Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73490177A>C	CA347267889	ALMS1	c.7837A>C (p.Ser2613Arg) c.1229A>C c.5289A>C c.2284A>C (p.Ser762Arg) c.8218A>C (p.Ser2740Arg) c.896-29598A>C c.3030+19A>C (n.3030+19A>C) c.8092A>C (p.Ser2698Arg) n.2021A>C c.8221A>C (p.Ser2741Arg)
2	g.73490177A>G	CA347267888	ALMS1	c.7837A>G (p.Ser2613Gly) c.1229A>G c.5289A>G c.2284A>G (p.Ser762Gly) c.8218A>G (p.Ser2740Gly) c.896-29598A>G c.3030+19A>G (n.3030+19A>G) c.8092A>G (p.Ser2698Gly) n.2021A>G c.8221A>G (p.Ser2741Gly)	ClinVar
2	g.73490177A>T	CA347267887	ALMS1	c.7837A>T (p.Ser2613Cys) c.1229A>T c.5289A>T c.2284A>T (p.Ser762Cys) c.8218A>T (p.Ser2740Cys) c.896-29598A>T c.3030+19A>T (n.3030+19A>T) c.8092A>T (p.Ser2698Cys) n.2021A>T c.8221A>T (p.Ser2741Cys)
2	g.73490178G>A	CA347267891	ALMS1	c.7838G>A (p.Ser2613Asn) c.1230G>A c.5290G>A c.2285G>A (p.Ser762Asn) c.8219G>A (p.Ser2740Asn) c.896-29597G>A c.3030+20G>A (n.3030+20G>A) c.8093G>A (p.Ser2698Asn) n.2022G>A c.8222G>A (p.Ser2741Asn)
2	g.73490178G>C	CA347267894	ALMS1	c.7838G>C (p.Ser2613Thr) c.1230G>C c.5290G>C c.2285G>C (p.Ser762Thr) c.8219G>C (p.Ser2740Thr) c.896-29597G>C c.3030+20G>C (n.3030+20G>C) c.8093G>C (p.Ser2698Thr) n.2022G>C c.8222G>C (p.Ser2741Thr)
2	g.73490178G=	CA1260981633	ALMS1	c.7838G= (p.Ser2613=) c.1230G= c.5290G= c.2285G= (p.Ser762=) c.8219G= (p.Ser2740=) c.896-29597G= c.3030+20G= (n.3030+20G=) c.8093G= (p.Ser2698=) n.2022G= c.8222G= (p.Ser2741=)
2	g.73490178G>T	CA347267893	ALMS1	c.7838G>T (p.Ser2613Ile) c.1230G>T c.5290G>T c.2285G>T (p.Ser762Ile) c.8219G>T (p.Ser2740Ile) c.896-29597G>T c.3030+20G>T (n.3030+20G>T) c.8093G>T (p.Ser2698Ile) n.2022G>T c.8222G>T (p.Ser2741Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.73490179C>A	CA50378264	ALMS1	c.7839C>A (p.Ser2613Arg) c.1231C>A c.5291C>A c.2286C>A (p.Ser762Arg) c.8220C>A (p.Ser2740Arg) c.896-29596C>A c.3030+21C>A (n.3030+21C>A) c.8094C>A (p.Ser2698Arg) n.2023C>A c.8223C>A (p.Ser2741Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490179C=	CA1260981637	ALMS1	c.7839C= (p.Ser2613=) c.1231C= c.5291C= c.2286C= (p.Ser762=) c.8220C= (p.Ser2740=) c.896-29596C= c.3030+21C= (n.3030+21C=) c.8094C= (p.Ser2698=) n.2023C= c.8223C= (p.Ser2741=)
2	g.73490179C>G	CA347267895	ALMS1	c.7839C>G (p.Ser2613Arg) c.1231C>G c.5291C>G c.2286C>G (p.Ser762Arg) c.8220C>G (p.Ser2740Arg) c.896-29596C>G c.3030+21C>G (n.3030+21C>G) c.8094C>G (p.Ser2698Arg) n.2023C>G c.8223C>G (p.Ser2741Arg)
2	g.73490179C>T	CA427001182	ALMS1	c.7839C>T (p.Ser2613=) c.1231C>T c.5291C>T c.2286C>T (p.Ser762=) c.8220C>T (p.Ser2740=) c.896-29596C>T c.3030+21C>T (n.3030+21C>T) c.8094C>T (p.Ser2698=) n.2023C>T c.8223C>T (p.Ser2741=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490180C>A	CA347267897	ALMS1	c.7840C>A (p.Gln2614Lys) c.1232C>A c.5292C>A c.2287C>A (p.Gln763Lys) c.8221C>A (p.Gln2741Lys) c.896-29595C>A c.3030+22C>A (n.3030+22C>A) c.8095C>A (p.Gln2699Lys) n.2024C>A c.8224C>A (p.Gln2742Lys)
2	g.73490180C>G	CA347267900	ALMS1	c.7840C>G (p.Gln2614Glu) c.1232C>G c.5292C>G c.2287C>G (p.Gln763Glu) c.8221C>G (p.Gln2741Glu) c.896-29595C>G c.3030+22C>G (n.3030+22C>G) c.8095C>G (p.Gln2699Glu) n.2024C>G c.8224C>G (p.Gln2742Glu)
2	g.73490180C>T	CA347267898	ALMS1	c.7840C>T (p.Gln2614Ter) c.1232C>T c.5292C>T c.2287C>T (p.Gln763Ter) c.8221C>T (p.Gln2741Ter) c.896-29595C>T c.3030+22C>T (n.3030+22C>T) c.8095C>T (p.Gln2699Ter) n.2024C>T c.8224C>T (p.Gln2742Ter)	ClinVar
2	g.73490181A>C	CA347267902	ALMS1	c.7841A>C (p.Gln2614Pro) c.1233A>C c.5293A>C c.2288A>C (p.Gln763Pro) c.8222A>C (p.Gln2741Pro) c.896-29594A>C c.3030+23A>C (n.3030+23A>C) c.8096A>C (p.Gln2699Pro) n.2025A>C c.8225A>C (p.Gln2742Pro)
2	g.73490181A>G	CA347267903	ALMS1	c.7841A>G (p.Gln2614Arg) c.1233A>G c.5293A>G c.2288A>G (p.Gln763Arg) c.8222A>G (p.Gln2741Arg) c.896-29594A>G c.3030+23A>G (n.3030+23A>G) c.8096A>G (p.Gln2699Arg) n.2025A>G c.8225A>G (p.Gln2742Arg)
2	g.73490181A>T	CA347267905	ALMS1	c.7841A>T (p.Gln2614Leu) c.1233A>T c.5293A>T c.2288A>T (p.Gln763Leu) c.8222A>T (p.Gln2741Leu) c.896-29594A>T c.3030+23A>T (n.3030+23A>T) c.8096A>T (p.Gln2699Leu) n.2025A>T c.8225A>T (p.Gln2742Leu)
2	g.73490182G>A	CA427001190	ALMS1	c.7842G>A (p.Gln2614=) c.1234G>A c.5294G>A c.2289G>A (p.Gln763=) c.8223G>A (p.Gln2741=) c.896-29593G>A c.3030+24G>A (n.3030+24G>A) c.8097G>A (p.Gln2699=) n.2026G>A c.8226G>A (p.Gln2742=)	ClinVar
2	g.73490182G>C	CA347267906	ALMS1	c.7842G>C (p.Gln2614His) c.1234G>C c.5294G>C c.2289G>C (p.Gln763His) c.8223G>C (p.Gln2741His) c.896-29593G>C c.3030+24G>C (n.3030+24G>C) c.8097G>C (p.Gln2699His) n.2026G>C c.8226G>C (p.Gln2742His)
2	g.73490182G=	CA1260981639	ALMS1	c.7842G= (p.Gln2614=) c.1234G= c.5294G= c.2289G= (p.Gln763=) c.8223G= (p.Gln2741=) c.896-29593G= c.3030+24G= (n.3030+24G=) c.8097G= (p.Gln2699=) n.2026G= c.8226G= (p.Gln2742=)
2	g.73490182G>T	CA347267908	ALMS1	c.7842G>T (p.Gln2614His) c.1234G>T c.5294G>T c.2289G>T (p.Gln763His) c.8223G>T (p.Gln2741His) c.896-29593G>T c.3030+24G>T (n.3030+24G>T) c.8097G>T (p.Gln2699His) n.2026G>T c.8226G>T (p.Gln2742His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490183T>A	CA347267910	ALMS1	c.7843T>A (p.Cys2615Ser) c.1235T>A c.5295T>A c.2290T>A (p.Cys764Ser) c.8224T>A (p.Cys2742Ser) c.896-29592T>A c.3030+25T>A (n.3030+25T>A) c.8098T>A (p.Cys2700Ser) n.2027T>A c.8227T>A (p.Cys2743Ser)
2	g.73490183T>C	CA50378279	ALMS1	c.7843T>C (p.Cys2615Arg) c.1235T>C c.5295T>C c.2290T>C (p.Cys764Arg) c.8224T>C (p.Cys2742Arg) c.896-29592T>C c.3030+25T>C (n.3030+25T>C) c.8098T>C (p.Cys2700Arg) n.2027T>C c.8227T>C (p.Cys2743Arg)	dbSNP gnomAD v4
2	g.73490183T>G	CA16042402	ALMS1	c.7843T>G (p.Cys2615Gly) c.1235T>G c.5295T>G c.2290T>G (p.Cys764Gly) c.8224T>G (p.Cys2742Gly) c.896-29592T>G c.3030+25T>G (n.3030+25T>G) c.8098T>G (p.Cys2700Gly) n.2027T>G c.8227T>G (p.Cys2743Gly)	ClinVar dbSNP gnomAD v4
2	g.73490183T=	CA1260981647	ALMS1	c.7843T= (p.Cys2615=) c.1235T= c.5295T= c.2290T= (p.Cys764=) c.8224T= (p.Cys2742=) c.896-29592T= c.3030+25T= (n.3030+25T=) c.8098T= (p.Cys2700=) n.2027T= c.8227T= (p.Cys2743=)
2	g.73490184G>A	CA347267913	ALMS1	c.7844G>A (p.Cys2615Tyr) c.1236G>A c.5296G>A c.2291G>A (p.Cys764Tyr) c.8225G>A (p.Cys2742Tyr) c.896-29591G>A c.3030+26G>A (n.3030+26G>A) c.8099G>A (p.Cys2700Tyr) n.2028G>A c.8228G>A (p.Cys2743Tyr)	gnomAD v4
2	g.73490184G>C	CA347267915	ALMS1	c.7844G>C (p.Cys2615Ser) c.1236G>C c.5296G>C c.2291G>C (p.Cys764Ser) c.8225G>C (p.Cys2742Ser) c.896-29591G>C c.3030+26G>C (n.3030+26G>C) c.8099G>C (p.Cys2700Ser) n.2028G>C c.8228G>C (p.Cys2743Ser)	ClinVar gnomAD v4
2	g.73490184G>T	CA347267916	ALMS1	c.7844G>T (p.Cys2615Phe) c.1236G>T c.5296G>T c.2291G>T (p.Cys764Phe) c.8225G>T (p.Cys2742Phe) c.896-29591G>T c.3030+26G>T (n.3030+26G>T) c.8099G>T (p.Cys2700Phe) n.2028G>T c.8228G>T (p.Cys2743Phe)
2	g.73490185T>A	CA347267919	ALMS1	c.7845T>A (p.Cys2615Ter) c.1237T>A c.5297T>A c.2292T>A (p.Cys764Ter) c.8226T>A (p.Cys2742Ter) c.896-29590T>A c.3030+27T>A (n.3030+27T>A) c.8100T>A (p.Cys2700Ter) n.2029T>A c.8229T>A (p.Cys2743Ter)
2	g.73490185T>C	CA427001198	ALMS1	c.7845T>C (p.Cys2615=) c.1237T>C c.5297T>C c.2292T>C (p.Cys764=) c.8226T>C (p.Cys2742=) c.896-29590T>C c.3030+27T>C (n.3030+27T>C) c.8100T>C (p.Cys2700=) n.2029T>C c.8229T>C (p.Cys2743=)
2	g.73490185T>G	CA347267918	ALMS1	c.7845T>G (p.Cys2615Trp) c.1237T>G c.5297T>G c.2292T>G (p.Cys764Trp) c.8226T>G (p.Cys2742Trp) c.896-29590T>G c.3030+27T>G (n.3030+27T>G) c.8100T>G (p.Cys2700Trp) n.2029T>G c.8229T>G (p.Cys2743Trp)
2	g.73490186A>C	CA347267921	ALMS1	c.7846A>C (p.Thr2616Pro) c.1238A>C c.5298A>C c.2293A>C (p.Thr765Pro) c.8227A>C (p.Thr2743Pro) c.896-29589A>C c.3030+28A>C (n.3030+28A>C) c.8101A>C (p.Thr2701Pro) n.2030A>C c.8230A>C (p.Thr2744Pro)
2	g.73490186A>G	CA347267922	ALMS1	c.7846A>G (p.Thr2616Ala) c.1238A>G c.5298A>G c.2293A>G (p.Thr765Ala) c.8227A>G (p.Thr2743Ala) c.896-29589A>G c.3030+28A>G (n.3030+28A>G) c.8101A>G (p.Thr2701Ala) n.2030A>G c.8230A>G (p.Thr2744Ala)	gnomAD v4
2	g.73490186A>T	CA347267924	ALMS1	c.7846A>T (p.Thr2616Ser) c.1238A>T c.5298A>T c.2293A>T (p.Thr765Ser) c.8227A>T (p.Thr2743Ser) c.896-29589A>T c.3030+28A>T (n.3030+28A>T) c.8101A>T (p.Thr2701Ser) n.2030A>T c.8230A>T (p.Thr2744Ser)
2	g.73490187C>A	CA347267926	ALMS1	c.7847C>A (p.Thr2616Asn) c.1239C>A c.5299C>A c.2294C>A (p.Thr765Asn) c.8228C>A (p.Thr2743Asn) c.896-29588C>A c.3030+29C>A (n.3030+29C>A) c.8102C>A (p.Thr2701Asn) n.2031C>A c.8231C>A (p.Thr2744Asn)
2	g.73490187C=	CA1260981650	ALMS1	c.7847C= (p.Thr2616=) c.1239C= c.5299C= c.2294C= (p.Thr765=) c.8228C= (p.Thr2743=) c.896-29588C= c.3030+29C= (n.3030+29C=) c.8102C= (p.Thr2701=) n.2031C= c.8231C= (p.Thr2744=)
2	g.73490187C>G	CA347267927	ALMS1	c.7847C>G (p.Thr2616Ser) c.1239C>G c.5299C>G c.2294C>G (p.Thr765Ser) c.8228C>G (p.Thr2743Ser) c.896-29588C>G c.3030+29C>G (n.3030+29C>G) c.8102C>G (p.Thr2701Ser) n.2031C>G c.8231C>G (p.Thr2744Ser)	dbSNP
2	g.73490187C>T	CA347267929	ALMS1	c.7847C>T (p.Thr2616Ile) c.1239C>T c.5299C>T c.2294C>T (p.Thr765Ile) c.8228C>T (p.Thr2743Ile) c.896-29588C>T c.3030+29C>T (n.3030+29C>T) c.8102C>T (p.Thr2701Ile) n.2031C>T c.8231C>T (p.Thr2744Ile)	gnomAD v4
2	g.73490188T>A	CA427001210	ALMS1	c.7848T>A (p.Thr2616=) c.1240T>A c.5300T>A c.2295T>A (p.Thr765=) c.8229T>A (p.Thr2743=) c.896-29587T>A c.3030+30T>A (n.3030+30T>A) c.8103T>A (p.Thr2701=) n.2032T>A c.8232T>A (p.Thr2744=)	ClinVar dbSNP
2	g.73490188T>C	CA427001209	ALMS1	c.7848T>C (p.Thr2616=) c.1240T>C c.5300T>C c.2295T>C (p.Thr765=) c.8229T>C (p.Thr2743=) c.896-29587T>C c.3030+30T>C (n.3030+30T>C) c.8103T>C (p.Thr2701=) n.2032T>C c.8232T>C (p.Thr2744=)	ClinVar dbSNP gnomAD v4
2	g.73490188T>G	CA427001207	ALMS1	c.7848T>G (p.Thr2616=) c.1240T>G c.5300T>G c.2295T>G (p.Thr765=) c.8229T>G (p.Thr2743=) c.896-29587T>G c.3030+30T>G (n.3030+30T>G) c.8103T>G (p.Thr2701=) n.2032T>G c.8232T>G (p.Thr2744=)
2	g.73490189G>A	CA347267931	ALMS1	c.7849G>A (p.Gly2617Arg) c.1241G>A c.5301G>A c.2296G>A (p.Gly766Arg) c.8230G>A (p.Gly2744Arg) c.896-29586G>A c.3030+31G>A (n.3030+31G>A) c.8104G>A (p.Gly2702Arg) n.2033G>A c.8233G>A (p.Gly2745Arg)
2	g.73490189G>C	CA347267932	ALMS1	c.7849G>C (p.Gly2617Arg) c.1241G>C c.5301G>C c.2296G>C (p.Gly766Arg) c.8230G>C (p.Gly2744Arg) c.896-29586G>C c.3030+31G>C (n.3030+31G>C) c.8104G>C (p.Gly2702Arg) n.2033G>C c.8233G>C (p.Gly2745Arg)
2	g.73490189G>T	CA347267933	ALMS1	c.7849G>T (p.Gly2617Ter) c.1241G>T c.5301G>T c.2296G>T (p.Gly766Ter) c.8230G>T (p.Gly2744Ter) c.896-29586G>T c.3030+31G>T (n.3030+31G>T) c.8104G>T (p.Gly2702Ter) n.2033G>T c.8233G>T (p.Gly2745Ter)
2	g.73490190G>A	CA347267935	ALMS1	c.7850G>A (p.Gly2617Glu) c.1242G>A c.5302G>A c.2297G>A (p.Gly766Glu) c.8231G>A (p.Gly2744Glu) c.896-29585G>A c.3030+32G>A (n.3030+32G>A) c.8105G>A (p.Gly2702Glu) n.2034G>A c.8234G>A (p.Gly2745Glu)
