C rs306199 0.85376
NM_020778.5(ALPK3):c.183-118C>G rs891286 0.84323
NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=) rs167379 0.83408
NM_020778.4(ALPK3):c.24T>C (p.Tyr8=) rs11857356 0.81254
NM_020778.5(ALPK3):c.*254A>G rs7172412 0.80345
NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu) rs306197 0.78256
NM_020778.5(ALPK3):c.143+216T>G rs7179643 0.77398
NM_020778.5(ALPK3):c.1329G>A (p.Gly443=) rs3803406 0.68083
NM_020778.5(ALPK3):c.305-276C>T rs10852091 0.46320
NM_020778.4(ALPK3):c.-74A>C rs55736017 0.31018
NM_020778.5(ALPK3):c.3818-43G>A rs2289141 0.20642
NM_020778.5(ALPK3):c.3965+174A>G rs186266 0.20458
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_020778.5(ALPK3):c.4129+193G>A rs12907646 0.17050
NM_020778.5(ALPK3):c.1654-174T>C rs73437960 0.14105
NM_020778.5(ALPK3):c.3966-95T>C rs75346033 0.08131
NM_020778.5(ALPK3):c.4500-201A>G rs77303431 0.07578
NM_020778.5(ALPK3):c.4772+308C>T rs59022852 0.07490
NM_020778.5(ALPK3):c.4129+37C>T rs2289140 0.07482
NM_020778.5(ALPK3):c.1654-81C>T rs80014104 0.06894
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=) rs35931910 0.06807
NM_020778.5(ALPK3):c.4130-210G>C rs11857540 0.05669
NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=) rs34122391 0.05659
NM_020778.5(ALPK3):c.3818-235C>T rs59475469 0.04606
NM_020778.4(ALPK3):c.194A>G (p.His65Arg) rs28431354 0.03031
NM_020778.5(ALPK3):c.4130-230A>T rs16974575 0.02837
NM_020778.5(ALPK3):c.4773-293G>A rs79061571 0.02833
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
NM_020778.5(ALPK3):c.304+155C>G rs115838012 0.01349
NM_020778.5(ALPK3):c.2811C>G (p.Ala937=) rs35621845 0.01276
NM_020778.5(ALPK3):c.183-172C>T rs891285 0.01224
NM_020778.5(ALPK3):c.183-242C>T rs891284 0.01224
NM_020778.5(ALPK3):c.4723+23G>A rs73437966 0.01137
NM_020778.5(ALPK3):c.423-233C>A rs73437946 0.01065
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_020778.5(ALPK3):c.423-173A>T rs73437949 0.01062
NM_020778.5(ALPK3):c.144-28A>G rs114536068 0.01030
NM_020778.5(ALPK3):c.104C>T (p.Ala35Val) rs75088852 0.01026
NM_020778.5(ALPK3):c.3817+124C>T rs114929985 0.00962
NM_020778.5(ALPK3):c.183-248C>G rs79825359 0.00959
NM_020778.5(ALPK3):c.3965+101C>T rs116770529 0.00945
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg) rs114132013 0.00860
NM_020778.5(ALPK3):c.305-257G>A rs184001384 0.00812
NM_020778.5(ALPK3):c.4130-169G>C rs139859971 0.00678
NM_020778.5(ALPK3):c.4129+97A>G rs114931667 0.00584
NM_020778.5(ALPK3):c.182+23T>G rs28495917 0.00498
NM_020778.5(ALPK3):c.*49G>A rs151129622 0.00435
NM_020778.5(ALPK3):c.183-128C>T rs142926230 0.00433
NM_020778.4(ALPK3):c.175C>G (p.Arg59Gly) rs115389253 0.00431
NM_020778.5(ALPK3):c.884A>G (p.Tyr295Cys) rs116077141 0.00429
NM_020778.5(ALPK3):c.1710T>C (p.Asp570=) rs56005718 0.00411
NM_020778.5(ALPK3):c.144-83G>A rs142151750 0.00392
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00386
NM_020778.5(ALPK3):c.4499+211T>C rs140730624 0.00386
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met) rs35292668 0.00380
NM_020778.5(ALPK3):c.4093+37C>T rs150130260 0.00377
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00351
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr) rs114449938 0.00349
NM_020778.5(ALPK3):c.123C>T (p.Leu41=) rs78638069 0.00345
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_020778.5(ALPK3):c.2367T>C (p.Thr789=) rs55727747 0.00290
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00289
NM_020778.5(ALPK3):c.5091G>A (p.Glu1697=) rs116608834 0.00271
NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr) rs199986476 0.00202
NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met) rs16974569 0.00181
NM_020778.5(ALPK3):c.3965+11G>A rs117116043 0.00175
NM_020778.5(ALPK3):c.4063G>A (p.Ala1355Thr) rs114686452 0.00171
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=) rs368494764 0.00150
NM_020778.4(ALPK3):c.9G>A (p.Val3=) rs28408840 0.00117
NM_020778.5(ALPK3):c.940G>A (p.Ala314Thr) rs115287026 0.00099
NM_020778.5(ALPK3):c.2747T>C (p.Leu916Pro) rs150385353 0.00085
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_020778.5(ALPK3):c.135C>T (p.Pro45=) rs369591811 0.00062
NM_020778.5(ALPK3):c.3531C>T (p.Asp1177=) rs115438635 0.00061
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg) rs115074675 0.00056
NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val) rs139666355 0.00056
NM_020778.5(ALPK3):c.1900C>T (p.Arg634Cys) rs201086326 0.00054
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00046
NM_020778.5(ALPK3):c.2469A>G (p.Ser823=) rs201780221 0.00046
NM_020778.4(ALPK3):c.192C>A (p.Cys64Ter) rs115479471 0.00045
NM_020778.4(ALPK3):c.242C>T (p.Thr81Met) rs200966727 0.00045
NM_020778.5(ALPK3):c.3786C>G (p.Ala1262=) rs202162264 0.00043
NM_020778.5(ALPK3):c.948G>A (p.Lys316=) rs151107093 0.00043
NM_020778.5(ALPK3):c.3353C>T (p.Ala1118Val) rs200275512 0.00042
NM_020778.5(ALPK3):c.4071C>T (p.Thr1357=) rs145385507 0.00040
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=) rs138935453 0.00039
NM_020778.5(ALPK3):c.3966-14T>C rs145646854 0.00039
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu) rs148547083 0.00038
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=) rs143456491 0.00037
NM_020778.5(ALPK3):c.4056C>T (p.His1352=) rs144613098 0.00035
NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp) rs115364627 0.00034
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=) rs115301935 0.00032
NM_020778.5(ALPK3):c.2205A>G (p.Pro735=) rs116418403 0.00032
NM_020778.5(ALPK3):c.5114G>A (p.Arg1705Gln) rs116585466 0.00032
NM_020778.5(ALPK3):c.150A>G (p.Ser50=) rs79285448 0.00031
NM_020778.5(ALPK3):c.3302G>A (p.Gly1101Asp) rs201049076 0.00029
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg) rs143892088 0.00028
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro) rs145058237 0.00028
NM_020778.5(ALPK3):c.3354G>A (p.Ala1118=) rs375245603 0.00027
NM_020778.5(ALPK3):c.3702G>A (p.Ala1234=) rs55721004 0.00027
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly) rs147450988 0.00026
NM_020778.5(ALPK3):c.4899C>G (p.Pro1633=) rs143514559 0.00026
NM_020778.5(ALPK3):c.1412C>T (p.Thr471Ile) rs143709902 0.00024
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln) rs114988007 0.00024
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val) rs149627415 0.00024
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg) rs145983200 0.00023
NM_020778.5(ALPK3):c.832G>A (p.Gly278Arg) rs573106150 0.00023
NM_020778.5(ALPK3):c.3026G>A (p.Arg1009Gln) rs138597569 0.00022
NM_020778.5(ALPK3):c.3596G>A (p.Ser1199Asn) rs372009130 0.00021
NM_020778.5(ALPK3):c.80G>A (p.Gly27Asp) rs931782668 0.00021
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile) rs56015306 0.00020
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu) rs200540710 0.00019
NM_020778.5(ALPK3):c.2640G>A (p.Lys880=) rs142338449 0.00019
NM_020778.5(ALPK3):c.4499+46T>G rs2289139 0.00019
NM_020778.5(ALPK3):c.1207C>T (p.Pro403Ser) rs761234447 0.00018
NM_020778.5(ALPK3):c.2808C>T (p.Cys936=) rs549842134 0.00018
NM_020778.5(ALPK3):c.679T>C (p.Leu227=) rs754287619 0.00018
NM_020778.5(ALPK3):c.2146G>A (p.Ala716Thr) rs201330184 0.00017
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu) rs373555781 0.00017
NM_020778.5(ALPK3):c.1092G>A (p.Glu364=) rs143928374 0.00016
NM_020778.5(ALPK3):c.2925A>G (p.Thr975=) rs367733791 0.00016
NM_020778.5(ALPK3):c.3642C>A (p.Ser1214=) rs774275671 0.00016
NM_020778.5(ALPK3):c.4081C>T (p.Leu1361Phe) rs780101092 0.00016
NM_020778.5(ALPK3):c.4083C>T (p.Leu1361=) rs748831518 0.00016
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe) rs1012634268 0.00016
NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser) rs373853510 0.00015
NM_020778.4(ALPK3):c.374C>T (p.Ala125Val) rs539539451 0.00015
NM_020778.5(ALPK3):c.2831G>A (p.Gly944Glu) rs558514709 0.00015
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro) rs750401200 0.00014
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala) rs199645892 0.00014
NM_020778.5(ALPK3):c.3662C>T (p.Ala1221Val) rs557058818 0.00014
NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp) rs201413329 0.00014
NM_020778.5(ALPK3):c.4398C>T (p.Asp1466=) rs139907293 0.00014
NM_020778.5(ALPK3):c.712C>T (p.Pro238Ser) rs138094037 0.00014
NM_020778.5(ALPK3):c.-43G>A rs949112384 0.00013
NM_020778.5(ALPK3):c.1226A>G (p.Gln409Arg) rs765187060 0.00013
NM_020778.5(ALPK3):c.3647C>T (p.Thr1216Met) rs767667447 0.00013
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu) rs143835594 0.00013
NM_020778.5(ALPK3):c.4458A>G (p.Ala1486=) rs200241564 0.00013
NM_020778.5(ALPK3):c.726T>C (p.Pro242=) rs143386861 0.00013
NC_000015.10:g.84817249G>C rs1307711783 0.00012
NM_020778.5(ALPK3):c.2451A>G (p.Arg817=) rs368549774 0.00012
NM_020778.5(ALPK3):c.3704C>T (p.Ala1235Val) rs200282192 0.00012
NM_020778.5(ALPK3):c.3720C>T (p.Pro1240=) rs769015282 0.00012
NM_020778.5(ALPK3):c.3735C>T (p.Gly1245=) rs760971774 0.00012
NM_020778.5(ALPK3):c.3818-3C>T rs758948501 0.00012
NM_020778.4(ALPK3):c.294G>A (p.Arg98=) rs769106632 0.00011
NM_020778.5(ALPK3):c.1036A>C (p.Ile346Leu) rs201336763 0.00011
NM_020778.5(ALPK3):c.183-5C>T rs758923137 0.00011
NM_020778.5(ALPK3):c.2701G>A (p.Glu901Lys) rs199572606 0.00011
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg) rs367667489 0.00011
NM_020778.5(ALPK3):c.4600G>A (p.Glu1534Lys) rs765401924 0.00011
NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=) rs115813516 0.00011
NM_020778.5(ALPK3):c.62G>T (p.Gly21Val) rs1415475314 0.00011
NM_020778.4(ALPK3):c.487A>G (p.Arg163Gly) rs1008637055 0.00010
NM_020778.5(ALPK3):c.221A>C (p.Glu74Ala) rs533505673 0.00010
NM_020778.5(ALPK3):c.2529G>A (p.Arg843=) rs139767418 0.00010
NM_020778.5(ALPK3):c.297C>A (p.Ile99=) rs770674872 0.00010
NM_020778.5(ALPK3):c.3231C>T (p.Asp1077=) rs142001827 0.00010
NM_020778.4(ALPK3):c.75G>A (p.Leu25=) rs146005696 0.00009
NM_020778.5(ALPK3):c.-63G>C rs990569157 0.00009
NM_020778.5(ALPK3):c.1457C>T (p.Pro486Leu) rs150985765 0.00009
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_020778.5(ALPK3):c.2934A>G (p.Ala978=) rs574248459 0.00009
NM_020778.5(ALPK3):c.2964C>T (p.Thr988=) rs199749201 0.00009
NM_020778.5(ALPK3):c.3683G>A (p.Arg1228Gln) rs150023454 0.00009
NM_020778.5(ALPK3):c.3752T>C (p.Val1251Ala) rs762986369 0.00009
NM_020778.5(ALPK3):c.400C>T (p.Arg134Cys) rs779972206 0.00009
NM_020778.5(ALPK3):c.4197G>A (p.Gly1399=) rs777711325 0.00009
NM_020778.5(ALPK3):c.654C>G (p.Pro218=) rs145729582 0.00009
NM_020778.5(ALPK3):c.2653A>G (p.Ser885Gly) rs770595600 0.00008
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His) rs201993684 0.00008
NM_020778.5(ALPK3):c.4024G>A (p.Gly1342Ser) rs373062858 0.00008
NM_020778.5(ALPK3):c.4576C>A (p.Pro1526Thr) rs572228740 0.00008
NM_020778.5(ALPK3):c.5003G>A (p.Arg1668Gln) rs370296349 0.00008
NM_020778.5(ALPK3):c.983G>A (p.Arg328Gln) rs1343260515 0.00008
NM_020778.5(ALPK3):c.182+9A>G rs200942386 0.00007
NM_020778.5(ALPK3):c.2513G>T (p.Cys838Phe) rs202037221 0.00007
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His) rs184951836 0.00007
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala) rs752749949 0.00007
NM_020778.5(ALPK3):c.3950G>A (p.Gly1317Asp) rs148887150 0.00007
NM_020778.5(ALPK3):c.3986C>T (p.Ala1329Val) rs140665587 0.00007
NM_020778.5(ALPK3):c.4998C>T (p.Gly1666=) rs749593573 0.00007
NM_020778.5(ALPK3):c.5002C>T (p.Arg1668Trp) rs148009523 0.00007
NM_020778.5(ALPK3):c.684C>T (p.Ser228=) rs755435540 0.00007
NM_020778.5(ALPK3):c.698C>T (p.Pro233Leu) rs150785783 0.00007
NC_000015.10:g.84817286G>A rs572969717 0.00006
NM_020778.4(ALPK3):c.300C>G (p.Pro100=) rs1471283704 0.00006
NM_020778.4(ALPK3):c.301G>A (p.Gly101Arg) rs868375261 0.00006
NM_020778.5(ALPK3):c.-64C>G rs959503280 0.00006
NM_020778.5(ALPK3):c.1266C>T (p.Asn422=) rs528843595 0.00006
NM_020778.5(ALPK3):c.133C>T (p.Pro45Ser) rs941969303 0.00006
