Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73489832A>C	CA347266101	ALMS1	c.7492A>C (p.Lys2498Gln) c.884A>C c.4944A>C c.1939A>C (p.Lys647Gln) c.7873A>C (p.Lys2625Gln) c.896-29943A>C c.2704A>C (p.Lys902Gln) c.7747A>C (p.Lys2583Gln) n.1676A>C c.7876A>C (p.Lys2626Gln)
2	g.73489832A>G	CA347266102	ALMS1	c.7492A>G (p.Lys2498Glu) c.884A>G c.4944A>G c.1939A>G (p.Lys647Glu) c.7873A>G (p.Lys2625Glu) c.896-29943A>G c.2704A>G (p.Lys902Glu) c.7747A>G (p.Lys2583Glu) n.1676A>G c.7876A>G (p.Lys2626Glu)
2	g.73489832A>T	CA347266103	ALMS1	c.7492A>T (p.Lys2498Ter) c.884A>T c.4944A>T c.1939A>T (p.Lys647Ter) c.7873A>T (p.Lys2625Ter) c.896-29943A>T c.2704A>T (p.Lys902Ter) c.7747A>T (p.Lys2583Ter) n.1676A>T c.7876A>T (p.Lys2626Ter)
2	g.73489833A=	CA1260981185	ALMS1	c.7493A= (p.Lys2498=) c.885A= c.4945A= c.1940A= (p.Lys647=) c.7874A= (p.Lys2625=) c.896-29942A= c.2705A= (p.Lys902=) c.7748A= (p.Lys2583=) n.1677A= c.7877A= (p.Lys2626=)
2	g.73489833A>C	CA347266104	ALMS1	c.7493A>C (p.Lys2498Thr) c.885A>C c.4945A>C c.1940A>C (p.Lys647Thr) c.7874A>C (p.Lys2625Thr) c.896-29942A>C c.2705A>C (p.Lys902Thr) c.7748A>C (p.Lys2583Thr) n.1677A>C c.7877A>C (p.Lys2626Thr)
2	g.73489833A>G	CA347266105	ALMS1	c.7493A>G (p.Lys2498Arg) c.885A>G c.4945A>G c.1940A>G (p.Lys647Arg) c.7874A>G (p.Lys2625Arg) c.896-29942A>G c.2705A>G (p.Lys902Arg) c.7748A>G (p.Lys2583Arg) n.1677A>G c.7877A>G (p.Lys2626Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489833A>T	CA347266106	ALMS1	c.7493A>T (p.Lys2498Met) c.885A>T c.4945A>T c.1940A>T (p.Lys647Met) c.7874A>T (p.Lys2625Met) c.896-29942A>T c.2705A>T (p.Lys902Met) c.7748A>T (p.Lys2583Met) n.1677A>T c.7877A>T (p.Lys2626Met)
2	g.73489834G>A	CA427000661	ALMS1	c.7494G>A (p.Lys2498=) c.886G>A c.4946G>A c.1941G>A (p.Lys647=) c.7875G>A (p.Lys2625=) c.896-29941G>A c.2706G>A (p.Lys902=) c.7749G>A (p.Lys2583=) n.1678G>A c.7878G>A (p.Lys2626=)
2	g.73489834G>C	CA347266107	ALMS1	c.7494G>C (p.Lys2498Asn) c.886G>C c.4946G>C c.1941G>C (p.Lys647Asn) c.7875G>C (p.Lys2625Asn) c.896-29941G>C c.2706G>C (p.Lys902Asn) c.7749G>C (p.Lys2583Asn) n.1678G>C c.7878G>C (p.Lys2626Asn)
2	g.73489834G>T	CA347266108	ALMS1	c.7494G>T (p.Lys2498Asn) c.886G>T c.4946G>T c.1941G>T (p.Lys647Asn) c.7875G>T (p.Lys2625Asn) c.896-29941G>T c.2706G>T (p.Lys902Asn) c.7749G>T (p.Lys2583Asn) n.1678G>T c.7878G>T (p.Lys2626Asn)
2	g.73489835C>A	CA347266109	ALMS1	c.7495C>A (p.His2499Asn) c.887C>A c.4947C>A c.1942C>A (p.His648Asn) c.7876C>A (p.His2626Asn) c.896-29940C>A c.2707C>A (p.His903Asn) c.7750C>A (p.His2584Asn) n.1679C>A c.7879C>A (p.His2627Asn)
2	g.73489835C=	CA1260981186	ALMS1	c.7495C= (p.His2499=) c.887C= c.4947C= c.1942C= (p.His648=) c.7876C= (p.His2626=) c.896-29940C= c.2707C= (p.His903=) c.7750C= (p.His2584=) n.1679C= c.7879C= (p.His2627=)
2	g.73489835C>G	CA347266111	ALMS1	c.7495C>G (p.His2499Asp) c.887C>G c.4947C>G c.1942C>G (p.His648Asp) c.7876C>G (p.His2626Asp) c.896-29940C>G c.2707C>G (p.His903Asp) c.7750C>G (p.His2584Asp) n.1679C>G c.7879C>G (p.His2627Asp)	dbSNP gnomAD v4
2	g.73489835C>T	CA347266113	ALMS1	c.7495C>T (p.His2499Tyr) c.887C>T c.4947C>T c.1942C>T (p.His648Tyr) c.7876C>T (p.His2626Tyr) c.896-29940C>T c.2707C>T (p.His903Tyr) c.7750C>T (p.His2584Tyr) n.1679C>T c.7879C>T (p.His2627Tyr)	gnomAD v4
2	g.73489836A=	CA1260981187	ALMS1	c.7496A= (p.His2499=) c.888A= c.4948A= c.1943A= (p.His648=) c.7877A= (p.His2626=) c.896-29939A= c.2708A= (p.His903=) c.7751A= (p.His2584=) n.1680A= c.7880A= (p.His2627=)
2	g.73489836A>C	CA347266119	ALMS1	c.7496A>C (p.His2499Pro) c.888A>C c.4948A>C c.1943A>C (p.His648Pro) c.7877A>C (p.His2626Pro) c.896-29939A>C c.2708A>C (p.His903Pro) c.7751A>C (p.His2584Pro) n.1680A>C c.7880A>C (p.His2627Pro)
2	g.73489836A>G	CA1714363	ALMS1	c.7496A>G (p.His2499Arg) c.888A>G c.4948A>G c.1943A>G (p.His648Arg) c.7877A>G (p.His2626Arg) c.896-29939A>G c.2708A>G (p.His903Arg) c.7751A>G (p.His2584Arg) n.1680A>G c.7880A>G (p.His2627Arg)	dbSNP ExAC gnomAD v4
2	g.73489836A>T	CA347266116	ALMS1	c.7496A>T (p.His2499Leu) c.888A>T c.4948A>T c.1943A>T (p.His648Leu) c.7877A>T (p.His2626Leu) c.896-29939A>T c.2708A>T (p.His903Leu) c.7751A>T (p.His2584Leu) n.1680A>T c.7880A>T (p.His2627Leu)
2	g.73489837T>A	CA50377602	ALMS1	c.7497T>A (p.His2499Gln) c.889T>A c.4949T>A c.1944T>A (p.His648Gln) c.7878T>A (p.His2626Gln) c.896-29938T>A c.2709T>A (p.His903Gln) c.7752T>A (p.His2584Gln) n.1681T>A c.7881T>A (p.His2627Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73489837T>C	CA427000662	ALMS1	c.7497T>C (p.His2499=) c.889T>C c.4949T>C c.1944T>C (p.His648=) c.7878T>C (p.His2626=) c.896-29938T>C c.2709T>C (p.His903=) c.7752T>C (p.His2584=) n.1681T>C c.7881T>C (p.His2627=)	gnomAD v4
2	g.73489837T>G	CA347266133	ALMS1	c.7497T>G (p.His2499Gln) c.889T>G c.4949T>G c.1944T>G (p.His648Gln) c.7878T>G (p.His2626Gln) c.896-29938T>G c.2709T>G (p.His903Gln) c.7752T>G (p.His2584Gln) n.1681T>G c.7881T>G (p.His2627Gln)
2	g.73489837T=	CA1260981188	ALMS1	c.7497T= (p.His2499=) c.889T= c.4949T= c.1944T= (p.His648=) c.7878T= (p.His2626=) c.896-29938T= c.2709T= (p.His903=) c.7752T= (p.His2584=) n.1681T= c.7881T= (p.His2627=)
2	g.73489838G>A	CA347266135	ALMS1	c.7498G>A (p.Val2500Ile) c.890G>A c.4950G>A c.1945G>A (p.Val649Ile) c.7879G>A (p.Val2627Ile) c.896-29937G>A c.2710G>A (p.Val904Ile) c.7753G>A (p.Val2585Ile) n.1682G>A c.7882G>A (p.Val2628Ile)
2	g.73489838G>C	CA347266138	ALMS1	c.7498G>C (p.Val2500Leu) c.890G>C c.4950G>C c.1945G>C (p.Val649Leu) c.7879G>C (p.Val2627Leu) c.896-29937G>C c.2710G>C (p.Val904Leu) c.7753G>C (p.Val2585Leu) n.1682G>C c.7882G>C (p.Val2628Leu)
2	g.73489838G>T	CA347266141	ALMS1	c.7498G>T (p.Val2500Phe) c.890G>T c.4950G>T c.1945G>T (p.Val649Phe) c.7879G>T (p.Val2627Phe) c.896-29937G>T c.2710G>T (p.Val904Phe) c.7753G>T (p.Val2585Phe) n.1682G>T c.7882G>T (p.Val2628Phe)
2	g.73489838_73489839insACAG	CA2499216253	ALMS1	c.7498_7499insACAG (p.Val2500AspfsTer?) c.890_891insACAG c.4950_4951insACAG c.1945_1946insACAG (p.Val649AspfsTer?) c.7879_7880insACAG (p.Val2627AspfsTer?) c.896-29937_896-29936insACAG c.2710_2711insACAG (p.Val904AspfsTer?) c.7753_7754insACAG (p.Val2585AspfsTer?) n.1682_1683insACAG c.7882_7883insACAG (p.Val2628AspfsTer?)	ClinVar dbSNP
2	g.73489839T>A	CA347266145	ALMS1	c.7499T>A (p.Val2500Asp) c.891T>A c.4951T>A c.1946T>A (p.Val649Asp) c.7880T>A (p.Val2627Asp) c.896-29936T>A c.2711T>A (p.Val904Asp) c.7754T>A (p.Val2585Asp) n.1683T>A c.7883T>A (p.Val2628Asp)
2	g.73489839T>C	CA347266146	ALMS1	c.7499T>C (p.Val2500Ala) c.891T>C c.4951T>C c.1946T>C (p.Val649Ala) c.7880T>C (p.Val2627Ala) c.896-29936T>C c.2711T>C (p.Val904Ala) c.7754T>C (p.Val2585Ala) n.1683T>C c.7883T>C (p.Val2628Ala)
2	g.73489839T>G	CA347266148	ALMS1	c.7499T>G (p.Val2500Gly) c.891T>G c.4951T>G c.1946T>G (p.Val649Gly) c.7880T>G (p.Val2627Gly) c.896-29936T>G c.2711T>G (p.Val904Gly) c.7754T>G (p.Val2585Gly) n.1683T>G c.7883T>G (p.Val2628Gly)
2	g.73489840C>A	CA427000663	ALMS1	c.7500C>A (p.Val2500=) c.892C>A c.4952C>A c.1947C>A (p.Val649=) c.7881C>A (p.Val2627=) c.896-29935C>A c.2712C>A (p.Val904=) c.7755C>A (p.Val2585=) n.1684C>A c.7884C>A (p.Val2628=)
2	g.73489840C>G	CA427000664	ALMS1	c.7500C>G (p.Val2500=) c.892C>G c.4952C>G c.1947C>G (p.Val649=) c.7881C>G (p.Val2627=) c.896-29935C>G c.2712C>G (p.Val904=) c.7755C>G (p.Val2585=) n.1684C>G c.7884C>G (p.Val2628=)
2	g.73489840C>T	CA427000665	ALMS1	c.7500C>T (p.Val2500=) c.892C>T c.4952C>T c.1947C>T (p.Val649=) c.7881C>T (p.Val2627=) c.896-29935C>T c.2712C>T (p.Val904=) c.7755C>T (p.Val2585=) n.1684C>T c.7884C>T (p.Val2628=)
2	g.73489841A=	CA1260981189	ALMS1	c.7501A= (p.Asn2501=) c.893A= c.4953A= c.1948A= (p.Asn650=) c.7882A= (p.Asn2628=) c.896-29934A= c.2713A= (p.Asn905=) c.7756A= (p.Asn2586=) n.1685A= c.7885A= (p.Asn2629=)
2	g.73489841A>C	CA50377604	ALMS1	c.7501A>C (p.Asn2501His) c.893A>C c.4953A>C c.1948A>C (p.Asn650His) c.7882A>C (p.Asn2628His) c.896-29934A>C c.2713A>C (p.Asn905His) c.7756A>C (p.Asn2586His) n.1685A>C c.7885A>C (p.Asn2629His)	dbSNP gnomAD v4
2	g.73489841A>G	CA347266153	ALMS1	c.7501A>G (p.Asn2501Asp) c.893A>G c.4953A>G c.1948A>G (p.Asn650Asp) c.7882A>G (p.Asn2628Asp) c.896-29934A>G c.2713A>G (p.Asn905Asp) c.7756A>G (p.Asn2586Asp) n.1685A>G c.7885A>G (p.Asn2629Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.73489841A>T	CA347266157	ALMS1	c.7501A>T (p.Asn2501Tyr) c.893A>T c.4953A>T c.1948A>T (p.Asn650Tyr) c.7882A>T (p.Asn2628Tyr) c.896-29934A>T c.2713A>T (p.Asn905Tyr) c.7756A>T (p.Asn2586Tyr) n.1685A>T c.7885A>T (p.Asn2629Tyr)
2	g.73489842A=	CA1260981190	ALMS1	c.7502A= (p.Asn2501=) c.894A= c.4954A= c.1949A= (p.Asn650=) c.7883A= (p.Asn2628=) c.896-29933A= c.2714A= (p.Asn905=) c.7757A= (p.Asn2586=) n.1686A= c.7886A= (p.Asn2629=)
2	g.73489842A>C	CA347266167	ALMS1	c.7502A>C (p.Asn2501Thr) c.894A>C c.4954A>C c.1949A>C (p.Asn650Thr) c.7883A>C (p.Asn2628Thr) c.896-29933A>C c.2714A>C (p.Asn905Thr) c.7757A>C (p.Asn2586Thr) n.1686A>C c.7886A>C (p.Asn2629Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.73489842A>G	CA1714364	ALMS1	c.7502A>G (p.Asn2501Ser) c.894A>G c.4954A>G c.1949A>G (p.Asn650Ser) c.7883A>G (p.Asn2628Ser) c.896-29933A>G c.2714A>G (p.Asn905Ser) c.7757A>G (p.Asn2586Ser) n.1686A>G c.7886A>G (p.Asn2629Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489842A>T	CA347266163	ALMS1	c.7502A>T (p.Asn2501Ile) c.894A>T c.4954A>T c.1949A>T (p.Asn650Ile) c.7883A>T (p.Asn2628Ile) c.896-29933A>T c.2714A>T (p.Asn905Ile) c.7757A>T (p.Asn2586Ile) n.1686A>T c.7886A>T (p.Asn2629Ile)	gnomAD v4
2	g.73489843C>A	CA347266169	ALMS1	c.7503C>A (p.Asn2501Lys) c.895C>A c.4955C>A c.1950C>A (p.Asn650Lys) c.7884C>A (p.Asn2628Lys) c.896-29932C>A c.2715C>A (p.Asn905Lys) c.7758C>A (p.Asn2586Lys) n.1687C>A c.7887C>A (p.Asn2629Lys)
2	g.73489843C>G	CA347266170	ALMS1	c.7503C>G (p.Asn2501Lys) c.895C>G c.4955C>G c.1950C>G (p.Asn650Lys) c.7884C>G (p.Asn2628Lys) c.896-29932C>G c.2715C>G (p.Asn905Lys) c.7758C>G (p.Asn2586Lys) n.1687C>G c.7887C>G (p.Asn2629Lys)
2	g.73489843C>T	CA427000666	ALMS1	c.7503C>T (p.Asn2501=) c.895C>T c.4955C>T c.1950C>T (p.Asn650=) c.7884C>T (p.Asn2628=) c.896-29932C>T c.2715C>T (p.Asn905=) c.7758C>T (p.Asn2586=) n.1687C>T c.7887C>T (p.Asn2629=)