2	g.73490190G>C	CA347267937	ALMS1	c.7850G>C (p.Gly2617Ala) c.1242G>C c.5302G>C c.2297G>C (p.Gly766Ala) c.8231G>C (p.Gly2744Ala) c.896-29585G>C c.3030+32G>C (n.3030+32G>C) c.8105G>C (p.Gly2702Ala) n.2034G>C c.8234G>C (p.Gly2745Ala)
2	g.73490190G>T	CA347267938	ALMS1	c.7850G>T (p.Gly2617Val) c.1242G>T c.5302G>T c.2297G>T (p.Gly766Val) c.8231G>T (p.Gly2744Val) c.896-29585G>T c.3030+32G>T (n.3030+32G>T) c.8105G>T (p.Gly2702Val) n.2034G>T c.8234G>T (p.Gly2745Val)
2	g.73490191A>C	CA427001218	ALMS1	c.7851A>C (p.Gly2617=) c.1243A>C c.5303A>C c.2298A>C (p.Gly766=) c.8232A>C (p.Gly2744=) c.896-29584A>C c.3030+33A>C (n.3030+33A>C) c.8106A>C (p.Gly2702=) n.2035A>C c.8235A>C (p.Gly2745=)
2	g.73490191A>G	CA427001217	ALMS1	c.7851A>G (p.Gly2617=) c.1243A>G c.5303A>G c.2298A>G (p.Gly766=) c.8232A>G (p.Gly2744=) c.896-29584A>G c.3030+33A>G (n.3030+33A>G) c.8106A>G (p.Gly2702=) n.2035A>G c.8235A>G (p.Gly2745=)
2	g.73490191A>T	CA427001215	ALMS1	c.7851A>T (p.Gly2617=) c.1243A>T c.5303A>T c.2298A>T (p.Gly766=) c.8232A>T (p.Gly2744=) c.896-29584A>T c.3030+33A>T (n.3030+33A>T) c.8106A>T (p.Gly2702=) n.2035A>T c.8235A>T (p.Gly2745=)	gnomAD v4
2	g.73490192G>A	CA347267942	ALMS1	c.7852G>A (p.Ala2618Thr) c.1244G>A c.5304G>A c.2299G>A (p.Ala767Thr) c.8233G>A (p.Ala2745Thr) c.896-29583G>A c.3030+34G>A (n.3030+34G>A) c.8107G>A (p.Ala2703Thr) n.2036G>A c.8236G>A (p.Ala2746Thr)	gnomAD v4
2	g.73490192G>C	CA347267941	ALMS1	c.7852G>C (p.Ala2618Pro) c.1244G>C c.5304G>C c.2299G>C (p.Ala767Pro) c.8233G>C (p.Ala2745Pro) c.896-29583G>C c.3030+34G>C (n.3030+34G>C) c.8107G>C (p.Ala2703Pro) n.2036G>C c.8236G>C (p.Ala2746Pro)
2	g.73490192G>T	CA347267940	ALMS1	c.7852G>T (p.Ala2618Ser) c.1244G>T c.5304G>T c.2299G>T (p.Ala767Ser) c.8233G>T (p.Ala2745Ser) c.896-29583G>T c.3030+34G>T (n.3030+34G>T) c.8107G>T (p.Ala2703Ser) n.2036G>T c.8236G>T (p.Ala2746Ser)	gnomAD v4
2	g.73490193C>A	CA347267946	ALMS1	c.7853C>A (p.Ala2618Glu) c.1245C>A c.5305C>A c.2300C>A (p.Ala767Glu) c.8234C>A (p.Ala2745Glu) c.896-29582C>A c.3030+35C>A (n.3030+35C>A) c.8108C>A (p.Ala2703Glu) n.2037C>A c.8237C>A (p.Ala2746Glu)	dbSNP gnomAD v2 gnomAD v4
2	g.73490193C=	CA1260981652	ALMS1	c.7853C= (p.Ala2618=) c.1245C= c.5305C= c.2300C= (p.Ala767=) c.8234C= (p.Ala2745=) c.896-29582C= c.3030+35C= (n.3030+35C=) c.8108C= (p.Ala2703=) n.2037C= c.8237C= (p.Ala2746=)
2	g.73490193C>G	CA347267944	ALMS1	c.7853C>G (p.Ala2618Gly) c.1245C>G c.5305C>G c.2300C>G (p.Ala767Gly) c.8234C>G (p.Ala2745Gly) c.896-29582C>G c.3030+35C>G (n.3030+35C>G) c.8108C>G (p.Ala2703Gly) n.2037C>G c.8237C>G (p.Ala2746Gly)
2	g.73490193C>T	CA347267945	ALMS1	c.7853C>T (p.Ala2618Val) c.1245C>T c.5305C>T c.2300C>T (p.Ala767Val) c.8234C>T (p.Ala2745Val) c.896-29582C>T c.3030+35C>T (n.3030+35C>T) c.8108C>T (p.Ala2703Val) n.2037C>T c.8237C>T (p.Ala2746Val)	gnomAD v4
2	g.73490194A=	CA1260981654	ALMS1	c.7854A= (p.Ala2618=) c.1246A= c.5306A= c.2301A= (p.Ala767=) c.8235A= (p.Ala2745=) c.896-29581A= c.3030+36A= (n.3030+36A=) c.8109A= (p.Ala2703=) n.2038A= c.8238A= (p.Ala2746=)
2	g.73490194A>C	CA427001225	ALMS1	c.7854A>C (p.Ala2618=) c.1246A>C c.5306A>C c.2301A>C (p.Ala767=) c.8235A>C (p.Ala2745=) c.896-29581A>C c.3030+36A>C (n.3030+36A>C) c.8109A>C (p.Ala2703=) n.2038A>C c.8238A>C (p.Ala2746=)
2	g.73490194A>G	CA1714429	ALMS1	c.7854A>G (p.Ala2618=) c.1246A>G c.5306A>G c.2301A>G (p.Ala767=) c.8235A>G (p.Ala2745=) c.896-29581A>G c.3030+36A>G (n.3030+36A>G) c.8109A>G (p.Ala2703=) n.2038A>G c.8238A>G (p.Ala2746=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490194A>T	CA427001226	ALMS1	c.7854A>T (p.Ala2618=) c.1246A>T c.5306A>T c.2301A>T (p.Ala767=) c.8235A>T (p.Ala2745=) c.896-29581A>T c.3030+36A>T (n.3030+36A>T) c.8109A>T (p.Ala2703=) n.2038A>T c.8238A>T (p.Ala2746=)
2	g.73490195T>A	CA347267947	ALMS1	c.7855T>A (p.Ser2619Thr) c.1247T>A c.5307T>A c.2302T>A (p.Ser768Thr) c.8236T>A (p.Ser2746Thr) c.896-29580T>A c.3030+37T>A (n.3030+37T>A) c.8110T>A (p.Ser2704Thr) n.2039T>A c.8239T>A (p.Ser2747Thr)
2	g.73490195T>C	CA347267948	ALMS1	c.7855T>C (p.Ser2619Pro) c.1247T>C c.5307T>C c.2302T>C (p.Ser768Pro) c.8236T>C (p.Ser2746Pro) c.896-29580T>C c.3030+37T>C (n.3030+37T>C) c.8110T>C (p.Ser2704Pro) n.2039T>C c.8239T>C (p.Ser2747Pro)
2	g.73490195T>G	CA347267949	ALMS1	c.7855T>G (p.Ser2619Ala) c.1247T>G c.5307T>G c.2302T>G (p.Ser768Ala) c.8236T>G (p.Ser2746Ala) c.896-29580T>G c.3030+37T>G (n.3030+37T>G) c.8110T>G (p.Ser2704Ala) n.2039T>G c.8239T>G (p.Ser2747Ala)
2	g.73490196C>A	CA347267951	ALMS1	c.7856C>A (p.Ser2619Tyr) c.1248C>A c.5308C>A c.2303C>A (p.Ser768Tyr) c.8237C>A (p.Ser2746Tyr) c.896-29579C>A c.3030+38C>A (n.3030+38C>A) c.8111C>A (p.Ser2704Tyr) n.2040C>A c.8240C>A (p.Ser2747Tyr)
2	g.73490196C>G	CA347267952	ALMS1	c.7856C>G (p.Ser2619Cys) c.1248C>G c.5308C>G c.2303C>G (p.Ser768Cys) c.8237C>G (p.Ser2746Cys) c.896-29579C>G c.3030+38C>G (n.3030+38C>G) c.8111C>G (p.Ser2704Cys) n.2040C>G c.8240C>G (p.Ser2747Cys)
2	g.73490196C>T	CA347267954	ALMS1	c.7856C>T (p.Ser2619Phe) c.1248C>T c.5308C>T c.2303C>T (p.Ser768Phe) c.8237C>T (p.Ser2746Phe) c.896-29579C>T c.3030+38C>T (n.3030+38C>T) c.8111C>T (p.Ser2704Phe) n.2040C>T c.8240C>T (p.Ser2747Phe)
2	g.73490197T>A	CA427001235	ALMS1	c.7857T>A (p.Ser2619=) c.1249T>A c.5309T>A c.2304T>A (p.Ser768=) c.8238T>A (p.Ser2746=) c.896-29578T>A c.3030+39T>A (n.3030+39T>A) c.8112T>A (p.Ser2704=) n.2041T>A c.8241T>A (p.Ser2747=)
2	g.73490197T>C	CA427001236	ALMS1	c.7857T>C (p.Ser2619=) c.1249T>C c.5309T>C c.2304T>C (p.Ser768=) c.8238T>C (p.Ser2746=) c.896-29578T>C c.3030+39T>C (n.3030+39T>C) c.8112T>C (p.Ser2704=) n.2041T>C c.8241T>C (p.Ser2747=)
2	g.73490197T>G	CA427001238	ALMS1	c.7857T>G (p.Ser2619=) c.1249T>G c.5309T>G c.2304T>G (p.Ser768=) c.8238T>G (p.Ser2746=) c.896-29578T>G c.3030+39T>G (n.3030+39T>G) c.8112T>G (p.Ser2704=) n.2041T>G c.8241T>G (p.Ser2747=)
2	g.73490198G>A	CA347267955	ALMS1	c.7858G>A (p.Val2620Met) c.1250G>A c.5310G>A c.2305G>A (p.Val769Met) c.8239G>A (p.Val2747Met) c.896-29577G>A c.3030+40G>A (n.3030+40G>A) c.8113G>A (p.Val2705Met) n.2042G>A c.8242G>A (p.Val2748Met)
2	g.73490198G>C	CA347267956	ALMS1	c.7858G>C (p.Val2620Leu) c.1250G>C c.5310G>C c.2305G>C (p.Val769Leu) c.8239G>C (p.Val2747Leu) c.896-29577G>C c.3030+40G>C (n.3030+40G>C) c.8113G>C (p.Val2705Leu) n.2042G>C c.8242G>C (p.Val2748Leu)	dbSNP
2	g.73490198G=	CA1260981659	ALMS1	c.7858G= (p.Val2620=) c.1250G= c.5310G= c.2305G= (p.Val769=) c.8239G= (p.Val2747=) c.896-29577G= c.3030+40G= (n.3030+40G=) c.8113G= (p.Val2705=) n.2042G= c.8242G= (p.Val2748=)
2	g.73490198G>T	CA10582103	ALMS1	c.7858G>T (p.Val2620Leu) c.1250G>T c.5310G>T c.2305G>T (p.Val769Leu) c.8239G>T (p.Val2747Leu) c.896-29577G>T c.3030+40G>T (n.3030+40G>T) c.8113G>T (p.Val2705Leu) n.2042G>T c.8242G>T (p.Val2748Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490199T>A	CA347267960	ALMS1	c.7859T>A (p.Val2620Glu) c.1251T>A c.5311T>A c.2306T>A (p.Val769Glu) c.8240T>A (p.Val2747Glu) c.896-29576T>A c.3030+41T>A (n.3030+41T>A) c.8114T>A (p.Val2705Glu) n.2043T>A c.8243T>A (p.Val2748Glu)
2	g.73490199T>C	CA347267959	ALMS1	c.7859T>C (p.Val2620Ala) c.1251T>C c.5311T>C c.2306T>C (p.Val769Ala) c.8240T>C (p.Val2747Ala) c.896-29576T>C c.3030+41T>C (n.3030+41T>C) c.8114T>C (p.Val2705Ala) n.2043T>C c.8243T>C (p.Val2748Ala)
2	g.73490199T>G	CA1714430	ALMS1	c.7859T>G (p.Val2620Gly) c.1251T>G c.5311T>G c.2306T>G (p.Val769Gly) c.8240T>G (p.Val2747Gly) c.896-29576T>G c.3030+41T>G (n.3030+41T>G) c.8114T>G (p.Val2705Gly) n.2043T>G c.8243T>G (p.Val2748Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490199T=	CA1260981669	ALMS1	c.7859T= (p.Val2620=) c.1251T= c.5311T= c.2306T= (p.Val769=) c.8240T= (p.Val2747=) c.896-29576T= c.3030+41T= (n.3030+41T=) c.8114T= (p.Val2705=) n.2043T= c.8243T= (p.Val2748=)
2	g.73490199_73490200insA	CA2659619851	ALMS1	c.7859_7860insA (p.Val2622GlyfsTer3) c.1251_1252insA c.5311_5312insA c.2306_2307insA (p.Val771GlyfsTer3) c.8240_8241insA (p.Val2749GlyfsTer3) c.896-29576_896-29575insA c.3030+41_3030+42insA (n.3030+41_3030+42insA) c.8114_8115insA (p.Val2707GlyfsTer3) n.2043_2044insA c.8243_8244insA (p.Val2750GlyfsTer3)	gnomAD v4
2	g.73490200G>A	CA427001248	ALMS1	c.7860G>A (p.Val2620=) c.1252G>A c.5312G>A c.2307G>A (p.Val769=) c.8241G>A (p.Val2747=) c.896-29575G>A c.3030+42G>A (n.3030+42G>A) c.8115G>A (p.Val2705=) n.2044G>A c.8244G>A (p.Val2748=)	ClinVar
2	g.73490200G>C	CA427001250	ALMS1	c.7860G>C (p.Val2620=) c.1252G>C c.5312G>C c.2307G>C (p.Val769=) c.8241G>C (p.Val2747=) c.896-29575G>C c.3030+42G>C (n.3030+42G>C) c.8115G>C (p.Val2705=) n.2044G>C c.8244G>C (p.Val2748=)
2	g.73490200G>T	CA427001252	ALMS1	c.7860G>T (p.Val2620=) c.1252G>T c.5312G>T c.2307G>T (p.Val769=) c.8241G>T (p.Val2747=) c.896-29575G>T c.3030+42G>T (n.3030+42G>T) c.8115G>T (p.Val2705=) n.2044G>T c.8244G>T (p.Val2748=)
2	g.73490204dup	CA1714431	ALMS1	c.7864dup (p.Val2622GlyfsTer3) c.1256dup c.5316dup c.2311dup (p.Val771GlyfsTer3) c.8245dup (p.Val2749GlyfsTer3) c.896-29571dup c.3030+46dup (n.3030+46dup) c.8119dup (p.Val2707GlyfsTer3) n.2048dup c.8248dup (p.Val2750GlyfsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490201G>A	CA347267962	ALMS1	c.7861G>A (p.Gly2621Arg) c.1253G>A c.5313G>A c.2308G>A (p.Gly770Arg) c.8242G>A (p.Gly2748Arg) c.896-29574G>A c.3030+43G>A (n.3030+43G>A) c.8116G>A (p.Gly2706Arg) n.2045G>A c.8245G>A (p.Gly2749Arg)	gnomAD v4
2	g.73490201G>C	CA347267963	ALMS1	c.7861G>C (p.Gly2621Arg) c.1253G>C c.5313G>C c.2308G>C (p.Gly770Arg) c.8242G>C (p.Gly2748Arg) c.896-29574G>C c.3030+43G>C (n.3030+43G>C) c.8116G>C (p.Gly2706Arg) n.2045G>C c.8245G>C (p.Gly2749Arg)	ClinVar dbSNP
2	g.73490201G=	CA1260981677	ALMS1	c.7861G= (p.Gly2621=) c.1253G= c.5313G= c.2308G= (p.Gly770=) c.8242G= (p.Gly2748=) c.896-29574G= c.3030+43G= (n.3030+43G=) c.8116G= (p.Gly2706=) n.2045G= c.8245G= (p.Gly2749=)
2	g.73490201G>T	CA347267965	ALMS1	c.7861G>T (p.Gly2621Trp) c.1253G>T c.5313G>T c.2308G>T (p.Gly770Trp) c.8242G>T (p.Gly2748Trp) c.896-29574G>T c.3030+43G>T (n.3030+43G>T) c.8116G>T (p.Gly2706Trp) n.2045G>T c.8245G>T (p.Gly2749Trp)	gnomAD v4
2	g.73490202G>A	CA347267967	ALMS1	c.7862G>A (p.Gly2621Glu) c.1254G>A c.5314G>A c.2309G>A (p.Gly770Glu) c.8243G>A (p.Gly2748Glu) c.896-29573G>A c.3030+44G>A (n.3030+44G>A) c.8117G>A (p.Gly2706Glu) n.2046G>A c.8246G>A (p.Gly2749Glu)
2	g.73490202G>C	CA347267968	ALMS1	c.7862G>C (p.Gly2621Ala) c.1254G>C c.5314G>C c.2309G>C (p.Gly770Ala) c.8243G>C (p.Gly2748Ala) c.896-29573G>C c.3030+44G>C (n.3030+44G>C) c.8117G>C (p.Gly2706Ala) n.2046G>C c.8246G>C (p.Gly2749Ala)
2	g.73490202G>T	CA347267969	ALMS1	c.7862G>T (p.Gly2621Val) c.1254G>T c.5314G>T c.2309G>T (p.Gly770Val) c.8243G>T (p.Gly2748Val) c.896-29573G>T c.3030+44G>T (n.3030+44G>T) c.8117G>T (p.Gly2706Val) n.2046G>T c.8246G>T (p.Gly2749Val)
