Alpk1 Variant Search Result - Rat Genome Database

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791 records found for search term Alpk1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150516939	CV1227378	single nucleotide variant	NM_025144.4(ALPK1):c.*256C>G	not provided [RCV001639479]	benign	4	112441466	112441466	Human		name
156370950	CV1923535	single nucleotide variant	NM_025144.4(ALPK1):c.476-8C>A	not provided [RCV002633377]	benign	4	112423936	112423936	Human		name
156053696	CV1924030	single nucleotide variant	NM_025144.4(ALPK1):c.700-3C>T	not provided [RCV002638030]	uncertain significance	4	112427567	112427567	Human		name
156374446	CV1933020	single nucleotide variant	NM_025144.4(ALPK1):c.536-6T>C	not provided [RCV002633705]	likely benign	4	112425659	112425659	Human		name
156201791	CV1952475	single nucleotide variant	NM_025144.4(ALPK1):c.900+7G>A	not provided [RCV002574804]	benign	4	112429260	112429260	Human		name
156367002	CV2020983	single nucleotide variant	NM_025144.4(ALPK1):c.796-3C>T	not provided [RCV002721250]	uncertain significance	4	112429146	112429146	Human		name
156142949	CV2033019	single nucleotide variant	NM_025144.4(ALPK1):c.276+2T>C	not provided [RCV002740963]	uncertain significance	4	112382554	112382554	Human		name
156029647	CV2088668	single nucleotide variant	NM_025144.4(ALPK1):c.475+4T>A	not provided [RCV002866994]	uncertain significance	4	112412029	112412029	Human		name
156200226	CV2182783	single nucleotide variant	NM_025144.4(ALPK1):c.900+6C>T	not provided [RCV003024424]	benign	4	112429259	112429259	Human		name
405077700	CV2869685	single nucleotide variant	NM_025144.4(ALPK1):c.276+3A>G	not provided [RCV003548923]	uncertain significance	4	112382555	112382555	Human		name
405078873	CV2945313	single nucleotide variant	NM_025144.4(ALPK1):c.475+5G>A	not provided [RCV003664382]	uncertain significance	4	112412030	112412030	Human		name
405018061	CV2991882	duplication	NM_025144.4(ALPK1):c.901-6dup	not provided [RCV003694584]	benign	4	112430437	112430438	Human		name
405174089	CV3052569	single nucleotide variant	NM_025144.4(ALPK1):c.476-8C>T	not provided [RCV003728186]	likely benign	4	112423936	112423936	Human		name
597900698	CV3741108	single nucleotide variant	NM_025144.4(ALPK1):c.475+8C>T	not provided [RCV005072271]	likely benign	4	112412033	112412033	Human		name
597869731	CV3749821	single nucleotide variant	NM_025144.4(ALPK1):c.699+8G>T	not provided [RCV005068502]	likely benign	4	112426551	112426551	Human		name
597932681	CV3812769	single nucleotide variant	NM_025144.4(ALPK1):c.475+6C>A	not provided [RCV005157301]	uncertain significance	4	112412031	112412031	Human		name
156078266	CV1959654	deletion	NM_025144.4(ALPK1):c.3035-6del	not provided [RCV002569823]	benign	4	112435134	112435134	Human		name
156416708	CV1976780	single nucleotide variant	NM_025144.4(ALPK1):c.900+13A>T	not provided [RCV002589831]	likely benign	4	112429266	112429266	Human		name
156260119	CV1977503	single nucleotide variant	NM_025144.4(ALPK1):c.900+17G>A	not provided [RCV002597752]	likely benign	4	112429270	112429270	Human		name
156326923	CV1980677	single nucleotide variant	NM_025144.4(ALPK1):c.475+10C>T	not provided [RCV002630705]	likely benign	4	112412035	112412035	Human		name
156300888	CV2002135	single nucleotide variant	NM_025144.4(ALPK1):c.622+13A>G	not provided [RCV002671154]	likely benign\|uncertain significance	4	112425764	112425764	Human		name
156213045	CV2037035	duplication	NM_025144.4(ALPK1):c.3035-6dup	not provided [RCV002790322]	benign	4	112435133	112435134	Human		name
155966169	CV2048909	deletion	NM_025144.4(ALPK1):c.475+13del	not provided [RCV002776501]	likely benign	4	112412037	112412037	Human		name
156239756	CV2115883	single nucleotide variant	NM_025144.4(ALPK1):c.3035-6T>C	not provided [RCV002919254]	likely benign	4	112435142	112435142	Human		name
156016002	CV2177485	single nucleotide variant	NM_025144.4(ALPK1):c.122-16A>G	not provided [RCV003035487]	likely benign	4	112382382	112382382	Human		name
243051184	CV2415744	single nucleotide variant	NM_025144.4(ALPK1):c.3351+5G>T	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003148352]	uncertain significance	4	112438651	112438651	Human	1	name
402488092	CV2861853	single nucleotide variant	NM_025144.4(ALPK1):c.475+16C>G	not provided [RCV003544681]	likely benign	4	112412041	112412041	Human		name
405218277	CV2873539	single nucleotide variant	NM_025144.4(ALPK1):c.3351+3A>G	not provided [RCV003553428]	uncertain significance	4	112438649	112438649	Human		name
402470872	CV2904324	single nucleotide variant	NM_025144.4(ALPK1):c.3034+3A>T	not provided [RCV003570455]	uncertain significance	4	112432584	112432584	Human		name
405056862	CV2932120	single nucleotide variant	NM_025144.4(ALPK1):c.536-18T>G	not provided [RCV003580187]	likely benign	4	112425647	112425647	Human		name
405116942	CV2953405	duplication	NM_025144.4(ALPK1):c.475+10dup	not provided [RCV003667022]	likely benign	4	112412032	112412033	Human		name
405127710	CV2957163	single nucleotide variant	NM_025144.4(ALPK1):c.900+10T>C	not provided [RCV003672118]	likely benign	4	112429263	112429263	Human		name
405188146	CV2964175	single nucleotide variant	NM_025144.4(ALPK1):c.121+16G>A	not provided [RCV003676871]	likely benign	4	112377914	112377914	Human		name
405246365	CV2965757	single nucleotide variant	NM_025144.4(ALPK1):c.700-16T>C	not provided [RCV003685382]	likely benign	4	112427554	112427554	Human		name
405240951	CV2973934	single nucleotide variant	NM_025144.4(ALPK1):c.121+20C>T	not provided [RCV003683973]	likely benign	4	112377918	112377918	Human		name
405008642	CV2980036	single nucleotide variant	NM_025144.4(ALPK1):c.3034+3A>G	not provided [RCV003693793]	uncertain significance	4	112432584	112432584	Human		name
405063701	CV3020683	single nucleotide variant	NM_025144.4(ALPK1):c.3189-1G>A	not provided [RCV003697875]	uncertain significance	4	112438483	112438483	Human		name
405055736	CV3023292	single nucleotide variant	NM_025144.4(ALPK1):c.3034+1G>A	not provided [RCV003697325]	uncertain significance	4	112432582	112432582	Human		name
405253720	CV3044936	single nucleotide variant	NM_025144.4(ALPK1):c.3352-3C>T	not provided [RCV003722661]	likely benign	4	112439683	112439683	Human		name
405087166	CV3047862	single nucleotide variant	NM_025144.4(ALPK1):c.3034+7A>G	not provided [RCV003717553]	likely benign\|uncertain significance	4	112432588	112432588	Human		name
405114238	CV3115408	single nucleotide variant	NM_025144.4(ALPK1):c.277-15A>G	not provided [RCV003814090]	likely benign	4	112411812	112411812	Human		name
405180510	CV3119781	single nucleotide variant	NM_025144.4(ALPK1):c.277-14C>T	not provided [RCV003819874]	likely benign	4	112411813	112411813	Human		name
404998854	CV3120115	single nucleotide variant	NM_025144.4(ALPK1):c.276+15A>G	not provided [RCV003827905]	likely benign	4	112382567	112382567	Human		name
405065281	CV3144806	single nucleotide variant	NM_025144.4(ALPK1):c.277-13G>C	not provided [RCV003850583]	uncertain significance	4	112411814	112411814	Human		name
405161086	CV3152960	single nucleotide variant	NM_025144.4(ALPK1):c.535+13A>G	not provided [RCV003840695]	likely benign	4	112424016	112424016	Human		name
405198638	CV3164490	single nucleotide variant	NM_025144.4(ALPK1):c.3189-3T>A	not provided [RCV003860547]	uncertain significance	4	112438481	112438481	Human		name
405236388	CV3166471	single nucleotide variant	NM_025144.4(ALPK1):c.122-17A>G	not provided [RCV003853920]	likely benign	4	112382381	112382381	Human		name
402499615	CV3170318	single nucleotide variant	NM_025144.4(ALPK1):c.3351+7T>C	not provided [RCV003877690]	likely benign	4	112438653	112438653	Human		name
402487462	CV3181807	single nucleotide variant	NM_025144.4(ALPK1):c.3034+5G>A	not provided [RCV003876475]	uncertain significance	4	112432586	112432586	Human		name
597847674	CV3736741	single nucleotide variant	NM_025144.4(ALPK1):c.121+14G>A	not provided [RCV005065900]	likely benign	4	112377912	112377912	Human		name
597907223	CV3738878	single nucleotide variant	NM_025144.4(ALPK1):c.476-18T>C	not provided [RCV005073113]	likely benign	4	112423926	112423926	Human		name
597891562	CV3749394	single nucleotide variant	NM_025144.4(ALPK1):c.277-20G>A	not provided [RCV005071178]	likely benign	4	112411807	112411807	Human		name
597967620	CV3794562	single nucleotide variant	NM_025144.4(ALPK1):c.3188+1G>A	not provided [RCV005140738]	uncertain significance	4	112435302	112435302	Human		name
597950405	CV3818982	single nucleotide variant	NM_025144.4(ALPK1):c.3727+7C>T	not provided [RCV005161052]	likely benign	4	112441112	112441112	Human		name
597881815	CV3857497	single nucleotide variant	NM_025144.4(ALPK1):c.122-11G>C	not provided [RCV005199114]	likely benign	4	112382387	112382387	Human		name
156381097	CV1964287	single nucleotide variant	NM_025144.4(ALPK1):c.3727+17A>G	not provided [RCV002583171]	likely benign	4	112441122	112441122	Human		name
156087457	CV1983828	single nucleotide variant	NM_025144.4(ALPK1):c.3538+14G>A	not provided [RCV002621743]	likely benign	4	112439886	112439886	Human		name
156096368	CV2004635	single nucleotide variant	NM_025144.4(ALPK1):c.3538+15G>A	not provided [RCV002639413]\|not specified [RCV003155486]	likely benign\|uncertain significance	4	112439887	112439887	Human		name
156127773	CV2005549	single nucleotide variant	NM_025144.4(ALPK1):c.3188+16A>C	not provided [RCV002663103]	likely benign	4	112435317	112435317	Human		name
156256731	CV2041293	single nucleotide variant	NM_025144.4(ALPK1):c.3352-14T>C	not provided [RCV002806192]	likely benign	4	112439672	112439672	Human		name
156087343	CV2080104	single nucleotide variant	NM_025144.4(ALPK1):c.3728-16G>T	not provided [RCV002847590]	likely benign\|uncertain significance	4	112441187	112441187	Human		name
156314799	CV2120272	single nucleotide variant	NM_025144.4(ALPK1):c.3034+10A>G	not provided [RCV002962832]	benign	4	112432591	112432591	Human		name
156211187	CV2141968	single nucleotide variant	NM_025144.4(ALPK1):c.3188+10A>G	not provided [RCV002985598]	likely benign	4	112435311	112435311	Human		name
156057532	CV2151356	single nucleotide variant	NM_025144.4(ALPK1):c.3352-15A>G	not provided [RCV003019610]	likely benign	4	112439671	112439671	Human		name
402482876	CV2937516	single nucleotide variant	NM_025144.4(ALPK1):c.3035-17A>G	not provided [RCV003659805]	likely benign	4	112435131	112435131	Human		name
405118673	CV2957408	single nucleotide variant	NM_025144.4(ALPK1):c.3539-13A>G	not provided [RCV003667202]	likely benign	4	112440904	112440904	Human		name
405139200	CV2961792	single nucleotide variant	NM_025144.4(ALPK1):c.3352-12G>A	not provided [RCV003673078]	likely benign	4	112439674	112439674	Human		name
404979294	CV3009538	single nucleotide variant	NM_025144.4(ALPK1):c.3034+11T>A	not provided [RCV003690960]	likely benign	4	112432592	112432592	Human		name
404978859	CV3013168	single nucleotide variant	NM_025144.4(ALPK1):c.3188+16A>G	not provided [RCV003690864]	likely benign	4	112435317	112435317	Human		name
405122260	CV3020861	single nucleotide variant	NM_025144.4(ALPK1):c.3728-10C>G	not provided [RCV003700883]	uncertain significance	4	112441193	112441193	Human		name
405163120	CV3062768	single nucleotide variant	NM_025144.4(ALPK1):c.3539-10T>C	not provided [RCV003727239]	likely benign	4	112440907	112440907	Human		name
405095614	CV3119005	single nucleotide variant	NM_025144.4(ALPK1):c.3189-15T>G	not provided [RCV003811456]	likely benign	4	112438469	112438469	Human		name
405183281	CV3124050	single nucleotide variant	NM_025144.4(ALPK1):c.3352-16C>T	not provided [RCV003820246]	likely benign	4	112439670	112439670	Human		name
405185542	CV3124286	single nucleotide variant	NM_025144.4(ALPK1):c.3352-18C>T	not provided [RCV003820485]	likely benign	4	112439668	112439668	Human		name
405073352	CV3145490	single nucleotide variant	NM_025144.4(ALPK1):c.3351+11C>A	not provided [RCV003851075]	likely benign	4	112438657	112438657	Human		name
405222854	CV3154998	single nucleotide variant	NM_025144.4(ALPK1):c.3188+18T>C	not provided [RCV003847494]	likely benign	4	112435319	112435319	Human		name
405239320	CV3165887	single nucleotide variant	NM_025144.4(ALPK1):c.3188+18T>G	not provided [RCV003866899]	likely benign	4	112435319	112435319	Human		name
597894155	CV3809946	single nucleotide variant	NM_025144.4(ALPK1):c.3189-12C>T	not provided [RCV005151667]	likely benign	4	112438472	112438472	Human		name
597866514	CV3857815	single nucleotide variant	NM_025144.4(ALPK1):c.3351+20A>G	not provided [RCV005196762]	likely benign	4	112438666	112438666	Human		name
156175155	CV1874496	duplication	NM_025144.4(ALPK1):c.475+1_475+5dup	not provided [RCV003041157]	uncertain significance	4	112412024	112412025	Human		name
156122468	CV1998360	deletion	NM_025144.4(ALPK1):c.476-7_476-3del	not provided [RCV002662909]	likely benign	4	112423936	112423940	Human		name
405280057	CV3191605	duplication	NM_025144.4(ALPK1):c.623-5_623-4dup	ALPK1-related disorder [RCV003919749]	likely benign	4	112426453	112426454	Human		name , trait , alternate_id
8579043	CV113440	single nucleotide variant	NM_001102406.1(ALPK1):c.-49+20506A>T	Lung cancer [RCV000093963]	uncertain significance	4	112336358	112336358	Human		name
155951215	CV1921966	single nucleotide variant	NM_025144.4(ALPK1):c.84G>A (p.Val28=)	not provided [RCV002616233]	likely benign	4	112377861	112377861	Human		name
156396212	CV1980486	single nucleotide variant	NM_025144.4(ALPK1):c.87G>C (p.Ser29=)	not provided [RCV002605149]	likely benign	4	112377864	112377864	Human		name
156003705	CV2103487	single nucleotide variant	NM_025144.4(ALPK1):c.75G>A (p.Ala25=)	not provided [RCV002908754]	benign	4	112377852	112377852	Human		name
155940830	CV2119831	single nucleotide variant	NM_025144.4(ALPK1):c.87G>A (p.Ser29=)	not provided [RCV002971272]	likely benign	4	112377864	112377864	Human		name
155997707	CV2122681	single nucleotide variant	NM_025144.4(ALPK1):c.54G>A (p.Leu18=)	ALPK1-related disorder [RCV003961298]\|not provided [RCV002975031]	benign\|likely benign	4	112377831	112377831	Human	1	name , trait , alternate_id
405237480	CV2969924	insertion	NM_025144.4(ALPK1):c.623-10_623-9insC	not provided [RCV003683335]	likely benign	4	112426457	112426458	Human		name
405041089	CV3007472	single nucleotide variant	NM_025144.4(ALPK1):c.69G>A (p.Leu23=)	not provided [RCV003696328]	likely benign	4	112377846	112377846	Human		name
405212000	CV3142606	microsatellite	NM_025144.4(ALPK1):c.700-19_700-17del	not provided [RCV003845963]	likely benign	4	112427548	112427550	Human		name
156449051	CV1944304	single nucleotide variant	NM_025144.4(ALPK1):c.23C>A (p.Ala8Asp)	not provided [RCV003121162]	uncertain significance	4	112377800	112377800	Human		name
156266400	CV1973885	single nucleotide variant	NM_025144.4(ALPK1):c.258C>T (p.Ala86=)	not provided [RCV002597948]	likely benign	4	112382534	112382534	Human		name
156066023	CV1975421	single nucleotide variant	NM_025144.4(ALPK1):c.276G>C (p.Leu92=)	not provided [RCV002591130]	likely benign	4	112382552	112382552	Human		name
156021322	CV2019376	single nucleotide variant	NM_025144.4(ALPK1):c.135C>T (p.Ser45=)	not provided [RCV002691016]	likely benign	4	112382411	112382411	Human		name
155926620	CV2070866	single nucleotide variant	NM_025144.4(ALPK1):c.274C>T (p.Leu92=)	not provided [RCV002838559]	likely benign	4	112382550	112382550	Human		name
156230687	CV2112034	single nucleotide variant	NM_025144.4(ALPK1):c.102C>T (p.Ser34=)	not provided [RCV002918925]	likely benign	4	112377879	112377879	Human		name
156085830	CV2144945	single nucleotide variant	NM_025144.4(ALPK1):c.174G>A (p.Lys58=)	not provided [RCV003020505]	likely benign	4	112382450	112382450	Human		name
402501530	CV2869141	single nucleotide variant	NM_025144.4(ALPK1):c.144G>A (p.Arg48=)	not provided [RCV003545951]	likely benign	4	112382420	112382420	Human		name
405231319	CV3157378	single nucleotide variant	NM_025144.4(ALPK1):c.234A>C (p.Thr78=)	not provided [RCV003865328]	likely benign	4	112382510	112382510	Human		name
597964124	CV3754281	single nucleotide variant	NM_025144.4(ALPK1):c.183C>T (p.Phe61=)	not provided [RCV005082388]	likely benign	4	112382459	112382459	Human		name
597909277	CV3781985	single nucleotide variant	NM_025144.4(ALPK1):c.150G>T (p.Leu50=)	not provided [RCV005128477]	likely benign	4	112382426	112382426	Human		name
597942624	CV3815582	single nucleotide variant	NM_025144.4(ALPK1):c.291C>T (p.Ala97=)	not provided [RCV005159271]	likely benign	4	112411841	112411841	Human		name
597949883	CV3818859	single nucleotide variant	NM_025144.4(ALPK1):c.147C>A (p.Thr49=)	not provided [RCV005160929]	likely benign	4	112382423	112382423	Human		name
597901710	CV3845481	single nucleotide variant	NM_025144.4(ALPK1):c.213C>T (p.Ala71=)	not provided [RCV005181291]	likely benign	4	112382489	112382489	Human		name
155692917	CV1775274	single nucleotide variant	NM_025144.4(ALPK1):c.92A>C (p.Glu31Ala)	not provided [RCV002299412]	uncertain significance	4	112377869	112377869	Human		name
156319270	CV1876297	single nucleotide variant	NM_025144.4(ALPK1):c.756C>T (p.Asn252=)	not provided [RCV003062953]	likely benign	4	112427626	112427626	Human		name
156394189	CV1876324	single nucleotide variant	NM_025144.4(ALPK1):c.831C>T (p.Ser277=)	not provided [RCV003068390]	likely benign	4	112429184	112429184	Human		name
156362731	CV1905199	single nucleotide variant	NM_025144.4(ALPK1):c.68T>G (p.Leu23Trp)	not provided [RCV002602614]	uncertain significance	4	112377845	112377845	Human		name