2	g.73489844C>A	CA347266171	ALMS1	c.7504C>A (p.Leu2502Ile) c.896C>A c.4956C>A c.1951C>A (p.Leu651Ile) c.7885C>A (p.Leu2629Ile) c.896-29931C>A c.2716C>A (p.Leu906Ile) c.7759C>A (p.Leu2587Ile) n.1688C>A c.7888C>A (p.Leu2630Ile)
2	g.73489844C>G	CA347266173	ALMS1	c.7504C>G (p.Leu2502Val) c.896C>G c.4956C>G c.1951C>G (p.Leu651Val) c.7885C>G (p.Leu2629Val) c.896-29931C>G c.2716C>G (p.Leu906Val) c.7759C>G (p.Leu2587Val) n.1688C>G c.7888C>G (p.Leu2630Val)	gnomAD v4
2	g.73489844C>T	CA347266176	ALMS1	c.7504C>T (p.Leu2502Phe) c.896C>T c.4956C>T c.1951C>T (p.Leu651Phe) c.7885C>T (p.Leu2629Phe) c.896-29931C>T c.2716C>T (p.Leu906Phe) c.7759C>T (p.Leu2587Phe) n.1688C>T c.7888C>T (p.Leu2630Phe)	gnomAD v4
2	g.73489845T>A	CA347266182	ALMS1	c.7505T>A (p.Leu2502His) c.897T>A c.4957T>A c.1952T>A (p.Leu651His) c.7886T>A (p.Leu2629His) c.896-29930T>A c.2717T>A (p.Leu906His) c.7760T>A (p.Leu2587His) n.1689T>A c.7889T>A (p.Leu2630His)
2	g.73489845T>C	CA347266181	ALMS1	c.7505T>C (p.Leu2502Pro) c.897T>C c.4957T>C c.1952T>C (p.Leu651Pro) c.7886T>C (p.Leu2629Pro) c.896-29930T>C c.2717T>C (p.Leu906Pro) c.7760T>C (p.Leu2587Pro) n.1689T>C c.7889T>C (p.Leu2630Pro)
2	g.73489845T>G	CA347266178	ALMS1	c.7505T>G (p.Leu2502Arg) c.897T>G c.4957T>G c.1952T>G (p.Leu651Arg) c.7886T>G (p.Leu2629Arg) c.896-29930T>G c.2717T>G (p.Leu906Arg) c.7760T>G (p.Leu2587Arg) n.1689T>G c.7889T>G (p.Leu2630Arg)
2	g.73489846T>A	CA427000667	ALMS1	c.7506T>A (p.Leu2502=) c.898T>A c.4958T>A c.1953T>A (p.Leu651=) c.7887T>A (p.Leu2629=) c.896-29929T>A c.2718T>A (p.Leu906=) c.7761T>A (p.Leu2587=) n.1690T>A c.7890T>A (p.Leu2630=)
2	g.73489846T>C	CA427000668	ALMS1	c.7506T>C (p.Leu2502=) c.898T>C c.4958T>C c.1953T>C (p.Leu651=) c.7887T>C (p.Leu2629=) c.896-29929T>C c.2718T>C (p.Leu906=) c.7761T>C (p.Leu2587=) n.1690T>C c.7890T>C (p.Leu2630=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73489846T>G	CA427000669	ALMS1	c.7506T>G (p.Leu2502=) c.898T>G c.4958T>G c.1953T>G (p.Leu651=) c.7887T>G (p.Leu2629=) c.896-29929T>G c.2718T>G (p.Leu906=) c.7761T>G (p.Leu2587=) n.1690T>G c.7890T>G (p.Leu2630=)	ClinVar dbSNP
2	g.73489846T=	CA1260981191	ALMS1	c.7506T= (p.Leu2502=) c.898T= c.4958T= c.1953T= (p.Leu651=) c.7887T= (p.Leu2629=) c.896-29929T= c.2718T= (p.Leu906=) c.7761T= (p.Leu2587=) n.1690T= c.7890T= (p.Leu2630=)
2	g.73489847T>A	CA347266185	ALMS1	c.7507T>A (p.Ser2503Thr) c.899T>A c.4959T>A c.1954T>A (p.Ser652Thr) c.7888T>A (p.Ser2630Thr) c.896-29928T>A c.2719T>A (p.Ser907Thr) c.7762T>A (p.Ser2588Thr) n.1691T>A c.7891T>A (p.Ser2631Thr)
2	g.73489847T>C	CA347266187	ALMS1	c.7507T>C (p.Ser2503Pro) c.899T>C c.4959T>C c.1954T>C (p.Ser652Pro) c.7888T>C (p.Ser2630Pro) c.896-29928T>C c.2719T>C (p.Ser907Pro) c.7762T>C (p.Ser2588Pro) n.1691T>C c.7891T>C (p.Ser2631Pro)
2	g.73489847T>G	CA347266190	ALMS1	c.7507T>G (p.Ser2503Ala) c.899T>G c.4959T>G c.1954T>G (p.Ser652Ala) c.7888T>G (p.Ser2630Ala) c.896-29928T>G c.2719T>G (p.Ser907Ala) c.7762T>G (p.Ser2588Ala) n.1691T>G c.7891T>G (p.Ser2631Ala)	ClinVar dbSNP
2	g.73489847T=	CA1260981192	ALMS1	c.7507T= (p.Ser2503=) c.899T= c.4959T= c.1954T= (p.Ser652=) c.7888T= (p.Ser2630=) c.896-29928T= c.2719T= (p.Ser907=) c.7762T= (p.Ser2588=) n.1691T= c.7891T= (p.Ser2631=)
2	g.73489848C>A	CA347266192	ALMS1	c.7508C>A (p.Ser2503Tyr) c.900C>A c.4960C>A c.1955C>A (p.Ser652Tyr) c.7889C>A (p.Ser2630Tyr) c.896-29927C>A c.2720C>A (p.Ser907Tyr) c.7763C>A (p.Ser2588Tyr) n.1692C>A c.7892C>A (p.Ser2631Tyr)
2	g.73489848C=	CA1260981193	ALMS1	c.7508C= (p.Ser2503=) c.900C= c.4960C= c.1955C= (p.Ser652=) c.7889C= (p.Ser2630=) c.896-29927C= c.2720C= (p.Ser907=) c.7763C= (p.Ser2588=) n.1692C= c.7892C= (p.Ser2631=)
2	g.73489848C>G	CA1714365	ALMS1	c.7508C>G (p.Ser2503Cys) c.900C>G c.4960C>G c.1955C>G (p.Ser652Cys) c.7889C>G (p.Ser2630Cys) c.896-29927C>G c.2720C>G (p.Ser907Cys) c.7763C>G (p.Ser2588Cys) n.1692C>G c.7892C>G (p.Ser2631Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489848C>T	CA347266194	ALMS1	c.7508C>T (p.Ser2503Phe) c.900C>T c.4960C>T c.1955C>T (p.Ser652Phe) c.7889C>T (p.Ser2630Phe) c.896-29927C>T c.2720C>T (p.Ser907Phe) c.7763C>T (p.Ser2588Phe) n.1692C>T c.7892C>T (p.Ser2631Phe)	dbSNP gnomAD v4
2	g.73489849T>A	CA427000670	ALMS1	c.7509T>A (p.Ser2503=) c.901T>A c.4961T>A c.1956T>A (p.Ser652=) c.7890T>A (p.Ser2630=) c.896-29926T>A c.2721T>A (p.Ser907=) c.7764T>A (p.Ser2588=) n.1693T>A c.7893T>A (p.Ser2631=)
2	g.73489849T>C	CA427000671	ALMS1	c.7509T>C (p.Ser2503=) c.901T>C c.4961T>C c.1956T>C (p.Ser652=) c.7890T>C (p.Ser2630=) c.896-29926T>C c.2721T>C (p.Ser907=) c.7764T>C (p.Ser2588=) n.1693T>C c.7893T>C (p.Ser2631=)	ClinVar
2	g.73489849T>G	CA427000672	ALMS1	c.7509T>G (p.Ser2503=) c.901T>G c.4961T>G c.1956T>G (p.Ser652=) c.7890T>G (p.Ser2630=) c.896-29926T>G c.2721T>G (p.Ser907=) c.7764T>G (p.Ser2588=) n.1693T>G c.7893T>G (p.Ser2631=)	gnomAD v4
2	g.73489850G>A	CA347266196	ALMS1	c.7510G>A (p.Ala2504Thr) c.902G>A c.4962G>A c.1957G>A (p.Ala653Thr) c.7891G>A (p.Ala2631Thr) c.896-29925G>A c.2722G>A (p.Ala908Thr) c.7765G>A (p.Ala2589Thr) n.1694G>A c.7894G>A (p.Ala2632Thr)
2	g.73489850G>C	CA347266201	ALMS1	c.7510G>C (p.Ala2504Pro) c.902G>C c.4962G>C c.1957G>C (p.Ala653Pro) c.7891G>C (p.Ala2631Pro) c.896-29925G>C c.2722G>C (p.Ala908Pro) c.7765G>C (p.Ala2589Pro) n.1694G>C c.7894G>C (p.Ala2632Pro)
2	g.73489850G>T	CA347266198	ALMS1	c.7510G>T (p.Ala2504Ser) c.902G>T c.4962G>T c.1957G>T (p.Ala653Ser) c.7891G>T (p.Ala2631Ser) c.896-29925G>T c.2722G>T (p.Ala908Ser) c.7765G>T (p.Ala2589Ser) n.1694G>T c.7894G>T (p.Ala2632Ser)	gnomAD v4
2	g.73489851C>A	CA347266205	ALMS1	c.7511C>A (p.Ala2504Glu) c.903C>A c.4963C>A c.1958C>A (p.Ala653Glu) c.7892C>A (p.Ala2631Glu) c.896-29924C>A c.2723C>A (p.Ala908Glu) c.7766C>A (p.Ala2589Glu) n.1695C>A c.7895C>A (p.Ala2632Glu)
2	g.73489851C=	CA1260981194	ALMS1	c.7511C= (p.Ala2504=) c.903C= c.4963C= c.1958C= (p.Ala653=) c.7892C= (p.Ala2631=) c.896-29924C= c.2723C= (p.Ala908=) c.7766C= (p.Ala2589=) n.1695C= c.7895C= (p.Ala2632=)
2	g.73489851C>G	CA347266206	ALMS1	c.7511C>G (p.Ala2504Gly) c.903C>G c.4963C>G c.1958C>G (p.Ala653Gly) c.7892C>G (p.Ala2631Gly) c.896-29924C>G c.2723C>G (p.Ala908Gly) c.7766C>G (p.Ala2589Gly) n.1695C>G c.7895C>G (p.Ala2632Gly)
2	g.73489851C>T	CA50377645	ALMS1	c.7511C>T (p.Ala2504Val) c.903C>T c.4963C>T c.1958C>T (p.Ala653Val) c.7892C>T (p.Ala2631Val) c.896-29924C>T c.2723C>T (p.Ala908Val) c.7766C>T (p.Ala2589Val) n.1695C>T c.7895C>T (p.Ala2632Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489852A>C	CA427000675	ALMS1	c.7512A>C (p.Ala2504=) c.904A>C c.4964A>C c.1959A>C (p.Ala653=) c.7893A>C (p.Ala2631=) c.896-29923A>C c.2724A>C (p.Ala908=) c.7767A>C (p.Ala2589=) n.1696A>C c.7896A>C (p.Ala2632=)	ClinVar dbSNP gnomAD v4
2	g.73489852A>G	CA427000673	ALMS1	c.7512A>G (p.Ala2504=) c.904A>G c.4964A>G c.1959A>G (p.Ala653=) c.7893A>G (p.Ala2631=) c.896-29923A>G c.2724A>G (p.Ala908=) c.7767A>G (p.Ala2589=) n.1696A>G c.7896A>G (p.Ala2632=)
2	g.73489852A>T	CA427000674	ALMS1	c.7512A>T (p.Ala2504=) c.904A>T c.4964A>T c.1959A>T (p.Ala653=) c.7893A>T (p.Ala2631=) c.896-29923A>T c.2724A>T (p.Ala908=) c.7767A>T (p.Ala2589=) n.1696A>T c.7896A>T (p.Ala2632=)	gnomAD v4
2	g.73489853T>A	CA347266208	ALMS1	c.7513T>A (p.Ser2505Thr) c.905T>A c.4965T>A c.1960T>A (p.Ser654Thr) c.7894T>A (p.Ser2632Thr) c.896-29922T>A c.2725T>A (p.Ser909Thr) c.7768T>A (p.Ser2590Thr) n.1697T>A c.7897T>A (p.Ser2633Thr)
2	g.73489853T>C	CA347266210	ALMS1	c.7513T>C (p.Ser2505Pro) c.905T>C c.4965T>C c.1960T>C (p.Ser654Pro) c.7894T>C (p.Ser2632Pro) c.896-29922T>C c.2725T>C (p.Ser909Pro) c.7768T>C (p.Ser2590Pro) n.1697T>C c.7897T>C (p.Ser2633Pro)
2	g.73489853T>G	CA347266213	ALMS1	c.7513T>G (p.Ser2505Ala) c.905T>G c.4965T>G c.1960T>G (p.Ser654Ala) c.7894T>G (p.Ser2632Ala) c.896-29922T>G c.2725T>G (p.Ser909Ala) c.7768T>G (p.Ser2590Ala) n.1697T>G c.7897T>G (p.Ser2633Ala)
2	g.73489854C>A	CA347266214	ALMS1	c.7514C>A (p.Ser2505Tyr) c.906C>A c.4966C>A c.1961C>A (p.Ser654Tyr) c.7895C>A (p.Ser2632Tyr) c.896-29921C>A c.2726C>A (p.Ser909Tyr) c.7769C>A (p.Ser2590Tyr) n.1698C>A c.7898C>A (p.Ser2633Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.73489854C=	CA1260981195	ALMS1	c.7514C= (p.Ser2505=) c.906C= c.4966C= c.1961C= (p.Ser654=) c.7895C= (p.Ser2632=) c.896-29921C= c.2726C= (p.Ser909=) c.7769C= (p.Ser2590=) n.1698C= c.7898C= (p.Ser2633=)
2	g.73489854C>G	CA347266215	ALMS1	c.7514C>G (p.Ser2505Cys) c.906C>G c.4966C>G c.1961C>G (p.Ser654Cys) c.7895C>G (p.Ser2632Cys) c.896-29921C>G c.2726C>G (p.Ser909Cys) c.7769C>G (p.Ser2590Cys) n.1698C>G c.7898C>G (p.Ser2633Cys)	dbSNP gnomAD v2 gnomAD v4
2	g.73489854C>T	CA347266216	ALMS1	c.7514C>T (p.Ser2505Phe) c.906C>T c.4966C>T c.1961C>T (p.Ser654Phe) c.7895C>T (p.Ser2632Phe) c.896-29921C>T c.2726C>T (p.Ser909Phe) c.7769C>T (p.Ser2590Phe) n.1698C>T c.7898C>T (p.Ser2633Phe)
2	g.73489854_73489855insTATAAGCACCTATGAG	CA1260981196	ALMS1	c.7514_7515insTATAAGCACCTATGAG (p.Leu2506IlefsTer33) c.906_907insTATAAGCACCTATGAG c.4966_4967insTATAAGCACCTATGAG c.1961_1962insTATAAGCACCTATGAG (p.Leu655IlefsTer33) c.7895_7896insTATAAGCACCTATGAG (p.Leu2633IlefsTer33) c.896-29921_896-29920insTATAAGCACCTATGAG c.2726_2727insTATAAGCACCTATGAG (p.Leu910IlefsTer33) c.7769_7770insTATAAGCACCTATGAG (p.Leu2591IlefsTer33) n.1698_1699insTATAAGCACCTATGAG c.7898_7899insTATAAGCACCTATGAG (p.Leu2634IlefsTer33)	dbSNP
2	g.73489855C>A	CA427000676	ALMS1	c.7515C>A (p.Ser2505=) c.907C>A c.4967C>A c.1962C>A (p.Ser654=) c.7896C>A (p.Ser2632=) c.896-29920C>A c.2727C>A (p.Ser909=) c.7770C>A (p.Ser2590=) n.1699C>A c.7899C>A (p.Ser2633=)
2	g.73489855C>G	CA427000677	ALMS1	c.7515C>G (p.Ser2505=) c.907C>G c.4967C>G c.1962C>G (p.Ser654=) c.7896C>G (p.Ser2632=) c.896-29920C>G c.2727C>G (p.Ser909=) c.7770C>G (p.Ser2590=) n.1699C>G c.7899C>G (p.Ser2633=)
2	g.73489855C>T	CA427000678	ALMS1	c.7515C>T (p.Ser2505=) c.907C>T c.4967C>T c.1962C>T (p.Ser654=) c.7896C>T (p.Ser2632=) c.896-29920C>T c.2727C>T (p.Ser909=) c.7770C>T (p.Ser2590=) n.1699C>T c.7899C>T (p.Ser2633=)	gnomAD v4