2	g.73490203G>A	CA427001258	ALMS1	c.7863G>A (p.Gly2621=) c.1255G>A c.5315G>A c.2310G>A (p.Gly770=) c.8244G>A (p.Gly2748=) c.896-29572G>A c.3030+45G>A (n.3030+45G>A) c.8118G>A (p.Gly2706=) n.2047G>A c.8247G>A (p.Gly2749=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490203G>C	CA427001260	ALMS1	c.7863G>C (p.Gly2621=) c.1255G>C c.5315G>C c.2310G>C (p.Gly770=) c.8244G>C (p.Gly2748=) c.896-29572G>C c.3030+45G>C (n.3030+45G>C) c.8118G>C (p.Gly2706=) n.2047G>C c.8247G>C (p.Gly2749=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490203G=	CA1260981681	ALMS1	c.7863G= (p.Gly2621=) c.1255G= c.5315G= c.2310G= (p.Gly770=) c.8244G= (p.Gly2748=) c.896-29572G= c.3030+45G= (n.3030+45G=) c.8118G= (p.Gly2706=) n.2047G= c.8247G= (p.Gly2749=)
2	g.73490203G>T	CA427001262	ALMS1	c.7863G>T (p.Gly2621=) c.1255G>T c.5315G>T c.2310G>T (p.Gly770=) c.8244G>T (p.Gly2748=) c.896-29572G>T c.3030+45G>T (n.3030+45G>T) c.8118G>T (p.Gly2706=) n.2047G>T c.8247G>T (p.Gly2749=)	gnomAD v4
2	g.73490204G>A	CA50378333	ALMS1	c.7864G>A (p.Val2622Ile) c.1256G>A c.5316G>A c.2311G>A (p.Val771Ile) c.8245G>A (p.Val2749Ile) c.896-29571G>A c.3030+46G>A (n.3030+46G>A) c.8119G>A (p.Val2707Ile) n.2048G>A c.8248G>A (p.Val2750Ile)	ClinVar dbSNP gnomAD v4
2	g.73490204G>C	CA347267970	ALMS1	c.7864G>C (p.Val2622Leu) c.1256G>C c.5316G>C c.2311G>C (p.Val771Leu) c.8245G>C (p.Val2749Leu) c.896-29571G>C c.3030+46G>C (n.3030+46G>C) c.8119G>C (p.Val2707Leu) n.2048G>C c.8248G>C (p.Val2750Leu)
2	g.73490204G=	CA1260981684	ALMS1	c.7864G= (p.Val2622=) c.1256G= c.5316G= c.2311G= (p.Val771=) c.8245G= (p.Val2749=) c.896-29571G= c.3030+46G= (n.3030+46G=) c.8119G= (p.Val2707=) n.2048G= c.8248G= (p.Val2750=)
2	g.73490204G>T	CA347267971	ALMS1	c.7864G>T (p.Val2622Leu) c.1256G>T c.5316G>T c.2311G>T (p.Val771Leu) c.8245G>T (p.Val2749Leu) c.896-29571G>T c.3030+46G>T (n.3030+46G>T) c.8119G>T (p.Val2707Leu) n.2048G>T c.8248G>T (p.Val2750Leu)	gnomAD v4
2	g.73490205T>A	CA347267973	ALMS1	c.7865T>A (p.Val2622Glu) c.1257T>A c.5317T>A c.2312T>A (p.Val771Glu) c.8246T>A (p.Val2749Glu) c.896-29570T>A c.3030+47T>A (n.3030+47T>A) c.8120T>A (p.Val2707Glu) n.2049T>A c.8249T>A (p.Val2750Glu)
2	g.73490205T>C	CA347267974	ALMS1	c.7865T>C (p.Val2622Ala) c.1257T>C c.5317T>C c.2312T>C (p.Val771Ala) c.8246T>C (p.Val2749Ala) c.896-29570T>C c.3030+47T>C (n.3030+47T>C) c.8120T>C (p.Val2707Ala) n.2049T>C c.8249T>C (p.Val2750Ala)	ClinVar dbSNP gnomAD v4
2	g.73490205T>G	CA347267975	ALMS1	c.7865T>G (p.Val2622Gly) c.1257T>G c.5317T>G c.2312T>G (p.Val771Gly) c.8246T>G (p.Val2749Gly) c.896-29570T>G c.3030+47T>G (n.3030+47T>G) c.8120T>G (p.Val2707Gly) n.2049T>G c.8249T>G (p.Val2750Gly)
2	g.73490206A>C	CA427001281	ALMS1	c.7866A>C (p.Val2622=) c.1258A>C c.5318A>C c.2313A>C (p.Val771=) c.8247A>C (p.Val2749=) c.896-29569A>C c.3030+48A>C (n.3030+48A>C) c.8121A>C (p.Val2707=) n.2050A>C c.8250A>C (p.Val2750=)
2	g.73490206A>G	CA427001283	ALMS1	c.7866A>G (p.Val2622=) c.1258A>G c.5318A>G c.2313A>G (p.Val771=) c.8247A>G (p.Val2749=) c.896-29569A>G c.3030+48A>G (n.3030+48A>G) c.8121A>G (p.Val2707=) n.2050A>G c.8250A>G (p.Val2750=)
2	g.73490206A>T	CA427001285	ALMS1	c.7866A>T (p.Val2622=) c.1258A>T c.5318A>T c.2313A>T (p.Val771=) c.8247A>T (p.Val2749=) c.896-29569A>T c.3030+48A>T (n.3030+48A>T) c.8121A>T (p.Val2707=) n.2050A>T c.8250A>T (p.Val2750=)
2	g.73490209_73490213del	CA2573135761	ALMS1	c.7869_7873del (p.Asn2624SerfsTer4) c.1261_1265del c.5321_5325del c.2316_2320del (p.Asn773SerfsTer4) c.8250_8254del (p.Asn2751SerfsTer4) c.896-29566_896-29562del c.3030+51_3030+55del (n.3030+51_3030+55del) c.8124_8128del (p.Asn2709SerfsTer4) n.2053_2057del c.8253_8257del (p.Asn2752SerfsTer4)	ClinVar dbSNP
2	g.73490207T>A	CA347267979	ALMS1	c.7867T>A (p.Phe2623Ile) c.1259T>A c.5319T>A c.2314T>A (p.Phe772Ile) c.8248T>A (p.Phe2750Ile) c.896-29568T>A c.3030+49T>A (n.3030+49T>A) c.8122T>A (p.Phe2708Ile) n.2051T>A c.8251T>A (p.Phe2751Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.73490207T>C	CA347267980	ALMS1	c.7867T>C (p.Phe2623Leu) c.1259T>C c.5319T>C c.2314T>C (p.Phe772Leu) c.8248T>C (p.Phe2750Leu) c.896-29568T>C c.3030+49T>C (n.3030+49T>C) c.8122T>C (p.Phe2708Leu) n.2051T>C c.8251T>C (p.Phe2751Leu)
2	g.73490207T>G	CA347267978	ALMS1	c.7867T>G (p.Phe2623Val) c.1259T>G c.5319T>G c.2314T>G (p.Phe772Val) c.8248T>G (p.Phe2750Val) c.896-29568T>G c.3030+49T>G (n.3030+49T>G) c.8122T>G (p.Phe2708Val) n.2051T>G c.8251T>G (p.Phe2751Val)
2	g.73490207T=	CA1260981687	ALMS1	c.7867T= (p.Phe2623=) c.1259T= c.5319T= c.2314T= (p.Phe772=) c.8248T= (p.Phe2750=) c.896-29568T= c.3030+49T= (n.3030+49T=) c.8122T= (p.Phe2708=) n.2051T= c.8251T= (p.Phe2751=)
2	g.73490208T>A	CA347267982	ALMS1	c.7868T>A (p.Phe2623Tyr) c.1260T>A c.5320T>A c.2315T>A (p.Phe772Tyr) c.8249T>A (p.Phe2750Tyr) c.896-29567T>A c.3030+50T>A (n.3030+50T>A) c.8123T>A (p.Phe2708Tyr) n.2052T>A c.8252T>A (p.Phe2751Tyr)
2	g.73490208T>C	CA347267985	ALMS1	c.7868T>C (p.Phe2623Ser) c.1260T>C c.5320T>C c.2315T>C (p.Phe772Ser) c.8249T>C (p.Phe2750Ser) c.896-29567T>C c.3030+50T>C (n.3030+50T>C) c.8123T>C (p.Phe2708Ser) n.2052T>C c.8252T>C (p.Phe2751Ser)
2	g.73490208T>G	CA347267984	ALMS1	c.7868T>G (p.Phe2623Cys) c.1260T>G c.5320T>G c.2315T>G (p.Phe772Cys) c.8249T>G (p.Phe2750Cys) c.896-29567T>G c.3030+50T>G (n.3030+50T>G) c.8123T>G (p.Phe2708Cys) n.2052T>G c.8252T>G (p.Phe2751Cys)
2	g.73490209T>A	CA347267987	ALMS1	c.7869T>A (p.Phe2623Leu) c.1261T>A c.5321T>A c.2316T>A (p.Phe772Leu) c.8250T>A (p.Phe2750Leu) c.896-29566T>A c.3030+51T>A (n.3030+51T>A) c.8124T>A (p.Phe2708Leu) n.2053T>A c.8253T>A (p.Phe2751Leu)
2	g.73490209T>C	CA427001292	ALMS1	c.7869T>C (p.Phe2623=) c.1261T>C c.5321T>C c.2316T>C (p.Phe772=) c.8250T>C (p.Phe2750=) c.896-29566T>C c.3030+51T>C (n.3030+51T>C) c.8124T>C (p.Phe2708=) n.2053T>C c.8253T>C (p.Phe2751=)	ClinVar gnomAD v4
2	g.73490209T>G	CA347267988	ALMS1	c.7869T>G (p.Phe2623Leu) c.1261T>G c.5321T>G c.2316T>G (p.Phe772Leu) c.8250T>G (p.Phe2750Leu) c.896-29566T>G c.3030+51T>G (n.3030+51T>G) c.8124T>G (p.Phe2708Leu) n.2053T>G c.8253T>G (p.Phe2751Leu)
2	g.73490210A=	CA1260981692	ALMS1	c.7870A= (p.Asn2624=) c.1262A= c.5322A= c.2317A= (p.Asn773=) c.8251A= (p.Asn2751=) c.896-29565A= c.3030+52A= (n.3030+52A=) c.8125A= (p.Asn2709=) n.2054A= c.8254A= (p.Asn2752=)
2	g.73490210A>C	CA347267990	ALMS1	c.7870A>C (p.Asn2624His) c.1262A>C c.5322A>C c.2317A>C (p.Asn773His) c.8251A>C (p.Asn2751His) c.896-29565A>C c.3030+52A>C (n.3030+52A>C) c.8125A>C (p.Asn2709His) n.2054A>C c.8254A>C (p.Asn2752His)
2	g.73490210A>G	CA347267992	ALMS1	c.7870A>G (p.Asn2624Asp) c.1262A>G c.5322A>G c.2317A>G (p.Asn773Asp) c.8251A>G (p.Asn2751Asp) c.896-29565A>G c.3030+52A>G (n.3030+52A>G) c.8125A>G (p.Asn2709Asp) n.2054A>G c.8254A>G (p.Asn2752Asp)
2	g.73490210A>T	CA347267993	ALMS1	c.7870A>T (p.Asn2624Tyr) c.1262A>T c.5322A>T c.2317A>T (p.Asn773Tyr) c.8251A>T (p.Asn2751Tyr) c.896-29565A>T c.3030+52A>T (n.3030+52A>T) c.8125A>T (p.Asn2709Tyr) n.2054A>T c.8254A>T (p.Asn2752Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490211A=	CA1260981696	ALMS1	c.7871A= (p.Asn2624=) c.1263A= c.5323A= c.2318A= (p.Asn773=) c.8252A= (p.Asn2751=) c.896-29564A= c.3030+53A= (n.3030+53A=) c.8126A= (p.Asn2709=) n.2055A= c.8255A= (p.Asn2752=)
2	g.73490211A>C	CA347267995	ALMS1	c.7871A>C (p.Asn2624Thr) c.1263A>C c.5323A>C c.2318A>C (p.Asn773Thr) c.8252A>C (p.Asn2751Thr) c.896-29564A>C c.3030+53A>C (n.3030+53A>C) c.8126A>C (p.Asn2709Thr) n.2055A>C c.8255A>C (p.Asn2752Thr)
2	g.73490211A>G	CA347267997	ALMS1	c.7871A>G (p.Asn2624Ser) c.1263A>G c.5323A>G c.2318A>G (p.Asn773Ser) c.8252A>G (p.Asn2751Ser) c.896-29564A>G c.3030+53A>G (n.3030+53A>G) c.8126A>G (p.Asn2709Ser) n.2055A>G c.8255A>G (p.Asn2752Ser)	ClinVar dbSNP gnomAD v4
2	g.73490211A>T	CA347267998	ALMS1	c.7871A>T (p.Asn2624Ile) c.1263A>T c.5323A>T c.2318A>T (p.Asn773Ile) c.8252A>T (p.Asn2751Ile) c.896-29564A>T c.3030+53A>T (n.3030+53A>T) c.8126A>T (p.Asn2709Ile) n.2055A>T c.8255A>T (p.Asn2752Ile)
2	g.73490212T>A	CA347268000	ALMS1	c.7872T>A (p.Asn2624Lys) c.1264T>A c.5324T>A c.2319T>A (p.Asn773Lys) c.8253T>A (p.Asn2751Lys) c.896-29563T>A c.3030+54T>A (n.3030+54T>A) c.8127T>A (p.Asn2709Lys) n.2056T>A c.8256T>A (p.Asn2752Lys)
2	g.73490212T>C	CA427001301	ALMS1	c.7872T>C (p.Asn2624=) c.1264T>C c.5324T>C c.2319T>C (p.Asn773=) c.8253T>C (p.Asn2751=) c.896-29563T>C c.3030+54T>C (n.3030+54T>C) c.8127T>C (p.Asn2709=) n.2056T>C c.8256T>C (p.Asn2752=)
2	g.73490212T>G	CA347268002	ALMS1	c.7872T>G (p.Asn2624Lys) c.1264T>G c.5324T>G c.2319T>G (p.Asn773Lys) c.8253T>G (p.Asn2751Lys) c.896-29563T>G c.3030+54T>G (n.3030+54T>G) c.8127T>G (p.Asn2709Lys) n.2056T>G c.8256T>G (p.Asn2752Lys)
2	g.73490213T>A	CA347268006	ALMS1	c.7873T>A (p.Ser2625Thr) c.1265T>A c.5325T>A c.2320T>A (p.Ser774Thr) c.8254T>A (p.Ser2752Thr) c.896-29562T>A c.3030+55T>A (n.3030+55T>A) c.8128T>A (p.Ser2710Thr) n.2057T>A c.8257T>A (p.Ser2753Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490213T>C	CA347268005	ALMS1	c.7873T>C (p.Ser2625Pro) c.1265T>C c.5325T>C c.2320T>C (p.Ser774Pro) c.8254T>C (p.Ser2752Pro) c.896-29562T>C c.3030+55T>C (n.3030+55T>C) c.8128T>C (p.Ser2710Pro) n.2057T>C c.8257T>C (p.Ser2753Pro)
2	g.73490213T>G	CA347268004	ALMS1	c.7873T>G (p.Ser2625Ala) c.1265T>G c.5325T>G c.2320T>G (p.Ser774Ala) c.8254T>G (p.Ser2752Ala) c.896-29562T>G c.3030+55T>G (n.3030+55T>G) c.8128T>G (p.Ser2710Ala) n.2057T>G c.8257T>G (p.Ser2753Ala)
2	g.73490213T=	CA1260981698	ALMS1	c.7873T= (p.Ser2625=) c.1265T= c.5325T= c.2320T= (p.Ser774=) c.8254T= (p.Ser2752=) c.896-29562T= c.3030+55T= (n.3030+55T=) c.8128T= (p.Ser2710=) n.2057T= c.8257T= (p.Ser2753=)
2	g.73490214C>A	CA347268008	ALMS1	c.7874C>A (p.Ser2625Tyr) c.1266C>A c.5326C>A c.2321C>A (p.Ser774Tyr) c.8255C>A (p.Ser2752Tyr) c.896-29561C>A c.3030+56C>A (n.3030+56C>A) c.8129C>A (p.Ser2710Tyr) n.2058C>A c.8258C>A (p.Ser2753Tyr)
2	g.73490214C>G	CA347268010	ALMS1	c.7874C>G (p.Ser2625Cys) c.1266C>G c.5326C>G c.2321C>G (p.Ser774Cys) c.8255C>G (p.Ser2752Cys) c.896-29561C>G c.3030+56C>G (n.3030+56C>G) c.8129C>G (p.Ser2710Cys) n.2058C>G c.8258C>G (p.Ser2753Cys)
2	g.73490214C>T	CA347268012	ALMS1	c.7874C>T (p.Ser2625Phe) c.1266C>T c.5326C>T c.2321C>T (p.Ser774Phe) c.8255C>T (p.Ser2752Phe) c.896-29561C>T c.3030+56C>T (n.3030+56C>T) c.8129C>T (p.Ser2710Phe) n.2058C>T c.8258C>T (p.Ser2753Phe)
2	g.73490215T>A	CA427001312	ALMS1	c.7875T>A (p.Ser2625=) c.1267T>A c.5327T>A c.2322T>A (p.Ser774=) c.8256T>A (p.Ser2752=) c.896-29560T>A c.3030+57T>A (n.3030+57T>A) c.8130T>A (p.Ser2710=) n.2059T>A c.8259T>A (p.Ser2753=)
2	g.73490215T>C	CA427001310	ALMS1	c.7875T>C (p.Ser2625=) c.1267T>C c.5327T>C c.2322T>C (p.Ser774=) c.8256T>C (p.Ser2752=) c.896-29560T>C c.3030+57T>C (n.3030+57T>C) c.8130T>C (p.Ser2710=) n.2059T>C c.8259T>C (p.Ser2753=)
