Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73489710del	CA2697548275	ALMS1	c.7370del (p.Lys2457ArgfsTer7) c.762del c.4822del c.1817del (p.Lys606ArgfsTer7) c.7751del (p.Lys2584ArgfsTer7) c.896-30065del c.2582del (p.Lys861ArgfsTer7) c.7625del (p.Lys2542ArgfsTer7) n.1554del c.7754del (p.Lys2585ArgfsTer7)	ClinVar
2	g.73489710A>C	CA347263995	ALMS1	c.7370A>C (p.Lys2457Thr) c.762A>C c.4822A>C c.1817A>C (p.Lys606Thr) c.7751A>C (p.Lys2584Thr) c.896-30065A>C c.2582A>C (p.Lys861Thr) c.7625A>C (p.Lys2542Thr) n.1554A>C c.7754A>C (p.Lys2585Thr)
2	g.73489710A>G	CA347263994	ALMS1	c.7370A>G (p.Lys2457Arg) c.762A>G c.4822A>G c.1817A>G (p.Lys606Arg) c.7751A>G (p.Lys2584Arg) c.896-30065A>G c.2582A>G (p.Lys861Arg) c.7625A>G (p.Lys2542Arg) n.1554A>G c.7754A>G (p.Lys2585Arg)
2	g.73489710A>T	CA347263993	ALMS1	c.7370A>T (p.Lys2457Met) c.762A>T c.4822A>T c.1817A>T (p.Lys606Met) c.7751A>T (p.Lys2584Met) c.896-30065A>T c.2582A>T (p.Lys861Met) c.7625A>T (p.Lys2542Met) n.1554A>T c.7754A>T (p.Lys2585Met)
2	g.73489711G>A	CA1714339	ALMS1	c.7371G>A (p.Lys2457=) c.763G>A c.4823G>A c.1818G>A (p.Lys606=) c.7752G>A (p.Lys2584=) c.896-30064G>A c.2583G>A (p.Lys861=) c.7626G>A (p.Lys2542=) n.1555G>A c.7755G>A (p.Lys2585=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489711G>C	CA1714340	ALMS1	c.7371G>C (p.Lys2457Asn) c.763G>C c.4823G>C c.1818G>C (p.Lys606Asn) c.7752G>C (p.Lys2584Asn) c.896-30064G>C c.2583G>C (p.Lys861Asn) c.7626G>C (p.Lys2542Asn) n.1555G>C c.7755G>C (p.Lys2585Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489711G=	CA1260981116	ALMS1	c.7371G= (p.Lys2457=) c.763G= c.4823G= c.1818G= (p.Lys606=) c.7752G= (p.Lys2584=) c.896-30064G= c.2583G= (p.Lys861=) c.7626G= (p.Lys2542=) n.1555G= c.7755G= (p.Lys2585=)
2	g.73489711G>T	CA347263996	ALMS1	c.7371G>T (p.Lys2457Asn) c.763G>T c.4823G>T c.1818G>T (p.Lys606Asn) c.7752G>T (p.Lys2584Asn) c.896-30064G>T c.2583G>T (p.Lys861Asn) c.7626G>T (p.Lys2542Asn) n.1555G>T c.7755G>T (p.Lys2585Asn)
2	g.73489712G>A	CA347263997	ALMS1	c.7372G>A (p.Gly2458Arg) c.764G>A c.4824G>A c.1819G>A (p.Gly607Arg) c.7753G>A (p.Gly2585Arg) c.896-30063G>A c.2584G>A (p.Gly862Arg) c.7627G>A (p.Gly2543Arg) n.1556G>A c.7756G>A (p.Gly2586Arg)
2	g.73489712G>C	CA347263998	ALMS1	c.7372G>C (p.Gly2458Arg) c.764G>C c.4824G>C c.1819G>C (p.Gly607Arg) c.7753G>C (p.Gly2585Arg) c.896-30063G>C c.2584G>C (p.Gly862Arg) c.7627G>C (p.Gly2543Arg) n.1556G>C c.7756G>C (p.Gly2586Arg)	ClinVar dbSNP gnomAD v4
2	g.73489712G=	CA1260981117	ALMS1	c.7372G= (p.Gly2458=) c.764G= c.4824G= c.1819G= (p.Gly607=) c.7753G= (p.Gly2585=) c.896-30063G= c.2584G= (p.Gly862=) c.7627G= (p.Gly2543=) n.1556G= c.7756G= (p.Gly2586=)
2	g.73489712G>T	CA347263999	ALMS1	c.7372G>T (p.Gly2458Ter) c.764G>T c.4824G>T c.1819G>T (p.Gly607Ter) c.7753G>T (p.Gly2585Ter) c.896-30063G>T c.2584G>T (p.Gly862Ter) c.7627G>T (p.Gly2543Ter) n.1556G>T c.7756G>T (p.Gly2586Ter)
2	g.73489713G>A	CA347264000	ALMS1	c.7373G>A (p.Gly2458Glu) c.765G>A c.4825G>A c.1820G>A (p.Gly607Glu) c.7754G>A (p.Gly2585Glu) c.896-30062G>A c.2585G>A (p.Gly862Glu) c.7628G>A (p.Gly2543Glu) n.1557G>A c.7757G>A (p.Gly2586Glu)
2	g.73489713G>C	CA1714341	ALMS1	c.7373G>C (p.Gly2458Ala) c.765G>C c.4825G>C c.1820G>C (p.Gly607Ala) c.7754G>C (p.Gly2585Ala) c.896-30062G>C c.2585G>C (p.Gly862Ala) c.7628G>C (p.Gly2543Ala) n.1557G>C c.7757G>C (p.Gly2586Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489713G=	CA1260981118	ALMS1	c.7373G= (p.Gly2458=) c.765G= c.4825G= c.1820G= (p.Gly607=) c.7754G= (p.Gly2585=) c.896-30062G= c.2585G= (p.Gly862=) c.7628G= (p.Gly2543=) n.1557G= c.7757G= (p.Gly2586=)
2	g.73489713G>T	CA347264001	ALMS1	c.7373G>T (p.Gly2458Val) c.765G>T c.4825G>T c.1820G>T (p.Gly607Val) c.7754G>T (p.Gly2585Val) c.896-30062G>T c.2585G>T (p.Gly862Val) c.7628G>T (p.Gly2543Val) n.1557G>T c.7757G>T (p.Gly2586Val)
2	g.73489714A=	CA1260981120	ALMS1	c.7374A= (p.Gly2458=) c.766A= c.4826A= c.1821A= (p.Gly607=) c.7755A= (p.Gly2585=) c.896-30061A= c.2586A= (p.Gly862=) c.7629A= (p.Gly2543=) n.1558A= c.7758A= (p.Gly2586=)
2	g.73489714A>C	CA426765494	ALMS1	c.7374A>C (p.Gly2458=) c.766A>C c.4826A>C c.1821A>C (p.Gly607=) c.7755A>C (p.Gly2585=) c.896-30061A>C c.2586A>C (p.Gly862=) c.7629A>C (p.Gly2543=) n.1558A>C c.7758A>C (p.Gly2586=)
2	g.73489714A>G	CA426765488	ALMS1	c.7374A>G (p.Gly2458=) c.766A>G c.4826A>G c.1821A>G (p.Gly607=) c.7755A>G (p.Gly2585=) c.896-30061A>G c.2586A>G (p.Gly862=) c.7629A>G (p.Gly2543=) n.1558A>G c.7758A>G (p.Gly2586=)	ClinVar dbSNP
2	g.73489714A>T	CA426765486	ALMS1	c.7374A>T (p.Gly2458=) c.766A>T c.4826A>T c.1821A>T (p.Gly607=) c.7755A>T (p.Gly2585=) c.896-30061A>T c.2586A>T (p.Gly862=) c.7629A>T (p.Gly2543=) n.1558A>T c.7758A>T (p.Gly2586=)	gnomAD v4
2	g.73489714_73489716delinsATG	CA1260981119	ALMS1	c.7374_7376delinsATG (p.Gly2458=) c.766_768delinsATG c.4826_4828delinsATG c.1821_1823delinsATG (p.Gly607=) c.7755_7757delinsATG (p.Gly2585=) c.896-30061_896-30059delinsATG c.2586_2588delinsATG (p.Gly862=) c.7629_7631delinsATG (p.Gly2543=) n.1558_1560delinsATG c.7758_7760delinsATG (p.Gly2586=)
2	g.73489715T>A	CA347264002	ALMS1	c.7375T>A (p.Cys2459Ser) c.767T>A c.4827T>A c.1822T>A (p.Cys608Ser) c.7756T>A (p.Cys2586Ser) c.896-30060T>A c.2587T>A (p.Cys863Ser) c.7630T>A (p.Cys2544Ser) n.1559T>A c.7759T>A (p.Cys2587Ser)	ClinVar dbSNP
2	g.73489715T>C	CA347264003	ALMS1	c.7375T>C (p.Cys2459Arg) c.767T>C c.4827T>C c.1822T>C (p.Cys608Arg) c.7756T>C (p.Cys2586Arg) c.896-30060T>C c.2587T>C (p.Cys863Arg) c.7630T>C (p.Cys2544Arg) n.1559T>C c.7759T>C (p.Cys2587Arg)
2	g.73489715T>G	CA347264004	ALMS1	c.7375T>G (p.Cys2459Gly) c.767T>G c.4827T>G c.1822T>G (p.Cys608Gly) c.7756T>G (p.Cys2586Gly) c.896-30060T>G c.2587T>G (p.Cys863Gly) c.7630T>G (p.Cys2544Gly) n.1559T>G c.7759T>G (p.Cys2587Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.73489715T=	CA1260981121	ALMS1	c.7375T= (p.Cys2459=) c.767T= c.4827T= c.1822T= (p.Cys608=) c.7756T= (p.Cys2586=) c.896-30060T= c.2587T= (p.Cys863=) c.7630T= (p.Cys2544=) n.1559T= c.7759T= (p.Cys2587=)
2	g.73489716_73489717del	CA534125620	ALMS1	c.7376_7377del (p.Cys2459PhefsTer7) c.768_769del c.4828_4829del c.1823_1824del (p.Cys608PhefsTer7) c.7757_7758del (p.Cys2586PhefsTer7) c.896-30059_896-30058del c.2588_2589del (p.Cys863PhefsTer7) c.7631_7632del (p.Cys2544PhefsTer7) n.1560_1561del c.7760_7761del (p.Cys2587PhefsTer7)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489716del	CA2586969422	ALMS1	c.7376del (p.Cys2459PhefsTer5) c.768del c.4828del c.1823del (p.Cys608PhefsTer5) c.7757del (p.Cys2586PhefsTer5) c.896-30059del c.2588del (p.Cys863PhefsTer5) c.7631del (p.Cys2544PhefsTer5) n.1560del c.7760del (p.Cys2587PhefsTer5)
2	g.73489716G>A	CA347264005	ALMS1	c.7376G>A (p.Cys2459Tyr) c.768G>A c.4828G>A c.1823G>A (p.Cys608Tyr) c.7757G>A (p.Cys2586Tyr) c.896-30059G>A c.2588G>A (p.Cys863Tyr) c.7631G>A (p.Cys2544Tyr) n.1560G>A c.7760G>A (p.Cys2587Tyr)	dbSNP
2	g.73489716G>C	CA347264006	ALMS1	c.7376G>C (p.Cys2459Ser) c.768G>C c.4828G>C c.1823G>C (p.Cys608Ser) c.7757G>C (p.Cys2586Ser) c.896-30059G>C c.2588G>C (p.Cys863Ser) c.7631G>C (p.Cys2544Ser) n.1560G>C c.7760G>C (p.Cys2587Ser)
2	g.73489716G=	CA1260981122	ALMS1	c.7376G= (p.Cys2459=) c.768G= c.4828G= c.1823G= (p.Cys608=) c.7757G= (p.Cys2586=) c.896-30059G= c.2588G= (p.Cys863=) c.7631G= (p.Cys2544=) n.1560G= c.7760G= (p.Cys2587=)
2	g.73489716G>T	CA347264007	ALMS1	c.7376G>T (p.Cys2459Phe) c.768G>T c.4828G>T c.1823G>T (p.Cys608Phe) c.7757G>T (p.Cys2586Phe) c.896-30059G>T c.2588G>T (p.Cys863Phe) c.7631G>T (p.Cys2544Phe) n.1560G>T c.7760G>T (p.Cys2587Phe)
2	g.73489717T>A	CA347264008	ALMS1	c.7377T>A (p.Cys2459Ter) c.769T>A c.4829T>A c.1824T>A (p.Cys608Ter) c.7758T>A (p.Cys2586Ter) c.896-30058T>A c.2589T>A (p.Cys863Ter) c.7632T>A (p.Cys2544Ter) n.1561T>A c.7761T>A (p.Cys2587Ter)
2	g.73489717T>C	CA426765514	ALMS1	c.7377T>C (p.Cys2459=) c.769T>C c.4829T>C c.1824T>C (p.Cys608=) c.7758T>C (p.Cys2586=) c.896-30058T>C c.2589T>C (p.Cys863=) c.7632T>C (p.Cys2544=) n.1561T>C c.7761T>C (p.Cys2587=)
2	g.73489717T>G	CA347264009	ALMS1	c.7377T>G (p.Cys2459Trp) c.769T>G c.4829T>G c.1824T>G (p.Cys608Trp) c.7758T>G (p.Cys2586Trp) c.896-30058T>G c.2589T>G (p.Cys863Trp) c.7632T>G (p.Cys2544Trp) n.1561T>G c.7761T>G (p.Cys2587Trp)
2	g.73489718T>A	CA347264010	ALMS1	c.7378T>A (p.Phe2460Ile) c.770T>A c.4830T>A c.1825T>A (p.Phe609Ile) c.7759T>A (p.Phe2587Ile) c.896-30057T>A c.2590T>A (p.Phe864Ile) c.7633T>A (p.Phe2545Ile) n.1562T>A c.7762T>A (p.Phe2588Ile)
2	g.73489718T>C	CA347264011	ALMS1	c.7378T>C (p.Phe2460Leu) c.770T>C c.4830T>C c.1825T>C (p.Phe609Leu) c.7759T>C (p.Phe2587Leu) c.896-30057T>C c.2590T>C (p.Phe864Leu) c.7633T>C (p.Phe2545Leu) n.1562T>C c.7762T>C (p.Phe2588Leu)
2	g.73489718T>G	CA347264012	ALMS1	c.7378T>G (p.Phe2460Val) c.770T>G c.4830T>G c.1825T>G (p.Phe609Val) c.7759T>G (p.Phe2587Val) c.896-30057T>G c.2590T>G (p.Phe864Val) c.7633T>G (p.Phe2545Val) n.1562T>G c.7762T>G (p.Phe2588Val)
2	g.73489719T>A	CA1714342	ALMS1	c.7379T>A (p.Phe2460Tyr) c.771T>A c.4831T>A c.1826T>A (p.Phe609Tyr) c.7760T>A (p.Phe2587Tyr) c.896-30056T>A c.2591T>A (p.Phe864Tyr) c.7634T>A (p.Phe2545Tyr) n.1563T>A c.7763T>A (p.Phe2588Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489719T>C	CA347264014	ALMS1	c.7379T>C (p.Phe2460Ser) c.771T>C c.4831T>C c.1826T>C (p.Phe609Ser) c.7760T>C (p.Phe2587Ser) c.896-30056T>C c.2591T>C (p.Phe864Ser) c.7634T>C (p.Phe2545Ser) n.1563T>C c.7763T>C (p.Phe2588Ser)
2	g.73489719T>G	CA347264013	ALMS1	c.7379T>G (p.Phe2460Cys) c.771T>G c.4831T>G c.1826T>G (p.Phe609Cys) c.7760T>G (p.Phe2587Cys) c.896-30056T>G c.2591T>G (p.Phe864Cys) c.7634T>G (p.Phe2545Cys) n.1563T>G c.7763T>G (p.Phe2588Cys)
2	g.73489719T=	CA1260981123	ALMS1	c.7379T= (p.Phe2460=) c.771T= c.4831T= c.1826T= (p.Phe609=) c.7760T= (p.Phe2587=) c.896-30056T= c.2591T= (p.Phe864=) c.7634T= (p.Phe2545=) n.1563T= c.7763T= (p.Phe2588=)
2	g.73489720C>A	CA347264015	ALMS1	c.7380C>A (p.Phe2460Leu) c.772C>A c.4832C>A c.1827C>A (p.Phe609Leu) c.7761C>A (p.Phe2587Leu) c.896-30055C>A c.2592C>A (p.Phe864Leu) c.7635C>A (p.Phe2545Leu) n.1564C>A c.7764C>A (p.Phe2588Leu)
2	g.73489720C=	CA1260981124	ALMS1	c.7380C= (p.Phe2460=) c.772C= c.4832C= c.1827C= (p.Phe609=) c.7761C= (p.Phe2587=) c.896-30055C= c.2592C= (p.Phe864=) c.7635C= (p.Phe2545=) n.1564C= c.7764C= (p.Phe2588=)
2	g.73489720C>G	CA347264016	ALMS1	c.7380C>G (p.Phe2460Leu) c.772C>G c.4832C>G c.1827C>G (p.Phe609Leu) c.7761C>G (p.Phe2587Leu) c.896-30055C>G c.2592C>G (p.Phe864Leu) c.7635C>G (p.Phe2545Leu) n.1564C>G c.7764C>G (p.Phe2588Leu)
