Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73489989A=	CA1260981245	ALMS1	c.7649A= (p.Asp2550=) c.1041A= c.5101A= c.2096A= (p.Asp699=) c.8030A= (p.Asp2677=) c.896-29786A= c.2861A= (p.Asp954=) c.7904A= (p.Asp2635=) n.1833A= c.8033A= (p.Asp2678=)
2	g.73489989A>C	CA50377881	ALMS1	c.7649A>C (p.Asp2550Ala) c.1041A>C c.5101A>C c.2096A>C (p.Asp699Ala) c.8030A>C (p.Asp2677Ala) c.896-29786A>C c.2861A>C (p.Asp954Ala) c.7904A>C (p.Asp2635Ala) n.1833A>C c.8033A>C (p.Asp2678Ala)	dbSNP
2	g.73489989A>G	CA347267029	ALMS1	c.7649A>G (p.Asp2550Gly) c.1041A>G c.5101A>G c.2096A>G (p.Asp699Gly) c.8030A>G (p.Asp2677Gly) c.896-29786A>G c.2861A>G (p.Asp954Gly) c.7904A>G (p.Asp2635Gly) n.1833A>G c.8033A>G (p.Asp2678Gly)
2	g.73489989A>T	CA347267022	ALMS1	c.7649A>T (p.Asp2550Val) c.1041A>T c.5101A>T c.2096A>T (p.Asp699Val) c.8030A>T (p.Asp2677Val) c.896-29786A>T c.2861A>T (p.Asp954Val) c.7904A>T (p.Asp2635Val) n.1833A>T c.8033A>T (p.Asp2678Val)
2	g.73489990C>A	CA1714393	ALMS1	c.7650C>A (p.Asp2550Glu) c.1042C>A c.5102C>A c.2097C>A (p.Asp699Glu) c.8031C>A (p.Asp2677Glu) c.896-29785C>A c.2862C>A (p.Asp954Glu) c.7905C>A (p.Asp2635Glu) n.1834C>A c.8034C>A (p.Asp2678Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489990C=	CA1260981246	ALMS1	c.7650C= (p.Asp2550=) c.1042C= c.5102C= c.2097C= (p.Asp699=) c.8031C= (p.Asp2677=) c.896-29785C= c.2862C= (p.Asp954=) c.7905C= (p.Asp2635=) n.1834C= c.8034C= (p.Asp2678=)
2	g.73489990C>G	CA347267032	ALMS1	c.7650C>G (p.Asp2550Glu) c.1042C>G c.5102C>G c.2097C>G (p.Asp699Glu) c.8031C>G (p.Asp2677Glu) c.896-29785C>G c.2862C>G (p.Asp954Glu) c.7905C>G (p.Asp2635Glu) n.1834C>G c.8034C>G (p.Asp2678Glu)
2	g.73489990C>T	CA427000743	ALMS1	c.7650C>T (p.Asp2550=) c.1042C>T c.5102C>T c.2097C>T (p.Asp699=) c.8031C>T (p.Asp2677=) c.896-29785C>T c.2862C>T (p.Asp954=) c.7905C>T (p.Asp2635=) n.1834C>T c.8034C>T (p.Asp2678=)	ClinVar dbSNP gnomAD v4
2	g.73489991C>A	CA347267037	ALMS1	c.7651C>A (p.Pro2551Thr) c.1043C>A c.5103C>A c.2098C>A (p.Pro700Thr) c.8032C>A (p.Pro2678Thr) c.896-29784C>A c.2863C>A (p.Pro955Thr) c.7906C>A (p.Pro2636Thr) n.1835C>A c.8035C>A (p.Pro2679Thr)
2	g.73489991C>G	CA347267039	ALMS1	c.7651C>G (p.Pro2551Ala) c.1043C>G c.5103C>G c.2098C>G (p.Pro700Ala) c.8032C>G (p.Pro2678Ala) c.896-29784C>G c.2863C>G (p.Pro955Ala) c.7906C>G (p.Pro2636Ala) n.1835C>G c.8035C>G (p.Pro2679Ala)
2	g.73489991C>T	CA347267041	ALMS1	c.7651C>T (p.Pro2551Ser) c.1043C>T c.5103C>T c.2098C>T (p.Pro700Ser) c.8032C>T (p.Pro2678Ser) c.896-29784C>T c.2863C>T (p.Pro955Ser) c.7906C>T (p.Pro2636Ser) n.1835C>T c.8035C>T (p.Pro2679Ser)	gnomAD v4
2	g.73489992C>A	CA347267049	ALMS1	c.7652C>A (p.Pro2551His) c.1044C>A c.5104C>A c.2099C>A (p.Pro700His) c.8033C>A (p.Pro2678His) c.896-29783C>A c.2864C>A (p.Pro955His) c.7907C>A (p.Pro2636His) n.1836C>A c.8036C>A (p.Pro2679His)
2	g.73489992C>G	CA347267047	ALMS1	c.7652C>G (p.Pro2551Arg) c.1044C>G c.5104C>G c.2099C>G (p.Pro700Arg) c.8033C>G (p.Pro2678Arg) c.896-29783C>G c.2864C>G (p.Pro955Arg) c.7907C>G (p.Pro2636Arg) n.1836C>G c.8036C>G (p.Pro2679Arg)
2	g.73489992C>T	CA347267045	ALMS1	c.7652C>T (p.Pro2551Leu) c.1044C>T c.5104C>T c.2099C>T (p.Pro700Leu) c.8033C>T (p.Pro2678Leu) c.896-29783C>T c.2864C>T (p.Pro955Leu) c.7907C>T (p.Pro2636Leu) n.1836C>T c.8036C>T (p.Pro2679Leu)
2	g.73489993T>A	CA427000744	ALMS1	c.7653T>A (p.Pro2551=) c.1045T>A c.5105T>A c.2100T>A (p.Pro700=) c.8034T>A (p.Pro2678=) c.896-29782T>A c.2865T>A (p.Pro955=) c.7908T>A (p.Pro2636=) n.1837T>A c.8037T>A (p.Pro2679=)
2	g.73489993T>C	CA427000745	ALMS1	c.7653T>C (p.Pro2551=) c.1045T>C c.5105T>C c.2100T>C (p.Pro700=) c.8034T>C (p.Pro2678=) c.896-29782T>C c.2865T>C (p.Pro955=) c.7908T>C (p.Pro2636=) n.1837T>C c.8037T>C (p.Pro2679=)
2	g.73489993T>G	CA427000746	ALMS1	c.7653T>G (p.Pro2551=) c.1045T>G c.5105T>G c.2100T>G (p.Pro700=) c.8034T>G (p.Pro2678=) c.896-29782T>G c.2865T>G (p.Pro955=) c.7908T>G (p.Pro2636=) n.1837T>G c.8037T>G (p.Pro2679=)
2	g.73489994T>A	CA347267053	ALMS1	c.7654T>A (p.Trp2552Arg) c.1046T>A c.5106T>A c.2101T>A (p.Trp701Arg) c.8035T>A (p.Trp2679Arg) c.896-29781T>A c.2866T>A (p.Trp956Arg) c.7909T>A (p.Trp2637Arg) n.1838T>A c.8038T>A (p.Trp2680Arg)
2	g.73489994T>C	CA347267054	ALMS1	c.7654T>C (p.Trp2552Arg) c.1046T>C c.5106T>C c.2101T>C (p.Trp701Arg) c.8035T>C (p.Trp2679Arg) c.896-29781T>C c.2866T>C (p.Trp956Arg) c.7909T>C (p.Trp2637Arg) n.1838T>C c.8038T>C (p.Trp2680Arg)
2	g.73489994T>G	CA347267057	ALMS1	c.7654T>G (p.Trp2552Gly) c.1046T>G c.5106T>G c.2101T>G (p.Trp701Gly) c.8035T>G (p.Trp2679Gly) c.896-29781T>G c.2866T>G (p.Trp956Gly) c.7909T>G (p.Trp2637Gly) n.1838T>G c.8038T>G (p.Trp2680Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73489994T=	CA1260981247	ALMS1	c.7654T= (p.Trp2552=) c.1046T= c.5106T= c.2101T= (p.Trp701=) c.8035T= (p.Trp2679=) c.896-29781T= c.2866T= (p.Trp956=) c.7909T= (p.Trp2637=) n.1838T= c.8038T= (p.Trp2680=)
2	g.73489995G>A	CA347267059	ALMS1	c.7655G>A (p.Trp2552Ter) c.1047G>A c.5107G>A c.2102G>A (p.Trp701Ter) c.8036G>A (p.Trp2679Ter) c.896-29780G>A c.2867G>A (p.Trp956Ter) c.7910G>A (p.Trp2637Ter) n.1839G>A c.8039G>A (p.Trp2680Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.73489995G>C	CA347267061	ALMS1	c.7655G>C (p.Trp2552Ser) c.1047G>C c.5107G>C c.2102G>C (p.Trp701Ser) c.8036G>C (p.Trp2679Ser) c.896-29780G>C c.2867G>C (p.Trp956Ser) c.7910G>C (p.Trp2637Ser) n.1839G>C c.8039G>C (p.Trp2680Ser)
2	g.73489995G=	CA1260981249	ALMS1	c.7655G= (p.Trp2552=) c.1047G= c.5107G= c.2102G= (p.Trp701=) c.8036G= (p.Trp2679=) c.896-29780G= c.2867G= (p.Trp956=) c.7910G= (p.Trp2637=) n.1839G= c.8039G= (p.Trp2680=)
2	g.73489995G>T	CA347267064	ALMS1	c.7655G>T (p.Trp2552Leu) c.1047G>T c.5107G>T c.2102G>T (p.Trp701Leu) c.8036G>T (p.Trp2679Leu) c.896-29780G>T c.2867G>T (p.Trp956Leu) c.7910G>T (p.Trp2637Leu) n.1839G>T c.8039G>T (p.Trp2680Leu)
2	g.73489996G>A	CA347267073	ALMS1	c.7656G>A (p.Trp2552Ter) c.1048G>A c.5108G>A c.2103G>A (p.Trp701Ter) c.8037G>A (p.Trp2679Ter) c.896-29779G>A c.2868G>A (p.Trp956Ter) c.7911G>A (p.Trp2637Ter) n.1840G>A c.8040G>A (p.Trp2680Ter)	gnomAD v4
2	g.73489996G>C	CA347267067	ALMS1	c.7656G>C (p.Trp2552Cys) c.1048G>C c.5108G>C c.2103G>C (p.Trp701Cys) c.8037G>C (p.Trp2679Cys) c.896-29779G>C c.2868G>C (p.Trp956Cys) c.7911G>C (p.Trp2637Cys) n.1840G>C c.8040G>C (p.Trp2680Cys)
2	g.73489996G>T	CA347267071	ALMS1	c.7656G>T (p.Trp2552Cys) c.1048G>T c.5108G>T c.2103G>T (p.Trp701Cys) c.8037G>T (p.Trp2679Cys) c.896-29779G>T c.2868G>T (p.Trp956Cys) c.7911G>T (p.Trp2637Cys) n.1840G>T c.8040G>T (p.Trp2680Cys)
2	g.73489997C>A	CA50377901	ALMS1	c.7657C>A (p.Leu2553Met) c.1049C>A c.5109C>A c.2104C>A (p.Leu702Met) c.8038C>A (p.Leu2680Met) c.896-29778C>A c.2869C>A (p.Leu957Met) c.7912C>A (p.Leu2638Met) n.1841C>A c.8041C>A (p.Leu2681Met)	dbSNP gnomAD v4
2	g.73489997C=	CA1260981250	ALMS1	c.7657C= (p.Leu2553=) c.1049C= c.5109C= c.2104C= (p.Leu702=) c.8038C= (p.Leu2680=) c.896-29778C= c.2869C= (p.Leu957=) c.7912C= (p.Leu2638=) n.1841C= c.8041C= (p.Leu2681=)
2	g.73489997C>G	CA347267077	ALMS1	c.7657C>G (p.Leu2553Val) c.1049C>G c.5109C>G c.2104C>G (p.Leu702Val) c.8038C>G (p.Leu2680Val) c.896-29778C>G c.2869C>G (p.Leu957Val) c.7912C>G (p.Leu2638Val) n.1841C>G c.8041C>G (p.Leu2681Val)
2	g.73489997C>T	CA50377909	ALMS1	c.7657C>T (p.Leu2553=) c.1049C>T c.5109C>T c.2104C>T (p.Leu702=) c.8038C>T (p.Leu2680=) c.896-29778C>T c.2869C>T (p.Leu957=) c.7912C>T (p.Leu2638=) n.1841C>T c.8041C>T (p.Leu2681=)	dbSNP
2	g.73489998T>A	CA347267083	ALMS1	c.7658T>A (p.Leu2553Gln) c.1050T>A c.5110T>A c.2105T>A (p.Leu702Gln) c.8039T>A (p.Leu2680Gln) c.896-29777T>A c.2870T>A (p.Leu957Gln) c.7913T>A (p.Leu2638Gln) n.1842T>A c.8042T>A (p.Leu2681Gln)
2	g.73489998T>C	CA347267085	ALMS1	c.7658T>C (p.Leu2553Pro) c.1050T>C c.5110T>C c.2105T>C (p.Leu702Pro) c.8039T>C (p.Leu2680Pro) c.896-29777T>C c.2870T>C (p.Leu957Pro) c.7913T>C (p.Leu2638Pro) n.1842T>C c.8042T>C (p.Leu2681Pro)
2	g.73489998T>G	CA347267088	ALMS1	c.7658T>G (p.Leu2553Arg) c.1050T>G c.5110T>G c.2105T>G (p.Leu702Arg) c.8039T>G (p.Leu2680Arg) c.896-29777T>G c.2870T>G (p.Leu957Arg) c.7913T>G (p.Leu2638Arg) n.1842T>G c.8042T>G (p.Leu2681Arg)
2	g.73489999G>A	CA427000747	ALMS1	c.7659G>A (p.Leu2553=) c.1051G>A c.5111G>A c.2106G>A (p.Leu702=) c.8040G>A (p.Leu2680=) c.896-29776G>A c.2871G>A (p.Leu957=) c.7914G>A (p.Leu2638=) n.1843G>A c.8043G>A (p.Leu2681=)
2	g.73489999G>C	CA427000748	ALMS1	c.7659G>C (p.Leu2553=) c.1051G>C c.5111G>C c.2106G>C (p.Leu702=) c.8040G>C (p.Leu2680=) c.896-29776G>C c.2871G>C (p.Leu957=) c.7914G>C (p.Leu2638=) n.1843G>C c.8043G>C (p.Leu2681=)
2	g.73489999G=	CA1260981253	ALMS1	c.7659G= (p.Leu2553=) c.1051G= c.5111G= c.2106G= (p.Leu702=) c.8040G= (p.Leu2680=) c.896-29776G= c.2871G= (p.Leu957=) c.7914G= (p.Leu2638=) n.1843G= c.8043G= (p.Leu2681=)
2	g.73489999G>T	CA1714394	ALMS1	c.7659G>T (p.Leu2553=) c.1051G>T c.5111G>T c.2106G>T (p.Leu702=) c.8040G>T (p.Leu2680=) c.896-29776G>T c.2871G>T (p.Leu957=) c.7914G>T (p.Leu2638=) n.1843G>T c.8043G>T (p.Leu2681=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490000T>A	CA347267092	ALMS1	c.7660T>A (p.Ser2554Thr) c.1052T>A c.5112T>A c.2107T>A (p.Ser703Thr) c.8041T>A (p.Ser2681Thr) c.896-29775T>A c.2872T>A (p.Ser958Thr) c.7915T>A (p.Ser2639Thr) n.1844T>A c.8044T>A (p.Ser2682Thr)
2	g.73490000T>C	CA347267095	ALMS1	c.7660T>C (p.Ser2554Pro) c.1052T>C c.5112T>C c.2107T>C (p.Ser703Pro) c.8041T>C (p.Ser2681Pro) c.896-29775T>C c.2872T>C (p.Ser958Pro) c.7915T>C (p.Ser2639Pro) n.1844T>C c.8044T>C (p.Ser2682Pro)
2	g.73490000T>G	CA347267097	ALMS1	c.7660T>G (p.Ser2554Ala) c.1052T>G c.5112T>G c.2107T>G (p.Ser703Ala) c.8041T>G (p.Ser2681Ala) c.896-29775T>G c.2872T>G (p.Ser958Ala) c.7915T>G (p.Ser2639Ala) n.1844T>G c.8044T>G (p.Ser2682Ala)
2	g.73490000_73490001insATTAGAATTAG	CA2573135757	ALMS1	c.7660_7661insATTAGAATTAG (p.Ser2554TyrfsTer2) c.1052_1053insATTAGAATTAG c.5112_5113insATTAGAATTAG c.2107_2108insATTAGAATTAG (p.Ser703TyrfsTer2) c.8041_8042insATTAGAATTAG (p.Ser2681TyrfsTer2) c.896-29775_896-29774insATTAGAATTAG c.2872_2873insATTAGAATTAG (p.Ser958TyrfsTer2) c.7915_7916insATTAGAATTAG (p.Ser2639TyrfsTer2) n.1844_1845insATTAGAATTAG c.8044_8045insATTAGAATTAG (p.Ser2682TyrfsTer2)	dbSNP
2	g.73490001C>A	CA347267101	ALMS1	c.7661C>A (p.Ser2554Ter) c.1053C>A c.5113C>A c.2108C>A (p.Ser703Ter) c.8042C>A (p.Ser2681Ter) c.896-29774C>A c.2873C>A (p.Ser958Ter) c.7916C>A (p.Ser2639Ter) n.1845C>A c.8045C>A (p.Ser2682Ter)
2	g.73490001C>G	CA347267103	ALMS1	c.7661C>G (p.Ser2554Ter) c.1053C>G c.5113C>G c.2108C>G (p.Ser703Ter) c.8042C>G (p.Ser2681Ter) c.896-29774C>G c.2873C>G (p.Ser958Ter) c.7916C>G (p.Ser2639Ter) n.1845C>G c.8045C>G (p.Ser2682Ter)	ClinVar gnomAD v4
2	g.73490001C>T	CA347267105	ALMS1	c.7661C>T (p.Ser2554Leu) c.1053C>T c.5113C>T c.2108C>T (p.Ser703Leu) c.8042C>T (p.Ser2681Leu) c.896-29774C>T c.2873C>T (p.Ser958Leu) c.7916C>T (p.Ser2639Leu) n.1845C>T c.8045C>T (p.Ser2682Leu)