2	g.73490215T>G	CA427001308	ALMS1	c.7875T>G (p.Ser2625=) c.1267T>G c.5327T>G c.2322T>G (p.Ser774=) c.8256T>G (p.Ser2752=) c.896-29560T>G c.3030+57T>G (n.3030+57T>G) c.8130T>G (p.Ser2710=) n.2059T>G c.8259T>G (p.Ser2753=)	ClinVar dbSNP
2	g.73490216C>A	CA1714432	ALMS1	c.7876C>A (p.His2626Asn) c.1268C>A c.5328C>A c.2323C>A (p.His775Asn) c.8257C>A (p.His2753Asn) c.896-29559C>A c.3030+58C>A (n.3030+58C>A) c.8131C>A (p.His2711Asn) n.2060C>A c.8260C>A (p.His2754Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490216C=	CA1260981703	ALMS1	c.7876C= (p.His2626=) c.1268C= c.5328C= c.2323C= (p.His775=) c.8257C= (p.His2753=) c.896-29559C= c.3030+58C= (n.3030+58C=) c.8131C= (p.His2711=) n.2060C= c.8260C= (p.His2754=)
2	g.73490216C>G	CA347268014	ALMS1	c.7876C>G (p.His2626Asp) c.1268C>G c.5328C>G c.2323C>G (p.His775Asp) c.8257C>G (p.His2753Asp) c.896-29559C>G c.3030+58C>G (n.3030+58C>G) c.8131C>G (p.His2711Asp) n.2060C>G c.8260C>G (p.His2754Asp)
2	g.73490216C>T	CA1714433	ALMS1	c.7876C>T (p.His2626Tyr) c.1268C>T c.5328C>T c.2323C>T (p.His775Tyr) c.8257C>T (p.His2753Tyr) c.896-29559C>T c.3030+58C>T (n.3030+58C>T) c.8131C>T (p.His2711Tyr) n.2060C>T c.8260C>T (p.His2754Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490217A=	CA1260981706	ALMS1	c.7877A= (p.His2626=) c.1269A= c.5329A= c.2324A= (p.His775=) c.8258A= (p.His2753=) c.896-29558A= c.3030+59A= (n.3030+59A=) c.8132A= (p.His2711=) n.2061A= c.8261A= (p.His2754=)
2	g.73490217A>C	CA347268016	ALMS1	c.7877A>C (p.His2626Pro) c.1269A>C c.5329A>C c.2324A>C (p.His775Pro) c.8258A>C (p.His2753Pro) c.896-29558A>C c.3030+59A>C (n.3030+59A>C) c.8132A>C (p.His2711Pro) n.2061A>C c.8261A>C (p.His2754Pro)	gnomAD v4
2	g.73490217A>G	CA347268018	ALMS1	c.7877A>G (p.His2626Arg) c.1269A>G c.5329A>G c.2324A>G (p.His775Arg) c.8258A>G (p.His2753Arg) c.896-29558A>G c.3030+59A>G (n.3030+59A>G) c.8132A>G (p.His2711Arg) n.2061A>G c.8261A>G (p.His2754Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490217A>T	CA347268019	ALMS1	c.7877A>T (p.His2626Leu) c.1269A>T c.5329A>T c.2324A>T (p.His775Leu) c.8258A>T (p.His2753Leu) c.896-29558A>T c.3030+59A>T (n.3030+59A>T) c.8132A>T (p.His2711Leu) n.2061A>T c.8261A>T (p.His2754Leu)
2	g.73490218T>A	CA347268021	ALMS1	c.7878T>A (p.His2626Gln) c.1270T>A c.5330T>A c.2325T>A (p.His775Gln) c.8259T>A (p.His2753Gln) c.896-29557T>A c.3030+60T>A (n.3030+60T>A) c.8133T>A (p.His2711Gln) n.2062T>A c.8262T>A (p.His2754Gln)
2	g.73490218T>C	CA427001318	ALMS1	c.7878T>C (p.His2626=) c.1270T>C c.5330T>C c.2325T>C (p.His775=) c.8259T>C (p.His2753=) c.896-29557T>C c.3030+60T>C (n.3030+60T>C) c.8133T>C (p.His2711=) n.2062T>C c.8262T>C (p.His2754=)	ClinVar
2	g.73490218T>G	CA347268022	ALMS1	c.7878T>G (p.His2626Gln) c.1270T>G c.5330T>G c.2325T>G (p.His775Gln) c.8259T>G (p.His2753Gln) c.896-29557T>G c.3030+60T>G (n.3030+60T>G) c.8133T>G (p.His2711Gln) n.2062T>G c.8262T>G (p.His2754Gln)
2	g.73490219T>A	CA347268025	ALMS1	c.7879T>A (p.Phe2627Ile) c.1271T>A c.5331T>A c.2326T>A (p.Phe776Ile) c.8260T>A (p.Phe2754Ile) c.896-29556T>A c.3030+61T>A (n.3030+61T>A) c.8134T>A (p.Phe2712Ile) n.2063T>A c.8263T>A (p.Phe2755Ile)	ClinVar
2	g.73490219T>C	CA347268027	ALMS1	c.7879T>C (p.Phe2627Leu) c.1271T>C c.5331T>C c.2326T>C (p.Phe776Leu) c.8260T>C (p.Phe2754Leu) c.896-29556T>C c.3030+61T>C (n.3030+61T>C) c.8134T>C (p.Phe2712Leu) n.2063T>C c.8263T>C (p.Phe2755Leu)
2	g.73490219T>G	CA347268023	ALMS1	c.7879T>G (p.Phe2627Val) c.1271T>G c.5331T>G c.2326T>G (p.Phe776Val) c.8260T>G (p.Phe2754Val) c.896-29556T>G c.3030+61T>G (n.3030+61T>G) c.8134T>G (p.Phe2712Val) n.2063T>G c.8263T>G (p.Phe2755Val)
2	g.73490219_73490226del	CA2750465616	ALMS1	c.7879_7886del (p.Phe2627ArgfsTer9) c.1271_1278del c.5331_5338del c.2326_2333del (p.Phe776ArgfsTer9) c.8260_8267del (p.Phe2754ArgfsTer9) c.896-29556_896-29549del c.3030+61_3030+68del (n.3030+61_3030+68del) c.8134_8141del (p.Phe2712ArgfsTer9) n.2063_2070del c.8263_8270del (p.Phe2755ArgfsTer9)
2	g.73490220T>A	CA347268029	ALMS1	c.7880T>A (p.Phe2627Tyr) c.1272T>A c.5332T>A c.2327T>A (p.Phe776Tyr) c.8261T>A (p.Phe2754Tyr) c.896-29555T>A c.3030+62T>A (n.3030+62T>A) c.8135T>A (p.Phe2712Tyr) n.2064T>A c.8264T>A (p.Phe2755Tyr)	gnomAD v4
2	g.73490220T>C	CA347268030	ALMS1	c.7880T>C (p.Phe2627Ser) c.1272T>C c.5332T>C c.2327T>C (p.Phe776Ser) c.8261T>C (p.Phe2754Ser) c.896-29555T>C c.3030+62T>C (n.3030+62T>C) c.8135T>C (p.Phe2712Ser) n.2064T>C c.8264T>C (p.Phe2755Ser)
2	g.73490220T>G	CA347268031	ALMS1	c.7880T>G (p.Phe2627Cys) c.1272T>G c.5332T>G c.2327T>G (p.Phe776Cys) c.8261T>G (p.Phe2754Cys) c.896-29555T>G c.3030+62T>G (n.3030+62T>G) c.8135T>G (p.Phe2712Cys) n.2064T>G c.8264T>G (p.Phe2755Cys)
2	g.73490221C>A	CA347268033	ALMS1	c.7881C>A (p.Phe2627Leu) c.1273C>A c.5333C>A c.2328C>A (p.Phe776Leu) c.8262C>A (p.Phe2754Leu) c.896-29554C>A c.3030+63C>A (n.3030+63C>A) c.8136C>A (p.Phe2712Leu) n.2065C>A c.8265C>A (p.Phe2755Leu)
2	g.73490221C>G	CA347268035	ALMS1	c.7881C>G (p.Phe2627Leu) c.1273C>G c.5333C>G c.2328C>G (p.Phe776Leu) c.8262C>G (p.Phe2754Leu) c.896-29554C>G c.3030+63C>G (n.3030+63C>G) c.8136C>G (p.Phe2712Leu) n.2065C>G c.8265C>G (p.Phe2755Leu)
2	g.73490221C>T	CA427001325	ALMS1	c.7881C>T (p.Phe2627=) c.1273C>T c.5333C>T c.2328C>T (p.Phe776=) c.8262C>T (p.Phe2754=) c.896-29554C>T c.3030+63C>T (n.3030+63C>T) c.8136C>T (p.Phe2712=) n.2065C>T c.8265C>T (p.Phe2755=)
2	g.73490222A>C	CA347268036	ALMS1	c.7882A>C (p.Thr2628Pro) c.1274A>C c.5334A>C c.2329A>C (p.Thr777Pro) c.8263A>C (p.Thr2755Pro) c.896-29553A>C c.3030+64A>C (n.3030+64A>C) c.8137A>C (p.Thr2713Pro) n.2066A>C c.8266A>C (p.Thr2756Pro)
2	g.73490222A>G	CA347268038	ALMS1	c.7882A>G (p.Thr2628Ala) c.1274A>G c.5334A>G c.2329A>G (p.Thr777Ala) c.8263A>G (p.Thr2755Ala) c.896-29553A>G c.3030+64A>G (n.3030+64A>G) c.8137A>G (p.Thr2713Ala) n.2066A>G c.8266A>G (p.Thr2756Ala)
2	g.73490222A>T	CA347268039	ALMS1	c.7882A>T (p.Thr2628Ser) c.1274A>T c.5334A>T c.2329A>T (p.Thr777Ser) c.8263A>T (p.Thr2755Ser) c.896-29553A>T c.3030+64A>T (n.3030+64A>T) c.8137A>T (p.Thr2713Ser) n.2066A>T c.8266A>T (p.Thr2756Ser)
2	g.73490223C>A	CA347268041	ALMS1	c.7883C>A (p.Thr2628Asn) c.1275C>A c.5335C>A c.2330C>A (p.Thr777Asn) c.8264C>A (p.Thr2755Asn) c.896-29552C>A c.3030+65C>A (n.3030+65C>A) c.8138C>A (p.Thr2713Asn) n.2067C>A c.8267C>A (p.Thr2756Asn)
2	g.73490223C=	CA1260981710	ALMS1	c.7883C= (p.Thr2628=) c.1275C= c.5335C= c.2330C= (p.Thr777=) c.8264C= (p.Thr2755=) c.896-29552C= c.3030+65C= (n.3030+65C=) c.8138C= (p.Thr2713=) n.2067C= c.8267C= (p.Thr2756=)
2	g.73490223C>G	CA347268043	ALMS1	c.7883C>G (p.Thr2628Ser) c.1275C>G c.5335C>G c.2330C>G (p.Thr777Ser) c.8264C>G (p.Thr2755Ser) c.896-29552C>G c.3030+65C>G (n.3030+65C>G) c.8138C>G (p.Thr2713Ser) n.2067C>G c.8267C>G (p.Thr2756Ser)
2	g.73490223C>T	CA50378341	ALMS1	c.7883C>T (p.Thr2628Ile) c.1275C>T c.5335C>T c.2330C>T (p.Thr777Ile) c.8264C>T (p.Thr2755Ile) c.896-29552C>T c.3030+65C>T (n.3030+65C>T) c.8138C>T (p.Thr2713Ile) n.2067C>T c.8267C>T (p.Thr2756Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.73490224T>A	CA427001331	ALMS1	c.7884T>A (p.Thr2628=) c.1276T>A c.5336T>A c.2331T>A (p.Thr777=) c.8265T>A (p.Thr2755=) c.896-29551T>A c.3030+66T>A (n.3030+66T>A) c.8139T>A (p.Thr2713=) n.2068T>A c.8268T>A (p.Thr2756=)
2	g.73490224T>C	CA427001333	ALMS1	c.7884T>C (p.Thr2628=) c.1276T>C c.5336T>C c.2331T>C (p.Thr777=) c.8265T>C (p.Thr2755=) c.896-29551T>C c.3030+66T>C (n.3030+66T>C) c.8139T>C (p.Thr2713=) n.2068T>C c.8268T>C (p.Thr2756=)	gnomAD v4
2	g.73490224T>G	CA427001334	ALMS1	c.7884T>G (p.Thr2628=) c.1276T>G c.5336T>G c.2331T>G (p.Thr777=) c.8265T>G (p.Thr2755=) c.896-29551T>G c.3030+66T>G (n.3030+66T>G) c.8139T>G (p.Thr2713=) n.2068T>G c.8268T>G (p.Thr2756=)
2	g.73490225G>A	CA347268047	ALMS1	c.7885G>A (p.Glu2629Lys) c.1277G>A c.5337G>A c.2332G>A (p.Glu778Lys) c.8266G>A (p.Glu2756Lys) c.896-29550G>A c.3030+67G>A (n.3030+67G>A) c.8140G>A (p.Glu2714Lys) n.2069G>A c.8269G>A (p.Glu2757Lys)	ClinVar
2	g.73490225G>C	CA347268048	ALMS1	c.7885G>C (p.Glu2629Gln) c.1277G>C c.5337G>C c.2332G>C (p.Glu778Gln) c.8266G>C (p.Glu2756Gln) c.896-29550G>C c.3030+67G>C (n.3030+67G>C) c.8140G>C (p.Glu2714Gln) n.2069G>C c.8269G>C (p.Glu2757Gln)
2	g.73490225G>T	CA347268045	ALMS1	c.7885G>T (p.Glu2629Ter) c.1277G>T c.5337G>T c.2332G>T (p.Glu778Ter) c.8266G>T (p.Glu2756Ter) c.896-29550G>T c.3030+67G>T (n.3030+67G>T) c.8140G>T (p.Glu2714Ter) n.2069G>T c.8269G>T (p.Glu2757Ter)
2	g.73490226A>C	CA347268050	ALMS1	c.7886A>C (p.Glu2629Ala) c.1278A>C c.5338A>C c.2333A>C (p.Glu778Ala) c.8267A>C (p.Glu2756Ala) c.896-29549A>C c.3030+68A>C (n.3030+68A>C) c.8141A>C (p.Glu2714Ala) n.2070A>C c.8270A>C (p.Glu2757Ala)
2	g.73490226A>G	CA347268051	ALMS1	c.7886A>G (p.Glu2629Gly) c.1278A>G c.5338A>G c.2333A>G (p.Glu778Gly) c.8267A>G (p.Glu2756Gly) c.896-29549A>G c.3030+68A>G (n.3030+68A>G) c.8141A>G (p.Glu2714Gly) n.2070A>G c.8270A>G (p.Glu2757Gly)	ClinVar
2	g.73490226A>T	CA347268053	ALMS1	c.7886A>T (p.Glu2629Val) c.1278A>T c.5338A>T c.2333A>T (p.Glu778Val) c.8267A>T (p.Glu2756Val) c.896-29549A>T c.3030+68A>T (n.3030+68A>T) c.8141A>T (p.Glu2714Val) n.2070A>T c.8270A>T (p.Glu2757Val)
2	g.73490227A=	CA1260981715	ALMS1	c.7887A= (p.Glu2629=) c.1279A= c.5339A= c.2334A= (p.Glu778=) c.8268A= (p.Glu2756=) c.896-29548A= c.3030+69A= (n.3030+69A=) c.8142A= (p.Glu2714=) n.2071A= c.8271A= (p.Glu2757=)
2	g.73490227A>C	CA347268055	ALMS1	c.7887A>C (p.Glu2629Asp) c.1279A>C c.5339A>C c.2334A>C (p.Glu778Asp) c.8268A>C (p.Glu2756Asp) c.896-29548A>C c.3030+69A>C (n.3030+69A>C) c.8142A>C (p.Glu2714Asp) n.2071A>C c.8271A>C (p.Glu2757Asp)
2	g.73490227A>G	CA10586838	ALMS1	c.7887A>G (p.Glu2629=) c.1279A>G c.5339A>G c.2334A>G (p.Glu778=) c.8268A>G (p.Glu2756=) c.896-29548A>G c.3030+69A>G (n.3030+69A>G) c.8142A>G (p.Glu2714=) n.2071A>G c.8271A>G (p.Glu2757=)	ClinVar dbSNP
2	g.73490227A>T	CA347268057	ALMS1	c.7887A>T (p.Glu2629Asp) c.1279A>T c.5339A>T c.2334A>T (p.Glu778Asp) c.8268A>T (p.Glu2756Asp) c.896-29548A>T c.3030+69A>T (n.3030+69A>T) c.8142A>T (p.Glu2714Asp) n.2071A>T c.8271A>T (p.Glu2757Asp)	gnomAD v4
2	g.73490228G>A	CA347268059	ALMS1	c.7888G>A (p.Glu2630Lys) c.1280G>A c.5340G>A c.2335G>A (p.Glu779Lys) c.8269G>A (p.Glu2757Lys) c.896-29547G>A c.3030+70G>A (n.3030+70G>A) c.8143G>A (p.Glu2715Lys) n.2072G>A c.8272G>A (p.Glu2758Lys)	gnomAD v4
2	g.73490228G>C	CA347268062	ALMS1	c.7888G>C (p.Glu2630Gln) c.1280G>C c.5340G>C c.2335G>C (p.Glu779Gln) c.8269G>C (p.Glu2757Gln) c.896-29547G>C c.3030+70G>C (n.3030+70G>C) c.8143G>C (p.Glu2715Gln) n.2072G>C c.8272G>C (p.Glu2758Gln)
2	g.73490228G>T	CA347268061	ALMS1	c.7888G>T (p.Glu2630Ter) c.1280G>T c.5340G>T c.2335G>T (p.Glu779Ter) c.8269G>T (p.Glu2757Ter) c.896-29547G>T c.3030+70G>T (n.3030+70G>T) c.8143G>T (p.Glu2715Ter) n.2072G>T c.8272G>T (p.Glu2758Ter)
