Siae Variant Search Result - Rat Genome Database

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466 records found for search term Siae

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405166554	CV2857609	single nucleotide variant	NM_170601.5(SIAE):c.68-9A>C	not provided [RCV003541833]	likely benign	11	124669530	124669530	Human		name
597926875	CV3855431	single nucleotide variant	NM_170601.5(SIAE):c.68-8T>A	not provided [RCV005206030]	likely benign	11	124669529	124669529	Human		name
127312640	CV1121137	single nucleotide variant	NM_170601.5(SIAE):c.67+17C>A	not provided [RCV001457183]	likely benign	11	124673625	124673625	Human		name
151758844	CV1340591	single nucleotide variant	NM_170601.5(SIAE):c.229+1G>T	not provided [RCV001913743]	uncertain significance	11	124669359	124669359	Human		name
151825628	CV1404243	single nucleotide variant	NM_170601.5(SIAE):c.833-3T>A	not provided [RCV001976157]	uncertain significance	11	124647501	124647501	Human		name
151826075	CV1447163	single nucleotide variant	NM_170601.5(SIAE):c.230-6T>C	not provided [RCV001870074]	uncertain significance	11	124660809	124660809	Human		name
151762042	CV1455972	single nucleotide variant	NM_170601.5(SIAE):c.544+9C>T	not provided [RCV002044394]	likely benign	11	124654646	124654646	Human		name
151749238	CV1465258	deletion	NM_170601.5(SIAE):c.229+4del	not provided [RCV002043106]	uncertain significance	11	124669356	124669356	Human		name
151734559	CV1497855	single nucleotide variant	NM_170601.5(SIAE):c.966+3A>G	not provided [RCV001984555]	uncertain significance	11	124647362	124647362	Human		name
152051555	CV1521485	single nucleotide variant	NM_170601.5(SIAE):c.68-20G>A	not provided [RCV002145751]	likely benign	11	124669541	124669541	Human		name
152051814	CV1521593	single nucleotide variant	NM_170601.5(SIAE):c.68-15T>C	not provided [RCV002145781]	likely benign	11	124669536	124669536	Human		name
152039210	CV1555243	single nucleotide variant	NM_170601.5(SIAE):c.406-9C>T	not provided [RCV002107484]	likely benign	11	124654802	124654802	Human		name
152030175	CV1568935	single nucleotide variant	NM_170601.5(SIAE):c.68-14G>C	not provided [RCV002186397]	likely benign	11	124669535	124669535	Human		name
152045246	CV1647739	single nucleotide variant	NM_170601.5(SIAE):c.406-9C>A	not provided [RCV002071521]	likely benign	11	124654802	124654802	Human		name
156368095	CV1887706	single nucleotide variant	NM_170601.5(SIAE):c.966+5G>A	not provided [RCV003092205]	uncertain significance	11	124647360	124647360	Human		name
156311194	CV1899901	single nucleotide variant	NM_170601.5(SIAE):c.723-3C>G	not provided [RCV003088457]	uncertain significance	11	124648178	124648178	Human		name
156408756	CV1911754	single nucleotide variant	NM_170601.5(SIAE):c.966+4C>T	not provided [RCV002607338]	uncertain significance	11	124647361	124647361	Human		name
156354708	CV1920966	single nucleotide variant	NM_170601.5(SIAE):c.230-1G>T	not provided [RCV002632240]	uncertain significance	11	124660804	124660804	Human		name
156106000	CV1953658	single nucleotide variant	NM_170601.5(SIAE):c.833-5T>C	not provided [RCV002571021]	likely benign	11	124647503	124647503	Human		name
156402418	CV1988548	single nucleotide variant	NM_170601.5(SIAE):c.67+17C>T	not provided [RCV002605733]	likely benign	11	124673625	124673625	Human		name
156352724	CV1994593	single nucleotide variant	NM_170601.5(SIAE):c.68-11A>T	not provided [RCV002675707]	likely benign	11	124669532	124669532	Human		name
156023476	CV2025556	single nucleotide variant	NM_170601.5(SIAE):c.230-1G>A	not provided [RCV002735486]	uncertain significance	11	124660804	124660804	Human		name
156323186	CV2053883	single nucleotide variant	NM_170601.5(SIAE):c.68-14G>A	not provided [RCV002810216]	likely benign	11	124669535	124669535	Human		name
155996431	CV2168714	single nucleotide variant	NM_170601.5(SIAE):c.405+9C>G	not provided [RCV003017074]	likely benign	11	124660619	124660619	Human		name
405236522	CV3076612	single nucleotide variant	NM_170601.5(SIAE):c.832+8T>G	not provided [RCV003735998]	likely benign	11	124648058	124648058	Human		name
405075014	CV3156117	single nucleotide variant	NM_170601.5(SIAE):c.723-9T>C	not provided [RCV003851175]	likely benign	11	124648184	124648184	Human		name
597962990	CV3753836	single nucleotide variant	NM_170601.5(SIAE):c.405+8G>A	not provided [RCV005082140]	likely benign	11	124660620	124660620	Human		name
597934653	CV3810973	single nucleotide variant	NM_170601.5(SIAE):c.230-4T>G	not provided [RCV005157682]	likely benign	11	124660807	124660807	Human		name
597943017	CV3816369	single nucleotide variant	NM_170601.5(SIAE):c.67+15C>T	not provided [RCV005159430]	likely benign	11	124673627	124673627	Human		name
126759179	CV994379	deletion	NM_170601.5(SIAE):c.967-1del	not provided [RCV001308941]	uncertain significance	11	124639868	124639868	Human		name
126748243	CV1009572	single nucleotide variant	NM_170601.5(SIAE):c.544+10G>A	not provided [RCV001326305]	likely benign\|uncertain significance	11	124654645	124654645	Human		name
127296479	CV1156632	single nucleotide variant	NM_170601.5(SIAE):c.544+18C>T	not provided [RCV001512523]	benign	11	124654637	124654637	Human		name
127299796	CV1156634	single nucleotide variant	NM_170601.5(SIAE):c.406-19G>C	not provided [RCV001513836]	benign	11	124654812	124654812	Human		name
127310347	CV1156635	single nucleotide variant	NM_170601.5(SIAE):c.229+20G>A	not provided [RCV001518226]	benign	11	124669340	124669340	Human		name
127305614	CV1156636	single nucleotide variant	NM_170601.5(SIAE):c.229+19C>T	not provided [RCV001516334]	benign	11	124669341	124669341	Human		name
151886647	CV1499563	single nucleotide variant	NM_170601.5(SIAE):c.1320+2T>G	not provided [RCV001887610]	uncertain significance	11	124638540	124638540	Human		name
152037374	CV1521958	single nucleotide variant	NM_170601.5(SIAE):c.723-17G>T	not provided [RCV002187734]	likely benign	11	124648192	124648192	Human		name
152142439	CV1526671	single nucleotide variant	NM_170601.5(SIAE):c.832+17C>G	not provided [RCV002084340]	likely benign	11	124648049	124648049	Human		name
152164981	CV1543666	single nucleotide variant	NM_170601.5(SIAE):c.544+20T>C	not provided [RCV002123920]	likely benign	11	124654635	124654635	Human		name
152094888	CV1561856	single nucleotide variant	NM_170601.5(SIAE):c.406-13A>C	not provided [RCV002194786]	likely benign	11	124654806	124654806	Human		name
152170966	CV1562030	single nucleotide variant	NM_170601.5(SIAE):c.967-17A>C	not provided [RCV002161944]	likely benign	11	124639884	124639884	Human		name
152151645	CV1598329	single nucleotide variant	NM_170601.5(SIAE):c.723-18T>C	not provided [RCV002121830]	likely benign	11	124648193	124648193	Human		name
152149835	CV1601503	single nucleotide variant	NM_170601.5(SIAE):c.967-13C>G	not provided [RCV002158007]	likely benign	11	124639880	124639880	Human		name
152163766	CV1646745	single nucleotide variant	NM_170601.5(SIAE):c.967-13C>T	not provided [RCV002160113]	likely benign	11	124639880	124639880	Human		name
152144054	CV1651596	single nucleotide variant	NM_170601.5(SIAE):c.833-13G>A	not provided [RCV002138546]	likely benign	11	124647511	124647511	Human		name
152063418	CV1664056	single nucleotide variant	NM_170601.5(SIAE):c.966+18G>C	not provided [RCV002073956]	likely benign	11	124647347	124647347	Human		name
156356777	CV1962470	single nucleotide variant	NM_170601.5(SIAE):c.405+17C>A	not provided [RCV002581445]	likely benign	11	124660611	124660611	Human		name
156352869	CV1965591	single nucleotide variant	NM_170601.5(SIAE):c.406-20C>T	not provided [RCV002581185]	likely benign	11	124654813	124654813	Human		name
156415965	CV1966361	single nucleotide variant	NM_170601.5(SIAE):c.967-17A>G	not provided [RCV002589455]	likely benign	11	124639884	124639884	Human		name
156058424	CV1974680	single nucleotide variant	NM_170601.5(SIAE):c.544+19G>A	not provided [RCV002590892]	likely benign	11	124654636	124654636	Human		name
156028805	CV2116710	single nucleotide variant	NM_170601.5(SIAE):c.544+11G>T	not provided [RCV002923420]	likely benign	11	124654644	124654644	Human		name
156378623	CV2117772	single nucleotide variant	NM_170601.5(SIAE):c.405+15C>T	not provided [RCV002942961]	likely benign	11	124660613	124660613	Human		name
156323466	CV2163054	single nucleotide variant	NM_170601.5(SIAE):c.832+10C>T	not provided [RCV003029330]	likely benign	11	124648056	124648056	Human		name
402517471	CV2856910	single nucleotide variant	NM_170601.5(SIAE):c.405+14T>C	not provided [RCV003575600]	likely benign	11	124660614	124660614	Human		name
405159085	CV2956648	single nucleotide variant	NM_170601.5(SIAE):c.230-13G>A	not provided [RCV003674466]	likely benign	11	124660816	124660816	Human		name
405114685	CV2956887	single nucleotide variant	NM_170601.5(SIAE):c.406-13A>G	not provided [RCV003666774]	uncertain significance	11	124654806	124654806	Human		name
405136323	CV2962957	single nucleotide variant	NM_170601.5(SIAE):c.722+11A>G	not provided [RCV003668738]	likely benign	11	124649608	124649608	Human		name
405235911	CV2973271	single nucleotide variant	NM_170601.5(SIAE):c.1125-7C>T	not provided [RCV003683079]	likely benign	11	124638744	124638744	Human		name
405196542	CV2976081	single nucleotide variant	NM_170601.5(SIAE):c.832+18T>A	not provided [RCV003677719]	likely benign	11	124648048	124648048	Human		name
402478254	CV3032943	single nucleotide variant	NM_170601.5(SIAE):c.545-20T>C	not provided [RCV003712539]	likely benign	11	124649816	124649816	Human		name
405010678	CV3127922	single nucleotide variant	NM_170601.5(SIAE):c.229+16T>G	not provided [RCV003828802]	likely benign	11	124669344	124669344	Human		name
405040746	CV3141089	single nucleotide variant	NM_170601.5(SIAE):c.405+17C>G	not provided [RCV003831382]	likely benign	11	124660611	124660611	Human		name
597877744	CV3744294	single nucleotide variant	NM_170601.5(SIAE):c.1125-2A>C	not provided [RCV005069508]	uncertain significance	11	124638739	124638739	Human		name
597923225	CV3777829	single nucleotide variant	NM_170601.5(SIAE):c.967-18A>G	not provided [RCV005130553]	likely benign	11	124639885	124639885	Human		name
