Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
2	g.73490090T>A	CA347267574	ALMS1	c.7750T>A (p.Phe2584Ile) c.1142T>A c.5202T>A c.2197T>A (p.Phe733Ile) c.8131T>A (p.Phe2711Ile) c.896-29685T>A c.2962T>A (p.Phe988Ile) c.8005T>A (p.Phe2669Ile) n.1934T>A c.8134T>A (p.Phe2712Ile)
2	g.73490090T>C	CA50378099	ALMS1	c.7750T>C (p.Phe2584Leu) c.1142T>C c.5202T>C c.2197T>C (p.Phe733Leu) c.8131T>C (p.Phe2711Leu) c.896-29685T>C c.2962T>C (p.Phe988Leu) c.8005T>C (p.Phe2669Leu) n.1934T>C c.8134T>C (p.Phe2712Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490090T>G	CA347267577	ALMS1	c.7750T>G (p.Phe2584Val) c.1142T>G c.5202T>G c.2197T>G (p.Phe733Val) c.8131T>G (p.Phe2711Val) c.896-29685T>G c.2962T>G (p.Phe988Val) c.8005T>G (p.Phe2669Val) n.1934T>G c.8134T>G (p.Phe2712Val)
2	g.73490090T=	CA1260981452	ALMS1	c.7750T= (p.Phe2584=) c.1142T= c.5202T= c.2197T= (p.Phe733=) c.8131T= (p.Phe2711=) c.896-29685T= c.2962T= (p.Phe988=) c.8005T= (p.Phe2669=) n.1934T= c.8134T= (p.Phe2712=)
2	g.73490092dup	CA2750465615	ALMS1	c.7752dup (p.Thr2585TyrfsTer13) c.1144dup c.5204dup c.2199dup (p.Thr734TyrfsTer13) c.8133dup (p.Thr2712TyrfsTer13) c.896-29683dup c.2964dup (p.Thr989TyrfsTer13) c.8007dup (p.Thr2670TyrfsTer13) n.1936dup c.8136dup (p.Thr2713TyrfsTer13)
2	g.73490092del	CA658821974	ALMS1	c.7752del (p.Phe2584LeufsTer?) c.1144del c.5204del c.2199del (p.Phe733LeufsTer?) c.8133del (p.Phe2711LeufsTer?) c.896-29683del c.2964del (p.Phe988LeufsTer?) c.8007del (p.Phe2669LeufsTer?) n.1936del c.8136del (p.Phe2712LeufsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490090_73490091insGA	CA2830535121	ALMS1	c.7750_7751insGA (p.Phe2584Ter) c.1142_1143insGA c.5202_5203insGA c.2197_2198insGA (p.Phe733Ter) c.8131_8132insGA (p.Phe2711Ter) c.896-29685_896-29684insGA c.2962_2963insGA (p.Phe988Ter) c.8005_8006insGA (p.Phe2669Ter) n.1934_1935insGA c.8134_8135insGA (p.Phe2712Ter)
2	g.73490091T>A	CA347267580	ALMS1	c.7751T>A (p.Phe2584Tyr) c.1143T>A c.5203T>A c.2198T>A (p.Phe733Tyr) c.8132T>A (p.Phe2711Tyr) c.896-29684T>A c.2963T>A (p.Phe988Tyr) c.8006T>A (p.Phe2669Tyr) n.1935T>A c.8135T>A (p.Phe2712Tyr)	gnomAD v4
2	g.73490091T>C	CA347267581	ALMS1	c.7751T>C (p.Phe2584Ser) c.1143T>C c.5203T>C c.2198T>C (p.Phe733Ser) c.8132T>C (p.Phe2711Ser) c.896-29684T>C c.2963T>C (p.Phe988Ser) c.8006T>C (p.Phe2669Ser) n.1935T>C c.8135T>C (p.Phe2712Ser)
2	g.73490091T>G	CA347267582	ALMS1	c.7751T>G (p.Phe2584Cys) c.1143T>G c.5203T>G c.2198T>G (p.Phe733Cys) c.8132T>G (p.Phe2711Cys) c.896-29684T>G c.2963T>G (p.Phe988Cys) c.8006T>G (p.Phe2669Cys) n.1935T>G c.8135T>G (p.Phe2712Cys)
2	g.73490091_73490092insGGAGG	CA2830535124	ALMS1	c.7751_7752insGGAGG (p.Phe2584LeufsTer?) c.1143_1144insGGAGG c.5203_5204insGGAGG c.2198_2199insGGAGG (p.Phe733LeufsTer?) c.8132_8133insGGAGG (p.Phe2711LeufsTer?) c.896-29684_896-29683insGGAGG c.2963_2964insGGAGG (p.Phe988LeufsTer?) c.8006_8007insGGAGG (p.Phe2669LeufsTer?) n.1935_1936insGGAGG c.8135_8136insGGAGG (p.Phe2712LeufsTer?)
2	g.73490092T>A	CA347267583	ALMS1	c.7752T>A (p.Phe2584Leu) c.1144T>A c.5204T>A c.2199T>A (p.Phe733Leu) c.8133T>A (p.Phe2711Leu) c.896-29683T>A c.2964T>A (p.Phe988Leu) c.8007T>A (p.Phe2669Leu) n.1936T>A c.8136T>A (p.Phe2712Leu)
2	g.73490092T>C	CA427000903	ALMS1	c.7752T>C (p.Phe2584=) c.1144T>C c.5204T>C c.2199T>C (p.Phe733=) c.8133T>C (p.Phe2711=) c.896-29683T>C c.2964T>C (p.Phe988=) c.8007T>C (p.Phe2669=) n.1936T>C c.8136T>C (p.Phe2712=)
2	g.73490092T>G	CA347267584	ALMS1	c.7752T>G (p.Phe2584Leu) c.1144T>G c.5204T>G c.2199T>G (p.Phe733Leu) c.8133T>G (p.Phe2711Leu) c.896-29683T>G c.2964T>G (p.Phe988Leu) c.8007T>G (p.Phe2669Leu) n.1936T>G c.8136T>G (p.Phe2712Leu)
2	g.73490093A=	CA1260981455	ALMS1	c.7753A= (p.Thr2585=) c.1145A= c.5205A= c.2200A= (p.Thr734=) c.8134A= (p.Thr2712=) c.896-29682A= c.2965A= (p.Thr989=) c.8008A= (p.Thr2670=) n.1937A= c.8137A= (p.Thr2713=)
2	g.73490093A>C	CA347267588	ALMS1	c.7753A>C (p.Thr2585Pro) c.1145A>C c.5205A>C c.2200A>C (p.Thr734Pro) c.8134A>C (p.Thr2712Pro) c.896-29682A>C c.2965A>C (p.Thr989Pro) c.8008A>C (p.Thr2670Pro) n.1937A>C c.8137A>C (p.Thr2713Pro)
2	g.73490093A>G	CA1714412	ALMS1	c.7753A>G (p.Thr2585Ala) c.1145A>G c.5205A>G c.2200A>G (p.Thr734Ala) c.8134A>G (p.Thr2712Ala) c.896-29682A>G c.2965A>G (p.Thr989Ala) c.8008A>G (p.Thr2670Ala) n.1937A>G c.8137A>G (p.Thr2713Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490093A>T	CA347267586	ALMS1	c.7753A>T (p.Thr2585Ser) c.1145A>T c.5205A>T c.2200A>T (p.Thr734Ser) c.8134A>T (p.Thr2712Ser) c.896-29682A>T c.2965A>T (p.Thr989Ser) c.8008A>T (p.Thr2670Ser) n.1937A>T c.8137A>T (p.Thr2713Ser)
2	g.73490094C>A	CA347267603	ALMS1	c.7754C>A (p.Thr2585Asn) c.1146C>A c.5206C>A c.2201C>A (p.Thr734Asn) c.8135C>A (p.Thr2712Asn) c.896-29681C>A c.2966C>A (p.Thr989Asn) c.8009C>A (p.Thr2670Asn) n.1938C>A c.8138C>A (p.Thr2713Asn)
2	g.73490094C>G	CA347267592	ALMS1	c.7754C>G (p.Thr2585Ser) c.1146C>G c.5206C>G c.2201C>G (p.Thr734Ser) c.8135C>G (p.Thr2712Ser) c.896-29681C>G c.2966C>G (p.Thr989Ser) c.8009C>G (p.Thr2670Ser) n.1938C>G c.8138C>G (p.Thr2713Ser)	dbSNP gnomAD v4
2	g.73490094C>T	CA347267600	ALMS1	c.7754C>T (p.Thr2585Ile) c.1146C>T c.5206C>T c.2201C>T (p.Thr734Ile) c.8135C>T (p.Thr2712Ile) c.896-29681C>T c.2966C>T (p.Thr989Ile) c.8009C>T (p.Thr2670Ile) n.1938C>T c.8138C>T (p.Thr2713Ile)	ClinVar
2	g.73490095T>A	CA427000911	ALMS1	c.7755T>A (p.Thr2585=) c.1147T>A c.5207T>A c.2202T>A (p.Thr734=) c.8136T>A (p.Thr2712=) c.896-29680T>A c.2967T>A (p.Thr989=) c.8010T>A (p.Thr2670=) n.1939T>A c.8139T>A (p.Thr2713=)	gnomAD v4
2	g.73490095T>C	CA427000913	ALMS1	c.7755T>C (p.Thr2585=) c.1147T>C c.5207T>C c.2202T>C (p.Thr734=) c.8136T>C (p.Thr2712=) c.896-29680T>C c.2967T>C (p.Thr989=) c.8010T>C (p.Thr2670=) n.1939T>C c.8139T>C (p.Thr2713=)
2	g.73490095T>G	CA427000914	ALMS1	c.7755T>G (p.Thr2585=) c.1147T>G c.5207T>G c.2202T>G (p.Thr734=) c.8136T>G (p.Thr2712=) c.896-29680T>G c.2967T>G (p.Thr989=) c.8010T>G (p.Thr2670=) n.1939T>G c.8139T>G (p.Thr2713=)
2	g.73490096A=	CA1260981458	ALMS1	c.7756A= (p.Thr2586=) c.1148A= c.5208A= c.2203A= (p.Thr735=) c.8137A= (p.Thr2713=) c.896-29679A= c.2968A= (p.Thr990=) c.8011A= (p.Thr2671=) n.1940A= c.8140A= (p.Thr2714=)
2	g.73490096A>C	CA347267607	ALMS1	c.7756A>C (p.Thr2586Pro) c.1148A>C c.5208A>C c.2203A>C (p.Thr735Pro) c.8137A>C (p.Thr2713Pro) c.896-29679A>C c.2968A>C (p.Thr990Pro) c.8011A>C (p.Thr2671Pro) n.1940A>C c.8140A>C (p.Thr2714Pro)
2	g.73490096A>G	CA1714413	ALMS1	c.7756A>G (p.Thr2586Ala) c.1148A>G c.5208A>G c.2203A>G (p.Thr735Ala) c.8137A>G (p.Thr2713Ala) c.896-29679A>G c.2968A>G (p.Thr990Ala) c.8011A>G (p.Thr2671Ala) n.1940A>G c.8140A>G (p.Thr2714Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490096A>T	CA347267621	ALMS1	c.7756A>T (p.Thr2586Ser) c.1148A>T c.5208A>T c.2203A>T (p.Thr735Ser) c.8137A>T (p.Thr2713Ser) c.896-29679A>T c.2968A>T (p.Thr990Ser) c.8011A>T (p.Thr2671Ser) n.1940A>T c.8140A>T (p.Thr2714Ser)
2	g.73490098_73490106del	CA913090805	ALMS1	c.7758_7766del (p.Ser2587_Thr2589del) c.1150_1158del c.5210_5218del c.2205_2213del (p.Ser736_Thr738del) c.8139_8147del (p.Ser2714_Thr2716del) c.896-29677_896-29669del c.2970_2978del (p.Ser991_Thr993del) c.8013_8021del (p.Ser2672_Thr2674del) n.1942_1950del c.8142_8150del (p.Ser2715_Thr2717del)
2	g.73490097C>A	CA347267628	ALMS1	c.7757C>A (p.Thr2586Asn) c.1149C>A c.5209C>A c.2204C>A (p.Thr735Asn) c.8138C>A (p.Thr2713Asn) c.896-29678C>A c.2969C>A (p.Thr990Asn) c.8012C>A (p.Thr2671Asn) n.1941C>A c.8141C>A (p.Thr2714Asn)
2	g.73490097C=	CA1260981463	ALMS1	c.7757C= (p.Thr2586=) c.1149C= c.5209C= c.2204C= (p.Thr735=) c.8138C= (p.Thr2713=) c.896-29678C= c.2969C= (p.Thr990=) c.8012C= (p.Thr2671=) n.1941C= c.8141C= (p.Thr2714=)