2	g.73490229A=	CA1260981716	ALMS1	c.7889A= (p.Glu2630=) c.1281A= c.5341A= c.2336A= (p.Glu779=) c.8270A= (p.Glu2757=) c.896-29546A= c.3030+71A= (n.3030+71A=) c.8144A= (p.Glu2715=) n.2073A= c.8273A= (p.Glu2758=)
2	g.73490229A>C	CA347268064	ALMS1	c.7889A>C (p.Glu2630Ala) c.1281A>C c.5341A>C c.2336A>C (p.Glu779Ala) c.8270A>C (p.Glu2757Ala) c.896-29546A>C c.3030+71A>C (n.3030+71A>C) c.8144A>C (p.Glu2715Ala) n.2073A>C c.8273A>C (p.Glu2758Ala)	dbSNP
2	g.73490229A>G	CA347268065	ALMS1	c.7889A>G (p.Glu2630Gly) c.1281A>G c.5341A>G c.2336A>G (p.Glu779Gly) c.8270A>G (p.Glu2757Gly) c.896-29546A>G c.3030+71A>G (n.3030+71A>G) c.8144A>G (p.Glu2715Gly) n.2073A>G c.8273A>G (p.Glu2758Gly)
2	g.73490229A>T	CA347268067	ALMS1	c.7889A>T (p.Glu2630Val) c.1281A>T c.5341A>T c.2336A>T (p.Glu779Val) c.8270A>T (p.Glu2757Val) c.896-29546A>T c.3030+71A>T (n.3030+71A>T) c.8144A>T (p.Glu2715Val) n.2073A>T c.8273A>T (p.Glu2758Val)
2	g.73490230A>C	CA347268069	ALMS1	c.7890A>C (p.Glu2630Asp) c.1282A>C c.5342A>C c.2337A>C (p.Glu779Asp) c.8271A>C (p.Glu2757Asp) c.896-29545A>C c.3030+72A>C (n.3030+72A>C) c.8145A>C (p.Glu2715Asp) n.2074A>C c.8274A>C (p.Glu2758Asp)
2	g.73490230A>G	CA427001350	ALMS1	c.7890A>G (p.Glu2630=) c.1282A>G c.5342A>G c.2337A>G (p.Glu779=) c.8271A>G (p.Glu2757=) c.896-29545A>G c.3030+72A>G (n.3030+72A>G) c.8145A>G (p.Glu2715=) n.2074A>G c.8274A>G (p.Glu2758=)	gnomAD v4
2	g.73490230A>T	CA347268070	ALMS1	c.7890A>T (p.Glu2630Asp) c.1282A>T c.5342A>T c.2337A>T (p.Glu779Asp) c.8271A>T (p.Glu2757Asp) c.896-29545A>T c.3030+72A>T (n.3030+72A>T) c.8145A>T (p.Glu2715Asp) n.2074A>T c.8274A>T (p.Glu2758Asp)	gnomAD v4
2	g.73490231C>A	CA347268073	ALMS1	c.7891C>A (p.Gln2631Lys) c.1283C>A c.5343C>A c.2338C>A (p.Gln780Lys) c.8272C>A (p.Gln2758Lys) c.896-29544C>A c.3030+73C>A (n.3030+73C>A) c.8146C>A (p.Gln2716Lys) n.2075C>A c.8275C>A (p.Gln2759Lys)	ClinVar dbSNP
2	g.73490231C=	CA1260981718	ALMS1	c.7891C= (p.Gln2631=) c.1283C= c.5343C= c.2338C= (p.Gln780=) c.8272C= (p.Gln2758=) c.896-29544C= c.3030+73C= (n.3030+73C=) c.8146C= (p.Gln2716=) n.2075C= c.8275C= (p.Gln2759=)
2	g.73490231C>G	CA347268074	ALMS1	c.7891C>G (p.Gln2631Glu) c.1283C>G c.5343C>G c.2338C>G (p.Gln780Glu) c.8272C>G (p.Gln2758Glu) c.896-29544C>G c.3030+73C>G (n.3030+73C>G) c.8146C>G (p.Gln2716Glu) n.2075C>G c.8275C>G (p.Gln2759Glu)
2	g.73490231C>T	CA1714434	ALMS1	c.7891C>T (p.Gln2631Ter) c.1283C>T c.5343C>T c.2338C>T (p.Gln780Ter) c.8272C>T (p.Gln2758Ter) c.896-29544C>T c.3030+73C>T (n.3030+73C>T) c.8146C>T (p.Gln2716Ter) n.2075C>T c.8275C>T (p.Gln2759Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490232A=	CA1260981725	ALMS1	c.7892A= (p.Gln2631=) c.1284A= c.5344A= c.2339A= (p.Gln780=) c.8273A= (p.Gln2758=) c.896-29543A= c.3030+74A= (n.3030+74A=) c.8147A= (p.Gln2716=) n.2076A= c.8276A= (p.Gln2759=)
2	g.73490232A>C	CA347268079	ALMS1	c.7892A>C (p.Gln2631Pro) c.1284A>C c.5344A>C c.2339A>C (p.Gln780Pro) c.8273A>C (p.Gln2758Pro) c.896-29543A>C c.3030+74A>C (n.3030+74A>C) c.8147A>C (p.Gln2716Pro) n.2076A>C c.8276A>C (p.Gln2759Pro)
2	g.73490232A>G	CA347268077	ALMS1	c.7892A>G (p.Gln2631Arg) c.1284A>G c.5344A>G c.2339A>G (p.Gln780Arg) c.8273A>G (p.Gln2758Arg) c.896-29543A>G c.3030+74A>G (n.3030+74A>G) c.8147A>G (p.Gln2716Arg) n.2076A>G c.8276A>G (p.Gln2759Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490232A>T	CA347268080	ALMS1	c.7892A>T (p.Gln2631Leu) c.1284A>T c.5344A>T c.2339A>T (p.Gln780Leu) c.8273A>T (p.Gln2758Leu) c.896-29543A>T c.3030+74A>T (n.3030+74A>T) c.8147A>T (p.Gln2716Leu) n.2076A>T c.8276A>T (p.Gln2759Leu)
2	g.73490233A=	CA1260981733	ALMS1	c.7893A= (p.Gln2631=) c.1285A= c.5345A= c.2340A= (p.Gln780=) c.8274A= (p.Gln2758=) c.896-29542A= c.3030+75A= (n.3030+75A=) c.8148A= (p.Gln2716=) n.2077A= c.8277A= (p.Gln2759=)
2	g.73490233A>C	CA347268081	ALMS1	c.7893A>C (p.Gln2631His) c.1285A>C c.5345A>C c.2340A>C (p.Gln780His) c.8274A>C (p.Gln2758His) c.896-29542A>C c.3030+75A>C (n.3030+75A>C) c.8148A>C (p.Gln2716His) n.2077A>C c.8277A>C (p.Gln2759His)
2	g.73490233A>G	CA1714435	ALMS1	c.7893A>G (p.Gln2631=) c.1285A>G c.5345A>G c.2340A>G (p.Gln780=) c.8274A>G (p.Gln2758=) c.896-29542A>G c.3030+75A>G (n.3030+75A>G) c.8148A>G (p.Gln2716=) n.2077A>G c.8277A>G (p.Gln2759=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490233A>T	CA347268082	ALMS1	c.7893A>T (p.Gln2631His) c.1285A>T c.5345A>T c.2340A>T (p.Gln780His) c.8274A>T (p.Gln2758His) c.896-29542A>T c.3030+75A>T (n.3030+75A>T) c.8148A>T (p.Gln2716His) n.2077A>T c.8277A>T (p.Gln2759His)
2	g.73490234A>C	CA347268084	ALMS1	c.7894A>C (p.Asn2632His) c.1286A>C c.5346A>C c.2341A>C (p.Asn781His) c.8275A>C (p.Asn2759His) c.896-29541A>C c.3030+76A>C (n.3030+76A>C) c.8149A>C (p.Asn2717His) n.2078A>C c.8278A>C (p.Asn2760His)	gnomAD v4
2	g.73490234A>G	CA347268086	ALMS1	c.7894A>G (p.Asn2632Asp) c.1286A>G c.5346A>G c.2341A>G (p.Asn781Asp) c.8275A>G (p.Asn2759Asp) c.896-29541A>G c.3030+76A>G (n.3030+76A>G) c.8149A>G (p.Asn2717Asp) n.2078A>G c.8278A>G (p.Asn2760Asp)
2	g.73490234A>T	CA347268087	ALMS1	c.7894A>T (p.Asn2632Tyr) c.1286A>T c.5346A>T c.2341A>T (p.Asn781Tyr) c.8275A>T (p.Asn2759Tyr) c.896-29541A>T c.3030+76A>T (n.3030+76A>T) c.8149A>T (p.Asn2717Tyr) n.2078A>T c.8278A>T (p.Asn2760Tyr)	ClinVar
2	g.73490235A>C	CA347268092	ALMS1	c.7895A>C (p.Asn2632Thr) c.1287A>C c.5347A>C c.2342A>C (p.Asn781Thr) c.8276A>C (p.Asn2759Thr) c.896-29540A>C c.3030+77A>C (n.3030+77A>C) c.8150A>C (p.Asn2717Thr) n.2079A>C c.8279A>C (p.Asn2760Thr)
2	g.73490235A>G	CA347268089	ALMS1	c.7895A>G (p.Asn2632Ser) c.1287A>G c.5347A>G c.2342A>G (p.Asn781Ser) c.8276A>G (p.Asn2759Ser) c.896-29540A>G c.3030+77A>G (n.3030+77A>G) c.8150A>G (p.Asn2717Ser) n.2079A>G c.8279A>G (p.Asn2760Ser)	gnomAD v4
2	g.73490235A>T	CA347268091	ALMS1	c.7895A>T (p.Asn2632Ile) c.1287A>T c.5347A>T c.2342A>T (p.Asn781Ile) c.8276A>T (p.Asn2759Ile) c.896-29540A>T c.3030+77A>T (n.3030+77A>T) c.8150A>T (p.Asn2717Ile) n.2079A>T c.8279A>T (p.Asn2760Ile)
2	g.73490236T>A	CA347268094	ALMS1	c.7896T>A (p.Asn2632Lys) c.1288T>A c.5348T>A c.2343T>A (p.Asn781Lys) c.8277T>A (p.Asn2759Lys) c.896-29539T>A c.3030+78T>A (n.3030+78T>A) c.8151T>A (p.Asn2717Lys) n.2080T>A c.8280T>A (p.Asn2760Lys)
2	g.73490236T>C	CA427001370	ALMS1	c.7896T>C (p.Asn2632=) c.1288T>C c.5348T>C c.2343T>C (p.Asn781=) c.8277T>C (p.Asn2759=) c.896-29539T>C c.3030+78T>C (n.3030+78T>C) c.8151T>C (p.Asn2717=) n.2080T>C c.8280T>C (p.Asn2760=)
2	g.73490236T>G	CA347268095	ALMS1	c.7896T>G (p.Asn2632Lys) c.1288T>G c.5348T>G c.2343T>G (p.Asn781Lys) c.8277T>G (p.Asn2759Lys) c.896-29539T>G c.3030+78T>G (n.3030+78T>G) c.8151T>G (p.Asn2717Lys) n.2080T>G c.8280T>G (p.Asn2760Lys)
2	g.73490237C>A	CA347268097	ALMS1	c.7897C>A (p.Pro2633Thr) c.1289C>A c.5349C>A c.2344C>A (p.Pro782Thr) c.8278C>A (p.Pro2760Thr) c.896-29538C>A c.3030+79C>A (n.3030+79C>A) c.8152C>A (p.Pro2718Thr) n.2081C>A c.8281C>A (p.Pro2761Thr)
2	g.73490237C=	CA1260981737	ALMS1	c.7897C= (p.Pro2633=) c.1289C= c.5349C= c.2344C= (p.Pro782=) c.8278C= (p.Pro2760=) c.896-29538C= c.3030+79C= (n.3030+79C=) c.8152C= (p.Pro2718=) n.2081C= c.8281C= (p.Pro2761=)
2	g.73490237C>G	CA347268098	ALMS1	c.7897C>G (p.Pro2633Ala) c.1289C>G c.5349C>G c.2344C>G (p.Pro782Ala) c.8278C>G (p.Pro2760Ala) c.896-29538C>G c.3030+79C>G (n.3030+79C>G) c.8152C>G (p.Pro2718Ala) n.2081C>G c.8281C>G (p.Pro2761Ala)
2	g.73490237C>T	CA1714436	ALMS1	c.7897C>T (p.Pro2633Ser) c.1289C>T c.5349C>T c.2344C>T (p.Pro782Ser) c.8278C>T (p.Pro2760Ser) c.896-29538C>T c.3030+79C>T (n.3030+79C>T) c.8152C>T (p.Pro2718Ser) n.2081C>T c.8281C>T (p.Pro2761Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490238C>A	CA1714438	ALMS1	c.7898C>A (p.Pro2633His) c.1290C>A c.5350C>A c.2345C>A (p.Pro782His) c.8279C>A (p.Pro2760His) c.896-29537C>A c.3030+80C>A (n.3030+80C>A) c.8153C>A (p.Pro2718His) n.2082C>A c.8282C>A (p.Pro2761His)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490238C=	CA1260981741	ALMS1	c.7898C= (p.Pro2633=) c.1290C= c.5350C= c.2345C= (p.Pro782=) c.8279C= (p.Pro2760=) c.896-29537C= c.3030+80C= (n.3030+80C=) c.8153C= (p.Pro2718=) n.2082C= c.8282C= (p.Pro2761=)
2	g.73490238C>G	CA1714437	ALMS1	c.7898C>G (p.Pro2633Arg) c.1290C>G c.5350C>G c.2345C>G (p.Pro782Arg) c.8279C>G (p.Pro2760Arg) c.896-29537C>G c.3030+80C>G (n.3030+80C>G) c.8153C>G (p.Pro2718Arg) n.2082C>G c.8282C>G (p.Pro2761Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490238C>T	CA347268102	ALMS1	c.7898C>T (p.Pro2633Leu) c.1290C>T c.5350C>T c.2345C>T (p.Pro782Leu) c.8279C>T (p.Pro2760Leu) c.896-29537C>T c.3030+80C>T (n.3030+80C>T) c.8153C>T (p.Pro2718Leu) n.2082C>T c.8282C>T (p.Pro2761Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490239T>A	CA427001380	ALMS1	c.7899T>A (p.Pro2633=) c.1291T>A c.5351T>A c.2346T>A (p.Pro782=) c.8280T>A (p.Pro2760=) c.896-29536T>A c.3030+81T>A (n.3030+81T>A) c.8154T>A (p.Pro2718=) n.2083T>A c.8283T>A (p.Pro2761=)
2	g.73490239T>C	CA427001382	ALMS1	c.7899T>C (p.Pro2633=) c.1291T>C c.5351T>C c.2346T>C (p.Pro782=) c.8280T>C (p.Pro2760=) c.896-29536T>C c.3030+81T>C (n.3030+81T>C) c.8154T>C (p.Pro2718=) n.2083T>C c.8283T>C (p.Pro2761=)
2	g.73490239T>G	CA427001384	ALMS1	c.7899T>G (p.Pro2633=) c.1291T>G c.5351T>G c.2346T>G (p.Pro782=) c.8280T>G (p.Pro2760=) c.896-29536T>G c.3030+81T>G (n.3030+81T>G) c.8154T>G (p.Pro2718=) n.2083T>G c.8283T>G (p.Pro2761=)
2	g.73490240C>A	CA347268104	ALMS1	c.7900C>A (p.Pro2634Thr) c.1292C>A c.5352C>A c.2347C>A (p.Pro783Thr) c.8281C>A (p.Pro2761Thr) c.896-29535C>A c.3030+82C>A (n.3030+82C>A) c.8155C>A (p.Pro2719Thr) n.2084C>A c.8284C>A (p.Pro2762Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490240C=	CA1260981747	ALMS1	c.7900C= (p.Pro2634=) c.1292C= c.5352C= c.2347C= (p.Pro783=) c.8281C= (p.Pro2761=) c.896-29535C= c.3030+82C= (n.3030+82C=) c.8155C= (p.Pro2719=) n.2084C= c.8284C= (p.Pro2762=)
2	g.73490240C>G	CA1714439	ALMS1	c.7900C>G (p.Pro2634Ala) c.1292C>G c.5352C>G c.2347C>G (p.Pro783Ala) c.8281C>G (p.Pro2761Ala) c.896-29535C>G c.3030+82C>G (n.3030+82C>G) c.8155C>G (p.Pro2719Ala) n.2084C>G c.8284C>G (p.Pro2762Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490240C>T	CA1714440	ALMS1	c.7900C>T (p.Pro2634Ser) c.1292C>T c.5352C>T c.2347C>T (p.Pro783Ser) c.8281C>T (p.Pro2761Ser) c.896-29535C>T c.3030+82C>T (n.3030+82C>T) c.8155C>T (p.Pro2719Ser) n.2084C>T c.8284C>T (p.Pro2762Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490240_73490242delinsACT	CA2580068250	ALMS1	c.7900_7902delinsACT (p.Pro2634Thr) c.1292_1294delinsACT c.5352_5354delinsACT c.2347_2349delinsACT (p.Pro783Thr) c.8281_8283delinsACT (p.Pro2761Thr) c.896-29535_896-29533delinsACT c.3030+82_3030+84delinsACT (n.3030+82_3030+84delinsACT) c.8155_8157delinsACT (p.Pro2719Thr) n.2084_2086delinsACT c.8284_8286delinsACT (p.Pro2762Thr)	ClinVar
2	g.73490241C>A	CA347268107	ALMS1	c.7901C>A (p.Pro2634His) c.1293C>A c.5353C>A c.2348C>A (p.Pro783His) c.8282C>A (p.Pro2761His) c.896-29534C>A c.3030+83C>A (n.3030+83C>A) c.8156C>A (p.Pro2719His) n.2085C>A c.8285C>A (p.Pro2762His)