597850932	CV3803702	single nucleotide variant	NM_170601.5(SIAE):c.230-15C>A	not provided [RCV005145419]	likely benign	11	124660818	124660818	Human		name
597910547	CV3806634	single nucleotide variant	NM_170601.5(SIAE):c.1124+6A>T	not provided [RCV005154201]	uncertain significance	11	124639704	124639704	Human		name
152060257	CV1628072	single nucleotide variant	NM_170601.5(SIAE):c.1125-12C>T	not provided [RCV002190439]	likely benign	11	124638749	124638749	Human		name
156323846	CV2022415	single nucleotide variant	NM_170601.5(SIAE):c.1320+16G>A	not provided [RCV002717274]	likely benign	11	124638526	124638526	Human		name
156151290	CV2049098	single nucleotide variant	NM_170601.5(SIAE):c.1321-10C>T	not provided [RCV002801299]	likely benign	11	124637212	124637212	Human		name
405223751	CV2919168	single nucleotide variant	NM_170601.5(SIAE):c.1321-16A>G	not provided [RCV003568819]	likely benign	11	124637218	124637218	Human		name
405118429	CV2949779	single nucleotide variant	NM_170601.5(SIAE):c.1321-18T>G	not provided [RCV003667176]	likely benign	11	124637220	124637220	Human		name
405206120	CV3033722	single nucleotide variant	NM_170601.5(SIAE):c.1124+12T>A	not provided [RCV003707949]	likely benign	11	124639698	124639698	Human		name
597900438	CV3783019	single nucleotide variant	NM_170601.5(SIAE):c.1125-16G>A	not provided [RCV005127039]	likely benign	11	124638753	124638753	Human		name
404999756	CV3120108	single nucleotide variant	NM_170601.5(SIAE):c.9G>A (p.Ala3=)	not provided [RCV003827898]	likely benign	11	124673700	124673700	Human		name
597860278	CV3748656	single nucleotide variant	NM_170601.5(SIAE):c.9G>T (p.Ala3=)	not provided [RCV005067288]	likely benign	11	124673700	124673700	Human		name
156371794	CV2031186	insertion	NM_170601.5(SIAE):c.544+1_544+2insC	not provided [RCV002721574]	uncertain significance	11	124654653	124654654	Human		name
156098433	CV2183726	single nucleotide variant	NM_170601.5(SIAE):c.15G>T (p.Gly5=)	not provided [RCV003054630]	likely benign	11	124673694	124673694	Human		name
597960301	CV3843614	single nucleotide variant	NM_170601.5(SIAE):c.24C>T (p.Leu8=)	not provided [RCV005192651]	likely benign	11	124673685	124673685	Human		name
127304765	CV1141997	single nucleotide variant	NM_170601.5(SIAE):c.8C>G (p.Ala3Gly)	SIAE-related disorder [RCV003931021]\|not provided [RCV001499730]	likely benign	11	124673701	124673701	Human	1	name , trait , alternate_id
151799912	CV1430738	single nucleotide variant	NM_170601.5(SIAE):c.1A>G (p.Met1Val)	not provided [RCV001877280]	uncertain significance	11	124673708	124673708	Human		name
151886151	CV1435475	single nucleotide variant	NM_170601.5(SIAE):c.3G>T (p.Met1Ile)	not provided [RCV001962701]	uncertain significance	11	124673706	124673706	Human		name
156445913	CV1952166	single nucleotide variant	NM_170601.5(SIAE):c.3G>A (p.Met1Ile)	not provided [RCV003116876]	uncertain significance	11	124673706	124673706	Human		name
156016632	CV1993312	single nucleotide variant	NM_170601.5(SIAE):c.2T>C (p.Met1Thr)	not provided [RCV002636498]	uncertain significance	11	124673707	124673707	Human		name
156057913	CV2008090	single nucleotide variant	NM_170601.5(SIAE):c.33G>T (p.Val11=)	not provided [RCV002705284]	likely benign	11	124673676	124673676	Human		name
156356470	CV2126094	single nucleotide variant	NM_170601.5(SIAE):c.96C>T (p.Ile32=)	not provided [RCV002966698]	likely benign	11	124669493	124669493	Human		name
405067846	CV2923706	single nucleotide variant	NM_170601.5(SIAE):c.40T>C (p.Leu14=)	not provided [RCV003580826]	likely benign	11	124673669	124673669	Human		name
597955889	CV3809581	single nucleotide variant	NM_170601.5(SIAE):c.48G>A (p.Leu16=)	not provided [RCV005162306]	likely benign	11	124673661	124673661	Human		name
126761391	CV1030126	single nucleotide variant	NM_170601.5(SIAE):c.25G>C (p.Gly9Arg)	SIAE-related disorder [RCV003405572]\|not provided [RCV001340678]\|not specified [RCV004679090]	uncertain significance	11	124673684	124673684	Human	1	name , trait , alternate_id
151795110	CV1411006	single nucleotide variant	NM_170601.5(SIAE):c.25G>A (p.Gly9Arg)	not provided [RCV001973407]	uncertain significance	11	124673684	124673684	Human		name
151869943	CV1416819	single nucleotide variant	NM_170601.5(SIAE):c.13G>A (p.Gly5Arg)	not provided [RCV001998200]	uncertain significance	11	124673696	124673696	Human		name
151797798	CV1470615	single nucleotide variant	NM_170601.5(SIAE):c.14G>C (p.Gly5Ala)	not provided [RCV001898778]\|not specified [RCV004042579]	uncertain significance	11	124673695	124673695	Human		name
152084608	CV1554925	single nucleotide variant	NM_170601.5(SIAE):c.174C>T (p.Thr58=)	not provided [RCV002211874]	likely benign	11	124669415	124669415	Human		name
152033249	CV1568041	single nucleotide variant	NM_170601.5(SIAE):c.243G>A (p.Thr81=)	not provided [RCV002205137]	likely benign	11	124660790	124660790	Human		name
152035956	CV1590531	single nucleotide variant	NM_170601.5(SIAE):c.291G>A (p.Val97=)	not provided [RCV002205578]	likely benign	11	124660742	124660742	Human		name
152097468	CV1611545	insertion	NM_170601.5(SIAE):c.229+11_229+12insT	not provided [RCV002172656]	likely benign	11	124669348	124669349	Human		name
152091715	CV1662251	microsatellite	NM_170601.5(SIAE):c.1320+8_1320+10del	SIAE-related disorder [RCV003951104]\|not provided [RCV002132126]	benign\|likely benign	11	124638532	124638534	Human		name , trait , alternate_id
156382301	CV1978985	single nucleotide variant	NM_170601.5(SIAE):c.20T>C (p.Val7Ala)	not provided [RCV002604052]	uncertain significance	11	124673689	124673689	Human		name
155951488	CV2076411	single nucleotide variant	NM_170601.5(SIAE):c.225G>A (p.Val75=)	not provided [RCV002862371]	likely benign	11	124669364	124669364	Human		name
156374639	CV2123978	single nucleotide variant	NM_170601.5(SIAE):c.150C>T (p.Phe50=)	not provided [RCV002942605]	likely benign	11	124669439	124669439	Human		name
155901311	CV2151527	single nucleotide variant	NM_170601.5(SIAE):c.204C>T (p.Ile68=)	not provided [RCV003011647]	likely benign	11	124669385	124669385	Human		name
156078252	CV2173638	single nucleotide variant	NM_170601.5(SIAE):c.25G>T (p.Gly9Trp)	not provided [RCV003053939]	uncertain significance	11	124673684	124673684	Human		name
405181119	CV2914115	single nucleotide variant	NM_170601.5(SIAE):c.285C>T (p.Phe95=)	not provided [RCV003563976]	likely benign	11	124660748	124660748	Human		name
404994341	CV2996065	single nucleotide variant	NM_170601.5(SIAE):c.156A>C (p.Thr52=)	not provided [RCV003692593]	likely benign	11	124669433	124669433	Human		name
405258609	CV3203941	single nucleotide variant	NM_170601.5(SIAE):c.255A>G (p.Val85=)	SIAE-related disorder [RCV003942098]\|not provided [RCV005064831]	likely benign	11	124660778	124660778	Human	1	name , trait , alternate_id
597946393	CV3755577	single nucleotide variant	NM_170601.5(SIAE):c.10C>G (p.Pro4Ala)	not provided [RCV005078587]	uncertain significance	11	124673699	124673699	Human		name
127281634	CV1077940	single nucleotide variant	NM_170601.5(SIAE):c.642C>T (p.Ile214=)	not provided [RCV001410611]	likely benign	11	124649699	124649699	Human		name
127243027	CV1077941	single nucleotide variant	NM_170601.5(SIAE):c.327C>T (p.Thr109=)	not provided [RCV001416052]	likely benign	11	124660706	124660706	Human		name
127298779	CV1156630	single nucleotide variant	NM_170601.5(SIAE):c.633C>T (p.Ile211=)	SIAE-related disorder [RCV003940910]\|not provided [RCV001513409]	benign	11	124649708	124649708	Human	1	name , trait , alternate_id
127322083	CV1156631	single nucleotide variant	NM_170601.5(SIAE):c.573C>T (p.Tyr191=)	not provided [RCV001523368]	benign	11	124649768	124649768	Human		name
127311988	CV1156633	single nucleotide variant	NM_170601.5(SIAE):c.468T>C (p.Ser156=)	SIAE-related disorder [RCV003980570]\|not provided [RCV001518805]	benign	11	124654731	124654731	Human	1	name , trait , alternate_id
151833089	CV1348157	single nucleotide variant	NM_170601.5(SIAE):c.633C>A (p.Ile211=)	not provided [RCV001880496]	uncertain significance	11	124649708	124649708	Human		name
151833956	CV1384756	single nucleotide variant	NM_170601.5(SIAE):c.441G>A (p.Ala147=)	not provided [RCV001955958]	likely benign\|uncertain significance	11	124654758	124654758	Human		name
151877204	CV1461521	single nucleotide variant	NM_170601.5(SIAE):c.642C>A (p.Ile214=)	not provided [RCV001925970]	likely benign\|uncertain significance	11	124649699	124649699	Human		name
151879700	CV1490917	single nucleotide variant	NM_170601.5(SIAE):c.59G>C (p.Arg20Thr)	not provided [RCV001940838]	uncertain significance	11	124673650	124673650	Human		name
152081714	CV1546802	single nucleotide variant	NM_170601.5(SIAE):c.819A>C (p.Val273=)	not provided [RCV002130901]	likely benign	11	124648079	124648079	Human		name
152168218	CV1547918	single nucleotide variant	NM_170601.5(SIAE):c.342C>T (p.Asp114=)	not provided [RCV002161058]	likely benign	11	124660691	124660691	Human		name
152073773	CV1551938	single nucleotide variant	NM_170601.5(SIAE):c.420A>G (p.Thr140=)	not provided [RCV002075452]	likely benign	11	124654779	124654779	Human		name
152074061	CV1556775	single nucleotide variant	NM_170601.5(SIAE):c.852T>C (p.Tyr284=)	not provided [RCV002111853]	likely benign	11	124647479	124647479	Human		name
152095903	CV1559673	single nucleotide variant	NM_170601.5(SIAE):c.429G>A (p.Leu143=)	not provided [RCV002213353]	likely benign	11	124654770	124654770	Human		name
152138489	CV1563531	single nucleotide variant	NM_170601.5(SIAE):c.417T>C (p.Ala139=)	not provided [RCV002200269]	likely benign	11	124654782	124654782	Human		name
152068085	CV1571116	single nucleotide variant	NM_170601.5(SIAE):c.513G>A (p.Ala171=)	not provided [RCV002129240]	likely benign	11	124654686	124654686	Human		name
152128248	CV1572222	single nucleotide variant	NM_170601.5(SIAE):c.669T>C (p.Ile223=)	not provided [RCV002217707]	likely benign	11	124649672	124649672	Human		name
152127494	CV1581110	single nucleotide variant	NM_170601.5(SIAE):c.891C>T (p.Ile297=)	not provided [RCV002099021]	likely benign	11	124647440	124647440	Human		name