2	g.73490001_73490002delinsCA	CA1260981255	ALMS1	c.7661_7662delinsCA (p.Ser2554=) c.1053_1054delinsCA c.5113_5114delinsCA c.2108_2109delinsCA (p.Ser703=) c.8042_8043delinsCA (p.Ser2681=) c.896-29774_896-29773delinsCA c.2873_2874delinsCA (p.Ser958=) c.7916_7917delinsCA (p.Ser2639=) n.1845_1846delinsCA c.8045_8046delinsCA (p.Ser2682=)
2	g.73490002del	CA1260981259	ALMS1	c.7662del (p.Glu2555AsnfsTer2) c.1054del c.5114del c.2109del (p.Glu704AsnfsTer2) c.8043del (p.Glu2682AsnfsTer2) c.896-29773del c.2874del (p.Glu959AsnfsTer2) c.7917del (p.Glu2640AsnfsTer2) n.1846del c.8046del (p.Glu2683AsnfsTer2)	dbSNP
2	g.73490002A=	CA1260981260	ALMS1	c.7662A= (p.Ser2554=) c.1054A= c.5114A= c.2109A= (p.Ser703=) c.8043A= (p.Ser2681=) c.896-29773A= c.2874A= (p.Ser958=) c.7917A= (p.Ser2639=) n.1846A= c.8046A= (p.Ser2682=)
2	g.73490002A>C	CA427000749	ALMS1	c.7662A>C (p.Ser2554=) c.1054A>C c.5114A>C c.2109A>C (p.Ser703=) c.8043A>C (p.Ser2681=) c.896-29773A>C c.2874A>C (p.Ser958=) c.7917A>C (p.Ser2639=) n.1846A>C c.8046A>C (p.Ser2682=)
2	g.73490002A>G	CA427000750	ALMS1	c.7662A>G (p.Ser2554=) c.1054A>G c.5114A>G c.2109A>G (p.Ser703=) c.8043A>G (p.Ser2681=) c.896-29773A>G c.2874A>G (p.Ser958=) c.7917A>G (p.Ser2639=) n.1846A>G c.8046A>G (p.Ser2682=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490002A>T	CA427000751	ALMS1	c.7662A>T (p.Ser2554=) c.1054A>T c.5114A>T c.2109A>T (p.Ser703=) c.8043A>T (p.Ser2681=) c.896-29773A>T c.2874A>T (p.Ser958=) c.7917A>T (p.Ser2639=) n.1846A>T c.8046A>T (p.Ser2682=)
2	g.73490003G>A	CA347267108	ALMS1	c.7663G>A (p.Glu2555Lys) c.1055G>A c.5115G>A c.2110G>A (p.Glu704Lys) c.8044G>A (p.Glu2682Lys) c.896-29772G>A c.2875G>A (p.Glu959Lys) c.7918G>A (p.Glu2640Lys) n.1847G>A c.8047G>A (p.Glu2683Lys)
2	g.73490003G>C	CA50377918	ALMS1	c.7663G>C (p.Glu2555Gln) c.1055G>C c.5115G>C c.2110G>C (p.Glu704Gln) c.8044G>C (p.Glu2682Gln) c.896-29772G>C c.2875G>C (p.Glu959Gln) c.7918G>C (p.Glu2640Gln) n.1847G>C c.8047G>C (p.Glu2683Gln)	ClinVar dbSNP gnomAD v4
2	g.73490003G=	CA1260981265	ALMS1	c.7663G= (p.Glu2555=) c.1055G= c.5115G= c.2110G= (p.Glu704=) c.8044G= (p.Glu2682=) c.896-29772G= c.2875G= (p.Glu959=) c.7918G= (p.Glu2640=) n.1847G= c.8047G= (p.Glu2683=)
2	g.73490003G>T	CA1714395	ALMS1	c.7663G>T (p.Glu2555Ter) c.1055G>T c.5115G>T c.2110G>T (p.Glu704Ter) c.8044G>T (p.Glu2682Ter) c.896-29772G>T c.2875G>T (p.Glu959Ter) c.7918G>T (p.Glu2640Ter) n.1847G>T c.8047G>T (p.Glu2683Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490004A>C	CA347267113	ALMS1	c.7664A>C (p.Glu2555Ala) c.1056A>C c.5116A>C c.2111A>C (p.Glu704Ala) c.8045A>C (p.Glu2682Ala) c.896-29771A>C c.2876A>C (p.Glu959Ala) c.7919A>C (p.Glu2640Ala) n.1848A>C c.8048A>C (p.Glu2683Ala)
2	g.73490004A>G	CA347267117	ALMS1	c.7664A>G (p.Glu2555Gly) c.1056A>G c.5116A>G c.2111A>G (p.Glu704Gly) c.8045A>G (p.Glu2682Gly) c.896-29771A>G c.2876A>G (p.Glu959Gly) c.7919A>G (p.Glu2640Gly) n.1848A>G c.8048A>G (p.Glu2683Gly)
2	g.73490004A>T	CA347267118	ALMS1	c.7664A>T (p.Glu2555Val) c.1056A>T c.5116A>T c.2111A>T (p.Glu704Val) c.8045A>T (p.Glu2682Val) c.896-29771A>T c.2876A>T (p.Glu959Val) c.7919A>T (p.Glu2640Val) n.1848A>T c.8048A>T (p.Glu2683Val)
2	g.73490005A>C	CA347267120	ALMS1	c.7665A>C (p.Glu2555Asp) c.1057A>C c.5117A>C c.2112A>C (p.Glu704Asp) c.8046A>C (p.Glu2682Asp) c.896-29770A>C c.2877A>C (p.Glu959Asp) c.7920A>C (p.Glu2640Asp) n.1849A>C c.8049A>C (p.Glu2683Asp)
2	g.73490005A>G	CA427000752	ALMS1	c.7665A>G (p.Glu2555=) c.1057A>G c.5117A>G c.2112A>G (p.Glu704=) c.8046A>G (p.Glu2682=) c.896-29770A>G c.2877A>G (p.Glu959=) c.7920A>G (p.Glu2640=) n.1849A>G c.8049A>G (p.Glu2683=)	gnomAD v4
2	g.73490005A>T	CA347267121	ALMS1	c.7665A>T (p.Glu2555Asp) c.1057A>T c.5117A>T c.2112A>T (p.Glu704Asp) c.8046A>T (p.Glu2682Asp) c.896-29770A>T c.2877A>T (p.Glu959Asp) c.7920A>T (p.Glu2640Asp) n.1849A>T c.8049A>T (p.Glu2683Asp)
2	g.73490006_73490013dup	CA2577005007	ALMS1	c.7666_7673dup (p.Glu2558AspfsTer2) c.1058_1065dup c.5118_5125dup c.2113_2120dup (p.Glu707AspfsTer2) c.8047_8054dup (p.Glu2685AspfsTer2) c.896-29769_896-29762dup c.2878_2885dup (p.Glu962AspfsTer2) c.7921_7928dup (p.Glu2643AspfsTer2) n.1850_1857dup c.8050_8057dup (p.Glu2686AspfsTer2)
2	g.73490006T>A	CA50377928	ALMS1	c.7666T>A (p.Leu2556Ile) c.1058T>A c.5118T>A c.2113T>A (p.Leu705Ile) c.8047T>A (p.Leu2683Ile) c.896-29769T>A c.2878T>A (p.Leu960Ile) c.7921T>A (p.Leu2641Ile) n.1850T>A c.8050T>A (p.Leu2684Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.73490006T>C	CA427000753	ALMS1	c.7666T>C (p.Leu2556=) c.1058T>C c.5118T>C c.2113T>C (p.Leu705=) c.8047T>C (p.Leu2683=) c.896-29769T>C c.2878T>C (p.Leu960=) c.7921T>C (p.Leu2641=) n.1850T>C c.8050T>C (p.Leu2684=)
2	g.73490006T>G	CA347267126	ALMS1	c.7666T>G (p.Leu2556Val) c.1058T>G c.5118T>G c.2113T>G (p.Leu705Val) c.8047T>G (p.Leu2683Val) c.896-29769T>G c.2878T>G (p.Leu960Val) c.7921T>G (p.Leu2641Val) n.1850T>G c.8050T>G (p.Leu2684Val)
2	g.73490006T=	CA1260981272	ALMS1	c.7666T= (p.Leu2556=) c.1058T= c.5118T= c.2113T= (p.Leu705=) c.8047T= (p.Leu2683=) c.896-29769T= c.2878T= (p.Leu960=) c.7921T= (p.Leu2641=) n.1850T= c.8050T= (p.Leu2684=)
2	g.73490007T>A	CA347267129	ALMS1	c.7667T>A (p.Leu2556Ter) c.1059T>A c.5119T>A c.2114T>A (p.Leu705Ter) c.8048T>A (p.Leu2683Ter) c.896-29768T>A c.2879T>A (p.Leu960Ter) c.7922T>A (p.Leu2641Ter) n.1851T>A c.8051T>A (p.Leu2684Ter)
2	g.73490007T>C	CA347267130	ALMS1	c.7667T>C (p.Leu2556Ser) c.1059T>C c.5119T>C c.2114T>C (p.Leu705Ser) c.8048T>C (p.Leu2683Ser) c.896-29768T>C c.2879T>C (p.Leu960Ser) c.7922T>C (p.Leu2641Ser) n.1851T>C c.8051T>C (p.Leu2684Ser)
2	g.73490007T>G	CA347267134	ALMS1	c.7667T>G (p.Leu2556Ter) c.1059T>G c.5119T>G c.2114T>G (p.Leu705Ter) c.8048T>G (p.Leu2683Ter) c.896-29768T>G c.2879T>G (p.Leu960Ter) c.7922T>G (p.Leu2641Ter) n.1851T>G c.8051T>G (p.Leu2684Ter)
2	g.73490008A=	CA1260981275	ALMS1	c.7668A= (p.Leu2556=) c.1060A= c.5120A= c.2115A= (p.Leu705=) c.8049A= (p.Leu2683=) c.896-29767A= c.2880A= (p.Leu960=) c.7923A= (p.Leu2641=) n.1852A= c.8052A= (p.Leu2684=)
2	g.73490008A>C	CA347267137	ALMS1	c.7668A>C (p.Leu2556Phe) c.1060A>C c.5120A>C c.2115A>C (p.Leu705Phe) c.8049A>C (p.Leu2683Phe) c.896-29767A>C c.2880A>C (p.Leu960Phe) c.7923A>C (p.Leu2641Phe) n.1852A>C c.8052A>C (p.Leu2684Phe)	gnomAD v4
2	g.73490008A>G	CA427000754	ALMS1	c.7668A>G (p.Leu2556=) c.1060A>G c.5120A>G c.2115A>G (p.Leu705=) c.8049A>G (p.Leu2683=) c.896-29767A>G c.2880A>G (p.Leu960=) c.7923A>G (p.Leu2641=) n.1852A>G c.8052A>G (p.Leu2684=)	dbSNP
2	g.73490008A>T	CA347267139	ALMS1	c.7668A>T (p.Leu2556Phe) c.1060A>T c.5120A>T c.2115A>T (p.Leu705Phe) c.8049A>T (p.Leu2683Phe) c.896-29767A>T c.2880A>T (p.Leu960Phe) c.7923A>T (p.Leu2641Phe) n.1852A>T c.8052A>T (p.Leu2684Phe)
2	g.73490009G>A	CA347267146	ALMS1	c.7669G>A (p.Val2557Ile) c.1061G>A c.5121G>A c.2116G>A (p.Val706Ile) c.8050G>A (p.Val2684Ile) c.896-29766G>A c.2881G>A (p.Val961Ile) c.7924G>A (p.Val2642Ile) n.1853G>A c.8053G>A (p.Val2685Ile)	dbSNP
2	g.73490009G>C	CA347267142	ALMS1	c.7669G>C (p.Val2557Leu) c.1061G>C c.5121G>C c.2116G>C (p.Val706Leu) c.8050G>C (p.Val2684Leu) c.896-29766G>C c.2881G>C (p.Val961Leu) c.7924G>C (p.Val2642Leu) n.1853G>C c.8053G>C (p.Val2685Leu)
2	g.73490009G=	CA1260981278	ALMS1	c.7669G= (p.Val2557=) c.1061G= c.5121G= c.2116G= (p.Val706=) c.8050G= (p.Val2684=) c.896-29766G= c.2881G= (p.Val961=) c.7924G= (p.Val2642=) n.1853G= c.8053G= (p.Val2685=)
2	g.73490009G>T	CA347267143	ALMS1	c.7669G>T (p.Val2557Leu) c.1061G>T c.5121G>T c.2116G>T (p.Val706Leu) c.8050G>T (p.Val2684Leu) c.896-29766G>T c.2881G>T (p.Val961Leu) c.7924G>T (p.Val2642Leu) n.1853G>T c.8053G>T (p.Val2685Leu)
2	g.73490010T>A	CA347267148	ALMS1	c.7670T>A (p.Val2557Glu) c.1062T>A c.5122T>A c.2117T>A (p.Val706Glu) c.8051T>A (p.Val2684Glu) c.896-29765T>A c.2882T>A (p.Val961Glu) c.7925T>A (p.Val2642Glu) n.1854T>A c.8054T>A (p.Val2685Glu)
2	g.73490010T>C	CA347267150	ALMS1	c.7670T>C (p.Val2557Ala) c.1062T>C c.5122T>C c.2117T>C (p.Val706Ala) c.8051T>C (p.Val2684Ala) c.896-29765T>C c.2882T>C (p.Val961Ala) c.7925T>C (p.Val2642Ala) n.1854T>C c.8054T>C (p.Val2685Ala)
2	g.73490010T>G	CA347267154	ALMS1	c.7670T>G (p.Val2557Gly) c.1062T>G c.5122T>G c.2117T>G (p.Val706Gly) c.8051T>G (p.Val2684Gly) c.896-29765T>G c.2882T>G (p.Val961Gly) c.7925T>G (p.Val2642Gly) n.1854T>G c.8054T>G (p.Val2685Gly)
2	g.73490011A>C	CA427000755	ALMS1	c.7671A>C (p.Val2557=) c.1063A>C c.5123A>C c.2118A>C (p.Val706=) c.8052A>C (p.Val2684=) c.896-29764A>C c.2883A>C (p.Val961=) c.7926A>C (p.Val2642=) n.1855A>C c.8055A>C (p.Val2685=)
2	g.73490011A>G	CA427000756	ALMS1	c.7671A>G (p.Val2557=) c.1063A>G c.5123A>G c.2118A>G (p.Val706=) c.8052A>G (p.Val2684=) c.896-29764A>G c.2883A>G (p.Val961=) c.7926A>G (p.Val2642=) n.1855A>G c.8055A>G (p.Val2685=)	ClinVar dbSNP gnomAD v4
2	g.73490011A>T	CA427000757	ALMS1	c.7671A>T (p.Val2557=) c.1063A>T c.5123A>T c.2118A>T (p.Val706=) c.8052A>T (p.Val2684=) c.896-29764A>T c.2883A>T (p.Val961=) c.7926A>T (p.Val2642=) n.1855A>T c.8055A>T (p.Val2685=)
2	g.73490012G>A	CA347267157	ALMS1	c.7672G>A (p.Glu2558Lys) c.1064G>A c.5124G>A c.2119G>A (p.Glu707Lys) c.8053G>A (p.Glu2685Lys) c.896-29763G>A c.2884G>A (p.Glu962Lys) c.7927G>A (p.Glu2643Lys) n.1856G>A c.8056G>A (p.Glu2686Lys)	gnomAD v4
2	g.73490012G>C	CA347267159	ALMS1	c.7672G>C (p.Glu2558Gln) c.1064G>C c.5124G>C c.2119G>C (p.Glu707Gln) c.8053G>C (p.Glu2685Gln) c.896-29763G>C c.2884G>C (p.Glu962Gln) c.7927G>C (p.Glu2643Gln) n.1856G>C c.8056G>C (p.Glu2686Gln)
2	g.73490012G>T	CA347267162	ALMS1	c.7672G>T (p.Glu2558Ter) c.1064G>T c.5124G>T c.2119G>T (p.Glu707Ter) c.8053G>T (p.Glu2685Ter) c.896-29763G>T c.2884G>T (p.Glu962Ter) c.7927G>T (p.Glu2643Ter) n.1856G>T c.8056G>T (p.Glu2686Ter)
2	g.73490013A>C	CA347267165	ALMS1	c.7673A>C (p.Glu2558Ala) c.1065A>C c.5125A>C c.2120A>C (p.Glu707Ala) c.8054A>C (p.Glu2685Ala) c.896-29762A>C c.2885A>C (p.Glu962Ala) c.7928A>C (p.Glu2643Ala) n.1857A>C c.8057A>C (p.Glu2686Ala)
2	g.73490013A>G	CA347267169	ALMS1	c.7673A>G (p.Glu2558Gly) c.1065A>G c.5125A>G c.2120A>G (p.Glu707Gly) c.8054A>G (p.Glu2685Gly) c.896-29762A>G c.2885A>G (p.Glu962Gly) c.7928A>G (p.Glu2643Gly) n.1857A>G c.8057A>G (p.Glu2686Gly)
2	g.73490013A>T	CA347267171	ALMS1	c.7673A>T (p.Glu2558Val) c.1065A>T c.5125A>T c.2120A>T (p.Glu707Val) c.8054A>T (p.Glu2685Val) c.896-29762A>T c.2885A>T (p.Glu962Val) c.7928A>T (p.Glu2643Val) n.1857A>T c.8057A>T (p.Glu2686Val)
2	g.73490014A>C	CA347267174	ALMS1	c.7674A>C (p.Glu2558Asp) c.1066A>C c.5126A>C c.2121A>C (p.Glu707Asp) c.8055A>C (p.Glu2685Asp) c.896-29761A>C c.2886A>C (p.Glu962Asp) c.7929A>C (p.Glu2643Asp) n.1858A>C c.8058A>C (p.Glu2686Asp)
2	g.73490014A>G	CA427000758	ALMS1	c.7674A>G (p.Glu2558=) c.1066A>G c.5126A>G c.2121A>G (p.Glu707=) c.8055A>G (p.Glu2685=) c.896-29761A>G c.2886A>G (p.Glu962=) c.7929A>G (p.Glu2643=) n.1858A>G c.8058A>G (p.Glu2686=)