2	g.73489720C>T	CA426765531	ALMS1	c.7380C>T (p.Phe2460=) c.772C>T c.4832C>T c.1827C>T (p.Phe609=) c.7761C>T (p.Phe2587=) c.896-30055C>T c.2592C>T (p.Phe864=) c.7635C>T (p.Phe2545=) n.1564C>T c.7764C>T (p.Phe2588=)	ClinVar dbSNP gnomAD v4
2	g.73489721C>A	CA426765533	ALMS1	c.7381C>A (p.Arg2461=) c.773C>A c.4833C>A c.1828C>A (p.Arg610=) c.7762C>A (p.Arg2588=) c.896-30054C>A c.2593C>A (p.Arg865=) c.7636C>A (p.Arg2546=) n.1565C>A c.7765C>A (p.Arg2589=)
2	g.73489721C=	CA1260981125	ALMS1	c.7381C= (p.Arg2461=) c.773C= c.4833C= c.1828C= (p.Arg610=) c.7762C= (p.Arg2588=) c.896-30054C= c.2593C= (p.Arg865=) c.7636C= (p.Arg2546=) n.1565C= c.7765C= (p.Arg2589=)
2	g.73489721C>G	CA347264017	ALMS1	c.7381C>G (p.Arg2461Gly) c.773C>G c.4833C>G c.1828C>G (p.Arg610Gly) c.7762C>G (p.Arg2588Gly) c.896-30054C>G c.2593C>G (p.Arg865Gly) c.7636C>G (p.Arg2546Gly) n.1565C>G c.7765C>G (p.Arg2589Gly)
2	g.73489721C>T	CA1714343	ALMS1	c.7381C>T (p.Arg2461Trp) c.773C>T c.4833C>T c.1828C>T (p.Arg610Trp) c.7762C>T (p.Arg2588Trp) c.896-30054C>T c.2593C>T (p.Arg865Trp) c.7636C>T (p.Arg2546Trp) n.1565C>T c.7765C>T (p.Arg2589Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489722G>A	CA1714344	ALMS1	c.7382G>A (p.Arg2461Gln) c.774G>A c.4834G>A c.1829G>A (p.Arg610Gln) c.7763G>A (p.Arg2588Gln) c.896-30053G>A c.2594G>A (p.Arg865Gln) c.7637G>A (p.Arg2546Gln) n.1566G>A c.7766G>A (p.Arg2589Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489722G>C	CA347264018	ALMS1	c.7382G>C (p.Arg2461Pro) c.774G>C c.4834G>C c.1829G>C (p.Arg610Pro) c.7763G>C (p.Arg2588Pro) c.896-30053G>C c.2594G>C (p.Arg865Pro) c.7637G>C (p.Arg2546Pro) n.1566G>C c.7766G>C (p.Arg2589Pro)
2	g.73489722G=	CA1260981126	ALMS1	c.7382G= (p.Arg2461=) c.774G= c.4834G= c.1829G= (p.Arg610=) c.7763G= (p.Arg2588=) c.896-30053G= c.2594G= (p.Arg865=) c.7637G= (p.Arg2546=) n.1566G= c.7766G= (p.Arg2589=)
2	g.73489722G>T	CA347264019	ALMS1	c.7382G>T (p.Arg2461Leu) c.774G>T c.4834G>T c.1829G>T (p.Arg610Leu) c.7763G>T (p.Arg2588Leu) c.896-30053G>T c.2594G>T (p.Arg865Leu) c.7637G>T (p.Arg2546Leu) n.1566G>T c.7766G>T (p.Arg2589Leu)
2	g.73489723G>A	CA1714345	ALMS1	c.7383G>A (p.Arg2461=) c.775G>A c.4835G>A c.1830G>A (p.Arg610=) c.7764G>A (p.Arg2588=) c.896-30052G>A c.2595G>A (p.Arg865=) c.7638G>A (p.Arg2546=) n.1567G>A c.7767G>A (p.Arg2589=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489723G>C	CA426765540	ALMS1	c.7383G>C (p.Arg2461=) c.775G>C c.4835G>C c.1830G>C (p.Arg610=) c.7764G>C (p.Arg2588=) c.896-30052G>C c.2595G>C (p.Arg865=) c.7638G>C (p.Arg2546=) n.1567G>C c.7767G>C (p.Arg2589=)
2	g.73489723G=	CA1260981127	ALMS1	c.7383G= (p.Arg2461=) c.775G= c.4835G= c.1830G= (p.Arg610=) c.7764G= (p.Arg2588=) c.896-30052G= c.2595G= (p.Arg865=) c.7638G= (p.Arg2546=) n.1567G= c.7767G= (p.Arg2589=)
2	g.73489723G>T	CA426765543	ALMS1	c.7383G>T (p.Arg2461=) c.775G>T c.4835G>T c.1830G>T (p.Arg610=) c.7764G>T (p.Arg2588=) c.896-30052G>T c.2595G>T (p.Arg865=) c.7638G>T (p.Arg2546=) n.1567G>T c.7767G>T (p.Arg2589=)
2	g.73489724A>C	CA347264020	ALMS1	c.7384A>C (p.Thr2462Pro) c.776A>C c.4836A>C c.1831A>C (p.Thr611Pro) c.7765A>C (p.Thr2589Pro) c.896-30051A>C c.2596A>C (p.Thr866Pro) c.7639A>C (p.Thr2547Pro) n.1568A>C c.7768A>C (p.Thr2590Pro)
2	g.73489724A>G	CA347264021	ALMS1	c.7384A>G (p.Thr2462Ala) c.776A>G c.4836A>G c.1831A>G (p.Thr611Ala) c.7765A>G (p.Thr2589Ala) c.896-30051A>G c.2596A>G (p.Thr866Ala) c.7639A>G (p.Thr2547Ala) n.1568A>G c.7768A>G (p.Thr2590Ala)	gnomAD v4
2	g.73489724A>T	CA347264022	ALMS1	c.7384A>T (p.Thr2462Ser) c.776A>T c.4836A>T c.1831A>T (p.Thr611Ser) c.7765A>T (p.Thr2589Ser) c.896-30051A>T c.2596A>T (p.Thr866Ser) c.7639A>T (p.Thr2547Ser) n.1568A>T c.7768A>T (p.Thr2590Ser)
2	g.73489725C>A	CA347264023	ALMS1	c.7385C>A (p.Thr2462Asn) c.777C>A c.4837C>A c.1832C>A (p.Thr611Asn) c.7766C>A (p.Thr2589Asn) c.896-30050C>A c.2597C>A (p.Thr866Asn) c.7640C>A (p.Thr2547Asn) n.1569C>A c.7769C>A (p.Thr2590Asn)
2	g.73489725C>G	CA347264024	ALMS1	c.7385C>G (p.Thr2462Ser) c.777C>G c.4837C>G c.1832C>G (p.Thr611Ser) c.7766C>G (p.Thr2589Ser) c.896-30050C>G c.2597C>G (p.Thr866Ser) c.7640C>G (p.Thr2547Ser) n.1569C>G c.7769C>G (p.Thr2590Ser)
2	g.73489725C>T	CA347264025	ALMS1	c.7385C>T (p.Thr2462Ile) c.777C>T c.4837C>T c.1832C>T (p.Thr611Ile) c.7766C>T (p.Thr2589Ile) c.896-30050C>T c.2597C>T (p.Thr866Ile) c.7640C>T (p.Thr2547Ile) n.1569C>T c.7769C>T (p.Thr2590Ile)
2	g.73489726T>A	CA426765569	ALMS1	c.7386T>A (p.Thr2462=) c.778T>A c.4838T>A c.1833T>A (p.Thr611=) c.7767T>A (p.Thr2589=) c.896-30049T>A c.2598T>A (p.Thr866=) c.7641T>A (p.Thr2547=) n.1570T>A c.7770T>A (p.Thr2590=)
2	g.73489726T>C	CA426765570	ALMS1	c.7386T>C (p.Thr2462=) c.778T>C c.4838T>C c.1833T>C (p.Thr611=) c.7767T>C (p.Thr2589=) c.896-30049T>C c.2598T>C (p.Thr866=) c.7641T>C (p.Thr2547=) n.1570T>C c.7770T>C (p.Thr2590=)
2	g.73489726T>G	CA426765572	ALMS1	c.7386T>G (p.Thr2462=) c.778T>G c.4838T>G c.1833T>G (p.Thr611=) c.7767T>G (p.Thr2589=) c.896-30049T>G c.2598T>G (p.Thr866=) c.7641T>G (p.Thr2547=) n.1570T>G c.7770T>G (p.Thr2590=)
2	g.73489727C>A	CA347264026	ALMS1	c.7387C>A (p.Leu2463Ile) c.779C>A c.4839C>A c.1834C>A (p.Leu612Ile) c.7768C>A (p.Leu2590Ile) c.896-30048C>A c.2599C>A (p.Leu867Ile) c.7642C>A (p.Leu2548Ile) n.1571C>A c.7771C>A (p.Leu2591Ile)
2	g.73489727C=	CA1260981128	ALMS1	c.7387C= (p.Leu2463=) c.779C= c.4839C= c.1834C= (p.Leu612=) c.7768C= (p.Leu2590=) c.896-30048C= c.2599C= (p.Leu867=) c.7642C= (p.Leu2548=) n.1571C= c.7771C= (p.Leu2591=)
2	g.73489727C>G	CA1714346	ALMS1	c.7387C>G (p.Leu2463Val) c.779C>G c.4839C>G c.1834C>G (p.Leu612Val) c.7768C>G (p.Leu2590Val) c.896-30048C>G c.2599C>G (p.Leu867Val) c.7642C>G (p.Leu2548Val) n.1571C>G c.7771C>G (p.Leu2591Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489727C>T	CA426765578	ALMS1	c.7387C>T (p.Leu2463=) c.779C>T c.4839C>T c.1834C>T (p.Leu612=) c.7768C>T (p.Leu2590=) c.896-30048C>T c.2599C>T (p.Leu867=) c.7642C>T (p.Leu2548=) n.1571C>T c.7771C>T (p.Leu2591=)
2	g.73489727_73489728insA	CA2499306990	ALMS1	c.7387_7388insA (p.Leu2463HisfsTer4) c.779_780insA c.4839_4840insA c.1834_1835insA (p.Leu612HisfsTer4) c.7768_7769insA (p.Leu2590HisfsTer4) c.896-30048_896-30047insA c.2599_2600insA (p.Leu867HisfsTer4) c.7642_7643insA (p.Leu2548HisfsTer4) n.1571_1572insA c.7771_7772insA (p.Leu2591HisfsTer4)
2	g.73489728T>A	CA347264027	ALMS1	c.7388T>A (p.Leu2463Gln) c.780T>A c.4840T>A c.1835T>A (p.Leu612Gln) c.7769T>A (p.Leu2590Gln) c.896-30047T>A c.2600T>A (p.Leu867Gln) c.7643T>A (p.Leu2548Gln) n.1572T>A c.7772T>A (p.Leu2591Gln)
2	g.73489728T>C	CA347264028	ALMS1	c.7388T>C (p.Leu2463Pro) c.780T>C c.4840T>C c.1835T>C (p.Leu612Pro) c.7769T>C (p.Leu2590Pro) c.896-30047T>C c.2600T>C (p.Leu867Pro) c.7643T>C (p.Leu2548Pro) n.1572T>C c.7772T>C (p.Leu2591Pro)
2	g.73489728T>G	CA347264029	ALMS1	c.7388T>G (p.Leu2463Arg) c.780T>G c.4840T>G c.1835T>G (p.Leu612Arg) c.7769T>G (p.Leu2590Arg) c.896-30047T>G c.2600T>G (p.Leu867Arg) c.7643T>G (p.Leu2548Arg) n.1572T>G c.7772T>G (p.Leu2591Arg)
2	g.73489728dup	CA2586969425	ALMS1	c.7388dup (p.Thr2464AsnfsTer3) c.780dup c.4840dup c.1835dup (p.Thr613AsnfsTer3) c.7769dup (p.Thr2591AsnfsTer3) c.896-30047dup c.2600dup (p.Thr868AsnfsTer3) c.7643dup (p.Thr2549AsnfsTer3) n.1572dup c.7772dup (p.Thr2592AsnfsTer3)	ClinVar gnomAD v4
2	g.73489729A=	CA1260981129	ALMS1	c.7389A= (p.Leu2463=) c.781A= c.4841A= c.1836A= (p.Leu612=) c.7770A= (p.Leu2590=) c.896-30046A= c.2601A= (p.Leu867=) c.7644A= (p.Leu2548=) n.1573A= c.7773A= (p.Leu2591=)
2	g.73489729A>C	CA426765598	ALMS1	c.7389A>C (p.Leu2463=) c.781A>C c.4841A>C c.1836A>C (p.Leu612=) c.7770A>C (p.Leu2590=) c.896-30046A>C c.2601A>C (p.Leu867=) c.7644A>C (p.Leu2548=) n.1573A>C c.7773A>C (p.Leu2591=)	ClinVar
2	g.73489729A>G	CA1714347	ALMS1	c.7389A>G (p.Leu2463=) c.781A>G c.4841A>G c.1836A>G (p.Leu612=) c.7770A>G (p.Leu2590=) c.896-30046A>G c.2601A>G (p.Leu867=) c.7644A>G (p.Leu2548=) n.1573A>G c.7773A>G (p.Leu2591=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489729A>T	CA426765594	ALMS1	c.7389A>T (p.Leu2463=) c.781A>T c.4841A>T c.1836A>T (p.Leu612=) c.7770A>T (p.Leu2590=) c.896-30046A>T c.2601A>T (p.Leu867=) c.7644A>T (p.Leu2548=) n.1573A>T c.7773A>T (p.Leu2591=)
2	g.73489730A=	CA1260981130	ALMS1	c.7390A= (p.Thr2464=) c.782A= c.4842A= c.1837A= (p.Thr613=) c.7771A= (p.Thr2591=) c.896-30045A= c.2602A= (p.Thr868=) c.7645A= (p.Thr2549=) n.1574A= c.7774A= (p.Thr2592=)
2	g.73489730A>C	CA347264030	ALMS1	c.7390A>C (p.Thr2464Pro) c.782A>C c.4842A>C c.1837A>C (p.Thr613Pro) c.7771A>C (p.Thr2591Pro) c.896-30045A>C c.2602A>C (p.Thr868Pro) c.7645A>C (p.Thr2549Pro) n.1574A>C c.7774A>C (p.Thr2592Pro)
2	g.73489730A>G	CA347264031	ALMS1	c.7390A>G (p.Thr2464Ala) c.782A>G c.4842A>G c.1837A>G (p.Thr613Ala) c.7771A>G (p.Thr2591Ala) c.896-30045A>G c.2602A>G (p.Thr868Ala) c.7645A>G (p.Thr2549Ala) n.1574A>G c.7774A>G (p.Thr2592Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.73489730A>T	CA347264032	ALMS1	c.7390A>T (p.Thr2464Ser) c.782A>T c.4842A>T c.1837A>T (p.Thr613Ser) c.7771A>T (p.Thr2591Ser) c.896-30045A>T c.2602A>T (p.Thr868Ser) c.7645A>T (p.Thr2549Ser) n.1574A>T c.7774A>T (p.Thr2592Ser)
2	g.73489731C>A	CA347264033	ALMS1	c.7391C>A (p.Thr2464Asn) c.783C>A c.4843C>A c.1838C>A (p.Thr613Asn) c.7772C>A (p.Thr2591Asn) c.896-30044C>A c.2603C>A (p.Thr868Asn) c.7646C>A (p.Thr2549Asn) n.1575C>A c.7775C>A (p.Thr2592Asn)
2	g.73489731C>G	CA347264034	ALMS1	c.7391C>G (p.Thr2464Ser) c.783C>G c.4843C>G c.1838C>G (p.Thr613Ser) c.7772C>G (p.Thr2591Ser) c.896-30044C>G c.2603C>G (p.Thr868Ser) c.7646C>G (p.Thr2549Ser) n.1575C>G c.7775C>G (p.Thr2592Ser)	ClinVar dbSNP
2	g.73489731C>T	CA347264035	ALMS1	c.7391C>T (p.Thr2464Ile) c.783C>T c.4843C>T c.1838C>T (p.Thr613Ile) c.7772C>T (p.Thr2591Ile) c.896-30044C>T c.2603C>T (p.Thr868Ile) c.7646C>T (p.Thr2549Ile) n.1575C>T c.7775C>T (p.Thr2592Ile)
2	g.73489732T>A	CA426765612	ALMS1	c.7392T>A (p.Thr2464=) c.784T>A c.4844T>A c.1839T>A (p.Thr613=) c.7773T>A (p.Thr2591=) c.896-30043T>A c.2604T>A (p.Thr868=) c.7647T>A (p.Thr2549=) n.1576T>A c.7776T>A (p.Thr2592=)
2	g.73489732T>C	CA426765609	ALMS1	c.7392T>C (p.Thr2464=) c.784T>C c.4844T>C c.1839T>C (p.Thr613=) c.7773T>C (p.Thr2591=) c.896-30043T>C c.2604T>C (p.Thr868=) c.7647T>C (p.Thr2549=) n.1576T>C c.7776T>C (p.Thr2592=)
2	g.73489732T>G	CA426765608	ALMS1	c.7392T>G (p.Thr2464=) c.784T>G c.4844T>G c.1839T>G (p.Thr613=) c.7773T>G (p.Thr2591=) c.896-30043T>G c.2604T>G (p.Thr868=) c.7647T>G (p.Thr2549=) n.1576T>G c.7776T>G (p.Thr2592=)