156018588	CV1909298	single nucleotide variant	NM_025144.4(ALPK1):c.86C>T (p.Ser29Leu)	not provided [RCV002619275]	benign\|uncertain significance	4	112377863	112377863	Human		name
156268280	CV1915136	single nucleotide variant	NM_025144.4(ALPK1):c.74C>T (p.Ala25Val)	not provided [RCV002628004]	uncertain significance	4	112377851	112377851	Human		name
156409096	CV1922181	single nucleotide variant	NM_025144.4(ALPK1):c.879G>A (p.Pro293=)	not provided [RCV002607454]	likely benign	4	112429232	112429232	Human		name
156437343	CV1937483	single nucleotide variant	NM_025144.4(ALPK1):c.582G>A (p.Ser194=)	not provided [RCV003106877]	likely benign	4	112425711	112425711	Human		name
156449008	CV1944263	single nucleotide variant	NM_025144.4(ALPK1):c.582G>T (p.Ser194=)	not provided [RCV003121117]	uncertain significance	4	112425711	112425711	Human		name
156444946	CV1948998	single nucleotide variant	NM_025144.4(ALPK1):c.534G>A (p.Thr178=)	not provided [RCV003115880]	likely benign	4	112424002	112424002	Human		name
156300287	CV1955526	single nucleotide variant	NM_025144.4(ALPK1):c.714G>A (p.Ser238=)	not provided [RCV002578198]	likely benign	4	112427584	112427584	Human		name
156265495	CV1973851	single nucleotide variant	NM_025144.4(ALPK1):c.73G>A (p.Ala25Thr)	not provided [RCV002597921]	uncertain significance	4	112377850	112377850	Human		name
156395823	CV2012265	single nucleotide variant	NM_025144.4(ALPK1):c.612G>T (p.Leu204=)	not provided [RCV002725536]	likely benign	4	112425741	112425741	Human		name
156061698	CV2044880	single nucleotide variant	NM_025144.4(ALPK1):c.879G>T (p.Pro293=)	not provided [RCV002736860]	likely benign	4	112429232	112429232	Human		name
156066836	CV2054513	single nucleotide variant	NM_025144.4(ALPK1):c.465C>T (p.Ser155=)	not provided [RCV002797278]	likely benign	4	112412015	112412015	Human		name
156261611	CV2113764	single nucleotide variant	NM_025144.4(ALPK1):c.870C>T (p.Ala290=)	not provided [RCV002933902]	benign	4	112429223	112429223	Human		name
156120081	CV2115911	single nucleotide variant	NM_025144.4(ALPK1):c.489A>G (p.Lys163=)	not provided [RCV002927779]\|not specified [RCV005406538]	benign\|likely benign	4	112423957	112423957	Human		name
156246969	CV2119597	single nucleotide variant	NM_025144.4(ALPK1):c.32T>C (p.Leu11Pro)	ALPK1-related disorder [RCV003395551]\|Inborn genetic diseases [RCV002967079]\|not provided [RCV002959069]	uncertain significance	4	112377809	112377809	Human	2	name , trait , alternate_id
155937624	CV2125823	single nucleotide variant	NM_025144.4(ALPK1):c.699G>A (p.Lys233=)	not provided [RCV002971062]	uncertain significance	4	112426543	112426543	Human		name
156372463	CV2127640	single nucleotide variant	NM_025144.4(ALPK1):c.996T>C (p.Phe332=)	not provided [RCV002942445]	likely benign	4	112430543	112430543	Human		name
156163904	CV2137001	single nucleotide variant	NM_025144.4(ALPK1):c.885C>T (p.Phe295=)	not provided [RCV003005168]	benign	4	112429238	112429238	Human		name
156141330	CV2137929	single nucleotide variant	NM_025144.4(ALPK1):c.55G>A (p.Asp19Asn)	ALPK1-related disorder [RCV004750799]\|Inborn genetic diseases [RCV003170769]\|not provided [RCV002982324]	likely benign\|uncertain significance	4	112377832	112377832	Human	2	name , trait , alternate_id
155947223	CV2139535	single nucleotide variant	NM_025144.4(ALPK1):c.504G>A (p.Leu168=)	not provided [RCV002994415]	likely benign	4	112423972	112423972	Human		name
156145073	CV2190269	single nucleotide variant	NM_025144.4(ALPK1):c.690G>A (p.Pro230=)	not provided [RCV003056329]	uncertain significance	4	112426534	112426534	Human		name
405095223	CV2874649	single nucleotide variant	NM_025144.4(ALPK1):c.633C>T (p.Tyr211=)	not provided [RCV003550120]	likely benign	4	112426477	112426477	Human		name
405183618	CV2920272	single nucleotide variant	NM_025144.4(ALPK1):c.411G>A (p.Leu137=)	not provided [RCV003564235]	likely benign	4	112411961	112411961	Human		name
405144623	CV2942265	single nucleotide variant	NM_025144.4(ALPK1):c.363C>G (p.Leu121=)	not provided [RCV003669557]	likely benign	4	112411913	112411913	Human		name
405215585	CV2981692	single nucleotide variant	NM_025144.4(ALPK1):c.40T>C (p.Cys14Arg)	not provided [RCV003709273]	uncertain significance	4	112377817	112377817	Human		name
405239203	CV2983421	single nucleotide variant	NM_025144.4(ALPK1):c.99G>T (p.Lys33Asn)	not provided [RCV003683660]	uncertain significance	4	112377876	112377876	Human		name
405221483	CV3038569	single nucleotide variant	NM_025144.4(ALPK1):c.546G>A (p.Leu182=)	not provided [RCV003710037]	likely benign	4	112425675	112425675	Human		name
405245548	CV3051602	single nucleotide variant	NM_025144.4(ALPK1):c.876G>A (p.Thr292=)	not provided [RCV003720336]	likely benign	4	112429229	112429229	Human		name
405157946	CV3061507	single nucleotide variant	NM_025144.4(ALPK1):c.315G>A (p.Ala105=)	not provided [RCV003726892]	likely benign	4	112411865	112411865	Human		name
405044031	CV3074306	single nucleotide variant	NM_025144.4(ALPK1):c.915G>A (p.Thr305=)	not provided [RCV003740131]	likely benign	4	112430462	112430462	Human		name
405026688	CV3075985	single nucleotide variant	NM_025144.4(ALPK1):c.579G>A (p.Gln193=)	not provided [RCV003738838]	likely benign	4	112425708	112425708	Human		name
405177667	CV3119324	single nucleotide variant	NM_025144.4(ALPK1):c.802C>T (p.Leu268=)	not provided [RCV003819609]	likely benign	4	112429155	112429155	Human		name
404984300	CV3121702	single nucleotide variant	NM_025144.4(ALPK1):c.648A>G (p.Leu216=)	not provided [RCV003826501]	likely benign	4	112426492	112426492	Human		name
405139199	CV3130861	single nucleotide variant	NM_025144.4(ALPK1):c.435G>A (p.Pro145=)	not provided [RCV003839095]	likely benign	4	112411985	112411985	Human		name
405248425	CV3159241	single nucleotide variant	NM_025144.4(ALPK1):c.333G>T (p.Val111=)	not provided [RCV003869386]	likely benign	4	112411883	112411883	Human		name
405081171	CV3166830	single nucleotide variant	NM_025144.4(ALPK1):c.74C>G (p.Ala25Gly)	not provided [RCV003851604]	uncertain significance	4	112377851	112377851	Human		name
402503288	CV3171006	single nucleotide variant	NM_025144.4(ALPK1):c.958T>C (p.Leu320=)	not provided [RCV003878193]	likely benign	4	112430505	112430505	Human		name
405256027	CV3208577	single nucleotide variant	NM_025144.4(ALPK1):c.786A>G (p.Gln262=)	ALPK1-related disorder [RCV003939653]	likely benign	4	112427656	112427656	Human		name , trait , alternate_id
597898623	CV3740845	single nucleotide variant	NM_025144.4(ALPK1):c.939A>G (p.Ser313=)	not provided [RCV005072008]	likely benign	4	112430486	112430486	Human		name
597932587	CV3789831	single nucleotide variant	NM_025144.4(ALPK1):c.672T>C (p.Tyr224=)	not provided [RCV005131910]	likely benign	4	112426516	112426516	Human		name
597975718	CV3799314	single nucleotide variant	NM_025144.4(ALPK1):c.96C>A (p.Asp32Glu)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005365423]\|not provided [RCV005144710]	uncertain significance	4	112377873	112377873	Human	1	name
597910472	CV3806624	single nucleotide variant	NM_025144.4(ALPK1):c.91G>A (p.Glu31Lys)	not provided [RCV005154191]	uncertain significance	4	112377868	112377868	Human		name
597923720	CV3808549	single nucleotide variant	NM_025144.4(ALPK1):c.70G>A (p.Glu24Lys)	not provided [RCV005156063]	uncertain significance	4	112377847	112377847	Human		name
597927872	CV3816033	single nucleotide variant	NM_025144.4(ALPK1):c.300C>T (p.Leu100=)	not provided [RCV005156614]	likely benign	4	112411850	112411850	Human		name
597841711	CV3825570	single nucleotide variant	NM_025144.4(ALPK1):c.357T>C (p.Tyr119=)	not provided [RCV005172253]	likely benign	4	112411907	112411907	Human		name
597859407	CV3832864	single nucleotide variant	NM_025144.4(ALPK1):c.762T>C (p.Tyr254=)	not provided [RCV005174777]	likely benign	4	112427632	112427632	Human		name
597936864	CV3862590	single nucleotide variant	NM_025144.4(ALPK1):c.312T>C (p.Cys104=)	not provided [RCV005207862]	likely benign	4	112411862	112411862	Human		name
156395117	CV1877065	single nucleotide variant	NM_025144.4(ALPK1):c.2970T>C (p.Asp990=)	not provided [RCV003068506]	likely benign	4	112432517	112432517	Human		name
156340492	CV1902664	single nucleotide variant	NM_025144.4(ALPK1):c.2325C>T (p.Gly775=)	not provided [RCV003090334]	likely benign	4	112431872	112431872	Human		name
156075441	CV1904189	single nucleotide variant	NM_025144.4(ALPK1):c.2346C>A (p.Pro782=)	not provided [RCV002591401]	benign	4	112431893	112431893	Human		name
156212401	CV1914081	single nucleotide variant	NM_025144.4(ALPK1):c.1302C>T (p.Pro434=)	not provided [RCV002596116]	likely benign	4	112430849	112430849	Human		name
156197740	CV1916552	single nucleotide variant	NM_025144.4(ALPK1):c.1686C>T (p.Tyr562=)	not provided [RCV002595593]	benign	4	112431233	112431233	Human		name
156035551	CV1921345	single nucleotide variant	NM_025144.4(ALPK1):c.113G>A (p.Arg38His)	Inborn genetic diseases [RCV005353118]\|not provided [RCV002620035]	uncertain significance	4	112377890	112377890	Human	1	name
156410342	CV1932292	single nucleotide variant	NM_025144.4(ALPK1):c.1197G>A (p.Gln399=)	not provided [RCV002607835]	likely benign	4	112430744	112430744	Human		name
156444227	CV1937755	single nucleotide variant	NM_025144.4(ALPK1):c.2532C>T (p.Ile844=)	not provided [RCV003115150]	benign	4	112432079	112432079	Human		name
156443898	CV1941175	single nucleotide variant	NM_025144.4(ALPK1):c.1680G>A (p.Ser560=)	not provided [RCV003114810]	likely benign	4	112431227	112431227	Human		name
156440662	CV1943723	single nucleotide variant	NM_025144.4(ALPK1):c.157G>A (p.Glu53Lys)	not provided [RCV003110699]	uncertain significance	4	112382433	112382433	Human		name
156437523	CV1947529	single nucleotide variant	NM_025144.4(ALPK1):c.256G>C (p.Ala86Pro)	not provided [RCV003107062]	uncertain significance	4	112382532	112382532	Human		name
156124492	CV1953086	single nucleotide variant	NM_025144.4(ALPK1):c.2130T>C (p.Ser710=)	not provided [RCV002571992]	likely benign	4	112431677	112431677	Human		name
156328765	CV1953206	single nucleotide variant	NM_025144.4(ALPK1):c.1086C>T (p.Thr362=)	not provided [RCV002579876]	likely benign	4	112430633	112430633	Human		name
156320003	CV1966017	single nucleotide variant	NM_025144.4(ALPK1):c.2025G>A (p.Ser675=)	not provided [RCV002600168]	likely benign	4	112431572	112431572	Human		name
156332014	CV1966583	single nucleotide variant	NM_025144.4(ALPK1):c.1803C>T (p.His601=)	not provided [RCV002600847]	likely benign	4	112431350	112431350	Human		name
156238064	CV1973085	single nucleotide variant	NM_025144.4(ALPK1):c.2391T>C (p.Asp797=)	not provided [RCV002597051]	likely benign	4	112431938	112431938	Human		name
156179968	CV1978785	single nucleotide variant	NM_025144.4(ALPK1):c.241A>G (p.Lys81Glu)	not provided [RCV002595033]	uncertain significance	4	112382517	112382517	Human		name
155908490	CV1979936	single nucleotide variant	NM_025144.4(ALPK1):c.2565G>C (p.Gly855=)	not provided [RCV002613817]	likely benign	4	112432112	112432112	Human		name
156400222	CV1982227	single nucleotide variant	NM_025144.4(ALPK1):c.1533T>C (p.His511=)	not provided [RCV002635898]	likely benign	4	112431080	112431080	Human		name
156093452	CV1994498	single nucleotide variant	NM_025144.4(ALPK1):c.160G>A (p.Ala54Thr)	not provided [RCV002639304]	uncertain significance	4	112382436	112382436	Human		name
156351775	CV1997800	single nucleotide variant	NM_025144.4(ALPK1):c.1071T>G (p.Ala357=)	not provided [RCV002675645]	likely benign	4	112430618	112430618	Human		name
156365473	CV2020857	single nucleotide variant	NM_025144.4(ALPK1):c.2382C>T (p.Ser794=)	not provided [RCV002721154]	likely benign	4	112431929	112431929	Human		name
155936426	CV2045839	single nucleotide variant	NM_025144.4(ALPK1):c.2517C>T (p.Val839=)	not provided [RCV002751492]	likely benign	4	112432064	112432064	Human		name
156345502	CV2051848	single nucleotide variant	NM_025144.4(ALPK1):c.1119G>A (p.Gly373=)	not provided [RCV002811441]	benign	4	112430666	112430666	Human		name
156178948	CV2061315	deletion	NM_025144.4(ALPK1):c.348del (p.Phe117fs)	not provided [RCV002802196]	uncertain significance	4	112411897	112411897	Human		name
155987748	CV2094187	single nucleotide variant	NM_025144.4(ALPK1):c.1122G>A (p.Thr374=)	not provided [RCV002882241]	benign	4	112430669	112430669	Human		name
155992962	CV2095582	single nucleotide variant	NM_025144.4(ALPK1):c.2778A>G (p.Ser926=)	not provided [RCV002908249]	benign	4	112432325	112432325	Human		name
156108986	CV2096618	single nucleotide variant	NM_025144.4(ALPK1):c.1395G>A (p.Ser465=)	not provided [RCV002913700]	benign	4	112430942	112430942	Human		name
156007244	CV2099817	single nucleotide variant	NM_025144.4(ALPK1):c.2706C>T (p.Ser902=)	not provided [RCV002908914]	benign	4	112432253	112432253	Human		name
156098267	CV2103026	single nucleotide variant	NM_025144.4(ALPK1):c.2319C>T (p.Gly773=)	ALPK1-related disorder [RCV004750785]\|not provided [RCV002913303]	benign\|likely benign	4	112431866	112431866	Human	1	name , trait , alternate_id
156122800	CV2107755	single nucleotide variant	NM_025144.4(ALPK1):c.2295G>A (p.Gln765=)	not provided [RCV002914235]	benign	4	112431842	112431842	Human		name
156337620	CV2110307	single nucleotide variant	NM_025144.4(ALPK1):c.1809C>T (p.Asp603=)	not provided [RCV002938722]	benign	4	112431356	112431356	Human		name
156337638	CV2110308	single nucleotide variant	NM_025144.4(ALPK1):c.2523G>A (p.Glu841=)	not provided [RCV002938723]	benign	4	112432070	112432070	Human		name
155997333	CV2122659	single nucleotide variant	NM_025144.4(ALPK1):c.131C>T (p.Pro44Leu)	not provided [RCV002975014]	uncertain significance	4	112382407	112382407	Human		name
156141945	CV2125881	single nucleotide variant	NM_025144.4(ALPK1):c.2886G>A (p.Pro962=)	not provided [RCV002954264]	likely benign	4	112432433	112432433	Human		name
155902966	CV2127074	single nucleotide variant	NM_025144.4(ALPK1):c.136G>A (p.Glu46Lys)	not provided [RCV002967534]	uncertain significance	4	112382412	112382412	Human		name
156022162	CV2128660	single nucleotide variant	NM_025144.4(ALPK1):c.1350G>A (p.Gly450=)	not provided [RCV002948827]	benign	4	112430897	112430897	Human		name
156024129	CV2128791	single nucleotide variant	NM_025144.4(ALPK1):c.1944C>T (p.Leu648=)	not provided [RCV002948918]	likely benign	4	112431491	112431491	Human		name
156324359	CV2134402	single nucleotide variant	NM_025144.4(ALPK1):c.2640G>A (p.Pro880=)	not provided [RCV002963424]	likely benign	4	112432187	112432187	Human		name
155910552	CV2141555	single nucleotide variant	NM_025144.4(ALPK1):c.103G>A (p.Glu35Lys)	Inborn genetic diseases [RCV004983239]\|not provided [RCV002968015]	likely benign\|uncertain significance	4	112377880	112377880	Human	1	name
155963502	CV2142391	single nucleotide variant	NM_025144.4(ALPK1):c.2607C>T (p.His869=)	not provided [RCV002995272]	likely benign	4	112432154	112432154	Human		name
156196790	CV2159004	single nucleotide variant	NM_025144.4(ALPK1):c.2724A>T (p.Thr908=)	not provided [RCV003041832]	likely benign	4	112432271	112432271	Human		name
156354192	CV2190718	single nucleotide variant	NM_025144.4(ALPK1):c.2349C>T (p.Ser783=)	not provided [RCV003048564]	benign	4	112431896	112431896	Human		name
156052070	CV2238156	single nucleotide variant	NM_025144.4(ALPK1):c.259G>A (p.Gly87Arg)	Inborn genetic diseases [RCV002782080]	likely benign	4	112382535	112382535	Human	1	name
156335775	CV2333576	single nucleotide variant	NM_025144.4(ALPK1):c.256G>A (p.Ala86Thr)	Inborn genetic diseases [RCV002964712]\|not provided [RCV003778010]	uncertain significance	4	112382532	112382532	Human	1	name
401928393	CV2820111	single nucleotide variant	NM_025144.4(ALPK1):c.256G>T (p.Ala86Ser)	not provided [RCV003439464]	uncertain significance	4	112382532	112382532	Human		name
401928395	CV2820112	single nucleotide variant	NM_025144.4(ALPK1):c.1272C>T (p.Phe424=)	not provided [RCV003439465]	likely benign	4	112430819	112430819	Human		name
401923463	CV2820113	single nucleotide variant	NM_025144.4(ALPK1):c.1998G>A (p.Gln666=)	not provided [RCV003435133]	likely benign	4	112431545	112431545	Human		name
402482269	CV2860590	single nucleotide variant	NM_025144.4(ALPK1):c.1770T>C (p.Ser590=)	not provided [RCV003544148]	likely benign	4	112431317	112431317	Human		name
402492495	CV2863241	single nucleotide variant	NM_025144.4(ALPK1):c.1512T>C (p.Ser504=)	not provided [RCV003573155]	likely benign	4	112431059	112431059	Human		name
402474678	CV2863578	single nucleotide variant	NM_025144.4(ALPK1):c.2259C>A (p.Thr753=)	not provided [RCV003543171]	likely benign	4	112431806	112431806	Human		name
402495743	CV2875244	single nucleotide variant	NM_025144.4(ALPK1):c.130C>T (p.Pro44Ser)	Inborn genetic diseases [RCV005353193]\|not provided [RCV003545403]	uncertain significance	4	112382406	112382406	Human	1	name
405065779	CV2879150	single nucleotide variant	NM_025144.4(ALPK1):c.2991G>A (p.Glu997=)	not provided [RCV003548227]	likely benign	4	112432538	112432538	Human		name
402493448	CV2887081	single nucleotide variant	NM_025144.4(ALPK1):c.2118C>A (p.Pro706=)	not provided [RCV003573248]	likely benign	4	112431665	112431665	Human		name
405240491	CV2893027	single nucleotide variant	NM_025144.4(ALPK1):c.1122G>C (p.Thr374=)	not provided [RCV003557303]	likely benign	4	112430669	112430669	Human		name
405034875	CV2923413	single nucleotide variant	NM_025144.4(ALPK1):c.250A>G (p.Ile84Val)	not provided [RCV003578618]	uncertain significance	4	112382526	112382526	Human		name