2	g.73490014A>T	CA347267176	ALMS1	c.7674A>T (p.Glu2558Asp) c.1066A>T c.5126A>T c.2121A>T (p.Glu707Asp) c.8055A>T (p.Glu2685Asp) c.896-29761A>T c.2886A>T (p.Glu962Asp) c.7929A>T (p.Glu2643Asp) n.1858A>T c.8058A>T (p.Glu2686Asp)	gnomAD v4
2	g.73490015C>A	CA347267178	ALMS1	c.7675C>A (p.Pro2559Thr) c.1067C>A c.5127C>A c.2122C>A (p.Pro708Thr) c.8056C>A (p.Pro2686Thr) c.896-29760C>A c.2887C>A (p.Pro963Thr) c.7930C>A (p.Pro2644Thr) n.1859C>A c.8059C>A (p.Pro2687Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.73490015C=	CA1260981281	ALMS1	c.7675C= (p.Pro2559=) c.1067C= c.5127C= c.2122C= (p.Pro708=) c.8056C= (p.Pro2686=) c.896-29760C= c.2887C= (p.Pro963=) c.7930C= (p.Pro2644=) n.1859C= c.8059C= (p.Pro2687=)
2	g.73490015C>G	CA347267183	ALMS1	c.7675C>G (p.Pro2559Ala) c.1067C>G c.5127C>G c.2122C>G (p.Pro708Ala) c.8056C>G (p.Pro2686Ala) c.896-29760C>G c.2887C>G (p.Pro963Ala) c.7930C>G (p.Pro2644Ala) n.1859C>G c.8059C>G (p.Pro2687Ala)	dbSNP
2	g.73490015C>T	CA347267181	ALMS1	c.7675C>T (p.Pro2559Ser) c.1067C>T c.5127C>T c.2122C>T (p.Pro708Ser) c.8056C>T (p.Pro2686Ser) c.896-29760C>T c.2887C>T (p.Pro963Ser) c.7930C>T (p.Pro2644Ser) n.1859C>T c.8059C>T (p.Pro2687Ser)	gnomAD v4
2	g.73490016C>A	CA347267186	ALMS1	c.7676C>A (p.Pro2559His) c.1068C>A c.5128C>A c.2123C>A (p.Pro708His) c.8057C>A (p.Pro2686His) c.896-29759C>A c.2888C>A (p.Pro963His) c.7931C>A (p.Pro2644His) n.1860C>A c.8060C>A (p.Pro2687His)
2	g.73490016C=	CA1260981284	ALMS1	c.7676C= (p.Pro2559=) c.1068C= c.5128C= c.2123C= (p.Pro708=) c.8057C= (p.Pro2686=) c.896-29759C= c.2888C= (p.Pro963=) c.7931C= (p.Pro2644=) n.1860C= c.8060C= (p.Pro2687=)
2	g.73490016C>G	CA347267191	ALMS1	c.7676C>G (p.Pro2559Arg) c.1068C>G c.5128C>G c.2123C>G (p.Pro708Arg) c.8057C>G (p.Pro2686Arg) c.896-29759C>G c.2888C>G (p.Pro963Arg) c.7931C>G (p.Pro2644Arg) n.1860C>G c.8060C>G (p.Pro2687Arg)
2	g.73490016C>T	CA347267187	ALMS1	c.7676C>T (p.Pro2559Leu) c.1068C>T c.5128C>T c.2123C>T (p.Pro708Leu) c.8057C>T (p.Pro2686Leu) c.896-29759C>T c.2888C>T (p.Pro963Leu) c.7931C>T (p.Pro2644Leu) n.1860C>T c.8060C>T (p.Pro2687Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490017T>A	CA427000759	ALMS1	c.7677T>A (p.Pro2559=) c.1069T>A c.5129T>A c.2124T>A (p.Pro708=) c.8058T>A (p.Pro2686=) c.896-29758T>A c.2889T>A (p.Pro963=) c.7932T>A (p.Pro2644=) n.1861T>A c.8061T>A (p.Pro2687=)
2	g.73490017T>C	CA427000760	ALMS1	c.7677T>C (p.Pro2559=) c.1069T>C c.5129T>C c.2124T>C (p.Pro708=) c.8058T>C (p.Pro2686=) c.896-29758T>C c.2889T>C (p.Pro963=) c.7932T>C (p.Pro2644=) n.1861T>C c.8061T>C (p.Pro2687=)
2	g.73490017T>G	CA427000761	ALMS1	c.7677T>G (p.Pro2559=) c.1069T>G c.5129T>G c.2124T>G (p.Pro708=) c.8058T>G (p.Pro2686=) c.896-29758T>G c.2889T>G (p.Pro963=) c.7932T>G (p.Pro2644=) n.1861T>G c.8061T>G (p.Pro2687=)
2	g.73490018G>A	CA50377934	ALMS1	c.7678G>A (p.Ala2560Thr) c.1070G>A c.5130G>A c.2125G>A (p.Ala709Thr) c.8059G>A (p.Ala2687Thr) c.896-29757G>A c.2890G>A (p.Ala964Thr) c.7933G>A (p.Ala2645Thr) n.1862G>A c.8062G>A (p.Ala2688Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.73490018G>C	CA347267195	ALMS1	c.7678G>C (p.Ala2560Pro) c.1070G>C c.5130G>C c.2125G>C (p.Ala709Pro) c.8059G>C (p.Ala2687Pro) c.896-29757G>C c.2890G>C (p.Ala964Pro) c.7933G>C (p.Ala2645Pro) n.1862G>C c.8062G>C (p.Ala2688Pro)
2	g.73490018G=	CA1260981287	ALMS1	c.7678G= (p.Ala2560=) c.1070G= c.5130G= c.2125G= (p.Ala709=) c.8059G= (p.Ala2687=) c.896-29757G= c.2890G= (p.Ala964=) c.7933G= (p.Ala2645=) n.1862G= c.8062G= (p.Ala2688=)
2	g.73490018G>T	CA347267197	ALMS1	c.7678G>T (p.Ala2560Ser) c.1070G>T c.5130G>T c.2125G>T (p.Ala709Ser) c.8059G>T (p.Ala2687Ser) c.896-29757G>T c.2890G>T (p.Ala964Ser) c.7933G>T (p.Ala2645Ser) n.1862G>T c.8062G>T (p.Ala2688Ser)	gnomAD v4
2	g.73490019C>A	CA347267201	ALMS1	c.7679C>A (p.Ala2560Asp) c.1071C>A c.5131C>A c.2126C>A (p.Ala709Asp) c.8060C>A (p.Ala2687Asp) c.896-29756C>A c.2891C>A (p.Ala964Asp) c.7934C>A (p.Ala2645Asp) n.1863C>A c.8063C>A (p.Ala2688Asp)
2	g.73490019C>G	CA347267207	ALMS1	c.7679C>G (p.Ala2560Gly) c.1071C>G c.5131C>G c.2126C>G (p.Ala709Gly) c.8060C>G (p.Ala2687Gly) c.896-29756C>G c.2891C>G (p.Ala964Gly) c.7934C>G (p.Ala2645Gly) n.1863C>G c.8063C>G (p.Ala2688Gly)
2	g.73490019C>T	CA347267209	ALMS1	c.7679C>T (p.Ala2560Val) c.1071C>T c.5131C>T c.2126C>T (p.Ala709Val) c.8060C>T (p.Ala2687Val) c.896-29756C>T c.2891C>T (p.Ala964Val) c.7934C>T (p.Ala2645Val) n.1863C>T c.8063C>T (p.Ala2688Val)	gnomAD v4
2	g.73490020T>A	CA427000762	ALMS1	c.7680T>A (p.Ala2560=) c.1072T>A c.5132T>A c.2127T>A (p.Ala709=) c.8061T>A (p.Ala2687=) c.896-29755T>A c.2892T>A (p.Ala964=) c.7935T>A (p.Ala2645=) n.1864T>A c.8064T>A (p.Ala2688=)	ClinVar
2	g.73490020T>C	CA427000763	ALMS1	c.7680T>C (p.Ala2560=) c.1072T>C c.5132T>C c.2127T>C (p.Ala709=) c.8061T>C (p.Ala2687=) c.896-29755T>C c.2892T>C (p.Ala964=) c.7935T>C (p.Ala2645=) n.1864T>C c.8064T>C (p.Ala2688=)
2	g.73490020T>G	CA427000764	ALMS1	c.7680T>G (p.Ala2560=) c.1072T>G c.5132T>G c.2127T>G (p.Ala709=) c.8061T>G (p.Ala2687=) c.896-29755T>G c.2892T>G (p.Ala964=) c.7935T>G (p.Ala2645=) n.1864T>G c.8064T>G (p.Ala2688=)
2	g.73490021T>A	CA347267226	ALMS1	c.7681T>A (p.Phe2561Ile) c.1073T>A c.5133T>A c.2128T>A (p.Phe710Ile) c.8062T>A (p.Phe2688Ile) c.896-29754T>A c.2893T>A (p.Phe965Ile) c.7936T>A (p.Phe2646Ile) n.1865T>A c.8065T>A (p.Phe2689Ile)
2	g.73490021T>C	CA347267215	ALMS1	c.7681T>C (p.Phe2561Leu) c.1073T>C c.5133T>C c.2128T>C (p.Phe710Leu) c.8062T>C (p.Phe2688Leu) c.896-29754T>C c.2893T>C (p.Phe965Leu) c.7936T>C (p.Phe2646Leu) n.1865T>C c.8065T>C (p.Phe2689Leu)
2	g.73490021T>G	CA347267223	ALMS1	c.7681T>G (p.Phe2561Val) c.1073T>G c.5133T>G c.2128T>G (p.Phe710Val) c.8062T>G (p.Phe2688Val) c.896-29754T>G c.2893T>G (p.Phe965Val) c.7936T>G (p.Phe2646Val) n.1865T>G c.8065T>G (p.Phe2689Val)
2	g.73490022T>A	CA347267229	ALMS1	c.7682T>A (p.Phe2561Tyr) c.1074T>A c.5134T>A c.2129T>A (p.Phe710Tyr) c.8063T>A (p.Phe2688Tyr) c.896-29753T>A c.2894T>A (p.Phe965Tyr) c.7937T>A (p.Phe2646Tyr) n.1866T>A c.8066T>A (p.Phe2689Tyr)
2	g.73490022T>C	CA347267233	ALMS1	c.7682T>C (p.Phe2561Ser) c.1074T>C c.5134T>C c.2129T>C (p.Phe710Ser) c.8063T>C (p.Phe2688Ser) c.896-29753T>C c.2894T>C (p.Phe965Ser) c.7937T>C (p.Phe2646Ser) n.1866T>C c.8066T>C (p.Phe2689Ser)	gnomAD v4
2	g.73490022T>G	CA347267238	ALMS1	c.7682T>G (p.Phe2561Cys) c.1074T>G c.5134T>G c.2129T>G (p.Phe710Cys) c.8063T>G (p.Phe2688Cys) c.896-29753T>G c.2894T>G (p.Phe965Cys) c.7937T>G (p.Phe2646Cys) n.1866T>G c.8066T>G (p.Phe2689Cys)
2	g.73490023T>A	CA347267242	ALMS1	c.7683T>A (p.Phe2561Leu) c.1075T>A c.5135T>A c.2130T>A (p.Phe710Leu) c.8064T>A (p.Phe2688Leu) c.896-29752T>A c.2895T>A (p.Phe965Leu) c.7938T>A (p.Phe2646Leu) n.1867T>A c.8067T>A (p.Phe2689Leu)
2	g.73490023T>C	CA427000765	ALMS1	c.7683T>C (p.Phe2561=) c.1075T>C c.5135T>C c.2130T>C (p.Phe710=) c.8064T>C (p.Phe2688=) c.896-29752T>C c.2895T>C (p.Phe965=) c.7938T>C (p.Phe2646=) n.1867T>C c.8067T>C (p.Phe2689=)
2	g.73490023T>G	CA347267243	ALMS1	c.7683T>G (p.Phe2561Leu) c.1075T>G c.5135T>G c.2130T>G (p.Phe710Leu) c.8064T>G (p.Phe2688Leu) c.896-29752T>G c.2895T>G (p.Phe965Leu) c.7938T>G (p.Phe2646Leu) n.1867T>G c.8067T>G (p.Phe2689Leu)
2	g.73490024G>A	CA347267251	ALMS1	c.7684G>A (p.Val2562Met) c.1076G>A c.5136G>A c.2131G>A (p.Val711Met) c.8065G>A (p.Val2689Met) c.896-29751G>A c.2896G>A (p.Val966Met) c.7939G>A (p.Val2647Met) n.1868G>A c.8068G>A (p.Val2690Met)	dbSNP gnomAD v4
2	g.73490024G>C	CA347267247	ALMS1	c.7684G>C (p.Val2562Leu) c.1076G>C c.5136G>C c.2131G>C (p.Val711Leu) c.8065G>C (p.Val2689Leu) c.896-29751G>C c.2896G>C (p.Val966Leu) c.7939G>C (p.Val2647Leu) n.1868G>C c.8068G>C (p.Val2690Leu)
2	g.73490024G=	CA1260981291	ALMS1	c.7684G= (p.Val2562=) c.1076G= c.5136G= c.2131G= (p.Val711=) c.8065G= (p.Val2689=) c.896-29751G= c.2896G= (p.Val966=) c.7939G= (p.Val2647=) n.1868G= c.8068G= (p.Val2690=)
2	g.73490024G>T	CA347267249	ALMS1	c.7684G>T (p.Val2562Leu) c.1076G>T c.5136G>T c.2131G>T (p.Val711Leu) c.8065G>T (p.Val2689Leu) c.896-29751G>T c.2896G>T (p.Val966Leu) c.7939G>T (p.Val2647Leu) n.1868G>T c.8068G>T (p.Val2690Leu)	dbSNP
2	g.73490025T>A	CA347267259	ALMS1	c.7685T>A (p.Val2562Glu) c.1077T>A c.5137T>A c.2132T>A (p.Val711Glu) c.8066T>A (p.Val2689Glu) c.896-29750T>A c.2897T>A (p.Val966Glu) c.7940T>A (p.Val2647Glu) n.1869T>A c.8069T>A (p.Val2690Glu)
2	g.73490025T>C	CA347267263	ALMS1	c.7685T>C (p.Val2562Ala) c.1077T>C c.5137T>C c.2132T>C (p.Val711Ala) c.8066T>C (p.Val2689Ala) c.896-29750T>C c.2897T>C (p.Val966Ala) c.7940T>C (p.Val2647Ala) n.1869T>C c.8069T>C (p.Val2690Ala)	gnomAD v4
2	g.73490025T>G	CA347267265	ALMS1	c.7685T>G (p.Val2562Gly) c.1077T>G c.5137T>G c.2132T>G (p.Val711Gly) c.8066T>G (p.Val2689Gly) c.896-29750T>G c.2897T>G (p.Val966Gly) c.7940T>G (p.Val2647Gly) n.1869T>G c.8069T>G (p.Val2690Gly)
2	g.73490026G>A	CA427000766	ALMS1	c.7686G>A (p.Val2562=) c.1078G>A c.5138G>A c.2133G>A (p.Val711=) c.8067G>A (p.Val2689=) c.896-29749G>A c.2898G>A (p.Val966=) c.7941G>A (p.Val2647=) n.1870G>A c.8070G>A (p.Val2690=)
2	g.73490026G>C	CA427000767	ALMS1	c.7686G>C (p.Val2562=) c.1078G>C c.5138G>C c.2133G>C (p.Val711=) c.8067G>C (p.Val2689=) c.896-29749G>C c.2898G>C (p.Val966=) c.7941G>C (p.Val2647=) n.1870G>C c.8070G>C (p.Val2690=)
2	g.73490026G>T	CA427000768	ALMS1	c.7686G>T (p.Val2562=) c.1078G>T c.5138G>T c.2133G>T (p.Val711=) c.8067G>T (p.Val2689=) c.896-29749G>T c.2898G>T (p.Val966=) c.7941G>T (p.Val2647=) n.1870G>T c.8070G>T (p.Val2690=)
2	g.73490027C>A	CA347267267	ALMS1	c.7687C>A (p.Pro2563Thr) c.1079C>A c.5139C>A c.2134C>A (p.Pro712Thr) c.8068C>A (p.Pro2690Thr) c.896-29748C>A c.2899C>A (p.Pro967Thr) c.7942C>A (p.Pro2648Thr) n.1871C>A c.8071C>A (p.Pro2691Thr)
2	g.73490027C=	CA1260981296	ALMS1	c.7687C= (p.Pro2563=) c.1079C= c.5139C= c.2134C= (p.Pro712=) c.8068C= (p.Pro2690=) c.896-29748C= c.2899C= (p.Pro967=) c.7942C= (p.Pro2648=) n.1871C= c.8071C= (p.Pro2691=)
2	g.73490027C>G	CA347267269	ALMS1	c.7687C>G (p.Pro2563Ala) c.1079C>G c.5139C>G c.2134C>G (p.Pro712Ala) c.8068C>G (p.Pro2690Ala) c.896-29748C>G c.2899C>G (p.Pro967Ala) c.7942C>G (p.Pro2648Ala) n.1871C>G c.8071C>G (p.Pro2691Ala)	ClinVar
2	g.73490027C>T	CA50377959	ALMS1	c.7687C>T (p.Pro2563Ser) c.1079C>T c.5139C>T c.2134C>T (p.Pro712Ser) c.8068C>T (p.Pro2690Ser) c.896-29748C>T c.2899C>T (p.Pro967Ser) c.7942C>T (p.Pro2648Ser) n.1871C>T c.8071C>T (p.Pro2691Ser)	dbSNP gnomAD v4
2	g.73490028C>A	CA347267273	ALMS1	c.7688C>A (p.Pro2563Gln) c.1080C>A c.5140C>A c.2135C>A (p.Pro712Gln) c.8069C>A (p.Pro2690Gln) c.896-29747C>A c.2900C>A (p.Pro967Gln) c.7943C>A (p.Pro2648Gln) n.1872C>A c.8072C>A (p.Pro2691Gln)
2	g.73490028C=	CA1260981300	ALMS1	c.7688C= (p.Pro2563=) c.1080C= c.5140C= c.2135C= (p.Pro712=) c.8069C= (p.Pro2690=) c.896-29747C= c.2900C= (p.Pro967=) c.7943C= (p.Pro2648=) n.1872C= c.8072C= (p.Pro2691=)