2	g.73489733T>A	CA347264036	ALMS1	c.7393T>A (p.Ser2465Thr) c.785T>A c.4845T>A c.1840T>A (p.Ser614Thr) c.7774T>A (p.Ser2592Thr) c.896-30042T>A c.2605T>A (p.Ser869Thr) c.7648T>A (p.Ser2550Thr) n.1577T>A c.7777T>A (p.Ser2593Thr)
2	g.73489733T>C	CA347264037	ALMS1	c.7393T>C (p.Ser2465Pro) c.785T>C c.4845T>C c.1840T>C (p.Ser614Pro) c.7774T>C (p.Ser2592Pro) c.896-30042T>C c.2605T>C (p.Ser869Pro) c.7648T>C (p.Ser2550Pro) n.1577T>C c.7777T>C (p.Ser2593Pro)
2	g.73489733T>G	CA50377445	ALMS1	c.7393T>G (p.Ser2465Ala) c.785T>G c.4845T>G c.1840T>G (p.Ser614Ala) c.7774T>G (p.Ser2592Ala) c.896-30042T>G c.2605T>G (p.Ser869Ala) c.7648T>G (p.Ser2550Ala) n.1577T>G c.7777T>G (p.Ser2593Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489733T=	CA1260981131	ALMS1	c.7393T= (p.Ser2465=) c.785T= c.4845T= c.1840T= (p.Ser614=) c.7774T= (p.Ser2592=) c.896-30042T= c.2605T= (p.Ser869=) c.7648T= (p.Ser2550=) n.1577T= c.7777T= (p.Ser2593=)
2	g.73489734C>A	CA347264038	ALMS1	c.7394C>A (p.Ser2465Tyr) c.786C>A c.4846C>A c.1841C>A (p.Ser614Tyr) c.7775C>A (p.Ser2592Tyr) c.896-30041C>A c.2606C>A (p.Ser869Tyr) c.7649C>A (p.Ser2550Tyr) n.1578C>A c.7778C>A (p.Ser2593Tyr)
2	g.73489734C>G	CA347264040	ALMS1	c.7394C>G (p.Ser2465Cys) c.786C>G c.4846C>G c.1841C>G (p.Ser614Cys) c.7775C>G (p.Ser2592Cys) c.896-30041C>G c.2606C>G (p.Ser869Cys) c.7649C>G (p.Ser2550Cys) n.1578C>G c.7778C>G (p.Ser2593Cys)
2	g.73489734C>T	CA347264039	ALMS1	c.7394C>T (p.Ser2465Phe) c.786C>T c.4846C>T c.1841C>T (p.Ser614Phe) c.7775C>T (p.Ser2592Phe) c.896-30041C>T c.2606C>T (p.Ser869Phe) c.7649C>T (p.Ser2550Phe) n.1578C>T c.7778C>T (p.Ser2593Phe)
2	g.73489735T>A	CA426765621	ALMS1	c.7395T>A (p.Ser2465=) c.787T>A c.4847T>A c.1842T>A (p.Ser614=) c.7776T>A (p.Ser2592=) c.896-30040T>A c.2607T>A (p.Ser869=) c.7650T>A (p.Ser2550=) n.1579T>A c.7779T>A (p.Ser2593=)
2	g.73489735T>C	CA426765627	ALMS1	c.7395T>C (p.Ser2465=) c.787T>C c.4847T>C c.1842T>C (p.Ser614=) c.7776T>C (p.Ser2592=) c.896-30040T>C c.2607T>C (p.Ser869=) c.7650T>C (p.Ser2550=) n.1579T>C c.7779T>C (p.Ser2593=)
2	g.73489735T>G	CA426765625	ALMS1	c.7395T>G (p.Ser2465=) c.787T>G c.4847T>G c.1842T>G (p.Ser614=) c.7776T>G (p.Ser2592=) c.896-30040T>G c.2607T>G (p.Ser869=) c.7650T>G (p.Ser2550=) n.1579T>G c.7779T>G (p.Ser2593=)	dbSNP gnomAD v3 gnomAD v4
2	g.73489735T=	CA1260981132	ALMS1	c.7395T= (p.Ser2465=) c.787T= c.4847T= c.1842T= (p.Ser614=) c.7776T= (p.Ser2592=) c.896-30040T= c.2607T= (p.Ser869=) c.7650T= (p.Ser2550=) n.1579T= c.7779T= (p.Ser2593=)
2	g.73489736G>A	CA347264041	ALMS1	c.7396G>A (p.Glu2466Lys) c.788G>A c.4848G>A c.1843G>A (p.Glu615Lys) c.7777G>A (p.Glu2593Lys) c.896-30039G>A c.2608G>A (p.Glu870Lys) c.7651G>A (p.Glu2551Lys) n.1580G>A c.7780G>A (p.Glu2594Lys)
2	g.73489736G>C	CA347264042	ALMS1	c.7396G>C (p.Glu2466Gln) c.788G>C c.4848G>C c.1843G>C (p.Glu615Gln) c.7777G>C (p.Glu2593Gln) c.896-30039G>C c.2608G>C (p.Glu870Gln) c.7651G>C (p.Glu2551Gln) n.1580G>C c.7780G>C (p.Glu2594Gln)
2	g.73489736G>T	CA347264043	ALMS1	c.7396G>T (p.Glu2466Ter) c.788G>T c.4848G>T c.1843G>T (p.Glu615Ter) c.7777G>T (p.Glu2593Ter) c.896-30039G>T c.2608G>T (p.Glu870Ter) c.7651G>T (p.Glu2551Ter) n.1580G>T c.7780G>T (p.Glu2594Ter)	ClinVar
2	g.73489737A>C	CA347264044	ALMS1	c.7397A>C (p.Glu2466Ala) c.789A>C c.4849A>C c.1844A>C (p.Glu615Ala) c.7778A>C (p.Glu2593Ala) c.896-30038A>C c.2609A>C (p.Glu870Ala) c.7652A>C (p.Glu2551Ala) n.1581A>C c.7781A>C (p.Glu2594Ala)
2	g.73489737A>G	CA347264045	ALMS1	c.7397A>G (p.Glu2466Gly) c.789A>G c.4849A>G c.1844A>G (p.Glu615Gly) c.7778A>G (p.Glu2593Gly) c.896-30038A>G c.2609A>G (p.Glu870Gly) c.7652A>G (p.Glu2551Gly) n.1581A>G c.7781A>G (p.Glu2594Gly)
2	g.73489737A>T	CA347264046	ALMS1	c.7397A>T (p.Glu2466Val) c.789A>T c.4849A>T c.1844A>T (p.Glu615Val) c.7778A>T (p.Glu2593Val) c.896-30038A>T c.2609A>T (p.Glu870Val) c.7652A>T (p.Glu2551Val) n.1581A>T c.7781A>T (p.Glu2594Val)
2	g.73489738A>C	CA347264047	ALMS1	c.7398A>C (p.Glu2466Asp) c.790A>C c.4850A>C c.1845A>C (p.Glu615Asp) c.7779A>C (p.Glu2593Asp) c.896-30037A>C c.2610A>C (p.Glu870Asp) c.7653A>C (p.Glu2551Asp) n.1582A>C c.7782A>C (p.Glu2594Asp)
2	g.73489738A>G	CA426765640	ALMS1	c.7398A>G (p.Glu2466=) c.790A>G c.4850A>G c.1845A>G (p.Glu615=) c.7779A>G (p.Glu2593=) c.896-30037A>G c.2610A>G (p.Glu870=) c.7653A>G (p.Glu2551=) n.1582A>G c.7782A>G (p.Glu2594=)	gnomAD v4
2	g.73489738A>T	CA347264048	ALMS1	c.7398A>T (p.Glu2466Asp) c.790A>T c.4850A>T c.1845A>T (p.Glu615Asp) c.7779A>T (p.Glu2593Asp) c.896-30037A>T c.2610A>T (p.Glu870Asp) c.7653A>T (p.Glu2551Asp) n.1582A>T c.7782A>T (p.Glu2594Asp)
2	g.73489739C>A	CA347264049	ALMS1	c.7399C>A (p.His2467Asn) c.791C>A c.4851C>A c.1846C>A (p.His616Asn) c.7780C>A (p.His2594Asn) c.896-30036C>A c.2611C>A (p.His871Asn) c.7654C>A (p.His2552Asn) n.1583C>A c.7783C>A (p.His2595Asn)
2	g.73489739C=	CA1260981133	ALMS1	c.7399C= (p.His2467=) c.791C= c.4851C= c.1846C= (p.His616=) c.7780C= (p.His2594=) c.896-30036C= c.2611C= (p.His871=) c.7654C= (p.His2552=) n.1583C= c.7783C= (p.His2595=)
2	g.73489739C>G	CA347264050	ALMS1	c.7399C>G (p.His2467Asp) c.791C>G c.4851C>G c.1846C>G (p.His616Asp) c.7780C>G (p.His2594Asp) c.896-30036C>G c.2611C>G (p.His871Asp) c.7654C>G (p.His2552Asp) n.1583C>G c.7783C>G (p.His2595Asp)
2	g.73489739C>T	CA1714348	ALMS1	c.7399C>T (p.His2467Tyr) c.791C>T c.4851C>T c.1846C>T (p.His616Tyr) c.7780C>T (p.His2594Tyr) c.896-30036C>T c.2611C>T (p.His871Tyr) c.7654C>T (p.His2552Tyr) n.1583C>T c.7783C>T (p.His2595Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489740A=	CA1260981134	ALMS1	c.7400A= (p.His2467=) c.792A= c.4852A= c.1847A= (p.His616=) c.7781A= (p.His2594=) c.896-30035A= c.2612A= (p.His871=) c.7655A= (p.His2552=) n.1584A= c.7784A= (p.His2595=)
2	g.73489740A>C	CA347264052	ALMS1	c.7400A>C (p.His2467Pro) c.792A>C c.4852A>C c.1847A>C (p.His616Pro) c.7781A>C (p.His2594Pro) c.896-30035A>C c.2612A>C (p.His871Pro) c.7655A>C (p.His2552Pro) n.1584A>C c.7784A>C (p.His2595Pro)
2	g.73489740A>G	CA347264051	ALMS1	c.7400A>G (p.His2467Arg) c.792A>G c.4852A>G c.1847A>G (p.His616Arg) c.7781A>G (p.His2594Arg) c.896-30035A>G c.2612A>G (p.His871Arg) c.7655A>G (p.His2552Arg) n.1584A>G c.7784A>G (p.His2595Arg)	gnomAD v4
2	g.73489740A>T	CA50377462	ALMS1	c.7400A>T (p.His2467Leu) c.792A>T c.4852A>T c.1847A>T (p.His616Leu) c.7781A>T (p.His2594Leu) c.896-30035A>T c.2612A>T (p.His871Leu) c.7655A>T (p.His2552Leu) n.1584A>T c.7784A>T (p.His2595Leu)	dbSNP
2	g.73489741T>A	CA347264053	ALMS1	c.7401T>A (p.His2467Gln) c.793T>A c.4853T>A c.1848T>A (p.His616Gln) c.7782T>A (p.His2594Gln) c.896-30034T>A c.2613T>A (p.His871Gln) c.7656T>A (p.His2552Gln) n.1585T>A c.7785T>A (p.His2595Gln)
2	g.73489741T>C	CA50377466	ALMS1	c.7401T>C (p.His2467=) c.793T>C c.4853T>C c.1848T>C (p.His616=) c.7782T>C (p.His2594=) c.896-30034T>C c.2613T>C (p.His871=) c.7656T>C (p.His2552=) n.1585T>C c.7785T>C (p.His2595=)	dbSNP gnomAD v3 gnomAD v4
2	g.73489741T>G	CA347264054	ALMS1	c.7401T>G (p.His2467Gln) c.793T>G c.4853T>G c.1848T>G (p.His616Gln) c.7782T>G (p.His2594Gln) c.896-30034T>G c.2613T>G (p.His871Gln) c.7656T>G (p.His2552Gln) n.1585T>G c.7785T>G (p.His2595Gln)
2	g.73489741T=	CA1260981135	ALMS1	c.7401T= (p.His2467=) c.793T= c.4853T= c.1848T= (p.His616=) c.7782T= (p.His2594=) c.896-30034T= c.2613T= (p.His871=) c.7656T= (p.His2552=) n.1585T= c.7785T= (p.His2595=)
2	g.73489742C>A	CA347264055	ALMS1	c.7402C>A (p.Pro2468Thr) c.794C>A c.4854C>A c.1849C>A (p.Pro617Thr) c.7783C>A (p.Pro2595Thr) c.896-30033C>A c.2614C>A (p.Pro872Thr) c.7657C>A (p.Pro2553Thr) n.1586C>A c.7786C>A (p.Pro2596Thr)
2	g.73489742C>G	CA347264056	ALMS1	c.7402C>G (p.Pro2468Ala) c.794C>G c.4854C>G c.1849C>G (p.Pro617Ala) c.7783C>G (p.Pro2595Ala) c.896-30033C>G c.2614C>G (p.Pro872Ala) c.7657C>G (p.Pro2553Ala) n.1586C>G c.7786C>G (p.Pro2596Ala)
2	g.73489742C>T	CA347264057	ALMS1	c.7402C>T (p.Pro2468Ser) c.794C>T c.4854C>T c.1849C>T (p.Pro617Ser) c.7783C>T (p.Pro2595Ser) c.896-30033C>T c.2614C>T (p.Pro872Ser) c.7657C>T (p.Pro2553Ser) n.1586C>T c.7786C>T (p.Pro2596Ser)
2	g.73489743C>A	CA347264058	ALMS1	c.7403C>A (p.Pro2468Gln) c.795C>A c.4855C>A c.1850C>A (p.Pro617Gln) c.7784C>A (p.Pro2595Gln) c.896-30032C>A c.2615C>A (p.Pro872Gln) c.7658C>A (p.Pro2553Gln) n.1587C>A c.7787C>A (p.Pro2596Gln)
2	g.73489743C>G	CA347264059	ALMS1	c.7403C>G (p.Pro2468Arg) c.795C>G c.4855C>G c.1850C>G (p.Pro617Arg) c.7784C>G (p.Pro2595Arg) c.896-30032C>G c.2615C>G (p.Pro872Arg) c.7658C>G (p.Pro2553Arg) n.1587C>G c.7787C>G (p.Pro2596Arg)
2	g.73489743C>T	CA347264060	ALMS1	c.7403C>T (p.Pro2468Leu) c.795C>T c.4855C>T c.1850C>T (p.Pro617Leu) c.7784C>T (p.Pro2595Leu) c.896-30032C>T c.2615C>T (p.Pro872Leu) c.7658C>T (p.Pro2553Leu) n.1587C>T c.7787C>T (p.Pro2596Leu)
2	g.73489744A=	CA1260981136	ALMS1	c.7404A= (p.Pro2468=) c.796A= c.4856A= c.1851A= (p.Pro617=) c.7785A= (p.Pro2595=) c.896-30031A= c.2616A= (p.Pro872=) c.7659A= (p.Pro2553=) n.1588A= c.7788A= (p.Pro2596=)
2	g.73489744A>C	CA426765670	ALMS1	c.7404A>C (p.Pro2468=) c.796A>C c.4856A>C c.1851A>C (p.Pro617=) c.7785A>C (p.Pro2595=) c.896-30031A>C c.2616A>C (p.Pro872=) c.7659A>C (p.Pro2553=) n.1588A>C c.7788A>C (p.Pro2596=)
2	g.73489744A>G	CA1714349	ALMS1	c.7404A>G (p.Pro2468=) c.796A>G c.4856A>G c.1851A>G (p.Pro617=) c.7785A>G (p.Pro2595=) c.896-30031A>G c.2616A>G (p.Pro872=) c.7659A>G (p.Pro2553=) n.1588A>G c.7788A>G (p.Pro2596=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489744A>T	CA426765672	ALMS1	c.7404A>T (p.Pro2468=) c.796A>T c.4856A>T c.1851A>T (p.Pro617=) c.7785A>T (p.Pro2595=) c.896-30031A>T c.2616A>T (p.Pro872=) c.7659A>T (p.Pro2553=) n.1588A>T c.7788A>T (p.Pro2596=)
2	g.73489745C>A	CA347264061	ALMS1	c.7405C>A (p.Gln2469Lys) c.797C>A c.4857C>A c.1852C>A (p.Gln618Lys) c.7786C>A (p.Gln2596Lys) c.896-30030C>A c.2617C>A (p.Gln873Lys) c.7660C>A (p.Gln2554Lys) n.1589C>A c.7789C>A (p.Gln2597Lys)
2	g.73489745C=	CA1260981137	ALMS1	c.7405C= (p.Gln2469=) c.797C= c.4857C= c.1852C= (p.Gln618=) c.7786C= (p.Gln2596=) c.896-30030C= c.2617C= (p.Gln873=) c.7660C= (p.Gln2554=) n.1589C= c.7789C= (p.Gln2597=)
2	g.73489745C>G	CA347264062	ALMS1	c.7405C>G (p.Gln2469Glu) c.797C>G c.4857C>G c.1852C>G (p.Gln618Glu) c.7786C>G (p.Gln2596Glu) c.896-30030C>G c.2617C>G (p.Gln873Glu) c.7660C>G (p.Gln2554Glu) n.1589C>G c.7789C>G (p.Gln2597Glu)
2	g.73489745C>T	CA347264063	ALMS1	c.7405C>T (p.Gln2469Ter) c.797C>T c.4857C>T c.1852C>T (p.Gln618Ter) c.7786C>T (p.Gln2596Ter) c.896-30030C>T c.2617C>T (p.Gln873Ter) c.7660C>T (p.Gln2554Ter) n.1589C>T c.7789C>T (p.Gln2597Ter)	ClinVar dbSNP