405059634	CV2928923	single nucleotide variant	NM_025144.4(ALPK1):c.2103C>T (p.Val701=)	not provided [RCV003580284]	likely benign	4	112431650	112431650	Human		name
402515266	CV2936295	single nucleotide variant	NM_025144.4(ALPK1):c.1059C>T (p.Ser353=)	not provided [RCV003662896]	likely benign	4	112430606	112430606	Human		name
402517937	CV2936350	single nucleotide variant	NM_025144.4(ALPK1):c.2148A>G (p.Ser716=)	not provided [RCV003662933]	likely benign	4	112431695	112431695	Human		name
405144182	CV2942220	single nucleotide variant	NM_025144.4(ALPK1):c.1389T>C (p.His463=)	not provided [RCV003669523]	likely benign	4	112430936	112430936	Human		name
405100262	CV2944139	single nucleotide variant	NM_025144.4(ALPK1):c.2280G>A (p.Arg760=)	not provided [RCV003665682]	likely benign	4	112431827	112431827	Human		name
405121107	CV2953939	single nucleotide variant	NM_025144.4(ALPK1):c.1101G>A (p.Arg367=)	not provided [RCV003667457]	likely benign	4	112430648	112430648	Human		name
405173620	CV2955439	single nucleotide variant	NM_025144.4(ALPK1):c.2286G>T (p.Gly762=)	not provided [RCV003675637]	likely benign	4	112431833	112431833	Human		name
405221960	CV2966300	single nucleotide variant	NM_025144.4(ALPK1):c.2175T>C (p.Asp725=)	not provided [RCV003680804]	likely benign	4	112431722	112431722	Human		name
402491766	CV2981125	single nucleotide variant	NM_025144.4(ALPK1):c.1278T>C (p.Asn426=)	not provided [RCV003713845]	likely benign	4	112430825	112430825	Human		name
405216002	CV2981652	single nucleotide variant	NM_025144.4(ALPK1):c.280T>C (p.Ser94Pro)	not provided [RCV003709256]	uncertain significance	4	112411830	112411830	Human		name
405232172	CV2985234	single nucleotide variant	NM_025144.4(ALPK1):c.1323G>A (p.Leu441=)	not provided [RCV003711703]	likely benign	4	112430870	112430870	Human		name
404994015	CV2999631	single nucleotide variant	NM_025144.4(ALPK1):c.1815G>A (p.Arg605=)	not provided [RCV003692473]	likely benign	4	112431362	112431362	Human		name
402496581	CV3005897	single nucleotide variant	NM_025144.4(ALPK1):c.2589T>C (p.Val863=)	not provided [RCV003688071]	likely benign	4	112432136	112432136	Human		name
402501852	CV3010666	single nucleotide variant	NM_025144.4(ALPK1):c.2781C>T (p.Ser927=)	not provided [RCV003688579]	likely benign	4	112432328	112432328	Human		name
402498523	CV3015929	single nucleotide variant	NM_025144.4(ALPK1):c.1254T>C (p.His418=)	not provided [RCV003688252]	likely benign	4	112430801	112430801	Human		name
405135295	CV3018626	single nucleotide variant	NM_025144.4(ALPK1):c.138G>C (p.Glu46Asp)	not provided [RCV003702050]	uncertain significance	4	112382414	112382414	Human		name
405224292	CV3035768	single nucleotide variant	NM_025144.4(ALPK1):c.2937C>T (p.Asp979=)	not provided [RCV003710314]	likely benign	4	112432484	112432484	Human		name
402485367	CV3036849	single nucleotide variant	NM_025144.4(ALPK1):c.2292G>A (p.Glu764=)	not provided [RCV003713171]	likely benign	4	112431839	112431839	Human		name
405226820	CV3039487	single nucleotide variant	NM_025144.4(ALPK1):c.1368T>C (p.Leu456=)	not provided [RCV003710847]	likely benign	4	112430915	112430915	Human		name
405179912	CV3060509	single nucleotide variant	NM_025144.4(ALPK1):c.184G>A (p.Val62Met)	not provided [RCV003728676]	uncertain significance	4	112382460	112382460	Human		name
405049294	CV3080108	single nucleotide variant	NM_025144.4(ALPK1):c.1564C>T (p.Leu522=)	not provided [RCV003740477]	likely benign	4	112431111	112431111	Human		name
405204824	CV3116918	single nucleotide variant	NM_025144.4(ALPK1):c.2247G>A (p.Glu749=)	not provided [RCV003822402]	likely benign	4	112431794	112431794	Human		name
405192091	CV3118189	single nucleotide variant	NM_025144.4(ALPK1):c.1210C>T (p.Leu404=)	not provided [RCV003821099]	likely benign	4	112430757	112430757	Human		name
405113128	CV3118712	single nucleotide variant	NM_025144.4(ALPK1):c.2976G>A (p.Leu992=)	not provided [RCV003813940]	benign	4	112432523	112432523	Human		name
404996306	CV3123776	single nucleotide variant	NM_025144.4(ALPK1):c.1374C>T (p.Thr458=)	not provided [RCV003827682]	likely benign	4	112430921	112430921	Human		name
405205890	CV3144296	deletion	NM_025144.4(ALPK1):c.383del (p.Leu128fs)	not provided [RCV003845086]	uncertain significance	4	112411933	112411933	Human		name
405137822	CV3144741	single nucleotide variant	NM_025144.4(ALPK1):c.2754A>G (p.Leu918=)	not provided [RCV003855258]	likely benign	4	112432301	112432301	Human		name
405169275	CV3156902	single nucleotide variant	NM_025144.4(ALPK1):c.233C>A (p.Thr78Lys)	not provided [RCV003857606]	uncertain significance	4	112382509	112382509	Human		name
405239138	CV3165842	single nucleotide variant	NM_025144.4(ALPK1):c.2574C>T (p.Leu858=)	not provided [RCV003866854]	likely benign	4	112432121	112432121	Human		name
405088374	CV3167434	single nucleotide variant	NM_025144.4(ALPK1):c.223G>A (p.Glu75Lys)	not provided [RCV003852016]	uncertain significance	4	112382499	112382499	Human		name
405211501	CV3173474	single nucleotide variant	NM_025144.4(ALPK1):c.1311C>T (p.Phe437=)	not provided [RCV003862223]	likely benign	4	112430858	112430858	Human		name
404990950	CV3176264	single nucleotide variant	NM_025144.4(ALPK1):c.130C>A (p.Pro44Thr)	not provided [RCV003881589]	uncertain significance	4	112382406	112382406	Human		name
402490852	CV3182438	single nucleotide variant	NM_025144.4(ALPK1):c.2109T>C (p.Asn703=)	not provided [RCV003876924]	benign	4	112431656	112431656	Human		name
402494510	CV3182992	single nucleotide variant	NM_025144.4(ALPK1):c.136G>T (p.Glu46Ter)	not provided [RCV003877300]	uncertain significance	4	112382412	112382412	Human		name
404980285	CV3183337	single nucleotide variant	NM_025144.4(ALPK1):c.1125C>A (p.Val375=)	not provided [RCV003880360]	likely benign	4	112430672	112430672	Human		name
405806931	CV3264951	single nucleotide variant	NM_025144.4(ALPK1):c.278C>T (p.Ala93Val)	Inborn genetic diseases [RCV004406299]	uncertain significance	4	112411828	112411828	Human	1	name
597916229	CV3737363	single nucleotide variant	NM_025144.4(ALPK1):c.154C>T (p.Gln52Ter)	not provided [RCV005074152]	uncertain significance	4	112382430	112382430	Human		name
597898615	CV3740844	deletion	NM_025144.4(ALPK1):c.563del (p.Asp188fs)	not provided [RCV005072007]	likely benign	4	112425692	112425692	Human		name
597904082	CV3741598	single nucleotide variant	NM_025144.4(ALPK1):c.2451A>G (p.Pro817=)	not provided [RCV005072569]	likely benign	4	112431998	112431998	Human		name
597892539	CV3743854	single nucleotide variant	NM_025144.4(ALPK1):c.2881T>C (p.Leu961=)	not provided [RCV005071324]	likely benign	4	112432428	112432428	Human		name
597863042	CV3745263	single nucleotide variant	NM_025144.4(ALPK1):c.1719T>A (p.Ser573=)	not provided [RCV005067619]	likely benign	4	112431266	112431266	Human		name
597851586	CV3747026	single nucleotide variant	NM_025144.4(ALPK1):c.1542A>G (p.Arg514=)	not provided [RCV005060654]	likely benign	4	112431089	112431089	Human		name
597892037	CV3750101	single nucleotide variant	NM_025144.4(ALPK1):c.1755C>T (p.Asn585=)	not provided [RCV005071262]	likely benign	4	112431302	112431302	Human		name
597970276	CV3750198	single nucleotide variant	NM_025144.4(ALPK1):c.1645T>C (p.Leu549=)	not provided [RCV005084139]	likely benign	4	112431192	112431192	Human		name
597962832	CV3753795	single nucleotide variant	NM_025144.4(ALPK1):c.266A>G (p.Gln89Arg)	not provided [RCV005082099]	uncertain significance	4	112382542	112382542	Human		name
597889392	CV3762734	single nucleotide variant	NM_025144.4(ALPK1):c.2679C>T (p.Ser893=)	not provided [RCV005110507]	likely benign	4	112432226	112432226	Human		name
597952907	CV3776307	single nucleotide variant	NM_025144.4(ALPK1):c.1671T>G (p.Thr557=)	not provided [RCV005121435]	likely benign	4	112431218	112431218	Human		name
597914494	CV3778889	single nucleotide variant	NM_025144.4(ALPK1):c.1923G>A (p.Leu641=)	not provided [RCV005129234]	likely benign	4	112431470	112431470	Human		name
597882802	CV3784154	single nucleotide variant	NM_025144.4(ALPK1):c.1077C>T (p.Phe359=)	not provided [RCV005124442]	likely benign	4	112430624	112430624	Human		name
597948442	CV3800961	single nucleotide variant	NM_025144.4(ALPK1):c.1488A>G (p.Glu496=)	not provided [RCV005135361]	likely benign	4	112431035	112431035	Human		name
597887459	CV3804304	single nucleotide variant	NM_025144.4(ALPK1):c.1239C>T (p.Ala413=)	not provided [RCV005150755]	likely benign	4	112430786	112430786	Human		name
597891160	CV3805080	single nucleotide variant	NM_025144.4(ALPK1):c.217G>A (p.Gly73Ser)	not provided [RCV005151342]	uncertain significance	4	112382493	112382493	Human		name
597921964	CV3808112	single nucleotide variant	NM_025144.4(ALPK1):c.1497C>T (p.Asn499=)	not provided [RCV005155820]	likely benign	4	112431044	112431044	Human		name
597913878	CV3817451	single nucleotide variant	NM_025144.4(ALPK1):c.2133T>C (p.Ala711=)	not provided [RCV005154653]	likely benign	4	112431680	112431680	Human		name
597956709	CV3838290	single nucleotide variant	NM_025144.4(ALPK1):c.1845T>C (p.His615=)	not provided [RCV005191665]	likely benign	4	112431392	112431392	Human		name
597871518	CV3849335	single nucleotide variant	NM_025144.4(ALPK1):c.2721C>G (p.Thr907=)	not provided [RCV005197516]	likely benign	4	112432268	112432268	Human		name
597894742	CV3857235	single nucleotide variant	NM_025144.4(ALPK1):c.1089A>G (p.Thr363=)	not provided [RCV005201099]	likely benign	4	112430636	112430636	Human		name
597936803	CV3862472	single nucleotide variant	NM_025144.4(ALPK1):c.2565G>T (p.Gly855=)	not provided [RCV005207744]	likely benign	4	112432112	112432112	Human		name
598217824	CV3895401	single nucleotide variant	NM_025144.4(ALPK1):c.233C>G (p.Thr78Arg)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005360284]	uncertain significance	4	112382509	112382509	Human	1	name
598249332	CV3971828	single nucleotide variant	NM_025144.4(ALPK1):c.170T>C (p.Met57Thr)	Inborn genetic diseases [RCV005345571]	uncertain significance	4	112382446	112382446	Human	1	name
15177561	CV698340	single nucleotide variant	NM_025144.4(ALPK1):c.200A>G (p.Gln67Arg)	not provided [RCV000951072]	benign\|likely benign	4	112382476	112382476	Human		name
15187873	CV698341	single nucleotide variant	NM_025144.4(ALPK1):c.2655G>A (p.Ala885=)	not provided [RCV000953716]	benign\|likely benign	4	112432202	112432202	Human		name
15187082	CV764261	single nucleotide variant	NM_025144.4(ALPK1):c.1593C>T (p.Leu531=)	not provided [RCV000931552]	likely benign	4	112431140	112431140	Human		name
126731075	CV1000428	single nucleotide variant	NM_025144.4(ALPK1):c.638C>T (p.Ala213Val)	not provided [RCV001310495]	uncertain significance	4	112426482	112426482	Human		name
155748911	CV1772541	single nucleotide variant	NM_025144.4(ALPK1):c.523A>C (p.Asn175His)	not provided [RCV002304052]	uncertain significance	4	112423991	112423991	Human		name
155950764	CV1880099	single nucleotide variant	NM_025144.4(ALPK1):c.947G>C (p.Cys316Ser)	not provided [RCV003074138]	likely benign	4	112430494	112430494	Human		name
156325315	CV1891061	single nucleotide variant	NM_025144.4(ALPK1):c.630G>A (p.Trp210Ter)	not provided [RCV003089449]	likely benign	4	112426474	112426474	Human		name
156294956	CV1892324	single nucleotide variant	NM_025144.4(ALPK1):c.733A>G (p.Ile245Val)	Inborn genetic diseases [RCV004071718]\|not provided [RCV003061619]	benign\|uncertain significance	4	112427603	112427603	Human	1	name
156403864	CV1898035	single nucleotide variant	NM_025144.4(ALPK1):c.749G>A (p.Ser250Asn)	Inborn genetic diseases [RCV002610326]\|not provided [RCV002585295]	benign\|uncertain significance	4	112427619	112427619	Human	1	name
156215297	CV1903286	single nucleotide variant	NM_025144.4(ALPK1):c.3078G>A (p.Thr1026=)	not provided [RCV003084772]	benign	4	112435191	112435191	Human		name
156206059	CV1905918	single nucleotide variant	NM_025144.4(ALPK1):c.914C>T (p.Thr305Met)	Inborn genetic diseases [RCV004985183]\|not provided [RCV003084405]	uncertain significance	4	112430461	112430461	Human	1	name
156323555	CV1908326	single nucleotide variant	NM_025144.4(ALPK1):c.908G>A (p.Arg303His)	Inborn genetic diseases [RCV003250777]\|not provided [RCV002579406]	uncertain significance	4	112430455	112430455	Human	1	name
156301851	CV1933531	single nucleotide variant	NM_025144.4(ALPK1):c.3540T>C (p.Gly1180=)	not provided [RCV002629287]	likely benign	4	112440918	112440918	Human		name
156442036	CV1938009	single nucleotide variant	NM_025144.4(ALPK1):c.886G>A (p.Val296Met)	not provided [RCV003112373]	uncertain significance	4	112429239	112429239	Human		name
156438728	CV1947342	single nucleotide variant	NM_025144.4(ALPK1):c.374G>T (p.Gly125Val)	not provided [RCV003108674]	uncertain significance	4	112411924	112411924	Human		name
156234758	CV1952728	deletion	NM_025144.4(ALPK1):c.2221del (p.Glu741fs)	not provided [RCV002576011]	uncertain significance	4	112431768	112431768	Human		name
156123532	CV1952945	single nucleotide variant	NM_025144.4(ALPK1):c.557A>G (p.Glu186Gly)	Inborn genetic diseases [RCV004064331]\|not provided [RCV002571957]	uncertain significance	4	112425686	112425686	Human	1	name
156408873	CV1954551	single nucleotide variant	NM_025144.4(ALPK1):c.952C>A (p.Pro318Thr)	not provided [RCV002586642]	benign	4	112430499	112430499	Human		name
156229253	CV1959056	single nucleotide variant	NM_025144.4(ALPK1):c.907C>T (p.Arg303Cys)	not provided [RCV002596746]	uncertain significance	4	112430454	112430454	Human		name
156416152	CV1966495	duplication	NM_025144.4(ALPK1):c.1677dup (p.Ser560fs)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005025877]\|not provided [RCV002589554]	uncertain significance	4	112431223	112431224	Human	1	name
156417691	CV1967119	duplication	NM_025144.4(ALPK1):c.1363dup (p.Ile455fs)	not provided [RCV002590318]	uncertain significance	4	112430904	112430905	Human		name
156281538	CV1967951	single nucleotide variant	NM_025144.4(ALPK1):c.971A>T (p.His324Leu)	not provided [RCV002598410]	uncertain significance	4	112430518	112430518	Human		name
156145229	CV1973793	single nucleotide variant	NM_025144.4(ALPK1):c.574G>T (p.Val192Leu)	not provided [RCV002593965]	uncertain significance	4	112425703	112425703	Human		name
156261468	CV1977566	single nucleotide variant	NM_025144.4(ALPK1):c.343G>A (p.Asp115Asn)	Inborn genetic diseases [RCV004983028]\|not provided [RCV002597795]	uncertain significance	4	112411893	112411893	Human	1	name
156414431	CV1986653	single nucleotide variant	NM_025144.4(ALPK1):c.410T>C (p.Leu137Ser)	not provided [RCV002609197]	uncertain significance	4	112411960	112411960	Human		name
156265737	CV1993916	single nucleotide variant	NM_025144.4(ALPK1):c.872A>G (p.Tyr291Cys)	not provided [RCV002646367]	uncertain significance	4	112429225	112429225	Human		name
156060086	CV2008217	single nucleotide variant	NM_025144.4(ALPK1):c.340G>C (p.Val114Leu)	not provided [RCV002705355]	benign	4	112411890	112411890	Human		name
156395040	CV2015970	single nucleotide variant	NM_025144.4(ALPK1):c.3549C>T (p.Thr1183=)	not provided [RCV002725466]	likely benign	4	112440927	112440927	Human		name
156296012	CV2017057	single nucleotide variant	NM_025144.4(ALPK1):c.3444G>A (p.Val1148=)	not provided [RCV002715846]	likely benign	4	112439778	112439778	Human		name
156232061	CV2019817	single nucleotide variant	NM_025144.4(ALPK1):c.418G>A (p.Ala140Thr)	not provided [RCV002701398]	benign\|uncertain significance	4	112411968	112411968	Human		name
155962845	CV2037824	single nucleotide variant	NM_025144.4(ALPK1):c.992C>T (p.Ala331Val)	not provided [RCV002776354]	uncertain significance	4	112430539	112430539	Human		name
156012755	CV2039518	single nucleotide variant	NM_025144.4(ALPK1):c.3486C>A (p.Gly1162=)	not provided [RCV002756773]	likely benign	4	112439820	112439820	Human		name
156007625	CV2054415	deletion	NM_025144.4(ALPK1):c.2380del (p.Ser794fs)	not provided [RCV002819956]	uncertain significance	4	112431925	112431925	Human		name
156294750	CV2065249	single nucleotide variant	NM_025144.4(ALPK1):c.3435G>A (p.Thr1145=)	not provided [RCV002856893]	benign	4	112439769	112439769	Human		name
156208281	CV2074115	duplication	NM_025144.4(ALPK1):c.1988dup (p.Asn663fs)	not provided [RCV002829200]	uncertain significance	4	112431531	112431532	Human		name
155907630	CV2077460	single nucleotide variant	NM_025144.4(ALPK1):c.3192T>C (p.Tyr1064=)	not provided [RCV002858253]	likely benign	4	112438487	112438487	Human		name
156099220	CV2087912	single nucleotide variant	NM_025144.4(ALPK1):c.3084G>A (p.Gln1028=)	not provided [RCV002848018]	likely benign	4	112435197	112435197	Human		name
155985001	CV2094766	single nucleotide variant	NM_025144.4(ALPK1):c.959T>G (p.Leu320Trp)	Inborn genetic diseases [RCV004983169]\|not provided [RCV002907881]	uncertain significance	4	112430506	112430506	Human	1	name
156206783	CV2103780	single nucleotide variant	NM_025144.4(ALPK1):c.878C>A (p.Pro293Gln)	ALPK1-related disorder [RCV003943561]\|not provided [RCV002931896]	benign\|likely benign	4	112429231	112429231	Human	1	name , trait , alternate_id
156120107	CV2115912	duplication	NM_025144.4(ALPK1):c.2994dup (p.Thr999fs)	not provided [RCV002927780]	likely benign	4	112432540	112432541	Human		name
156134486	CV2118916	single nucleotide variant	NM_025144.4(ALPK1):c.3597C>T (p.Ser1199=)	not provided [RCV002953999]	likely benign	4	112440975	112440975	Human		name
156011383	CV2122927	single nucleotide variant	NM_025144.4(ALPK1):c.875C>T (p.Thr292Met)	not provided [RCV002975666]	likely benign	4	112429228	112429228	Human		name