2	g.73490028C>G	CA347267277	ALMS1	c.7688C>G (p.Pro2563Arg) c.1080C>G c.5140C>G c.2135C>G (p.Pro712Arg) c.8069C>G (p.Pro2690Arg) c.896-29747C>G c.2900C>G (p.Pro967Arg) c.7943C>G (p.Pro2648Arg) n.1872C>G c.8072C>G (p.Pro2691Arg)
2	g.73490028C>T	CA347267279	ALMS1	c.7688C>T (p.Pro2563Leu) c.1080C>T c.5140C>T c.2135C>T (p.Pro712Leu) c.8069C>T (p.Pro2690Leu) c.896-29747C>T c.2900C>T (p.Pro967Leu) c.7943C>T (p.Pro2648Leu) n.1872C>T c.8072C>T (p.Pro2691Leu)
2	g.73490029A>C	CA427000769	ALMS1	c.7689A>C (p.Pro2563=) c.1081A>C c.5141A>C c.2136A>C (p.Pro712=) c.8070A>C (p.Pro2690=) c.896-29746A>C c.2901A>C (p.Pro967=) c.7944A>C (p.Pro2648=) n.1873A>C c.8073A>C (p.Pro2691=)
2	g.73490029A>G	CA427000770	ALMS1	c.7689A>G (p.Pro2563=) c.1081A>G c.5141A>G c.2136A>G (p.Pro712=) c.8070A>G (p.Pro2690=) c.896-29746A>G c.2901A>G (p.Pro967=) c.7944A>G (p.Pro2648=) n.1873A>G c.8073A>G (p.Pro2691=)	ClinVar gnomAD v4
2	g.73490029A>T	CA427000771	ALMS1	c.7689A>T (p.Pro2563=) c.1081A>T c.5141A>T c.2136A>T (p.Pro712=) c.8070A>T (p.Pro2690=) c.896-29746A>T c.2901A>T (p.Pro967=) c.7944A>T (p.Pro2648=) n.1873A>T c.8073A>T (p.Pro2691=)	gnomAD v4
2	g.73490029dup	CA1260981302	ALMS1	c.7689dup (p.Pro2564ThrfsTer2) c.1081dup c.5141dup c.2136dup (p.Pro713ThrfsTer2) c.8070dup (p.Pro2691ThrfsTer2) c.896-29746dup c.2901dup (p.Pro968ThrfsTer2) c.7944dup (p.Pro2649ThrfsTer2) n.1873dup c.8073dup (p.Pro2692ThrfsTer2)	dbSNP
2	g.73490030C>A	CA347267284	ALMS1	c.7690C>A (p.Pro2564Thr) c.1082C>A c.5142C>A c.2137C>A (p.Pro713Thr) c.8071C>A (p.Pro2691Thr) c.896-29745C>A c.2902C>A (p.Pro968Thr) c.7945C>A (p.Pro2649Thr) n.1874C>A c.8074C>A (p.Pro2692Thr)
2	g.73490030C>G	CA347267289	ALMS1	c.7690C>G (p.Pro2564Ala) c.1082C>G c.5142C>G c.2137C>G (p.Pro713Ala) c.8071C>G (p.Pro2691Ala) c.896-29745C>G c.2902C>G (p.Pro968Ala) c.7945C>G (p.Pro2649Ala) n.1874C>G c.8074C>G (p.Pro2692Ala)
2	g.73490030C>T	CA347267294	ALMS1	c.7690C>T (p.Pro2564Ser) c.1082C>T c.5142C>T c.2137C>T (p.Pro713Ser) c.8071C>T (p.Pro2691Ser) c.896-29745C>T c.2902C>T (p.Pro968Ser) c.7945C>T (p.Pro2649Ser) n.1874C>T c.8074C>T (p.Pro2692Ser)
2	g.73490031del	CA2577005008	ALMS1	c.7691del (p.Pro2564LeufsTer18) c.1083del c.5143del c.2138del (p.Pro713LeufsTer18) c.8072del (p.Pro2691LeufsTer18) c.896-29744del c.2903del (p.Pro968LeufsTer18) c.7946del (p.Pro2649LeufsTer18) n.1875del c.8075del (p.Pro2692LeufsTer18)	ClinVar
2	g.73490031C>A	CA50377970	ALMS1	c.7691C>A (p.Pro2564His) c.1083C>A c.5143C>A c.2138C>A (p.Pro713His) c.8072C>A (p.Pro2691His) c.896-29744C>A c.2903C>A (p.Pro968His) c.7946C>A (p.Pro2649His) n.1875C>A c.8075C>A (p.Pro2692His)	dbSNP
2	g.73490031C=	CA1260981303	ALMS1	c.7691C= (p.Pro2564=) c.1083C= c.5143C= c.2138C= (p.Pro713=) c.8072C= (p.Pro2691=) c.896-29744C= c.2903C= (p.Pro968=) c.7946C= (p.Pro2649=) n.1875C= c.8075C= (p.Pro2692=)
2	g.73490031C>G	CA347267301	ALMS1	c.7691C>G (p.Pro2564Arg) c.1083C>G c.5143C>G c.2138C>G (p.Pro713Arg) c.8072C>G (p.Pro2691Arg) c.896-29744C>G c.2903C>G (p.Pro968Arg) c.7946C>G (p.Pro2649Arg) n.1875C>G c.8075C>G (p.Pro2692Arg)	dbSNP gnomAD v4
2	g.73490031C>T	CA347267299	ALMS1	c.7691C>T (p.Pro2564Leu) c.1083C>T c.5143C>T c.2138C>T (p.Pro713Leu) c.8072C>T (p.Pro2691Leu) c.896-29744C>T c.2903C>T (p.Pro968Leu) c.7946C>T (p.Pro2649Leu) n.1875C>T c.8075C>T (p.Pro2692Leu)	gnomAD v4
2	g.73490032T>A	CA427000772	ALMS1	c.7692T>A (p.Pro2564=) c.1084T>A c.5144T>A c.2139T>A (p.Pro713=) c.8073T>A (p.Pro2691=) c.896-29743T>A c.2904T>A (p.Pro968=) c.7947T>A (p.Pro2649=) n.1876T>A c.8076T>A (p.Pro2692=)
2	g.73490032T>C	CA427000773	ALMS1	c.7692T>C (p.Pro2564=) c.1084T>C c.5144T>C c.2139T>C (p.Pro713=) c.8073T>C (p.Pro2691=) c.896-29743T>C c.2904T>C (p.Pro968=) c.7947T>C (p.Pro2649=) n.1876T>C c.8076T>C (p.Pro2692=)
2	g.73490032T>G	CA427000774	ALMS1	c.7692T>G (p.Pro2564=) c.1084T>G c.5144T>G c.2139T>G (p.Pro713=) c.8073T>G (p.Pro2691=) c.896-29743T>G c.2904T>G (p.Pro968=) c.7947T>G (p.Pro2649=) n.1876T>G c.8076T>G (p.Pro2692=)
2	g.73490033A=	CA1260981311	ALMS1	c.7693A= (p.Lys2565=) c.1085A= c.5145A= c.2140A= (p.Lys714=) c.8074A= (p.Lys2692=) c.896-29742A= c.2905A= (p.Lys969=) c.7948A= (p.Lys2650=) n.1877A= c.8077A= (p.Lys2693=)
2	g.73490033A>C	CA347267302	ALMS1	c.7693A>C (p.Lys2565Gln) c.1085A>C c.5145A>C c.2140A>C (p.Lys714Gln) c.8074A>C (p.Lys2692Gln) c.896-29742A>C c.2905A>C (p.Lys969Gln) c.7948A>C (p.Lys2650Gln) n.1877A>C c.8077A>C (p.Lys2693Gln)
2	g.73490033A>G	CA1714396	ALMS1	c.7693A>G (p.Lys2565Glu) c.1085A>G c.5145A>G c.2140A>G (p.Lys714Glu) c.8074A>G (p.Lys2692Glu) c.896-29742A>G c.2905A>G (p.Lys969Glu) c.7948A>G (p.Lys2650Glu) n.1877A>G c.8077A>G (p.Lys2693Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490033A>T	CA347267304	ALMS1	c.7693A>T (p.Lys2565Ter) c.1085A>T c.5145A>T c.2140A>T (p.Lys714Ter) c.8074A>T (p.Lys2692Ter) c.896-29742A>T c.2905A>T (p.Lys969Ter) c.7948A>T (p.Lys2650Ter) n.1877A>T c.8077A>T (p.Lys2693Ter)
2	g.73490033_73490036delinsAAAG	CA1260981314	ALMS1	c.7693_7696delinsAAAG (p.Lys2565=) c.1085_1088delinsAAAG c.5145_5148delinsAAAG c.2140_2143delinsAAAG (p.Lys714=) c.8074_8077delinsAAAG (p.Lys2692=) c.896-29742_896-29739delinsAAAG c.2905_2908delinsAAAG (p.Lys969=) c.7948_7951delinsAAAG (p.Lys2650=) n.1877_1880delinsAAAG c.8077_8080delinsAAAG (p.Lys2693=)
2	g.73490035_73490038del	CA913090802	ALMS1	c.7695_7698del (p.Glu2566TrpfsTer15) c.1087_1090del c.5147_5150del c.2142_2145del (p.Glu715TrpfsTer15) c.8076_8079del (p.Glu2693TrpfsTer15) c.896-29740_896-29737del c.2907_2910del (p.Glu970TrpfsTer15) c.7950_7953del (p.Glu2651TrpfsTer15) n.1879_1882del c.8079_8082del (p.Glu2694TrpfsTer15)
2	g.73490034A=	CA1260981318	ALMS1	c.7694A= (p.Lys2565=) c.1086A= c.5146A= c.2141A= (p.Lys714=) c.8075A= (p.Lys2692=) c.896-29741A= c.2906A= (p.Lys969=) c.7949A= (p.Lys2650=) n.1878A= c.8078A= (p.Lys2693=)
2	g.73490034A>C	CA347267307	ALMS1	c.7694A>C (p.Lys2565Thr) c.1086A>C c.5146A>C c.2141A>C (p.Lys714Thr) c.8075A>C (p.Lys2692Thr) c.896-29741A>C c.2906A>C (p.Lys969Thr) c.7949A>C (p.Lys2650Thr) n.1878A>C c.8078A>C (p.Lys2693Thr)
2	g.73490034A>G	CA347267309	ALMS1	c.7694A>G (p.Lys2565Arg) c.1086A>G c.5146A>G c.2141A>G (p.Lys714Arg) c.8075A>G (p.Lys2692Arg) c.896-29741A>G c.2906A>G (p.Lys969Arg) c.7949A>G (p.Lys2650Arg) n.1878A>G c.8078A>G (p.Lys2693Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.73490034A>T	CA347267313	ALMS1	c.7694A>T (p.Lys2565Ile) c.1086A>T c.5146A>T c.2141A>T (p.Lys714Ile) c.8075A>T (p.Lys2692Ile) c.896-29741A>T c.2906A>T (p.Lys969Ile) c.7949A>T (p.Lys2650Ile) n.1878A>T c.8078A>T (p.Lys2693Ile)
2	g.73490037_73490039del	CA658821973	ALMS1	c.7697_7699del (p.Glu2566del) c.1089_1091del c.5149_5151del c.2144_2146del (p.Glu715del) c.8078_8080del (p.Glu2693del) c.896-29738_896-29736del c.2909_2911del (p.Glu970del) c.7952_7954del (p.Glu2651del) n.1881_1883del c.8081_8083del (p.Glu2694del)	ClinVar dbSNP
2	g.73490035A>C	CA347267316	ALMS1	c.7695A>C (p.Lys2565Asn) c.1087A>C c.5147A>C c.2142A>C (p.Lys714Asn) c.8076A>C (p.Lys2692Asn) c.896-29740A>C c.2907A>C (p.Lys969Asn) c.7950A>C (p.Lys2650Asn) n.1879A>C c.8079A>C (p.Lys2693Asn)
2	g.73490035A>G	CA427000775	ALMS1	c.7695A>G (p.Lys2565=) c.1087A>G c.5147A>G c.2142A>G (p.Lys714=) c.8076A>G (p.Lys2692=) c.896-29740A>G c.2907A>G (p.Lys969=) c.7950A>G (p.Lys2650=) n.1879A>G c.8079A>G (p.Lys2693=)
2	g.73490035A>T	CA347267317	ALMS1	c.7695A>T (p.Lys2565Asn) c.1087A>T c.5147A>T c.2142A>T (p.Lys714Asn) c.8076A>T (p.Lys2692Asn) c.896-29740A>T c.2907A>T (p.Lys969Asn) c.7950A>T (p.Lys2650Asn) n.1879A>T c.8079A>T (p.Lys2693Asn)
2	g.73490036G>A	CA347267320	ALMS1	c.7696G>A (p.Glu2566Lys) c.1088G>A c.5148G>A c.2143G>A (p.Glu715Lys) c.8077G>A (p.Glu2693Lys) c.896-29739G>A c.2908G>A (p.Glu970Lys) c.7951G>A (p.Glu2651Lys) n.1880G>A c.8080G>A (p.Glu2694Lys)
2	g.73490036G>C	CA347267323	ALMS1	c.7696G>C (p.Glu2566Gln) c.1088G>C c.5148G>C c.2143G>C (p.Glu715Gln) c.8077G>C (p.Glu2693Gln) c.896-29739G>C c.2908G>C (p.Glu970Gln) c.7951G>C (p.Glu2651Gln) n.1880G>C c.8080G>C (p.Glu2694Gln)
2	g.73490036G=	CA1260981325	ALMS1	c.7696G= (p.Glu2566=) c.1088G= c.5148G= c.2143G= (p.Glu715=) c.8077G= (p.Glu2693=) c.896-29739G= c.2908G= (p.Glu970=) c.7951G= (p.Glu2651=) n.1880G= c.8080G= (p.Glu2694=)
2	g.73490036G>T	CA347267325	ALMS1	c.7696G>T (p.Glu2566Ter) c.1088G>T c.5148G>T c.2143G>T (p.Glu715Ter) c.8077G>T (p.Glu2693Ter) c.896-29739G>T c.2908G>T (p.Glu970Ter) c.7951G>T (p.Glu2651Ter) n.1880G>T c.8080G>T (p.Glu2694Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490037A=	CA1260981328	ALMS1	c.7697A= (p.Glu2566=) c.1089A= c.5149A= c.2144A= (p.Glu715=) c.8078A= (p.Glu2693=) c.896-29738A= c.2909A= (p.Glu970=) c.7952A= (p.Glu2651=) n.1881A= c.8081A= (p.Glu2694=)
2	g.73490037A>C	CA1714397	ALMS1	c.7697A>C (p.Glu2566Ala) c.1089A>C c.5149A>C c.2144A>C (p.Glu715Ala) c.8078A>C (p.Glu2693Ala) c.896-29738A>C c.2909A>C (p.Glu970Ala) c.7952A>C (p.Glu2651Ala) n.1881A>C c.8081A>C (p.Glu2694Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490037A>G	CA347267330	ALMS1	c.7697A>G (p.Glu2566Gly) c.1089A>G c.5149A>G c.2144A>G (p.Glu715Gly) c.8078A>G (p.Glu2693Gly) c.896-29738A>G c.2909A>G (p.Glu970Gly) c.7952A>G (p.Glu2651Gly) n.1881A>G c.8081A>G (p.Glu2694Gly)
2	g.73490037A>T	CA347267328	ALMS1	c.7697A>T (p.Glu2566Val) c.1089A>T c.5149A>T c.2144A>T (p.Glu715Val) c.8078A>T (p.Glu2693Val) c.896-29738A>T c.2909A>T (p.Glu970Val) c.7952A>T (p.Glu2651Val) n.1881A>T c.8081A>T (p.Glu2694Val)
2	g.73490038A=	CA1260981330	ALMS1	c.7698A= (p.Glu2566=) c.1090A= c.5150A= c.2145A= (p.Glu715=) c.8079A= (p.Glu2693=) c.896-29737A= c.2910A= (p.Glu970=) c.7953A= (p.Glu2651=) n.1882A= c.8082A= (p.Glu2694=)
2	g.73490038A>C	CA347267332	ALMS1	c.7698A>C (p.Glu2566Asp) c.1090A>C c.5150A>C c.2145A>C (p.Glu715Asp) c.8079A>C (p.Glu2693Asp) c.896-29737A>C c.2910A>C (p.Glu970Asp) c.7953A>C (p.Glu2651Asp) n.1882A>C c.8082A>C (p.Glu2694Asp)
2	g.73490038A>G	CA427000776	ALMS1	c.7698A>G (p.Glu2566=) c.1090A>G c.5150A>G c.2145A>G (p.Glu715=) c.8079A>G (p.Glu2693=) c.896-29737A>G c.2910A>G (p.Glu970=) c.7953A>G (p.Glu2651=) n.1882A>G c.8082A>G (p.Glu2694=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490038A>T	CA347267334	ALMS1	c.7698A>T (p.Glu2566Asp) c.1090A>T c.5150A>T c.2145A>T (p.Glu715Asp) c.8079A>T (p.Glu2693Asp) c.896-29737A>T c.2910A>T (p.Glu970Asp) c.7953A>T (p.Glu2651Asp) n.1882A>T c.8082A>T (p.Glu2694Asp)
2	g.73490039G>A	CA347267339	ALMS1	c.7699G>A (p.Val2567Met) c.1091G>A c.5151G>A c.2146G>A (p.Val716Met) c.8080G>A (p.Val2694Met) c.896-29736G>A c.2911G>A (p.Val971Met) c.7954G>A (p.Val2652Met) n.1883G>A c.8083G>A (p.Val2695Met)	gnomAD v4
2	g.73490039G>C	CA347267341	ALMS1	c.7699G>C (p.Val2567Leu) c.1091G>C c.5151G>C c.2146G>C (p.Val716Leu) c.8080G>C (p.Val2694Leu) c.896-29736G>C c.2911G>C (p.Val971Leu) c.7954G>C (p.Val2652Leu) n.1883G>C c.8083G>C (p.Val2695Leu)
2	g.73490039G>T	CA347267342	ALMS1	c.7699G>T (p.Val2567Leu) c.1091G>T c.5151G>T c.2146G>T (p.Val716Leu) c.8080G>T (p.Val2694Leu) c.896-29736G>T c.2911G>T (p.Val971Leu) c.7954G>T (p.Val2652Leu) n.1883G>T c.8083G>T (p.Val2695Leu)