152063855	CV1587923	single nucleotide variant	NM_170601.5(SIAE):c.936G>A (p.Thr312=)	not provided [RCV002090606]	likely benign	11	124647395	124647395	Human		name
152026474	CV1594582	single nucleotide variant	NM_170601.5(SIAE):c.735C>T (p.Tyr245=)	not provided [RCV002104569]	likely benign	11	124648163	124648163	Human		name
152172344	CV1599084	single nucleotide variant	NM_170601.5(SIAE):c.660G>C (p.Gly220=)	not provided [RCV002143746]	likely benign	11	124649681	124649681	Human		name
152071012	CV1630659	single nucleotide variant	NM_170601.5(SIAE):c.879C>T (p.Phe293=)	not provided [RCV002129620]	benign	11	124647452	124647452	Human		name
152147217	CV1653620	single nucleotide variant	NM_170601.5(SIAE):c.427T>C (p.Leu143=)	not provided [RCV002138982]	likely benign	11	124654772	124654772	Human		name
155708071	CV1772783	single nucleotide variant	NM_170601.5(SIAE):c.58A>G (p.Arg20Gly)	not provided [RCV002300429]	uncertain significance	11	124673651	124673651	Human		name
155730406	CV1776267	single nucleotide variant	NM_170601.5(SIAE):c.47T>C (p.Leu16Pro)	not provided [RCV002301671]	uncertain significance	11	124673662	124673662	Human		name
156216131	CV1903350	single nucleotide variant	NM_170601.5(SIAE):c.98A>G (p.Asn33Ser)	not provided [RCV003084805]	uncertain significance	11	124669491	124669491	Human		name
156440473	CV1943524	single nucleotide variant	NM_170601.5(SIAE):c.858G>A (p.Thr286=)	not provided [RCV003110508]	likely benign\|uncertain significance	11	124647473	124647473	Human		name
156437644	CV1947653	single nucleotide variant	NM_170601.5(SIAE):c.507T>C (p.Leu169=)	not provided [RCV003107184]	likely benign	11	124654692	124654692	Human		name
156036834	CV2002683	single nucleotide variant	NM_170601.5(SIAE):c.459C>T (p.Arg153=)	not provided [RCV002658882]	likely benign	11	124654740	124654740	Human		name
156281769	CV2016375	single nucleotide variant	NM_170601.5(SIAE):c.495G>A (p.Glu165=)	not provided [RCV002715324]	likely benign	11	124654704	124654704	Human		name
156230889	CV2039661	single nucleotide variant	NM_170601.5(SIAE):c.951A>G (p.Pro317=)	not provided [RCV002805309]	likely benign	11	124647380	124647380	Human		name
156333168	CV2061491	deletion	NM_170601.5(SIAE):c.133del (p.Ala45fs)	not provided [RCV002810798]	uncertain significance	11	124669456	124669456	Human		name
156310418	CV2063368	single nucleotide variant	NM_170601.5(SIAE):c.99T>A (p.Asn33Lys)	not provided [RCV002834088]	uncertain significance	11	124669490	124669490	Human		name
156174385	CV2181357	single nucleotide variant	NM_170601.5(SIAE):c.414T>C (p.Asn138=)	not provided [RCV003057321]	likely benign	11	124654785	124654785	Human		name
156293566	CV2183151	single nucleotide variant	NM_170601.5(SIAE):c.912C>T (p.Phe304=)	not provided [RCV003027780]	likely benign	11	124647419	124647419	Human		name
329360598	CV2458868	single nucleotide variant	NM_170601.5(SIAE):c.79C>T (p.Arg27Cys)	not specified [RCV004270281]	uncertain significance	11	124669510	124669510	Human		name
405074678	CV2872957	single nucleotide variant	NM_170601.5(SIAE):c.808C>T (p.Leu270=)	not provided [RCV003548637]	likely benign	11	124648090	124648090	Human		name
405127420	CV2883082	single nucleotide variant	NM_170601.5(SIAE):c.660G>T (p.Gly220=)	not provided [RCV003559707]	likely benign	11	124649681	124649681	Human		name
405209507	CV2910178	deletion	NM_170601.5(SIAE):c.149del (p.Phe50fs)	not provided [RCV003566960]	uncertain significance	11	124669440	124669440	Human		name
405065528	CV2937216	single nucleotide variant	NM_170601.5(SIAE):c.855C>T (p.Asn285=)	not provided [RCV003663662]	likely benign	11	124647476	124647476	Human		name
405087210	CV2943289	single nucleotide variant	NM_170601.5(SIAE):c.444A>G (p.Ala148=)	not provided [RCV003665033]	likely benign	11	124654755	124654755	Human		name
405235193	CV2976465	single nucleotide variant	NM_170601.5(SIAE):c.921T>C (p.Gly307=)	not provided [RCV003682953]	likely benign	11	124647410	124647410	Human		name
405149164	CV3024177	duplication	NM_170601.5(SIAE):c.146dup (p.Phe50fs)	not provided [RCV003703077]	uncertain significance	11	124669442	124669443	Human		name
405159898	CV3061784	single nucleotide variant	NM_170601.5(SIAE):c.657C>T (p.Gly219=)	not provided [RCV003727022]	likely benign	11	124649684	124649684	Human		name
405038885	CV3067771	single nucleotide variant	NM_170601.5(SIAE):c.50G>C (p.Trp17Ser)	not provided [RCV003739755]	uncertain significance	11	124673659	124673659	Human		name
405202074	CV3129276	single nucleotide variant	NM_170601.5(SIAE):c.70A>T (p.Ile24Phe)	not provided [RCV003822129]\|not specified [RCV004366837]	uncertain significance	11	124669519	124669519	Human		name
405106759	CV3136174	single nucleotide variant	NM_170601.5(SIAE):c.864G>C (p.Leu288=)	not provided [RCV003835520]	likely benign	11	124647467	124647467	Human		name
405220967	CV3157847	single nucleotide variant	NM_170601.5(SIAE):c.621G>A (p.Leu207=)	not provided [RCV003863539]	likely benign	11	124649720	124649720	Human		name
402466097	CV3177396	single nucleotide variant	NM_170601.5(SIAE):c.810G>A (p.Leu270=)	not provided [RCV003873027]	likely benign	11	124648088	124648088	Human		name
405272336	CV3199283	single nucleotide variant	NM_170601.5(SIAE):c.873C>T (p.Cys291=)	SIAE-related disorder [RCV003914233]	likely benign	11	124647458	124647458	Human		name , trait , alternate_id
597898662	CV3740850	single nucleotide variant	NM_170601.5(SIAE):c.624G>A (p.Gln208=)	not provided [RCV005072013]	likely benign	11	124649717	124649717	Human		name
597939357	CV3756819	single nucleotide variant	NM_170601.5(SIAE):c.597T>C (p.Phe199=)	not provided [RCV005077200]	likely benign	11	124649744	124649744	Human		name
597973895	CV3801618	single nucleotide variant	NM_170601.5(SIAE):c.978T>C (p.Asp326=)	not provided [RCV005143607]	likely benign	11	124639856	124639856	Human		name
597971175	CV3802471	single nucleotide variant	NM_170601.5(SIAE):c.840C>T (p.Ser280=)	not provided [RCV005142069]	likely benign	11	124647491	124647491	Human		name
597857891	CV3822331	deletion	NM_170601.5(SIAE):c.284del (p.Phe95fs)	not provided [RCV005174629]	uncertain significance	11	124660749	124660749	Human		name
597873380	CV3836291	single nucleotide variant	NM_170601.5(SIAE):c.891C>A (p.Ile297=)	not provided [RCV005177088]	likely benign	11	124647440	124647440	Human		name
597964378	CV3848038	single nucleotide variant	NM_170601.5(SIAE):c.64G>A (p.Ala22Thr)	not provided [RCV005193917]	uncertain significance	11	124673645	124673645	Human		name
597899970	CV3850872	single nucleotide variant	NM_170601.5(SIAE):c.858G>C (p.Thr286=)	not provided [RCV005201856]	likely benign	11	124647473	124647473	Human		name
597897147	CV3854325	single nucleotide variant	NM_170601.5(SIAE):c.690G>A (p.Arg230=)	not provided [RCV005201432]	likely benign	11	124649651	124649651	Human		name
127311982	CV1156627	single nucleotide variant	NM_170601.5(SIAE):c.1452G>A (p.Thr484=)	SIAE-related disorder [RCV003983945]\|not provided [RCV001518804]	benign	11	124637071	124637071	Human	1	name , trait , alternate_id
127295516	CV1156628	single nucleotide variant	NM_170601.5(SIAE):c.1041C>T (p.Phe347=)	not provided [RCV001512229]	benign	11	124639793	124639793	Human		name
127311996	CV1156637	single nucleotide variant	NM_170601.5(SIAE):c.212A>G (p.Lys71Arg)	not provided [RCV001518806]	benign	11	124669377	124669377	Human	1	name
127311996	CV1156637	single nucleotide variant	NM_170601.5(SIAE):c.212A>G (p.Lys71Arg)	not provided [RCV001518806]	benign	11	124669377	124669378	Human	1	name
151798554	CV1337192	single nucleotide variant	NM_170601.5(SIAE):c.286G>A (p.Glu96Lys)	not provided [RCV002047768]	uncertain significance	11	124660747	124660747	Human		name
151796059	CV1355943	single nucleotide variant	NM_170601.5(SIAE):c.108G>A (p.Met36Ile)	not provided [RCV002027655]	uncertain significance	11	124669481	124669481	Human		name
151751734	CV1357399	deletion	NM_170601.5(SIAE):c.597del (p.Phe199fs)	not provided [RCV001894399]	uncertain significance	11	124649744	124649744	Human		name
151843833	CV1363350	single nucleotide variant	NM_170601.5(SIAE):c.262C>G (p.Pro88Ala)	not provided [RCV002032141]\|not specified [RCV005281118]	uncertain significance	11	124660771	124660771	Human		name
151709496	CV1409279	single nucleotide variant	NM_170601.5(SIAE):c.242C>T (p.Thr81Met)	not provided [RCV001907693]	uncertain significance	11	124660791	124660791	Human		name
151773165	CV1414372	single nucleotide variant	NM_170601.5(SIAE):c.107T>C (p.Met36Thr)	not provided [RCV001874645]	uncertain significance	11	124669482	124669482	Human		name
151821938	CV1449743	single nucleotide variant	NM_170601.5(SIAE):c.1258C>T (p.Leu420=)	not provided [RCV002013472]	likely benign	11	124638604	124638604	Human		name
151733456	CV1494123	single nucleotide variant	NM_170601.5(SIAE):c.133G>T (p.Ala45Ser)	not provided [RCV001946288]	uncertain significance	11	124669456	124669456	Human		name
151767128	CV1496136	single nucleotide variant	NM_170601.5(SIAE):c.277G>A (p.Gly93Arg)	not provided [RCV001863721]	uncertain significance	11	124660756	124660756	Human		name
151771054	CV1502566	single nucleotide variant	NM_170601.5(SIAE):c.250G>A (p.Val84Met)	not provided [RCV001896339]	uncertain significance	11	124660783	124660783	Human		name
152122033	CV1521541	single nucleotide variant	NM_170601.5(SIAE):c.1440T>C (p.Tyr480=)	not provided [RCV002135831]	likely benign	11	124637083	124637083	Human		name
152088308	CV1527386	single nucleotide variant	NM_170601.5(SIAE):c.1482A>G (p.Leu494=)	not provided [RCV002093821]	benign	11	124637041	124637041	Human		name
152086874	CV1531842	single nucleotide variant	NM_170601.5(SIAE):c.1002T>C (p.Asp334=)	not provided [RCV002077100]	likely benign	11	124639832	124639832	Human		name
152109761	CV1563930	single nucleotide variant	NM_170601.5(SIAE):c.1476T>C (p.Cys492=)	not provided [RCV002174185]	likely benign	11	124637047	124637047	Human		name
152054779	CV1610040	single nucleotide variant	NM_170601.5(SIAE):c.1365T>A (p.Ser455=)	not provided [RCV002167296]	likely benign	11	124637158	124637158	Human		name
