ClinVar Miner

List of variants in gene ALPK3 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1354
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HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg) rs115074675 0.00056
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00046
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu) rs148547083 0.00038
NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp) rs115364627 0.00034
NM_020778.5(ALPK3):c.5114G>A (p.Arg1705Gln) rs116585466 0.00032
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.4387A>G (p.Arg1463Gly) rs147450988 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.1207C>T (p.Pro403Ser) rs761234447 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.4081C>T (p.Leu1361Phe) rs780101092 0.00016
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe) rs1012634268 0.00016
NC_000015.10:g.84817000C>T rs373853510 0.00015
NC_000015.10:g.84817220C>T 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.712C>T (p.Pro238Ser) rs138094037 0.00014
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
NC_000015.10:g.84817249G>C rs1307711783 0.00012
NM_020778.5(ALPK3):c.3704C>T (p.Ala1235Val) rs200282192 0.00012
NM_020778.5(ALPK3):c.3818-3C>T rs758948501 0.00012
NM_020778.5(ALPK3):c.1036A>C (p.Ile346Leu) rs201336763 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.62G>T (p.Gly21Val) rs1415475314 0.00011
NC_000015.10:g.84817333A>G rs1008637055 0.00010
NM_020778.5(ALPK3):c.221A>C (p.Glu74Ala) rs533505673 0.00010
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.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.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.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.5002C>T (p.Arg1668Trp) rs148009523 0.00007
NM_020778.5(ALPK3):c.698C>T (p.Pro233Leu) rs150785783 0.00007
NC_000015.10:g.84817147G>A rs868375261 0.00006
NC_000015.10:g.84817286G>A rs572969717 0.00006
NM_020778.5(ALPK3):c.133C>T (p.Pro45Ser) rs941969303 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.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
NC_000015.10:g.84817072G>A 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.4033C>T (p.Arg1345Trp) rs748989211 0.00005
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn) rs116112514 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.84817148G>A rs774834870 0.00004
NC_000015.10:g.84817261C>G rs992295669 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.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.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.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.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.40G>T (p.Gly14Cys) rs1053607919 0.00004
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu) rs372818428 0.00004
NM_020778.5(ALPK3):c.4319G>A (p.Arg1440His) rs182140062 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.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.595A>G (p.Ser199Gly) rs780267653 0.00004
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn) rs148244525 0.00004
NC_000015.10:g.84817160C>T rs1280728775 0.00003
NM_020778.5(ALPK3):c.1279A>T (p.Arg427Trp) rs771706498 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.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.3940C>T (p.Arg1314Cys) rs147819987 0.00003
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His) rs746125587 0.00003
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=) rs773522765 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.4910C>G (p.Ala1637Gly) rs769409719 0.00003
NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter) rs1338612539 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.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.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.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.2810C>T (p.Ala937Val) rs1021527527 0.00002
NM_020778.5(ALPK3):c.2848C>T (p.Arg950Trp) rs762163130 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.3412T>C (p.Ser1138Pro) rs1213169185 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.3733G>A (p.Gly1245Ser) rs773569562 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.4096T>A (p.Leu1366Met) rs777438509 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.5108G>A (p.Gly1703Asp) rs1239606869 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.84816986C>A rs1369786736 0.00001
NC_000015.10:g.84816992A>T rs371628844 0.00001
NC_000015.10:g.84817141C>T rs1029763180 0.00001
NC_000015.10:g.84817199G>A rs760781429 0.00001
NC_000015.10:g.84817253C>G rs1249463407 0.00001
NM_020778.4(ALPK3):c.173C>T (p.Pro58Leu) rs1057523682 0.00001
NM_020778.5(ALPK3):c.-14G>A rs1194445562 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.1172C>T (p.Ser391Phe) rs768234276 0.00001