2	g.73489856T>A	CA347266217	ALMS1	c.7516T>A (p.Leu2506Ile) c.908T>A c.4968T>A c.1963T>A (p.Leu655Ile) c.7897T>A (p.Leu2633Ile) c.896-29919T>A c.2728T>A (p.Leu910Ile) c.7771T>A (p.Leu2591Ile) n.1700T>A c.7900T>A (p.Leu2634Ile)
2	g.73489856T>C	CA427000679	ALMS1	c.7516T>C (p.Leu2506=) c.908T>C c.4968T>C c.1963T>C (p.Leu655=) c.7897T>C (p.Leu2633=) c.896-29919T>C c.2728T>C (p.Leu910=) c.7771T>C (p.Leu2591=) n.1700T>C c.7900T>C (p.Leu2634=)
2	g.73489856T>G	CA347266219	ALMS1	c.7516T>G (p.Leu2506Val) c.908T>G c.4968T>G c.1963T>G (p.Leu655Val) c.7897T>G (p.Leu2633Val) c.896-29919T>G c.2728T>G (p.Leu910Val) c.7771T>G (p.Leu2591Val) n.1700T>G c.7900T>G (p.Leu2634Val)
2	g.73489857T>A	CA347266224	ALMS1	c.7517T>A (p.Leu2506Ter) c.909T>A c.4969T>A c.1964T>A (p.Leu655Ter) c.7898T>A (p.Leu2633Ter) c.896-29918T>A c.2729T>A (p.Leu910Ter) c.7772T>A (p.Leu2591Ter) n.1701T>A c.7901T>A (p.Leu2634Ter)	ClinVar
2	g.73489857T>C	CA347266227	ALMS1	c.7517T>C (p.Leu2506Ser) c.909T>C c.4969T>C c.1964T>C (p.Leu655Ser) c.7898T>C (p.Leu2633Ser) c.896-29918T>C c.2729T>C (p.Leu910Ser) c.7772T>C (p.Leu2591Ser) n.1701T>C c.7901T>C (p.Leu2634Ser)	ClinVar dbSNP
2	g.73489857T>G	CA347266221	ALMS1	c.7517T>G (p.Leu2506Ter) c.909T>G c.4969T>G c.1964T>G (p.Leu655Ter) c.7898T>G (p.Leu2633Ter) c.896-29918T>G c.2729T>G (p.Leu910Ter) c.7772T>G (p.Leu2591Ter) n.1701T>G c.7901T>G (p.Leu2634Ter)
2	g.73489858A>C	CA347266232	ALMS1	c.7518A>C (p.Leu2506Phe) c.910A>C c.4970A>C c.1965A>C (p.Leu655Phe) c.7899A>C (p.Leu2633Phe) c.896-29917A>C c.2730A>C (p.Leu910Phe) c.7773A>C (p.Leu2591Phe) n.1702A>C c.7902A>C (p.Leu2634Phe)
2	g.73489858A>G	CA427000680	ALMS1	c.7518A>G (p.Leu2506=) c.910A>G c.4970A>G c.1965A>G (p.Leu655=) c.7899A>G (p.Leu2633=) c.896-29917A>G c.2730A>G (p.Leu910=) c.7773A>G (p.Leu2591=) n.1702A>G c.7902A>G (p.Leu2634=)	gnomAD v4
2	g.73489858A>T	CA347266229	ALMS1	c.7518A>T (p.Leu2506Phe) c.910A>T c.4970A>T c.1965A>T (p.Leu655Phe) c.7899A>T (p.Leu2633Phe) c.896-29917A>T c.2730A>T (p.Leu910Phe) c.7773A>T (p.Leu2591Phe) n.1702A>T c.7902A>T (p.Leu2634Phe)
2	g.73489859G>A	CA347266239	ALMS1	c.7519G>A (p.Asp2507Asn) c.911G>A c.4971G>A c.1966G>A (p.Asp656Asn) c.7900G>A (p.Asp2634Asn) c.896-29916G>A c.2731G>A (p.Asp911Asn) c.7774G>A (p.Asp2592Asn) n.1703G>A c.7903G>A (p.Asp2635Asn)
2	g.73489859G>C	CA347266235	ALMS1	c.7519G>C (p.Asp2507His) c.911G>C c.4971G>C c.1966G>C (p.Asp656His) c.7900G>C (p.Asp2634His) c.896-29916G>C c.2731G>C (p.Asp911His) c.7774G>C (p.Asp2592His) n.1703G>C c.7903G>C (p.Asp2635His)	gnomAD v4
2	g.73489859G=	CA1260981197	ALMS1	c.7519G= (p.Asp2507=) c.911G= c.4971G= c.1966G= (p.Asp656=) c.7900G= (p.Asp2634=) c.896-29916G= c.2731G= (p.Asp911=) c.7774G= (p.Asp2592=) n.1703G= c.7903G= (p.Asp2635=)
2	g.73489859G>T	CA1714366	ALMS1	c.7519G>T (p.Asp2507Tyr) c.911G>T c.4971G>T c.1966G>T (p.Asp656Tyr) c.7900G>T (p.Asp2634Tyr) c.896-29916G>T c.2731G>T (p.Asp911Tyr) c.7774G>T (p.Asp2592Tyr) n.1703G>T c.7903G>T (p.Asp2635Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489860A=	CA1260981198	ALMS1	c.7520A= (p.Asp2507=) c.912A= c.4972A= c.1967A= (p.Asp656=) c.7901A= (p.Asp2634=) c.896-29915A= c.2732A= (p.Asp911=) c.7775A= (p.Asp2592=) n.1704A= c.7904A= (p.Asp2635=)
2	g.73489860A>C	CA347266242	ALMS1	c.7520A>C (p.Asp2507Ala) c.912A>C c.4972A>C c.1967A>C (p.Asp656Ala) c.7901A>C (p.Asp2634Ala) c.896-29915A>C c.2732A>C (p.Asp911Ala) c.7775A>C (p.Asp2592Ala) n.1704A>C c.7904A>C (p.Asp2635Ala)
2	g.73489860A>G	CA347266244	ALMS1	c.7520A>G (p.Asp2507Gly) c.912A>G c.4972A>G c.1967A>G (p.Asp656Gly) c.7901A>G (p.Asp2634Gly) c.896-29915A>G c.2732A>G (p.Asp911Gly) c.7775A>G (p.Asp2592Gly) n.1704A>G c.7904A>G (p.Asp2635Gly)	ClinVar dbSNP gnomAD v4
2	g.73489860A>T	CA347266245	ALMS1	c.7520A>T (p.Asp2507Val) c.912A>T c.4972A>T c.1967A>T (p.Asp656Val) c.7901A>T (p.Asp2634Val) c.896-29915A>T c.2732A>T (p.Asp911Val) c.7775A>T (p.Asp2592Val) n.1704A>T c.7904A>T (p.Asp2635Val)	dbSNP
2	g.73489861C>A	CA347266249	ALMS1	c.7521C>A (p.Asp2507Glu) c.913C>A c.4973C>A c.1968C>A (p.Asp656Glu) c.7902C>A (p.Asp2634Glu) c.896-29914C>A c.2733C>A (p.Asp911Glu) c.7776C>A (p.Asp2592Glu) n.1705C>A c.7905C>A (p.Asp2635Glu)
2	g.73489861C=	CA1260981199	ALMS1	c.7521C= (p.Asp2507=) c.913C= c.4973C= c.1968C= (p.Asp656=) c.7902C= (p.Asp2634=) c.896-29914C= c.2733C= (p.Asp911=) c.7776C= (p.Asp2592=) n.1705C= c.7905C= (p.Asp2635=)
2	g.73489861C>G	CA1714367	ALMS1	c.7521C>G (p.Asp2507Glu) c.913C>G c.4973C>G c.1968C>G (p.Asp656Glu) c.7902C>G (p.Asp2634Glu) c.896-29914C>G c.2733C>G (p.Asp911Glu) c.7776C>G (p.Asp2592Glu) n.1705C>G c.7905C>G (p.Asp2635Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489861C>T	CA1714368	ALMS1	c.7521C>T (p.Asp2507=) c.913C>T c.4973C>T c.1968C>T (p.Asp656=) c.7902C>T (p.Asp2634=) c.896-29914C>T c.2733C>T (p.Asp911=) c.7776C>T (p.Asp2592=) n.1705C>T c.7905C>T (p.Asp2635=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489862C>A	CA347266257	ALMS1	c.7522C>A (p.Gln2508Lys) c.914C>A c.4974C>A c.1969C>A (p.Gln657Lys) c.7903C>A (p.Gln2635Lys) c.896-29913C>A c.2734C>A (p.Gln912Lys) c.7777C>A (p.Gln2593Lys) n.1706C>A c.7906C>A (p.Gln2636Lys)
2	g.73489862C>G	CA347266259	ALMS1	c.7522C>G (p.Gln2508Glu) c.914C>G c.4974C>G c.1969C>G (p.Gln657Glu) c.7903C>G (p.Gln2635Glu) c.896-29913C>G c.2734C>G (p.Gln912Glu) c.7777C>G (p.Gln2593Glu) n.1706C>G c.7906C>G (p.Gln2636Glu)	gnomAD v4
2	g.73489862C>T	CA347266262	ALMS1	c.7522C>T (p.Gln2508Ter) c.914C>T c.4974C>T c.1969C>T (p.Gln657Ter) c.7903C>T (p.Gln2635Ter) c.896-29913C>T c.2734C>T (p.Gln912Ter) c.7777C>T (p.Gln2593Ter) n.1706C>T c.7906C>T (p.Gln2636Ter)
2	g.73489863A>C	CA347266264	ALMS1	c.7523A>C (p.Gln2508Pro) c.915A>C c.4975A>C c.1970A>C (p.Gln657Pro) c.7904A>C (p.Gln2635Pro) c.896-29912A>C c.2735A>C (p.Gln912Pro) c.7778A>C (p.Gln2593Pro) n.1707A>C c.7907A>C (p.Gln2636Pro)	gnomAD v4
2	g.73489863A>G	CA347266267	ALMS1	c.7523A>G (p.Gln2508Arg) c.915A>G c.4975A>G c.1970A>G (p.Gln657Arg) c.7904A>G (p.Gln2635Arg) c.896-29912A>G c.2735A>G (p.Gln912Arg) c.7778A>G (p.Gln2593Arg) n.1707A>G c.7907A>G (p.Gln2636Arg)	ClinVar
2	g.73489863A>T	CA347266270	ALMS1	c.7523A>T (p.Gln2508Leu) c.915A>T c.4975A>T c.1970A>T (p.Gln657Leu) c.7904A>T (p.Gln2635Leu) c.896-29912A>T c.2735A>T (p.Gln912Leu) c.7778A>T (p.Gln2593Leu) n.1707A>T c.7907A>T (p.Gln2636Leu)
2	g.73489864G>A	CA427000681	ALMS1	c.7524G>A (p.Gln2508=) c.916G>A c.4976G>A c.1971G>A (p.Gln657=) c.7905G>A (p.Gln2635=) c.896-29911G>A c.2736G>A (p.Gln912=) c.7779G>A (p.Gln2593=) n.1708G>A c.7908G>A (p.Gln2636=)
2	g.73489864G>C	CA347266274	ALMS1	c.7524G>C (p.Gln2508His) c.916G>C c.4976G>C c.1971G>C (p.Gln657His) c.7905G>C (p.Gln2635His) c.896-29911G>C c.2736G>C (p.Gln912His) c.7779G>C (p.Gln2593His) n.1708G>C c.7908G>C (p.Gln2636His)
2	g.73489864G>T	CA347266275	ALMS1	c.7524G>T (p.Gln2508His) c.916G>T c.4976G>T c.1971G>T (p.Gln657His) c.7905G>T (p.Gln2635His) c.896-29911G>T c.2736G>T (p.Gln912His) c.7779G>T (p.Gln2593His) n.1708G>T c.7908G>T (p.Gln2636His)
2	g.73489865A>C	CA347266279	ALMS1	c.7525A>C (p.Asn2509His) c.917A>C c.4977A>C c.1972A>C (p.Asn658His) c.7906A>C (p.Asn2636His) c.896-29910A>C c.2737A>C (p.Asn913His) c.7780A>C (p.Asn2594His) n.1709A>C c.7909A>C (p.Asn2637His)
2	g.73489865A>G	CA347266282	ALMS1	c.7525A>G (p.Asn2509Asp) c.917A>G c.4977A>G c.1972A>G (p.Asn658Asp) c.7906A>G (p.Asn2636Asp) c.896-29910A>G c.2737A>G (p.Asn913Asp) c.7780A>G (p.Asn2594Asp) n.1709A>G c.7909A>G (p.Asn2637Asp)
2	g.73489865A>T	CA347266284	ALMS1	c.7525A>T (p.Asn2509Tyr) c.917A>T c.4977A>T c.1972A>T (p.Asn658Tyr) c.7906A>T (p.Asn2636Tyr) c.896-29910A>T c.2737A>T (p.Asn913Tyr) c.7780A>T (p.Asn2594Tyr) n.1709A>T c.7909A>T (p.Asn2637Tyr)
2	g.73489868_73489870del	CA2750465613	ALMS1	c.7528_7530del (p.Asn2510del) c.920_922del c.4980_4982del c.1975_1977del (p.Asn659del) c.7909_7911del (p.Asn2637del) c.896-29907_896-29905del c.2740_2742del (p.Asn914del) c.7783_7785del (p.Asn2595del) n.1712_1714del c.7912_7914del (p.Asn2638del)
2	g.73489866A=	CA1260981200	ALMS1	c.7526A= (p.Asn2509=) c.918A= c.4978A= c.1973A= (p.Asn658=) c.7907A= (p.Asn2636=) c.896-29909A= c.2738A= (p.Asn913=) c.7781A= (p.Asn2594=) n.1710A= c.7910A= (p.Asn2637=)
2	g.73489866A>C	CA1714369	ALMS1	c.7526A>C (p.Asn2509Thr) c.918A>C c.4978A>C c.1973A>C (p.Asn658Thr) c.7907A>C (p.Asn2636Thr) c.896-29909A>C c.2738A>C (p.Asn913Thr) c.7781A>C (p.Asn2594Thr) n.1710A>C c.7910A>C (p.Asn2637Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489866A>G	CA347266285	ALMS1	c.7526A>G (p.Asn2509Ser) c.918A>G c.4978A>G c.1973A>G (p.Asn658Ser) c.7907A>G (p.Asn2636Ser) c.896-29909A>G c.2738A>G (p.Asn913Ser) c.7781A>G (p.Asn2594Ser) n.1710A>G c.7910A>G (p.Asn2637Ser)	dbSNP gnomAD v4
2	g.73489866A>T	CA347266286	ALMS1	c.7526A>T (p.Asn2509Ile) c.918A>T c.4978A>T c.1973A>T (p.Asn658Ile) c.7907A>T (p.Asn2636Ile) c.896-29909A>T c.2738A>T (p.Asn913Ile) c.7781A>T (p.Asn2594Ile) n.1710A>T c.7910A>T (p.Asn2637Ile)
2	g.73489867C>A	CA347266287	ALMS1	c.7527C>A (p.Asn2509Lys) c.919C>A c.4979C>A c.1974C>A (p.Asn658Lys) c.7908C>A (p.Asn2636Lys) c.896-29908C>A c.2739C>A (p.Asn913Lys) c.7782C>A (p.Asn2594Lys) n.1711C>A c.7911C>A (p.Asn2637Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.73489867C=	CA1260981201	ALMS1	c.7527C= (p.Asn2509=) c.919C= c.4979C= c.1974C= (p.Asn658=) c.7908C= (p.Asn2636=) c.896-29908C= c.2739C= (p.Asn913=) c.7782C= (p.Asn2594=) n.1711C= c.7911C= (p.Asn2637=)
2	g.73489867C>G	CA347266288	ALMS1	c.7527C>G (p.Asn2509Lys) c.919C>G c.4979C>G c.1974C>G (p.Asn658Lys) c.7908C>G (p.Asn2636Lys) c.896-29908C>G c.2739C>G (p.Asn913Lys) c.7782C>G (p.Asn2594Lys) n.1711C>G c.7911C>G (p.Asn2637Lys)	gnomAD v4
2	g.73489867C>T	CA427000682	ALMS1	c.7527C>T (p.Asn2509=) c.919C>T c.4979C>T c.1974C>T (p.Asn658=) c.7908C>T (p.Asn2636=) c.896-29908C>T c.2739C>T (p.Asn913=) c.7782C>T (p.Asn2594=) n.1711C>T c.7911C>T (p.Asn2637=)	ClinVar
2	g.73489867dup	CA2586969427	ALMS1	c.7527dup (p.Asn2510GlnfsTer24) c.919dup c.4979dup c.1974dup (p.Asn659GlnfsTer24) c.7908dup (p.Asn2637GlnfsTer24) c.896-29908dup c.2739dup (p.Asn914GlnfsTer24) c.7782dup (p.Asn2595GlnfsTer24) n.1711dup c.7911dup (p.Asn2638GlnfsTer24)