NM_020778.5(ALPK3):c.1408T>C (p.Leu470=) rs770190564 0.00006
NM_020778.5(ALPK3):c.2504C>T (p.Pro835Leu) rs529373050 0.00006
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu) rs372536101 0.00006
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp) rs201202701 0.00006
NM_020778.5(ALPK3):c.2688C>T (p.Thr896=) rs754817532 0.00006
NM_020778.5(ALPK3):c.2753C>T (p.Thr918Ile) rs202161551 0.00006
NM_020778.5(ALPK3):c.3113G>A (p.Arg1038His) rs146371614 0.00006
NM_020778.5(ALPK3):c.3115C>T (p.Arg1039Cys) rs753321062 0.00006
NM_020778.5(ALPK3):c.3319C>G (p.Gln1107Glu) rs767926913 0.00006
NM_020778.5(ALPK3):c.3736G>A (p.Gly1246Ser) rs765178304 0.00006
NM_020778.5(ALPK3):c.4309G>A (p.Glu1437Lys) rs747233148 0.00006
NM_020778.5(ALPK3):c.4726G>A (p.Val1576Ile) rs769823625 0.00006
NM_020778.5(ALPK3):c.4890G>A (p.Ala1630=) rs966573820 0.00006
NM_020778.5(ALPK3):c.962A>G (p.Glu321Gly) rs764430950 0.00006
NM_020778.4(ALPK3):c.226G>A (p.Gly76Ser) rs758170095 0.00005
NM_020778.5(ALPK3):c.2401C>T (p.Pro801Ser) rs775017533 0.00005
NM_020778.5(ALPK3):c.2477C>T (p.Pro826Leu) rs775305251 0.00005
NM_020778.5(ALPK3):c.2648C>T (p.Pro883Leu) rs771710451 0.00005
NM_020778.5(ALPK3):c.2660C>T (p.Pro887Leu) rs759973437 0.00005
NM_020778.5(ALPK3):c.3124G>A (p.Gly1042Ser) rs561031407 0.00005
NM_020778.5(ALPK3):c.3521C>A (p.Ala1174Glu) rs541005940 0.00005
NM_020778.5(ALPK3):c.4014C>T (p.Pro1338=) rs370134731 0.00005
NM_020778.5(ALPK3):c.4033C>T (p.Arg1345Trp) rs748989211 0.00005
NM_020778.5(ALPK3):c.4500-11A>T rs748934060 0.00005
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn) rs116112514 0.00005
NM_020778.5(ALPK3):c.4686G>A (p.Gln1562=) rs149933659 0.00005
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu) rs371706327 0.00005
NM_020778.5(ALPK3):c.5027C>G (p.Ala1676Gly) rs150250443 0.00005
NM_020778.5(ALPK3):c.695C>T (p.Ala232Val) rs777917827 0.00005
NM_020778.5(ALPK3):c.791G>T (p.Gly264Val) rs747849453 0.00005
NC_000015.10:g.84817261C>G rs992295669 0.00004
NM_020778.4(ALPK3):c.302G>A (p.Gly101Glu) rs774834870 0.00004
NM_020778.5(ALPK3):c.1000A>G (p.Lys334Glu) rs1273788350 0.00004
NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg) rs754238381 0.00004
NM_020778.5(ALPK3):c.1393C>A (p.Gln465Lys) rs771343949 0.00004
NM_020778.5(ALPK3):c.1917G>A (p.Thr639=) rs141003674 0.00004
NM_020778.5(ALPK3):c.2251C>T (p.Leu751=) rs746323615 0.00004
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu) rs199907297 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_020778.5(ALPK3):c.2642C>T (p.Ala881Val) rs375943296 0.00004
NM_020778.5(ALPK3):c.2649G>A (p.Pro883=) rs115903792 0.00004
NM_020778.5(ALPK3):c.2849G>A (p.Arg950Gln) rs772259344 0.00004
NM_020778.5(ALPK3):c.3032C>T (p.Ser1011Leu) rs374420068 0.00004
NM_020778.5(ALPK3):c.3116G>A (p.Arg1039His) rs375717780 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_020778.5(ALPK3):c.322G>A (p.Val108Met) rs151295172 0.00004
NM_020778.5(ALPK3):c.344C>T (p.Thr115Met) rs140571556 0.00004
NM_020778.5(ALPK3):c.3632A>G (p.Glu1211Gly) rs565962039 0.00004
NM_020778.5(ALPK3):c.3701C>T (p.Ala1234Val) rs1009090950 0.00004
NM_020778.5(ALPK3):c.3757C>T (p.Leu1253=) rs368308206 0.00004
NM_020778.5(ALPK3):c.3892T>C (p.Phe1298Leu) rs200756406 0.00004
NM_020778.5(ALPK3):c.3899A>G (p.Asn1300Ser) rs115510864 0.00004
NM_020778.5(ALPK3):c.3952G>A (p.Glu1318Lys) rs142686791 0.00004
NM_020778.5(ALPK3):c.3983C>T (p.Pro1328Leu) rs371508067 0.00004
NM_020778.5(ALPK3):c.4040C>T (p.Thr1347Ile) rs772261260 0.00004
NM_020778.5(ALPK3):c.4061C>T (p.Ser1354Leu) rs377340628 0.00004
NM_020778.5(ALPK3):c.4092G>C (p.Glu1364Asp) rs778715401 0.00004
NM_020778.5(ALPK3):c.4093+13C>T rs773431240 0.00004
NM_020778.5(ALPK3):c.40G>T (p.Gly14Cys) rs1053607919 0.00004
NM_020778.5(ALPK3):c.4130-9C>A rs368518771 0.00004
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu) rs372818428 0.00004
NM_020778.5(ALPK3):c.4311G>A (p.Glu1437=) rs148379985 0.00004
NM_020778.5(ALPK3):c.4314G>A (p.Ser1438=) rs374878079 0.00004
NM_020778.5(ALPK3):c.4319G>A (p.Arg1440His) rs182140062 0.00004
NM_020778.5(ALPK3):c.438T>C (p.Asp146=) rs367865501 0.00004
NM_020778.5(ALPK3):c.4489G>A (p.Glu1497Lys) rs201240006 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_020778.5(ALPK3):c.4499+8C>T rs775235360 0.00004
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr) rs373750743 0.00004
NM_020778.5(ALPK3):c.4913A>G (p.Lys1638Arg) rs749212010 0.00004
NM_020778.5(ALPK3):c.5113C>T (p.Arg1705Trp) rs143300163 0.00004
NM_020778.5(ALPK3):c.549C>T (p.Ala183=) rs1009515579 0.00004
NM_020778.5(ALPK3):c.595A>G (p.Ser199Gly) rs780267653 0.00004
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn) rs148244525 0.00004
NM_020778.5(ALPK3):c.690T>C (p.Ala230=) rs148538731 0.00004
NM_020778.5(ALPK3):c.843C>A (p.Ala281=) rs763262979 0.00004
NM_020778.4(ALPK3):c.292A>C (p.Arg98=) rs994681645 0.00003
NM_020778.4(ALPK3):c.314C>T (p.Thr105Met) rs1280728775 0.00003
NM_020778.4(ALPK3):c.399C>T (p.Pro133=) rs552935780 0.00003
NM_020778.5(ALPK3):c.-13G>C rs978144583 0.00003
NM_020778.5(ALPK3):c.1279A>T (p.Arg427Trp) rs771706498 0.00003
NM_020778.5(ALPK3):c.1320G>T (p.Arg440=) rs1033371309 0.00003
NM_020778.5(ALPK3):c.1709A>T (p.Asp570Val) rs200724501 0.00003
NM_020778.5(ALPK3):c.1715C>T (p.Ala572Val) rs373204179 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020778.5(ALPK3):c.2234C>T (p.Ala745Val) rs142677464 0.00003
NM_020778.5(ALPK3):c.2391C>A (p.Asn797Lys) rs368089654 0.00003
NM_020778.5(ALPK3):c.2481C>T (p.Val827=) rs911323614 0.00003
NM_020778.5(ALPK3):c.2482G>A (p.Glu828Lys) rs200846317 0.00003
NM_020778.5(ALPK3):c.2498A>G (p.Asp833Gly) rs761421251 0.00003
NM_020778.5(ALPK3):c.2615G>C (p.Gly872Ala) rs779766656 0.00003
NM_020778.5(ALPK3):c.298G>A (p.Val100Ile) rs535488179 0.00003
NM_020778.5(ALPK3):c.3104G>A (p.Cys1035Tyr) rs758388457 0.00003
NM_020778.5(ALPK3):c.3169G>A (p.Ala1057Thr) rs769870094 0.00003
NM_020778.5(ALPK3):c.3400G>A (p.Ala1134Thr) rs761129046 0.00003
NM_020778.5(ALPK3):c.3454C>G (p.Pro1152Ala) rs780056277 0.00003
NM_020778.5(ALPK3):c.3455C>T (p.Pro1152Leu) rs772625009 0.00003
NM_020778.5(ALPK3):c.3488C>T (p.Ala1163Val) rs755941827 0.00003
NM_020778.5(ALPK3):c.3732C>T (p.Ala1244=) rs370828206 0.00003
NM_020778.5(ALPK3):c.3817+15G>A rs368481088 0.00003
NM_020778.5(ALPK3):c.3940C>T (p.Arg1314Cys) rs147819987 0.00003
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His) rs746125587 0.00003
NM_020778.5(ALPK3):c.4093+14G>A rs539904892 0.00003
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=) rs773522765 0.00003
NM_020778.5(ALPK3):c.4290C>T (p.Tyr1430=) rs755476608 0.00003
NM_020778.5(ALPK3):c.4308C>T (p.Phe1436=) rs567548946 0.00003
NM_020778.5(ALPK3):c.4436G>A (p.Arg1479Gln) rs759101150 0.00003
NM_020778.5(ALPK3):c.4723+5G>A rs771461497 0.00003
NM_020778.5(ALPK3):c.4902A>G (p.Gln1634=) rs1390506057 0.00003
NM_020778.5(ALPK3):c.4910C>G (p.Ala1637Gly) rs769409719 0.00003
NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter) rs1338612539 0.00003
NM_020778.5(ALPK3):c.5073G>A (p.Gln1691=) rs748019506 0.00003
NM_020778.5(ALPK3):c.704C>T (p.Pro235Leu) rs774126835 0.00003
NM_020778.5(ALPK3):c.716C>T (p.Thr239Ile) rs559342068 0.00003
NM_020778.5(ALPK3):c.806T>C (p.Phe269Ser) rs975857797 0.00003
NM_020778.5(ALPK3):c.895G>A (p.Ala299Thr) rs115195927 0.00003
NM_020778.4(ALPK3):c.105C>T (p.Leu35=) rs149320215 0.00002
NM_020778.4(ALPK3):c.393dup (p.Pro132Alafs) rs949029471 0.00002
NM_020778.5(ALPK3):c.-48G>A rs917621488 0.00002
NM_020778.5(ALPK3):c.-77G>A rs961911481 0.00002
NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter) rs773730492 0.00002
NM_020778.5(ALPK3):c.109C>T (p.Arg37Trp) rs1229697421 0.00002
NM_020778.5(ALPK3):c.1254G>A (p.Met418Ile) rs754539409 0.00002
NM_020778.5(ALPK3):c.1368C>G (p.Ser456Arg) rs375574739 0.00002
NM_020778.5(ALPK3):c.1407C>T (p.Ser469=) rs1004733773 0.00002
NM_020778.5(ALPK3):c.186C>T (p.Ser62=) rs116058119 0.00002
NM_020778.5(ALPK3):c.1916C>T (p.Thr639Met) rs151054715 0.00002
NM_020778.5(ALPK3):c.2158A>G (p.Met720Val) rs142214001 0.00002
NM_020778.5(ALPK3):c.235T>C (p.Phe79Leu) rs933537644 0.00002
NM_020778.5(ALPK3):c.241A>G (p.Thr81Ala) rs201679725 0.00002
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln) rs116079740 0.00002
NM_020778.5(ALPK3):c.2527C>T (p.Arg843Trp) rs367609681 0.00002
NM_020778.5(ALPK3):c.2661G>A (p.Pro887=) rs142125273 0.00002
NM_020778.5(ALPK3):c.2810C>T (p.Ala937Val) rs1021527527 0.00002
NM_020778.5(ALPK3):c.2848C>T (p.Arg950Trp) rs762163130 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_020778.5(ALPK3):c.3025C>T (p.Arg1009Trp) rs765812547 0.00002
NM_020778.5(ALPK3):c.3050G>A (p.Arg1017His) rs776844237 0.00002
NM_020778.5(ALPK3):c.3154C>T (p.Arg1052Cys) rs745957839 0.00002
NM_020778.5(ALPK3):c.3204C>G (p.Ser1068=) rs549946766 0.00002
NM_020778.5(ALPK3):c.3412T>C (p.Ser1138Pro) rs1213169185 0.00002
NM_020778.5(ALPK3):c.345G>A (p.Thr115=) rs760982683 0.00002
NM_020778.5(ALPK3):c.3466C>T (p.Pro1156Ser) rs772697378 0.00002
NM_020778.5(ALPK3):c.355C>T (p.Arg119Cys) rs766905744 0.00002
NM_020778.5(ALPK3):c.3580C>T (p.Arg1194Trp) rs369492331 0.00002
NM_020778.5(ALPK3):c.3687A>C (p.Ala1229=) rs954822834 0.00002
NM_020778.5(ALPK3):c.3733G>A (p.Gly1245Ser) rs773569562 0.00002
NM_020778.5(ALPK3):c.3756C>T (p.Ala1252=) rs763970372 0.00002
NM_020778.5(ALPK3):c.3864C>T (p.Ala1288=) rs770514017 0.00002
NM_020778.5(ALPK3):c.3875T>G (p.Leu1292Arg) rs1468829214 0.00002
NM_020778.5(ALPK3):c.4015G>A (p.Val1339Ile) rs756951762 0.00002
NM_020778.5(ALPK3):c.4057G>A (p.Gly1353Ser) rs1363798738 0.00002
NM_020778.5(ALPK3):c.4093+15C>T rs771455330 0.00002
NM_020778.5(ALPK3):c.4096T>A (p.Leu1366Met) rs777438509 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys) rs192472249 0.00002
NM_020778.5(ALPK3):c.4267G>T (p.Ala1423Ser) rs750010018 0.00002
NM_020778.5(ALPK3):c.4318C>T (p.Arg1440Cys) rs200672174 0.00002
NM_020778.5(ALPK3):c.4469G>A (p.Arg1490Gln) rs752155273 0.00002
NM_020778.5(ALPK3):c.4500-8A>G rs769112906 0.00002
NM_020778.5(ALPK3):c.4723+8G>C rs201433304 0.00002
NM_020778.5(ALPK3):c.4836G>A (p.Gln1612=) rs376064840 0.00002
NM_020778.5(ALPK3):c.5001C>G (p.Thr1667=) rs200351712 0.00002
NM_020778.5(ALPK3):c.5108G>A (p.Gly1703Asp) rs1239606869 0.00002
NM_020778.5(ALPK3):c.699G>A (p.Pro233=) rs776875875 0.00002
NM_020778.5(ALPK3):c.702C>A (p.Gly234=) rs376896928 0.00002
NM_020778.5(ALPK3):c.750G>A (p.Trp250Ter) rs765766340 0.00002
NM_020778.5(ALPK3):c.877C>A (p.Leu293Met) rs377439661 0.00002
NC_000015.10:g.84816907G>C rs751652599 0.00001
NC_000015.10:g.84816949C>T rs759153626 0.00001
NC_000015.10:g.84816961C>G rs1279216085 0.00001
NC_000015.10:g.84816992A>T rs371628844 0.00001
NC_000015.10:g.84817029C>A rs769431148 0.00001
NC_000015.10:g.84817199G>A rs760781429 0.00001
NC_000015.10:g.84817218G>A rs1963368559 0.00001
NM_020778.4(ALPK3):c.118C>A (p.Arg40=) rs532756173 0.00001
NM_020778.4(ALPK3):c.120G>T (p.Arg40=) rs1162529804 0.00001
NM_020778.4(ALPK3):c.140C>A (p.Ala47Glu) rs1369786736 0.00001
NM_020778.4(ALPK3):c.173C>T (p.Pro58Leu) rs1057523682 0.00001
NM_020778.4(ALPK3):c.177T>C (p.Arg59=) rs780654617 0.00001
NM_020778.4(ALPK3):c.207G>A (p.Glu69=) rs773416498 0.00001
NM_020778.4(ALPK3):c.295C>T (p.Pro99Ser) rs1029763180 0.00001
NM_020778.4(ALPK3):c.30G>A (p.Leu10=) rs1274284999 0.00001
NM_020778.4(ALPK3):c.407C>G (p.Ser136Cys) rs1249463407 0.00001
NM_020778.4(ALPK3):c.486T>C (p.Asn162=) rs891136583 0.00001
NM_020778.4(ALPK3):c.492C>T (p.Gly164=) rs1963370785 0.00001
NM_020778.5(ALPK3):c.-10G>A rs1057523686 0.00001
NM_020778.5(ALPK3):c.-14G>A rs1194445562 0.00001
NM_020778.5(ALPK3):c.-22G>A rs1156653140 0.00001
NM_020778.5(ALPK3):c.-29C>T rs1396554659 0.00001
NM_020778.5(ALPK3):c.-6G>A rs1963372517 0.00001
NM_020778.5(ALPK3):c.-96G>C rs1963370921 0.00001