2	g.73490097C>G	CA347267627	ALMS1	c.7757C>G (p.Thr2586Ser) c.1149C>G c.5209C>G c.2204C>G (p.Thr735Ser) c.8138C>G (p.Thr2713Ser) c.896-29678C>G c.2969C>G (p.Thr990Ser) c.8012C>G (p.Thr2671Ser) n.1941C>G c.8141C>G (p.Thr2714Ser)
2	g.73490097C>T	CA347267624	ALMS1	c.7757C>T (p.Thr2586Ile) c.1149C>T c.5209C>T c.2204C>T (p.Thr735Ile) c.8138C>T (p.Thr2713Ile) c.896-29678C>T c.2969C>T (p.Thr990Ile) c.8012C>T (p.Thr2671Ile) n.1941C>T c.8141C>T (p.Thr2714Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490097_73490101del	CA2830535128	ALMS1	c.7757_7761del (p.Thr2586AsnfsTer10) c.1149_1153del c.5209_5213del c.2204_2208del (p.Thr735AsnfsTer10) c.8138_8142del (p.Thr2713AsnfsTer10) c.896-29678_896-29674del c.2969_2973del (p.Thr990AsnfsTer10) c.8012_8016del (p.Thr2671AsnfsTer10) n.1941_1945del c.8141_8145del (p.Thr2714AsnfsTer10)
2	g.73490097_73490105delinsCCTCCATCA	CA1260981461	ALMS1	c.7757_7765delinsCCTCCATCA (p.Thr2586=) c.1149_1157delinsCCTCCATCA c.5209_5217delinsCCTCCATCA c.2204_2212delinsCCTCCATCA (p.Thr735=) c.8138_8146delinsCCTCCATCA (p.Thr2713=) c.896-29678_896-29670delinsCCTCCATCA c.2969_2977delinsCCTCCATCA (p.Thr990=) c.8012_8020delinsCCTCCATCA (p.Thr2671=) n.1941_1949delinsCCTCCATCA c.8141_8149delinsCCTCCATCA (p.Thr2714=)
2	g.73490098C>A	CA427000922	ALMS1	c.7758C>A (p.Thr2586=) c.1150C>A c.5210C>A c.2205C>A (p.Thr735=) c.8139C>A (p.Thr2713=) c.896-29677C>A c.2970C>A (p.Thr990=) c.8013C>A (p.Thr2671=) n.1942C>A c.8142C>A (p.Thr2714=)
2	g.73490098C>G	CA427000920	ALMS1	c.7758C>G (p.Thr2586=) c.1150C>G c.5210C>G c.2205C>G (p.Thr735=) c.8139C>G (p.Thr2713=) c.896-29677C>G c.2970C>G (p.Thr990=) c.8013C>G (p.Thr2671=) n.1942C>G c.8142C>G (p.Thr2714=)
2	g.73490098C>T	CA427000921	ALMS1	c.7758C>T (p.Thr2586=) c.1150C>T c.5210C>T c.2205C>T (p.Thr735=) c.8139C>T (p.Thr2713=) c.896-29677C>T c.2970C>T (p.Thr990=) c.8013C>T (p.Thr2671=) n.1942C>T c.8142C>T (p.Thr2714=)	ClinVar dbSNP
2	g.73490100_73490107del	CA658821975	ALMS1	c.7760_7767del (p.Ser2587PhefsTer8) c.1152_1159del c.5212_5219del c.2207_2214del (p.Ser736PhefsTer8) c.8141_8148del (p.Ser2714PhefsTer8) c.896-29675_896-29668del c.2972_2979del (p.Ser991PhefsTer8) c.8015_8022del (p.Ser2672PhefsTer8) n.1944_1951del c.8144_8151del (p.Ser2715PhefsTer8)	ClinVar dbSNP
2	g.73490099T>A	CA347267631	ALMS1	c.7759T>A (p.Ser2587Thr) c.1151T>A c.5211T>A c.2206T>A (p.Ser736Thr) c.8140T>A (p.Ser2714Thr) c.896-29676T>A c.2971T>A (p.Ser991Thr) c.8014T>A (p.Ser2672Thr) n.1943T>A c.8143T>A (p.Ser2715Thr)	gnomAD v4
2	g.73490099T>C	CA347267633	ALMS1	c.7759T>C (p.Ser2587Pro) c.1151T>C c.5211T>C c.2206T>C (p.Ser736Pro) c.8140T>C (p.Ser2714Pro) c.896-29676T>C c.2971T>C (p.Ser991Pro) c.8014T>C (p.Ser2672Pro) n.1943T>C c.8143T>C (p.Ser2715Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490099T>G	CA347267635	ALMS1	c.7759T>G (p.Ser2587Ala) c.1151T>G c.5211T>G c.2206T>G (p.Ser736Ala) c.8140T>G (p.Ser2714Ala) c.896-29676T>G c.2971T>G (p.Ser991Ala) c.8014T>G (p.Ser2672Ala) n.1943T>G c.8143T>G (p.Ser2715Ala)
2	g.73490099T=	CA1260981470	ALMS1	c.7759T= (p.Ser2587=) c.1151T= c.5211T= c.2206T= (p.Ser736=) c.8140T= (p.Ser2714=) c.896-29676T= c.2971T= (p.Ser991=) c.8014T= (p.Ser2672=) n.1943T= c.8143T= (p.Ser2715=)
2	g.73490100C>A	CA347267637	ALMS1	c.7760C>A (p.Ser2587Tyr) c.1152C>A c.5212C>A c.2207C>A (p.Ser736Tyr) c.8141C>A (p.Ser2714Tyr) c.896-29675C>A c.2972C>A (p.Ser991Tyr) c.8015C>A (p.Ser2672Tyr) n.1944C>A c.8144C>A (p.Ser2715Tyr)
2	g.73490100C>G	CA347267640	ALMS1	c.7760C>G (p.Ser2587Cys) c.1152C>G c.5212C>G c.2207C>G (p.Ser736Cys) c.8141C>G (p.Ser2714Cys) c.896-29675C>G c.2972C>G (p.Ser991Cys) c.8015C>G (p.Ser2672Cys) n.1944C>G c.8144C>G (p.Ser2715Cys)
2	g.73490100C>T	CA347267642	ALMS1	c.7760C>T (p.Ser2587Phe) c.1152C>T c.5212C>T c.2207C>T (p.Ser736Phe) c.8141C>T (p.Ser2714Phe) c.896-29675C>T c.2972C>T (p.Ser991Phe) c.8015C>T (p.Ser2672Phe) n.1944C>T c.8144C>T (p.Ser2715Phe)
2	g.73490101C>A	CA427000943	ALMS1	c.7761C>A (p.Ser2587=) c.1153C>A c.5213C>A c.2208C>A (p.Ser736=) c.8142C>A (p.Ser2714=) c.896-29674C>A c.2973C>A (p.Ser991=) c.8016C>A (p.Ser2672=) n.1945C>A c.8145C>A (p.Ser2715=)
2	g.73490101C=	CA1260981474	ALMS1	c.7761C= (p.Ser2587=) c.1153C= c.5213C= c.2208C= (p.Ser736=) c.8142C= (p.Ser2714=) c.896-29674C= c.2973C= (p.Ser991=) c.8016C= (p.Ser2672=) n.1945C= c.8145C= (p.Ser2715=)
2	g.73490101C>G	CA427000944	ALMS1	c.7761C>G (p.Ser2587=) c.1153C>G c.5213C>G c.2208C>G (p.Ser736=) c.8142C>G (p.Ser2714=) c.896-29674C>G c.2973C>G (p.Ser991=) c.8016C>G (p.Ser2672=) n.1945C>G c.8145C>G (p.Ser2715=)	dbSNP
2	g.73490101C>T	CA427000946	ALMS1	c.7761C>T (p.Ser2587=) c.1153C>T c.5213C>T c.2208C>T (p.Ser736=) c.8142C>T (p.Ser2714=) c.896-29674C>T c.2973C>T (p.Ser991=) c.8016C>T (p.Ser2672=) n.1945C>T c.8145C>T (p.Ser2715=)	ClinVar dbSNP gnomAD v4
2	g.73490102A=	CA1260981479	ALMS1	c.7762A= (p.Ile2588=) c.1154A= c.5214A= c.2209A= (p.Ile737=) c.8143A= (p.Ile2715=) c.896-29673A= c.2974A= (p.Ile992=) c.8017A= (p.Ile2673=) n.1946A= c.8146A= (p.Ile2716=)
2	g.73490102A>C	CA347267644	ALMS1	c.7762A>C (p.Ile2588Leu) c.1154A>C c.5214A>C c.2209A>C (p.Ile737Leu) c.8143A>C (p.Ile2715Leu) c.896-29673A>C c.2974A>C (p.Ile992Leu) c.8017A>C (p.Ile2673Leu) n.1946A>C c.8146A>C (p.Ile2716Leu)
2	g.73490102A>G	CA1714414	ALMS1	c.7762A>G (p.Ile2588Val) c.1154A>G c.5214A>G c.2209A>G (p.Ile737Val) c.8143A>G (p.Ile2715Val) c.896-29673A>G c.2974A>G (p.Ile992Val) c.8017A>G (p.Ile2673Val) n.1946A>G c.8146A>G (p.Ile2716Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490102A>T	CA347267643	ALMS1	c.7762A>T (p.Ile2588Phe) c.1154A>T c.5214A>T c.2209A>T (p.Ile737Phe) c.8143A>T (p.Ile2715Phe) c.896-29673A>T c.2974A>T (p.Ile992Phe) c.8017A>T (p.Ile2673Phe) n.1946A>T c.8146A>T (p.Ile2716Phe)	gnomAD v4
2	g.73490103T>A	CA347267647	ALMS1	c.7763T>A (p.Ile2588Asn) c.1155T>A c.5215T>A c.2210T>A (p.Ile737Asn) c.8144T>A (p.Ile2715Asn) c.896-29672T>A c.2975T>A (p.Ile992Asn) c.8018T>A (p.Ile2673Asn) n.1947T>A c.8147T>A (p.Ile2716Asn)
2	g.73490103T>C	CA347267650	ALMS1	c.7763T>C (p.Ile2588Thr) c.1155T>C c.5215T>C c.2210T>C (p.Ile737Thr) c.8144T>C (p.Ile2715Thr) c.896-29672T>C c.2975T>C (p.Ile992Thr) c.8018T>C (p.Ile2673Thr) n.1947T>C c.8147T>C (p.Ile2716Thr)
2	g.73490103T>G	CA347267651	ALMS1	c.7763T>G (p.Ile2588Ser) c.1155T>G c.5215T>G c.2210T>G (p.Ile737Ser) c.8144T>G (p.Ile2715Ser) c.896-29672T>G c.2975T>G (p.Ile992Ser) c.8018T>G (p.Ile2673Ser) n.1947T>G c.8147T>G (p.Ile2716Ser)
2	g.73490103_73490104del	CA2830535129	ALMS1	c.7763_7764del (p.Ile2588AsnfsTer9) c.1155_1156del c.5215_5216del c.2210_2211del (p.Ile737AsnfsTer9) c.8144_8145del (p.Ile2715AsnfsTer9) c.896-29672_896-29671del c.2975_2976del (p.Ile992AsnfsTer9) c.8018_8019del (p.Ile2673AsnfsTer9) n.1947_1948del c.8147_8148del (p.Ile2716AsnfsTer9)
2	g.73490104C>A	CA427000954	ALMS1	c.7764C>A (p.Ile2588=) c.1156C>A c.5216C>A c.2211C>A (p.Ile737=) c.8145C>A (p.Ile2715=) c.896-29671C>A c.2976C>A (p.Ile992=) c.8019C>A (p.Ile2673=) n.1948C>A c.8148C>A (p.Ile2716=)
2	g.73490104C>G	CA347267653	ALMS1	c.7764C>G (p.Ile2588Met) c.1156C>G c.5216C>G c.2211C>G (p.Ile737Met) c.8145C>G (p.Ile2715Met) c.896-29671C>G c.2976C>G (p.Ile992Met) c.8019C>G (p.Ile2673Met) n.1948C>G c.8148C>G (p.Ile2716Met)
2	g.73490104C>T	CA427000953	ALMS1	c.7764C>T (p.Ile2588=) c.1156C>T c.5216C>T c.2211C>T (p.Ile737=) c.8145C>T (p.Ile2715=) c.896-29671C>T c.2976C>T (p.Ile992=) c.8019C>T (p.Ile2673=) n.1948C>T c.8148C>T (p.Ile2716=)
2	g.73490105A=	CA1260981484	ALMS1	c.7765A= (p.Thr2589=) c.1157A= c.5217A= c.2212A= (p.Thr738=) c.8146A= (p.Thr2716=) c.896-29670A= c.2977A= (p.Thr993=) c.8020A= (p.Thr2674=) n.1949A= c.8149A= (p.Thr2717=)