2	g.73489868A>C	CA347266289	ALMS1	c.7528A>C (p.Asn2510His) c.920A>C c.4980A>C c.1975A>C (p.Asn659His) c.7909A>C (p.Asn2637His) c.896-29907A>C c.2740A>C (p.Asn914His) c.7783A>C (p.Asn2595His) n.1712A>C c.7912A>C (p.Asn2638His)	gnomAD v4
2	g.73489868A>G	CA347266291	ALMS1	c.7528A>G (p.Asn2510Asp) c.920A>G c.4980A>G c.1975A>G (p.Asn659Asp) c.7909A>G (p.Asn2637Asp) c.896-29907A>G c.2740A>G (p.Asn914Asp) c.7783A>G (p.Asn2595Asp) n.1712A>G c.7912A>G (p.Asn2638Asp)
2	g.73489868A>T	CA347266294	ALMS1	c.7528A>T (p.Asn2510Tyr) c.920A>T c.4980A>T c.1975A>T (p.Asn659Tyr) c.7909A>T (p.Asn2637Tyr) c.896-29907A>T c.2740A>T (p.Asn914Tyr) c.7783A>T (p.Asn2595Tyr) n.1712A>T c.7912A>T (p.Asn2638Tyr)
2	g.73489869A>C	CA347266301	ALMS1	c.7529A>C (p.Asn2510Thr) c.921A>C c.4981A>C c.1976A>C (p.Asn659Thr) c.7910A>C (p.Asn2637Thr) c.896-29906A>C c.2741A>C (p.Asn914Thr) c.7784A>C (p.Asn2595Thr) n.1713A>C c.7913A>C (p.Asn2638Thr)
2	g.73489869A>G	CA347266300	ALMS1	c.7529A>G (p.Asn2510Ser) c.921A>G c.4981A>G c.1976A>G (p.Asn659Ser) c.7910A>G (p.Asn2637Ser) c.896-29906A>G c.2741A>G (p.Asn914Ser) c.7784A>G (p.Asn2595Ser) n.1713A>G c.7913A>G (p.Asn2638Ser)
2	g.73489869A>T	CA347266299	ALMS1	c.7529A>T (p.Asn2510Ile) c.921A>T c.4981A>T c.1976A>T (p.Asn659Ile) c.7910A>T (p.Asn2637Ile) c.896-29906A>T c.2741A>T (p.Asn914Ile) c.7784A>T (p.Asn2595Ile) n.1713A>T c.7913A>T (p.Asn2638Ile)
2	g.73489870C>A	CA347266303	ALMS1	c.7530C>A (p.Asn2510Lys) c.922C>A c.4982C>A c.1977C>A (p.Asn659Lys) c.7911C>A (p.Asn2637Lys) c.896-29905C>A c.2742C>A (p.Asn914Lys) c.7785C>A (p.Asn2595Lys) n.1714C>A c.7914C>A (p.Asn2638Lys)
2	g.73489870C=	CA1260981202	ALMS1	c.7530C= (p.Asn2510=) c.922C= c.4982C= c.1977C= (p.Asn659=) c.7911C= (p.Asn2637=) c.896-29905C= c.2742C= (p.Asn914=) c.7785C= (p.Asn2595=) n.1714C= c.7914C= (p.Asn2638=)
2	g.73489870C>G	CA1714371	ALMS1	c.7530C>G (p.Asn2510Lys) c.922C>G c.4982C>G c.1977C>G (p.Asn659Lys) c.7911C>G (p.Asn2637Lys) c.896-29905C>G c.2742C>G (p.Asn914Lys) c.7785C>G (p.Asn2595Lys) n.1714C>G c.7914C>G (p.Asn2638Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489870C>T	CA1714370	ALMS1	c.7530C>T (p.Asn2510=) c.922C>T c.4982C>T c.1977C>T (p.Asn659=) c.7911C>T (p.Asn2637=) c.896-29905C>T c.2742C>T (p.Asn914=) c.7785C>T (p.Asn2595=) n.1714C>T c.7914C>T (p.Asn2638=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489871T>A	CA1714372	ALMS1	c.7531T>A (p.Ser2511Thr) c.923T>A c.4983T>A c.1978T>A (p.Ser660Thr) c.7912T>A (p.Ser2638Thr) c.896-29904T>A c.2743T>A (p.Ser915Thr) c.7786T>A (p.Ser2596Thr) n.1715T>A c.7915T>A (p.Ser2639Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489871T>C	CA347266311	ALMS1	c.7531T>C (p.Ser2511Pro) c.923T>C c.4983T>C c.1978T>C (p.Ser660Pro) c.7912T>C (p.Ser2638Pro) c.896-29904T>C c.2743T>C (p.Ser915Pro) c.7786T>C (p.Ser2596Pro) n.1715T>C c.7915T>C (p.Ser2639Pro)
2	g.73489871T>G	CA347266313	ALMS1	c.7531T>G (p.Ser2511Ala) c.923T>G c.4983T>G c.1978T>G (p.Ser660Ala) c.7912T>G (p.Ser2638Ala) c.896-29904T>G c.2743T>G (p.Ser915Ala) c.7786T>G (p.Ser2596Ala) n.1715T>G c.7915T>G (p.Ser2639Ala)
2	g.73489871T=	CA1260981203	ALMS1	c.7531T= (p.Ser2511=) c.923T= c.4983T= c.1978T= (p.Ser660=) c.7912T= (p.Ser2638=) c.896-29904T= c.2743T= (p.Ser915=) c.7786T= (p.Ser2596=) n.1715T= c.7915T= (p.Ser2639=)
2	g.73489872C>A	CA1714373	ALMS1	c.7532C>A (p.Ser2511Tyr) c.924C>A c.4984C>A c.1979C>A (p.Ser660Tyr) c.7913C>A (p.Ser2638Tyr) c.896-29903C>A c.2744C>A (p.Ser915Tyr) c.7787C>A (p.Ser2596Tyr) n.1716C>A c.7916C>A (p.Ser2639Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489872C=	CA1260981204	ALMS1	c.7532C= (p.Ser2511=) c.924C= c.4984C= c.1979C= (p.Ser660=) c.7913C= (p.Ser2638=) c.896-29903C= c.2744C= (p.Ser915=) c.7787C= (p.Ser2596=) n.1716C= c.7916C= (p.Ser2639=)
2	g.73489872C>G	CA347266317	ALMS1	c.7532C>G (p.Ser2511Cys) c.924C>G c.4984C>G c.1979C>G (p.Ser660Cys) c.7913C>G (p.Ser2638Cys) c.896-29903C>G c.2744C>G (p.Ser915Cys) c.7787C>G (p.Ser2596Cys) n.1716C>G c.7916C>G (p.Ser2639Cys)
2	g.73489872C>T	CA347266320	ALMS1	c.7532C>T (p.Ser2511Phe) c.924C>T c.4984C>T c.1979C>T (p.Ser660Phe) c.7913C>T (p.Ser2638Phe) c.896-29903C>T c.2744C>T (p.Ser915Phe) c.7787C>T (p.Ser2596Phe) n.1716C>T c.7916C>T (p.Ser2639Phe)
2	g.73489873C>A	CA427000685	ALMS1	c.7533C>A (p.Ser2511=) c.925C>A c.4985C>A c.1980C>A (p.Ser660=) c.7914C>A (p.Ser2638=) c.896-29902C>A c.2745C>A (p.Ser915=) c.7788C>A (p.Ser2596=) n.1717C>A c.7917C>A (p.Ser2639=)
2	g.73489873C>G	CA427000683	ALMS1	c.7533C>G (p.Ser2511=) c.925C>G c.4985C>G c.1980C>G (p.Ser660=) c.7914C>G (p.Ser2638=) c.896-29902C>G c.2745C>G (p.Ser915=) c.7788C>G (p.Ser2596=) n.1717C>G c.7917C>G (p.Ser2639=)
2	g.73489873C>T	CA427000684	ALMS1	c.7533C>T (p.Ser2511=) c.925C>T c.4985C>T c.1980C>T (p.Ser660=) c.7914C>T (p.Ser2638=) c.896-29902C>T c.2745C>T (p.Ser915=) c.7788C>T (p.Ser2596=) n.1717C>T c.7917C>T (p.Ser2639=)	gnomAD v4
2	g.73489874C>A	CA347266323	ALMS1	c.7534C>A (p.His2512Asn) c.926C>A c.4986C>A c.1981C>A (p.His661Asn) c.7915C>A (p.His2639Asn) c.896-29901C>A c.2746C>A (p.His916Asn) c.7789C>A (p.His2597Asn) n.1718C>A c.7918C>A (p.His2640Asn)
2	g.73489874C>G	CA347266327	ALMS1	c.7534C>G (p.His2512Asp) c.926C>G c.4986C>G c.1981C>G (p.His661Asp) c.7915C>G (p.His2639Asp) c.896-29901C>G c.2746C>G (p.His916Asp) c.7789C>G (p.His2597Asp) n.1718C>G c.7918C>G (p.His2640Asp)
2	g.73489874C>T	CA347266330	ALMS1	c.7534C>T (p.His2512Tyr) c.926C>T c.4986C>T c.1981C>T (p.His661Tyr) c.7915C>T (p.His2639Tyr) c.896-29901C>T c.2746C>T (p.His916Tyr) c.7789C>T (p.His2597Tyr) n.1718C>T c.7918C>T (p.His2640Tyr)
2	g.73489875A>C	CA347266339	ALMS1	c.7535A>C (p.His2512Pro) c.927A>C c.4987A>C c.1982A>C (p.His661Pro) c.7916A>C (p.His2639Pro) c.896-29900A>C c.2747A>C (p.His916Pro) c.7790A>C (p.His2597Pro) n.1719A>C c.7919A>C (p.His2640Pro)
2	g.73489875A>G	CA347266336	ALMS1	c.7535A>G (p.His2512Arg) c.927A>G c.4987A>G c.1982A>G (p.His661Arg) c.7916A>G (p.His2639Arg) c.896-29900A>G c.2747A>G (p.His916Arg) c.7790A>G (p.His2597Arg) n.1719A>G c.7919A>G (p.His2640Arg)	gnomAD v4
2	g.73489875A>T	CA347266334	ALMS1	c.7535A>T (p.His2512Leu) c.927A>T c.4987A>T c.1982A>T (p.His661Leu) c.7916A>T (p.His2639Leu) c.896-29900A>T c.2747A>T (p.His916Leu) c.7790A>T (p.His2597Leu) n.1719A>T c.7919A>T (p.His2640Leu)
2	g.73489876T>A	CA347266341	ALMS1	c.7536T>A (p.His2512Gln) c.928T>A c.4988T>A c.1983T>A (p.His661Gln) c.7917T>A (p.His2639Gln) c.896-29899T>A c.2748T>A (p.His916Gln) c.7791T>A (p.His2597Gln) n.1720T>A c.7920T>A (p.His2640Gln)
2	g.73489876T>C	CA427000686	ALMS1	c.7536T>C (p.His2512=) c.928T>C c.4988T>C c.1983T>C (p.His661=) c.7917T>C (p.His2639=) c.896-29899T>C c.2748T>C (p.His916=) c.7791T>C (p.His2597=) n.1720T>C c.7920T>C (p.His2640=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73489876T>G	CA347266343	ALMS1	c.7536T>G (p.His2512Gln) c.928T>G c.4988T>G c.1983T>G (p.His661Gln) c.7917T>G (p.His2639Gln) c.896-29899T>G c.2748T>G (p.His916Gln) c.7791T>G (p.His2597Gln) n.1720T>G c.7920T>G (p.His2640Gln)
2	g.73489876T=	CA1260981205	ALMS1	c.7536T= (p.His2512=) c.928T= c.4988T= c.1983T= (p.His661=) c.7917T= (p.His2639=) c.896-29899T= c.2748T= (p.His916=) c.7791T= (p.His2597=) n.1720T= c.7920T= (p.His2640=)
2	g.73489877T>A	CA347266346	ALMS1	c.7537T>A (p.Phe2513Ile) c.929T>A c.4989T>A c.1984T>A (p.Phe662Ile) c.7918T>A (p.Phe2640Ile) c.896-29898T>A c.2749T>A (p.Phe917Ile) c.7792T>A (p.Phe2598Ile) n.1721T>A c.7921T>A (p.Phe2641Ile)
2	g.73489877T>C	CA347266349	ALMS1	c.7537T>C (p.Phe2513Leu) c.929T>C c.4989T>C c.1984T>C (p.Phe662Leu) c.7918T>C (p.Phe2640Leu) c.896-29898T>C c.2749T>C (p.Phe917Leu) c.7792T>C (p.Phe2598Leu) n.1721T>C c.7921T>C (p.Phe2641Leu)
2	g.73489877T>G	CA347266352	ALMS1	c.7537T>G (p.Phe2513Val) c.929T>G c.4989T>G c.1984T>G (p.Phe662Val) c.7918T>G (p.Phe2640Val) c.896-29898T>G c.2749T>G (p.Phe917Val) c.7792T>G (p.Phe2598Val) n.1721T>G c.7921T>G (p.Phe2641Val)
2	g.73489878T>A	CA347266354	ALMS1	c.7538T>A (p.Phe2513Tyr) c.930T>A c.4990T>A c.1985T>A (p.Phe662Tyr) c.7919T>A (p.Phe2640Tyr) c.896-29897T>A c.2750T>A (p.Phe917Tyr) c.7793T>A (p.Phe2598Tyr) n.1722T>A c.7922T>A (p.Phe2641Tyr)
2	g.73489878T>C	CA347266356	ALMS1	c.7538T>C (p.Phe2513Ser) c.930T>C c.4990T>C c.1985T>C (p.Phe662Ser) c.7919T>C (p.Phe2640Ser) c.896-29897T>C c.2750T>C (p.Phe917Ser) c.7793T>C (p.Phe2598Ser) n.1722T>C c.7922T>C (p.Phe2641Ser)
2	g.73489878T>G	CA347266358	ALMS1	c.7538T>G (p.Phe2513Cys) c.930T>G c.4990T>G c.1985T>G (p.Phe662Cys) c.7919T>G (p.Phe2640Cys) c.896-29897T>G c.2750T>G (p.Phe917Cys) c.7793T>G (p.Phe2598Cys) n.1722T>G c.7922T>G (p.Phe2641Cys)
2	g.73489879C>A	CA347266361	ALMS1	c.7539C>A (p.Phe2513Leu) c.931C>A c.4991C>A c.1986C>A (p.Phe662Leu) c.7920C>A (p.Phe2640Leu) c.896-29896C>A c.2751C>A (p.Phe917Leu) c.7794C>A (p.Phe2598Leu) n.1723C>A c.7923C>A (p.Phe2641Leu)
2	g.73489879C>G	CA347266363	ALMS1	c.7539C>G (p.Phe2513Leu) c.931C>G c.4991C>G c.1986C>G (p.Phe662Leu) c.7920C>G (p.Phe2640Leu) c.896-29896C>G c.2751C>G (p.Phe917Leu) c.7794C>G (p.Phe2598Leu) n.1723C>G c.7923C>G (p.Phe2641Leu)	gnomAD v4
2	g.73489879C>T	CA427000687	ALMS1	c.7539C>T (p.Phe2513=) c.931C>T c.4991C>T c.1986C>T (p.Phe662=) c.7920C>T (p.Phe2640=) c.896-29896C>T c.2751C>T (p.Phe917=) c.7794C>T (p.Phe2598=) n.1723C>T c.7923C>T (p.Phe2641=)
2	g.73489880A>C	CA347266366	ALMS1	c.7540A>C (p.Lys2514Gln) c.932A>C c.4992A>C c.1987A>C (p.Lys663Gln) c.7921A>C (p.Lys2641Gln) c.896-29895A>C c.2752A>C (p.Lys918Gln) c.7795A>C (p.Lys2599Gln) n.1724A>C c.7924A>C (p.Lys2642Gln)
2	g.73489880A>G	CA347266369	ALMS1	c.7540A>G (p.Lys2514Glu) c.932A>G c.4992A>G c.1987A>G (p.Lys663Glu) c.7921A>G (p.Lys2641Glu) c.896-29895A>G c.2752A>G (p.Lys918Glu) c.7795A>G (p.Lys2599Glu) n.1724A>G c.7924A>G (p.Lys2642Glu)
2	g.73489880A>T	CA347266372	ALMS1	c.7540A>T (p.Lys2514Ter) c.932A>T c.4992A>T c.1987A>T (p.Lys663Ter) c.7921A>T (p.Lys2641Ter) c.896-29895A>T c.2752A>T (p.Lys918Ter) c.7795A>T (p.Lys2599Ter) n.1724A>T c.7924A>T (p.Lys2642Ter)
2	g.73489881A>C	CA347266378	ALMS1	c.7541A>C (p.Lys2514Thr) c.933A>C c.4993A>C c.1988A>C (p.Lys663Thr) c.7922A>C (p.Lys2641Thr) c.896-29894A>C c.2753A>C (p.Lys918Thr) c.7796A>C (p.Lys2599Thr) n.1725A>C c.7925A>C (p.Lys2642Thr)
