Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.44941960_44942049del	CA2658868804	SIX3	c.-145_-56del (n.-145_-56del)	gnomAD v4
2	g.44941974_44942024del	CA2658868829	SIX3	c.-131_-81del (n.-131_-81del)	gnomAD v4
2	g.44941974_44942075del	CA2749734934	SIX3	c.-131_-30del (n.-131_-30del)
2	g.44941990_44942037del	CA2658868905	SIX3	c.-115_-68del (n.-115_-68del)	gnomAD v4
2	g.44942001_44942048del	CA2658868912	SIX3	c.-104_-57del (n.-104_-57del)	gnomAD v4
2	g.44942013_44942045del	CA2658868947	SIX3	c.-92_-60del (n.-92_-60del)	gnomAD v4
2	g.44942014_44942049del	CA2658868969	SIX3	c.-91_-56del (n.-91_-56del)	gnomAD v4
2	g.44942018_44942074del	CA2658868972	SIX3	c.-87_-31del (n.-87_-31del)	gnomAD v4
2	g.44942015_44942061del	CA2658868975	SIX3	c.-90_-44del (n.-90_-44del)	gnomAD v4
2	g.44942023_44942055del	CA2658868988	SIX3	c.-82_-50del (n.-82_-50del)	gnomAD v4
2	g.44942024G>A	CA2658868999	SIX3	c.-81G>A (n.-81G>A)	gnomAD v4
2	g.44942024G>C	CA2576956240	SIX3	c.-81G>C (n.-81G>C)
2	g.44942024G>T	CA2658869002	SIX3	c.-81G>T (n.-81G>T)	gnomAD v4
2	g.44942025G>A	CA2658869003	SIX3	c.-80G>A (n.-80G>A)	gnomAD v4
2	g.44942025G=	CA2494534796	SIX3	c.-80G= (n.-80G=)
2	g.44942025G>T	CA2494534795	SIX3	c.-80G>T (n.-80G>T)	dbSNP
2	g.44942026T>A	CA2597075079	SIX3	c.-79T>A (n.-79T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.44942026T>C	CA2658869006	SIX3	c.-79T>C (n.-79T>C)	gnomAD v4
2	g.44942031_44942048dup	CA2658869005	SIX3	c.-74_-57dup (n.-74_-57dup)	gnomAD v4
2	g.44942027C>A	CA2658869009	SIX3	c.-78C>A (n.-78C>A)	gnomAD v4
2	g.44942027C>G	CA2658869008	SIX3	c.-78C>G (n.-78C>G)	gnomAD v4
2	g.44942027C>T	CA2658869007	SIX3	c.-78C>T (n.-78C>T)	gnomAD v4
2	g.44942028C>T	CA2658869011	SIX3	c.-77C>T (n.-77C>T)	gnomAD v4
2	g.44942029T>C	CA2576956241	SIX3	c.-76T>C (n.-76T>C)
2	g.44942030C>A	CA2576956242	SIX3	c.-75C>A (n.-75C>A)
2	g.44942030C>T	CA2658869013	SIX3	c.-75C>T (n.-75C>T)	gnomAD v4
2	g.44942031A=	CA2494534797	SIX3	c.-74A= (n.-74A=)
2	g.44942031A>C	CA1030070939	SIX3	c.-74A>C (n.-74A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.44942031A>G	CA2494534798	SIX3	c.-74A>G (n.-74A>G)	dbSNP gnomAD v4
2	g.44942031A>T	CA2658869015	SIX3	c.-74A>T (n.-74A>T)	gnomAD v4
2	g.44942031_44942046delinsATCGCCCCTCTCCTCC	CA2494534799	SIX3	c.-74_-59delinsATCGCCCCTCTCCTCC (n.-74_-59delinsATCGCCCCTCTCCTCC)
2	g.44942032T>A	CA2658869016	SIX3	c.-73T>A (n.-73T>A)	gnomAD v4
2	g.44942032T>C	CA2537450099	SIX3	c.-73T>C (n.-73T>C)	gnomAD v4
2	g.44942032T>G	CA2658869017	SIX3	c.-73T>G (n.-73T>G)	gnomAD v4
2	g.44942034_44942048del	CA1030070941	SIX3	c.-71_-57del (n.-71_-57del)	dbSNP gnomAD v3 gnomAD v4