152116521	CV1611008	single nucleotide variant	NM_170601.5(SIAE):c.1017C>T (p.Ile339=)	not provided [RCV002135162]	likely benign	11	124639817	124639817	Human		name
152148310	CV1618876	single nucleotide variant	NM_170601.5(SIAE):c.1449C>T (p.Thr483=)	not provided [RCV002121394]	likely benign	11	124637074	124637074	Human		name
152070503	CV1630432	single nucleotide variant	NM_170601.5(SIAE):c.1113G>A (p.Ser371=)	not provided [RCV002129556]	likely benign	11	124639721	124639721	Human		name
8595387	CV16391	single nucleotide variant	NM_170601.5(SIAE):c.265A>G (p.Met89Val)	Autoimmune disease, susceptibility to, 6 [RCV000001417]\|not provided [RCV001522184]	risk factor\|benign	11	124660768	124660768	Human	3	name
152165126	CV1648963	single nucleotide variant	NM_170601.5(SIAE):c.1491C>A (p.Pro497=)	not provided [RCV002204176]	likely benign	11	124637032	124637032	Human		name
152040905	CV1649280	single nucleotide variant	NM_170601.5(SIAE):c.151G>A (p.Gly51Ser)	not provided [RCV002206328]	likely benign	11	124669438	124669438	Human		name
156411953	CV1894102	single nucleotide variant	NM_170601.5(SIAE):c.1038C>T (p.Asp346=)	not provided [RCV003072695]	likely benign	11	124639796	124639796	Human		name
156262432	CV1902772	single nucleotide variant	NM_170601.5(SIAE):c.236C>G (p.Ser79Cys)	not provided [RCV003086489]	uncertain significance	11	124660797	124660797	Human		name
156410717	CV1958495	single nucleotide variant	NM_170601.5(SIAE):c.184C>T (p.Arg62Cys)	not provided [RCV002587243]\|not specified [RCV004064518]	likely benign\|uncertain significance	11	124669405	124669405	Human		name
155914579	CV1990381	deletion	NM_170601.5(SIAE):c.956del (p.Gly319fs)	not provided [RCV002614236]	uncertain significance	11	124647375	124647375	Human		name
156190465	CV1994592	single nucleotide variant	NM_170601.5(SIAE):c.191G>A (p.Gly64Asp)	not provided [RCV002643296]	uncertain significance	11	124669398	124669398	Human		name
156272108	CV2004199	single nucleotide variant	NM_170601.5(SIAE):c.1299A>G (p.Lys433=)	not provided [RCV002646566]	likely benign	11	124638563	124638563	Human		name
156159895	CV2009422	single nucleotide variant	NM_170601.5(SIAE):c.1170G>A (p.Leu390=)	not provided [RCV002710131]	likely benign	11	124638692	124638692	Human		name
156322401	CV2022224	duplication	NM_170601.5(SIAE):c.483dup (p.Ala162fs)	not provided [RCV002717182]	uncertain significance	11	124654715	124654716	Human		name
156149333	CV2022984	single nucleotide variant	NM_170601.5(SIAE):c.1542T>C (p.Gly514=)	not provided [RCV002741172]	likely benign	11	124636981	124636981	Human		name
155932971	CV2035181	single nucleotide variant	NM_170601.5(SIAE):c.272C>G (p.Pro91Arg)	not provided [RCV002751263]	uncertain significance	11	124660761	124660761	Human		name
156182729	CV2058808	single nucleotide variant	NM_170601.5(SIAE):c.1098C>G (p.Leu366=)	not provided [RCV002828356]	likely benign	11	124639736	124639736	Human		name
156217421	CV2070729	single nucleotide variant	NM_170601.5(SIAE):c.1416T>C (p.His472=)	not provided [RCV002829553]	likely benign	11	124637107	124637107	Human		name
156226898	CV2097480	deletion	NM_170601.5(SIAE):c.666del (p.Ile223fs)	not provided [RCV002894403]	uncertain significance	11	124649675	124649675	Human		name
156219092	CV2128143	single nucleotide variant	NM_170601.5(SIAE):c.259G>A (p.Asp87Asn)	not provided [RCV002958068]	uncertain significance	11	124660774	124660774	Human		name
156102451	CV2132354	single nucleotide variant	NM_170601.5(SIAE):c.1425G>A (p.Val475=)	not provided [RCV003002266]	likely benign\|uncertain significance	11	124637098	124637098	Human		name
156279711	CV2137484	single nucleotide variant	NM_170601.5(SIAE):c.1464A>G (p.Glu488=)	not provided [RCV003009553]	likely benign	11	124637059	124637059	Human		name
156303285	CV2156694	deletion	NM_170601.5(SIAE):c.982del (p.Ser328fs)	not provided [RCV003010488]	uncertain significance	11	124639852	124639852	Human		name
156241922	CV2173415	single nucleotide variant	NM_170601.5(SIAE):c.1050C>T (p.Val350=)	not provided [RCV003043472]	likely benign	11	124639784	124639784	Human		name
155938878	CV2225235	single nucleotide variant	NM_170601.5(SIAE):c.205A>G (p.Met69Val)	not specified [RCV004098887]	uncertain significance	11	124669384	124669384	Human		name
156048939	CV2391050	single nucleotide variant	NM_170601.5(SIAE):c.161G>A (p.Gly54Glu)	not specified [RCV004235044]	uncertain significance	11	124669428	124669428	Human		name
405047802	CV2856379	single nucleotide variant	NM_170601.5(SIAE):c.214G>A (p.Val72Met)	not provided [RCV003579574]	uncertain significance	11	124669375	124669375	Human		name
402514185	CV2860344	single nucleotide variant	NM_170601.5(SIAE):c.278G>A (p.Gly93Glu)	not provided [RCV003575349]	uncertain significance	11	124660755	124660755	Human		name
405211325	CV2868036	single nucleotide variant	NM_170601.5(SIAE):c.1101T>C (p.Cys367=)	not provided [RCV003552641]	likely benign	11	124639733	124639733	Human		name
405109447	CV2898794	single nucleotide variant	NM_170601.5(SIAE):c.143G>A (p.Trp48Ter)	not provided [RCV003557689]	uncertain significance	11	124669446	124669446	Human		name
402464179	CV2919197	single nucleotide variant	NM_170601.5(SIAE):c.144G>T (p.Trp48Cys)	not provided [RCV003568837]	uncertain significance	11	124669445	124669445	Human		name
405081652	CV2941885	single nucleotide variant	NM_170601.5(SIAE):c.1479C>T (p.Pro493=)	not provided [RCV003664661]	likely benign	11	124637044	124637044	Human		name
405077759	CV2945298	single nucleotide variant	NM_170601.5(SIAE):c.1365T>C (p.Ser455=)	not provided [RCV003664374]	likely benign	11	124637158	124637158	Human		name
405241329	CV2970730	single nucleotide variant	NM_170601.5(SIAE):c.157C>A (p.Pro53Thr)	not provided [RCV003684103]	uncertain significance	11	124669432	124669432	Human		name
402495571	CV3005727	single nucleotide variant	NM_170601.5(SIAE):c.155C>T (p.Thr52Ile)	not provided [RCV003687977]	uncertain significance	11	124669434	124669434	Human		name
405182218	CV3024445	single nucleotide variant	NM_170601.5(SIAE):c.175G>A (p.Val59Met)	not provided [RCV003705649]	uncertain significance	11	124669414	124669414	Human		name
405209303	CV3034199	single nucleotide variant	NM_170601.5(SIAE):c.117G>C (p.Gln39His)	not provided [RCV003708431]	uncertain significance	11	124669472	124669472	Human		name
405181546	CV3057348	single nucleotide variant	NM_170601.5(SIAE):c.166A>G (p.Thr56Ala)	not provided [RCV003728829]\|not specified [RCV005281468]	likely benign\|uncertain significance	11	124669423	124669423	Human		name
405130804	CV3133401	single nucleotide variant	NM_170601.5(SIAE):c.202A>G (p.Ile68Val)	not provided [RCV003838371]	uncertain significance	11	124669387	124669387	Human		name
402518389	CV3135990	single nucleotide variant	NM_170601.5(SIAE):c.1443T>C (p.Ala481=)	not provided [RCV003824616]	likely benign	11	124637080	124637080	Human		name
405225940	CV3142445	single nucleotide variant	NM_170601.5(SIAE):c.185G>A (p.Arg62His)	not provided [RCV003847984]	uncertain significance	11	124669404	124669404	Human		name
405231110	CV3144452	single nucleotide variant	NM_170601.5(SIAE):c.136G>C (p.Val46Leu)	not provided [RCV003852905]	uncertain significance	11	124669453	124669453	Human		name
405249658	CV3180505	single nucleotide variant	NM_170601.5(SIAE):c.1200G>A (p.Lys400=)	not provided [RCV003869781]	likely benign	11	124638662	124638662	Human		name
597937589	CV3774719	single nucleotide variant	NM_170601.5(SIAE):c.1383C>T (p.Thr461=)	not provided [RCV005117752]	likely benign	11	124637140	124637140	Human		name
597900790	CV3783063	single nucleotide variant	NM_170601.5(SIAE):c.1029A>G (p.Gln343=)	not provided [RCV005127083]	likely benign	11	124639805	124639805	Human		name
597933869	CV3793480	single nucleotide variant	NM_170601.5(SIAE):c.1140T>C (p.Asp380=)	not provided [RCV005132136]	likely benign	11	124638722	124638722	Human		name
597933918	CV3793489	deletion	NM_170601.5(SIAE):c.739del (p.Ser247fs)	not provided [RCV005132145]	uncertain significance	11	124648159	124648159	Human		name
597833090	CV3831452	single nucleotide variant	NM_170601.5(SIAE):c.207G>A (p.Met69Ile)	not provided [RCV005170654]	uncertain significance	11	124669382	124669382	Human		name
597914439	CV3851107	deletion	NM_170601.5(SIAE):c.894del (p.Asp299fs)	not provided [RCV005204075]	uncertain significance	11	124647437	124647437	Human		name
597920131	CV3851972	single nucleotide variant	NM_170601.5(SIAE):c.239A>G (p.Asp80Gly)	not provided [RCV005204952]	uncertain significance	11	124660794	124660794	Human		name
597933149	CV3862175	single nucleotide variant	NM_170601.5(SIAE):c.1488C>T (p.His496=)	not provided [RCV005207039]	likely benign	11	124637035	124637035	Human		name
15110581	CV712681	single nucleotide variant	NM_170601.5(SIAE):c.190G>A (p.Gly64Ser)	not provided [RCV000960931]	benign	11	124669399	124669399	Human		name
15151294	CV724278	single nucleotide variant	NM_170601.5(SIAE):c.1020T>C (p.Arg340=)	not provided [RCV000879566]	benign	11	124639814	124639814	Human		name
126772989	CV1009570	single nucleotide variant	NM_170601.5(SIAE):c.949C>T (p.Pro317Ser)	not provided [RCV001324064]	uncertain significance	11	124647382	124647382	Human		name
126742158	CV1009571	single nucleotide variant	NM_170601.5(SIAE):c.688C>T (p.Arg230Trp)	not provided [RCV001325443]	uncertain significance	11	124649653	124649653	Human		name
126748891	CV1030125	single nucleotide variant	NM_170601.5(SIAE):c.601C>T (p.Arg201Cys)	not provided [RCV001337744]	uncertain significance	11	124649740	124649740	Human		name
126910978	CV1038037	single nucleotide variant	NM_170601.5(SIAE):c.886C>T (p.Leu296Phe)	not provided [RCV001354868]	benign\|uncertain significance	11	124647445	124647445	Human		name
126911381	CV1038038	single nucleotide variant	NM_170601.5(SIAE):c.301C>A (p.Gln101Lys)	not provided [RCV001355284]	uncertain significance	11	124660732	124660732	Human		name