2	g.73489881A>G	CA347266375	ALMS1	c.7541A>G (p.Lys2514Arg) c.933A>G c.4993A>G c.1988A>G (p.Lys663Arg) c.7922A>G (p.Lys2641Arg) c.896-29894A>G c.2753A>G (p.Lys918Arg) c.7796A>G (p.Lys2599Arg) n.1725A>G c.7925A>G (p.Lys2642Arg)
2	g.73489881A>T	CA347266374	ALMS1	c.7541A>T (p.Lys2514Ile) c.933A>T c.4993A>T c.1988A>T (p.Lys663Ile) c.7922A>T (p.Lys2641Ile) c.896-29894A>T c.2753A>T (p.Lys918Ile) c.7796A>T (p.Lys2599Ile) n.1725A>T c.7925A>T (p.Lys2642Ile)
2	g.73489882A=	CA1260981206	ALMS1	c.7542A= (p.Lys2514=) c.934A= c.4994A= c.1989A= (p.Lys663=) c.7923A= (p.Lys2641=) c.896-29893A= c.2754A= (p.Lys918=) c.7797A= (p.Lys2599=) n.1726A= c.7926A= (p.Lys2642=)
2	g.73489882A>C	CA1714374	ALMS1	c.7542A>C (p.Lys2514Asn) c.934A>C c.4994A>C c.1989A>C (p.Lys663Asn) c.7923A>C (p.Lys2641Asn) c.896-29893A>C c.2754A>C (p.Lys918Asn) c.7797A>C (p.Lys2599Asn) n.1726A>C c.7926A>C (p.Lys2642Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489882A>G	CA427000689	ALMS1	c.7542A>G (p.Lys2514=) c.934A>G c.4994A>G c.1989A>G (p.Lys663=) c.7923A>G (p.Lys2641=) c.896-29893A>G c.2754A>G (p.Lys918=) c.7797A>G (p.Lys2599=) n.1726A>G c.7926A>G (p.Lys2642=)	gnomAD v4
2	g.73489882A>T	CA347266381	ALMS1	c.7542A>T (p.Lys2514Asn) c.934A>T c.4994A>T c.1989A>T (p.Lys663Asn) c.7923A>T (p.Lys2641Asn) c.896-29893A>T c.2754A>T (p.Lys918Asn) c.7797A>T (p.Lys2599Asn) n.1726A>T c.7926A>T (p.Lys2642Asn)
2	g.73489883G>A	CA1714375	ALMS1	c.7543G>A (p.Val2515Ile) c.935G>A c.4995G>A c.1990G>A (p.Val664Ile) c.7924G>A (p.Val2642Ile) c.896-29892G>A c.2755G>A (p.Val919Ile) c.7798G>A (p.Val2600Ile) n.1727G>A c.7927G>A (p.Val2643Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489883G>C	CA347266386	ALMS1	c.7543G>C (p.Val2515Leu) c.935G>C c.4995G>C c.1990G>C (p.Val664Leu) c.7924G>C (p.Val2642Leu) c.896-29892G>C c.2755G>C (p.Val919Leu) c.7798G>C (p.Val2600Leu) n.1727G>C c.7927G>C (p.Val2643Leu)
2	g.73489883G=	CA1260981207	ALMS1	c.7543G= (p.Val2515=) c.935G= c.4995G= c.1990G= (p.Val664=) c.7924G= (p.Val2642=) c.896-29892G= c.2755G= (p.Val919=) c.7798G= (p.Val2600=) n.1727G= c.7927G= (p.Val2643=)
2	g.73489883G>T	CA347266388	ALMS1	c.7543G>T (p.Val2515Phe) c.935G>T c.4995G>T c.1990G>T (p.Val664Phe) c.7924G>T (p.Val2642Phe) c.896-29892G>T c.2755G>T (p.Val919Phe) c.7798G>T (p.Val2600Phe) n.1727G>T c.7927G>T (p.Val2643Phe)
2	g.73489884T>A	CA347266394	ALMS1	c.7544T>A (p.Val2515Asp) c.936T>A c.4996T>A c.1991T>A (p.Val664Asp) c.7925T>A (p.Val2642Asp) c.896-29891T>A c.2756T>A (p.Val919Asp) c.7799T>A (p.Val2600Asp) n.1728T>A c.7928T>A (p.Val2643Asp)
2	g.73489884T>C	CA347266396	ALMS1	c.7544T>C (p.Val2515Ala) c.936T>C c.4996T>C c.1991T>C (p.Val664Ala) c.7925T>C (p.Val2642Ala) c.896-29891T>C c.2756T>C (p.Val919Ala) c.7799T>C (p.Val2600Ala) n.1728T>C c.7928T>C (p.Val2643Ala)
2	g.73489884T>G	CA347266398	ALMS1	c.7544T>G (p.Val2515Gly) c.936T>G c.4996T>G c.1991T>G (p.Val664Gly) c.7925T>G (p.Val2642Gly) c.896-29891T>G c.2756T>G (p.Val919Gly) c.7799T>G (p.Val2600Gly) n.1728T>G c.7928T>G (p.Val2643Gly)
2	g.73489885T>A	CA427000690	ALMS1	c.7545T>A (p.Val2515=) c.937T>A c.4997T>A c.1992T>A (p.Val664=) c.7926T>A (p.Val2642=) c.896-29890T>A c.2757T>A (p.Val919=) c.7800T>A (p.Val2600=) n.1729T>A c.7929T>A (p.Val2643=)	ClinVar dbSNP
2	g.73489885T>C	CA1714376	ALMS1	c.7545T>C (p.Val2515=) c.937T>C c.4997T>C c.1992T>C (p.Val664=) c.7926T>C (p.Val2642=) c.896-29890T>C c.2757T>C (p.Val919=) c.7800T>C (p.Val2600=) n.1729T>C c.7929T>C (p.Val2643=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489885T>G	CA427000691	ALMS1	c.7545T>G (p.Val2515=) c.937T>G c.4997T>G c.1992T>G (p.Val664=) c.7926T>G (p.Val2642=) c.896-29890T>G c.2757T>G (p.Val919=) c.7800T>G (p.Val2600=) n.1729T>G c.7929T>G (p.Val2643=)
2	g.73489885T=	CA1260981208	ALMS1	c.7545T= (p.Val2515=) c.937T= c.4997T= c.1992T= (p.Val664=) c.7926T= (p.Val2642=) c.896-29890T= c.2757T= (p.Val919=) c.7800T= (p.Val2600=) n.1729T= c.7929T= (p.Val2643=)
2	g.73489886T>A	CA347266399	ALMS1	c.7546T>A (p.Trp2516Arg) c.938T>A c.4998T>A c.1993T>A (p.Trp665Arg) c.7927T>A (p.Trp2643Arg) c.896-29889T>A c.2758T>A (p.Trp920Arg) c.7801T>A (p.Trp2601Arg) n.1730T>A c.7930T>A (p.Trp2644Arg)
2	g.73489886T>C	CA347266400	ALMS1	c.7546T>C (p.Trp2516Arg) c.938T>C c.4998T>C c.1993T>C (p.Trp665Arg) c.7927T>C (p.Trp2643Arg) c.896-29889T>C c.2758T>C (p.Trp920Arg) c.7801T>C (p.Trp2601Arg) n.1730T>C c.7930T>C (p.Trp2644Arg)	ClinVar dbSNP
2	g.73489886T>G	CA347266401	ALMS1	c.7546T>G (p.Trp2516Gly) c.938T>G c.4998T>G c.1993T>G (p.Trp665Gly) c.7927T>G (p.Trp2643Gly) c.896-29889T>G c.2758T>G (p.Trp920Gly) c.7801T>G (p.Trp2601Gly) n.1730T>G c.7930T>G (p.Trp2644Gly)
2	g.73489886T=	CA1260981209	ALMS1	c.7546T= (p.Trp2516=) c.938T= c.4998T= c.1993T= (p.Trp665=) c.7927T= (p.Trp2643=) c.896-29889T= c.2758T= (p.Trp920=) c.7801T= (p.Trp2601=) n.1730T= c.7930T= (p.Trp2644=)
2	g.73489887G>A	CA347266402	ALMS1	c.7547G>A (p.Trp2516Ter) c.939G>A c.4999G>A c.1994G>A (p.Trp665Ter) c.7928G>A (p.Trp2643Ter) c.896-29888G>A c.2759G>A (p.Trp920Ter) c.7802G>A (p.Trp2601Ter) n.1731G>A c.7931G>A (p.Trp2644Ter)
2	g.73489887G>C	CA347266404	ALMS1	c.7547G>C (p.Trp2516Ser) c.939G>C c.4999G>C c.1994G>C (p.Trp665Ser) c.7928G>C (p.Trp2643Ser) c.896-29888G>C c.2759G>C (p.Trp920Ser) c.7802G>C (p.Trp2601Ser) n.1731G>C c.7931G>C (p.Trp2644Ser)
2	g.73489887G>T	CA347266407	ALMS1	c.7547G>T (p.Trp2516Leu) c.939G>T c.4999G>T c.1994G>T (p.Trp665Leu) c.7928G>T (p.Trp2643Leu) c.896-29888G>T c.2759G>T (p.Trp920Leu) c.7802G>T (p.Trp2601Leu) n.1731G>T c.7931G>T (p.Trp2644Leu)	gnomAD v4
2	g.73489888G>A	CA347266412	ALMS1	c.7548G>A (p.Trp2516Ter) c.940G>A c.5000G>A c.1995G>A (p.Trp665Ter) c.7929G>A (p.Trp2643Ter) c.896-29887G>A c.2760G>A (p.Trp920Ter) c.7803G>A (p.Trp2601Ter) n.1732G>A c.7932G>A (p.Trp2644Ter)
2	g.73489888G>C	CA347266409	ALMS1	c.7548G>C (p.Trp2516Cys) c.940G>C c.5000G>C c.1995G>C (p.Trp665Cys) c.7929G>C (p.Trp2643Cys) c.896-29887G>C c.2760G>C (p.Trp920Cys) c.7803G>C (p.Trp2601Cys) n.1732G>C c.7932G>C (p.Trp2644Cys)
2	g.73489888G>T	CA347266410	ALMS1	c.7548G>T (p.Trp2516Cys) c.940G>T c.5000G>T c.1995G>T (p.Trp665Cys) c.7929G>T (p.Trp2643Cys) c.896-29887G>T c.2760G>T (p.Trp920Cys) c.7803G>T (p.Trp2601Cys) n.1732G>T c.7932G>T (p.Trp2644Cys)	gnomAD v4
2	g.73489889A=	CA1260981210	ALMS1	c.7549A= (p.Asn2517=) c.941A= c.5001A= c.1996A= (p.Asn666=) c.7930A= (p.Asn2644=) c.896-29886A= c.2761A= (p.Asn921=) c.7804A= (p.Asn2602=) n.1733A= c.7933A= (p.Asn2645=)
2	g.73489889A>C	CA1714377	ALMS1	c.7549A>C (p.Asn2517His) c.941A>C c.5001A>C c.1996A>C (p.Asn666His) c.7930A>C (p.Asn2644His) c.896-29886A>C c.2761A>C (p.Asn921His) c.7804A>C (p.Asn2602His) n.1733A>C c.7933A>C (p.Asn2645His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489889A>G	CA347266416	ALMS1	c.7549A>G (p.Asn2517Asp) c.941A>G c.5001A>G c.1996A>G (p.Asn666Asp) c.7930A>G (p.Asn2644Asp) c.896-29886A>G c.2761A>G (p.Asn921Asp) c.7804A>G (p.Asn2602Asp) n.1733A>G c.7933A>G (p.Asn2645Asp)
2	g.73489889A>T	CA347266417	ALMS1	c.7549A>T (p.Asn2517Tyr) c.941A>T c.5001A>T c.1996A>T (p.Asn666Tyr) c.7930A>T (p.Asn2644Tyr) c.896-29886A>T c.2761A>T (p.Asn921Tyr) c.7804A>T (p.Asn2602Tyr) n.1733A>T c.7933A>T (p.Asn2645Tyr)
2	g.73489890A>C	CA347266420	ALMS1	c.7550A>C (p.Asn2517Thr) c.942A>C c.5002A>C c.1997A>C (p.Asn666Thr) c.7931A>C (p.Asn2644Thr) c.896-29885A>C c.2762A>C (p.Asn921Thr) c.7805A>C (p.Asn2602Thr) n.1734A>C c.7934A>C (p.Asn2645Thr)
2	g.73489890A>G	CA347266422	ALMS1	c.7550A>G (p.Asn2517Ser) c.942A>G c.5002A>G c.1997A>G (p.Asn666Ser) c.7931A>G (p.Asn2644Ser) c.896-29885A>G c.2762A>G (p.Asn921Ser) c.7805A>G (p.Asn2602Ser) n.1734A>G c.7934A>G (p.Asn2645Ser)
2	g.73489890A>T	CA347266424	ALMS1	c.7550A>T (p.Asn2517Ile) c.942A>T c.5002A>T c.1997A>T (p.Asn666Ile) c.7931A>T (p.Asn2644Ile) c.896-29885A>T c.2762A>T (p.Asn921Ile) c.7805A>T (p.Asn2602Ile) n.1734A>T c.7934A>T (p.Asn2645Ile)
2	g.73489891T>A	CA347266427	ALMS1	c.7551T>A (p.Asn2517Lys) c.943T>A c.5003T>A c.1998T>A (p.Asn666Lys) c.7932T>A (p.Asn2644Lys) c.896-29884T>A c.2763T>A (p.Asn921Lys) c.7806T>A (p.Asn2602Lys) n.1735T>A c.7935T>A (p.Asn2645Lys)
2	g.73489891T>C	CA427000693	ALMS1	c.7551T>C (p.Asn2517=) c.943T>C c.5003T>C c.1998T>C (p.Asn666=) c.7932T>C (p.Asn2644=) c.896-29884T>C c.2763T>C (p.Asn921=) c.7806T>C (p.Asn2602=) n.1735T>C c.7935T>C (p.Asn2645=)	gnomAD v4
2	g.73489891T>G	CA347266429	ALMS1	c.7551T>G (p.Asn2517Lys) c.943T>G c.5003T>G c.1998T>G (p.Asn666Lys) c.7932T>G (p.Asn2644Lys) c.896-29884T>G c.2763T>G (p.Asn921Lys) c.7806T>G (p.Asn2602Lys) n.1735T>G c.7935T>G (p.Asn2645Lys)
2	g.73489892T>A	CA347266431	ALMS1	c.7552T>A (p.Ser2518Thr) c.944T>A c.5004T>A c.1999T>A (p.Ser667Thr) c.7933T>A (p.Ser2645Thr) c.896-29883T>A c.2764T>A (p.Ser922Thr) c.7807T>A (p.Ser2603Thr) n.1736T>A c.7936T>A (p.Ser2646Thr)
2	g.73489892T>C	CA347266433	ALMS1	c.7552T>C (p.Ser2518Pro) c.944T>C c.5004T>C c.1999T>C (p.Ser667Pro) c.7933T>C (p.Ser2645Pro) c.896-29883T>C c.2764T>C (p.Ser922Pro) c.7807T>C (p.Ser2603Pro) n.1736T>C c.7936T>C (p.Ser2646Pro)
2	g.73489892T>G	CA347266435	ALMS1	c.7552T>G (p.Ser2518Ala) c.944T>G c.5004T>G c.1999T>G (p.Ser667Ala) c.7933T>G (p.Ser2645Ala) c.896-29883T>G c.2764T>G (p.Ser922Ala) c.7807T>G (p.Ser2603Ala) n.1736T>G c.7936T>G (p.Ser2646Ala)
2	g.73489893C>A	CA347266440	ALMS1	c.7553C>A (p.Ser2518Tyr) c.945C>A c.5005C>A c.2000C>A (p.Ser667Tyr) c.7934C>A (p.Ser2645Tyr) c.896-29882C>A c.2765C>A (p.Ser922Tyr) c.7808C>A (p.Ser2603Tyr) n.1737C>A c.7937C>A (p.Ser2646Tyr)
2	g.73489893C>G	CA347266442	ALMS1	c.7553C>G (p.Ser2518Cys) c.945C>G c.5005C>G c.2000C>G (p.Ser667Cys) c.7934C>G (p.Ser2645Cys) c.896-29882C>G c.2765C>G (p.Ser922Cys) c.7808C>G (p.Ser2603Cys) n.1737C>G c.7937C>G (p.Ser2646Cys)
2	g.73489893C>T	CA347266438	ALMS1	c.7553C>T (p.Ser2518Phe) c.945C>T c.5005C>T c.2000C>T (p.Ser667Phe) c.7934C>T (p.Ser2645Phe) c.896-29882C>T c.2765C>T (p.Ser922Phe) c.7808C>T (p.Ser2603Phe) n.1737C>T c.7937C>T (p.Ser2646Phe)