NM_020778.5(ALPK3):c.1079C>T (p.Pro360Leu) rs1963647073 0.00001
NM_020778.5(ALPK3):c.1081G>A (p.Val361Met) rs774628152 0.00001
NM_020778.5(ALPK3):c.1104C>A (p.Thr368=) rs146781915 0.00001
NM_020778.5(ALPK3):c.1158C>T (p.Thr386=) rs546889222 0.00001
NM_020778.5(ALPK3):c.1172C>T (p.Ser391Phe) rs768234276 0.00001
NM_020778.5(ALPK3):c.1183A>G (p.Thr395Ala) rs1285409508 0.00001
NM_020778.5(ALPK3):c.1236T>C (p.Tyr412=) rs1963649648 0.00001
NM_020778.5(ALPK3):c.1286T>C (p.Leu429Pro) rs115200412 0.00001
NM_020778.5(ALPK3):c.1374G>A (p.Gly458=) rs778460334 0.00001
NM_020778.5(ALPK3):c.137A>G (p.Glu46Gly) rs775198429 0.00001
NM_020778.5(ALPK3):c.1383C>T (p.Gly461=) rs758092874 0.00001
NM_020778.5(ALPK3):c.1403A>T (p.His468Leu) rs202163284 0.00001
NM_020778.5(ALPK3):c.1416C>G (p.Pro472=) rs768817367 0.00001
NM_020778.5(ALPK3):c.1473G>A (p.Glu491=) rs1168370877 0.00001
NM_020778.5(ALPK3):c.165T>A (p.Ser55=) rs1963449536 0.00001
NM_020778.5(ALPK3):c.1692G>A (p.Ser564=) rs549394061 0.00001
NM_020778.5(ALPK3):c.1721T>C (p.Ile574Thr) rs767529202 0.00001
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn) rs146892833 0.00001
NM_020778.5(ALPK3):c.182+1G>A rs1963449829 0.00001
NM_020778.5(ALPK3):c.1846A>G (p.Ile616Val) rs753965640 0.00001
NM_020778.5(ALPK3):c.1888G>A (p.Ala630Thr) rs188035818 0.00001
NM_020778.5(ALPK3):c.1961A>T (p.Asp654Val) rs1027334963 0.00001
NM_020778.5(ALPK3):c.1992G>A (p.Gln664=) rs779300928 0.00001
NM_020778.5(ALPK3):c.2011C>T (p.Leu671=) rs1213635406 0.00001
NM_020778.5(ALPK3):c.2131C>T (p.Gln711Ter) rs1295297874 0.00001
NM_020778.5(ALPK3):c.2134T>G (p.Ser712Ala) rs571389749 0.00001
NM_020778.5(ALPK3):c.2147C>T (p.Ala716Val) rs779674365 0.00001
NM_020778.5(ALPK3):c.2172T>G (p.Ser724=) rs976322641 0.00001
NM_020778.5(ALPK3):c.21C>A (p.Pro7=) rs1467594048 0.00001
NM_020778.5(ALPK3):c.2225C>T (p.Pro742Leu) rs753733342 0.00001
NM_020778.5(ALPK3):c.2230A>G (p.Thr744Ala) rs754504711 0.00001
NM_020778.5(ALPK3):c.2242A>G (p.Arg748Gly) rs760584321 0.00001
NM_020778.5(ALPK3):c.230C>T (p.Pro77Leu) rs372130536 0.00001
NM_020778.5(ALPK3):c.2324C>T (p.Ser775Phe) rs1393483412 0.00001
NM_020778.5(ALPK3):c.2361G>A (p.Glu787=) rs780330341 0.00001
NM_020778.5(ALPK3):c.2412G>A (p.Pro804=) rs370157683 0.00001
NM_020778.5(ALPK3):c.2421G>A (p.Glu807=) rs150546362 0.00001
NM_020778.5(ALPK3):c.2426G>A (p.Ser809Asn) rs1220203156 0.00001
NM_020778.5(ALPK3):c.2430G>A (p.Val810=) rs756727242 0.00001
NM_020778.5(ALPK3):c.24C>T (p.Ser8=) rs1301150493 0.00001
NM_020778.5(ALPK3):c.2531C>T (p.Pro844Leu) rs1240384484 0.00001
NM_020778.5(ALPK3):c.2536G>C (p.Gly846Arg) rs202153052 0.00001
NM_020778.5(ALPK3):c.2544G>A (p.Pro848=) rs558397946 0.00001
NM_020778.5(ALPK3):c.2571_2573del (p.Ala858del) rs1963876658 0.00001
NM_020778.5(ALPK3):c.25C>A (p.Arg9=) rs1401678016 0.00001
NM_020778.5(ALPK3):c.2657C>T (p.Thr886Ile) rs1275702908 0.00001
NM_020778.5(ALPK3):c.2676G>T (p.Gly892=) rs1402013349 0.00001
NM_020778.5(ALPK3):c.267C>T (p.Ser89=) rs756601588 0.00001
NM_020778.5(ALPK3):c.26G>A (p.Arg9Gln) rs759651543 0.00001
NM_020778.5(ALPK3):c.2727C>T (p.Ala909=) rs746482983 0.00001
NM_020778.5(ALPK3):c.2738A>C (p.His913Pro) rs1171103742 0.00001
NM_020778.5(ALPK3):c.276C>T (p.Ser92=) rs778957791 0.00001
NM_020778.5(ALPK3):c.2798A>T (p.Glu933Val) rs758445691 0.00001
NM_020778.5(ALPK3):c.279C>T (p.Asp93=) rs567059923 0.00001
NM_020778.5(ALPK3):c.2807G>A (p.Cys936Tyr) rs777884466 0.00001
NM_020778.5(ALPK3):c.2843G>A (p.Gly948Asp) rs774855948 0.00001
NM_020778.5(ALPK3):c.2858A>T (p.Asp953Val) rs1393907055 0.00001
NM_020778.5(ALPK3):c.2906A>C (p.Lys969Thr) rs985027215 0.00001
NM_020778.5(ALPK3):c.2926A>G (p.Ser976Gly) rs1874204001 0.00001
NM_020778.5(ALPK3):c.2978C>A (p.Pro993His) rs1293398654 0.00001
NM_020778.5(ALPK3):c.2993C>T (p.Thr998Ile) rs773997314 0.00001
NM_020778.5(ALPK3):c.3043C>T (p.Leu1015=) rs1222913903 0.00001
NM_020778.5(ALPK3):c.3049C>T (p.Arg1017Cys) rs771137848 0.00001
NM_020778.5(ALPK3):c.304G>A (p.Gly102Arg) rs775149809 0.00001
NM_020778.5(ALPK3):c.3086C>A (p.Thr1029Asn) rs1051437969 0.00001
NM_020778.5(ALPK3):c.3093G>C (p.Leu1031=) rs752722020 0.00001
NM_020778.5(ALPK3):c.3112C>T (p.Arg1038Cys) rs374436550 0.00001
NM_020778.5(ALPK3):c.3155G>A (p.Arg1052His) rs980330574 0.00001
NM_020778.5(ALPK3):c.3161C>G (p.Ala1054Gly) rs1209594795 0.00001
NM_020778.5(ALPK3):c.3166G>T (p.Ala1056Ser) rs1031462793 0.00001
NM_020778.5(ALPK3):c.3196C>G (p.Pro1066Ala) rs139722212 0.00001
NM_020778.5(ALPK3):c.3226G>A (p.Val1076Ile) rs751943226 0.00001
NM_020778.5(ALPK3):c.3263C>T (p.Ala1088Val) rs370119129 0.00001
NM_020778.5(ALPK3):c.3281A>G (p.Glu1094Gly) rs1391823226 0.00001
NM_020778.5(ALPK3):c.3298C>G (p.Pro1100Ala) rs1963888666 0.00001
NM_020778.5(ALPK3):c.3315C>T (p.Ala1105=) rs1179803660 0.00001
NM_020778.5(ALPK3):c.331T>C (p.Tyr111His) rs1040012286 0.00001
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.3374G>A (p.Gly1125Glu) rs748854704 0.00001
NM_020778.5(ALPK3):c.3393G>T (p.Glu1131Asp) rs934462659 0.00001
NM_020778.5(ALPK3):c.3418G>A (p.Glu1140Lys) rs752982998 0.00001
NM_020778.5(ALPK3):c.3451C>T (p.Leu1151Phe) rs779886712 0.00001
NM_020778.5(ALPK3):c.3456G>A (p.Pro1152=) rs773988814 0.00001
NM_020778.5(ALPK3):c.3470A>T (p.Glu1157Val) rs777196267 0.00001
NM_020778.5(ALPK3):c.3490C>T (p.Arg1164Trp) rs779709566 0.00001
NM_020778.5(ALPK3):c.3532G>A (p.Gly1178Arg) rs377179290 0.00001
NM_020778.5(ALPK3):c.3570G>A (p.Thr1190=) rs775935512 0.00001
NM_020778.5(ALPK3):c.3629G>A (p.Arg1210Gln) rs776453848 0.00001
NM_020778.5(ALPK3):c.3635G>C (p.Arg1212Thr) rs749791830 0.00001
NM_020778.5(ALPK3):c.3637C>T (p.Arg1213Cys) rs140424493 0.00001
NM_020778.5(ALPK3):c.3648G>A (p.Thr1216=) rs548203307 0.00001
NM_020778.5(ALPK3):c.3665G>A (p.Ser1222Asn) rs1333183260 0.00001
NM_020778.5(ALPK3):c.3737G>A (p.Gly1246Asp) rs1963898743 0.00001
NM_020778.5(ALPK3):c.3751G>T (p.Val1251Leu) rs1198332004 0.00001
NM_020778.5(ALPK3):c.3796A>G (p.Lys1266Glu) rs993911691 0.00001
NM_020778.5(ALPK3):c.3817+17G>A rs748617763 0.00001
NM_020778.5(ALPK3):c.3818-8G>T rs753198574 0.00001
NM_020778.5(ALPK3):c.3824A>G (p.Gln1275Arg) rs1390037202 0.00001
NM_020778.5(ALPK3):c.3841C>T (p.Arg1281Trp) rs370816513 0.00001
NM_020778.5(ALPK3):c.3846G>A (p.Val1282=) rs1296977772 0.00001
NM_020778.5(ALPK3):c.3863C>T (p.Ala1288Val) rs761697260 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_020778.5(ALPK3):c.387T>C (p.Thr129=) rs570471146 0.00001
NM_020778.5(ALPK3):c.3939G>C (p.Gln1313His) rs935977042 0.00001
NM_020778.5(ALPK3):c.3966C>T (p.Ser1322=) rs764601903 0.00001
NM_020778.5(ALPK3):c.3987G>A (p.Ala1329=) rs766368279 0.00001
NM_020778.5(ALPK3):c.3999C>T (p.Ile1333=) rs375271863 0.00001
NM_020778.5(ALPK3):c.4023C>T (p.Cys1341=) rs745724880 0.00001
NM_020778.5(ALPK3):c.4034G>A (p.Arg1345Gln) rs768456090 0.00001
NM_020778.5(ALPK3):c.4089T>C (p.Pro1363=) rs768225211 0.00001
NM_020778.5(ALPK3):c.4093+20C>T rs759623448 0.00001
NM_020778.5(ALPK3):c.4129+13C>G rs372545530 0.00001
NM_020778.5(ALPK3):c.4129+13C>T rs372545530 0.00001
NM_020778.5(ALPK3):c.4152C>T (p.Thr1384=) rs955410854 0.00001
NM_020778.5(ALPK3):c.4165G>A (p.Ala1389Thr) rs765113565 0.00001
NM_020778.5(ALPK3):c.4173T>A (p.Gly1391=) rs946844546 0.00001
NM_020778.5(ALPK3):c.4174C>G (p.Leu1392Val) rs771958254 0.00001
NM_020778.5(ALPK3):c.4191C>T (p.Cys1397=) rs929049789 0.00001
NM_020778.5(ALPK3):c.4193G>T (p.Trp1398Leu) rs756411505 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_020778.5(ALPK3):c.4214G>T (p.Arg1405Leu) rs369709289 0.00001
NM_020778.5(ALPK3):c.422+14G>A rs746635508 0.00001
NM_020778.5(ALPK3):c.423-8A>C rs1318142876 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.4237G>A (p.Gly1413Arg) rs775358435 0.00001
NM_020778.5(ALPK3):c.4241G>A (p.Gly1414Asp) rs762937166 0.00001
NM_020778.5(ALPK3):c.4251G>A (p.Gly1417=) rs763562436 0.00001
NM_020778.5(ALPK3):c.427C>T (p.Arg143Ter) rs199599837 0.00001
NM_020778.5(ALPK3):c.4286T>C (p.Ile1429Thr) rs547317664 0.00001
NM_020778.5(ALPK3):c.428G>A (p.Arg143Gln) rs372329290 0.00001
NM_020778.5(ALPK3):c.4307T>A (p.Phe1436Tyr) rs373233818 0.00001
NM_020778.5(ALPK3):c.4365C>G (p.Ser1455Arg) rs1018928368 0.00001
NM_020778.5(ALPK3):c.4394A>G (p.Tyr1465Cys) rs771616717 0.00001
NM_020778.5(ALPK3):c.4429A>G (p.Met1477Val) rs373576199 0.00001
NM_020778.5(ALPK3):c.4431G>A (p.Met1477Ile) rs1473386110 0.00001
NM_020778.5(ALPK3):c.4435C>T (p.Arg1479Trp) rs776415532 0.00001
NM_020778.5(ALPK3):c.4438G>T (p.Glu1480Ter) rs770334508 0.00001
NM_020778.5(ALPK3):c.4453T>C (p.Phe1485Leu) rs371495524 0.00001
NM_020778.5(ALPK3):c.4456G>A (p.Ala1486Thr) rs751953827 0.00001
NM_020778.5(ALPK3):c.4466C>T (p.Ala1489Val) rs145438318 0.00001
NM_020778.5(ALPK3):c.4468C>T (p.Arg1490Trp) rs376691515 0.00001
NM_020778.5(ALPK3):c.4475C>T (p.Ala1492Val) rs538810746 0.00001
NM_020778.5(ALPK3):c.4481G>T (p.Gly1494Val) rs746920220 0.00001
NM_020778.5(ALPK3):c.4500-9T>C rs1452094547 0.00001
NM_020778.5(ALPK3):c.461C>T (p.Ala154Val) rs913849174 0.00001
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu) rs767340370 0.00001
NM_020778.5(ALPK3):c.4635C>T (p.Gly1545=) rs756087057 0.00001
NM_020778.5(ALPK3):c.4723+15G>A rs745949902 0.00001
NM_020778.5(ALPK3):c.4725G>T (p.Gly1575=) rs746383287 0.00001
NM_020778.5(ALPK3):c.474G>A (p.Lys158=) rs1247552007 0.00001
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter) rs541612157 0.00001
NM_020778.5(ALPK3):c.4769G>A (p.Arg1590Gln) rs1432141737 0.00001
NM_020778.5(ALPK3):c.477C>A (p.Gly159=) rs372095639 0.00001
NM_020778.5(ALPK3):c.4781G>A (p.Gly1594Asp) rs200262921 0.00001
NM_020778.5(ALPK3):c.4822G>A (p.Ala1608Thr) rs763590744 0.00001
NM_020778.5(ALPK3):c.4847A>T (p.Tyr1616Phe) rs1383160502 0.00001
NM_020778.5(ALPK3):c.4889C>T (p.Ala1630Val) rs748424712 0.00001
NM_020778.5(ALPK3):c.4940G>A (p.Arg1647Lys) rs772672818 0.00001
NM_020778.5(ALPK3):c.5030C>T (p.Thr1677Ile) rs900944921 0.00001
NM_020778.5(ALPK3):c.5036A>G (p.Gln1679Arg) rs576023680 0.00001
NM_020778.5(ALPK3):c.5043A>G (p.Ser1681=) rs763159872 0.00001
NM_020778.5(ALPK3):c.5060A>C (p.Gln1687Pro) rs781341096 0.00001
NM_020778.5(ALPK3):c.5096C>T (p.Ser1699Phe) rs770515435 0.00001
NM_020778.5(ALPK3):c.5100G>C (p.Lys1700Asn) rs1010741163 0.00001
NM_020778.5(ALPK3):c.512C>A (p.Thr171Asn) rs774567371 0.00001
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg) rs767791247 0.00001
NM_020778.5(ALPK3):c.532C>T (p.His178Tyr) rs892109121 0.00001
NM_020778.5(ALPK3):c.560G>T (p.Arg187Leu) rs1314564648 0.00001
NM_020778.5(ALPK3):c.564G>A (p.Lys188=) rs777335669 0.00001
NM_020778.5(ALPK3):c.57G>C (p.Ala19=) rs1442468292 0.00001
NM_020778.5(ALPK3):c.581G>A (p.Arg194His) rs1459767585 0.00001
NM_020778.5(ALPK3):c.591G>A (p.Glu197=) rs770241858 0.00001
NM_020778.5(ALPK3):c.597C>T (p.Ser199=) rs371762258 0.00001
NM_020778.5(ALPK3):c.59G>A (p.Gly20Glu) rs1403282196 0.00001
NM_020778.5(ALPK3):c.606C>T (p.His202=) rs376691348 0.00001
NM_020778.5(ALPK3):c.637C>T (p.Leu213=) rs769309969 0.00001
NM_020778.5(ALPK3):c.648C>G (p.Leu216=) rs142016958 0.00001
NM_020778.5(ALPK3):c.677G>A (p.Arg226Gln) rs755804498 0.00001
NM_020778.5(ALPK3):c.703C>A (p.Pro235Thr) rs1238212189 0.00001
NM_020778.5(ALPK3):c.705C>T (p.Pro235=) rs761813254 0.00001
NM_020778.5(ALPK3):c.827C>G (p.Thr276Ser) rs1963642557 0.00001
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter) rs370072439 0.00001
NM_020778.5(ALPK3):c.861C>T (p.Asp287=) rs1287657567 0.00001
NM_020778.5(ALPK3):c.863G>A (p.Gly288Glu) rs142197641 0.00001
NM_020778.5(ALPK3):c.868C>T (p.His290Tyr) rs1963643300 0.00001
NM_020778.5(ALPK3):c.899T>A (p.Met300Lys) rs1283338715 0.00001
NM_020778.5(ALPK3):c.945G>C (p.Lys315Asn) rs970840303 0.00001
NM_020778.5(ALPK3):c.96C>T (p.Pro32=) rs1297411958 0.00001
GRCh37/hg19 15q25.3(chr15:85383145-85383839)x0
NC_000015.10:g.84816587_84816588dup rs529219955