NM_020778.5(ALPK3):c.1183A>G (p.Thr395Ala) rs1285409508 0.00001
NM_020778.5(ALPK3):c.1286T>C (p.Leu429Pro) rs115200412 0.00001
NM_020778.5(ALPK3):c.137A>G (p.Glu46Gly) rs775198429 0.00001
NM_020778.5(ALPK3):c.1403A>T (p.His468Leu) rs202163284 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.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.2134T>G (p.Ser712Ala) rs571389749 0.00001
NM_020778.5(ALPK3):c.2147C>T (p.Ala716Val) rs779674365 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.2426G>A (p.Ser809Asn) rs1220203156 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.2571_2573del (p.Ala858del) rs1963876658 0.00001
NM_020778.5(ALPK3):c.2600T>A (p.Met867Lys) rs376587216 0.00001
NM_020778.5(ALPK3):c.2657C>T (p.Thr886Ile) rs1275702908 0.00001
NM_020778.5(ALPK3):c.26G>A (p.Arg9Gln) rs759651543 0.00001
NM_020778.5(ALPK3):c.2738A>C (p.His913Pro) rs1171103742 0.00001
NM_020778.5(ALPK3):c.2798A>T (p.Glu933Val) rs758445691 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.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.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.331T>C (p.Tyr111His) rs1040012286 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.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.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.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.3824A>G (p.Gln1275Arg) rs1390037202 0.00001
NM_020778.5(ALPK3):c.3841C>T (p.Arg1281Trp) rs370816513 0.00001
NM_020778.5(ALPK3):c.3863C>T (p.Ala1288Val) rs761697260 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.4034G>A (p.Arg1345Gln) rs768456090 0.00001
NM_020778.5(ALPK3):c.4165G>A (p.Ala1389Thr) rs765113565 0.00001
NM_020778.5(ALPK3):c.4174C>G (p.Leu1392Val) rs771958254 0.00001
NM_020778.5(ALPK3):c.4193G>T (p.Trp1398Leu) rs756411505 0.00001
NM_020778.5(ALPK3):c.4214G>T (p.Arg1405Leu) rs369709289 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.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.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.461C>T (p.Ala154Val) rs913849174 0.00001
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu) rs767340370 0.00001
NM_020778.5(ALPK3):c.4769G>A (p.Arg1590Gln) rs1432141737 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.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.581G>A (p.Arg194His) rs1459767585 0.00001
NM_020778.5(ALPK3):c.59G>A (p.Gly20Glu) rs1403282196 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.827C>G (p.Thr276Ser) rs1963642557 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
NC_000015.10:g.84816850G>A
NC_000015.10:g.84816861G>T
NC_000015.10:g.84816870_84816871delinsCC
NC_000015.10:g.84816881A>G
NC_000015.10:g.84816883C>T
NC_000015.10:g.84816892G>A
NC_000015.10:g.84816917G>A
NC_000015.10:g.84816917G>C
NC_000015.10:g.84816922G>A
NC_000015.10:g.84816925C>T
NC_000015.10:g.84816926C>G
NC_000015.10:g.84816937C>G rs1963362942
NC_000015.10:g.84816958C>A
NC_000015.10:g.84816962C>T rs1189001595
NC_000015.10:g.84816965G>A
NC_000015.10:g.84816965G>C
NC_000015.10:g.84816965G>T
NC_000015.10:g.84816972C>G
NC_000015.10:g.84816976A>G
NC_000015.10:g.84816982C>G rs1470660128
NC_000015.10:g.84816983C>T
NC_000015.10:g.84816983_84816988del
NC_000015.10:g.84816989T>C
NC_000015.10:g.84817001C>T
NC_000015.10:g.84817003C>G
NC_000015.10:g.84817010C>A
NC_000015.10:g.84817010C>T
NC_000015.10:g.84817018C>T
NC_000015.10:g.84817022G>T
NC_000015.10:g.84817027C>A
NC_000015.10:g.84817030C>T
NC_000015.10:g.84817043C>G
NC_000015.10:g.84817043C>T
NC_000015.10:g.84817045G>A
NC_000015.10:g.84817045G>C rs767754656
NC_000015.10:g.84817049A>G
NC_000015.10:g.84817051G>A
NC_000015.10:g.84817051G>C
NC_000015.10:g.84817054C>A
NC_000015.10:g.84817058C>A
NC_000015.10:g.84817058C>T
NC_000015.10:g.84817064G>A
NC_000015.10:g.84817066G>A
NC_000015.10:g.84817069C>G
NC_000015.10:g.84817069C>T
NC_000015.10:g.84817070C>T
NC_000015.10:g.84817072G>C rs758170095
NC_000015.10:g.84817075C>T
NC_000015.10:g.84817082G>C rs2141541689
NC_000015.10:g.84817096C>T
NC_000015.10:g.84817103T>G rs369860557
NC_000015.10:g.84817108G>A rs2141541718
NC_000015.10:g.84817109A>T rs2141541721
NC_000015.10:g.84817110C>G
NC_000015.10:g.84817112A>G
NC_000015.10:g.84817120C>G
NC_000015.10:g.84817121G>T rs779706830
NC_000015.10:g.84817132C>T rs2141541757
NC_000015.10:g.84817136C>G
NC_000015.10:g.84817139G>A
NC_000015.10:g.84817142C>T
NC_000015.10:g.84817144C>A
NC_000015.10:g.84817145C>G
NC_000015.10:g.84817147_84817156del rs1963367421
NC_000015.10:g.84817163G>A
NC_000015.10:g.84817163G>T
NC_000015.10:g.84817171T>C
NC_000015.10:g.84817171T>G
NC_000015.10:g.84817172G>C
NC_000015.10:g.84817180C>T
NC_000015.10:g.84817183G>A rs2141541816
NC_000015.10:g.84817186C>T
NC_000015.10:g.84817199G>C