2	g.73489894del	CA2659619827	ALMS1	c.7554del (p.Leu2519CysfsTer3) c.946del c.5006del c.2001del (p.Leu668CysfsTer3) c.7935del (p.Leu2646CysfsTer3) c.896-29881del c.2766del (p.Leu923CysfsTer3) c.7809del (p.Leu2604CysfsTer3) n.1738del c.7938del (p.Leu2647CysfsTer3)	gnomAD v4
2	g.73489894C>A	CA427000694	ALMS1	c.7554C>A (p.Ser2518=) c.946C>A c.5006C>A c.2001C>A (p.Ser667=) c.7935C>A (p.Ser2645=) c.896-29881C>A c.2766C>A (p.Ser922=) c.7809C>A (p.Ser2603=) n.1738C>A c.7938C>A (p.Ser2646=)
2	g.73489894C>G	CA427000695	ALMS1	c.7554C>G (p.Ser2518=) c.946C>G c.5006C>G c.2001C>G (p.Ser667=) c.7935C>G (p.Ser2645=) c.896-29881C>G c.2766C>G (p.Ser922=) c.7809C>G (p.Ser2603=) n.1738C>G c.7938C>G (p.Ser2646=)
2	g.73489894C>T	CA427000696	ALMS1	c.7554C>T (p.Ser2518=) c.946C>T c.5006C>T c.2001C>T (p.Ser667=) c.7935C>T (p.Ser2645=) c.896-29881C>T c.2766C>T (p.Ser922=) c.7809C>T (p.Ser2603=) n.1738C>T c.7938C>T (p.Ser2646=)	ClinVar dbSNP
2	g.73489895T>A	CA347266444	ALMS1	c.7555T>A (p.Leu2519Met) c.947T>A c.5007T>A c.2002T>A (p.Leu668Met) c.7936T>A (p.Leu2646Met) c.896-29880T>A c.2767T>A (p.Leu923Met) c.7810T>A (p.Leu2604Met) n.1739T>A c.7939T>A (p.Leu2647Met)
2	g.73489895T>C	CA427000697	ALMS1	c.7555T>C (p.Leu2519=) c.947T>C c.5007T>C c.2002T>C (p.Leu668=) c.7936T>C (p.Leu2646=) c.896-29880T>C c.2767T>C (p.Leu923=) c.7810T>C (p.Leu2604=) n.1739T>C c.7939T>C (p.Leu2647=)
2	g.73489895T>G	CA347266446	ALMS1	c.7555T>G (p.Leu2519Val) c.947T>G c.5007T>G c.2002T>G (p.Leu668Val) c.7936T>G (p.Leu2646Val) c.896-29880T>G c.2767T>G (p.Leu923Val) c.7810T>G (p.Leu2604Val) n.1739T>G c.7939T>G (p.Leu2647Val)
2	g.73489896T>A	CA347266449	ALMS1	c.7556T>A (p.Leu2519Ter) c.948T>A c.5008T>A c.2003T>A (p.Leu668Ter) c.7937T>A (p.Leu2646Ter) c.896-29879T>A c.2768T>A (p.Leu923Ter) c.7811T>A (p.Leu2604Ter) n.1740T>A c.7940T>A (p.Leu2647Ter)
2	g.73489896T>C	CA347266450	ALMS1	c.7556T>C (p.Leu2519Ser) c.948T>C c.5008T>C c.2003T>C (p.Leu668Ser) c.7937T>C (p.Leu2646Ser) c.896-29879T>C c.2768T>C (p.Leu923Ser) c.7811T>C (p.Leu2604Ser) n.1740T>C c.7940T>C (p.Leu2647Ser)
2	g.73489896T>G	CA347266451	ALMS1	c.7556T>G (p.Leu2519Trp) c.948T>G c.5008T>G c.2003T>G (p.Leu668Trp) c.7937T>G (p.Leu2646Trp) c.896-29879T>G c.2768T>G (p.Leu923Trp) c.7811T>G (p.Leu2604Trp) n.1740T>G c.7940T>G (p.Leu2647Trp)
2	g.73489897G>A	CA427000698	ALMS1	c.7557G>A (p.Leu2519=) c.949G>A c.5009G>A c.2004G>A (p.Leu668=) c.7938G>A (p.Leu2646=) c.896-29878G>A c.2769G>A (p.Leu923=) c.7812G>A (p.Leu2604=) n.1741G>A c.7941G>A (p.Leu2647=)
2	g.73489897G>C	CA347266452	ALMS1	c.7557G>C (p.Leu2519Phe) c.949G>C c.5009G>C c.2004G>C (p.Leu668Phe) c.7938G>C (p.Leu2646Phe) c.896-29878G>C c.2769G>C (p.Leu923Phe) c.7812G>C (p.Leu2604Phe) n.1741G>C c.7941G>C (p.Leu2647Phe)
2	g.73489897G>T	CA347266453	ALMS1	c.7557G>T (p.Leu2519Phe) c.949G>T c.5009G>T c.2004G>T (p.Leu668Phe) c.7938G>T (p.Leu2646Phe) c.896-29878G>T c.2769G>T (p.Leu923Phe) c.7812G>T (p.Leu2604Phe) n.1741G>T c.7941G>T (p.Leu2647Phe)
2	g.73489898C>A	CA347266455	ALMS1	c.7558C>A (p.Gln2520Lys) c.950C>A c.5010C>A c.2005C>A (p.Gln669Lys) c.7939C>A (p.Gln2647Lys) c.896-29877C>A c.2770C>A (p.Gln924Lys) c.7813C>A (p.Gln2605Lys) n.1742C>A c.7942C>A (p.Gln2648Lys)
2	g.73489898C>G	CA347266456	ALMS1	c.7558C>G (p.Gln2520Glu) c.950C>G c.5010C>G c.2005C>G (p.Gln669Glu) c.7939C>G (p.Gln2647Glu) c.896-29877C>G c.2770C>G (p.Gln924Glu) c.7813C>G (p.Gln2605Glu) n.1742C>G c.7942C>G (p.Gln2648Glu)
2	g.73489898C>T	CA347266457	ALMS1	c.7558C>T (p.Gln2520Ter) c.950C>T c.5010C>T c.2005C>T (p.Gln669Ter) c.7939C>T (p.Gln2647Ter) c.896-29877C>T c.2770C>T (p.Gln924Ter) c.7813C>T (p.Gln2605Ter) n.1742C>T c.7942C>T (p.Gln2648Ter)
2	g.73489899A>C	CA347266461	ALMS1	c.7559A>C (p.Gln2520Pro) c.951A>C c.5011A>C c.2006A>C (p.Gln669Pro) c.7940A>C (p.Gln2647Pro) c.896-29876A>C c.2771A>C (p.Gln924Pro) c.7814A>C (p.Gln2605Pro) n.1743A>C c.7943A>C (p.Gln2648Pro)
2	g.73489899A>G	CA347266464	ALMS1	c.7559A>G (p.Gln2520Arg) c.951A>G c.5011A>G c.2006A>G (p.Gln669Arg) c.7940A>G (p.Gln2647Arg) c.896-29876A>G c.2771A>G (p.Gln924Arg) c.7814A>G (p.Gln2605Arg) n.1743A>G c.7943A>G (p.Gln2648Arg)	ClinVar dbSNP gnomAD v4
2	g.73489899A>T	CA347266465	ALMS1	c.7559A>T (p.Gln2520Leu) c.951A>T c.5011A>T c.2006A>T (p.Gln669Leu) c.7940A>T (p.Gln2647Leu) c.896-29876A>T c.2771A>T (p.Gln924Leu) c.7814A>T (p.Gln2605Leu) n.1743A>T c.7943A>T (p.Gln2648Leu)	gnomAD v4
2	g.73489900G>A	CA427000699	ALMS1	c.7560G>A (p.Gln2520=) c.952G>A c.5012G>A c.2007G>A (p.Gln669=) c.7941G>A (p.Gln2647=) c.896-29875G>A c.2772G>A (p.Gln924=) c.7815G>A (p.Gln2605=) n.1744G>A c.7944G>A (p.Gln2648=)
2	g.73489900G>C	CA347266470	ALMS1	c.7560G>C (p.Gln2520His) c.952G>C c.5012G>C c.2007G>C (p.Gln669His) c.7941G>C (p.Gln2647His) c.896-29875G>C c.2772G>C (p.Gln924His) c.7815G>C (p.Gln2605His) n.1744G>C c.7944G>C (p.Gln2648His)
2	g.73489900G>T	CA347266467	ALMS1	c.7560G>T (p.Gln2520His) c.952G>T c.5012G>T c.2007G>T (p.Gln669His) c.7941G>T (p.Gln2647His) c.896-29875G>T c.2772G>T (p.Gln924His) c.7815G>T (p.Gln2605His) n.1744G>T c.7944G>T (p.Gln2648His)	gnomAD v4
2	g.73489901T>A	CA347266472	ALMS1	c.7561T>A (p.Leu2521Ile) c.953T>A c.5013T>A c.2008T>A (p.Leu670Ile) c.7942T>A (p.Leu2648Ile) c.896-29874T>A c.2773T>A (p.Leu925Ile) c.7816T>A (p.Leu2606Ile) n.1745T>A c.7945T>A (p.Leu2649Ile)
2	g.73489901T>C	CA427000700	ALMS1	c.7561T>C (p.Leu2521=) c.953T>C c.5013T>C c.2008T>C (p.Leu670=) c.7942T>C (p.Leu2648=) c.896-29874T>C c.2773T>C (p.Leu925=) c.7816T>C (p.Leu2606=) n.1745T>C c.7945T>C (p.Leu2649=)
2	g.73489901T>G	CA347266474	ALMS1	c.7561T>G (p.Leu2521Val) c.953T>G c.5013T>G c.2008T>G (p.Leu670Val) c.7942T>G (p.Leu2648Val) c.896-29874T>G c.2773T>G (p.Leu925Val) c.7816T>G (p.Leu2606Val) n.1745T>G c.7945T>G (p.Leu2649Val)
2	g.73489902T>A	CA347266477	ALMS1	c.7562T>A (p.Leu2521Ter) c.954T>A c.5014T>A c.2009T>A (p.Leu670Ter) c.7943T>A (p.Leu2648Ter) c.896-29873T>A c.2774T>A (p.Leu925Ter) c.7817T>A (p.Leu2606Ter) n.1746T>A c.7946T>A (p.Leu2649Ter)
2	g.73489902T>C	CA347266480	ALMS1	c.7562T>C (p.Leu2521Ser) c.954T>C c.5014T>C c.2009T>C (p.Leu670Ser) c.7943T>C (p.Leu2648Ser) c.896-29873T>C c.2774T>C (p.Leu925Ser) c.7817T>C (p.Leu2606Ser) n.1746T>C c.7946T>C (p.Leu2649Ser)
2	g.73489902T>G	CA1714378	ALMS1	c.7562T>G (p.Leu2521Ter) c.954T>G c.5014T>G c.2009T>G (p.Leu670Ter) c.7943T>G (p.Leu2648Ter) c.896-29873T>G c.2774T>G (p.Leu925Ter) c.7817T>G (p.Leu2606Ter) n.1746T>G c.7946T>G (p.Leu2649Ter)	dbSNP ExAC gnomAD v2
2	g.73489902T=	CA1260981211	ALMS1	c.7562T= (p.Leu2521=) c.954T= c.5014T= c.2009T= (p.Leu670=) c.7943T= (p.Leu2648=) c.896-29873T= c.2774T= (p.Leu925=) c.7817T= (p.Leu2606=) n.1746T= c.7946T= (p.Leu2649=)
2	g.73489903A=	CA1260981212	ALMS1	c.7563A= (p.Leu2521=) c.955A= c.5015A= c.2010A= (p.Leu670=) c.7944A= (p.Leu2648=) c.896-29872A= c.2775A= (p.Leu925=) c.7818A= (p.Leu2606=) n.1747A= c.7947A= (p.Leu2649=)
2	g.73489903A>C	CA347266486	ALMS1	c.7563A>C (p.Leu2521Phe) c.955A>C c.5015A>C c.2010A>C (p.Leu670Phe) c.7944A>C (p.Leu2648Phe) c.896-29872A>C c.2775A>C (p.Leu925Phe) c.7818A>C (p.Leu2606Phe) n.1747A>C c.7947A>C (p.Leu2649Phe)
2	g.73489903A>G	CA427000701	ALMS1	c.7563A>G (p.Leu2521=) c.955A>G c.5015A>G c.2010A>G (p.Leu670=) c.7944A>G (p.Leu2648=) c.896-29872A>G c.2775A>G (p.Leu925=) c.7818A>G (p.Leu2606=) n.1747A>G c.7947A>G (p.Leu2649=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73489903A>T	CA347266489	ALMS1	c.7563A>T (p.Leu2521Phe) c.955A>T c.5015A>T c.2010A>T (p.Leu670Phe) c.7944A>T (p.Leu2648Phe) c.896-29872A>T c.2775A>T (p.Leu925Phe) c.7818A>T (p.Leu2606Phe) n.1747A>T c.7947A>T (p.Leu2649Phe)
2	g.73489907del	CA2580068230	ALMS1	c.7567del (p.Ser2523ValfsTer?) c.959del c.5019del c.2014del (p.Ser672ValfsTer?) c.7948del (p.Ser2650ValfsTer?) c.896-29868del c.2779del (p.Ser927ValfsTer?) c.7822del (p.Ser2608ValfsTer?) n.1751del c.7951del (p.Ser2651ValfsTer?)	ClinVar
2	g.73489904A>C	CA347266491	ALMS1	c.7564A>C (p.Lys2522Gln) c.956A>C c.5016A>C c.2011A>C (p.Lys671Gln) c.7945A>C (p.Lys2649Gln) c.896-29871A>C c.2776A>C (p.Lys926Gln) c.7819A>C (p.Lys2607Gln) n.1748A>C c.7948A>C (p.Lys2650Gln)
2	g.73489904A>G	CA347266497	ALMS1	c.7564A>G (p.Lys2522Glu) c.956A>G c.5016A>G c.2011A>G (p.Lys671Glu) c.7945A>G (p.Lys2649Glu) c.896-29871A>G c.2776A>G (p.Lys926Glu) c.7819A>G (p.Lys2607Glu) n.1748A>G c.7948A>G (p.Lys2650Glu)
2	g.73489904A>T	CA347266495	ALMS1	c.7564A>T (p.Lys2522Ter) c.956A>T c.5016A>T c.2011A>T (p.Lys671Ter) c.7945A>T (p.Lys2649Ter) c.896-29871A>T c.2776A>T (p.Lys926Ter) c.7819A>T (p.Lys2607Ter) n.1748A>T c.7948A>T (p.Lys2650Ter)
2	g.73489905A>C	CA347266500	ALMS1	c.7565A>C (p.Lys2522Thr) c.957A>C c.5017A>C c.2012A>C (p.Lys671Thr) c.7946A>C (p.Lys2649Thr) c.896-29870A>C c.2777A>C (p.Lys926Thr) c.7820A>C (p.Lys2607Thr) n.1749A>C c.7949A>C (p.Lys2650Thr)
2	g.73489905A>G	CA347266503	ALMS1	c.7565A>G (p.Lys2522Arg) c.957A>G c.5017A>G c.2012A>G (p.Lys671Arg) c.7946A>G (p.Lys2649Arg) c.896-29870A>G c.2777A>G (p.Lys926Arg) c.7820A>G (p.Lys2607Arg) n.1749A>G c.7949A>G (p.Lys2650Arg)
2	g.73489905A>T	CA347266507	ALMS1	c.7565A>T (p.Lys2522Ile) c.957A>T c.5017A>T c.2012A>T (p.Lys671Ile) c.7946A>T (p.Lys2649Ile) c.896-29870A>T c.2777A>T (p.Lys926Ile) c.7820A>T (p.Lys2607Ile) n.1749A>T c.7949A>T (p.Lys2650Ile)
2	g.73489906A>C	CA347266509	ALMS1	c.7566A>C (p.Lys2522Asn) c.958A>C c.5018A>C c.2013A>C (p.Lys671Asn) c.7947A>C (p.Lys2649Asn) c.896-29869A>C c.2778A>C (p.Lys926Asn) c.7821A>C (p.Lys2607Asn) n.1750A>C c.7950A>C (p.Lys2650Asn)
2	g.73489906A>G	CA427000702	ALMS1	c.7566A>G (p.Lys2522=) c.958A>G c.5018A>G c.2013A>G (p.Lys671=) c.7947A>G (p.Lys2649=) c.896-29869A>G c.2778A>G (p.Lys926=) c.7821A>G (p.Lys2607=) n.1750A>G c.7950A>G (p.Lys2650=)
2	g.73489906A>T	CA347266512	ALMS1	c.7566A>T (p.Lys2522Asn) c.958A>T c.5018A>T c.2013A>T (p.Lys671Asn) c.7947A>T (p.Lys2649Asn) c.896-29869A>T c.2778A>T (p.Lys926Asn) c.7821A>T (p.Lys2607Asn) n.1750A>T c.7950A>T (p.Lys2650Asn)
2	g.73489907A=	CA1260981213	ALMS1	c.7567A= (p.Ser2523=) c.959A= c.5019A= c.2014A= (p.Ser672=) c.7948A= (p.Ser2650=) c.896-29868A= c.2779A= (p.Ser927=) c.7822A= (p.Ser2608=) n.1751A= c.7951A= (p.Ser2651=)