2	g.73490105A>C	CA347267655	ALMS1	c.7765A>C (p.Thr2589Pro) c.1157A>C c.5217A>C c.2212A>C (p.Thr738Pro) c.8146A>C (p.Thr2716Pro) c.896-29670A>C c.2977A>C (p.Thr993Pro) c.8020A>C (p.Thr2674Pro) n.1949A>C c.8149A>C (p.Thr2717Pro)	ClinVar dbSNP
2	g.73490105A>G	CA347267656	ALMS1	c.7765A>G (p.Thr2589Ala) c.1157A>G c.5217A>G c.2212A>G (p.Thr738Ala) c.8146A>G (p.Thr2716Ala) c.896-29670A>G c.2977A>G (p.Thr993Ala) c.8020A>G (p.Thr2674Ala) n.1949A>G c.8149A>G (p.Thr2717Ala)
2	g.73490105A>T	CA347267657	ALMS1	c.7765A>T (p.Thr2589Ser) c.1157A>T c.5217A>T c.2212A>T (p.Thr738Ser) c.8146A>T (p.Thr2716Ser) c.896-29670A>T c.2977A>T (p.Thr993Ser) c.8020A>T (p.Thr2674Ser) n.1949A>T c.8149A>T (p.Thr2717Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.73490106C>A	CA347267660	ALMS1	c.7766C>A (p.Thr2589Asn) c.1158C>A c.5218C>A c.2213C>A (p.Thr738Asn) c.8147C>A (p.Thr2716Asn) c.896-29669C>A c.2978C>A (p.Thr993Asn) c.8021C>A (p.Thr2674Asn) n.1950C>A c.8150C>A (p.Thr2717Asn)
2	g.73490106C=	CA1260981487	ALMS1	c.7766C= (p.Thr2589=) c.1158C= c.5218C= c.2213C= (p.Thr738=) c.8147C= (p.Thr2716=) c.896-29669C= c.2978C= (p.Thr993=) c.8021C= (p.Thr2674=) n.1950C= c.8150C= (p.Thr2717=)
2	g.73490106C>G	CA347267662	ALMS1	c.7766C>G (p.Thr2589Ser) c.1158C>G c.5218C>G c.2213C>G (p.Thr738Ser) c.8147C>G (p.Thr2716Ser) c.896-29669C>G c.2978C>G (p.Thr993Ser) c.8021C>G (p.Thr2674Ser) n.1950C>G c.8150C>G (p.Thr2717Ser)
2	g.73490106C>T	CA347267663	ALMS1	c.7766C>T (p.Thr2589Ile) c.1158C>T c.5218C>T c.2213C>T (p.Thr738Ile) c.8147C>T (p.Thr2716Ile) c.896-29669C>T c.2978C>T (p.Thr993Ile) c.8021C>T (p.Thr2674Ile) n.1950C>T c.8150C>T (p.Thr2717Ile)	gnomAD v4
2	g.73490106dup	CA913090806	ALMS1	c.7766dup (p.Ser2591PhefsTer7) c.1158dup c.5218dup c.2213dup (p.Ser740PhefsTer7) c.8147dup (p.Ser2718PhefsTer7) c.896-29669dup c.2978dup (p.Ser995PhefsTer7) c.8021dup (p.Ser2676PhefsTer7) n.1950dup c.8150dup (p.Ser2719PhefsTer7)
2	g.73490107T>A	CA427000961	ALMS1	c.7767T>A (p.Thr2589=) c.1159T>A c.5219T>A c.2214T>A (p.Thr738=) c.8148T>A (p.Thr2716=) c.896-29668T>A c.2979T>A (p.Thr993=) c.8022T>A (p.Thr2674=) n.1951T>A c.8151T>A (p.Thr2717=)
2	g.73490107T>C	CA427000962	ALMS1	c.7767T>C (p.Thr2589=) c.1159T>C c.5219T>C c.2214T>C (p.Thr738=) c.8148T>C (p.Thr2716=) c.896-29668T>C c.2979T>C (p.Thr993=) c.8022T>C (p.Thr2674=) n.1951T>C c.8151T>C (p.Thr2717=)
2	g.73490107T>G	CA427000964	ALMS1	c.7767T>G (p.Thr2589=) c.1159T>G c.5219T>G c.2214T>G (p.Thr738=) c.8148T>G (p.Thr2716=) c.896-29668T>G c.2979T>G (p.Thr993=) c.8022T>G (p.Thr2674=) n.1951T>G c.8151T>G (p.Thr2717=)
2	g.73490111dup	CA658821976	ALMS1	c.7771dup (p.Ser2591PhefsTer7) c.1163dup c.5223dup c.2218dup (p.Ser740PhefsTer7) c.8152dup (p.Ser2718PhefsTer7) c.896-29664dup c.2983dup (p.Ser995PhefsTer7) c.8026dup (p.Ser2676PhefsTer7) n.1955dup c.8155dup (p.Ser2719PhefsTer7)	ClinVar dbSNP
2	g.73490110_73490111del	CA2580068236	ALMS1	c.7770_7771del (p.Ser2591IlefsTer6) c.1162_1163del c.5222_5223del c.2217_2218del (p.Ser740IlefsTer6) c.8151_8152del (p.Ser2718IlefsTer6) c.896-29665_896-29664del c.2982_2983del (p.Ser995IlefsTer6) c.8025_8026del (p.Ser2676IlefsTer6) n.1954_1955del c.8154_8155del (p.Ser2719IlefsTer6)	ClinVar
2	g.73490108T>A	CA347267665	ALMS1	c.7768T>A (p.Phe2590Ile) c.1160T>A c.5220T>A c.2215T>A (p.Phe739Ile) c.8149T>A (p.Phe2717Ile) c.896-29667T>A c.2980T>A (p.Phe994Ile) c.8023T>A (p.Phe2675Ile) n.1952T>A c.8152T>A (p.Phe2718Ile)
2	g.73490108T>C	CA347267667	ALMS1	c.7768T>C (p.Phe2590Leu) c.1160T>C c.5220T>C c.2215T>C (p.Phe739Leu) c.8149T>C (p.Phe2717Leu) c.896-29667T>C c.2980T>C (p.Phe994Leu) c.8023T>C (p.Phe2675Leu) n.1952T>C c.8152T>C (p.Phe2718Leu)
2	g.73490108T>G	CA347267669	ALMS1	c.7768T>G (p.Phe2590Val) c.1160T>G c.5220T>G c.2215T>G (p.Phe739Val) c.8149T>G (p.Phe2717Val) c.896-29667T>G c.2980T>G (p.Phe994Val) c.8023T>G (p.Phe2675Val) n.1952T>G c.8152T>G (p.Phe2718Val)	gnomAD v4
2	g.73490109T>A	CA347267670	ALMS1	c.7769T>A (p.Phe2590Tyr) c.1161T>A c.5221T>A c.2216T>A (p.Phe739Tyr) c.8150T>A (p.Phe2717Tyr) c.896-29666T>A c.2981T>A (p.Phe994Tyr) c.8024T>A (p.Phe2675Tyr) n.1953T>A c.8153T>A (p.Phe2718Tyr)
2	g.73490109T>C	CA347267673	ALMS1	c.7769T>C (p.Phe2590Ser) c.1161T>C c.5221T>C c.2216T>C (p.Phe739Ser) c.8150T>C (p.Phe2717Ser) c.896-29666T>C c.2981T>C (p.Phe994Ser) c.8024T>C (p.Phe2675Ser) n.1953T>C c.8153T>C (p.Phe2718Ser)
2	g.73490109T>G	CA347267672	ALMS1	c.7769T>G (p.Phe2590Cys) c.1161T>G c.5221T>G c.2216T>G (p.Phe739Cys) c.8150T>G (p.Phe2717Cys) c.896-29666T>G c.2981T>G (p.Phe994Cys) c.8024T>G (p.Phe2675Cys) n.1953T>G c.8153T>G (p.Phe2718Cys)	ClinVar
2	g.73490110T>A	CA347267675	ALMS1	c.7770T>A (p.Phe2590Leu) c.1162T>A c.5222T>A c.2217T>A (p.Phe739Leu) c.8151T>A (p.Phe2717Leu) c.896-29665T>A c.2982T>A (p.Phe994Leu) c.8025T>A (p.Phe2675Leu) n.1954T>A c.8154T>A (p.Phe2718Leu)
2	g.73490110T>C	CA427000972	ALMS1	c.7770T>C (p.Phe2590=) c.1162T>C c.5222T>C c.2217T>C (p.Phe739=) c.8151T>C (p.Phe2717=) c.896-29665T>C c.2982T>C (p.Phe994=) c.8025T>C (p.Phe2675=) n.1954T>C c.8154T>C (p.Phe2718=)
2	g.73490110T>G	CA347267676	ALMS1	c.7770T>G (p.Phe2590Leu) c.1162T>G c.5222T>G c.2217T>G (p.Phe739Leu) c.8151T>G (p.Phe2717Leu) c.896-29665T>G c.2982T>G (p.Phe994Leu) c.8025T>G (p.Phe2675Leu) n.1954T>G c.8154T>G (p.Phe2718Leu)
2	g.73490111T>A	CA347267677	ALMS1	c.7771T>A (p.Ser2591Thr) c.1163T>A c.5223T>A c.2218T>A (p.Ser740Thr) c.8152T>A (p.Ser2718Thr) c.896-29664T>A c.2983T>A (p.Ser995Thr) c.8026T>A (p.Ser2676Thr) n.1955T>A c.8155T>A (p.Ser2719Thr)
2	g.73490111T>C	CA50378139	ALMS1	c.7771T>C (p.Ser2591Pro) c.1163T>C c.5223T>C c.2218T>C (p.Ser740Pro) c.8152T>C (p.Ser2718Pro) c.896-29664T>C c.2983T>C (p.Ser995Pro) c.8026T>C (p.Ser2676Pro) n.1955T>C c.8155T>C (p.Ser2719Pro)	ClinVar dbSNP
2	g.73490111T>G	CA347267681	ALMS1	c.7771T>G (p.Ser2591Ala) c.1163T>G c.5223T>G c.2218T>G (p.Ser740Ala) c.8152T>G (p.Ser2718Ala) c.896-29664T>G c.2983T>G (p.Ser995Ala) c.8026T>G (p.Ser2676Ala) n.1955T>G c.8155T>G (p.Ser2719Ala)	gnomAD v4
2	g.73490111T=	CA1260981498	ALMS1	c.7771T= (p.Ser2591=) c.1163T= c.5223T= c.2218T= (p.Ser740=) c.8152T= (p.Ser2718=) c.896-29664T= c.2983T= (p.Ser995=) c.8026T= (p.Ser2676=) n.1955T= c.8155T= (p.Ser2719=)
2	g.73490112C>A	CA347267686	ALMS1	c.7772C>A (p.Ser2591Ter) c.1164C>A c.5224C>A c.2219C>A (p.Ser740Ter) c.8153C>A (p.Ser2718Ter) c.896-29663C>A c.2984C>A (p.Ser995Ter) c.8027C>A (p.Ser2676Ter) n.1956C>A c.8156C>A (p.Ser2719Ter)	ClinVar
2	g.73490112C>G	CA347267684	ALMS1	c.7772C>G (p.Ser2591Ter) c.1164C>G c.5224C>G c.2219C>G (p.Ser740Ter) c.8153C>G (p.Ser2718Ter) c.896-29663C>G c.2984C>G (p.Ser995Ter) c.8027C>G (p.Ser2676Ter) n.1956C>G c.8156C>G (p.Ser2719Ter)
2	g.73490112C>T	CA347267682	ALMS1	c.7772C>T (p.Ser2591Leu) c.1164C>T c.5224C>T c.2219C>T (p.Ser740Leu) c.8153C>T (p.Ser2718Leu) c.896-29663C>T c.2984C>T (p.Ser995Leu) c.8027C>T (p.Ser2676Leu) n.1956C>T c.8156C>T (p.Ser2719Leu)
2	g.73490113A>C	CA427000981	ALMS1	c.7773A>C (p.Ser2591=) c.1165A>C c.5225A>C c.2220A>C (p.Ser740=) c.8154A>C (p.Ser2718=) c.896-29662A>C c.2985A>C (p.Ser995=) c.8028A>C (p.Ser2676=) n.1957A>C c.8157A>C (p.Ser2719=)
2	g.73490113A>G	CA427000983	ALMS1	c.7773A>G (p.Ser2591=) c.1165A>G c.5225A>G c.2220A>G (p.Ser740=) c.8154A>G (p.Ser2718=) c.896-29662A>G c.2985A>G (p.Ser995=) c.8028A>G (p.Ser2676=) n.1957A>G c.8157A>G (p.Ser2719=)	ClinVar gnomAD v4
2	g.73490113A>T	CA427000984	ALMS1	c.7773A>T (p.Ser2591=) c.1165A>T c.5225A>T c.2220A>T (p.Ser740=) c.8154A>T (p.Ser2718=) c.896-29662A>T c.2985A>T (p.Ser995=) c.8028A>T (p.Ser2676=) n.1957A>T c.8157A>T (p.Ser2719=)
2	g.73490114T>A	CA347267687	ALMS1	c.7774T>A (p.Ser2592Thr) c.1166T>A c.5226T>A c.2221T>A (p.Ser741Thr) c.8155T>A (p.Ser2719Thr) c.896-29661T>A c.2986T>A (p.Ser996Thr) c.8029T>A (p.Ser2677Thr) n.1958T>A c.8158T>A (p.Ser2720Thr)