2	g.44942033C>A	CA2576956243	SIX3	c.-72C>A (n.-72C>A)	gnomAD v4
2	g.44942033C>G	CA2658869018	SIX3	c.-72C>G (n.-72C>G)	gnomAD v4
2	g.44942033C>T	CA2658869019	SIX3	c.-72C>T (n.-72C>T)	gnomAD v4
2	g.44942034G>A	CA1030070943	SIX3	c.-71G>A (n.-71G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.44942034G>C	CA2658869021	SIX3	c.-71G>C (n.-71G>C)	gnomAD v4
2	g.44942034G=	CA2494534800	SIX3	c.-71G= (n.-71G=)
2	g.44942035C>A	CA769176593	SIX3	c.-70C>A (n.-70C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.44942035C=	CA2494534801	SIX3	c.-70C= (n.-70C=)
2	g.44942035C>G	CA2658869022	SIX3	c.-70C>G (n.-70C>G)	gnomAD v4
2	g.44942036C=	CA2494534802	SIX3	c.-69C= (n.-69C=)
2	g.44942036C>T	CA2658869024	SIX3	c.-69C>T (n.-69C>T)	gnomAD v4
2	g.44942036_44942037insTCCCCTC	CA769176594	SIX3	c.-69_-68insTCCCCTC (n.-69_-68insTCCCCTC)	dbSNP
2	g.44942036_44942037insT	CA532706746	SIX3	c.-69_-68insT (n.-69_-68insT)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942037C>A	CA2658869025	SIX3	c.-68C>A (n.-68C>A)	gnomAD v4
2	g.44942037C=	CA2494534803	SIX3	c.-68C= (n.-68C=)
2	g.44942037C>T	CA47011028	SIX3	c.-68C>T (n.-68C>T)	dbSNP gnomAD v4
2	g.44942038C>A	CA2576956245	SIX3	c.-67C>A (n.-67C>A)	gnomAD v4
2	g.44942038_44942039insCCTCTC	CA532706747	SIX3	c.-67_-66insCCTCTC (n.-67_-66insCCTCTC)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942039T>A	CA1030070953	SIX3	c.-66T>A (n.-66T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.44942039T>C	CA2658869032	SIX3	c.-66T>C (n.-66T>C)	gnomAD v4
2	g.44942039T=	CA2494534804	SIX3	c.-66T= (n.-66T=)
2	g.44942040C>A	CA769176602	SIX3	c.-65C>A (n.-65C>A)	dbSNP
2	g.44942040C=	CA2494534805	SIX3	c.-65C= (n.-65C=)
2	g.44942040C>T	CA2576956247	SIX3	c.-65C>T (n.-65C>T)	gnomAD v4
2	g.44942046_44942048del	CA2658869034	SIX3	c.-59_-57del (n.-59_-57del)	gnomAD v4
2	g.44942041T>C	CA769176605	SIX3	c.-64T>C (n.-64T>C)	dbSNP
2	g.44942041T=	CA2494534806	SIX3	c.-64T= (n.-64T=)
2	g.44942042C>G	CA2658869037	SIX3	c.-63C>G (n.-63C>G)	gnomAD v4
2	g.44942043C=	CA2494534807	SIX3	c.-62C= (n.-62C=)
2	g.44942043C>G	CA2494534808	SIX3	c.-62C>G (n.-62C>G)	dbSNP gnomAD v4
2	g.44942043C>T	CA2658869040	SIX3	c.-62C>T (n.-62C>T)	gnomAD v4
2	g.44942044T>A	CA2658869042	SIX3	c.-61T>A (n.-61T>A)	gnomAD v4
2	g.44942045C=	CA2494534809	SIX3	c.-60C= (n.-60C=)
2	g.44942045C>T	CA2576956248	SIX3	c.-60C>T (n.-60C>T)
2	g.44942046C>A	CA2658869046	SIX3	c.-59C>A (n.-59C>A)	gnomAD v4
2	g.44942046C=	CA2494534810	SIX3	c.-59C= (n.-59C=)
2	g.44942046C>T	CA2494534811	SIX3	c.-59C>T (n.-59C>T)	dbSNP gnomAD v4