NC_000015.10:g.84817201C>A
NC_000015.10:g.84817204G>A
NC_000015.10:g.84817205G>A
NC_000015.10:g.84817205G>C
NC_000015.10:g.84817207G>A
NC_000015.10:g.84817210G>A
NC_000015.10:g.84817210G>C
NC_000015.10:g.84817211G>A
NC_000015.10:g.84817216G>T
NC_000015.10:g.84817228T>C rs1425093369
NC_000015.10:g.84817232C>T
NC_000015.10:g.84817235C>A
NC_000015.10:g.84817237G>T
NC_000015.10:g.84817240C>T
NC_000015.10:g.84817241C>T
NC_000015.10:g.84817244C>T
NC_000015.10:g.84817246G>C
NC_000015.10:g.84817253C>T
NC_000015.10:g.84817258C>T
NC_000015.10:g.84817261C>T
NC_000015.10:g.84817265G>C
NC_000015.10:g.84817268C>G
NC_000015.10:g.84817271G>A
NC_000015.10:g.84817271del rs2141541923
NC_000015.10:g.84817273C>T
NC_000015.10:g.84817277C>T
NC_000015.10:g.84817283C>G
NC_000015.10:g.84817283C>T
NC_000015.10:g.84817285G>C
NC_000015.10:g.84817288G>A
NC_000015.10:g.84817301del rs2141541974
NC_000015.10:g.84817303G>A
NC_000015.10:g.84817316G>A
NC_000015.10:g.84817318C>T
NC_000015.10:g.84817330A>C rs2141541996
NC_000015.10:g.84817335G>C
NC_000015.10:g.84817339G>A
NC_000015.10:g.84817343G>A
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_?)dup
NC_000015.9:g.(?_85382191)_(85411687_?)dup
NC_000015.9:g.(?_85408956)_(85411660_?)del
NM_020778.4(ALPK3):c.10_14GCTTG[3] (p.Val7Glyfs)
NM_020778.4(ALPK3):c.153_161dup (p.Pro55_Ala56insLeuAlaPro)
NM_020778.4(ALPK3):c.290dup (p.Arg98Glufs)
NM_020778.4(ALPK3):c.352G>A (p.Gly118Arg)
NM_020778.4(ALPK3):c.399delC (p.Gly134Alafs)
NM_020778.4(ALPK3):c.399dup (p.Gly134Argfs) rs769496975
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020778.4(ALPK3):c.473_485dup (p.Arg163Thrfs)
NM_020778.4(ALPK3):c.83delG (p.Gly28Glufs)
NM_020778.5(ALPK3):c.-10G>T rs1057523686
NM_020778.5(ALPK3):c.-14G>T
NM_020778.5(ALPK3):c.-15G>A
NM_020778.5(ALPK3):c.-24C>A
NM_020778.5(ALPK3):c.-29C>G
NM_020778.5(ALPK3):c.-32G>C
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.-56_-55delinsCT
NM_020778.5(ALPK3):c.-57T>C
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.-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.-84G>A
NM_020778.5(ALPK3):c.-8G>A rs2141542128
NM_020778.5(ALPK3):c.-90G>A
NM_020778.5(ALPK3):c.-94_-92dup rs2141542019
NM_020778.5(ALPK3):c.1001A>C (p.Lys334Thr)
NM_020778.5(ALPK3):c.1003G>T (p.Ala335Ser)
NM_020778.5(ALPK3):c.1007C>A (p.Ala336Asp)
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.1016G>T (p.Arg339Leu)
NM_020778.5(ALPK3):c.1024T>C (p.Ser342Pro)
NM_020778.5(ALPK3):c.1032C>G (p.Asn344Lys)
NM_020778.5(ALPK3):c.1043G>A (p.Ser348Asn) rs2141556874
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.1061C>T (p.Ser354Phe)
NM_020778.5(ALPK3):c.1064G>T (p.Cys355Phe)
NM_020778.5(ALPK3):c.107G>A (p.Ser36Asn)
NM_020778.5(ALPK3):c.1082T>A (p.Val361Glu) rs2141556916
NM_020778.5(ALPK3):c.1082T>C (p.Val361Ala)
NM_020778.5(ALPK3):c.1093C>A (p.Gln365Lys)
NM_020778.5(ALPK3):c.1096G>T (p.Val366Phe)
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.1126C>G (p.Arg376Gly)
NM_020778.5(ALPK3):c.1127G>A (p.Arg376Gln) rs755210023
NM_020778.5(ALPK3):c.1130_1131delinsAC (p.Gly377Asp)
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.1141T>G (p.Ser381Ala)
NM_020778.5(ALPK3):c.1142C>G (p.Ser381Cys)
NM_020778.5(ALPK3):c.1163A>T (p.Lys388Met)
NM_020778.5(ALPK3):c.1168G>A (p.Ala390Thr)
NM_020778.5(ALPK3):c.116A>G (p.Tyr39Cys)
NM_020778.5(ALPK3):c.1174G>A (p.Ala392Thr)
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.1202A>C (p.Lys401Thr)
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.1217G>C (p.Gly406Ala)
NM_020778.5(ALPK3):c.1223G>A (p.Gly408Asp)
NM_020778.5(ALPK3):c.1223G>C (p.Gly408Ala)
NM_020778.5(ALPK3):c.1226A>C (p.Gln409Pro)
NM_020778.5(ALPK3):c.1226A>T (p.Gln409Leu) rs765187060
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.1241C>T (p.Ser414Phe)
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.127G>A (p.Val43Met)
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.1296G>C (p.Glu432Asp)
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.1318C>T (p.Arg440Trp)
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.1322C>T (p.Ala441Val)
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.1360G>T (p.Ala454Ser) rs2141557145
NM_020778.5(ALPK3):c.1363A>G (p.Arg455Gly)
NM_020778.5(ALPK3):c.1367G>A (p.Ser456Asn)
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.1373G>A (p.Gly458Glu)
NM_020778.5(ALPK3):c.1375G>A (p.Val459Met)
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.1396C>T (p.Pro466Ser)
NM_020778.5(ALPK3):c.1397C>T (p.Pro466Leu)
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.1421_1422insCACACACTCCTTGACCCTCCAGCC (p.Thr475_Arg476insHisSerLeuThrLeuGlnProThr)
NM_020778.5(ALPK3):c.143+6T>C
NM_020778.5(ALPK3):c.1433T>A (p.Phe478Tyr)
NM_020778.5(ALPK3):c.1436A>G (p.Asn479Ser)
NM_020778.5(ALPK3):c.1443G>T (p.Lys481Asn)