2	g.73490114T>C	CA347267689	ALMS1	c.7774T>C (p.Ser2592Pro) c.1166T>C c.5226T>C c.2221T>C (p.Ser741Pro) c.8155T>C (p.Ser2719Pro) c.896-29661T>C c.2986T>C (p.Ser996Pro) c.8029T>C (p.Ser2677Pro) n.1958T>C c.8158T>C (p.Ser2720Pro)	gnomAD v4
2	g.73490114T>G	CA347267690	ALMS1	c.7774T>G (p.Ser2592Ala) c.1166T>G c.5226T>G c.2221T>G (p.Ser741Ala) c.8155T>G (p.Ser2719Ala) c.896-29661T>G c.2986T>G (p.Ser996Ala) c.8029T>G (p.Ser2677Ala) n.1958T>G c.8158T>G (p.Ser2720Ala)
2	g.73490115C>A	CA347267691	ALMS1	c.7775C>A (p.Ser2592Tyr) c.1167C>A c.5227C>A c.2222C>A (p.Ser741Tyr) c.8156C>A (p.Ser2719Tyr) c.896-29660C>A c.2987C>A (p.Ser996Tyr) c.8030C>A (p.Ser2677Tyr) n.1959C>A c.8159C>A (p.Ser2720Tyr)
2	g.73490115C=	CA1260981500	ALMS1	c.7775C= (p.Ser2592=) c.1167C= c.5227C= c.2222C= (p.Ser741=) c.8156C= (p.Ser2719=) c.896-29660C= c.2987C= (p.Ser996=) c.8030C= (p.Ser2677=) n.1959C= c.8159C= (p.Ser2720=)
2	g.73490115C>G	CA347267693	ALMS1	c.7775C>G (p.Ser2592Cys) c.1167C>G c.5227C>G c.2222C>G (p.Ser741Cys) c.8156C>G (p.Ser2719Cys) c.896-29660C>G c.2987C>G (p.Ser996Cys) c.8030C>G (p.Ser2677Cys) n.1959C>G c.8159C>G (p.Ser2720Cys)	ClinVar dbSNP gnomAD v4
2	g.73490115C>T	CA347267695	ALMS1	c.7775C>T (p.Ser2592Phe) c.1167C>T c.5227C>T c.2222C>T (p.Ser741Phe) c.8156C>T (p.Ser2719Phe) c.896-29660C>T c.2987C>T (p.Ser996Phe) c.8030C>T (p.Ser2677Phe) n.1959C>T c.8159C>T (p.Ser2720Phe)	gnomAD v4
2	g.73490116T>A	CA427000991	ALMS1	c.7776T>A (p.Ser2592=) c.1168T>A c.5228T>A c.2223T>A (p.Ser741=) c.8157T>A (p.Ser2719=) c.896-29659T>A c.2988T>A (p.Ser996=) c.8031T>A (p.Ser2677=) n.1960T>A c.8160T>A (p.Ser2720=)
2	g.73490116T>C	CA427000993	ALMS1	c.7776T>C (p.Ser2592=) c.1168T>C c.5228T>C c.2223T>C (p.Ser741=) c.8157T>C (p.Ser2719=) c.896-29659T>C c.2988T>C (p.Ser996=) c.8031T>C (p.Ser2677=) n.1960T>C c.8160T>C (p.Ser2720=)
2	g.73490116T>G	CA427000995	ALMS1	c.7776T>G (p.Ser2592=) c.1168T>G c.5228T>G c.2223T>G (p.Ser741=) c.8157T>G (p.Ser2719=) c.896-29659T>G c.2988T>G (p.Ser996=) c.8031T>G (p.Ser2677=) n.1960T>G c.8160T>G (p.Ser2720=)
2	g.73490117C>A	CA347267696	ALMS1	c.7777C>A (p.His2593Asn) c.1169C>A c.5229C>A c.2224C>A (p.His742Asn) c.8158C>A (p.His2720Asn) c.896-29658C>A c.2989C>A (p.His997Asn) c.8032C>A (p.His2678Asn) n.1961C>A c.8161C>A (p.His2721Asn)
2	g.73490117C>G	CA347267699	ALMS1	c.7777C>G (p.His2593Asp) c.1169C>G c.5229C>G c.2224C>G (p.His742Asp) c.8158C>G (p.His2720Asp) c.896-29658C>G c.2989C>G (p.His997Asp) c.8032C>G (p.His2678Asp) n.1961C>G c.8161C>G (p.His2721Asp)
2	g.73490117C>T	CA347267698	ALMS1	c.7777C>T (p.His2593Tyr) c.1169C>T c.5229C>T c.2224C>T (p.His742Tyr) c.8158C>T (p.His2720Tyr) c.896-29658C>T c.2989C>T (p.His997Tyr) c.8032C>T (p.His2678Tyr) n.1961C>T c.8161C>T (p.His2721Tyr)
2	g.73490118A>C	CA347267701	ALMS1	c.7778A>C (p.His2593Pro) c.1170A>C c.5230A>C c.2225A>C (p.His742Pro) c.8159A>C (p.His2720Pro) c.896-29657A>C c.2990A>C (p.His997Pro) c.8033A>C (p.His2678Pro) n.1962A>C c.8162A>C (p.His2721Pro)
2	g.73490118A>G	CA347267703	ALMS1	c.7778A>G (p.His2593Arg) c.1170A>G c.5230A>G c.2225A>G (p.His742Arg) c.8159A>G (p.His2720Arg) c.896-29657A>G c.2990A>G (p.His997Arg) c.8033A>G (p.His2678Arg) n.1962A>G c.8162A>G (p.His2721Arg)
2	g.73490118A>T	CA347267704	ALMS1	c.7778A>T (p.His2593Leu) c.1170A>T c.5230A>T c.2225A>T (p.His742Leu) c.8159A>T (p.His2720Leu) c.896-29657A>T c.2990A>T (p.His997Leu) c.8033A>T (p.His2678Leu) n.1962A>T c.8162A>T (p.His2721Leu)
2	g.73490119C>A	CA347267706	ALMS1	c.7779C>A (p.His2593Gln) c.1171C>A c.5231C>A c.2226C>A (p.His742Gln) c.8160C>A (p.His2720Gln) c.896-29656C>A c.2991C>A (p.His997Gln) c.8034C>A (p.His2678Gln) n.1963C>A c.8163C>A (p.His2721Gln)
2	g.73490119C=	CA1260981501	ALMS1	c.7779C= (p.His2593=) c.1171C= c.5231C= c.2226C= (p.His742=) c.8160C= (p.His2720=) c.896-29656C= c.2991C= (p.His997=) c.8034C= (p.His2678=) n.1963C= c.8163C= (p.His2721=)
2	g.73490119C>G	CA347267707	ALMS1	c.7779C>G (p.His2593Gln) c.1171C>G c.5231C>G c.2226C>G (p.His742Gln) c.8160C>G (p.His2720Gln) c.896-29656C>G c.2991C>G (p.His997Gln) c.8034C>G (p.His2678Gln) n.1963C>G c.8163C>G (p.His2721Gln)
2	g.73490119C>T	CA50378141	ALMS1	c.7779C>T (p.His2593=) c.1171C>T c.5231C>T c.2226C>T (p.His742=) c.8160C>T (p.His2720=) c.896-29656C>T c.2991C>T (p.His997=) c.8034C>T (p.His2678=) n.1963C>T c.8163C>T (p.His2721=)	ClinVar dbSNP gnomAD v4
2	g.73490120C>A	CA427001008	ALMS1	c.7780C>A (p.Arg2594=) c.1172C>A c.5232C>A c.2227C>A (p.Arg743=) c.8161C>A (p.Arg2721=) c.896-29655C>A c.2992C>A (p.Arg998=) c.8035C>A (p.Arg2679=) n.1964C>A c.8164C>A (p.Arg2722=)
2	g.73490120C=	CA1260981503	ALMS1	c.7780C= (p.Arg2594=) c.1172C= c.5232C= c.2227C= (p.Arg743=) c.8161C= (p.Arg2721=) c.896-29655C= c.2992C= (p.Arg998=) c.8035C= (p.Arg2679=) n.1964C= c.8164C= (p.Arg2722=)
2	g.73490120C>G	CA347267708	ALMS1	c.7780C>G (p.Arg2594Gly) c.1172C>G c.5232C>G c.2227C>G (p.Arg743Gly) c.8161C>G (p.Arg2721Gly) c.896-29655C>G c.2992C>G (p.Arg998Gly) c.8035C>G (p.Arg2679Gly) n.1964C>G c.8164C>G (p.Arg2722Gly)
2	g.73490120C>T	CA252958	ALMS1	c.7780C>T (p.Arg2594Ter) c.1172C>T c.5232C>T c.2227C>T (p.Arg743Ter) c.8161C>T (p.Arg2721Ter) c.896-29655C>T c.2992C>T (p.Arg998Ter) c.8035C>T (p.Arg2679Ter) n.1964C>T c.8164C>T (p.Arg2722Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490121G>A	CA1714415	ALMS1	c.7781G>A (p.Arg2594Gln) c.1173G>A c.5233G>A c.2228G>A (p.Arg743Gln) c.8162G>A (p.Arg2721Gln) c.896-29654G>A c.2993G>A (p.Arg998Gln) c.8036G>A (p.Arg2679Gln) n.1965G>A c.8165G>A (p.Arg2722Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490121G>C	CA347267711	ALMS1	c.7781G>C (p.Arg2594Pro) c.1173G>C c.5233G>C c.2228G>C (p.Arg743Pro) c.8162G>C (p.Arg2721Pro) c.896-29654G>C c.2993G>C (p.Arg998Pro) c.8036G>C (p.Arg2679Pro) n.1965G>C c.8165G>C (p.Arg2722Pro)
2	g.73490121G=	CA1260981511	ALMS1	c.7781G= (p.Arg2594=) c.1173G= c.5233G= c.2228G= (p.Arg743=) c.8162G= (p.Arg2721=) c.896-29654G= c.2993G= (p.Arg998=) c.8036G= (p.Arg2679=) n.1965G= c.8165G= (p.Arg2722=)
2	g.73490121G>T	CA347267713	ALMS1	c.7781G>T (p.Arg2594Leu) c.1173G>T c.5233G>T c.2228G>T (p.Arg743Leu) c.8162G>T (p.Arg2721Leu) c.896-29654G>T c.2993G>T (p.Arg998Leu) c.8036G>T (p.Arg2679Leu) n.1965G>T c.8165G>T (p.Arg2722Leu)	gnomAD v4
2	g.73490122A=	CA1260981514	ALMS1	c.7782A= (p.Arg2594=) c.1174A= c.5234A= c.2229A= (p.Arg743=) c.8163A= (p.Arg2721=) c.896-29653A= c.2994A= (p.Arg998=) c.8037A= (p.Arg2679=) n.1966A= c.8166A= (p.Arg2722=)
2	g.73490122A>C	CA427001012	ALMS1	c.7782A>C (p.Arg2594=) c.1174A>C c.5234A>C c.2229A>C (p.Arg743=) c.8163A>C (p.Arg2721=) c.896-29653A>C c.2994A>C (p.Arg998=) c.8037A>C (p.Arg2679=) n.1966A>C c.8166A>C (p.Arg2722=)
2	g.73490122A>G	CA1714416	ALMS1	c.7782A>G (p.Arg2594=) c.1174A>G c.5234A>G c.2229A>G (p.Arg743=) c.8163A>G (p.Arg2721=) c.896-29653A>G c.2994A>G (p.Arg998=) c.8037A>G (p.Arg2679=) n.1966A>G c.8166A>G (p.Arg2722=)	ClinVar dbSNP ExAC gnomAD v2
2	g.73490122A>T	CA427001015	ALMS1	c.7782A>T (p.Arg2594=) c.1174A>T c.5234A>T c.2229A>T (p.Arg743=) c.8163A>T (p.Arg2721=) c.896-29653A>T c.2994A>T (p.Arg998=) c.8037A>T (p.Arg2679=) n.1966A>T c.8166A>T (p.Arg2722=)
2	g.73490123C>A	CA347267717	ALMS1	c.7783C>A (p.His2595Asn) c.1175C>A c.5235C>A c.2230C>A (p.His744Asn) c.8164C>A (p.His2722Asn) c.896-29652C>A c.2995C>A (p.His999Asn) c.8038C>A (p.His2680Asn) n.1967C>A c.8167C>A (p.His2723Asn)
2	g.73490123C>G	CA347267718	ALMS1	c.7783C>G (p.His2595Asp) c.1175C>G c.5235C>G c.2230C>G (p.His744Asp) c.8164C>G (p.His2722Asp) c.896-29652C>G c.2995C>G (p.His999Asp) c.8038C>G (p.His2680Asp) n.1967C>G c.8167C>G (p.His2723Asp)
2	g.73490123C>T	CA347267716	ALMS1	c.7783C>T (p.His2595Tyr) c.1175C>T c.5235C>T c.2230C>T (p.His744Tyr) c.8164C>T (p.His2722Tyr) c.896-29652C>T c.2995C>T (p.His999Tyr) c.8038C>T (p.His2680Tyr) n.1967C>T c.8167C>T (p.His2723Tyr)