2	g.73489746A>C	CA347264066	ALMS1	c.7406A>C (p.Gln2469Pro) c.798A>C c.4858A>C c.1853A>C (p.Gln618Pro) c.7787A>C (p.Gln2596Pro) c.896-30029A>C c.2618A>C (p.Gln873Pro) c.7661A>C (p.Gln2554Pro) n.1590A>C c.7790A>C (p.Gln2597Pro)
2	g.73489746A>G	CA347264065	ALMS1	c.7406A>G (p.Gln2469Arg) c.798A>G c.4858A>G c.1853A>G (p.Gln618Arg) c.7787A>G (p.Gln2596Arg) c.896-30029A>G c.2618A>G (p.Gln873Arg) c.7661A>G (p.Gln2554Arg) n.1590A>G c.7790A>G (p.Gln2597Arg)
2	g.73489746A>T	CA347264064	ALMS1	c.7406A>T (p.Gln2469Leu) c.798A>T c.4858A>T c.1853A>T (p.Gln618Leu) c.7787A>T (p.Gln2596Leu) c.896-30029A>T c.2618A>T (p.Gln873Leu) c.7661A>T (p.Gln2554Leu) n.1590A>T c.7790A>T (p.Gln2597Leu)
2	g.73489747A=	CA1260981138	ALMS1	c.7407A= (p.Gln2469=) c.799A= c.4859A= c.1854A= (p.Gln618=) c.7788A= (p.Gln2596=) c.896-30028A= c.2619A= (p.Gln873=) c.7662A= (p.Gln2554=) n.1591A= c.7791A= (p.Gln2597=)
2	g.73489747A>C	CA1714350	ALMS1	c.7407A>C (p.Gln2469His) c.799A>C c.4859A>C c.1854A>C (p.Gln618His) c.7788A>C (p.Gln2596His) c.896-30028A>C c.2619A>C (p.Gln873His) c.7662A>C (p.Gln2554His) n.1591A>C c.7791A>C (p.Gln2597His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489747A>G	CA426765678	ALMS1	c.7407A>G (p.Gln2469=) c.799A>G c.4859A>G c.1854A>G (p.Gln618=) c.7788A>G (p.Gln2596=) c.896-30028A>G c.2619A>G (p.Gln873=) c.7662A>G (p.Gln2554=) n.1591A>G c.7791A>G (p.Gln2597=)	ClinVar gnomAD v4
2	g.73489747A>T	CA347264067	ALMS1	c.7407A>T (p.Gln2469His) c.799A>T c.4859A>T c.1854A>T (p.Gln618His) c.7788A>T (p.Gln2596His) c.896-30028A>T c.2619A>T (p.Gln873His) c.7662A>T (p.Gln2554His) n.1591A>T c.7791A>T (p.Gln2597His)	gnomAD v4
2	g.73489748C>A	CA347264068	ALMS1	c.7408C>A (p.Leu2470Ile) c.800C>A c.4860C>A c.1855C>A (p.Leu619Ile) c.7789C>A (p.Leu2597Ile) c.896-30027C>A c.2620C>A (p.Leu874Ile) c.7663C>A (p.Leu2555Ile) n.1592C>A c.7792C>A (p.Leu2598Ile)
2	g.73489748C>G	CA347264069	ALMS1	c.7408C>G (p.Leu2470Val) c.800C>G c.4860C>G c.1855C>G (p.Leu619Val) c.7789C>G (p.Leu2597Val) c.896-30027C>G c.2620C>G (p.Leu874Val) c.7663C>G (p.Leu2555Val) n.1592C>G c.7792C>G (p.Leu2598Val)
2	g.73489748C>T	CA426765681	ALMS1	c.7408C>T (p.Leu2470=) c.800C>T c.4860C>T c.1855C>T (p.Leu619=) c.7789C>T (p.Leu2597=) c.896-30027C>T c.2620C>T (p.Leu874=) c.7663C>T (p.Leu2555=) n.1592C>T c.7792C>T (p.Leu2598=)	ClinVar
2	g.73489749T>A	CA347264070	ALMS1	c.7409T>A (p.Leu2470Gln) c.801T>A c.4861T>A c.1856T>A (p.Leu619Gln) c.7790T>A (p.Leu2597Gln) c.896-30026T>A c.2621T>A (p.Leu874Gln) c.7664T>A (p.Leu2555Gln) n.1593T>A c.7793T>A (p.Leu2598Gln)
2	g.73489749T>C	CA347264072	ALMS1	c.7409T>C (p.Leu2470Pro) c.801T>C c.4861T>C c.1856T>C (p.Leu619Pro) c.7790T>C (p.Leu2597Pro) c.896-30026T>C c.2621T>C (p.Leu874Pro) c.7664T>C (p.Leu2555Pro) n.1593T>C c.7793T>C (p.Leu2598Pro)
2	g.73489749T>G	CA347264071	ALMS1	c.7409T>G (p.Leu2470Arg) c.801T>G c.4861T>G c.1856T>G (p.Leu619Arg) c.7790T>G (p.Leu2597Arg) c.896-30026T>G c.2621T>G (p.Leu874Arg) c.7664T>G (p.Leu2555Arg) n.1593T>G c.7793T>G (p.Leu2598Arg)	dbSNP
2	g.73489749T=	CA1260981139	ALMS1	c.7409T= (p.Leu2470=) c.801T= c.4861T= c.1856T= (p.Leu619=) c.7790T= (p.Leu2597=) c.896-30026T= c.2621T= (p.Leu874=) c.7664T= (p.Leu2555=) n.1593T= c.7793T= (p.Leu2598=)
2	g.73489750A=	CA1260981140	ALMS1	c.7410A= (p.Leu2470=) c.802A= c.4862A= c.1857A= (p.Leu619=) c.7791A= (p.Leu2597=) c.896-30025A= c.2622A= (p.Leu874=) c.7665A= (p.Leu2555=) n.1594A= c.7794A= (p.Leu2598=)
2	g.73489750A>C	CA50377479	ALMS1	c.7410A>C (p.Leu2470=) c.802A>C c.4862A>C c.1857A>C (p.Leu619=) c.7791A>C (p.Leu2597=) c.896-30025A>C c.2622A>C (p.Leu874=) c.7665A>C (p.Leu2555=) n.1594A>C c.7794A>C (p.Leu2598=)	dbSNP
2	g.73489750A>G	CA1714351	ALMS1	c.7410A>G (p.Leu2470=) c.802A>G c.4862A>G c.1857A>G (p.Leu619=) c.7791A>G (p.Leu2597=) c.896-30025A>G c.2622A>G (p.Leu874=) c.7665A>G (p.Leu2555=) n.1594A>G c.7794A>G (p.Leu2598=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489750A>T	CA426765688	ALMS1	c.7410A>T (p.Leu2470=) c.802A>T c.4862A>T c.1857A>T (p.Leu619=) c.7791A>T (p.Leu2597=) c.896-30025A>T c.2622A>T (p.Leu874=) c.7665A>T (p.Leu2555=) n.1594A>T c.7794A>T (p.Leu2598=)
2	g.73489751G>A	CA347264073	ALMS1	c.7411G>A (p.Asp2471Asn) c.803G>A c.4863G>A c.1858G>A (p.Asp620Asn) c.7792G>A (p.Asp2598Asn) c.896-30024G>A c.2623G>A (p.Asp875Asn) c.7666G>A (p.Asp2556Asn) n.1595G>A c.7795G>A (p.Asp2599Asn)
2	g.73489751G>C	CA347264074	ALMS1	c.7411G>C (p.Asp2471His) c.803G>C c.4863G>C c.1858G>C (p.Asp620His) c.7792G>C (p.Asp2598His) c.896-30024G>C c.2623G>C (p.Asp875His) c.7666G>C (p.Asp2556His) n.1595G>C c.7795G>C (p.Asp2599His)
2	g.73489751G=	CA1260981141	ALMS1	c.7411G= (p.Asp2471=) c.803G= c.4863G= c.1858G= (p.Asp620=) c.7792G= (p.Asp2598=) c.896-30024G= c.2623G= (p.Asp875=) c.7666G= (p.Asp2556=) n.1595G= c.7795G= (p.Asp2599=)
2	g.73489751G>T	CA1714352	ALMS1	c.7411G>T (p.Asp2471Tyr) c.803G>T c.4863G>T c.1858G>T (p.Asp620Tyr) c.7792G>T (p.Asp2598Tyr) c.896-30024G>T c.2623G>T (p.Asp875Tyr) c.7666G>T (p.Asp2556Tyr) n.1595G>T c.7795G>T (p.Asp2599Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489752A=	CA1260981142	ALMS1	c.7412A= (p.Asp2471=) c.804A= c.4864A= c.1859A= (p.Asp620=) c.7793A= (p.Asp2598=) c.896-30023A= c.2624A= (p.Asp875=) c.7667A= (p.Asp2556=) n.1596A= c.7796A= (p.Asp2599=)
2	g.73489752A>C	CA347264075	ALMS1	c.7412A>C (p.Asp2471Ala) c.804A>C c.4864A>C c.1859A>C (p.Asp620Ala) c.7793A>C (p.Asp2598Ala) c.896-30023A>C c.2624A>C (p.Asp875Ala) c.7667A>C (p.Asp2556Ala) n.1596A>C c.7796A>C (p.Asp2599Ala)
2	g.73489752A>G	CA347264076	ALMS1	c.7412A>G (p.Asp2471Gly) c.804A>G c.4864A>G c.1859A>G (p.Asp620Gly) c.7793A>G (p.Asp2598Gly) c.896-30023A>G c.2624A>G (p.Asp875Gly) c.7667A>G (p.Asp2556Gly) n.1596A>G c.7796A>G (p.Asp2599Gly)	dbSNP gnomAD v4
2	g.73489752A>T	CA347264077	ALMS1	c.7412A>T (p.Asp2471Val) c.804A>T c.4864A>T c.1859A>T (p.Asp620Val) c.7793A>T (p.Asp2598Val) c.896-30023A>T c.2624A>T (p.Asp875Val) c.7667A>T (p.Asp2556Val) n.1596A>T c.7796A>T (p.Asp2599Val)
2	g.73489753T>A	CA347264078	ALMS1	c.7413T>A (p.Asp2471Glu) c.805T>A c.4865T>A c.1860T>A (p.Asp620Glu) c.7794T>A (p.Asp2598Glu) c.896-30022T>A c.2625T>A (p.Asp875Glu) c.7668T>A (p.Asp2556Glu) n.1597T>A c.7797T>A (p.Asp2599Glu)
2	g.73489753T>C	CA426765699	ALMS1	c.7413T>C (p.Asp2471=) c.805T>C c.4865T>C c.1860T>C (p.Asp620=) c.7794T>C (p.Asp2598=) c.896-30022T>C c.2625T>C (p.Asp875=) c.7668T>C (p.Asp2556=) n.1597T>C c.7797T>C (p.Asp2599=)	gnomAD v4
2	g.73489753T>G	CA347264079	ALMS1	c.7413T>G (p.Asp2471Glu) c.805T>G c.4865T>G c.1860T>G (p.Asp620Glu) c.7794T>G (p.Asp2598Glu) c.896-30022T>G c.2625T>G (p.Asp875Glu) c.7668T>G (p.Asp2556Glu) n.1597T>G c.7797T>G (p.Asp2599Glu)
2	g.73489754A>C	CA426765705	ALMS1	c.7414A>C (p.Arg2472=) c.806A>C c.4866A>C c.1861A>C (p.Arg621=) c.7795A>C (p.Arg2599=) c.896-30021A>C c.2626A>C (p.Arg876=) c.7669A>C (p.Arg2557=) n.1598A>C c.7798A>C (p.Arg2600=)
2	g.73489754A>G	CA347264080	ALMS1	c.7414A>G (p.Arg2472Gly) c.806A>G c.4866A>G c.1861A>G (p.Arg621Gly) c.7795A>G (p.Arg2599Gly) c.896-30021A>G c.2626A>G (p.Arg876Gly) c.7669A>G (p.Arg2557Gly) n.1598A>G c.7798A>G (p.Arg2600Gly)	gnomAD v4
2	g.73489754A>T	CA347264081	ALMS1	c.7414A>T (p.Arg2472Ter) c.806A>T c.4866A>T c.1861A>T (p.Arg621Ter) c.7795A>T (p.Arg2599Ter) c.896-30021A>T c.2626A>T (p.Arg876Ter) c.7669A>T (p.Arg2557Ter) n.1598A>T c.7798A>T (p.Arg2600Ter)
2	g.73489755G>A	CA347264082	ALMS1	c.7415G>A (p.Arg2472Lys) c.807G>A c.4867G>A c.1862G>A (p.Arg621Lys) c.7796G>A (p.Arg2599Lys) c.896-30020G>A c.2627G>A (p.Arg876Lys) c.7670G>A (p.Arg2557Lys) n.1599G>A c.7799G>A (p.Arg2600Lys)
2	g.73489755G>C	CA347264083	ALMS1	c.7415G>C (p.Arg2472Thr) c.807G>C c.4867G>C c.1862G>C (p.Arg621Thr) c.7796G>C (p.Arg2599Thr) c.896-30020G>C c.2627G>C (p.Arg876Thr) c.7670G>C (p.Arg2557Thr) n.1599G>C c.7799G>C (p.Arg2600Thr)	gnomAD v4
2	g.73489755G>T	CA347264084	ALMS1	c.7415G>T (p.Arg2472Ile) c.807G>T c.4867G>T c.1862G>T (p.Arg621Ile) c.7796G>T (p.Arg2599Ile) c.896-30020G>T c.2627G>T (p.Arg876Ile) c.7670G>T (p.Arg2557Ile) n.1599G>T c.7799G>T (p.Arg2600Ile)
2	g.73489756A=	CA1260981143	ALMS1	c.7416A= (p.Arg2472=) c.808A= c.4868A= c.1863A= (p.Arg621=) c.7797A= (p.Arg2599=) c.896-30019A= c.2628A= (p.Arg876=) c.7671A= (p.Arg2557=) n.1600A= c.7800A= (p.Arg2600=)
2	g.73489756A>C	CA347264085	ALMS1	c.7416A>C (p.Arg2472Ser) c.808A>C c.4868A>C c.1863A>C (p.Arg621Ser) c.7797A>C (p.Arg2599Ser) c.896-30019A>C c.2628A>C (p.Arg876Ser) c.7671A>C (p.Arg2557Ser) n.1600A>C c.7800A>C (p.Arg2600Ser)
2	g.73489756A>G	CA426765716	ALMS1	c.7416A>G (p.Arg2472=) c.808A>G c.4868A>G c.1863A>G (p.Arg621=) c.7797A>G (p.Arg2599=) c.896-30019A>G c.2628A>G (p.Arg876=) c.7671A>G (p.Arg2557=) n.1600A>G c.7800A>G (p.Arg2600=)	ClinVar dbSNP gnomAD v4
2	g.73489756A>T	CA347264086	ALMS1	c.7416A>T (p.Arg2472Ser) c.808A>T c.4868A>T c.1863A>T (p.Arg621Ser) c.7797A>T (p.Arg2599Ser) c.896-30019A>T c.2628A>T (p.Arg876Ser) c.7671A>T (p.Arg2557Ser) n.1600A>T c.7800A>T (p.Arg2600Ser)
2	g.73489757C>A	CA347264087	ALMS1	c.7417C>A (p.His2473Asn) c.809C>A c.4869C>A c.1864C>A (p.His622Asn) c.7798C>A (p.His2600Asn) c.896-30018C>A c.2629C>A (p.His877Asn) c.7672C>A (p.His2558Asn) n.1601C>A c.7801C>A (p.His2601Asn)
2	g.73489757C>G	CA347264088	ALMS1	c.7417C>G (p.His2473Asp) c.809C>G c.4869C>G c.1864C>G (p.His622Asp) c.7798C>G (p.His2600Asp) c.896-30018C>G c.2629C>G (p.His877Asp) c.7672C>G (p.His2558Asp) n.1601C>G c.7801C>G (p.His2601Asp)
2	g.73489757C>T	CA347264089	ALMS1	c.7417C>T (p.His2473Tyr) c.809C>T c.4869C>T c.1864C>T (p.His622Tyr) c.7798C>T (p.His2600Tyr) c.896-30018C>T c.2629C>T (p.His877Tyr) c.7672C>T (p.His2558Tyr) n.1601C>T c.7801C>T (p.His2601Tyr)
2	g.73489758A=	CA1260981144	ALMS1	c.7418A= (p.His2473=) c.810A= c.4870A= c.1865A= (p.His622=) c.7799A= (p.His2600=) c.896-30017A= c.2630A= (p.His877=) c.7673A= (p.His2558=) n.1602A= c.7802A= (p.His2601=)
2	g.73489758A>C	CA347264090	ALMS1	c.7418A>C (p.His2473Pro) c.810A>C c.4870A>C c.1865A>C (p.His622Pro) c.7799A>C (p.His2600Pro) c.896-30017A>C c.2630A>C (p.His877Pro) c.7673A>C (p.His2558Pro) n.1602A>C c.7802A>C (p.His2601Pro)
2	g.73489758A>G	CA347264091	ALMS1	c.7418A>G (p.His2473Arg) c.810A>G c.4870A>G c.1865A>G (p.His622Arg) c.7799A>G (p.His2600Arg) c.896-30017A>G c.2630A>G (p.His877Arg) c.7673A>G (p.His2558Arg) n.1602A>G c.7802A>G (p.His2601Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73489758A>T	CA347264092	ALMS1	c.7418A>T (p.His2473Leu) c.810A>T c.4870A>T c.1865A>T (p.His622Leu) c.7799A>T (p.His2600Leu) c.896-30017A>T c.2630A>T (p.His877Leu) c.7673A>T (p.His2558Leu) n.1602A>T c.7802A>T (p.His2601Leu)