NM_020778.5(ALPK3):c.1454C>T (p.Pro485Leu)
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.148T>G (p.Ser50Ala)
NM_020778.5(ALPK3):c.155A>C (p.Asn52Thr) rs1057518517
NM_020778.5(ALPK3):c.157C>A (p.Arg53=)
NM_020778.5(ALPK3):c.157C>T (p.Arg53Trp)
NM_020778.5(ALPK3):c.1654G>A (p.Val552Ile)
NM_020778.5(ALPK3):c.1655T>C (p.Val552Ala)
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser)
NM_020778.5(ALPK3):c.1678G>A (p.Ala560Thr)
NM_020778.5(ALPK3):c.1681C>T (p.Pro561Ser)
NM_020778.5(ALPK3):c.1685C>T (p.Thr562Ile) rs772032580
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.1718C>T (p.Ser573Phe)
NM_020778.5(ALPK3):c.1720A>T (p.Ile574Phe)
NM_020778.5(ALPK3):c.1721T>A (p.Ile574Asn)
NM_020778.5(ALPK3):c.1724G>A (p.Gly575Glu)
NM_020778.5(ALPK3):c.1726G>T (p.Val576Phe)
NM_020778.5(ALPK3):c.1733C>G (p.Thr578Ser)
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.1756G>A (p.Glu586Lys)
NM_020778.5(ALPK3):c.1768A>G (p.Met590Val)
NM_020778.5(ALPK3):c.1768A>T (p.Met590Leu)
NM_020778.5(ALPK3):c.1770G>A (p.Met590Ile)
NM_020778.5(ALPK3):c.1784A>T (p.Asp595Val)
NM_020778.5(ALPK3):c.1795T>C (p.Ser599Pro)
NM_020778.5(ALPK3):c.17C>G (p.Ala6Gly)
NM_020778.5(ALPK3):c.1806G>C (p.Gln602His)
NM_020778.5(ALPK3):c.1811C>A (p.Thr604Asn)
NM_020778.5(ALPK3):c.1820A>G (p.Lys607Arg)
NM_020778.5(ALPK3):c.182G>A (p.Arg61Lys)
NM_020778.5(ALPK3):c.183-3T>G
NM_020778.5(ALPK3):c.1832A>G (p.Gln611Arg)
NM_020778.5(ALPK3):c.1837G>A (p.Asp613Asn) rs766592149
NM_020778.5(ALPK3):c.1840G>A (p.Gly614Arg)
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.1855G>A (p.Asp619Asn)
NM_020778.5(ALPK3):c.1856A>T (p.Asp619Val)
NM_020778.5(ALPK3):c.185G>A (p.Ser62Asn)
NM_020778.5(ALPK3):c.1862G>A (p.Arg621Lys)
NM_020778.5(ALPK3):c.1865C>T (p.Thr622Ile)
NM_020778.5(ALPK3):c.186C>A (p.Ser62Arg)
NM_020778.5(ALPK3):c.1871G>A (p.Gly624Glu)
NM_020778.5(ALPK3):c.1880C>T (p.Thr627Ile)
NM_020778.5(ALPK3):c.1883A>G (p.Gln628Arg)
NM_020778.5(ALPK3):c.1901G>A (p.Arg634His) rs34906636
NM_020778.5(ALPK3):c.1921G>A (p.Val641Met)
NM_020778.5(ALPK3):c.1922T>G (p.Val641Gly)
NM_020778.5(ALPK3):c.1923G>A (p.Val641=)
NM_020778.5(ALPK3):c.1925A>G (p.Asp642Gly)
NM_020778.5(ALPK3):c.1928C>G (p.Ala643Gly)
NM_020778.5(ALPK3):c.1928C>T (p.Ala643Val)
NM_020778.5(ALPK3):c.1940A>T (p.Glu647Val)
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.1967G>A (p.Ser656Asn)
NM_020778.5(ALPK3):c.1984A>G (p.Met662Val)
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.199A>T (p.Ile67Phe)
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.2006C>T (p.Thr669Ile)
NM_020778.5(ALPK3):c.2014G>C (p.Glu672Gln)
NM_020778.5(ALPK3):c.2026G>T (p.Ala676Ser)
NM_020778.5(ALPK3):c.2033A>G (p.Glu678Gly)
NM_020778.5(ALPK3):c.2038A>G (p.Ile680Val)
NM_020778.5(ALPK3):c.203T>C (p.Ile68Thr)
NM_020778.5(ALPK3):c.2041C>A (p.Gln681Lys)
NM_020778.5(ALPK3):c.2056G>A (p.Ala686Thr)
NM_020778.5(ALPK3):c.2056G>C (p.Ala686Pro)
NM_020778.5(ALPK3):c.2065G>T (p.Asp689Tyr)
NM_020778.5(ALPK3):c.206C>T (p.Ala69Val) rs966823226
NM_020778.5(ALPK3):c.2071G>T (p.Gly691Cys)
NM_020778.5(ALPK3):c.2072G>A (p.Gly691Asp)
NM_020778.5(ALPK3):c.2077C>G (p.Gln693Glu)
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.2111T>G (p.Met704Arg)
NM_020778.5(ALPK3):c.2117G>T (p.Gly706Val)
NM_020778.5(ALPK3):c.2124G>C (p.Lys708Asn)
NM_020778.5(ALPK3):c.2129C>T (p.Thr710Met)
NM_020778.5(ALPK3):c.2153C>T (p.Thr718Ile)
NM_020778.5(ALPK3):c.2158A>T (p.Met720Leu)
NM_020778.5(ALPK3):c.215C>A (p.Thr72Lys)
NM_020778.5(ALPK3):c.215C>T (p.Thr72Ile) rs781502917
NM_020778.5(ALPK3):c.2160G>A (p.Met720Ile)
NM_020778.5(ALPK3):c.2164G>T (p.Gly722Cys)
NM_020778.5(ALPK3):c.2182G>A (p.Val728Met)
NM_020778.5(ALPK3):c.2183T>A (p.Val728Glu)
NM_020778.5(ALPK3):c.2185G>A (p.Ala729Thr)
NM_020778.5(ALPK3):c.2186C>T (p.Ala729Val)
NM_020778.5(ALPK3):c.2189C>A (p.Thr730Asn)
NM_020778.5(ALPK3):c.2189C>G (p.Thr730Ser)
NM_020778.5(ALPK3):c.2197G>A (p.Gly733Ser) rs34443853
NM_020778.5(ALPK3):c.2197G>T (p.Gly733Cys)
NM_020778.5(ALPK3):c.2198G>T (p.Gly733Val)
NM_020778.5(ALPK3):c.2200C>T (p.Pro734Ser) rs1295230054
NM_020778.5(ALPK3):c.2213C>T (p.Thr738Ile)
NM_020778.5(ALPK3):c.2221C>T (p.Leu741Phe)
NM_020778.5(ALPK3):c.2239C>T (p.Pro747Ser)
NM_020778.5(ALPK3):c.224C>A (p.Thr75Asn)
NM_020778.5(ALPK3):c.2264G>A (p.Cys755Tyr)
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.229C>A (p.Pro77Thr)
NM_020778.5(ALPK3):c.2302A>G (p.Lys768Glu)
NM_020778.5(ALPK3):c.2303A>T (p.Lys768Ile)
NM_020778.5(ALPK3):c.2304A>T (p.Lys768Asn)
NM_020778.5(ALPK3):c.2306C>G (p.Pro769Arg)
NM_020778.5(ALPK3):c.230C>A (p.Pro77Gln)
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.2357A>G (p.His786Arg)
NM_020778.5(ALPK3):c.2358T>A (p.His786Gln)
NM_020778.5(ALPK3):c.2363A>G (p.Gln788Arg)
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.2377C>T (p.Pro793Ser)