2	g.73490124A>C	CA347267721	ALMS1	c.7784A>C (p.His2595Pro) c.1176A>C c.5236A>C c.2231A>C (p.His744Pro) c.8165A>C (p.His2722Pro) c.896-29651A>C c.2996A>C (p.His999Pro) c.8039A>C (p.His2680Pro) n.1968A>C c.8168A>C (p.His2723Pro)
2	g.73490124A>G	CA347267724	ALMS1	c.7784A>G (p.His2595Arg) c.1176A>G c.5236A>G c.2231A>G (p.His744Arg) c.8165A>G (p.His2722Arg) c.896-29651A>G c.2996A>G (p.His999Arg) c.8039A>G (p.His2680Arg) n.1968A>G c.8168A>G (p.His2723Arg)	gnomAD v4
2	g.73490124A>T	CA347267722	ALMS1	c.7784A>T (p.His2595Leu) c.1176A>T c.5236A>T c.2231A>T (p.His744Leu) c.8165A>T (p.His2722Leu) c.896-29651A>T c.2996A>T (p.His999Leu) c.8039A>T (p.His2680Leu) n.1968A>T c.8168A>T (p.His2723Leu)
2	g.73490125T>A	CA347267725	ALMS1	c.7785T>A (p.His2595Gln) c.1177T>A c.5237T>A c.2232T>A (p.His744Gln) c.8166T>A (p.His2722Gln) c.896-29650T>A c.2997T>A (p.His999Gln) c.8040T>A (p.His2680Gln) n.1969T>A c.8169T>A (p.His2723Gln)
2	g.73490125T>C	CA427001022	ALMS1	c.7785T>C (p.His2595=) c.1177T>C c.5237T>C c.2232T>C (p.His744=) c.8166T>C (p.His2722=) c.896-29650T>C c.2997T>C (p.His999=) c.8040T>C (p.His2680=) n.1969T>C c.8169T>C (p.His2723=)
2	g.73490125T>G	CA347267726	ALMS1	c.7785T>G (p.His2595Gln) c.1177T>G c.5237T>G c.2232T>G (p.His744Gln) c.8166T>G (p.His2722Gln) c.896-29650T>G c.2997T>G (p.His999Gln) c.8040T>G (p.His2680Gln) n.1969T>G c.8169T>G (p.His2723Gln)
2	g.73490126T>A	CA347267728	ALMS1	c.7786T>A (p.Ser2596Thr) c.1178T>A c.5238T>A c.2233T>A (p.Ser745Thr) c.8167T>A (p.Ser2723Thr) c.896-29649T>A c.2998T>A (p.Ser1000Thr) c.8041T>A (p.Ser2681Thr) n.1970T>A c.8170T>A (p.Ser2724Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490126T>C	CA347267730	ALMS1	c.7786T>C (p.Ser2596Pro) c.1178T>C c.5238T>C c.2233T>C (p.Ser745Pro) c.8167T>C (p.Ser2723Pro) c.896-29649T>C c.2998T>C (p.Ser1000Pro) c.8041T>C (p.Ser2681Pro) n.1970T>C c.8170T>C (p.Ser2724Pro)
2	g.73490126T>G	CA347267731	ALMS1	c.7786T>G (p.Ser2596Ala) c.1178T>G c.5238T>G c.2233T>G (p.Ser745Ala) c.8167T>G (p.Ser2723Ala) c.896-29649T>G c.2998T>G (p.Ser1000Ala) c.8041T>G (p.Ser2681Ala) n.1970T>G c.8170T>G (p.Ser2724Ala)	gnomAD v4
2	g.73490126T=	CA1260981518	ALMS1	c.7786T= (p.Ser2596=) c.1178T= c.5238T= c.2233T= (p.Ser745=) c.8167T= (p.Ser2723=) c.896-29649T= c.2998T= (p.Ser1000=) c.8041T= (p.Ser2681=) n.1970T= c.8170T= (p.Ser2724=)
2	g.73490127C>A	CA1714417	ALMS1	c.7787C>A (p.Ser2596Tyr) c.1179C>A c.5239C>A c.2234C>A (p.Ser745Tyr) c.8168C>A (p.Ser2723Tyr) c.896-29648C>A c.2999C>A (p.Ser1000Tyr) c.8042C>A (p.Ser2681Tyr) n.1971C>A c.8171C>A (p.Ser2724Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490127C=	CA1260981521	ALMS1	c.7787C= (p.Ser2596=) c.1179C= c.5239C= c.2234C= (p.Ser745=) c.8168C= (p.Ser2723=) c.896-29648C= c.2999C= (p.Ser1000=) c.8042C= (p.Ser2681=) n.1971C= c.8171C= (p.Ser2724=)
2	g.73490127C>G	CA347267732	ALMS1	c.7787C>G (p.Ser2596Cys) c.1179C>G c.5239C>G c.2234C>G (p.Ser745Cys) c.8168C>G (p.Ser2723Cys) c.896-29648C>G c.2999C>G (p.Ser1000Cys) c.8042C>G (p.Ser2681Cys) n.1971C>G c.8171C>G (p.Ser2724Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.73490127C>T	CA347267733	ALMS1	c.7787C>T (p.Ser2596Phe) c.1179C>T c.5239C>T c.2234C>T (p.Ser745Phe) c.8168C>T (p.Ser2723Phe) c.896-29648C>T c.2999C>T (p.Ser1000Phe) c.8042C>T (p.Ser2681Phe) n.1971C>T c.8171C>T (p.Ser2724Phe)
2	g.73490128T>A	CA427001031	ALMS1	c.7788T>A (p.Ser2596=) c.1180T>A c.5240T>A c.2235T>A (p.Ser745=) c.8169T>A (p.Ser2723=) c.896-29647T>A c.3000T>A (p.Ser1000=) c.8043T>A (p.Ser2681=) n.1972T>A c.8172T>A (p.Ser2724=)
2	g.73490128T>C	CA427001032	ALMS1	c.7788T>C (p.Ser2596=) c.1180T>C c.5240T>C c.2235T>C (p.Ser745=) c.8169T>C (p.Ser2723=) c.896-29647T>C c.3000T>C (p.Ser1000=) c.8043T>C (p.Ser2681=) n.1972T>C c.8172T>C (p.Ser2724=)
2	g.73490128T>G	CA427001034	ALMS1	c.7788T>G (p.Ser2596=) c.1180T>G c.5240T>G c.2235T>G (p.Ser745=) c.8169T>G (p.Ser2723=) c.896-29647T>G c.3000T>G (p.Ser1000=) c.8043T>G (p.Ser2681=) n.1972T>G c.8172T>G (p.Ser2724=)
2	g.73490129A=	CA1260981531	ALMS1	c.7789A= (p.Lys2597=) c.1181A= c.5241A= c.2236A= (p.Lys746=) c.8170A= (p.Lys2724=) c.896-29646A= c.3001A= (p.Lys1001=) c.8044A= (p.Lys2682=) n.1973A= c.8173A= (p.Lys2725=)
2	g.73490129A>C	CA347267735	ALMS1	c.7789A>C (p.Lys2597Gln) c.1181A>C c.5241A>C c.2236A>C (p.Lys746Gln) c.8170A>C (p.Lys2724Gln) c.896-29646A>C c.3001A>C (p.Lys1001Gln) c.8044A>C (p.Lys2682Gln) n.1973A>C c.8173A>C (p.Lys2725Gln)
2	g.73490129A>G	CA1714418	ALMS1	c.7789A>G (p.Lys2597Glu) c.1181A>G c.5241A>G c.2236A>G (p.Lys746Glu) c.8170A>G (p.Lys2724Glu) c.896-29646A>G c.3001A>G (p.Lys1001Glu) c.8044A>G (p.Lys2682Glu) n.1973A>G c.8173A>G (p.Lys2725Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490129A>T	CA347267736	ALMS1	c.7789A>T (p.Lys2597Ter) c.1181A>T c.5241A>T c.2236A>T (p.Lys746Ter) c.8170A>T (p.Lys2724Ter) c.896-29646A>T c.3001A>T (p.Lys1001Ter) c.8044A>T (p.Lys2682Ter) n.1973A>T c.8173A>T (p.Lys2725Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.73490130A>C	CA347267737	ALMS1	c.7790A>C (p.Lys2597Thr) c.1182A>C c.5242A>C c.2237A>C (p.Lys746Thr) c.8171A>C (p.Lys2724Thr) c.896-29645A>C c.3002A>C (p.Lys1001Thr) c.8045A>C (p.Lys2682Thr) n.1974A>C c.8174A>C (p.Lys2725Thr)
2	g.73490130A>G	CA347267738	ALMS1	c.7790A>G (p.Lys2597Arg) c.1182A>G c.5242A>G c.2237A>G (p.Lys746Arg) c.8171A>G (p.Lys2724Arg) c.896-29645A>G c.3002A>G (p.Lys1001Arg) c.8045A>G (p.Lys2682Arg) n.1974A>G c.8174A>G (p.Lys2725Arg)
2	g.73490130A>T	CA347267739	ALMS1	c.7790A>T (p.Lys2597Ile) c.1182A>T c.5242A>T c.2237A>T (p.Lys746Ile) c.8171A>T (p.Lys2724Ile) c.896-29645A>T c.3002A>T (p.Lys1001Ile) c.8045A>T (p.Lys2682Ile) n.1974A>T c.8174A>T (p.Lys2725Ile)
2	g.73490133_73490143del	CA2573135760	ALMS1	c.7793_7803del (p.Cys2598PhefsTer5) c.1185_1195del c.5245_5255del c.2240_2250del (p.Cys747PhefsTer5) c.8174_8184del (p.Cys2725PhefsTer5) c.896-29642_896-29632del c.3005_3015del (p.Cys1002PhefsTer5) c.8048_8058del (p.Cys2683PhefsTer5) n.1977_1987del c.8177_8187del (p.Cys2726PhefsTer5)	ClinVar dbSNP
2	g.73490131A=	CA1260981536	ALMS1	c.7791A= (p.Lys2597=) c.1183A= c.5243A= c.2238A= (p.Lys746=) c.8172A= (p.Lys2724=) c.896-29644A= c.3003A= (p.Lys1001=) c.8046A= (p.Lys2682=) n.1975A= c.8175A= (p.Lys2725=)
2	g.73490131A>C	CA347267743	ALMS1	c.7791A>C (p.Lys2597Asn) c.1183A>C c.5243A>C c.2238A>C (p.Lys746Asn) c.8172A>C (p.Lys2724Asn) c.896-29644A>C c.3003A>C (p.Lys1001Asn) c.8046A>C (p.Lys2682Asn) n.1975A>C c.8175A>C (p.Lys2725Asn)
2	g.73490131A>G	CA427001043	ALMS1	c.7791A>G (p.Lys2597=) c.1183A>G c.5243A>G c.2238A>G (p.Lys746=) c.8172A>G (p.Lys2724=) c.896-29644A>G c.3003A>G (p.Lys1001=) c.8046A>G (p.Lys2682=) n.1975A>G c.8175A>G (p.Lys2725=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.73490131A>T	CA347267741	ALMS1	c.7791A>T (p.Lys2597Asn) c.1183A>T c.5243A>T c.2238A>T (p.Lys746Asn) c.8172A>T (p.Lys2724Asn) c.896-29644A>T c.3003A>T (p.Lys1001Asn) c.8046A>T (p.Lys2682Asn) n.1975A>T c.8175A>T (p.Lys2725Asn)
2	g.73490132T>A	CA347267744	ALMS1	c.7792T>A (p.Cys2598Ser) c.1184T>A c.5244T>A c.2239T>A (p.Cys747Ser) c.8173T>A (p.Cys2725Ser) c.896-29643T>A c.3004T>A (p.Cys1002Ser) c.8047T>A (p.Cys2683Ser) n.1976T>A c.8176T>A (p.Cys2726Ser)
2	g.73490132T>C	CA347267746	ALMS1	c.7792T>C (p.Cys2598Arg) c.1184T>C c.5244T>C c.2239T>C (p.Cys747Arg) c.8173T>C (p.Cys2725Arg) c.896-29643T>C c.3004T>C (p.Cys1002Arg) c.8047T>C (p.Cys2683Arg) n.1976T>C c.8176T>C (p.Cys2726Arg)
2	g.73490132T>G	CA347267748	ALMS1	c.7792T>G (p.Cys2598Gly) c.1184T>G c.5244T>G c.2239T>G (p.Cys747Gly) c.8173T>G (p.Cys2725Gly) c.896-29643T>G c.3004T>G (p.Cys1002Gly) c.8047T>G (p.Cys2683Gly) n.1976T>G c.8176T>G (p.Cys2726Gly)