2	g.73489759C>A	CA347264093	ALMS1	c.7419C>A (p.His2473Gln) c.811C>A c.4871C>A c.1866C>A (p.His622Gln) c.7800C>A (p.His2600Gln) c.896-30016C>A c.2631C>A (p.His877Gln) c.7674C>A (p.His2558Gln) n.1603C>A c.7803C>A (p.His2601Gln)	gnomAD v4
2	g.73489759C>G	CA347264094	ALMS1	c.7419C>G (p.His2473Gln) c.811C>G c.4871C>G c.1866C>G (p.His622Gln) c.7800C>G (p.His2600Gln) c.896-30016C>G c.2631C>G (p.His877Gln) c.7674C>G (p.His2558Gln) n.1603C>G c.7803C>G (p.His2601Gln)	gnomAD v4
2	g.73489759C>T	CA426765733	ALMS1	c.7419C>T (p.His2473=) c.811C>T c.4871C>T c.1866C>T (p.His622=) c.7800C>T (p.His2600=) c.896-30016C>T c.2631C>T (p.His877=) c.7674C>T (p.His2558=) n.1603C>T c.7803C>T (p.His2601=)	ClinVar
2	g.73489760C>A	CA347264095	ALMS1	c.7420C>A (p.Pro2474Thr) c.812C>A c.4872C>A c.1867C>A (p.Pro623Thr) c.7801C>A (p.Pro2601Thr) c.896-30015C>A c.2632C>A (p.Pro878Thr) c.7675C>A (p.Pro2559Thr) n.1604C>A c.7804C>A (p.Pro2602Thr)
2	g.73489760C=	CA1260981145	ALMS1	c.7420C= (p.Pro2474=) c.812C= c.4872C= c.1867C= (p.Pro623=) c.7801C= (p.Pro2601=) c.896-30015C= c.2632C= (p.Pro878=) c.7675C= (p.Pro2559=) n.1604C= c.7804C= (p.Pro2602=)
2	g.73489760C>G	CA347264096	ALMS1	c.7420C>G (p.Pro2474Ala) c.812C>G c.4872C>G c.1867C>G (p.Pro623Ala) c.7801C>G (p.Pro2601Ala) c.896-30015C>G c.2632C>G (p.Pro878Ala) c.7675C>G (p.Pro2559Ala) n.1604C>G c.7804C>G (p.Pro2602Ala)	ClinVar
2	g.73489760C>T	CA347264097	ALMS1	c.7420C>T (p.Pro2474Ser) c.812C>T c.4872C>T c.1867C>T (p.Pro623Ser) c.7801C>T (p.Pro2601Ser) c.896-30015C>T c.2632C>T (p.Pro878Ser) c.7675C>T (p.Pro2559Ser) n.1604C>T c.7804C>T (p.Pro2602Ser)	ClinVar dbSNP gnomAD v4
2	g.73489761C>A	CA347264100	ALMS1	c.7421C>A (p.Pro2474His) c.813C>A c.4873C>A c.1868C>A (p.Pro623His) c.7802C>A (p.Pro2601His) c.896-30014C>A c.2633C>A (p.Pro878His) c.7676C>A (p.Pro2559His) n.1605C>A c.7805C>A (p.Pro2602His)	ClinVar dbSNP gnomAD v4
2	g.73489761C>G	CA347264099	ALMS1	c.7421C>G (p.Pro2474Arg) c.813C>G c.4873C>G c.1868C>G (p.Pro623Arg) c.7802C>G (p.Pro2601Arg) c.896-30014C>G c.2633C>G (p.Pro878Arg) c.7676C>G (p.Pro2559Arg) n.1605C>G c.7805C>G (p.Pro2602Arg)	gnomAD v4
2	g.73489761C>T	CA347264098	ALMS1	c.7421C>T (p.Pro2474Leu) c.813C>T c.4873C>T c.1868C>T (p.Pro623Leu) c.7802C>T (p.Pro2601Leu) c.896-30014C>T c.2633C>T (p.Pro878Leu) c.7676C>T (p.Pro2559Leu) n.1605C>T c.7805C>T (p.Pro2602Leu)
2	g.73489762T>A	CA426765749	ALMS1	c.7422T>A (p.Pro2474=) c.814T>A c.4874T>A c.1869T>A (p.Pro623=) c.7803T>A (p.Pro2601=) c.896-30013T>A c.2634T>A (p.Pro878=) c.7677T>A (p.Pro2559=) n.1606T>A c.7806T>A (p.Pro2602=)
2	g.73489762T>C	CA426765745	ALMS1	c.7422T>C (p.Pro2474=) c.814T>C c.4874T>C c.1869T>C (p.Pro623=) c.7803T>C (p.Pro2601=) c.896-30013T>C c.2634T>C (p.Pro878=) c.7677T>C (p.Pro2559=) n.1606T>C c.7806T>C (p.Pro2602=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73489762T>G	CA426765746	ALMS1	c.7422T>G (p.Pro2474=) c.814T>G c.4874T>G c.1869T>G (p.Pro623=) c.7803T>G (p.Pro2601=) c.896-30013T>G c.2634T>G (p.Pro878=) c.7677T>G (p.Pro2559=) n.1606T>G c.7806T>G (p.Pro2602=)
2	g.73489762T=	CA1260981146	ALMS1	c.7422T= (p.Pro2474=) c.814T= c.4874T= c.1869T= (p.Pro623=) c.7803T= (p.Pro2601=) c.896-30013T= c.2634T= (p.Pro878=) c.7677T= (p.Pro2559=) n.1606T= c.7806T= (p.Pro2602=)
2	g.73489763T>A	CA347264101	ALMS1	c.7423T>A (p.Cys2475Ser) c.815T>A c.4875T>A c.1870T>A (p.Cys624Ser) c.7804T>A (p.Cys2602Ser) c.896-30012T>A c.2635T>A (p.Cys879Ser) c.7678T>A (p.Cys2560Ser) n.1607T>A c.7807T>A (p.Cys2603Ser)
2	g.73489763T>C	CA347264102	ALMS1	c.7423T>C (p.Cys2475Arg) c.815T>C c.4875T>C c.1870T>C (p.Cys624Arg) c.7804T>C (p.Cys2602Arg) c.896-30012T>C c.2635T>C (p.Cys879Arg) c.7678T>C (p.Cys2560Arg) n.1607T>C c.7807T>C (p.Cys2603Arg)
2	g.73489763T>G	CA347264103	ALMS1	c.7423T>G (p.Cys2475Gly) c.815T>G c.4875T>G c.1870T>G (p.Cys624Gly) c.7804T>G (p.Cys2602Gly) c.896-30012T>G c.2635T>G (p.Cys879Gly) c.7678T>G (p.Cys2560Gly) n.1607T>G c.7807T>G (p.Cys2603Gly)
2	g.73489764G>A	CA347264104	ALMS1	c.7424G>A (p.Cys2475Tyr) c.816G>A c.4876G>A c.1871G>A (p.Cys624Tyr) c.7805G>A (p.Cys2602Tyr) c.896-30011G>A c.2636G>A (p.Cys879Tyr) c.7679G>A (p.Cys2560Tyr) n.1608G>A c.7808G>A (p.Cys2603Tyr)
2	g.73489764G>C	CA347264105	ALMS1	c.7424G>C (p.Cys2475Ser) c.816G>C c.4876G>C c.1871G>C (p.Cys624Ser) c.7805G>C (p.Cys2602Ser) c.896-30011G>C c.2636G>C (p.Cys879Ser) c.7679G>C (p.Cys2560Ser) n.1608G>C c.7808G>C (p.Cys2603Ser)
2	g.73489764G>T	CA347264106	ALMS1	c.7424G>T (p.Cys2475Phe) c.816G>T c.4876G>T c.1871G>T (p.Cys624Phe) c.7805G>T (p.Cys2602Phe) c.896-30011G>T c.2636G>T (p.Cys879Phe) c.7679G>T (p.Cys2560Phe) n.1608G>T c.7808G>T (p.Cys2603Phe)
2	g.73489764dup	CA2659619822	ALMS1	c.7424dup (p.Cys2475TrpfsTer?) c.816dup c.4876dup c.1871dup (p.Cys624TrpfsTer?) c.7805dup (p.Cys2602TrpfsTer?) c.896-30011dup c.2636dup (p.Cys879TrpfsTer?) c.7679dup (p.Cys2560TrpfsTer?) n.1608dup c.7808dup (p.Cys2603TrpfsTer?)	gnomAD v4
2	g.73489765T>A	CA347264107	ALMS1	c.7425T>A (p.Cys2475Ter) c.817T>A c.4877T>A c.1872T>A (p.Cys624Ter) c.7806T>A (p.Cys2602Ter) c.896-30010T>A c.2637T>A (p.Cys879Ter) c.7680T>A (p.Cys2560Ter) n.1609T>A c.7809T>A (p.Cys2603Ter)	ClinVar
2	g.73489765T>C	CA426765769	ALMS1	c.7425T>C (p.Cys2475=) c.817T>C c.4877T>C c.1872T>C (p.Cys624=) c.7806T>C (p.Cys2602=) c.896-30010T>C c.2637T>C (p.Cys879=) c.7680T>C (p.Cys2560=) n.1609T>C c.7809T>C (p.Cys2603=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489765T>G	CA347264108	ALMS1	c.7425T>G (p.Cys2475Trp) c.817T>G c.4877T>G c.1872T>G (p.Cys624Trp) c.7806T>G (p.Cys2602Trp) c.896-30010T>G c.2637T>G (p.Cys879Trp) c.7680T>G (p.Cys2560Trp) n.1609T>G c.7809T>G (p.Cys2603Trp)
2	g.73489765T=	CA1260981147	ALMS1	c.7425T= (p.Cys2475=) c.817T= c.4877T= c.1872T= (p.Cys624=) c.7806T= (p.Cys2602=) c.896-30010T= c.2637T= (p.Cys879=) c.7680T= (p.Cys2560=) n.1609T= c.7809T= (p.Cys2603=)
2	g.73489766G>A	CA347264109	ALMS1	c.7426G>A (p.Ala2476Thr) c.818G>A c.4878G>A c.1873G>A (p.Ala625Thr) c.7807G>A (p.Ala2603Thr) c.896-30009G>A c.2638G>A (p.Ala880Thr) c.7681G>A (p.Ala2561Thr) n.1610G>A c.7810G>A (p.Ala2604Thr)
2	g.73489766G>C	CA50377496	ALMS1	c.7426G>C (p.Ala2476Pro) c.818G>C c.4878G>C c.1873G>C (p.Ala625Pro) c.7807G>C (p.Ala2603Pro) c.896-30009G>C c.2638G>C (p.Ala880Pro) c.7681G>C (p.Ala2561Pro) n.1610G>C c.7810G>C (p.Ala2604Pro)	dbSNP
2	g.73489766G=	CA1260981148	ALMS1	c.7426G= (p.Ala2476=) c.818G= c.4878G= c.1873G= (p.Ala625=) c.7807G= (p.Ala2603=) c.896-30009G= c.2638G= (p.Ala880=) c.7681G= (p.Ala2561=) n.1610G= c.7810G= (p.Ala2604=)
2	g.73489766G>T	CA347264110	ALMS1	c.7426G>T (p.Ala2476Ser) c.818G>T c.4878G>T c.1873G>T (p.Ala625Ser) c.7807G>T (p.Ala2603Ser) c.896-30009G>T c.2638G>T (p.Ala880Ser) c.7681G>T (p.Ala2561Ser) n.1610G>T c.7810G>T (p.Ala2604Ser)
2	g.73489767C>A	CA347264113	ALMS1	c.7427C>A (p.Ala2476Asp) c.819C>A c.4879C>A c.1874C>A (p.Ala625Asp) c.7808C>A (p.Ala2603Asp) c.896-30008C>A c.2639C>A (p.Ala880Asp) c.7682C>A (p.Ala2561Asp) n.1611C>A c.7811C>A (p.Ala2604Asp)
2	g.73489767C>G	CA347264112	ALMS1	c.7427C>G (p.Ala2476Gly) c.819C>G c.4879C>G c.1874C>G (p.Ala625Gly) c.7808C>G (p.Ala2603Gly) c.896-30008C>G c.2639C>G (p.Ala880Gly) c.7682C>G (p.Ala2561Gly) n.1611C>G c.7811C>G (p.Ala2604Gly)
2	g.73489767C>T	CA347264111	ALMS1	c.7427C>T (p.Ala2476Val) c.819C>T c.4879C>T c.1874C>T (p.Ala625Val) c.7808C>T (p.Ala2603Val) c.896-30008C>T c.2639C>T (p.Ala880Val) c.7682C>T (p.Ala2561Val) n.1611C>T c.7811C>T (p.Ala2604Val)
2	g.73489768T>A	CA426765779	ALMS1	c.7428T>A (p.Ala2476=) c.820T>A c.4880T>A c.1875T>A (p.Ala625=) c.7809T>A (p.Ala2603=) c.896-30007T>A c.2640T>A (p.Ala880=) c.7683T>A (p.Ala2561=) n.1612T>A c.7812T>A (p.Ala2604=)	dbSNP gnomAD v3 gnomAD v4
2	g.73489768T>C	CA426765781	ALMS1	c.7428T>C (p.Ala2476=) c.820T>C c.4880T>C c.1875T>C (p.Ala625=) c.7809T>C (p.Ala2603=) c.896-30007T>C c.2640T>C (p.Ala880=) c.7683T>C (p.Ala2561=) n.1612T>C c.7812T>C (p.Ala2604=)
2	g.73489768T>G	CA426765783	ALMS1	c.7428T>G (p.Ala2476=) c.820T>G c.4880T>G c.1875T>G (p.Ala625=) c.7809T>G (p.Ala2603=) c.896-30007T>G c.2640T>G (p.Ala880=) c.7683T>G (p.Ala2561=) n.1612T>G c.7812T>G (p.Ala2604=)
2	g.73489768T=	CA1260981149	ALMS1	c.7428T= (p.Ala2476=) c.820T= c.4880T= c.1875T= (p.Ala625=) c.7809T= (p.Ala2603=) c.896-30007T= c.2640T= (p.Ala880=) c.7683T= (p.Ala2561=) n.1612T= c.7812T= (p.Ala2604=)
2	g.73489770del	CA2699534513	ALMS1	c.7430del (p.Phe2477SerfsTer9) c.822del c.4882del c.1877del (p.Phe626SerfsTer9) c.7811del (p.Phe2604SerfsTer9) c.896-30005del c.2642del (p.Phe881SerfsTer9) c.7685del (p.Phe2562SerfsTer9) n.1614del c.7814del (p.Phe2605SerfsTer9)	dbSNP
2	g.73489769T>A	CA347264114	ALMS1	c.7429T>A (p.Phe2477Ile) c.821T>A c.4881T>A c.1876T>A (p.Phe626Ile) c.7810T>A (p.Phe2604Ile) c.896-30006T>A c.2641T>A (p.Phe881Ile) c.7684T>A (p.Phe2562Ile) n.1613T>A c.7813T>A (p.Phe2605Ile)
2	g.73489769T>C	CA347264115	ALMS1	c.7429T>C (p.Phe2477Leu) c.821T>C c.4881T>C c.1876T>C (p.Phe626Leu) c.7810T>C (p.Phe2604Leu) c.896-30006T>C c.2641T>C (p.Phe881Leu) c.7684T>C (p.Phe2562Leu) n.1613T>C c.7813T>C (p.Phe2605Leu)
2	g.73489769T>G	CA347264116	ALMS1	c.7429T>G (p.Phe2477Val) c.821T>G c.4881T>G c.1876T>G (p.Phe626Val) c.7810T>G (p.Phe2604Val) c.896-30006T>G c.2641T>G (p.Phe881Val) c.7684T>G (p.Phe2562Val) n.1613T>G c.7813T>G (p.Phe2605Val)	ClinVar dbSNP gnomAD v2
2	g.73489769T=	CA1260981150	ALMS1	c.7429T= (p.Phe2477=) c.821T= c.4881T= c.1876T= (p.Phe626=) c.7810T= (p.Phe2604=) c.896-30006T= c.2641T= (p.Phe881=) c.7684T= (p.Phe2562=) n.1613T= c.7813T= (p.Phe2605=)
2	g.73489770T>A	CA347264117	ALMS1	c.7430T>A (p.Phe2477Tyr) c.822T>A c.4882T>A c.1877T>A (p.Phe626Tyr) c.7811T>A (p.Phe2604Tyr) c.896-30005T>A c.2642T>A (p.Phe881Tyr) c.7685T>A (p.Phe2562Tyr) n.1614T>A c.7814T>A (p.Phe2605Tyr)
2	g.73489770T>C	CA347264118	ALMS1	c.7430T>C (p.Phe2477Ser) c.822T>C c.4882T>C c.1877T>C (p.Phe626Ser) c.7811T>C (p.Phe2604Ser) c.896-30005T>C c.2642T>C (p.Phe881Ser) c.7685T>C (p.Phe2562Ser) n.1614T>C c.7814T>C (p.Phe2605Ser)	ClinVar dbSNP
2	g.73489770T>G	CA347264119	ALMS1	c.7430T>G (p.Phe2477Cys) c.822T>G c.4882T>G c.1877T>G (p.Phe626Cys) c.7811T>G (p.Phe2604Cys) c.896-30005T>G c.2642T>G (p.Phe881Cys) c.7685T>G (p.Phe2562Cys) n.1614T>G c.7814T>G (p.Phe2605Cys)
2	g.73489770T=	CA1260981151	ALMS1	c.7430T= (p.Phe2477=) c.822T= c.4882T= c.1877T= (p.Phe626=) c.7811T= (p.Phe2604=) c.896-30005T= c.2642T= (p.Phe881=) c.7685T= (p.Phe2562=) n.1614T= c.7814T= (p.Phe2605=)
2	g.73489771C>A	CA347264120	ALMS1	c.7431C>A (p.Phe2477Leu) c.823C>A c.4883C>A c.1878C>A (p.Phe626Leu) c.7812C>A (p.Phe2604Leu) c.896-30004C>A c.2643C>A (p.Phe881Leu) c.7686C>A (p.Phe2562Leu) n.1615C>A c.7815C>A (p.Phe2605Leu)