2	g.44942053_44942054insACCCTCTCTCTTCCT	CA2597075080	SIX3	c.-52_-51insACCCTCTCTCTTCCT (n.-52_-51insACCCTCTCTCTTCCT)	gnomAD v3 gnomAD v4
2	g.44942055_44942069dup	CA769176606	SIX3	c.-50_-36dup (n.-50_-36dup)	dbSNP gnomAD v3 gnomAD v4
2	g.44942048C>A	CA2658869049	SIX3	c.-57C>A (n.-57C>A)	gnomAD v4
2	g.44942048C=	CA2494534812	SIX3	c.-57C= (n.-57C=)
2	g.44942048C>T	CA532706748	SIX3	c.-57C>T (n.-57C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.44942050_44942053del	CA2576956249	SIX3	c.-55_-52del (n.-55_-52del)
2	g.44942049T>C	CA2576956250	SIX3	c.-56T>C (n.-56T>C)	gnomAD v4
2	g.44942049T>G	CA2658869050	SIX3	c.-56T>G (n.-56T>G)	gnomAD v4
2	g.44942051C>A	CA2658869051	SIX3	c.-54C>A (n.-54C>A)	gnomAD v4
2	g.44942051C=	CA2494534813	SIX3	c.-54C= (n.-54C=)
2	g.44942051C>T	CA1030070959	SIX3	c.-54C>T (n.-54C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.44942052C=	CA2494534814	SIX3	c.-53C= (n.-53C=)
2	g.44942052C>G	CA2658869053	SIX3	c.-53C>G (n.-53C>G)	gnomAD v4
2	g.44942052C>T	CA1030070962	SIX3	c.-53C>T (n.-53C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.44942053T>A	CA2749734936	SIX3	c.-52T>A (n.-52T>A)
2	g.44942054C>A	CA2494534816	SIX3	c.-51C>A (n.-51C>A)	dbSNP
2	g.44942054C=	CA2494534815	SIX3	c.-51C= (n.-51C=)
2	g.44942054C>G	CA1642216	SIX3	c.-51C>G (n.-51C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942054C>T	CA2494534817	SIX3	c.-51C>T (n.-51C>T)	dbSNP
2	g.44942055C=	CA2494534818	SIX3	c.-50C= (n.-50C=)
2	g.44942055C>T	CA1642217	SIX3	c.-50C>T (n.-50C>T)	dbSNP ExAC gnomAD v2
2	g.44942056C>A	CA2658869057	SIX3	c.-49C>A (n.-49C>A)	gnomAD v4
2	g.44942056C>T	CA2658869058	SIX3	c.-49C>T (n.-49C>T)	gnomAD v4
2	g.44942056_44942058delinsCCT	CA2494534819	SIX3	c.-49_-47delinsCCT (n.-49_-47delinsCCT)
2	g.44942057C>A	CA1030070966	SIX3	c.-48C>A (n.-48C>A)	gnomAD v3 gnomAD v4
2	g.44942057C=	CA2494534820	SIX3	c.-48C= (n.-48C=)
2	g.44942057C>G	CA47011029	SIX3	c.-48C>G (n.-48C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.44942063_44942064del	CA1642218	SIX3	c.-42_-41del (n.-42_-41del)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942060_44942071del	CA2597075082	SIX3	c.-45_-34del (n.-45_-34del)	dbSNP gnomAD v3 gnomAD v4
2	g.44942059C>A	CA2509302258	SIX3	c.-46C>A (n.-46C>A)
2	g.44942059C=	CA2494534821	SIX3	c.-46C= (n.-46C=)
2	g.44942059C>T	CA532706749	SIX3	c.-46C>T (n.-46C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.44942060T>G	CA769176623	SIX3	c.-45T>G (n.-45T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.44942060T=	CA2494534822	SIX3	c.-45T= (n.-45T=)
2	g.44942061C>A	CA2658869069	SIX3	c.-44C>A (n.-44C>A)	gnomAD v4