127326343	CV1141996	single nucleotide variant	NM_170601.5(SIAE):c.860A>T (p.Asp287Val)	SIAE-related disorder [RCV003980461]\|not provided [RCV001506264]	benign\|likely benign	11	124647471	124647471	Human	1	name , trait , alternate_id
127296762	CV1156629	single nucleotide variant	NM_170601.5(SIAE):c.736G>A (p.Asp246Asn)	not provided [RCV001512644]	benign	11	124648162	124648162	Human		name
151748108	CV1353140	single nucleotide variant	NM_170601.5(SIAE):c.752C>T (p.Pro251Leu)	not provided [RCV001912678]	uncertain significance	11	124648146	124648146	Human		name
151862969	CV1353567	single nucleotide variant	NM_170601.5(SIAE):c.556C>T (p.His186Tyr)	not provided [RCV001924240]	uncertain significance	11	124649785	124649785	Human		name
151746138	CV1361159	single nucleotide variant	NM_170601.5(SIAE):c.857C>G (p.Thr286Arg)	not provided [RCV001871536]	uncertain significance	11	124647474	124647474	Human		name
151886189	CV1367312	single nucleotide variant	NM_170601.5(SIAE):c.538A>C (p.Thr180Pro)	not provided [RCV002000635]	uncertain significance	11	124654661	124654661	Human		name
151781907	CV1381296	single nucleotide variant	NM_170601.5(SIAE):c.602G>A (p.Arg201His)	not provided [RCV001875437]	uncertain significance	11	124649739	124649739	Human		name
151768701	CV1383467	single nucleotide variant	NM_170601.5(SIAE):c.796T>C (p.Cys266Arg)	not provided [RCV001874232]	uncertain significance	11	124648102	124648102	Human		name
151830836	CV1384502	single nucleotide variant	NM_170601.5(SIAE):c.985A>G (p.Lys329Glu)	not provided [RCV001955665]	uncertain significance	11	124639849	124639849	Human		name
151887912	CV1409244	single nucleotide variant	NM_170601.5(SIAE):c.969A>C (p.Leu323Phe)	not provided [RCV001942488]	uncertain significance	11	124639865	124639865	Human		name
151781412	CV1419002	single nucleotide variant	NM_170601.5(SIAE):c.709G>T (p.Val237Phe)	not provided [RCV001915914]	uncertain significance	11	124649632	124649632	Human		name
151781159	CV1426635	single nucleotide variant	NM_170601.5(SIAE):c.617C>T (p.Thr206Ile)	not provided [RCV002009758]	uncertain significance	11	124649724	124649724	Human		name
151744746	CV1428058	single nucleotide variant	NM_170601.5(SIAE):c.509T>C (p.Val170Ala)	not provided [RCV001926833]\|not specified [RCV004044278]	likely benign\|uncertain significance	11	124654690	124654690	Human		name
151727640	CV1430141	single nucleotide variant	NM_170601.5(SIAE):c.689G>A (p.Arg230Gln)	not provided [RCV002004454]	uncertain significance	11	124649652	124649652	Human		name
151793998	CV1434194	single nucleotide variant	NM_170601.5(SIAE):c.481C>A (p.Gln161Lys)	not provided [RCV001866511]	uncertain significance	11	124654718	124654718	Human		name
151816928	CV1441080	single nucleotide variant	NM_170601.5(SIAE):c.599G>T (p.Gly200Val)	not provided [RCV001933763]	uncertain significance	11	124649742	124649742	Human		name
151848186	CV1441774	single nucleotide variant	NM_170601.5(SIAE):c.901C>T (p.Arg301Cys)	not provided [RCV001995612]	uncertain significance	11	124647430	124647430	Human		name
151825613	CV1442812	single nucleotide variant	NM_170601.5(SIAE):c.469G>C (p.Val157Leu)	not provided [RCV002013805]	uncertain significance	11	124654730	124654730	Human		name
151869826	CV1444092	single nucleotide variant	NM_170601.5(SIAE):c.926A>G (p.Gln309Arg)	not provided [RCV001925054]\|not specified [RCV004041723]	uncertain significance	11	124647405	124647405	Human		name
151840545	CV1462490	single nucleotide variant	NM_170601.5(SIAE):c.986A>C (p.Lys329Thr)	not provided [RCV002015279]	uncertain significance	11	124639848	124639848	Human		name
151807159	CV1462680	single nucleotide variant	NM_170601.5(SIAE):c.457C>T (p.Arg153Cys)	not provided [RCV001991479]	uncertain significance	11	124654742	124654742	Human		name
151751704	CV1464247	single nucleotide variant	NM_170601.5(SIAE):c.643G>A (p.Ala215Thr)	not provided [RCV001948202]	uncertain significance	11	124649698	124649698	Human		name
151718532	CV1469358	single nucleotide variant	NM_170601.5(SIAE):c.321C>G (p.Asn107Lys)	not provided [RCV002039713]	uncertain significance	11	124660712	124660712	Human		name
151715847	CV1472688	single nucleotide variant	NM_170601.5(SIAE):c.528G>A (p.Trp176Ter)	not provided [RCV002039324]	uncertain significance	11	124654671	124654671	Human		name
151807347	CV1483324	single nucleotide variant	NM_170601.5(SIAE):c.941G>A (p.Arg314His)	not provided [RCV001918272]	uncertain significance	11	124647390	124647390	Human		name
151876052	CV1489933	single nucleotide variant	NM_170601.5(SIAE):c.658G>A (p.Gly220Arg)	not provided [RCV001940410]\|not specified [RCV004043615]	uncertain significance	11	124649683	124649683	Human		name
151792181	CV1490101	single nucleotide variant	NM_170601.5(SIAE):c.512C>T (p.Ala171Val)	not provided [RCV001952152]	uncertain significance	11	124654687	124654687	Human		name
151829655	CV1491567	single nucleotide variant	NM_170601.5(SIAE):c.673G>A (p.Ala225Thr)	not provided [RCV002030673]	uncertain significance	11	124649668	124649668	Human		name
151764571	CV1499577	duplication	NM_170601.5(SIAE):c.1483dup (p.Tyr495fs)	not provided [RCV001863482]	uncertain significance	11	124637039	124637040	Human		name
151806658	CV1505137	single nucleotide variant	NM_170601.5(SIAE):c.916C>T (p.Arg306Cys)	not provided [RCV002048470]	uncertain significance	11	124647415	124647415	Human		name
151825136	CV1507074	single nucleotide variant	NM_170601.5(SIAE):c.358G>A (p.Val120Ile)	not provided [RCV001955144]	uncertain significance	11	124660675	124660675	Human		name
151798765	CV1509210	single nucleotide variant	NM_170601.5(SIAE):c.390G>C (p.Gln130His)	not provided [RCV001866934]	uncertain significance	11	124660643	124660643	Human		name
151714845	CV1510474	single nucleotide variant	NM_170601.5(SIAE):c.825G>C (p.Trp275Cys)	not provided [RCV001965025]	uncertain significance	11	124648073	124648073	Human		name
151749868	CV1512056	single nucleotide variant	NM_170601.5(SIAE):c.820G>A (p.Val274Ile)	not provided [RCV001986175]\|not specified [RCV005281074]	likely benign\|uncertain significance	11	124648078	124648078	Human		name
151709258	CV1514879	single nucleotide variant	NM_170601.5(SIAE):c.950C>T (p.Pro317Leu)	not provided [RCV002001614]	uncertain significance	11	124647381	124647381	Human		name
8595385	CV16389	single nucleotide variant	NM_170601.5(SIAE):c.935C>T (p.Thr312Met)	Autoimmune disease, susceptibility to, 6 [RCV000001415]\|not provided [RCV001851542]	risk factor\|uncertain significance	11	124647396	124647396	Human	2	name
8595385	CV16389	single nucleotide variant	NM_170601.5(SIAE):c.935C>T (p.Thr312Met)	Autoimmune disease, susceptibility to, 6 [RCV000001415]\|not provided [RCV001851542]	risk factor\|uncertain significance	11	124647396	124647397	Human	2	name
8595386	CV16390	single nucleotide variant	NM_170601.5(SIAE):c.587G>T (p.Cys196Phe)	Autoimmune disease, susceptibility to, 6 [RCV000001416]\|SIAE-related disorder [RCV003904793]\|not provided [RCV001300743]\|not specified [RCV005237345]	risk factor\|uncertain significance	11	124649754	124649754	Human	2	name , trait , alternate_id
8595386	CV16390	single nucleotide variant	NM_170601.5(SIAE):c.587G>T (p.Cys196Phe)	Autoimmune disease, susceptibility to, 6 [RCV000001416]\|SIAE-related disorder [RCV003904793]\|not provided [RCV001300743]\|not specified [RCV005237345]	risk factor\|uncertain significance	11	124649754	124649755	Human	2	name , trait , alternate_id
152098950	CV1650433	single nucleotide variant	NM_170601.5(SIAE):c.857C>T (p.Thr286Met)	SIAE-related disorder [RCV003978820]\|not provided [RCV002115072]	benign	11	124647474	124647474	Human	1	name , trait , alternate_id
155706263	CV1772647	single nucleotide variant	NM_170601.5(SIAE):c.642C>G (p.Ile214Met)	not provided [RCV002300302]	uncertain significance	11	124649699	124649699	Human		name
155984041	CV1897070	single nucleotide variant	NM_170601.5(SIAE):c.917G>A (p.Arg306His)	not provided [RCV003097520]\|not specified [RCV004073328]	likely benign\|uncertain significance	11	124647414	124647414	Human		name
156145764	CV1932068	single nucleotide variant	NM_170601.5(SIAE):c.902G>A (p.Arg301His)	not provided [RCV002607723]\|not specified [RCV004070652]	uncertain significance	11	124647429	124647429	Human		name
156437216	CV1937045	single nucleotide variant	NM_170601.5(SIAE):c.647C>T (p.Ser216Phe)	not provided [RCV003106747]\|not specified [RCV004244527]	uncertain significance	11	124649694	124649694	Human		name
156177344	CV1978627	single nucleotide variant	NM_170601.5(SIAE):c.665C>T (p.Pro222Leu)	not provided [RCV002594958]	uncertain significance	11	124649676	124649676	Human		name
155916132	CV1980871	single nucleotide variant	NM_170601.5(SIAE):c.940C>T (p.Arg314Cys)	not provided [RCV002614322]	uncertain significance	11	124647391	124647391	Human		name
156390269	CV1996185	single nucleotide variant	NM_170601.5(SIAE):c.733T>C (p.Tyr245His)	not provided [RCV002654308]	uncertain significance	11	124648165	124648165	Human		name
156373526	CV2003718	single nucleotide variant	NM_170601.5(SIAE):c.346C>A (p.Leu116Met)	not provided [RCV002653098]	uncertain significance	11	124660687	124660687	Human		name
156276481	CV2004971	single nucleotide variant	NM_170601.5(SIAE):c.763T>G (p.Ser255Ala)	not provided [RCV002646701]	uncertain significance	11	124648135	124648135	Human		name
156217660	CV2015333	single nucleotide variant	NM_170601.5(SIAE):c.853A>T (p.Asn285Tyr)	not provided [RCV002700879]	uncertain significance	11	124647478	124647478	Human		name
156352892	CV2015535	single nucleotide variant	NM_170601.5(SIAE):c.624G>C (p.Gln208His)	not provided [RCV002720316]	uncertain significance	11	124649717	124649717	Human		name
156214828	CV2028603	single nucleotide variant	NM_170601.5(SIAE):c.927G>C (p.Gln309His)	not provided [RCV002711908]	uncertain significance	11	124647404	124647404	Human		name
156197219	CV2066652	single nucleotide variant	NM_170601.5(SIAE):c.638T>C (p.Leu213Pro)	not provided [RCV002828811]	uncertain significance	11	124649703	124649703	Human		name
156356255	CV2073141	single nucleotide variant	NM_170601.5(SIAE):c.478A>G (p.Ile160Val)	not provided [RCV002812149]	uncertain significance	11	124654721	124654721	Human		name