NC_000015.10:g.84816588del rs529219955
NC_000015.10:g.84816588dup rs529219955
NC_000015.10:g.84816937C>G rs1963362942
NC_000015.10:g.84816946del rs2141541516
NC_000015.10:g.84816962C>T rs1189001595
NC_000015.10:g.84816982C>G rs1470660128
NC_000015.10:g.84817011G>T rs28416295
NC_000015.10:g.84817029C>T rs769431148
NC_000015.10:g.84817044G>A rs376798667
NC_000015.10:g.84817045G>C rs767754656
NC_000015.10:g.84817072G>C rs758170095
NC_000015.10:g.84817082G>C rs2141541689
NC_000015.10:g.84817108G>A rs2141541718
NC_000015.10:g.84817109A>T rs2141541721
NC_000015.10:g.84817121G>T rs779706830
NC_000015.10:g.84817132C>T rs2141541757
NC_000015.10:g.84817147_84817156del rs1963367421
NC_000015.10:g.84817183G>A rs2141541816
NC_000015.10:g.84817228T>C rs1425093369
NC_000015.10:g.84817271del rs2141541923
NC_000015.10:g.84817275G>A rs2141541938
NC_000015.10:g.84817284A>G rs2141541955
NC_000015.10:g.84817301del rs2141541974
NC_000015.10:g.84817330A>C rs2141541996
NC_000015.10:g.84817349C>T rs1754238791
NC_000015.10:g.84817352G>C rs2141542012
NC_000015.9:g.(?_85360078)_(85366619_?)dup
NC_000015.9:g.(?_85360078)_(85411687_?)del
NC_000015.9:g.(?_85360078)_(85411687_?)dup
NC_000015.9:g.(?_85370695)_(85370856_?)del
NC_000015.9:g.(?_85382191)_(85411687_?)del
NC_000015.9:g.(?_85382191)_(85411687_?)dup
NC_000015.9:g.(?_85382963)_(85400831_?)dup
NC_000015.9:g.(?_85408956)_(85411660_?)del
NM_020778.4(ALPK3):c.112C>A (p.Leu38Ile)
NM_020778.4(ALPK3):c.119G>C (p.Arg40Pro)
NM_020778.4(ALPK3):c.119G>T (p.Arg40Leu)
NM_020778.4(ALPK3):c.123T>C (p.Ser41=)
NM_020778.4(ALPK3):c.126C>G (p.Ser42Arg)
NM_020778.4(ALPK3):c.126C>T (p.Ser42=)
NM_020778.4(ALPK3):c.130A>G (p.Ser44Gly)
NM_020778.4(ALPK3):c.137_142delCAGCGG (p.Pro46_Val48delinsLeu)
NM_020778.4(ALPK3):c.143T>C (p.Val48Ala)
NM_020778.4(ALPK3):c.144T>A (p.Val48=)
NM_020778.4(ALPK3):c.153_161dup (p.Pro55_Ala56insLeuAlaPro)
NM_020778.4(ALPK3):c.157C>G (p.Leu53Val)
NM_020778.4(ALPK3):c.15G>T (p.Trp5Cys)
NM_020778.4(ALPK3):c.162C>T (p.Ala54=)
NM_020778.4(ALPK3):c.164C>A (p.Pro55Gln)
NM_020778.4(ALPK3):c.164C>T (p.Pro55Leu)
NM_020778.4(ALPK3):c.176G>T (p.Arg59Leu)
NM_020778.4(ALPK3):c.184C>T (p.Leu62Phe)
NM_020778.4(ALPK3):c.197C>G (p.Thr66Arg)
NM_020778.4(ALPK3):c.199G>A (p.Gly67Arg)
NM_020778.4(ALPK3):c.205G>A (p.Glu69Lys)
NM_020778.4(ALPK3):c.205G>C (p.Glu69Gln)
NM_020778.4(ALPK3):c.208C>A (p.Gln70Lys)
NM_020778.4(ALPK3):c.218G>A (p.Arg73Gln)
NM_020778.4(ALPK3):c.220G>A (p.Glu74Lys)
NM_020778.4(ALPK3):c.223C>T (p.Pro75Ser)
NM_020778.4(ALPK3):c.229C>T (p.Pro77Ser)
NM_020778.4(ALPK3):c.243G>T (p.Thr81=) rs1963366309
NM_020778.4(ALPK3):c.24_25delTGinsCC (p.Val9Leu)
NM_020778.4(ALPK3):c.250C>T (p.Pro84Ser)
NM_020778.4(ALPK3):c.257T>G (p.Leu86Arg) rs369860557
NM_020778.4(ALPK3):c.273C>T (p.Thr91=)
NM_020778.4(ALPK3):c.290C>G (p.Pro97Arg)
NM_020778.4(ALPK3):c.293G>A (p.Arg98Lys)
NM_020778.4(ALPK3):c.298C>A (p.Pro100Thr)
NM_020778.4(ALPK3):c.300C>T (p.Pro100=)
NM_020778.4(ALPK3):c.317G>A (p.Arg106Gln)
NM_020778.4(ALPK3):c.317G>T (p.Arg106Leu)
NM_020778.4(ALPK3):c.324C>T (p.Tyr108=)
NM_020778.4(ALPK3):c.325T>C (p.Cys109Arg)
NM_020778.4(ALPK3):c.325T>G (p.Cys109Gly)
NM_020778.4(ALPK3):c.326G>C (p.Cys109Ser)
NM_020778.4(ALPK3):c.334C>T (p.Gln112Ter)
NM_020778.4(ALPK3):c.336G>A (p.Gln112=)
NM_020778.4(ALPK3):c.339C>T (p.Gly113=)
NM_020778.4(ALPK3):c.348G>A (p.Gly116=)
NM_020778.4(ALPK3):c.351C>T (p.Ser117=)
NM_020778.4(ALPK3):c.352G>A (p.Gly118Arg)
NM_020778.4(ALPK3):c.353G>C (p.Gly118Ala)
NM_020778.4(ALPK3):c.354A>C (p.Gly118=)
NM_020778.4(ALPK3):c.355C>A (p.Leu119Ile)
NM_020778.4(ALPK3):c.358G>A (p.Gly120Arg)
NM_020778.4(ALPK3):c.359G>C (p.Gly120Ala)
NM_020778.4(ALPK3):c.35A>G (p.Gln12Arg)
NM_020778.4(ALPK3):c.361G>A (p.Ala121Thr)
NM_020778.4(ALPK3):c.363C>G (p.Ala121=)
NM_020778.4(ALPK3):c.363C>T (p.Ala121=)
NM_020778.4(ALPK3):c.364G>C (p.Gly122Arg)
NM_020778.4(ALPK3):c.370G>T (p.Gly124Trp)
NM_020778.4(ALPK3):c.37C>T (p.Gln13Ter)
NM_020778.4(ALPK3):c.381A>G (p.Thr127=)
NM_020778.4(ALPK3):c.381A>T (p.Thr127=)
NM_020778.4(ALPK3):c.389C>A (p.Pro130Gln)
NM_020778.4(ALPK3):c.391G>T (p.Ala131Ser)
NM_020778.4(ALPK3):c.394C>T (p.Pro132Ser)
NM_020778.4(ALPK3):c.395C>T (p.Pro132Leu)
NM_020778.4(ALPK3):c.398C>T (p.Pro133Leu)
NM_020778.4(ALPK3):c.399delC (p.Gly134Alafs)
NM_020778.4(ALPK3):c.399dup (p.Gly134Argfs) rs769496975
NM_020778.4(ALPK3):c.402C>A (p.Gly134=)
NM_020778.4(ALPK3):c.405C>T (p.Val135=)
NM_020778.4(ALPK3):c.407C>T (p.Ser136Phe)
NM_020778.4(ALPK3):c.415C>T (p.Arg139Cys)
NM_020778.4(ALPK3):c.419G>C (p.Cys140Ser)
NM_020778.4(ALPK3):c.422C>G (p.Pro141Arg)
NM_020778.4(ALPK3):c.423G>C (p.Pro141=)
NM_020778.4(ALPK3):c.423G>T (p.Pro141=)
NM_020778.4(ALPK3):c.425G>A (p.Gly142Asp)
NM_020778.4(ALPK3):c.431C>T (p.Ala144Val)
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020778.4(ALPK3):c.433A>C (p.Arg145=)
NM_020778.4(ALPK3):c.437C>G (p.Pro146Arg)
NM_020778.4(ALPK3):c.437C>T (p.Pro146Leu)
NM_020778.4(ALPK3):c.438A>C (p.Pro146=)
NM_020778.4(ALPK3):c.439G>C (p.Gly147Arg)
NM_020778.4(ALPK3):c.441G>C (p.Gly147=)
NM_020778.4(ALPK3):c.442G>A (p.Glu148Lys)
NM_020778.4(ALPK3):c.444G>A (p.Glu148=)
NM_020778.4(ALPK3):c.457G>A (p.Val153Met)
NM_020778.4(ALPK3):c.462G>A (p.Thr154=)
NM_020778.4(ALPK3):c.46G>A (p.Ala16Thr)
NM_020778.4(ALPK3):c.472C>T (p.Pro158Ser)
NM_020778.4(ALPK3):c.473_485dup (p.Arg163Thrfs)
NM_020778.4(ALPK3):c.474A>G (p.Pro158=)
NM_020778.4(ALPK3):c.489G>C (p.Arg163Ser)
NM_020778.4(ALPK3):c.48G>A (p.Ala16=)
NM_020778.4(ALPK3):c.493G>A (p.Ala165Thr)
NM_020778.4(ALPK3):c.497G>A (p.Arg166His)
NM_020778.4(ALPK3):c.4G>A (p.Glu2Lys)
NM_020778.4(ALPK3):c.507G>A (p.Arg169=)
NM_020778.4(ALPK3):c.71G>A (p.Arg24Gln)
NM_020778.4(ALPK3):c.71G>C (p.Arg24Pro)
NM_020778.4(ALPK3):c.76G>A (p.Val26Met)
NM_020778.4(ALPK3):c.80C>G (p.Pro27Arg)
NM_020778.5(ALPK3):c.-10G>T rs1057523686
NM_020778.5(ALPK3):c.-15G>A
NM_020778.5(ALPK3):c.-16C>T
NM_020778.5(ALPK3):c.-22G>T
NM_020778.5(ALPK3):c.-28G>C
NM_020778.5(ALPK3):c.-29C>G
NM_020778.5(ALPK3):c.-35C>A
NM_020778.5(ALPK3):c.-36G>A
NM_020778.5(ALPK3):c.-42G>A
NM_020778.5(ALPK3):c.-45G>A
NM_020778.5(ALPK3):c.-4T>A
NM_020778.5(ALPK3):c.-56_-55delinsCT
NM_020778.5(ALPK3):c.-66G>T
NM_020778.5(ALPK3):c.-66del rs974266035
NM_020778.5(ALPK3):c.-69G>A
NM_020778.5(ALPK3):c.-6_17del (p.Met1fs)
NM_020778.5(ALPK3):c.-71C>T
NM_020778.5(ALPK3):c.-72C>T rs1201549017
NM_020778.5(ALPK3):c.-74G>T rs1444549839
NM_020778.5(ALPK3):c.-76G>C
NM_020778.5(ALPK3):c.-78A>C
NM_020778.5(ALPK3):c.-79_-78insG
NM_020778.5(ALPK3):c.-80del
NM_020778.5(ALPK3):c.-83C>G
NM_020778.5(ALPK3):c.-83C>T
NM_020778.5(ALPK3):c.-85G>A
NM_020778.5(ALPK3):c.-85G>T
NM_020778.5(ALPK3):c.-8G>A rs2141542128
NM_020778.5(ALPK3):c.-94_-92dup rs2141542019
NM_020778.5(ALPK3):c.1001A>C (p.Lys334Thr)
NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter) rs1567089714
NM_020778.5(ALPK3):c.1013G>T (p.Ser338Ile)
NM_020778.5(ALPK3):c.1015C>A (p.Arg339Ser)
NM_020778.5(ALPK3):c.1015C>G (p.Arg339Gly)
NM_020778.5(ALPK3):c.1017C>A (p.Arg339=) rs1038938286
NM_020778.5(ALPK3):c.1020T>C (p.Arg340=) rs1246271924
NM_020778.5(ALPK3):c.1024T>C (p.Ser342Pro)
NM_020778.5(ALPK3):c.1026A>G (p.Ser342=)
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
NM_020778.5(ALPK3):c.1043G>A (p.Ser348Asn) rs2141556874
NM_020778.5(ALPK3):c.1044C>T (p.Ser348=)
NM_020778.5(ALPK3):c.1050C>G (p.Asp350Glu)
NM_020778.5(ALPK3):c.1051G>A (p.Glu351Lys)
NM_020778.5(ALPK3):c.1051G>C (p.Glu351Gln) rs374922996
NM_020778.5(ALPK3):c.1054C>T (p.Pro352Ser)
NM_020778.5(ALPK3):c.1056T>A (p.Pro352=)
NM_020778.5(ALPK3):c.105C>A (p.Ala35=)
NM_020778.5(ALPK3):c.1061C>T (p.Ser354Phe)
NM_020778.5(ALPK3):c.1072C>T (p.Gln358Ter)
NM_020778.5(ALPK3):c.1073_1074del (p.Gln358fs)
NM_020778.5(ALPK3):c.1077G>T (p.Gly359=)
NM_020778.5(ALPK3):c.107G>A (p.Ser36Asn)
NM_020778.5(ALPK3):c.1082T>A (p.Val361Glu) rs2141556916
NM_020778.5(ALPK3):c.108C>T (p.Ser36=)
NM_020778.5(ALPK3):c.1093C>A (p.Gln365Lys)
NM_020778.5(ALPK3):c.1107G>T (p.Gln369His)
NM_020778.5(ALPK3):c.110G>A (p.Arg37Gln)
NM_020778.5(ALPK3):c.1114G>A (p.Gly372Ser) rs2141556931
NM_020778.5(ALPK3):c.1114G>C (p.Gly372Arg)
NM_020778.5(ALPK3):c.1125A>G (p.Ala375=)
NM_020778.5(ALPK3):c.1127G>A (p.Arg376Gln) rs755210023
NM_020778.5(ALPK3):c.1128G>A (p.Arg376=)
NM_020778.5(ALPK3):c.1130_1131delinsAC (p.Gly377Asp)
NM_020778.5(ALPK3):c.1131G>T (p.Gly377=)
NM_020778.5(ALPK3):c.1131del (p.Pro378fs)
NM_020778.5(ALPK3):c.1132C>T (p.Pro378Ser)
NM_020778.5(ALPK3):c.1133C>T (p.Pro378Leu)
NM_020778.5(ALPK3):c.1136G>T (p.Gly379Val) rs2141556967
NM_020778.5(ALPK3):c.1142C>G (p.Ser381Cys)
NM_020778.5(ALPK3):c.114C>T (p.Ser38=) rs2141542294
NM_020778.5(ALPK3):c.1175C>T (p.Ala392Val)
NM_020778.5(ALPK3):c.1186C>T (p.Pro396Ser)
NM_020778.5(ALPK3):c.11G>T (p.Arg4Leu)
NM_020778.5(ALPK3):c.1204G>T (p.Ala402Ser)
NM_020778.5(ALPK3):c.1214CAGGCC[3] (p.403PG[4]) rs755561788
NM_020778.5(ALPK3):c.1217G>A (p.Gly406Asp)
NM_020778.5(ALPK3):c.1223G>A (p.Gly408Asp)
NM_020778.5(ALPK3):c.1224C>T (p.Gly408=)
NM_020778.5(ALPK3):c.1226A>C (p.Gln409Pro)
NM_020778.5(ALPK3):c.1226A>T (p.Gln409Leu) rs765187060
NM_020778.5(ALPK3):c.1232_1248del (p.Val411fs)
NM_020778.5(ALPK3):c.1237T>G (p.Phe413Val) rs1596150023
NM_020778.5(ALPK3):c.1241C>G (p.Ser414Cys) rs758630539
NM_020778.5(ALPK3):c.1253T>C (p.Met418Thr)
NM_020778.5(ALPK3):c.1258C>G (p.Leu420Val)
NM_020778.5(ALPK3):c.1259T>A (p.Leu420Gln)
NM_020778.5(ALPK3):c.126C>A (p.Ser42Arg) rs909121019
NM_020778.5(ALPK3):c.126C>G (p.Ser42Arg)
NM_020778.5(ALPK3):c.1275A>G (p.Ala425=)
NM_020778.5(ALPK3):c.127G>A (p.Val43Met)
NM_020778.5(ALPK3):c.1284T>C (p.Pro428=)
NM_020778.5(ALPK3):c.1285C>T (p.Leu429Phe)
NM_020778.5(ALPK3):c.1288G>T (p.Gly430Trp) rs2141557079
NM_020778.5(ALPK3):c.1289G>C (p.Gly430Ala)
NM_020778.5(ALPK3):c.1303C>A (p.Gln435Lys)
NM_020778.5(ALPK3):c.1313G>A (p.Ser438Asn)
NM_020778.5(ALPK3):c.1316T>C (p.Val439Ala)
NM_020778.5(ALPK3):c.1317C>T (p.Val439=)
NM_020778.5(ALPK3):c.1318C>T (p.Arg440Trp)
NM_020778.5(ALPK3):c.1318_1319del (p.Arg440fs)
NM_020778.5(ALPK3):c.1319G>A (p.Arg440Gln)
NM_020778.5(ALPK3):c.131G>C (p.Arg44Pro) rs1963375355
NM_020778.5(ALPK3):c.131G>T (p.Arg44Leu)
NM_020778.5(ALPK3):c.1329G>T (p.Gly443=)
NM_020778.5(ALPK3):c.132G>T (p.Arg44=)
NM_020778.5(ALPK3):c.1334G>A (p.Ser445Asn)
NM_020778.5(ALPK3):c.1342G>A (p.Gly448Arg) rs750284989
NM_020778.5(ALPK3):c.1348G>A (p.Ala450Thr)
NM_020778.5(ALPK3):c.1352C>T (p.Pro451Leu)
NM_020778.5(ALPK3):c.135C>G (p.Pro45=) rs369591811
NM_020778.5(ALPK3):c.135_143+12del
NM_020778.5(ALPK3):c.135dup (p.Glu46fs)
NM_020778.5(ALPK3):c.1360G>T (p.Ala454Ser) rs2141557145
NM_020778.5(ALPK3):c.1369G>A (p.Glu457Lys) rs2141557154
NM_020778.5(ALPK3):c.136G>A (p.Glu46Lys) rs2141542332
NM_020778.5(ALPK3):c.1375G>T (p.Val459Leu)
NM_020778.5(ALPK3):c.137A>T (p.Glu46Val)
NM_020778.5(ALPK3):c.1383_1384delinsAC (p.Ala462Pro)
NM_020778.5(ALPK3):c.1384G>A (p.Ala462Thr)
NM_020778.5(ALPK3):c.1387C>G (p.Pro463Ala)
NM_020778.5(ALPK3):c.1406C>T (p.Ser469Phe)
NM_020778.5(ALPK3):c.1410G>T (p.Leu470Phe)
NM_020778.5(ALPK3):c.1412C>A (p.Thr471Asn)
NM_020778.5(ALPK3):c.1412C>G (p.Thr471Ser)
NM_020778.5(ALPK3):c.1413C>A (p.Thr471=)
NM_020778.5(ALPK3):c.1413C>T (p.Thr471=)
NM_020778.5(ALPK3):c.1417del (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.1421_1422insCACACACTCCTTGACCCTCCAGCC (p.Thr475_Arg476insHisSerLeuThrLeuGlnProThr)
NM_020778.5(ALPK3):c.1422G>A (p.Pro474=) rs147228539
NM_020778.5(ALPK3):c.143+18G>A
NM_020778.5(ALPK3):c.143+1G>A
NM_020778.5(ALPK3):c.143+6T>C
NM_020778.5(ALPK3):c.143+8G>C
NM_020778.5(ALPK3):c.1433T>A (p.Phe478Tyr)
NM_020778.5(ALPK3):c.1438del (p.Arg480fs) rs1963653131
NM_020778.5(ALPK3):c.144-14C>T
NM_020778.5(ALPK3):c.144-15G>A rs998807667
NM_020778.5(ALPK3):c.144-15G>T
NM_020778.5(ALPK3):c.144-4T>G
NM_020778.5(ALPK3):c.144-5C>T
NM_020778.5(ALPK3):c.144-8T>C