2	g.44942061C=	CA2494534823	SIX3	c.-44C= (n.-44C=)
2	g.44942061C>G	CA532706750	SIX3	c.-44C>G (n.-44C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.44942061C>T	CA2658869070	SIX3	c.-44C>T (n.-44C>T)	gnomAD v4
2	g.44942063C=	CA2494534824	SIX3	c.-42C= (n.-42C=)
2	g.44942063C>G	CA532706751	SIX3	c.-42C>G (n.-42C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.44942063C>T	CA532706752	SIX3	c.-42C>T (n.-42C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942064T>C	CA532706753	SIX3	c.-41T>C (n.-41T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.44942064T>G	CA2658869072	SIX3	c.-41T>G (n.-41T>G)	gnomAD v4
2	g.44942064T=	CA2494534825	SIX3	c.-41T= (n.-41T=)
2	g.44942066C>A	CA2658869074	SIX3	c.-39C>A (n.-39C>A)	gnomAD v4
2	g.44942066C=	CA2494534826	SIX3	c.-39C= (n.-39C=)
2	g.44942066C>G	CA532706754	SIX3	c.-39C>G (n.-39C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942066C>T	CA2494534827	SIX3	c.-39C>T (n.-39C>T)	dbSNP gnomAD v4
2	g.44942067C=	CA2494534828	SIX3	c.-38C= (n.-38C=)
2	g.44942067C>T	CA2494534829	SIX3	c.-38C>T (n.-38C>T)	dbSNP gnomAD v4
2	g.44942068T>A	CA1642220	SIX3	c.-37T>A (n.-37T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942068T>C	CA1642219	SIX3	c.-37T>C (n.-37T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942068T=	CA2494534830	SIX3	c.-37T= (n.-37T=)
2	g.44942069C>A	CA2658869077	SIX3	c.-36C>A (n.-36C>A)	gnomAD v4
2	g.44942069C=	CA2494534831	SIX3	c.-36C= (n.-36C=)
2	g.44942069C>G	CA1642221	SIX3	c.-36C>G (n.-36C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942069C>T	CA47011030	SIX3	c.-36C>T (n.-36C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.44942070T>G	CA2658869080	SIX3	c.-35T>G (n.-35T>G)	gnomAD v4
2	g.44942071C>A	CA2576956251	SIX3	c.-34C>A (n.-34C>A)
2	g.44942071C=	CA2494534832	SIX3	c.-34C= (n.-34C=)
2	g.44942071C>T	CA1642222	SIX3	c.-34C>T (n.-34C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942072C>A	CA2658869086	SIX3	c.-33C>A (n.-33C>A)	gnomAD v4
2	g.44942072C=	CA2494534833	SIX3	c.-33C= (n.-33C=)
2	g.44942072C>T	CA47011031	SIX3	c.-33C>T (n.-33C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.44942073C>A	CA2658869089	SIX3	c.-32C>A (n.-32C>A)	gnomAD v4
2	g.44942073C=	CA2494534834	SIX3	c.-32C= (n.-32C=)
2	g.44942073C>T	CA532706755	SIX3	c.-32C>T (n.-32C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.44942074T>C	CA2658869094	SIX3	c.-31T>C (n.-31T>C)	gnomAD v4
2	g.44942074T>G	CA532706756	SIX3	c.-31T>G (n.-31T>G)	dbSNP gnomAD v2 gnomAD v4
2	g.44942074T=	CA2494534835	SIX3	c.-31T= (n.-31T=)
2	g.44942076A>C	CA1030070975	SIX3	c.-29A>C (n.-29A>C)	gnomAD v3 gnomAD v4