NM_020778.5(ALPK3):c.2378C>G (p.Pro793Arg)
NM_020778.5(ALPK3):c.2393T>C (p.Leu798Pro) rs1002796135
NM_020778.5(ALPK3):c.2398C>A (p.Leu800Ile)
NM_020778.5(ALPK3):c.2398C>G (p.Leu800Val)
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.2429T>A (p.Val810Glu) rs2141567836
NM_020778.5(ALPK3):c.242C>T (p.Thr81Ile)
NM_020778.5(ALPK3):c.2432A>G (p.Glu811Gly) rs2141567846
NM_020778.5(ALPK3):c.2434C>A (p.Gln812Lys)
NM_020778.5(ALPK3):c.2441G>A (p.Gly814Glu)
NM_020778.5(ALPK3):c.2448G>C (p.Glu816Asp)
NM_020778.5(ALPK3):c.2453G>A (p.Cys818Tyr)
NM_020778.5(ALPK3):c.2458G>C (p.Gly820Arg)
NM_020778.5(ALPK3):c.2465A>G (p.Gln822Arg)
NM_020778.5(ALPK3):c.2466G>T (p.Gln822His) rs1963874697
NM_020778.5(ALPK3):c.2493G>T (p.Gln831His)
NM_020778.5(ALPK3):c.2497G>T (p.Asp833Tyr) rs2141567926
NM_020778.5(ALPK3):c.24C>A (p.Ser8Arg) rs1301150493
NM_020778.5(ALPK3):c.2504C>A (p.Pro835Gln)
NM_020778.5(ALPK3):c.2510A>T (p.Gln837Leu) rs1057524086
NM_020778.5(ALPK3):c.2515C>T (p.Pro839Ser)
NM_020778.5(ALPK3):c.2531C>G (p.Pro844Arg)
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.2539G>A (p.Val847Met)
NM_020778.5(ALPK3):c.2543C>A (p.Pro848Gln)
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.257G>A (p.Arg86Gln)
NM_020778.5(ALPK3):c.2582G>A (p.Ser861Asn)
NM_020778.5(ALPK3):c.2588A>G (p.Glu863Gly)
NM_020778.5(ALPK3):c.2593C>A (p.Pro865Thr)
NM_020778.5(ALPK3):c.2593C>T (p.Pro865Ser)
NM_020778.5(ALPK3):c.2606C>T (p.Ser869Phe)
NM_020778.5(ALPK3):c.2608C>T (p.Leu870Phe)
NM_020778.5(ALPK3):c.2611C>T (p.Pro871Ser) rs1439652574
NM_020778.5(ALPK3):c.262G>T (p.Val88Leu)
NM_020778.5(ALPK3):c.2638A>G (p.Lys880Glu)
NM_020778.5(ALPK3):c.2651G>A (p.Cys884Tyr)
NM_020778.5(ALPK3):c.2659C>T (p.Pro887Ser)
NM_020778.5(ALPK3):c.2663C>T (p.Thr888Ile)
NM_020778.5(ALPK3):c.2677A>C (p.Ser893Arg)
NM_020778.5(ALPK3):c.2678G>A (p.Ser893Asn)
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.2702A>G (p.Glu901Gly)
NM_020778.5(ALPK3):c.2707C>A (p.Gln903Lys)
NM_020778.5(ALPK3):c.2710G>A (p.Val904Ile)
NM_020778.5(ALPK3):c.2716A>T (p.Met906Leu) rs1249860975
NM_020778.5(ALPK3):c.2718G>A (p.Met906Ile)
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.2737C>T (p.His913Tyr) rs2141568220
NM_020778.5(ALPK3):c.2759C>T (p.Thr920Ile)
NM_020778.5(ALPK3):c.2770_2771delinsGA (p.Pro924Glu)
NM_020778.5(ALPK3):c.2771C>T (p.Pro924Leu) rs1346027337
NM_020778.5(ALPK3):c.2773C>T (p.Pro925Ser)
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
NM_020778.5(ALPK3):c.2783T>C (p.Met928Thr)
NM_020778.5(ALPK3):c.2785G>A (p.Ala929Thr)
NM_020778.5(ALPK3):c.2789C>T (p.Thr930Ile)
NM_020778.5(ALPK3):c.2795G>A (p.Ser932Asn)
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>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.2845C>G (p.Pro949Ala)
NM_020778.5(ALPK3):c.2845C>T (p.Pro949Ser)
NM_020778.5(ALPK3):c.2849G>T (p.Arg950Leu) rs772259344
NM_020778.5(ALPK3):c.2860C>T (p.Pro954Ser)
NM_020778.5(ALPK3):c.2861C>T (p.Pro954Leu)
NM_020778.5(ALPK3):c.2864G>A (p.Gly955Asp)
NM_020778.5(ALPK3):c.2869A>G (p.Ile957Val)
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.2896CTG[2] (p.Leu968del)
NM_020778.5(ALPK3):c.2909T>C (p.Leu970Pro)
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.2929G>A (p.Gly977Arg)
NM_020778.5(ALPK3):c.292T>C (p.Cys98Arg) rs1963503521
NM_020778.5(ALPK3):c.2939G>C (p.Gly980Ala)
NM_020778.5(ALPK3):c.293G>C (p.Cys98Ser)
NM_020778.5(ALPK3):c.2941G>A (p.Glu981Lys)
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.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.3017T>G (p.Leu1006Arg) rs1963884081
NM_020778.5(ALPK3):c.3019A>C (p.Ser1007Arg)
NM_020778.5(ALPK3):c.3023C>T (p.Pro1008Leu)
NM_020778.5(ALPK3):c.3026G>C (p.Arg1009Pro) rs138597569
NM_020778.5(ALPK3):c.3028A>G (p.Thr1010Ala)
NM_020778.5(ALPK3):c.3037C>G (p.Arg1013Gly)
NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys) rs142109538
NM_020778.5(ALPK3):c.3046G>A (p.Glu1016Lys)
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.3061A>C (p.Asn1021His)
NM_020778.5(ALPK3):c.3062A>C (p.Asn1021Thr) rs2141568606
NM_020778.5(ALPK3):c.3070G>T (p.Val1024Leu)
NM_020778.5(ALPK3):c.3079G>T (p.Ala1027Ser)
NM_020778.5(ALPK3):c.3080C>A (p.Ala1027Glu)
NM_020778.5(ALPK3):c.3084G>T (p.Gln1028His)
NM_020778.5(ALPK3):c.3089T>C (p.Leu1030Pro) rs2141568627
NM_020778.5(ALPK3):c.30_63delinsGTCGGGTCGGGGCTGGGTCGGGGCTGGGTCGGGGGCGGGGGGCGACGGTGAGGACGGTGGG (p.Trp11_Ala19delinsSerGlyArgGlyTrpValGlyAlaGlySerGlyAlaGlyGlyAspGlyGluAsp)
NM_020778.5(ALPK3):c.3112C>G (p.Arg1038Gly)
NM_020778.5(ALPK3):c.3125G>A (p.Gly1042Asp)
NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys) rs34414438
NM_020778.5(ALPK3):c.3148G>T (p.Ala1050Ser)
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.3203C>T (p.Ser1068Phe)
NM_020778.5(ALPK3):c.3205C>T (p.Leu1069Phe)