156137751	CV2129135	single nucleotide variant	NM_025144.4(ALPK1):c.3348A>G (p.Leu1116=)	not provided [RCV002954111]	likely benign	4	112438643	112438643	Human		name
155958094	CV2138084	single nucleotide variant	NM_025144.4(ALPK1):c.692A>G (p.Asp231Gly)	ALPK1-related disorder [RCV003963529]\|Inborn genetic diseases [RCV002979198]\|not provided [RCV002972238]	likely benign\|uncertain significance	4	112426536	112426536	Human	2	name , trait , alternate_id
156020385	CV2141228	single nucleotide variant	NM_025144.4(ALPK1):c.3270C>T (p.His1090=)	not provided [RCV002976125]	likely benign	4	112438565	112438565	Human		name
156190476	CV2145009	single nucleotide variant	NM_025144.4(ALPK1):c.575T>G (p.Val192Gly)	not provided [RCV003005986]	uncertain significance	4	112425704	112425704	Human		name
156100924	CV2164348	single nucleotide variant	NM_025144.4(ALPK1):c.392C>G (p.Ala131Gly)	not provided [RCV003038581]	uncertain significance	4	112411942	112411942	Human		name
156300147	CV2170059	single nucleotide variant	NM_025144.4(ALPK1):c.457C>G (p.Arg153Gly)	not provided [RCV003045512]	uncertain significance	4	112412007	112412007	Human		name
156236349	CV2173392	single nucleotide variant	NM_025144.4(ALPK1):c.431C>T (p.Ala144Val)	not provided [RCV003059499]	uncertain significance	4	112411981	112411981	Human		name
156200160	CV2182779	single nucleotide variant	NM_025144.4(ALPK1):c.523A>G (p.Asn175Asp)	not provided [RCV003024422]	benign	4	112423991	112423991	Human		name
156200195	CV2182781	single nucleotide variant	NM_025144.4(ALPK1):c.561T>G (p.Ser187Arg)	not provided [RCV003024423]	benign	4	112425690	112425690	Human		name
156321895	CV2182787	single nucleotide variant	NM_025144.4(ALPK1):c.3252A>G (p.Arg1084=)	not provided [RCV003046665]	benign	4	112438547	112438547	Human		name
156083716	CV2184338	single nucleotide variant	NM_025144.4(ALPK1):c.3651C>T (p.Phe1217=)	not provided [RCV003054119]	likely benign	4	112441029	112441029	Human		name
156034287	CV2211749	single nucleotide variant	NM_025144.4(ALPK1):c.461T>C (p.Ile154Thr)	Inborn genetic diseases [RCV002691806]\|not provided [RCV005099532]	likely benign\|uncertain significance	4	112412011	112412011	Human	1	name
155947800	CV2262799	single nucleotide variant	NM_025144.4(ALPK1):c.478A>C (p.Lys160Gln)	Inborn genetic diseases [RCV002840032]	uncertain significance	4	112423946	112423946	Human	1	name
156067245	CV2270825	single nucleotide variant	NM_025144.4(ALPK1):c.835G>T (p.Ala279Ser)	Inborn genetic diseases [RCV002823247]	uncertain significance	4	112429188	112429188	Human	1	name
156049691	CV2391104	single nucleotide variant	NM_025144.4(ALPK1):c.355T>C (p.Tyr119His)	Inborn genetic diseases [RCV002759271]\|not provided [RCV005059446]	uncertain significance	4	112411905	112411905	Human	1	name
329366650	CV2441781	single nucleotide variant	NM_025144.4(ALPK1):c.885C>A (p.Phe295Leu)	Inborn genetic diseases [RCV003207870]\|not provided [RCV003730456]	uncertain significance	4	112429238	112429238	Human	1	name
329395702	CV2454475	single nucleotide variant	NM_025144.4(ALPK1):c.449G>C (p.Arg150Pro)	Inborn genetic diseases [RCV003194548]	uncertain significance	4	112411999	112411999	Human	1	name
401828190	CV2742905	single nucleotide variant	NM_025144.4(ALPK1):c.761A>G (p.Tyr254Cys)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003325431]	pathogenic	4	112427631	112427631	Human	1	name
401914399	CV2830680	single nucleotide variant	NM_025144.4(ALPK1):c.382C>G (p.Leu128Val)	not provided [RCV003442418]	uncertain significance	4	112411932	112411932	Human		name
402485024	CV2855094	single nucleotide variant	NM_025144.4(ALPK1):c.785A>C (p.Gln262Pro)	not provided [RCV003544319]	uncertain significance	4	112427655	112427655	Human		name
402518642	CV2870895	single nucleotide variant	NM_025144.4(ALPK1):c.3139A>C (p.Arg1047=)	not provided [RCV003547589]	likely benign	4	112435252	112435252	Human		name
405065092	CV2878909	single nucleotide variant	NM_025144.4(ALPK1):c.860C>T (p.Ala287Val)	not provided [RCV003548105]	uncertain significance	4	112429213	112429213	Human		name
405223172	CV2891277	single nucleotide variant	NM_025144.4(ALPK1):c.581C>T (p.Ser194Leu)	Inborn genetic diseases [RCV005335795]\|not provided [RCV003554232]	uncertain significance	4	112425710	112425710	Human	1	name
405220340	CV2904217	single nucleotide variant	NM_025144.4(ALPK1):c.713C>T (p.Ser238Leu)	not provided [RCV003568334]	uncertain significance	4	112427583	112427583	Human		name
405058183	CV2928914	single nucleotide variant	NM_025144.4(ALPK1):c.686A>G (p.Gln229Arg)	not provided [RCV003580276]	uncertain significance	4	112426530	112426530	Human		name
402488636	CV2941612	single nucleotide variant	NM_025144.4(ALPK1):c.797G>A (p.Ser266Asn)	not provided [RCV003660328]	uncertain significance	4	112429150	112429150	Human		name
405076840	CV2948674	single nucleotide variant	NM_025144.4(ALPK1):c.872A>T (p.Tyr291Phe)	not provided [RCV003664312]	uncertain significance	4	112429225	112429225	Human		name
405121118	CV2953940	single nucleotide variant	NM_025144.4(ALPK1):c.463T>C (p.Ser155Pro)	not provided [RCV003667458]	uncertain significance	4	112412013	112412013	Human		name
405122391	CV2954105	single nucleotide variant	NM_025144.4(ALPK1):c.431C>A (p.Ala144Asp)	not provided [RCV003667559]	uncertain significance	4	112411981	112411981	Human		name
405241276	CV2970719	single nucleotide variant	NM_025144.4(ALPK1):c.411G>T (p.Leu137Phe)	not provided [RCV003684094]	uncertain significance	4	112411961	112411961	Human		name
405239912	CV2993543	single nucleotide variant	NM_025144.4(ALPK1):c.3330C>T (p.Tyr1110=)	not provided [RCV003718980]	likely benign	4	112438625	112438625	Human		name
402484513	CV3002062	single nucleotide variant	NM_025144.4(ALPK1):c.3633G>A (p.Lys1211=)	not provided [RCV003686928]	likely benign	4	112441011	112441011	Human		name
405076868	CV3008023	single nucleotide variant	NM_025144.4(ALPK1):c.3474C>G (p.Gly1158=)	not provided [RCV003716810]	likely benign	4	112439808	112439808	Human		name
405170686	CV3029186	single nucleotide variant	NM_025144.4(ALPK1):c.648A>T (p.Leu216Phe)	not provided [RCV003704546]	uncertain significance	4	112426492	112426492	Human		name
402483250	CV3036655	single nucleotide variant	NM_025144.4(ALPK1):c.3033T>C (p.His1011=)	not provided [RCV003713060]	uncertain significance	4	112432580	112432580	Human		name
405206310	CV3041968	deletion	NM_025144.4(ALPK1):c.1727del (p.Gly576fs)	not provided [RCV003708049]	uncertain significance	4	112431273	112431273	Human		name
405090127	CV3044743	single nucleotide variant	NM_025144.4(ALPK1):c.304C>G (p.Arg102Gly)	not provided [RCV003717759]	uncertain significance	4	112411854	112411854	Human		name
405139166	CV3045388	deletion	NM_025144.4(ALPK1):c.1704del (p.Val569fs)	not provided [RCV003725498]	uncertain significance	4	112431251	112431251	Human		name
405244944	CV3054831	single nucleotide variant	NM_025144.4(ALPK1):c.398G>A (p.Gly133Asp)	not provided [RCV003720140]	uncertain significance	4	112411948	112411948	Human		name
405166794	CV3059762	single nucleotide variant	NM_025144.4(ALPK1):c.751A>T (p.Lys251Ter)	not provided [RCV003727512]	uncertain significance	4	112427621	112427621	Human		name
405209900	CV3061964	single nucleotide variant	NM_025144.4(ALPK1):c.806A>G (p.Lys269Arg)	Inborn genetic diseases [RCV004985573]\|not provided [RCV003731747]	uncertain significance	4	112429159	112429159	Human	1	name
405226934	CV3069446	single nucleotide variant	NM_025144.4(ALPK1):c.3342A>G (p.Thr1114=)	not provided [RCV003734214]	likely benign	4	112438637	112438637	Human		name
405176314	CV3119295	deletion	NM_025144.4(ALPK1):c.2413del (p.Val805fs)	not provided [RCV003819580]	uncertain significance	4	112431958	112431958	Human		name
405207406	CV3120416	single nucleotide variant	NM_025144.4(ALPK1):c.3261C>T (p.Thr1087=)	not provided [RCV003822750]	likely benign	4	112438556	112438556	Human		name
405183138	CV3124036	single nucleotide variant	NM_025144.4(ALPK1):c.364G>C (p.Asp122His)	not provided [RCV003820232]	uncertain significance	4	112411914	112411914	Human		name
405137660	CV3125392	single nucleotide variant	NM_025144.4(ALPK1):c.689C>T (p.Pro230Leu)	Inborn genetic diseases [RCV005353293]\|not provided [RCV003816499]	uncertain significance	4	112426533	112426533	Human	1	name
405133022	CV3130146	single nucleotide variant	NM_025144.4(ALPK1):c.3528C>T (p.Val1176=)	not provided [RCV003838569]	likely benign	4	112439862	112439862	Human		name
405110836	CV3133112	single nucleotide variant	NM_025144.4(ALPK1):c.305G>A (p.Arg102Gln)	not provided [RCV003836098]	uncertain significance	4	112411855	112411855	Human		name
405053458	CV3138378	single nucleotide variant	NM_025144.4(ALPK1):c.898G>A (p.Val300Met)	not provided [RCV003832222]	uncertain significance	4	112429251	112429251	Human		name
405021725	CV3139264	single nucleotide variant	NM_025144.4(ALPK1):c.821A>G (p.His274Arg)	not provided [RCV003829907]	uncertain significance	4	112429174	112429174	Human		name
405205087	CV3144140	single nucleotide variant	NM_025144.4(ALPK1):c.3363C>T (p.Asp1121=)	not provided [RCV003844930]	likely benign	4	112439697	112439697	Human		name
405231873	CV3157485	single nucleotide variant	NM_025144.4(ALPK1):c.929A>G (p.Tyr310Cys)	Inborn genetic diseases [RCV004634394]\|not provided [RCV003865435]	uncertain significance	4	112430476	112430476	Human	1	name
405093472	CV3164151	single nucleotide variant	NM_025144.4(ALPK1):c.307G>T (p.Asp103Tyr)	not provided [RCV003852466]	uncertain significance	4	112411857	112411857	Human		name
405204092	CV3165194	single nucleotide variant	NM_025144.4(ALPK1):c.304C>T (p.Arg102Trp)	not provided [RCV003861055]	uncertain significance	4	112411854	112411854	Human		name
405235370	CV3166267	single nucleotide variant	NM_025144.4(ALPK1):c.746T>C (p.Met249Thr)	not provided [RCV003853716]	uncertain significance	4	112427616	112427616	Human		name
405196841	CV3168122	single nucleotide variant	NM_025144.4(ALPK1):c.700G>A (p.Gly234Ser)	not provided [RCV003860254]	uncertain significance	4	112427570	112427570	Human		name
405700669	CV3224976	deletion	NM_025144.4(ALPK1):c.2653del (p.Ala885fs)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003989260]	uncertain significance	4	112432198	112432198	Human	1	name
405806990	CV3264981	single nucleotide variant	NM_025144.4(ALPK1):c.328A>C (p.Ile110Leu)	Inborn genetic diseases [RCV004406329]	uncertain significance	4	112411878	112411878	Human	1	name
405807038	CV3265004	single nucleotide variant	NM_025144.4(ALPK1):c.593A>G (p.Gln198Arg)	Inborn genetic diseases [RCV004406352]	uncertain significance	4	112425722	112425722	Human	1	name
405807051	CV3265010	single nucleotide variant	NM_025144.4(ALPK1):c.992C>A (p.Ala331Asp)	Inborn genetic diseases [RCV004406358]	uncertain significance	4	112430539	112430539	Human	1	name
407524003	CV3455857	single nucleotide variant	NM_025144.4(ALPK1):c.700G>C (p.Gly234Arg)	Inborn genetic diseases [RCV004631245]	uncertain significance	4	112427570	112427570	Human	1	name
408381515	CV3526390	single nucleotide variant	NM_025144.4(ALPK1):c.830C>T (p.Ser277Phe)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV004771834]	likely pathogenic	4	112429183	112429183	Human	1	name
597908126	CV3738985	single nucleotide variant	NM_025144.4(ALPK1):c.3312T>A (p.Ile1104=)	not provided [RCV005073220]	likely benign	4	112438607	112438607	Human		name
597883618	CV3741311	single nucleotide variant	NM_025144.4(ALPK1):c.323C>T (p.Ala108Val)	not provided [RCV005070218]	uncertain significance	4	112411873	112411873	Human		name
597928666	CV3749165	single nucleotide variant	NM_025144.4(ALPK1):c.651A>G (p.Ile217Met)	not provided [RCV005075621]	uncertain significance	4	112426495	112426495	Human		name
597933691	CV3750349	single nucleotide variant	NM_025144.4(ALPK1):c.457C>T (p.Arg153Ter)	not provided [RCV005076274]	uncertain significance	4	112412007	112412007	Human		name
597840963	CV3752718	single nucleotide variant	NM_025144.4(ALPK1):c.3339C>T (p.Ser1113=)	not provided [RCV005086447]	likely benign	4	112438634	112438634	Human		name
597948510	CV3759175	single nucleotide variant	NM_025144.4(ALPK1):c.991G>A (p.Ala331Thr)	not provided [RCV005078972]	uncertain significance	4	112430538	112430538	Human		name
597969025	CV3761297	deletion	NM_025144.4(ALPK1):c.1368del (p.Asp457fs)	not provided [RCV005083684]	uncertain significance	4	112430914	112430914	Human		name
597906039	CV3773026	single nucleotide variant	NM_025144.4(ALPK1):c.3339C>G (p.Ser1113=)	not provided [RCV005113090]	likely benign	4	112438634	112438634	Human		name
597922873	CV3777803	single nucleotide variant	NM_025144.4(ALPK1):c.325G>T (p.Ala109Ser)	not provided [RCV005130527]	uncertain significance	4	112411875	112411875	Human		name
597926546	CV3778510	single nucleotide variant	NM_025144.4(ALPK1):c.449G>T (p.Arg150Leu)	not provided [RCV005131033]	uncertain significance	4	112411999	112411999	Human		name
597882909	CV3784171	deletion	NM_025144.4(ALPK1):c.2612del (p.Ser871fs)	not provided [RCV005124459]	uncertain significance	4	112432159	112432159	Human		name
597903919	CV3784560	single nucleotide variant	NM_025144.4(ALPK1):c.439G>A (p.Val147Met)	not provided [RCV005127611]	uncertain significance	4	112411989	112411989	Human		name
597918427	CV3789731	single nucleotide variant	NM_025144.4(ALPK1):c.794T>C (p.Leu265Ser)	not provided [RCV005129826]	uncertain significance	4	112427664	112427664	Human		name
597904261	CV3793252	single nucleotide variant	NM_025144.4(ALPK1):c.842C>G (p.Ala281Gly)	not provided [RCV005153220]	uncertain significance	4	112429195	112429195	Human		name
597962110	CV3795367	single nucleotide variant	NM_025144.4(ALPK1):c.602G>A (p.Gly201Glu)	not provided [RCV005139059]	uncertain significance	4	112425731	112425731	Human		name
597945616	CV3807376	single nucleotide variant	NM_025144.4(ALPK1):c.397G>A (p.Gly133Ser)	not provided [RCV005160011]	uncertain significance	4	112411947	112411947	Human		name
597947546	CV3817828	single nucleotide variant	NM_025144.4(ALPK1):c.757G>A (p.Asp253Asn)	not provided [RCV005160295]	uncertain significance	4	112427627	112427627	Human		name
597941522	CV3819322	single nucleotide variant	NM_025144.4(ALPK1):c.3132C>G (p.Gly1044=)	not provided [RCV005159132]	likely benign	4	112435245	112435245	Human		name
597969287	CV3821456	single nucleotide variant	NM_025144.4(ALPK1):c.3300T>C (p.Tyr1100=)	not provided [RCV005166098]	likely benign	4	112438595	112438595	Human		name
597931606	CV3827125	single nucleotide variant	NM_025144.4(ALPK1):c.359G>A (p.Gly120Glu)	not provided [RCV005157138]	uncertain significance	4	112411909	112411909	Human		name
597965283	CV3827625	single nucleotide variant	NM_025144.4(ALPK1):c.414G>C (p.Gln138His)	not provided [RCV005164880]	uncertain significance	4	112411964	112411964	Human		name
597976273	CV3829295	single nucleotide variant	NM_025144.4(ALPK1):c.3369A>T (p.Thr1123=)	not provided [RCV005169744]	likely benign	4	112439703	112439703	Human		name
597972057	CV3829456	single nucleotide variant	NM_025144.4(ALPK1):c.499A>G (p.Ile167Val)	not provided [RCV005167243]	uncertain significance	4	112423967	112423967	Human		name
597974253	CV3831183	single nucleotide variant	NM_025144.4(ALPK1):c.298C>A (p.Leu100Ile)	not provided [RCV005168321]	uncertain significance	4	112411848	112411848	Human		name
597859532	CV3832882	single nucleotide variant	NM_025144.4(ALPK1):c.3117T>G (p.Thr1039=)	not provided [RCV005174795]	likely benign	4	112435230	112435230	Human		name
597959810	CV3843465	single nucleotide variant	NM_025144.4(ALPK1):c.662T>A (p.Ile221Asn)	not provided [RCV005192501]	uncertain significance	4	112426506	112426506	Human		name
597959931	CV3843500	single nucleotide variant	NM_025144.4(ALPK1):c.341T>G (p.Val114Gly)	not provided [RCV005192537]	uncertain significance	4	112411891	112411891	Human		name
597872177	CV3849448	single nucleotide variant	NM_025144.4(ALPK1):c.985A>G (p.Lys329Glu)	not provided [RCV005197629]	uncertain significance	4	112430532	112430532	Human		name
597898782	CV3854591	single nucleotide variant	NM_025144.4(ALPK1):c.3207T>C (p.Tyr1069=)	not provided [RCV005201698]	likely benign	4	112438502	112438502	Human		name
597923183	CV3862925	single nucleotide variant	NM_025144.4(ALPK1):c.3378A>G (p.Gly1126=)	not provided [RCV005205413]	likely benign	4	112439712	112439712	Human		name
598191746	CV3971727	single nucleotide variant	NM_025144.4(ALPK1):c.378A>T (p.Lys126Asn)	Inborn genetic diseases [RCV005354339]	uncertain significance	4	112411928	112411928	Human	1	name
598192424	CV3971858	single nucleotide variant	NM_025144.4(ALPK1):c.470A>T (p.Asn157Ile)	Inborn genetic diseases [RCV005354442]	uncertain significance	4	112412020	112412020	Human	1	name
598205252	CV3971875	single nucleotide variant	NM_025144.4(ALPK1):c.543G>T (p.Trp181Cys)	Inborn genetic diseases [RCV005337581]	uncertain significance	4	112425672	112425672	Human	1	name
598190606	CV4008858	single nucleotide variant	NM_025144.4(ALPK1):c.749G>C (p.Ser250Thr)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005396357]	uncertain significance	4	112427619	112427619	Human	1	name
617153783	CV4016871	single nucleotide variant	NM_025144.4(ALPK1):c.536G>A (p.Gly179Asp)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005415963]	uncertain significance	4	112425665	112425665	Human	1	name