2	g.73490133G>A	CA347267750	ALMS1	c.7793G>A (p.Cys2598Tyr) c.1185G>A c.5245G>A c.2240G>A (p.Cys747Tyr) c.8174G>A (p.Cys2725Tyr) c.896-29642G>A c.3005G>A (p.Cys1002Tyr) c.8048G>A (p.Cys2683Tyr) n.1977G>A c.8177G>A (p.Cys2726Tyr)
2	g.73490133G>C	CA347267751	ALMS1	c.7793G>C (p.Cys2598Ser) c.1185G>C c.5245G>C c.2240G>C (p.Cys747Ser) c.8174G>C (p.Cys2725Ser) c.896-29642G>C c.3005G>C (p.Cys1002Ser) c.8048G>C (p.Cys2683Ser) n.1977G>C c.8177G>C (p.Cys2726Ser)
2	g.73490133G>T	CA347267752	ALMS1	c.7793G>T (p.Cys2598Phe) c.1185G>T c.5245G>T c.2240G>T (p.Cys747Phe) c.8174G>T (p.Cys2725Phe) c.896-29642G>T c.3005G>T (p.Cys1002Phe) c.8048G>T (p.Cys2683Phe) n.1977G>T c.8177G>T (p.Cys2726Phe)
2	g.73490134C>A	CA347267755	ALMS1	c.7794C>A (p.Cys2598Ter) c.1186C>A c.5246C>A c.2241C>A (p.Cys747Ter) c.8175C>A (p.Cys2725Ter) c.896-29641C>A c.3006C>A (p.Cys1002Ter) c.8049C>A (p.Cys2683Ter) n.1978C>A c.8178C>A (p.Cys2726Ter)
2	g.73490134C=	CA1260981541	ALMS1	c.7794C= (p.Cys2598=) c.1186C= c.5246C= c.2241C= (p.Cys747=) c.8175C= (p.Cys2725=) c.896-29641C= c.3006C= (p.Cys1002=) c.8049C= (p.Cys2683=) n.1978C= c.8178C= (p.Cys2726=)
2	g.73490134C>G	CA347267756	ALMS1	c.7794C>G (p.Cys2598Trp) c.1186C>G c.5246C>G c.2241C>G (p.Cys747Trp) c.8175C>G (p.Cys2725Trp) c.896-29641C>G c.3006C>G (p.Cys1002Trp) c.8049C>G (p.Cys2683Trp) n.1978C>G c.8178C>G (p.Cys2726Trp)
2	g.73490134C>T	CA1714419	ALMS1	c.7794C>T (p.Cys2598=) c.1186C>T c.5246C>T c.2241C>T (p.Cys747=) c.8175C>T (p.Cys2725=) c.896-29641C>T c.3006C>T (p.Cys1002=) c.8049C>T (p.Cys2683=) n.1978C>T c.8178C>T (p.Cys2726=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490135A>C	CA347267758	ALMS1	c.7795A>C (p.Ile2599Leu) c.1187A>C c.5247A>C c.2242A>C (p.Ile748Leu) c.8176A>C (p.Ile2726Leu) c.896-29640A>C c.3007A>C (p.Ile1003Leu) c.8050A>C (p.Ile2684Leu) n.1979A>C c.8179A>C (p.Ile2727Leu)
2	g.73490135A>G	CA347267760	ALMS1	c.7795A>G (p.Ile2599Val) c.1187A>G c.5247A>G c.2242A>G (p.Ile748Val) c.8176A>G (p.Ile2726Val) c.896-29640A>G c.3007A>G (p.Ile1003Val) c.8050A>G (p.Ile2684Val) n.1979A>G c.8179A>G (p.Ile2727Val)
2	g.73490135A>T	CA347267761	ALMS1	c.7795A>T (p.Ile2599Phe) c.1187A>T c.5247A>T c.2242A>T (p.Ile748Phe) c.8176A>T (p.Ile2726Phe) c.896-29640A>T c.3007A>T (p.Ile1003Phe) c.8050A>T (p.Ile2684Phe) n.1979A>T c.8179A>T (p.Ile2727Phe)
2	g.73490136T>A	CA347267766	ALMS1	c.7796T>A (p.Ile2599Asn) c.1188T>A c.5248T>A c.2243T>A (p.Ile748Asn) c.8177T>A (p.Ile2726Asn) c.896-29639T>A c.3008T>A (p.Ile1003Asn) c.8051T>A (p.Ile2684Asn) n.1980T>A c.8180T>A (p.Ile2727Asn)
2	g.73490136T>C	CA347267764	ALMS1	c.7796T>C (p.Ile2599Thr) c.1188T>C c.5248T>C c.2243T>C (p.Ile748Thr) c.8177T>C (p.Ile2726Thr) c.896-29639T>C c.3008T>C (p.Ile1003Thr) c.8051T>C (p.Ile2684Thr) n.1980T>C c.8180T>C (p.Ile2727Thr)
2	g.73490136T>G	CA347267763	ALMS1	c.7796T>G (p.Ile2599Ser) c.1188T>G c.5248T>G c.2243T>G (p.Ile748Ser) c.8177T>G (p.Ile2726Ser) c.896-29639T>G c.3008T>G (p.Ile1003Ser) c.8051T>G (p.Ile2684Ser) n.1980T>G c.8180T>G (p.Ile2727Ser)
2	g.73490137T>A	CA427001058	ALMS1	c.7797T>A (p.Ile2599=) c.1189T>A c.5249T>A c.2244T>A (p.Ile748=) c.8178T>A (p.Ile2726=) c.896-29638T>A c.3009T>A (p.Ile1003=) c.8052T>A (p.Ile2684=) n.1981T>A c.8181T>A (p.Ile2727=)
2	g.73490137T>C	CA1714420	ALMS1	c.7797T>C (p.Ile2599=) c.1189T>C c.5249T>C c.2244T>C (p.Ile748=) c.8178T>C (p.Ile2726=) c.896-29638T>C c.3009T>C (p.Ile1003=) c.8052T>C (p.Ile2684=) n.1981T>C c.8181T>C (p.Ile2727=)	ClinVar dbSNP ExAC gnomAD v2
2	g.73490137T>G	CA347267768	ALMS1	c.7797T>G (p.Ile2599Met) c.1189T>G c.5249T>G c.2244T>G (p.Ile748Met) c.8178T>G (p.Ile2726Met) c.896-29638T>G c.3009T>G (p.Ile1003Met) c.8052T>G (p.Ile2684Met) n.1981T>G c.8181T>G (p.Ile2727Met)
2	g.73490137T=	CA1260981545	ALMS1	c.7797T= (p.Ile2599=) c.1189T= c.5249T= c.2244T= (p.Ile748=) c.8178T= (p.Ile2726=) c.896-29638T= c.3009T= (p.Ile1003=) c.8052T= (p.Ile2684=) n.1981T= c.8181T= (p.Ile2727=)
2	g.73490138T>A	CA347267770	ALMS1	c.7798T>A (p.Ser2600Thr) c.1190T>A c.5250T>A c.2245T>A (p.Ser749Thr) c.8179T>A (p.Ser2727Thr) c.896-29637T>A c.3010T>A (p.Ser1004Thr) c.8053T>A (p.Ser2685Thr) n.1982T>A c.8182T>A (p.Ser2728Thr)
2	g.73490138T>C	CA347267771	ALMS1	c.7798T>C (p.Ser2600Pro) c.1190T>C c.5250T>C c.2245T>C (p.Ser749Pro) c.8179T>C (p.Ser2727Pro) c.896-29637T>C c.3010T>C (p.Ser1004Pro) c.8053T>C (p.Ser2685Pro) n.1982T>C c.8182T>C (p.Ser2728Pro)
2	g.73490138T>G	CA347267772	ALMS1	c.7798T>G (p.Ser2600Ala) c.1190T>G c.5250T>G c.2245T>G (p.Ser749Ala) c.8179T>G (p.Ser2727Ala) c.896-29637T>G c.3010T>G (p.Ser1004Ala) c.8053T>G (p.Ser2685Ala) n.1982T>G c.8182T>G (p.Ser2728Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.73490138T=	CA1260981548	ALMS1	c.7798T= (p.Ser2600=) c.1190T= c.5250T= c.2245T= (p.Ser749=) c.8179T= (p.Ser2727=) c.896-29637T= c.3010T= (p.Ser1004=) c.8053T= (p.Ser2685=) n.1982T= c.8182T= (p.Ser2728=)
2	g.73490139C>A	CA347267774	ALMS1	c.7799C>A (p.Ser2600Tyr) c.1191C>A c.5251C>A c.2246C>A (p.Ser749Tyr) c.8180C>A (p.Ser2727Tyr) c.896-29636C>A c.3011C>A (p.Ser1004Tyr) c.8054C>A (p.Ser2685Tyr) n.1983C>A c.8183C>A (p.Ser2728Tyr)
2	g.73490139C=	CA1260981551	ALMS1	c.7799C= (p.Ser2600=) c.1191C= c.5251C= c.2246C= (p.Ser749=) c.8180C= (p.Ser2727=) c.896-29636C= c.3011C= (p.Ser1004=) c.8054C= (p.Ser2685=) n.1983C= c.8183C= (p.Ser2728=)
2	g.73490139C>G	CA347267776	ALMS1	c.7799C>G (p.Ser2600Cys) c.1191C>G c.5251C>G c.2246C>G (p.Ser749Cys) c.8180C>G (p.Ser2727Cys) c.896-29636C>G c.3011C>G (p.Ser1004Cys) c.8054C>G (p.Ser2685Cys) n.1983C>G c.8183C>G (p.Ser2728Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.73490139C>T	CA347267778	ALMS1	c.7799C>T (p.Ser2600Phe) c.1191C>T c.5251C>T c.2246C>T (p.Ser749Phe) c.8180C>T (p.Ser2727Phe) c.896-29636C>T c.3011C>T (p.Ser1004Phe) c.8054C>T (p.Ser2685Phe) n.1983C>T c.8183C>T (p.Ser2728Phe)
2	g.73490140C>A	CA427001065	ALMS1	c.7800C>A (p.Ser2600=) c.1192C>A c.5252C>A c.2247C>A (p.Ser749=) c.8181C>A (p.Ser2727=) c.896-29635C>A c.3012C>A (p.Ser1004=) c.8055C>A (p.Ser2685=) n.1984C>A c.8184C>A (p.Ser2728=)	gnomAD v4
2	g.73490140C=	CA1260981553	ALMS1	c.7800C= (p.Ser2600=) c.1192C= c.5252C= c.2247C= (p.Ser749=) c.8181C= (p.Ser2727=) c.896-29635C= c.3012C= (p.Ser1004=) c.8055C= (p.Ser2685=) n.1984C= c.8184C= (p.Ser2728=)
2	g.73490140C>G	CA1714421	ALMS1	c.7800C>G (p.Ser2600=) c.1192C>G c.5252C>G c.2247C>G (p.Ser749=) c.8181C>G (p.Ser2727=) c.896-29635C>G c.3012C>G (p.Ser1004=) c.8055C>G (p.Ser2685=) n.1984C>G c.8184C>G (p.Ser2728=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490140C>T	CA427001068	ALMS1	c.7800C>T (p.Ser2600=) c.1192C>T c.5252C>T c.2247C>T (p.Ser749=) c.8181C>T (p.Ser2727=) c.896-29635C>T c.3012C>T (p.Ser1004=) c.8055C>T (p.Ser2685=) n.1984C>T c.8184C>T (p.Ser2728=)	dbSNP gnomAD v3 gnomAD v4
2	g.73490141A>C	CA347267780	ALMS1	c.7801A>C (p.Asn2601His) c.1193A>C c.5253A>C c.2248A>C (p.Asn750His) c.8182A>C (p.Asn2728His) c.896-29634A>C c.3013A>C (p.Asn1005His) c.8056A>C (p.Asn2686His) n.1985A>C c.8185A>C (p.Asn2729His)	ClinVar
2	g.73490141A>G	CA347267781	ALMS1	c.7801A>G (p.Asn2601Asp) c.1193A>G c.5253A>G c.2248A>G (p.Asn750Asp) c.8182A>G (p.Asn2728Asp) c.896-29634A>G c.3013A>G (p.Asn1005Asp) c.8056A>G (p.Asn2686Asp) n.1985A>G c.8185A>G (p.Asn2729Asp)
2	g.73490141A>T	CA347267783	ALMS1	c.7801A>T (p.Asn2601Tyr) c.1193A>T c.5253A>T c.2248A>T (p.Asn750Tyr) c.8182A>T (p.Asn2728Tyr) c.896-29634A>T c.3013A>T (p.Asn1005Tyr) c.8056A>T (p.Asn2686Tyr) n.1985A>T c.8185A>T (p.Asn2729Tyr)
2	g.73490142A=	CA1260981556	ALMS1	c.7802A= (p.Asn2601=) c.1194A= c.5254A= c.2249A= (p.Asn750=) c.8183A= (p.Asn2728=) c.896-29633A= c.3014A= (p.Asn1005=) c.8057A= (p.Asn2686=) n.1986A= c.8186A= (p.Asn2729=)