155965796	CV2080744	single nucleotide variant	NM_170601.5(SIAE):c.301C>T (p.Gln101Ter)	not provided [RCV002863076]	uncertain significance	11	124660732	124660732	Human		name
156328990	CV2116307	single nucleotide variant	NM_170601.5(SIAE):c.926A>C (p.Gln309Pro)	not provided [RCV002938256]	uncertain significance	11	124647405	124647405	Human		name
155947786	CV2127253	single nucleotide variant	NM_170601.5(SIAE):c.386T>C (p.Met129Thr)	not provided [RCV002971684]	uncertain significance	11	124660647	124660647	Human		name
155946701	CV2130284	single nucleotide variant	NM_170601.5(SIAE):c.388C>T (p.Gln130Ter)	not provided [RCV002971622]	uncertain significance	11	124660645	124660645	Human		name
156364434	CV2167034	single nucleotide variant	NM_170601.5(SIAE):c.629C>T (p.Pro210Leu)	not provided [RCV003031786]	uncertain significance	11	124649712	124649712	Human		name
156078150	CV2170949	single nucleotide variant	NM_170601.5(SIAE):c.731C>T (p.Pro244Leu)	not provided [RCV003020258]	uncertain significance	11	124648167	124648167	Human		name
156290242	CV2299475	single nucleotide variant	NM_170601.5(SIAE):c.952T>G (p.Phe318Val)	not specified [RCV004154550]	uncertain significance	11	124647379	124647379	Human		name
155930094	CV2389306	single nucleotide variant	NM_170601.5(SIAE):c.866A>T (p.Tyr289Phe)	not specified [RCV004235618]	uncertain significance	11	124647465	124647465	Human		name
155930103	CV2389307	single nucleotide variant	NM_170601.5(SIAE):c.868A>T (p.Asn290Tyr)	not specified [RCV004235619]	uncertain significance	11	124647463	124647463	Human		name
155930109	CV2389309	single nucleotide variant	NM_170601.5(SIAE):c.872G>A (p.Cys291Tyr)	not specified [RCV004235621]	uncertain significance	11	124647459	124647459	Human		name
401743917	CV2684812	single nucleotide variant	NM_170601.5(SIAE):c.308T>C (p.Leu103Ser)	not provided [RCV003720820]\|not specified [RCV004293885]	uncertain significance	11	124660725	124660725	Human		name
405176350	CV2864701	single nucleotide variant	NM_170601.5(SIAE):c.740C>T (p.Ser247Phe)	not provided [RCV003542793]	uncertain significance	11	124648158	124648158	Human		name
402485911	CV2865232	single nucleotide variant	NM_170601.5(SIAE):c.985A>C (p.Lys329Gln)	not provided [RCV003544468]	uncertain significance	11	124639849	124639849	Human		name
405084435	CV2865793	single nucleotide variant	NM_170601.5(SIAE):c.611A>T (p.Tyr204Phe)	not provided [RCV003549466]	uncertain significance	11	124649730	124649730	Human		name
405022149	CV2877490	single nucleotide variant	NM_170601.5(SIAE):c.583G>A (p.Val195Met)	not provided [RCV003577696]	uncertain significance	11	124649758	124649758	Human		name
405005626	CV2929353	single nucleotide variant	NM_170601.5(SIAE):c.884C>T (p.Ala295Val)	not provided [RCV003576249]	uncertain significance	11	124647447	124647447	Human		name
405074940	CV2941295	single nucleotide variant	NM_170601.5(SIAE):c.380G>A (p.Ser127Asn)	not provided [RCV003664155]	uncertain significance	11	124660653	124660653	Human		name
405131850	CV2953725	single nucleotide variant	NM_170601.5(SIAE):c.965A>G (p.Gln322Arg)	not provided [RCV003672393]	uncertain significance	11	124647366	124647366	Human		name
405173501	CV2955421	single nucleotide variant	NM_170601.5(SIAE):c.950C>A (p.Pro317Gln)	not provided [RCV003675627]	uncertain significance	11	124647381	124647381	Human		name
405121471	CV2957727	single nucleotide variant	NM_170601.5(SIAE):c.467C>T (p.Ser156Phe)	not provided [RCV003667410]	uncertain significance	11	124654732	124654732	Human		name
404987102	CV3001657	single nucleotide variant	NM_170601.5(SIAE):c.683C>T (p.Ser228Phe)	not provided [RCV003691936]	uncertain significance	11	124649658	124649658	Human		name
402494598	CV3004938	deletion	NM_170601.5(SIAE):c.1301del (p.Lys434fs)	not provided [RCV003687879]	uncertain significance	11	124638561	124638561	Human		name
405030903	CV3012764	single nucleotide variant	NM_170601.5(SIAE):c.514G>C (p.Val172Leu)	not provided [RCV003695560]	uncertain significance	11	124654685	124654685	Human		name
405242050	CV3014663	single nucleotide variant	NM_170601.5(SIAE):c.894A>C (p.Glu298Asp)	not provided [RCV003719404]	uncertain significance	11	124647437	124647437	Human		name
405125786	CV3021214	single nucleotide variant	NM_170601.5(SIAE):c.742G>A (p.Val248Ile)	not provided [RCV003701138]	uncertain significance	11	124648156	124648156	Human		name
405182998	CV3024435	single nucleotide variant	NM_170601.5(SIAE):c.709G>A (p.Val237Ile)	not provided [RCV003705644]	uncertain significance	11	124649632	124649632	Human		name
405223535	CV3035783	single nucleotide variant	NM_170601.5(SIAE):c.857C>A (p.Thr286Lys)	not provided [RCV003710323]	uncertain significance	11	124647474	124647474	Human		name
405220502	CV3059912	single nucleotide variant	NM_170601.5(SIAE):c.440C>T (p.Ala147Val)	not provided [RCV003733234]	uncertain significance	11	124654759	124654759	Human		name
405205758	CV3126670	single nucleotide variant	NM_170601.5(SIAE):c.833G>A (p.Gly278Glu)	not provided [RCV003822604]	uncertain significance	11	124647498	124647498	Human		name
405072674	CV3140407	single nucleotide variant	NM_170601.5(SIAE):c.343G>A (p.Val115Ile)	not provided [RCV003833562]	uncertain significance	11	124660690	124660690	Human		name
405223675	CV3158455	single nucleotide variant	NM_170601.5(SIAE):c.826T>C (p.Tyr276His)	not provided [RCV003863951]	uncertain significance	11	124648072	124648072	Human		name
405130586	CV3163637	single nucleotide variant	NM_170601.5(SIAE):c.818T>C (p.Val273Ala)	not provided [RCV003854625]	uncertain significance	11	124648080	124648080	Human		name
405132113	CV3163775	single nucleotide variant	NM_170601.5(SIAE):c.860A>G (p.Asp287Gly)	not provided [RCV003854763]	uncertain significance	11	124647471	124647471	Human		name
405253471	CV3174473	single nucleotide variant	NM_170601.5(SIAE):c.940C>G (p.Arg314Gly)	not provided [RCV003871102]	uncertain significance	11	124647391	124647391	Human		name
404987803	CV3179768	single nucleotide variant	NM_170601.5(SIAE):c.781A>G (p.Met261Val)	not provided [RCV003881245]	uncertain significance	11	124648117	124648117	Human		name
597720220	CV3599028	single nucleotide variant	NM_170601.5(SIAE):c.338A>C (p.His113Pro)	not specified [RCV004861956]	uncertain significance	11	124660695	124660695	Human		name
597889622	CV3739376	deletion	NM_170601.5(SIAE):c.1480del (p.Leu494fs)	not provided [RCV005070923]	uncertain significance	11	124637043	124637043	Human		name
597914581	CV3740650	single nucleotide variant	NM_170601.5(SIAE):c.628C>A (p.Pro210Thr)	not provided [RCV005073987]	uncertain significance	11	124649713	124649713	Human		name
597961493	CV3753259	single nucleotide variant	NM_170601.5(SIAE):c.446A>G (p.Tyr149Cys)	not provided [RCV005081759]	uncertain significance	11	124654753	124654753	Human		name
597919302	CV3781088	single nucleotide variant	NM_170601.5(SIAE):c.556C>A (p.His186Asn)	not provided [RCV005129970]	uncertain significance	11	124649785	124649785	Human		name
597903101	CV3784394	duplication	NM_170601.5(SIAE):c.1480dup (p.Leu494fs)	not provided [RCV005127446]	uncertain significance	11	124637042	124637043	Human		name
597969835	CV3791631	single nucleotide variant	NM_170601.5(SIAE):c.879C>A (p.Phe293Leu)	not provided [RCV005141448]	uncertain significance	11	124647452	124647452	Human		name
597974812	CV3798585	duplication	NM_170601.5(SIAE):c.1105dup (p.Arg369fs)	not provided [RCV005144173]	uncertain significance	11	124639728	124639729	Human		name
597869625	CV3803506	single nucleotide variant	NM_170601.5(SIAE):c.620T>A (p.Leu207Gln)	not provided [RCV005148104]	uncertain significance	11	124649721	124649721	Human		name
597890282	CV3804949	single nucleotide variant	NM_170601.5(SIAE):c.751C>T (p.Pro251Ser)	not provided [RCV005151211]	uncertain significance	11	124648147	124648147	Human		name
597918559	CV3811313	deletion	NM_170601.5(SIAE):c.1391del (p.Leu464fs)	not provided [RCV005155348]	uncertain significance	11	124637132	124637132	Human		name
597842289	CV3822056	single nucleotide variant	NM_170601.5(SIAE):c.686G>A (p.Gly229Glu)	not provided [RCV005172370]	uncertain significance	11	124649655	124649655	Human		name
597974900	CV3831903	single nucleotide variant	NM_170601.5(SIAE):c.804G>A (p.Met268Ile)	not provided [RCV005168842]	uncertain significance	11	124648094	124648094	Human		name
597888930	CV3859580	single nucleotide variant	NM_170601.5(SIAE):c.391A>T (p.Met131Leu)	not provided [RCV005200236]	uncertain significance	11	124660642	124660642	Human		name
598256680	CV3914391	single nucleotide variant	NM_170601.5(SIAE):c.727A>G (p.Ile243Val)	not specified [RCV005279060]	likely benign	11	124648171	124648171	Human		name
598256687	CV3914392	single nucleotide variant	NM_170601.5(SIAE):c.547A>G (p.Asn183Asp)	not specified [RCV005279061]	uncertain significance	11	124649794	124649794	Human		name
598256693	CV3914393	single nucleotide variant	NM_170601.5(SIAE):c.992G>T (p.Ser331Ile)	not specified [RCV005279062]	uncertain significance	11	124639842	124639842	Human		name
598256699	CV3914394	single nucleotide variant	NM_170601.5(SIAE):c.363G>C (p.Trp121Cys)	not specified [RCV005279063]	uncertain significance	11	124660670	124660670	Human		name
12900372	CV408296	single nucleotide variant	NM_170601.5(SIAE):c.634G>A (p.Gly212Arg)	not provided [RCV000482269]	conflicting interpretations of pathogenicity\|uncertain significance	11	124649707	124649707	Human		name
126753878	CV1009569	single nucleotide variant	NM_170601.5(SIAE):c.1435C>T (p.Arg479Cys)	not provided [RCV001316581]	uncertain significance	11	124637088	124637088	Human		name
151862776	CV1353536	single nucleotide variant	NM_170601.5(SIAE):c.1351T>C (p.Trp451Arg)	not provided [RCV001924216]\|not specified [RCV004044258]	uncertain significance	11	124637172	124637172	Human		name
151802904	CV1354425	single nucleotide variant	NM_170601.5(SIAE):c.1472A>G (p.Gln491Arg)	not provided [RCV001867288]	uncertain significance	11	124637051	124637051	Human		name