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.3239_3250del (p.Asp1080_Leu1083del)
NM_020778.5(ALPK3):c.3250G>A (p.Ala1084Thr)
NM_020778.5(ALPK3):c.3254C>T (p.Ser1085Leu)
NM_020778.5(ALPK3):c.3256G>A (p.Glu1086Lys)
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.3272G>T (p.Gly1091Val)
NM_020778.5(ALPK3):c.3274G>A (p.Glu1092Lys)
NM_020778.5(ALPK3):c.3276A>G (p.Glu1092=)
NM_020778.5(ALPK3):c.3277G>A (p.Gly1093Arg)
NM_020778.5(ALPK3):c.3286T>C (p.Ser1096Pro)
NM_020778.5(ALPK3):c.3287C>G (p.Ser1096Cys)
NM_020778.5(ALPK3):c.3289_3290delinsTT (p.Pro1097Phe) rs2141568853
NM_020778.5(ALPK3):c.328T>A (p.Trp110Arg)
NM_020778.5(ALPK3):c.328T>C (p.Trp110Arg)
NM_020778.5(ALPK3):c.3292G>C (p.Glu1098Gln)
NM_020778.5(ALPK3):c.3295G>A (p.Gly1099Arg) rs1234276224
NM_020778.5(ALPK3):c.3304C>G (p.Leu1102Val)
NM_020778.5(ALPK3):c.3307C>G (p.Leu1103Val)
NM_020778.5(ALPK3):c.3310G>A (p.Gly1104Arg) rs1963888916
NM_020778.5(ALPK3):c.3322G>A (p.Glu1108Lys) rs2141568923
NM_020778.5(ALPK3):c.3338G>T (p.Gly1113Val)
NM_020778.5(ALPK3):c.3341G>C (p.Arg1114Pro)
NM_020778.5(ALPK3):c.3343C>A (p.Leu1115Met)
NM_020778.5(ALPK3):c.3344T>C (p.Leu1115Pro)
NM_020778.5(ALPK3):c.3367G>A (p.Ala1123Thr)
NM_020778.5(ALPK3):c.3368C>A (p.Ala1123Asp)
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.3406G>A (p.Glu1136Lys)
NM_020778.5(ALPK3):c.3406G>C (p.Glu1136Gln)
NM_020778.5(ALPK3):c.3407A>G (p.Glu1136Gly)
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.3439G>T (p.Ala1147Ser)
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.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.3500G>A (p.Arg1167Lys)
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.3532G>T (p.Gly1178Trp)
NM_020778.5(ALPK3):c.3535G>A (p.Glu1179Lys) rs776845827
NM_020778.5(ALPK3):c.3535G>C (p.Glu1179Gln)
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.3545C>T (p.Thr1182Ile)
NM_020778.5(ALPK3):c.3548C>T (p.Pro1183Leu)
NM_020778.5(ALPK3):c.3552A>T (p.Glu1184Asp)
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.3581G>A (p.Arg1194Gln) rs543260061
NM_020778.5(ALPK3):c.3584G>A (p.Gly1195Glu)
NM_020778.5(ALPK3):c.3595A>T (p.Ser1199Cys)
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.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.3638G>A (p.Arg1213His)
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.365G>A (p.Gly122Asp)
NM_020778.5(ALPK3):c.3674A>C (p.Glu1225Ala)
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.3700G>A (p.Ala1234Thr)
NM_020778.5(ALPK3):c.3710A>G (p.Asp1237Gly)
NM_020778.5(ALPK3):c.3716G>A (p.Gly1239Asp)
NM_020778.5(ALPK3):c.3719C>T (p.Pro1240Leu)
NM_020778.5(ALPK3):c.371C>G (p.Pro124Arg)
NM_020778.5(ALPK3):c.3728A>G (p.Lys1243Arg)
NM_020778.5(ALPK3):c.3734_3735delinsTT (p.Gly1245Val)
NM_020778.5(ALPK3):c.3736G>C (p.Gly1246Arg)
NM_020778.5(ALPK3):c.3742G>C (p.Asp1248His)
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.3764A>G (p.Glu1255Gly)
NM_020778.5(ALPK3):c.3791C>T (p.Pro1264Leu)
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.3809T>A (p.Leu1270Gln)
NM_020778.5(ALPK3):c.3814A>G (p.Lys1272Glu)
NM_020778.5(ALPK3):c.3816A>T (p.Lys1272Asn)
NM_020778.5(ALPK3):c.3817G>A (p.Ala1273Thr)
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.3833G>A (p.Arg1278Gln)
NM_020778.5(ALPK3):c.3833G>C (p.Arg1278Pro)
NM_020778.5(ALPK3):c.3835A>C (p.Lys1279Gln)
NM_020778.5(ALPK3):c.3835_3843del (p.Lys1279_Arg1281del)
NM_020778.5(ALPK3):c.3836A>T (p.Lys1279Met)
NM_020778.5(ALPK3):c.3842G>A (p.Arg1281Gln)
NM_020778.5(ALPK3):c.385A>C (p.Thr129Pro)
NM_020778.5(ALPK3):c.3868G>A (p.Gly1290Ser)
NM_020778.5(ALPK3):c.3886T>G (p.Cys1296Gly)
NM_020778.5(ALPK3):c.3902T>C (p.Ile1301Thr)
NM_020778.5(ALPK3):c.3917T>G (p.Val1306Gly)
NM_020778.5(ALPK3):c.3919T>G (p.Leu1307Val)
NM_020778.5(ALPK3):c.3921G>C (p.Leu1307Phe)
NM_020778.5(ALPK3):c.3923C>G (p.Thr1308Arg)
NM_020778.5(ALPK3):c.3925T>G (p.Trp1309Gly)
NM_020778.5(ALPK3):c.3946G>A (p.Val1316Met)
NM_020778.5(ALPK3):c.3950G>C (p.Gly1317Ala)
NM_020778.5(ALPK3):c.3951C>T (p.Gly1317=)
NM_020778.5(ALPK3):c.3962G>A (p.Arg1321Lys)
NM_020778.5(ALPK3):c.3974A>T (p.Asp1325Val)
NM_020778.5(ALPK3):c.3980G>T (p.Gly1327Val)
NM_020778.5(ALPK3):c.3997A>G (p.Ile1333Val)
NM_020778.5(ALPK3):c.4000G>A (p.Val1334Met)
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.4013C>A (p.Pro1338His)
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.4049A>G (p.Asn1350Ser)
NM_020778.5(ALPK3):c.404A>G (p.His135Arg)
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.4066T>C (p.Ser1356Pro)
NM_020778.5(ALPK3):c.406A>G (p.Thr136Ala)
NM_020778.5(ALPK3):c.4070C>G (p.Thr1357Ser) rs1064796135
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn)
NM_020778.5(ALPK3):c.4072G>T (p.Asp1358Tyr) rs780843840
NM_020778.5(ALPK3):c.4081_4083delinsTTT (p.Leu1361Phe)