2	g.73490241C>G	CA347268108	ALMS1	c.7901C>G (p.Pro2634Arg) c.1293C>G c.5353C>G c.2348C>G (p.Pro783Arg) c.8282C>G (p.Pro2761Arg) c.896-29534C>G c.3030+83C>G (n.3030+83C>G) c.8156C>G (p.Pro2719Arg) n.2085C>G c.8285C>G (p.Pro2762Arg)
2	g.73490241C>T	CA347268109	ALMS1	c.7901C>T (p.Pro2634Leu) c.1293C>T c.5353C>T c.2348C>T (p.Pro783Leu) c.8282C>T (p.Pro2761Leu) c.896-29534C>T c.3030+83C>T (n.3030+83C>T) c.8156C>T (p.Pro2719Leu) n.2085C>T c.8285C>T (p.Pro2762Leu)	gnomAD v4
2	g.73490242C>A	CA427001391	ALMS1	c.7902C>A (p.Pro2634=) c.1294C>A c.5354C>A c.2349C>A (p.Pro783=) c.8283C>A (p.Pro2761=) c.896-29533C>A c.3030+84C>A (n.3030+84C>A) c.8157C>A (p.Pro2719=) n.2086C>A c.8286C>A (p.Pro2762=)
2	g.73490242C=	CA1260981755	ALMS1	c.7902C= (p.Pro2634=) c.1294C= c.5354C= c.2349C= (p.Pro783=) c.8283C= (p.Pro2761=) c.896-29533C= c.3030+84C= (n.3030+84C=) c.8157C= (p.Pro2719=) n.2086C= c.8286C= (p.Pro2762=)
2	g.73490242C>G	CA427001393	ALMS1	c.7902C>G (p.Pro2634=) c.1294C>G c.5354C>G c.2349C>G (p.Pro783=) c.8283C>G (p.Pro2761=) c.896-29533C>G c.3030+84C>G (n.3030+84C>G) c.8157C>G (p.Pro2719=) n.2086C>G c.8286C>G (p.Pro2762=)
2	g.73490242C>T	CA427001395	ALMS1	c.7902C>T (p.Pro2634=) c.1294C>T c.5354C>T c.2349C>T (p.Pro783=) c.8283C>T (p.Pro2761=) c.896-29533C>T c.3030+84C>T (n.3030+84C>T) c.8157C>T (p.Pro2719=) n.2086C>T c.8286C>T (p.Pro2762=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490242_73490244del	CA2750465617	ALMS1	c.7902_7904del (p.Arg2635del) c.1294_1296del c.5354_5356del c.2349_2351del (p.Arg784del) c.8283_8285del (p.Arg2762del) c.896-29533_896-29531del c.3030+84_3030+86del (n.3030+84_3030+86del) c.8157_8159del (p.Arg2720del) n.2086_2088del c.8286_8288del (p.Arg2763del)
2	g.73490243A=	CA1260981767	ALMS1	c.7903A= (p.Arg2635=) c.1295A= c.5355A= c.2350A= (p.Arg784=) c.8284A= (p.Arg2762=) c.896-29532A= c.3030+85A= (n.3030+85A=) c.8158A= (p.Arg2720=) n.2087A= c.8287A= (p.Arg2763=)
2	g.73490243A>C	CA427001397	ALMS1	c.7903A>C (p.Arg2635=) c.1295A>C c.5355A>C c.2350A>C (p.Arg784=) c.8284A>C (p.Arg2762=) c.896-29532A>C c.3030+85A>C (n.3030+85A>C) c.8158A>C (p.Arg2720=) n.2087A>C c.8287A>C (p.Arg2763=)
2	g.73490243A>G	CA347268110	ALMS1	c.7903A>G (p.Arg2635Gly) c.1295A>G c.5355A>G c.2350A>G (p.Arg784Gly) c.8284A>G (p.Arg2762Gly) c.896-29532A>G c.3030+85A>G (n.3030+85A>G) c.8158A>G (p.Arg2720Gly) n.2087A>G c.8287A>G (p.Arg2763Gly)
2	g.73490243A>T	CA347268111	ALMS1	c.7903A>T (p.Arg2635Ter) c.1295A>T c.5355A>T c.2350A>T (p.Arg784Ter) c.8284A>T (p.Arg2762Ter) c.896-29532A>T c.3030+85A>T (n.3030+85A>T) c.8158A>T (p.Arg2720Ter) n.2087A>T c.8287A>T (p.Arg2763Ter)	dbSNP gnomAD v3 gnomAD v4
2	g.73490244G>A	CA347268113	ALMS1	c.7904G>A (p.Arg2635Lys) c.1296G>A c.5356G>A c.2351G>A (p.Arg784Lys) c.8285G>A (p.Arg2762Lys) c.896-29531G>A c.3030+86G>A (n.3030+86G>A) c.8159G>A (p.Arg2720Lys) n.2088G>A c.8288G>A (p.Arg2763Lys)
2	g.73490244G>C	CA347268115	ALMS1	c.7904G>C (p.Arg2635Thr) c.1296G>C c.5356G>C c.2351G>C (p.Arg784Thr) c.8285G>C (p.Arg2762Thr) c.896-29531G>C c.3030+86G>C (n.3030+86G>C) c.8159G>C (p.Arg2720Thr) n.2088G>C c.8288G>C (p.Arg2763Thr)
2	g.73490244G>T	CA347268116	ALMS1	c.7904G>T (p.Arg2635Ile) c.1296G>T c.5356G>T c.2351G>T (p.Arg784Ile) c.8285G>T (p.Arg2762Ile) c.896-29531G>T c.3030+86G>T (n.3030+86G>T) c.8159G>T (p.Arg2720Ile) n.2088G>T c.8288G>T (p.Arg2763Ile)
2	g.73490245A>C	CA347268117	ALMS1	c.7905A>C (p.Arg2635Ser) c.1297A>C c.5357A>C c.2352A>C (p.Arg784Ser) c.8286A>C (p.Arg2762Ser) c.896-29530A>C c.3030+87A>C (n.3030+87A>C) c.8160A>C (p.Arg2720Ser) n.2089A>C c.8289A>C (p.Arg2763Ser)
2	g.73490245A>G	CA427001402	ALMS1	c.7905A>G (p.Arg2635=) c.1297A>G c.5357A>G c.2352A>G (p.Arg784=) c.8286A>G (p.Arg2762=) c.896-29530A>G c.3030+87A>G (n.3030+87A>G) c.8160A>G (p.Arg2720=) n.2089A>G c.8289A>G (p.Arg2763=)	ClinVar dbSNP
2	g.73490245A>T	CA347268119	ALMS1	c.7905A>T (p.Arg2635Ser) c.1297A>T c.5357A>T c.2352A>T (p.Arg784Ser) c.8286A>T (p.Arg2762Ser) c.896-29530A>T c.3030+87A>T (n.3030+87A>T) c.8160A>T (p.Arg2720Ser) n.2089A>T c.8289A>T (p.Arg2763Ser)
2	g.73490246G>A	CA347268121	ALMS1	c.7906G>A (p.Asp2636Asn) c.1298G>A c.5358G>A c.2353G>A (p.Asp785Asn) c.8287G>A (p.Asp2763Asn) c.896-29529G>A c.3030+88G>A (n.3030+88G>A) c.8161G>A (p.Asp2721Asn) n.2090G>A c.8290G>A (p.Asp2764Asn)
2	g.73490246G>C	CA347268123	ALMS1	c.7906G>C (p.Asp2636His) c.1298G>C c.5358G>C c.2353G>C (p.Asp785His) c.8287G>C (p.Asp2763His) c.896-29529G>C c.3030+88G>C (n.3030+88G>C) c.8161G>C (p.Asp2721His) n.2090G>C c.8290G>C (p.Asp2764His)
2	g.73490246G>T	CA347268125	ALMS1	c.7906G>T (p.Asp2636Tyr) c.1298G>T c.5358G>T c.2353G>T (p.Asp785Tyr) c.8287G>T (p.Asp2763Tyr) c.896-29529G>T c.3030+88G>T (n.3030+88G>T) c.8161G>T (p.Asp2721Tyr) n.2090G>T c.8290G>T (p.Asp2764Tyr)
2	g.73490247A=	CA1260981771	ALMS1	c.7907A= (p.Asp2636=) c.1299A= c.5359A= c.2354A= (p.Asp785=) c.8288A= (p.Asp2763=) c.896-29528A= c.3030+89A= (n.3030+89A=) c.8162A= (p.Asp2721=) n.2091A= c.8291A= (p.Asp2764=)
2	g.73490247A>C	CA347268127	ALMS1	c.7907A>C (p.Asp2636Ala) c.1299A>C c.5359A>C c.2354A>C (p.Asp785Ala) c.8288A>C (p.Asp2763Ala) c.896-29528A>C c.3030+89A>C (n.3030+89A>C) c.8162A>C (p.Asp2721Ala) n.2091A>C c.8291A>C (p.Asp2764Ala)
2	g.73490247A>G	CA347268129	ALMS1	c.7907A>G (p.Asp2636Gly) c.1299A>G c.5359A>G c.2354A>G (p.Asp785Gly) c.8288A>G (p.Asp2763Gly) c.896-29528A>G c.3030+89A>G (n.3030+89A>G) c.8162A>G (p.Asp2721Gly) n.2091A>G c.8291A>G (p.Asp2764Gly)	dbSNP
2	g.73490247A>T	CA347268130	ALMS1	c.7907A>T (p.Asp2636Val) c.1299A>T c.5359A>T c.2354A>T (p.Asp785Val) c.8288A>T (p.Asp2763Val) c.896-29528A>T c.3030+89A>T (n.3030+89A>T) c.8162A>T (p.Asp2721Val) n.2091A>T c.8291A>T (p.Asp2764Val)	gnomAD v4
2	g.73490248T>A	CA347268134	ALMS1	c.7908T>A (p.Asp2636Glu) c.1300T>A c.5360T>A c.2355T>A (p.Asp785Glu) c.8289T>A (p.Asp2763Glu) c.896-29527T>A c.3030+90T>A (n.3030+90T>A) c.8163T>A (p.Asp2721Glu) n.2092T>A c.8292T>A (p.Asp2764Glu)
2	g.73490248T>C	CA427001413	ALMS1	c.7908T>C (p.Asp2636=) c.1300T>C c.5360T>C c.2355T>C (p.Asp785=) c.8289T>C (p.Asp2763=) c.896-29527T>C c.3030+90T>C (n.3030+90T>C) c.8163T>C (p.Asp2721=) n.2092T>C c.8292T>C (p.Asp2764=)
2	g.73490248T>G	CA347268132	ALMS1	c.7908T>G (p.Asp2636Glu) c.1300T>G c.5360T>G c.2355T>G (p.Asp785Glu) c.8289T>G (p.Asp2763Glu) c.896-29527T>G c.3030+90T>G (n.3030+90T>G) c.8163T>G (p.Asp2721Glu) n.2092T>G c.8292T>G (p.Asp2764Glu)
2	g.73490249C>A	CA347268135	ALMS1	c.7909C>A (p.Leu2637Ile) c.1301C>A c.5361C>A c.2356C>A (p.Leu786Ile) c.8290C>A (p.Leu2764Ile) c.896-29526C>A c.3030+91C>A (n.3030+91C>A) c.8164C>A (p.Leu2722Ile) n.2093C>A c.8293C>A (p.Leu2765Ile)	gnomAD v4
2	g.73490249C=	CA1260981774	ALMS1	c.7909C= (p.Leu2637=) c.1301C= c.5361C= c.2356C= (p.Leu786=) c.8290C= (p.Leu2764=) c.896-29526C= c.3030+91C= (n.3030+91C=) c.8164C= (p.Leu2722=) n.2093C= c.8293C= (p.Leu2765=)
2	g.73490249C>G	CA347268137	ALMS1	c.7909C>G (p.Leu2637Val) c.1301C>G c.5361C>G c.2356C>G (p.Leu786Val) c.8290C>G (p.Leu2764Val) c.896-29526C>G c.3030+91C>G (n.3030+91C>G) c.8164C>G (p.Leu2722Val) n.2093C>G c.8293C>G (p.Leu2765Val)
2	g.73490249C>T	CA347268138	ALMS1	c.7909C>T (p.Leu2637Phe) c.1301C>T c.5361C>T c.2356C>T (p.Leu786Phe) c.8290C>T (p.Leu2764Phe) c.896-29526C>T c.3030+91C>T (n.3030+91C>T) c.8164C>T (p.Leu2722Phe) n.2093C>T c.8293C>T (p.Leu2765Phe)	ClinVar dbSNP
2	g.73490249_73490256delinsCTTAAACA	CA1260981773	ALMS1	c.7909_7916delinsCTTAAACA (p.Leu2637=) c.1301_1308delinsCTTAAACA c.5361_5368delinsCTTAAACA c.2356_2363delinsCTTAAACA (p.Leu786=) c.8290_8297delinsCTTAAACA (p.Leu2764=) c.896-29526_896-29519delinsCTTAAACA c.3030+91_3030+98delinsCTTAAACA (n.3030+91_3030+98delinsCTTAAACA) c.8164_8171delinsCTTAAACA (p.Leu2722=) n.2093_2100delinsCTTAAACA c.8293_8300delinsCTTAAACA (p.Leu2765=)
2	g.73490250T>A	CA347268140	ALMS1	c.7910T>A (p.Leu2637His) c.1302T>A c.5362T>A c.2357T>A (p.Leu786His) c.8291T>A (p.Leu2764His) c.896-29525T>A c.3030+92T>A (n.3030+92T>A) c.8165T>A (p.Leu2722His) n.2094T>A c.8294T>A (p.Leu2765His)
2	g.73490250T>C	CA347268142	ALMS1	c.7910T>C (p.Leu2637Pro) c.1302T>C c.5362T>C c.2357T>C (p.Leu786Pro) c.8291T>C (p.Leu2764Pro) c.896-29525T>C c.3030+92T>C (n.3030+92T>C) c.8165T>C (p.Leu2722Pro) n.2094T>C c.8294T>C (p.Leu2765Pro)	gnomAD v4
2	g.73490250T>G	CA347268143	ALMS1	c.7910T>G (p.Leu2637Arg) c.1302T>G c.5362T>G c.2357T>G (p.Leu786Arg) c.8291T>G (p.Leu2764Arg) c.896-29525T>G c.3030+92T>G (n.3030+92T>G) c.8165T>G (p.Leu2722Arg) n.2094T>G c.8294T>G (p.Leu2765Arg)
2	g.73490250_73490251dup	CA1260981782	ALMS1	c.7910_7911dup (p.Lys2638LeufsTer22) c.1302_1303dup c.5362_5363dup c.2357_2358dup (p.Lys787LeufsTer22) c.8291_8292dup (p.Lys2765LeufsTer22) c.896-29525_896-29524dup c.3030+92_3030+93dup (n.3030+92_3030+93dup) c.8165_8166dup (p.Lys2723LeufsTer22) n.2094_2095dup c.8294_8295dup (p.Lys2766LeufsTer22)	dbSNP
2	g.73490250_73490256del	CA534125525	ALMS1	c.7910_7916del (p.Leu2637ArgfsTer20) c.1302_1308del c.5362_5368del c.2357_2363del (p.Leu786ArgfsTer20) c.8291_8297del (p.Leu2764ArgfsTer20) c.896-29525_896-29519del c.3030+92_3030+98del (n.3030+92_3030+98del) c.8165_8171del (p.Leu2722ArgfsTer20) n.2094_2100del c.8294_8300del (p.Leu2765ArgfsTer20)	dbSNP gnomAD v2
2	g.73490251T>A	CA427001422	ALMS1	c.7911T>A (p.Leu2637=) c.1303T>A c.5363T>A c.2358T>A (p.Leu786=) c.8292T>A (p.Leu2764=) c.896-29524T>A c.3030+93T>A (n.3030+93T>A) c.8166T>A (p.Leu2722=) n.2095T>A c.8295T>A (p.Leu2765=)
2	g.73490251T>C	CA427001424	ALMS1	c.7911T>C (p.Leu2637=) c.1303T>C c.5363T>C c.2358T>C (p.Leu786=) c.8292T>C (p.Leu2764=) c.896-29524T>C c.3030+93T>C (n.3030+93T>C) c.8166T>C (p.Leu2722=) n.2095T>C c.8295T>C (p.Leu2765=)
2	g.73490251T>G	CA427001425	ALMS1	c.7911T>G (p.Leu2637=) c.1303T>G c.5363T>G c.2358T>G (p.Leu786=) c.8292T>G (p.Leu2764=) c.896-29524T>G c.3030+93T>G (n.3030+93T>G) c.8166T>G (p.Leu2722=) n.2095T>G c.8295T>G (p.Leu2765=)
2	g.73490252A=	CA1260981784	ALMS1	c.7912A= (p.Lys2638=) c.1304A= c.5364A= c.2359A= (p.Lys787=) c.8293A= (p.Lys2765=) c.896-29523A= c.3030+94A= (n.3030+94A=) c.8167A= (p.Lys2723=) n.2096A= c.8296A= (p.Lys2766=)
2	g.73490252A>C	CA347268145	ALMS1	c.7912A>C (p.Lys2638Gln) c.1304A>C c.5364A>C c.2359A>C (p.Lys787Gln) c.8293A>C (p.Lys2765Gln) c.896-29523A>C c.3030+94A>C (n.3030+94A>C) c.8167A>C (p.Lys2723Gln) n.2096A>C c.8296A>C (p.Lys2766Gln)	dbSNP
2	g.73490252A>G	CA347268148	ALMS1	c.7912A>G (p.Lys2638Glu) c.1304A>G c.5364A>G c.2359A>G (p.Lys787Glu) c.8293A>G (p.Lys2765Glu) c.896-29523A>G c.3030+94A>G (n.3030+94A>G) c.8167A>G (p.Lys2723Glu) n.2096A>G c.8296A>G (p.Lys2766Glu)
2	g.73490252A>T	CA347268147	ALMS1	c.7912A>T (p.Lys2638Ter) c.1304A>T c.5364A>T c.2359A>T (p.Lys787Ter) c.8293A>T (p.Lys2765Ter) c.896-29523A>T c.3030+94A>T (n.3030+94A>T) c.8167A>T (p.Lys2723Ter) n.2096A>T c.8296A>T (p.Lys2766Ter)