2	g.44942077A=	CA2494534836	SIX3	c.-28A= (n.-28A=)
2	g.44942077A>C	CA2494534837	SIX3	c.-28A>C (n.-28A>C)	dbSNP
2	g.44942078T>G	CA2658869097	SIX3	c.-27T>G (n.-27T>G)	gnomAD v4
2	g.44942080_44942085delinsTTCTCC	CA2494534838	SIX3	c.-25_-20delinsTTCTCC (n.-25_-20delinsTTCTCC)
2	g.44942090_44942094del	CA2494534839	SIX3	c.-15_-11del (n.-15_-11del)	dbSNP gnomAD v4
2	g.44942082C>A	CA2567600916	SIX3	c.-23C>A (n.-23C>A)	gnomAD v4
2	g.44942082C=	CA2494534840	SIX3	c.-23C= (n.-23C=)
2	g.44942082C>G	CA1642223	SIX3	c.-23C>G (n.-23C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942084C>A	CA2576956252	SIX3	c.-21C>A (n.-21C>A)
2	g.44942084C=	CA2494534841	SIX3	c.-21C= (n.-21C=)
2	g.44942084C>G	CA532706757	SIX3	c.-21C>G (n.-21C>G)	dbSNP gnomAD v2
2	g.44942084C>T	CA646837057	SIX3	c.-21C>T (n.-21C>T)	COSMIC
2	g.44942085C>G	CA2658869103	SIX3	c.-20C>G (n.-20C>G)	gnomAD v4
2	g.44942085C>T	CA2576956253	SIX3	c.-20C>T (n.-20C>T)
2	g.44942086T>G	CA2658869104	SIX3	c.-19T>G (n.-19T>G)	gnomAD v4
2	g.44942087C>A	CA2658869106	SIX3	c.-18C>A (n.-18C>A)	gnomAD v4
2	g.44942087C=	CA2494534842	SIX3	c.-18C= (n.-18C=)
2	g.44942087C>G	CA532706758	SIX3	c.-18C>G (n.-18C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.44942087C>T	CA2658869107	SIX3	c.-18C>T (n.-18C>T)	gnomAD v4
2	g.44942088T>G	CA2658869108	SIX3	c.-17T>G (n.-17T>G)	gnomAD v4
2	g.44942089C=	CA2494534843	SIX3	c.-16C= (n.-16C=)
2	g.44942089C>G	CA2749734937	SIX3	c.-16C>G (n.-16C>G)
2	g.44942089C>T	CA769176648	SIX3	c.-16C>T (n.-16C>T)	dbSNP gnomAD v4
2	g.44942090C=	CA2494534844	SIX3	c.-15C= (n.-15C=)
2	g.44942090C>G	CA1642225	SIX3	c.-15C>G (n.-15C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942090C>T	CA1642224	SIX3	c.-15C>T (n.-15C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942091T>C	CA2658869114	SIX3	c.-14T>C (n.-14T>C)	gnomAD v4
2	g.44942092C=	CA2494534845	SIX3	c.-13C= (n.-13C=)
2	g.44942092C>T	CA1642226	SIX3	c.-13C>T (n.-13C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942094C>A	CA2658869117	SIX3	c.-11C>A (n.-11C>A)	gnomAD v4
2	g.44942095A=	CA2494534846	SIX3	c.-10A= (n.-10A=)
2	g.44942095A>G	CA2494534847	SIX3	c.-10A>G (n.-10A>G)	dbSNP gnomAD v4
2	g.44942096G>A	CA1642227	SIX3	c.-9G>A (n.-9G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942096G>C	CA2658869125	SIX3	c.-9G>C (n.-9G>C)	dbSNP gnomAD v4
2	g.44942096G=	CA2494534848	SIX3	c.-9G= (n.-9G=)
2	g.44942097G>A	CA2503496699	SIX3	c.-8G>A (n.-8G>A)	gnomAD v4
2	g.44942097G>C	CA2658869127	SIX3	c.-8G>C (n.-8G>C)	gnomAD v4
2	g.44942097G=	CA2494534849	SIX3	c.-8G= (n.-8G=)