2	g.73489771C=	CA1260981152	ALMS1	c.7431C= (p.Phe2477=) c.823C= c.4883C= c.1878C= (p.Phe626=) c.7812C= (p.Phe2604=) c.896-30004C= c.2643C= (p.Phe881=) c.7686C= (p.Phe2562=) n.1615C= c.7815C= (p.Phe2605=)
2	g.73489771C>G	CA1714353	ALMS1	c.7431C>G (p.Phe2477Leu) c.823C>G c.4883C>G c.1878C>G (p.Phe626Leu) c.7812C>G (p.Phe2604Leu) c.896-30004C>G c.2643C>G (p.Phe881Leu) c.7686C>G (p.Phe2562Leu) n.1615C>G c.7815C>G (p.Phe2605Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489771C>T	CA426765803	ALMS1	c.7431C>T (p.Phe2477=) c.823C>T c.4883C>T c.1878C>T (p.Phe626=) c.7812C>T (p.Phe2604=) c.896-30004C>T c.2643C>T (p.Phe881=) c.7686C>T (p.Phe2562=) n.1615C>T c.7815C>T (p.Phe2605=)	gnomAD v4
2	g.73489772A>C	CA426765805	ALMS1	c.7432A>C (p.Arg2478=) c.824A>C c.4884A>C c.1879A>C (p.Arg627=) c.7813A>C (p.Arg2605=) c.896-30003A>C c.2644A>C (p.Arg882=) c.7687A>C (p.Arg2563=) n.1616A>C c.7816A>C (p.Arg2606=)
2	g.73489772A>G	CA347264121	ALMS1	c.7432A>G (p.Arg2478Gly) c.824A>G c.4884A>G c.1879A>G (p.Arg627Gly) c.7813A>G (p.Arg2605Gly) c.896-30003A>G c.2644A>G (p.Arg882Gly) c.7687A>G (p.Arg2563Gly) n.1616A>G c.7816A>G (p.Arg2606Gly)
2	g.73489772A>T	CA347264122	ALMS1	c.7432A>T (p.Arg2478Ter) c.824A>T c.4884A>T c.1879A>T (p.Arg627Ter) c.7813A>T (p.Arg2605Ter) c.896-30003A>T c.2644A>T (p.Arg882Ter) c.7687A>T (p.Arg2563Ter) n.1616A>T c.7816A>T (p.Arg2606Ter)
2	g.73489773G>A	CA347264123	ALMS1	c.7433G>A (p.Arg2478Lys) c.825G>A c.4885G>A c.1880G>A (p.Arg627Lys) c.7814G>A (p.Arg2605Lys) c.896-30002G>A c.2645G>A (p.Arg882Lys) c.7688G>A (p.Arg2563Lys) n.1617G>A c.7817G>A (p.Arg2606Lys)
2	g.73489773G>C	CA347264124	ALMS1	c.7433G>C (p.Arg2478Thr) c.825G>C c.4885G>C c.1880G>C (p.Arg627Thr) c.7814G>C (p.Arg2605Thr) c.896-30002G>C c.2645G>C (p.Arg882Thr) c.7688G>C (p.Arg2563Thr) n.1617G>C c.7817G>C (p.Arg2606Thr)
2	g.73489773G>T	CA347264125	ALMS1	c.7433G>T (p.Arg2478Ile) c.825G>T c.4885G>T c.1880G>T (p.Arg627Ile) c.7814G>T (p.Arg2605Ile) c.896-30002G>T c.2645G>T (p.Arg882Ile) c.7688G>T (p.Arg2563Ile) n.1617G>T c.7817G>T (p.Arg2606Ile)
2	g.73489774A>C	CA347264126	ALMS1	c.7434A>C (p.Arg2478Ser) c.826A>C c.4886A>C c.1881A>C (p.Arg627Ser) c.7815A>C (p.Arg2605Ser) c.896-30001A>C c.2646A>C (p.Arg882Ser) c.7689A>C (p.Arg2563Ser) n.1618A>C c.7818A>C (p.Arg2606Ser)
2	g.73489774A>G	CA426765814	ALMS1	c.7434A>G (p.Arg2478=) c.826A>G c.4886A>G c.1881A>G (p.Arg627=) c.7815A>G (p.Arg2605=) c.896-30001A>G c.2646A>G (p.Arg882=) c.7689A>G (p.Arg2563=) n.1618A>G c.7818A>G (p.Arg2606=)
2	g.73489774A>T	CA347264127	ALMS1	c.7434A>T (p.Arg2478Ser) c.826A>T c.4886A>T c.1881A>T (p.Arg627Ser) c.7815A>T (p.Arg2605Ser) c.896-30001A>T c.2646A>T (p.Arg882Ser) c.7689A>T (p.Arg2563Ser) n.1618A>T c.7818A>T (p.Arg2606Ser)
2	g.73489775T>A	CA347264128	ALMS1	c.7435T>A (p.Ser2479Thr) c.827T>A c.4887T>A c.1882T>A (p.Ser628Thr) c.7816T>A (p.Ser2606Thr) c.896-30000T>A c.2647T>A (p.Ser883Thr) c.7690T>A (p.Ser2564Thr) n.1619T>A c.7819T>A (p.Ser2607Thr)
2	g.73489775T>C	CA1714354	ALMS1	c.7435T>C (p.Ser2479Pro) c.827T>C c.4887T>C c.1882T>C (p.Ser628Pro) c.7816T>C (p.Ser2606Pro) c.896-30000T>C c.2647T>C (p.Ser883Pro) c.7690T>C (p.Ser2564Pro) n.1619T>C c.7819T>C (p.Ser2607Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489775T>G	CA347264129	ALMS1	c.7435T>G (p.Ser2479Ala) c.827T>G c.4887T>G c.1882T>G (p.Ser628Ala) c.7816T>G (p.Ser2606Ala) c.896-30000T>G c.2647T>G (p.Ser883Ala) c.7690T>G (p.Ser2564Ala) n.1619T>G c.7819T>G (p.Ser2607Ala)
2	g.73489775T=	CA1260981153	ALMS1	c.7435T= (p.Ser2479=) c.827T= c.4887T= c.1882T= (p.Ser628=) c.7816T= (p.Ser2606=) c.896-30000T= c.2647T= (p.Ser883=) c.7690T= (p.Ser2564=) n.1619T= c.7819T= (p.Ser2607=)
2	g.73489776C>A	CA347264130	ALMS1	c.7436C>A (p.Ser2479Tyr) c.828C>A c.4888C>A c.1883C>A (p.Ser628Tyr) c.7817C>A (p.Ser2606Tyr) c.896-29999C>A c.2648C>A (p.Ser883Tyr) c.7691C>A (p.Ser2564Tyr) n.1620C>A c.7820C>A (p.Ser2607Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.73489776C=	CA1260981154	ALMS1	c.7436C= (p.Ser2479=) c.828C= c.4888C= c.1883C= (p.Ser628=) c.7817C= (p.Ser2606=) c.896-29999C= c.2648C= (p.Ser883=) c.7691C= (p.Ser2564=) n.1620C= c.7820C= (p.Ser2607=)
2	g.73489776C>G	CA347264131	ALMS1	c.7436C>G (p.Ser2479Cys) c.828C>G c.4888C>G c.1883C>G (p.Ser628Cys) c.7817C>G (p.Ser2606Cys) c.896-29999C>G c.2648C>G (p.Ser883Cys) c.7691C>G (p.Ser2564Cys) n.1620C>G c.7820C>G (p.Ser2607Cys)	ClinVar
2	g.73489776C>T	CA50377518	ALMS1	c.7436C>T (p.Ser2479Phe) c.828C>T c.4888C>T c.1883C>T (p.Ser628Phe) c.7817C>T (p.Ser2606Phe) c.896-29999C>T c.2648C>T (p.Ser883Phe) c.7691C>T (p.Ser2564Phe) n.1620C>T c.7820C>T (p.Ser2607Phe)	dbSNP
2	g.73489777T>A	CA426765826	ALMS1	c.7437T>A (p.Ser2479=) c.829T>A c.4889T>A c.1884T>A (p.Ser628=) c.7818T>A (p.Ser2606=) c.896-29998T>A c.2649T>A (p.Ser883=) c.7692T>A (p.Ser2564=) n.1621T>A c.7821T>A (p.Ser2607=)
2	g.73489777T>C	CA426765828	ALMS1	c.7437T>C (p.Ser2479=) c.829T>C c.4889T>C c.1884T>C (p.Ser628=) c.7818T>C (p.Ser2606=) c.896-29998T>C c.2649T>C (p.Ser883=) c.7692T>C (p.Ser2564=) n.1621T>C c.7821T>C (p.Ser2607=)
2	g.73489777T>G	CA426765831	ALMS1	c.7437T>G (p.Ser2479=) c.829T>G c.4889T>G c.1884T>G (p.Ser628=) c.7818T>G (p.Ser2606=) c.896-29998T>G c.2649T>G (p.Ser883=) c.7692T>G (p.Ser2564=) n.1621T>G c.7821T>G (p.Ser2607=)
2	g.73489778G>A	CA347264132	ALMS1	c.7438G>A (p.Ala2480Thr) c.830G>A c.4890G>A c.1885G>A (p.Ala629Thr) c.7819G>A (p.Ala2607Thr) c.896-29997G>A c.2650G>A (p.Ala884Thr) c.7693G>A (p.Ala2565Thr) n.1622G>A c.7822G>A (p.Ala2608Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489778G>C	CA347264133	ALMS1	c.7438G>C (p.Ala2480Pro) c.830G>C c.4890G>C c.1885G>C (p.Ala629Pro) c.7819G>C (p.Ala2607Pro) c.896-29997G>C c.2650G>C (p.Ala884Pro) c.7693G>C (p.Ala2565Pro) n.1622G>C c.7822G>C (p.Ala2608Pro)	gnomAD v4
2	g.73489778G=	CA1260981155	ALMS1	c.7438G= (p.Ala2480=) c.830G= c.4890G= c.1885G= (p.Ala629=) c.7819G= (p.Ala2607=) c.896-29997G= c.2650G= (p.Ala884=) c.7693G= (p.Ala2565=) n.1622G= c.7822G= (p.Ala2608=)
2	g.73489778G>T	CA347264134	ALMS1	c.7438G>T (p.Ala2480Ser) c.830G>T c.4890G>T c.1885G>T (p.Ala629Ser) c.7819G>T (p.Ala2607Ser) c.896-29997G>T c.2650G>T (p.Ala884Ser) c.7693G>T (p.Ala2565Ser) n.1622G>T c.7822G>T (p.Ala2608Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.73489779C>A	CA347264135	ALMS1	c.7439C>A (p.Ala2480Asp) c.831C>A c.4891C>A c.1886C>A (p.Ala629Asp) c.7820C>A (p.Ala2607Asp) c.896-29996C>A c.2651C>A (p.Ala884Asp) c.7694C>A (p.Ala2565Asp) n.1623C>A c.7823C>A (p.Ala2608Asp)
2	g.73489779C=	CA1260981156	ALMS1	c.7439C= (p.Ala2480=) c.831C= c.4891C= c.1886C= (p.Ala629=) c.7820C= (p.Ala2607=) c.896-29996C= c.2651C= (p.Ala884=) c.7694C= (p.Ala2565=) n.1623C= c.7823C= (p.Ala2608=)
2	g.73489779C>G	CA1714355	ALMS1	c.7439C>G (p.Ala2480Gly) c.831C>G c.4891C>G c.1886C>G (p.Ala629Gly) c.7820C>G (p.Ala2607Gly) c.896-29996C>G c.2651C>G (p.Ala884Gly) c.7694C>G (p.Ala2565Gly) n.1623C>G c.7823C>G (p.Ala2608Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489779C>T	CA347264137	ALMS1	c.7439C>T (p.Ala2480Val) c.831C>T c.4891C>T c.1886C>T (p.Ala629Val) c.7820C>T (p.Ala2607Val) c.896-29996C>T c.2651C>T (p.Ala884Val) c.7694C>T (p.Ala2565Val) n.1623C>T c.7823C>T (p.Ala2608Val)	gnomAD v4
2	g.73489780T>A	CA426765839	ALMS1	c.7440T>A (p.Ala2480=) c.832T>A c.4892T>A c.1887T>A (p.Ala629=) c.7821T>A (p.Ala2607=) c.896-29995T>A c.2652T>A (p.Ala884=) c.7695T>A (p.Ala2565=) n.1624T>A c.7824T>A (p.Ala2608=)
2	g.73489780T>C	CA50377528	ALMS1	c.7440T>C (p.Ala2480=) c.832T>C c.4892T>C c.1887T>C (p.Ala629=) c.7821T>C (p.Ala2607=) c.896-29995T>C c.2652T>C (p.Ala884=) c.7695T>C (p.Ala2565=) n.1624T>C c.7824T>C (p.Ala2608=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489780T>G	CA426765843	ALMS1	c.7440T>G (p.Ala2480=) c.832T>G c.4892T>G c.1887T>G (p.Ala629=) c.7821T>G (p.Ala2607=) c.896-29995T>G c.2652T>G (p.Ala884=) c.7695T>G (p.Ala2565=) n.1624T>G c.7824T>G (p.Ala2608=)	ClinVar
2	g.73489780T=	CA1260981157	ALMS1	c.7440T= (p.Ala2480=) c.832T= c.4892T= c.1887T= (p.Ala629=) c.7821T= (p.Ala2607=) c.896-29995T= c.2652T= (p.Ala884=) c.7695T= (p.Ala2565=) n.1624T= c.7824T= (p.Ala2608=)
2	g.73489781G>A	CA347264139	ALMS1	c.7441G>A (p.Gly2481Arg) c.833G>A c.4893G>A c.1888G>A (p.Gly630Arg) c.7822G>A (p.Gly2608Arg) c.896-29994G>A c.2653G>A (p.Gly885Arg) c.7696G>A (p.Gly2566Arg) n.1625G>A c.7825G>A (p.Gly2609Arg)
2	g.73489781G>C	CA347264140	ALMS1	c.7441G>C (p.Gly2481Arg) c.833G>C c.4893G>C c.1888G>C (p.Gly630Arg) c.7822G>C (p.Gly2608Arg) c.896-29994G>C c.2653G>C (p.Gly885Arg) c.7696G>C (p.Gly2566Arg) n.1625G>C c.7825G>C (p.Gly2609Arg)
2	g.73489781G>T	CA347264142	ALMS1	c.7441G>T (p.Gly2481Ter) c.833G>T c.4893G>T c.1888G>T (p.Gly630Ter) c.7822G>T (p.Gly2608Ter) c.896-29994G>T c.2653G>T (p.Gly885Ter) c.7696G>T (p.Gly2566Ter) n.1625G>T c.7825G>T (p.Gly2609Ter)
2	g.73489782G>A	CA347264144	ALMS1	c.7442G>A (p.Gly2481Glu) c.834G>A c.4894G>A c.1889G>A (p.Gly630Glu) c.7823G>A (p.Gly2608Glu) c.896-29993G>A c.2654G>A (p.Gly885Glu) c.7697G>A (p.Gly2566Glu) n.1626G>A c.7826G>A (p.Gly2609Glu)
2	g.73489782G>C	CA347264146	ALMS1	c.7442G>C (p.Gly2481Ala) c.834G>C c.4894G>C c.1889G>C (p.Gly630Ala) c.7823G>C (p.Gly2608Ala) c.896-29993G>C c.2654G>C (p.Gly885Ala) c.7697G>C (p.Gly2566Ala) n.1626G>C c.7826G>C (p.Gly2609Ala)
2	g.73489782G>T	CA347264145	ALMS1	c.7442G>T (p.Gly2481Val) c.834G>T c.4894G>T c.1889G>T (p.Gly630Val) c.7823G>T (p.Gly2608Val) c.896-29993G>T c.2654G>T (p.Gly885Val) c.7697G>T (p.Gly2566Val) n.1626G>T c.7826G>T (p.Gly2609Val)
2	g.73489783A>C	CA426765852	ALMS1	c.7443A>C (p.Gly2481=) c.835A>C c.4895A>C c.1890A>C (p.Gly630=) c.7824A>C (p.Gly2608=) c.896-29992A>C c.2655A>C (p.Gly885=) c.7698A>C (p.Gly2566=) n.1627A>C c.7827A>C (p.Gly2609=)
2	g.73489783A>G	CA426765861	ALMS1	c.7443A>G (p.Gly2481=) c.835A>G c.4895A>G c.1890A>G (p.Gly630=) c.7824A>G (p.Gly2608=) c.896-29992A>G c.2655A>G (p.Gly885=) c.7698A>G (p.Gly2566=) n.1627A>G c.7827A>G (p.Gly2609=)
2	g.73489783A>T	CA426765858	ALMS1	c.7443A>T (p.Gly2481=) c.835A>T c.4895A>T c.1890A>T (p.Gly630=) c.7824A>T (p.Gly2608=) c.896-29992A>T c.2655A>T (p.Gly885=) c.7698A>T (p.Gly2566=) n.1627A>T c.7827A>T (p.Gly2609=)
2	g.73489783_73489784del	CA913090800	ALMS1	c.7443_7444del (p.Pro2482LeufsTer?) c.835_836del c.4895_4896del c.1890_1891del (p.Pro631LeufsTer?) c.7824_7825del (p.Pro2609LeufsTer?) c.896-29992_896-29991del c.2655_2656del (p.Pro886LeufsTer?) c.7698_7699del (p.Pro2567LeufsTer?) n.1627_1628del c.7827_7828del (p.Pro2610LeufsTer?)