2	g.73490254dup	CA2739271087	ALMS1	c.7914dup (p.Gln2639ThrfsTer10) c.1306dup c.5366dup c.2361dup (p.Gln788ThrfsTer10) c.8295dup (p.Gln2766ThrfsTer10) c.896-29521dup c.3030+96dup (n.3030+96dup) c.8169dup (p.Gln2724ThrfsTer10) n.2098dup c.8298dup (p.Gln2767ThrfsTer10)	ClinVar
2	g.73490253A>C	CA347268150	ALMS1	c.7913A>C (p.Lys2638Thr) c.1305A>C c.5365A>C c.2360A>C (p.Lys787Thr) c.8294A>C (p.Lys2765Thr) c.896-29522A>C c.3030+95A>C (n.3030+95A>C) c.8168A>C (p.Lys2723Thr) n.2097A>C c.8297A>C (p.Lys2766Thr)
2	g.73490253A>G	CA347268151	ALMS1	c.7913A>G (p.Lys2638Arg) c.1305A>G c.5365A>G c.2360A>G (p.Lys787Arg) c.8294A>G (p.Lys2765Arg) c.896-29522A>G c.3030+95A>G (n.3030+95A>G) c.8168A>G (p.Lys2723Arg) n.2097A>G c.8297A>G (p.Lys2766Arg)
2	g.73490253A>T	CA347268153	ALMS1	c.7913A>T (p.Lys2638Ile) c.1305A>T c.5365A>T c.2360A>T (p.Lys787Ile) c.8294A>T (p.Lys2765Ile) c.896-29522A>T c.3030+95A>T (n.3030+95A>T) c.8168A>T (p.Lys2723Ile) n.2097A>T c.8297A>T (p.Lys2766Ile)
2	g.73490254A>C	CA347268155	ALMS1	c.7914A>C (p.Lys2638Asn) c.1306A>C c.5366A>C c.2361A>C (p.Lys787Asn) c.8295A>C (p.Lys2765Asn) c.896-29521A>C c.3030+96A>C (n.3030+96A>C) c.8169A>C (p.Lys2723Asn) n.2098A>C c.8298A>C (p.Lys2766Asn)
2	g.73490254A>G	CA427001430	ALMS1	c.7914A>G (p.Lys2638=) c.1306A>G c.5366A>G c.2361A>G (p.Lys787=) c.8295A>G (p.Lys2765=) c.896-29521A>G c.3030+96A>G (n.3030+96A>G) c.8169A>G (p.Lys2723=) n.2098A>G c.8298A>G (p.Lys2766=)	gnomAD v4
2	g.73490254A>T	CA347268156	ALMS1	c.7914A>T (p.Lys2638Asn) c.1306A>T c.5366A>T c.2361A>T (p.Lys787Asn) c.8295A>T (p.Lys2765Asn) c.896-29521A>T c.3030+96A>T (n.3030+96A>T) c.8169A>T (p.Lys2723Asn) n.2098A>T c.8298A>T (p.Lys2766Asn)
2	g.73490255C>A	CA347268158	ALMS1	c.7915C>A (p.Gln2639Lys) c.1307C>A c.5367C>A c.2362C>A (p.Gln788Lys) c.8296C>A (p.Gln2766Lys) c.896-29520C>A c.3030+97C>A (n.3030+97C>A) c.8170C>A (p.Gln2724Lys) n.2099C>A c.8299C>A (p.Gln2767Lys)
2	g.73490255C>G	CA347268160	ALMS1	c.7915C>G (p.Gln2639Glu) c.1307C>G c.5367C>G c.2362C>G (p.Gln788Glu) c.8296C>G (p.Gln2766Glu) c.896-29520C>G c.3030+97C>G (n.3030+97C>G) c.8170C>G (p.Gln2724Glu) n.2099C>G c.8299C>G (p.Gln2767Glu)	ClinVar
2	g.73490255C>T	CA347268161	ALMS1	c.7915C>T (p.Gln2639Ter) c.1307C>T c.5367C>T c.2362C>T (p.Gln788Ter) c.8296C>T (p.Gln2766Ter) c.896-29520C>T c.3030+97C>T (n.3030+97C>T) c.8170C>T (p.Gln2724Ter) n.2099C>T c.8299C>T (p.Gln2767Ter)	gnomAD v4
2	g.73490256A>C	CA347268163	ALMS1	c.7916A>C (p.Gln2639Pro) c.1308A>C c.5368A>C c.2363A>C (p.Gln788Pro) c.8297A>C (p.Gln2766Pro) c.896-29519A>C c.3030+98A>C (n.3030+98A>C) c.8171A>C (p.Gln2724Pro) n.2100A>C c.8300A>C (p.Gln2767Pro)
2	g.73490256A>G	CA347268165	ALMS1	c.7916A>G (p.Gln2639Arg) c.1308A>G c.5368A>G c.2363A>G (p.Gln788Arg) c.8297A>G (p.Gln2766Arg) c.896-29519A>G c.3030+98A>G (n.3030+98A>G) c.8171A>G (p.Gln2724Arg) n.2100A>G c.8300A>G (p.Gln2767Arg)
2	g.73490256A>T	CA347268167	ALMS1	c.7916A>T (p.Gln2639Leu) c.1308A>T c.5368A>T c.2363A>T (p.Gln788Leu) c.8297A>T (p.Gln2766Leu) c.896-29519A>T c.3030+98A>T (n.3030+98A>T) c.8171A>T (p.Gln2724Leu) n.2100A>T c.8300A>T (p.Gln2767Leu)
2	g.73490257G>A	CA427001443	ALMS1	c.7917G>A (p.Gln2639=) c.1309G>A c.5369G>A c.2364G>A (p.Gln788=) c.8298G>A (p.Gln2766=) c.896-29518G>A c.3030+99G>A (n.3030+99G>A) c.8172G>A (p.Gln2724=) n.2101G>A c.8301G>A (p.Gln2767=)	ClinVar
2	g.73490257G>C	CA347268169	ALMS1	c.7917G>C (p.Gln2639His) c.1309G>C c.5369G>C c.2364G>C (p.Gln788His) c.8298G>C (p.Gln2766His) c.896-29518G>C c.3030+99G>C (n.3030+99G>C) c.8172G>C (p.Gln2724His) n.2101G>C c.8301G>C (p.Gln2767His)
2	g.73490257G>T	CA347268170	ALMS1	c.7917G>T (p.Gln2639His) c.1309G>T c.5369G>T c.2364G>T (p.Gln788His) c.8298G>T (p.Gln2766His) c.896-29518G>T c.3030+99G>T (n.3030+99G>T) c.8172G>T (p.Gln2724His) n.2101G>T c.8301G>T (p.Gln2767His)
2	g.73490258A=	CA1260981786	ALMS1	c.7918A= (p.Lys2640=) c.1310A= c.5370A= c.2365A= (p.Lys789=) c.8299A= (p.Lys2767=) c.896-29517A= c.3030+100A= (n.3030+100A=) c.8173A= (p.Lys2725=) n.2102A= c.8302A= (p.Lys2768=)
2	g.73490258A>C	CA347268172	ALMS1	c.7918A>C (p.Lys2640Gln) c.1310A>C c.5370A>C c.2365A>C (p.Lys789Gln) c.8299A>C (p.Lys2767Gln) c.896-29517A>C c.3030+100A>C (n.3030+100A>C) c.8173A>C (p.Lys2725Gln) n.2102A>C c.8302A>C (p.Lys2768Gln)
2	g.73490258A>G	CA1714441	ALMS1	c.7918A>G (p.Lys2640Glu) c.1310A>G c.5370A>G c.2365A>G (p.Lys789Glu) c.8299A>G (p.Lys2767Glu) c.896-29517A>G c.3030+100A>G (n.3030+100A>G) c.8173A>G (p.Lys2725Glu) n.2102A>G c.8302A>G (p.Lys2768Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490258A>T	CA347268174	ALMS1	c.7918A>T (p.Lys2640Ter) c.1310A>T c.5370A>T c.2365A>T (p.Lys789Ter) c.8299A>T (p.Lys2767Ter) c.896-29517A>T c.3030+100A>T (n.3030+100A>T) c.8173A>T (p.Lys2725Ter) n.2102A>T c.8302A>T (p.Lys2768Ter)
2	g.73490259A=	CA1260981789	ALMS1	c.7919A= (p.Lys2640=) c.1311A= c.5371A= c.2366A= (p.Lys789=) c.8300A= (p.Lys2767=) c.896-29516A= c.3030+101A= (n.3030+101A=) c.8174A= (p.Lys2725=) n.2103A= c.8303A= (p.Lys2768=)
2	g.73490259A>C	CA347268176	ALMS1	c.7919A>C (p.Lys2640Thr) c.1311A>C c.5371A>C c.2366A>C (p.Lys789Thr) c.8300A>C (p.Lys2767Thr) c.896-29516A>C c.3030+101A>C (n.3030+101A>C) c.8174A>C (p.Lys2725Thr) n.2103A>C c.8303A>C (p.Lys2768Thr)
2	g.73490259A>G	CA1714442	ALMS1	c.7919A>G (p.Lys2640Arg) c.1311A>G c.5371A>G c.2366A>G (p.Lys789Arg) c.8300A>G (p.Lys2767Arg) c.896-29516A>G c.3030+101A>G (n.3030+101A>G) c.8174A>G (p.Lys2725Arg) n.2103A>G c.8303A>G (p.Lys2768Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490259A>T	CA347268178	ALMS1	c.7919A>T (p.Lys2640Ile) c.1311A>T c.5371A>T c.2366A>T (p.Lys789Ile) c.8300A>T (p.Lys2767Ile) c.896-29516A>T c.3030+101A>T (n.3030+101A>T) c.8174A>T (p.Lys2725Ile) n.2103A>T c.8303A>T (p.Lys2768Ile)
2	g.73490260A>C	CA347268180	ALMS1	c.7920A>C (p.Lys2640Asn) c.1312A>C c.5372A>C c.2367A>C (p.Lys789Asn) c.8301A>C (p.Lys2767Asn) c.896-29515A>C c.3030+102A>C (n.3030+102A>C) c.8175A>C (p.Lys2725Asn) n.2104A>C c.8304A>C (p.Lys2768Asn)
2	g.73490260A>G	CA427001449	ALMS1	c.7920A>G (p.Lys2640=) c.1312A>G c.5372A>G c.2367A>G (p.Lys789=) c.8301A>G (p.Lys2767=) c.896-29515A>G c.3030+102A>G (n.3030+102A>G) c.8175A>G (p.Lys2725=) n.2104A>G c.8304A>G (p.Lys2768=)
2	g.73490260A>T	CA347268181	ALMS1	c.7920A>T (p.Lys2640Asn) c.1312A>T c.5372A>T c.2367A>T (p.Lys789Asn) c.8301A>T (p.Lys2767Asn) c.896-29515A>T c.3030+102A>T (n.3030+102A>T) c.8175A>T (p.Lys2725Asn) n.2104A>T c.8304A>T (p.Lys2768Asn)
2	g.73490261A>C	CA347268183	ALMS1	c.7921A>C (p.Thr2641Pro) c.1313A>C c.5373A>C c.2368A>C (p.Thr790Pro) c.8302A>C (p.Thr2768Pro) c.896-29514A>C c.3030+103A>C (n.3030+103A>C) c.8176A>C (p.Thr2726Pro) n.2105A>C c.8305A>C (p.Thr2769Pro)
2	g.73490261A>G	CA347268185	ALMS1	c.7921A>G (p.Thr2641Ala) c.1313A>G c.5373A>G c.2368A>G (p.Thr790Ala) c.8302A>G (p.Thr2768Ala) c.896-29514A>G c.3030+103A>G (n.3030+103A>G) c.8176A>G (p.Thr2726Ala) n.2105A>G c.8305A>G (p.Thr2769Ala)
2	g.73490261A>T	CA347268187	ALMS1	c.7921A>T (p.Thr2641Ser) c.1313A>T c.5373A>T c.2368A>T (p.Thr790Ser) c.8302A>T (p.Thr2768Ser) c.896-29514A>T c.3030+103A>T (n.3030+103A>T) c.8176A>T (p.Thr2726Ser) n.2105A>T c.8305A>T (p.Thr2769Ser)
2	g.73490262C>A	CA347268188	ALMS1	c.7922C>A (p.Thr2641Asn) c.1314C>A c.5374C>A c.2369C>A (p.Thr790Asn) c.8303C>A (p.Thr2768Asn) c.896-29513C>A c.3030+104C>A (n.3030+104C>A) c.8177C>A (p.Thr2726Asn) n.2106C>A c.8306C>A (p.Thr2769Asn)
2	g.73490262C>G	CA347268189	ALMS1	c.7922C>G (p.Thr2641Ser) c.1314C>G c.5374C>G c.2369C>G (p.Thr790Ser) c.8303C>G (p.Thr2768Ser) c.896-29513C>G c.3030+104C>G (n.3030+104C>G) c.8177C>G (p.Thr2726Ser) n.2106C>G c.8306C>G (p.Thr2769Ser)
2	g.73490262C>T	CA347268191	ALMS1	c.7922C>T (p.Thr2641Ile) c.1314C>T c.5374C>T c.2369C>T (p.Thr790Ile) c.8303C>T (p.Thr2768Ile) c.896-29513C>T c.3030+104C>T (n.3030+104C>T) c.8177C>T (p.Thr2726Ile) n.2106C>T c.8306C>T (p.Thr2769Ile)	gnomAD v4
2	g.73490263C>A	CA427001457	ALMS1	c.7923C>A (p.Thr2641=) c.1315C>A c.5375C>A c.2370C>A (p.Thr790=) c.8304C>A (p.Thr2768=) c.896-29512C>A c.3030+105C>A (n.3030+105C>A) c.8178C>A (p.Thr2726=) n.2107C>A c.8307C>A (p.Thr2769=)	ClinVar dbSNP gnomAD v4
2	g.73490263C>G	CA427001461	ALMS1	c.7923C>G (p.Thr2641=) c.1315C>G c.5375C>G c.2370C>G (p.Thr790=) c.8304C>G (p.Thr2768=) c.896-29512C>G c.3030+105C>G (n.3030+105C>G) c.8178C>G (p.Thr2726=) n.2107C>G c.8307C>G (p.Thr2769=)	ClinVar gnomAD v4
2	g.73490263C>T	CA427001459	ALMS1	c.7923C>T (p.Thr2641=) c.1315C>T c.5375C>T c.2370C>T (p.Thr790=) c.8304C>T (p.Thr2768=) c.896-29512C>T c.3030+105C>T (n.3030+105C>T) c.8178C>T (p.Thr2726=) n.2107C>T c.8307C>T (p.Thr2769=)
2	g.73490265_73490266del	CA2586969433	ALMS1	c.7925_7926del (p.Ser2642PhefsTer6) c.1317_1318del c.5377_5378del c.2372_2373del (p.Ser791PhefsTer6) c.8306_8307del (p.Ser2769PhefsTer6) c.896-29510_896-29509del c.3030+107_3030+108del (n.3030+107_3030+108del) c.8180_8181del (p.Ser2727PhefsTer6) n.2109_2110del c.8309_8310del (p.Ser2770PhefsTer6)
2	g.73490264T>A	CA347268194	ALMS1	c.7924T>A (p.Ser2642Thr) c.1316T>A c.5376T>A c.2371T>A (p.Ser791Thr) c.8305T>A (p.Ser2769Thr) c.896-29511T>A c.3030+106T>A (n.3030+106T>A) c.8179T>A (p.Ser2727Thr) n.2108T>A c.8308T>A (p.Ser2770Thr)
2	g.73490264T>C	CA347268193	ALMS1	c.7924T>C (p.Ser2642Pro) c.1316T>C c.5376T>C c.2371T>C (p.Ser791Pro) c.8305T>C (p.Ser2769Pro) c.896-29511T>C c.3030+106T>C (n.3030+106T>C) c.8179T>C (p.Ser2727Pro) n.2108T>C c.8308T>C (p.Ser2770Pro)
2	g.73490264T>G	CA347268192	ALMS1	c.7924T>G (p.Ser2642Ala) c.1316T>G c.5376T>G c.2371T>G (p.Ser791Ala) c.8305T>G (p.Ser2769Ala) c.896-29511T>G c.3030+106T>G (n.3030+106T>G) c.8179T>G (p.Ser2727Ala) n.2108T>G c.8308T>G (p.Ser2770Ala)
2	g.73490265C>A	CA347268196	ALMS1	c.7925C>A (p.Ser2642Tyr) c.1317C>A c.5377C>A c.2372C>A (p.Ser791Tyr) c.8306C>A (p.Ser2769Tyr) c.896-29510C>A c.3030+107C>A (n.3030+107C>A) c.8180C>A (p.Ser2727Tyr) n.2109C>A c.8309C>A (p.Ser2770Tyr)
2	g.73490265C=	CA1260981792	ALMS1	c.7925C= (p.Ser2642=) c.1317C= c.5377C= c.2372C= (p.Ser791=) c.8306C= (p.Ser2769=) c.896-29510C= c.3030+107C= (n.3030+107C=) c.8180C= (p.Ser2727=) n.2109C= c.8309C= (p.Ser2770=)
2	g.73490265C>G	CA347268197	ALMS1	c.7925C>G (p.Ser2642Cys) c.1317C>G c.5377C>G c.2372C>G (p.Ser791Cys) c.8306C>G (p.Ser2769Cys) c.896-29510C>G c.3030+107C>G (n.3030+107C>G) c.8180C>G (p.Ser2727Cys) n.2109C>G c.8309C>G (p.Ser2770Cys)
2	g.73490265C>T	CA16611111	ALMS1	c.7925C>T (p.Ser2642Phe) c.1317C>T c.5377C>T c.2372C>T (p.Ser791Phe) c.8306C>T (p.Ser2769Phe) c.896-29510C>T c.3030+107C>T (n.3030+107C>T) c.8180C>T (p.Ser2727Phe) n.2109C>T c.8309C>T (p.Ser2770Phe)	ClinVar dbSNP gnomAD v4