14399860	CV610429	single nucleotide variant	NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)	ALPK1-related disorder [RCV003947961]\|Inborn genetic diseases [RCV004629319]\|Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV001263103]\|not provided [RCV001389989]	pathogenic\|likely pathogenic	4	112427580	112427580	Human	2	name , trait , alternate_id
150332118	CV1169017	single nucleotide variant	NM_025144.4(ALPK1):c.1925A>G (p.His642Arg)	not provided [RCV001536759]	benign	4	112431472	112431472	Human		name
150461065	CV1234730	single nucleotide variant	NM_025144.4(ALPK1):c.2196G>A (p.Met732Ile)	not provided [RCV001649312]	benign	4	112431743	112431743	Human		name
150492304	CV1253907	single nucleotide variant	NM_025144.4(ALPK1):c.1694G>A (p.Gly565Asp)	not provided [RCV001675003]	benign	4	112431241	112431241	Human		name
150495381	CV1272618	single nucleotide variant	NM_025144.4(ALPK1):c.2582T>C (p.Met861Thr)	not provided [RCV001688541]	benign	4	112432129	112432129	Human		name
155748826	CV1772421	single nucleotide variant	NM_025144.4(ALPK1):c.2029C>T (p.His677Tyr)	not provided [RCV002303958]	uncertain significance	4	112431576	112431576	Human		name
155734384	CV1774392	single nucleotide variant	NM_025144.4(ALPK1):c.1913T>C (p.Met638Thr)	not provided [RCV002301848]	uncertain significance	4	112431460	112431460	Human		name
155735315	CV1774456	single nucleotide variant	NM_025144.4(ALPK1):c.2380A>C (p.Ser794Arg)	not provided [RCV002301912]	uncertain significance	4	112431927	112431927	Human		name
155737593	CV1774586	single nucleotide variant	NM_025144.4(ALPK1):c.1234A>G (p.Ile412Val)	not provided [RCV002302042]	uncertain significance	4	112430781	112430781	Human		name
155749249	CV1778017	single nucleotide variant	NM_025144.4(ALPK1):c.1612A>C (p.Asn538His)	not provided [RCV002304454]	uncertain significance	4	112431159	112431159	Human		name
156280211	CV1877021	single nucleotide variant	NM_025144.4(ALPK1):c.2533G>A (p.Asp845Asn)	not provided [RCV003061036]	benign	4	112432080	112432080	Human		name
155950858	CV1880106	single nucleotide variant	NM_025144.4(ALPK1):c.2320G>A (p.Ala774Thr)	Inborn genetic diseases [RCV004985140]\|not provided [RCV003074143]	likely benign\|uncertain significance	4	112431867	112431867	Human	1	name
156238929	CV1882312	single nucleotide variant	NM_025144.4(ALPK1):c.2009C>T (p.Pro670Leu)	not provided [RCV003085668]	uncertain significance	4	112431556	112431556	Human		name
156331226	CV1884429	single nucleotide variant	NM_025144.4(ALPK1):c.1614C>G (p.Asn538Lys)	Inborn genetic diseases [RCV003089811]\|not provided [RCV003089810]	uncertain significance	4	112431161	112431161	Human	1	name
156286533	CV1884865	single nucleotide variant	NM_025144.4(ALPK1):c.1978C>T (p.Pro660Ser)	not provided [RCV003061268]	uncertain significance	4	112431525	112431525	Human		name
156047180	CV1887556	single nucleotide variant	NM_025144.4(ALPK1):c.2066G>A (p.Gly689Glu)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005356272]\|not provided [RCV003078742]	likely benign	4	112431613	112431613	Human	1	name
156285278	CV1897076	single nucleotide variant	NM_025144.4(ALPK1):c.2056C>T (p.Pro686Ser)	not provided [RCV003087263]	uncertain significance	4	112431603	112431603	Human		name
156181495	CV1898030	single nucleotide variant	NM_025144.4(ALPK1):c.2246A>C (p.Glu749Ala)	not provided [RCV002595076]	uncertain significance	4	112431793	112431793	Human		name
156404693	CV1898367	single nucleotide variant	NM_025144.4(ALPK1):c.2101G>A (p.Val701Ile)	Inborn genetic diseases [RCV002585467]\|not provided [RCV002585466]	uncertain significance	4	112431648	112431648	Human	1	name
156335301	CV1905959	single nucleotide variant	NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)	not provided [RCV003090032]\|not specified [RCV003331431]	benign\|uncertain significance	4	112432251	112432251	Human		name
156414702	CV1909095	single nucleotide variant	NM_025144.4(ALPK1):c.2707G>A (p.Glu903Lys)	Inborn genetic diseases [RCV004634182]\|not provided [RCV002588759]	likely benign\|uncertain significance	4	112432254	112432254	Human	1	name
156019794	CV1909414	single nucleotide variant	NM_025144.4(ALPK1):c.1024G>C (p.Asp342His)	not provided [RCV002619335]	uncertain significance	4	112430571	112430571	Human		name
155959048	CV1911966	single nucleotide variant	NM_025144.4(ALPK1):c.2455A>G (p.Ser819Gly)	not provided [RCV002616640]	uncertain significance	4	112432002	112432002	Human		name
155939128	CV1913438	single nucleotide variant	NM_025144.4(ALPK1):c.1225A>G (p.Met409Val)	Inborn genetic diseases [RCV004985222]\|not provided [RCV002615512]	uncertain significance	4	112430772	112430772	Human	1	name
156020269	CV1915055	single nucleotide variant	NM_025144.4(ALPK1):c.2554G>A (p.Asp852Asn)	Inborn genetic diseases [RCV002636674]\|not provided [RCV002606981]	uncertain significance	4	112432101	112432101	Human	1	name
156369119	CV1919964	single nucleotide variant	NM_025144.4(ALPK1):c.1985A>T (p.Gln662Leu)	not provided [RCV002603038]	uncertain significance	4	112431532	112431532	Human		name
156035686	CV1921352	single nucleotide variant	NM_025144.4(ALPK1):c.2587G>A (p.Val863Ile)	Inborn genetic diseases [RCV004634188]\|not provided [RCV002620041]	benign\|uncertain significance	4	112432134	112432134	Human	1	name
156370966	CV1923536	single nucleotide variant	NM_025144.4(ALPK1):c.1633T>C (p.Phe545Leu)	Inborn genetic diseases [RCV004985251]\|not provided [RCV002633378]	likely benign\|uncertain significance	4	112431180	112431180	Human	1	name
156292501	CV1926041	single nucleotide variant	NM_025144.4(ALPK1):c.2153G>A (p.Arg718His)	Inborn genetic diseases [RCV004070678]\|not provided [RCV002647257]	uncertain significance	4	112431700	112431700	Human	1	name
155962679	CV1931687	single nucleotide variant	NM_025144.4(ALPK1):c.2252C>A (p.Pro751Gln)	not provided [RCV002616810]	uncertain significance	4	112431799	112431799	Human		name
156147309	CV1932272	single nucleotide variant	NM_025144.4(ALPK1):c.2858C>T (p.Ser953Phe)	Inborn genetic diseases [RCV004070658]\|not provided [RCV002623880]	uncertain significance	4	112432405	112432405	Human	1	name
156188606	CV1933981	single nucleotide variant	NM_025144.4(ALPK1):c.1875G>T (p.Leu625Phe)	Inborn genetic diseases [RCV002625287]\|not provided [RCV002625286]	uncertain significance	4	112431422	112431422	Human	1	name
156444226	CV1937754	single nucleotide variant	NM_025144.4(ALPK1):c.1912A>G (p.Met638Val)	Inborn genetic diseases [RCV004244595]\|not provided [RCV003115149]	likely benign	4	112431459	112431459	Human	1	name
156448455	CV1950734	single nucleotide variant	NM_025144.4(ALPK1):c.1312G>A (p.Glu438Lys)	not provided [RCV003120017]	uncertain significance	4	112430859	112430859	Human		name
156448478	CV1950760	single nucleotide variant	NM_025144.4(ALPK1):c.2503A>C (p.Ser835Arg)	not provided [RCV003120040]	likely benign\|uncertain significance	4	112432050	112432050	Human		name
156331483	CV1954129	single nucleotide variant	NM_025144.4(ALPK1):c.2731G>C (p.Gly911Arg)	not provided [RCV002580024]	uncertain significance	4	112432278	112432278	Human		name
156261105	CV1960649	single nucleotide variant	NM_025144.4(ALPK1):c.2956G>A (p.Gly986Arg)	not provided [RCV002576849]	uncertain significance	4	112432503	112432503	Human		name
156354866	CV1962310	single nucleotide variant	NM_025144.4(ALPK1):c.2159C>T (p.Ala720Val)	not provided [RCV002581320]	uncertain significance	4	112431706	112431706	Human		name
156090927	CV1963181	single nucleotide variant	NM_025144.4(ALPK1):c.2639C>T (p.Pro880Leu)	Inborn genetic diseases [RCV004983000]\|not provided [RCV002570220]	likely benign\|uncertain significance	4	112432186	112432186	Human	1	name
156397281	CV1965689	single nucleotide variant	NM_025144.4(ALPK1):c.1835G>T (p.Gly612Val)	not provided [RCV002584503]	uncertain significance	4	112431382	112431382	Human		name
156318909	CV1965906	single nucleotide variant	NM_025144.4(ALPK1):c.2518G>A (p.Ala840Thr)	Inborn genetic diseases [RCV004983016]\|not provided [RCV002600108]	likely benign\|uncertain significance	4	112432065	112432065	Human	1	name
156283709	CV1968092	single nucleotide variant	NM_025144.4(ALPK1):c.1743T>A (p.Ser581Arg)	not provided [RCV002598479]	benign	4	112431290	112431290	Human		name
156412252	CV1969409	single nucleotide variant	NM_025144.4(ALPK1):c.1034T>C (p.Val345Ala)	not provided [RCV002587758]	uncertain significance	4	112430581	112430581	Human		name
156250120	CV1969711	single nucleotide variant	NM_025144.4(ALPK1):c.2918G>T (p.Arg973Leu)	not provided [RCV002597442]	uncertain significance	4	112432465	112432465	Human		name
156417288	CV1970307	single nucleotide variant	NM_025144.4(ALPK1):c.1323G>C (p.Leu441Phe)	not provided [RCV002590111]	uncertain significance	4	112430870	112430870	Human		name
156007832	CV1981329	single nucleotide variant	NM_025144.4(ALPK1):c.1465T>G (p.Cys489Gly)	not provided [RCV002618750]	uncertain significance	4	112431012	112431012	Human		name
156327137	CV1982228	single nucleotide variant	NM_025144.4(ALPK1):c.1542A>C (p.Arg514Ser)	Inborn genetic diseases [RCV005350983]\|not provided [RCV002649620]	uncertain significance	4	112431089	112431089	Human	1	name
156234609	CV1982366	single nucleotide variant	NM_025144.4(ALPK1):c.2326C>A (p.Pro776Thr)	not provided [RCV002626922]	uncertain significance	4	112431873	112431873	Human		name
156001472	CV1987198	single nucleotide variant	NM_025144.4(ALPK1):c.1830G>T (p.Glu610Asp)	not provided [RCV002618468]	uncertain significance	4	112431377	112431377	Human		name
155919738	CV1991127	single nucleotide variant	NM_025144.4(ALPK1):c.2989G>C (p.Glu997Gln)	not provided [RCV002614494]	uncertain significance	4	112432536	112432536	Human		name
156237590	CV1992411	single nucleotide variant	NM_025144.4(ALPK1):c.2380A>G (p.Ser794Gly)	not provided [RCV002627023]	uncertain significance	4	112431927	112431927	Human		name
156293248	CV1998397	single nucleotide variant	NM_025144.4(ALPK1):c.1928C>T (p.Ser643Leu)	not provided [RCV002670852]	uncertain significance	4	112431475	112431475	Human		name
156112104	CV1998555	single nucleotide variant	NM_025144.4(ALPK1):c.1562C>T (p.Ser521Phe)	not provided [RCV002639982]\|not specified [RCV005239484]	likely benign\|uncertain significance	4	112431109	112431109	Human		name
156394232	CV1998841	single nucleotide variant	NM_025144.4(ALPK1):c.2090G>A (p.Gly697Asp)	not provided [RCV002681078]	uncertain significance	4	112431637	112431637	Human		name
156181262	CV2001378	single nucleotide variant	NM_025144.4(ALPK1):c.2883G>T (p.Leu961Phe)	not provided [RCV002643030]	uncertain significance	4	112432430	112432430	Human		name
156026842	CV2004640	single nucleotide variant	NM_025144.4(ALPK1):c.1804G>A (p.Val602Ile)	not provided [RCV002658491]	uncertain significance	4	112431351	112431351	Human		name
156221903	CV2005741	single nucleotide variant	NM_025144.4(ALPK1):c.1758A>T (p.Leu586Phe)	not provided [RCV002667260]	uncertain significance	4	112431305	112431305	Human		name
156088146	CV2007422	single nucleotide variant	NM_025144.4(ALPK1):c.1020A>T (p.Arg340Ser)	not provided [RCV002694844]	uncertain significance	4	112430567	112430567	Human		name
156368469	CV2007512	single nucleotide variant	NM_025144.4(ALPK1):c.2654C>T (p.Ala885Val)	not provided [RCV002676730]	uncertain significance	4	112432201	112432201	Human		name
156101461	CV2009801	single nucleotide variant	NM_025144.4(ALPK1):c.1369G>A (p.Asp457Asn)	Inborn genetic diseases [RCV002706685]\|not provided [RCV002706684]	uncertain significance	4	112430916	112430916	Human	1	name
156303918	CV2013613	single nucleotide variant	NM_025144.4(ALPK1):c.1093C>T (p.His365Tyr)	not provided [RCV002716187]	uncertain significance	4	112430640	112430640	Human		name
156299971	CV2017266	single nucleotide variant	NM_025144.4(ALPK1):c.1787A>T (p.Glu596Val)	not provided [RCV002716014]	uncertain significance	4	112431334	112431334	Human		name
156018261	CV2020533	single nucleotide variant	NM_025144.4(ALPK1):c.2542G>T (p.Ala848Ser)	not provided [RCV002735249]	uncertain significance	4	112432089	112432089	Human		name
156115582	CV2020713	single nucleotide variant	NM_025144.4(ALPK1):c.1594A>G (p.Arg532Gly)	not provided [RCV002739997]	uncertain significance	4	112431141	112431141	Human		name
156126826	CV2031281	single nucleotide variant	NM_025144.4(ALPK1):c.1904G>A (p.Gly635Asp)	not provided [RCV002740414]	likely benign\|uncertain significance	4	112431451	112431451	Human		name
156197992	CV2034571	single nucleotide variant	NM_025144.4(ALPK1):c.1831C>A (p.Pro611Thr)	Inborn genetic diseases [RCV002766131]\|not provided [RCV002766132]	uncertain significance	4	112431378	112431378	Human	1	name
156011166	CV2035482	single nucleotide variant	NM_025144.4(ALPK1):c.2080G>C (p.Ala694Pro)	not provided [RCV002795108]	uncertain significance	4	112431627	112431627	Human		name
156012828	CV2035792	single nucleotide variant	NM_025144.4(ALPK1):c.2437A>G (p.Ile813Val)	not provided [RCV002795193]	uncertain significance	4	112431984	112431984	Human		name
156129962	CV2036512	single nucleotide variant	NM_025144.4(ALPK1):c.2660C>T (p.Thr887Ile)	Inborn genetic diseases [RCV005343492]\|not provided [RCV002786130]	benign\|uncertain significance	4	112432207	112432207	Human	1	name
156345526	CV2051849	single nucleotide variant	NM_025144.4(ALPK1):c.1372A>G (p.Thr458Ala)	not provided [RCV002811442]	benign	4	112430919	112430919	Human		name
156345549	CV2051851	single nucleotide variant	NM_025144.4(ALPK1):c.2129C>T (p.Ser710Phe)	not provided [RCV002811443]	benign	4	112431676	112431676	Human		name
156188259	CV2052187	single nucleotide variant	NM_025144.4(ALPK1):c.2620C>G (p.Leu874Val)	not provided [RCV002828528]	uncertain significance	4	112432167	112432167	Human		name
155994668	CV2060050	single nucleotide variant	NM_025144.4(ALPK1):c.1576A>G (p.Asn526Asp)	not provided [RCV002819365]	uncertain significance	4	112431123	112431123	Human		name
156296646	CV2073531	single nucleotide variant	NM_025144.4(ALPK1):c.1127A>G (p.His376Arg)	not provided [RCV002833430]	uncertain significance	4	112430674	112430674	Human		name
156201410	CV2080339	single nucleotide variant	NM_025144.4(ALPK1):c.2980C>T (p.Gln994Ter)	not provided [RCV002852480]	likely benign	4	112432527	112432527	Human		name
156022174	CV2082892	single nucleotide variant	NM_025144.4(ALPK1):c.2973G>A (p.Trp991Ter)	not provided [RCV002885010]	uncertain significance	4	112432520	112432520	Human		name
156079578	CV2083623	single nucleotide variant	NM_025144.4(ALPK1):c.2662C>G (p.Pro888Ala)	not provided [RCV002847339]	benign	4	112432209	112432209	Human		name
156091674	CV2093126	single nucleotide variant	NM_025144.4(ALPK1):c.2917C>T (p.Arg973Cys)	Inborn genetic diseases [RCV003348932]\|not provided [RCV002926703]	benign\|uncertain significance	4	112432464	112432464	Human	1	name
156186398	CV2098807	single nucleotide variant	NM_025144.4(ALPK1):c.2329A>G (p.Thr777Ala)	not provided [RCV002917310]	uncertain significance	4	112431876	112431876	Human		name
156101720	CV2099299	single nucleotide variant	NM_025144.4(ALPK1):c.2042G>A (p.Gly681Asp)	not provided [RCV002913429]	benign	4	112431589	112431589	Human		name
156095438	CV2102887	single nucleotide variant	NM_025144.4(ALPK1):c.2608G>A (p.Gly870Ser)	not provided [RCV002913197]	benign	4	112432155	112432155	Human		name
156095470	CV2102888	single nucleotide variant	NM_025144.4(ALPK1):c.2730A>C (p.Glu910Asp)	not provided [RCV002913198]	benign	4	112432277	112432277	Human		name
156095535	CV2102890	single nucleotide variant	NM_025144.4(ALPK1):c.2746A>G (p.Asn916Asp)	not provided [RCV002913200]	benign	4	112432293	112432293	Human		name
156102376	CV2103614	single nucleotide variant	NM_025144.4(ALPK1):c.2266G>A (p.Asp756Asn)	not provided [RCV002927096]	uncertain significance	4	112431813	112431813	Human		name
156205457	CV2103683	single nucleotide variant	NM_025144.4(ALPK1):c.2771C>G (p.Ser924Cys)	Inborn genetic diseases [RCV003167935]\|not provided [RCV002931845]	likely benign\|uncertain significance	4	112432318	112432318	Human	1	name
156002994	CV2106877	single nucleotide variant	NM_025144.4(ALPK1):c.1979C>T (p.Pro660Leu)	not provided [RCV002947878]	benign	4	112431526	112431526	Human		name
156314257	CV2107817	single nucleotide variant	NM_025144.4(ALPK1):c.2296G>C (p.Gly766Arg)	not provided [RCV002937348]	benign	4	112431843	112431843	Human		name
156239522	CV2109077	single nucleotide variant	NM_025144.4(ALPK1):c.2904G>C (p.Glu968Asp)	ALPK1-related disorder [RCV003963439]\|not provided [RCV002933149]	likely benign	4	112432451	112432451	Human	1	name , trait , alternate_id
156141845	CV2109975	single nucleotide variant	NM_025144.4(ALPK1):c.2885C>T (p.Pro962Leu)	not provided [RCV002928584]	benign	4	112432432	112432432	Human		name
156134347	CV2113218	single nucleotide variant	NM_025144.4(ALPK1):c.1147A>G (p.Lys383Glu)	not provided [RCV002928322]	benign\|likely benign	4	112430694	112430694	Human		name
156134716	CV2113244	single nucleotide variant	NM_025144.4(ALPK1):c.1785G>A (p.Trp595Ter)	not provided [RCV002928335]	benign	4	112431332	112431332	Human		name
156212190	CV2114525	single nucleotide variant	NM_025144.4(ALPK1):c.1569G>A (p.Met523Ile)	ALPK1-related disorder [RCV003906313]\|not provided [RCV002932108]	benign\|likely benign	4	112431116	112431116	Human	1	name , trait , alternate_id
156119198	CV2115867	single nucleotide variant	NM_025144.4(ALPK1):c.1941T>G (p.Asp647Glu)	not provided [RCV002927744]	benign	4	112431488	112431488	Human		name
156023456	CV2115973	single nucleotide variant	NM_025144.4(ALPK1):c.1810G>A (p.Asp604Asn)	Inborn genetic diseases [RCV002909724]\|not provided [RCV002927831]	uncertain significance	4	112431357	112431357	Human	1	name