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+3G>A
NM_020778.5(ALPK3):c.4093+4A>C
NM_020778.5(ALPK3):c.4093+5G>C
NM_020778.5(ALPK3):c.4109T>C (p.Ile1370Thr)
NM_020778.5(ALPK3):c.410T>G (p.Leu137Arg)
NM_020778.5(ALPK3):c.4117G>A (p.Glu1373Lys)
NM_020778.5(ALPK3):c.4121A>T (p.Glu1374Val)
NM_020778.5(ALPK3):c.4126G>A (p.Glu1376Lys)
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.4130-13T>A rs2141572504
NM_020778.5(ALPK3):c.4130-5T>G
NM_020778.5(ALPK3):c.4130T>C (p.Val1377Ala)
NM_020778.5(ALPK3):c.4138G>A (p.Glu1380Lys)
NM_020778.5(ALPK3):c.4149G>A (p.Met1383Ile)
NM_020778.5(ALPK3):c.4157T>C (p.Met1386Thr)
NM_020778.5(ALPK3):c.4159G>A (p.Val1387Met)
NM_020778.5(ALPK3):c.4169A>C (p.Lys1390Thr)
NM_020778.5(ALPK3):c.4183T>A (p.Ser1395Thr)
NM_020778.5(ALPK3):c.4192T>C (p.Trp1398Arg)
NM_020778.5(ALPK3):c.4192T>G (p.Trp1398Gly)
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.4198G>A (p.Asp1400Asn)
NM_020778.5(ALPK3):c.4204C>G (p.Leu1402Val) rs1357707595
NM_020778.5(ALPK3):c.4208T>C (p.Phe1403Ser)
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+5G>C rs2141555726
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.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.4237G>T (p.Gly1413Trp)
NM_020778.5(ALPK3):c.423G>A (p.Arg141=)
NM_020778.5(ALPK3):c.4240G>T (p.Gly1414Cys)
NM_020778.5(ALPK3):c.4241G>T (p.Gly1414Val)
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.4285A>T (p.Ile1429Phe)
NM_020778.5(ALPK3):c.428G>C (p.Arg143Pro)
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg) rs750258262
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.4324T>C (p.Cys1442Arg)
NM_020778.5(ALPK3):c.4328T>C (p.Ile1443Thr)
NM_020778.5(ALPK3):c.4334A>G (p.Lys1445Arg)
NM_020778.5(ALPK3):c.4336G>C (p.Val1446Leu)
NM_020778.5(ALPK3):c.4336G>T (p.Val1446Leu) rs1963963607
NM_020778.5(ALPK3):c.4343G>A (p.Ser1448Asn)
NM_020778.5(ALPK3):c.4344C>A (p.Ser1448Arg)
NM_020778.5(ALPK3):c.4344C>G (p.Ser1448Arg)
NM_020778.5(ALPK3):c.434A>T (p.Glu145Val) rs2141556144
NM_020778.5(ALPK3):c.4364G>A (p.Ser1455Asn)
NM_020778.5(ALPK3):c.4365C>A (p.Ser1455Arg)
NM_020778.5(ALPK3):c.4366A>C (p.Ser1456Arg)
NM_020778.5(ALPK3):c.4373C>A (p.Thr1458Asn)
NM_020778.5(ALPK3):c.4378C>G (p.Leu1460Val)
NM_020778.5(ALPK3):c.4379T>C (p.Leu1460Pro)
NM_020778.5(ALPK3):c.4391A>G (p.Asn1464Ser)
NM_020778.5(ALPK3):c.4396G>A (p.Asp1466Asn)
NM_020778.5(ALPK3):c.4396G>C (p.Asp1466His)
NM_020778.5(ALPK3):c.4398C>A (p.Asp1466Glu)
NM_020778.5(ALPK3):c.4399G>A (p.Val1467Ile)
NM_020778.5(ALPK3):c.439G>T (p.Ala147Ser)
NM_020778.5(ALPK3):c.4405A>G (p.Ile1469Val)
NM_020778.5(ALPK3):c.4406T>C (p.Ile1469Thr)
NM_020778.5(ALPK3):c.4410+6A>G
NM_020778.5(ALPK3):c.4410G>A (p.Gln1470=)
NM_020778.5(ALPK3):c.4411G>C (p.Gly1471Arg)
NM_020778.5(ALPK3):c.4415G>C (p.Cys1472Ser)
NM_020778.5(ALPK3):c.4422C>G (p.Ile1474Met)
NM_020778.5(ALPK3):c.442G>A (p.Ala148Thr)
NM_020778.5(ALPK3):c.4430T>C (p.Met1477Thr)
NM_020778.5(ALPK3):c.4433G>A (p.Ser1478Asn)
NM_020778.5(ALPK3):c.4436G>C (p.Arg1479Pro)
NM_020778.5(ALPK3):c.4455C>G (p.Phe1485Leu)
NM_020778.5(ALPK3):c.4456G>T (p.Ala1486Ser) rs751953827
NM_020778.5(ALPK3):c.4469G>C (p.Arg1490Pro)
NM_020778.5(ALPK3):c.446T>C (p.Ile149Thr)
NM_020778.5(ALPK3):c.448T>C (p.Tyr150His)
NM_020778.5(ALPK3):c.4496C>T (p.Pro1499Leu)
NM_020778.5(ALPK3):c.4498G>C (p.Glu1500Gln)
NM_020778.5(ALPK3):c.4504A>G (p.Ile1502Val)
NM_020778.5(ALPK3):c.4505T>C (p.Ile1502Thr)
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>A (p.Arg1509=)
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.4535A>G (p.Asn1512Ser) rs2141573998
NM_020778.5(ALPK3):c.4537A>T (p.Asn1513Tyr) rs2141574002
NM_020778.5(ALPK3):c.4549G>C (p.Ala1517Pro)
NM_020778.5(ALPK3):c.4550C>T (p.Ala1517Val)
NM_020778.5(ALPK3):c.4552A>T (p.Thr1518Ser)
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.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.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.4630T>C (p.Ser1544Pro)
NM_020778.5(ALPK3):c.4639T>G (p.Ser1547Ala)
NM_020778.5(ALPK3):c.463C>A (p.Gln155Lys)
NM_020778.5(ALPK3):c.4645G>A (p.Ala1549Thr)
NM_020778.5(ALPK3):c.4648A>G (p.Met1550Val)
NM_020778.5(ALPK3):c.4649T>C (p.Met1550Thr)
NM_020778.5(ALPK3):c.4655A>C (p.Lys1552Thr) rs1237773925
NM_020778.5(ALPK3):c.4657T>C (p.Cys1553Arg)
NM_020778.5(ALPK3):c.4657T>G (p.Cys1553Gly)
NM_020778.5(ALPK3):c.4664C>A (p.Thr1555Asn)
NM_020778.5(ALPK3):c.4670A>G (p.Gln1557Arg) rs1225132252
NM_020778.5(ALPK3):c.4679T>C (p.Leu1560Pro)
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.4702T>C (p.Phe1568Leu)
NM_020778.5(ALPK3):c.4722A>G (p.Ala1574=) rs2141574193
NM_020778.5(ALPK3):c.4723+4C>T rs560395563
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.4754T>C (p.Ile1585Thr)
NM_020778.5(ALPK3):c.475G>A (p.Gly159Ser)
NM_020778.5(ALPK3):c.4766T>C (p.Leu1589Pro)