2	g.73490040T>A	CA347267343	ALMS1	c.7700T>A (p.Val2567Glu) c.1092T>A c.5152T>A c.2147T>A (p.Val716Glu) c.8081T>A (p.Val2694Glu) c.896-29735T>A c.2912T>A (p.Val971Glu) c.7955T>A (p.Val2652Glu) n.1884T>A c.8084T>A (p.Val2695Glu)
2	g.73490040T>C	CA347267344	ALMS1	c.7700T>C (p.Val2567Ala) c.1092T>C c.5152T>C c.2147T>C (p.Val716Ala) c.8081T>C (p.Val2694Ala) c.896-29735T>C c.2912T>C (p.Val971Ala) c.7955T>C (p.Val2652Ala) n.1884T>C c.8084T>C (p.Val2695Ala)
2	g.73490040T>G	CA1714398	ALMS1	c.7700T>G (p.Val2567Gly) c.1092T>G c.5152T>G c.2147T>G (p.Val716Gly) c.8081T>G (p.Val2694Gly) c.896-29735T>G c.2912T>G (p.Val971Gly) c.7955T>G (p.Val2652Gly) n.1884T>G c.8084T>G (p.Val2695Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490040T=	CA1260981332	ALMS1	c.7700T= (p.Val2567=) c.1092T= c.5152T= c.2147T= (p.Val716=) c.8081T= (p.Val2694=) c.896-29735T= c.2912T= (p.Val971=) c.7955T= (p.Val2652=) n.1884T= c.8084T= (p.Val2695=)
2	g.73490041G>A	CA427000777	ALMS1	c.7701G>A (p.Val2567=) c.1093G>A c.5153G>A c.2148G>A (p.Val716=) c.8082G>A (p.Val2694=) c.896-29734G>A c.2913G>A (p.Val971=) c.7956G>A (p.Val2652=) n.1885G>A c.8085G>A (p.Val2695=)	dbSNP
2	g.73490041G>C	CA427000778	ALMS1	c.7701G>C (p.Val2567=) c.1093G>C c.5153G>C c.2148G>C (p.Val716=) c.8082G>C (p.Val2694=) c.896-29734G>C c.2913G>C (p.Val971=) c.7956G>C (p.Val2652=) n.1885G>C c.8085G>C (p.Val2695=)
2	g.73490041G>T	CA427000779	ALMS1	c.7701G>T (p.Val2567=) c.1093G>T c.5153G>T c.2148G>T (p.Val716=) c.8082G>T (p.Val2694=) c.896-29734G>T c.2913G>T (p.Val971=) c.7956G>T (p.Val2652=) n.1885G>T c.8085G>T (p.Val2695=)
2	g.73490042G>A	CA347267348	ALMS1	c.7702G>A (p.Asp2568Asn) c.1094G>A c.5154G>A c.2149G>A (p.Asp717Asn) c.8083G>A (p.Asp2695Asn) c.896-29733G>A c.2914G>A (p.Asp972Asn) c.7957G>A (p.Asp2653Asn) n.1886G>A c.8086G>A (p.Asp2696Asn)	dbSNP gnomAD v3 gnomAD v4
2	g.73490042G>C	CA347267349	ALMS1	c.7702G>C (p.Asp2568His) c.1094G>C c.5154G>C c.2149G>C (p.Asp717His) c.8083G>C (p.Asp2695His) c.896-29733G>C c.2914G>C (p.Asp972His) c.7957G>C (p.Asp2653His) n.1886G>C c.8086G>C (p.Asp2696His)
2	g.73490042G=	CA1260981336	ALMS1	c.7702G= (p.Asp2568=) c.1094G= c.5154G= c.2149G= (p.Asp717=) c.8083G= (p.Asp2695=) c.896-29733G= c.2914G= (p.Asp972=) c.7957G= (p.Asp2653=) n.1886G= c.8086G= (p.Asp2696=)
2	g.73490042G>T	CA347267353	ALMS1	c.7702G>T (p.Asp2568Tyr) c.1094G>T c.5154G>T c.2149G>T (p.Asp717Tyr) c.8083G>T (p.Asp2695Tyr) c.896-29733G>T c.2914G>T (p.Asp972Tyr) c.7957G>T (p.Asp2653Tyr) n.1886G>T c.8086G>T (p.Asp2696Tyr)
2	g.73490043A>C	CA347267366	ALMS1	c.7703A>C (p.Asp2568Ala) c.1095A>C c.5155A>C c.2150A>C (p.Asp717Ala) c.8084A>C (p.Asp2695Ala) c.896-29732A>C c.2915A>C (p.Asp972Ala) c.7958A>C (p.Asp2653Ala) n.1887A>C c.8087A>C (p.Asp2696Ala)
2	g.73490043A>G	CA347267365	ALMS1	c.7703A>G (p.Asp2568Gly) c.1095A>G c.5155A>G c.2150A>G (p.Asp717Gly) c.8084A>G (p.Asp2695Gly) c.896-29732A>G c.2915A>G (p.Asp972Gly) c.7958A>G (p.Asp2653Gly) n.1887A>G c.8087A>G (p.Asp2696Gly)
2	g.73490043A>T	CA347267364	ALMS1	c.7703A>T (p.Asp2568Val) c.1095A>T c.5155A>T c.2150A>T (p.Asp717Val) c.8084A>T (p.Asp2695Val) c.896-29732A>T c.2915A>T (p.Asp972Val) c.7958A>T (p.Asp2653Val) n.1887A>T c.8087A>T (p.Asp2696Val)
2	g.73490044T>A	CA347267369	ALMS1	c.7704T>A (p.Asp2568Glu) c.1096T>A c.5156T>A c.2151T>A (p.Asp717Glu) c.8085T>A (p.Asp2695Glu) c.896-29731T>A c.2916T>A (p.Asp972Glu) c.7959T>A (p.Asp2653Glu) n.1888T>A c.8088T>A (p.Asp2696Glu)
2	g.73490044T>C	CA427000780	ALMS1	c.7704T>C (p.Asp2568=) c.1096T>C c.5156T>C c.2151T>C (p.Asp717=) c.8085T>C (p.Asp2695=) c.896-29731T>C c.2916T>C (p.Asp972=) c.7959T>C (p.Asp2653=) n.1888T>C c.8088T>C (p.Asp2696=)
2	g.73490044T>G	CA347267370	ALMS1	c.7704T>G (p.Asp2568Glu) c.1096T>G c.5156T>G c.2151T>G (p.Asp717Glu) c.8085T>G (p.Asp2695Glu) c.896-29731T>G c.2916T>G (p.Asp972Glu) c.7959T>G (p.Asp2653Glu) n.1888T>G c.8088T>G (p.Asp2696Glu)
2	g.73490047dup	CA2577005009	ALMS1	c.7707dup (p.His2570SerfsTer28) c.1099dup c.5159dup c.2154dup (p.His719SerfsTer28) c.8088dup (p.His2697SerfsTer28) c.896-29728dup c.2919dup (p.His974SerfsTer28) c.7962dup (p.His2655SerfsTer28) n.1891dup c.8091dup (p.His2698SerfsTer28)	gnomAD v4
2	g.73490045T>A	CA347267373	ALMS1	c.7705T>A (p.Phe2569Ile) c.1097T>A c.5157T>A c.2152T>A (p.Phe718Ile) c.8086T>A (p.Phe2696Ile) c.896-29730T>A c.2917T>A (p.Phe973Ile) c.7960T>A (p.Phe2654Ile) n.1889T>A c.8089T>A (p.Phe2697Ile)
2	g.73490045T>C	CA347267376	ALMS1	c.7705T>C (p.Phe2569Leu) c.1097T>C c.5157T>C c.2152T>C (p.Phe718Leu) c.8086T>C (p.Phe2696Leu) c.896-29730T>C c.2917T>C (p.Phe973Leu) c.7960T>C (p.Phe2654Leu) n.1889T>C c.8089T>C (p.Phe2697Leu)
2	g.73490045T>G	CA347267378	ALMS1	c.7705T>G (p.Phe2569Val) c.1097T>G c.5157T>G c.2152T>G (p.Phe718Val) c.8086T>G (p.Phe2696Val) c.896-29730T>G c.2917T>G (p.Phe973Val) c.7960T>G (p.Phe2654Val) n.1889T>G c.8089T>G (p.Phe2697Val)	gnomAD v4
2	g.73490046T>A	CA347267380	ALMS1	c.7706T>A (p.Phe2569Tyr) c.1098T>A c.5158T>A c.2153T>A (p.Phe718Tyr) c.8087T>A (p.Phe2696Tyr) c.896-29729T>A c.2918T>A (p.Phe973Tyr) c.7961T>A (p.Phe2654Tyr) n.1890T>A c.8090T>A (p.Phe2697Tyr)
2	g.73490046T>C	CA347267386	ALMS1	c.7706T>C (p.Phe2569Ser) c.1098T>C c.5158T>C c.2153T>C (p.Phe718Ser) c.8087T>C (p.Phe2696Ser) c.896-29729T>C c.2918T>C (p.Phe973Ser) c.7961T>C (p.Phe2654Ser) n.1890T>C c.8090T>C (p.Phe2697Ser)
2	g.73490046T>G	CA347267388	ALMS1	c.7706T>G (p.Phe2569Cys) c.1098T>G c.5158T>G c.2153T>G (p.Phe718Cys) c.8087T>G (p.Phe2696Cys) c.896-29729T>G c.2918T>G (p.Phe973Cys) c.7961T>G (p.Phe2654Cys) n.1890T>G c.8090T>G (p.Phe2697Cys)
2	g.73490047T>A	CA347267390	ALMS1	c.7707T>A (p.Phe2569Leu) c.1099T>A c.5159T>A c.2154T>A (p.Phe718Leu) c.8088T>A (p.Phe2696Leu) c.896-29728T>A c.2919T>A (p.Phe973Leu) c.7962T>A (p.Phe2654Leu) n.1891T>A c.8091T>A (p.Phe2697Leu)
2	g.73490047T>C	CA427000781	ALMS1	c.7707T>C (p.Phe2569=) c.1099T>C c.5159T>C c.2154T>C (p.Phe718=) c.8088T>C (p.Phe2696=) c.896-29728T>C c.2919T>C (p.Phe973=) c.7962T>C (p.Phe2654=) n.1891T>C c.8091T>C (p.Phe2697=)
2	g.73490047T>G	CA347267393	ALMS1	c.7707T>G (p.Phe2569Leu) c.1099T>G c.5159T>G c.2154T>G (p.Phe718Leu) c.8088T>G (p.Phe2696Leu) c.896-29728T>G c.2919T>G (p.Phe973Leu) c.7962T>G (p.Phe2654Leu) n.1891T>G c.8091T>G (p.Phe2697Leu)
2	g.73490048C>A	CA347267394	ALMS1	c.7708C>A (p.His2570Asn) c.1100C>A c.5160C>A c.2155C>A (p.His719Asn) c.8089C>A (p.His2697Asn) c.896-29727C>A c.2920C>A (p.His974Asn) c.7963C>A (p.His2655Asn) n.1892C>A c.8092C>A (p.His2698Asn)
2	g.73490048C=	CA1260981339	ALMS1	c.7708C= (p.His2570=) c.1100C= c.5160C= c.2155C= (p.His719=) c.8089C= (p.His2697=) c.896-29727C= c.2920C= (p.His974=) c.7963C= (p.His2655=) n.1892C= c.8092C= (p.His2698=)
2	g.73490048C>G	CA347267395	ALMS1	c.7708C>G (p.His2570Asp) c.1100C>G c.5160C>G c.2155C>G (p.His719Asp) c.8089C>G (p.His2697Asp) c.896-29727C>G c.2920C>G (p.His974Asp) c.7963C>G (p.His2655Asp) n.1892C>G c.8092C>G (p.His2698Asp)
2	g.73490048C>T	CA50378010	ALMS1	c.7708C>T (p.His2570Tyr) c.1100C>T c.5160C>T c.2155C>T (p.His719Tyr) c.8089C>T (p.His2697Tyr) c.896-29727C>T c.2920C>T (p.His974Tyr) c.7963C>T (p.His2655Tyr) n.1892C>T c.8092C>T (p.His2698Tyr)	ClinVar dbSNP
2	g.73490049A=	CA1260981342	ALMS1	c.7709A= (p.His2570=) c.1101A= c.5161A= c.2156A= (p.His719=) c.8090A= (p.His2697=) c.896-29726A= c.2921A= (p.His974=) c.7964A= (p.His2655=) n.1893A= c.8093A= (p.His2698=)
2	g.73490049A>C	CA1714399	ALMS1	c.7709A>C (p.His2570Pro) c.1101A>C c.5161A>C c.2156A>C (p.His719Pro) c.8090A>C (p.His2697Pro) c.896-29726A>C c.2921A>C (p.His974Pro) c.7964A>C (p.His2655Pro) n.1893A>C c.8093A>C (p.His2698Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490049A>G	CA347267397	ALMS1	c.7709A>G (p.His2570Arg) c.1101A>G c.5161A>G c.2156A>G (p.His719Arg) c.8090A>G (p.His2697Arg) c.896-29726A>G c.2921A>G (p.His974Arg) c.7964A>G (p.His2655Arg) n.1893A>G c.8093A>G (p.His2698Arg)
2	g.73490049A>T	CA347267399	ALMS1	c.7709A>T (p.His2570Leu) c.1101A>T c.5161A>T c.2156A>T (p.His719Leu) c.8090A>T (p.His2697Leu) c.896-29726A>T c.2921A>T (p.His974Leu) c.7964A>T (p.His2655Leu) n.1893A>T c.8093A>T (p.His2698Leu)	gnomAD v4
2	g.73490050T>A	CA347267402	ALMS1	c.7710T>A (p.His2570Gln) c.1102T>A c.5162T>A c.2157T>A (p.His719Gln) c.8091T>A (p.His2697Gln) c.896-29725T>A c.2922T>A (p.His974Gln) c.7965T>A (p.His2655Gln) n.1894T>A c.8094T>A (p.His2698Gln)
2	g.73490050T>C	CA427000782	ALMS1	c.7710T>C (p.His2570=) c.1102T>C c.5162T>C c.2157T>C (p.His719=) c.8091T>C (p.His2697=) c.896-29725T>C c.2922T>C (p.His974=) c.7965T>C (p.His2655=) n.1894T>C c.8094T>C (p.His2698=)
2	g.73490050T>G	CA347267404	ALMS1	c.7710T>G (p.His2570Gln) c.1102T>G c.5162T>G c.2157T>G (p.His719Gln) c.8091T>G (p.His2697Gln) c.896-29725T>G c.2922T>G (p.His974Gln) c.7965T>G (p.His2655Gln) n.1894T>G c.8094T>G (p.His2698Gln)	gnomAD v4
2	g.73490053_73490055del	CA2659619850	ALMS1	c.7713_7715del (p.Ser2572del) c.1105_1107del c.5165_5167del c.2160_2162del (p.Ser721del) c.8094_8096del (p.Ser2699del) c.896-29722_896-29720del c.2925_2927del (p.Ser976del) c.7968_7970del (p.Ser2657del) n.1897_1899del c.8097_8099del (p.Ser2700del)	gnomAD v4
2	g.73490051T>A	CA347267406	ALMS1	c.7711T>A (p.Ser2571Thr) c.1103T>A c.5163T>A c.2158T>A (p.Ser720Thr) c.8092T>A (p.Ser2698Thr) c.896-29724T>A c.2923T>A (p.Ser975Thr) c.7966T>A (p.Ser2656Thr) n.1895T>A c.8095T>A (p.Ser2699Thr)
2	g.73490051T>C	CA347267415	ALMS1	c.7711T>C (p.Ser2571Pro) c.1103T>C c.5163T>C c.2158T>C (p.Ser720Pro) c.8092T>C (p.Ser2698Pro) c.896-29724T>C c.2923T>C (p.Ser975Pro) c.7966T>C (p.Ser2656Pro) n.1895T>C c.8095T>C (p.Ser2699Pro)
2	g.73490051T>G	CA347267416	ALMS1	c.7711T>G (p.Ser2571Ala) c.1103T>G c.5163T>G c.2158T>G (p.Ser720Ala) c.8092T>G (p.Ser2698Ala) c.896-29724T>G c.2923T>G (p.Ser975Ala) c.7966T>G (p.Ser2656Ala) n.1895T>G c.8095T>G (p.Ser2699Ala)
2	g.73490052C>A	CA347267417	ALMS1	c.7712C>A (p.Ser2571Tyr) c.1104C>A c.5164C>A c.2159C>A (p.Ser720Tyr) c.8093C>A (p.Ser2698Tyr) c.896-29723C>A c.2924C>A (p.Ser975Tyr) c.7967C>A (p.Ser2656Tyr) n.1896C>A c.8096C>A (p.Ser2699Tyr)
2	g.73490052C>G	CA347267418	ALMS1	c.7712C>G (p.Ser2571Cys) c.1104C>G c.5164C>G c.2159C>G (p.Ser720Cys) c.8093C>G (p.Ser2698Cys) c.896-29723C>G c.2924C>G (p.Ser975Cys) c.7967C>G (p.Ser2656Cys) n.1896C>G c.8096C>G (p.Ser2699Cys)
2	g.73490052C>T	CA347267420	ALMS1	c.7712C>T (p.Ser2571Phe) c.1104C>T c.5164C>T c.2159C>T (p.Ser720Phe) c.8093C>T (p.Ser2698Phe) c.896-29723C>T c.2924C>T (p.Ser975Phe) c.7967C>T (p.Ser2656Phe) n.1896C>T c.8096C>T (p.Ser2699Phe)
2	g.73490053T>A	CA427000793	ALMS1	c.7713T>A (p.Ser2571=) c.1105T>A c.5165T>A c.2160T>A (p.Ser720=) c.8094T>A (p.Ser2698=) c.896-29722T>A c.2925T>A (p.Ser975=) c.7968T>A (p.Ser2656=) n.1897T>A c.8097T>A (p.Ser2699=)