NM_020778.5(ALPK3):c.1443G>T (p.Lys481Asn)
NM_020778.5(ALPK3):c.1452C>T (p.Ala484=)
NM_020778.5(ALPK3):c.1455T>C (p.Pro485=) rs2141557258
NM_020778.5(ALPK3):c.1456C>G (p.Pro486Ala) rs1167204252
NM_020778.5(ALPK3):c.1469G>T (p.Gly490Val)
NM_020778.5(ALPK3):c.1471G>A (p.Glu491Lys) rs1340943180
NM_020778.5(ALPK3):c.1473G>C (p.Glu491Asp)
NM_020778.5(ALPK3):c.1478C>T (p.Thr493Ile) rs2141557297
NM_020778.5(ALPK3):c.157C>A (p.Arg53=)
NM_020778.5(ALPK3):c.157C>T (p.Arg53Trp)
NM_020778.5(ALPK3):c.1654-2A>C rs2141567039
NM_020778.5(ALPK3):c.1659G>A (p.Leu553=)
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser)
NM_020778.5(ALPK3):c.1674C>T (p.Thr558=)
NM_020778.5(ALPK3):c.1677G>A (p.Thr559=)
NM_020778.5(ALPK3):c.1678G>A (p.Ala560Thr)
NM_020778.5(ALPK3):c.1680T>C (p.Ala560=)
NM_020778.5(ALPK3):c.1681C>T (p.Pro561Ser)
NM_020778.5(ALPK3):c.1685C>T (p.Thr562Ile) rs772032580
NM_020778.5(ALPK3):c.1686C>T (p.Thr562=)
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg) rs150028343
NM_020778.5(ALPK3):c.168C>T (p.His56=)
NM_020778.5(ALPK3):c.16G>C (p.Ala6Pro)
NM_020778.5(ALPK3):c.1701C>A (p.Ser567Arg)
NM_020778.5(ALPK3):c.1711G>A (p.Val571Ile)
NM_020778.5(ALPK3):c.1712T>C (p.Val571Ala) rs2141567118
NM_020778.5(ALPK3):c.1713A>G (p.Val571=)
NM_020778.5(ALPK3):c.1720A>T (p.Ile574Phe)
NM_020778.5(ALPK3):c.1726G>T (p.Val576Phe)
NM_020778.5(ALPK3):c.1733C>T (p.Thr578Ile)
NM_020778.5(ALPK3):c.1750A>G (p.Ile584Val)
NM_020778.5(ALPK3):c.1754T>C (p.Ile585Thr) rs2141567160
NM_020778.5(ALPK3):c.1755T>C (p.Ile585=)
NM_020778.5(ALPK3):c.1756G>A (p.Glu586Lys)
NM_020778.5(ALPK3):c.1768A>T (p.Met590Leu)
NM_020778.5(ALPK3):c.1770G>A (p.Met590Ile)
NM_020778.5(ALPK3):c.1788G>A (p.Gly596=)
NM_020778.5(ALPK3):c.1795T>C (p.Ser599Pro)
NM_020778.5(ALPK3):c.1804C>T (p.Gln602Ter) rs1442250413
NM_020778.5(ALPK3):c.1811C>A (p.Thr604Asn)
NM_020778.5(ALPK3):c.182+7G>A
NM_020778.5(ALPK3):c.1820A>G (p.Lys607Arg)
NM_020778.5(ALPK3):c.1821G>A (p.Lys607=)
NM_020778.5(ALPK3):c.182G>A (p.Arg61Lys)
NM_020778.5(ALPK3):c.183-16_183-15delinsAT rs2141548766
NM_020778.5(ALPK3):c.183-17C>G
NM_020778.5(ALPK3):c.183-1G>A
NM_020778.5(ALPK3):c.183-3T>G
NM_020778.5(ALPK3):c.183-7C>G
NM_020778.5(ALPK3):c.183-9C>A
NM_020778.5(ALPK3):c.1830G>A (p.Val610=)
NM_020778.5(ALPK3):c.1836A>G (p.Ala612=) rs1342619273
NM_020778.5(ALPK3):c.1837G>A (p.Asp613Asn) rs766592149
NM_020778.5(ALPK3):c.1840G>A (p.Gly614Arg)
NM_020778.5(ALPK3):c.1845G>A (p.Lys615=)
NM_020778.5(ALPK3):c.1848A>G (p.Ile616Met)
NM_020778.5(ALPK3):c.1850A>G (p.Gln617Arg)
NM_020778.5(ALPK3):c.1853T>C (p.Val618Ala)
NM_020778.5(ALPK3):c.1856A>T (p.Asp619Val)
NM_020778.5(ALPK3):c.1862G>A (p.Arg621Lys)
NM_020778.5(ALPK3):c.1866C>T (p.Thr622=) rs2141567277
NM_020778.5(ALPK3):c.186C>A (p.Ser62Arg)
NM_020778.5(ALPK3):c.1891C>T (p.Gln631Ter)
NM_020778.5(ALPK3):c.1901G>A (p.Arg634His) rs34906636
NM_020778.5(ALPK3):c.1918C>T (p.Gln640Ter)
NM_020778.5(ALPK3):c.1921G>A (p.Val641Met)
NM_020778.5(ALPK3):c.1922T>G (p.Val641Gly)
NM_020778.5(ALPK3):c.1928C>G (p.Ala643Gly)
NM_020778.5(ALPK3):c.1928C>T (p.Ala643Val)
NM_020778.5(ALPK3):c.1942A>G (p.Ser648Gly) rs2141567342
NM_020778.5(ALPK3):c.1943G>A (p.Ser648Asn)
NM_020778.5(ALPK3):c.1943G>C (p.Ser648Thr) rs754100615
NM_020778.5(ALPK3):c.1958C>G (p.Ser653Ter)
NM_020778.5(ALPK3):c.1962C>T (p.Asp654=)
NM_020778.5(ALPK3):c.1967G>A (p.Ser656Asn)
NM_020778.5(ALPK3):c.1986G>A (p.Met662Ile)
NM_020778.5(ALPK3):c.1988C>T (p.Thr663Ile)
NM_020778.5(ALPK3):c.199A>G (p.Ile67Val)
NM_020778.5(ALPK3):c.19C>A (p.Pro7Thr) rs1963372992
NM_020778.5(ALPK3):c.2002G>C (p.Glu668Gln)
NM_020778.5(ALPK3):c.2005A>G (p.Thr669Ala)
NM_020778.5(ALPK3):c.2022A>G (p.Thr674=)
NM_020778.5(ALPK3):c.2026G>T (p.Ala676Ser)
NM_020778.5(ALPK3):c.203T>C (p.Ile68Thr)
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_020778.5(ALPK3):c.2056G>A (p.Ala686Thr)
NM_020778.5(ALPK3):c.2056G>C (p.Ala686Pro)
NM_020778.5(ALPK3):c.206C>T (p.Ala69Val) rs966823226
NM_020778.5(ALPK3):c.2070G>A (p.Lys690=)
NM_020778.5(ALPK3):c.2072G>A (p.Gly691Asp)
NM_020778.5(ALPK3):c.2077C>G (p.Gln693Glu)
NM_020778.5(ALPK3):c.208C>T (p.Gln70Ter)
NM_020778.5(ALPK3):c.2093T>G (p.Met698Arg) rs1963867504
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[1] (p.698MQGEKG[1]) rs759322802
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[3] (p.Gly709_Thr710insMetGlnGlyGluLysGly)
NM_020778.5(ALPK3):c.2094G>A (p.Met698Ile)
NM_020778.5(ALPK3):c.2094G>T (p.Met698Ile)
NM_020778.5(ALPK3):c.2095C>T (p.Gln699Ter)
NM_020778.5(ALPK3):c.2109G>C (p.Gly703=) rs1374187352
NM_020778.5(ALPK3):c.2117G>T (p.Gly706Val)
NM_020778.5(ALPK3):c.2123del (p.Lys708fs)
NM_020778.5(ALPK3):c.2124G>C (p.Lys708Asn)
NM_020778.5(ALPK3):c.2127del (p.Thr710fs) rs1963867873
NM_020778.5(ALPK3):c.2129C>T (p.Thr710Met)
NM_020778.5(ALPK3):c.2130G>A (p.Thr710=) rs147611382
NM_020778.5(ALPK3):c.213C>A (p.Leu71=)
NM_020778.5(ALPK3):c.2142G>A (p.Gly714=)
NM_020778.5(ALPK3):c.2145C>T (p.Ser715=)
NM_020778.5(ALPK3):c.2153C>T (p.Thr718Ile)
NM_020778.5(ALPK3):c.2157C>A (p.Ala719=) rs1165760143
NM_020778.5(ALPK3):c.2158A>T (p.Met720Leu)
NM_020778.5(ALPK3):c.215C>T (p.Thr72Ile) rs781502917
NM_020778.5(ALPK3):c.2164G>T (p.Gly722Cys)
NM_020778.5(ALPK3):c.2166T>A (p.Gly722=)
NM_020778.5(ALPK3):c.2181G>A (p.Glu727=)
NM_020778.5(ALPK3):c.2183T>A (p.Val728Glu)
NM_020778.5(ALPK3):c.2186C>T (p.Ala729Val)
NM_020778.5(ALPK3):c.2190C>G (p.Thr730=)
NM_020778.5(ALPK3):c.2197G>A (p.Gly733Ser) rs34443853
NM_020778.5(ALPK3):c.2198G>T (p.Gly733Val)
NM_020778.5(ALPK3):c.2200C>T (p.Pro734Ser) rs1295230054
NM_020778.5(ALPK3):c.2211A>G (p.Arg737=)
NM_020778.5(ALPK3):c.2218A>T (p.Lys740Ter) rs2141567598
NM_020778.5(ALPK3):c.2221C>T (p.Leu741Phe)
NM_020778.5(ALPK3):c.2223C>G (p.Leu741=) rs138935453
NM_020778.5(ALPK3):c.2232A>G (p.Thr744=) rs2141567616
NM_020778.5(ALPK3):c.2235G>A (p.Ala745=)
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.2238T>A (p.Gly746=)
NM_020778.5(ALPK3):c.2244dup (p.Ala749fs)
NM_020778.5(ALPK3):c.2267T>C (p.Phe756Ser)
NM_020778.5(ALPK3):c.2272C>A (p.Gln758Lys)
NM_020778.5(ALPK3):c.2275A>G (p.Thr759Ala)
NM_020778.5(ALPK3):c.2281G>C (p.Glu761Gln)
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
NM_020778.5(ALPK3):c.2285G>A (p.Gly762Glu) rs267604353
NM_020778.5(ALPK3):c.2285G>T (p.Gly762Val)
NM_020778.5(ALPK3):c.2299A>G (p.Lys767Glu)
NM_020778.5(ALPK3):c.2304A>T (p.Lys768Asn)
NM_020778.5(ALPK3):c.2306C>G (p.Pro769Arg)
NM_020778.5(ALPK3):c.231G>A (p.Pro77=)
NM_020778.5(ALPK3):c.2331G>A (p.Glu777=) rs1963871731
NM_020778.5(ALPK3):c.2336T>C (p.Val779Ala)
NM_020778.5(ALPK3):c.2339T>C (p.Val780Ala)
NM_020778.5(ALPK3):c.233T>C (p.Leu78Pro)
NM_020778.5(ALPK3):c.2342C>T (p.Thr781Ile)
NM_020778.5(ALPK3):c.2344G>A (p.Ala782Thr)
NM_020778.5(ALPK3):c.2346C>T (p.Ala782=)
NM_020778.5(ALPK3):c.2346del (p.Ser783fs)
NM_020778.5(ALPK3):c.234A>T (p.Leu78=) rs2141548849
NM_020778.5(ALPK3):c.2357A>G (p.His786Arg)
NM_020778.5(ALPK3):c.2358T>A (p.His786Gln)
NM_020778.5(ALPK3):c.2365A>T (p.Thr789Ser)
NM_020778.5(ALPK3):c.2366C>G (p.Thr789Ser)
NM_020778.5(ALPK3):c.2368G>A (p.Val790Met) rs1472038881
NM_020778.5(ALPK3):c.2370G>T (p.Val790=) rs1409282044
NM_020778.5(ALPK3):c.2376T>A (p.Gly792=) rs1057524352
NM_020778.5(ALPK3):c.2377C>T (p.Pro793Ser)
NM_020778.5(ALPK3):c.2378C>G (p.Pro793Arg)
NM_020778.5(ALPK3):c.2379C>T (p.Pro793=) rs887413105
NM_020778.5(ALPK3):c.2382G>C (p.Leu794=)
NM_020778.5(ALPK3):c.2385A>G (p.Ser795=)
NM_020778.5(ALPK3):c.2393T>C (p.Leu798Pro) rs1002796135
NM_020778.5(ALPK3):c.2394C>G (p.Leu798=)
NM_020778.5(ALPK3):c.2398C>A (p.Leu800Ile)
NM_020778.5(ALPK3):c.2398C>G (p.Leu800Val)
NM_020778.5(ALPK3):c.2400C>T (p.Leu800=)
NM_020778.5(ALPK3):c.2407C>T (p.Gln803Ter) rs1555435405
NM_020778.5(ALPK3):c.240G>T (p.Glu80Asp)
NM_020778.5(ALPK3):c.2411C>T (p.Pro804Leu)
NM_020778.5(ALPK3):c.2414C>T (p.Pro805Leu)
NM_020778.5(ALPK3):c.2417A>G (p.His806Arg)
NM_020778.5(ALPK3):c.2424G>C (p.Gly808=)
NM_020778.5(ALPK3):c.2429T>A (p.Val810Glu) rs2141567836
NM_020778.5(ALPK3):c.2432A>G (p.Glu811Gly) rs2141567846
NM_020778.5(ALPK3):c.2437dup (p.Val813fs) rs765189194
NM_020778.5(ALPK3):c.2455C>T (p.Arg819Ter)
NM_020778.5(ALPK3):c.2458G>C (p.Gly820Arg)
NM_020778.5(ALPK3):c.2460G>A (p.Gly820=)
NM_020778.5(ALPK3):c.2464_2465del (p.Gln822fs)
NM_020778.5(ALPK3):c.2465A>G (p.Gln822Arg)
NM_020778.5(ALPK3):c.2466G>T (p.Gln822His) rs1963874697
NM_020778.5(ALPK3):c.246G>A (p.Thr82=)
NM_020778.5(ALPK3):c.2493G>T (p.Gln831His)
NM_020778.5(ALPK3):c.2497G>T (p.Asp833Tyr) rs2141567926
NM_020778.5(ALPK3):c.249C>G (p.Leu83=)
NM_020778.5(ALPK3):c.24C>A (p.Ser8Arg) rs1301150493
NM_020778.5(ALPK3):c.2504C>A (p.Pro835Gln)
NM_020778.5(ALPK3):c.2505G>A (p.Pro835=)
NM_020778.5(ALPK3):c.2509C>T (p.Gln837Ter)
NM_020778.5(ALPK3):c.2510A>T (p.Gln837Leu) rs1057524086
NM_020778.5(ALPK3):c.2511G>A (p.Gln837=)
NM_020778.5(ALPK3):c.2515C>T (p.Pro839Ser)
NM_020778.5(ALPK3):c.2533G>C (p.Gly845Arg)
NM_020778.5(ALPK3):c.2534G>A (p.Gly845Glu) rs948234674
NM_020778.5(ALPK3):c.2536G>A (p.Gly846Arg)
NM_020778.5(ALPK3):c.2536G>T (p.Gly846Ter) rs202153052
NM_020778.5(ALPK3):c.2539G>A (p.Val847Met)
NM_020778.5(ALPK3):c.2550G>T (p.Met850Ile) rs2141568018
NM_020778.5(ALPK3):c.2561G>A (p.Gly854Asp)
NM_020778.5(ALPK3):c.2564G>A (p.Cys855Tyr)
NM_020778.5(ALPK3):c.2568T>G (p.Pro856=)
NM_020778.5(ALPK3):c.256del (p.Arg86fs)
NM_020778.5(ALPK3):c.2571A>G (p.Leu857=)
NM_020778.5(ALPK3):c.257G>A (p.Arg86Gln)
NM_020778.5(ALPK3):c.2582G>A (p.Ser861Asn)
NM_020778.5(ALPK3):c.2593C>A (p.Pro865Thr)
NM_020778.5(ALPK3):c.2593C>T (p.Pro865Ser)
NM_020778.5(ALPK3):c.2598G>A (p.Thr866=)
NM_020778.5(ALPK3):c.2598G>C (p.Thr866=) rs200842914
NM_020778.5(ALPK3):c.2608C>T (p.Leu870Phe)
NM_020778.5(ALPK3):c.2611C>T (p.Pro871Ser) rs1439652574
NM_020778.5(ALPK3):c.2612del (p.Pro871fs) rs2141568088
NM_020778.5(ALPK3):c.2619T>G (p.Thr873=) rs1381348798
NM_020778.5(ALPK3):c.261T>G (p.Ser87=)
NM_020778.5(ALPK3):c.262G>T (p.Val88Leu)
NM_020778.5(ALPK3):c.2637A>G (p.Pro879=)
NM_020778.5(ALPK3):c.2643G>A (p.Ala881=)
NM_020778.5(ALPK3):c.2651G>A (p.Cys884Tyr)
NM_020778.5(ALPK3):c.2658C>T (p.Thr886=)
NM_020778.5(ALPK3):c.2659C>T (p.Pro887Ser)
NM_020778.5(ALPK3):c.2661G>C (p.Pro887=)
NM_020778.5(ALPK3):c.2668C>T (p.Gln890Ter)
NM_020778.5(ALPK3):c.2677A>C (p.Ser893Arg)
NM_020778.5(ALPK3):c.2678G>C (p.Ser893Thr)
NM_020778.5(ALPK3):c.2679C>G (p.Ser893Arg)
NM_020778.5(ALPK3):c.268G>A (p.Glu90Lys) rs780318912
NM_020778.5(ALPK3):c.268G>C (p.Glu90Gln)
NM_020778.5(ALPK3):c.2694G>C (p.Leu898=)
NM_020778.5(ALPK3):c.2702A>G (p.Glu901Gly)
NM_020778.5(ALPK3):c.2707C>A (p.Gln903Lys)
NM_020778.5(ALPK3):c.2716A>T (p.Met906Leu) rs1249860975
NM_020778.5(ALPK3):c.271G>T (p.Asp91Tyr)
NM_020778.5(ALPK3):c.2720G>A (p.Ser907Asn)
NM_020778.5(ALPK3):c.2728C>T (p.Pro910Ser)
NM_020778.5(ALPK3):c.2729del (p.Pro910fs) rs2141568204
NM_020778.5(ALPK3):c.2737C>T (p.His913Tyr) rs2141568220
NM_020778.5(ALPK3):c.2745G>T (p.Gly915=)
NM_020778.5(ALPK3):c.2754C>A (p.Thr918=) rs1045217338
NM_020778.5(ALPK3):c.2757dup (p.Thr920fs) rs2141568242
NM_020778.5(ALPK3):c.2760dup (p.Gln921fs)
NM_020778.5(ALPK3):c.2761C>T (p.Gln921Ter)
NM_020778.5(ALPK3):c.2766T>C (p.Ser922=)
NM_020778.5(ALPK3):c.2770_2771delinsGA (p.Pro924Glu)
NM_020778.5(ALPK3):c.2771C>T (p.Pro924Leu) rs1346027337
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
NM_020778.5(ALPK3):c.2785G>A (p.Ala929Thr)
NM_020778.5(ALPK3):c.2789C>T (p.Thr930Ile)
NM_020778.5(ALPK3):c.2803G>C (p.Ala935Pro)
NM_020778.5(ALPK3):c.2803G>T (p.Ala935Ser) rs1192258761
NM_020778.5(ALPK3):c.2809G>A (p.Ala937Thr)
NM_020778.5(ALPK3):c.280G>A (p.Val94Ile)
NM_020778.5(ALPK3):c.2821G>C (p.Asp941His)
NM_020778.5(ALPK3):c.2827G>A (p.Glu943Lys)
NM_020778.5(ALPK3):c.2829G>T (p.Glu943Asp)
NM_020778.5(ALPK3):c.2833C>A (p.Arg945=)
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp)
NM_020778.5(ALPK3):c.2834G>A (p.Arg945Gln) rs377166800