NM_020778.5(ALPK3):c.4772+1G>T
NM_020778.5(ALPK3):c.4772G>C (p.Gly1591Ala)
NM_020778.5(ALPK3):c.4773-11T>C
NM_020778.5(ALPK3):c.4773-11del
NM_020778.5(ALPK3):c.4773-13T>A
NM_020778.5(ALPK3):c.4773-2A>G
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.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.4828T>C (p.Ser1610Pro)
NM_020778.5(ALPK3):c.4832A>C (p.His1611Pro)
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.484T>C (p.Ser162Pro)
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.487T>C (p.Cys163Arg)
NM_020778.5(ALPK3):c.4880G>T (p.Gly1627Val)
NM_020778.5(ALPK3):c.4882C>T (p.Pro1628Ser)
NM_020778.5(ALPK3):c.4886_4887inv (p.Glu1629Ala)
NM_020778.5(ALPK3):c.4887G>T (p.Glu1629Asp)
NM_020778.5(ALPK3):c.4894C>T (p.His1632Tyr)
NM_020778.5(ALPK3):c.4896C>A (p.His1632Gln) rs1387694108
NM_020778.5(ALPK3):c.4900C>G (p.Gln1634Glu)
NM_020778.5(ALPK3):c.4912A>C (p.Lys1638Gln)
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.4979G>A (p.Gly1660Asp) rs1064796120
NM_020778.5(ALPK3):c.4993C>T (p.Gln1665Ter)
NM_020778.5(ALPK3):c.5000C>T (p.Thr1667Ile)
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.5024A>G (p.Lys1675Arg)
NM_020778.5(ALPK3):c.5027C>T (p.Ala1676Val) rs150250443
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.505G>A (p.Val169Met)
NM_020778.5(ALPK3):c.505G>C (p.Val169Leu)
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.5078C>A (p.Pro1693His)
NM_020778.5(ALPK3):c.5080A>G (p.Thr1694Ala)
NM_020778.5(ALPK3):c.5089G>A (p.Glu1697Lys) rs2141576412
NM_020778.5(ALPK3):c.509G>T (p.Gly170Val)
NM_020778.5(ALPK3):c.50C>G (p.Ser17Trp)
NM_020778.5(ALPK3):c.50C>T (p.Ser17Leu)
NM_020778.5(ALPK3):c.5104C>T (p.Gln1702Ter)
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?) rs753251432
NM_020778.5(ALPK3):c.5116T>C (p.Ter1706Gln)
NM_020778.5(ALPK3):c.511A>T (p.Thr171Ser)
NM_020778.5(ALPK3):c.518C>T (p.Thr173Ile) rs2141556205
NM_020778.5(ALPK3):c.522G>C (p.Glu174Asp)
NM_020778.5(ALPK3):c.524A>C (p.Tyr175Ser)
NM_020778.5(ALPK3):c.524A>G (p.Tyr175Cys) rs753599829
NM_020778.5(ALPK3):c.528G>T (p.Lys176Asn)
NM_020778.5(ALPK3):c.542G>C (p.Trp181Ser) rs1442088577
NM_020778.5(ALPK3):c.553T>G (p.Leu185Val)
NM_020778.5(ALPK3):c.554T>C (p.Leu185Ser)
NM_020778.5(ALPK3):c.556A>G (p.Lys186Glu) rs2141556244
NM_020778.5(ALPK3):c.558G>C (p.Lys186Asn)
NM_020778.5(ALPK3):c.560G>A (p.Arg187His)
NM_020778.5(ALPK3):c.563A>G (p.Lys188Arg)
NM_020778.5(ALPK3):c.566C>A (p.Ala189Asp)
NM_020778.5(ALPK3):c.569C>G (p.Ala190Gly) rs751010387
NM_020778.5(ALPK3):c.576G>T (p.Lys192Asn)
NM_020778.5(ALPK3):c.578T>C (p.Leu193Pro)
NM_020778.5(ALPK3):c.578T>G (p.Leu193Arg)
NM_020778.5(ALPK3):c.578_580dup (p.Leu193_Arg194insLeu)
NM_020778.5(ALPK3):c.580C>T (p.Arg194Cys)
NM_020778.5(ALPK3):c.583G>A (p.Glu195Lys)
NM_020778.5(ALPK3):c.588C>G (p.Ile196Met) rs1165843264
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.61G>C (p.Gly21Arg)
NM_020778.5(ALPK3):c.61G>T (p.Gly21Cys) rs1186307775
NM_020778.5(ALPK3):c.626A>G (p.Glu209Gly)
NM_020778.5(ALPK3):c.626A>T (p.Glu209Val)
NM_020778.5(ALPK3):c.62G>A (p.Gly21Asp)
NM_020778.5(ALPK3):c.631G>T (p.Asp211Tyr)
NM_020778.5(ALPK3):c.634A>G (p.Thr212Ala)
NM_020778.5(ALPK3):c.635C>A (p.Thr212Asn)
NM_020778.5(ALPK3):c.640C>A (p.Arg214Ser)
NM_020778.5(ALPK3):c.650G>A (p.Ser217Asn)
NM_020778.5(ALPK3):c.652C>T (p.Pro218Ser)
NM_020778.5(ALPK3):c.655G>C (p.Asp219His)
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.669A>T (p.Arg223=)
NM_020778.5(ALPK3):c.671A>G (p.Lys224Arg)
NM_020778.5(ALPK3):c.673C>T (p.Arg225Trp) rs2141556445
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.692A>G (p.Gln231Arg) rs964593614
NM_020778.5(ALPK3):c.695C>G (p.Ala232Gly)
NM_020778.5(ALPK3):c.69_80del (p.Glu24_Gly27del) rs1163387390
NM_020778.5(ALPK3):c.701G>T (p.Gly234Val) rs1278708077
NM_020778.5(ALPK3):c.707C>G (p.Ser236Trp)
NM_020778.5(ALPK3):c.707C>T (p.Ser236Leu)
NM_020778.5(ALPK3):c.709G>T (p.Val237Phe)
NM_020778.5(ALPK3):c.71A>G (p.Glu24Gly) rs1963374337
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.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.77A>C (p.Asp26Ala)
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.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.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.872G>T (p.Gly291Val)
NM_020778.5(ALPK3):c.876G>T (p.Leu292Phe) rs1963643413
NM_020778.5(ALPK3):c.880A>G (p.Thr294Ala) rs941631732
NM_020778.5(ALPK3):c.881C>T (p.Thr294Ile)
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.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.903G>T (p.Glu301Asp)
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.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.967T>C (p.Ser323Pro)
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)

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