2	g.73490053T>C	CA427000794	ALMS1	c.7713T>C (p.Ser2571=) c.1105T>C c.5165T>C c.2160T>C (p.Ser720=) c.8094T>C (p.Ser2698=) c.896-29722T>C c.2925T>C (p.Ser975=) c.7968T>C (p.Ser2656=) n.1897T>C c.8097T>C (p.Ser2699=)	gnomAD v4
2	g.73490053T>G	CA427000795	ALMS1	c.7713T>G (p.Ser2571=) c.1105T>G c.5165T>G c.2160T>G (p.Ser720=) c.8094T>G (p.Ser2698=) c.896-29722T>G c.2925T>G (p.Ser975=) c.7968T>G (p.Ser2656=) n.1897T>G c.8097T>G (p.Ser2699=)
2	g.73490054T>A	CA347267422	ALMS1	c.7714T>A (p.Ser2572Thr) c.1106T>A c.5166T>A c.2161T>A (p.Ser721Thr) c.8095T>A (p.Ser2699Thr) c.896-29721T>A c.2926T>A (p.Ser976Thr) c.7969T>A (p.Ser2657Thr) n.1898T>A c.8098T>A (p.Ser2700Thr)
2	g.73490054T>C	CA347267424	ALMS1	c.7714T>C (p.Ser2572Pro) c.1106T>C c.5166T>C c.2161T>C (p.Ser721Pro) c.8095T>C (p.Ser2699Pro) c.896-29721T>C c.2926T>C (p.Ser976Pro) c.7969T>C (p.Ser2657Pro) n.1898T>C c.8098T>C (p.Ser2700Pro)
2	g.73490054T>G	CA347267426	ALMS1	c.7714T>G (p.Ser2572Ala) c.1106T>G c.5166T>G c.2161T>G (p.Ser721Ala) c.8095T>G (p.Ser2699Ala) c.896-29721T>G c.2926T>G (p.Ser976Ala) c.7969T>G (p.Ser2657Ala) n.1898T>G c.8098T>G (p.Ser2700Ala)
2	g.73490055C>A	CA347267428	ALMS1	c.7715C>A (p.Ser2572Ter) c.1107C>A c.5167C>A c.2162C>A (p.Ser721Ter) c.8096C>A (p.Ser2699Ter) c.896-29720C>A c.2927C>A (p.Ser976Ter) c.7970C>A (p.Ser2657Ter) n.1899C>A c.8099C>A (p.Ser2700Ter)
2	g.73490055C=	CA1260981346	ALMS1	c.7715C= (p.Ser2572=) c.1107C= c.5167C= c.2162C= (p.Ser721=) c.8096C= (p.Ser2699=) c.896-29720C= c.2927C= (p.Ser976=) c.7970C= (p.Ser2657=) n.1899C= c.8099C= (p.Ser2700=)
2	g.73490055C>G	CA347267430	ALMS1	c.7715C>G (p.Ser2572Ter) c.1107C>G c.5167C>G c.2162C>G (p.Ser721Ter) c.8096C>G (p.Ser2699Ter) c.896-29720C>G c.2927C>G (p.Ser976Ter) c.7970C>G (p.Ser2657Ter) n.1899C>G c.8099C>G (p.Ser2700Ter)
2	g.73490055C>T	CA1714400	ALMS1	c.7715C>T (p.Ser2572Leu) c.1107C>T c.5167C>T c.2162C>T (p.Ser721Leu) c.8096C>T (p.Ser2699Leu) c.896-29720C>T c.2927C>T (p.Ser976Leu) c.7970C>T (p.Ser2657Leu) n.1899C>T c.8099C>T (p.Ser2700Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490056A>C	CA427000803	ALMS1	c.7716A>C (p.Ser2572=) c.1108A>C c.5168A>C c.2163A>C (p.Ser721=) c.8097A>C (p.Ser2699=) c.896-29719A>C c.2928A>C (p.Ser976=) c.7971A>C (p.Ser2657=) n.1900A>C c.8100A>C (p.Ser2700=)	gnomAD v4
2	g.73490056A>G	CA427000805	ALMS1	c.7716A>G (p.Ser2572=) c.1108A>G c.5168A>G c.2163A>G (p.Ser721=) c.8097A>G (p.Ser2699=) c.896-29719A>G c.2928A>G (p.Ser976=) c.7971A>G (p.Ser2657=) n.1900A>G c.8100A>G (p.Ser2700=)	gnomAD v4
2	g.73490056A>T	CA427000807	ALMS1	c.7716A>T (p.Ser2572=) c.1108A>T c.5168A>T c.2163A>T (p.Ser721=) c.8097A>T (p.Ser2699=) c.896-29719A>T c.2928A>T (p.Ser976=) c.7971A>T (p.Ser2657=) n.1900A>T c.8100A>T (p.Ser2700=)
2	g.73490057T>A	CA347267432	ALMS1	c.7717T>A (p.Ser2573Thr) c.1109T>A c.5169T>A c.2164T>A (p.Ser722Thr) c.8098T>A (p.Ser2700Thr) c.896-29718T>A c.2929T>A (p.Ser977Thr) c.7972T>A (p.Ser2658Thr) n.1901T>A c.8101T>A (p.Ser2701Thr)
2	g.73490057T>C	CA347267434	ALMS1	c.7717T>C (p.Ser2573Pro) c.1109T>C c.5169T>C c.2164T>C (p.Ser722Pro) c.8098T>C (p.Ser2700Pro) c.896-29718T>C c.2929T>C (p.Ser977Pro) c.7972T>C (p.Ser2658Pro) n.1901T>C c.8101T>C (p.Ser2701Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490057T>G	CA347267436	ALMS1	c.7717T>G (p.Ser2573Ala) c.1109T>G c.5169T>G c.2164T>G (p.Ser722Ala) c.8098T>G (p.Ser2700Ala) c.896-29718T>G c.2929T>G (p.Ser977Ala) c.7972T>G (p.Ser2658Ala) n.1901T>G c.8101T>G (p.Ser2701Ala)
2	g.73490057T=	CA1260981351	ALMS1	c.7717T= (p.Ser2573=) c.1109T= c.5169T= c.2164T= (p.Ser722=) c.8098T= (p.Ser2700=) c.896-29718T= c.2929T= (p.Ser977=) c.7972T= (p.Ser2658=) n.1901T= c.8101T= (p.Ser2701=)
2	g.73490058C>A	CA347267437	ALMS1	c.7718C>A (p.Ser2573Ter) c.1110C>A c.5170C>A c.2165C>A (p.Ser722Ter) c.8099C>A (p.Ser2700Ter) c.896-29717C>A c.2930C>A (p.Ser977Ter) c.7973C>A (p.Ser2658Ter) n.1902C>A c.8102C>A (p.Ser2701Ter)
2	g.73490058C=	CA1260981353	ALMS1	c.7718C= (p.Ser2573=) c.1110C= c.5170C= c.2165C= (p.Ser722=) c.8099C= (p.Ser2700=) c.896-29717C= c.2930C= (p.Ser977=) c.7973C= (p.Ser2658=) n.1902C= c.8102C= (p.Ser2701=)
2	g.73490058C>G	CA347267439	ALMS1	c.7718C>G (p.Ser2573Ter) c.1110C>G c.5170C>G c.2165C>G (p.Ser722Ter) c.8099C>G (p.Ser2700Ter) c.896-29717C>G c.2930C>G (p.Ser977Ter) c.7973C>G (p.Ser2658Ter) n.1902C>G c.8102C>G (p.Ser2701Ter)
2	g.73490058C>T	CA347267441	ALMS1	c.7718C>T (p.Ser2573Leu) c.1110C>T c.5170C>T c.2165C>T (p.Ser722Leu) c.8099C>T (p.Ser2700Leu) c.896-29717C>T c.2930C>T (p.Ser977Leu) c.7973C>T (p.Ser2658Leu) n.1902C>T c.8102C>T (p.Ser2701Leu)	dbSNP gnomAD v4
2	g.73490059A=	CA1260981355	ALMS1	c.7719A= (p.Ser2573=) c.1111A= c.5171A= c.2166A= (p.Ser722=) c.8100A= (p.Ser2700=) c.896-29716A= c.2931A= (p.Ser977=) c.7974A= (p.Ser2658=) n.1903A= c.8103A= (p.Ser2701=)
2	g.73490059A>C	CA427000813	ALMS1	c.7719A>C (p.Ser2573=) c.1111A>C c.5171A>C c.2166A>C (p.Ser722=) c.8100A>C (p.Ser2700=) c.896-29716A>C c.2931A>C (p.Ser977=) c.7974A>C (p.Ser2658=) n.1903A>C c.8103A>C (p.Ser2701=)
2	g.73490059A>G	CA427000815	ALMS1	c.7719A>G (p.Ser2573=) c.1111A>G c.5171A>G c.2166A>G (p.Ser722=) c.8100A>G (p.Ser2700=) c.896-29716A>G c.2931A>G (p.Ser977=) c.7974A>G (p.Ser2658=) n.1903A>G c.8103A>G (p.Ser2701=)	dbSNP gnomAD v2 gnomAD v4
2	g.73490059A>T	CA427000816	ALMS1	c.7719A>T (p.Ser2573=) c.1111A>T c.5171A>T c.2166A>T (p.Ser722=) c.8100A>T (p.Ser2700=) c.896-29716A>T c.2931A>T (p.Ser977=) c.7974A>T (p.Ser2658=) n.1903A>T c.8103A>T (p.Ser2701=)
2	g.73490059_73490060delinsAC	CA1260981358	ALMS1	c.7719_7720delinsAC (p.Ser2573=) c.1111_1112delinsAC c.5171_5172delinsAC c.2166_2167delinsAC (p.Ser722=) c.8100_8101delinsAC (p.Ser2700=) c.896-29716_896-29715delinsAC c.2931_2932delinsAC (p.Ser977=) c.7974_7975delinsAC (p.Ser2658=) n.1903_1904delinsAC c.8103_8104delinsAC (p.Ser2701=)
2	g.73490060del	CA892865923	ALMS1	c.7720del (p.Gln2574LysfsTer8) c.1112del c.5172del c.2167del (p.Gln723LysfsTer8) c.8101del (p.Gln2701LysfsTer8) c.896-29715del c.2932del (p.Gln978LysfsTer8) c.7975del (p.Gln2659LysfsTer8) n.1904del c.8104del (p.Gln2702LysfsTer8)	dbSNP gnomAD v3 gnomAD v4
2	g.73490060C>A	CA347267448	ALMS1	c.7720C>A (p.Gln2574Lys) c.1112C>A c.5172C>A c.2167C>A (p.Gln723Lys) c.8101C>A (p.Gln2701Lys) c.896-29715C>A c.2932C>A (p.Gln978Lys) c.7975C>A (p.Gln2659Lys) n.1904C>A c.8104C>A (p.Gln2702Lys)
2	g.73490060C>G	CA347267444	ALMS1	c.7720C>G (p.Gln2574Glu) c.1112C>G c.5172C>G c.2167C>G (p.Gln723Glu) c.8101C>G (p.Gln2701Glu) c.896-29715C>G c.2932C>G (p.Gln978Glu) c.7975C>G (p.Gln2659Glu) n.1904C>G c.8104C>G (p.Gln2702Glu)
2	g.73490060C>T	CA347267445	ALMS1	c.7720C>T (p.Gln2574Ter) c.1112C>T c.5172C>T c.2167C>T (p.Gln723Ter) c.8101C>T (p.Gln2701Ter) c.896-29715C>T c.2932C>T (p.Gln978Ter) c.7975C>T (p.Gln2659Ter) n.1904C>T c.8104C>T (p.Gln2702Ter)
2	g.73490061A=	CA1260981363	ALMS1	c.7721A= (p.Gln2574=) c.1113A= c.5173A= c.2168A= (p.Gln723=) c.8102A= (p.Gln2701=) c.896-29714A= c.2933A= (p.Gln978=) c.7976A= (p.Gln2659=) n.1905A= c.8105A= (p.Gln2702=)
2	g.73490061A>C	CA1714401	ALMS1	c.7721A>C (p.Gln2574Pro) c.1113A>C c.5173A>C c.2168A>C (p.Gln723Pro) c.8102A>C (p.Gln2701Pro) c.896-29714A>C c.2933A>C (p.Gln978Pro) c.7976A>C (p.Gln2659Pro) n.1905A>C c.8105A>C (p.Gln2702Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490061A>G	CA347267451	ALMS1	c.7721A>G (p.Gln2574Arg) c.1113A>G c.5173A>G c.2168A>G (p.Gln723Arg) c.8102A>G (p.Gln2701Arg) c.896-29714A>G c.2933A>G (p.Gln978Arg) c.7976A>G (p.Gln2659Arg) n.1905A>G c.8105A>G (p.Gln2702Arg)
2	g.73490061A>T	CA347267453	ALMS1	c.7721A>T (p.Gln2574Leu) c.1113A>T c.5173A>T c.2168A>T (p.Gln723Leu) c.8102A>T (p.Gln2701Leu) c.896-29714A>T c.2933A>T (p.Gln978Leu) c.7976A>T (p.Gln2659Leu) n.1905A>T c.8105A>T (p.Gln2702Leu)
2	g.73490062A>C	CA347267454	ALMS1	c.7722A>C (p.Gln2574His) c.1114A>C c.5174A>C c.2169A>C (p.Gln723His) c.8103A>C (p.Gln2701His) c.896-29713A>C c.2934A>C (p.Gln978His) c.7977A>C (p.Gln2659His) n.1906A>C c.8106A>C (p.Gln2702His)
2	g.73490062A>G	CA427000824	ALMS1	c.7722A>G (p.Gln2574=) c.1114A>G c.5174A>G c.2169A>G (p.Gln723=) c.8103A>G (p.Gln2701=) c.896-29713A>G c.2934A>G (p.Gln978=) c.7977A>G (p.Gln2659=) n.1906A>G c.8106A>G (p.Gln2702=)
2	g.73490062A>T	CA347267456	ALMS1	c.7722A>T (p.Gln2574His) c.1114A>T c.5174A>T c.2169A>T (p.Gln723His) c.8103A>T (p.Gln2701His) c.896-29713A>T c.2934A>T (p.Gln978His) c.7977A>T (p.Gln2659His) n.1906A>T c.8106A>T (p.Gln2702His)
2	g.73490063A>C	CA347267457	ALMS1	c.7723A>C (p.Met2575Leu) c.1115A>C c.5175A>C c.2170A>C (p.Met724Leu) c.8104A>C (p.Met2702Leu) c.896-29712A>C c.2935A>C (p.Met979Leu) c.7978A>C (p.Met2660Leu) n.1907A>C c.8107A>C (p.Met2703Leu)
2	g.73490063A>G	CA347267460	ALMS1	c.7723A>G (p.Met2575Val) c.1115A>G c.5175A>G c.2170A>G (p.Met724Val) c.8104A>G (p.Met2702Val) c.896-29712A>G c.2935A>G (p.Met979Val) c.7978A>G (p.Met2660Val) n.1907A>G c.8107A>G (p.Met2703Val)
2	g.73490063A>T	CA347267458	ALMS1	c.7723A>T (p.Met2575Leu) c.1115A>T c.5175A>T c.2170A>T (p.Met724Leu) c.8104A>T (p.Met2702Leu) c.896-29712A>T c.2935A>T (p.Met979Leu) c.7978A>T (p.Met2660Leu) n.1907A>T c.8107A>T (p.Met2703Leu)
2	g.73490064T>A	CA347267462	ALMS1	c.7724T>A (p.Met2575Lys) c.1116T>A c.5176T>A c.2171T>A (p.Met724Lys) c.8105T>A (p.Met2702Lys) c.896-29711T>A c.2936T>A (p.Met979Lys) c.7979T>A (p.Met2660Lys) n.1908T>A c.8108T>A (p.Met2703Lys)
2	g.73490064T>C	CA347267465	ALMS1	c.7724T>C (p.Met2575Thr) c.1116T>C c.5176T>C c.2171T>C (p.Met724Thr) c.8105T>C (p.Met2702Thr) c.896-29711T>C c.2936T>C (p.Met979Thr) c.7979T>C (p.Met2660Thr) n.1908T>C c.8108T>C (p.Met2703Thr)
2	g.73490064T>G	CA347267468	ALMS1	c.7724T>G (p.Met2575Arg) c.1116T>G c.5176T>G c.2171T>G (p.Met724Arg) c.8105T>G (p.Met2702Arg) c.896-29711T>G c.2936T>G (p.Met979Arg) c.7979T>G (p.Met2660Arg) n.1908T>G c.8108T>G (p.Met2703Arg)
2	g.73490065G>A	CA347267469	ALMS1	c.7725G>A (p.Met2575Ile) c.1117G>A c.5177G>A c.2172G>A (p.Met724Ile) c.8106G>A (p.Met2702Ile) c.896-29710G>A c.2937G>A (p.Met979Ile) c.7980G>A (p.Met2660Ile) n.1909G>A c.8109G>A (p.Met2703Ile)
2	g.73490065G>C	CA347267470	ALMS1	c.7725G>C (p.Met2575Ile) c.1117G>C c.5177G>C c.2172G>C (p.Met724Ile) c.8106G>C (p.Met2702Ile) c.896-29710G>C c.2937G>C (p.Met979Ile) c.7980G>C (p.Met2660Ile) n.1909G>C c.8109G>C (p.Met2703Ile)
2	g.73490065G>T	CA347267471	ALMS1	c.7725G>T (p.Met2575Ile) c.1117G>T c.5177G>T c.2172G>T (p.Met724Ile) c.8106G>T (p.Met2702Ile) c.896-29710G>T c.2937G>T (p.Met979Ile) c.7980G>T (p.Met2660Ile) n.1909G>T c.8109G>T (p.Met2703Ile)
2	g.73490066C>A	CA347267472	ALMS1	c.7726C>A (p.Pro2576Thr) c.1118C>A c.5178C>A c.2173C>A (p.Pro725Thr) c.8107C>A (p.Pro2703Thr) c.896-29709C>A c.2938C>A (p.Pro980Thr) c.7981C>A (p.Pro2661Thr) n.1910C>A c.8110C>A (p.Pro2704Thr)
2	g.73490066C>G	CA347267474	ALMS1	c.7726C>G (p.Pro2576Ala) c.1118C>G c.5178C>G c.2173C>G (p.Pro725Ala) c.8107C>G (p.Pro2703Ala) c.896-29709C>G c.2938C>G (p.Pro980Ala) c.7981C>G (p.Pro2661Ala) n.1910C>G c.8110C>G (p.Pro2704Ala)