2	g.44942097G>T	CA1642228	SIX3	c.-8G>T (n.-8G>T)	dbSNP ExAC gnomAD v2
2	g.44942098T>C	CA2658869129	SIX3	c.-7T>C (n.-7T>C)	gnomAD v4
2	g.44942099C>A	CA2658869130	SIX3	c.-6C>A (n.-6C>A)	gnomAD v4
2	g.44942100A=	CA2494534850	SIX3	c.-5A= (n.-5A=)
2	g.44942100A>T	CA1642229	SIX3	c.-5A>T (n.-5A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942102T>C	CA2576956255	SIX3	c.-3T>C (n.-3T>C)	gnomAD v4
2	g.44942103C=	CA2494534851	SIX3	c.-2C= (n.-2C=)
2	g.44942103C>G	CA238820	SIX3	c.-2C>G (n.-2C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942105A=	CA2494534852	SIX3	c.1A= (p.Met1=)
2	g.44942105A>C	CA346798673	SIX3	c.1A>C (p.Met1Leu)
2	g.44942105A>G	CA346798674	SIX3	c.1A>G (p.Met1Val)	ClinVar dbSNP gnomAD v4
2	g.44942105A>T	CA346798675	SIX3	c.1A>T (p.Met1Leu)	gnomAD v4
2	g.44942106T>A	CA346798676	SIX3	c.2T>A (p.Met1Lys)	gnomAD v4
2	g.44942106T>C	CA346798677	SIX3	c.2T>C (p.Met1Thr)	dbSNP gnomAD v4
2	g.44942106T>G	CA346798678	SIX3	c.2T>G (p.Met1Arg)	gnomAD v4
2	g.44942106T=	CA2494534853	SIX3	c.2T= (p.Met1=)
2	g.44942107G>A	CA346798679	SIX3	c.3G>A (p.Met1Ile)
2	g.44942107G>C	CA346798680	SIX3	c.3G>C (p.Met1Ile)
2	g.44942107G>T	CA346798681	SIX3	c.3G>T (p.Met1Ile)
2	g.44942108G>A	CA1642230	SIX3	c.4G>A (p.Val2Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942108G>C	CA346798682	SIX3	c.4G>C (p.Val2Leu)
2	g.44942108G=	CA2494534854	SIX3	c.4G= (p.Val2=)
2	g.44942108G>T	CA346798683	SIX3	c.4G>T (p.Val2Leu)
2	g.44942109T>A	CA346798684	SIX3	c.5T>A (p.Val2Glu)
2	g.44942109T>C	CA346798685	SIX3	c.5T>C (p.Val2Ala)
2	g.44942109T>G	CA346798686	SIX3	c.5T>G (p.Val2Gly)	gnomAD v4
2	g.44942110A>C	CA426045563	SIX3	c.6A>C (p.Val2=)	ClinVar gnomAD v4
2	g.44942110A>G	CA426045564	SIX3	c.6A>G (p.Val2=)
2	g.44942110A>T	CA426045565	SIX3	c.6A>T (p.Val2=)
2	g.44942111T>A	CA346798687	SIX3	c.7T>A (p.Phe3Ile)
2	g.44942111T>C	CA346798688	SIX3	c.7T>C (p.Phe3Leu)
2	g.44942111T>G	CA346798689	SIX3	c.7T>G (p.Phe3Val)	gnomAD v4
2	g.44942112T>A	CA346798690	SIX3	c.8T>A (p.Phe3Tyr)
2	g.44942112T>C	CA346798691	SIX3	c.8T>C (p.Phe3Ser)
2	g.44942112T>G	CA346798692	SIX3	c.8T>G (p.Phe3Cys)
2	g.44942113C>A	CA346798693	SIX3	c.9C>A (p.Phe3Leu)
2	g.44942113C=	CA2494534855	SIX3	c.9C= (p.Phe3=)
2	g.44942113C>G	CA346798694	SIX3	c.9C>G (p.Phe3Leu)
2	g.44942113C>T	CA426045566	SIX3	c.9C>T (p.Phe3=)	dbSNP gnomAD v4
2	g.44942114C>A	CA346798696	SIX3	c.10C>A (p.Arg4Ser)
2	g.44942114C>G	CA346798697	SIX3	c.10C>G (p.Arg4Gly)
2	g.44942114C>T	CA346798695	SIX3	c.10C>T (p.Arg4Cys)
2	g.44942115G>A	CA346798698	SIX3	c.11G>A (p.Arg4His)	gnomAD v4
2	g.44942115G>C	CA346798699	SIX3	c.11G>C (p.Arg4Pro)