2	g.73490142A>C	CA347267786	ALMS1	c.7802A>C (p.Asn2601Thr) c.1194A>C c.5254A>C c.2249A>C (p.Asn750Thr) c.8183A>C (p.Asn2728Thr) c.896-29633A>C c.3014A>C (p.Asn1005Thr) c.8057A>C (p.Asn2686Thr) n.1986A>C c.8186A>C (p.Asn2729Thr)
2	g.73490142A>G	CA347267784	ALMS1	c.7802A>G (p.Asn2601Ser) c.1194A>G c.5254A>G c.2249A>G (p.Asn750Ser) c.8183A>G (p.Asn2728Ser) c.896-29633A>G c.3014A>G (p.Asn1005Ser) c.8057A>G (p.Asn2686Ser) n.1986A>G c.8186A>G (p.Asn2729Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490142A>T	CA50378194	ALMS1	c.7802A>T (p.Asn2601Ile) c.1194A>T c.5254A>T c.2249A>T (p.Asn750Ile) c.8183A>T (p.Asn2728Ile) c.896-29633A>T c.3014A>T (p.Asn1005Ile) c.8057A>T (p.Asn2686Ile) n.1986A>T c.8186A>T (p.Asn2729Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73490143T>A	CA347267787	ALMS1	c.7803T>A (p.Asn2601Lys) c.1195T>A c.5255T>A c.2250T>A (p.Asn750Lys) c.8184T>A (p.Asn2728Lys) c.896-29632T>A c.3015T>A (p.Asn1005Lys) c.8058T>A (p.Asn2686Lys) n.1987T>A c.8187T>A (p.Asn2729Lys)
2	g.73490143T>C	CA427001075	ALMS1	c.7803T>C (p.Asn2601=) c.1195T>C c.5255T>C c.2250T>C (p.Asn750=) c.8184T>C (p.Asn2728=) c.896-29632T>C c.3015T>C (p.Asn1005=) c.8058T>C (p.Asn2686=) n.1987T>C c.8187T>C (p.Asn2729=)	gnomAD v4
2	g.73490143T>G	CA347267789	ALMS1	c.7803T>G (p.Asn2601Lys) c.1195T>G c.5255T>G c.2250T>G (p.Asn750Lys) c.8184T>G (p.Asn2728Lys) c.896-29632T>G c.3015T>G (p.Asn1005Lys) c.8058T>G (p.Asn2686Lys) n.1987T>G c.8187T>G (p.Asn2729Lys)
2	g.73490144T>A	CA347267790	ALMS1	c.7804T>A (p.Ser2602Thr) c.1196T>A c.5256T>A c.2251T>A (p.Ser751Thr) c.8185T>A (p.Ser2729Thr) c.896-29631T>A c.3016T>A (p.Ser1006Thr) c.8059T>A (p.Ser2687Thr) n.1988T>A c.8188T>A (p.Ser2730Thr)
2	g.73490144T>C	CA347267791	ALMS1	c.7804T>C (p.Ser2602Pro) c.1196T>C c.5256T>C c.2251T>C (p.Ser751Pro) c.8185T>C (p.Ser2729Pro) c.896-29631T>C c.3016T>C (p.Ser1006Pro) c.8059T>C (p.Ser2687Pro) n.1988T>C c.8188T>C (p.Ser2730Pro)
2	g.73490144T>G	CA347267792	ALMS1	c.7804T>G (p.Ser2602Ala) c.1196T>G c.5256T>G c.2251T>G (p.Ser751Ala) c.8185T>G (p.Ser2729Ala) c.896-29631T>G c.3016T>G (p.Ser1006Ala) c.8059T>G (p.Ser2687Ala) n.1988T>G c.8188T>G (p.Ser2730Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.73490144T=	CA1260981562	ALMS1	c.7804T= (p.Ser2602=) c.1196T= c.5256T= c.2251T= (p.Ser751=) c.8185T= (p.Ser2729=) c.896-29631T= c.3016T= (p.Ser1006=) c.8059T= (p.Ser2687=) n.1988T= c.8188T= (p.Ser2730=)
2	g.73490145C>A	CA1714422	ALMS1	c.7805C>A (p.Ser2602Tyr) c.1197C>A c.5257C>A c.2252C>A (p.Ser751Tyr) c.8186C>A (p.Ser2729Tyr) c.896-29630C>A c.3017C>A (p.Ser1006Tyr) c.8060C>A (p.Ser2687Tyr) n.1989C>A c.8189C>A (p.Ser2730Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73490145C=	CA1260981566	ALMS1	c.7805C= (p.Ser2602=) c.1197C= c.5257C= c.2252C= (p.Ser751=) c.8186C= (p.Ser2729=) c.896-29630C= c.3017C= (p.Ser1006=) c.8060C= (p.Ser2687=) n.1989C= c.8189C= (p.Ser2730=)
2	g.73490145C>G	CA347267795	ALMS1	c.7805C>G (p.Ser2602Cys) c.1197C>G c.5257C>G c.2252C>G (p.Ser751Cys) c.8186C>G (p.Ser2729Cys) c.896-29630C>G c.3017C>G (p.Ser1006Cys) c.8060C>G (p.Ser2687Cys) n.1989C>G c.8189C>G (p.Ser2730Cys)
2	g.73490145C>T	CA347267797	ALMS1	c.7805C>T (p.Ser2602Phe) c.1197C>T c.5257C>T c.2252C>T (p.Ser751Phe) c.8186C>T (p.Ser2729Phe) c.896-29630C>T c.3017C>T (p.Ser1006Phe) c.8060C>T (p.Ser2687Phe) n.1989C>T c.8189C>T (p.Ser2730Phe)	gnomAD v4
2	g.73490146C>A	CA427001086	ALMS1	c.7806C>A (p.Ser2602=) c.1198C>A c.5258C>A c.2253C>A (p.Ser751=) c.8187C>A (p.Ser2729=) c.896-29629C>A c.3018C>A (p.Ser1006=) c.8061C>A (p.Ser2687=) n.1990C>A c.8190C>A (p.Ser2730=)
2	g.73490146C=	CA1260981571	ALMS1	c.7806C= (p.Ser2602=) c.1198C= c.5258C= c.2253C= (p.Ser751=) c.8187C= (p.Ser2729=) c.896-29629C= c.3018C= (p.Ser1006=) c.8061C= (p.Ser2687=) n.1990C= c.8190C= (p.Ser2730=)
2	g.73490146C>G	CA427001085	ALMS1	c.7806C>G (p.Ser2602=) c.1198C>G c.5258C>G c.2253C>G (p.Ser751=) c.8187C>G (p.Ser2729=) c.896-29629C>G c.3018C>G (p.Ser1006=) c.8061C>G (p.Ser2687=) n.1990C>G c.8190C>G (p.Ser2730=)
2	g.73490146C>T	CA427001084	ALMS1	c.7806C>T (p.Ser2602=) c.1198C>T c.5258C>T c.2253C>T (p.Ser751=) c.8187C>T (p.Ser2729=) c.896-29629C>T c.3018C>T (p.Ser1006=) c.8061C>T (p.Ser2687=) n.1990C>T c.8190C>T (p.Ser2730=)	dbSNP
2	g.73490147T>A	CA347267798	ALMS1	c.7807T>A (p.Ser2603Thr) c.1199T>A c.5259T>A c.2254T>A (p.Ser752Thr) c.8188T>A (p.Ser2730Thr) c.896-29628T>A c.3019T>A (p.Ser1007Thr) c.8062T>A (p.Ser2688Thr) n.1991T>A c.8191T>A (p.Ser2731Thr)
2	g.73490147T>C	CA347267799	ALMS1	c.7807T>C (p.Ser2603Pro) c.1199T>C c.5259T>C c.2254T>C (p.Ser752Pro) c.8188T>C (p.Ser2730Pro) c.896-29628T>C c.3019T>C (p.Ser1007Pro) c.8062T>C (p.Ser2688Pro) n.1991T>C c.8191T>C (p.Ser2731Pro)
2	g.73490147T>G	CA347267801	ALMS1	c.7807T>G (p.Ser2603Ala) c.1199T>G c.5259T>G c.2254T>G (p.Ser752Ala) c.8188T>G (p.Ser2730Ala) c.896-29628T>G c.3019T>G (p.Ser1007Ala) c.8062T>G (p.Ser2688Ala) n.1991T>G c.8191T>G (p.Ser2731Ala)
2	g.73490148C>A	CA347267804	ALMS1	c.7808C>A (p.Ser2603Tyr) c.1200C>A c.5260C>A c.2255C>A (p.Ser752Tyr) c.8189C>A (p.Ser2730Tyr) c.896-29627C>A c.3020C>A (p.Ser1007Tyr) c.8063C>A (p.Ser2688Tyr) n.1992C>A c.8192C>A (p.Ser2731Tyr)
2	g.73490148C>G	CA347267803	ALMS1	c.7808C>G (p.Ser2603Cys) c.1200C>G c.5260C>G c.2255C>G (p.Ser752Cys) c.8189C>G (p.Ser2730Cys) c.896-29627C>G c.3020C>G (p.Ser1007Cys) c.8063C>G (p.Ser2688Cys) n.1992C>G c.8192C>G (p.Ser2731Cys)	gnomAD v4
2	g.73490148C>T	CA347267802	ALMS1	c.7808C>T (p.Ser2603Phe) c.1200C>T c.5260C>T c.2255C>T (p.Ser752Phe) c.8189C>T (p.Ser2730Phe) c.896-29627C>T c.3020C>T (p.Ser1007Phe) c.8063C>T (p.Ser2688Phe) n.1992C>T c.8192C>T (p.Ser2731Phe)
2	g.73490149T>A	CA427001094	ALMS1	c.7809T>A (p.Ser2603=) c.1201T>A c.5261T>A c.2256T>A (p.Ser752=) c.8190T>A (p.Ser2730=) c.896-29626T>A c.3021T>A (p.Ser1007=) c.8064T>A (p.Ser2688=) n.1993T>A c.8193T>A (p.Ser2731=)
2	g.73490149T>C	CA427001096	ALMS1	c.7809T>C (p.Ser2603=) c.1201T>C c.5261T>C c.2256T>C (p.Ser752=) c.8190T>C (p.Ser2730=) c.896-29626T>C c.3021T>C (p.Ser1007=) c.8064T>C (p.Ser2688=) n.1993T>C c.8193T>C (p.Ser2731=)
2	g.73490149T>G	CA427001097	ALMS1	c.7809T>G (p.Ser2603=) c.1201T>G c.5261T>G c.2256T>G (p.Ser752=) c.8190T>G (p.Ser2730=) c.896-29626T>G c.3021T>G (p.Ser1007=) c.8064T>G (p.Ser2688=) n.1993T>G c.8193T>G (p.Ser2731=)
2	g.73490150G>A	CA347267806	ALMS1	c.7810G>A (p.Val2604Ile) c.1202G>A c.5262G>A c.2257G>A (p.Val753Ile) c.8191G>A (p.Val2731Ile) c.896-29625G>A c.3022G>A (p.Val1008Ile) c.8065G>A (p.Val2689Ile) n.1994G>A c.8194G>A (p.Val2732Ile)	dbSNP gnomAD v4
2	g.73490150G>C	CA347267809	ALMS1	c.7810G>C (p.Val2604Leu) c.1202G>C c.5262G>C c.2257G>C (p.Val753Leu) c.8191G>C (p.Val2731Leu) c.896-29625G>C c.3022G>C (p.Val1008Leu) c.8065G>C (p.Val2689Leu) n.1994G>C c.8194G>C (p.Val2732Leu)
2	g.73490150G=	CA1260981575	ALMS1	c.7810G= (p.Val2604=) c.1202G= c.5262G= c.2257G= (p.Val753=) c.8191G= (p.Val2731=) c.896-29625G= c.3022G= (p.Val1008=) c.8065G= (p.Val2689=) n.1994G= c.8194G= (p.Val2732=)
2	g.73490150G>T	CA347267807	ALMS1	c.7810G>T (p.Val2604Phe) c.1202G>T c.5262G>T c.2257G>T (p.Val753Phe) c.8191G>T (p.Val2731Phe) c.896-29625G>T c.3022G>T (p.Val1008Phe) c.8065G>T (p.Val2689Phe) n.1994G>T c.8194G>T (p.Val2732Phe)
2	g.73490151T>A	CA347267810	ALMS1	c.7811T>A (p.Val2604Asp) c.1203T>A c.5263T>A c.2258T>A (p.Val753Asp) c.8192T>A (p.Val2731Asp) c.896-29624T>A c.3023T>A (p.Val1008Asp) c.8066T>A (p.Val2689Asp) n.1995T>A c.8195T>A (p.Val2732Asp)
2	g.73490151T>C	CA347267812	ALMS1	c.7811T>C (p.Val2604Ala) c.1203T>C c.5263T>C c.2258T>C (p.Val753Ala) c.8192T>C (p.Val2731Ala) c.896-29624T>C c.3023T>C (p.Val1008Ala) c.8066T>C (p.Val2689Ala) n.1995T>C c.8195T>C (p.Val2732Ala)