2	g.73489783_73489784delinsAC	CA1260981158	ALMS1	c.7443_7444delinsAC (p.Gly2481=) c.835_836delinsAC c.4895_4896delinsAC c.1890_1891delinsAC (p.Gly630=) c.7824_7825delinsAC (p.Gly2608=) c.896-29992_896-29991delinsAC c.2655_2656delinsAC (p.Gly885=) c.7698_7699delinsAC (p.Gly2566=) n.1627_1628delinsAC c.7827_7828delinsAC (p.Gly2609=)
2	g.73489784C>A	CA347264148	ALMS1	c.7444C>A (p.Pro2482Thr) c.836C>A c.4896C>A c.1891C>A (p.Pro631Thr) c.7825C>A (p.Pro2609Thr) c.896-29991C>A c.2656C>A (p.Pro886Thr) c.7699C>A (p.Pro2567Thr) n.1628C>A c.7828C>A (p.Pro2610Thr)	ClinVar dbSNP gnomAD v4
2	g.73489784C>G	CA347264149	ALMS1	c.7444C>G (p.Pro2482Ala) c.836C>G c.4896C>G c.1891C>G (p.Pro631Ala) c.7825C>G (p.Pro2609Ala) c.896-29991C>G c.2656C>G (p.Pro886Ala) c.7699C>G (p.Pro2567Ala) n.1628C>G c.7828C>G (p.Pro2610Ala)	gnomAD v4
2	g.73489784C>T	CA347264151	ALMS1	c.7444C>T (p.Pro2482Ser) c.836C>T c.4896C>T c.1891C>T (p.Pro631Ser) c.7825C>T (p.Pro2609Ser) c.896-29991C>T c.2656C>T (p.Pro886Ser) c.7699C>T (p.Pro2567Ser) n.1628C>T c.7828C>T (p.Pro2610Ser)
2	g.73489786del	CA658821971	ALMS1	c.7446del (p.Ser2483GlnfsTer3) c.838del c.4898del c.1893del (p.Ser632GlnfsTer3) c.7827del (p.Ser2610GlnfsTer3) c.896-29989del c.2658del (p.Ser887GlnfsTer3) c.7701del (p.Ser2568GlnfsTer3) n.1630del c.7830del (p.Ser2611GlnfsTer3)	ClinVar dbSNP
2	g.73489785C>A	CA347264153	ALMS1	c.7445C>A (p.Pro2482His) c.837C>A c.4897C>A c.1892C>A (p.Pro631His) c.7826C>A (p.Pro2609His) c.896-29990C>A c.2657C>A (p.Pro886His) c.7700C>A (p.Pro2567His) n.1629C>A c.7829C>A (p.Pro2610His)
2	g.73489785C>G	CA347264154	ALMS1	c.7445C>G (p.Pro2482Arg) c.837C>G c.4897C>G c.1892C>G (p.Pro631Arg) c.7826C>G (p.Pro2609Arg) c.896-29990C>G c.2657C>G (p.Pro886Arg) c.7700C>G (p.Pro2567Arg) n.1629C>G c.7829C>G (p.Pro2610Arg)
2	g.73489785C>T	CA347264156	ALMS1	c.7445C>T (p.Pro2482Leu) c.837C>T c.4897C>T c.1892C>T (p.Pro631Leu) c.7826C>T (p.Pro2609Leu) c.896-29990C>T c.2657C>T (p.Pro886Leu) c.7700C>T (p.Pro2567Leu) n.1629C>T c.7829C>T (p.Pro2610Leu)
2	g.73489786C>A	CA426765867	ALMS1	c.7446C>A (p.Pro2482=) c.838C>A c.4898C>A c.1893C>A (p.Pro631=) c.7827C>A (p.Pro2609=) c.896-29989C>A c.2658C>A (p.Pro886=) c.7701C>A (p.Pro2567=) n.1630C>A c.7830C>A (p.Pro2610=)
2	g.73489786C>G	CA426765868	ALMS1	c.7446C>G (p.Pro2482=) c.838C>G c.4898C>G c.1893C>G (p.Pro631=) c.7827C>G (p.Pro2609=) c.896-29989C>G c.2658C>G (p.Pro886=) c.7701C>G (p.Pro2567=) n.1630C>G c.7830C>G (p.Pro2610=)
2	g.73489786C>T	CA426765869	ALMS1	c.7446C>T (p.Pro2482=) c.838C>T c.4898C>T c.1893C>T (p.Pro631=) c.7827C>T (p.Pro2609=) c.896-29989C>T c.2658C>T (p.Pro886=) c.7701C>T (p.Pro2567=) n.1630C>T c.7830C>T (p.Pro2610=)
2	g.73489787T>A	CA347264158	ALMS1	c.7447T>A (p.Ser2483Thr) c.839T>A c.4899T>A c.1894T>A (p.Ser632Thr) c.7828T>A (p.Ser2610Thr) c.896-29988T>A c.2659T>A (p.Ser887Thr) c.7702T>A (p.Ser2568Thr) n.1631T>A c.7831T>A (p.Ser2611Thr)
2	g.73489787T>C	CA347264159	ALMS1	c.7447T>C (p.Ser2483Pro) c.839T>C c.4899T>C c.1894T>C (p.Ser632Pro) c.7828T>C (p.Ser2610Pro) c.896-29988T>C c.2659T>C (p.Ser887Pro) c.7702T>C (p.Ser2568Pro) n.1631T>C c.7831T>C (p.Ser2611Pro)	dbSNP
2	g.73489787T>G	CA347264161	ALMS1	c.7447T>G (p.Ser2483Ala) c.839T>G c.4899T>G c.1894T>G (p.Ser632Ala) c.7828T>G (p.Ser2610Ala) c.896-29988T>G c.2659T>G (p.Ser887Ala) c.7702T>G (p.Ser2568Ala) n.1631T>G c.7831T>G (p.Ser2611Ala)
2	g.73489787T=	CA1260981159	ALMS1	c.7447T= (p.Ser2483=) c.839T= c.4899T= c.1894T= (p.Ser632=) c.7828T= (p.Ser2610=) c.896-29988T= c.2659T= (p.Ser887=) c.7702T= (p.Ser2568=) n.1631T= c.7831T= (p.Ser2611=)
2	g.73489788C>A	CA347264164	ALMS1	c.7448C>A (p.Ser2483Ter) c.840C>A c.4900C>A c.1895C>A (p.Ser632Ter) c.7829C>A (p.Ser2610Ter) c.896-29987C>A c.2660C>A (p.Ser887Ter) c.7703C>A (p.Ser2568Ter) n.1632C>A c.7832C>A (p.Ser2611Ter)
2	g.73489788C>G	CA347264166	ALMS1	c.7448C>G (p.Ser2483Ter) c.840C>G c.4900C>G c.1895C>G (p.Ser632Ter) c.7829C>G (p.Ser2610Ter) c.896-29987C>G c.2660C>G (p.Ser887Ter) c.7703C>G (p.Ser2568Ter) n.1632C>G c.7832C>G (p.Ser2611Ter)
2	g.73489788C>T	CA347264162	ALMS1	c.7448C>T (p.Ser2483Leu) c.840C>T c.4900C>T c.1895C>T (p.Ser632Leu) c.7829C>T (p.Ser2610Leu) c.896-29987C>T c.2660C>T (p.Ser887Leu) c.7703C>T (p.Ser2568Leu) n.1632C>T c.7832C>T (p.Ser2611Leu)	gnomAD v4
2	g.73489789A>C	CA426765878	ALMS1	c.7449A>C (p.Ser2483=) c.841A>C c.4901A>C c.1896A>C (p.Ser632=) c.7830A>C (p.Ser2610=) c.896-29986A>C c.2661A>C (p.Ser887=) c.7704A>C (p.Ser2568=) n.1633A>C c.7833A>C (p.Ser2611=)
2	g.73489789A>G	CA426765879	ALMS1	c.7449A>G (p.Ser2483=) c.841A>G c.4901A>G c.1896A>G (p.Ser632=) c.7830A>G (p.Ser2610=) c.896-29986A>G c.2661A>G (p.Ser887=) c.7704A>G (p.Ser2568=) n.1633A>G c.7833A>G (p.Ser2611=)	ClinVar
2	g.73489789A>T	CA426765880	ALMS1	c.7449A>T (p.Ser2483=) c.841A>T c.4901A>T c.1896A>T (p.Ser632=) c.7830A>T (p.Ser2610=) c.896-29986A>T c.2661A>T (p.Ser887=) c.7704A>T (p.Ser2568=) n.1633A>T c.7833A>T (p.Ser2611=)
2	g.73489790G>A	CA347264167	ALMS1	c.7450G>A (p.Glu2484Lys) c.842G>A c.4902G>A c.1897G>A (p.Glu633Lys) c.7831G>A (p.Glu2611Lys) c.896-29985G>A c.2662G>A (p.Glu888Lys) c.7705G>A (p.Glu2569Lys) n.1634G>A c.7834G>A (p.Glu2612Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.73489790G>C	CA347264169	ALMS1	c.7450G>C (p.Glu2484Gln) c.842G>C c.4902G>C c.1897G>C (p.Glu633Gln) c.7831G>C (p.Glu2611Gln) c.896-29985G>C c.2662G>C (p.Glu888Gln) c.7705G>C (p.Glu2569Gln) n.1634G>C c.7834G>C (p.Glu2612Gln)
2	g.73489790G=	CA1260981160	ALMS1	c.7450G= (p.Glu2484=) c.842G= c.4902G= c.1897G= (p.Glu633=) c.7831G= (p.Glu2611=) c.896-29985G= c.2662G= (p.Glu888=) c.7705G= (p.Glu2569=) n.1634G= c.7834G= (p.Glu2612=)
2	g.73489790G>T	CA347264170	ALMS1	c.7450G>T (p.Glu2484Ter) c.842G>T c.4902G>T c.1897G>T (p.Glu633Ter) c.7831G>T (p.Glu2611Ter) c.896-29985G>T c.2662G>T (p.Glu888Ter) c.7705G>T (p.Glu2569Ter) n.1634G>T c.7834G>T (p.Glu2612Ter)
2	g.73489791A>C	CA347264172	ALMS1	c.7451A>C (p.Glu2484Ala) c.843A>C c.4903A>C c.1898A>C (p.Glu633Ala) c.7832A>C (p.Glu2611Ala) c.896-29984A>C c.2663A>C (p.Glu888Ala) c.7706A>C (p.Glu2569Ala) n.1635A>C c.7835A>C (p.Glu2612Ala)
2	g.73489791A>G	CA347264174	ALMS1	c.7451A>G (p.Glu2484Gly) c.843A>G c.4903A>G c.1898A>G (p.Glu633Gly) c.7832A>G (p.Glu2611Gly) c.896-29984A>G c.2663A>G (p.Glu888Gly) c.7706A>G (p.Glu2569Gly) n.1635A>G c.7835A>G (p.Glu2612Gly)
2	g.73489791A>T	CA347264175	ALMS1	c.7451A>T (p.Glu2484Val) c.843A>T c.4903A>T c.1898A>T (p.Glu633Val) c.7832A>T (p.Glu2611Val) c.896-29984A>T c.2663A>T (p.Glu888Val) c.7706A>T (p.Glu2569Val) n.1635A>T c.7835A>T (p.Glu2612Val)
2	g.73489792A>C	CA347264178	ALMS1	c.7452A>C (p.Glu2484Asp) c.844A>C c.4904A>C c.1899A>C (p.Glu633Asp) c.7833A>C (p.Glu2611Asp) c.896-29983A>C c.2664A>C (p.Glu888Asp) c.7707A>C (p.Glu2569Asp) n.1636A>C c.7836A>C (p.Glu2612Asp)
2	g.73489792A>G	CA426765890	ALMS1	c.7452A>G (p.Glu2484=) c.844A>G c.4904A>G c.1899A>G (p.Glu633=) c.7833A>G (p.Glu2611=) c.896-29983A>G c.2664A>G (p.Glu888=) c.7707A>G (p.Glu2569=) n.1636A>G c.7836A>G (p.Glu2612=)
2	g.73489792A>T	CA347264176	ALMS1	c.7452A>T (p.Glu2484Asp) c.844A>T c.4904A>T c.1899A>T (p.Glu633Asp) c.7833A>T (p.Glu2611Asp) c.896-29983A>T c.2664A>T (p.Glu888Asp) c.7707A>T (p.Glu2569Asp) n.1636A>T c.7836A>T (p.Glu2612Asp)
2	g.73489793A>C	CA347264180	ALMS1	c.7453A>C (p.Met2485Leu) c.845A>C c.4905A>C c.1900A>C (p.Met634Leu) c.7834A>C (p.Met2612Leu) c.896-29982A>C c.2665A>C (p.Met889Leu) c.7708A>C (p.Met2570Leu) n.1637A>C c.7837A>C (p.Met2613Leu)
2	g.73489793A>G	CA347264181	ALMS1	c.7453A>G (p.Met2485Val) c.845A>G c.4905A>G c.1900A>G (p.Met634Val) c.7834A>G (p.Met2612Val) c.896-29982A>G c.2665A>G (p.Met889Val) c.7708A>G (p.Met2570Val) n.1637A>G c.7837A>G (p.Met2613Val)
2	g.73489793A>T	CA347264183	ALMS1	c.7453A>T (p.Met2485Leu) c.845A>T c.4905A>T c.1900A>T (p.Met634Leu) c.7834A>T (p.Met2612Leu) c.896-29982A>T c.2665A>T (p.Met889Leu) c.7708A>T (p.Met2570Leu) n.1637A>T c.7837A>T (p.Met2613Leu)
2	g.73489794T>A	CA347264185	ALMS1	c.7454T>A (p.Met2485Lys) c.846T>A c.4906T>A c.1901T>A (p.Met634Lys) c.7835T>A (p.Met2612Lys) c.896-29981T>A c.2666T>A (p.Met889Lys) c.7709T>A (p.Met2570Lys) n.1638T>A c.7838T>A (p.Met2613Lys)
2	g.73489794T>C	CA347264186	ALMS1	c.7454T>C (p.Met2485Thr) c.846T>C c.4906T>C c.1901T>C (p.Met634Thr) c.7835T>C (p.Met2612Thr) c.896-29981T>C c.2666T>C (p.Met889Thr) c.7709T>C (p.Met2570Thr) n.1638T>C c.7838T>C (p.Met2613Thr)
2	g.73489794T>G	CA347264188	ALMS1	c.7454T>G (p.Met2485Arg) c.846T>G c.4906T>G c.1901T>G (p.Met634Arg) c.7835T>G (p.Met2612Arg) c.896-29981T>G c.2666T>G (p.Met889Arg) c.7709T>G (p.Met2570Arg) n.1638T>G c.7838T>G (p.Met2613Arg)
2	g.73489795G>A	CA347265884	ALMS1	c.7455G>A (p.Met2485Ile) c.847G>A c.4907G>A c.1902G>A (p.Met634Ile) c.7836G>A (p.Met2612Ile) c.896-29980G>A c.2667G>A (p.Met889Ile) c.7710G>A (p.Met2570Ile) n.1639G>A c.7839G>A (p.Met2613Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73489795G>C	CA347265889	ALMS1	c.7455G>C (p.Met2485Ile) c.847G>C c.4907G>C c.1902G>C (p.Met634Ile) c.7836G>C (p.Met2612Ile) c.896-29980G>C c.2667G>C (p.Met889Ile) c.7710G>C (p.Met2570Ile) n.1639G>C c.7839G>C (p.Met2613Ile)
2	g.73489795G=	CA1260981161	ALMS1	c.7455G= (p.Met2485=) c.847G= c.4907G= c.1902G= (p.Met634=) c.7836G= (p.Met2612=) c.896-29980G= c.2667G= (p.Met889=) c.7710G= (p.Met2570=) n.1639G= c.7839G= (p.Met2613=)
2	g.73489795G>T	CA347265887	ALMS1	c.7455G>T (p.Met2485Ile) c.847G>T c.4907G>T c.1902G>T (p.Met634Ile) c.7836G>T (p.Met2612Ile) c.896-29980G>T c.2667G>T (p.Met889Ile) c.7710G>T (p.Met2570Ile) n.1639G>T c.7839G>T (p.Met2613Ile)	gnomAD v4
2	g.73489796A>C	CA347265890	ALMS1	c.7456A>C (p.Thr2486Pro) c.848A>C c.4908A>C c.1903A>C (p.Thr635Pro) c.7837A>C (p.Thr2613Pro) c.896-29979A>C c.2668A>C (p.Thr890Pro) c.7711A>C (p.Thr2571Pro) n.1640A>C c.7840A>C (p.Thr2614Pro)
2	g.73489796A>G	CA347265895	ALMS1	c.7456A>G (p.Thr2486Ala) c.848A>G c.4908A>G c.1903A>G (p.Thr635Ala) c.7837A>G (p.Thr2613Ala) c.896-29979A>G c.2668A>G (p.Thr890Ala) c.7711A>G (p.Thr2571Ala) n.1640A>G c.7840A>G (p.Thr2614Ala)
2	g.73489796A>T	CA347265899	ALMS1	c.7456A>T (p.Thr2486Ser) c.848A>T c.4908A>T c.1903A>T (p.Thr635Ser) c.7837A>T (p.Thr2613Ser) c.896-29979A>T c.2668A>T (p.Thr890Ser) c.7711A>T (p.Thr2571Ser) n.1640A>T c.7840A>T (p.Thr2614Ser)	gnomAD v4
2	g.73489797C>A	CA347265904	ALMS1	c.7457C>A (p.Thr2486Asn) c.849C>A c.4909C>A c.1904C>A (p.Thr635Asn) c.7838C>A (p.Thr2613Asn) c.896-29978C>A c.2669C>A (p.Thr890Asn) c.7712C>A (p.Thr2571Asn) n.1641C>A c.7841C>A (p.Thr2614Asn)
2	g.73489797C>G	CA347265909	ALMS1	c.7457C>G (p.Thr2486Ser) c.849C>G c.4909C>G c.1904C>G (p.Thr635Ser) c.7838C>G (p.Thr2613Ser) c.896-29978C>G c.2669C>G (p.Thr890Ser) c.7712C>G (p.Thr2571Ser) n.1641C>G c.7841C>G (p.Thr2614Ser)
2	g.73489797C>T	CA347265911	ALMS1	c.7457C>T (p.Thr2486Ile) c.849C>T c.4909C>T c.1904C>T (p.Thr635Ile) c.7838C>T (p.Thr2613Ile) c.896-29978C>T c.2669C>T (p.Thr890Ile) c.7712C>T (p.Thr2571Ile) n.1641C>T c.7841C>T (p.Thr2614Ile)	gnomAD v4
2	g.73489798C>A	CA427000635	ALMS1	c.7458C>A (p.Thr2486=) c.850C>A c.4910C>A c.1905C>A (p.Thr635=) c.7839C>A (p.Thr2613=) c.896-29977C>A c.2670C>A (p.Thr890=) c.7713C>A (p.Thr2571=) n.1642C>A c.7842C>A (p.Thr2614=)	ClinVar dbSNP