2	g.73489907A>C	CA347266516	ALMS1	c.7567A>C (p.Ser2523Arg) c.959A>C c.5019A>C c.2014A>C (p.Ser672Arg) c.7948A>C (p.Ser2650Arg) c.896-29868A>C c.2779A>C (p.Ser927Arg) c.7822A>C (p.Ser2608Arg) n.1751A>C c.7951A>C (p.Ser2651Arg)	ClinVar dbSNP
2	g.73489907A>G	CA1714379	ALMS1	c.7567A>G (p.Ser2523Gly) c.959A>G c.5019A>G c.2014A>G (p.Ser672Gly) c.7948A>G (p.Ser2650Gly) c.896-29868A>G c.2779A>G (p.Ser927Gly) c.7822A>G (p.Ser2608Gly) n.1751A>G c.7951A>G (p.Ser2651Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489907A>T	CA347266514	ALMS1	c.7567A>T (p.Ser2523Cys) c.959A>T c.5019A>T c.2014A>T (p.Ser672Cys) c.7948A>T (p.Ser2650Cys) c.896-29868A>T c.2779A>T (p.Ser927Cys) c.7822A>T (p.Ser2608Cys) n.1751A>T c.7951A>T (p.Ser2651Cys)
2	g.73489908G>A	CA347266521	ALMS1	c.7568G>A (p.Ser2523Asn) c.960G>A c.5020G>A c.2015G>A (p.Ser672Asn) c.7949G>A (p.Ser2650Asn) c.896-29867G>A c.2780G>A (p.Ser927Asn) c.7823G>A (p.Ser2608Asn) n.1752G>A c.7952G>A (p.Ser2651Asn)
2	g.73489908G>C	CA347266524	ALMS1	c.7568G>C (p.Ser2523Thr) c.960G>C c.5020G>C c.2015G>C (p.Ser672Thr) c.7949G>C (p.Ser2650Thr) c.896-29867G>C c.2780G>C (p.Ser927Thr) c.7823G>C (p.Ser2608Thr) n.1752G>C c.7952G>C (p.Ser2651Thr)
2	g.73489908G>T	CA347266522	ALMS1	c.7568G>T (p.Ser2523Ile) c.960G>T c.5020G>T c.2015G>T (p.Ser672Ile) c.7949G>T (p.Ser2650Ile) c.896-29867G>T c.2780G>T (p.Ser927Ile) c.7823G>T (p.Ser2608Ile) n.1752G>T c.7952G>T (p.Ser2651Ile)
2	g.73489909T>A	CA347266526	ALMS1	c.7569T>A (p.Ser2523Arg) c.961T>A c.5021T>A c.2016T>A (p.Ser672Arg) c.7950T>A (p.Ser2650Arg) c.896-29866T>A c.2781T>A (p.Ser927Arg) c.7824T>A (p.Ser2608Arg) n.1753T>A c.7953T>A (p.Ser2651Arg)
2	g.73489909T>C	CA427000703	ALMS1	c.7569T>C (p.Ser2523=) c.961T>C c.5021T>C c.2016T>C (p.Ser672=) c.7950T>C (p.Ser2650=) c.896-29866T>C c.2781T>C (p.Ser927=) c.7824T>C (p.Ser2608=) n.1753T>C c.7953T>C (p.Ser2651=)	dbSNP gnomAD v3 gnomAD v4
2	g.73489909T>G	CA347266527	ALMS1	c.7569T>G (p.Ser2523Arg) c.961T>G c.5021T>G c.2016T>G (p.Ser672Arg) c.7950T>G (p.Ser2650Arg) c.896-29866T>G c.2781T>G (p.Ser927Arg) c.7824T>G (p.Ser2608Arg) n.1753T>G c.7953T>G (p.Ser2651Arg)
2	g.73489909T=	CA1260981214	ALMS1	c.7569T= (p.Ser2523=) c.961T= c.5021T= c.2016T= (p.Ser672=) c.7950T= (p.Ser2650=) c.896-29866T= c.2781T= (p.Ser927=) c.7824T= (p.Ser2608=) n.1753T= c.7953T= (p.Ser2651=)
2	g.73489910C>A	CA347266530	ALMS1	c.7570C>A (p.His2524Asn) c.962C>A c.5022C>A c.2017C>A (p.His673Asn) c.7951C>A (p.His2651Asn) c.896-29865C>A c.2782C>A (p.His928Asn) c.7825C>A (p.His2609Asn) n.1754C>A c.7954C>A (p.His2652Asn)
2	g.73489910C>G	CA347266533	ALMS1	c.7570C>G (p.His2524Asp) c.962C>G c.5022C>G c.2017C>G (p.His673Asp) c.7951C>G (p.His2651Asp) c.896-29865C>G c.2782C>G (p.His928Asp) c.7825C>G (p.His2609Asp) n.1754C>G c.7954C>G (p.His2652Asp)
2	g.73489910C>T	CA347266536	ALMS1	c.7570C>T (p.His2524Tyr) c.962C>T c.5022C>T c.2017C>T (p.His673Tyr) c.7951C>T (p.His2651Tyr) c.896-29865C>T c.2782C>T (p.His928Tyr) c.7825C>T (p.His2609Tyr) n.1754C>T c.7954C>T (p.His2652Tyr)	gnomAD v4
2	g.73489911A=	CA1260981215	ALMS1	c.7571A= (p.His2524=) c.963A= c.5023A= c.2018A= (p.His673=) c.7952A= (p.His2651=) c.896-29864A= c.2783A= (p.His928=) c.7826A= (p.His2609=) n.1755A= c.7955A= (p.His2652=)
2	g.73489911A>C	CA1714380	ALMS1	c.7571A>C (p.His2524Pro) c.963A>C c.5023A>C c.2018A>C (p.His673Pro) c.7952A>C (p.His2651Pro) c.896-29864A>C c.2783A>C (p.His928Pro) c.7826A>C (p.His2609Pro) n.1755A>C c.7955A>C (p.His2652Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489911A>G	CA347266538	ALMS1	c.7571A>G (p.His2524Arg) c.963A>G c.5023A>G c.2018A>G (p.His673Arg) c.7952A>G (p.His2651Arg) c.896-29864A>G c.2783A>G (p.His928Arg) c.7826A>G (p.His2609Arg) n.1755A>G c.7955A>G (p.His2652Arg)	gnomAD v4
2	g.73489911A>T	CA347266540	ALMS1	c.7571A>T (p.His2524Leu) c.963A>T c.5023A>T c.2018A>T (p.His673Leu) c.7952A>T (p.His2651Leu) c.896-29864A>T c.2783A>T (p.His928Leu) c.7826A>T (p.His2609Leu) n.1755A>T c.7955A>T (p.His2652Leu)
2	g.73489912T>A	CA347266544	ALMS1	c.7572T>A (p.His2524Gln) c.964T>A c.5024T>A c.2019T>A (p.His673Gln) c.7953T>A (p.His2651Gln) c.896-29863T>A c.2784T>A (p.His928Gln) c.7827T>A (p.His2609Gln) n.1756T>A c.7956T>A (p.His2652Gln)
2	g.73489912T>C	CA427000704	ALMS1	c.7572T>C (p.His2524=) c.964T>C c.5024T>C c.2019T>C (p.His673=) c.7953T>C (p.His2651=) c.896-29863T>C c.2784T>C (p.His928=) c.7827T>C (p.His2609=) n.1756T>C c.7956T>C (p.His2652=)	gnomAD v4
2	g.73489912T>G	CA347266547	ALMS1	c.7572T>G (p.His2524Gln) c.964T>G c.5024T>G c.2019T>G (p.His673Gln) c.7953T>G (p.His2651Gln) c.896-29863T>G c.2784T>G (p.His928Gln) c.7827T>G (p.His2609Gln) n.1756T>G c.7956T>G (p.His2652Gln)
2	g.73489913T>A	CA347266551	ALMS1	c.7573T>A (p.Ser2525Thr) c.965T>A c.5025T>A c.2020T>A (p.Ser674Thr) c.7954T>A (p.Ser2652Thr) c.896-29862T>A c.2785T>A (p.Ser929Thr) c.7828T>A (p.Ser2610Thr) n.1757T>A c.7957T>A (p.Ser2653Thr)
2	g.73489913T>C	CA347266553	ALMS1	c.7573T>C (p.Ser2525Pro) c.965T>C c.5025T>C c.2020T>C (p.Ser674Pro) c.7954T>C (p.Ser2652Pro) c.896-29862T>C c.2785T>C (p.Ser929Pro) c.7828T>C (p.Ser2610Pro) n.1757T>C c.7957T>C (p.Ser2653Pro)
2	g.73489913T>G	CA347266556	ALMS1	c.7573T>G (p.Ser2525Ala) c.965T>G c.5025T>G c.2020T>G (p.Ser674Ala) c.7954T>G (p.Ser2652Ala) c.896-29862T>G c.2785T>G (p.Ser929Ala) c.7828T>G (p.Ser2610Ala) n.1757T>G c.7957T>G (p.Ser2653Ala)
2	g.73489914C>A	CA347266563	ALMS1	c.7574C>A (p.Ser2525Tyr) c.966C>A c.5026C>A c.2021C>A (p.Ser674Tyr) c.7955C>A (p.Ser2652Tyr) c.896-29861C>A c.2786C>A (p.Ser929Tyr) c.7829C>A (p.Ser2610Tyr) n.1758C>A c.7958C>A (p.Ser2653Tyr)
2	g.73489914C=	CA1260981216	ALMS1	c.7574C= (p.Ser2525=) c.966C= c.5026C= c.2021C= (p.Ser674=) c.7955C= (p.Ser2652=) c.896-29861C= c.2786C= (p.Ser929=) c.7829C= (p.Ser2610=) n.1758C= c.7958C= (p.Ser2653=)
2	g.73489914C>G	CA1714381	ALMS1	c.7574C>G (p.Ser2525Cys) c.966C>G c.5026C>G c.2021C>G (p.Ser674Cys) c.7955C>G (p.Ser2652Cys) c.896-29861C>G c.2786C>G (p.Ser929Cys) c.7829C>G (p.Ser2610Cys) n.1758C>G c.7958C>G (p.Ser2653Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489914C>T	CA50377758	ALMS1	c.7574C>T (p.Ser2525Phe) c.966C>T c.5026C>T c.2021C>T (p.Ser674Phe) c.7955C>T (p.Ser2652Phe) c.896-29861C>T c.2786C>T (p.Ser929Phe) c.7829C>T (p.Ser2610Phe) n.1758C>T c.7958C>T (p.Ser2653Phe)	dbSNP gnomAD v4
2	g.73489915C>A	CA427000705	ALMS1	c.7575C>A (p.Ser2525=) c.967C>A c.5027C>A c.2022C>A (p.Ser674=) c.7956C>A (p.Ser2652=) c.896-29860C>A c.2787C>A (p.Ser929=) c.7830C>A (p.Ser2610=) n.1759C>A c.7959C>A (p.Ser2653=)
2	g.73489915C>G	CA427000706	ALMS1	c.7575C>G (p.Ser2525=) c.967C>G c.5027C>G c.2022C>G (p.Ser674=) c.7956C>G (p.Ser2652=) c.896-29860C>G c.2787C>G (p.Ser929=) c.7830C>G (p.Ser2610=) n.1759C>G c.7959C>G (p.Ser2653=)
2	g.73489915C>T	CA427000707	ALMS1	c.7575C>T (p.Ser2525=) c.967C>T c.5027C>T c.2022C>T (p.Ser674=) c.7956C>T (p.Ser2652=) c.896-29860C>T c.2787C>T (p.Ser929=) c.7830C>T (p.Ser2610=) n.1759C>T c.7959C>T (p.Ser2653=)	ClinVar dbSNP
2	g.73489916C>A	CA347266565	ALMS1	c.7576C>A (p.Pro2526Thr) c.968C>A c.5028C>A c.2023C>A (p.Pro675Thr) c.7957C>A (p.Pro2653Thr) c.896-29859C>A c.2788C>A (p.Pro930Thr) c.7831C>A (p.Pro2611Thr) n.1760C>A c.7960C>A (p.Pro2654Thr)
2	g.73489916C>G	CA347266567	ALMS1	c.7576C>G (p.Pro2526Ala) c.968C>G c.5028C>G c.2023C>G (p.Pro675Ala) c.7957C>G (p.Pro2653Ala) c.896-29859C>G c.2788C>G (p.Pro930Ala) c.7831C>G (p.Pro2611Ala) n.1760C>G c.7960C>G (p.Pro2654Ala)	ClinVar gnomAD v4
2	g.73489916C>T	CA347266577	ALMS1	c.7576C>T (p.Pro2526Ser) c.968C>T c.5028C>T c.2023C>T (p.Pro675Ser) c.7957C>T (p.Pro2653Ser) c.896-29859C>T c.2788C>T (p.Pro930Ser) c.7831C>T (p.Pro2611Ser) n.1760C>T c.7960C>T (p.Pro2654Ser)
2	g.73489917C>A	CA347266580	ALMS1	c.7577C>A (p.Pro2526Gln) c.969C>A c.5029C>A c.2024C>A (p.Pro675Gln) c.7958C>A (p.Pro2653Gln) c.896-29858C>A c.2789C>A (p.Pro930Gln) c.7832C>A (p.Pro2611Gln) n.1761C>A c.7961C>A (p.Pro2654Gln)
2	g.73489917C>G	CA347266583	ALMS1	c.7577C>G (p.Pro2526Arg) c.969C>G c.5029C>G c.2024C>G (p.Pro675Arg) c.7958C>G (p.Pro2653Arg) c.896-29858C>G c.2789C>G (p.Pro930Arg) c.7832C>G (p.Pro2611Arg) n.1761C>G c.7961C>G (p.Pro2654Arg)
2	g.73489917C>T	CA347266585	ALMS1	c.7577C>T (p.Pro2526Leu) c.969C>T c.5029C>T c.2024C>T (p.Pro675Leu) c.7958C>T (p.Pro2653Leu) c.896-29858C>T c.2789C>T (p.Pro930Leu) c.7832C>T (p.Pro2611Leu) n.1761C>T c.7961C>T (p.Pro2654Leu)
2	g.73489918A=	CA1260981217	ALMS1	c.7578A= (p.Pro2526=) c.970A= c.5030A= c.2025A= (p.Pro675=) c.7959A= (p.Pro2653=) c.896-29857A= c.2790A= (p.Pro930=) c.7833A= (p.Pro2611=) n.1762A= c.7962A= (p.Pro2654=)
2	g.73489918A>C	CA427000708	ALMS1	c.7578A>C (p.Pro2526=) c.970A>C c.5030A>C c.2025A>C (p.Pro675=) c.7959A>C (p.Pro2653=) c.896-29857A>C c.2790A>C (p.Pro930=) c.7833A>C (p.Pro2611=) n.1762A>C c.7962A>C (p.Pro2654=)	gnomAD v4
2	g.73489918A>G	CA1714382	ALMS1	c.7578A>G (p.Pro2526=) c.970A>G c.5030A>G c.2025A>G (p.Pro675=) c.7959A>G (p.Pro2653=) c.896-29857A>G c.2790A>G (p.Pro930=) c.7833A>G (p.Pro2611=) n.1762A>G c.7962A>G (p.Pro2654=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489918A>T	CA427000709	ALMS1	c.7578A>T (p.Pro2526=) c.970A>T c.5030A>T c.2025A>T (p.Pro675=) c.7959A>T (p.Pro2653=) c.896-29857A>T c.2790A>T (p.Pro930=) c.7833A>T (p.Pro2611=) n.1762A>T c.7962A>T (p.Pro2654=)
2	g.73489919T>A	CA347266597	ALMS1	c.7579T>A (p.Phe2527Ile) c.971T>A c.5031T>A c.2026T>A (p.Phe676Ile) c.7960T>A (p.Phe2654Ile) c.896-29856T>A c.2791T>A (p.Phe931Ile) c.7834T>A (p.Phe2612Ile) n.1763T>A c.7963T>A (p.Phe2655Ile)
2	g.73489919T>C	CA347266600	ALMS1	c.7579T>C (p.Phe2527Leu) c.971T>C c.5031T>C c.2026T>C (p.Phe676Leu) c.7960T>C (p.Phe2654Leu) c.896-29856T>C c.2791T>C (p.Phe931Leu) c.7834T>C (p.Phe2612Leu) n.1763T>C c.7963T>C (p.Phe2655Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.73489919T>G	CA347266602	ALMS1	c.7579T>G (p.Phe2527Val) c.971T>G c.5031T>G c.2026T>G (p.Phe676Val) c.7960T>G (p.Phe2654Val) c.896-29856T>G c.2791T>G (p.Phe931Val) c.7834T>G (p.Phe2612Val) n.1763T>G c.7963T>G (p.Phe2655Val)
2	g.73489919T=	CA1260981218	ALMS1	c.7579T= (p.Phe2527=) c.971T= c.5031T= c.2026T= (p.Phe676=) c.7960T= (p.Phe2654=) c.896-29856T= c.2791T= (p.Phe931=) c.7834T= (p.Phe2612=) n.1763T= c.7963T= (p.Phe2655=)