2	g.73490151T>G	CA347267813	ALMS1	c.7811T>G (p.Val2604Gly) c.1203T>G c.5263T>G c.2258T>G (p.Val753Gly) c.8192T>G (p.Val2731Gly) c.896-29624T>G c.3023T>G (p.Val1008Gly) c.8066T>G (p.Val2689Gly) n.1995T>G c.8195T>G (p.Val2732Gly)
2	g.73490152T>A	CA427001099	ALMS1	c.7812T>A (p.Val2604=) c.1204T>A c.5264T>A c.2259T>A (p.Val753=) c.8193T>A (p.Val2731=) c.896-29623T>A c.3024T>A (p.Val1008=) c.8067T>A (p.Val2689=) n.1996T>A c.8196T>A (p.Val2732=)
2	g.73490152T>C	CA427001100	ALMS1	c.7812T>C (p.Val2604=) c.1204T>C c.5264T>C c.2259T>C (p.Val753=) c.8193T>C (p.Val2731=) c.896-29623T>C c.3024T>C (p.Val1008=) c.8067T>C (p.Val2689=) n.1996T>C c.8196T>C (p.Val2732=)
2	g.73490152T>G	CA427001101	ALMS1	c.7812T>G (p.Val2604=) c.1204T>G c.5264T>G c.2259T>G (p.Val753=) c.8193T>G (p.Val2731=) c.896-29623T>G c.3024T>G (p.Val1008=) c.8067T>G (p.Val2689=) n.1996T>G c.8196T>G (p.Val2732=)	gnomAD v4
2	g.73490153G>A	CA347267814	ALMS1	c.7813G>A (p.Val2605Ile) c.1205G>A c.5265G>A c.2260G>A (p.Val754Ile) c.8194G>A (p.Val2732Ile) c.896-29622G>A c.3025G>A (p.Val1009Ile) c.8068G>A (p.Val2690Ile) n.1997G>A c.8197G>A (p.Val2733Ile)
2	g.73490153G>C	CA347267816	ALMS1	c.7813G>C (p.Val2605Leu) c.1205G>C c.5265G>C c.2260G>C (p.Val754Leu) c.8194G>C (p.Val2732Leu) c.896-29622G>C c.3025G>C (p.Val1009Leu) c.8068G>C (p.Val2690Leu) n.1997G>C c.8197G>C (p.Val2733Leu)
2	g.73490153G>T	CA347267818	ALMS1	c.7813G>T (p.Val2605Phe) c.1205G>T c.5265G>T c.2260G>T (p.Val754Phe) c.8194G>T (p.Val2732Phe) c.896-29622G>T c.3025G>T (p.Val1009Phe) c.8068G>T (p.Val2690Phe) n.1997G>T c.8197G>T (p.Val2733Phe)
2	g.73490154T>A	CA347267820	ALMS1	c.7814T>A (p.Val2605Asp) c.1206T>A c.5266T>A c.2261T>A (p.Val754Asp) c.8195T>A (p.Val2732Asp) c.896-29621T>A c.3026T>A (p.Val1009Asp) c.8069T>A (p.Val2690Asp) n.1998T>A c.8198T>A (p.Val2733Asp)
2	g.73490154T>C	CA1714423	ALMS1	c.7814T>C (p.Val2605Ala) c.1206T>C c.5266T>C c.2261T>C (p.Val754Ala) c.8195T>C (p.Val2732Ala) c.896-29621T>C c.3026T>C (p.Val1009Ala) c.8069T>C (p.Val2690Ala) n.1998T>C c.8198T>C (p.Val2733Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73490154T>G	CA347267822	ALMS1	c.7814T>G (p.Val2605Gly) c.1206T>G c.5266T>G c.2261T>G (p.Val754Gly) c.8195T>G (p.Val2732Gly) c.896-29621T>G c.3026T>G (p.Val1009Gly) c.8069T>G (p.Val2690Gly) n.1998T>G c.8198T>G (p.Val2733Gly)
2	g.73490154T=	CA1260981579	ALMS1	c.7814T= (p.Val2605=) c.1206T= c.5266T= c.2261T= (p.Val754=) c.8195T= (p.Val2732=) c.896-29621T= c.3026T= (p.Val1009=) c.8069T= (p.Val2690=) n.1998T= c.8198T= (p.Val2733=)
2	g.73490155T>A	CA427001108	ALMS1	c.7815T>A (p.Val2605=) c.1207T>A c.5267T>A c.2262T>A (p.Val754=) c.8196T>A (p.Val2732=) c.896-29620T>A c.3027T>A (p.Val1009=) c.8070T>A (p.Val2690=) n.1999T>A c.8199T>A (p.Val2733=)
2	g.73490155T>C	CA427001110	ALMS1	c.7815T>C (p.Val2605=) c.1207T>C c.5267T>C c.2262T>C (p.Val754=) c.8196T>C (p.Val2732=) c.896-29620T>C c.3027T>C (p.Val1009=) c.8070T>C (p.Val2690=) n.1999T>C c.8199T>C (p.Val2733=)
2	g.73490155T>G	CA427001111	ALMS1	c.7815T>G (p.Val2605=) c.1207T>G c.5267T>G c.2262T>G (p.Val754=) c.8196T>G (p.Val2732=) c.896-29620T>G c.3027T>G (p.Val1009=) c.8070T>G (p.Val2690=) n.1999T>G c.8199T>G (p.Val2733=)
2	g.73490156A=	CA1260981585	ALMS1	c.7816A= (p.Lys2606=) c.1208A= c.5268A= c.2263A= (p.Lys755=) c.8197A= (p.Lys2733=) c.896-29619A= c.3028A= (p.Lys1010=) c.8071A= (p.Lys2691=) n.2000A= c.8200A= (p.Lys2734=)
2	g.73490156A>C	CA347267824	ALMS1	c.7816A>C (p.Lys2606Gln) c.1208A>C c.5268A>C c.2263A>C (p.Lys755Gln) c.8197A>C (p.Lys2733Gln) c.896-29619A>C c.3028A>C (p.Lys1010Gln) c.8071A>C (p.Lys2691Gln) n.2000A>C c.8200A>C (p.Lys2734Gln)	ClinVar dbSNP
2	g.73490156A>G	CA347267825	ALMS1	c.7816A>G (p.Lys2606Glu) c.1208A>G c.5268A>G c.2263A>G (p.Lys755Glu) c.8197A>G (p.Lys2733Glu) c.896-29619A>G c.3028A>G (p.Lys1010Glu) c.8071A>G (p.Lys2691Glu) n.2000A>G c.8200A>G (p.Lys2734Glu)
2	g.73490156A>T	CA347267826	ALMS1	c.7816A>T (p.Lys2606Ter) c.1208A>T c.5268A>T c.2263A>T (p.Lys755Ter) c.8197A>T (p.Lys2733Ter) c.896-29619A>T c.3028A>T (p.Lys1010Ter) c.8071A>T (p.Lys2691Ter) n.2000A>T c.8200A>T (p.Lys2734Ter)
2	g.73490157A=	CA1260981590	ALMS1	c.7817A= (p.Lys2606=) c.1209A= c.5269A= c.2264A= (p.Lys755=) c.8198A= (p.Lys2733=) c.896-29618A= c.3029A= (p.Lys1010=) c.8072A= (p.Lys2691=) n.2001A= c.8201A= (p.Lys2734=)
2	g.73490157A>C	CA347267830	ALMS1	c.7817A>C (p.Lys2606Thr) c.1209A>C c.5269A>C c.2264A>C (p.Lys755Thr) c.8198A>C (p.Lys2733Thr) c.896-29618A>C c.3029A>C (p.Lys1010Thr) c.8072A>C (p.Lys2691Thr) n.2001A>C c.8201A>C (p.Lys2734Thr)	dbSNP
2	g.73490157A>G	CA347267827	ALMS1	c.7817A>G (p.Lys2606Arg) c.1209A>G c.5269A>G c.2264A>G (p.Lys755Arg) c.8198A>G (p.Lys2733Arg) c.896-29618A>G c.3029A>G (p.Lys1010Arg) c.8072A>G (p.Lys2691Arg) n.2001A>G c.8201A>G (p.Lys2734Arg)
2	g.73490157A>T	CA347267829	ALMS1	c.7817A>T (p.Lys2606Met) c.1209A>T c.5269A>T c.2264A>T (p.Lys755Met) c.8198A>T (p.Lys2733Met) c.896-29618A>T c.3029A>T (p.Lys1010Met) c.8072A>T (p.Lys2691Met) n.2001A>T c.8201A>T (p.Lys2734Met)
2	g.73490158G>A	CA427001117	ALMS1	c.7818G>A (p.Lys2606=) c.1210G>A c.5270G>A c.2265G>A (p.Lys755=) c.8199G>A (p.Lys2733=) c.896-29617G>A c.3030G>A (p.Lys1010=) c.8073G>A (p.Lys2691=) n.2002G>A c.8202G>A (p.Lys2734=)
2	g.73490158G>C	CA347267831	ALMS1	c.7818G>C (p.Lys2606Asn) c.1210G>C c.5270G>C c.2265G>C (p.Lys755Asn) c.8199G>C (p.Lys2733Asn) c.896-29617G>C c.3030G>C (p.Lys1010Asn) c.8073G>C (p.Lys2691Asn) n.2002G>C c.8202G>C (p.Lys2734Asn)
2	g.73490158G>T	CA347267832	ALMS1	c.7818G>T (p.Lys2606Asn) c.1210G>T c.5270G>T c.2265G>T (p.Lys755Asn) c.8199G>T (p.Lys2733Asn) c.896-29617G>T c.3030G>T (p.Lys1010Asn) c.8073G>T (p.Lys2691Asn) n.2002G>T c.8202G>T (p.Lys2734Asn)
2	g.73490159G>A	CA347267834	ALMS1	c.7819G>A (p.Val2607Ile) c.1211G>A c.5271G>A c.2266G>A (p.Val756Ile) c.8200G>A (p.Val2734Ile) c.896-29616G>A c.3030+1G>A (n.3030+1G>A) c.8074G>A (p.Val2692Ile) n.2003G>A c.8203G>A (p.Val2735Ile)
2	g.73490159G>C	CA347267835	ALMS1	c.7819G>C (p.Val2607Leu) c.1211G>C c.5271G>C c.2266G>C (p.Val756Leu) c.8200G>C (p.Val2734Leu) c.896-29616G>C c.3030+1G>C (n.3030+1G>C) c.8074G>C (p.Val2692Leu) n.2003G>C c.8203G>C (p.Val2735Leu)
2	g.73490159G>T	CA347267836	ALMS1	c.7819G>T (p.Val2607Phe) c.1211G>T c.5271G>T c.2266G>T (p.Val756Phe) c.8200G>T (p.Val2734Phe) c.896-29616G>T c.3030+1G>T (n.3030+1G>T) c.8074G>T (p.Val2692Phe) n.2003G>T c.8203G>T (p.Val2735Phe)
2	g.73490160T>A	CA347267838	ALMS1	c.7820T>A (p.Val2607Asp) c.1212T>A c.5272T>A c.2267T>A (p.Val756Asp) c.8201T>A (p.Val2734Asp) c.896-29615T>A c.3030+2T>A (n.3030+2T>A) c.8075T>A (p.Val2692Asp) n.2004T>A c.8204T>A (p.Val2735Asp)
2	g.73490160T>C	CA347267840	ALMS1	c.7820T>C (p.Val2607Ala) c.1212T>C c.5272T>C c.2267T>C (p.Val756Ala) c.8201T>C (p.Val2734Ala) c.896-29615T>C c.3030+2T>C (n.3030+2T>C) c.8075T>C (p.Val2692Ala) n.2004T>C c.8204T>C (p.Val2735Ala)	gnomAD v4
2	g.73490160T>G	CA347267842	ALMS1	c.7820T>G (p.Val2607Gly) c.1212T>G c.5272T>G c.2267T>G (p.Val756Gly) c.8201T>G (p.Val2734Gly) c.896-29615T>G c.3030+2T>G (n.3030+2T>G) c.8075T>G (p.Val2692Gly) n.2004T>G c.8204T>G (p.Val2735Gly)
2	g.73490161T>A	CA427001125	ALMS1	c.7821T>A (p.Val2607=) c.1213T>A c.5273T>A c.2268T>A (p.Val756=) c.8202T>A (p.Val2734=) c.896-29614T>A c.3030+3T>A (n.3030+3T>A) c.8076T>A (p.Val2692=) n.2005T>A c.8205T>A (p.Val2735=)
2	g.73490161T>C	CA427001126	ALMS1	c.7821T>C (p.Val2607=) c.1213T>C c.5273T>C c.2268T>C (p.Val756=) c.8202T>C (p.Val2734=) c.896-29614T>C c.3030+3T>C (n.3030+3T>C) c.8076T>C (p.Val2692=) n.2005T>C c.8205T>C (p.Val2735=)
2	g.73490161T>G	CA427001128	ALMS1	c.7821T>G (p.Val2607=) c.1213T>G c.5273T>G c.2268T>G (p.Val756=) c.8202T>G (p.Val2734=) c.896-29614T>G c.3030+3T>G (n.3030+3T>G) c.8076T>G (p.Val2692=) n.2005T>G c.8205T>G (p.Val2735=)

Number of alleles fetched