151736405	CV1354846	single nucleotide variant	NM_170601.5(SIAE):c.1026T>A (p.His342Gln)	not provided [RCV001892804]	uncertain significance	11	124639808	124639808	Human		name
151856923	CV1363705	single nucleotide variant	NM_170601.5(SIAE):c.1375G>T (p.Val459Phe)	not provided [RCV001904801]	uncertain significance	11	124637148	124637148	Human		name
151874930	CV1369549	single nucleotide variant	NM_170601.5(SIAE):c.1265A>G (p.Asn422Ser)	not provided [RCV002036138]	uncertain significance	11	124638597	124638597	Human		name
151882254	CV1371200	single nucleotide variant	NM_170601.5(SIAE):c.1177C>T (p.Arg393Cys)	not provided [RCV001886690]	uncertain significance	11	124638685	124638685	Human		name
151843947	CV1375822	single nucleotide variant	NM_170601.5(SIAE):c.1544C>T (p.Pro515Leu)	not provided [RCV001995094]\|not specified [RCV004044697]	uncertain significance	11	124636979	124636979	Human		name
151797750	CV1376529	single nucleotide variant	NM_170601.5(SIAE):c.1436G>A (p.Arg479His)	not provided [RCV001932020]	uncertain significance	11	124637087	124637087	Human		name
151835958	CV1378775	single nucleotide variant	NM_170601.5(SIAE):c.1274A>G (p.Tyr425Cys)	not provided [RCV001880787]	uncertain significance	11	124638588	124638588	Human		name
151711633	CV1395150	single nucleotide variant	NM_170601.5(SIAE):c.1108G>C (p.Asp370His)	not provided [RCV001964419]	uncertain significance	11	124639726	124639726	Human		name
151835889	CV1397957	single nucleotide variant	NM_170601.5(SIAE):c.1342C>T (p.Arg448Ter)	not provided [RCV001977134]	uncertain significance	11	124637181	124637181	Human		name
151865400	CV1406081	single nucleotide variant	NM_170601.5(SIAE):c.1535A>T (p.Asp512Val)	not provided [RCV001959763]	uncertain significance	11	124636988	124636988	Human		name
151779661	CV1408324	single nucleotide variant	NM_170601.5(SIAE):c.1042G>C (p.Gly348Arg)	not provided [RCV001915761]	uncertain significance	11	124639792	124639792	Human		name
151857112	CV1410447	single nucleotide variant	NM_170601.5(SIAE):c.1046A>G (p.Tyr349Cys)	not provided [RCV001996671]	uncertain significance	11	124639788	124639788	Human		name
151840329	CV1415366	single nucleotide variant	NM_170601.5(SIAE):c.1283A>T (p.Gln428Leu)	not provided [RCV001921457]	uncertain significance	11	124638579	124638579	Human		name
151824682	CV1421142	single nucleotide variant	NM_170601.5(SIAE):c.1084G>A (p.Val362Ile)	not provided [RCV001869953]\|not specified [RCV004038956]	uncertain significance	11	124639750	124639750	Human		name
151888029	CV1434366	single nucleotide variant	NM_170601.5(SIAE):c.1405G>A (p.Asp469Asn)	not provided [RCV001887879]	uncertain significance	11	124637118	124637118	Human		name
151779642	CV1446166	single nucleotide variant	NM_170601.5(SIAE):c.1019G>A (p.Arg340His)	not provided [RCV001989012]	uncertain significance	11	124639815	124639815	Human		name
151875599	CV1459916	single nucleotide variant	NM_170601.5(SIAE):c.1112C>A (p.Ser371Ter)	not provided [RCV002036217]	uncertain significance	11	124639722	124639722	Human		name
151870797	CV1466590	single nucleotide variant	NM_170601.5(SIAE):c.1200G>T (p.Lys400Asn)	not provided [RCV001906448]	uncertain significance	11	124638662	124638662	Human		name
151888066	CV1472153	single nucleotide variant	NM_170601.5(SIAE):c.1385A>G (p.Gln462Arg)	not provided [RCV002001009]	uncertain significance	11	124637138	124637138	Human		name
151764092	CV1478359	single nucleotide variant	NM_170601.5(SIAE):c.1279C>T (p.Gln427Ter)	not provided [RCV002008202]	uncertain significance	11	124638583	124638583	Human		name
151737215	CV1489796	single nucleotide variant	NM_170601.5(SIAE):c.1375G>A (p.Val459Ile)	not provided [RCV001892895]	uncertain significance	11	124637148	124637148	Human		name
151750115	CV1512097	single nucleotide variant	NM_170601.5(SIAE):c.1070A>G (p.Asn357Ser)	not provided [RCV001986201]	uncertain significance	11	124639764	124639764	Human		name
151797197	CV1512810	single nucleotide variant	NM_170601.5(SIAE):c.1340A>G (p.His447Arg)	not provided [RCV001866794]	uncertain significance	11	124637183	124637183	Human		name
151889148	CV1516148	single nucleotide variant	NM_170601.5(SIAE):c.1180G>A (p.Ala394Thr)	not provided [RCV002038543]	uncertain significance	11	124638682	124638682	Human		name
152172064	CV1575711	single nucleotide variant	NM_170601.5(SIAE):c.1416T>A (p.His472Gln)	SIAE-related disorder [RCV003978891]\|not provided [RCV002183715]	benign	11	124637107	124637107	Human	1	name , trait , alternate_id
152157278	CV1615889	single nucleotide variant	NM_170601.5(SIAE):c.1256G>A (p.Gly419Glu)	not provided [RCV002159002]	benign	11	124638606	124638606	Human		name
8556137	CV16392	single nucleotide variant	NM_170601.5(SIAE):c.1211T>C (p.Phe404Ser)	Autoimmune disease, susceptibility to, 6 [RCV000001418]\|not provided [RCV001851543]\|not specified [RCV003155009]	risk factor\|uncertain significance	11	124638651	124638651	Human	1	name
152145612	CV1642144	single nucleotide variant	NM_170601.5(SIAE):c.1160G>A (p.Arg387Gln)	not provided [RCV002101417]	likely benign	11	124638702	124638702	Human		name
155705423	CV1771371	single nucleotide variant	NM_170601.5(SIAE):c.1379C>T (p.Ser460Phe)	not provided [RCV002295845]	uncertain significance	11	124637144	124637144	Human		name
155701615	CV1776179	single nucleotide variant	NM_170601.5(SIAE):c.1343G>C (p.Arg448Pro)	not provided [RCV002300000]	uncertain significance	11	124637180	124637180	Human		name
156049522	CV1868937	single nucleotide variant	NM_170601.5(SIAE):c.1301A>C (p.Lys434Thr)	not provided [RCV003052948]	uncertain significance	11	124638561	124638561	Human		name
156363572	CV1931940	single nucleotide variant	NM_170601.5(SIAE):c.1240C>A (p.Leu414Ile)	not provided [RCV002632848]	uncertain significance	11	124638622	124638622	Human		name
156187832	CV1933926	single nucleotide variant	NM_170601.5(SIAE):c.1367T>G (p.Met456Arg)	not provided [RCV002625258]	uncertain significance	11	124637156	124637156	Human		name
156440270	CV1946632	single nucleotide variant	NM_170601.5(SIAE):c.1018C>T (p.Arg340Cys)	not provided [RCV003110301]	uncertain significance	11	124639816	124639816	Human		name
156389493	CV1947349	single nucleotide variant	NM_170601.5(SIAE):c.1373C>T (p.Thr458Ile)	not provided [RCV003108172]\|not specified [RCV004099566]	uncertain significance	11	124637150	124637150	Human		name
156446899	CV1948584	single nucleotide variant	NM_170601.5(SIAE):c.1345T>A (p.Cys449Ser)	not provided [RCV003118418]\|not specified [RCV004676173]	uncertain significance	11	124637178	124637178	Human		name
156384473	CV1961114	single nucleotide variant	NM_170601.5(SIAE):c.1112C>T (p.Ser371Leu)	not provided [RCV002583388]	uncertain significance	11	124639722	124639722	Human		name
156415963	CV1966360	single nucleotide variant	NM_170601.5(SIAE):c.1141A>C (p.Lys381Gln)	not provided [RCV002589454]	uncertain significance	11	124638721	124638721	Human		name
156379437	CV1968356	single nucleotide variant	NM_170601.5(SIAE):c.1414C>T (p.His472Tyr)	not provided [RCV002603858]	uncertain significance	11	124637109	124637109	Human		name
156414973	CV1983113	single nucleotide variant	NM_170601.5(SIAE):c.1464A>C (p.Glu488Asp)	not provided [RCV002609452]	uncertain significance	11	124637059	124637059	Human		name
156393126	CV1983355	single nucleotide variant	NM_170601.5(SIAE):c.1042G>A (p.Gly348Ser)	not provided [RCV002604859]	uncertain significance	11	124639792	124639792	Human		name
156087574	CV1989559	single nucleotide variant	NM_170601.5(SIAE):c.1492A>C (p.Ser498Arg)	not provided [RCV002639107]	uncertain significance	11	124637031	124637031	Human		name
156242735	CV1992634	single nucleotide variant	NM_170601.5(SIAE):c.1291G>A (p.Val431Met)	not provided [RCV002627191]	uncertain significance	11	124638571	124638571	Human		name
156391621	CV1995711	single nucleotide variant	NM_170601.5(SIAE):c.1246G>A (p.Ala416Thr)	not provided [RCV002680819]	uncertain significance	11	124638616	124638616	Human		name
156191683	CV2007813	single nucleotide variant	NM_170601.5(SIAE):c.1124G>A (p.Ser375Asn)	not provided [RCV002699981]	uncertain significance	11	124639710	124639710	Human		name
156147849	CV2026683	single nucleotide variant	NM_170601.5(SIAE):c.1355T>C (p.Leu452Pro)	not provided [RCV002741128]	uncertain significance	11	124637168	124637168	Human		name
156034734	CV2029951	single nucleotide variant	NM_170601.5(SIAE):c.1324T>G (p.Ser442Ala)	not provided [RCV002735949]	uncertain significance	11	124637199	124637199	Human		name
156204568	CV2034891	single nucleotide variant	NM_170601.5(SIAE):c.1423G>A (p.Val475Met)	not provided [RCV002766368]	uncertain significance	11	124637100	124637100	Human		name
156232692	CV2118256	single nucleotide variant	NM_170601.5(SIAE):c.1079T>A (p.Met360Lys)	not provided [RCV002958570]\|not specified [RCV004068063]	uncertain significance	11	124639755	124639755	Human		name
155963377	CV2134612	single nucleotide variant	NM_170601.5(SIAE):c.1455G>A (p.Trp485Ter)	not provided [RCV002972494]	uncertain significance	11	124637068	124637068	Human		name
155945837	CV2139433	single nucleotide variant	NM_170601.5(SIAE):c.1016T>C (p.Ile339Thr)	not provided [RCV002994336]	uncertain significance	11	124639818	124639818	Human		name
156247373	CV2168713	single nucleotide variant	NM_170601.5(SIAE):c.1178G>T (p.Arg393Leu)	not provided [RCV003026221]	uncertain significance	11	124638684	124638684	Human		name
156252087	CV2232371	single nucleotide variant	NM_170601.5(SIAE):c.1195G>A (p.Glu399Lys)	not provided [RCV003777698]\|not specified [RCV004099003]	uncertain significance	11	124638667	124638667	Human		name
401732987	CV2685393	single nucleotide variant	NM_170601.5(SIAE):c.1014G>T (p.Gln338His)	not specified [RCV004294430]	uncertain significance	11	124639820	124639820	Human		name
402490778	CV2867090	single nucleotide variant	NM_170601.5(SIAE):c.1520T>G (p.Ile507Ser)	not provided [RCV003544859]	uncertain significance	11	124637003	124637003	Human		name
402499271	CV2871984	single nucleotide variant	NM_170601.5(SIAE):c.1321A>C (p.Ile441Leu)	not provided [RCV003545733]	uncertain significance	11	124637202	124637202	Human		name