155940847	CV2119832	single nucleotide variant	NM_025144.4(ALPK1):c.1511G>A (p.Ser504Asn)	not provided [RCV002971273]	benign	4	112431058	112431058	Human		name
156131993	CV2121638	single nucleotide variant	NM_025144.4(ALPK1):c.2996C>T (p.Thr999Met)	not provided [RCV002953913]	likely benign\|uncertain significance	4	112432543	112432543	Human		name
156350456	CV2122142	single nucleotide variant	NM_025144.4(ALPK1):c.2252C>T (p.Pro751Leu)	not provided [RCV002966258]	benign\|likely benign	4	112431799	112431799	Human		name
156360093	CV2126385	single nucleotide variant	NM_025144.4(ALPK1):c.1101G>C (p.Arg367Ser)	not provided [RCV002966925]	uncertain significance	4	112430648	112430648	Human		name
156005247	CV2126534	single nucleotide variant	NM_025144.4(ALPK1):c.1894G>C (p.Asp632His)	ALPK1-related disorder [RCV003916679]\|not provided [RCV002975374]	benign\|likely benign	4	112431441	112431441	Human	1	name , trait , alternate_id
155902547	CV2127046	single nucleotide variant	NM_025144.4(ALPK1):c.1826A>G (p.Lys609Arg)	not provided [RCV002967512]	uncertain significance	4	112431373	112431373	Human		name
156007373	CV2127471	single nucleotide variant	NM_025144.4(ALPK1):c.1250A>T (p.Glu417Val)	Inborn genetic diseases [RCV003269338]\|not provided [RCV002948081]	benign\|uncertain significance	4	112430797	112430797	Human	1	name
156034335	CV2128021	single nucleotide variant	NM_025144.4(ALPK1):c.2918G>A (p.Arg973His)	not provided [RCV002923652]	uncertain significance	4	112432465	112432465	Human		name
156025130	CV2128877	single nucleotide variant	NM_025144.4(ALPK1):c.2453G>A (p.Cys818Tyr)	Inborn genetic diseases [RCV002933977]\|not provided [RCV002948966]	benign\|likely benign	4	112432000	112432000	Human	1	name
155931999	CV2129210	single nucleotide variant	NM_025144.4(ALPK1):c.2533G>C (p.Asp845His)	not provided [RCV002970681]	benign	4	112432080	112432080	Human		name
156240301	CV2129565	single nucleotide variant	NM_025144.4(ALPK1):c.1106A>T (p.His369Leu)	ALPK1-related disorder [RCV004750796]\|not provided [RCV002958843]	benign\|likely benign	4	112430653	112430653	Human	1	name , trait , alternate_id
156366359	CV2130673	single nucleotide variant	NM_025144.4(ALPK1):c.1752C>A (p.Ser584Arg)	not provided [RCV002967337]	uncertain significance	4	112431299	112431299	Human		name
155937504	CV2135097	single nucleotide variant	NM_025144.4(ALPK1):c.2819G>T (p.Gly940Val)	not provided [RCV002993836]	benign	4	112432366	112432366	Human		name
156270709	CV2135303	single nucleotide variant	NM_025144.4(ALPK1):c.1491A>G (p.Ile497Met)	Inborn genetic diseases [RCV002988812]\|not provided [RCV002988813]	uncertain significance	4	112431038	112431038	Human	1	name
155958306	CV2138107	single nucleotide variant	NM_025144.4(ALPK1):c.1376A>G (p.Tyr459Cys)	not provided [RCV002972250]	uncertain significance	4	112430923	112430923	Human		name
155954578	CV2143873	single nucleotide variant	NM_025144.4(ALPK1):c.2412G>C (p.Arg804Ser)	Inborn genetic diseases [RCV002994821]\|not provided [RCV002994822]	uncertain significance	4	112431959	112431959	Human	1	name
155968458	CV2152362	single nucleotide variant	NM_025144.4(ALPK1):c.2339C>G (p.Ala780Gly)	not provided [RCV003015818]	benign	4	112431886	112431886	Human		name
156249206	CV2156232	single nucleotide variant	NM_025144.4(ALPK1):c.2888G>A (p.Gly963Glu)	not provided [RCV003008383]	uncertain significance	4	112432435	112432435	Human		name
155988697	CV2159948	single nucleotide variant	NM_025144.4(ALPK1):c.1688G>A (p.Ser563Asn)	not provided [RCV003034224]	uncertain significance	4	112431235	112431235	Human		name
156200992	CV2169881	single nucleotide variant	NM_025144.4(ALPK1):c.2225A>C (p.Glu742Ala)	not provided [RCV003041968]	uncertain significance	4	112431772	112431772	Human		name
156112717	CV2171795	single nucleotide variant	NM_025144.4(ALPK1):c.2722A>G (p.Thr908Ala)	not provided [RCV003039011]	uncertain significance	4	112432269	112432269	Human		name
156077389	CV2173574	single nucleotide variant	NM_025144.4(ALPK1):c.1804G>C (p.Val602Leu)	not provided [RCV003053910]	uncertain significance	4	112431351	112431351	Human		name
156348152	CV2191420	deletion	NM_025144.4(ALPK1):c.3006del (p.Phe1002fs)	not provided [RCV003048130]	uncertain significance	4	112432549	112432549	Human		name
156397572	CV2197265	single nucleotide variant	NM_025144.4(ALPK1):c.1044A>C (p.Lys348Asn)	Inborn genetic diseases [RCV002655180]\|not provided [RCV005099459]	uncertain significance	4	112430591	112430591	Human	1	name
156140183	CV2202958	single nucleotide variant	NM_025144.4(ALPK1):c.1136G>A (p.Ser379Asn)	Inborn genetic diseases [RCV002641226]\|not provided [RCV003561064]	uncertain significance	4	112430683	112430683	Human	1	name
155929353	CV2224535	single nucleotide variant	NM_025144.4(ALPK1):c.1544A>T (p.Asp515Val)	Inborn genetic diseases [RCV002728536]	uncertain significance	4	112431091	112431091	Human	1	name
156102440	CV2260418	single nucleotide variant	NM_025144.4(ALPK1):c.1978C>G (p.Pro660Ala)	Inborn genetic diseases [RCV002799211]\|not provided [RCV003777785]	uncertain significance	4	112431525	112431525	Human	1	name
156113455	CV2263799	single nucleotide variant	NM_025144.4(ALPK1):c.1739C>G (p.Ser580Cys)	Inborn genetic diseases [RCV002848594]	uncertain significance	4	112431286	112431286	Human	1	name
156162253	CV2272671	single nucleotide variant	NM_025144.4(ALPK1):c.2914G>A (p.Ala972Thr)	Inborn genetic diseases [RCV002827458]	uncertain significance	4	112432461	112432461	Human	1	name
156281436	CV2295114	single nucleotide variant	NM_025144.4(ALPK1):c.2065G>C (p.Gly689Arg)	Inborn genetic diseases [RCV002896541]	uncertain significance	4	112431612	112431612	Human	1	name
155952304	CV2306069	single nucleotide variant	NM_025144.4(ALPK1):c.2948T>C (p.Leu983Pro)	Inborn genetic diseases [RCV002905210]	uncertain significance	4	112432495	112432495	Human	1	name
156300288	CV2322420	single nucleotide variant	NM_025144.4(ALPK1):c.1120A>G (p.Thr374Ala)	Inborn genetic diseases [RCV002936306]\|not provided [RCV003777988]	likely benign\|uncertain significance	4	112430667	112430667	Human	1	name
156301314	CV2322719	single nucleotide variant	NM_025144.4(ALPK1):c.1201A>G (p.Arg401Gly)	Inborn genetic diseases [RCV002936387]	uncertain significance	4	112430748	112430748	Human	1	name
156188534	CV2346844	single nucleotide variant	NM_025144.4(ALPK1):c.1311C>G (p.Phe437Leu)	Inborn genetic diseases [RCV002984473]\|not provided [RCV003575015]\|not specified [RCV005419585]	likely benign\|uncertain significance	4	112430858	112430858	Human	1	name
156080438	CV2384640	single nucleotide variant	NM_025144.4(ALPK1):c.2177C>G (p.Ser726Cys)	Inborn genetic diseases [RCV002694484]\|not provided [RCV003778590]	likely benign\|uncertain significance	4	112431724	112431724	Human	1	name
156391048	CV2385052	single nucleotide variant	NM_025144.4(ALPK1):c.2198G>T (p.Gly733Val)	Inborn genetic diseases [RCV002724753]	uncertain significance	4	112431745	112431745	Human	1	name
243063894	CV2405420	duplication	NM_025144.4(ALPK1):c.3069dup (p.Leu1024fs)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV003225908]	uncertain significance	4	112435180	112435181	Human	1	name
329952909	CV2670248	single nucleotide variant	NM_025144.4(ALPK1):c.1152A>C (p.Glu384Asp)	not provided [RCV003233458]	uncertain significance	4	112430699	112430699	Human		name
401745642	CV2695411	single nucleotide variant	NM_025144.4(ALPK1):c.2206C>T (p.Pro736Ser)	Inborn genetic diseases [RCV003275545]\|not provided [RCV003561277]	uncertain significance	4	112431753	112431753	Human	1	name
401780444	CV2716772	single nucleotide variant	NM_025144.4(ALPK1):c.1258C>A (p.Gln420Lys)	Inborn genetic diseases [RCV003288032]	uncertain significance	4	112430805	112430805	Human	1	name
401887905	CV2768829	single nucleotide variant	NM_025144.4(ALPK1):c.1525A>G (p.Lys509Glu)	Inborn genetic diseases [RCV003352642]	uncertain significance	4	112431072	112431072	Human	1	name
401885557	CV2778145	single nucleotide variant	NM_025144.4(ALPK1):c.2954C>T (p.Ala985Val)	Inborn genetic diseases [RCV003351679]\|not provided [RCV003720866]	likely benign\|uncertain significance	4	112432501	112432501	Human	1	name
401892932	CV2791946	single nucleotide variant	NM_025144.4(ALPK1):c.1579G>A (p.Val527Ile)	Inborn genetic diseases [RCV003370444]	uncertain significance	4	112431126	112431126	Human	1	name
401912167	CV2796074	single nucleotide variant	NM_025144.4(ALPK1):c.1810G>T (p.Asp604Tyr)	ALPK1-related disorder [RCV003399770]	uncertain significance	4	112431357	112431357	Human		name , trait , alternate_id
401912845	CV2830031	single nucleotide variant	NM_025144.4(ALPK1):c.2833G>C (p.Asp945His)	not provided [RCV003441245]	uncertain significance	4	112432380	112432380	Human		name
405043933	CV2859632	single nucleotide variant	NM_025144.4(ALPK1):c.1079G>A (p.Gly360Asp)	not provided [RCV003579264]	uncertain significance	4	112430626	112430626	Human		name
405065664	CV2879143	single nucleotide variant	NM_025144.4(ALPK1):c.1091T>C (p.Val364Ala)	not provided [RCV003548221]	uncertain significance	4	112430638	112430638	Human		name
405223740	CV2887594	single nucleotide variant	NM_025144.4(ALPK1):c.1394C>T (p.Ser465Leu)	not provided [RCV003554314]	uncertain significance	4	112430941	112430941	Human		name
405236258	CV2887888	single nucleotide variant	NM_025144.4(ALPK1):c.2728G>A (p.Glu910Lys)	not provided [RCV003556443]	uncertain significance	4	112432275	112432275	Human		name
405222414	CV2891010	single nucleotide variant	NM_025144.4(ALPK1):c.2183G>A (p.Arg728Lys)	not provided [RCV003554129]	uncertain significance	4	112431730	112431730	Human		name
405231539	CV2895836	single nucleotide variant	NM_025144.4(ALPK1):c.1600G>A (p.Gly534Arg)	not provided [RCV003555604]	uncertain significance	4	112431147	112431147	Human		name
405113114	CV2900456	single nucleotide variant	NM_025144.4(ALPK1):c.1568T>C (p.Met523Thr)	Inborn genetic diseases [RCV004369343]\|not provided [RCV003558059]	likely benign\|uncertain significance	4	112431115	112431115	Human	1	name
405219904	CV2904098	single nucleotide variant	NM_025144.4(ALPK1):c.1030C>T (p.Pro344Ser)	not provided [RCV003568273]	uncertain significance	4	112430577	112430577	Human		name
405182087	CV2909586	single nucleotide variant	NM_025144.4(ALPK1):c.1003G>T (p.Gly335Cys)	not provided [RCV003564076]	uncertain significance	4	112430550	112430550	Human		name
402467422	CV2910387	single nucleotide variant	NM_025144.4(ALPK1):c.1865C>T (p.Ser622Phe)	not provided [RCV003569622]	uncertain significance	4	112431412	112431412	Human		name
405207068	CV2913701	single nucleotide variant	NM_025144.4(ALPK1):c.1124T>C (p.Val375Ala)	not provided [RCV003566641]	uncertain significance	4	112430671	112430671	Human		name
405175485	CV2915577	single nucleotide variant	NM_025144.4(ALPK1):c.1235T>C (p.Ile412Thr)	not provided [RCV003563499]	uncertain significance	4	112430782	112430782	Human		name
402465077	CV2916551	single nucleotide variant	NM_025144.4(ALPK1):c.2612C>G (p.Ser871Cys)	Inborn genetic diseases [RCV004985438]\|not provided [RCV003569154]	uncertain significance	4	112432159	112432159	Human	1	name
402476388	CV2916989	single nucleotide variant	NM_025144.4(ALPK1):c.2492A>C (p.Asp831Ala)	Inborn genetic diseases [RCV004369415]\|not provided [RCV003571497]	uncertain significance	4	112432039	112432039	Human	1	name
402485473	CV2931612	single nucleotide variant	NM_025144.4(ALPK1):c.1679C>T (p.Ser560Leu)	Inborn genetic diseases [RCV004985440]\|not provided [RCV003572485]	uncertain significance	4	112431226	112431226	Human	1	name
405036853	CV2932875	single nucleotide variant	NM_025144.4(ALPK1):c.2018C>A (p.Pro673His)	not provided [RCV003578794]	uncertain significance	4	112431565	112431565	Human		name
405065294	CV2937191	single nucleotide variant	NM_025144.4(ALPK1):c.1624T>C (p.Ser542Pro)	not provided [RCV003663647]	likely benign	4	112431171	112431171	Human		name
405063483	CV2939789	single nucleotide variant	NM_025144.4(ALPK1):c.2581A>G (p.Met861Val)	not provided [RCV003658953]	uncertain significance	4	112432128	112432128	Human		name
405100600	CV2948019	single nucleotide variant	NM_025144.4(ALPK1):c.1129G>T (p.Ala377Ser)	not provided [RCV003666048]	uncertain significance	4	112430676	112430676	Human		name
402512264	CV2948338	single nucleotide variant	NM_025144.4(ALPK1):c.1397T>C (p.Val466Ala)	not provided [RCV003662609]	uncertain significance	4	112430944	112430944	Human		name
402491249	CV2949112	single nucleotide variant	NM_025144.4(ALPK1):c.1772C>T (p.Ser591Phe)	not provided [RCV003660568]	uncertain significance	4	112431319	112431319	Human		name
405117792	CV2949659	single nucleotide variant	NM_025144.4(ALPK1):c.1037C>T (p.Thr346Ile)	not provided [RCV003667111]	uncertain significance	4	112430584	112430584	Human		name
405160968	CV2950320	single nucleotide variant	NM_025144.4(ALPK1):c.1307G>C (p.Ser436Thr)	not provided [RCV003674680]	uncertain significance	4	112430854	112430854	Human		name
405129599	CV2962258	single nucleotide variant	NM_025144.4(ALPK1):c.2111T>C (p.Met704Thr)	not provided [RCV003668260]	uncertain significance	4	112431658	112431658	Human		name
405187187	CV2964032	single nucleotide variant	NM_025144.4(ALPK1):c.1159G>C (p.Gly387Arg)	not provided [RCV003676793]	uncertain significance	4	112430706	112430706	Human		name
405246850	CV2965821	single nucleotide variant	NM_025144.4(ALPK1):c.2467C>G (p.Pro823Ala)	not provided [RCV003685419]	uncertain significance	4	112432014	112432014	Human		name
405247181	CV2966472	single nucleotide variant	NM_025144.4(ALPK1):c.1856C>T (p.Thr619Ile)	not provided [RCV003685522]	likely benign	4	112431403	112431403	Human		name
405210624	CV2970485	single nucleotide variant	NM_025144.4(ALPK1):c.2716A>C (p.Thr906Pro)	not provided [RCV003679256]	uncertain significance	4	112432263	112432263	Human		name
405228692	CV2973647	single nucleotide variant	NM_025144.4(ALPK1):c.1608G>T (p.Arg536Ser)	not provided [RCV003681810]	uncertain significance	4	112431155	112431155	Human		name
405196954	CV2976168	single nucleotide variant	NM_025144.4(ALPK1):c.1366C>T (p.Leu456Phe)	not provided [RCV003677766]	uncertain significance	4	112430913	112430913	Human		name
402510945	CV2994906	single nucleotide variant	NM_025144.4(ALPK1):c.2687T>C (p.Ile896Thr)	not provided [RCV003689550]	uncertain significance	4	112432234	112432234	Human		name
402483821	CV2998167	single nucleotide variant	NM_025144.4(ALPK1):c.2366G>A (p.Gly789Glu)	not provided [RCV003686871]	uncertain significance	4	112431913	112431913	Human		name
402483945	CV2998184	single nucleotide variant	NM_025144.4(ALPK1):c.1585A>G (p.Arg529Gly)	not provided [RCV003686881]	uncertain significance	4	112431132	112431132	Human		name
405238274	CV3000445	single nucleotide variant	NM_025144.4(ALPK1):c.1845T>A (p.His615Gln)	not provided [RCV003718612]	uncertain significance	4	112431392	112431392	Human		name
405029761	CV3012550	single nucleotide variant	NM_025144.4(ALPK1):c.1646T>G (p.Leu549Trp)	not provided [RCV003695478]	uncertain significance	4	112431193	112431193	Human		name
405123644	CV3021053	single nucleotide variant	NM_025144.4(ALPK1):c.2153G>C (p.Arg718Pro)	not provided [RCV003701021]	uncertain significance	4	112431700	112431700	Human		name
405094427	CV3022764	single nucleotide variant	NM_025144.4(ALPK1):c.1815G>C (p.Arg605Ser)	not provided [RCV003699969]	uncertain significance	4	112431362	112431362	Human		name
402501241	CV3035429	single nucleotide variant	NM_025144.4(ALPK1):c.2152C>A (p.Arg718Ser)	Inborn genetic diseases [RCV004985518]\|not provided [RCV003714760]	uncertain significance	4	112431699	112431699	Human	1	name
405196600	CV3037651	single nucleotide variant	NM_025144.4(ALPK1):c.2207C>T (p.Pro736Leu)	not provided [RCV003706922]	uncertain significance	4	112431754	112431754	Human		name
405246579	CV3048165	single nucleotide variant	NM_025144.4(ALPK1):c.2690T>C (p.Leu897Pro)	not provided [RCV003720568]	uncertain significance	4	112432237	112432237	Human		name
405251911	CV3050049	single nucleotide variant	NM_025144.4(ALPK1):c.1444A>G (p.Lys482Glu)	not provided [RCV003721938]	uncertain significance	4	112430991	112430991	Human		name
405130469	CV3050992	single nucleotide variant	NM_025144.4(ALPK1):c.1648G>A (p.Asp550Asn)	not provided [RCV003724780]	likely benign	4	112431195	112431195	Human		name
405126583	CV3053541	single nucleotide variant	NM_025144.4(ALPK1):c.1186T>C (p.Ser396Pro)	not provided [RCV003724430]	uncertain significance	4	112430733	112430733	Human		name
405244976	CV3054849	single nucleotide variant	NM_025144.4(ALPK1):c.1273T>C (p.Ser425Pro)	not provided [RCV003720151]	uncertain significance	4	112430820	112430820	Human		name
405094892	CV3055486	single nucleotide variant	NM_025144.4(ALPK1):c.1463T>C (p.Val488Ala)	not provided [RCV003718094]	uncertain significance	4	112431010	112431010	Human		name
405160941	CV3062507	single nucleotide variant	NM_025144.4(ALPK1):c.2770T>C (p.Ser924Pro)	not provided [RCV003727093]	uncertain significance	4	112432317	112432317	Human		name
405150851	CV3063742	single nucleotide variant	NM_025144.4(ALPK1):c.2240T>C (p.Ile747Thr)	Inborn genetic diseases [RCV004985557]\|not provided [RCV003726408]	uncertain significance	4	112431787	112431787	Human	1	name
405193244	CV3066272	single nucleotide variant	NM_025144.4(ALPK1):c.1328A>G (p.Lys443Arg)	not provided [RCV003729926]	uncertain significance	4	112430875	112430875	Human		name