NM_020778.5(ALPK3):c.2842G>A (p.Gly948Ser) rs1217503979
NM_020778.5(ALPK3):c.2842G>T (p.Gly948Cys)
NM_020778.5(ALPK3):c.2844T>C (p.Gly948=)
NM_020778.5(ALPK3):c.2845C>G (p.Pro949Ala)
NM_020778.5(ALPK3):c.2845C>T (p.Pro949Ser)
NM_020778.5(ALPK3):c.2847C>T (p.Pro949=)
NM_020778.5(ALPK3):c.2849G>T (p.Arg950Leu) rs772259344
NM_020778.5(ALPK3):c.2860C>T (p.Pro954Ser)
NM_020778.5(ALPK3):c.2864G>A (p.Gly955Asp)
NM_020778.5(ALPK3):c.286T>C (p.Phe96Leu)
NM_020778.5(ALPK3):c.2872G>C (p.Asp958His)
NM_020778.5(ALPK3):c.2876C>T (p.Ser959Phe)
NM_020778.5(ALPK3):c.2885A>G (p.Asn962Ser)
NM_020778.5(ALPK3):c.2887T>C (p.Tyr963His)
NM_020778.5(ALPK3):c.2892G>A (p.Leu964=)
NM_020778.5(ALPK3):c.2896CTG[2] (p.Leu968del)
NM_020778.5(ALPK3):c.2909T>C (p.Leu970Pro)
NM_020778.5(ALPK3):c.2910G>A (p.Leu970=)
NM_020778.5(ALPK3):c.2910G>T (p.Leu970=)
NM_020778.5(ALPK3):c.2915G>A (p.Ser972Asn)
NM_020778.5(ALPK3):c.2917A>C (p.Thr973Pro)
NM_020778.5(ALPK3):c.2918C>G (p.Thr973Arg)
NM_020778.5(ALPK3):c.291C>A (p.Thr97=)
NM_020778.5(ALPK3):c.2927del (p.Ser976fs)
NM_020778.5(ALPK3):c.2929G>A (p.Gly977Arg)
NM_020778.5(ALPK3):c.292T>C (p.Cys98Arg) rs1963503521
NM_020778.5(ALPK3):c.2937G>A (p.Gly979=)
NM_020778.5(ALPK3):c.2938G>T (p.Gly980Ter) rs1596155634
NM_020778.5(ALPK3):c.2939G>C (p.Gly980Ala)
NM_020778.5(ALPK3):c.293G>C (p.Cys98Ser)
NM_020778.5(ALPK3):c.2940A>C (p.Gly980=) rs1221364093
NM_020778.5(ALPK3):c.2941G>A (p.Glu981Lys)
NM_020778.5(ALPK3):c.2949G>A (p.Gln983=)
NM_020778.5(ALPK3):c.2952G>C (p.Val984=)
NM_020778.5(ALPK3):c.2954G>A (p.Gly985Glu)
NM_020778.5(ALPK3):c.2960C>T (p.Ala987Val)
NM_020778.5(ALPK3):c.2963C>T (p.Thr988Ile) rs2141568498
NM_020778.5(ALPK3):c.297C>T (p.Ile99=)
NM_020778.5(ALPK3):c.2986A>G (p.Thr996Ala)
NM_020778.5(ALPK3):c.2987C>G (p.Thr996Ser) rs2141568517
NM_020778.5(ALPK3):c.2999C>T (p.Thr1000Ile)
NM_020778.5(ALPK3):c.29G>T (p.Gly10Val)
NM_020778.5(ALPK3):c.3015del (p.Ser1007fs)
NM_020778.5(ALPK3):c.3017T>G (p.Leu1006Arg) rs1963884081
NM_020778.5(ALPK3):c.3019A>C (p.Ser1007Arg)
NM_020778.5(ALPK3):c.3024C>G (p.Pro1008=)
NM_020778.5(ALPK3):c.3026G>C (p.Arg1009Pro) rs138597569
NM_020778.5(ALPK3):c.3030A>G (p.Thr1010=)
NM_020778.5(ALPK3):c.3033G>A (p.Ser1011=)
NM_020778.5(ALPK3):c.3037C>G (p.Arg1013Gly)
NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys) rs142109538
NM_020778.5(ALPK3):c.304+12G>C
NM_020778.5(ALPK3):c.304+2T>A
NM_020778.5(ALPK3):c.304+7A>C rs1182495506
NM_020778.5(ALPK3):c.304+8T>C rs375713380
NM_020778.5(ALPK3):c.3048G>A (p.Glu1016=)
NM_020778.5(ALPK3):c.305-12C>T
NM_020778.5(ALPK3):c.305-13G>C
NM_020778.5(ALPK3):c.305-16C>T rs1050900275
NM_020778.5(ALPK3):c.305-18C>A rs1896864
NM_020778.5(ALPK3):c.305-18C>G rs1896864
NM_020778.5(ALPK3):c.305-1G>A
NM_020778.5(ALPK3):c.305-341_305-340insAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTATTAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTAT rs145586317
NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTATTAT rs145586317
NM_020778.5(ALPK3):c.305-341del rs72522608
NM_020778.5(ALPK3):c.305-7_305-4del rs1963625170
NM_020778.5(ALPK3):c.305-9C>T
NM_020778.5(ALPK3):c.3057G>A (p.Glu1019=)
NM_020778.5(ALPK3):c.3058A>T (p.Asn1020Tyr)
NM_020778.5(ALPK3):c.3058AAC[1] (p.Asn1021del)
NM_020778.5(ALPK3):c.3060C>G (p.Asn1020Lys)
NM_020778.5(ALPK3):c.3060C>T (p.Asn1020=)
NM_020778.5(ALPK3):c.3062A>C (p.Asn1021Thr) rs2141568606
NM_020778.5(ALPK3):c.3067C>T (p.Leu1023=)
NM_020778.5(ALPK3):c.3080C>A (p.Ala1027Glu)
NM_020778.5(ALPK3):c.3081A>G (p.Ala1027=)
NM_020778.5(ALPK3):c.3084G>T (p.Gln1028His)
NM_020778.5(ALPK3):c.3089T>C (p.Leu1030Pro) rs2141568627
NM_020778.5(ALPK3):c.3099C>T (p.Ser1033=)
NM_020778.5(ALPK3):c.30_63delinsGTCGGGTCGGGGCTGGGTCGGGGCTGGGTCGGGGGCGGGGGGCGACGGTGAGGACGGTGGG (p.Trp11_Ala19delinsSerGlyArgGlyTrpValGlyAlaGlySerGlyAlaGlyGlyAspGlyGluAsp)
NM_020778.5(ALPK3):c.3112C>G (p.Arg1038Gly)
NM_020778.5(ALPK3):c.3123C>T (p.Thr1041=)
NM_020778.5(ALPK3):c.3125G>A (p.Gly1042Asp)
NM_020778.5(ALPK3):c.3134_3659del (p.Asp1045fs) rs2141568675
NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys) rs34414438
NM_020778.5(ALPK3):c.3150_3153dup (p.Arg1052fs)
NM_020778.5(ALPK3):c.315G>A (p.Glu105=)
NM_020778.5(ALPK3):c.3172G>A (p.Ala1058Thr)
NM_020778.5(ALPK3):c.3175C>G (p.Arg1059Gly)
NM_020778.5(ALPK3):c.3176G>A (p.Arg1059Gln)
NM_020778.5(ALPK3):c.3187G>C (p.Gly1063Arg)
NM_020778.5(ALPK3):c.3188G>A (p.Gly1063Asp)
NM_020778.5(ALPK3):c.3193G>A (p.Gly1065Ser)
NM_020778.5(ALPK3):c.3194G>A (p.Gly1065Asp)
NM_020778.5(ALPK3):c.3201C>T (p.Ser1067=)
NM_020778.5(ALPK3):c.3203C>T (p.Ser1068Phe)
NM_020778.5(ALPK3):c.3205C>T (p.Leu1069Phe)
NM_020778.5(ALPK3):c.3207C>T (p.Leu1069=)
NM_020778.5(ALPK3):c.320A>G (p.Glu107Gly)
NM_020778.5(ALPK3):c.3214C>T (p.Pro1072Ser)
NM_020778.5(ALPK3):c.3224T>G (p.Val1075Gly)
NM_020778.5(ALPK3):c.3231_3232del (p.Asp1077fs) rs2141568790
NM_020778.5(ALPK3):c.3238del (p.Asp1080fs)
NM_020778.5(ALPK3):c.324G>A (p.Val108=)
NM_020778.5(ALPK3):c.3250G>A (p.Ala1084Thr)
NM_020778.5(ALPK3):c.3254C>T (p.Ser1085Leu)
NM_020778.5(ALPK3):c.3260G>A (p.Gly1087Glu)
NM_020778.5(ALPK3):c.326C>A (p.Thr109Asn)
NM_020778.5(ALPK3):c.3272G>A (p.Gly1091Asp)
NM_020778.5(ALPK3):c.3286T>C (p.Ser1096Pro)
NM_020778.5(ALPK3):c.3286del (p.Ser1096fs)
NM_020778.5(ALPK3):c.3287C>G (p.Ser1096Cys)
NM_020778.5(ALPK3):c.3289_3290delinsTT (p.Pro1097Phe) rs2141568853
NM_020778.5(ALPK3):c.3292G>C (p.Glu1098Gln)
NM_020778.5(ALPK3):c.3292G>T (p.Glu1098Ter) rs762559979
NM_020778.5(ALPK3):c.3295G>A (p.Gly1099Arg) rs1234276224
NM_020778.5(ALPK3):c.3297G>A (p.Gly1099=) rs1963888619
NM_020778.5(ALPK3):c.3297G>T (p.Gly1099=)
NM_020778.5(ALPK3):c.3304C>G (p.Leu1102Val)
NM_020778.5(ALPK3):c.3306C>T (p.Leu1102=) rs774100440
NM_020778.5(ALPK3):c.3307C>G (p.Leu1103Val)
NM_020778.5(ALPK3):c.3310G>A (p.Gly1104Arg) rs1963888916
NM_020778.5(ALPK3):c.3321G>A (p.Gln1107=)
NM_020778.5(ALPK3):c.3322G>A (p.Glu1108Lys) rs2141568923
NM_020778.5(ALPK3):c.3343C>A (p.Leu1115Met)
NM_020778.5(ALPK3):c.3344T>C (p.Leu1115Pro)
NM_020778.5(ALPK3):c.3357T>G (p.Gly1119=) rs1042969477
NM_020778.5(ALPK3):c.3368C>A (p.Ala1123Asp)
NM_020778.5(ALPK3):c.3375A>C (p.Gly1125=)
NM_020778.5(ALPK3):c.3380G>A (p.Gly1127Glu)
NM_020778.5(ALPK3):c.3382C>T (p.Pro1128Ser)
NM_020778.5(ALPK3):c.3387_3413del (p.Ala1130_Ser1138del)
NM_020778.5(ALPK3):c.3393G>C (p.Glu1131Asp)
NM_020778.5(ALPK3):c.3395G>A (p.Ser1132Asn) rs374108436
NM_020778.5(ALPK3):c.3398T>C (p.Ile1133Thr)
NM_020778.5(ALPK3):c.3398_3399dup (p.Ala1134Ter) rs1963891093
NM_020778.5(ALPK3):c.3404_3411dup (p.Ser1138fs) rs2141569048
NM_020778.5(ALPK3):c.3406G>A (p.Glu1136Lys)
NM_020778.5(ALPK3):c.3406G>C (p.Glu1136Gln)
NM_020778.5(ALPK3):c.3410C>T (p.Pro1137Leu)
NM_020778.5(ALPK3):c.3419A>G (p.Glu1140Gly) rs758605573
NM_020778.5(ALPK3):c.3419A>T (p.Glu1140Val)
NM_020778.5(ALPK3):c.3423G>T (p.Glu1141Asp)
NM_020778.5(ALPK3):c.3431C>T (p.Pro1144Leu)
NM_020778.5(ALPK3):c.3432del (p.Glu1146fs)
NM_020778.5(ALPK3):c.3437_3438dup (p.Ala1147fs) rs2141569123
NM_020778.5(ALPK3):c.3441del (p.Ala1147_Leu1148insTer)
NM_020778.5(ALPK3):c.3449_3450inv (p.Gly1150Asp)
NM_020778.5(ALPK3):c.3450_3451delinsCT (p.Leu1151Phe) rs2141569156
NM_020778.5(ALPK3):c.3452T>A (p.Leu1151His)
NM_020778.5(ALPK3):c.3453C>T (p.Leu1151=)
NM_020778.5(ALPK3):c.3454C>T (p.Pro1152Ser) rs780056277
NM_020778.5(ALPK3):c.3455C>A (p.Pro1152Gln)
NM_020778.5(ALPK3):c.3458C>A (p.Ala1153Glu)
NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
NM_020778.5(ALPK3):c.3469G>A (p.Glu1157Lys)
NM_020778.5(ALPK3):c.3487G>A (p.Ala1163Thr) rs372770939
NM_020778.5(ALPK3):c.3491G>A (p.Arg1164Gln) rs1291790142
NM_020778.5(ALPK3):c.3491G>T (p.Arg1164Leu)
NM_020778.5(ALPK3):c.34G>A (p.Gly12Ser)
NM_020778.5(ALPK3):c.3502T>C (p.Phe1168Leu)
NM_020778.5(ALPK3):c.3505C>T (p.Leu1169Phe)
NM_020778.5(ALPK3):c.3506T>C (p.Leu1169Pro)
NM_020778.5(ALPK3):c.3509C>G (p.Pro1170Arg) rs1273597463
NM_020778.5(ALPK3):c.350_352del (p.Leu117_Asp118delinsHis)
NM_020778.5(ALPK3):c.3512A>C (p.Lys1171Thr)
NM_020778.5(ALPK3):c.3521C>G (p.Ala1174Gly)
NM_020778.5(ALPK3):c.3524C>G (p.Ala1175Gly)
NM_020778.5(ALPK3):c.3531C>G (p.Asp1177Glu) rs115438635
NM_020778.5(ALPK3):c.3535G>A (p.Glu1179Lys) rs776845827
NM_020778.5(ALPK3):c.3535G>C (p.Glu1179Gln)
NM_020778.5(ALPK3):c.3535del (p.Glu1179fs) rs1567094168
NM_020778.5(ALPK3):c.353A>G (p.Asp118Gly) rs1596149322
NM_020778.5(ALPK3):c.3541A>G (p.Thr1181Ala)
NM_020778.5(ALPK3):c.3544A>G (p.Thr1182Ala)
NM_020778.5(ALPK3):c.3546A>G (p.Thr1182=)
NM_020778.5(ALPK3):c.3548C>T (p.Pro1183Leu)
NM_020778.5(ALPK3):c.3555_3560dup (p.Arg1186_Glu1187dup) rs756614935
NM_020778.5(ALPK3):c.3557G>A (p.Arg1186Lys)
NM_020778.5(ALPK3):c.3562A>G (p.Ser1188Gly)
NM_020778.5(ALPK3):c.3568A>G (p.Thr1190Ala)
NM_020778.5(ALPK3):c.3568A>T (p.Thr1190Ser)
NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)
NM_020778.5(ALPK3):c.3575C>T (p.Ser1192Phe)
NM_020778.5(ALPK3):c.3577C>T (p.Pro1193Ser)
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln) rs543260061
NM_020778.5(ALPK3):c.3584G>A (p.Gly1195Glu)
NM_020778.5(ALPK3):c.3585G>A (p.Gly1195=)
NM_020778.5(ALPK3):c.3588del (p.Arg1197fs)
NM_020778.5(ALPK3):c.3595A>T (p.Ser1199Cys)
NM_020778.5(ALPK3):c.3597C>T (p.Ser1199=)
NM_020778.5(ALPK3):c.35G>C (p.Gly12Ala)
NM_020778.5(ALPK3):c.3601G>A (p.Val1201Met)
NM_020778.5(ALPK3):c.3602T>G (p.Val1201Gly)
NM_020778.5(ALPK3):c.3604C>T (p.Pro1202Ser)
NM_020778.5(ALPK3):c.3605C>T (p.Pro1202Leu)
NM_020778.5(ALPK3):c.3606_3613del (p.Gly1203fs)
NM_020778.5(ALPK3):c.3610_3618del (p.Ser1204_Gly1206del) rs748783854
NM_020778.5(ALPK3):c.3613C>T (p.Pro1205Ser)
NM_020778.5(ALPK3):c.3619A>C (p.Thr1207Pro)
NM_020778.5(ALPK3):c.361T>C (p.Cys121Arg)
NM_020778.5(ALPK3):c.3621T>G (p.Thr1207=)
NM_020778.5(ALPK3):c.3629_3654del (p.Arg1210fs)
NM_020778.5(ALPK3):c.3638G>A (p.Arg1213His)
NM_020778.5(ALPK3):c.3639C>T (p.Arg1213=)
NM_020778.5(ALPK3):c.3640_3643dup (p.Pro1215fs) rs756970868
NM_020778.5(ALPK3):c.3644C>T (p.Pro1215Leu)
NM_020778.5(ALPK3):c.3649C>G (p.Gln1217Glu)
NM_020778.5(ALPK3):c.3652_3656dup (p.Lys1220fs)
NM_020778.5(ALPK3):c.365G>A (p.Gly122Asp)
NM_020778.5(ALPK3):c.3660G>A (p.Lys1220=)
NM_020778.5(ALPK3):c.3663G>A (p.Ala1221=)
NM_020778.5(ALPK3):c.3674A>C (p.Glu1225Ala)
NM_020778.5(ALPK3):c.3678G>T (p.Val1226=)
NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly) rs537104966
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp) rs537104966
NM_020778.5(ALPK3):c.3688GAG[2] (p.Glu1232del)
NM_020778.5(ALPK3):c.36C>A (p.Gly12=)
NM_020778.5(ALPK3):c.36C>G (p.Gly12=)
NM_020778.5(ALPK3):c.36C>T (p.Gly12=)
NM_020778.5(ALPK3):c.3700G>A (p.Ala1234Thr)
NM_020778.5(ALPK3):c.3710A>G (p.Asp1237Gly)
NM_020778.5(ALPK3):c.3714G>A (p.Leu1238=)
NM_020778.5(ALPK3):c.3716del (p.Gly1239fs)
NM_020778.5(ALPK3):c.371C>G (p.Pro124Arg)
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_020778.5(ALPK3):c.3728A>G (p.Lys1243Arg)
NM_020778.5(ALPK3):c.3734_3735delinsTT (p.Gly1245Val)
NM_020778.5(ALPK3):c.3735C>G (p.Gly1245=)
NM_020778.5(ALPK3):c.3745_3746delinsCT (p.Thr1249Leu) rs2141569584
NM_020778.5(ALPK3):c.3754G>T (p.Ala1252Ser) rs2141569602
NM_020778.5(ALPK3):c.3760G>A (p.Asp1254Asn) rs1166623972
NM_020778.5(ALPK3):c.3780A>C (p.Thr1260=)
NM_020778.5(ALPK3):c.3780A>G (p.Thr1260=)
NM_020778.5(ALPK3):c.378T>C (p.Tyr126=)
NM_020778.5(ALPK3):c.3794G>A (p.Arg1265Lys)
NM_020778.5(ALPK3):c.379G>A (p.Glu127Lys)
NM_020778.5(ALPK3):c.37G>A (p.Ala13Thr) rs936606117
NM_020778.5(ALPK3):c.3802A>G (p.Lys1268Glu) rs1963899685
NM_020778.5(ALPK3):c.3808C>T (p.Leu1270=) rs2141569644
NM_020778.5(ALPK3):c.3817+1G>A
NM_020778.5(ALPK3):c.3817+7A>G
NM_020778.5(ALPK3):c.3817G>A (p.Ala1273Thr)
NM_020778.5(ALPK3):c.3818-10del
NM_020778.5(ALPK3):c.3818-12C>G rs1963908337
NM_020778.5(ALPK3):c.3818-14G>A
NM_020778.5(ALPK3):c.3818-16T>G rs755306115
NM_020778.5(ALPK3):c.3818-17C>A