2	g.44942115G>T	CA346798700	SIX3	c.11G>T (p.Arg4Leu)
2	g.44942116C>A	CA426045567	SIX3	c.12C>A (p.Arg4=)	gnomAD v4
2	g.44942116C=	CA2494534856	SIX3	c.12C= (p.Arg4=)
2	g.44942116C>G	CA426045568	SIX3	c.12C>G (p.Arg4=)
2	g.44942116C>T	CA426045569	SIX3	c.12C>T (p.Arg4=)	dbSNP
2	g.44942117T>A	CA346798701	SIX3	c.13T>A (p.Ser5Thr)
2	g.44942117T>C	CA346798702	SIX3	c.13T>C (p.Ser5Pro)	dbSNP gnomAD v4
2	g.44942117T>G	CA346798703	SIX3	c.13T>G (p.Ser5Ala)
2	g.44942117T=	CA2494534857	SIX3	c.13T= (p.Ser5=)
2	g.44942118C>A	CA1642231	SIX3	c.14C>A (p.Ser5Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942118C=	CA2494534858	SIX3	c.14C= (p.Ser5=)
2	g.44942118C>G	CA1642232	SIX3	c.14C>G (p.Ser5Cys)	dbSNP ExAC
2	g.44942118C>T	CA346798704	SIX3	c.14C>T (p.Ser5Phe)	dbSNP gnomAD v2 gnomAD v4
2	g.44942123dup	CA2658869169	SIX3	c.19dup (p.Leu7ProfsTer26)	gnomAD v4
2	g.44942123del	CA2658869170	SIX3	c.19del (p.Leu7Ter)	gnomAD v4
2	g.44942119C>A	CA426045570	SIX3	c.15C>A (p.Ser5=)	gnomAD v4
2	g.44942119C=	CA2494534859	SIX3	c.15C= (p.Ser5=)
2	g.44942119C>G	CA426045571	SIX3	c.15C>G (p.Ser5=)
2	g.44942119C>T	CA1642233	SIX3	c.15C>T (p.Ser5=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942120C>A	CA346798705	SIX3	c.16C>A (p.Pro6Thr)
2	g.44942120C>G	CA346798706	SIX3	c.16C>G (p.Pro6Ala)
2	g.44942120C>T	CA346798707	SIX3	c.16C>T (p.Pro6Ser)
2	g.44942121C>A	CA346798709	SIX3	c.17C>A (p.Pro6His)
2	g.44942121C=	CA2494534860	SIX3	c.17C= (p.Pro6=)
2	g.44942121C>G	CA346798708	SIX3	c.17C>G (p.Pro6Arg)	dbSNP
2	g.44942121C>T	CA1642234	SIX3	c.17C>T (p.Pro6Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942122C>A	CA1642235	SIX3	c.18C>A (p.Pro6=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942122C=	CA2494534861	SIX3	c.18C= (p.Pro6=)
2	g.44942122C>G	CA1642236	SIX3	c.18C>G (p.Pro6=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942122C>T	CA1642237	SIX3	c.18C>T (p.Pro6=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942123C>A	CA346798710	SIX3	c.19C>A (p.Leu7Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.44942123C=	CA2494534863	SIX3	c.19C= (p.Leu7=)
2	g.44942123C>G	CA346798711	SIX3	c.19C>G (p.Leu7Val)	gnomAD v4
2	g.44942123C>T	CA426045572	SIX3	c.19C>T (p.Leu7=)
2	g.44942123_44942124delinsCT	CA2494534862	SIX3	c.19_20delinsCT (p.Leu7=)
2	g.44942124del	CA769176718	SIX3	c.20del (p.Leu7GlnfsTer?)	ClinVar dbSNP gnomAD v4
2	g.44942124T>A	CA346798712	SIX3	c.20T>A (p.Leu7Gln)	dbSNP
2	g.44942124T>C	CA346798713	SIX3	c.20T>C (p.Leu7Pro)	gnomAD v4
2	g.44942124T>G	CA346798714	SIX3	c.20T>G (p.Leu7Arg)
2	g.44942124T=	CA2494534864	SIX3	c.20T= (p.Leu7=)

Number of alleles fetched