405209384	CV3117252	single nucleotide variant	NM_025144.4(ALPK1):c.1121C>T (p.Thr374Met)	not provided [RCV003823039]	uncertain significance	4	112430668	112430668	Human		name
405027022	CV3129727	single nucleotide variant	NM_025144.4(ALPK1):c.1069G>C (p.Ala357Pro)	not provided [RCV003830325]	uncertain significance	4	112430616	112430616	Human		name
405116167	CV3134279	single nucleotide variant	NM_025144.4(ALPK1):c.2968G>A (p.Asp990Asn)	not provided [RCV003836881]	uncertain significance	4	112432515	112432515	Human		name
405106402	CV3136115	single nucleotide variant	NM_025144.4(ALPK1):c.2174A>G (p.Asp725Gly)	not provided [RCV003835461]	likely benign	4	112431721	112431721	Human		name
405109621	CV3136800	single nucleotide variant	NM_025144.4(ALPK1):c.2038C>G (p.Pro680Ala)	not provided [RCV003835954]	uncertain significance	4	112431585	112431585	Human		name
405014340	CV3138877	single nucleotide variant	NM_025144.4(ALPK1):c.1222G>A (p.Val408Ile)	not provided [RCV003829214]	uncertain significance	4	112430769	112430769	Human		name
405039989	CV3141032	single nucleotide variant	NM_025144.4(ALPK1):c.2738A>G (p.Gln913Arg)	not provided [RCV003831325]	uncertain significance	4	112432285	112432285	Human		name
405204752	CV3144084	deletion	NM_025144.4(ALPK1):c.3725del (p.Pro1242fs)	not provided [RCV003844874]	uncertain significance	4	112441102	112441102	Human		name
405058615	CV3147874	single nucleotide variant	NM_025144.4(ALPK1):c.1768A>G (p.Ser590Gly)	not provided [RCV003850104]	uncertain significance	4	112431315	112431315	Human		name
405183425	CV3147946	single nucleotide variant	NM_025144.4(ALPK1):c.1334T>C (p.Ile445Thr)	not provided [RCV003842656]	uncertain significance	4	112430881	112430881	Human		name
405190278	CV3149640	single nucleotide variant	NM_025144.4(ALPK1):c.1456A>G (p.Thr486Ala)	not provided [RCV003843366]	uncertain significance	4	112431003	112431003	Human		name
405174071	CV3151943	single nucleotide variant	NM_025144.4(ALPK1):c.2336A>G (p.Lys779Arg)	not provided [RCV003858094]	uncertain significance	4	112431883	112431883	Human		name
405229310	CV3153482	single nucleotide variant	NM_025144.4(ALPK1):c.1760C>A (p.Ser587Ter)	not provided [RCV003848547]	uncertain significance	4	112431307	112431307	Human		name
405248489	CV3159311	single nucleotide variant	NM_025144.4(ALPK1):c.2029C>G (p.His677Asp)	not provided [RCV003869456]	uncertain significance	4	112431576	112431576	Human		name
405163144	CV3160334	single nucleotide variant	NM_025144.4(ALPK1):c.2513C>G (p.Pro838Arg)	not provided [RCV003857213]	likely benign	4	112432060	112432060	Human		name
405204733	CV3165582	single nucleotide variant	NM_025144.4(ALPK1):c.2614C>T (p.His872Tyr)	not provided [RCV003861248]	uncertain significance	4	112432161	112432161	Human		name
405213797	CV3169920	single nucleotide variant	NM_025144.4(ALPK1):c.2032A>G (p.Asn678Asp)	not provided [RCV003862524]	uncertain significance	4	112431579	112431579	Human		name
402476010	CV3173730	single nucleotide variant	NM_025144.4(ALPK1):c.1180A>G (p.Thr394Ala)	Inborn genetic diseases [RCV004987117]\|not provided [RCV003875268]	uncertain significance	4	112430727	112430727	Human	1	name
402501347	CV3180972	deletion	NM_025144.4(ALPK1):c.3290del (p.Lys1097fs)	not provided [RCV003877989]	likely benign	4	112438584	112438584	Human		name
402494038	CV3182671	single nucleotide variant	NM_025144.4(ALPK1):c.1690A>G (p.Asn564Asp)	Inborn genetic diseases [RCV004987127]\|not provided [RCV003877158]	uncertain significance	4	112431237	112431237	Human	1	name
405806927	CV3264949	single nucleotide variant	NM_025144.4(ALPK1):c.2680G>A (p.Gly894Ser)	Inborn genetic diseases [RCV004406297]	likely benign	4	112432227	112432227	Human	1	name
405806950	CV3264961	single nucleotide variant	NM_025144.4(ALPK1):c.2953G>T (p.Ala985Ser)	Inborn genetic diseases [RCV004406309]\|not provided [RCV005065053]	likely benign\|uncertain significance	4	112432500	112432500	Human	1	name
405806748	CV3268717	single nucleotide variant	NM_025144.4(ALPK1):c.1535G>A (p.Cys512Tyr)	Inborn genetic diseases [RCV004406231]	uncertain significance	4	112431082	112431082	Human	1	name
405806916	CV3268778	single nucleotide variant	NM_025144.4(ALPK1):c.2575G>A (p.Asp859Asn)	Inborn genetic diseases [RCV004406292]\|not provided [RCV005104494]	uncertain significance	4	112432122	112432122	Human	1	name
408384399	CV3505257	single nucleotide variant	NM_025144.4(ALPK1):c.2243T>C (p.Val748Ala)	ALPK1-related disorder [RCV004731779]	uncertain significance	4	112431790	112431790	Human		name , trait , alternate_id
408385180	CV3505684	single nucleotide variant	NM_025144.4(ALPK1):c.1570G>A (p.Gly524Ser)	ALPK1-related disorder [RCV004732397]	uncertain significance	4	112431117	112431117	Human		name , trait , alternate_id
596942939	CV3544254	single nucleotide variant	NM_025144.4(ALPK1):c.1078G>A (p.Gly360Ser)	not specified [RCV004800247]	uncertain significance	4	112430625	112430625	Human		name
597699690	CV3690117	single nucleotide variant	NM_025144.4(ALPK1):c.2150A>G (p.Tyr717Cys)	Inborn genetic diseases [RCV004987790]	uncertain significance	4	112431697	112431697	Human	1	name
597699794	CV3690197	single nucleotide variant	NM_025144.4(ALPK1):c.1894G>A (p.Asp632Asn)	Inborn genetic diseases [RCV004987807]	likely benign	4	112431441	112431441	Human	1	name
597699801	CV3690205	single nucleotide variant	NM_025144.4(ALPK1):c.2726A>G (p.Glu909Gly)	Inborn genetic diseases [RCV004987808]	uncertain significance	4	112432273	112432273	Human	1	name
597699807	CV3690220	single nucleotide variant	NM_025144.4(ALPK1):c.2768A>G (p.Asn923Ser)	Inborn genetic diseases [RCV004987809]	uncertain significance	4	112432315	112432315	Human	1	name
597699813	CV3690250	single nucleotide variant	NM_025144.4(ALPK1):c.2081C>T (p.Ala694Val)	Inborn genetic diseases [RCV004987810]	uncertain significance	4	112431628	112431628	Human	1	name
597851685	CV3737559	single nucleotide variant	NM_025144.4(ALPK1):c.2855A>G (p.Asn952Ser)	not provided [RCV005066332]	uncertain significance	4	112432402	112432402	Human		name
597918350	CV3737824	single nucleotide variant	NM_025144.4(ALPK1):c.1777G>A (p.Ala593Thr)	not provided [RCV005074423]	uncertain significance	4	112431324	112431324	Human		name
597838718	CV3740301	single nucleotide variant	NM_025144.4(ALPK1):c.2909T>C (p.Leu970Pro)	not provided [RCV005064329]	uncertain significance	4	112432456	112432456	Human		name
597898441	CV3740824	deletion	NM_025144.4(ALPK1):c.3063del (p.Lys1021fs)	not provided [RCV005071987]	uncertain significance	4	112435170	112435170	Human		name
597830241	CV3742940	single nucleotide variant	NM_025144.4(ALPK1):c.1731C>A (p.Ser577Arg)	not provided [RCV005061948]	uncertain significance	4	112431278	112431278	Human		name
597880080	CV3744754	single nucleotide variant	NM_025144.4(ALPK1):c.2438T>C (p.Ile813Thr)	not provided [RCV005069779]	uncertain significance	4	112431985	112431985	Human		name
597929908	CV3745783	single nucleotide variant	NM_025144.4(ALPK1):c.2536C>G (p.Pro846Ala)	not provided [RCV005075768]	uncertain significance	4	112432083	112432083	Human		name
597847984	CV3746423	single nucleotide variant	NM_025144.4(ALPK1):c.2326C>T (p.Pro776Ser)	not provided [RCV005060241]	uncertain significance	4	112431873	112431873	Human		name
597872607	CV3747194	single nucleotide variant	NM_025144.4(ALPK1):c.2024C>T (p.Ser675Leu)	not provided [RCV005068878]	uncertain significance	4	112431571	112431571	Human		name
597860735	CV3748706	single nucleotide variant	NM_025144.4(ALPK1):c.2666A>G (p.Asn889Ser)	not provided [RCV005067338]	uncertain significance	4	112432213	112432213	Human		name
597965452	CV3751149	single nucleotide variant	NM_025144.4(ALPK1):c.1527G>T (p.Lys509Asn)	not provided [RCV005082711]	uncertain significance	4	112431074	112431074	Human		name
597842624	CV3752370	single nucleotide variant	NM_025144.4(ALPK1):c.1973T>G (p.Leu658Trp)	not provided [RCV005086776]	uncertain significance	4	112431520	112431520	Human		name
597963320	CV3753913	single nucleotide variant	NM_025144.4(ALPK1):c.1388A>G (p.His463Arg)	not provided [RCV005082217]	uncertain significance	4	112430935	112430935	Human		name
597956477	CV3754648	single nucleotide variant	NM_025144.4(ALPK1):c.2530A>G (p.Ile844Val)	not provided [RCV005080498]	uncertain significance	4	112432077	112432077	Human		name
597953907	CV3757061	single nucleotide variant	NM_025144.4(ALPK1):c.1636C>T (p.Arg546Ter)	not provided [RCV005079922]	uncertain significance	4	112431183	112431183	Human		name
597942034	CV3757532	single nucleotide variant	NM_025144.4(ALPK1):c.2222A>G (p.Glu741Gly)	not provided [RCV005077718]	uncertain significance	4	112431769	112431769	Human		name
597897527	CV3773927	single nucleotide variant	NM_025144.4(ALPK1):c.2722A>T (p.Thr908Ser)	not provided [RCV005111648]	uncertain significance	4	112432269	112432269	Human		name
597924602	CV3778035	single nucleotide variant	NM_025144.4(ALPK1):c.2765A>G (p.Gln922Arg)	not provided [RCV005130759]	uncertain significance	4	112432312	112432312	Human		name
597913978	CV3778786	single nucleotide variant	NM_025144.4(ALPK1):c.2609G>T (p.Gly870Val)	not provided [RCV005129131]	uncertain significance	4	112432156	112432156	Human		name
597878720	CV3783154	single nucleotide variant	NM_025144.4(ALPK1):c.1945T>C (p.Ser649Pro)	not provided [RCV005123856]	uncertain significance	4	112431492	112431492	Human		name
597926463	CV3783312	single nucleotide variant	NM_025144.4(ALPK1):c.2475G>C (p.Trp825Cys)	not provided [RCV005115998]	uncertain significance	4	112432022	112432022	Human		name
597953252	CV3795496	single nucleotide variant	NM_025144.4(ALPK1):c.2354T>C (p.Val785Ala)	not provided [RCV005136506]	uncertain significance	4	112431901	112431901	Human		name
597958519	CV3797254	single nucleotide variant	NM_025144.4(ALPK1):c.1646T>C (p.Leu549Ser)	not provided [RCV005137941]	uncertain significance	4	112431193	112431193	Human		name
597975618	CV3799252	single nucleotide variant	NM_025144.4(ALPK1):c.1669A>C (p.Thr557Pro)	not provided [RCV005144648]	uncertain significance	4	112431216	112431216	Human		name
597975674	CV3799286	single nucleotide variant	NM_025144.4(ALPK1):c.2893A>T (p.Met965Leu)	not provided [RCV005144682]	uncertain significance	4	112432440	112432440	Human		name
597975692	CV3799298	single nucleotide variant	NM_025144.4(ALPK1):c.2776T>C (p.Ser926Pro)	not provided [RCV005144694]	uncertain significance	4	112432323	112432323	Human		name
597956969	CV3800382	single nucleotide variant	NM_025144.4(ALPK1):c.2701C>T (p.Leu901Phe)	not provided [RCV005137474]	uncertain significance	4	112432248	112432248	Human		name
597970632	CV3802028	single nucleotide variant	NM_025144.4(ALPK1):c.1264C>G (p.Gln422Glu)	not provided [RCV005141820]	uncertain significance	4	112430811	112430811	Human		name
597974500	CV3802186	single nucleotide variant	NM_025144.4(ALPK1):c.2290G>C (p.Glu764Gln)	not provided [RCV005143962]	uncertain significance	4	112431837	112431837	Human		name
597869131	CV3803441	single nucleotide variant	NM_025144.4(ALPK1):c.1063G>A (p.Val355Ile)	not provided [RCV005148038]	uncertain significance	4	112430610	112430610	Human		name
597869149	CV3803443	single nucleotide variant	NM_025144.4(ALPK1):c.2744G>A (p.Gly915Glu)	not provided [RCV005148040]	uncertain significance	4	112432291	112432291	Human		name
597851344	CV3803754	single nucleotide variant	NM_025144.4(ALPK1):c.1969A>G (p.Asn657Asp)	not provided [RCV005145471]	uncertain significance	4	112431516	112431516	Human		name
597851655	CV3803797	single nucleotide variant	NM_025144.4(ALPK1):c.1838A>G (p.Lys613Arg)	not provided [RCV005145514]	uncertain significance	4	112431385	112431385	Human		name
597911784	CV3806614	single nucleotide variant	NM_025144.4(ALPK1):c.2675T>A (p.Val892Glu)	not provided [RCV005154181]	uncertain significance	4	112432222	112432222	Human		name
597945692	CV3807392	single nucleotide variant	NM_025144.4(ALPK1):c.2112G>A (p.Met704Ile)	not provided [RCV005160027]	uncertain significance	4	112431659	112431659	Human		name
597955213	CV3809423	single nucleotide variant	NM_025144.4(ALPK1):c.2695C>T (p.Pro899Ser)	not provided [RCV005162147]	likely benign	4	112432242	112432242	Human		name
597881984	CV3810602	single nucleotide variant	NM_025144.4(ALPK1):c.1870G>A (p.Ala624Thr)	not provided [RCV005149871]	uncertain significance	4	112431417	112431417	Human		name
597921163	CV3811821	single nucleotide variant	NM_025144.4(ALPK1):c.1373C>T (p.Thr458Ile)	not provided [RCV005155652]	uncertain significance	4	112430920	112430920	Human		name
597927941	CV3816071	single nucleotide variant	NM_025144.4(ALPK1):c.1178G>C (p.Ser393Thr)	not provided [RCV005156652]	uncertain significance	4	112430725	112430725	Human		name
597856312	CV3816553	single nucleotide variant	NM_025144.4(ALPK1):c.2158G>A (p.Ala720Thr)	not provided [RCV005146125]	uncertain significance	4	112431705	112431705	Human		name
597973441	CV3820481	single nucleotide variant	NM_025144.4(ALPK1):c.2360C>T (p.Pro787Leu)	not provided [RCV005167998]	uncertain significance	4	112431907	112431907	Human		name
597969116	CV3821389	single nucleotide variant	NM_025144.4(ALPK1):c.1213T>C (p.Ser405Pro)	not provided [RCV005166031]	uncertain significance	4	112430760	112430760	Human		name
597840833	CV3825427	single nucleotide variant	NM_025144.4(ALPK1):c.2551G>A (p.Val851Met)	not provided [RCV005172110]	uncertain significance	4	112432098	112432098	Human		name
597877301	CV3825768	deletion	NM_025144.4(ALPK1):c.3448del (p.Thr1150fs)	not provided [RCV005177642]	uncertain significance	4	112439779	112439779	Human		name
597844545	CV3827479	single nucleotide variant	NM_025144.4(ALPK1):c.2299G>A (p.Glu767Lys)	not provided [RCV005172750]	uncertain significance	4	112431846	112431846	Human		name
597976068	CV3832848	single nucleotide variant	NM_025144.4(ALPK1):c.2621T>C (p.Leu874Pro)	not provided [RCV005169407]	uncertain significance	4	112432168	112432168	Human		name
597950416	CV3846915	single nucleotide variant	NM_025144.4(ALPK1):c.1603G>A (p.Gly535Arg)	not provided [RCV005190086]	uncertain significance	4	112431150	112431150	Human		name
597938933	CV3852937	single nucleotide variant	NM_025144.4(ALPK1):c.1217A>C (p.Gln406Pro)	not provided [RCV005187338]	uncertain significance	4	112430764	112430764	Human		name
598192326	CV3971835	single nucleotide variant	NM_025144.4(ALPK1):c.2266G>T (p.Asp756Tyr)	Inborn genetic diseases [RCV005354426]	uncertain significance	4	112431813	112431813	Human	1	name
598249363	CV3971847	single nucleotide variant	NM_025144.4(ALPK1):c.2897G>A (p.Arg966Lys)	Inborn genetic diseases [RCV005345576]	uncertain significance	4	112432444	112432444	Human	1	name
598192470	CV3971867	single nucleotide variant	NM_025144.4(ALPK1):c.1306A>G (p.Ser436Gly)	Inborn genetic diseases [RCV005354451]	likely benign	4	112430853	112430853	Human	1	name
617153781	CV4016869	single nucleotide variant	NM_025144.4(ALPK1):c.1507G>C (p.Val503Leu)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005415961]	uncertain significance	4	112431054	112431054	Human	1	name
617153782	CV4016870	single nucleotide variant	NM_025144.4(ALPK1):c.2929C>A (p.Pro977Thr)	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome [RCV005415962]	uncertain significance	4	112432476	112432476	Human	1	name
15178312	CV709130	single nucleotide variant	NM_025144.4(ALPK1):c.2618G>T (p.Arg873Ile)	not provided [RCV000973637]	benign\|likely benign	4	112432165	112432165	Human		name
155739567	CV1779590	single nucleotide variant	NM_025144.4(ALPK1):c.3092T>C (p.Ile1031Thr)	not provided [RCV002302227]	uncertain significance	4	112435205	112435205	Human		name
156294951	CV1904538	single nucleotide variant	NM_025144.4(ALPK1):c.3037G>A (p.Ala1013Thr)	not provided [RCV002598907]	likely benign	4	112435150	112435150	Human		name
156418689	CV1918629	single nucleotide variant	NM_025144.4(ALPK1):c.3077C>T (p.Thr1026Met)	not provided [RCV002611892]	likely benign	4	112435190	112435190	Human		name
156217147	CV1927819	single nucleotide variant	NM_025144.4(ALPK1):c.3094G>T (p.Val1032Phe)	Inborn genetic diseases [RCV002654838]\|not provided [RCV002644245]	uncertain significance	4	112435207	112435207	Human	1	name
156352100	CV1965527	single nucleotide variant	NM_025144.4(ALPK1):c.3718G>A (p.Glu1240Lys)	Inborn genetic diseases [RCV005350958]\|not provided [RCV002581136]	uncertain significance	4	112441096	112441096	Human	1	name
155968971	CV1968045	single nucleotide variant	NM_025144.4(ALPK1):c.3311T>C (p.Ile1104Thr)	not provided [RCV002617091]	uncertain significance	4	112438606	112438606	Human		name
156082244	CV1972175	single nucleotide variant	NM_025144.4(ALPK1):c.3338C>G (p.Ser1113Cys)	not provided [RCV002621582]	uncertain significance	4	112438633	112438633	Human		name
156239578	CV1973147	single nucleotide variant	NM_025144.4(ALPK1):c.3094G>A (p.Val1032Ile)	not provided [RCV002597100]	likely benign	4	112435207	112435207	Human		name
156344497	CV1995075	single nucleotide variant	NM_025144.4(ALPK1):c.3200A>G (p.Lys1067Arg)	Inborn genetic diseases [RCV003167590]\|not provided [RCV002650499]	uncertain significance	4	112438495	112438495	Human	1	name
156377174	CV2000424	single nucleotide variant	NM_025144.4(ALPK1):c.3691C>T (p.Arg1231Cys)	not provided [RCV002653384]	benign	4	112441069	112441069	Human		name
156377261	CV2000434	single nucleotide variant	NM_025144.4(ALPK1):c.3098A>G (p.Tyr1033Cys)	not provided [RCV002653391]	likely benign	4	112435211	112435211	Human		name
156174463	CV2038054	single nucleotide variant	NM_025144.4(ALPK1):c.3002T>G (p.Val1001Gly)	not provided [RCV002741961]	uncertain significance	4	112432549	112432549	Human		name