2	g.73490066C>T	CA347267475	ALMS1	c.7726C>T (p.Pro2576Ser) c.1118C>T c.5178C>T c.2173C>T (p.Pro725Ser) c.8107C>T (p.Pro2703Ser) c.896-29709C>T c.2938C>T (p.Pro980Ser) c.7981C>T (p.Pro2661Ser) n.1910C>T c.8110C>T (p.Pro2704Ser)
2	g.73490067C>A	CA347267476	ALMS1	c.7727C>A (p.Pro2576Gln) c.1119C>A c.5179C>A c.2174C>A (p.Pro725Gln) c.8108C>A (p.Pro2703Gln) c.896-29708C>A c.2939C>A (p.Pro980Gln) c.7982C>A (p.Pro2661Gln) n.1911C>A c.8111C>A (p.Pro2704Gln)	gnomAD v4
2	g.73490067C=	CA1260981369	ALMS1	c.7727C= (p.Pro2576=) c.1119C= c.5179C= c.2174C= (p.Pro725=) c.8108C= (p.Pro2703=) c.896-29708C= c.2939C= (p.Pro980=) c.7982C= (p.Pro2661=) n.1911C= c.8111C= (p.Pro2704=)
2	g.73490067C>G	CA347267478	ALMS1	c.7727C>G (p.Pro2576Arg) c.1119C>G c.5179C>G c.2174C>G (p.Pro725Arg) c.8108C>G (p.Pro2703Arg) c.896-29708C>G c.2939C>G (p.Pro980Arg) c.7982C>G (p.Pro2661Arg) n.1911C>G c.8111C>G (p.Pro2704Arg)
2	g.73490067C>T	CA1714402	ALMS1	c.7727C>T (p.Pro2576Leu) c.1119C>T c.5179C>T c.2174C>T (p.Pro725Leu) c.8108C>T (p.Pro2703Leu) c.896-29708C>T c.2939C>T (p.Pro980Leu) c.7982C>T (p.Pro2661Leu) n.1911C>T c.8111C>T (p.Pro2704Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490068del	CA2499216255	ALMS1	c.7728del (p.Ser2577ProfsTer5) c.1120del c.5180del c.2175del (p.Ser726ProfsTer5) c.8109del (p.Ser2704ProfsTer5) c.896-29707del c.2940del (p.Ser981ProfsTer5) c.7983del (p.Ser2662ProfsTer5) n.1912del c.8112del (p.Ser2705ProfsTer5)	ClinVar dbSNP
2	g.73490068G>A	CA1714403	ALMS1	c.7728G>A (p.Pro2576=) c.1120G>A c.5180G>A c.2175G>A (p.Pro725=) c.8109G>A (p.Pro2703=) c.896-29707G>A c.2940G>A (p.Pro980=) c.7983G>A (p.Pro2661=) n.1912G>A c.8112G>A (p.Pro2704=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490068G>C	CA427000831	ALMS1	c.7728G>C (p.Pro2576=) c.1120G>C c.5180G>C c.2175G>C (p.Pro725=) c.8109G>C (p.Pro2703=) c.896-29707G>C c.2940G>C (p.Pro980=) c.7983G>C (p.Pro2661=) n.1912G>C c.8112G>C (p.Pro2704=)
2	g.73490068G=	CA1260981374	ALMS1	c.7728G= (p.Pro2576=) c.1120G= c.5180G= c.2175G= (p.Pro725=) c.8109G= (p.Pro2703=) c.896-29707G= c.2940G= (p.Pro980=) c.7983G= (p.Pro2661=) n.1912G= c.8112G= (p.Pro2704=)
2	g.73490068G>T	CA1714404	ALMS1	c.7728G>T (p.Pro2576=) c.1120G>T c.5180G>T c.2175G>T (p.Pro725=) c.8109G>T (p.Pro2703=) c.896-29707G>T c.2940G>T (p.Pro980=) c.7983G>T (p.Pro2661=) n.1912G>T c.8112G>T (p.Pro2704=)	dbSNP ExAC gnomAD v2
2	g.73490069T>A	CA347267484	ALMS1	c.7729T>A (p.Ser2577Thr) c.1121T>A c.5181T>A c.2176T>A (p.Ser726Thr) c.8110T>A (p.Ser2704Thr) c.896-29706T>A c.2941T>A (p.Ser981Thr) c.7984T>A (p.Ser2662Thr) n.1913T>A c.8113T>A (p.Ser2705Thr)
2	g.73490069T>C	CA347267489	ALMS1	c.7729T>C (p.Ser2577Pro) c.1121T>C c.5181T>C c.2176T>C (p.Ser726Pro) c.8110T>C (p.Ser2704Pro) c.896-29706T>C c.2941T>C (p.Ser981Pro) c.7984T>C (p.Ser2662Pro) n.1913T>C c.8113T>C (p.Ser2705Pro)
2	g.73490069T>G	CA347267487	ALMS1	c.7729T>G (p.Ser2577Ala) c.1121T>G c.5181T>G c.2176T>G (p.Ser726Ala) c.8110T>G (p.Ser2704Ala) c.896-29706T>G c.2941T>G (p.Ser981Ala) c.7984T>G (p.Ser2662Ala) n.1913T>G c.8113T>G (p.Ser2705Ala)
2	g.73490070C>A	CA347267495	ALMS1	c.7730C>A (p.Ser2577Tyr) c.1122C>A c.5182C>A c.2177C>A (p.Ser726Tyr) c.8111C>A (p.Ser2704Tyr) c.896-29705C>A c.2942C>A (p.Ser981Tyr) c.7985C>A (p.Ser2662Tyr) n.1914C>A c.8114C>A (p.Ser2705Tyr)	dbSNP
2	g.73490070C=	CA1260981381	ALMS1	c.7730C= (p.Ser2577=) c.1122C= c.5182C= c.2177C= (p.Ser726=) c.8111C= (p.Ser2704=) c.896-29705C= c.2942C= (p.Ser981=) c.7985C= (p.Ser2662=) n.1914C= c.8114C= (p.Ser2705=)
2	g.73490070C>G	CA347267496	ALMS1	c.7730C>G (p.Ser2577Cys) c.1122C>G c.5182C>G c.2177C>G (p.Ser726Cys) c.8111C>G (p.Ser2704Cys) c.896-29705C>G c.2942C>G (p.Ser981Cys) c.7985C>G (p.Ser2662Cys) n.1914C>G c.8114C>G (p.Ser2705Cys)
2	g.73490070C>T	CA1714405	ALMS1	c.7730C>T (p.Ser2577Phe) c.1122C>T c.5182C>T c.2177C>T (p.Ser726Phe) c.8111C>T (p.Ser2704Phe) c.896-29705C>T c.2942C>T (p.Ser981Phe) c.7985C>T (p.Ser2662Phe) n.1914C>T c.8114C>T (p.Ser2705Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490071C>A	CA427000841	ALMS1	c.7731C>A (p.Ser2577=) c.1123C>A c.5183C>A c.2178C>A (p.Ser726=) c.8112C>A (p.Ser2704=) c.896-29704C>A c.2943C>A (p.Ser981=) c.7986C>A (p.Ser2662=) n.1915C>A c.8115C>A (p.Ser2705=)
2	g.73490071C>G	CA427000843	ALMS1	c.7731C>G (p.Ser2577=) c.1123C>G c.5183C>G c.2178C>G (p.Ser726=) c.8112C>G (p.Ser2704=) c.896-29704C>G c.2943C>G (p.Ser981=) c.7986C>G (p.Ser2662=) n.1915C>G c.8115C>G (p.Ser2705=)
2	g.73490071C>T	CA427000840	ALMS1	c.7731C>T (p.Ser2577=) c.1123C>T c.5183C>T c.2178C>T (p.Ser726=) c.8112C>T (p.Ser2704=) c.896-29704C>T c.2943C>T (p.Ser981=) c.7986C>T (p.Ser2662=) n.1915C>T c.8115C>T (p.Ser2705=)
2	g.73490072C>A	CA347267497	ALMS1	c.7732C>A (p.Pro2578Thr) c.1124C>A c.5184C>A c.2179C>A (p.Pro727Thr) c.8113C>A (p.Pro2705Thr) c.896-29703C>A c.2944C>A (p.Pro982Thr) c.7987C>A (p.Pro2663Thr) n.1916C>A c.8116C>A (p.Pro2706Thr)
2	g.73490072C=	CA1260981388	ALMS1	c.7732C= (p.Pro2578=) c.1124C= c.5184C= c.2179C= (p.Pro727=) c.8113C= (p.Pro2705=) c.896-29703C= c.2944C= (p.Pro982=) c.7987C= (p.Pro2663=) n.1916C= c.8116C= (p.Pro2706=)
2	g.73490072C>G	CA347267498	ALMS1	c.7732C>G (p.Pro2578Ala) c.1124C>G c.5184C>G c.2179C>G (p.Pro727Ala) c.8113C>G (p.Pro2705Ala) c.896-29703C>G c.2944C>G (p.Pro982Ala) c.7987C>G (p.Pro2663Ala) n.1916C>G c.8116C>G (p.Pro2706Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.73490072C>T	CA347267499	ALMS1	c.7732C>T (p.Pro2578Ser) c.1124C>T c.5184C>T c.2179C>T (p.Pro727Ser) c.8113C>T (p.Pro2705Ser) c.896-29703C>T c.2944C>T (p.Pro982Ser) c.7987C>T (p.Pro2663Ser) n.1916C>T c.8116C>T (p.Pro2706Ser)
2	g.73490073C>A	CA347267500	ALMS1	c.7733C>A (p.Pro2578Gln) c.1125C>A c.5185C>A c.2180C>A (p.Pro727Gln) c.8114C>A (p.Pro2705Gln) c.896-29702C>A c.2945C>A (p.Pro982Gln) c.7988C>A (p.Pro2663Gln) n.1917C>A c.8117C>A (p.Pro2706Gln)
2	g.73490073C>G	CA347267502	ALMS1	c.7733C>G (p.Pro2578Arg) c.1125C>G c.5185C>G c.2180C>G (p.Pro727Arg) c.8114C>G (p.Pro2705Arg) c.896-29702C>G c.2945C>G (p.Pro982Arg) c.7988C>G (p.Pro2663Arg) n.1917C>G c.8117C>G (p.Pro2706Arg)
2	g.73490073C>T	CA347267503	ALMS1	c.7733C>T (p.Pro2578Leu) c.1125C>T c.5185C>T c.2180C>T (p.Pro727Leu) c.8114C>T (p.Pro2705Leu) c.896-29702C>T c.2945C>T (p.Pro982Leu) c.7988C>T (p.Pro2663Leu) n.1917C>T c.8117C>T (p.Pro2706Leu)	ClinVar
2	g.73490074A>C	CA427000853	ALMS1	c.7734A>C (p.Pro2578=) c.1126A>C c.5186A>C c.2181A>C (p.Pro727=) c.8115A>C (p.Pro2705=) c.896-29701A>C c.2946A>C (p.Pro982=) c.7989A>C (p.Pro2663=) n.1918A>C c.8118A>C (p.Pro2706=)
2	g.73490074A>G	CA427000849	ALMS1	c.7734A>G (p.Pro2578=) c.1126A>G c.5186A>G c.2181A>G (p.Pro727=) c.8115A>G (p.Pro2705=) c.896-29701A>G c.2946A>G (p.Pro982=) c.7989A>G (p.Pro2663=) n.1918A>G c.8118A>G (p.Pro2706=)
2	g.73490074A>T	CA427000847	ALMS1	c.7734A>T (p.Pro2578=) c.1126A>T c.5186A>T c.2181A>T (p.Pro727=) c.8115A>T (p.Pro2705=) c.896-29701A>T c.2946A>T (p.Pro982=) c.7989A>T (p.Pro2663=) n.1918A>T c.8118A>T (p.Pro2706=)
2	g.73490075G>A	CA347267504	ALMS1	c.7735G>A (p.Glu2579Lys) c.1127G>A c.5187G>A c.2182G>A (p.Glu728Lys) c.8116G>A (p.Glu2706Lys) c.896-29700G>A c.2947G>A (p.Glu983Lys) c.7990G>A (p.Glu2664Lys) n.1919G>A c.8119G>A (p.Glu2707Lys)
2	g.73490075G>C	CA347267506	ALMS1	c.7735G>C (p.Glu2579Gln) c.1127G>C c.5187G>C c.2182G>C (p.Glu728Gln) c.8116G>C (p.Glu2706Gln) c.896-29700G>C c.2947G>C (p.Glu983Gln) c.7990G>C (p.Glu2664Gln) n.1919G>C c.8119G>C (p.Glu2707Gln)
2	g.73490075G>T	CA347267507	ALMS1	c.7735G>T (p.Glu2579Ter) c.1127G>T c.5187G>T c.2182G>T (p.Glu728Ter) c.8116G>T (p.Glu2706Ter) c.896-29700G>T c.2947G>T (p.Glu983Ter) c.7990G>T (p.Glu2664Ter) n.1919G>T c.8119G>T (p.Glu2707Ter)
2	g.73490075_73490077delinsGAA	CA1260981392	ALMS1	c.7735_7737delinsGAA (p.Glu2579=) c.1127_1129delinsGAA c.5187_5189delinsGAA c.2182_2184delinsGAA (p.Glu728=) c.8116_8118delinsGAA (p.Glu2706=) c.896-29700_896-29698delinsGAA c.2947_2949delinsGAA (p.Glu983=) c.7990_7992delinsGAA (p.Glu2664=) n.1919_1921delinsGAA c.8119_8121delinsGAA (p.Glu2707=)
2	g.73490076A=	CA1260981398	ALMS1	c.7736A= (p.Glu2579=) c.1128A= c.5188A= c.2183A= (p.Glu728=) c.8117A= (p.Glu2706=) c.896-29699A= c.2948A= (p.Glu983=) c.7991A= (p.Glu2664=) n.1920A= c.8120A= (p.Glu2707=)
2	g.73490076A>C	CA347267508	ALMS1	c.7736A>C (p.Glu2579Ala) c.1128A>C c.5188A>C c.2183A>C (p.Glu728Ala) c.8117A>C (p.Glu2706Ala) c.896-29699A>C c.2948A>C (p.Glu983Ala) c.7991A>C (p.Glu2664Ala) n.1920A>C c.8120A>C (p.Glu2707Ala)
2	g.73490076A>G	CA1714406	ALMS1	c.7736A>G (p.Glu2579Gly) c.1128A>G c.5188A>G c.2183A>G (p.Glu728Gly) c.8117A>G (p.Glu2706Gly) c.896-29699A>G c.2948A>G (p.Glu983Gly) c.7991A>G (p.Glu2664Gly) n.1920A>G c.8120A>G (p.Glu2707Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490076A>T	CA347267510	ALMS1	c.7736A>T (p.Glu2579Val) c.1128A>T c.5188A>T c.2183A>T (p.Glu728Val) c.8117A>T (p.Glu2706Val) c.896-29699A>T c.2948A>T (p.Glu983Val) c.7991A>T (p.Glu2664Val) n.1920A>T c.8120A>T (p.Glu2707Val)
2	g.73490076_73490077delinsG	CA915944024	ALMS1	c.7736_7737delinsG (p.Glu2579GlyfsTer3) c.1128_1129delinsG c.5188_5189delinsG c.2183_2184delinsG (p.Glu728GlyfsTer3) c.8117_8118delinsG (p.Glu2706GlyfsTer3) c.896-29699_896-29698delinsG c.2948_2949delinsG (p.Glu983GlyfsTer3) c.7991_7992delinsG (p.Glu2664GlyfsTer3) n.1920_1921delinsG c.8120_8121delinsG (p.Glu2707GlyfsTer3)	ClinVar dbSNP
2	g.73490077del	CA892865947	ALMS1	c.7737del (p.Glu2579AspfsTer3) c.1129del c.5189del c.2184del (p.Glu728AspfsTer3) c.8118del (p.Glu2706AspfsTer3) c.896-29698del c.2949del (p.Glu983AspfsTer3) c.7992del (p.Glu2664AspfsTer3) n.1921del c.8121del (p.Glu2707AspfsTer3)	dbSNP gnomAD v3 gnomAD v4
2	g.73490077A=	CA1260981410	ALMS1	c.7737A= (p.Glu2579=) c.1129A= c.5189A= c.2184A= (p.Glu728=) c.8118A= (p.Glu2706=) c.896-29698A= c.2949A= (p.Glu983=) c.7992A= (p.Glu2664=) n.1921A= c.8121A= (p.Glu2707=)
2	g.73490077A>C	CA347267512	ALMS1	c.7737A>C (p.Glu2579Asp) c.1129A>C c.5189A>C c.2184A>C (p.Glu728Asp) c.8118A>C (p.Glu2706Asp) c.896-29698A>C c.2949A>C (p.Glu983Asp) c.7992A>C (p.Glu2664Asp) n.1921A>C c.8121A>C (p.Glu2707Asp)
2	g.73490077A>G	CA427000864	ALMS1	c.7737A>G (p.Glu2579=) c.1129A>G c.5189A>G c.2184A>G (p.Glu728=) c.8118A>G (p.Glu2706=) c.896-29698A>G c.2949A>G (p.Glu983=) c.7992A>G (p.Glu2664=) n.1921A>G c.8121A>G (p.Glu2707=)	dbSNP gnomAD v3 gnomAD v4
2	g.73490077A>T	CA347267513	ALMS1	c.7737A>T (p.Glu2579Asp) c.1129A>T c.5189A>T c.2184A>T (p.Glu728Asp) c.8118A>T (p.Glu2706Asp) c.896-29698A>T c.2949A>T (p.Glu983Asp) c.7992A>T (p.Glu2664Asp) n.1921A>T c.8121A>T (p.Glu2707Asp)
2	g.73490078C>A	CA347267515	ALMS1	c.7738C>A (p.Pro2580Thr) c.1130C>A c.5190C>A c.2185C>A (p.Pro729Thr) c.8119C>A (p.Pro2707Thr) c.896-29697C>A c.2950C>A (p.Pro984Thr) c.7993C>A (p.Pro2665Thr) n.1922C>A c.8122C>A (p.Pro2708Thr)