2	g.73490266T>A	CA427001468	ALMS1	c.7926T>A (p.Ser2642=) c.1318T>A c.5378T>A c.2373T>A (p.Ser791=) c.8307T>A (p.Ser2769=) c.896-29509T>A c.3030+108T>A (n.3030+108T>A) c.8181T>A (p.Ser2727=) n.2110T>A c.8310T>A (p.Ser2770=)
2	g.73490266T>C	CA427001467	ALMS1	c.7926T>C (p.Ser2642=) c.1318T>C c.5378T>C c.2373T>C (p.Ser791=) c.8307T>C (p.Ser2769=) c.896-29509T>C c.3030+108T>C (n.3030+108T>C) c.8181T>C (p.Ser2727=) n.2110T>C c.8310T>C (p.Ser2770=)
2	g.73490266T>G	CA427001465	ALMS1	c.7926T>G (p.Ser2642=) c.1318T>G c.5378T>G c.2373T>G (p.Ser791=) c.8307T>G (p.Ser2769=) c.896-29509T>G c.3030+108T>G (n.3030+108T>G) c.8181T>G (p.Ser2727=) n.2110T>G c.8310T>G (p.Ser2770=)
2	g.73490267T>A	CA347268198	ALMS1	c.7927T>A (p.Ser2643Thr) c.1319T>A c.5379T>A c.2374T>A (p.Ser792Thr) c.8308T>A (p.Ser2770Thr) c.896-29508T>A c.3030+109T>A (n.3030+109T>A) c.8182T>A (p.Ser2728Thr) n.2111T>A c.8311T>A (p.Ser2771Thr)
2	g.73490267T>C	CA347268200	ALMS1	c.7927T>C (p.Ser2643Pro) c.1319T>C c.5379T>C c.2374T>C (p.Ser792Pro) c.8308T>C (p.Ser2770Pro) c.896-29508T>C c.3030+109T>C (n.3030+109T>C) c.8182T>C (p.Ser2728Pro) n.2111T>C c.8311T>C (p.Ser2771Pro)
2	g.73490267T>G	CA347268202	ALMS1	c.7927T>G (p.Ser2643Ala) c.1319T>G c.5379T>G c.2374T>G (p.Ser792Ala) c.8308T>G (p.Ser2770Ala) c.896-29508T>G c.3030+109T>G (n.3030+109T>G) c.8182T>G (p.Ser2728Ala) n.2111T>G c.8311T>G (p.Ser2771Ala)
2	g.73490268C>A	CA1714443	ALMS1	c.7928C>A (p.Ser2643Tyr) c.1320C>A c.5380C>A c.2375C>A (p.Ser792Tyr) c.8309C>A (p.Ser2770Tyr) c.896-29507C>A c.3030+110C>A (n.3030+110C>A) c.8183C>A (p.Ser2728Tyr) n.2112C>A c.8312C>A (p.Ser2771Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490268C=	CA1260981798	ALMS1	c.7928C= (p.Ser2643=) c.1320C= c.5380C= c.2375C= (p.Ser792=) c.8309C= (p.Ser2770=) c.896-29507C= c.3030+110C= (n.3030+110C=) c.8183C= (p.Ser2728=) n.2112C= c.8312C= (p.Ser2771=)
2	g.73490268C>G	CA50378408	ALMS1	c.7928C>G (p.Ser2643Cys) c.1320C>G c.5380C>G c.2375C>G (p.Ser792Cys) c.8309C>G (p.Ser2770Cys) c.896-29507C>G c.3030+110C>G (n.3030+110C>G) c.8183C>G (p.Ser2728Cys) n.2112C>G c.8312C>G (p.Ser2771Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490268C>T	CA347268206	ALMS1	c.7928C>T (p.Ser2643Phe) c.1320C>T c.5380C>T c.2375C>T (p.Ser792Phe) c.8309C>T (p.Ser2770Phe) c.896-29507C>T c.3030+110C>T (n.3030+110C>T) c.8183C>T (p.Ser2728Phe) n.2112C>T c.8312C>T (p.Ser2771Phe)	dbSNP
2	g.73490271del	CA2586969434	ALMS1	c.7931del (p.Pro2644LeufsTer15) c.1323del c.5383del c.2378del (p.Pro793LeufsTer15) c.8312del (p.Pro2771LeufsTer15) c.896-29504del c.3030+113del (n.3030+113del) c.8186del (p.Pro2729LeufsTer15) n.2115del c.8315del (p.Pro2772LeufsTer15)
2	g.73490269C>A	CA427001480	ALMS1	c.7929C>A (p.Ser2643=) c.1321C>A c.5381C>A c.2376C>A (p.Ser792=) c.8310C>A (p.Ser2770=) c.896-29506C>A c.3030+111C>A (n.3030+111C>A) c.8184C>A (p.Ser2728=) n.2113C>A c.8313C>A (p.Ser2771=)
2	g.73490269C>G	CA427001477	ALMS1	c.7929C>G (p.Ser2643=) c.1321C>G c.5381C>G c.2376C>G (p.Ser792=) c.8310C>G (p.Ser2770=) c.896-29506C>G c.3030+111C>G (n.3030+111C>G) c.8184C>G (p.Ser2728=) n.2113C>G c.8313C>G (p.Ser2771=)
2	g.73490269C>T	CA427001479	ALMS1	c.7929C>T (p.Ser2643=) c.1321C>T c.5381C>T c.2376C>T (p.Ser792=) c.8310C>T (p.Ser2770=) c.896-29506C>T c.3030+111C>T (n.3030+111C>T) c.8184C>T (p.Ser2728=) n.2113C>T c.8313C>T (p.Ser2771=)	ClinVar dbSNP
2	g.73490270C>A	CA347268207	ALMS1	c.7930C>A (p.Pro2644Thr) c.1322C>A c.5382C>A c.2377C>A (p.Pro793Thr) c.8311C>A (p.Pro2771Thr) c.896-29505C>A c.3030+112C>A (n.3030+112C>A) c.8185C>A (p.Pro2729Thr) n.2114C>A c.8314C>A (p.Pro2772Thr)	ClinVar dbSNP gnomAD v4
2	g.73490270C=	CA1260981802	ALMS1	c.7930C= (p.Pro2644=) c.1322C= c.5382C= c.2377C= (p.Pro793=) c.8311C= (p.Pro2771=) c.896-29505C= c.3030+112C= (n.3030+112C=) c.8185C= (p.Pro2729=) n.2114C= c.8314C= (p.Pro2772=)
2	g.73490270C>G	CA347268209	ALMS1	c.7930C>G (p.Pro2644Ala) c.1322C>G c.5382C>G c.2377C>G (p.Pro793Ala) c.8311C>G (p.Pro2771Ala) c.896-29505C>G c.3030+112C>G (n.3030+112C>G) c.8185C>G (p.Pro2729Ala) n.2114C>G c.8314C>G (p.Pro2772Ala)
2	g.73490270C>T	CA347268210	ALMS1	c.7930C>T (p.Pro2644Ser) c.1322C>T c.5382C>T c.2377C>T (p.Pro793Ser) c.8311C>T (p.Pro2771Ser) c.896-29505C>T c.3030+112C>T (n.3030+112C>T) c.8185C>T (p.Pro2729Ser) n.2114C>T c.8314C>T (p.Pro2772Ser)	dbSNP
2	g.73490271C>A	CA347268215	ALMS1	c.7931C>A (p.Pro2644His) c.1323C>A c.5383C>A c.2378C>A (p.Pro793His) c.8312C>A (p.Pro2771His) c.896-29504C>A c.3030+113C>A (n.3030+113C>A) c.8186C>A (p.Pro2729His) n.2115C>A c.8315C>A (p.Pro2772His)
2	g.73490271C>G	CA347268213	ALMS1	c.7931C>G (p.Pro2644Arg) c.1323C>G c.5383C>G c.2378C>G (p.Pro793Arg) c.8312C>G (p.Pro2771Arg) c.896-29504C>G c.3030+113C>G (n.3030+113C>G) c.8186C>G (p.Pro2729Arg) n.2115C>G c.8315C>G (p.Pro2772Arg)
2	g.73490271C>T	CA347268211	ALMS1	c.7931C>T (p.Pro2644Leu) c.1323C>T c.5383C>T c.2378C>T (p.Pro793Leu) c.8312C>T (p.Pro2771Leu) c.896-29504C>T c.3030+113C>T (n.3030+113C>T) c.8186C>T (p.Pro2729Leu) n.2115C>T c.8315C>T (p.Pro2772Leu)
2	g.73490272T>A	CA427001488	ALMS1	c.7932T>A (p.Pro2644=) c.1324T>A c.5384T>A c.2379T>A (p.Pro793=) c.8313T>A (p.Pro2771=) c.896-29503T>A c.3030+114T>A (n.3030+114T>A) c.8187T>A (p.Pro2729=) n.2116T>A c.8316T>A (p.Pro2772=)
2	g.73490272T>C	CA427001490	ALMS1	c.7932T>C (p.Pro2644=) c.1324T>C c.5384T>C c.2379T>C (p.Pro793=) c.8313T>C (p.Pro2771=) c.896-29503T>C c.3030+114T>C (n.3030+114T>C) c.8187T>C (p.Pro2729=) n.2116T>C c.8316T>C (p.Pro2772=)	dbSNP gnomAD v2 gnomAD v4
2	g.73490272T>G	CA427001492	ALMS1	c.7932T>G (p.Pro2644=) c.1324T>G c.5384T>G c.2379T>G (p.Pro793=) c.8313T>G (p.Pro2771=) c.896-29503T>G c.3030+114T>G (n.3030+114T>G) c.8187T>G (p.Pro2729=) n.2116T>G c.8316T>G (p.Pro2772=)
2	g.73490272T=	CA1260981808	ALMS1	c.7932T= (p.Pro2644=) c.1324T= c.5384T= c.2379T= (p.Pro793=) c.8313T= (p.Pro2771=) c.896-29503T= c.3030+114T= (n.3030+114T=) c.8187T= (p.Pro2729=) n.2116T= c.8316T= (p.Pro2772=)
2	g.73490272_73490275delinsTTCA	CA1260981806	ALMS1	c.7932_7935delinsTTCA (p.Pro2644=) c.1324_1327delinsTTCA c.5384_5387delinsTTCA c.2379_2382delinsTTCA (p.Pro793=) c.8313_8316delinsTTCA (p.Pro2771=) c.896-29503_896-29500delinsTTCA c.3030+114_3030+117delinsTTCA (n.3030+114_3030+117delinsTTCA) c.8187_8190delinsTTCA (p.Pro2729=) n.2116_2119delinsTTCA c.8316_8319delinsTTCA (p.Pro2772=)
2	g.73490273_73490276del	CA913090807	ALMS1	c.7933_7936del (p.Ser2645HisfsTer13) c.1325_1328del c.5385_5388del c.2380_2383del (p.Ser794HisfsTer13) c.8314_8317del (p.Ser2772HisfsTer13) c.896-29502_896-29499del c.3030+115_3030+118del (n.3030+115_3030+118del) c.8188_8191del (p.Ser2730HisfsTer13) n.2117_2120del c.8317_8320del (p.Ser2773HisfsTer13)
2	g.73490273T>A	CA347268217	ALMS1	c.7933T>A (p.Ser2645Thr) c.1325T>A c.5385T>A c.2380T>A (p.Ser794Thr) c.8314T>A (p.Ser2772Thr) c.896-29502T>A c.3030+115T>A (n.3030+115T>A) c.8188T>A (p.Ser2730Thr) n.2117T>A c.8317T>A (p.Ser2773Thr)
2	g.73490273T>C	CA347268218	ALMS1	c.7933T>C (p.Ser2645Pro) c.1325T>C c.5385T>C c.2380T>C (p.Ser794Pro) c.8314T>C (p.Ser2772Pro) c.896-29502T>C c.3030+115T>C (n.3030+115T>C) c.8188T>C (p.Ser2730Pro) n.2117T>C c.8317T>C (p.Ser2773Pro)
2	g.73490273T>G	CA347268221	ALMS1	c.7933T>G (p.Ser2645Ala) c.1325T>G c.5385T>G c.2380T>G (p.Ser794Ala) c.8314T>G (p.Ser2772Ala) c.896-29502T>G c.3030+115T>G (n.3030+115T>G) c.8188T>G (p.Ser2730Ala) n.2117T>G c.8317T>G (p.Ser2773Ala)
2	g.73490277_73490279del	CA1714444	ALMS1	c.7937_7939del (p.Ser2646del) c.1329_1331del c.5389_5391del c.2384_2386del (p.Ser795del) c.8318_8320del (p.Ser2773del) c.896-29498_896-29496del c.3030+119_3030+121del (n.3030+119_3030+121del) c.8192_8194del (p.Ser2731del) n.2121_2123del c.8321_8323del (p.Ser2774del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490274C>A	CA347268222	ALMS1	c.7934C>A (p.Ser2645Ter) c.1326C>A c.5386C>A c.2381C>A (p.Ser794Ter) c.8315C>A (p.Ser2772Ter) c.896-29501C>A c.3030+116C>A (n.3030+116C>A) c.8189C>A (p.Ser2730Ter) n.2118C>A c.8318C>A (p.Ser2773Ter)
2	g.73490274C>G	CA347268223	ALMS1	c.7934C>G (p.Ser2645Ter) c.1326C>G c.5386C>G c.2381C>G (p.Ser794Ter) c.8315C>G (p.Ser2772Ter) c.896-29501C>G c.3030+116C>G (n.3030+116C>G) c.8189C>G (p.Ser2730Ter) n.2118C>G c.8318C>G (p.Ser2773Ter)
2	g.73490274C>T	CA347268224	ALMS1	c.7934C>T (p.Ser2645Leu) c.1326C>T c.5386C>T c.2381C>T (p.Ser794Leu) c.8315C>T (p.Ser2772Leu) c.896-29501C>T c.3030+116C>T (n.3030+116C>T) c.8189C>T (p.Ser2730Leu) n.2118C>T c.8318C>T (p.Ser2773Leu)	gnomAD v4
2	g.73490275A=	CA1260981809	ALMS1	c.7935A= (p.Ser2645=) c.1327A= c.5387A= c.2382A= (p.Ser794=) c.8316A= (p.Ser2772=) c.896-29500A= c.3030+117A= (n.3030+117A=) c.8190A= (p.Ser2730=) n.2119A= c.8319A= (p.Ser2773=)
2	g.73490275A>C	CA50378422	ALMS1	c.7935A>C (p.Ser2645=) c.1327A>C c.5387A>C c.2382A>C (p.Ser794=) c.8316A>C (p.Ser2772=) c.896-29500A>C c.3030+117A>C (n.3030+117A>C) c.8190A>C (p.Ser2730=) n.2119A>C c.8319A>C (p.Ser2773=)	dbSNP gnomAD v4
2	g.73490275A>G	CA427001502	ALMS1	c.7935A>G (p.Ser2645=) c.1327A>G c.5387A>G c.2382A>G (p.Ser794=) c.8316A>G (p.Ser2772=) c.896-29500A>G c.3030+117A>G (n.3030+117A>G) c.8190A>G (p.Ser2730=) n.2119A>G c.8319A>G (p.Ser2773=)	ClinVar
2	g.73490275A>T	CA1714445	ALMS1	c.7935A>T (p.Ser2645=) c.1327A>T c.5387A>T c.2382A>T (p.Ser794=) c.8316A>T (p.Ser2772=) c.896-29500A>T c.3030+117A>T (n.3030+117A>T) c.8190A>T (p.Ser2730=) n.2119A>T c.8319A>T (p.Ser2773=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490276T>A	CA347268226	ALMS1	c.7936T>A (p.Ser2646Thr) c.1328T>A c.5388T>A c.2383T>A (p.Ser795Thr) c.8317T>A (p.Ser2773Thr) c.896-29499T>A c.3030+118T>A (n.3030+118T>A) c.8191T>A (p.Ser2731Thr) n.2120T>A c.8320T>A (p.Ser2774Thr)
2	g.73490276T>C	CA347268228	ALMS1	c.7936T>C (p.Ser2646Pro) c.1328T>C c.5388T>C c.2383T>C (p.Ser795Pro) c.8317T>C (p.Ser2773Pro) c.896-29499T>C c.3030+118T>C (n.3030+118T>C) c.8191T>C (p.Ser2731Pro) n.2120T>C c.8320T>C (p.Ser2774Pro)
2	g.73490276T>G	CA347268229	ALMS1	c.7936T>G (p.Ser2646Ala) c.1328T>G c.5388T>G c.2383T>G (p.Ser795Ala) c.8317T>G (p.Ser2773Ala) c.896-29499T>G c.3030+118T>G (n.3030+118T>G) c.8191T>G (p.Ser2731Ala) n.2120T>G c.8320T>G (p.Ser2774Ala)
2	g.73490277C>A	CA347268231	ALMS1	c.7937C>A (p.Ser2646Ter) c.1329C>A c.5389C>A c.2384C>A (p.Ser795Ter) c.8318C>A (p.Ser2773Ter) c.896-29498C>A c.3030+119C>A (n.3030+119C>A) c.8192C>A (p.Ser2731Ter) n.2121C>A c.8321C>A (p.Ser2774Ter)
2	g.73490277C>G	CA347268233	ALMS1	c.7937C>G (p.Ser2646Ter) c.1329C>G c.5389C>G c.2384C>G (p.Ser795Ter) c.8318C>G (p.Ser2773Ter) c.896-29498C>G c.3030+119C>G (n.3030+119C>G) c.8192C>G (p.Ser2731Ter) n.2121C>G c.8321C>G (p.Ser2774Ter)
2	g.73490277C>T	CA347268234	ALMS1	c.7937C>T (p.Ser2646Leu) c.1329C>T c.5389C>T c.2384C>T (p.Ser795Leu) c.8318C>T (p.Ser2773Leu) c.896-29498C>T c.3030+119C>T (n.3030+119C>T) c.8192C>T (p.Ser2731Leu) n.2121C>T c.8321C>T (p.Ser2774Leu)

Number of alleles fetched