405154901	CV2890498	single nucleotide variant	NM_170601.5(SIAE):c.1322T>G (p.Ile441Ser)	not provided [RCV003561979]	uncertain significance	11	124637201	124637201	Human		name
405109858	CV2898793	single nucleotide variant	NM_170601.5(SIAE):c.1178G>A (p.Arg393His)	not provided [RCV003557688]	uncertain significance	11	124638684	124638684	Human		name
405128474	CV2957279	single nucleotide variant	NM_170601.5(SIAE):c.1430C>T (p.Ala477Val)	not provided [RCV003672190]	uncertain significance	11	124637093	124637093	Human		name
405135709	CV2958087	single nucleotide variant	NM_170601.5(SIAE):c.1078A>G (p.Met360Val)	not provided [RCV003672798]	uncertain significance	11	124639756	124639756	Human		name
405222731	CV2976412	single nucleotide variant	NM_170601.5(SIAE):c.1110C>G (p.Asp370Glu)	not provided [RCV003680940]	uncertain significance	11	124639724	124639724	Human		name
404985613	CV2979656	single nucleotide variant	NM_170601.5(SIAE):c.1198A>G (p.Lys400Glu)	not provided [RCV003691731]	uncertain significance	11	124638664	124638664	Human		name
402519919	CV3002456	single nucleotide variant	NM_170601.5(SIAE):c.1193G>T (p.Gly398Val)	not provided [RCV003690214]	uncertain significance	11	124638669	124638669	Human		name
402486126	CV3033920	single nucleotide variant	NM_170601.5(SIAE):c.1325C>T (p.Ser442Phe)	not provided [RCV003713312]	uncertain significance	11	124637198	124637198	Human		name
405225420	CV3058451	single nucleotide variant	NM_170601.5(SIAE):c.1022G>A (p.Trp341Ter)	not provided [RCV003733957]	uncertain significance	11	124639812	124639812	Human		name
405210869	CV3059062	single nucleotide variant	NM_170601.5(SIAE):c.1135C>T (p.Arg379Ter)	not provided [RCV003731988]	uncertain significance	11	124638727	124638727	Human		name
405102381	CV3119415	single nucleotide variant	NM_170601.5(SIAE):c.1451C>T (p.Thr484Met)	not provided [RCV003811676]	uncertain significance	11	124637072	124637072	Human		name
405200841	CV3143488	single nucleotide variant	NM_170601.5(SIAE):c.1247C>T (p.Ala416Val)	not provided [RCV003844474]	uncertain significance	11	124638615	124638615	Human		name
405242886	CV3164656	single nucleotide variant	NM_170601.5(SIAE):c.1107A>C (p.Arg369Ser)	not provided [RCV003867737]	uncertain significance	11	124639727	124639727	Human		name
405080806	CV3166802	single nucleotide variant	NM_170601.5(SIAE):c.1348A>T (p.Lys450Ter)	not provided [RCV003851576]	uncertain significance	11	124637175	124637175	Human		name
402498408	CV3170320	single nucleotide variant	NM_170601.5(SIAE):c.1153G>A (p.Ala385Thr)	not provided [RCV003877692]	uncertain significance	11	124638709	124638709	Human		name
407501484	CV3480655	single nucleotide variant	NM_170601.5(SIAE):c.1528A>G (p.Ile510Val)	not specified [RCV004669777]	uncertain significance	11	124636995	124636995	Human		name
408394358	CV3521951	single nucleotide variant	NM_170601.5(SIAE):c.1318G>A (p.Glu440Lys)	Autoimmune disease, susceptibility to, 6 [RCV004764750]	uncertain significance	11	124638544	124638544	Human	1	name
597720211	CV3599027	single nucleotide variant	NM_170601.5(SIAE):c.1343G>A (p.Arg448Gln)	not specified [RCV004861955]	likely benign	11	124637180	124637180	Human		name
597720239	CV3599030	single nucleotide variant	NM_170601.5(SIAE):c.1078A>T (p.Met360Leu)	not specified [RCV004861958]	uncertain significance	11	124639756	124639756	Human		name
597900855	CV3741124	single nucleotide variant	NM_170601.5(SIAE):c.1304A>G (p.Asp435Gly)	not provided [RCV005072287]	uncertain significance	11	124638558	124638558	Human		name
597863914	CV3742141	single nucleotide variant	NM_170601.5(SIAE):c.1148C>T (p.Thr383Ile)	not provided [RCV005067757]	uncertain significance	11	124638714	124638714	Human		name
597853948	CV3747558	single nucleotide variant	NM_170601.5(SIAE):c.1159C>T (p.Arg387Trp)	not provided [RCV005066569]	uncertain significance	11	124638703	124638703	Human		name
597832266	CV3751321	single nucleotide variant	NM_170601.5(SIAE):c.1028A>G (p.Gln343Arg)	not provided [RCV005084867]	uncertain significance	11	124639806	124639806	Human		name
597942606	CV3757834	single nucleotide variant	NM_170601.5(SIAE):c.1000G>A (p.Asp334Asn)	not provided [RCV005077833]	uncertain significance	11	124639834	124639834	Human		name
597952152	CV3765569	single nucleotide variant	NM_170601.5(SIAE):c.1109A>T (p.Asp370Val)	not provided [RCV005121213]	uncertain significance	11	124639725	124639725	Human		name
597938839	CV3788365	single nucleotide variant	NM_170601.5(SIAE):c.1429G>T (p.Ala477Ser)	not provided [RCV005133040]	uncertain significance	11	124637094	124637094	Human		name
597972417	CV3790267	single nucleotide variant	NM_170601.5(SIAE):c.1126A>G (p.Ile376Val)	not provided [RCV005142690]	uncertain significance	11	124638736	124638736	Human		name
597972990	CV3790865	single nucleotide variant	NM_170601.5(SIAE):c.1138G>T (p.Asp380Tyr)	not provided [RCV005143080]	uncertain significance	11	124638724	124638724	Human		name
597903006	CV3800260	single nucleotide variant	NM_170601.5(SIAE):c.1187C>T (p.Ala396Val)	not provided [RCV005127432]	uncertain significance	11	124638675	124638675	Human		name
597896109	CV3810495	single nucleotide variant	NM_170601.5(SIAE):c.1316T>C (p.Phe439Ser)	not provided [RCV005152020]	uncertain significance	11	124638546	124638546	Human		name
597951882	CV3815455	single nucleotide variant	NM_170601.5(SIAE):c.1446G>A (p.Trp482Ter)	not provided [RCV005161405]	uncertain significance	11	124637077	124637077	Human		name
597847097	CV3823944	single nucleotide variant	NM_170601.5(SIAE):c.1436G>T (p.Arg479Leu)	not provided [RCV005173183]	uncertain significance	11	124637087	124637087	Human		name
597860524	CV3826025	single nucleotide variant	NM_170601.5(SIAE):c.1109A>G (p.Asp370Gly)	not provided [RCV005174923]	uncertain significance	11	124639725	124639725	Human		name
597832891	CV3831382	single nucleotide variant	NM_170601.5(SIAE):c.1315T>A (p.Phe439Ile)	not provided [RCV005170585]	uncertain significance	11	124638547	124638547	Human		name
597920640	CV3852047	single nucleotide variant	NM_170601.5(SIAE):c.1082C>G (p.Ala361Gly)	not provided [RCV005205027]	uncertain significance	11	124639752	124639752	Human		name
597907803	CV3853625	single nucleotide variant	NM_170601.5(SIAE):c.1102G>A (p.Asp368Asn)	not provided [RCV005203105]	uncertain significance	11	124639732	124639732	Human		name
597881843	CV3857501	single nucleotide variant	NM_170601.5(SIAE):c.1373C>G (p.Thr458Ser)	not provided [RCV005199118]	uncertain significance	11	124637150	124637150	Human		name
597919031	CV3861639	single nucleotide variant	NM_170601.5(SIAE):c.1225C>T (p.Pro409Ser)	not provided [RCV005204795]	uncertain significance	11	124638637	124638637	Human		name
15199389	CV701643	single nucleotide variant	NM_170601.5(SIAE):c.1400C>T (p.Ala467Val)	not provided [RCV000957025]	benign	11	124637123	124637123	Human		name
15144869	CV752506	single nucleotide variant	NM_170601.5(SIAE):c.1135C>G (p.Arg379Gly)	not provided [RCV000922443]	likely benign	11	124638727	124638727	Human		name
156132497	CV2169238	deletion	NM_170601.5(SIAE):c.197_200del (p.Glu66fs)	not provided [RCV003022230]	uncertain significance	11	124669389	124669392	Human		name
151834743	CV1419955	deletion	NM_170601.5(SIAE):c.346_350del (p.Leu116fs)	not provided [RCV001977013]	uncertain significance	11	124660683	124660687	Human		name
156404328	CV1986312	microsatellite	NM_170601.5(SIAE):c.986AGA[1] (p.Lys330del)	not provided [RCV002658026]	uncertain significance	11	124639843	124639845	Human		name
405081275	CV2864788	duplication	NM_170601.5(SIAE):c.928_950dup (p.Phe318fs)	not provided [RCV003549251]	uncertain significance	11	124647380	124647381	Human		name
151886925	CV1495946	microsatellite	NM_170601.5(SIAE):c.1197GAA[1] (p.Lys400del)	not provided [RCV001887663]	uncertain significance	11	124638660	124638662	Human		name
151847388	CV1513288	microsatellite	NM_170601.5(SIAE):c.1305CAA[1] (p.Asn436del)	not provided [RCV001922307]	uncertain significance	11	124638552	124638554	Human		name
151758569	CV1340556	insertion	NM_170601.5(SIAE):c.698_699insCA (p.Lys233fs)	not provided [RCV001913715]	uncertain significance	11	124649642	124649643	Human		name
151734066	CV1392956	deletion	NM_170601.5(SIAE):c.1144_1145del (p.Gln382fs)	not provided [RCV001967405]	uncertain significance	11	124638717	124638718	Human		name
402474931	CV3182838	deletion	NM_170601.5(SIAE):c.1056_1069del (p.Asn352fs)	not provided [RCV003875082]	uncertain significance	11	124639765	124639778	Human		name
597941731	CV3785860	deletion	NM_170601.5(SIAE):c.1464_1474del (p.Tyr489fs)	not provided [RCV005133753]	uncertain significance	11	124637049	124637059	Human		name
597866395	CV3834455	deletion	NM_170601.5(SIAE):c.1266_1284del (p.Asn422fs)	not provided [RCV005175822]	uncertain significance	11	124638578	124638596	Human		name
151813021	CV1373115	deletion	NM_170601.5(SIAE):c.1512_1514del (p.Pro505del)	not provided [RCV001900138]	uncertain significance	11	124637009	124637011	Human		name
151779353	CV1473736	duplication	NM_170601.5(SIAE):c.18_35dup (p.Val7_Leu12dup)	not provided [RCV001864823]	uncertain significance	11	124673673	124673674	Human		name
405252075	CV3177589	indel	NM_170601.5(SIAE):c.872_873delinsAT (p.Cys291Tyr)	not provided [RCV003870547]	uncertain significance	11	124647458	124647459	Human		name
597974844	CV3831876	indel	NM_170601.5(SIAE):c.541_542delinsAA (p.Ser181Lys)	not provided [RCV005168815]	uncertain significance	11	124654657	124654658	Human		name
402488838	CV2984361	deletion	NM_170601.5(SIAE):c.759_761del (p.Lys253_His254delinsAsn)	not provided [RCV003713574]	uncertain significance	11	124648137	124648139	Human		name
597889358	CV3739377	deletion	NM_170601.5(SIAE):c.1463_1474del (p.Glu488_Cys492delinsGly)	not provided [RCV005070924]	uncertain significance	11	124637049	124637060	Human		name
405252077	CV3177590	indel	NM_170601.5(SIAE):c.866_868delinsTAT (p.Tyr289_Asn290delinsLeuTyr)	not provided [RCV003870548]	uncertain significance	11	124647463	124647465	Human		name

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