2	g.73490078C>G	CA347267516	ALMS1	c.7738C>G (p.Pro2580Ala) c.1130C>G c.5190C>G c.2185C>G (p.Pro729Ala) c.8119C>G (p.Pro2707Ala) c.896-29697C>G c.2950C>G (p.Pro984Ala) c.7993C>G (p.Pro2665Ala) n.1922C>G c.8122C>G (p.Pro2708Ala)
2	g.73490078C>T	CA347267518	ALMS1	c.7738C>T (p.Pro2580Ser) c.1130C>T c.5190C>T c.2185C>T (p.Pro729Ser) c.8119C>T (p.Pro2707Ser) c.896-29697C>T c.2950C>T (p.Pro984Ser) c.7993C>T (p.Pro2665Ser) n.1922C>T c.8122C>T (p.Pro2708Ser)
2	g.73490079C>A	CA347267521	ALMS1	c.7739C>A (p.Pro2580His) c.1131C>A c.5191C>A c.2186C>A (p.Pro729His) c.8120C>A (p.Pro2707His) c.896-29696C>A c.2951C>A (p.Pro984His) c.7994C>A (p.Pro2665His) n.1923C>A c.8123C>A (p.Pro2708His)
2	g.73490079C>G	CA347267523	ALMS1	c.7739C>G (p.Pro2580Arg) c.1131C>G c.5191C>G c.2186C>G (p.Pro729Arg) c.8120C>G (p.Pro2707Arg) c.896-29696C>G c.2951C>G (p.Pro984Arg) c.7994C>G (p.Pro2665Arg) n.1923C>G c.8123C>G (p.Pro2708Arg)
2	g.73490079C>T	CA347267525	ALMS1	c.7739C>T (p.Pro2580Leu) c.1131C>T c.5191C>T c.2186C>T (p.Pro729Leu) c.8120C>T (p.Pro2707Leu) c.896-29696C>T c.2951C>T (p.Pro984Leu) c.7994C>T (p.Pro2665Leu) n.1923C>T c.8123C>T (p.Pro2708Leu)	gnomAD v4
2	g.73490080C>A	CA427000871	ALMS1	c.7740C>A (p.Pro2580=) c.1132C>A c.5192C>A c.2187C>A (p.Pro729=) c.8121C>A (p.Pro2707=) c.896-29695C>A c.2952C>A (p.Pro984=) c.7995C>A (p.Pro2665=) n.1924C>A c.8124C>A (p.Pro2708=)
2	g.73490080C>G	CA427000872	ALMS1	c.7740C>G (p.Pro2580=) c.1132C>G c.5192C>G c.2187C>G (p.Pro729=) c.8121C>G (p.Pro2707=) c.896-29695C>G c.2952C>G (p.Pro984=) c.7995C>G (p.Pro2665=) n.1924C>G c.8124C>G (p.Pro2708=)
2	g.73490080C>T	CA427000874	ALMS1	c.7740C>T (p.Pro2580=) c.1132C>T c.5192C>T c.2187C>T (p.Pro729=) c.8121C>T (p.Pro2707=) c.896-29695C>T c.2952C>T (p.Pro984=) c.7995C>T (p.Pro2665=) n.1924C>T c.8124C>T (p.Pro2708=)
2	g.73490081A=	CA1260981418	ALMS1	c.7741A= (p.Met2581=) c.1133A= c.5193A= c.2188A= (p.Met730=) c.8122A= (p.Met2708=) c.896-29694A= c.2953A= (p.Met985=) c.7996A= (p.Met2666=) n.1925A= c.8125A= (p.Met2709=)
2	g.73490081A>C	CA1714407	ALMS1	c.7741A>C (p.Met2581Leu) c.1133A>C c.5193A>C c.2188A>C (p.Met730Leu) c.8122A>C (p.Met2708Leu) c.896-29694A>C c.2953A>C (p.Met985Leu) c.7996A>C (p.Met2666Leu) n.1925A>C c.8125A>C (p.Met2709Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490081A>G	CA347267528	ALMS1	c.7741A>G (p.Met2581Val) c.1133A>G c.5193A>G c.2188A>G (p.Met730Val) c.8122A>G (p.Met2708Val) c.896-29694A>G c.2953A>G (p.Met985Val) c.7996A>G (p.Met2666Val) n.1925A>G c.8125A>G (p.Met2709Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490081A>T	CA347267529	ALMS1	c.7741A>T (p.Met2581Leu) c.1133A>T c.5193A>T c.2188A>T (p.Met730Leu) c.8122A>T (p.Met2708Leu) c.896-29694A>T c.2953A>T (p.Met985Leu) c.7996A>T (p.Met2666Leu) n.1925A>T c.8125A>T (p.Met2709Leu)
2	g.73490082T>A	CA347267531	ALMS1	c.7742T>A (p.Met2581Lys) c.1134T>A c.5194T>A c.2189T>A (p.Met730Lys) c.8123T>A (p.Met2708Lys) c.896-29693T>A c.2954T>A (p.Met985Lys) c.7997T>A (p.Met2666Lys) n.1926T>A c.8126T>A (p.Met2709Lys)	dbSNP
2	g.73490082T>C	CA347267533	ALMS1	c.7742T>C (p.Met2581Thr) c.1134T>C c.5194T>C c.2189T>C (p.Met730Thr) c.8123T>C (p.Met2708Thr) c.896-29693T>C c.2954T>C (p.Met985Thr) c.7997T>C (p.Met2666Thr) n.1926T>C c.8126T>C (p.Met2709Thr)	ClinVar
2	g.73490082T>G	CA347267535	ALMS1	c.7742T>G (p.Met2581Arg) c.1134T>G c.5194T>G c.2189T>G (p.Met730Arg) c.8123T>G (p.Met2708Arg) c.896-29693T>G c.2954T>G (p.Met985Arg) c.7997T>G (p.Met2666Arg) n.1926T>G c.8126T>G (p.Met2709Arg)
2	g.73490082T=	CA1260981423	ALMS1	c.7742T= (p.Met2581=) c.1134T= c.5194T= c.2189T= (p.Met730=) c.8123T= (p.Met2708=) c.896-29693T= c.2954T= (p.Met985=) c.7997T= (p.Met2666=) n.1926T= c.8126T= (p.Met2709=)
2	g.73490083G>A	CA347267538	ALMS1	c.7743G>A (p.Met2581Ile) c.1135G>A c.5195G>A c.2190G>A (p.Met730Ile) c.8124G>A (p.Met2708Ile) c.896-29692G>A c.2955G>A (p.Met985Ile) c.7998G>A (p.Met2666Ile) n.1927G>A c.8127G>A (p.Met2709Ile)
2	g.73490083G>C	CA347267541	ALMS1	c.7743G>C (p.Met2581Ile) c.1135G>C c.5195G>C c.2190G>C (p.Met730Ile) c.8124G>C (p.Met2708Ile) c.896-29692G>C c.2955G>C (p.Met985Ile) c.7998G>C (p.Met2666Ile) n.1927G>C c.8127G>C (p.Met2709Ile)
2	g.73490083G=	CA1260981426	ALMS1	c.7743G= (p.Met2581=) c.1135G= c.5195G= c.2190G= (p.Met730=) c.8124G= (p.Met2708=) c.896-29692G= c.2955G= (p.Met985=) c.7998G= (p.Met2666=) n.1927G= c.8127G= (p.Met2709=)
2	g.73490083G>T	CA50378083	ALMS1	c.7743G>T (p.Met2581Ile) c.1135G>T c.5195G>T c.2190G>T (p.Met730Ile) c.8124G>T (p.Met2708Ile) c.896-29692G>T c.2955G>T (p.Met985Ile) c.7998G>T (p.Met2666Ile) n.1927G>T c.8127G>T (p.Met2709Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.73490084A=	CA1260981429	ALMS1	c.7744A= (p.Lys2582=) c.1136A= c.5196A= c.2191A= (p.Lys731=) c.8125A= (p.Lys2709=) c.896-29691A= c.2956A= (p.Lys986=) c.7999A= (p.Lys2667=) n.1928A= c.8128A= (p.Lys2710=)
2	g.73490084A>C	CA347267544	ALMS1	c.7744A>C (p.Lys2582Gln) c.1136A>C c.5196A>C c.2191A>C (p.Lys731Gln) c.8125A>C (p.Lys2709Gln) c.896-29691A>C c.2956A>C (p.Lys986Gln) c.7999A>C (p.Lys2667Gln) n.1928A>C c.8128A>C (p.Lys2710Gln)
2	g.73490084A>G	CA50378087	ALMS1	c.7744A>G (p.Lys2582Glu) c.1136A>G c.5196A>G c.2191A>G (p.Lys731Glu) c.8125A>G (p.Lys2709Glu) c.896-29691A>G c.2956A>G (p.Lys986Glu) c.7999A>G (p.Lys2667Glu) n.1928A>G c.8128A>G (p.Lys2710Glu)	dbSNP
2	g.73490084A>T	CA347267545	ALMS1	c.7744A>T (p.Lys2582Ter) c.1136A>T c.5196A>T c.2191A>T (p.Lys731Ter) c.8125A>T (p.Lys2709Ter) c.896-29691A>T c.2956A>T (p.Lys986Ter) c.7999A>T (p.Lys2667Ter) n.1928A>T c.8128A>T (p.Lys2710Ter)
2	g.73490088del	CA2580068233	ALMS1	c.7748del (p.Lys2583SerfsTer?) c.1140del c.5200del c.2195del (p.Lys732SerfsTer?) c.8129del (p.Lys2710SerfsTer?) c.896-29687del c.2960del (p.Lys987SerfsTer?) c.8003del (p.Lys2668SerfsTer?) n.1932del c.8132del (p.Lys2711SerfsTer?)	ClinVar
2	g.73490085A=	CA1260981431	ALMS1	c.7745A= (p.Lys2582=) c.1137A= c.5197A= c.2192A= (p.Lys731=) c.8126A= (p.Lys2709=) c.896-29690A= c.2957A= (p.Lys986=) c.8000A= (p.Lys2667=) n.1929A= c.8129A= (p.Lys2710=)
2	g.73490085A>C	CA347267546	ALMS1	c.7745A>C (p.Lys2582Thr) c.1137A>C c.5197A>C c.2192A>C (p.Lys731Thr) c.8126A>C (p.Lys2709Thr) c.896-29690A>C c.2957A>C (p.Lys986Thr) c.8000A>C (p.Lys2667Thr) n.1929A>C c.8129A>C (p.Lys2710Thr)
2	g.73490085A>G	CA1714408	ALMS1	c.7745A>G (p.Lys2582Arg) c.1137A>G c.5197A>G c.2192A>G (p.Lys731Arg) c.8126A>G (p.Lys2709Arg) c.896-29690A>G c.2957A>G (p.Lys986Arg) c.8000A>G (p.Lys2667Arg) n.1929A>G c.8129A>G (p.Lys2710Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490085A>T	CA347267547	ALMS1	c.7745A>T (p.Lys2582Ile) c.1137A>T c.5197A>T c.2192A>T (p.Lys731Ile) c.8126A>T (p.Lys2709Ile) c.896-29690A>T c.2957A>T (p.Lys986Ile) c.8000A>T (p.Lys2667Ile) n.1929A>T c.8129A>T (p.Lys2710Ile)
2	g.73490086A=	CA1260981434	ALMS1	c.7746A= (p.Lys2582=) c.1138A= c.5198A= c.2193A= (p.Lys731=) c.8127A= (p.Lys2709=) c.896-29689A= c.2958A= (p.Lys986=) c.8001A= (p.Lys2667=) n.1930A= c.8130A= (p.Lys2710=)
2	g.73490086A>C	CA347267550	ALMS1	c.7746A>C (p.Lys2582Asn) c.1138A>C c.5198A>C c.2193A>C (p.Lys731Asn) c.8127A>C (p.Lys2709Asn) c.896-29689A>C c.2958A>C (p.Lys986Asn) c.8001A>C (p.Lys2667Asn) n.1930A>C c.8130A>C (p.Lys2710Asn)
2	g.73490086A>G	CA1714409	ALMS1	c.7746A>G (p.Lys2582=) c.1138A>G c.5198A>G c.2193A>G (p.Lys731=) c.8127A>G (p.Lys2709=) c.896-29689A>G c.2958A>G (p.Lys986=) c.8001A>G (p.Lys2667=) n.1930A>G c.8130A>G (p.Lys2710=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490086A>T	CA347267553	ALMS1	c.7746A>T (p.Lys2582Asn) c.1138A>T c.5198A>T c.2193A>T (p.Lys731Asn) c.8127A>T (p.Lys2709Asn) c.896-29689A>T c.2958A>T (p.Lys986Asn) c.8001A>T (p.Lys2667Asn) n.1930A>T c.8130A>T (p.Lys2710Asn)
2	g.73490087A>C	CA347267554	ALMS1	c.7747A>C (p.Lys2583Gln) c.1139A>C c.5199A>C c.2194A>C (p.Lys732Gln) c.8128A>C (p.Lys2710Gln) c.896-29688A>C c.2959A>C (p.Lys987Gln) c.8002A>C (p.Lys2668Gln) n.1931A>C c.8131A>C (p.Lys2711Gln)
2	g.73490087A>G	CA347267555	ALMS1	c.7747A>G (p.Lys2583Glu) c.1139A>G c.5199A>G c.2194A>G (p.Lys732Glu) c.8128A>G (p.Lys2710Glu) c.896-29688A>G c.2959A>G (p.Lys987Glu) c.8002A>G (p.Lys2668Glu) n.1931A>G c.8131A>G (p.Lys2711Glu)
2	g.73490087A>T	CA347267557	ALMS1	c.7747A>T (p.Lys2583Ter) c.1139A>T c.5199A>T c.2194A>T (p.Lys732Ter) c.8128A>T (p.Lys2710Ter) c.896-29688A>T c.2959A>T (p.Lys987Ter) c.8002A>T (p.Lys2668Ter) n.1931A>T c.8131A>T (p.Lys2711Ter)
2	g.73490088A=	CA1260981438	ALMS1	c.7748A= (p.Lys2583=) c.1140A= c.5200A= c.2195A= (p.Lys732=) c.8129A= (p.Lys2710=) c.896-29687A= c.2960A= (p.Lys987=) c.8003A= (p.Lys2668=) n.1932A= c.8132A= (p.Lys2711=)
2	g.73490088A>C	CA347267562	ALMS1	c.7748A>C (p.Lys2583Thr) c.1140A>C c.5200A>C c.2195A>C (p.Lys732Thr) c.8129A>C (p.Lys2710Thr) c.896-29687A>C c.2960A>C (p.Lys987Thr) c.8003A>C (p.Lys2668Thr) n.1932A>C c.8132A>C (p.Lys2711Thr)
2	g.73490088A>G	CA1714410	ALMS1	c.7748A>G (p.Lys2583Arg) c.1140A>G c.5200A>G c.2195A>G (p.Lys732Arg) c.8129A>G (p.Lys2710Arg) c.896-29687A>G c.2960A>G (p.Lys987Arg) c.8003A>G (p.Lys2668Arg) n.1932A>G c.8132A>G (p.Lys2711Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490088A>T	CA347267561	ALMS1	c.7748A>T (p.Lys2583Met) c.1140A>T c.5200A>T c.2195A>T (p.Lys732Met) c.8129A>T (p.Lys2710Met) c.896-29687A>T c.2960A>T (p.Lys987Met) c.8003A>T (p.Lys2668Met) n.1932A>T c.8132A>T (p.Lys2711Met)	gnomAD v4
2	g.73490089G>A	CA1714411	ALMS1	c.7749G>A (p.Lys2583=) c.1141G>A c.5201G>A c.2196G>A (p.Lys732=) c.8130G>A (p.Lys2710=) c.896-29686G>A c.2961G>A (p.Lys987=) c.8004G>A (p.Lys2668=) n.1933G>A c.8133G>A (p.Lys2711=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490089G>C	CA347267566	ALMS1	c.7749G>C (p.Lys2583Asn) c.1141G>C c.5201G>C c.2196G>C (p.Lys732Asn) c.8130G>C (p.Lys2710Asn) c.896-29686G>C c.2961G>C (p.Lys987Asn) c.8004G>C (p.Lys2668Asn) n.1933G>C c.8133G>C (p.Lys2711Asn)
2	g.73490089G=	CA1260981445	ALMS1	c.7749G= (p.Lys2583=) c.1141G= c.5201G= c.2196G= (p.Lys732=) c.8130G= (p.Lys2710=) c.896-29686G= c.2961G= (p.Lys987=) c.8004G= (p.Lys2668=) n.1933G= c.8133G= (p.Lys2711=)
2	g.73490089G>T	CA347267568	ALMS1	c.7749G>T (p.Lys2583Asn) c.1141G>T c.5201G>T c.2196G>T (p.Lys732Asn) c.8130G>T (p.Lys2710Asn) c.896-29686G>T c.2961G>T (p.Lys987Asn) c.8004G>T (p.Lys2668Asn) n.1933G>T c.8133G>T (p.Lys2711Asn)
2	g.73490089_73490090del	CA913090804	ALMS1	c.7749_7750del (p.Lys2583AsnfsTer14) c.1141_1142del c.5201_5202del c.2196_2197del (p.Lys732AsnfsTer14) c.8130_8131del (p.Lys2710AsnfsTer14) c.896-29686_896-29685del c.2961_2962del (p.Lys987AsnfsTer14) c.8004_8005del (p.Lys2668AsnfsTer14) n.1933_1934del c.8133_8134del (p.Lys2711AsnfsTer14)
2	g.73490089_73490090delinsGT	CA1260981444	ALMS1	c.7749_7750delinsGT (p.Lys2583=) c.1141_1142delinsGT c.5201_5202delinsGT c.2196_2197delinsGT (p.Lys732=) c.8130_8131delinsGT (p.Lys2710=) c.896-29686_896-29685delinsGT c.2961_2962delinsGT (p.Lys987=) c.8004_8005delinsGT (p.Lys2668=) n.1933_1934delinsGT c.8133_8134delinsGT (p.Lys2711=)

Number of alleles fetched