NM_020778.5(ALPK3):c.3818-277C>T rs149202140
NM_020778.5(ALPK3):c.3818C>G (p.Ala1273Gly) rs2141570151
NM_020778.5(ALPK3):c.3820C>T (p.Pro1274Ser)
NM_020778.5(ALPK3):c.3826G>A (p.Val1276Met)
NM_020778.5(ALPK3):c.382A>T (p.Ile128Phe)
NM_020778.5(ALPK3):c.3832C>A (p.Arg1278=)
NM_020778.5(ALPK3):c.3833G>A (p.Arg1278Gln)
NM_020778.5(ALPK3):c.3833G>C (p.Arg1278Pro)
NM_020778.5(ALPK3):c.3834G>C (p.Arg1278=)
NM_020778.5(ALPK3):c.3835A>C (p.Lys1279Gln)
NM_020778.5(ALPK3):c.3868G>A (p.Gly1290Ser)
NM_020778.5(ALPK3):c.386_389del (p.Thr129fs) rs1596149339
NM_020778.5(ALPK3):c.3882G>A (p.Leu1294=)
NM_020778.5(ALPK3):c.3884G>A (p.Trp1295Ter) rs2141570234
NM_020778.5(ALPK3):c.3885G>A (p.Trp1295Ter)
NM_020778.5(ALPK3):c.3886T>G (p.Cys1296Gly)
NM_020778.5(ALPK3):c.3890dup (p.Phe1298fs) rs2141570246
NM_020778.5(ALPK3):c.3900C>T (p.Asn1300=)
NM_020778.5(ALPK3):c.3902T>C (p.Ile1301Thr)
NM_020778.5(ALPK3):c.3903T>A (p.Ile1301=)
NM_020778.5(ALPK3):c.3906T>C (p.Leu1302=) rs2141570257
NM_020778.5(ALPK3):c.3912C>T (p.Asp1304=)
NM_020778.5(ALPK3):c.3919T>G (p.Leu1307Val)
NM_020778.5(ALPK3):c.3923C>G (p.Thr1308Arg)
NM_020778.5(ALPK3):c.3924A>C (p.Thr1308=)
NM_020778.5(ALPK3):c.3924A>G (p.Thr1308=)
NM_020778.5(ALPK3):c.3924A>T (p.Thr1308=)
NM_020778.5(ALPK3):c.3925T>G (p.Trp1309Gly)
NM_020778.5(ALPK3):c.3936_3937del (p.Asp1312fs) rs2141570299
NM_020778.5(ALPK3):c.3946G>A (p.Val1316Met)
NM_020778.5(ALPK3):c.3951C>T (p.Gly1317=)
NM_020778.5(ALPK3):c.3963G>A (p.Arg1321=)
NM_020778.5(ALPK3):c.3965+10C>T
NM_020778.5(ALPK3):c.3965+15C>T
NM_020778.5(ALPK3):c.3965+17_3965+25del
NM_020778.5(ALPK3):c.3965+2T>C
NM_020778.5(ALPK3):c.3966-18A>G
NM_020778.5(ALPK3):c.3966-20G>A
NM_020778.5(ALPK3):c.3966-2A>T
NM_020778.5(ALPK3):c.3974A>T (p.Asp1325Val)
NM_020778.5(ALPK3):c.3980G>T (p.Gly1327Val)
NM_020778.5(ALPK3):c.3984G>A (p.Pro1328=) rs747599854
NM_020778.5(ALPK3):c.3984G>C (p.Pro1328=)
NM_020778.5(ALPK3):c.3984G>T (p.Pro1328=)
NM_020778.5(ALPK3):c.3987G>C (p.Ala1329=)
NM_020778.5(ALPK3):c.3997A>G (p.Ile1333Val)
NM_020778.5(ALPK3):c.4000G>A (p.Val1334Met)
NM_020778.5(ALPK3):c.4002G>A (p.Val1334=) rs2141570675
NM_020778.5(ALPK3):c.4006G>A (p.Ala1336Thr)
NM_020778.5(ALPK3):c.400C>G (p.Arg134Gly)
NM_020778.5(ALPK3):c.4012C>T (p.Pro1338Ser)
NM_020778.5(ALPK3):c.4014del (p.Pro1338_Val1339insTer) rs2141570684
NM_020778.5(ALPK3):c.4019A>G (p.Asp1340Gly)
NM_020778.5(ALPK3):c.4021T>C (p.Cys1341Arg)
NM_020778.5(ALPK3):c.4027G>C (p.Val1343Leu)
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
NM_020778.5(ALPK3):c.4038C>T (p.Cys1346=)
NM_020778.5(ALPK3):c.4044C>T (p.Ile1348=)
NM_020778.5(ALPK3):c.4049A>G (p.Asn1350Ser)
NM_020778.5(ALPK3):c.4051G>A (p.Glu1351Lys)
NM_020778.5(ALPK3):c.4052A>T (p.Glu1351Val)
NM_020778.5(ALPK3):c.4057G>C (p.Gly1353Arg)
NM_020778.5(ALPK3):c.4058G>A (p.Gly1353Asp) rs1963921424
NM_020778.5(ALPK3):c.4061C>G (p.Ser1354Trp)
NM_020778.5(ALPK3):c.4062G>A (p.Ser1354=)
NM_020778.5(ALPK3):c.4066T>C (p.Ser1356Pro)
NM_020778.5(ALPK3):c.4068C>T (p.Ser1356=)
NM_020778.5(ALPK3):c.406A>G (p.Thr136Ala)
NM_020778.5(ALPK3):c.4070C>G (p.Thr1357Ser) rs1064796135
NM_020778.5(ALPK3):c.4071C>A (p.Thr1357=)
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn)
NM_020778.5(ALPK3):c.4072G>T (p.Asp1358Tyr) rs780843840
NM_020778.5(ALPK3):c.4085G>A (p.Ser1362Asn)
NM_020778.5(ALPK3):c.4087C>G (p.Pro1363Ala)
NM_020778.5(ALPK3):c.4092G>T (p.Glu1364Asp) rs778715401
NM_020778.5(ALPK3):c.4093+11C>T rs1963922582
NM_020778.5(ALPK3):c.4093+16G>A
NM_020778.5(ALPK3):c.4093+17G>T
NM_020778.5(ALPK3):c.4093+1G>A
NM_020778.5(ALPK3):c.4093+2T>C
NM_020778.5(ALPK3):c.4093+3G>A
NM_020778.5(ALPK3):c.4093+4A>C
NM_020778.5(ALPK3):c.4093+5G>C
NM_020778.5(ALPK3):c.4093+7G>A
NM_020778.5(ALPK3):c.4093+7G>T
NM_020778.5(ALPK3):c.4093+9G>A
NM_020778.5(ALPK3):c.4094-19C>A
NM_020778.5(ALPK3):c.4102G>T (p.Gly1368Ter) rs2141570935
NM_020778.5(ALPK3):c.410T>G (p.Leu137Arg)
NM_020778.5(ALPK3):c.4121A>T (p.Glu1374Val)
NM_020778.5(ALPK3):c.4126G>A (p.Glu1376Lys)
NM_020778.5(ALPK3):c.4129+12C>T
NM_020778.5(ALPK3):c.4129+14dup rs766725481
NM_020778.5(ALPK3):c.4129+18G>T
NM_020778.5(ALPK3):c.4129+20A>G
NM_020778.5(ALPK3):c.4129+2T>C rs2141570949
NM_020778.5(ALPK3):c.4129+4T>C
NM_020778.5(ALPK3):c.4129+5G>T
NM_020778.5(ALPK3):c.4129+6G>A rs548491267
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953
NM_020778.5(ALPK3):c.4130-13T>A rs2141572504
NM_020778.5(ALPK3):c.4130-15C>T
NM_020778.5(ALPK3):c.4130T>C (p.Val1377Ala)
NM_020778.5(ALPK3):c.4138G>A (p.Glu1380Lys)
NM_020778.5(ALPK3):c.4146G>A (p.Glu1382=)
NM_020778.5(ALPK3):c.4154del (p.Pro1385fs) rs568699617
NM_020778.5(ALPK3):c.4159G>A (p.Val1387Met)
NM_020778.5(ALPK3):c.4167T>G (p.Ala1389=)
NM_020778.5(ALPK3):c.4169A>C (p.Lys1390Thr)
NM_020778.5(ALPK3):c.4183T>A (p.Ser1395Thr)
NM_020778.5(ALPK3):c.4188C>A (p.Gly1396=) rs550244353
NM_020778.5(ALPK3):c.4192T>G (p.Trp1398Gly)
NM_020778.5(ALPK3):c.4193G>A (p.Trp1398Ter)
NM_020778.5(ALPK3):c.4193G>C (p.Trp1398Ser)
NM_020778.5(ALPK3):c.4194G>C (p.Trp1398Cys)
NM_020778.5(ALPK3):c.4194G>T (p.Trp1398Cys) rs780428798
NM_020778.5(ALPK3):c.4204C>G (p.Leu1402Val) rs1357707595
NM_020778.5(ALPK3):c.4214G>A (p.Arg1405Gln)
NM_020778.5(ALPK3):c.4217T>C (p.Leu1406Pro) rs2141572615
NM_020778.5(ALPK3):c.422+15C>G rs1596149396
NM_020778.5(ALPK3):c.422+15C>T
NM_020778.5(ALPK3):c.422+18G>A
NM_020778.5(ALPK3):c.422+1G>A
NM_020778.5(ALPK3):c.422+5G>C rs2141555726
NM_020778.5(ALPK3):c.422+8A>G
NM_020778.5(ALPK3):c.4223G>A (p.Ser1408Asn) rs199741089
NM_020778.5(ALPK3):c.422G>A (p.Arg141Lys) rs772815322
NM_020778.5(ALPK3):c.423-15C>T rs747645826
NM_020778.5(ALPK3):c.423-19del rs537375112
NM_020778.5(ALPK3):c.423-2A>G
NM_020778.5(ALPK3):c.423-6C>A
NM_020778.5(ALPK3):c.423-8A>G
NM_020778.5(ALPK3):c.4230G>A (p.Glu1410=)
NM_020778.5(ALPK3):c.4230G>T (p.Glu1410Asp)
NM_020778.5(ALPK3):c.4235G>A (p.Arg1412Gln)
NM_020778.5(ALPK3):c.4235G>C (p.Arg1412Pro)
NM_020778.5(ALPK3):c.4235G>T (p.Arg1412Leu) rs769568552
NM_020778.5(ALPK3):c.4237G>C (p.Gly1413Arg)
NM_020778.5(ALPK3):c.423del rs1555434555
NM_020778.5(ALPK3):c.4241G>T (p.Gly1414Val)
NM_020778.5(ALPK3):c.4241del (p.Gly1414fs)
NM_020778.5(ALPK3):c.4245A>T (p.Gly1415=)
NM_020778.5(ALPK3):c.4247A>G (p.Tyr1416Cys)
NM_020778.5(ALPK3):c.424T>C (p.Cys142Arg) rs2141556124
NM_020778.5(ALPK3):c.4252T>C (p.Cys1418Arg)
NM_020778.5(ALPK3):c.4253G>A (p.Cys1418Tyr)
NM_020778.5(ALPK3):c.425G>T (p.Cys142Phe) rs2141556129
NM_020778.5(ALPK3):c.4261C>T (p.Arg1421Trp)
NM_020778.5(ALPK3):c.4262G>A (p.Arg1421Gln)
NM_020778.5(ALPK3):c.4262G>T (p.Arg1421Leu)
NM_020778.5(ALPK3):c.4267G>C (p.Ala1423Pro) rs750010018
NM_020778.5(ALPK3):c.4268C>T (p.Ala1423Val)
NM_020778.5(ALPK3):c.4271C>T (p.Ser1424Phe)
NM_020778.5(ALPK3):c.427_430del (p.Arg143fs)
NM_020778.5(ALPK3):c.4281G>A (p.Lys1427=) rs2141572697
NM_020778.5(ALPK3):c.4285A>T (p.Ile1429Phe)
NM_020778.5(ALPK3):c.428G>C (p.Arg143Pro)
NM_020778.5(ALPK3):c.4290C>G (p.Tyr1430Ter)
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg) rs750258262
NM_020778.5(ALPK3):c.4293G>A (p.Gly1431=)
NM_020778.5(ALPK3):c.4293G>T (p.Gly1431=) rs748265415
NM_020778.5(ALPK3):c.4313C>G (p.Ser1438Trp)
NM_020778.5(ALPK3):c.4313C>T (p.Ser1438Leu)
NM_020778.5(ALPK3):c.431A>G (p.Glu144Gly)
NM_020778.5(ALPK3):c.4322C>A (p.Thr1441Lys) rs141398841
NM_020778.5(ALPK3):c.4322C>T (p.Thr1441Met) rs141398841
NM_020778.5(ALPK3):c.4323G>A (p.Thr1441=)
NM_020778.5(ALPK3):c.4323G>T (p.Thr1441=) rs372396708
NM_020778.5(ALPK3):c.4328T>C (p.Ile1443Thr)
NM_020778.5(ALPK3):c.4332C>T (p.Ile1444=) rs2141572770
NM_020778.5(ALPK3):c.4336G>C (p.Val1446Leu)
NM_020778.5(ALPK3):c.4336G>T (p.Val1446Leu) rs1963963607
NM_020778.5(ALPK3):c.4338G>T (p.Val1446=) rs765857979
NM_020778.5(ALPK3):c.4343G>A (p.Ser1448Asn)
NM_020778.5(ALPK3):c.4344C>G (p.Ser1448Arg)
NM_020778.5(ALPK3):c.4347G>A (p.Leu1449=) rs1567095400
NM_020778.5(ALPK3):c.434A>T (p.Glu145Val) rs2141556144
NM_020778.5(ALPK3):c.4353_4354del (p.Phe1452fs)
NM_020778.5(ALPK3):c.4366A>C (p.Ser1456Arg)
NM_020778.5(ALPK3):c.4379T>C (p.Leu1460Pro)
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020778.5(ALPK3):c.4395C>T (p.Tyr1465=)
NM_020778.5(ALPK3):c.4396G>A (p.Asp1466Asn)
NM_020778.5(ALPK3):c.4399G>A (p.Val1467Ile)
NM_020778.5(ALPK3):c.439G>T (p.Ala147Ser)
NM_020778.5(ALPK3):c.4404C>T (p.Thr1468=)
NM_020778.5(ALPK3):c.4405A>G (p.Ile1469Val)
NM_020778.5(ALPK3):c.4406T>C (p.Ile1469Thr)
NM_020778.5(ALPK3):c.4410+11C>G
NM_020778.5(ALPK3):c.4410+1G>A rs1214281478
NM_020778.5(ALPK3):c.4410+2T>A rs2141572840
NM_020778.5(ALPK3):c.4410+6A>G
NM_020778.5(ALPK3):c.4410G>A (p.Gln1470=)
NM_020778.5(ALPK3):c.4411-14T>G
NM_020778.5(ALPK3):c.4411-9C>T
NM_020778.5(ALPK3):c.4411G>C (p.Gly1471Arg)
NM_020778.5(ALPK3):c.4415G>C (p.Cys1472Ser)
NM_020778.5(ALPK3):c.441C>T (p.Ala147=)
NM_020778.5(ALPK3):c.4422C>G (p.Ile1474Met)
NM_020778.5(ALPK3):c.4428C>T (p.Asn1476=)
NM_020778.5(ALPK3):c.4430T>C (p.Met1477Thr)
NM_020778.5(ALPK3):c.4455C>G (p.Phe1485Leu)
NM_020778.5(ALPK3):c.4455C>T (p.Phe1485=) rs549536913
NM_020778.5(ALPK3):c.4456G>T (p.Ala1486Ser) rs751953827
NM_020778.5(ALPK3):c.4461del (p.Glu1488fs)
NM_020778.5(ALPK3):c.4469G>C (p.Arg1490Pro)
NM_020778.5(ALPK3):c.446T>C (p.Ile149Thr)
NM_020778.5(ALPK3):c.4470G>A (p.Arg1490=) rs756294948
NM_020778.5(ALPK3):c.4473C>T (p.Ala1491=) rs780207576
NM_020778.5(ALPK3):c.4476G>A (p.Ala1492=)
NM_020778.5(ALPK3):c.448T>C (p.Tyr150His)
NM_020778.5(ALPK3):c.4493dup (p.Pro1499fs) rs2141573395
NM_020778.5(ALPK3):c.4496C>T (p.Pro1499Leu)
NM_020778.5(ALPK3):c.4497T>A (p.Pro1499=)
NM_020778.5(ALPK3):c.4498G>C (p.Glu1500Gln)
NM_020778.5(ALPK3):c.4499+12G>T
NM_020778.5(ALPK3):c.4499+13C>G
NM_020778.5(ALPK3):c.4499+13C>T
NM_020778.5(ALPK3):c.4499+14G>A
NM_020778.5(ALPK3):c.4499+17G>C
NM_020778.5(ALPK3):c.4499+1G>A
NM_020778.5(ALPK3):c.4499+20G>A rs1596158144
NM_020778.5(ALPK3):c.4499+5G>C rs1057523687
NM_020778.5(ALPK3):c.4499+9G>A
NM_020778.5(ALPK3):c.4499+9G>T
NM_020778.5(ALPK3):c.4500-12A>G
NM_020778.5(ALPK3):c.4500-14G>A
NM_020778.5(ALPK3):c.4500-16del rs548462883
NM_020778.5(ALPK3):c.4500-19A>G rs2141573951
NM_020778.5(ALPK3):c.4500-1G>C
NM_020778.5(ALPK3):c.4505T>C (p.Ile1502Thr)
NM_020778.5(ALPK3):c.4509A>T (p.Pro1503=)
NM_020778.5(ALPK3):c.4515T>G (p.Tyr1505Ter)
NM_020778.5(ALPK3):c.4520T>A (p.Ile1507Asn)
NM_020778.5(ALPK3):c.4523A>G (p.Tyr1508Cys) rs2141573980
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
NM_020778.5(ALPK3):c.4526G>A (p.Arg1509Gln)
NM_020778.5(ALPK3):c.4526G>C (p.Arg1509Pro)
NM_020778.5(ALPK3):c.4527G>A (p.Arg1509=) rs1662156183
NM_020778.5(ALPK3):c.4530T>C (p.Pro1510=)
NM_020778.5(ALPK3):c.4535A>G (p.Asn1512Ser) rs2141573998
NM_020778.5(ALPK3):c.4537A>T (p.Asn1513Tyr) rs2141574002
NM_020778.5(ALPK3):c.453G>A (p.Gln151=)
NM_020778.5(ALPK3):c.4548T>C (p.Tyr1516=) rs2141574011
NM_020778.5(ALPK3):c.4550C>T (p.Ala1517Val)
NM_020778.5(ALPK3):c.4552A>T (p.Thr1518Ser)
NM_020778.5(ALPK3):c.4554C>T (p.Thr1518=)
NM_020778.5(ALPK3):c.4560G>A (p.Glu1520=)
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs) rs2141574028
NM_020778.5(ALPK3):c.4570G>T (p.Gly1524Cys)
NM_020778.5(ALPK3):c.4577C>A (p.Pro1526His)
NM_020778.5(ALPK3):c.4577C>T (p.Pro1526Leu)
NM_020778.5(ALPK3):c.4578C>A (p.Pro1526=)
NM_020778.5(ALPK3):c.4581G>C (p.Leu1527=)
NM_020778.5(ALPK3):c.4586C>T (p.Ser1529Phe)
NM_020778.5(ALPK3):c.4595C>T (p.Ser1532Phe) rs747505947
NM_020778.5(ALPK3):c.4597C>T (p.Arg1533Trp)
NM_020778.5(ALPK3):c.4598G>A (p.Arg1533Gln)
NM_020778.5(ALPK3):c.4598G>T (p.Arg1533Leu) rs776664645
NM_020778.5(ALPK3):c.4599G>A (p.Arg1533=)
NM_020778.5(ALPK3):c.4601A>G (p.Glu1534Gly)
NM_020778.5(ALPK3):c.4604G>T (p.Trp1535Leu)
NM_020778.5(ALPK3):c.4610G>A (p.Cys1537Tyr)
NM_020778.5(ALPK3):c.4611T>C (p.Cys1537=)
NM_020778.5(ALPK3):c.4620T>C (p.Ala1540=)
NM_020778.5(ALPK3):c.4623G>A (p.Pro1541=)
NM_020778.5(ALPK3):c.4626A>G (p.Thr1542=) rs2141574121