156181020	CV2058597	single nucleotide variant	NM_025144.4(ALPK1):c.3542G>C (p.Trp1181Ser)	not provided [RCV002828303]	uncertain significance	4	112440920	112440920	Human		name
156010573	CV2075544	single nucleotide variant	NM_025144.4(ALPK1):c.3425C>G (p.Ser1142Ter)	not provided [RCV002843849]	uncertain significance	4	112439759	112439759	Human		name
156339533	CV2092516	single nucleotide variant	NM_025144.4(ALPK1):c.3709C>A (p.Pro1237Thr)	not provided [RCV002900395]	benign\|likely benign	4	112441087	112441087	Human		name
156205771	CV2103710	single nucleotide variant	NM_025144.4(ALPK1):c.3032A>G (p.His1011Arg)	not provided [RCV002931857]	uncertain significance	4	112432579	112432579	Human		name
155987092	CV2109065	single nucleotide variant	NM_025144.4(ALPK1):c.3343A>G (p.Ile1115Val)	Inborn genetic diseases [RCV005351042]\|not provided [RCV002947150]	likely benign\|uncertain significance	4	112438638	112438638	Human	1	name
156203071	CV2110142	single nucleotide variant	NM_025144.4(ALPK1):c.3394C>A (p.Pro1132Thr)	not provided [RCV002957453]	likely benign	4	112439728	112439728	Human		name
156368953	CV2113424	single nucleotide variant	NM_025144.4(ALPK1):c.3288C>G (p.Asn1096Lys)	not provided [RCV002942174]	uncertain significance	4	112438583	112438583	Human		name
156244809	CV2126326	single nucleotide variant	NM_025144.4(ALPK1):c.3025C>G (p.Arg1009Gly)	ALPK1-related disorder [RCV003963504]\|not provided [RCV002958998]	likely benign	4	112432572	112432572	Human	1	name , trait , alternate_id
156341041	CV2127450	single nucleotide variant	NM_025144.4(ALPK1):c.3211G>A (p.Glu1071Lys)	not provided [RCV002938902]	uncertain significance	4	112438506	112438506	Human		name
156034184	CV2132795	single nucleotide variant	NM_025144.4(ALPK1):c.3400A>T (p.Ile1134Leu)	Inborn genetic diseases [RCV005343571]\|not provided [RCV002999267]\|not specified [RCV005406552]	uncertain significance	4	112439734	112439734	Human	1	name
156035385	CV2132851	single nucleotide variant	NM_025144.4(ALPK1):c.3075G>C (p.Trp1025Cys)	not provided [RCV002999310]	uncertain significance	4	112435188	112435188	Human		name
155947242	CV2139536	single nucleotide variant	NM_025144.4(ALPK1):c.3250C>T (p.Arg1084Ter)	not provided [RCV002994416]	uncertain significance	4	112438545	112438545	Human		name
156211552	CV2141997	single nucleotide variant	NM_025144.4(ALPK1):c.3317C>T (p.Thr1106Ile)	Inborn genetic diseases [RCV005351061]\|not provided [RCV002985612]	likely benign\|uncertain significance	4	112438612	112438612	Human	1	name
156364614	CV2176817	single nucleotide variant	NM_025144.4(ALPK1):c.3605A>G (p.Gln1202Arg)	not provided [RCV003049254]	uncertain significance	4	112440983	112440983	Human		name
156200289	CV2182789	single nucleotide variant	NM_025144.4(ALPK1):c.3301G>A (p.Glu1101Lys)	not provided [RCV003024426]	benign	4	112438596	112438596	Human		name
156120919	CV2183304	single nucleotide variant	NM_025144.4(ALPK1):c.3185G>A (p.Gly1062Glu)	Inborn genetic diseases [RCV003039311]\|not provided [RCV003039310]	uncertain significance	4	112435298	112435298	Human	1	name
156325975	CV2184337	single nucleotide variant	NM_025144.4(ALPK1):c.3649T>C (p.Phe1217Leu)	not provided [RCV003046937]	likely benign	4	112441027	112441027	Human		name
155923222	CV2251888	single nucleotide variant	NM_025144.4(ALPK1):c.3529G>A (p.Asp1177Asn)	Inborn genetic diseases [RCV002773286]\|not provided [RCV003777762]	uncertain significance	4	112439863	112439863	Human	1	name
156189951	CV2289224	single nucleotide variant	NM_025144.4(ALPK1):c.3488A>G (p.His1163Arg)	Inborn genetic diseases [RCV002874181]\|not provided [RCV003777875]	uncertain significance	4	112439822	112439822	Human	1	name
156221750	CV2343884	single nucleotide variant	NM_025144.4(ALPK1):c.3161A>G (p.His1054Arg)	Inborn genetic diseases [RCV002986185]\|not provided [RCV005098978]	uncertain significance	4	112435274	112435274	Human	1	name
401881033	CV2763218	single nucleotide variant	NM_025144.4(ALPK1):c.3026G>A (p.Arg1009Gln)	Inborn genetic diseases [RCV003349892]\|not provided [RCV003549071]	likely benign\|uncertain significance	4	112432573	112432573	Human	1	name
401923465	CV2820114	single nucleotide variant	NM_025144.4(ALPK1):c.3251G>A (p.Arg1084Gln)	not provided [RCV003435134]	benign	4	112438546	112438546	Human		name
402479072	CV2853865	single nucleotide variant	NM_025144.4(ALPK1):c.3075G>T (p.Trp1025Cys)	not provided [RCV003543819]	uncertain significance	4	112435188	112435188	Human		name
405123136	CV2885087	single nucleotide variant	NM_025144.4(ALPK1):c.3519T>A (p.Asp1173Glu)	not provided [RCV003559286]	uncertain significance	4	112439853	112439853	Human		name
405123512	CV2885232	single nucleotide variant	NM_025144.4(ALPK1):c.3415G>T (p.Val1139Leu)	not provided [RCV003559346]	uncertain significance	4	112439749	112439749	Human		name
405173298	CV2907730	single nucleotide variant	NM_025144.4(ALPK1):c.3637G>A (p.Gly1213Arg)	not provided [RCV003563316]	uncertain significance	4	112441015	112441015	Human		name
405181015	CV2914091	duplication	NM_025144.4(ALPK1):c.146_149dup (p.Ile51fs)	not provided [RCV003563967]	uncertain significance	4	112382421	112382422	Human		name
402523118	CV2940333	single nucleotide variant	NM_025144.4(ALPK1):c.3574C>G (p.Leu1192Val)	not provided [RCV003663457]	uncertain significance	4	112440952	112440952	Human		name
402486447	CV2945162	single nucleotide variant	NM_025144.4(ALPK1):c.3683T>A (p.Ile1228Asn)	not provided [RCV003660117]	uncertain significance	4	112441061	112441061	Human		name
402491628	CV2945707	single nucleotide variant	NM_025144.4(ALPK1):c.3440T>C (p.Val1147Ala)	not provided [RCV003660600]	uncertain significance	4	112439774	112439774	Human		name
402519884	CV2946275	single nucleotide variant	NM_025144.4(ALPK1):c.3166C>T (p.His1056Tyr)	not provided [RCV003663223]	uncertain significance	4	112435279	112435279	Human		name
405116444	CV2953182	single nucleotide variant	NM_025144.4(ALPK1):c.3568A>G (p.Ile1190Val)	not provided [RCV003666879]	uncertain significance	4	112440946	112440946	Human		name
405184100	CV2967522	single nucleotide variant	NM_025144.4(ALPK1):c.3565C>T (p.Leu1189Phe)	not provided [RCV003676577]	uncertain significance	4	112440943	112440943	Human		name
405212018	CV2983987	single nucleotide variant	NM_025144.4(ALPK1):c.3365A>G (p.Lys1122Arg)	not provided [RCV003708835]	uncertain significance	4	112439699	112439699	Human		name
402517357	CV3003270	single nucleotide variant	NM_025144.4(ALPK1):c.3157C>T (p.His1053Tyr)	not provided [RCV003716173]	uncertain significance	4	112435270	112435270	Human		name
405029884	CV3012560	single nucleotide variant	NM_025144.4(ALPK1):c.3638G>C (p.Gly1213Ala)	not provided [RCV003695487]	uncertain significance	4	112441016	112441016	Human		name
405120471	CV3027064	single nucleotide variant	NM_025144.4(ALPK1):c.3232C>G (p.His1078Asp)	not provided [RCV003700642]	uncertain significance	4	112438527	112438527	Human		name
405183756	CV3057848	single nucleotide variant	NM_025144.4(ALPK1):c.3692G>A (p.Arg1231His)	not provided [RCV003729056]	uncertain significance	4	112441070	112441070	Human		name
405226301	CV3059344	single nucleotide variant	NM_025144.4(ALPK1):c.3464C>T (p.Thr1155Ile)	not provided [RCV003734110]	uncertain significance	4	112439798	112439798	Human		name
405228330	CV3069615	single nucleotide variant	NM_025144.4(ALPK1):c.3031C>T (p.His1011Tyr)	not provided [RCV003734297]	uncertain significance	4	112432578	112432578	Human		name
404980318	CV3120991	single nucleotide variant	NM_025144.4(ALPK1):c.3592C>T (p.His1198Tyr)	Inborn genetic diseases [RCV004985608]\|not provided [RCV003825983]	uncertain significance	4	112440970	112440970	Human	1	name
405215208	CV3124488	single nucleotide variant	NM_025144.4(ALPK1):c.3598G>A (p.Val1200Ile)	not provided [RCV003823850]	uncertain significance	4	112440976	112440976	Human		name
405121336	CV3131576	single nucleotide variant	NM_025144.4(ALPK1):c.3385A>G (p.Ser1129Gly)	Inborn genetic diseases [RCV004366898]\|not provided [RCV003837440]	uncertain significance	4	112439719	112439719	Human	1	name
404986829	CV3135486	single nucleotide variant	NM_025144.4(ALPK1):c.3025C>T (p.Arg1009Ter)	not provided [RCV003826781]	uncertain significance	4	112432572	112432572	Human		name
405190503	CV3149659	single nucleotide variant	NM_025144.4(ALPK1):c.3125A>G (p.Lys1042Arg)	not provided [RCV003843385]	uncertain significance	4	112435238	112435238	Human		name
405141389	CV3155320	single nucleotide variant	NM_025144.4(ALPK1):c.3386G>A (p.Ser1129Asn)	not provided [RCV003855558]	uncertain significance	4	112439720	112439720	Human		name
402482927	CV3170942	single nucleotide variant	NM_025144.4(ALPK1):c.3323T>C (p.Ile1108Thr)	Inborn genetic diseases [RCV004634404]\|not provided [RCV003876145]	uncertain significance	4	112438618	112438618	Human	1	name
402495873	CV3179178	single nucleotide variant	NM_025144.4(ALPK1):c.3035G>A (p.Ser1012Asn)	not provided [RCV003877445]	uncertain significance	4	112435148	112435148	Human		name
405806980	CV3264976	single nucleotide variant	NM_025144.4(ALPK1):c.3142A>C (p.Asn1048His)	Inborn genetic diseases [RCV004406324]	uncertain significance	4	112435255	112435255	Human	1	name
405806982	CV3264977	single nucleotide variant	NM_025144.4(ALPK1):c.3172G>C (p.Glu1058Gln)	Inborn genetic diseases [RCV004406325]	uncertain significance	4	112435285	112435285	Human	1	name
405807004	CV3264988	single nucleotide variant	NM_025144.4(ALPK1):c.3434C>T (p.Thr1145Met)	Inborn genetic diseases [RCV004406336]	uncertain significance	4	112439768	112439768	Human	1	name
405807025	CV3264998	single nucleotide variant	NM_025144.4(ALPK1):c.3659A>G (p.Asn1220Ser)	Inborn genetic diseases [RCV004406346]	uncertain significance	4	112441037	112441037	Human	1	name
407495782	CV3455847	single nucleotide variant	NM_025144.4(ALPK1):c.3228G>C (p.Trp1076Cys)	Inborn genetic diseases [RCV004621674]	uncertain significance	4	112438523	112438523	Human	1	name
407523996	CV3455854	single nucleotide variant	NM_025144.4(ALPK1):c.3613T>C (p.Phe1205Leu)	Inborn genetic diseases [RCV004631243]	uncertain significance	4	112440991	112440991	Human	1	name
407524200	CV3455861	single nucleotide variant	NM_025144.4(ALPK1):c.3606G>C (p.Gln1202His)	Inborn genetic diseases [RCV004631249]	uncertain significance	4	112440984	112440984	Human	1	name
597699819	CV3686381	single nucleotide variant	NM_025144.4(ALPK1):c.3320A>G (p.Gln1107Arg)	Inborn genetic diseases [RCV004987811]	uncertain significance	4	112438615	112438615	Human	1	name
597699789	CV3690186	single nucleotide variant	NM_025144.4(ALPK1):c.3403C>G (p.Leu1135Val)	Inborn genetic diseases [RCV004987806]	uncertain significance	4	112439737	112439737	Human	1	name
597931178	CV3745929	single nucleotide variant	NM_025144.4(ALPK1):c.3394C>G (p.Pro1132Ala)	not provided [RCV005075915]	uncertain significance	4	112439728	112439728	Human		name
597934242	CV3750422	single nucleotide variant	NM_025144.4(ALPK1):c.3633G>C (p.Lys1211Asn)	not provided [RCV005076347]	uncertain significance	4	112441011	112441011	Human		name
597952018	CV3756567	single nucleotide variant	NM_025144.4(ALPK1):c.3374A>G (p.Lys1125Arg)	not provided [RCV005079624]	uncertain significance	4	112439708	112439708	Human		name
597951403	CV3765388	single nucleotide variant	NM_025144.4(ALPK1):c.3095T>A (p.Val1032Asp)	not provided [RCV005121032]	uncertain significance	4	112435208	112435208	Human		name
597920950	CV3781333	single nucleotide variant	NM_025144.4(ALPK1):c.3230A>G (p.His1077Arg)	not provided [RCV005130215]	uncertain significance	4	112438525	112438525	Human		name
597928638	CV3788845	single nucleotide variant	NM_025144.4(ALPK1):c.3016C>T (p.Gln1006Ter)	not provided [RCV005131324]	uncertain significance	4	112432563	112432563	Human		name
597953494	CV3795552	single nucleotide variant	NM_025144.4(ALPK1):c.3283T>A (p.Phe1095Ile)	not provided [RCV005136562]	uncertain significance	4	112438578	112438578	Human		name
597907852	CV3806039	single nucleotide variant	NM_025144.4(ALPK1):c.3685T>C (p.Cys1229Arg)	not provided [RCV005153797]	uncertain significance	4	112441063	112441063	Human		name
597940295	CV3818827	single nucleotide variant	NM_025144.4(ALPK1):c.3071T>C (p.Leu1024Pro)	not provided [RCV005158833]	uncertain significance	4	112435184	112435184	Human		name
597850784	CV3824622	single nucleotide variant	NM_025144.4(ALPK1):c.3446A>C (p.Lys1149Thr)	not provided [RCV005173661]	uncertain significance	4	112439780	112439780	Human		name
597839460	CV3824995	single nucleotide variant	NM_025144.4(ALPK1):c.3262G>A (p.Ala1088Thr)	not provided [RCV005171859]	uncertain significance	4	112438557	112438557	Human		name
597898312	CV3826615	single nucleotide variant	NM_025144.4(ALPK1):c.3593A>G (p.His1198Arg)	not provided [RCV005180748]	uncertain significance	4	112440971	112440971	Human		name
597974860	CV3831883	single nucleotide variant	NM_025144.4(ALPK1):c.3394C>T (p.Pro1132Ser)	not provided [RCV005168822]	uncertain significance	4	112439728	112439728	Human		name
597976070	CV3832846	single nucleotide variant	NM_025144.4(ALPK1):c.3404T>C (p.Leu1135Pro)	not provided [RCV005169405]	uncertain significance	4	112439738	112439738	Human		name
15155515	CV709131	single nucleotide variant	NM_025144.4(ALPK1):c.3350T>C (p.Leu1117Pro)	not provided [RCV000968938]	benign	4	112438645	112438645	Human		name
405178781	CV3147310	duplication	NM_025144.4(ALPK1):c.459_466dup (p.Val156fs)	not provided [RCV003842212]	uncertain significance	4	112412005	112412006	Human		name
597916785	CV3779429	deletion	NM_025144.4(ALPK1):c.816_837del (p.Asp272fs)	not provided [RCV005129570]	uncertain significance	4	112429168	112429189	Human		name
156012405	CV2039446	deletion	NM_025144.4(ALPK1):c.336_338del (p.Phe112del)	not provided [RCV002756756]	uncertain significance	4	112411884	112411886	Human		name
156294710	CV2065248	microsatellite	NM_025144.4(ALPK1):c.2821TCT[1] (p.Ser942del)	not provided [RCV002856892]	benign	4	112432367	112432369	Human		name
597876740	CV3860165	microsatellite	NM_025144.4(ALPK1):c.2167TCT[1] (p.Ser724del)	not provided [RCV005198374]	uncertain significance	4	112431714	112431716	Human		name
8631002	CV86158	single nucleotide variant	NM_001102406.1(ALPK1):c.2296G>A (p.Gly766Arg)	Malignant melanoma [RCV000066244]	not provided	4	112431843	112431843	Human		name
156315555	CV1869732	microsatellite	NM_025144.4(ALPK1):c.1306_1307del (p.Ser436fs)	not provided [RCV003062724]	benign	4	112430850	112430851	Human		name
156194863	CV1970937	deletion	NM_025144.4(ALPK1):c.2021_2028del (p.Phe674fs)	not provided [RCV002625534]	uncertain significance	4	112431565	112431572	Human		name
405190443	CV2988058	microsatellite	NM_025144.4(ALPK1):c.3519TGT[1] (p.Val1176del)	not provided [RCV003706414]	uncertain significance	4	112439853	112439855	Human		name
156369137	CV1919965	deletion	NM_025144.4(ALPK1):c.1987_1989del (p.Asn663del)	not provided [RCV002603039]	uncertain significance	4	112431534	112431536	Human		name
156446325	CV1951362	inversion	NM_025144.4(ALPK1):c.2582_2583inv (p.Met861Thr)	not provided [RCV003117297]	likely benign	4	112432129	112432130	Human		name
156145274	CV1973794	inversion	NM_025144.4(ALPK1):c.1924_1925inv (p.His642Cys)	not provided [RCV002593966]	uncertain significance	4	112431471	112431472	Human		name
156358518	CV2006818	deletion	NM_025144.4(ALPK1):c.3705_3709del (p.Arg1236fs)	not provided [RCV002676089]	likely benign\|uncertain significance	4	112441080	112441084	Human		name
155923653	CV2099440	deletion	NM_025144.4(ALPK1):c.3451_3452del (p.Glu1151fs)	ALPK1-related disorder [RCV003926491]\|not provided [RCV002903467]	benign\|likely benign	4	112439784	112439785	Human	1	name , trait , alternate_id
405187386	CV2964195	microsatellite	NM_025144.4(ALPK1):c.3636_3637del (p.Gly1213fs)	not provided [RCV003676881]	uncertain significance	4	112441010	112441011	Human		name
597945243	CV3755327	deletion	NM_025144.4(ALPK1):c.3094_3100del (p.Val1032fs)	not provided [RCV005078336]	uncertain significance	4	112435202	112435208	Human		name
405227941	CV3142975	indel	NM_025144.4(ALPK1):c.381_382delinsAA (p.Leu128Met)	not provided [RCV003848318]	uncertain significance	4	112411931	112411932	Human		name
156093241	CV1909914	deletion	NM_025144.4(ALPK1):c.465del (p.Ser155_Val156insTer)	not provided [RCV002591988]	uncertain significance	4	112412014	112412014	Human		name
156244707	CV1894043	indel	NM_025144.4(ALPK1):c.3251_3252delinsAG (p.Arg1084Gln)	not provided [RCV003085877]	benign	4	112438546	112438547	Human		name
156441957	CV1941616	deletion	NM_025144.4(ALPK1):c.2375_2389del (p.Ala792_Glu796del)	not provided [RCV003112293]	uncertain significance	4	112431920	112431934	Human		name
597927129	CV3819762	deletion	NM_025144.4(ALPK1):c.2227_2235del (p.Ala743_Glu745del)	not provided [RCV005156462]	uncertain significance	4	112431771	112431779	Human		name
156126492	CV2158475	deletion	NM_025144.4(ALPK1):c.3462_3497del (p.Thr1155_Tyr1166del)	not provided [RCV003022006]	uncertain significance	4	112439796	112439831	Human		name
329847482	CV2524318	deletion	NM_025144.4(ALPK1):c.1323_1324del (p.Leu441_Asp442insTer)	not provided [RCV003227210]	uncertain significance	4	112430870	112430871	Human		name
405199467	CV3164489	microsatellite	NM_025144.4(ALPK1):c.3189-4_3189-3insCACAACAAAGAAGGTATGTTGGGA	not provided [RCV003860546]	uncertain significance	4	112438479	112438480	Human		name

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