2	g.73489920T>A	CA347266605	ALMS1	c.7580T>A (p.Phe2527Tyr) c.972T>A c.5032T>A c.2027T>A (p.Phe676Tyr) c.7961T>A (p.Phe2654Tyr) c.896-29855T>A c.2792T>A (p.Phe931Tyr) c.7835T>A (p.Phe2612Tyr) n.1764T>A c.7964T>A (p.Phe2655Tyr)
2	g.73489920T>C	CA347266609	ALMS1	c.7580T>C (p.Phe2527Ser) c.972T>C c.5032T>C c.2027T>C (p.Phe676Ser) c.7961T>C (p.Phe2654Ser) c.896-29855T>C c.2792T>C (p.Phe931Ser) c.7835T>C (p.Phe2612Ser) n.1764T>C c.7964T>C (p.Phe2655Ser)
2	g.73489920T>G	CA347266612	ALMS1	c.7580T>G (p.Phe2527Cys) c.972T>G c.5032T>G c.2027T>G (p.Phe676Cys) c.7961T>G (p.Phe2654Cys) c.896-29855T>G c.2792T>G (p.Phe931Cys) c.7835T>G (p.Phe2612Cys) n.1764T>G c.7964T>G (p.Phe2655Cys)	gnomAD v4
2	g.73489921T>A	CA347266613	ALMS1	c.7581T>A (p.Phe2527Leu) c.973T>A c.5033T>A c.2028T>A (p.Phe676Leu) c.7962T>A (p.Phe2654Leu) c.896-29854T>A c.2793T>A (p.Phe931Leu) c.7836T>A (p.Phe2612Leu) n.1765T>A c.7965T>A (p.Phe2655Leu)
2	g.73489921T>C	CA427000710	ALMS1	c.7581T>C (p.Phe2527=) c.973T>C c.5033T>C c.2028T>C (p.Phe676=) c.7962T>C (p.Phe2654=) c.896-29854T>C c.2793T>C (p.Phe931=) c.7836T>C (p.Phe2612=) n.1765T>C c.7965T>C (p.Phe2655=)
2	g.73489921T>G	CA347266616	ALMS1	c.7581T>G (p.Phe2527Leu) c.973T>G c.5033T>G c.2028T>G (p.Phe676Leu) c.7962T>G (p.Phe2654Leu) c.896-29854T>G c.2793T>G (p.Phe931Leu) c.7836T>G (p.Phe2612Leu) n.1765T>G c.7965T>G (p.Phe2655Leu)	gnomAD v4
2	g.73489922C>A	CA347266619	ALMS1	c.7582C>A (p.Gln2528Lys) c.974C>A c.5034C>A c.2029C>A (p.Gln677Lys) c.7963C>A (p.Gln2655Lys) c.896-29853C>A c.2794C>A (p.Gln932Lys) c.7837C>A (p.Gln2613Lys) n.1766C>A c.7966C>A (p.Gln2656Lys)
2	g.73489922C>G	CA347266622	ALMS1	c.7582C>G (p.Gln2528Glu) c.974C>G c.5034C>G c.2029C>G (p.Gln677Glu) c.7963C>G (p.Gln2655Glu) c.896-29853C>G c.2794C>G (p.Gln932Glu) c.7837C>G (p.Gln2613Glu) n.1766C>G c.7966C>G (p.Gln2656Glu)
2	g.73489922C>T	CA347266624	ALMS1	c.7582C>T (p.Gln2528Ter) c.974C>T c.5034C>T c.2029C>T (p.Gln677Ter) c.7963C>T (p.Gln2655Ter) c.896-29853C>T c.2794C>T (p.Gln932Ter) c.7837C>T (p.Gln2613Ter) n.1766C>T c.7966C>T (p.Gln2656Ter)
2	g.73489923A=	CA1260981219	ALMS1	c.7583A= (p.Gln2528=) c.975A= c.5035A= c.2030A= (p.Gln677=) c.7964A= (p.Gln2655=) c.896-29852A= c.2795A= (p.Gln932=) c.7838A= (p.Gln2613=) n.1767A= c.7967A= (p.Gln2656=)
2	g.73489923A>C	CA347266625	ALMS1	c.7583A>C (p.Gln2528Pro) c.975A>C c.5035A>C c.2030A>C (p.Gln677Pro) c.7964A>C (p.Gln2655Pro) c.896-29852A>C c.2795A>C (p.Gln932Pro) c.7838A>C (p.Gln2613Pro) n.1767A>C c.7967A>C (p.Gln2656Pro)	dbSNP
2	g.73489923A>G	CA347266630	ALMS1	c.7583A>G (p.Gln2528Arg) c.975A>G c.5035A>G c.2030A>G (p.Gln677Arg) c.7964A>G (p.Gln2655Arg) c.896-29852A>G c.2795A>G (p.Gln932Arg) c.7838A>G (p.Gln2613Arg) n.1767A>G c.7967A>G (p.Gln2656Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73489923A>T	CA347266632	ALMS1	c.7583A>T (p.Gln2528Leu) c.975A>T c.5035A>T c.2030A>T (p.Gln677Leu) c.7964A>T (p.Gln2655Leu) c.896-29852A>T c.2795A>T (p.Gln932Leu) c.7838A>T (p.Gln2613Leu) n.1767A>T c.7967A>T (p.Gln2656Leu)
2	g.73489924G>A	CA427000711	ALMS1	c.7584G>A (p.Gln2528=) c.976G>A c.5036G>A c.2031G>A (p.Gln677=) c.7965G>A (p.Gln2655=) c.896-29851G>A c.2796G>A (p.Gln932=) c.7839G>A (p.Gln2613=) n.1768G>A c.7968G>A (p.Gln2656=)	gnomAD v4
2	g.73489924G>C	CA347266635	ALMS1	c.7584G>C (p.Gln2528His) c.976G>C c.5036G>C c.2031G>C (p.Gln677His) c.7965G>C (p.Gln2655His) c.896-29851G>C c.2796G>C (p.Gln932His) c.7839G>C (p.Gln2613His) n.1768G>C c.7968G>C (p.Gln2656His)
2	g.73489924G>T	CA347266638	ALMS1	c.7584G>T (p.Gln2528His) c.976G>T c.5036G>T c.2031G>T (p.Gln677His) c.7965G>T (p.Gln2655His) c.896-29851G>T c.2796G>T (p.Gln932His) c.7839G>T (p.Gln2613His) n.1768G>T c.7968G>T (p.Gln2656His)
2	g.73489925A>C	CA347266641	ALMS1	c.7585A>C (p.Asn2529His) c.977A>C c.5037A>C c.2032A>C (p.Asn678His) c.7966A>C (p.Asn2656His) c.896-29850A>C c.2797A>C (p.Asn933His) c.7840A>C (p.Asn2614His) n.1769A>C c.7969A>C (p.Asn2657His)
2	g.73489925A>G	CA347266643	ALMS1	c.7585A>G (p.Asn2529Asp) c.977A>G c.5037A>G c.2032A>G (p.Asn678Asp) c.7966A>G (p.Asn2656Asp) c.896-29850A>G c.2797A>G (p.Asn933Asp) c.7840A>G (p.Asn2614Asp) n.1769A>G c.7969A>G (p.Asn2657Asp)
2	g.73489925A>T	CA347266645	ALMS1	c.7585A>T (p.Asn2529Tyr) c.977A>T c.5037A>T c.2032A>T (p.Asn678Tyr) c.7966A>T (p.Asn2656Tyr) c.896-29850A>T c.2797A>T (p.Asn933Tyr) c.7840A>T (p.Asn2614Tyr) n.1769A>T c.7969A>T (p.Asn2657Tyr)
2	g.73489926A>C	CA347266648	ALMS1	c.7586A>C (p.Asn2529Thr) c.978A>C c.5038A>C c.2033A>C (p.Asn678Thr) c.7967A>C (p.Asn2656Thr) c.896-29849A>C c.2798A>C (p.Asn933Thr) c.7841A>C (p.Asn2614Thr) n.1770A>C c.7970A>C (p.Asn2657Thr)
2	g.73489926A>G	CA347266651	ALMS1	c.7586A>G (p.Asn2529Ser) c.978A>G c.5038A>G c.2033A>G (p.Asn678Ser) c.7967A>G (p.Asn2656Ser) c.896-29849A>G c.2798A>G (p.Asn933Ser) c.7841A>G (p.Asn2614Ser) n.1770A>G c.7970A>G (p.Asn2657Ser)
2	g.73489926A>T	CA347266653	ALMS1	c.7586A>T (p.Asn2529Ile) c.978A>T c.5038A>T c.2033A>T (p.Asn678Ile) c.7967A>T (p.Asn2656Ile) c.896-29849A>T c.2798A>T (p.Asn933Ile) c.7841A>T (p.Asn2614Ile) n.1770A>T c.7970A>T (p.Asn2657Ile)
2	g.73489928_73489934del	CA2582342409	ALMS1	c.7588_7594del (p.Phe2530LeufsTer25) c.980_986del c.5040_5046del c.2035_2041del (p.Phe679LeufsTer25) c.7969_7975del (p.Phe2657LeufsTer25) c.896-29847_896-29841del c.2800_2806del (p.Phe934LeufsTer25) c.7843_7849del (p.Phe2615LeufsTer25) n.1772_1778del c.7972_7978del (p.Phe2658LeufsTer25)	ClinVar
2	g.73489927C>A	CA347266656	ALMS1	c.7587C>A (p.Asn2529Lys) c.979C>A c.5039C>A c.2034C>A (p.Asn678Lys) c.7968C>A (p.Asn2656Lys) c.896-29848C>A c.2799C>A (p.Asn933Lys) c.7842C>A (p.Asn2614Lys) n.1771C>A c.7971C>A (p.Asn2657Lys)
2	g.73489927C=	CA1260981220	ALMS1	c.7587C= (p.Asn2529=) c.979C= c.5039C= c.2034C= (p.Asn678=) c.7968C= (p.Asn2656=) c.896-29848C= c.2799C= (p.Asn933=) c.7842C= (p.Asn2614=) n.1771C= c.7971C= (p.Asn2657=)
2	g.73489927C>G	CA1714383	ALMS1	c.7587C>G (p.Asn2529Lys) c.979C>G c.5039C>G c.2034C>G (p.Asn678Lys) c.7968C>G (p.Asn2656Lys) c.896-29848C>G c.2799C>G (p.Asn933Lys) c.7842C>G (p.Asn2614Lys) n.1771C>G c.7971C>G (p.Asn2657Lys)	dbSNP ExAC gnomAD v2
2	g.73489927C>T	CA427000712	ALMS1	c.7587C>T (p.Asn2529=) c.979C>T c.5039C>T c.2034C>T (p.Asn678=) c.7968C>T (p.Asn2656=) c.896-29848C>T c.2799C>T (p.Asn933=) c.7842C>T (p.Asn2614=) n.1771C>T c.7971C>T (p.Asn2657=)
2	g.73489928T>A	CA347266660	ALMS1	c.7588T>A (p.Phe2530Ile) c.980T>A c.5040T>A c.2035T>A (p.Phe679Ile) c.7969T>A (p.Phe2657Ile) c.896-29847T>A c.2800T>A (p.Phe934Ile) c.7843T>A (p.Phe2615Ile) n.1772T>A c.7972T>A (p.Phe2658Ile)
2	g.73489928T>C	CA347266663	ALMS1	c.7588T>C (p.Phe2530Leu) c.980T>C c.5040T>C c.2035T>C (p.Phe679Leu) c.7969T>C (p.Phe2657Leu) c.896-29847T>C c.2800T>C (p.Phe934Leu) c.7843T>C (p.Phe2615Leu) n.1772T>C c.7972T>C (p.Phe2658Leu)	ClinVar dbSNP
2	g.73489928T>G	CA347266665	ALMS1	c.7588T>G (p.Phe2530Val) c.980T>G c.5040T>G c.2035T>G (p.Phe679Val) c.7969T>G (p.Phe2657Val) c.896-29847T>G c.2800T>G (p.Phe934Val) c.7843T>G (p.Phe2615Val) n.1772T>G c.7972T>G (p.Phe2658Val)
2	g.73489928T=	CA1260981221	ALMS1	c.7588T= (p.Phe2530=) c.980T= c.5040T= c.2035T= (p.Phe679=) c.7969T= (p.Phe2657=) c.896-29847T= c.2800T= (p.Phe934=) c.7843T= (p.Phe2615=) n.1772T= c.7972T= (p.Phe2658=)
2	g.73489929T>A	CA347266667	ALMS1	c.7589T>A (p.Phe2530Tyr) c.981T>A c.5041T>A c.2036T>A (p.Phe679Tyr) c.7970T>A (p.Phe2657Tyr) c.896-29846T>A c.2801T>A (p.Phe934Tyr) c.7844T>A (p.Phe2615Tyr) n.1773T>A c.7973T>A (p.Phe2658Tyr)
2	g.73489929T>C	CA347266669	ALMS1	c.7589T>C (p.Phe2530Ser) c.981T>C c.5041T>C c.2036T>C (p.Phe679Ser) c.7970T>C (p.Phe2657Ser) c.896-29846T>C c.2801T>C (p.Phe934Ser) c.7844T>C (p.Phe2615Ser) n.1773T>C c.7973T>C (p.Phe2658Ser)
2	g.73489929T>G	CA347266672	ALMS1	c.7589T>G (p.Phe2530Cys) c.981T>G c.5041T>G c.2036T>G (p.Phe679Cys) c.7970T>G (p.Phe2657Cys) c.896-29846T>G c.2801T>G (p.Phe934Cys) c.7844T>G (p.Phe2615Cys) n.1773T>G c.7973T>G (p.Phe2658Cys)
2	g.73489930T>A	CA347266675	ALMS1	c.7590T>A (p.Phe2530Leu) c.982T>A c.5042T>A c.2037T>A (p.Phe679Leu) c.7971T>A (p.Phe2657Leu) c.896-29845T>A c.2802T>A (p.Phe934Leu) c.7845T>A (p.Phe2615Leu) n.1774T>A c.7974T>A (p.Phe2658Leu)
2	g.73489930T>C	CA427000713	ALMS1	c.7590T>C (p.Phe2530=) c.982T>C c.5042T>C c.2037T>C (p.Phe679=) c.7971T>C (p.Phe2657=) c.896-29845T>C c.2802T>C (p.Phe934=) c.7845T>C (p.Phe2615=) n.1774T>C c.7974T>C (p.Phe2658=)	ClinVar
2	g.73489930T>G	CA347266676	ALMS1	c.7590T>G (p.Phe2530Leu) c.982T>G c.5042T>G c.2037T>G (p.Phe679Leu) c.7971T>G (p.Phe2657Leu) c.896-29845T>G c.2802T>G (p.Phe934Leu) c.7845T>G (p.Phe2615Leu) n.1774T>G c.7974T>G (p.Phe2658Leu)
2	g.73489931A>C	CA347266678	ALMS1	c.7591A>C (p.Ile2531Leu) c.983A>C c.5043A>C c.2038A>C (p.Ile680Leu) c.7972A>C (p.Ile2658Leu) c.896-29844A>C c.2803A>C (p.Ile935Leu) c.7846A>C (p.Ile2616Leu) n.1775A>C c.7975A>C (p.Ile2659Leu)	gnomAD v4
2	g.73489931A>G	CA347266679	ALMS1	c.7591A>G (p.Ile2531Val) c.983A>G c.5043A>G c.2038A>G (p.Ile680Val) c.7972A>G (p.Ile2658Val) c.896-29844A>G c.2803A>G (p.Ile935Val) c.7846A>G (p.Ile2616Val) n.1775A>G c.7975A>G (p.Ile2659Val)	gnomAD v4
2	g.73489931A>T	CA347266682	ALMS1	c.7591A>T (p.Ile2531Leu) c.983A>T c.5043A>T c.2038A>T (p.Ile680Leu) c.7972A>T (p.Ile2658Leu) c.896-29844A>T c.2803A>T (p.Ile935Leu) c.7846A>T (p.Ile2616Leu) n.1775A>T c.7975A>T (p.Ile2659Leu)
2	g.73489932T>A	CA347266691	ALMS1	c.7592T>A (p.Ile2531Lys) c.984T>A c.5044T>A c.2039T>A (p.Ile680Lys) c.7973T>A (p.Ile2658Lys) c.896-29843T>A c.2804T>A (p.Ile935Lys) c.7847T>A (p.Ile2616Lys) n.1776T>A c.7976T>A (p.Ile2659Lys)
2	g.73489932T>C	CA347266686	ALMS1	c.7592T>C (p.Ile2531Thr) c.984T>C c.5044T>C c.2039T>C (p.Ile680Thr) c.7973T>C (p.Ile2658Thr) c.896-29843T>C c.2804T>C (p.Ile935Thr) c.7847T>C (p.Ile2616Thr) n.1776T>C c.7976T>C (p.Ile2659Thr)
2	g.73489932T>G	CA347266685	ALMS1	c.7592T>G (p.Ile2531Arg) c.984T>G c.5044T>G c.2039T>G (p.Ile680Arg) c.7973T>G (p.Ile2658Arg) c.896-29843T>G c.2804T>G (p.Ile935Arg) c.7847T>G (p.Ile2616Arg) n.1776T>G c.7976T>G (p.Ile2659Arg)

Number of alleles fetched