2	g.73489798C=	CA1260981162	ALMS1	c.7458C= (p.Thr2486=) c.850C= c.4910C= c.1905C= (p.Thr635=) c.7839C= (p.Thr2613=) c.896-29977C= c.2670C= (p.Thr890=) c.7713C= (p.Thr2571=) n.1642C= c.7842C= (p.Thr2614=)
2	g.73489798C>G	CA427000636	ALMS1	c.7458C>G (p.Thr2486=) c.850C>G c.4910C>G c.1905C>G (p.Thr635=) c.7839C>G (p.Thr2613=) c.896-29977C>G c.2670C>G (p.Thr890=) c.7713C>G (p.Thr2571=) n.1642C>G c.7842C>G (p.Thr2614=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73489798C>T	CA1714356	ALMS1	c.7458C>T (p.Thr2486=) c.850C>T c.4910C>T c.1905C>T (p.Thr635=) c.7839C>T (p.Thr2613=) c.896-29977C>T c.2670C>T (p.Thr890=) c.7713C>T (p.Thr2571=) n.1642C>T c.7842C>T (p.Thr2614=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73489799_73489805del	CA2586969426	ALMS1	c.7459_7465del (p.Arg2487GlyfsTer18) c.851_857del c.4911_4917del c.1906_1912del (p.Arg636GlyfsTer18) c.7840_7846del (p.Arg2614GlyfsTer18) c.896-29976_896-29970del c.2671_2677del (p.Arg891GlyfsTer18) c.7714_7720del (p.Arg2572GlyfsTer18) n.1643_1649del c.7843_7849del (p.Arg2615GlyfsTer18)
2	g.73489799A=	CA1260981163	ALMS1	c.7459A= (p.Arg2487=) c.851A= c.4911A= c.1906A= (p.Arg636=) c.7840A= (p.Arg2614=) c.896-29976A= c.2671A= (p.Arg891=) c.7714A= (p.Arg2572=) n.1643A= c.7843A= (p.Arg2615=)
2	g.73489799A>C	CA427000637	ALMS1	c.7459A>C (p.Arg2487=) c.851A>C c.4911A>C c.1906A>C (p.Arg636=) c.7840A>C (p.Arg2614=) c.896-29976A>C c.2671A>C (p.Arg891=) c.7714A>C (p.Arg2572=) n.1643A>C c.7843A>C (p.Arg2615=)
2	g.73489799A>G	CA1714357	ALMS1	c.7459A>G (p.Arg2487Gly) c.851A>G c.4911A>G c.1906A>G (p.Arg636Gly) c.7840A>G (p.Arg2614Gly) c.896-29976A>G c.2671A>G (p.Arg891Gly) c.7714A>G (p.Arg2572Gly) n.1643A>G c.7843A>G (p.Arg2615Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489799A>T	CA347265920	ALMS1	c.7459A>T (p.Arg2487Ter) c.851A>T c.4911A>T c.1906A>T (p.Arg636Ter) c.7840A>T (p.Arg2614Ter) c.896-29976A>T c.2671A>T (p.Arg891Ter) c.7714A>T (p.Arg2572Ter) n.1643A>T c.7843A>T (p.Arg2615Ter)
2	g.73489800G>A	CA347265923	ALMS1	c.7460G>A (p.Arg2487Lys) c.852G>A c.4912G>A c.1907G>A (p.Arg636Lys) c.7841G>A (p.Arg2614Lys) c.896-29975G>A c.2672G>A (p.Arg891Lys) c.7715G>A (p.Arg2572Lys) n.1644G>A c.7844G>A (p.Arg2615Lys)	ClinVar
2	g.73489800G>C	CA50377544	ALMS1	c.7460G>C (p.Arg2487Thr) c.852G>C c.4912G>C c.1907G>C (p.Arg636Thr) c.7841G>C (p.Arg2614Thr) c.896-29975G>C c.2672G>C (p.Arg891Thr) c.7715G>C (p.Arg2572Thr) n.1644G>C c.7844G>C (p.Arg2615Thr)	dbSNP
2	g.73489800G=	CA1260981164	ALMS1	c.7460G= (p.Arg2487=) c.852G= c.4912G= c.1907G= (p.Arg636=) c.7841G= (p.Arg2614=) c.896-29975G= c.2672G= (p.Arg891=) c.7715G= (p.Arg2572=) n.1644G= c.7844G= (p.Arg2615=)
2	g.73489800G>T	CA347265926	ALMS1	c.7460G>T (p.Arg2487Ile) c.852G>T c.4912G>T c.1907G>T (p.Arg636Ile) c.7841G>T (p.Arg2614Ile) c.896-29975G>T c.2672G>T (p.Arg891Ile) c.7715G>T (p.Arg2572Ile) n.1644G>T c.7844G>T (p.Arg2615Ile)
2	g.73489801A=	CA1260981165	ALMS1	c.7461A= (p.Arg2487=) c.853A= c.4913A= c.1908A= (p.Arg636=) c.7842A= (p.Arg2614=) c.896-29974A= c.2673A= (p.Arg891=) c.7716A= (p.Arg2572=) n.1645A= c.7845A= (p.Arg2615=)
2	g.73489801A>C	CA347265931	ALMS1	c.7461A>C (p.Arg2487Ser) c.853A>C c.4913A>C c.1908A>C (p.Arg636Ser) c.7842A>C (p.Arg2614Ser) c.896-29974A>C c.2673A>C (p.Arg891Ser) c.7716A>C (p.Arg2572Ser) n.1645A>C c.7845A>C (p.Arg2615Ser)
2	g.73489801A>G	CA427000638	ALMS1	c.7461A>G (p.Arg2487=) c.853A>G c.4913A>G c.1908A>G (p.Arg636=) c.7842A>G (p.Arg2614=) c.896-29974A>G c.2673A>G (p.Arg891=) c.7716A>G (p.Arg2572=) n.1645A>G c.7845A>G (p.Arg2615=)	dbSNP gnomAD v4
2	g.73489801A>T	CA347265928	ALMS1	c.7461A>T (p.Arg2487Ser) c.853A>T c.4913A>T c.1908A>T (p.Arg636Ser) c.7842A>T (p.Arg2614Ser) c.896-29974A>T c.2673A>T (p.Arg891Ser) c.7716A>T (p.Arg2572Ser) n.1645A>T c.7845A>T (p.Arg2615Ser)
2	g.73489802G>A	CA347265934	ALMS1	c.7462G>A (p.Gly2488Arg) c.854G>A c.4914G>A c.1909G>A (p.Gly637Arg) c.7843G>A (p.Gly2615Arg) c.896-29973G>A c.2674G>A (p.Gly892Arg) c.7717G>A (p.Gly2573Arg) n.1646G>A c.7846G>A (p.Gly2616Arg)	ClinVar
2	g.73489802G>C	CA347265938	ALMS1	c.7462G>C (p.Gly2488Arg) c.854G>C c.4914G>C c.1909G>C (p.Gly637Arg) c.7843G>C (p.Gly2615Arg) c.896-29973G>C c.2674G>C (p.Gly892Arg) c.7717G>C (p.Gly2573Arg) n.1646G>C c.7846G>C (p.Gly2616Arg)
2	g.73489802G>T	CA347265936	ALMS1	c.7462G>T (p.Gly2488Ter) c.854G>T c.4914G>T c.1909G>T (p.Gly637Ter) c.7843G>T (p.Gly2615Ter) c.896-29973G>T c.2674G>T (p.Gly892Ter) c.7717G>T (p.Gly2573Ter) n.1646G>T c.7846G>T (p.Gly2616Ter)
2	g.73489803G>A	CA347265941	ALMS1	c.7463G>A (p.Gly2488Glu) c.855G>A c.4915G>A c.1910G>A (p.Gly637Glu) c.7844G>A (p.Gly2615Glu) c.896-29972G>A c.2675G>A (p.Gly892Glu) c.7718G>A (p.Gly2573Glu) n.1647G>A c.7847G>A (p.Gly2616Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73489803G>C	CA347265946	ALMS1	c.7463G>C (p.Gly2488Ala) c.855G>C c.4915G>C c.1910G>C (p.Gly637Ala) c.7844G>C (p.Gly2615Ala) c.896-29972G>C c.2675G>C (p.Gly892Ala) c.7718G>C (p.Gly2573Ala) n.1647G>C c.7847G>C (p.Gly2616Ala)
2	g.73489803G=	CA1260981166	ALMS1	c.7463G= (p.Gly2488=) c.855G= c.4915G= c.1910G= (p.Gly637=) c.7844G= (p.Gly2615=) c.896-29972G= c.2675G= (p.Gly892=) c.7718G= (p.Gly2573=) n.1647G= c.7847G= (p.Gly2616=)
2	g.73489803G>T	CA347265944	ALMS1	c.7463G>T (p.Gly2488Val) c.855G>T c.4915G>T c.1910G>T (p.Gly637Val) c.7844G>T (p.Gly2615Val) c.896-29972G>T c.2675G>T (p.Gly892Val) c.7718G>T (p.Gly2573Val) n.1647G>T c.7847G>T (p.Gly2616Val)
2	g.73489804A>C	CA427000640	ALMS1	c.7464A>C (p.Gly2488=) c.856A>C c.4916A>C c.1911A>C (p.Gly637=) c.7845A>C (p.Gly2615=) c.896-29971A>C c.2676A>C (p.Gly892=) c.7719A>C (p.Gly2573=) n.1648A>C c.7848A>C (p.Gly2616=)
2	g.73489804A>G	CA427000641	ALMS1	c.7464A>G (p.Gly2488=) c.856A>G c.4916A>G c.1911A>G (p.Gly637=) c.7845A>G (p.Gly2615=) c.896-29971A>G c.2676A>G (p.Gly892=) c.7719A>G (p.Gly2573=) n.1648A>G c.7848A>G (p.Gly2616=)	gnomAD v4
2	g.73489804A>T	CA427000639	ALMS1	c.7464A>T (p.Gly2488=) c.856A>T c.4916A>T c.1911A>T (p.Gly637=) c.7845A>T (p.Gly2615=) c.896-29971A>T c.2676A>T (p.Gly892=) c.7719A>T (p.Gly2573=) n.1648A>T c.7848A>T (p.Gly2616=)
2	g.73489805C>A	CA427000642	ALMS1	c.7465C>A (p.Arg2489=) c.857C>A c.4917C>A c.1912C>A (p.Arg638=) c.7846C>A (p.Arg2616=) c.896-29970C>A c.2677C>A (p.Arg893=) c.7720C>A (p.Arg2574=) n.1649C>A c.7849C>A (p.Arg2617=)	gnomAD v4
2	g.73489805C=	CA1260981167	ALMS1	c.7465C= (p.Arg2489=) c.857C= c.4917C= c.1912C= (p.Arg638=) c.7846C= (p.Arg2616=) c.896-29970C= c.2677C= (p.Arg893=) c.7720C= (p.Arg2574=) n.1649C= c.7849C= (p.Arg2617=)
2	g.73489805C>G	CA347265948	ALMS1	c.7465C>G (p.Arg2489Gly) c.857C>G c.4917C>G c.1912C>G (p.Arg638Gly) c.7846C>G (p.Arg2616Gly) c.896-29970C>G c.2677C>G (p.Arg893Gly) c.7720C>G (p.Arg2574Gly) n.1649C>G c.7849C>G (p.Arg2617Gly)
2	g.73489805C>T	CA1714358	ALMS1	c.7465C>T (p.Arg2489Trp) c.857C>T c.4917C>T c.1912C>T (p.Arg638Trp) c.7846C>T (p.Arg2616Trp) c.896-29970C>T c.2677C>T (p.Arg893Trp) c.7720C>T (p.Arg2574Trp) n.1649C>T c.7849C>T (p.Arg2617Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489806G>A	CA347265954	ALMS1	c.7466G>A (p.Arg2489Gln) c.858G>A c.4918G>A c.1913G>A (p.Arg638Gln) c.7847G>A (p.Arg2616Gln) c.896-29969G>A c.2678G>A (p.Arg893Gln) c.7721G>A (p.Arg2574Gln) n.1650G>A c.7850G>A (p.Arg2617Gln)	ClinVar dbSNP gnomAD v4
2	g.73489806G>C	CA347265957	ALMS1	c.7466G>C (p.Arg2489Pro) c.858G>C c.4918G>C c.1913G>C (p.Arg638Pro) c.7847G>C (p.Arg2616Pro) c.896-29969G>C c.2678G>C (p.Arg893Pro) c.7721G>C (p.Arg2574Pro) n.1650G>C c.7850G>C (p.Arg2617Pro)
2	g.73489806G=	CA1260981168	ALMS1	c.7466G= (p.Arg2489=) c.858G= c.4918G= c.1913G= (p.Arg638=) c.7847G= (p.Arg2616=) c.896-29969G= c.2678G= (p.Arg893=) c.7721G= (p.Arg2574=) n.1650G= c.7850G= (p.Arg2617=)
2	g.73489806G>T	CA347265959	ALMS1	c.7466G>T (p.Arg2489Leu) c.858G>T c.4918G>T c.1913G>T (p.Arg638Leu) c.7847G>T (p.Arg2616Leu) c.896-29969G>T c.2678G>T (p.Arg893Leu) c.7721G>T (p.Arg2574Leu) n.1650G>T c.7850G>T (p.Arg2617Leu)
2	g.73489807G>A	CA427000643	ALMS1	c.7467G>A (p.Arg2489=) c.859G>A c.4919G>A c.1914G>A (p.Arg638=) c.7848G>A (p.Arg2616=) c.896-29968G>A c.2679G>A (p.Arg893=) c.7722G>A (p.Arg2574=) n.1651G>A c.7851G>A (p.Arg2617=)
2	g.73489807G>C	CA427000644	ALMS1	c.7467G>C (p.Arg2489=) c.859G>C c.4919G>C c.1914G>C (p.Arg638=) c.7848G>C (p.Arg2616=) c.896-29968G>C c.2679G>C (p.Arg893=) c.7722G>C (p.Arg2574=) n.1651G>C c.7851G>C (p.Arg2617=)
2	g.73489807G>T	CA427000645	ALMS1	c.7467G>T (p.Arg2489=) c.859G>T c.4919G>T c.1914G>T (p.Arg638=) c.7848G>T (p.Arg2616=) c.896-29968G>T c.2679G>T (p.Arg893=) c.7722G>T (p.Arg2574=) n.1651G>T c.7851G>T (p.Arg2617=)	gnomAD v4
2	g.73489808C>A	CA347265962	ALMS1	c.7468C>A (p.Gln2490Lys) c.860C>A c.4920C>A c.1915C>A (p.Gln639Lys) c.7849C>A (p.Gln2617Lys) c.896-29967C>A c.2680C>A (p.Gln894Lys) c.7723C>A (p.Gln2575Lys) n.1652C>A c.7852C>A (p.Gln2618Lys)
2	g.73489808C>G	CA347265965	ALMS1	c.7468C>G (p.Gln2490Glu) c.860C>G c.4920C>G c.1915C>G (p.Gln639Glu) c.7849C>G (p.Gln2617Glu) c.896-29967C>G c.2680C>G (p.Gln894Glu) c.7723C>G (p.Gln2575Glu) n.1652C>G c.7852C>G (p.Gln2618Glu)
2	g.73489808C>T	CA347265967	ALMS1	c.7468C>T (p.Gln2490Ter) c.860C>T c.4920C>T c.1915C>T (p.Gln639Ter) c.7849C>T (p.Gln2617Ter) c.896-29967C>T c.2680C>T (p.Gln894Ter) c.7723C>T (p.Gln2575Ter) n.1652C>T c.7852C>T (p.Gln2618Ter)
2	g.73489809A=	CA1260981169	ALMS1	c.7469A= (p.Gln2490=) c.861A= c.4921A= c.1916A= (p.Gln639=) c.7850A= (p.Gln2617=) c.896-29966A= c.2681A= (p.Gln894=) c.7724A= (p.Gln2575=) n.1653A= c.7853A= (p.Gln2618=)
2	g.73489809A>C	CA347265969	ALMS1	c.7469A>C (p.Gln2490Pro) c.861A>C c.4921A>C c.1916A>C (p.Gln639Pro) c.7850A>C (p.Gln2617Pro) c.896-29966A>C c.2681A>C (p.Gln894Pro) c.7724A>C (p.Gln2575Pro) n.1653A>C c.7853A>C (p.Gln2618Pro)
2	g.73489809A>G	CA1714359	ALMS1	c.7469A>G (p.Gln2490Arg) c.861A>G c.4921A>G c.1916A>G (p.Gln639Arg) c.7850A>G (p.Gln2617Arg) c.896-29966A>G c.2681A>G (p.Gln894Arg) c.7724A>G (p.Gln2575Arg) n.1653A>G c.7853A>G (p.Gln2618Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489809A>T	CA347265974	ALMS1	c.7469A>T (p.Gln2490Leu) c.861A>T c.4921A>T c.1916A>T (p.Gln639Leu) c.7850A>T (p.Gln2617Leu) c.896-29966A>T c.2681A>T (p.Gln894Leu) c.7724A>T (p.Gln2575Leu) n.1653A>T c.7853A>T (p.Gln2618Leu)
2	g.73489810G>A	CA427000646	ALMS1	c.7470G>A (p.Gln2490=) c.862G>A c.4922G>A c.1917G>A (p.Gln639=) c.7851G>A (p.Gln2617=) c.896-29965G>A c.2682G>A (p.Gln894=) c.7725G>A (p.Gln2575=) n.1654G>A c.7854G>A (p.Gln2618=)	dbSNP gnomAD v2 gnomAD v4
2	g.73489810G>C	CA347265978	ALMS1	c.7470G>C (p.Gln2490His) c.862G>C c.4922G>C c.1917G>C (p.Gln639His) c.7851G>C (p.Gln2617His) c.896-29965G>C c.2682G>C (p.Gln894His) c.7725G>C (p.Gln2575His) n.1654G>C c.7854G>C (p.Gln2618His)	gnomAD v4
2	g.73489810G=	CA1260981170	ALMS1	c.7470G= (p.Gln2490=) c.862G= c.4922G= c.1917G= (p.Gln639=) c.7851G= (p.Gln2617=) c.896-29965G= c.2682G= (p.Gln894=) c.7725G= (p.Gln2575=) n.1654G= c.7854G= (p.Gln2618=)
2	g.73489810G>T	CA347265977	ALMS1	c.7470G>T (p.Gln2490His) c.862G>T c.4922G>T c.1917G>T (p.Gln639His) c.7851G>T (p.Gln2617His) c.896-29965G>T c.2682G>T (p.Gln894His) c.7725G>T (p.Gln2575His) n.1654G>T c.7854G>T (p.Gln2618His)

Number of alleles fetched