NM_020778.5(ALPK3):c.4630T>C (p.Ser1544Pro)
NM_020778.5(ALPK3):c.463C>A (p.Gln155Lys)
NM_020778.5(ALPK3):c.463C>T (p.Gln155Ter)
NM_020778.5(ALPK3):c.4648A>G (p.Met1550Val)
NM_020778.5(ALPK3):c.4655A>C (p.Lys1552Thr) rs1237773925
NM_020778.5(ALPK3):c.4657T>G (p.Cys1553Gly)
NM_020778.5(ALPK3):c.4662G>A (p.Gln1554=)
NM_020778.5(ALPK3):c.4664C>A (p.Thr1555Asn)
NM_020778.5(ALPK3):c.4670A>G (p.Gln1557Arg) rs1225132252
NM_020778.5(ALPK3):c.4674C>T (p.His1558=)
NM_020778.5(ALPK3):c.4682A>G (p.Tyr1561Cys)
NM_020778.5(ALPK3):c.4687T>A (p.Trp1563Arg)
NM_020778.5(ALPK3):c.4687T>C (p.Trp1563Arg)
NM_020778.5(ALPK3):c.4701C>T (p.Ser1567=)
NM_020778.5(ALPK3):c.4722A>G (p.Ala1574=) rs2141574193
NM_020778.5(ALPK3):c.4723+14A>G rs1963984739
NM_020778.5(ALPK3):c.4723+16G>A rs1299509017
NM_020778.5(ALPK3):c.4723+17G>A
NM_020778.5(ALPK3):c.4723+19G>A
NM_020778.5(ALPK3):c.4723+4C>T rs560395563
NM_020778.5(ALPK3):c.4723+8G>A
NM_020778.5(ALPK3):c.4724-13T>C
NM_020778.5(ALPK3):c.4724-16C>A
NM_020778.5(ALPK3):c.4724-17A>G
NM_020778.5(ALPK3):c.4724-19C>G
NM_020778.5(ALPK3):c.4724-1G>A rs1403144024
NM_020778.5(ALPK3):c.4724-203_4724-201del rs148614333
NM_020778.5(ALPK3):c.4724-2A>G rs2141575644
NM_020778.5(ALPK3):c.4729G>T (p.Asp1577Tyr)
NM_020778.5(ALPK3):c.4731C>A (p.Asp1577Glu)
NM_020778.5(ALPK3):c.4738A>C (p.Met1580Leu) rs2141575659
NM_020778.5(ALPK3):c.4744G>A (p.Asp1582Asn)
NM_020778.5(ALPK3):c.4753A>T (p.Ile1585Phe) rs2141575665
NM_020778.5(ALPK3):c.475G>A (p.Gly159Ser)
NM_020778.5(ALPK3):c.4772+1G>T
NM_020778.5(ALPK3):c.4772+20A>C
NM_020778.5(ALPK3):c.4772G>C (p.Gly1591Ala)
NM_020778.5(ALPK3):c.4773-11del
NM_020778.5(ALPK3):c.4773-13T>A
NM_020778.5(ALPK3):c.4773-16T>G
NM_020778.5(ALPK3):c.4773-4G>A
NM_020778.5(ALPK3):c.4776C>G (p.Tyr1592Ter)
NM_020778.5(ALPK3):c.4787_4796del (p.Lys1596fs)
NM_020778.5(ALPK3):c.478A>G (p.Ile160Val)
NM_020778.5(ALPK3):c.4792A>G (p.Ser1598Gly)
NM_020778.5(ALPK3):c.4794del (p.Cys1599fs) rs2141576118
NM_020778.5(ALPK3):c.4797C>T (p.Cys1599=)
NM_020778.5(ALPK3):c.4804G>C (p.Ala1602Pro)
NM_020778.5(ALPK3):c.4816C>G (p.Arg1606Gly) rs769796609
NM_020778.5(ALPK3):c.4816C>T (p.Arg1606Trp) rs769796609
NM_020778.5(ALPK3):c.4817G>C (p.Arg1606Pro)
NM_020778.5(ALPK3):c.4821C>T (p.Phe1607=)
NM_020778.5(ALPK3):c.4828T>C (p.Ser1610Pro)
NM_020778.5(ALPK3):c.4832A>C (p.His1611Pro)
NM_020778.5(ALPK3):c.4833C>T (p.His1611=) rs1419643960
NM_020778.5(ALPK3):c.483G>C (p.Val161=)
NM_020778.5(ALPK3):c.4841A>G (p.Asn1614Ser)
NM_020778.5(ALPK3):c.4841A>T (p.Asn1614Ile) rs369329091
NM_020778.5(ALPK3):c.4841_4847dup (p.Tyr1616Ter) rs2141576147
NM_020778.5(ALPK3):c.4855C>T (p.Leu1619=)
NM_020778.5(ALPK3):c.4862G>A (p.Gly1621Glu)
NM_020778.5(ALPK3):c.4863dup (p.Leu1622fs) rs1555436332
NM_020778.5(ALPK3):c.4870C>T (p.Pro1624Ser)
NM_020778.5(ALPK3):c.4875C>T (p.Leu1625=)
NM_020778.5(ALPK3):c.4882C>T (p.Pro1628Ser)
NM_020778.5(ALPK3):c.4884G>A (p.Pro1628=)
NM_020778.5(ALPK3):c.4884G>C (p.Pro1628=)
NM_020778.5(ALPK3):c.4896C>A (p.His1632Gln) rs1387694108
NM_020778.5(ALPK3):c.4896C>T (p.His1632=) rs1387694108
NM_020778.5(ALPK3):c.4899C>A (p.Pro1633=)
NM_020778.5(ALPK3):c.4899C>T (p.Pro1633=) rs143514559
NM_020778.5(ALPK3):c.4905C>G (p.Ala1635=) rs2141576224
NM_020778.5(ALPK3):c.4915G>C (p.Gly1639Arg) rs773881733
NM_020778.5(ALPK3):c.491C>T (p.Ser164Leu) rs1963635371
NM_020778.5(ALPK3):c.4921A>C (p.Lys1641Gln) rs1596159542
NM_020778.5(ALPK3):c.4931C>T (p.Ser1644Phe)
NM_020778.5(ALPK3):c.4933G>A (p.Ala1645Thr) rs1964024754
NM_020778.5(ALPK3):c.4948T>C (p.Ser1650Pro)
NM_020778.5(ALPK3):c.4954C>A (p.Leu1652Met) rs139738663
NM_020778.5(ALPK3):c.4954C>T (p.Leu1652=) rs139738663
NM_020778.5(ALPK3):c.496_509del (p.Val166fs) rs1466450842
NM_020778.5(ALPK3):c.4974G>A (p.Lys1658=)
NM_020778.5(ALPK3):c.4979G>A (p.Gly1660Asp) rs1064796120
NM_020778.5(ALPK3):c.498C>T (p.Val166=)
NM_020778.5(ALPK3):c.4993C>T (p.Gln1665Ter)
NM_020778.5(ALPK3):c.5000C>T (p.Thr1667Ile)
NM_020778.5(ALPK3):c.5007G>A (p.Lys1669=)
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
NM_020778.5(ALPK3):c.5014C>T (p.Pro1672Ser)
NM_020778.5(ALPK3):c.5015C>T (p.Pro1672Leu)
NM_020778.5(ALPK3):c.5022C>T (p.Ser1674=)
NM_020778.5(ALPK3):c.5024A>G (p.Lys1675Arg)
NM_020778.5(ALPK3):c.5027C>T (p.Ala1676Val) rs150250443
NM_020778.5(ALPK3):c.5028C>T (p.Ala1676=)
NM_020778.5(ALPK3):c.5034T>G (p.Pro1678=)
NM_020778.5(ALPK3):c.5035C>T (p.Gln1679Ter)
NM_020778.5(ALPK3):c.5042C>T (p.Ser1681Leu)
NM_020778.5(ALPK3):c.5057C>G (p.Thr1686Ser) rs757392253
NM_020778.5(ALPK3):c.5060A>T (p.Gln1687Leu)
NM_020778.5(ALPK3):c.5065T>G (p.Leu1689Val)
NM_020778.5(ALPK3):c.5073_5077del (p.Gln1691fs)
NM_020778.5(ALPK3):c.5075C>G (p.Pro1692Arg)
NM_020778.5(ALPK3):c.5080A>G (p.Thr1694Ala)
NM_020778.5(ALPK3):c.5082C>G (p.Thr1694=)
NM_020778.5(ALPK3):c.5088G>A (p.Glu1696=)
NM_020778.5(ALPK3):c.5089G>A (p.Glu1697Lys) rs2141576412
NM_020778.5(ALPK3):c.50C>T (p.Ser17Leu)
NM_020778.5(ALPK3):c.5104C>T (p.Gln1702Ter)
NM_020778.5(ALPK3):c.510C>T (p.Gly170=)
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?) rs753251432
NM_020778.5(ALPK3):c.518C>T (p.Thr173Ile) rs2141556205
NM_020778.5(ALPK3):c.524A>C (p.Tyr175Ser)
NM_020778.5(ALPK3):c.524A>G (p.Tyr175Cys) rs753599829
NM_020778.5(ALPK3):c.525C>G (p.Tyr175Ter)
NM_020778.5(ALPK3):c.528del (p.Ile177fs) rs1064796122
NM_020778.5(ALPK3):c.540C>A (p.Arg180=)
NM_020778.5(ALPK3):c.542G>C (p.Trp181Ser) rs1442088577
NM_020778.5(ALPK3):c.552G>A (p.Lys184=)
NM_020778.5(ALPK3):c.554T>C (p.Leu185Ser)
NM_020778.5(ALPK3):c.555G>A (p.Leu185=)
NM_020778.5(ALPK3):c.556A>G (p.Lys186Glu) rs2141556244
NM_020778.5(ALPK3):c.55del (p.Ala19fs)
NM_020778.5(ALPK3):c.55dup (p.Ala19fs)
NM_020778.5(ALPK3):c.560G>A (p.Arg187His)
NM_020778.5(ALPK3):c.563A>G (p.Lys188Arg)
NM_020778.5(ALPK3):c.566_572delinsGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Ala189_Ala191delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLys)
NM_020778.5(ALPK3):c.569C>G (p.Ala190Gly) rs751010387
NM_020778.5(ALPK3):c.570G>A (p.Ala190=)
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs) rs2141556264
NM_020778.5(ALPK3):c.572_573insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAACTGCGGC (p.Lys192fs)
NM_020778.5(ALPK3):c.576G>T (p.Lys192Asn)
NM_020778.5(ALPK3):c.578T>G (p.Leu193Arg)
NM_020778.5(ALPK3):c.580C>T (p.Arg194Cys)
NM_020778.5(ALPK3):c.583G>A (p.Glu195Lys)
NM_020778.5(ALPK3):c.585G>A (p.Glu195=)
NM_020778.5(ALPK3):c.588C>G (p.Ile196Met) rs1165843264
NM_020778.5(ALPK3):c.589G>T (p.Glu197Ter) rs1418106287
NM_020778.5(ALPK3):c.594G>C (p.Gln198His) rs1596149684
NM_020778.5(ALPK3):c.598T>C (p.Trp200Arg)
NM_020778.5(ALPK3):c.5G>A (p.Gly2Glu)
NM_020778.5(ALPK3):c.605A>C (p.His202Pro) rs761936926
NM_020778.5(ALPK3):c.605A>G (p.His202Arg) rs761936926
NM_020778.5(ALPK3):c.606C>G (p.His202Gln)
NM_020778.5(ALPK3):c.607G>A (p.Glu203Lys)
NM_020778.5(ALPK3):c.607G>C (p.Glu203Gln) rs765142581
NM_020778.5(ALPK3):c.607G>T (p.Glu203Ter)
NM_020778.5(ALPK3):c.61G>T (p.Gly21Cys) rs1186307775
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
NM_020778.5(ALPK3):c.624G>A (p.Gly208=)
NM_020778.5(ALPK3):c.624G>C (p.Gly208=) rs145003820
NM_020778.5(ALPK3):c.624G>T (p.Gly208=)
NM_020778.5(ALPK3):c.626A>T (p.Glu209Val)
NM_020778.5(ALPK3):c.630C>G (p.Val210=) rs755716847
NM_020778.5(ALPK3):c.630C>T (p.Val210=) rs755716847
NM_020778.5(ALPK3):c.634A>G (p.Thr212Ala)
NM_020778.5(ALPK3):c.634del (p.Thr212fs) rs2141556375
NM_020778.5(ALPK3):c.635C>A (p.Thr212Asn)
NM_020778.5(ALPK3):c.640C>A (p.Arg214Ser)
NM_020778.5(ALPK3):c.645G>A (p.Lys215=)
NM_020778.5(ALPK3):c.650G>A (p.Ser217Asn)
NM_020778.5(ALPK3):c.652C>T (p.Pro218Ser)
NM_020778.5(ALPK3):c.655G>T (p.Asp219Tyr) rs148244525
NM_020778.5(ALPK3):c.658C>G (p.Arg220Gly)
NM_020778.5(ALPK3):c.658C>T (p.Arg220Cys)
NM_020778.5(ALPK3):c.664C>T (p.Gln222Ter) rs2141556442
NM_020778.5(ALPK3):c.667C>T (p.Arg223Ter)
NM_020778.5(ALPK3):c.669A>T (p.Arg223=)
NM_020778.5(ALPK3):c.66C>T (p.Asp22=)
NM_020778.5(ALPK3):c.673C>T (p.Arg225Trp) rs2141556445
NM_020778.5(ALPK3):c.675G>A (p.Arg225=)
NM_020778.5(ALPK3):c.676C>A (p.Arg226=)
NM_020778.5(ALPK3):c.676C>T (p.Arg226Ter) rs749836697
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter) rs2141556463
NM_020778.5(ALPK3):c.681G>A (p.Leu227=)
NM_020778.5(ALPK3):c.682_696del (p.Ser228_Ala232del)
NM_020778.5(ALPK3):c.685G>A (p.Gly229Arg)
NM_020778.5(ALPK3):c.688G>A (p.Ala230Thr)
NM_020778.5(ALPK3):c.688_709del (p.Ala230fs)
NM_020778.5(ALPK3):c.688dup (p.Ala230fs)
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)
NM_020778.5(ALPK3):c.692A>G (p.Gln231Arg) rs964593614
NM_020778.5(ALPK3):c.69_80del (p.Glu24_Gly27del) rs1163387390
NM_020778.5(ALPK3):c.6G>A (p.Gly2=) rs1963372727
NM_020778.5(ALPK3):c.701G>T (p.Gly234Val) rs1278708077
NM_020778.5(ALPK3):c.705del (p.Ser236fs)
NM_020778.5(ALPK3):c.707C>G (p.Ser236Trp)
NM_020778.5(ALPK3):c.707C>T (p.Ser236Leu)
NM_020778.5(ALPK3):c.708G>C (p.Ser236=)
NM_020778.5(ALPK3):c.709G>T (p.Val237Phe)
NM_020778.5(ALPK3):c.71A>G (p.Glu24Gly) rs1963374337
NM_020778.5(ALPK3):c.721dup (p.Glu241fs) rs2141556552
NM_020778.5(ALPK3):c.722A>C (p.Glu241Ala)
NM_020778.5(ALPK3):c.723G>T (p.Glu241Asp)
NM_020778.5(ALPK3):c.724C>A (p.Pro242Thr) rs2141556560
NM_020778.5(ALPK3):c.724C>G (p.Pro242Ala) rs2141556560
NM_020778.5(ALPK3):c.725C>T (p.Pro242Leu)
NM_020778.5(ALPK3):c.734G>A (p.Gly245Glu)
NM_020778.5(ALPK3):c.741G>A (p.Leu247=)
NM_020778.5(ALPK3):c.744G>A (p.Ala248=) rs1963641415
NM_020778.5(ALPK3):c.744G>C (p.Ala248=)
NM_020778.5(ALPK3):c.755A>T (p.Glu252Val)
NM_020778.5(ALPK3):c.757G>A (p.Gly253Arg)
NM_020778.5(ALPK3):c.757G>C (p.Gly253Arg)
NM_020778.5(ALPK3):c.75C>T (p.Asp25=)
NM_020778.5(ALPK3):c.762_763del (p.Glu254fs) rs2141556595
NM_020778.5(ALPK3):c.786T>C (p.Gly262=)
NM_020778.5(ALPK3):c.786T>G (p.Gly262=)
NM_020778.5(ALPK3):c.825C>T (p.Thr275=)
NM_020778.5(ALPK3):c.826A>G (p.Thr276Ala) rs764928810
NM_020778.5(ALPK3):c.82C>T (p.Pro28Ser)
NM_020778.5(ALPK3):c.832G>C (p.Gly278Arg)
NM_020778.5(ALPK3):c.842_843insT (p.Glu283fs)
NM_020778.5(ALPK3):c.844C>G (p.Pro282Ala)
NM_020778.5(ALPK3):c.845C>A (p.Pro282His)
NM_020778.5(ALPK3):c.847G>A (p.Glu283Lys)
NM_020778.5(ALPK3):c.852T>C (p.Asn284=)
NM_020778.5(ALPK3):c.858_893del (p.Glu286_Cys297del)
NM_020778.5(ALPK3):c.862G>C (p.Gly288Arg) rs909876510
NM_020778.5(ALPK3):c.869A>C (p.His290Pro)
NM_020778.5(ALPK3):c.876G>T (p.Leu292Phe) rs1963643413
NM_020778.5(ALPK3):c.87G>A (p.Val29=)
NM_020778.5(ALPK3):c.880A>G (p.Thr294Ala) rs941631732
NM_020778.5(ALPK3):c.881C>T (p.Thr294Ile)
NM_020778.5(ALPK3):c.882A>G (p.Thr294=) rs542316430
NM_020778.5(ALPK3):c.884dup (p.Tyr295Ter)
NM_020778.5(ALPK3):c.886A>G (p.Ile296Val)
NM_020778.5(ALPK3):c.892G>T (p.Asp298Tyr)
NM_020778.5(ALPK3):c.893A>G (p.Asp298Gly)
NM_020778.5(ALPK3):c.894C>T (p.Asp298=)
NM_020778.5(ALPK3):c.896C>A (p.Ala299Asp)
NM_020778.5(ALPK3):c.896C>T (p.Ala299Val)
NM_020778.5(ALPK3):c.898A>G (p.Met300Val)
NM_020778.5(ALPK3):c.89G>C (p.Trp30Ser)
NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)
NM_020778.5(ALPK3):c.914A>T (p.Gln305Leu)
NM_020778.5(ALPK3):c.917G>A (p.Arg306Lys) rs2141556751
NM_020778.5(ALPK3):c.919G>C (p.Ala307Pro)
NM_020778.5(ALPK3):c.930G>C (p.Glu310Asp)
NM_020778.5(ALPK3):c.939G>A (p.Gly313=)
NM_020778.5(ALPK3):c.93C>T (p.Ile31=)
NM_020778.5(ALPK3):c.957A>G (p.Lys319=)
NM_020778.5(ALPK3):c.958G>T (p.Asp320Tyr)
NM_020778.5(ALPK3):c.959A>G (p.Asp320Gly)
NM_020778.5(ALPK3):c.965A>T (p.Glu322Val)
NM_020778.5(ALPK3):c.973_976dup (p.Gly326fs)
NM_020778.5(ALPK3):c.976G>A (p.Gly326Ser)
NM_020778.5(ALPK3):c.980T>C (p.Leu327Pro)
NM_020778.5(ALPK3):c.987G>C (p.Lys329Asn)
NM_020778.5(ALPK3):c.98G>A (p.Ser33Asn)
NM_020778.5(ALPK3):c.991G>A (p.Glu331Lys) rs1366856276
NM_020778.5(ALPK3):c.994T>G (p.Leu332Val)
NM_020778.5(ALPK3):c.996A>G (p.Leu332=)

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